UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693124G>A | CA515072072 | A4GALT,CYB5R3 | c.-49+27673C>T (n.-49+27673C>T) c.828C>T (p.Val276=) | |
| 22 | g.42693124G>C | CA515072074 | A4GALT,CYB5R3 | c.-49+27673C>G (n.-49+27673C>G) c.828C>G (p.Val276=) | |
| 22 | g.42693124G>T | CA515072076 | A4GALT,CYB5R3 | c.-49+27673C>A (n.-49+27673C>A) c.828C>A (p.Val276=) | |
| 22 | g.42693125A>C | CA411810640 | A4GALT,CYB5R3 | c.-49+27672T>G (n.-49+27672T>G) c.827T>G (p.Val276Gly) | |
| 22 | g.42693125A>G | CA411810642 | A4GALT,CYB5R3 | c.-49+27672T>C (n.-49+27672T>C) c.827T>C (p.Val276Ala) | dbSNP |
| 22 | g.42693125A>T | CA411810644 | A4GALT,CYB5R3 | c.-49+27672T>A (n.-49+27672T>A) c.827T>A (p.Val276Asp) | |
| 22 | g.42693126C>A | CA411810646 | A4GALT,CYB5R3 | c.-49+27671G>T (n.-49+27671G>T) c.826G>T (p.Val276Phe) | gnomAD v4 |
| 22 | g.42693126C= | CA2406870127 | A4GALT,CYB5R3 | c.-49+27671G= (n.-49+27671G=) c.826G= (p.Val276=) | |
| 22 | g.42693126C>G | CA411810648 | A4GALT,CYB5R3 | c.-49+27671G>C (n.-49+27671G>C) c.826G>C (p.Val276Leu) | |
| 22 | g.42693126C>T | CA10270199 | A4GALT,CYB5R3 | c.-49+27671G>A (n.-49+27671G>A) c.826G>A (p.Val276Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693127G>A | CA10270200 | A4GALT,CYB5R3 | c.-49+27670C>T (n.-49+27670C>T) c.825C>T (p.Gly275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693127G>C | CA515072083 | A4GALT,CYB5R3 | c.-49+27670C>G (n.-49+27670C>G) c.825C>G (p.Gly275=) | |
| 22 | g.42693127G= | CA2406870128 | A4GALT,CYB5R3 | c.-49+27670C= (n.-49+27670C=) c.825C= (p.Gly275=) | |
| 22 | g.42693127G>T | CA515072084 | A4GALT,CYB5R3 | c.-49+27670C>A (n.-49+27670C>A) c.825C>A (p.Gly275=) | gnomAD v4 |
| 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.42693128C>A | CA411810652 | A4GALT,CYB5R3 | c.-49+27669G>T (n.-49+27669G>T) c.824G>T (p.Gly275Val) | |
| 22 | g.42693128C= | CA2406870129 | A4GALT,CYB5R3 | c.-49+27669G= (n.-49+27669G=) c.824G= (p.Gly275=) | |
| 22 | g.42693128C>G | CA411810655 | A4GALT,CYB5R3 | c.-49+27669G>C (n.-49+27669G>C) c.824G>C (p.Gly275Ala) | |
| 22 | g.42693128C>T | CA10270201 | A4GALT,CYB5R3 | c.-49+27669G>A (n.-49+27669G>A) c.824G>A (p.Gly275Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693129C>A | CA411810658 | A4GALT,CYB5R3 | c.-49+27668G>T (n.-49+27668G>T) c.823G>T (p.Gly275Cys) | dbSNP gnomAD v2 |
| 22 | g.42693129C= | CA2406870130 | A4GALT,CYB5R3 | c.-49+27668G= (n.-49+27668G=) c.823G= (p.Gly275=) | |
| 22 | g.42693129C>G | CA411810660 | A4GALT,CYB5R3 | c.-49+27668G>C (n.-49+27668G>C) c.823G>C (p.Gly275Arg) | |
| 22 | g.42693129C>T | CA10270202 | A4GALT,CYB5R3 | c.-49+27668G>A (n.-49+27668G>A) c.823G>A (p.Gly275Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693130G>A | CA10270203 | A4GALT,CYB5R3 | c.-49+27667C>T (n.-49+27667C>T) c.822C>T (p.Arg274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693130G>C | CA515072098 | A4GALT,CYB5R3 | c.-49+27667C>G (n.-49+27667C>G) c.822C>G (p.Arg274=) | |
| 22 | g.42693130G= | CA2406870131 | A4GALT,CYB5R3 | c.-49+27667C= (n.-49+27667C=) c.822C= (p.Arg274=) | |
| 22 | g.42693130G>T | CA515072100 | A4GALT,CYB5R3 | c.-49+27667C>A (n.-49+27667C>A) c.822C>A (p.Arg274=) | |
| 22 | g.42693131C>A | CA411810665 | A4GALT,CYB5R3 | c.-49+27666G>T (n.-49+27666G>T) c.821G>T (p.Arg274Leu) | |
| 22 | g.42693131C= | CA2406870132 | A4GALT,CYB5R3 | c.-49+27666G= (n.-49+27666G=) c.821G= (p.Arg274=) | |
| 22 | g.42693131C>G | CA411810667 | A4GALT,CYB5R3 | c.-49+27666G>C (n.-49+27666G>C) c.821G>C (p.Arg274Pro) | |
| 22 | g.42693131C>T | CA10270204 | A4GALT,CYB5R3 | c.-49+27666G>A (n.-49+27666G>A) c.821G>A (p.Arg274His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693132G>A | CA10270205 | A4GALT,CYB5R3 | c.-49+27665C>T (n.-49+27665C>T) c.820C>T (p.Arg274Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693132G>C | CA411810672 | A4GALT,CYB5R3 | c.-49+27665C>G (n.-49+27665C>G) c.820C>G (p.Arg274Gly) | |
| 22 | g.42693132G= | CA2406870133 | A4GALT,CYB5R3 | c.-49+27665C= (n.-49+27665C=) c.820C= (p.Arg274=) | |
| 22 | g.42693132G>T | CA411810674 | A4GALT,CYB5R3 | c.-49+27665C>A (n.-49+27665C>A) c.820C>A (p.Arg274Ser) | |
| 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) | |
| 22 | g.42693146T>C | CA411810739 | A4GALT,CYB5R3 | c.-49+27651A>G (n.-49+27651A>G) c.806A>G (p.Glu269Gly) | |
| 22 | g.42693146T>G | CA411810735 | A4GALT,CYB5R3 | c.-49+27651A>C (n.-49+27651A>C) c.806A>C (p.Glu269Ala) | |
| 22 | g.42693147del | CA2561673320 | A4GALT,CYB5R3 | c.-49+27650del (n.-49+27650del) c.805del (p.Glu269ArgfsTer?) | |
| 22 | g.42693147C>A | CA411810741 | A4GALT,CYB5R3 | c.-49+27650G>T (n.-49+27650G>T) c.805G>T (p.Glu269Ter) | |
| 22 | g.42693147C= | CA2406870142 | A4GALT,CYB5R3 | c.-49+27650G= (n.-49+27650G=) c.805G= (p.Glu269=) | |
| 22 | g.42693147C>G | CA411810743 | A4GALT,CYB5R3 | c.-49+27650G>C (n.-49+27650G>C) c.805G>C (p.Glu269Gln) | |
