Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42693412G>A | CA515072686 | A4GALT,CYB5R3 | c.-49+27385C>T (n.-49+27385C>T) c.540C>T (p.Ile180=) | gnomAD v4 COSMIC |
22 | g.42693412G>C | CA411812140 | A4GALT,CYB5R3 | c.-49+27385C>G (n.-49+27385C>G) c.540C>G (p.Ile180Met) | gnomAD v4 |
22 | g.42693412G>T | CA515072689 | A4GALT,CYB5R3 | c.-49+27385C>A (n.-49+27385C>A) c.540C>A (p.Ile180=) | |
22 | g.42693413A>C | CA411812142 | A4GALT,CYB5R3 | c.-49+27384T>G (n.-49+27384T>G) c.539T>G (p.Ile180Ser) | |
22 | g.42693413A>G | CA411812141 | A4GALT,CYB5R3 | c.-49+27384T>C (n.-49+27384T>C) c.539T>C (p.Ile180Thr) | |
22 | g.42693413A>T | CA411812143 | A4GALT,CYB5R3 | c.-49+27384T>A (n.-49+27384T>A) c.539T>A (p.Ile180Asn) | |
22 | g.42693414T>A | CA411812144 | A4GALT,CYB5R3 | c.-49+27383A>T (n.-49+27383A>T) c.538A>T (p.Ile180Phe) | |
22 | g.42693414T>C | CA411812145 | A4GALT,CYB5R3 | c.-49+27383A>G (n.-49+27383A>G) c.538A>G (p.Ile180Val) | gnomAD v4 |
22 | g.42693414T>G | CA411812146 | A4GALT,CYB5R3 | c.-49+27383A>C (n.-49+27383A>C) c.538A>C (p.Ile180Leu) | |
22 | g.42693415C>A | CA411812147 | A4GALT,CYB5R3 | c.-49+27382G>T (n.-49+27382G>T) c.537G>T (p.Arg179Ser) | |
22 | g.42693415C>G | CA411812148 | A4GALT,CYB5R3 | c.-49+27382G>C (n.-49+27382G>C) c.537G>C (p.Arg179Ser) | |
22 | g.42693415C>T | CA515072698 | A4GALT,CYB5R3 | c.-49+27382G>A (n.-49+27382G>A) c.537G>A (p.Arg179=) | gnomAD v4 |
22 | g.42693416C>A | CA411812149 | A4GALT,CYB5R3 | c.-49+27381G>T (n.-49+27381G>T) c.536G>T (p.Arg179Met) | |
22 | g.42693416C= | CA2406870283 | A4GALT,CYB5R3 | c.-49+27381G= (n.-49+27381G=) c.536G= (p.Arg179=) | |
22 | g.42693416C>G | CA411812150 | A4GALT,CYB5R3 | c.-49+27381G>C (n.-49+27381G>C) c.536G>C (p.Arg179Thr) | dbSNP |
22 | g.42693416C>T | CA411812151 | A4GALT,CYB5R3 | c.-49+27381G>A (n.-49+27381G>A) c.536G>A (p.Arg179Lys) | |
22 | g.42693417T>A | CA411812152 | A4GALT,CYB5R3 | c.-49+27380A>T (n.-49+27380A>T) c.535A>T (p.Arg179Trp) | |
22 | g.42693417T>C | CA10270274 | A4GALT,CYB5R3 | c.-49+27380A>G (n.-49+27380A>G) c.535A>G (p.Arg179Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42693417T>G | CA515072707 | A4GALT,CYB5R3 | c.-49+27380A>C (n.-49+27380A>C) c.535A>C (p.Arg179=) | |
22 | g.42693417T= | CA2406870284 | A4GALT,CYB5R3 | c.-49+27380A= (n.-49+27380A=) c.535A= (p.Arg179=) | |
22 | g.42693418G>A | CA515072709 | A4GALT,CYB5R3 | c.-49+27379C>T (n.-49+27379C>T) c.534C>T (p.Ser178=) | |
22 | g.42693418G>C | CA515072711 | A4GALT,CYB5R3 | c.-49+27379C>G (n.-49+27379C>G) c.534C>G (p.Ser178=) | |
22 | g.42693418G>T | CA515072712 | A4GALT,CYB5R3 | c.-49+27379C>A (n.-49+27379C>A) c.534C>A (p.Ser178=) | |
22 | g.42693419G>A | CA411812153 | A4GALT,CYB5R3 | c.-49+27378C>T (n.-49+27378C>T) c.533C>T (p.Ser178Phe) | |
22 | g.42693419G>C | CA411812154 | A4GALT,CYB5R3 | c.-49+27378C>G (n.-49+27378C>G) c.533C>G (p.Ser178Cys) | |
