UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.73196535A= | CA2274431938 | COG1 | c.344A= (p.Tyr115=) c.342A= c.341A= | |
| 17 | g.73196535A>C | CA400882861 | COG1 | c.344A>C (p.Tyr115Ser) c.342A>C c.341A>C | |
| 17 | g.73196535A>G | CA8739941 | COG1 | c.344A>G (p.Tyr115Cys) c.342A>G c.341A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196535A>T | CA400882864 | COG1 | c.344A>T (p.Tyr115Phe) c.342A>T c.341A>T | |
| 17 | g.73196536C>A | CA400882866 | COG1 | c.345C>A (p.Tyr115Ter) c.343C>A c.342C>A | |
| 17 | g.73196536C= | CA2274431939 | COG1 | c.345C= (p.Tyr115=) c.343C= c.342C= | |
| 17 | g.73196536C>G | CA400882868 | COG1 | c.345C>G (p.Tyr115Ter) c.343C>G c.342C>G | |
| 17 | g.73196536C>T | CA502026194 | COG1 | c.345C>T (p.Tyr115=) c.343C>T c.342C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196537A= | CA2274431940 | COG1 | c.346A= (p.Ser116=) c.344A= c.343A= | |
| 17 | g.73196537A>C | CA400882870 | COG1 | c.346A>C (p.Ser116Arg) c.344A>C c.343A>C | |
| 17 | g.73196537A>G | CA400882872 | COG1 | c.346A>G (p.Ser116Gly) c.344A>G c.343A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196537A>T | CA400882874 | COG1 | c.346A>T (p.Ser116Cys) c.344A>T c.343A>T | |
| 17 | g.73196538G>A | CA400882877 | COG1 | c.347G>A (p.Ser116Asn) c.345G>A c.344G>A | |
| 17 | g.73196538G>C | CA400882878 | COG1 | c.347G>C (p.Ser116Thr) c.345G>C c.344G>C | |
| 17 | g.73196538G>T | CA400882876 | COG1 | c.347G>T (p.Ser116Ile) c.345G>T c.344G>T | |
| 17 | g.73196539C>A | CA400882880 | COG1 | c.348C>A (p.Ser116Arg) c.346C>A c.345C>A | |
| 17 | g.73196539C>G | CA400882882 | COG1 | c.348C>G (p.Ser116Arg) c.346C>G c.345C>G | |
| 17 | g.73196539C>T | CA502026198 | COG1 | c.348C>T (p.Ser116=) c.346C>T c.345C>T | gnomAD v4 |
| 17 | g.73196540A>C | CA400882885 | COG1 | c.349A>C (p.Met117Leu) c.347A>C c.346A>C | |
| 17 | g.73196540A>G | CA400882886 | COG1 | c.349A>G (p.Met117Val) c.347A>G c.346A>G | |
| 17 | g.73196540A>T | CA400882888 | COG1 | c.349A>T (p.Met117Leu) c.347A>T c.346A>T | |
| 17 | g.73196541T>A | CA400882894 | COG1 | c.350T>A (p.Met117Lys) c.348T>A c.347T>A | |
| 17 | g.73196541T>C | CA400882892 | COG1 | c.350T>C (p.Met117Thr) c.348T>C c.347T>C | |
| 17 | g.73196541T>G | CA400882891 | COG1 | c.350T>G (p.Met117Arg) c.348T>G c.347T>G | gnomAD v4 |
| 17 | g.73196542G>A | CA293799276 | COG1 | c.351G>A (p.Met117Ile) c.349G>A c.348G>A | dbSNP gnomAD v4 |
| 17 | g.73196542G>C | CA400882895 | COG1 | c.351G>C (p.Met117Ile) c.349G>C c.348G>C | |
| 17 | g.73196542G= | CA2274431941 | COG1 | c.351G= (p.Met117=) c.349G= c.348G= | |
| 17 | g.73196542G>T | CA400882897 | COG1 | c.351G>T (p.Met117Ile) c.349G>T c.348G>T | |
| 17 | g.73196543G>A | CA400882899 | COG1 | c.352G>A (p.Ala118Thr) c.350G>A c.349G>A | |
| 17 | g.73196543G>C | CA400882901 | COG1 | c.352G>C (p.Ala118Pro) c.350G>C c.349G>C | |
| 17 | g.73196543G= | CA2274431942 | COG1 | c.352G= (p.Ala118=) c.350G= c.349G= | |
| 17 | g.73196543G>T | CA8739942 | COG1 | c.352G>T (p.Ala118Ser) c.350G>T c.349G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196544C>A | CA400882905 | COG1 | c.353C>A (p.Ala118Asp) c.351C>A c.350C>A | |
| 17 | g.73196544C>G | CA400882908 | COG1 | c.353C>G (p.Ala118Gly) c.351C>G c.350C>G | |
| 17 | g.73196544C>T | CA400882906 | COG1 | c.353C>T (p.Ala118Val) c.351C>T c.350C>T | |
| 17 | g.73196545T>A | CA502026205 | COG1 | c.354T>A (p.Ala118=) c.352T>A c.351T>A | |
| 17 | g.73196545T>C | CA502026206 | COG1 | c.354T>C (p.Ala118=) c.352T>C c.351T>C | |
| 17 | g.73196545T>G | CA502026207 | COG1 | c.354T>G (p.Ala118=) c.352T>G c.351T>G | |
| 17 | g.73196546G>A | CA293799305 | COG1 | c.355G>A (p.Ala119Thr) c.353G>A c.352G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196546G>C | CA400882911 | COG1 | c.355G>C (p.Ala119Pro) c.353G>C c.352G>C | gnomAD v4 |
| 17 | g.73196546G= | CA2274431943 | COG1 | c.355G= (p.Ala119=) c.353G= c.352G= | |
| 17 | g.73196546G>T | CA400882913 | COG1 | c.355G>T (p.Ala119Ser) c.353G>T c.352G>T | |
| 17 | g.73196547C>A | CA400882915 | COG1 | c.356C>A (p.Ala119Asp) c.354C>A c.353C>A | |
| 17 | g.73196547C= | CA2274431944 | COG1 | c.356C= (p.Ala119=) c.354C= c.353C= | |
| 17 | g.73196547C>G | CA400882916 | COG1 | c.356C>G (p.Ala119Gly) c.354C>G c.353C>G | |