| 22 | g.42693147C>T | CA10270208 | A4GALT,CYB5R3 | c.-49+27650G>A (n.-49+27650G>A) c.805G>A (p.Glu269Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693148G>A | CA515072177 | A4GALT,CYB5R3 | c.-49+27649C>T (n.-49+27649C>T) c.804C>T (p.Ala268=) | gnomAD v4 |
| 22 | g.42693148G>C | CA324732181 | A4GALT,CYB5R3 | c.-49+27649C>G (n.-49+27649C>G) c.804C>G (p.Ala268=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693148G= | CA2406870143 | A4GALT,CYB5R3 | c.-49+27649C= (n.-49+27649C=) c.804C= (p.Ala268=) | |
| 22 | g.42693148G>T | CA515072180 | A4GALT,CYB5R3 | c.-49+27649C>A (n.-49+27649C>A) c.804C>A (p.Ala268=) | |
| 22 | g.42693149G>A | CA411810746 | A4GALT,CYB5R3 | c.-49+27648C>T (n.-49+27648C>T) c.803C>T (p.Ala268Val) | |
| 22 | g.42693149G>C | CA411810748 | A4GALT,CYB5R3 | c.-49+27648C>G (n.-49+27648C>G) c.803C>G (p.Ala268Gly) | gnomAD v4 |
| 22 | g.42693149G>T | CA411810750 | A4GALT,CYB5R3 | c.-49+27648C>A (n.-49+27648C>A) c.803C>A (p.Ala268Asp) | |
| 22 | g.42693150C>A | CA411810751 | A4GALT,CYB5R3 | c.-49+27647G>T (n.-49+27647G>T) c.802G>T (p.Ala268Ser) | |
| 22 | g.42693150C>G | CA411810753 | A4GALT,CYB5R3 | c.-49+27647G>C (n.-49+27647G>C) c.802G>C (p.Ala268Pro) | |
| 22 | g.42693150C>T | CA411810755 | A4GALT,CYB5R3 | c.-49+27647G>A (n.-49+27647G>A) c.802G>A (p.Ala268Thr) | |
| 22 | g.42693150_42693151insG | CA2567588268 | A4GALT,CYB5R3 | c.-49+27646_-49+27647insC (n.-49+27646_-49+27647insC) c.801_802insC (p.Ala268ArgfsTer15) | |
| 22 | g.42693151C>A | CA515072194 | A4GALT,CYB5R3 | c.-49+27646G>T (n.-49+27646G>T) c.801G>T (p.Leu267=) | |
| 22 | g.42693151C>G | CA515072195 | A4GALT,CYB5R3 | c.-49+27646G>C (n.-49+27646G>C) c.801G>C (p.Leu267=) | gnomAD v4 |
| 22 | g.42693151C>T | CA515072197 | A4GALT,CYB5R3 | c.-49+27646G>A (n.-49+27646G>A) c.801G>A (p.Leu267=) | |
| 22 | g.42693152A>C | CA411810757 | A4GALT,CYB5R3 | c.-49+27645T>G (n.-49+27645T>G) c.800T>G (p.Leu267Arg) | |
| 22 | g.42693152A>G | CA411810759 | A4GALT,CYB5R3 | c.-49+27645T>C (n.-49+27645T>C) c.800T>C (p.Leu267Pro) | gnomAD v4 |
| 22 | g.42693152A>T | CA411810761 | A4GALT,CYB5R3 | c.-49+27645T>A (n.-49+27645T>A) c.800T>A (p.Leu267Gln) | gnomAD v4 |
| 22 | g.42693152_42693162delinsAGGCTGCGGAT | CA2406870144 | A4GALT,CYB5R3 | c.-49+27635_-49+27645delinsATCCGCAGCCT (n.-49+27635_-49+27645delinsATCCGCAGCCT) c.790_800delinsATCCGCAGCCT (p.Ile264=) | |
| 22 | g.42693153G>A | CA515072205 | A4GALT,CYB5R3 | c.-49+27644C>T (n.-49+27644C>T) c.799C>T (p.Leu267=) | dbSNP gnomAD v2 |
| 22 | g.42693153G>C | CA411810762 | A4GALT,CYB5R3 | c.-49+27644C>G (n.-49+27644C>G) c.799C>G (p.Leu267Val) | |
| 22 | g.42693153G= | CA2406870145 | A4GALT,CYB5R3 | c.-49+27644C= (n.-49+27644C=) c.799C= (p.Leu267=) | |
| 22 | g.42693153G>T | CA411810764 | A4GALT,CYB5R3 | c.-49+27644C>A (n.-49+27644C>A) c.799C>A (p.Leu267Met) | |
| 22 | g.42693155_42693164del | CA753383075 | A4GALT,CYB5R3 | c.-49+27635_-49+27644del (n.-49+27635_-49+27644del) c.790_799del (p.Ile264TrpfsTer?) | dbSNP |
| 22 | g.42693154G>A | CA515072209 | A4GALT,CYB5R3 | c.-49+27643C>T (n.-49+27643C>T) c.798C>T (p.Ser266=) | |
| 22 | g.42693154G>C | CA10270209 | A4GALT,CYB5R3 | c.-49+27643C>G (n.-49+27643C>G) c.798C>G (p.Ser266Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693154G= | CA2406870146 | A4GALT,CYB5R3 | c.-49+27643C= (n.-49+27643C=) c.798C= (p.Ser266=) | |
| 22 | g.42693154G>T | CA411810767 | A4GALT,CYB5R3 | c.-49+27643C>A (n.-49+27643C>A) c.798C>A (p.Ser266Arg) | dbSNP gnomAD v4 |
| 22 | g.42693155C>A | CA411810769 | A4GALT,CYB5R3 | c.-49+27642G>T (n.-49+27642G>T) c.797G>T (p.Ser266Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693155C= | CA2406870147 | A4GALT,CYB5R3 | c.-49+27642G= (n.-49+27642G=) c.797G= (p.Ser266=) | |
| 22 | g.42693155C>G | CA411810770 | A4GALT,CYB5R3 | c.-49+27642G>C (n.-49+27642G>C) c.797G>C (p.Ser266Thr) | |
| 22 | g.42693155C>T | CA411810771 | A4GALT,CYB5R3 | c.-49+27642G>A (n.-49+27642G>A) c.797G>A (p.Ser266Asn) | |
| 22 | g.42693156T>A | CA411810773 | A4GALT,CYB5R3 | c.-49+27641A>T (n.-49+27641A>T) c.796A>T (p.Ser266Cys) | |
| 22 | g.42693156T>C | CA411810775 | A4GALT,CYB5R3 | c.-49+27641A>G (n.-49+27641A>G) c.796A>G (p.Ser266Gly) | |
| 22 | g.42693156T>G | CA411810777 | A4GALT,CYB5R3 | c.-49+27641A>C (n.-49+27641A>C) c.796A>C (p.Ser266Arg) | |
| 22 | g.42693157G>A | CA10270210 | A4GALT,CYB5R3 | c.-49+27640C>T (n.-49+27640C>T) c.795C>T (p.Arg265=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693157G>C | CA515072226 | A4GALT,CYB5R3 | c.-49+27640C>G (n.-49+27640C>G) c.795C>G (p.Arg265=) | |
| 22 | g.42693157G= | CA2406870148 | A4GALT,CYB5R3 | c.-49+27640C= (n.-49+27640C=) c.795C= (p.Arg265=) | |
| 22 | g.42693157G>T | CA515072223 | A4GALT,CYB5R3 | c.-49+27640C>A (n.-49+27640C>A) c.795C>A (p.Arg265=) | |
