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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49611271G>A | CA469791694 | CHAT,SLC18A3 | c.531G>A (p.Thr177=) c.-69+2072G>A (n.-69+2072G>A) | gnomAD v4 COSMIC |
| 10 | g.49611271G>C | CA469791701 | CHAT,SLC18A3 | c.531G>C (p.Thr177=) c.-69+2072G>C (n.-69+2072G>C) | gnomAD v4 |
| 10 | g.49611271G= | CA1908793241 | CHAT,SLC18A3 | c.531G= (p.Thr177=) c.-69+2072G= (n.-69+2072G=) | |
| 10 | g.49611271G>T | CA469791700 | CHAT,SLC18A3 | c.531G>T (p.Thr177=) c.-69+2072G>T (n.-69+2072G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611272C>A | CA376719178 | CHAT,SLC18A3 | c.532C>A (p.Leu178Met) c.-69+2073C>A (n.-69+2073C>A) | |
| 10 | g.49611272C>G | CA376719181 | CHAT,SLC18A3 | c.532C>G (p.Leu178Val) c.-69+2073C>G (n.-69+2073C>G) | |
| 10 | g.49611272C>T | CA469791704 | CHAT,SLC18A3 | c.532C>T (p.Leu178=) c.-69+2073C>T (n.-69+2073C>T) | |
| 10 | g.49611273T>A | CA376719186 | CHAT,SLC18A3 | c.533T>A (p.Leu178Gln) c.-69+2074T>A (n.-69+2074T>A) | |
| 10 | g.49611273T>C | CA376719189 | CHAT,SLC18A3 | c.533T>C (p.Leu178Pro) c.-69+2074T>C (n.-69+2074T>C) | |
| 10 | g.49611273T>G | CA376719190 | CHAT,SLC18A3 | c.533T>G (p.Leu178Arg) c.-69+2074T>G (n.-69+2074T>G) | |
| 10 | g.49611274G>A | CA5496782 | CHAT,SLC18A3 | c.534G>A (p.Leu178=) c.-69+2075G>A (n.-69+2075G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611274G>C | CA469791709 | CHAT,SLC18A3 | c.534G>C (p.Leu178=) c.-69+2075G>C (n.-69+2075G>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611274G= | CA1908793243 | CHAT,SLC18A3 | c.534G= (p.Leu178=) c.-69+2075G= (n.-69+2075G=) | |
| 10 | g.49611274G>T | CA469791712 | CHAT,SLC18A3 | c.534G>T (p.Leu178=) c.-69+2075G>T (n.-69+2075G>T) | |
| 10 | g.49611275T>A | CA376719196 | CHAT,SLC18A3 | c.535T>A (p.Phe179Ile) c.-69+2076T>A (n.-69+2076T>A) | |
| 10 | g.49611275T>C | CA376719199 | CHAT,SLC18A3 | c.535T>C (p.Phe179Leu) c.-69+2076T>C (n.-69+2076T>C) | |
| 10 | g.49611275T>G | CA376719202 | CHAT,SLC18A3 | c.535T>G (p.Phe179Val) c.-69+2076T>G (n.-69+2076T>G) | |
| 10 | g.49611276T>A | CA376719207 | CHAT,SLC18A3 | c.536T>A (p.Phe179Tyr) c.-69+2077T>A (n.-69+2077T>A) | |
| 10 | g.49611276T>C | CA376719213 | CHAT,SLC18A3 | c.536T>C (p.Phe179Ser) c.-69+2077T>C (n.-69+2077T>C) | |
| 10 | g.49611276T>G | CA376719209 | CHAT,SLC18A3 | c.536T>G (p.Phe179Cys) c.-69+2077T>G (n.-69+2077T>G) | |
| 10 | g.49611277C>A | CA376719216 | CHAT,SLC18A3 | c.537C>A (p.Phe179Leu) c.-69+2078C>A (n.-69+2078C>A) | gnomAD v4 |
| 10 | g.49611277C>G | CA376719218 | CHAT,SLC18A3 | c.537C>G (p.Phe179Leu) c.-69+2078C>G (n.-69+2078C>G) | |
| 10 | g.49611277C>T | CA469791723 | CHAT,SLC18A3 | c.537C>T (p.Phe179=) c.-69+2078C>T (n.-69+2078C>T) | gnomAD v4 COSMIC |
| 10 | g.49611278G>A | CA376719223 | CHAT,SLC18A3 | c.538G>A (p.Ala180Thr) c.-69+2079G>A (n.-69+2079G>A) | |
| 10 | g.49611278G>C | CA376719225 | CHAT,SLC18A3 | c.538G>C (p.Ala180Pro) c.-69+2079G>C (n.-69+2079G>C) | |
| 10 | g.49611278G>T | CA376719227 | CHAT,SLC18A3 | c.538G>T (p.Ala180Ser) c.-69+2079G>T (n.-69+2079G>T) | gnomAD v4 |
| 10 | g.49611279C>A | CA376719231 | CHAT,SLC18A3 | c.539C>A (p.Ala180Glu) c.-69+2080C>A (n.-69+2080C>A) | |
| 10 | g.49611279C= | CA1908793252 | CHAT,SLC18A3 | c.539C= (p.Ala180=) c.-69+2080C= (n.-69+2080C=) | |
| 10 | g.49611279C>G | CA5496783 | CHAT,SLC18A3 | c.539C>G (p.Ala180Gly) c.-69+2080C>G (n.-69+2080C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611279C>T | CA376719235 | CHAT,SLC18A3 | c.539C>T (p.Ala180Val) c.-69+2080C>T (n.-69+2080C>T) | COSMIC |
| 10 | g.49611280G>A | CA469791730 | CHAT,SLC18A3 | c.540G>A (p.Ala180=) c.-69+2081G>A (n.-69+2081G>A) | |
| 10 | g.49611280G>C | CA5496784 | CHAT,SLC18A3 | c.540G>C (p.Ala180=) c.-69+2081G>C (n.-69+2081G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611280G= | CA1908793255 | CHAT,SLC18A3 | c.540G= (p.Ala180=) c.-69+2081G= (n.-69+2081G=) | |
| 10 | g.49611280G>T | CA469791732 | CHAT,SLC18A3 | c.540G>T (p.Ala180=) c.-69+2081G>T (n.-69+2081G>T) | gnomAD v4 |
| 10 | g.49611281G>A | CA376719246 | CHAT,SLC18A3 | c.541G>A (p.Ala181Thr) c.-69+2082G>A (n.-69+2082G>A) | |
| 10 | g.49611281G>C | CA376719244 | CHAT,SLC18A3 | c.541G>C (p.Ala181Pro) c.-69+2082G>C (n.-69+2082G>C) | |
| 10 | g.49611281G>T | CA376719241 | CHAT,SLC18A3 | c.541G>T (p.Ala181Ser) c.-69+2082G>T (n.-69+2082G>T) | gnomAD v4 |
| 10 | g.49611282C>A | CA376719249 | CHAT,SLC18A3 | c.542C>A (p.Ala181Glu) c.-69+2083C>A (n.-69+2083C>A) | gnomAD v4 |
| 10 | g.49611282C>G | CA376719251 | CHAT,SLC18A3 | c.542C>G (p.Ala181Gly) c.-69+2083C>G (n.-69+2083C>G) | |
| 10 | g.49611282C>T | CA376719257 | CHAT,SLC18A3 | c.542C>T (p.Ala181Val) c.-69+2083C>T (n.-69+2083C>T) | gnomAD v4 |
| 10 | g.49611283G>A | CA469791739 | CHAT,SLC18A3 | c.543G>A (p.Ala181=) c.-69+2084G>A (n.-69+2084G>A) | gnomAD v4 |
| 10 | g.49611283G>C | CA469791741 | CHAT,SLC18A3 | c.543G>C (p.Ala181=) c.-69+2084G>C (n.-69+2084G>C) | |
| 10 | g.49611283G= | CA1908793259 | CHAT,SLC18A3 | c.543G= (p.Ala181=) c.-69+2084G= (n.-69+2084G=) | |
| 10 | g.49611283G>T | CA5496785 | CHAT,SLC18A3 | c.543G>T (p.Ala181=) c.-69+2084G>T (n.-69+2084G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611284C>A | CA376719263 | CHAT,SLC18A3 | c.544C>A (p.Arg182Ser) c.-69+2085C>A (n.-69+2085C>A) | gnomAD v4 |
