Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.149569993_149569995dup | CA1902245 | MMADHC | c.873_875dup (p.Lys292_Leu293insLys) c.975_977dup (p.Lys326_Leu327insLys) | dbSNP ExAC gnomAD v2 |
2 | g.149569994T>A | CA348868723 | MMADHC | c.871A>T (p.Lys291Ter) c.973A>T (p.Lys325Ter) | |
2 | g.149569994T>C | CA348868724 | MMADHC | c.871A>G (p.Lys291Glu) c.973A>G (p.Lys325Glu) | |
2 | g.149569994T>G | CA348868725 | MMADHC | c.871A>C (p.Lys291Gln) c.973A>C (p.Lys325Gln) | |
2 | g.149569995C>A | CA348868726 | MMADHC | c.870G>T (p.Met290Ile) c.972G>T (p.Met324Ile) | |
2 | g.149569995C>G | CA348868727 | MMADHC | c.870G>C (p.Met290Ile) c.972G>C (p.Met324Ile) | |
2 | g.149569995C>T | CA348868728 | MMADHC | c.870G>A (p.Met290Ile) c.972G>A (p.Met324Ile) | COSMIC |
2 | g.149569996A= | CA1297264270 | MMADHC | c.869T= (p.Met290=) c.971T= (p.Met324=) | |
2 | g.149569996A>C | CA348868729 | MMADHC | c.869T>G (p.Met290Arg) c.971T>G (p.Met324Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149569996A>G | CA348868731 | MMADHC | c.869T>C (p.Met290Thr) c.971T>C (p.Met324Thr) | |
2 | g.149569996A>T | CA348868730 | MMADHC | c.869T>A (p.Met290Lys) c.971T>A (p.Met324Lys) | dbSNP |
2 | g.149569997T>A | CA348868732 | MMADHC | c.868A>T (p.Met290Leu) c.970A>T (p.Met324Leu) | gnomAD v4 |
2 | g.149569997T>C | CA348868733 | MMADHC | c.868A>G (p.Met290Val) c.970A>G (p.Met324Val) | |
2 | g.149569997T>G | CA348868734 | MMADHC | c.868A>C (p.Met290Leu) c.970A>C (p.Met324Leu) | |
2 | g.149569998A>C | CA348868735 | MMADHC | c.867T>G (p.Ile289Met) c.969T>G (p.Ile323Met) | |
2 | g.149569998A>G | CA429405859 | MMADHC | c.867T>C (p.Ile289=) c.969T>C (p.Ile323=) | gnomAD v4 |
2 | g.149569998A>T | CA429405858 | MMADHC | c.867T>A (p.Ile289=) c.969T>A (p.Ile323=) | |
2 | g.149569999A>C | CA348868741 | MMADHC | c.866T>G (p.Ile289Ser) c.968T>G (p.Ile323Ser) | |
2 | g.149569999A>G | CA348868739 | MMADHC | c.866T>C (p.Ile289Thr) c.968T>C (p.Ile323Thr) | |
2 | g.149569999A>T | CA348868737 | MMADHC | c.866T>A (p.Ile289Asn) c.968T>A (p.Ile323Asn) | |
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=) | |
2 | g.149570013T>G | CA429405865 | MMADHC | c.852A>C (p.Thr284=) c.954A>C (p.Thr318=) | |
2 | g.149570014G>A | CA348868817 | MMADHC | c.851C>T (p.Thr284Ile) c.953C>T (p.Thr318Ile) | |
2 | g.149570014G>C | CA348868818 | MMADHC | c.851C>G (p.Thr284Arg) c.953C>G (p.Thr318Arg) | |
2 | g.149570014G>T | CA348868820 | MMADHC | c.851C>A (p.Thr284Lys) c.953C>A (p.Thr318Lys) | COSMIC |
2 | g.149570015T>A | CA348868826 | MMADHC | c.850A>T (p.Thr284Ser) c.952A>T (p.Thr318Ser) | gnomAD v4 |
2 | g.149570015T>C | CA348868825 | MMADHC | c.850A>G (p.Thr284Ala) c.952A>G (p.Thr318Ala) | |
2 | g.149570015T>G | CA348868822 | MMADHC | c.850A>C (p.Thr284Pro) c.952A>C (p.Thr318Pro) | |
2 | g.149570016del | CA2577116926 | MMADHC | c.850del (p.Thr284HisfsTer7) c.952del (p.Thr318HisfsTer7) | |
2 | g.149570016T>A | CA429405868 | MMADHC | c.849A>T (p.Ala283=) c.951A>T (p.Ala317=) | |
2 | g.149570016T>C | CA429405869 | MMADHC | c.849A>G (p.Ala283=) c.951A>G (p.Ala317=) | gnomAD v4 |
2 | g.149570016T>G | CA429405870 | MMADHC | c.849A>C (p.Ala283=) c.951A>C (p.Ala317=) | gnomAD v4 |
2 | g.149570017G>A | CA348868830 | MMADHC | c.848C>T (p.Ala283Val) c.950C>T (p.Ala317Val) | |
2 | g.149570017G>C | CA348868831 | MMADHC | c.848C>G (p.Ala283Gly) c.950C>G (p.Ala317Gly) | |
2 | g.149570017G>T | CA348868834 | MMADHC | c.848C>A (p.Ala283Glu) c.950C>A (p.Ala317Glu) | |
2 | g.149570018C>A | CA348868836 | MMADHC | c.847G>T (p.Ala283Ser) c.949G>T (p.Ala317Ser) | |
2 | g.149570018C>G | CA348868839 | MMADHC | c.847G>C (p.Ala283Pro) c.949G>C (p.Ala317Pro) | |
2 | g.149570018C>T | CA348868841 | MMADHC | c.847G>A (p.Ala283Thr) c.949G>A (p.Ala317Thr) | |