| 17 | g.73196547C>T | CA8739943 | COG1 | c.356C>T (p.Ala119Val) c.354C>T c.353C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196548C>A | CA502026211 | COG1 | c.357C>A (p.Ala119=) c.355C>A c.354C>A | gnomAD v4 |
| 17 | g.73196548C>G | CA502026212 | COG1 | c.357C>G (p.Ala119=) c.355C>G c.354C>G | |
| 17 | g.73196548C>T | CA502026213 | COG1 | c.357C>T (p.Ala119=) c.355C>T c.354C>T | |
| 17 | g.73196549C>A | CA400882919 | COG1 | c.358C>A (p.Gln120Lys) c.356C>A c.355C>A | |
| 17 | g.73196549C>G | CA400882921 | COG1 | c.358C>G (p.Gln120Glu) c.356C>G c.355C>G | |
| 17 | g.73196549C>T | CA400882923 | COG1 | c.358C>T (p.Gln120Ter) c.356C>T c.355C>T | |
| 17 | g.73196550A>C | CA400882925 | COG1 | c.359A>C (p.Gln120Pro) c.357A>C c.356A>C | gnomAD v4 |
| 17 | g.73196550A>G | CA400882927 | COG1 | c.359A>G (p.Gln120Arg) c.357A>G c.356A>G | |
| 17 | g.73196550A>T | CA400882929 | COG1 | c.359A>T (p.Gln120Leu) c.357A>T c.356A>T | |
| 17 | g.73196551G>A | CA502026215 | COG1 | c.360G>A (p.Gln120=) c.358G>A c.357G>A | gnomAD v4 |
| 17 | g.73196551G>C | CA400882933 | COG1 | c.360G>C (p.Gln120His) c.358G>C c.357G>C | |
| 17 | g.73196551G>T | CA400882931 | COG1 | c.360G>T (p.Gln120His) c.358G>T c.357G>T | |
| 17 | g.73196552A= | CA2274431945 | COG1 | c.361A= (p.Ile121=) c.359A= c.358A= | |
| 17 | g.73196552A>C | CA400882936 | COG1 | c.361A>C (p.Ile121Leu) c.359A>C c.358A>C | |
| 17 | g.73196552A>G | CA400882942 | COG1 | c.361A>G (p.Ile121Val) c.359A>G c.358A>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196552A>T | CA400882940 | COG1 | c.361A>T (p.Ile121Phe) c.359A>T c.358A>T | |
| 17 | g.73196553T>A | CA400882945 | COG1 | c.362T>A (p.Ile121Asn) c.360T>A c.359T>A | |
| 17 | g.73196553T>C | CA400882946 | COG1 | c.362T>C (p.Ile121Thr) c.360T>C c.359T>C | |
| 17 | g.73196553T>G | CA400882948 | COG1 | c.362T>G (p.Ile121Ser) c.360T>G c.359T>G | |
| 17 | g.73196554C>A | CA502026218 | COG1 | c.363C>A (p.Ile121=) c.361C>A c.360C>A | |
| 17 | g.73196554C= | CA2274431946 | COG1 | c.363C= (p.Ile121=) c.361C= c.360C= | |
| 17 | g.73196554C>G | CA8739944 | COG1 | c.363C>G (p.Ile121Met) c.361C>G c.360C>G | dbSNP ExAC gnomAD v2 |
| 17 | g.73196554C>T | CA502026219 | COG1 | c.363C>T (p.Ile121=) c.361C>T c.360C>T | |
| 17 | g.73196555A>C | CA400882952 | COG1 | c.364A>C (p.Lys122Gln) c.362A>C c.361A>C | |
| 17 | g.73196555A>G | CA400882956 | COG1 | c.364A>G (p.Lys122Glu) c.362A>G c.361A>G | |
| 17 | g.73196555A>T | CA400882958 | COG1 | c.364A>T (p.Lys122Ter) c.362A>T c.361A>T | |
| 17 | g.73196556del | CA2639623013 | COG1 | c.365del (p.Lys122SerfsTer4) c.363del c.362del | gnomAD v4 |
| 17 | g.73196556A>C | CA400882961 | COG1 | c.365A>C (p.Lys122Thr) c.363A>C c.362A>C | |
| 17 | g.73196556A>G | CA400882963 | COG1 | c.365A>G (p.Lys122Arg) c.363A>G c.362A>G | |
| 17 | g.73196556A>T | CA400882966 | COG1 | c.365A>T (p.Lys122Met) c.363A>T c.362A>T | |
| 17 | g.73196557G>A | CA502026222 | COG1 | c.366G>A (p.Lys122=) c.364G>A c.363G>A | |
| 17 | g.73196557G>C | CA400882969 | COG1 | c.366G>C (p.Lys122Asn) c.364G>C c.363G>C | |
| 17 | g.73196557G= | CA2274431947 | COG1 | c.366G= (p.Lys122=) c.364G= c.363G= | |
| 17 | g.73196557G>T | CA400882970 | COG1 | c.366G>T (p.Lys122Asn) c.364G>T c.363G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196558C>A | CA400882973 | COG1 | c.367C>A (p.Leu123Ile) c.365C>A c.364C>A | |
| 17 | g.73196558C= | CA2274431948 | COG1 | c.367C= (p.Leu123=) c.365C= c.364C= | |
| 17 | g.73196558C>G | CA8739945 | COG1 | c.367C>G (p.Leu123Val) c.365C>G c.364C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196558C>T | CA502026224 | COG1 | c.367C>T (p.Leu123=) c.365C>T c.364C>T | |
| 17 | g.73196559T>A | CA400882975 | COG1 | c.368T>A (p.Leu123Gln) c.366T>A c.365T>A | |
| 17 | g.73196559T>C | CA400882977 | COG1 | c.368T>C (p.Leu123Pro) c.366T>C c.365T>C | |
| 17 | g.73196559T>G | CA400882980 | COG1 | c.368T>G (p.Leu123Arg) c.366T>G c.365T>G | |
| 17 | g.73196560A>C | CA502026227 | COG1 | c.369A>C (p.Leu123=) c.367A>C c.366A>C | |
| 17 | g.73196560A>G | CA502026229 | COG1 | c.369A>G (p.Leu123=) c.367A>G c.366A>G | |
| 17 | g.73196560A>T | CA502026228 | COG1 | c.369A>T (p.Leu123=) c.367A>T c.366A>T | |