| 10 | g.49611284C>G | CA376719266 | CHAT,SLC18A3 | c.544C>G (p.Arg182Gly) c.-69+2085C>G (n.-69+2085C>G) | |
| 10 | g.49611284C>T | CA376719268 | CHAT,SLC18A3 | c.544C>T (p.Arg182Cys) c.-69+2085C>T (n.-69+2085C>T) | gnomAD v4 COSMIC |
| 10 | g.49611285G>A | CA376719273 | CHAT,SLC18A3 | c.545G>A (p.Arg182His) c.-69+2086G>A (n.-69+2086G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611285G>C | CA376719274 | CHAT,SLC18A3 | c.545G>C (p.Arg182Pro) c.-69+2086G>C (n.-69+2086G>C) | |
| 10 | g.49611285G= | CA1908793260 | CHAT,SLC18A3 | c.545G= (p.Arg182=) c.-69+2086G= (n.-69+2086G=) | |
| 10 | g.49611285G>T | CA376719278 | CHAT,SLC18A3 | c.545G>T (p.Arg182Leu) c.-69+2086G>T (n.-69+2086G>T) | gnomAD v4 |
| 10 | g.49611286C>A | CA469791748 | CHAT,SLC18A3 | c.546C>A (p.Arg182=) c.-69+2087C>A (n.-69+2087C>A) | |
| 10 | g.49611286C>G | CA469791750 | CHAT,SLC18A3 | c.546C>G (p.Arg182=) c.-69+2087C>G (n.-69+2087C>G) | |
| 10 | g.49611286C>T | CA469791747 | CHAT,SLC18A3 | c.546C>T (p.Arg182=) c.-69+2087C>T (n.-69+2087C>T) | gnomAD v4 |
| 10 | g.49611287A= | CA1908793263 | CHAT,SLC18A3 | c.547A= (p.Ser183=) c.-69+2088A= (n.-69+2088A=) | |
| 10 | g.49611287A>C | CA376719281 | CHAT,SLC18A3 | c.547A>C (p.Ser183Arg) c.-69+2088A>C (n.-69+2088A>C) | |
| 10 | g.49611287A>G | CA376719284 | CHAT,SLC18A3 | c.547A>G (p.Ser183Gly) c.-69+2088A>G (n.-69+2088A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611287A>T | CA376719286 | CHAT,SLC18A3 | c.547A>T (p.Ser183Cys) c.-69+2088A>T (n.-69+2088A>T) | |
| 10 | g.49611288G>A | CA376719290 | CHAT,SLC18A3 | c.548G>A (p.Ser183Asn) c.-69+2089G>A (n.-69+2089G>A) | |
| 10 | g.49611288G>C | CA376719297 | CHAT,SLC18A3 | c.548G>C (p.Ser183Thr) c.-69+2089G>C (n.-69+2089G>C) | |
| 10 | g.49611288G>T | CA376719294 | CHAT,SLC18A3 | c.548G>T (p.Ser183Ile) c.-69+2089G>T (n.-69+2089G>T) | gnomAD v4 |
| 10 | g.49611289C>A | CA376719299 | CHAT,SLC18A3 | c.549C>A (p.Ser183Arg) c.-69+2090C>A (n.-69+2090C>A) | |
| 10 | g.49611289C= | CA1908793268 | CHAT,SLC18A3 | c.549C= (p.Ser183=) c.-69+2090C= (n.-69+2090C=) | |
| 10 | g.49611289C>G | CA376719302 | CHAT,SLC18A3 | c.549C>G (p.Ser183Arg) c.-69+2090C>G (n.-69+2090C>G) | |
| 10 | g.49611289C>T | CA5496786 | CHAT,SLC18A3 | c.549C>T (p.Ser183=) c.-69+2090C>T (n.-69+2090C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611290del | CA2574545084 | CHAT,SLC18A3 | c.550del (p.Leu184CysfsTer14) c.-69+2091del (n.-69+2091del) | |
| 10 | g.49611290C>A | CA376719308 | CHAT,SLC18A3 | c.550C>A (p.Leu184Met) c.-69+2091C>A (n.-69+2091C>A) | |
| 10 | g.49611290C>G | CA376719310 | CHAT,SLC18A3 | c.550C>G (p.Leu184Val) c.-69+2091C>G (n.-69+2091C>G) | |
| 10 | g.49611290C>T | CA469791264 | CHAT,SLC18A3 | c.550C>T (p.Leu184=) c.-69+2091C>T (n.-69+2091C>T) | |
| 10 | g.49611291T>A | CA376719314 | CHAT,SLC18A3 | c.551T>A (p.Leu184Gln) c.-69+2092T>A (n.-69+2092T>A) | |
| 10 | g.49611291T>C | CA376719316 | CHAT,SLC18A3 | c.551T>C (p.Leu184Pro) c.-69+2092T>C (n.-69+2092T>C) | gnomAD v4 |
| 10 | g.49611291T>G | CA5496787 | CHAT,SLC18A3 | c.551T>G (p.Leu184Arg) c.-69+2092T>G (n.-69+2092T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611291T= | CA1908793273 | CHAT,SLC18A3 | c.551T= (p.Leu184=) c.-69+2092T= (n.-69+2092T=) | |
| 10 | g.49611292G>A | CA469791268 | CHAT,SLC18A3 | c.552G>A (p.Leu184=) c.-69+2093G>A (n.-69+2093G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611292G>C | CA469791270 | CHAT,SLC18A3 | c.552G>C (p.Leu184=) c.-69+2093G>C (n.-69+2093G>C) | |
| 10 | g.49611292G= | CA1908793277 | CHAT,SLC18A3 | c.552G= (p.Leu184=) c.-69+2093G= (n.-69+2093G=) | |
| 10 | g.49611292G>T | CA469791269 | CHAT,SLC18A3 | c.552G>T (p.Leu184=) c.-69+2093G>T (n.-69+2093G>T) | |
| 10 | g.49611293C>A | CA376719322 | CHAT,SLC18A3 | c.553C>A (p.Gln185Lys) c.-69+2094C>A (n.-69+2094C>A) | gnomAD v4 |
| 10 | g.49611293C>G | CA376719324 | CHAT,SLC18A3 | c.553C>G (p.Gln185Glu) c.-69+2094C>G (n.-69+2094C>G) | |
| 10 | g.49611293C>T | CA376719327 | CHAT,SLC18A3 | c.553C>T (p.Gln185Ter) c.-69+2094C>T (n.-69+2094C>T) | |
| 10 | g.49611294A>C | CA376719334 | CHAT,SLC18A3 | c.554A>C (p.Gln185Pro) c.-69+2095A>C (n.-69+2095A>C) | |
| 10 | g.49611294A>G | CA376719337 | CHAT,SLC18A3 | c.554A>G (p.Gln185Arg) c.-69+2095A>G (n.-69+2095A>G) | gnomAD v4 |
| 10 | g.49611294A>T | CA376719333 | CHAT,SLC18A3 | c.554A>T (p.Gln185Leu) c.-69+2095A>T (n.-69+2095A>T) | |
| 10 | g.49611295G>A | CA469791273 | CHAT,SLC18A3 | c.555G>A (p.Gln185=) c.-69+2096G>A (n.-69+2096G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611295G>C | CA376719343 | CHAT,SLC18A3 | c.555G>C (p.Gln185His) c.-69+2096G>C (n.-69+2096G>C) | |
| 10 | g.49611295G= | CA1908793281 | CHAT,SLC18A3 | c.555G= (p.Gln185=) c.-69+2096G= (n.-69+2096G=) | |
| 10 | g.49611295G>T | CA376719341 | CHAT,SLC18A3 | c.555G>T (p.Gln185His) c.-69+2096G>T (n.-69+2096G>T) | gnomAD v4 |
| 10 | g.49611296G>A | CA376719356 | CHAT,SLC18A3 | c.556G>A (p.Gly186Ser) c.-69+2097G>A (n.-69+2097G>A) | gnomAD v4 |
| 10 | g.49611296G>C | CA376719348 | CHAT,SLC18A3 | c.556G>C (p.Gly186Arg) c.-69+2097G>C (n.-69+2097G>C) | |
| 10 | g.49611296G>T | CA376719352 | CHAT,SLC18A3 | c.556G>T (p.Gly186Cys) c.-69+2097G>T (n.-69+2097G>T) | gnomAD v4 |
