Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149570000T>A | CA348868744 | MMADHC | c.865A>T (p.Ile289Phe) c.967A>T (p.Ile323Phe) | |
2 | g.149570000T>C | CA348868746 | MMADHC | c.865A>G (p.Ile289Val) c.967A>G (p.Ile323Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570000T>G | CA348868748 | MMADHC | c.865A>C (p.Ile289Leu) c.967A>C (p.Ile323Leu) | |
2 | g.149570000T= | CA1297264271 | MMADHC | c.865A= (p.Ile289=) c.967A= (p.Ile323=) | |
2 | g.149570001A>C | CA348868750 | MMADHC | c.864T>G (p.His288Gln) c.966T>G (p.His322Gln) | |
2 | g.149570001A>G | CA429405860 | MMADHC | c.864T>C (p.His288=) c.966T>C (p.His322=) | ClinVar |
2 | g.149570001A>T | CA348868751 | MMADHC | c.864T>A (p.His288Gln) c.966T>A (p.His322Gln) | |
2 | g.149570002del | CA2661422178 | MMADHC | c.863del (p.His288LeufsTer3) c.965del (p.His322LeufsTer3) | gnomAD v4 |
2 | g.149570002T>A | CA348868753 | MMADHC | c.863A>T (p.His288Leu) c.965A>T (p.His322Leu) | |
2 | g.149570002T>C | CA348868754 | MMADHC | c.863A>G (p.His288Arg) c.965A>G (p.His322Arg) | |
2 | g.149570002T>G | CA348868757 | MMADHC | c.863A>C (p.His288Pro) c.965A>C (p.His322Pro) | |
2 | g.149570003G>A | CA348868758 | MMADHC | c.862C>T (p.His288Tyr) c.964C>T (p.His322Tyr) | |
2 | g.149570003G>C | CA1902246 | MMADHC | c.862C>G (p.His288Asp) c.964C>G (p.His322Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570003G= | CA1297264272 | MMADHC | c.862C= (p.His288=) c.964C= (p.His322=) | |
2 | g.149570003G>T | CA348868761 | MMADHC | c.862C>A (p.His288Asn) c.964C>A (p.His322Asn) | |
2 | g.149570004G>A | CA429405861 | MMADHC | c.861C>T (p.Ser287=) c.963C>T (p.Ser321=) | gnomAD v4 |
2 | g.149570004G>C | CA348868765 | MMADHC | c.861C>G (p.Ser287Arg) c.963C>G (p.Ser321Arg) | |
2 | g.149570004G>T | CA348868768 | MMADHC | c.861C>A (p.Ser287Arg) c.963C>A (p.Ser321Arg) | |
2 | g.149570005C>A | CA1902247 | MMADHC | c.860G>T (p.Ser287Ile) c.962G>T (p.Ser321Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570005C= | CA1297264273 | MMADHC | c.860G= (p.Ser287=) c.962G= (p.Ser321=) | |
2 | g.149570005C>G | CA348868770 | MMADHC | c.860G>C (p.Ser287Thr) c.962G>C (p.Ser321Thr) | |
2 | g.149570005C>T | CA348868773 | MMADHC | c.860G>A (p.Ser287Asn) c.962G>A (p.Ser321Asn) | dbSNP |
2 | g.149570006T>A | CA348868775 | MMADHC | c.859A>T (p.Ser287Cys) c.961A>T (p.Ser321Cys) | |
2 | g.149570006T>C | CA348868776 | MMADHC | c.859A>G (p.Ser287Gly) c.961A>G (p.Ser321Gly) | |
2 | g.149570006T>G | CA348868777 | MMADHC | c.859A>C (p.Ser287Arg) c.961A>C (p.Ser321Arg) | |
2 | g.149570007G>A | CA429405862 | MMADHC | c.858C>T (p.Asp286=) c.960C>T (p.Asp320=) | |
2 | g.149570007G>C | CA348868778 | MMADHC | c.858C>G (p.Asp286Glu) c.960C>G (p.Asp320Glu) | |
2 | g.149570007G>T | CA348868779 | MMADHC | c.858C>A (p.Asp286Glu) c.960C>A (p.Asp320Glu) | |
2 | g.149570008T>A | CA348868782 | MMADHC | c.857A>T (p.Asp286Val) c.959A>T (p.Asp320Val) | |
2 | g.149570008T>C | CA348868783 | MMADHC | c.857A>G (p.Asp286Gly) c.959A>G (p.Asp320Gly) | gnomAD v4 |
2 | g.149570008T>G | CA348868785 | MMADHC | c.857A>C (p.Asp286Ala) c.959A>C (p.Asp320Ala) | ClinVar dbSNP |
2 | g.149570008T= | CA1297264274 | MMADHC | c.857A= (p.Asp286=) c.959A= (p.Asp320=) | |
2 | g.149570009C>A | CA348868788 | MMADHC | c.856G>T (p.Asp286Tyr) c.958G>T (p.Asp320Tyr) | |
2 | g.149570009C= | CA1297264275 | MMADHC | c.856G= (p.Asp286=) c.958G= (p.Asp320=) | |
2 | g.149570009C>G | CA348868790 | MMADHC | c.856G>C (p.Asp286His) c.958G>C (p.Asp320His) | |
2 | g.149570009C>T | CA348868792 | MMADHC | c.856G>A (p.Asp286Asn) c.958G>A (p.Asp320Asn) | gnomAD v4 |
2 | g.149570010T>A | CA1902248 | MMADHC | c.855A>T (p.Pro285=) c.957A>T (p.Pro319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570010T>C | CA429405863 | MMADHC | c.855A>G (p.Pro285=) c.957A>G (p.Pro319=) | |
2 | g.149570010T>G | CA429405864 | MMADHC | c.855A>C (p.Pro285=) c.957A>C (p.Pro319=) | |
2 | g.149570010T= | CA1297264276 | MMADHC | c.855A= (p.Pro285=) c.957A= (p.Pro319=) | |
2 | g.149570012_149570014dup | CA348868794 | MMADHC | c.853_855dup (p.Pro285_Asp286insPro) c.955_957dup (p.Pro319_Asp320insPro) | dbSNP gnomAD v4 |
2 | g.149570011G>A | CA348868800 | MMADHC | c.854C>T (p.Pro285Leu) c.956C>T (p.Pro319Leu) | gnomAD v4 |
2 | g.149570011G>C | CA348868807 | MMADHC | c.854C>G (p.Pro285Arg) c.956C>G (p.Pro319Arg) | |
2 | g.149570011G>T | CA348868798 | MMADHC | c.854C>A (p.Pro285Gln) c.956C>A (p.Pro319Gln) | |
2 | g.149570012G>A | CA348868814 | MMADHC | c.853C>T (p.Pro285Ser) c.955C>T (p.Pro319Ser) | gnomAD v4 |
2 | g.149570012G>C | CA348868809 | MMADHC | c.853C>G (p.Pro285Ala) c.955C>G (p.Pro319Ala) | |
2 | g.149570012G= | CA1297264277 | MMADHC | c.853C= (p.Pro285=) c.955C= (p.Pro319=) | |
2 | g.149570012G>T | CA348868812 | MMADHC | c.853C>A (p.Pro285Thr) c.955C>A (p.Pro319Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570013T>A | CA429405867 | MMADHC | c.852A>T (p.Thr284=) c.954A>T (p.Thr318=) | |
2 | g.149570013T>C | CA429405866 | MMADHC | c.852A>G (p.Thr284=) c.954A>G (p.Thr318=) |