| 17 | g.73196561C>A | CA400882983 | COG1 | c.370C>A (p.Leu124Ile) c.368C>A c.367C>A | |
| 17 | g.73196561C= | CA2274431949 | COG1 | c.370C= (p.Leu124=) c.368C= c.367C= | |
| 17 | g.73196561C>G | CA400882985 | COG1 | c.370C>G (p.Leu124Val) c.368C>G c.367C>G | dbSNP |
| 17 | g.73196561C>T | CA400882986 | COG1 | c.370C>T (p.Leu124Phe) c.368C>T c.367C>T | |
| 17 | g.73196562T>A | CA400882991 | COG1 | c.371T>A (p.Leu124His) c.369T>A c.368T>A | |
| 17 | g.73196562T>C | CA400882988 | COG1 | c.371T>C (p.Leu124Pro) c.369T>C c.368T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196562T>G | CA400882990 | COG1 | c.371T>G (p.Leu124Arg) c.369T>G c.368T>G | |
| 17 | g.73196562T= | CA2274431950 | COG1 | c.371T= (p.Leu124=) c.369T= c.368T= | |
| 17 | g.73196563C>A | CA8739947 | COG1 | c.372C>A (p.Leu124=) c.370C>A c.369C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196563C= | CA2274431951 | COG1 | c.372C= (p.Leu124=) c.370C= c.369C= | |
| 17 | g.73196563C>G | CA8739946 | COG1 | c.372C>G (p.Leu124=) c.370C>G c.369C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196563C>T | CA502026233 | COG1 | c.372C>T (p.Leu124=) c.370C>T c.369C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196564T>A | CA400882994 | COG1 | c.373T>A (p.Leu125Ile) c.371T>A c.370T>A | |
| 17 | g.73196564T>C | CA293799331 | COG1 | c.373T>C (p.Leu125=) c.371T>C c.370T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196564T>G | CA400882996 | COG1 | c.373T>G (p.Leu125Val) c.371T>G c.370T>G | gnomAD v4 |
| 17 | g.73196564T= | CA2274431952 | COG1 | c.373T= (p.Leu125=) c.371T= c.370T= | |
| 17 | g.73196565T>A | CA8739948 | COG1 | c.374T>A (p.Leu125Ter) c.372T>A c.371T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196565T>C | CA400883000 | COG1 | c.374T>C (p.Leu125Ser) c.372T>C c.371T>C | gnomAD v4 |
| 17 | g.73196565T>G | CA400882998 | COG1 | c.374T>G (p.Leu125Ter) c.372T>G c.371T>G | |
| 17 | g.73196565T= | CA2274431953 | COG1 | c.374T= (p.Leu125=) c.372T= c.371T= | |
| 17 | g.73196566A>C | CA400883002 | COG1 | c.375A>C (p.Leu125Phe) c.373A>C c.372A>C | |
| 17 | g.73196566A>G | CA502026237 | COG1 | c.375A>G (p.Leu125=) c.373A>G c.372A>G | |
| 17 | g.73196566A>T | CA400883004 | COG1 | c.375A>T (p.Leu125Phe) c.373A>T c.372A>T | |
| 17 | g.73196567G>A | CA400883006 | COG1 | c.376G>A (p.Glu126Lys) c.374G>A c.373G>A | |
| 17 | g.73196567G>C | CA400883008 | COG1 | c.376G>C (p.Glu126Gln) c.374G>C c.373G>C | |
| 17 | g.73196567G= | CA2274431954 | COG1 | c.376G= (p.Glu126=) c.374G= c.373G= | |
| 17 | g.73196567G>T | CA400883010 | COG1 | c.376G>T (p.Glu126Ter) c.374G>T c.373G>T | dbSNP gnomAD v4 |
| 17 | g.73196568A>C | CA400883012 | COG1 | c.377A>C (p.Glu126Ala) c.375A>C c.374A>C | |
| 17 | g.73196568A>G | CA400883014 | COG1 | c.377A>G (p.Glu126Gly) c.375A>G c.374A>G | |
| 17 | g.73196568A>T | CA400883015 | COG1 | c.377A>T (p.Glu126Val) c.375A>T c.374A>T | |
| 17 | g.73196569A= | CA2274431955 | COG1 | c.378A= (p.Glu126=) c.376A= c.375A= | |
| 17 | g.73196569A>C | CA400883018 | COG1 | c.378A>C (p.Glu126Asp) c.376A>C c.375A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196569A>G | CA502026239 | COG1 | c.378A>G (p.Glu126=) c.376A>G c.375A>G | |
| 17 | g.73196569A>T | CA400883020 | COG1 | c.378A>T (p.Glu126Asp) c.376A>T c.375A>T | |
| 17 | g.73196570A>C | CA400883022 | COG1 | c.379A>C (p.Ile127Leu) c.377A>C c.376A>C | |
| 17 | g.73196570A>G | CA400883024 | COG1 | c.379A>G (p.Ile127Val) c.377A>G c.376A>G | |
| 17 | g.73196570A>T | CA400883026 | COG1 | c.379A>T (p.Ile127Phe) c.377A>T c.376A>T | |
| 17 | g.73196571T>A | CA400883034 | COG1 | c.380T>A (p.Ile127Asn) c.378T>A c.377T>A | COSMIC |
| 17 | g.73196571T>C | CA400883029 | COG1 | c.380T>C (p.Ile127Thr) c.378T>C c.377T>C | gnomAD v4 |
| 17 | g.73196571T>G | CA400883031 | COG1 | c.380T>G (p.Ile127Ser) c.378T>G c.377T>G | |
| 17 | g.73196572T>A | CA502026243 | COG1 | c.381T>A (p.Ile127=) c.379T>A c.378T>A | |
| 17 | g.73196572T>C | CA502026244 | COG1 | c.381T>C (p.Ile127=) c.379T>C c.378T>C | |
| 17 | g.73196572T>G | CA400883036 | COG1 | c.381T>G (p.Ile127Met) c.379T>G c.378T>G | |
| 17 | g.73196573C>A | CA400883039 | COG1 | c.382C>A (p.Pro128Thr) c.380C>A c.379C>A | |
| 17 | g.73196573C>G | CA400883040 | COG1 | c.382C>G (p.Pro128Ala) c.380C>G c.379C>G | |