| 10 | g.49611297G>A | CA376719360 | CHAT,SLC18A3 | c.557G>A (p.Gly186Asp) c.-69+2098G>A (n.-69+2098G>A) | |
| 10 | g.49611297G>C | CA16042221 | CHAT,SLC18A3 | c.557G>C (p.Gly186Ala) c.-69+2098G>C (n.-69+2098G>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611297G= | CA1908793289 | CHAT,SLC18A3 | c.557G= (p.Gly186=) c.-69+2098G= (n.-69+2098G=) | |
| 10 | g.49611297G>T | CA376719363 | CHAT,SLC18A3 | c.557G>T (p.Gly186Val) c.-69+2098G>T (n.-69+2098G>T) | gnomAD v4 |
| 10 | g.49611298C>A | CA469791280 | CHAT,SLC18A3 | c.558C>A (p.Gly186=) c.-69+2099C>A (n.-69+2099C>A) | |
| 10 | g.49611298C>G | CA469791279 | CHAT,SLC18A3 | c.558C>G (p.Gly186=) c.-69+2099C>G (n.-69+2099C>G) | |
| 10 | g.49611298C>T | CA469791281 | CHAT,SLC18A3 | c.558C>T (p.Gly186=) c.-69+2099C>T (n.-69+2099C>T) | gnomAD v4 |
| 10 | g.49611299C>A | CA376719366 | CHAT,SLC18A3 | c.559C>A (p.Leu187Met) c.-69+2100C>A (n.-69+2100C>A) | COSMIC |
| 10 | g.49611299C>G | CA376719371 | CHAT,SLC18A3 | c.559C>G (p.Leu187Val) c.-69+2100C>G (n.-69+2100C>G) | |
| 10 | g.49611299C>T | CA469791283 | CHAT,SLC18A3 | c.559C>T (p.Leu187=) c.-69+2100C>T (n.-69+2100C>T) | gnomAD v4 |
| 10 | g.49611300T>A | CA376719375 | CHAT,SLC18A3 | c.560T>A (p.Leu187Gln) c.-69+2101T>A (n.-69+2101T>A) | |
| 10 | g.49611300T>C | CA376719377 | CHAT,SLC18A3 | c.560T>C (p.Leu187Pro) c.-69+2101T>C (n.-69+2101T>C) | |
| 10 | g.49611300T>G | CA376719381 | CHAT,SLC18A3 | c.560T>G (p.Leu187Arg) c.-69+2101T>G (n.-69+2101T>G) | |
| 10 | g.49611301G>A | CA469791290 | CHAT,SLC18A3 | c.561G>A (p.Leu187=) c.-69+2102G>A (n.-69+2102G>A) | |
| 10 | g.49611301G>C | CA469791291 | CHAT,SLC18A3 | c.561G>C (p.Leu187=) c.-69+2102G>C (n.-69+2102G>C) | COSMIC |
| 10 | g.49611301G>T | CA469791289 | CHAT,SLC18A3 | c.561G>T (p.Leu187=) c.-69+2102G>T (n.-69+2102G>T) | |
| 10 | g.49611302G>A | CA376719391 | CHAT,SLC18A3 | c.562G>A (p.Gly188Ser) c.-69+2103G>A (n.-69+2103G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611302G>C | CA5496788 | CHAT,SLC18A3 | c.562G>C (p.Gly188Arg) c.-69+2103G>C (n.-69+2103G>C) | dbSNP ExAC gnomAD v2 |
| 10 | g.49611302G= | CA1908793302 | CHAT,SLC18A3 | c.562G= (p.Gly188=) c.-69+2103G= (n.-69+2103G=) | |
| 10 | g.49611302G>T | CA376719385 | CHAT,SLC18A3 | c.562G>T (p.Gly188Cys) c.-69+2103G>T (n.-69+2103G>T) | gnomAD v4 |
| 10 | g.49611303G>A | CA376719393 | CHAT,SLC18A3 | c.563G>A (p.Gly188Asp) c.-69+2104G>A (n.-69+2104G>A) | gnomAD v4 |
| 10 | g.49611303G>C | CA376719397 | CHAT,SLC18A3 | c.563G>C (p.Gly188Ala) c.-69+2104G>C (n.-69+2104G>C) | |
| 10 | g.49611303G= | CA1908793306 | CHAT,SLC18A3 | c.563G= (p.Gly188=) c.-69+2104G= (n.-69+2104G=) | |
| 10 | g.49611303G>T | CA376719401 | CHAT,SLC18A3 | c.563G>T (p.Gly188Val) c.-69+2104G>T (n.-69+2104G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611305_49611309del | CA2574545085 | CHAT,SLC18A3 | c.565_569del (p.Ser189LeufsTer13) c.-69+2106_-69+2110del (n.-69+2106_-69+2110del) | |
| 10 | g.49611304C>A | CA469791298 | CHAT,SLC18A3 | c.564C>A (p.Gly188=) c.-69+2105C>A (n.-69+2105C>A) | |
| 10 | g.49611304C>G | CA469791299 | CHAT,SLC18A3 | c.564C>G (p.Gly188=) c.-69+2105C>G (n.-69+2105C>G) | |
| 10 | g.49611304C>T | CA469791297 | CHAT,SLC18A3 | c.564C>T (p.Gly188=) c.-69+2105C>T (n.-69+2105C>T) | |
| 10 | g.49611305T>A | CA376719403 | CHAT,SLC18A3 | c.565T>A (p.Ser189Thr) c.-69+2106T>A (n.-69+2106T>A) | |
| 10 | g.49611305T>C | CA376719404 | CHAT,SLC18A3 | c.565T>C (p.Ser189Pro) c.-69+2106T>C (n.-69+2106T>C) | |
| 10 | g.49611305T>G | CA376719407 | CHAT,SLC18A3 | c.565T>G (p.Ser189Ala) c.-69+2106T>G (n.-69+2106T>G) | |
| 10 | g.49611306C>A | CA376719409 | CHAT,SLC18A3 | c.566C>A (p.Ser189Ter) c.-69+2107C>A (n.-69+2107C>A) | |
| 10 | g.49611306C= | CA1908793311 | CHAT,SLC18A3 | c.566C= (p.Ser189=) c.-69+2107C= (n.-69+2107C=) | |
| 10 | g.49611306C>G | CA376719412 | CHAT,SLC18A3 | c.566C>G (p.Ser189Ter) c.-69+2107C>G (n.-69+2107C>G) | |
| 10 | g.49611306C>T | CA376719414 | CHAT,SLC18A3 | c.566C>T (p.Ser189Leu) c.-69+2107C>T (n.-69+2107C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611307A>C | CA469791306 | CHAT,SLC18A3 | c.567A>C (p.Ser189=) c.-69+2108A>C (n.-69+2108A>C) | |
| 10 | g.49611307A>G | CA469791304 | CHAT,SLC18A3 | c.567A>G (p.Ser189=) c.-69+2108A>G (n.-69+2108A>G) | |
| 10 | g.49611307A>T | CA469791305 | CHAT,SLC18A3 | c.567A>T (p.Ser189=) c.-69+2108A>T (n.-69+2108A>T) | |
| 10 | g.49611308G>A | CA376719418 | CHAT,SLC18A3 | c.568G>A (p.Ala190Thr) c.-69+2109G>A (n.-69+2109G>A) | |
| 10 | g.49611308G>C | CA376719421 | CHAT,SLC18A3 | c.568G>C (p.Ala190Pro) c.-69+2109G>C (n.-69+2109G>C) | |
| 10 | g.49611308G>T | CA376719423 | CHAT,SLC18A3 | c.568G>T (p.Ala190Ser) c.-69+2109G>T (n.-69+2109G>T) | gnomAD v4 |
| 10 | g.49611309C>A | CA376719430 | CHAT,SLC18A3 | c.569C>A (p.Ala190Asp) c.-69+2110C>A (n.-69+2110C>A) | |
| 10 | g.49611309C>G | CA376719433 | CHAT,SLC18A3 | c.569C>G (p.Ala190Gly) c.-69+2110C>G (n.-69+2110C>G) | dbSNP |
| 10 | g.49611309C>T | CA376719427 | CHAT,SLC18A3 | c.569C>T (p.Ala190Val) c.-69+2110C>T (n.-69+2110C>T) | gnomAD v4 |
| 10 | g.49611310C>A | CA469791311 | CHAT,SLC18A3 | c.570C>A (p.Ala190=) c.-69+2111C>A (n.-69+2111C>A) | |
| 10 | g.49611310C= | CA1908793316 | CHAT,SLC18A3 | c.570C= (p.Ala190=) c.-69+2111C= (n.-69+2111C=) | |
| 10 | g.49611310C>G | CA469791314 | CHAT,SLC18A3 | c.570C>G (p.Ala190=) c.-69+2111C>G (n.-69+2111C>G) | |
| 10 | g.49611310C>T | CA469791312 | CHAT,SLC18A3 | c.570C>T (p.Ala190=) c.-69+2111C>T (n.-69+2111C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611311T>A | CA376719435 | CHAT,SLC18A3 | c.571T>A (p.Phe191Ile) c.-69+2112T>A (n.-69+2112T>A) | |
| 10 | g.49611311T>C | CA376719437 | CHAT,SLC18A3 | c.571T>C (p.Phe191Leu) c.-69+2112T>C (n.-69+2112T>C) | |
| 10 | g.49611311T>G | CA376719440 | CHAT,SLC18A3 | c.571T>G (p.Phe191Val) c.-69+2112T>G (n.-69+2112T>G) | |
| 10 | g.49611312T>A | CA376719443 | CHAT,SLC18A3 | c.572T>A (p.Phe191Tyr) c.-69+2113T>A (n.-69+2113T>A) | |
| 10 | g.49611312T>C | CA376719445 | CHAT,SLC18A3 | c.572T>C (p.Phe191Ser) c.-69+2113T>C (n.-69+2113T>C) | |
| 10 | g.49611312T>G | CA376719447 | CHAT,SLC18A3 | c.572T>G (p.Phe191Cys) c.-69+2113T>G (n.-69+2113T>G) | |
| 10 | g.49611313C>A | CA376719451 | CHAT,SLC18A3 | c.573C>A (p.Phe191Leu) c.-69+2114C>A (n.-69+2114C>A) | |
| 10 | g.49611313C>G | CA376719453 | CHAT,SLC18A3 | c.573C>G (p.Phe191Leu) c.-69+2114C>G (n.-69+2114C>G) | |
| 10 | g.49611313C>T | CA469791319 | CHAT,SLC18A3 | c.573C>T (p.Phe191=) c.-69+2114C>T (n.-69+2114C>T) | gnomAD v4 COSMIC |
| 10 | g.49611314G>A | CA376719457 | CHAT,SLC18A3 | c.574G>A (p.Ala192Thr) c.-69+2115G>A (n.-69+2115G>A) | gnomAD v4 COSMIC |
| 10 | g.49611314G>C | CA376719460 | CHAT,SLC18A3 | c.574G>C (p.Ala192Pro) c.-69+2115G>C (n.-69+2115G>C) | |
| 10 | g.49611314G= | CA1908793321 | CHAT,SLC18A3 | c.574G= (p.Ala192=) c.-69+2115G= (n.-69+2115G=) | |
| 10 | g.49611314G>T | CA376719464 | CHAT,SLC18A3 | c.574G>T (p.Ala192Ser) c.-69+2115G>T (n.-69+2115G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611315C>A | CA376719472 | CHAT,SLC18A3 | c.575C>A (p.Ala192Asp) c.-69+2116C>A (n.-69+2116C>A) | |
| 10 | g.49611315C= | CA1908793323 | CHAT,SLC18A3 | c.575C= (p.Ala192=) c.-69+2116C= (n.-69+2116C=) | |
| 10 | g.49611315C>G | CA376719474 | CHAT,SLC18A3 | c.575C>G (p.Ala192Gly) c.-69+2116C>G (n.-69+2116C>G) | |
| 10 | g.49611315C>T | CA5496789 | CHAT,SLC18A3 | c.575C>T (p.Ala192Val) c.-69+2116C>T (n.-69+2116C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611316C>A | CA469791326 | CHAT,SLC18A3 | c.576C>A (p.Ala192=) c.-69+2117C>A (n.-69+2117C>A) | |
| 10 | g.49611316C>G | CA469791324 | CHAT,SLC18A3 | c.576C>G (p.Ala192=) c.-69+2117C>G (n.-69+2117C>G) | gnomAD v4 |
| 10 | g.49611316C>T | CA469791325 | CHAT,SLC18A3 | c.576C>T (p.Ala192=) c.-69+2117C>T (n.-69+2117C>T) | gnomAD v4 |
| 10 | g.49611317G>A | CA376719477 | CHAT,SLC18A3 | c.577G>A (p.Asp193Asn) c.-69+2118G>A (n.-69+2118G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611317G>C | CA376719479 | CHAT,SLC18A3 | c.577G>C (p.Asp193His) c.-69+2118G>C (n.-69+2118G>C) | |
| 10 | g.49611317G= | CA1908793329 | CHAT,SLC18A3 | c.577G= (p.Asp193=) c.-69+2118G= (n.-69+2118G=) | |
| 10 | g.49611317G>T | CA376719482 | CHAT,SLC18A3 | c.577G>T (p.Asp193Tyr) c.-69+2118G>T (n.-69+2118G>T) | gnomAD v4 |
| 10 | g.49611318A>C | CA376719487 | CHAT,SLC18A3 | c.578A>C (p.Asp193Ala) c.-69+2119A>C (n.-69+2119A>C) | |
| 10 | g.49611318A>G | CA376719489 | CHAT,SLC18A3 | c.578A>G (p.Asp193Gly) c.-69+2119A>G (n.-69+2119A>G) | |
| 10 | g.49611318A>T | CA376719492 | CHAT,SLC18A3 | c.578A>T (p.Asp193Val) c.-69+2119A>T (n.-69+2119A>T) | |
| 10 | g.49611319C>A | CA376719496 | CHAT,SLC18A3 | c.579C>A (p.Asp193Glu) c.-69+2120C>A (n.-69+2120C>A) | |
| 10 | g.49611319C>G | CA376719501 | CHAT,SLC18A3 | c.579C>G (p.Asp193Glu) c.-69+2120C>G (n.-69+2120C>G) | gnomAD v4 |
| 10 | g.49611319C>T | CA469791330 | CHAT,SLC18A3 | c.579C>T (p.Asp193=) c.-69+2120C>T (n.-69+2120C>T) | |
| 10 | g.49611320A>C | CA376719503 | CHAT,SLC18A3 | c.580A>C (p.Thr194Pro) c.-69+2121A>C (n.-69+2121A>C) | |
| 10 | g.49611320A>G | CA376719506 | CHAT,SLC18A3 | c.580A>G (p.Thr194Ala) c.-69+2121A>G (n.-69+2121A>G) | gnomAD v4 |
| 10 | g.49611320A>T | CA376719508 | CHAT,SLC18A3 | c.580A>T (p.Thr194Ser) c.-69+2121A>T (n.-69+2121A>T) | gnomAD v4 |
| 10 | g.49611321C>A | CA376719512 | CHAT,SLC18A3 | c.581C>A (p.Thr194Lys) c.-69+2122C>A (n.-69+2122C>A) | |
| 10 | g.49611321C= | CA1908793334 | CHAT,SLC18A3 | c.581C= (p.Thr194=) c.-69+2122C= (n.-69+2122C=) | |
| 10 | g.49611321C>G | CA376719515 | CHAT,SLC18A3 | c.581C>G (p.Thr194Arg) c.-69+2122C>G (n.-69+2122C>G) | dbSNP |
| 10 | g.49611321C>T | CA376719518 | CHAT,SLC18A3 | c.581C>T (p.Thr194Met) c.-69+2122C>T (n.-69+2122C>T) | dbSNP gnomAD v4 |
| 10 | g.49611322G>A | CA469791342 | CHAT,SLC18A3 | c.582G>A (p.Thr194=) c.-69+2123G>A (n.-69+2123G>A) | gnomAD v4 |
| 10 | g.49611322G>C | CA469791341 | CHAT,SLC18A3 | c.582G>C (p.Thr194=) c.-69+2123G>C (n.-69+2123G>C) | |
| 10 | g.49611322G>T | CA469791339 | CHAT,SLC18A3 | c.582G>T (p.Thr194=) c.-69+2123G>T (n.-69+2123G>T) | |
| 10 | g.49611323T>A | CA376719524 | CHAT,SLC18A3 | c.583T>A (p.Ser195Thr) c.-69+2124T>A (n.-69+2124T>A) | |
| 10 | g.49611323T>C | CA376719526 | CHAT,SLC18A3 | c.583T>C (p.Ser195Pro) c.-69+2124T>C (n.-69+2124T>C) | dbSNP |
| 10 | g.49611323T>G | CA376719521 | CHAT,SLC18A3 | c.583T>G (p.Ser195Ala) c.-69+2124T>G (n.-69+2124T>G) | |
| 10 | g.49611323T= | CA1908793338 | CHAT,SLC18A3 | c.583T= (p.Ser195=) c.-69+2124T= (n.-69+2124T=) | |
| 10 | g.49611324C>A | CA376719535 | CHAT,SLC18A3 | c.584C>A (p.Ser195Tyr) c.-69+2125C>A (n.-69+2125C>A) | |
| 10 | g.49611324C>G | CA376719530 | CHAT,SLC18A3 | c.584C>G (p.Ser195Cys) c.-69+2125C>G (n.-69+2125C>G) | |
| 10 | g.49611324C>T | CA376719533 | CHAT,SLC18A3 | c.584C>T (p.Ser195Phe) c.-69+2125C>T (n.-69+2125C>T) | |
| 10 | g.49611325T>A | CA469791346 | CHAT,SLC18A3 | c.585T>A (p.Ser195=) c.-69+2126T>A (n.-69+2126T>A) | |
| 10 | g.49611325T>C | CA469791344 | CHAT,SLC18A3 | c.585T>C (p.Ser195=) c.-69+2126T>C (n.-69+2126T>C) | |
| 10 | g.49611325T>G | CA469791345 | CHAT,SLC18A3 | c.585T>G (p.Ser195=) c.-69+2126T>G (n.-69+2126T>G) | |
| 10 | g.49611326G>A | CA5496790 | CHAT,SLC18A3 | c.586G>A (p.Gly196Ser) c.-69+2127G>A (n.-69+2127G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611326G>C | CA376719539 | CHAT,SLC18A3 | c.586G>C (p.Gly196Arg) c.-69+2127G>C (n.-69+2127G>C) | |
| 10 | g.49611326G= | CA1908793346 | CHAT,SLC18A3 | c.586G= (p.Gly196=) c.-69+2127G= (n.-69+2127G=) | |
| 10 | g.49611326G>T | CA376719543 | CHAT,SLC18A3 | c.586G>T (p.Gly196Cys) c.-69+2127G>T (n.-69+2127G>T) | |
| 10 | g.49611327G>A | CA376719547 | CHAT,SLC18A3 | c.587G>A (p.Gly196Asp) c.-69+2128G>A (n.-69+2128G>A) | gnomAD v4 |
| 10 | g.49611327G>C | CA376719550 | CHAT,SLC18A3 | c.587G>C (p.Gly196Ala) c.-69+2128G>C (n.-69+2128G>C) | |
| 10 | g.49611327G>T | CA376719554 | CHAT,SLC18A3 | c.587G>T (p.Gly196Val) c.-69+2128G>T (n.-69+2128G>T) | gnomAD v4 |
| 10 | g.49611328C>A | CA469791349 | CHAT,SLC18A3 | c.588C>A (p.Gly196=) c.-69+2129C>A (n.-69+2129C>A) | |
| 10 | g.49611328C= | CA1908793352 | CHAT,SLC18A3 | c.588C= (p.Gly196=) c.-69+2129C= (n.-69+2129C=) | |
| 10 | g.49611328C>G | CA469791348 | CHAT,SLC18A3 | c.588C>G (p.Gly196=) c.-69+2129C>G (n.-69+2129C>G) | |
| 10 | g.49611328C>T | CA469791350 | CHAT,SLC18A3 | c.588C>T (p.Gly196=) c.-69+2129C>T (n.-69+2129C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611329A= | CA1908793359 | CHAT,SLC18A3 | c.589A= (p.Ile197=) c.-69+2130A= (n.-69+2130A=) | |
| 10 | g.49611329A>C | CA376719557 | CHAT,SLC18A3 | c.589A>C (p.Ile197Leu) c.-69+2130A>C (n.-69+2130A>C) | |
| 10 | g.49611329A>G | CA5496792 | CHAT,SLC18A3 | c.589A>G (p.Ile197Val) c.-69+2130A>G (n.-69+2130A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611329A>T | CA5496791 | CHAT,SLC18A3 | c.589A>T (p.Ile197Leu) c.-69+2130A>T (n.-69+2130A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611330T>A | CA376719564 | CHAT,SLC18A3 | c.590T>A (p.Ile197Lys) c.-69+2131T>A (n.-69+2131T>A) | |
| 10 | g.49611330T>C | CA376719567 | CHAT,SLC18A3 | c.590T>C (p.Ile197Thr) c.-69+2131T>C (n.-69+2131T>C) | gnomAD v4 |
| 10 | g.49611330T>G | CA376719570 | CHAT,SLC18A3 | c.590T>G (p.Ile197Arg) c.-69+2131T>G (n.-69+2131T>G) | |
| 10 | g.49611331A= | CA1908793365 | CHAT,SLC18A3 | c.591A= (p.Ile197=) c.-69+2132A= (n.-69+2132A=) | |
| 10 | g.49611331A>C | CA469791356 | CHAT,SLC18A3 | c.591A>C (p.Ile197=) c.-69+2132A>C (n.-69+2132A>C) | |
| 10 | g.49611331A>G | CA376719574 | CHAT,SLC18A3 | c.591A>G (p.Ile197Met) c.-69+2132A>G (n.-69+2132A>G) | ClinVar dbSNP |
| 10 | g.49611331A>T | CA5496793 | CHAT,SLC18A3 | c.591A>T (p.Ile197=) c.-69+2132A>T (n.-69+2132A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611332G>A | CA376719578 | CHAT,SLC18A3 | c.592G>A (p.Ala198Thr) c.-69+2133G>A (n.-69+2133G>A) | gnomAD v4 |
| 10 | g.49611332G>C | CA376719580 | CHAT,SLC18A3 | c.592G>C (p.Ala198Pro) c.-69+2133G>C (n.-69+2133G>C) | |
| 10 | g.49611332G= | CA1908793370 | CHAT,SLC18A3 | c.592G= (p.Ala198=) c.-69+2133G= (n.-69+2133G=) | |
| 10 | g.49611332G>T | CA376719583 | CHAT,SLC18A3 | c.592G>T (p.Ala198Ser) c.-69+2133G>T (n.-69+2133G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611333C>A | CA376719586 | CHAT,SLC18A3 | c.593C>A (p.Ala198Asp) c.-69+2134C>A (n.-69+2134C>A) | |
| 10 | g.49611333C>G | CA376719588 | CHAT,SLC18A3 | c.593C>G (p.Ala198Gly) c.-69+2134C>G (n.-69+2134C>G) | gnomAD v4 |
| 10 | g.49611333C>T | CA376719593 | CHAT,SLC18A3 | c.593C>T (p.Ala198Val) c.-69+2134C>T (n.-69+2134C>T) | |
| 10 | g.49611334C>A | CA469791364 | CHAT,SLC18A3 | c.594C>A (p.Ala198=) c.-69+2135C>A (n.-69+2135C>A) | |
| 10 | g.49611334C>G | CA469791363 | CHAT,SLC18A3 | c.594C>G (p.Ala198=) c.-69+2135C>G (n.-69+2135C>G) | |
| 10 | g.49611334C>T | CA469791362 | CHAT,SLC18A3 | c.594C>T (p.Ala198=) c.-69+2135C>T (n.-69+2135C>T) | |
| 10 | g.49611335A= | CA1908793373 | CHAT,SLC18A3 | c.595A= (p.Met199=) c.-69+2136A= (n.-69+2136A=) | |
| 10 | g.49611335A>C | CA376719596 | CHAT,SLC18A3 | c.595A>C (p.Met199Leu) c.-69+2136A>C (n.-69+2136A>C) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611335A>G | CA376719597 | CHAT,SLC18A3 | c.595A>G (p.Met199Val) c.-69+2136A>G (n.-69+2136A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611335A>T | CA376719601 | CHAT,SLC18A3 | c.595A>T (p.Met199Leu) c.-69+2136A>T (n.-69+2136A>T) | dbSNP |
| 10 | g.49611336T>A | CA376719605 | CHAT,SLC18A3 | c.596T>A (p.Met199Lys) c.-69+2137T>A (n.-69+2137T>A) | dbSNP |
| 10 | g.49611336T>C | CA376719608 | CHAT,SLC18A3 | c.596T>C (p.Met199Thr) c.-69+2137T>C (n.-69+2137T>C) | gnomAD v4 |
| 10 | g.49611336T>G | CA376719611 | CHAT,SLC18A3 | c.596T>G (p.Met199Arg) c.-69+2137T>G (n.-69+2137T>G) | |
| 10 | g.49611336T= | CA1908793385 | CHAT,SLC18A3 | c.596T= (p.Met199=) c.-69+2137T= (n.-69+2137T=) | |
| 10 | g.49611337G>A | CA376719622 | CHAT,SLC18A3 | c.597G>A (p.Met199Ile) c.-69+2138G>A (n.-69+2138G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611337G>C | CA376719619 | CHAT,SLC18A3 | c.597G>C (p.Met199Ile) c.-69+2138G>C (n.-69+2138G>C) | COSMIC |
| 10 | g.49611337G= | CA1908793389 | CHAT,SLC18A3 | c.597G= (p.Met199=) c.-69+2138G= (n.-69+2138G=) | |
| 10 | g.49611337G>T | CA376719615 | CHAT,SLC18A3 | c.597G>T (p.Met199Ile) c.-69+2138G>T (n.-69+2138G>T) | |
| 10 | g.49611338A>C | CA376719628 | CHAT,SLC18A3 | c.598A>C (p.Ile200Leu) c.-69+2139A>C (n.-69+2139A>C) | |
| 10 | g.49611338A>G | CA376719633 | CHAT,SLC18A3 | c.598A>G (p.Ile200Val) c.-69+2139A>G (n.-69+2139A>G) | |
| 10 | g.49611338A>T | CA376719630 | CHAT,SLC18A3 | c.598A>T (p.Ile200Phe) c.-69+2139A>T (n.-69+2139A>T) | |
| 10 | g.49611339T>A | CA376719637 | CHAT,SLC18A3 | c.599T>A (p.Ile200Asn) c.-69+2140T>A (n.-69+2140T>A) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49611339T>C | CA376719639 | CHAT,SLC18A3 | c.599T>C (p.Ile200Thr) c.-69+2140T>C (n.-69+2140T>C) | |
| 10 | g.49611339T>G | CA376719647 | CHAT,SLC18A3 | c.599T>G (p.Ile200Ser) c.-69+2140T>G (n.-69+2140T>G) | |
| 10 | g.49611339T= | CA1908793393 | CHAT,SLC18A3 | c.599T= (p.Ile200=) c.-69+2140T= (n.-69+2140T=) | |
| 10 | g.49611340C>A | CA469791378 | CHAT,SLC18A3 | c.600C>A (p.Ile200=) c.-69+2141C>A (n.-69+2141C>A) | gnomAD v4 |
| 10 | g.49611340C= | CA1908793395 | CHAT,SLC18A3 | c.600C= (p.Ile200=) c.-69+2141C= (n.-69+2141C=) | |
| 10 | g.49611340C>G | CA376719649 | CHAT,SLC18A3 | c.600C>G (p.Ile200Met) c.-69+2141C>G (n.-69+2141C>G) | |
| 10 | g.49611340C>T | CA469791379 | CHAT,SLC18A3 | c.600C>T (p.Ile200=) c.-69+2141C>T (n.-69+2141C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611341G>A | CA376719650 | CHAT,SLC18A3 | c.601G>A (p.Ala201Thr) c.-69+2142G>A (n.-69+2142G>A) | gnomAD v4 |
| 10 | g.49611341G>C | CA376719651 | CHAT,SLC18A3 | c.601G>C (p.Ala201Pro) c.-69+2142G>C (n.-69+2142G>C) | |
| 10 | g.49611341G>T | CA376719653 | CHAT,SLC18A3 | c.601G>T (p.Ala201Ser) c.-69+2142G>T (n.-69+2142G>T) | |
| 10 | g.49611342C>A | CA376719656 | CHAT,SLC18A3 | c.602C>A (p.Ala201Asp) c.-69+2143C>A (n.-69+2143C>A) | |
| 10 | g.49611342C= | CA1908793399 | CHAT,SLC18A3 | c.602C= (p.Ala201=) c.-69+2143C= (n.-69+2143C=) | |
| 10 | g.49611342C>G | CA376719658 | CHAT,SLC18A3 | c.602C>G (p.Ala201Gly) c.-69+2143C>G (n.-69+2143C>G) | |
| 10 | g.49611342C>T | CA376719659 | CHAT,SLC18A3 | c.602C>T (p.Ala201Val) c.-69+2143C>T (n.-69+2143C>T) | dbSNP gnomAD v4 |
| 10 | g.49611343C>A | CA469791388 | CHAT,SLC18A3 | c.603C>A (p.Ala201=) c.-69+2144C>A (n.-69+2144C>A) | |
| 10 | g.49611343C= | CA1908793404 | CHAT,SLC18A3 | c.603C= (p.Ala201=) c.-69+2144C= (n.-69+2144C=) | |
| 10 | g.49611343C>G | CA206621073 | CHAT,SLC18A3 | c.603C>G (p.Ala201=) c.-69+2144C>G (n.-69+2144C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611343C>T | CA5496794 | CHAT,SLC18A3 | c.603C>T (p.Ala201=) c.-69+2144C>T (n.-69+2144C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611344G>A | CA376719666 | CHAT,SLC18A3 | c.604G>A (p.Asp202Asn) c.-69+2145G>A (n.-69+2145G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611344G>C | CA376719664 | CHAT,SLC18A3 | c.604G>C (p.Asp202His) c.-69+2145G>C (n.-69+2145G>C) | |
| 10 | g.49611344G= | CA1908793414 | CHAT,SLC18A3 | c.604G= (p.Asp202=) c.-69+2145G= (n.-69+2145G=) | |
| 10 | g.49611344G>T | CA376719663 | CHAT,SLC18A3 | c.604G>T (p.Asp202Tyr) c.-69+2145G>T (n.-69+2145G>T) | ClinVar |
| 10 | g.49611345A= | CA1908793425 | CHAT,SLC18A3 | c.605A= (p.Asp202=) c.-69+2146A= (n.-69+2146A=) | |
| 10 | g.49611345A>C | CA376719669 | CHAT,SLC18A3 | c.605A>C (p.Asp202Ala) c.-69+2146A>C (n.-69+2146A>C) | |
| 10 | g.49611345A>G | CA5496795 | CHAT,SLC18A3 | c.605A>G (p.Asp202Gly) c.-69+2146A>G (n.-69+2146A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611345A>T | CA376719672 | CHAT,SLC18A3 | c.605A>T (p.Asp202Val) c.-69+2146A>T (n.-69+2146A>T) | |
| 10 | g.49611346T>A | CA376719673 | CHAT,SLC18A3 | c.606T>A (p.Asp202Glu) c.-69+2147T>A (n.-69+2147T>A) | |
| 10 | g.49611346T>C | CA469791393 | CHAT,SLC18A3 | c.606T>C (p.Asp202=) c.-69+2147T>C (n.-69+2147T>C) | |
| 10 | g.49611346T>G | CA376719675 | CHAT,SLC18A3 | c.606T>G (p.Asp202Glu) c.-69+2147T>G (n.-69+2147T>G) | |
| 10 | g.49611346_49611354dup | CA2609115630 | CHAT,SLC18A3 | c.606_614dup (p.Pro205_Glu206insLysTyrPro) c.-69+2147_-69+2155dup (n.-69+2147_-69+2155dup) | gnomAD v4 |
| 10 | g.49611347A>C | CA376719678 | CHAT,SLC18A3 | c.607A>C (p.Lys203Gln) c.-69+2148A>C (n.-69+2148A>C) | |
| 10 | g.49611347A>G | CA376719680 | CHAT,SLC18A3 | c.607A>G (p.Lys203Glu) c.-69+2148A>G (n.-69+2148A>G) | |
| 10 | g.49611347A>T | CA376719681 | CHAT,SLC18A3 | c.607A>T (p.Lys203Ter) c.-69+2148A>T (n.-69+2148A>T) | |
| 10 | g.49611348A= | CA1908793429 | CHAT,SLC18A3 | c.608A= (p.Lys203=) c.-69+2149A= (n.-69+2149A=) | |
| 10 | g.49611348A>C | CA376719682 | CHAT,SLC18A3 | c.608A>C (p.Lys203Thr) c.-69+2149A>C (n.-69+2149A>C) | |
| 10 | g.49611348A>G | CA376719683 | CHAT,SLC18A3 | c.608A>G (p.Lys203Arg) c.-69+2149A>G (n.-69+2149A>G) | dbSNP gnomAD v2 |
| 10 | g.49611348A>T | CA376719686 | CHAT,SLC18A3 | c.608A>T (p.Lys203Met) c.-69+2149A>T (n.-69+2149A>T) | |
| 10 | g.49611349G>A | CA469791394 | CHAT,SLC18A3 | c.609G>A (p.Lys203=) c.-69+2150G>A (n.-69+2150G>A) | gnomAD v4 |
| 10 | g.49611349G>C | CA376719689 | CHAT,SLC18A3 | c.609G>C (p.Lys203Asn) c.-69+2150G>C (n.-69+2150G>C) | |
| 10 | g.49611349G= | CA1908793432 | CHAT,SLC18A3 | c.609G= (p.Lys203=) c.-69+2150G= (n.-69+2150G=) | |
| 10 | g.49611349G>T | CA376719691 | CHAT,SLC18A3 | c.609G>T (p.Lys203Asn) c.-69+2150G>T (n.-69+2150G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611350T>A | CA376719696 | CHAT,SLC18A3 | c.610T>A (p.Tyr204Asn) c.-69+2151T>A (n.-69+2151T>A) | |
| 10 | g.49611350T>C | CA376719699 | CHAT,SLC18A3 | c.610T>C (p.Tyr204His) c.-69+2151T>C (n.-69+2151T>C) | |
| 10 | g.49611350T>G | CA376719694 | CHAT,SLC18A3 | c.610T>G (p.Tyr204Asp) c.-69+2151T>G (n.-69+2151T>G) | |
| 10 | g.49611351A>C | CA376719704 | CHAT,SLC18A3 | c.611A>C (p.Tyr204Ser) c.-69+2152A>C (n.-69+2152A>C) | |
| 10 | g.49611351A>G | CA376719702 | CHAT,SLC18A3 | c.611A>G (p.Tyr204Cys) c.-69+2152A>G (n.-69+2152A>G) | |
| 10 | g.49611351A>T | CA376719706 | CHAT,SLC18A3 | c.611A>T (p.Tyr204Phe) c.-69+2152A>T (n.-69+2152A>T) | |
| 10 | g.49611352C>A | CA5496796 | CHAT,SLC18A3 | c.612C>A (p.Tyr204Ter) c.-69+2153C>A (n.-69+2153C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611352C= | CA1908793438 | CHAT,SLC18A3 | c.612C= (p.Tyr204=) c.-69+2153C= (n.-69+2153C=) | |
| 10 | g.49611352C>G | CA376719709 | CHAT,SLC18A3 | c.612C>G (p.Tyr204Ter) c.-69+2153C>G (n.-69+2153C>G) | |
| 10 | g.49611352C>T | CA469791401 | CHAT,SLC18A3 | c.612C>T (p.Tyr204=) c.-69+2153C>T (n.-69+2153C>T) | gnomAD v4 |
| 10 | g.49611353C>A | CA376719712 | CHAT,SLC18A3 | c.613C>A (p.Pro205Thr) c.-69+2154C>A (n.-69+2154C>A) | gnomAD v4 |
| 10 | g.49611353C= | CA1908793449 | CHAT,SLC18A3 | c.613C= (p.Pro205=) c.-69+2154C= (n.-69+2154C=) | |
| 10 | g.49611353C>G | CA376719714 | CHAT,SLC18A3 | c.613C>G (p.Pro205Ala) c.-69+2154C>G (n.-69+2154C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611353C>T | CA376719716 | CHAT,SLC18A3 | c.613C>T (p.Pro205Ser) c.-69+2154C>T (n.-69+2154C>T) | dbSNP gnomAD v4 |
| 10 | g.49611354C>A | CA376719717 | CHAT,SLC18A3 | c.614C>A (p.Pro205Gln) c.-69+2155C>A (n.-69+2155C>A) | gnomAD v4 |
| 10 | g.49611354C= | CA1908793453 | CHAT,SLC18A3 | c.614C= (p.Pro205=) c.-69+2155C= (n.-69+2155C=) | |
| 10 | g.49611354C>G | CA376719720 | CHAT,SLC18A3 | c.614C>G (p.Pro205Arg) c.-69+2155C>G (n.-69+2155C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611354C>T | CA206621083 | CHAT,SLC18A3 | c.614C>T (p.Pro205Leu) c.-69+2155C>T (n.-69+2155C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611355G>A | CA5496798 | CHAT,SLC18A3 | c.615G>A (p.Pro205=) c.-69+2156G>A (n.-69+2156G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611355G>C | CA5496797 | CHAT,SLC18A3 | c.615G>C (p.Pro205=) c.-69+2156G>C (n.-69+2156G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611355G= | CA1908793458 | CHAT,SLC18A3 | c.615G= (p.Pro205=) c.-69+2156G= (n.-69+2156G=) | |
| 10 | g.49611355G>T | CA469791407 | CHAT,SLC18A3 | c.615G>T (p.Pro205=) c.-69+2156G>T (n.-69+2156G>T) | |
| 10 | g.49611356G>A | CA206621089 | CHAT,SLC18A3 | c.616G>A (p.Glu206Lys) c.-69+2157G>A (n.-69+2157G>A) | dbSNP |
| 10 | g.49611356G>C | CA376719731 | CHAT,SLC18A3 | c.616G>C (p.Glu206Gln) c.-69+2157G>C (n.-69+2157G>C) | |
| 10 | g.49611356G= | CA1908793471 | CHAT,SLC18A3 | c.616G= (p.Glu206=) c.-69+2157G= (n.-69+2157G=) | |
| 10 | g.49611356G>T | CA376719735 | CHAT,SLC18A3 | c.616G>T (p.Glu206Ter) c.-69+2157G>T (n.-69+2157G>T) | |
| 10 | g.49611357A= | CA1908793476 | CHAT,SLC18A3 | c.617A= (p.Glu206=) c.-69+2158A= (n.-69+2158A=) | |
| 10 | g.49611357A>C | CA376719742 | CHAT,SLC18A3 | c.617A>C (p.Glu206Ala) c.-69+2158A>C (n.-69+2158A>C) | |
| 10 | g.49611357A>G | CA5496799 | CHAT,SLC18A3 | c.617A>G (p.Glu206Gly) c.-69+2158A>G (n.-69+2158A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611357A>T | CA376719740 | CHAT,SLC18A3 | c.617A>T (p.Glu206Val) c.-69+2158A>T (n.-69+2158A>T) | |
| 10 | g.49611358G>A | CA469791408 | CHAT,SLC18A3 | c.618G>A (p.Glu206=) c.-69+2159G>A (n.-69+2159G>A) | |
| 10 | g.49611358G>C | CA376719744 | CHAT,SLC18A3 | c.618G>C (p.Glu206Asp) c.-69+2159G>C (n.-69+2159G>C) | gnomAD v4 |
| 10 | g.49611358G>T | CA376719745 | CHAT,SLC18A3 | c.618G>T (p.Glu206Asp) c.-69+2159G>T (n.-69+2159G>T) | COSMIC |
| 10 | g.49611359G>A | CA376719746 | CHAT,SLC18A3 | c.619G>A (p.Glu207Lys) c.-69+2160G>A (n.-69+2160G>A) | gnomAD v4 |
| 10 | g.49611359G>C | CA376719747 | CHAT,SLC18A3 | c.619G>C (p.Glu207Gln) c.-69+2160G>C (n.-69+2160G>C) | |
| 10 | g.49611359G>T | CA376719748 | CHAT,SLC18A3 | c.619G>T (p.Glu207Ter) c.-69+2160G>T (n.-69+2160G>T) | |
| 10 | g.49611360A= | CA1908793479 | CHAT,SLC18A3 | c.620A= (p.Glu207=) c.-69+2161A= (n.-69+2161A=) | |
| 10 | g.49611360A>C | CA376719752 | CHAT,SLC18A3 | c.620A>C (p.Glu207Ala) c.-69+2161A>C (n.-69+2161A>C) | |
| 10 | g.49611360A>G | CA376719754 | CHAT,SLC18A3 | c.620A>G (p.Glu207Gly) c.-69+2161A>G (n.-69+2161A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611360A>T | CA376719755 | CHAT,SLC18A3 | c.620A>T (p.Glu207Val) c.-69+2161A>T (n.-69+2161A>T) | |
| 10 | g.49611360_49611368delinsAGCCGGAGC | CA1908793480 | CHAT,SLC18A3 | c.620_628delinsAGCCGGAGC (p.Glu207=) c.-69+2161_-69+2169delinsAGCCGGAGC (n.-69+2161_-69+2169delinsAGCCGGAGC) | |
| 10 | g.49611361G>A | CA5496800 | CHAT,SLC18A3 | c.621G>A (p.Glu207=) c.-69+2162G>A (n.-69+2162G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611361G>C | CA376719764 | CHAT,SLC18A3 | c.621G>C (p.Glu207Asp) c.-69+2162G>C (n.-69+2162G>C) | |
| 10 | g.49611361G= | CA1908793488 | CHAT,SLC18A3 | c.621G= (p.Glu207=) c.-69+2162G= (n.-69+2162G=) | |
| 10 | g.49611361G>T | CA376719766 | CHAT,SLC18A3 | c.621G>T (p.Glu207Asp) c.-69+2162G>T (n.-69+2162G>T) | |
| 10 | g.49611363_49611370del | CA918671466 | CHAT,SLC18A3 | c.623_630del (p.Pro208GlnfsTer12) c.-69+2164_-69+2171del (n.-69+2164_-69+2171del) | dbSNP |
| 10 | g.49611362C>A | CA376719773 | CHAT,SLC18A3 | c.622C>A (p.Pro208Thr) c.-69+2163C>A (n.-69+2163C>A) | gnomAD v4 |
| 10 | g.49611362C= | CA1908793491 | CHAT,SLC18A3 | c.622C= (p.Pro208=) c.-69+2163C= (n.-69+2163C=) | |
| 10 | g.49611362C>G | CA376719776 | CHAT,SLC18A3 | c.622C>G (p.Pro208Ala) c.-69+2163C>G (n.-69+2163C>G) | gnomAD v4 |
| 10 | g.49611362C>T | CA5496801 | CHAT,SLC18A3 | c.622C>T (p.Pro208Ser) c.-69+2163C>T (n.-69+2163C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611363C>A | CA376719779 | CHAT,SLC18A3 | c.623C>A (p.Pro208Gln) c.-69+2164C>A (n.-69+2164C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611363C= | CA1908793496 | CHAT,SLC18A3 | c.623C= (p.Pro208=) c.-69+2164C= (n.-69+2164C=) | |
| 10 | g.49611363C>G | CA5496802 | CHAT,SLC18A3 | c.623C>G (p.Pro208Arg) c.-69+2164C>G (n.-69+2164C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611363C>T | CA5496803 | CHAT,SLC18A3 | c.623C>T (p.Pro208Leu) c.-69+2164C>T (n.-69+2164C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49611364G>A | CA469791423 | CHAT,SLC18A3 | c.624G>A (p.Pro208=) c.-69+2165G>A (n.-69+2165G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611364G>C | CA469791425 | CHAT,SLC18A3 | c.624G>C (p.Pro208=) c.-69+2165G>C (n.-69+2165G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49611364G= | CA1908793505 | CHAT,SLC18A3 | c.624G= (p.Pro208=) c.-69+2165G= (n.-69+2165G=) | |
| 10 | g.49611364G>T | CA469791424 | CHAT,SLC18A3 | c.624G>T (p.Pro208=) c.-69+2165G>T (n.-69+2165G>T) | gnomAD v4 |
| 10 | g.49611365G>A | CA376719788 | CHAT,SLC18A3 | c.625G>A (p.Glu209Lys) c.-69+2166G>A (n.-69+2166G>A) | |
| 10 | g.49611365G>C | CA5496804 | CHAT,SLC18A3 | c.625G>C (p.Glu209Gln) c.-69+2166G>C (n.-69+2166G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611365G= | CA1908793507 | CHAT,SLC18A3 | c.625G= (p.Glu209=) c.-69+2166G= (n.-69+2166G=) | |
| 10 | g.49611365G>T | CA376719792 | CHAT,SLC18A3 | c.625G>T (p.Glu209Ter) c.-69+2166G>T (n.-69+2166G>T) | gnomAD v4 |
| 10 | g.49611366A>C | CA376719801 | CHAT,SLC18A3 | c.626A>C (p.Glu209Ala) c.-69+2167A>C (n.-69+2167A>C) | |
| 10 | g.49611366A>G | CA376719795 | CHAT,SLC18A3 | c.626A>G (p.Glu209Gly) c.-69+2167A>G (n.-69+2167A>G) | gnomAD v4 |
| 10 | g.49611366A>T | CA376719798 | CHAT,SLC18A3 | c.626A>T (p.Glu209Val) c.-69+2167A>T (n.-69+2167A>T) | |
| 10 | g.49611367G>A | CA469791435 | CHAT,SLC18A3 | c.627G>A (p.Glu209=) c.-69+2168G>A (n.-69+2168G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49611367G>C | CA376719804 | CHAT,SLC18A3 | c.627G>C (p.Glu209Asp) c.-69+2168G>C (n.-69+2168G>C) | |
| 10 | g.49611367G= | CA1908793511 | CHAT,SLC18A3 | c.627G= (p.Glu209=) c.-69+2168G= (n.-69+2168G=) | |
| 10 | g.49611367G>T | CA376719806 | CHAT,SLC18A3 | c.627G>T (p.Glu209Asp) c.-69+2168G>T (n.-69+2168G>T) | dbSNP |
| 10 | g.49611368C>A | CA376719810 | CHAT,SLC18A3 | c.628C>A (p.Arg210Ser) c.-69+2169C>A (n.-69+2169C>A) | gnomAD v4 |
| 10 | g.49611368C= | CA1908793516 | CHAT,SLC18A3 | c.628C= (p.Arg210=) c.-69+2169C= (n.-69+2169C=) | |
| 10 | g.49611368C>G | CA376719813 | CHAT,SLC18A3 | c.628C>G (p.Arg210Gly) c.-69+2169C>G (n.-69+2169C>G) | |
| 10 | g.49611368C>T | CA5496805 | CHAT,SLC18A3 | c.628C>T (p.Arg210Cys) c.-69+2169C>T (n.-69+2169C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.49611369G>A | CA376719819 | CHAT,SLC18A3 | c.629G>A (p.Arg210His) c.-69+2170G>A (n.-69+2170G>A) | gnomAD v4 |
| 10 | g.49611369G>C | CA5496806 | CHAT,SLC18A3 | c.629G>C (p.Arg210Pro) c.-69+2170G>C (n.-69+2170G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49611369G= | CA1908793523 | CHAT,SLC18A3 | c.629G= (p.Arg210=) c.-69+2170G= (n.-69+2170G=) | |
| 10 | g.49611369G>T | CA376719821 | CHAT,SLC18A3 | c.629G>T (p.Arg210Leu) c.-69+2170G>T (n.-69+2170G>T) | |
| 10 | g.49611370C>A | CA469791450 | CHAT,SLC18A3 | c.630C>A (p.Arg210=) c.-69+2171C>A (n.-69+2171C>A) | |
| 10 | g.49611370C>G | CA469791457 | CHAT,SLC18A3 | c.630C>G (p.Arg210=) c.-69+2171C>G (n.-69+2171C>G) | |
| 10 | g.49611370C>T | CA469791455 | CHAT,SLC18A3 | c.630C>T (p.Arg210=) c.-69+2171C>T (n.-69+2171C>T) | |
| 10 | g.49611371A= | CA1908793530 | CHAT,SLC18A3 | c.631A= (p.Ser211=) c.-69+2172A= (n.-69+2172A=) | |
| 10 | g.49611371A>C | CA376719822 | CHAT,SLC18A3 | c.631A>C (p.Ser211Arg) c.-69+2172A>C (n.-69+2172A>C) | |
| 10 | g.49611371A>G | CA376719823 | CHAT,SLC18A3 | c.631A>G (p.Ser211Gly) c.-69+2172A>G (n.-69+2172A>G) | |
| 10 | g.49611371A>T | CA376719825 | CHAT,SLC18A3 | c.631A>T (p.Ser211Cys) c.-69+2172A>T (n.-69+2172A>T) | dbSNP gnomAD v3 gnomAD v4 |