| 22 | g.42693158C>A | CA10270212 | A4GALT,CYB5R3 | c.-49+27639G>T (n.-49+27639G>T) c.794G>T (p.Arg265Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693158C= | CA2406870149 | A4GALT,CYB5R3 | c.-49+27639G= (n.-49+27639G=) c.794G= (p.Arg265=) | |
| 22 | g.42693158C>G | CA411810783 | A4GALT,CYB5R3 | c.-49+27639G>C (n.-49+27639G>C) c.794G>C (p.Arg265Pro) | |
| 22 | g.42693158C>T | CA10270211 | A4GALT,CYB5R3 | c.-49+27639G>A (n.-49+27639G>A) c.794G>A (p.Arg265His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693159G>A | CA10270213 | A4GALT,CYB5R3 | c.-49+27638C>T (n.-49+27638C>T) c.793C>T (p.Arg265Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693159G>C | CA411810787 | A4GALT,CYB5R3 | c.-49+27638C>G (n.-49+27638C>G) c.793C>G (p.Arg265Gly) | gnomAD v4 |
| 22 | g.42693159G= | CA2406870150 | A4GALT,CYB5R3 | c.-49+27638C= (n.-49+27638C=) c.793C= (p.Arg265=) | |
| 22 | g.42693159G>T | CA411810788 | A4GALT,CYB5R3 | c.-49+27638C>A (n.-49+27638C>A) c.793C>A (p.Arg265Ser) | gnomAD v4 |
| 22 | g.42693160G>A | CA515072246 | A4GALT,CYB5R3 | c.-49+27637C>T (n.-49+27637C>T) c.792C>T (p.Ile264=) | gnomAD v4 |
| 22 | g.42693160G>C | CA411810791 | A4GALT,CYB5R3 | c.-49+27637C>G (n.-49+27637C>G) c.792C>G (p.Ile264Met) | |
| 22 | g.42693160G>T | CA515072248 | A4GALT,CYB5R3 | c.-49+27637C>A (n.-49+27637C>A) c.792C>A (p.Ile264=) | gnomAD v4 |
| 22 | g.42693161A= | CA2406870151 | A4GALT,CYB5R3 | c.-49+27636T= (n.-49+27636T=) c.791T= (p.Ile264=) | |
| 22 | g.42693161A>C | CA411810793 | A4GALT,CYB5R3 | c.-49+27636T>G (n.-49+27636T>G) c.791T>G (p.Ile264Ser) | gnomAD v4 |
| 22 | g.42693161A>G | CA411810796 | A4GALT,CYB5R3 | c.-49+27636T>C (n.-49+27636T>C) c.791T>C (p.Ile264Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693161A>T | CA411810794 | A4GALT,CYB5R3 | c.-49+27636T>A (n.-49+27636T>A) c.791T>A (p.Ile264Asn) | gnomAD v4 |
| 22 | g.42693162T>A | CA411810797 | A4GALT,CYB5R3 | c.-49+27635A>T (n.-49+27635A>T) c.790A>T (p.Ile264Phe) | |
| 22 | g.42693162T>C | CA411810799 | A4GALT,CYB5R3 | c.-49+27635A>G (n.-49+27635A>G) c.790A>G (p.Ile264Val) | gnomAD v4 |
| 22 | g.42693162T>G | CA411810801 | A4GALT,CYB5R3 | c.-49+27635A>C (n.-49+27635A>C) c.790A>C (p.Ile264Leu) | |
| 22 | g.42693163G>A | CA10270214 | A4GALT,CYB5R3 | c.-49+27634C>T (n.-49+27634C>T) c.789C>T (p.Ser263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693163G>C | CA515072260 | A4GALT,CYB5R3 | c.-49+27634C>G (n.-49+27634C>G) c.789C>G (p.Ser263=) | |
| 22 | g.42693163G= | CA2406870152 | A4GALT,CYB5R3 | c.-49+27634C= (n.-49+27634C=) c.789C= (p.Ser263=) | |
| 22 | g.42693163G>T | CA515072263 | A4GALT,CYB5R3 | c.-49+27634C>A (n.-49+27634C>A) c.789C>A (p.Ser263=) | gnomAD v4 |
| 22 | g.42693164G>A | CA411810804 | A4GALT,CYB5R3 | c.-49+27633C>T (n.-49+27633C>T) c.788C>T (p.Ser263Phe) | dbSNP |
| 22 | g.42693164G>C | CA411810806 | A4GALT,CYB5R3 | c.-49+27633C>G (n.-49+27633C>G) c.788C>G (p.Ser263Cys) | |
| 22 | g.42693164G= | CA2406870153 | A4GALT,CYB5R3 | c.-49+27633C= (n.-49+27633C=) c.788C= (p.Ser263=) | |
| 22 | g.42693164G>T | CA411810807 | A4GALT,CYB5R3 | c.-49+27633C>A (n.-49+27633C>A) c.788C>A (p.Ser263Tyr) | gnomAD v4 |
| 22 | g.42693165A= | CA2406870154 | A4GALT,CYB5R3 | c.-49+27632T= (n.-49+27632T=) c.787T= (p.Ser263=) | |
| 22 | g.42693165A>C | CA411810809 | A4GALT,CYB5R3 | c.-49+27632T>G (n.-49+27632T>G) c.787T>G (p.Ser263Ala) | dbSNP gnomAD v4 |
| 22 | g.42693165A>G | CA411810810 | A4GALT,CYB5R3 | c.-49+27632T>C (n.-49+27632T>C) c.787T>C (p.Ser263Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693165A>T | CA411810812 | A4GALT,CYB5R3 | c.-49+27632T>A (n.-49+27632T>A) c.787T>A (p.Ser263Thr) | |
| 22 | g.42693166A>C | CA411810814 | A4GALT,CYB5R3 | c.-49+27631T>G (n.-49+27631T>G) c.786T>G (p.Cys262Trp) | |
| 22 | g.42693166A>G | CA515072280 | A4GALT,CYB5R3 | c.-49+27631T>C (n.-49+27631T>C) c.786T>C (p.Cys262=) | |
| 22 | g.42693166A>T | CA411810816 | A4GALT,CYB5R3 | c.-49+27631T>A (n.-49+27631T>A) c.786T>A (p.Cys262Ter) | gnomAD v4 |
| 22 | g.42693166_42693169delinsACAC | CA2406870155 | A4GALT,CYB5R3 | c.-49+27628_-49+27631delinsGTGT (n.-49+27628_-49+27631delinsGTGT) c.783_786delinsGTGT (p.Trp261=) | |
| 22 | g.42693167C>A | CA411810822 | A4GALT,CYB5R3 | c.-49+27630G>T (n.-49+27630G>T) c.785G>T (p.Cys262Phe) | |
| 22 | g.42693167C= | CA2406870156 | A4GALT,CYB5R3 | c.-49+27630G= (n.-49+27630G=) c.785G= (p.Cys262=) | |
| 22 | g.42693167C>G | CA411810821 | A4GALT,CYB5R3 | c.-49+27630G>C (n.-49+27630G>C) c.785G>C (p.Cys262Ser) | |
| 22 | g.42693167C>T | CA10270216 | A4GALT,CYB5R3 | c.-49+27630G>A (n.-49+27630G>A) c.785G>A (p.Cys262Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693170_42693172del | CA10270215 | A4GALT,CYB5R3 | c.-49+27628_-49+27630del (n.-49+27628_-49+27630del) c.783_785del (p.Trp261del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693168A= | CA2406870157 | A4GALT,CYB5R3 | c.-49+27629T= (n.-49+27629T=) c.784T= (p.Cys262=) | |