| 17 | g.73196573C>T | CA400883042 | COG1 | c.382C>T (p.Pro128Ser) c.380C>T c.379C>T | |
| 17 | g.73196574C>A | CA400883045 | COG1 | c.383C>A (p.Pro128Gln) c.381C>A c.380C>A | |
| 17 | g.73196574C= | CA2274431956 | COG1 | c.383C= (p.Pro128=) c.381C= c.380C= | |
| 17 | g.73196574C>G | CA400883046 | COG1 | c.383C>G (p.Pro128Arg) c.381C>G c.380C>G | |
| 17 | g.73196574C>T | CA8739949 | COG1 | c.383C>T (p.Pro128Leu) c.381C>T c.380C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73196575G>A | CA8739950 | COG1 | c.384G>A (p.Pro128=) c.382G>A c.381G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196575G>C | CA502026248 | COG1 | c.384G>C (p.Pro128=) c.382G>C c.381G>C | |
| 17 | g.73196575G= | CA2274431957 | COG1 | c.384G= (p.Pro128=) c.382G= c.381G= | |
| 17 | g.73196575G>T | CA502026247 | COG1 | c.384G>T (p.Pro128=) c.382G>T c.381G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196579_73196589del | CA2639623035 | COG1 | c.388_398del (p.Lys130LeufsTer30) c.386_396del c.385_395del | gnomAD v4 |
| 17 | g.73196576G>A | CA400883052 | COG1 | c.385G>A (p.Glu129Lys) c.383G>A c.382G>A | |
| 17 | g.73196576G>C | CA400883053 | COG1 | c.385G>C (p.Glu129Gln) c.383G>C c.382G>C | |
| 17 | g.73196576G>T | CA400883056 | COG1 | c.385G>T (p.Glu129Ter) c.383G>T c.382G>T | |
| 17 | g.73196576_73196579delinsGAGA | CA2274431958 | COG1 | c.385_388delinsGAGA (p.Glu129=) c.383_386delinsGAGA c.382_385delinsGAGA | |
| 17 | g.73196577A= | CA2274431959 | COG1 | c.386A= (p.Glu129=) c.384A= c.383A= | |
| 17 | g.73196577A>C | CA400883061 | COG1 | c.386A>C (p.Glu129Ala) c.384A>C c.383A>C | |
| 17 | g.73196577A>G | CA293799357 | COG1 | c.386A>G (p.Glu129Gly) c.384A>G c.383A>G | dbSNP |
| 17 | g.73196577A>T | CA400883063 | COG1 | c.386A>T (p.Glu129Val) c.384A>T c.383A>T | |
| 17 | g.73196580_73196582del | CA8739951 | COG1 | c.389_391del (p.Lys130del) c.387_389del c.386_388del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196578G>A | CA502026251 | COG1 | c.387G>A (p.Glu129=) c.385G>A c.384G>A | dbSNP gnomAD v4 |
| 17 | g.73196578G>C | CA400883069 | COG1 | c.387G>C (p.Glu129Asp) c.385G>C c.384G>C | |
| 17 | g.73196578G= | CA2274431960 | COG1 | c.387G= (p.Glu129=) c.385G= c.384G= | |
| 17 | g.73196578G>T | CA400883066 | COG1 | c.387G>T (p.Glu129Asp) c.385G>T c.384G>T | |
| 17 | g.73196579A>C | CA400883073 | COG1 | c.388A>C (p.Lys130Gln) c.386A>C c.385A>C | |
| 17 | g.73196579A>G | CA400883072 | COG1 | c.388A>G (p.Lys130Glu) c.386A>G c.385A>G | |
| 17 | g.73196579A>T | CA400883074 | COG1 | c.388A>T (p.Lys130Ter) c.386A>T c.385A>T | |
| 17 | g.73196580A= | CA2274431961 | COG1 | c.389A= (p.Lys130=) c.387A= c.386A= | |
| 17 | g.73196580A>C | CA400883078 | COG1 | c.389A>C (p.Lys130Thr) c.387A>C c.386A>C | COSMIC |
| 17 | g.73196580A>G | CA400883083 | COG1 | c.389A>G (p.Lys130Arg) c.387A>G c.386A>G | |
| 17 | g.73196580A>T | CA400883081 | COG1 | c.389A>T (p.Lys130Met) c.387A>T c.386A>T | dbSNP |
| 17 | g.73196581G>A | CA502026252 | COG1 | c.390G>A (p.Lys130=) c.388G>A c.387G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196581G>C | CA400883086 | COG1 | c.390G>C (p.Lys130Asn) c.388G>C c.387G>C | |
| 17 | g.73196581G= | CA2274431962 | COG1 | c.390G= (p.Lys130=) c.388G= c.387G= | |
| 17 | g.73196581G>T | CA400883088 | COG1 | c.390G>T (p.Lys130Asn) c.388G>T c.387G>T | |
| 17 | g.73196582A>C | CA400883091 | COG1 | c.391A>C (p.Ile131Leu) c.389A>C c.388A>C | |
| 17 | g.73196582A>G | CA400883093 | COG1 | c.391A>G (p.Ile131Val) c.389A>G c.388A>G | |
| 17 | g.73196582A>T | CA400883095 | COG1 | c.391A>T (p.Ile131Phe) c.389A>T c.388A>T | |
| 17 | g.73196583T>A | CA8739952 | COG1 | c.392T>A (p.Ile131Asn) c.390T>A c.389T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196583T>C | CA400883098 | COG1 | c.392T>C (p.Ile131Thr) c.390T>C c.389T>C | |
| 17 | g.73196583T>G | CA400883101 | COG1 | c.392T>G (p.Ile131Ser) c.390T>G c.389T>G | |
| 17 | g.73196583T= | CA2274431963 | COG1 | c.392T= (p.Ile131=) c.390T= c.389T= | |
| 17 | g.73196584C>A | CA8739954 | COG1 | c.393C>A (p.Ile131=) c.391C>A c.390C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196584C= | CA2274431964 | COG1 | c.393C= (p.Ile131=) c.391C= c.390C= | |
