Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508838T>A | CA340133125 | MMACHC | c.472T>A (p.Phe158Ile) c.301T>A (p.Phe101Ile) c.277T>A (p.Phe93Ile) | |
1 | g.45508838T>C | CA312734 | MMACHC | c.472T>C (p.Phe158Leu) c.301T>C (p.Phe101Leu) c.277T>C (p.Phe93Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508838T>G | CA340133128 | MMACHC | c.472T>G (p.Phe158Val) c.301T>G (p.Phe101Val) c.277T>G (p.Phe93Val) | |
1 | g.45508838T= | CA1143474430 | MMACHC | c.472T= (p.Phe158=) c.301T= (p.Phe101=) c.277T= (p.Phe93=) | |
1 | g.45508839T>A | CA340133130 | MMACHC | c.473T>A (p.Phe158Tyr) c.302T>A (p.Phe101Tyr) c.278T>A (p.Phe93Tyr) | |
1 | g.45508839T>C | CA340133132 | MMACHC | c.473T>C (p.Phe158Ser) c.302T>C (p.Phe101Ser) c.278T>C (p.Phe93Ser) | ClinVar dbSNP |
1 | g.45508839T>G | CA340133134 | MMACHC | c.473T>G (p.Phe158Cys) c.302T>G (p.Phe101Cys) c.278T>G (p.Phe93Cys) | |
1 | g.45508839T= | CA2473783665 | MMACHC | c.473T= (p.Phe158=) c.302T= (p.Phe101=) c.278T= (p.Phe93=) | |
1 | g.45508840T>A | CA340133136 | MMACHC | c.474T>A (p.Phe158Leu) c.303T>A (p.Phe101Leu) c.279T>A (p.Phe93Leu) | |
1 | g.45508840T>C | CA417881273 | MMACHC | c.474T>C (p.Phe158=) c.303T>C (p.Phe101=) c.279T>C (p.Phe93=) | |
1 | g.45508840T>G | CA340133138 | MMACHC | c.474T>G (p.Phe158Leu) c.303T>G (p.Phe101Leu) c.279T>G (p.Phe93Leu) | |
1 | g.45508841G>A | CA340133140 | MMACHC | c.475G>A (p.Ala159Thr) c.304G>A (p.Ala102Thr) c.280G>A (p.Ala94Thr) | |
1 | g.45508841G>C | CA340133141 | MMACHC | c.475G>C (p.Ala159Pro) c.304G>C (p.Ala102Pro) c.280G>C (p.Ala94Pro) | |
1 | g.45508841G>T | CA340133142 | MMACHC | c.475G>T (p.Ala159Ser) c.304G>T (p.Ala102Ser) c.280G>T (p.Ala94Ser) | |
1 | g.45508842C>A | CA340133150 | MMACHC | c.476C>A (p.Ala159Asp) c.305C>A (p.Ala102Asp) c.281C>A (p.Ala94Asp) | |
1 | g.45508842C>G | CA340133148 | MMACHC | c.476C>G (p.Ala159Gly) c.305C>G (p.Ala102Gly) c.281C>G (p.Ala94Gly) | |
1 | g.45508842C>T | CA340133146 | MMACHC | c.476C>T (p.Ala159Val) c.305C>T (p.Ala102Val) c.281C>T (p.Ala94Val) | gnomAD v4 |
1 | g.45508844_45508847del | CA2573051585 | MMACHC | c.478_481del (p.Ile160GlufsTer3) c.307_310del (p.Ile103GlufsTer3) c.283_286del (p.Ile95GlufsTer3) | ClinVar dbSNP gnomAD v4 |
1 | g.45508843C>A | CA417881279 | MMACHC | c.477C>A (p.Ala159=) c.306C>A (p.Ala102=) c.282C>A (p.Ala94=) | |
1 | g.45508843C= | CA1148481504 | MMACHC | c.477C= (p.Ala159=) c.306C= (p.Ala102=) c.282C= (p.Ala94=) | |
1 | g.45508843C>G | CA417881278 | MMACHC | c.477C>G (p.Ala159=) c.306C>G (p.Ala102=) c.282C>G (p.Ala94=) | |
1 | g.45508843C>T | CA827771 | MMACHC | c.477C>T (p.Ala159=) c.306C>T (p.Ala102=) c.282C>T (p.Ala94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508843_45508844insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC | CA2580062897 | MMACHC | c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160HisfsTer22) c.306_307insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile103HisfsTer22) c.282_283insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile95HisfsTer22) | ClinVar |
1 | g.45508844A= | CA2473783666 | MMACHC | c.478A= (p.Ile160=) c.307A= (p.Ile103=) c.283A= (p.Ile95=) | |