| 22 | g.42693168A>C | CA411810823 | A4GALT,CYB5R3 | c.-49+27629T>G (n.-49+27629T>G) c.784T>G (p.Cys262Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693168A>G | CA411810826 | A4GALT,CYB5R3 | c.-49+27629T>C (n.-49+27629T>C) c.784T>C (p.Cys262Arg) | |
| 22 | g.42693168A>T | CA411810827 | A4GALT,CYB5R3 | c.-49+27629T>A (n.-49+27629T>A) c.784T>A (p.Cys262Ser) | |
| 22 | g.42693169C>A | CA411810830 | A4GALT,CYB5R3 | c.-49+27628G>T (n.-49+27628G>T) c.783G>T (p.Trp261Cys) | |
| 22 | g.42693169C= | CA2406870158 | A4GALT,CYB5R3 | c.-49+27628G= (n.-49+27628G=) c.783G= (p.Trp261=) | |
| 22 | g.42693169C>G | CA10270217 | A4GALT,CYB5R3 | c.-49+27628G>C (n.-49+27628G>C) c.783G>C (p.Trp261Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693169C>T | CA115687 | A4GALT,CYB5R3 | c.-49+27628G>A (n.-49+27628G>A) c.783G>A (p.Trp261Ter) | ClinVar dbSNP |
| 22 | g.42693170C>A | CA411810834 | A4GALT,CYB5R3 | c.-49+27627G>T (n.-49+27627G>T) c.782G>T (p.Trp261Leu) | |
| 22 | g.42693170C>G | CA411810835 | A4GALT,CYB5R3 | c.-49+27627G>C (n.-49+27627G>C) c.782G>C (p.Trp261Ser) | |
| 22 | g.42693170C>T | CA411810837 | A4GALT,CYB5R3 | c.-49+27627G>A (n.-49+27627G>A) c.782G>A (p.Trp261Ter) | gnomAD v4 |
| 22 | g.42693171A>C | CA411810839 | A4GALT,CYB5R3 | c.-49+27626T>G (n.-49+27626T>G) c.781T>G (p.Trp261Gly) | |
| 22 | g.42693171A>G | CA411810841 | A4GALT,CYB5R3 | c.-49+27626T>C (n.-49+27626T>C) c.781T>C (p.Trp261Arg) | |
| 22 | g.42693171A>T | CA411810843 | A4GALT,CYB5R3 | c.-49+27626T>A (n.-49+27626T>A) c.781T>A (p.Trp261Arg) | |
| 22 | g.42693172C>A | CA411810846 | A4GALT,CYB5R3 | c.-49+27625G>T (n.-49+27625G>T) c.780G>T (p.Lys260Asn) | |
| 22 | g.42693172C= | CA2406870159 | A4GALT,CYB5R3 | c.-49+27625G= (n.-49+27625G=) c.780G= (p.Lys260=) | |
| 22 | g.42693172C>G | CA411810850 | A4GALT,CYB5R3 | c.-49+27625G>C (n.-49+27625G>C) c.780G>C (p.Lys260Asn) | |
| 22 | g.42693172C>T | CA10270218 | A4GALT,CYB5R3 | c.-49+27625G>A (n.-49+27625G>A) c.780G>A (p.Lys260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693175_42693177del | CA2657079410 | A4GALT,CYB5R3 | c.-49+27623_-49+27625del (n.-49+27623_-49+27625del) c.778_780del (p.Lys260del) | gnomAD v4 |
| 22 | g.42693173T>A | CA411810852 | A4GALT,CYB5R3 | c.-49+27624A>T (n.-49+27624A>T) c.779A>T (p.Lys260Met) | |
| 22 | g.42693173T>C | CA411810854 | A4GALT,CYB5R3 | c.-49+27624A>G (n.-49+27624A>G) c.779A>G (p.Lys260Arg) | |
| 22 | g.42693173T>G | CA411810856 | A4GALT,CYB5R3 | c.-49+27624A>C (n.-49+27624A>C) c.779A>C (p.Lys260Thr) | |
| 22 | g.42693174T>A | CA411810859 | A4GALT,CYB5R3 | c.-49+27623A>T (n.-49+27623A>T) c.778A>T (p.Lys260Ter) | |
| 22 | g.42693174T>C | CA411810860 | A4GALT,CYB5R3 | c.-49+27623A>G (n.-49+27623A>G) c.778A>G (p.Lys260Glu) | |
| 22 | g.42693174T>G | CA411810862 | A4GALT,CYB5R3 | c.-49+27623A>C (n.-49+27623A>C) c.778A>C (p.Lys260Gln) | |
| 22 | g.42693175C>A | CA411810867 | A4GALT,CYB5R3 | c.-49+27622G>T (n.-49+27622G>T) c.777G>T (p.Lys259Asn) | gnomAD v4 COSMIC |
| 22 | g.42693175C= | CA2406870160 | A4GALT,CYB5R3 | c.-49+27622G= (n.-49+27622G=) c.777G= (p.Lys259=) | |
| 22 | g.42693175C>G | CA411810865 | A4GALT,CYB5R3 | c.-49+27622G>C (n.-49+27622G>C) c.777G>C (p.Lys259Asn) | |
| 22 | g.42693175C>T | CA515072337 | A4GALT,CYB5R3 | c.-49+27622G>A (n.-49+27622G>A) c.777G>A (p.Lys259=) | dbSNP gnomAD v2 |
| 22 | g.42693176T>A | CA411810869 | A4GALT,CYB5R3 | c.-49+27621A>T (n.-49+27621A>T) c.776A>T (p.Lys259Met) | |
| 22 | g.42693176T>C | CA411810871 | A4GALT,CYB5R3 | c.-49+27621A>G (n.-49+27621A>G) c.776A>G (p.Lys259Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42693176T>G | CA411810873 | A4GALT,CYB5R3 | c.-49+27621A>C (n.-49+27621A>C) c.776A>C (p.Lys259Thr) | |
| 22 | g.42693177T>A | CA411810875 | A4GALT,CYB5R3 | c.-49+27620A>T (n.-49+27620A>T) c.775A>T (p.Lys259Ter) | |
| 22 | g.42693177T>C | CA411810876 | A4GALT,CYB5R3 | c.-49+27620A>G (n.-49+27620A>G) c.775A>G (p.Lys259Glu) | gnomAD v4 |
| 22 | g.42693177T>G | CA411810877 | A4GALT,CYB5R3 | c.-49+27620A>C (n.-49+27620A>C) c.775A>C (p.Lys259Gln) | |
| 22 | g.42693178G>A | CA10270219 | A4GALT,CYB5R3 | c.-49+27619C>T (n.-49+27619C>T) c.774C>T (p.Phe258=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693178G>C | CA411810878 | A4GALT,CYB5R3 | c.-49+27619C>G (n.-49+27619C>G) c.774C>G (p.Phe258Leu) | |
| 22 | g.42693178G= | CA2406870161 | A4GALT,CYB5R3 | c.-49+27619C= (n.-49+27619C=) c.774C= (p.Phe258=) | |
| 22 | g.42693178G>T | CA411810879 | A4GALT,CYB5R3 | c.-49+27619C>A (n.-49+27619C>A) c.774C>A (p.Phe258Leu) | |
| 22 | g.42693179A>C | CA411811392 | A4GALT,CYB5R3 | c.-49+27618T>G (n.-49+27618T>G) c.773T>G (p.Phe258Cys) | |
| 22 | g.42693179A>G | CA411811393 | A4GALT,CYB5R3 | c.-49+27618T>C (n.-49+27618T>C) c.773T>C (p.Phe258Ser) | |
