Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.171554657_171554665delinsAATTCTACC | CA1307408205 | CYBRD1 | c.691_699delinsAATTCTACC (p.Asn231=) c.*8_*16delinsAATTCTACC (n.*8_*16delinsAATTCTACC) c.517_525delinsAATTCTACC (p.Asn173=) | |
2 | g.171554663_171554670del | CA760701164 | CYBRD1 | c.697_704del (p.Thr233SerfsTer7) c.*14_*21del (n.*14_*21del) c.523_530del (p.Thr175SerfsTer7) | dbSNP |
2 | g.171554663del | CA2753164388 | CYBRD1 | c.697del (p.Thr233ProfsTer?) c.*14del (n.*14del) c.523del (p.Thr175ProfsTer?) | |
2 | g.171554663A>C | CA349282195 | CYBRD1 | c.697A>C (p.Thr233Pro) c.*14A>C (n.*14A>C) c.523A>C (p.Thr175Pro) | |
2 | g.171554663A>G | CA349282197 | CYBRD1 | c.697A>G (p.Thr233Ala) c.*14A>G (n.*14A>G) c.523A>G (p.Thr175Ala) | |
2 | g.171554663A>T | CA349282198 | CYBRD1 | c.697A>T (p.Thr233Ser) c.*14A>T (n.*14A>T) c.523A>T (p.Thr175Ser) | |
2 | g.171554664C>A | CA349282201 | CYBRD1 | c.698C>A (p.Thr233Asn) c.*15C>A (n.*15C>A) c.524C>A (p.Thr175Asn) | gnomAD v4 |
2 | g.171554664C>G | CA349282203 | CYBRD1 | c.698C>G (p.Thr233Ser) c.*15C>G (n.*15C>G) c.524C>G (p.Thr175Ser) | gnomAD v4 |
2 | g.171554664C>T | CA349282204 | CYBRD1 | c.698C>T (p.Thr233Ile) c.*15C>T (n.*15C>T) c.524C>T (p.Thr175Ile) | gnomAD v4 |
2 | g.171554664_171554670delinsCCATTCT | CA1307408206 | CYBRD1 | c.698_704delinsCCATTCT (p.Thr233=) c.*15_*21delinsCCATTCT (n.*15_*21delinsCCATTCT) c.524_530delinsCCATTCT (p.Thr175=) | |
2 | g.171554665C>A | CA429777030 | CYBRD1 | c.699C>A (p.Thr233=) c.*16C>A (n.*16C>A) c.525C>A (p.Thr175=) | |
2 | g.171554665C>G | CA429777034 | CYBRD1 | c.699C>G (p.Thr233=) c.*16C>G (n.*16C>G) c.525C>G (p.Thr175=) | |
2 | g.171554665C>T | CA429777032 | CYBRD1 | c.699C>T (p.Thr233=) c.*16C>T (n.*16C>T) c.525C>T (p.Thr175=) | |
2 | g.171554665_171554670del | CA760701175 | CYBRD1 | c.699_704del (p.Ile234_Leu235del) c.*16_*21del (n.*16_*21del) c.525_530del (p.Ile176_Leu177del) | dbSNP |
2 | g.171554666A= | CA1307408207 | CYBRD1 | c.700A= (p.Ile234=) c.*17A= (n.*17A=) c.526A= (p.Ile176=) | |
2 | g.171554666A>C | CA349282206 | CYBRD1 | c.700A>C (p.Ile234Leu) c.*17A>C (n.*17A>C) c.526A>C (p.Ile176Leu) | dbSNP |
2 | g.171554666A>G | CA349282208 | CYBRD1 | c.700A>G (p.Ile234Val) c.*17A>G (n.*17A>G) c.526A>G (p.Ile176Val) | |
2 | g.171554666A>T | CA349282210 | CYBRD1 | c.700A>T (p.Ile234Phe) c.*17A>T (n.*17A>T) c.526A>T (p.Ile176Phe) | |
2 | g.171554667T>A | CA349282212 | CYBRD1 | c.701T>A (p.Ile234Asn) c.*18T>A (n.*18T>A) c.527T>A (p.Ile176Asn) | |
2 | g.171554667T>C | CA349282214 | CYBRD1 | c.701T>C (p.Ile234Thr) c.*18T>C (n.*18T>C) c.527T>C (p.Ile176Thr) | |
2 | g.171554667T>G | CA349282215 | CYBRD1 | c.701T>G (p.Ile234Ser) c.*18T>G (n.*18T>G) c.527T>G (p.Ile176Ser) | |
2 | g.171554668T>A | CA429777040 | CYBRD1 | c.702T>A (p.Ile234=) c.*19T>A (n.*19T>A) c.528T>A (p.Ile176=) | |
2 | g.171554668T>C | CA429777041 | CYBRD1 | c.702T>C (p.Ile234=) c.*19T>C (n.*19T>C) c.528T>C (p.Ile176=) | |
2 | g.171554668T>G | CA349282217 | CYBRD1 | c.702T>G (p.Ile234Met) c.*19T>G (n.*19T>G) c.528T>G (p.Ile176Met) | |