2 | g.149570019A= | CA1297264278 | MMADHC | c.846T= (p.Asn282=) c.948T= (p.Asn316=) | |
2 | g.149570019A>C | CA348868844 | MMADHC | c.846T>G (p.Asn282Lys) c.948T>G (p.Asn316Lys) | |
2 | g.149570019A>G | CA1902249 | MMADHC | c.846T>C (p.Asn282=) c.948T>C (p.Asn316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570019A>T | CA348868845 | MMADHC | c.846T>A (p.Asn282Lys) c.948T>A (p.Asn316Lys) | |
2 | g.149570020T>A | CA348868850 | MMADHC | c.845A>T (p.Asn282Ile) c.947A>T (p.Asn316Ile) | COSMIC |
2 | g.149570020T>C | CA1902250 | MMADHC | c.845A>G (p.Asn282Ser) c.947A>G (p.Asn316Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570020T>G | CA348868852 | MMADHC | c.845A>C (p.Asn282Thr) c.947A>C (p.Asn316Thr) | |
2 | g.149570020T= | CA1297264279 | MMADHC | c.845A= (p.Asn282=) c.947A= (p.Asn316=) | |
2 | g.149570021T>A | CA348868854 | MMADHC | c.844A>T (p.Asn282Tyr) c.946A>T (p.Asn316Tyr) | |
2 | g.149570021T>C | CA348868856 | MMADHC | c.844A>G (p.Asn282Asp) c.946A>G (p.Asn316Asp) | gnomAD v4 |
2 | g.149570021T>G | CA348868858 | MMADHC | c.844A>C (p.Asn282His) c.946A>C (p.Asn316His) | |
2 | g.149570022A>C | CA429405871 | MMADHC | c.843T>G (p.Thr281=) c.945T>G (p.Thr315=) | |
2 | g.149570022A>G | CA429405872 | MMADHC | c.843T>C (p.Thr281=) c.945T>C (p.Thr315=) | |
2 | g.149570022A>T | CA429405873 | MMADHC | c.843T>A (p.Thr281=) c.945T>A (p.Thr315=) | |
2 | g.149570023G>A | CA1902252 | MMADHC | c.842C>T (p.Thr281Ile) c.944C>T (p.Thr315Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570023G>C | CA1902251 | MMADHC | c.842C>G (p.Thr281Ser) c.944C>G (p.Thr315Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570023G= | CA1297264280 | MMADHC | c.842C= (p.Thr281=) c.944C= (p.Thr315=) | |
2 | g.149570023G>T | CA348868862 | MMADHC | c.842C>A (p.Thr281Asn) c.944C>A (p.Thr315Asn) | |
2 | g.149570024T>A | CA348868864 | MMADHC | c.841A>T (p.Thr281Ser) c.943A>T (p.Thr315Ser) | |
2 | g.149570024T>C | CA348868866 | MMADHC | c.841A>G (p.Thr281Ala) c.943A>G (p.Thr315Ala) | |
2 | g.149570024T>G | CA348868868 | MMADHC | c.841A>C (p.Thr281Pro) c.943A>C (p.Thr315Pro) | |
2 | g.149570025G>A | CA429405874 | MMADHC | c.840C>T (p.Phe280=) c.942C>T (p.Phe314=) | ClinVar dbSNP |
2 | g.149570025G>C | CA348868872 | MMADHC | c.840C>G (p.Phe280Leu) c.942C>G (p.Phe314Leu) | |
2 | g.149570025G>T | CA348868870 | MMADHC | c.840C>A (p.Phe280Leu) c.942C>A (p.Phe314Leu) | |
2 | g.149570026A>C | CA348868874 | MMADHC | c.839T>G (p.Phe280Cys) c.941T>G (p.Phe314Cys) | |
2 | g.149570026A>G | CA348868876 | MMADHC | c.839T>C (p.Phe280Ser) c.941T>C (p.Phe314Ser) | |
2 | g.149570026A>T | CA348868878 | MMADHC | c.839T>A (p.Phe280Tyr) c.941T>A (p.Phe314Tyr) | |
2 | g.149570027A>C | CA348868882 | MMADHC | c.838T>G (p.Phe280Val) c.940T>G (p.Phe314Val) | |
2 | g.149570027A>G | CA348868883 | MMADHC | c.838T>C (p.Phe280Leu) c.940T>C (p.Phe314Leu) | |
2 | g.149570027A>T | CA348868885 | MMADHC | c.838T>A (p.Phe280Ile) c.940T>A (p.Phe314Ile) | |
2 | g.149570028del | CA2661422179 | MMADHC | c.837del (p.Phe280SerfsTer11) c.939del (p.Phe314SerfsTer11) | gnomAD v4 |
2 | g.149570028G>A | CA429405875 | MMADHC | c.837C>T (p.Ile279=) c.939C>T (p.Ile313=) | |
2 | g.149570028G>C | CA348868888 | MMADHC | c.837C>G (p.Ile279Met) c.939C>G (p.Ile313Met) | |
2 | g.149570028G>T | CA429405876 | MMADHC | c.837C>A (p.Ile279=) c.939C>A (p.Ile313=) | |
2 | g.149570029A>C | CA348868895 | MMADHC | c.836T>G (p.Ile279Ser) c.938T>G (p.Ile313Ser) | |
2 | g.149570029A>G | CA348868891 | MMADHC | c.836T>C (p.Ile279Thr) c.938T>C (p.Ile313Thr) | |
2 | g.149570029A>T | CA348868893 | MMADHC | c.836T>A (p.Ile279Asn) c.938T>A (p.Ile313Asn) | |
2 | g.149570030T>A | CA348868897 | MMADHC | c.835A>T (p.Ile279Phe) c.937A>T (p.Ile313Phe) | |
