Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) |