| 17 | g.73196584C>G | CA400883110 | COG1 | c.393C>G (p.Ile131Met) c.391C>G c.390C>G | |
| 17 | g.73196584C>T | CA8739953 | COG1 | c.393C>T (p.Ile131=) c.391C>T c.390C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73196585T>A | CA400883116 | COG1 | c.394T>A (p.Trp132Arg) c.392T>A c.391T>A | |
| 17 | g.73196585T>C | CA8739955 | COG1 | c.394T>C (p.Trp132Arg) c.392T>C c.391T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196585T>G | CA400883115 | COG1 | c.394T>G (p.Trp132Gly) c.392T>G c.391T>G | |
| 17 | g.73196585T= | CA2274431965 | COG1 | c.394T= (p.Trp132=) c.392T= c.391T= | |
| 17 | g.73196586G>A | CA400883118 | COG1 | c.395G>A (p.Trp132Ter) c.393G>A c.392G>A | dbSNP gnomAD v4 |
| 17 | g.73196586G>C | CA400883119 | COG1 | c.395G>C (p.Trp132Ser) c.393G>C c.392G>C | gnomAD v4 |
| 17 | g.73196586G= | CA2274431966 | COG1 | c.395G= (p.Trp132=) c.393G= c.392G= | |
| 17 | g.73196586G>T | CA400883121 | COG1 | c.395G>T (p.Trp132Leu) c.393G>T c.392G>T | |
| 17 | g.73196587G>A | CA400883123 | COG1 | c.396G>A (p.Trp132Ter) c.394G>A c.393G>A | |
| 17 | g.73196587G>C | CA293799375 | COG1 | c.396G>C (p.Trp132Cys) c.394G>C c.393G>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196587G= | CA2274431967 | COG1 | c.396G= (p.Trp132=) c.394G= c.393G= | |
| 17 | g.73196587G>T | CA400883129 | COG1 | c.396G>T (p.Trp132Cys) c.394G>T c.393G>T | |
| 17 | g.73196588A= | CA2274431968 | COG1 | c.397A= (p.Ser133=) c.395A= c.394A= | |
| 17 | g.73196588A>C | CA400883130 | COG1 | c.397A>C (p.Ser133Arg) c.395A>C c.394A>C | |
| 17 | g.73196588A>G | CA400883131 | COG1 | c.397A>G (p.Ser133Gly) c.395A>G c.394A>G | dbSNP |
| 17 | g.73196588A>T | CA400883132 | COG1 | c.397A>T (p.Ser133Cys) c.395A>T c.394A>T | gnomAD v4 |
| 17 | g.73196589G>A | CA400883134 | COG1 | c.398G>A (p.Ser133Asn) c.396G>A c.395G>A | |
| 17 | g.73196589G>C | CA400883135 | COG1 | c.398G>C (p.Ser133Thr) c.396G>C c.395G>C | |
| 17 | g.73196589G>T | CA400883137 | COG1 | c.398G>T (p.Ser133Ile) c.396G>T c.395G>T | |
| 17 | g.73196590C>A | CA400883141 | COG1 | c.399C>A (p.Ser133Arg) c.397C>A c.396C>A | |
| 17 | g.73196590C>G | CA400883144 | COG1 | c.399C>G (p.Ser133Arg) c.397C>G c.396C>G | |
| 17 | g.73196590C>T | CA502026258 | COG1 | c.399C>T (p.Ser133=) c.397C>T c.396C>T | |
| 17 | g.73196591T>A | CA400883145 | COG1 | c.400T>A (p.Ser134Thr) c.398T>A c.397T>A | gnomAD v4 |
| 17 | g.73196591T>C | CA400883146 | COG1 | c.400T>C (p.Ser134Pro) c.398T>C c.397T>C | |
| 17 | g.73196591T>G | CA400883147 | COG1 | c.400T>G (p.Ser134Ala) c.398T>G c.397T>G | |
| 17 | g.73196592C>A | CA400883149 | COG1 | c.401C>A (p.Ser134Ter) c.399C>A c.398C>A | |
| 17 | g.73196592C= | CA2274431969 | COG1 | c.401C= (p.Ser134=) c.399C= c.398C= | |
| 17 | g.73196592C>G | CA400883158 | COG1 | c.401C>G (p.Ser134Trp) c.399C>G c.398C>G | |
| 17 | g.73196592C>T | CA149039 | COG1 | c.401C>T (p.Ser134Leu) c.399C>T c.398C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196593G>A | CA8739956 | COG1 | c.402G>A (p.Ser134=) c.400G>A c.399G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196593G>C | CA502026259 | COG1 | c.402G>C (p.Ser134=) c.400G>C c.399G>C | |
| 17 | g.73196593G= | CA2274431970 | COG1 | c.402G= (p.Ser134=) c.400G= c.399G= | |
| 17 | g.73196593G>T | CA502026260 | COG1 | c.402G>T (p.Ser134=) c.400G>T c.399G>T | |
| 17 | g.73196594A= | CA2274431971 | COG1 | c.403A= (p.Met135=) c.401A= c.400A= | |
| 17 | g.73196594A>C | CA400883168 | COG1 | c.403A>C (p.Met135Leu) c.401A>C c.400A>C | |
| 17 | g.73196594A>G | CA400883175 | COG1 | c.403A>G (p.Met135Val) c.401A>G c.400A>G | |
| 17 | g.73196594A>T | CA8739957 | COG1 | c.403A>T (p.Met135Leu) c.401A>T c.400A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196595T>A | CA400883176 | COG1 | c.404T>A (p.Met135Lys) c.402T>A c.401T>A | |
| 17 | g.73196595T>C | CA8739958 | COG1 | c.404T>C (p.Met135Thr) c.402T>C c.401T>C | dbSNP ExAC gnomAD v4 |
| 17 | g.73196595T>G | CA400883178 | COG1 | c.404T>G (p.Met135Arg) c.402T>G c.401T>G | |
| 17 | g.73196595T= | CA2274431972 | COG1 | c.404T= (p.Met135=) c.402T= c.401T= | |
| 17 | g.73196596G>A | CA400883188 | COG1 | c.405G>A (p.Met135Ile) c.403G>A c.402G>A | |
| 17 | g.73196596G>C | CA400883181 | COG1 | c.405G>C (p.Met135Ile) c.403G>C c.402G>C | |