2 | g.149570030T>C | CA1902253 | MMADHC | c.835A>G (p.Ile279Val) c.937A>G (p.Ile313Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570030T>G | CA348868901 | MMADHC | c.835A>C (p.Ile279Leu) c.937A>C (p.Ile313Leu) | |
2 | g.149570030T= | CA1297264281 | MMADHC | c.835A= (p.Ile279=) c.937A= (p.Ile313=) | |
2 | g.149570031A>C | CA348868904 | MMADHC | c.834T>G (p.Ser278Arg) c.936T>G (p.Ser312Arg) | |
2 | g.149570031A>G | CA429405877 | MMADHC | c.834T>C (p.Ser278=) c.936T>C (p.Ser312=) | |
2 | g.149570031A>T | CA348868906 | MMADHC | c.834T>A (p.Ser278Arg) c.936T>A (p.Ser312Arg) | |
2 | g.149570032C>A | CA348868908 | MMADHC | c.833G>T (p.Ser278Ile) c.935G>T (p.Ser312Ile) | |
2 | g.149570032C>G | CA348868913 | MMADHC | c.833G>C (p.Ser278Thr) c.935G>C (p.Ser312Thr) | |
2 | g.149570032C>T | CA348868910 | MMADHC | c.833G>A (p.Ser278Asn) c.935G>A (p.Ser312Asn) | |
2 | g.149570033T>A | CA348868915 | MMADHC | c.832A>T (p.Ser278Cys) c.934A>T (p.Ser312Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570033T>C | CA348868917 | MMADHC | c.832A>G (p.Ser278Gly) c.934A>G (p.Ser312Gly) | |
2 | g.149570033T>G | CA348868919 | MMADHC | c.832A>C (p.Ser278Arg) c.934A>C (p.Ser312Arg) | |
2 | g.149570033T= | CA1297264282 | MMADHC | c.832A= (p.Ser278=) c.934A= (p.Ser312=) | |
2 | g.149570034C>A | CA429405881 | MMADHC | c.831G>T (p.Gly277=) c.933G>T (p.Gly311=) | |
2 | g.149570034C>G | CA429405880 | MMADHC | c.831G>C (p.Gly277=) c.933G>C (p.Gly311=) | |
2 | g.149570034C>T | CA429405879 | MMADHC | c.831G>A (p.Gly277=) c.933G>A (p.Gly311=) | |
2 | g.149570035C>A | CA348868921 | MMADHC | c.830G>T (p.Gly277Val) c.932G>T (p.Gly311Val) | |
2 | g.149570035C>G | CA348868923 | MMADHC | c.830G>C (p.Gly277Ala) c.932G>C (p.Gly311Ala) | |
2 | g.149570035C>T | CA348868924 | MMADHC | c.830G>A (p.Gly277Glu) c.932G>A (p.Gly311Glu) | COSMIC |
2 | g.149570036C>A | CA348868928 | MMADHC | c.829G>T (p.Gly277Trp) c.931G>T (p.Gly311Trp) | |
2 | g.149570036C>G | CA348868929 | MMADHC | c.829G>C (p.Gly277Arg) c.931G>C (p.Gly311Arg) | |
2 | g.149570036C>T | CA348868931 | MMADHC | c.829G>A (p.Gly277Arg) c.931G>A (p.Gly311Arg) | |
2 | g.149570037T>A | CA429405883 | MMADHC | c.828A>T (p.Val276=) c.930A>T (p.Val310=) | |
2 | g.149570037T>C | CA58332356 | MMADHC | c.828A>G (p.Val276=) c.930A>G (p.Val310=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570037T>G | CA429405884 | MMADHC | c.828A>C (p.Val276=) c.930A>C (p.Val310=) | |
2 | g.149570037T= | CA1297264283 | MMADHC | c.828A= (p.Val276=) c.930A= (p.Val310=) | |
2 | g.149570038A= | CA1297264284 | MMADHC | c.827T= (p.Val276=) c.929T= (p.Val310=) | |
2 | g.149570038A>C | CA348868934 | MMADHC | c.827T>G (p.Val276Gly) c.929T>G (p.Val310Gly) | |
2 | g.149570038A>G | CA348868936 | MMADHC | c.827T>C (p.Val276Ala) c.929T>C (p.Val310Ala) | dbSNP |
2 | g.149570038A>T | CA348868938 | MMADHC | c.827T>A (p.Val276Glu) c.929T>A (p.Val310Glu) | |
2 | g.149570039C>A | CA348868940 | MMADHC | c.826G>T (p.Val276Leu) c.928G>T (p.Val310Leu) | gnomAD v4 |
2 | g.149570039C= | CA1297264285 | MMADHC | c.826G= (p.Val276=) c.928G= (p.Val310=) | |
2 | g.149570039C>G | CA348868942 | MMADHC | c.826G>C (p.Val276Leu) c.928G>C (p.Val310Leu) | |
2 | g.149570039C>T | CA348868941 | MMADHC | c.826G>A (p.Val276Ile) c.928G>A (p.Val310Ile) | dbSNP gnomAD v4 |
2 | g.149570040A>C | CA429405885 | MMADHC | c.825T>G (p.Val275=) c.927T>G (p.Val309=) | |
2 | g.149570040A>G | CA429405886 | MMADHC | c.825T>C (p.Val275=) c.927T>C (p.Val309=) | ClinVar |
2 | g.149570040A>T | CA429405888 | MMADHC | c.825T>A (p.Val275=) c.927T>A (p.Val309=) | |
2 | g.149570041_149570044dup | CA2661422180 | MMADHC | c.822_825dup (p.Val276SerfsTer8) c.924_927dup (p.Val310SerfsTer8) | gnomAD v4 |
2 | g.149570041A>C | CA348868944 | MMADHC | c.824T>G (p.Val275Gly) c.926T>G (p.Val309Gly) | gnomAD v4 |
2 | g.149570041A>G | CA348868948 | MMADHC | c.824T>C (p.Val275Ala) c.926T>C (p.Val309Ala) | |