22 | g.42693419G>T | CA411812155 | A4GALT,CYB5R3 | c.-49+27378C>A (n.-49+27378C>A) c.533C>A (p.Ser178Tyr) | |
22 | g.42693420A= | CA2406870285 | A4GALT,CYB5R3 | c.-49+27377T= (n.-49+27377T=) c.532T= (p.Ser178=) | |
22 | g.42693420A>C | CA411812158 | A4GALT,CYB5R3 | c.-49+27377T>G (n.-49+27377T>G) c.532T>G (p.Ser178Ala) | |
22 | g.42693420A>G | CA411812156 | A4GALT,CYB5R3 | c.-49+27377T>C (n.-49+27377T>C) c.532T>C (p.Ser178Pro) | |
22 | g.42693420A>T | CA411812157 | A4GALT,CYB5R3 | c.-49+27377T>A (n.-49+27377T>A) c.532T>A (p.Ser178Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693421G>A | CA324732321 | A4GALT,CYB5R3 | c.-49+27376C>T (n.-49+27376C>T) c.531C>T (p.Ala177=) | dbSNP |
22 | g.42693421G>C | CA515072723 | A4GALT,CYB5R3 | c.-49+27376C>G (n.-49+27376C>G) c.531C>G (p.Ala177=) | |
22 | g.42693421G= | CA2406870286 | A4GALT,CYB5R3 | c.-49+27376C= (n.-49+27376C=) c.531C= (p.Ala177=) | |
22 | g.42693421G>T | CA515072720 | A4GALT,CYB5R3 | c.-49+27376C>A (n.-49+27376C>A) c.531C>A (p.Ala177=) | |
22 | g.42693422G>A | CA411812159 | A4GALT,CYB5R3 | c.-49+27375C>T (n.-49+27375C>T) c.530C>T (p.Ala177Val) | |
22 | g.42693422G>C | CA411812160 | A4GALT,CYB5R3 | c.-49+27375C>G (n.-49+27375C>G) c.530C>G (p.Ala177Gly) | |
22 | g.42693422G= | CA2406870287 | A4GALT,CYB5R3 | c.-49+27375C= (n.-49+27375C=) c.530C= (p.Ala177=) | |
22 | g.42693422G>T | CA10270275 | A4GALT,CYB5R3 | c.-49+27375C>A (n.-49+27375C>A) c.530C>A (p.Ala177Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693423C>A | CA411812161 | A4GALT,CYB5R3 | c.-49+27374G>T (n.-49+27374G>T) c.529G>T (p.Ala177Ser) | |
22 | g.42693423C= | CA2406870288 | A4GALT,CYB5R3 | c.-49+27374G= (n.-49+27374G=) c.529G= (p.Ala177=) | |
22 | g.42693423C>G | CA411812162 | A4GALT,CYB5R3 | c.-49+27374G>C (n.-49+27374G>C) c.529G>C (p.Ala177Pro) | |
22 | g.42693423C>T | CA411812163 | A4GALT,CYB5R3 | c.-49+27374G>A (n.-49+27374G>A) c.529G>A (p.Ala177Thr) | dbSNP gnomAD v4 |
22 | g.42693424G>A | CA515072737 | A4GALT,CYB5R3 | c.-49+27373C>T (n.-49+27373C>T) c.528C>T (p.Asp176=) | dbSNP gnomAD v4 COSMIC |
22 | g.42693424G>C | CA411812164 | A4GALT,CYB5R3 | c.-49+27373C>G (n.-49+27373C>G) c.528C>G (p.Asp176Glu) | |
22 | g.42693424G= | CA2406870289 | A4GALT,CYB5R3 | c.-49+27373C= (n.-49+27373C=) c.528C= (p.Asp176=) | |
22 | g.42693424G>T | CA411812165 | A4GALT,CYB5R3 | c.-49+27373C>A (n.-49+27373C>A) c.528C>A (p.Asp176Glu) | gnomAD v4 |
22 | g.42693425T>A | CA411812166 | A4GALT,CYB5R3 | c.-49+27372A>T (n.-49+27372A>T) c.527A>T (p.Asp176Val) | |
22 | g.42693425T>C | CA411812167 | A4GALT,CYB5R3 | c.-49+27372A>G (n.-49+27372A>G) c.527A>G (p.Asp176Gly) | |
22 | g.42693425T>G | CA411812168 | A4GALT,CYB5R3 | c.-49+27372A>C (n.-49+27372A>C) c.527A>C (p.Asp176Ala) | |
22 | g.42693426C>A | CA411812169 | A4GALT,CYB5R3 | c.-49+27371G>T (n.-49+27371G>T) c.526G>T (p.Asp176Tyr) |