| 17 | g.73196596G>T | CA400883184 | COG1 | c.405G>T (p.Met135Ile) c.403G>T c.402G>T | |
| 17 | g.73196597G>A | CA400883190 | COG1 | c.406G>A (p.Glu136Lys) c.404G>A c.403G>A | |
| 17 | g.73196597G>C | CA400883193 | COG1 | c.406G>C (p.Glu136Gln) c.404G>C c.403G>C | |
| 17 | g.73196597G>T | CA400883194 | COG1 | c.406G>T (p.Glu136Ter) c.404G>T c.403G>T | |
| 17 | g.73196598A>C | CA400883197 | COG1 | c.407A>C (p.Glu136Ala) c.405A>C c.404A>C | |
| 17 | g.73196598A>G | CA400883200 | COG1 | c.407A>G (p.Glu136Gly) c.405A>G c.404A>G | |
| 17 | g.73196598A>T | CA400883203 | COG1 | c.407A>T (p.Glu136Val) c.405A>T c.404A>T | |
| 17 | g.73196599A>C | CA400883204 | COG1 | c.408A>C (p.Glu136Asp) c.406A>C c.405A>C | |
| 17 | g.73196599A>G | CA502026261 | COG1 | c.408A>G (p.Glu136=) c.406A>G c.405A>G | |
| 17 | g.73196599A>T | CA400883207 | COG1 | c.408A>T (p.Glu136Asp) c.406A>T c.405A>T | |
| 17 | g.73196600G>A | CA400883208 | COG1 | c.409G>A (p.Ala137Thr) c.407G>A c.406G>A | |
| 17 | g.73196600G>C | CA400883210 | COG1 | c.409G>C (p.Ala137Pro) c.407G>C c.406G>C | |
| 17 | g.73196600G>T | CA400883213 | COG1 | c.409G>T (p.Ala137Ser) c.407G>T c.406G>T | |
| 17 | g.73196601C>A | CA400883220 | COG1 | c.410C>A (p.Ala137Asp) c.408C>A c.407C>A | |
| 17 | g.73196601C>G | CA400883219 | COG1 | c.410C>G (p.Ala137Gly) c.408C>G c.407C>G | |
| 17 | g.73196601C>T | CA400883217 | COG1 | c.410C>T (p.Ala137Val) c.408C>T c.407C>T | |
| 17 | g.73196602C>A | CA502026262 | COG1 | c.411C>A (p.Ala137=) c.409C>A c.408C>A | |
| 17 | g.73196602C>G | CA502026263 | COG1 | c.411C>G (p.Ala137=) c.409C>G c.408C>G | |
| 17 | g.73196602C>T | CA502026264 | COG1 | c.411C>T (p.Ala137=) c.409C>T c.408C>T | |
| 17 | g.73196603T>A | CA400883221 | COG1 | c.412T>A (p.Ser138Thr) c.410T>A c.409T>A | |
| 17 | g.73196603T>C | CA400883224 | COG1 | c.412T>C (p.Ser138Pro) c.410T>C c.409T>C | |
| 17 | g.73196603T>G | CA400883222 | COG1 | c.412T>G (p.Ser138Ala) c.410T>G c.409T>G | |
| 17 | g.73196604C>A | CA400883227 | COG1 | c.413C>A (p.Ser138Tyr) c.411C>A c.410C>A | |
| 17 | g.73196604C>G | CA400883231 | COG1 | c.413C>G (p.Ser138Cys) c.411C>G c.410C>G | |
| 17 | g.73196604C>T | CA400883232 | COG1 | c.413C>T (p.Ser138Phe) c.411C>T c.410C>T | gnomAD v4 |
| 17 | g.73196605T>A | CA502026265 | COG1 | c.414T>A (p.Ser138=) c.412T>A c.411T>A | |
| 17 | g.73196605T>C | CA502026266 | COG1 | c.414T>C (p.Ser138=) c.412T>C c.411T>C | |
| 17 | g.73196605T>G | CA8739959 | COG1 | c.414T>G (p.Ser138=) c.412T>G c.411T>G | dbSNP ExAC gnomAD v2 |
| 17 | g.73196605T= | CA2274431973 | COG1 | c.414T= (p.Ser138=) c.412T= c.411T= | |
| 17 | g.73196606C>A | CA400883235 | COG1 | c.415C>A (p.Gln139Lys) c.413C>A c.412C>A | gnomAD v4 |
| 17 | g.73196606C>G | CA400883236 | COG1 | c.415C>G (p.Gln139Glu) c.413C>G c.412C>G | COSMIC |
| 17 | g.73196606C>T | CA400883238 | COG1 | c.415C>T (p.Gln139Ter) c.413C>T c.412C>T | |
| 17 | g.73196606_73196607del | CA502026267 | COG1 | c.415_416del (p.Gln139ValfsTer24) c.413_414del c.412_413del | gnomAD v4 |
| 17 | g.73196607A= | CA2274431974 | COG1 | c.416A= (p.Gln139=) c.414A= c.413A= | |
| 17 | g.73196607A>C | CA400883241 | COG1 | c.416A>C (p.Gln139Pro) c.414A>C c.413A>C | |
| 17 | g.73196607A>G | CA8739960 | COG1 | c.416A>G (p.Gln139Arg) c.414A>G c.413A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196607A>T | CA400883246 | COG1 | c.416A>T (p.Gln139Leu) c.414A>T c.413A>T | |
| 17 | g.73196608G>A | CA502026268 | COG1 | c.417G>A (p.Gln139=) c.415G>A c.414G>A | |
| 17 | g.73196608G>C | CA400883249 | COG1 | c.417G>C (p.Gln139His) c.415G>C c.414G>C | |
| 17 | g.73196608G>T | CA400883250 | COG1 | c.417G>T (p.Gln139His) c.415G>T c.414G>T | |
| 17 | g.73196609T>A | CA400883253 | COG1 | c.418T>A (p.Cys140Ser) c.416T>A c.415T>A | |
| 17 | g.73196609T>C | CA400883251 | COG1 | c.418T>C (p.Cys140Arg) c.416T>C c.415T>C | |
| 17 | g.73196609T>G | CA400883252 | COG1 | c.418T>G (p.Cys140Gly) c.416T>G c.415T>G | gnomAD v4 |
| 17 | g.73196610G>A | CA400883255 | COG1 | c.419G>A (p.Cys140Tyr) c.417G>A c.416G>A | |
| 17 | g.73196610G>C | CA400883256 | COG1 | c.419G>C (p.Cys140Ser) c.417G>C c.416G>C | dbSNP |
| 17 | g.73196610G= | CA2274431975 | COG1 | c.419G= (p.Cys140=) c.417G= c.416G= | |