2 | g.149570041A>T | CA348868945 | MMADHC | c.824T>A (p.Val275Asp) c.926T>A (p.Val309Asp) | |
2 | g.149570042del | CA2661422181 | MMADHC | c.823del (p.Val275LeufsTer2) c.925del (p.Val309LeufsTer2) | gnomAD v4 |
2 | g.149570042C>A | CA348868950 | MMADHC | c.823G>T (p.Val275Phe) c.925G>T (p.Val309Phe) | |
2 | g.149570042C>G | CA348868953 | MMADHC | c.823G>C (p.Val275Leu) c.925G>C (p.Val309Leu) | |
2 | g.149570042C>T | CA348868954 | MMADHC | c.823G>A (p.Val275Ile) c.925G>A (p.Val309Ile) | |
2 | g.149570043T>A | CA429405889 | MMADHC | c.822A>T (p.Val274=) c.924A>T (p.Val308=) | |
2 | g.149570043T>C | CA429405890 | MMADHC | c.822A>G (p.Val274=) c.924A>G (p.Val308=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570043T>G | CA429405891 | MMADHC | c.822A>C (p.Val274=) c.924A>C (p.Val308=) | |
2 | g.149570043T= | CA1297264286 | MMADHC | c.822A= (p.Val274=) c.924A= (p.Val308=) | |
2 | g.149570044A>C | CA348868957 | MMADHC | c.821T>G (p.Val274Gly) c.923T>G (p.Val308Gly) | |
2 | g.149570044A>G | CA348868959 | MMADHC | c.821T>C (p.Val274Ala) c.923T>C (p.Val308Ala) | |
2 | g.149570044A>T | CA348868962 | MMADHC | c.821T>A (p.Val274Glu) c.923T>A (p.Val308Glu) | |
2 | g.149570045C>A | CA1902254 | MMADHC | c.820G>T (p.Val274Leu) c.922G>T (p.Val308Leu) | dbSNP ExAC |
2 | g.149570045C= | CA1297264287 | MMADHC | c.820G= (p.Val274=) c.922G= (p.Val308=) | |
2 | g.149570045C>G | CA348868966 | MMADHC | c.820G>C (p.Val274Leu) c.922G>C (p.Val308Leu) | |
2 | g.149570045C>T | CA348868968 | MMADHC | c.820G>A (p.Val274Ile) c.922G>A (p.Val308Ile) | dbSNP |
2 | g.149570046A= | CA1297264288 | MMADHC | c.819T= (p.His273=) c.921T= (p.His307=) | |
2 | g.149570046A>C | CA1902255 | MMADHC | c.819T>G (p.His273Gln) c.921T>G (p.His307Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570046A>G | CA429405892 | MMADHC | c.819T>C (p.His273=) c.921T>C (p.His307=) | ClinVar dbSNP gnomAD v4 |
2 | g.149570046A>T | CA348868971 | MMADHC | c.819T>A (p.His273Gln) c.921T>A (p.His307Gln) | |
2 | g.149570047T>A | CA348868975 | MMADHC | c.818A>T (p.His273Leu) c.920A>T (p.His307Leu) | |
2 | g.149570047T>C | CA348868974 | MMADHC | c.818A>G (p.His273Arg) c.920A>G (p.His307Arg) | gnomAD v4 |
2 | g.149570047T>G | CA348868973 | MMADHC | c.818A>C (p.His273Pro) c.920A>C (p.His307Pro) | |
2 | g.149570048G>A | CA348868994 | MMADHC | c.817C>T (p.His273Tyr) c.919C>T (p.His307Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570048G>C | CA348868995 | MMADHC | c.817C>G (p.His273Asp) c.919C>G (p.His307Asp) | |
2 | g.149570048G= | CA1297264289 | MMADHC | c.817C= (p.His273=) c.919C= (p.His307=) | |
2 | g.149570048G>T | CA348868997 | MMADHC | c.817C>A (p.His273Asn) c.919C>A (p.His307Asn) | |
2 | g.149570049G>A | CA429405893 | MMADHC | c.816C>T (p.Thr272=) c.918C>T (p.Thr306=) | |
2 | g.149570049G>C | CA429405894 | MMADHC | c.816C>G (p.Thr272=) c.918C>G (p.Thr306=) | COSMIC |
2 | g.149570049G>T | CA429405895 | MMADHC | c.816C>A (p.Thr272=) c.918C>A (p.Thr306=) | |
2 | g.149570050G>A | CA348868998 | MMADHC | c.815C>T (p.Thr272Ile) c.917C>T (p.Thr306Ile) | |
2 | g.149570050G>C | CA348869000 | MMADHC | c.815C>G (p.Thr272Ser) c.917C>G (p.Thr306Ser) | |
2 | g.149570050G= | CA1297264290 | MMADHC | c.815C= (p.Thr272=) c.917C= (p.Thr306=) | |
2 | g.149570050G>T | CA1902256 | MMADHC | c.815C>A (p.Thr272Asn) c.917C>A (p.Thr306Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570051T>A | CA348869003 | MMADHC | c.814A>T (p.Thr272Ser) c.916A>T (p.Thr306Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570051T>C | CA348869005 | MMADHC | c.814A>G (p.Thr272Ala) c.916A>G (p.Thr306Ala) | |
2 | g.149570051T>G | CA348869007 | MMADHC | c.814A>C (p.Thr272Pro) c.916A>C (p.Thr306Pro) | |
2 | g.149570051T= | CA1297264291 | MMADHC | c.814A= (p.Thr272=) c.916A= (p.Thr306=) | |