| 22 | g.42693179A>T | CA411811394 | A4GALT,CYB5R3 | c.-49+27618T>A (n.-49+27618T>A) c.773T>A (p.Phe258Tyr) | |
| 22 | g.42693180A>C | CA411811395 | A4GALT,CYB5R3 | c.-49+27617T>G (n.-49+27617T>G) c.772T>G (p.Phe258Val) | |
| 22 | g.42693180A>G | CA411811396 | A4GALT,CYB5R3 | c.-49+27617T>C (n.-49+27617T>C) c.772T>C (p.Phe258Leu) | gnomAD v4 |
| 22 | g.42693180A>T | CA411811397 | A4GALT,CYB5R3 | c.-49+27617T>A (n.-49+27617T>A) c.772T>A (p.Phe258Ile) | |
| 22 | g.42693181G>A | CA515070707 | A4GALT,CYB5R3 | c.-49+27616C>T (n.-49+27616C>T) c.771C>T (p.Val257=) | |
| 22 | g.42693181G>C | CA515070709 | A4GALT,CYB5R3 | c.-49+27616C>G (n.-49+27616C>G) c.771C>G (p.Val257=) | |
| 22 | g.42693181G>T | CA515070711 | A4GALT,CYB5R3 | c.-49+27616C>A (n.-49+27616C>A) c.771C>A (p.Val257=) | gnomAD v4 |
| 22 | g.42693182A>C | CA411811398 | A4GALT,CYB5R3 | c.-49+27615T>G (n.-49+27615T>G) c.770T>G (p.Val257Gly) | |
| 22 | g.42693182A>G | CA411811399 | A4GALT,CYB5R3 | c.-49+27615T>C (n.-49+27615T>C) c.770T>C (p.Val257Ala) | |
| 22 | g.42693182A>T | CA411811400 | A4GALT,CYB5R3 | c.-49+27615T>A (n.-49+27615T>A) c.770T>A (p.Val257Asp) | gnomAD v4 |
| 22 | g.42693182_42693183delinsAC | CA2406870162 | A4GALT,CYB5R3 | c.-49+27614_-49+27615delinsGT (n.-49+27614_-49+27615delinsGT) c.769_770delinsGT (p.Val257=) | |
| 22 | g.42693183C>A | CA411811401 | A4GALT,CYB5R3 | c.-49+27614G>T (n.-49+27614G>T) c.769G>T (p.Val257Phe) | |
| 22 | g.42693183C= | CA2406870163 | A4GALT,CYB5R3 | c.-49+27614G= (n.-49+27614G=) c.769G= (p.Val257=) | |
| 22 | g.42693183C>G | CA411811402 | A4GALT,CYB5R3 | c.-49+27614G>C (n.-49+27614G>C) c.769G>C (p.Val257Leu) | |
| 22 | g.42693183C>T | CA411811403 | A4GALT,CYB5R3 | c.-49+27614G>A (n.-49+27614G>A) c.769G>A (p.Val257Ile) | dbSNP gnomAD v2 |
| 22 | g.42693185del | CA10270220 | A4GALT,CYB5R3 | c.-49+27614del (n.-49+27614del) c.769del (p.Val257SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693184C>A | CA515070723 | A4GALT,CYB5R3 | c.-49+27613G>T (n.-49+27613G>T) c.768G>T (p.Arg256=) | gnomAD v4 |
| 22 | g.42693184C>G | CA515070721 | A4GALT,CYB5R3 | c.-49+27613G>C (n.-49+27613G>C) c.768G>C (p.Arg256=) | gnomAD v4 |
| 22 | g.42693184C>T | CA515070720 | A4GALT,CYB5R3 | c.-49+27613G>A (n.-49+27613G>A) c.768G>A (p.Arg256=) | gnomAD v4 |
| 22 | g.42693185C>A | CA411811404 | A4GALT,CYB5R3 | c.-49+27612G>T (n.-49+27612G>T) c.767G>T (p.Arg256Leu) | gnomAD v4 |
| 22 | g.42693185C= | CA2406870164 | A4GALT,CYB5R3 | c.-49+27612G= (n.-49+27612G=) c.767G= (p.Arg256=) | |
| 22 | g.42693185C>G | CA411811406 | A4GALT,CYB5R3 | c.-49+27612G>C (n.-49+27612G>C) c.767G>C (p.Arg256Pro) | |
| 22 | g.42693185C>T | CA411811405 | A4GALT,CYB5R3 | c.-49+27612G>A (n.-49+27612G>A) c.767G>A (p.Arg256Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693186G>A | CA411811407 | A4GALT,CYB5R3 | c.-49+27611C>T (n.-49+27611C>T) c.766C>T (p.Arg256Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693186G>C | CA411811408 | A4GALT,CYB5R3 | c.-49+27611C>G (n.-49+27611C>G) c.766C>G (p.Arg256Gly) | |
| 22 | g.42693186G= | CA2406870165 | A4GALT,CYB5R3 | c.-49+27611C= (n.-49+27611C=) c.766C= (p.Arg256=) | |
| 22 | g.42693186G>T | CA515070731 | A4GALT,CYB5R3 | c.-49+27611C>A (n.-49+27611C>A) c.766C>A (p.Arg256=) | |
| 22 | g.42693187C>A | CA324732201 | A4GALT,CYB5R3 | c.-49+27610G>T (n.-49+27610G>T) c.765G>T (p.Thr255=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693187C= | CA2406870166 | A4GALT,CYB5R3 | c.-49+27610G= (n.-49+27610G=) c.765G= (p.Thr255=) | |
| 22 | g.42693187C>G | CA515070734 | A4GALT,CYB5R3 | c.-49+27610G>C (n.-49+27610G>C) c.765G>C (p.Thr255=) | |
| 22 | g.42693187C>T | CA10270221 | A4GALT,CYB5R3 | c.-49+27610G>A (n.-49+27610G>A) c.765G>A (p.Thr255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693188G>A | CA411811409 | A4GALT,CYB5R3 | c.-49+27609C>T (n.-49+27609C>T) c.764C>T (p.Thr255Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693188G>C | CA411811410 | A4GALT,CYB5R3 | c.-49+27609C>G (n.-49+27609C>G) c.764C>G (p.Thr255Arg) | |
| 22 | g.42693188G= | CA2406870167 | A4GALT,CYB5R3 | c.-49+27609C= (n.-49+27609C=) c.764C= (p.Thr255=) | |
| 22 | g.42693188G>T | CA10270222 | A4GALT,CYB5R3 | c.-49+27609C>A (n.-49+27609C>A) c.764C>A (p.Thr255Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693189T>A | CA411811411 | A4GALT,CYB5R3 | c.-49+27608A>T (n.-49+27608A>T) c.763A>T (p.Thr255Ser) | |
| 22 | g.42693189T>C | CA411811412 | A4GALT,CYB5R3 | c.-49+27608A>G (n.-49+27608A>G) c.763A>G (p.Thr255Ala) | |
| 22 | g.42693189T>G | CA411811413 | A4GALT,CYB5R3 | c.-49+27608A>C (n.-49+27608A>C) c.763A>C (p.Thr255Pro) | |
| 22 | g.42693190G>A | CA10270223 | A4GALT,CYB5R3 | c.-49+27607C>T (n.-49+27607C>T) c.762C>T (p.Leu254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693190G>C | CA515070739 | A4GALT,CYB5R3 | c.-49+27607C>G (n.-49+27607C>G) c.762C>G (p.Leu254=) | gnomAD v4 |