| 17 | g.73196610G>T | CA400883257 | COG1 | c.419G>T (p.Cys140Phe) c.417G>T c.416G>T | |
| 17 | g.73196611T>A | CA400883260 | COG1 | c.420T>A (p.Cys140Ter) c.418T>A c.417T>A | |
| 17 | g.73196611T>C | CA502026269 | COG1 | c.420T>C (p.Cys140=) c.418T>C c.417T>C | |
| 17 | g.73196611T>G | CA400883266 | COG1 | c.420T>G (p.Cys140Trp) c.418T>G c.417T>G | |
| 17 | g.73196612C>A | CA400883268 | COG1 | c.421C>A (p.Leu141Ile) c.419C>A c.418C>A | |
| 17 | g.73196612C>G | CA400883271 | COG1 | c.421C>G (p.Leu141Val) c.419C>G c.418C>G | |
| 17 | g.73196612C>T | CA400883278 | COG1 | c.421C>T (p.Leu141Phe) c.419C>T c.418C>T | |
| 17 | g.73196613T>A | CA400883280 | COG1 | c.422T>A (p.Leu141His) c.420T>A c.419T>A | |
| 17 | g.73196613T>C | CA400883282 | COG1 | c.422T>C (p.Leu141Pro) c.420T>C c.419T>C | |
| 17 | g.73196613T>G | CA400883284 | COG1 | c.422T>G (p.Leu141Arg) c.420T>G c.419T>G | |
| 17 | g.73196614C>A | CA502026270 | COG1 | c.423C>A (p.Leu141=) c.421C>A c.420C>A | |
| 17 | g.73196614C= | CA2274431976 | COG1 | c.423C= (p.Leu141=) c.421C= c.420C= | |
| 17 | g.73196614C>G | CA502026271 | COG1 | c.423C>G (p.Leu141=) c.421C>G c.420C>G | ClinVar gnomAD v4 |
| 17 | g.73196614C>T | CA8739961 | COG1 | c.423C>T (p.Leu141=) c.421C>T c.420C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196615C>A | CA400883289 | COG1 | c.424C>A (p.His142Asn) c.422C>A c.421C>A | |
| 17 | g.73196615C>G | CA400883286 | COG1 | c.424C>G (p.His142Asp) c.422C>G c.421C>G | |
| 17 | g.73196615C>T | CA400883288 | COG1 | c.424C>T (p.His142Tyr) c.422C>T c.421C>T | gnomAD v4 |
| 17 | g.73196616A= | CA2274431977 | COG1 | c.425A= (p.His142=) c.423A= c.422A= | |
| 17 | g.73196616A>C | CA400883293 | COG1 | c.425A>C (p.His142Pro) c.423A>C c.422A>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196616A>G | CA400883296 | COG1 | c.425A>G (p.His142Arg) c.423A>G c.422A>G | |
| 17 | g.73196616A>T | CA400883299 | COG1 | c.425A>T (p.His142Leu) c.423A>T c.422A>T | |
| 17 | g.73196616_73196617delinsAC | CA2274431978 | COG1 | c.425_426delinsAC (p.His142=) c.423_424delinsAC c.422_423delinsAC | |
| 17 | g.73196617del | CA627590154 | COG1 | c.426del (p.His142GlnfsTer?) c.424del c.423del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196617C>A | CA400883303 | COG1 | c.426C>A (p.His142Gln) c.424C>A c.423C>A | |
| 17 | g.73196617C= | CA2274431979 | COG1 | c.426C= (p.His142=) c.424C= c.423C= | |
| 17 | g.73196617C>G | CA400883301 | COG1 | c.426C>G (p.His142Gln) c.424C>G c.423C>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196617C>T | CA8739962 | COG1 | c.426C>T (p.His142=) c.424C>T c.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196618G>A | CA8739963 | COG1 | c.427G>A (p.Ala143Thr) c.425G>A c.424G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196618G>C | CA400883305 | COG1 | c.427G>C (p.Ala143Pro) c.425G>C c.424G>C | |
| 17 | g.73196618G= | CA2274431980 | COG1 | c.427G= (p.Ala143=) c.425G= c.424G= | |
| 17 | g.73196618G>T | CA400883307 | COG1 | c.427G>T (p.Ala143Ser) c.425G>T c.424G>T | gnomAD v4 |
| 17 | g.73196619C>A | CA400883308 | COG1 | c.428C>A (p.Ala143Asp) c.426C>A c.425C>A | |
| 17 | g.73196619C>G | CA400883310 | COG1 | c.428C>G (p.Ala143Gly) c.426C>G c.425C>G | |
| 17 | g.73196619C>T | CA400883312 | COG1 | c.428C>T (p.Ala143Val) c.426C>T c.425C>T | gnomAD v4 |
| 17 | g.73196620C>A | CA502026274 | COG1 | c.429C>A (p.Ala143=) c.427C>A c.426C>A | |
| 17 | g.73196620C>G | CA502026273 | COG1 | c.429C>G (p.Ala143=) c.427C>G c.426C>G | |
| 17 | g.73196620C>T | CA502026272 | COG1 | c.429C>T (p.Ala143=) c.427C>T c.426C>T | |
| 17 | g.73196624_73196625del | CA2639623133 | COG1 | c.433_434del (p.Gln145AlafsTer18) c.431_432del c.430_431del | gnomAD v4 |
| 17 | g.73196621A>C | CA400883314 | COG1 | c.430A>C (p.Thr144Pro) c.428A>C c.427A>C | |
| 17 | g.73196621A>G | CA400883318 | COG1 | c.430A>G (p.Thr144Ala) c.428A>G c.427A>G | |
| 17 | g.73196621A>T | CA400883316 | COG1 | c.430A>T (p.Thr144Ser) c.428A>T c.427A>T | |
| 17 | g.73196622C>A | CA400883319 | COG1 | c.431C>A (p.Thr144Lys) c.429C>A c.428C>A | gnomAD v4 |
| 17 | g.73196622C= | CA2274431981 | COG1 | c.431C= (p.Thr144=) c.429C= c.428C= | |
| 17 | g.73196622C>G | CA400883321 | COG1 | c.431C>G (p.Thr144Arg) c.429C>G c.428C>G | |