2 | g.149570052A>C | CA429405896 | MMADHC | c.813T>G (p.Gly271=) c.915T>G (p.Gly305=) | |
2 | g.149570052A>G | CA429405897 | MMADHC | c.813T>C (p.Gly271=) c.915T>C (p.Gly305=) | |
2 | g.149570052A>T | CA429405898 | MMADHC | c.813T>A (p.Gly271=) c.915T>A (p.Gly305=) | |
2 | g.149570053C>A | CA348869009 | MMADHC | c.812G>T (p.Gly271Val) c.914G>T (p.Gly305Val) | dbSNP gnomAD v4 |
2 | g.149570053C= | CA1297264292 | MMADHC | c.812G= (p.Gly271=) c.914G= (p.Gly305=) | |
2 | g.149570053C>G | CA348869012 | MMADHC | c.812G>C (p.Gly271Ala) c.914G>C (p.Gly305Ala) | gnomAD v4 |
2 | g.149570053C>T | CA1902257 | MMADHC | c.812G>A (p.Gly271Asp) c.914G>A (p.Gly305Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570054C>A | CA348869020 | MMADHC | c.811G>T (p.Gly271Cys) c.913G>T (p.Gly305Cys) | dbSNP gnomAD v4 COSMIC |
2 | g.149570054C= | CA1297264293 | MMADHC | c.811G= (p.Gly271=) c.913G= (p.Gly305=) | |
2 | g.149570054C>G | CA348869018 | MMADHC | c.811G>C (p.Gly271Arg) c.913G>C (p.Gly305Arg) | |
2 | g.149570054C>T | CA348869016 | MMADHC | c.811G>A (p.Gly271Ser) c.913G>A (p.Gly305Ser) | |
2 | g.149570055C>A | CA348869022 | MMADHC | c.810G>T (p.Trp270Cys) c.912G>T (p.Trp304Cys) | |
2 | g.149570055C>G | CA348869025 | MMADHC | c.810G>C (p.Trp270Cys) c.912G>C (p.Trp304Cys) | |
2 | g.149570055C>T | CA348869027 | MMADHC | c.810G>A (p.Trp270Ter) c.912G>A (p.Trp304Ter) | |
2 | g.149570055_149570057delinsCCA | CA1297264294 | MMADHC | c.808_810delinsTGG (p.Trp270=) c.910_912delinsTGG (p.Trp304=) | |
2 | g.149570056C>A | CA348869029 | MMADHC | c.809G>T (p.Trp270Leu) c.911G>T (p.Trp304Leu) | |
2 | g.149570056C>G | CA348869031 | MMADHC | c.809G>C (p.Trp270Ser) c.911G>C (p.Trp304Ser) | |
2 | g.149570056C>T | CA348869032 | MMADHC | c.809G>A (p.Trp270Ter) c.911G>A (p.Trp304Ter) | COSMIC |
2 | g.149570056_149570057del | CA1297264295 | MMADHC | c.808_809del (p.Trp270GlyfsTer12) c.910_911del (p.Trp304GlyfsTer12) | dbSNP |
2 | g.149570057A>C | CA348869034 | MMADHC | c.808T>G (p.Trp270Gly) c.910T>G (p.Trp304Gly) | |
2 | g.149570057A>G | CA348869036 | MMADHC | c.808T>C (p.Trp270Arg) c.910T>C (p.Trp304Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.149570057A>T | CA348869038 | MMADHC | c.808T>A (p.Trp270Arg) c.910T>A (p.Trp304Arg) | |
2 | g.149570058G>A | CA429405899 | MMADHC | c.807C>T (p.Leu269=) c.909C>T (p.Leu303=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570058G>C | CA429405900 | MMADHC | c.807C>G (p.Leu269=) c.909C>G (p.Leu303=) | |
2 | g.149570058G= | CA1297264296 | MMADHC | c.807C= (p.Leu269=) c.909C= (p.Leu303=) | |
2 | g.149570058G>T | CA429405901 | MMADHC | c.807C>A (p.Leu269=) c.909C>A (p.Leu303=) | |
2 | g.149570059A= | CA1297264297 | MMADHC | c.806T= (p.Leu269=) c.908T= (p.Leu303=) | |
2 | g.149570059A>C | CA348869039 | MMADHC | c.806T>G (p.Leu269Arg) c.908T>G (p.Leu303Arg) | gnomAD v4 |
2 | g.149570059A>G | CA348869041 | MMADHC | c.806T>C (p.Leu269Pro) c.908T>C (p.Leu303Pro) | dbSNP |
2 | g.149570059A>T | CA348869043 | MMADHC | c.806T>A (p.Leu269His) c.908T>A (p.Leu303His) | |
2 | g.149570060G>A | CA348869047 | MMADHC | c.805C>T (p.Leu269Phe) c.907C>T (p.Leu303Phe) | gnomAD v4 |
2 | g.149570060G>C | CA348869049 | MMADHC | c.805C>G (p.Leu269Val) c.907C>G (p.Leu303Val) | gnomAD v4 |
2 | g.149570060G>T | CA348869045 | MMADHC | c.805C>A (p.Leu269Ile) c.907C>A (p.Leu303Ile) | |
2 | g.149570061A= | CA1297264298 | MMADHC | c.804T= (p.Ser268=) c.906T= (p.Ser302=) | |
2 | g.149570061A>C | CA348869051 | MMADHC | c.804T>G (p.Ser268Arg) c.906T>G (p.Ser302Arg) | dbSNP |
2 | g.149570061A>G | CA429405903 | MMADHC | c.804T>C (p.Ser268=) c.906T>C (p.Ser302=) | |
2 | g.149570061A>T | CA348869053 | MMADHC | c.804T>A (p.Ser268Arg) c.906T>A (p.Ser302Arg) | gnomAD v4 |
2 | g.149570062C>A | CA348869054 | MMADHC | c.803G>T (p.Ser268Ile) c.905G>T (p.Ser302Ile) | |