| 22 | g.42693190G= | CA2406870168 | A4GALT,CYB5R3 | c.-49+27607C= (n.-49+27607C=) c.762C= (p.Leu254=) | |
| 22 | g.42693190G>T | CA515070742 | A4GALT,CYB5R3 | c.-49+27607C>A (n.-49+27607C>A) c.762C>A (p.Leu254=) | gnomAD v4 |
| 22 | g.42693191A>C | CA411811414 | A4GALT,CYB5R3 | c.-49+27606T>G (n.-49+27606T>G) c.761T>G (p.Leu254Arg) | |
| 22 | g.42693191A>G | CA411811415 | A4GALT,CYB5R3 | c.-49+27606T>C (n.-49+27606T>C) c.761T>C (p.Leu254Pro) | |
| 22 | g.42693191A>T | CA411811416 | A4GALT,CYB5R3 | c.-49+27606T>A (n.-49+27606T>A) c.761T>A (p.Leu254His) | |
| 22 | g.42693192G>A | CA411811417 | A4GALT,CYB5R3 | c.-49+27605C>T (n.-49+27605C>T) c.760C>T (p.Leu254Phe) | |
| 22 | g.42693192G>C | CA411811419 | A4GALT,CYB5R3 | c.-49+27605C>G (n.-49+27605C>G) c.760C>G (p.Leu254Val) | |
| 22 | g.42693192G>T | CA411811418 | A4GALT,CYB5R3 | c.-49+27605C>A (n.-49+27605C>A) c.760C>A (p.Leu254Ile) | |
| 22 | g.42693193C>A | CA515070750 | A4GALT,CYB5R3 | c.-49+27604G>T (n.-49+27604G>T) c.759G>T (p.Leu253=) | |
| 22 | g.42693193C= | CA2406870169 | A4GALT,CYB5R3 | c.-49+27604G= (n.-49+27604G=) c.759G= (p.Leu253=) | |
| 22 | g.42693193C>G | CA515070748 | A4GALT,CYB5R3 | c.-49+27604G>C (n.-49+27604G>C) c.759G>C (p.Leu253=) | |
| 22 | g.42693193C>T | CA10270224 | A4GALT,CYB5R3 | c.-49+27604G>A (n.-49+27604G>A) c.759G>A (p.Leu253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693194A>C | CA411811420 | A4GALT,CYB5R3 | c.-49+27603T>G (n.-49+27603T>G) c.758T>G (p.Leu253Arg) | |
| 22 | g.42693194A>G | CA411811421 | A4GALT,CYB5R3 | c.-49+27603T>C (n.-49+27603T>C) c.758T>C (p.Leu253Pro) | |
| 22 | g.42693194A>T | CA411811422 | A4GALT,CYB5R3 | c.-49+27603T>A (n.-49+27603T>A) c.758T>A (p.Leu253Gln) | |
| 22 | g.42693195G>A | CA515070752 | A4GALT,CYB5R3 | c.-49+27602C>T (n.-49+27602C>T) c.757C>T (p.Leu253=) | |
| 22 | g.42693195G>C | CA411811423 | A4GALT,CYB5R3 | c.-49+27602C>G (n.-49+27602C>G) c.757C>G (p.Leu253Val) | |
| 22 | g.42693195G>T | CA411811424 | A4GALT,CYB5R3 | c.-49+27602C>A (n.-49+27602C>A) c.757C>A (p.Leu253Met) | |
| 22 | g.42693196C>A | CA411811425 | A4GALT,CYB5R3 | c.-49+27601G>T (n.-49+27601G>T) c.756G>T (p.Gln252His) | gnomAD v4 |
| 22 | g.42693196C>G | CA411811426 | A4GALT,CYB5R3 | c.-49+27601G>C (n.-49+27601G>C) c.756G>C (p.Gln252His) | |
| 22 | g.42693196C>T | CA515070758 | A4GALT,CYB5R3 | c.-49+27601G>A (n.-49+27601G>A) c.756G>A (p.Gln252=) | |
| 22 | g.42693197T>A | CA411811427 | A4GALT,CYB5R3 | c.-49+27600A>T (n.-49+27600A>T) c.755A>T (p.Gln252Leu) | |
| 22 | g.42693197T>C | CA411811428 | A4GALT,CYB5R3 | c.-49+27600A>G (n.-49+27600A>G) c.755A>G (p.Gln252Arg) | |
| 22 | g.42693197T>G | CA411811429 | A4GALT,CYB5R3 | c.-49+27600A>C (n.-49+27600A>C) c.755A>C (p.Gln252Pro) | |
| 22 | g.42693198G>A | CA411811431 | A4GALT,CYB5R3 | c.-49+27599C>T (n.-49+27599C>T) c.754C>T (p.Gln252Ter) | gnomAD v4 |
| 22 | g.42693198G>C | CA411811432 | A4GALT,CYB5R3 | c.-49+27599C>G (n.-49+27599C>G) c.754C>G (p.Gln252Glu) | |
| 22 | g.42693198G>T | CA411811430 | A4GALT,CYB5R3 | c.-49+27599C>A (n.-49+27599C>A) c.754C>A (p.Gln252Lys) | |
| 22 | g.42693199C>A | CA515070765 | A4GALT,CYB5R3 | c.-49+27598G>T (n.-49+27598G>T) c.753G>T (p.Pro251=) | dbSNP |
| 22 | g.42693199C= | CA2406870170 | A4GALT,CYB5R3 | c.-49+27598G= (n.-49+27598G=) c.753G= (p.Pro251=) | |
| 22 | g.42693199C>G | CA515070763 | A4GALT,CYB5R3 | c.-49+27598G>C (n.-49+27598G>C) c.753G>C (p.Pro251=) | |
| 22 | g.42693199C>T | CA10270225 | A4GALT,CYB5R3 | c.-49+27598G>A (n.-49+27598G>A) c.753G>A (p.Pro251=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693200G>A | CA115685 | A4GALT,CYB5R3 | c.-49+27597C>T (n.-49+27597C>T) c.752C>T (p.Pro251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693200G>C | CA411811433 | A4GALT,CYB5R3 | c.-49+27597C>G (n.-49+27597C>G) c.752C>G (p.Pro251Arg) | |
| 22 | g.42693200G= | CA2406870171 | A4GALT,CYB5R3 | c.-49+27597C= (n.-49+27597C=) c.752C= (p.Pro251=) | |
| 22 | g.42693200G>T | CA10270226 | A4GALT,CYB5R3 | c.-49+27597C>A (n.-49+27597C>A) c.752C>A (p.Pro251Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693201G>A | CA411811434 | A4GALT,CYB5R3 | c.-49+27596C>T (n.-49+27596C>T) c.751C>T (p.Pro251Ser) | gnomAD v4 |
| 22 | g.42693201G>C | CA411811435 | A4GALT,CYB5R3 | c.-49+27596C>G (n.-49+27596C>G) c.751C>G (p.Pro251Ala) | |
| 22 | g.42693201G>T | CA411811436 | A4GALT,CYB5R3 | c.-49+27596C>A (n.-49+27596C>A) c.751C>A (p.Pro251Thr) | |
| 22 | g.42693201_42693221del | CA2695230996 | A4GALT,CYB5R3 | c.-49+27576_-49+27596del (n.-49+27576_-49+27596del) c.731_751del (p.Trp244_Pro251delinsSer) | |
| 22 | g.42693202G>A | CA515070774 | A4GALT,CYB5R3 | c.-49+27595C>T (n.-49+27595C>T) c.750C>T (p.Gly250=) | |
