Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
22 | g.42693426C= | CA2406870290 | A4GALT,CYB5R3 | c.-49+27371G= (n.-49+27371G=) c.526G= (p.Asp176=) | |
22 | g.42693426C>G | CA411812170 | A4GALT,CYB5R3 | c.-49+27371G>C (n.-49+27371G>C) c.526G>C (p.Asp176His) | |
22 | g.42693426C>T | CA10270276 | A4GALT,CYB5R3 | c.-49+27371G>A (n.-49+27371G>A) c.526G>A (p.Asp176Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42693427G>A | CA10270277 | A4GALT,CYB5R3 | c.-49+27370C>T (n.-49+27370C>T) c.525C>T (p.Ser175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42693427G>C | CA515072755 | A4GALT,CYB5R3 | c.-49+27370C>G (n.-49+27370C>G) c.525C>G (p.Ser175=) | |
22 | g.42693427G= | CA2406870291 | A4GALT,CYB5R3 | c.-49+27370C= (n.-49+27370C=) c.525C= (p.Ser175=) | |
22 | g.42693427G>T | CA515072753 | A4GALT,CYB5R3 | c.-49+27370C>A (n.-49+27370C>A) c.525C>A (p.Ser175=) | |
22 | g.42693428G>A | CA411812171 | A4GALT,CYB5R3 | c.-49+27369C>T (n.-49+27369C>T) c.524C>T (p.Ser175Phe) | COSMIC |
22 | g.42693428G>C | CA411812172 | A4GALT,CYB5R3 | c.-49+27369C>G (n.-49+27369C>G) c.524C>G (p.Ser175Cys) | gnomAD v4 |
22 | g.42693428G>T | CA411812173 | A4GALT,CYB5R3 | c.-49+27369C>A (n.-49+27369C>A) c.524C>A (p.Ser175Tyr) | |
22 | g.42693429A>C | CA411812174 | A4GALT,CYB5R3 | c.-49+27368T>G (n.-49+27368T>G) c.523T>G (p.Ser175Ala) | gnomAD v4 |
22 | g.42693429A>G | CA411812175 | A4GALT,CYB5R3 | c.-49+27368T>C (n.-49+27368T>C) c.523T>C (p.Ser175Pro) |