2 | g.149570062C>G | CA348869056 | MMADHC | c.803G>C (p.Ser268Thr) c.905G>C (p.Ser302Thr) | |
2 | g.149570062C>T | CA348869058 | MMADHC | c.803G>A (p.Ser268Asn) c.905G>A (p.Ser302Asn) | gnomAD v4 |
2 | g.149570063T>A | CA348869064 | MMADHC | c.802A>T (p.Ser268Cys) c.904A>T (p.Ser302Cys) | |
2 | g.149570063T>C | CA348869061 | MMADHC | c.802A>G (p.Ser268Gly) c.904A>G (p.Ser302Gly) | |
2 | g.149570063T>G | CA348869063 | MMADHC | c.802A>C (p.Ser268Arg) c.904A>C (p.Ser302Arg) | dbSNP gnomAD v4 |
2 | g.149570063T= | CA1297264299 | MMADHC | c.802A= (p.Ser268=) c.904A= (p.Ser302=) | |
2 | g.149570064A>C | CA348869068 | MMADHC | c.801T>G (p.His267Gln) c.903T>G (p.His301Gln) | |
2 | g.149570064A>G | CA429405904 | MMADHC | c.801T>C (p.His267=) c.903T>C (p.His301=) | |
2 | g.149570064A>T | CA348869070 | MMADHC | c.801T>A (p.His267Gln) c.903T>A (p.His301Gln) | |
2 | g.149570065T>A | CA348869072 | MMADHC | c.800A>T (p.His267Leu) c.902A>T (p.His301Leu) | |
2 | g.149570065T>C | CA1902258 | MMADHC | c.800A>G (p.His267Arg) c.902A>G (p.His301Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.149570065T>G | CA348869074 | MMADHC | c.800A>C (p.His267Pro) c.902A>C (p.His301Pro) | |
2 | g.149570065T= | CA1297264300 | MMADHC | c.800A= (p.His267=) c.902A= (p.His301=) | |
2 | g.149570066G>A | CA348869077 | MMADHC | c.799C>T (p.His267Tyr) c.901C>T (p.His301Tyr) | |
2 | g.149570066G>C | CA348869081 | MMADHC | c.799C>G (p.His267Asp) c.901C>G (p.His301Asp) | |
2 | g.149570066G>T | CA348869079 | MMADHC | c.799C>A (p.His267Asn) c.901C>A (p.His301Asn) | |
2 | g.149570067A>C | CA429405905 | MMADHC | c.798T>G (p.Arg266=) c.900T>G (p.Arg300=) | |
2 | g.149570067A>G | CA429405907 | MMADHC | c.798T>C (p.Arg266=) c.900T>C (p.Arg300=) | |
2 | g.149570067A>T | CA429405906 | MMADHC | c.798T>A (p.Arg266=) c.900T>A (p.Arg300=) | |
2 | g.149570068C>A | CA1902259 | MMADHC | c.797G>T (p.Arg266Leu) c.899G>T (p.Arg300Leu) | dbSNP ExAC gnomAD v4 |
2 | g.149570068C= | CA1297264301 | MMADHC | c.797G= (p.Arg266=) c.899G= (p.Arg300=) | |
2 | g.149570068C>G | CA348869086 | MMADHC | c.797G>C (p.Arg266Pro) c.899G>C (p.Arg300Pro) | |
2 | g.149570068C>T | CA1902260 | MMADHC | c.797G>A (p.Arg266His) c.899G>A (p.Arg300His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.149570069G>A | CA348869088 | MMADHC | c.796C>T (p.Arg266Cys) c.898C>T (p.Arg300Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.149570069G>C | CA348869093 | MMADHC | c.796C>G (p.Arg266Gly) c.898C>G (p.Arg300Gly) | gnomAD v4 |
2 | g.149570069G= | CA1297264302 | MMADHC | c.796C= (p.Arg266=) c.898C= (p.Arg300=) | |
2 | g.149570069G>T | CA348869090 | MMADHC | c.796C>A (p.Arg266Ser) c.898C>A (p.Arg300Ser) | |
2 | g.149570070A= | CA1297264303 | MMADHC | c.795T= (p.Ile265=) c.897T= (p.Ile299=) | |
2 | g.149570070A>C | CA348869095 | MMADHC | c.795T>G (p.Ile265Met) c.897T>G (p.Ile299Met) | |
2 | g.149570070A>G | CA429405908 | MMADHC | c.795T>C (p.Ile265=) c.897T>C (p.Ile299=) | ClinVar dbSNP |
2 | g.149570070A>T | CA429405909 | MMADHC | c.795T>A (p.Ile265=) c.897T>A (p.Ile299=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570070_149570071insTA | CA2661422182 | MMADHC | c.795_796insAT (p.Arg266IlefsTer10) c.897_898insAT (p.Arg300IlefsTer10) | gnomAD v4 |
2 | g.149570071A>C | CA348869097 | MMADHC | c.794T>G (p.Ile265Ser) c.896T>G (p.Ile299Ser) | |
2 | g.149570071A>G | CA348869099 | MMADHC | c.794T>C (p.Ile265Thr) c.896T>C (p.Ile299Thr) | |
2 | g.149570071A>T | CA348869100 | MMADHC | c.794T>A (p.Ile265Asn) c.896T>A (p.Ile299Asn) | |
2 | g.149570072T>A | CA348869102 | MMADHC | c.793A>T (p.Ile265Phe) c.895A>T (p.Ile299Phe) | |
2 | g.149570072T>C | CA348869104 | MMADHC | c.793A>G (p.Ile265Val) c.895A>G (p.Ile299Val) | |
2 | g.149570072T>G | CA348869106 | MMADHC | c.793A>C (p.Ile265Leu) c.895A>C (p.Ile299Leu) | gnomAD v4 |