| 22 | g.42693202G>C | CA515070776 | A4GALT,CYB5R3 | c.-49+27595C>G (n.-49+27595C>G) c.750C>G (p.Gly250=) | |
| 22 | g.42693202G= | CA2406870172 | A4GALT,CYB5R3 | c.-49+27595C= (n.-49+27595C=) c.750C= (p.Gly250=) | |
| 22 | g.42693202G>T | CA515070777 | A4GALT,CYB5R3 | c.-49+27595C>A (n.-49+27595C>A) c.750C>A (p.Gly250=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693203C>A | CA411811437 | A4GALT,CYB5R3 | c.-49+27594G>T (n.-49+27594G>T) c.749G>T (p.Gly250Val) | gnomAD v4 |
| 22 | g.42693203C>G | CA411811438 | A4GALT,CYB5R3 | c.-49+27594G>C (n.-49+27594G>C) c.749G>C (p.Gly250Ala) | |
| 22 | g.42693203C>T | CA411811439 | A4GALT,CYB5R3 | c.-49+27594G>A (n.-49+27594G>A) c.749G>A (p.Gly250Asp) | gnomAD v4 |
| 22 | g.42693204C>A | CA411811442 | A4GALT,CYB5R3 | c.-49+27593G>T (n.-49+27593G>T) c.748G>T (p.Gly250Cys) | COSMIC |
| 22 | g.42693204C>G | CA411811440 | A4GALT,CYB5R3 | c.-49+27593G>C (n.-49+27593G>C) c.748G>C (p.Gly250Arg) | |
| 22 | g.42693204C>T | CA411811441 | A4GALT,CYB5R3 | c.-49+27593G>A (n.-49+27593G>A) c.748G>A (p.Gly250Ser) | |
| 22 | g.42693205C>A | CA411811443 | A4GALT,CYB5R3 | c.-49+27592G>T (n.-49+27592G>T) c.747G>T (p.Gln249His) | |
| 22 | g.42693205C= | CA2406870173 | A4GALT,CYB5R3 | c.-49+27592G= (n.-49+27592G=) c.747G= (p.Gln249=) | |
| 22 | g.42693205C>G | CA411811444 | A4GALT,CYB5R3 | c.-49+27592G>C (n.-49+27592G>C) c.747G>C (p.Gln249His) | |
| 22 | g.42693205C>T | CA324732211 | A4GALT,CYB5R3 | c.-49+27592G>A (n.-49+27592G>A) c.747G>A (p.Gln249=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693206T>A | CA411811445 | A4GALT,CYB5R3 | c.-49+27591A>T (n.-49+27591A>T) c.746A>T (p.Gln249Leu) | |
| 22 | g.42693206T>C | CA411811446 | A4GALT,CYB5R3 | c.-49+27591A>G (n.-49+27591A>G) c.746A>G (p.Gln249Arg) | |
| 22 | g.42693206T>G | CA411811447 | A4GALT,CYB5R3 | c.-49+27591A>C (n.-49+27591A>C) c.746A>C (p.Gln249Pro) | gnomAD v4 |
| 22 | g.42693206_42693207delinsTG | CA2406870174 | A4GALT,CYB5R3 | c.-49+27590_-49+27591delinsCA (n.-49+27590_-49+27591delinsCA) c.745_746delinsCA (p.Gln249=) | |
| 22 | g.42693207G>A | CA411811450 | A4GALT,CYB5R3 | c.-49+27590C>T (n.-49+27590C>T) c.745C>T (p.Gln249Ter) | gnomAD v4 |
| 22 | g.42693207G>C | CA411811448 | A4GALT,CYB5R3 | c.-49+27590C>G (n.-49+27590C>G) c.745C>G (p.Gln249Glu) | |
| 22 | g.42693207G>T | CA411811449 | A4GALT,CYB5R3 | c.-49+27590C>A (n.-49+27590C>A) c.745C>A (p.Gln249Lys) | |
| 22 | g.42693208del | CA639829271 | A4GALT,CYB5R3 | c.-49+27590del (n.-49+27590del) c.745del (p.Gln249ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693208G>A | CA515070792 | A4GALT,CYB5R3 | c.-49+27589C>T (n.-49+27589C>T) c.744C>T (p.His248=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693208G>C | CA411811451 | A4GALT,CYB5R3 | c.-49+27589C>G (n.-49+27589C>G) c.744C>G (p.His248Gln) | |
| 22 | g.42693208G= | CA2406870175 | A4GALT,CYB5R3 | c.-49+27589C= (n.-49+27589C=) c.744C= (p.His248=) | |
| 22 | g.42693208G>T | CA411811452 | A4GALT,CYB5R3 | c.-49+27589C>A (n.-49+27589C>A) c.744C>A (p.His248Gln) | |
| 22 | g.42693209T>A | CA411811453 | A4GALT,CYB5R3 | c.-49+27588A>T (n.-49+27588A>T) c.743A>T (p.His248Leu) | |
| 22 | g.42693209T>C | CA411811454 | A4GALT,CYB5R3 | c.-49+27588A>G (n.-49+27588A>G) c.743A>G (p.His248Arg) | |
| 22 | g.42693209T>G | CA411811455 | A4GALT,CYB5R3 | c.-49+27588A>C (n.-49+27588A>C) c.743A>C (p.His248Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693209T= | CA2406870176 | A4GALT,CYB5R3 | c.-49+27588A= (n.-49+27588A=) c.743A= (p.His248=) | |
| 22 | g.42693210G>A | CA411811456 | A4GALT,CYB5R3 | c.-49+27587C>T (n.-49+27587C>T) c.742C>T (p.His248Tyr) | |
| 22 | g.42693210G>C | CA324732213 | A4GALT,CYB5R3 | c.-49+27587C>G (n.-49+27587C>G) c.742C>G (p.His248Asp) | dbSNP |
| 22 | g.42693210G= | CA2406870177 | A4GALT,CYB5R3 | c.-49+27587C= (n.-49+27587C=) c.742C= (p.His248=) | |
| 22 | g.42693210G>T | CA411811457 | A4GALT,CYB5R3 | c.-49+27587C>A (n.-49+27587C>A) c.742C>A (p.His248Asn) | |
| 22 | g.42693211A= | CA2406870178 | A4GALT,CYB5R3 | c.-49+27586T= (n.-49+27586T=) c.741T= (p.Gly247=) | |
| 22 | g.42693211A>C | CA515070801 | A4GALT,CYB5R3 | c.-49+27586T>G (n.-49+27586T>G) c.741T>G (p.Gly247=) | |
| 22 | g.42693211A>G | CA324732215 | A4GALT,CYB5R3 | c.-49+27586T>C (n.-49+27586T>C) c.741T>C (p.Gly247=) | dbSNP gnomAD v4 |
| 22 | g.42693211A>T | CA515070805 | A4GALT,CYB5R3 | c.-49+27586T>A (n.-49+27586T>A) c.741T>A (p.Gly247=) | |
| 22 | g.42693212C>A | CA411811458 | A4GALT,CYB5R3 | c.-49+27585G>T (n.-49+27585G>T) c.740G>T (p.Gly247Val) | |
| 22 | g.42693212C= | CA2406870179 | A4GALT,CYB5R3 | c.-49+27585G= (n.-49+27585G=) c.740G= (p.Gly247=) | |
| 22 | g.42693212C>G | CA411811459 | A4GALT,CYB5R3 | c.-49+27585G>C (n.-49+27585G>C) c.740G>C (p.Gly247Ala) | |
| 22 | g.42693212C>T | CA411811460 | A4GALT,CYB5R3 | c.-49+27585G>A (n.-49+27585G>A) c.740G>A (p.Gly247Asp) | dbSNP |