2 | g.171554669C>A | CA349282219 | CYBRD1 | c.703C>A (p.Leu235Ile) c.*20C>A (n.*20C>A) c.529C>A (p.Leu177Ile) | |
2 | g.171554669C>G | CA349282221 | CYBRD1 | c.703C>G (p.Leu235Val) c.*20C>G (n.*20C>G) c.529C>G (p.Leu177Val) | |
2 | g.171554669C>T | CA349282223 | CYBRD1 | c.703C>T (p.Leu235Phe) c.*20C>T (n.*20C>T) c.529C>T (p.Leu177Phe) | |
2 | g.171554670T>A | CA349282225 | CYBRD1 | c.704T>A (p.Leu235His) c.*21T>A (n.*21T>A) c.530T>A (p.Leu177His) | |
2 | g.171554670T>C | CA349282227 | CYBRD1 | c.704T>C (p.Leu235Pro) c.*21T>C (n.*21T>C) c.530T>C (p.Leu177Pro) | |
2 | g.171554670T>G | CA349282229 | CYBRD1 | c.704T>G (p.Leu235Arg) c.*21T>G (n.*21T>G) c.530T>G (p.Leu177Arg) | |
2 | g.171554671T>A | CA429777048 | CYBRD1 | c.705T>A (p.Leu235=) c.*22T>A (n.*22T>A) c.531T>A (p.Leu177=) | |
2 | g.171554671T>C | CA429777050 | CYBRD1 | c.705T>C (p.Leu235=) c.*22T>C (n.*22T>C) c.531T>C (p.Leu177=) | |
2 | g.171554671T>G | CA429777051 | CYBRD1 | c.705T>G (p.Leu235=) c.*22T>G (n.*22T>G) c.531T>G (p.Leu177=) | gnomAD v4 |
2 | g.171554672C>A | CA349282231 | CYBRD1 | c.706C>A (p.His236Asn) c.*23C>A (n.*23C>A) c.532C>A (p.His178Asn) | |
2 | g.171554672C= | CA1307408208 | CYBRD1 | c.706C= (p.His236=) c.*23C= (n.*23C=) c.532C= (p.His178=) | |
2 | g.171554672C>G | CA349282232 | CYBRD1 | c.706C>G (p.His236Asp) c.*23C>G (n.*23C>G) c.532C>G (p.His178Asp) | |
2 | g.171554672C>T | CA1965384 | CYBRD1 | c.706C>T (p.His236Tyr) c.*23C>T (n.*23C>T) c.532C>T (p.His178Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.171554673A= | CA1307408209 | CYBRD1 | c.707A= (p.His236=) c.*24A= (n.*24A=) c.533A= (p.His178=) | |
2 | g.171554673A>C | CA349282236 | CYBRD1 | c.707A>C (p.His236Pro) c.*24A>C (n.*24A>C) c.533A>C (p.His178Pro) | |
2 | g.171554673A>G | CA349282237 | CYBRD1 | c.707A>G (p.His236Arg) c.*24A>G (n.*24A>G) c.533A>G (p.His178Arg) | |
2 | g.171554673A>T | CA1965385 | CYBRD1 | c.707A>T (p.His236Leu) c.*24A>T (n.*24A>T) c.533A>T (p.His178Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.171554674T>A | CA349282240 | CYBRD1 | c.708T>A (p.His236Gln) c.*25T>A (n.*25T>A) c.534T>A (p.His178Gln) | |
2 | g.171554674T>C | CA429777057 | CYBRD1 | c.708T>C (p.His236=) c.*25T>C (n.*25T>C) c.534T>C (p.His178=) | |
2 | g.171554674T>G | CA349282242 | CYBRD1 | c.708T>G (p.His236Gln) c.*25T>G (n.*25T>G) c.534T>G (p.His178Gln) | |
2 | g.171554675C>A | CA349282244 | CYBRD1 | c.709C>A (p.Pro237Thr) c.*26C>A (n.*26C>A) c.535C>A (p.Pro179Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.171554675C= | CA1307408210 | CYBRD1 | c.709C= (p.Pro237=) c.*26C= (n.*26C=) c.535C= (p.Pro179=) | |
2 | g.171554675C>G | CA349282247 | CYBRD1 | c.709C>G (p.Pro237Ala) c.*26C>G (n.*26C>G) c.535C>G (p.Pro179Ala) | |
2 | g.171554675C>T | CA349282246 | CYBRD1 | c.709C>T (p.Pro237Ser) c.*26C>T (n.*26C>T) c.535C>T (p.Pro179Ser) | |
2 | g.171554676C>A | CA349282249 | CYBRD1 | c.710C>A (p.Pro237Gln) c.*27C>A (n.*27C>A) c.536C>A (p.Pro179Gln) | |
2 | g.171554676C>G | CA349282251 | CYBRD1 | c.710C>G (p.Pro237Arg) c.*27C>G (n.*27C>G) c.536C>G (p.Pro179Arg) |