2 | g.149570073C>A | CA429405910 | MMADHC | c.792G>T (p.Val264=) c.894G>T (p.Val298=) | |
2 | g.149570073C>G | CA429405912 | MMADHC | c.792G>C (p.Val264=) c.894G>C (p.Val298=) | |
2 | g.149570073C>T | CA429405911 | MMADHC | c.792G>A (p.Val264=) c.894G>A (p.Val298=) | gnomAD v4 |
2 | g.149570074A>C | CA348869108 | MMADHC | c.791T>G (p.Val264Gly) c.893T>G (p.Val298Gly) | |
2 | g.149570074A>G | CA348869110 | MMADHC | c.791T>C (p.Val264Ala) c.893T>C (p.Val298Ala) | |
2 | g.149570074A>T | CA348869111 | MMADHC | c.791T>A (p.Val264Glu) c.893T>A (p.Val298Glu) | |
2 | g.149570075C>A | CA348869119 | MMADHC | c.790G>T (p.Val264Leu) c.892G>T (p.Val298Leu) | dbSNP |
2 | g.149570075C= | CA1297264304 | MMADHC | c.790G= (p.Val264=) c.892G= (p.Val298=) | |
2 | g.149570075C>G | CA348869115 | MMADHC | c.790G>C (p.Val264Leu) c.892G>C (p.Val298Leu) | |
2 | g.149570075C>T | CA348869117 | MMADHC | c.790G>A (p.Val264Met) c.892G>A (p.Val298Met) | |
2 | g.149570076T>A | CA348869122 | MMADHC | c.789A>T (p.Lys263Asn) c.891A>T (p.Lys297Asn) | |
2 | g.149570076T>C | CA429405913 | MMADHC | c.789A>G (p.Lys263=) c.891A>G (p.Lys297=) | |
2 | g.149570076T>G | CA348869124 | MMADHC | c.789A>C (p.Lys263Asn) c.891A>C (p.Lys297Asn) | |
2 | g.149570077T>A | CA348869127 | MMADHC | c.788A>T (p.Lys263Ile) c.890A>T (p.Lys297Ile) | |
2 | g.149570077T>C | CA348869129 | MMADHC | c.788A>G (p.Lys263Arg) c.890A>G (p.Lys297Arg) | |
2 | g.149570077T>G | CA348869131 | MMADHC | c.788A>C (p.Lys263Thr) c.890A>C (p.Lys297Thr) | |
2 | g.149570078T>A | CA348869134 | MMADHC | c.787A>T (p.Lys263Ter) c.889A>T (p.Lys297Ter) | ClinVar |
2 | g.149570078T>C | CA1902261 | MMADHC | c.787A>G (p.Lys263Glu) c.889A>G (p.Lys297Glu) | dbSNP ExAC gnomAD v2 |
2 | g.149570078T>G | CA348869137 | MMADHC | c.787A>C (p.Lys263Gln) c.889A>C (p.Lys297Gln) | |
2 | g.149570078T= | CA1297264305 | MMADHC | c.787A= (p.Lys263=) c.889A= (p.Lys297=) | |
2 | g.149570079A= | CA1297264306 | MMADHC | c.786T= (p.Cys262=) c.888T= (p.Cys296=) | |
2 | g.149570079A>C | CA348869139 | MMADHC | c.786T>G (p.Cys262Trp) c.888T>G (p.Cys296Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570079A>G | CA429405914 | MMADHC | c.786T>C (p.Cys262=) c.888T>C (p.Cys296=) | |
2 | g.149570079A>T | CA348869141 | MMADHC | c.786T>A (p.Cys262Ter) c.888T>A (p.Cys296Ter) | |
2 | g.149570080C>A | CA348869147 | MMADHC | c.785G>T (p.Cys262Phe) c.887G>T (p.Cys296Phe) | |
2 | g.149570080C= | CA1297264307 | MMADHC | c.785G= (p.Cys262=) c.887G= (p.Cys296=) | |
2 | g.149570080C>G | CA348869150 | MMADHC | c.785G>C (p.Cys262Ser) c.887G>C (p.Cys296Ser) | |
2 | g.149570080C>T | CA1902262 | MMADHC | c.785G>A (p.Cys262Tyr) c.887G>A (p.Cys296Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570081A>C | CA348869152 | MMADHC | c.784T>G (p.Cys262Gly) c.886T>G (p.Cys296Gly) | |
2 | g.149570081A>G | CA348869155 | MMADHC | c.784T>C (p.Cys262Arg) c.886T>C (p.Cys296Arg) | |
2 | g.149570081A>T | CA348869157 | MMADHC | c.784T>A (p.Cys262Ser) c.886T>A (p.Cys296Ser) | |
2 | g.149570082G>A | CA429405915 | MMADHC | c.783C>T (p.Cys261=) c.885C>T (p.Cys295=) | |
2 | g.149570082G>C | CA348869160 | MMADHC | c.783C>G (p.Cys261Trp) c.885C>G (p.Cys295Trp) | |
2 | g.149570082G>T | CA348869161 | MMADHC | c.783C>A (p.Cys261Ter) c.885C>A (p.Cys295Ter) | |
2 | g.149570083C>A | CA348869165 | MMADHC | c.782G>T (p.Cys261Phe) c.884G>T (p.Cys295Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.149570083C= | CA1297264308 | MMADHC | c.782G= (p.Cys261=) c.884G= (p.Cys295=) | |
2 | g.149570083C>G | CA348869166 | MMADHC | c.782G>C (p.Cys261Ser) c.884G>C (p.Cys295Ser) | |
2 | g.149570083C>T | CA348869168 | MMADHC | c.782G>A (p.Cys261Tyr) c.884G>A (p.Cys295Tyr) | |
2 | g.149570084A= | CA1297264309 | MMADHC | c.781T= (p.Cys261=) c.883T= (p.Cys295=) | |