| 22 | g.42693213C>A | CA411811461 | A4GALT,CYB5R3 | c.-49+27584G>T (n.-49+27584G>T) c.739G>T (p.Gly247Cys) | gnomAD v4 |
| 22 | g.42693213C>G | CA411811463 | A4GALT,CYB5R3 | c.-49+27584G>C (n.-49+27584G>C) c.739G>C (p.Gly247Arg) | |
| 22 | g.42693213C>T | CA411811462 | A4GALT,CYB5R3 | c.-49+27584G>A (n.-49+27584G>A) c.739G>A (p.Gly247Ser) | COSMIC |
| 22 | g.42693214C>A | CA411811464 | A4GALT,CYB5R3 | c.-49+27583G>T (n.-49+27583G>T) c.738G>T (p.Trp246Cys) | gnomAD v4 |
| 22 | g.42693214C= | CA2406870180 | A4GALT,CYB5R3 | c.-49+27583G= (n.-49+27583G=) c.738G= (p.Trp246=) | |
| 22 | g.42693214C>G | CA411811465 | A4GALT,CYB5R3 | c.-49+27583G>C (n.-49+27583G>C) c.738G>C (p.Trp246Cys) | dbSNP gnomAD v4 |
| 22 | g.42693214C>T | CA411811466 | A4GALT,CYB5R3 | c.-49+27583G>A (n.-49+27583G>A) c.738G>A (p.Trp246Ter) | gnomAD v4 |
| 22 | g.42693215C>A | CA411811467 | A4GALT,CYB5R3 | c.-49+27582G>T (n.-49+27582G>T) c.737G>T (p.Trp246Leu) | |
| 22 | g.42693215C>G | CA411811468 | A4GALT,CYB5R3 | c.-49+27582G>C (n.-49+27582G>C) c.737G>C (p.Trp246Ser) | gnomAD v4 |
| 22 | g.42693215C>T | CA411811469 | A4GALT,CYB5R3 | c.-49+27582G>A (n.-49+27582G>A) c.737G>A (p.Trp246Ter) | |
| 22 | g.42693216A>C | CA411811470 | A4GALT,CYB5R3 | c.-49+27581T>G (n.-49+27581T>G) c.736T>G (p.Trp246Gly) | |
| 22 | g.42693216A>G | CA411811471 | A4GALT,CYB5R3 | c.-49+27581T>C (n.-49+27581T>C) c.736T>C (p.Trp246Arg) | |
| 22 | g.42693216A>T | CA411811472 | A4GALT,CYB5R3 | c.-49+27581T>A (n.-49+27581T>A) c.736T>A (p.Trp246Arg) | COSMIC |
| 22 | g.42693217G>A | CA10270227 | A4GALT,CYB5R3 | c.-49+27580C>T (n.-49+27580C>T) c.735C>T (p.Ile245=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693217G>C | CA324732219 | A4GALT,CYB5R3 | c.-49+27580C>G (n.-49+27580C>G) c.735C>G (p.Ile245Met) | dbSNP |
| 22 | g.42693217G= | CA2406870181 | A4GALT,CYB5R3 | c.-49+27580C= (n.-49+27580C=) c.735C= (p.Ile245=) | |
| 22 | g.42693217G>T | CA515070818 | A4GALT,CYB5R3 | c.-49+27580C>A (n.-49+27580C>A) c.735C>A (p.Ile245=) | gnomAD v4 |
| 22 | g.42693218A>C | CA411811475 | A4GALT,CYB5R3 | c.-49+27579T>G (n.-49+27579T>G) c.734T>G (p.Ile245Ser) | |
| 22 | g.42693218A>G | CA411811474 | A4GALT,CYB5R3 | c.-49+27579T>C (n.-49+27579T>C) c.734T>C (p.Ile245Thr) | |
| 22 | g.42693218A>T | CA411811473 | A4GALT,CYB5R3 | c.-49+27579T>A (n.-49+27579T>A) c.734T>A (p.Ile245Asn) | |
| 22 | g.42693219T>A | CA411811476 | A4GALT,CYB5R3 | c.-49+27578A>T (n.-49+27578A>T) c.733A>T (p.Ile245Phe) | gnomAD v4 |
| 22 | g.42693219T>C | CA411811477 | A4GALT,CYB5R3 | c.-49+27578A>G (n.-49+27578A>G) c.733A>G (p.Ile245Val) | |
| 22 | g.42693219T>G | CA411811478 | A4GALT,CYB5R3 | c.-49+27578A>C (n.-49+27578A>C) c.733A>C (p.Ile245Leu) | gnomAD v4 |
| 22 | g.42693220C>A | CA10270228 | A4GALT,CYB5R3 | c.-49+27577G>T (n.-49+27577G>T) c.732G>T (p.Trp244Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693220C= | CA2406870182 | A4GALT,CYB5R3 | c.-49+27577G= (n.-49+27577G=) c.732G= (p.Trp244=) | |
| 22 | g.42693220C>G | CA411811479 | A4GALT,CYB5R3 | c.-49+27577G>C (n.-49+27577G>C) c.732G>C (p.Trp244Cys) | |
| 22 | g.42693220C>T | CA411811480 | A4GALT,CYB5R3 | c.-49+27577G>A (n.-49+27577G>A) c.732G>A (p.Trp244Ter) | |
| 22 | g.42693221dup | CA2573055029 | A4GALT,CYB5R3 | c.-49+27577dup (n.-49+27577dup) c.732dup (p.Ile245AspfsTer?) | dbSNP |
| 22 | g.42693221C>A | CA411811481 | A4GALT,CYB5R3 | c.-49+27576G>T (n.-49+27576G>T) c.731G>T (p.Trp244Leu) | |
| 22 | g.42693221C>G | CA411811482 | A4GALT,CYB5R3 | c.-49+27576G>C (n.-49+27576G>C) c.731G>C (p.Trp244Ser) | gnomAD v4 |
| 22 | g.42693221C>T | CA411811483 | A4GALT,CYB5R3 | c.-49+27576G>A (n.-49+27576G>A) c.731G>A (p.Trp244Ter) | |
| 22 | g.42693222A>C | CA411811484 | A4GALT,CYB5R3 | c.-49+27575T>G (n.-49+27575T>G) c.730T>G (p.Trp244Gly) | |
| 22 | g.42693222A>G | CA411811485 | A4GALT,CYB5R3 | c.-49+27575T>C (n.-49+27575T>C) c.730T>C (p.Trp244Arg) | |
| 22 | g.42693222A>T | CA411811486 | A4GALT,CYB5R3 | c.-49+27575T>A (n.-49+27575T>A) c.730T>A (p.Trp244Arg) | |
| 22 | g.42693223G>A | CA515070832 | A4GALT,CYB5R3 | c.-49+27574C>T (n.-49+27574C>T) c.729C>T (p.Gly243=) | |
| 22 | g.42693223G>C | CA515070834 | A4GALT,CYB5R3 | c.-49+27574C>G (n.-49+27574C>G) c.729C>G (p.Gly243=) | |
| 22 | g.42693223G>T | CA515070836 | A4GALT,CYB5R3 | c.-49+27574C>A (n.-49+27574C>A) c.729C>A (p.Gly243=) | gnomAD v4 |
| 22 | g.42693224C>A | CA411811489 | A4GALT,CYB5R3 | c.-49+27573G>T (n.-49+27573G>T) c.728G>T (p.Gly243Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693224C= | CA2406870183 | A4GALT,CYB5R3 | c.-49+27573G= (n.-49+27573G=) c.728G= (p.Gly243=) | |
| 22 | g.42693224C>G | CA411811488 | A4GALT,CYB5R3 | c.-49+27573G>C (n.-49+27573G>C) c.728G>C (p.Gly243Ala) | |
| 22 | g.42693224C>T | CA411811487 | A4GALT,CYB5R3 | c.-49+27573G>A (n.-49+27573G>A) c.728G>A (p.Gly243Asp) | gnomAD v4 |