| 17 | g.73196622C>T | CA400883327 | COG1 | c.431C>T (p.Thr144Ile) c.429C>T c.428C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196623A= | CA2274431982 | COG1 | c.432A= (p.Thr144=) c.430A= c.429A= | |
| 17 | g.73196623A>C | CA502026275 | COG1 | c.432A>C (p.Thr144=) c.430A>C c.429A>C | |
| 17 | g.73196623A>G | CA502026276 | COG1 | c.432A>G (p.Thr144=) c.430A>G c.429A>G | |
| 17 | g.73196623A>T | CA502026277 | COG1 | c.432A>T (p.Thr144=) c.430A>T c.429A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196624C>A | CA400883330 | COG1 | c.433C>A (p.Gln145Lys) c.431C>A c.430C>A | |
| 17 | g.73196624C>G | CA400883331 | COG1 | c.433C>G (p.Gln145Glu) c.431C>G c.430C>G | |
| 17 | g.73196624C>T | CA400883333 | COG1 | c.433C>T (p.Gln145Ter) c.431C>T c.430C>T | COSMIC |
| 17 | g.73196625A>C | CA400883336 | COG1 | c.434A>C (p.Gln145Pro) c.432A>C c.431A>C | |
| 17 | g.73196625A>G | CA400883338 | COG1 | c.434A>G (p.Gln145Arg) c.432A>G c.431A>G | |
| 17 | g.73196625A>T | CA400883340 | COG1 | c.434A>T (p.Gln145Leu) c.432A>T c.431A>T | |
| 17 | g.73196626G>A | CA502026278 | COG1 | c.435G>A (p.Gln145=) c.433G>A c.432G>A | |
| 17 | g.73196626G>C | CA400883341 | COG1 | c.435G>C (p.Gln145His) c.433G>C c.432G>C | |
| 17 | g.73196626G>T | CA400883342 | COG1 | c.435G>T (p.Gln145His) c.433G>T c.432G>T | |
| 17 | g.73196627C>A | CA400883345 | COG1 | c.436C>A (p.Leu146Ile) c.434C>A c.433C>A | |
| 17 | g.73196627C= | CA2274431983 | COG1 | c.436C= (p.Leu146=) c.434C= c.433C= | |
| 17 | g.73196627C>G | CA400883348 | COG1 | c.436C>G (p.Leu146Val) c.434C>G c.433C>G | gnomAD v4 |
| 17 | g.73196627C>T | CA400883344 | COG1 | c.436C>T (p.Leu146Phe) c.434C>T c.433C>T | dbSNP gnomAD v4 |
| 17 | g.73196628T>A | CA400883353 | COG1 | c.437T>A (p.Leu146His) c.435T>A c.434T>A | |
| 17 | g.73196628T>C | CA400883350 | COG1 | c.437T>C (p.Leu146Pro) c.435T>C c.434T>C | |
| 17 | g.73196628T>G | CA400883351 | COG1 | c.437T>G (p.Leu146Arg) c.435T>G c.434T>G | |
| 17 | g.73196629C>A | CA502026279 | COG1 | c.438C>A (p.Leu146=) c.436C>A c.435C>A | |
| 17 | g.73196629C= | CA2274431984 | COG1 | c.438C= (p.Leu146=) c.436C= c.435C= | |
| 17 | g.73196629C>G | CA502026280 | COG1 | c.438C>G (p.Leu146=) c.436C>G c.435C>G | dbSNP |
| 17 | g.73196629C>T | CA502026281 | COG1 | c.438C>T (p.Leu146=) c.436C>T c.435C>T | |
| 17 | g.73196630T>A | CA400883354 | COG1 | c.439T>A (p.Tyr147Asn) c.437T>A c.436T>A | |
| 17 | g.73196630T>C | CA400883355 | COG1 | c.439T>C (p.Tyr147His) c.437T>C c.436T>C | |
| 17 | g.73196630T>G | CA400883357 | COG1 | c.439T>G (p.Tyr147Asp) c.437T>G c.436T>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196630T= | CA2274431985 | COG1 | c.439T= (p.Tyr147=) c.437T= c.436T= | |
| 17 | g.73196631A= | CA2274431986 | COG1 | c.440A= (p.Tyr147=) c.438A= c.437A= | |
| 17 | g.73196631A>C | CA400883358 | COG1 | c.440A>C (p.Tyr147Ser) c.438A>C c.437A>C | dbSNP |
| 17 | g.73196631A>G | CA400883360 | COG1 | c.440A>G (p.Tyr147Cys) c.438A>G c.437A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196631A>T | CA400883362 | COG1 | c.440A>T (p.Tyr147Phe) c.438A>T c.437A>T | |
| 17 | g.73196632C>A | CA400883364 | COG1 | c.441C>A (p.Tyr147Ter) c.439C>A c.438C>A | dbSNP |
| 17 | g.73196632C= | CA2274431987 | COG1 | c.441C= (p.Tyr147=) c.439C= c.438C= | |
| 17 | g.73196632C>G | CA400883366 | COG1 | c.441C>G (p.Tyr147Ter) c.439C>G c.438C>G | |
| 17 | g.73196632C>T | CA502026282 | COG1 | c.441C>T (p.Tyr147=) c.439C>T c.438C>T | |
| 17 | g.73196633C>A | CA400883369 | COG1 | c.442C>A (p.Leu148Met) c.440C>A c.439C>A | |
| 17 | g.73196633C>G | CA400883371 | COG1 | c.442C>G (p.Leu148Val) c.440C>G c.439C>G | |
| 17 | g.73196633C>T | CA502026283 | COG1 | c.442C>T (p.Leu148=) c.440C>T c.439C>T | gnomAD v4 |
| 17 | g.73196634T>A | CA400883373 | COG1 | c.443T>A (p.Leu148Gln) c.441T>A c.440T>A | |
| 17 | g.73196634T>C | CA400883374 | COG1 | c.443T>C (p.Leu148Pro) c.441T>C c.440T>C | |
| 17 | g.73196634T>G | CA400883376 | COG1 | c.443T>G (p.Leu148Arg) c.441T>G c.440T>G | |
| 17 | g.73196635G>A | CA502026286 | COG1 | c.444G>A (p.Leu148=) c.442G>A c.441G>A | |
| 17 | g.73196635G>C | CA502026285 | COG1 | c.444G>C (p.Leu148=) c.442G>C c.441G>C | |
| 17 | g.73196635G>T | CA502026284 | COG1 | c.444G>T (p.Leu148=) c.442G>T c.441G>T |