2 | g.149570084A>C | CA348869170 | MMADHC | c.781T>G (p.Cys261Gly) c.883T>G (p.Cys295Gly) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570084A>G | CA348869171 | MMADHC | c.781T>C (p.Cys261Arg) c.883T>C (p.Cys295Arg) | |
2 | g.149570084A>T | CA348869173 | MMADHC | c.781T>A (p.Cys261Ser) c.883T>A (p.Cys295Ser) | |
2 | g.149570085T>A | CA429405916 | MMADHC | c.780A>T (p.Gly260=) c.882A>T (p.Gly294=) | dbSNP |
2 | g.149570085T>C | CA429405917 | MMADHC | c.780A>G (p.Gly260=) c.882A>G (p.Gly294=) | |
2 | g.149570085T>G | CA429405918 | MMADHC | c.780A>C (p.Gly260=) c.882A>C (p.Gly294=) | |
2 | g.149570085T= | CA1297264310 | MMADHC | c.780A= (p.Gly260=) c.882A= (p.Gly294=) | |
2 | g.149570086C>A | CA348869178 | MMADHC | c.779G>T (p.Gly260Val) c.881G>T (p.Gly294Val) | |
2 | g.149570086C>G | CA348869180 | MMADHC | c.779G>C (p.Gly260Ala) c.881G>C (p.Gly294Ala) | |
2 | g.149570086C>T | CA348869175 | MMADHC | c.779G>A (p.Gly260Glu) c.881G>A (p.Gly294Glu) | |
2 | g.149570087C>A | CA348869182 | MMADHC | c.778G>T (p.Gly260Ter) c.880G>T (p.Gly294Ter) | |
2 | g.149570087C>G | CA348869184 | MMADHC | c.778G>C (p.Gly260Arg) c.880G>C (p.Gly294Arg) | COSMIC |
2 | g.149570087C>T | CA348869186 | MMADHC | c.778G>A (p.Gly260Arg) c.880G>A (p.Gly294Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.149570088A>C | CA429405919 | MMADHC | c.777T>G (p.Leu259=) c.879T>G (p.Leu293=) | |
2 | g.149570088A>G | CA429405920 | MMADHC | c.777T>C (p.Leu259=) c.879T>C (p.Leu293=) | |
2 | g.149570088A>T | CA429405921 | MMADHC | c.777T>A (p.Leu259=) c.879T>A (p.Leu293=) | |
2 | g.149570089A= | CA1297264311 | MMADHC | c.776T= (p.Leu259=) c.878T= (p.Leu293=) | |
2 | g.149570089A>C | CA348869189 | MMADHC | c.776T>G (p.Leu259Arg) c.878T>G (p.Leu293Arg) | |
2 | g.149570089A>G | CA114486 | MMADHC | c.776T>C (p.Leu259Pro) c.878T>C (p.Leu293Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.149570089A>T | CA348869193 | MMADHC | c.776T>A (p.Leu259His) c.878T>A (p.Leu293His) | |
2 | g.149570090G>A | CA1902263 | MMADHC | c.775C>T (p.Leu259Phe) c.877C>T (p.Leu293Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.149570090G>C | CA1902264 | MMADHC | c.775C>G (p.Leu259Val) c.877C>G (p.Leu293Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.149570090G= | CA1297264312 | MMADHC | c.775C= (p.Leu259=) c.877C= (p.Leu293=) | |
2 | g.149570090G>T | CA348869197 | MMADHC | c.775C>A (p.Leu259Ile) c.877C>A (p.Leu293Ile) | |
2 | g.149570091G>A | CA429405922 | MMADHC | c.774C>T (p.Asp258=) c.876C>T (p.Asp292=) | |
2 | g.149570091G>C | CA348869201 | MMADHC | c.774C>G (p.Asp258Glu) c.876C>G (p.Asp292Glu) | |
2 | g.149570091G= | CA1297264313 | MMADHC | c.774C= (p.Asp258=) c.876C= (p.Asp292=) | |
2 | g.149570091G>T | CA58332357 | MMADHC | c.774C>A (p.Asp258Glu) c.876C>A (p.Asp292Glu) | dbSNP |
2 | g.149570091_149570106del | CA2752638764 | MMADHC | c.759_774del (p.Phe254LeufsTer6) c.861_876del (p.Phe288LeufsTer6) | |
2 | g.149570092T>A | CA348869205 | MMADHC | c.773A>T (p.Asp258Val) c.875A>T (p.Asp292Val) | |
2 | g.149570092T>C | CA348869207 | MMADHC | c.773A>G (p.Asp258Gly) c.875A>G (p.Asp292Gly) | |
2 | g.149570092T>G | CA348869210 | MMADHC | c.773A>C (p.Asp258Ala) c.875A>C (p.Asp292Ala) | |
2 | g.149570093C>A | CA348869213 | MMADHC | c.772G>T (p.Asp258Tyr) c.874G>T (p.Asp292Tyr) | |
2 | g.149570093C>G | CA348869216 | MMADHC | c.772G>C (p.Asp258His) c.874G>C (p.Asp292His) | |
2 | g.149570093C>T | CA348869212 | MMADHC | c.772G>A (p.Asp258Asn) c.874G>A (p.Asp292Asn) | |
2 | g.149570094A>C | CA348869218 | MMADHC | c.771T>G (p.Asp257Glu) c.873T>G (p.Asp291Glu) | |
2 | g.149570094A>G | CA429405923 | MMADHC | c.771T>C (p.Asp257=) c.873T>C (p.Asp291=) | |
2 | g.149570094A>T | CA348869220 | MMADHC | c.771T>A (p.Asp257Glu) c.873T>A (p.Asp291Glu) |