1 | g.45508844A>C | CA340133155 | MMACHC | c.478A>C (p.Ile160Leu) c.307A>C (p.Ile103Leu) c.283A>C (p.Ile95Leu) | |
1 | g.45508844A>G | CA827772 | MMACHC | c.478A>G (p.Ile160Val) c.307A>G (p.Ile103Val) c.283A>G (p.Ile95Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508844A>T | CA340133153 | MMACHC | c.478A>T (p.Ile160Phe) c.307A>T (p.Ile103Phe) c.283A>T (p.Ile95Phe) | |
1 | g.45508845T>A | CA340133156 | MMACHC | c.479T>A (p.Ile160Asn) c.308T>A (p.Ile103Asn) c.284T>A (p.Ile95Asn) | |
1 | g.45508845T>C | CA340133159 | MMACHC | c.479T>C (p.Ile160Thr) c.308T>C (p.Ile103Thr) c.284T>C (p.Ile95Thr) | dbSNP gnomAD v4 |
1 | g.45508845T>G | CA340133160 | MMACHC | c.479T>G (p.Ile160Ser) c.308T>G (p.Ile103Ser) c.284T>G (p.Ile95Ser) | |
1 | g.45508845T= | CA2473783667 | MMACHC | c.479T= (p.Ile160=) c.308T= (p.Ile103=) c.284T= (p.Ile95=) | |
1 | g.45508846C>A | CA827773 | MMACHC | c.480C>A (p.Ile160=) c.309C>A (p.Ile103=) c.285C>A (p.Ile95=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508846C= | CA2473783668 | MMACHC | c.480C= (p.Ile160=) c.309C= (p.Ile103=) c.285C= (p.Ile95=) | |
1 | g.45508846C>G | CA340133163 | MMACHC | c.480C>G (p.Ile160Met) c.309C>G (p.Ile103Met) c.285C>G (p.Ile95Met) | |
1 | g.45508846C>T | CA417881280 | MMACHC | c.480C>T (p.Ile160=) c.309C>T (p.Ile103=) c.285C>T (p.Ile95=) | |
1 | g.45508847C>A | CA827774 | MMACHC | c.481C>A (p.Arg161=) c.310C>A (p.Arg104=) c.286C>A (p.Arg96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508847C= | CA1143739434 | MMACHC | c.481C= (p.Arg161=) c.310C= (p.Arg104=) c.286C= (p.Arg96=) | |
1 | g.45508847C>G | CA340133167 | MMACHC | c.481C>G (p.Arg161Gly) c.310C>G (p.Arg104Gly) c.286C>G (p.Arg96Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508847C>T | CA223189 | MMACHC | c.481C>T (p.Arg161Ter) c.310C>T (p.Arg104Ter) c.286C>T (p.Arg96Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508848G>A | CA223191 | MMACHC | c.482G>A (p.Arg161Gln) c.311G>A (p.Arg104Gln) c.287G>A (p.Arg96Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.45508848G>C | CA340133169 | MMACHC | c.482G>C (p.Arg161Pro) c.311G>C (p.Arg104Pro) c.287G>C (p.Arg96Pro) | |
1 | g.45508848G= | CA1141580771 | MMACHC | c.482G= (p.Arg161=) c.311G= (p.Arg104=) c.287G= (p.Arg96=) | |
1 | g.45508848G>T | CA340133171 | MMACHC | c.482G>T (p.Arg161Leu) c.311G>T (p.Arg104Leu) c.287G>T (p.Arg96Leu) | ClinVar |
1 | g.45508849A>C | CA417881286 | MMACHC | c.483A>C (p.Arg161=) c.312A>C (p.Arg104=) c.288A>C (p.Arg96=) | |
1 | g.45508849A>G | CA417881288 | MMACHC | c.483A>G (p.Arg161=) c.312A>G (p.Arg104=) c.288A>G (p.Arg96=) | |
1 | g.45508849A>T | CA417881287 | MMACHC | c.483A>T (p.Arg161=) c.312A>T (p.Arg104=) c.288A>T (p.Arg96=) | |
1 | g.45508850G>A | CA340133176 | MMACHC | c.484G>A (p.Gly162Arg) c.313G>A (p.Gly105Arg) c.289G>A (p.Gly97Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508850G>C | CA340133172 | MMACHC | c.484G>C (p.Gly162Arg) c.313G>C (p.Gly105Arg) c.289G>C (p.Gly97Arg) | gnomAD v4 |
1 | g.45508850G= | CA2473783669 | MMACHC | c.484G= (p.Gly162=) c.313G= (p.Gly105=) c.289G= (p.Gly97=) | |
1 | g.45508850G>T | CA340133174 | MMACHC | c.484G>T (p.Gly162Trp) c.313G>T (p.Gly105Trp) c.289G>T (p.Gly97Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |