Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611597T>A | CA376721044 | CHAT,SLC18A3 | c.857T>A (p.Met286Lys) c.-69+2398T>A (n.-69+2398T>A) | |
10 | g.49611597T>C | CA376721045 | CHAT,SLC18A3 | c.857T>C (p.Met286Thr) c.-69+2398T>C (n.-69+2398T>C) | |
10 | g.49611597T>G | CA376721046 | CHAT,SLC18A3 | c.857T>G (p.Met286Arg) c.-69+2398T>G (n.-69+2398T>G) | |
10 | g.49611598G>A | CA376721047 | CHAT,SLC18A3 | c.858G>A (p.Met286Ile) c.-69+2399G>A (n.-69+2399G>A) | gnomAD v4 |
10 | g.49611598G>C | CA376721048 | CHAT,SLC18A3 | c.858G>C (p.Met286Ile) c.-69+2399G>C (n.-69+2399G>C) | |
10 | g.49611598G>T | CA376721049 | CHAT,SLC18A3 | c.858G>T (p.Met286Ile) c.-69+2399G>T (n.-69+2399G>T) | gnomAD v4 |
10 | g.49611599C>A | CA376721050 | CHAT,SLC18A3 | c.859C>A (p.Leu287Ile) c.-69+2400C>A (n.-69+2400C>A) | |
10 | g.49611599C>G | CA376721051 | CHAT,SLC18A3 | c.859C>G (p.Leu287Val) c.-69+2400C>G (n.-69+2400C>G) | |
10 | g.49611599C>T | CA469791215 | CHAT,SLC18A3 | c.859C>T (p.Leu287=) c.-69+2400C>T (n.-69+2400C>T) | gnomAD v4 COSMIC |
10 | g.49611600T>A | CA376721052 | CHAT,SLC18A3 | c.860T>A (p.Leu287Gln) c.-69+2401T>A (n.-69+2401T>A) | |
10 | g.49611600T>C | CA376721053 | CHAT,SLC18A3 | c.860T>C (p.Leu287Pro) c.-69+2401T>C (n.-69+2401T>C) | gnomAD v4 |
10 | g.49611600T>G | CA376721054 | CHAT,SLC18A3 | c.860T>G (p.Leu287Arg) c.-69+2401T>G (n.-69+2401T>G) | |
10 | g.49611601A= | CA1908794272 | CHAT,SLC18A3 | c.861A= (p.Leu287=) c.-69+2402A= (n.-69+2402A=) | |
10 | g.49611601A>C | CA469791220 | CHAT,SLC18A3 | c.861A>C (p.Leu287=) c.-69+2402A>C (n.-69+2402A>C) | |
10 | g.49611601A>G | CA469791219 | CHAT,SLC18A3 | c.861A>G (p.Leu287=) c.-69+2402A>G (n.-69+2402A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611601A>T | CA469791217 | CHAT,SLC18A3 | c.861A>T (p.Leu287=) c.-69+2402A>T (n.-69+2402A>T) | |
10 | g.49611602G>A | CA376721055 | CHAT,SLC18A3 | c.862G>A (p.Asp288Asn) c.-69+2403G>A (n.-69+2403G>A) | |
10 | g.49611602G>C | CA376721056 | CHAT,SLC18A3 | c.862G>C (p.Asp288His) c.-69+2403G>C (n.-69+2403G>C) | |
10 | g.49611602G>T | CA376721057 | CHAT,SLC18A3 | c.862G>T (p.Asp288Tyr) c.-69+2403G>T (n.-69+2403G>T) | gnomAD v4 |
10 | g.49611603A= | CA1908794275 | CHAT,SLC18A3 | c.863A= (p.Asp288=) c.-69+2404A= (n.-69+2404A=) | |
10 | g.49611603A>C | CA376721058 | CHAT,SLC18A3 | c.863A>C (p.Asp288Ala) c.-69+2404A>C (n.-69+2404A>C) | dbSNP |
10 | g.49611603A>G | CA376721059 | CHAT,SLC18A3 | c.863A>G (p.Asp288Gly) c.-69+2404A>G (n.-69+2404A>G) | |
10 | g.49611603A>T | CA376721060 | CHAT,SLC18A3 | c.863A>T (p.Asp288Val) c.-69+2404A>T (n.-69+2404A>T) | |
10 | g.49611604C>A | CA5496857 | CHAT,SLC18A3 | c.864C>A (p.Asp288Glu) c.-69+2405C>A (n.-69+2405C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611604C= | CA1908794283 | CHAT,SLC18A3 | c.864C= (p.Asp288=) c.-69+2405C= (n.-69+2405C=) | |
10 | g.49611604C>G | CA376721061 | CHAT,SLC18A3 | c.864C>G (p.Asp288Glu) c.-69+2405C>G (n.-69+2405C>G) | |
10 | g.49611604C>T | CA5496856 | CHAT,SLC18A3 | c.864C>T (p.Asp288=) c.-69+2405C>T (n.-69+2405C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611605C>A | CA376721063 | CHAT,SLC18A3 | c.865C>A (p.Pro289Thr) c.-69+2406C>A (n.-69+2406C>A) | |
10 | g.49611605C>G | CA376721064 | CHAT,SLC18A3 | c.865C>G (p.Pro289Ala) c.-69+2406C>G (n.-69+2406C>G) | |
10 | g.49611605C>T | CA376721062 | CHAT,SLC18A3 | c.865C>T (p.Pro289Ser) c.-69+2406C>T (n.-69+2406C>T) | gnomAD v4 |
10 | g.49611606C>A | CA376721065 | CHAT,SLC18A3 | c.866C>A (p.Pro289His) c.-69+2407C>A (n.-69+2407C>A) | ClinVar dbSNP |
10 | g.49611606C>G | CA376721066 | CHAT,SLC18A3 | c.866C>G (p.Pro289Arg) c.-69+2407C>G (n.-69+2407C>G) | |
10 | g.49611606C>T | CA376721067 | CHAT,SLC18A3 | c.866C>T (p.Pro289Leu) c.-69+2407C>T (n.-69+2407C>T) | ClinVar |
10 | g.49611607C>A | CA469791225 | CHAT,SLC18A3 | c.867C>A (p.Pro289=) c.-69+2408C>A (n.-69+2408C>A) | |
10 | g.49611607C= | CA1908794286 | CHAT,SLC18A3 | c.867C= (p.Pro289=) c.-69+2408C= (n.-69+2408C=) | |
10 | g.49611607C>G | CA469791226 | CHAT,SLC18A3 | c.867C>G (p.Pro289=) c.-69+2408C>G (n.-69+2408C>G) | |
10 | g.49611607C>T | CA5496858 | CHAT,SLC18A3 | c.867C>T (p.Pro289=) c.-69+2408C>T (n.-69+2408C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611608T>A | CA376721070 | CHAT,SLC18A3 | c.868T>A (p.Tyr290Asn) c.-69+2409T>A (n.-69+2409T>A) | |
10 | g.49611608T>C | CA376721069 | CHAT,SLC18A3 | c.868T>C (p.Tyr290His) c.-69+2409T>C (n.-69+2409T>C) | |
10 | g.49611608T>G | CA376721068 | CHAT,SLC18A3 | c.868T>G (p.Tyr290Asp) c.-69+2409T>G (n.-69+2409T>G) | |
10 | g.49611609A= | CA1908794290 | CHAT,SLC18A3 | c.869A= (p.Tyr290=) c.-69+2410A= (n.-69+2410A=) | |
10 | g.49611609A>C | CA376721071 | CHAT,SLC18A3 | c.869A>C (p.Tyr290Ser) c.-69+2410A>C (n.-69+2410A>C) | |
10 | g.49611609A>G | CA5496859 | CHAT,SLC18A3 | c.869A>G (p.Tyr290Cys) c.-69+2410A>G (n.-69+2410A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611609A>T | CA376721072 | CHAT,SLC18A3 | c.869A>T (p.Tyr290Phe) c.-69+2410A>T (n.-69+2410A>T) | |
10 | g.49611610C>A | CA376721073 | CHAT,SLC18A3 | c.870C>A (p.Tyr290Ter) c.-69+2411C>A (n.-69+2411C>A) | |
10 | g.49611610C= | CA1908794295 | CHAT,SLC18A3 | c.870C= (p.Tyr290=) c.-69+2411C= (n.-69+2411C=) | |
10 | g.49611610C>G | CA376721074 | CHAT,SLC18A3 | c.870C>G (p.Tyr290Ter) c.-69+2411C>G (n.-69+2411C>G) | |
10 | g.49611610C>T | CA5496860 | CHAT,SLC18A3 | c.870C>T (p.Tyr290=) c.-69+2411C>T (n.-69+2411C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611611A= | CA1908794299 | CHAT,SLC18A3 | c.871A= (p.Ile291=) c.-69+2412A= (n.-69+2412A=) | |
10 | g.49611611A>C | CA376721077 | CHAT,SLC18A3 | c.871A>C (p.Ile291Leu) c.-69+2412A>C (n.-69+2412A>C) | |
10 | g.49611611A>G | CA376721075 | CHAT,SLC18A3 | c.871A>G (p.Ile291Val) c.-69+2412A>G (n.-69+2412A>G) | gnomAD v4 |
10 | g.49611611A>T | CA376721076 | CHAT,SLC18A3 | c.871A>T (p.Ile291Phe) c.-69+2412A>T (n.-69+2412A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611612T>A | CA206621267 | CHAT,SLC18A3 | c.872T>A (p.Ile291Asn) c.-69+2413T>A (n.-69+2413T>A) | dbSNP |
10 | g.49611612T>C | CA376721078 | CHAT,SLC18A3 | c.872T>C (p.Ile291Thr) c.-69+2413T>C (n.-69+2413T>C) | |
10 | g.49611612T>G | CA376721079 | CHAT,SLC18A3 | c.872T>G (p.Ile291Ser) c.-69+2413T>G (n.-69+2413T>G) | |
10 | g.49611612T= | CA1908794302 | CHAT,SLC18A3 | c.872T= (p.Ile291=) c.-69+2413T= (n.-69+2413T=) | |
10 | g.49611613T>A | CA469791230 | CHAT,SLC18A3 | c.873T>A (p.Ile291=) c.-69+2414T>A (n.-69+2414T>A) | |
10 | g.49611613T>C | CA469791231 | CHAT,SLC18A3 | c.873T>C (p.Ile291=) c.-69+2414T>C (n.-69+2414T>C) | |
10 | g.49611613T>G | CA376721080 | CHAT,SLC18A3 | c.873T>G (p.Ile291Met) c.-69+2414T>G (n.-69+2414T>G) | |
10 | g.49611614G>A | CA376721081 | CHAT,SLC18A3 | c.874G>A (p.Ala292Thr) c.-69+2415G>A (n.-69+2415G>A) | |
10 | g.49611614G>C | CA376721082 | CHAT,SLC18A3 | c.874G>C (p.Ala292Pro) c.-69+2415G>C (n.-69+2415G>C) | |
10 | g.49611614G>T | CA376721083 | CHAT,SLC18A3 | c.874G>T (p.Ala292Ser) c.-69+2415G>T (n.-69+2415G>T) | gnomAD v4 |
10 | g.49611615C>A | CA376721084 | CHAT,SLC18A3 | c.875C>A (p.Ala292Asp) c.-69+2416C>A (n.-69+2416C>A) | |
10 | g.49611615C>G | CA376721085 | CHAT,SLC18A3 | c.875C>G (p.Ala292Gly) c.-69+2416C>G (n.-69+2416C>G) | |
10 | g.49611615C>T | CA376721086 | CHAT,SLC18A3 | c.875C>T (p.Ala292Val) c.-69+2416C>T (n.-69+2416C>T) | gnomAD v4 |
10 | g.49611616C>A | CA469791235 | CHAT,SLC18A3 | c.876C>A (p.Ala292=) c.-69+2417C>A (n.-69+2417C>A) | |
10 | g.49611616C= | CA1908794306 | CHAT,SLC18A3 | c.876C= (p.Ala292=) c.-69+2417C= (n.-69+2417C=) | |
10 | g.49611616C>G | CA469791234 | CHAT,SLC18A3 | c.876C>G (p.Ala292=) c.-69+2417C>G (n.-69+2417C>G) | dbSNP |
10 | g.49611616C>T | CA469791236 | CHAT,SLC18A3 | c.876C>T (p.Ala292=) c.-69+2417C>T (n.-69+2417C>T) | dbSNP gnomAD v4 COSMIC |
10 | g.49611617G>A | CA5496861 | CHAT,SLC18A3 | c.877G>A (p.Val293Met) c.-69+2418G>A (n.-69+2418G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611617G>C | CA376721087 | CHAT,SLC18A3 | c.877G>C (p.Val293Leu) c.-69+2418G>C (n.-69+2418G>C) | |
10 | g.49611617G= | CA1908794309 | CHAT,SLC18A3 | c.877G= (p.Val293=) c.-69+2418G= (n.-69+2418G=) | |
10 | g.49611617G>T | CA376721088 | CHAT,SLC18A3 | c.877G>T (p.Val293Leu) c.-69+2418G>T (n.-69+2418G>T) | |
10 | g.49611618T>A | CA376721089 | CHAT,SLC18A3 | c.878T>A (p.Val293Glu) c.-69+2419T>A (n.-69+2419T>A) | |
10 | g.49611618T>C | CA376721091 | CHAT,SLC18A3 | c.878T>C (p.Val293Ala) c.-69+2419T>C (n.-69+2419T>C) | gnomAD v4 |
10 | g.49611618T>G | CA376721090 | CHAT,SLC18A3 | c.878T>G (p.Val293Gly) c.-69+2419T>G (n.-69+2419T>G) | |
10 | g.49611619G>A | CA469791237 | CHAT,SLC18A3 | c.879G>A (p.Val293=) c.-69+2420G>A (n.-69+2420G>A) | |
10 | g.49611619G>C | CA5496862 | CHAT,SLC18A3 | c.879G>C (p.Val293=) c.-69+2420G>C (n.-69+2420G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611619G= | CA1908794313 | CHAT,SLC18A3 | c.879G= (p.Val293=) c.-69+2420G= (n.-69+2420G=) | |
10 | g.49611619G>T | CA469791238 | CHAT,SLC18A3 | c.879G>T (p.Val293=) c.-69+2420G>T (n.-69+2420G>T) | gnomAD v4 |
10 | g.49611619_49611623del | CA2573145178 | CHAT,SLC18A3 | c.879_883del (p.Val294ArgfsTer7) c.-69+2420_-69+2424del (n.-69+2420_-69+2424del) | ClinVar dbSNP |
10 | g.49611620G>A | CA376721092 | CHAT,SLC18A3 | c.880G>A (p.Val294Met) c.-69+2421G>A (n.-69+2421G>A) | |
10 | g.49611620G>C | CA376721093 | CHAT,SLC18A3 | c.880G>C (p.Val294Leu) c.-69+2421G>C (n.-69+2421G>C) | |
10 | g.49611620G= | CA1908794316 | CHAT,SLC18A3 | c.880G= (p.Val294=) c.-69+2421G= (n.-69+2421G=) | |
10 | g.49611620G>T | CA376721094 | CHAT,SLC18A3 | c.880G>T (p.Val294Leu) c.-69+2421G>T (n.-69+2421G>T) | dbSNP gnomAD v2 |
10 | g.49611621T>A | CA376721095 | CHAT,SLC18A3 | c.881T>A (p.Val294Glu) c.-69+2422T>A (n.-69+2422T>A) | |
10 | g.49611621T>C | CA376721096 | CHAT,SLC18A3 | c.881T>C (p.Val294Ala) c.-69+2422T>C (n.-69+2422T>C) | |
10 | g.49611621T>G | CA376721097 | CHAT,SLC18A3 | c.881T>G (p.Val294Gly) c.-69+2422T>G (n.-69+2422T>G) | |
10 | g.49611622G>A | CA469791244 | CHAT,SLC18A3 | c.882G>A (p.Val294=) c.-69+2423G>A (n.-69+2423G>A) | dbSNP gnomAD v2 |
10 | g.49611622G>C | CA469791242 | CHAT,SLC18A3 | c.882G>C (p.Val294=) c.-69+2423G>C (n.-69+2423G>C) | |
10 | g.49611622G= | CA1908794326 | CHAT,SLC18A3 | c.882G= (p.Val294=) c.-69+2423G= (n.-69+2423G=) | |
10 | g.49611622G>T | CA469791243 | CHAT,SLC18A3 | c.882G>T (p.Val294=) c.-69+2423G>T (n.-69+2423G>T) | gnomAD v4 |
10 | g.49611623G>A | CA376721098 | CHAT,SLC18A3 | c.883G>A (p.Ala295Thr) c.-69+2424G>A (n.-69+2424G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611623G>C | CA376721099 | CHAT,SLC18A3 | c.883G>C (p.Ala295Pro) c.-69+2424G>C (n.-69+2424G>C) | |
10 | g.49611623G= | CA1908794332 | CHAT,SLC18A3 | c.883G= (p.Ala295=) c.-69+2424G= (n.-69+2424G=) | |
10 | g.49611623G>T | CA376721100 | CHAT,SLC18A3 | c.883G>T (p.Ala295Ser) c.-69+2424G>T (n.-69+2424G>T) | gnomAD v4 |
10 | g.49611624C>A | CA376721101 | CHAT,SLC18A3 | c.884C>A (p.Ala295Asp) c.-69+2425C>A (n.-69+2425C>A) | |
10 | g.49611624C>G | CA376721102 | CHAT,SLC18A3 | c.884C>G (p.Ala295Gly) c.-69+2425C>G (n.-69+2425C>G) | gnomAD v4 |
10 | g.49611624C>T | CA376721103 | CHAT,SLC18A3 | c.884C>T (p.Ala295Val) c.-69+2425C>T (n.-69+2425C>T) | gnomAD v4 |
10 | g.49611625C>A | CA469791246 | CHAT,SLC18A3 | c.885C>A (p.Ala295=) c.-69+2426C>A (n.-69+2426C>A) | |
10 | g.49611625C= | CA1908794342 | CHAT,SLC18A3 | c.885C= (p.Ala295=) c.-69+2426C= (n.-69+2426C=) | |
10 | g.49611625C>G | CA469791245 | CHAT,SLC18A3 | c.885C>G (p.Ala295=) c.-69+2426C>G (n.-69+2426C>G) | |
10 | g.49611625C>T | CA469791247 | CHAT,SLC18A3 | c.885C>T (p.Ala295=) c.-69+2426C>T (n.-69+2426C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611626G>A | CA376721106 | CHAT,SLC18A3 | c.886G>A (p.Gly296Ser) c.-69+2427G>A (n.-69+2427G>A) | |
10 | g.49611626G>C | CA376721104 | CHAT,SLC18A3 | c.886G>C (p.Gly296Arg) c.-69+2427G>C (n.-69+2427G>C) | |
10 | g.49611626G>T | CA376721105 | CHAT,SLC18A3 | c.886G>T (p.Gly296Cys) c.-69+2427G>T (n.-69+2427G>T) | gnomAD v4 COSMIC |
10 | g.49611627G>A | CA376721107 | CHAT,SLC18A3 | c.887G>A (p.Gly296Asp) c.-69+2428G>A (n.-69+2428G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611627G>C | CA376721108 | CHAT,SLC18A3 | c.887G>C (p.Gly296Ala) c.-69+2428G>C (n.-69+2428G>C) | |
10 | g.49611627G= | CA1908794345 | CHAT,SLC18A3 | c.887G= (p.Gly296=) c.-69+2428G= (n.-69+2428G=) | |
10 | g.49611627G>T | CA376721109 | CHAT,SLC18A3 | c.887G>T (p.Gly296Val) c.-69+2428G>T (n.-69+2428G>T) | gnomAD v4 |
10 | g.49611628C>A | CA469791249 | CHAT,SLC18A3 | c.888C>A (p.Gly296=) c.-69+2429C>A (n.-69+2429C>A) | gnomAD v4 |
10 | g.49611628C= | CA1908794347 | CHAT,SLC18A3 | c.888C= (p.Gly296=) c.-69+2429C= (n.-69+2429C=) | |
10 | g.49611628C>G | CA469791250 | CHAT,SLC18A3 | c.888C>G (p.Gly296=) c.-69+2429C>G (n.-69+2429C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611628C>T | CA5496863 | CHAT,SLC18A3 | c.888C>T (p.Gly296=) c.-69+2429C>T (n.-69+2429C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611629G>A | CA5496864 | CHAT,SLC18A3 | c.889G>A (p.Ala297Thr) c.-69+2430G>A (n.-69+2430G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611629G>C | CA376721110 | CHAT,SLC18A3 | c.889G>C (p.Ala297Pro) c.-69+2430G>C (n.-69+2430G>C) | |
10 | g.49611629G= | CA1908794352 | CHAT,SLC18A3 | c.889G= (p.Ala297=) c.-69+2430G= (n.-69+2430G=) | |
10 | g.49611629G>T | CA376721111 | CHAT,SLC18A3 | c.889G>T (p.Ala297Ser) c.-69+2430G>T (n.-69+2430G>T) | gnomAD v4 |
10 | g.49611630C>A | CA376721112 | CHAT,SLC18A3 | c.890C>A (p.Ala297Glu) c.-69+2431C>A (n.-69+2431C>A) | |
10 | g.49611630C= | CA1908794359 | CHAT,SLC18A3 | c.890C= (p.Ala297=) c.-69+2431C= (n.-69+2431C=) | |
10 | g.49611630C>G | CA376721113 | CHAT,SLC18A3 | c.890C>G (p.Ala297Gly) c.-69+2431C>G (n.-69+2431C>G) | |
10 | g.49611630C>T | CA376721114 | CHAT,SLC18A3 | c.890C>T (p.Ala297Val) c.-69+2431C>T (n.-69+2431C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611631G>A | CA469791254 | CHAT,SLC18A3 | c.891G>A (p.Ala297=) c.-69+2432G>A (n.-69+2432G>A) | dbSNP gnomAD v4 |
10 | g.49611631G>C | CA206621283 | CHAT,SLC18A3 | c.891G>C (p.Ala297=) c.-69+2432G>C (n.-69+2432G>C) | dbSNP |
10 | g.49611631G= | CA1908794364 | CHAT,SLC18A3 | c.891G= (p.Ala297=) c.-69+2432G= (n.-69+2432G=) | |
10 | g.49611631G>T | CA469791253 | CHAT,SLC18A3 | c.891G>T (p.Ala297=) c.-69+2432G>T (n.-69+2432G>T) | |
10 | g.49611632C>A | CA376721117 | CHAT,SLC18A3 | c.892C>A (p.Leu298Ile) c.-69+2433C>A (n.-69+2433C>A) | |
10 | g.49611632C>G | CA376721116 | CHAT,SLC18A3 | c.892C>G (p.Leu298Val) c.-69+2433C>G (n.-69+2433C>G) | gnomAD v4 |
10 | g.49611632C>T | CA376721115 | CHAT,SLC18A3 | c.892C>T (p.Leu298Phe) c.-69+2433C>T (n.-69+2433C>T) | |
10 | g.49611633T>A | CA376721118 | CHAT,SLC18A3 | c.893T>A (p.Leu298His) c.-69+2434T>A (n.-69+2434T>A) | |
10 | g.49611633T>C | CA376721120 | CHAT,SLC18A3 | c.893T>C (p.Leu298Pro) c.-69+2434T>C (n.-69+2434T>C) | gnomAD v4 |
10 | g.49611633T>G | CA376721119 | CHAT,SLC18A3 | c.893T>G (p.Leu298Arg) c.-69+2434T>G (n.-69+2434T>G) | gnomAD v4 |
10 | g.49611634C>A | CA469791255 | CHAT,SLC18A3 | c.894C>A (p.Leu298=) c.-69+2435C>A (n.-69+2435C>A) | |
10 | g.49611634C>G | CA469791256 | CHAT,SLC18A3 | c.894C>G (p.Leu298=) c.-69+2435C>G (n.-69+2435C>G) | |
10 | g.49611634C>T | CA469791257 | CHAT,SLC18A3 | c.894C>T (p.Leu298=) c.-69+2435C>T (n.-69+2435C>T) | COSMIC |
10 | g.49611635A= | CA1908794368 | CHAT,SLC18A3 | c.895A= (p.Thr299=) c.-69+2436A= (n.-69+2436A=) | |
10 | g.49611635A>C | CA376721121 | CHAT,SLC18A3 | c.895A>C (p.Thr299Pro) c.-69+2436A>C (n.-69+2436A>C) | dbSNP |
10 | g.49611635A>G | CA376721122 | CHAT,SLC18A3 | c.895A>G (p.Thr299Ala) c.-69+2436A>G (n.-69+2436A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611635A>T | CA5496865 | CHAT,SLC18A3 | c.895A>T (p.Thr299Ser) c.-69+2436A>T (n.-69+2436A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611636C>A | CA376721123 | CHAT,SLC18A3 | c.896C>A (p.Thr299Asn) c.-69+2437C>A (n.-69+2437C>A) | |
10 | g.49611636C>G | CA376721124 | CHAT,SLC18A3 | c.896C>G (p.Thr299Ser) c.-69+2437C>G (n.-69+2437C>G) | |
10 | g.49611636C>T | CA376721125 | CHAT,SLC18A3 | c.896C>T (p.Thr299Ile) c.-69+2437C>T (n.-69+2437C>T) | dbSNP |
10 | g.49611637C>A | CA469791262 | CHAT,SLC18A3 | c.897C>A (p.Thr299=) c.-69+2438C>A (n.-69+2438C>A) | |
10 | g.49611637C>G | CA469791261 | CHAT,SLC18A3 | c.897C>G (p.Thr299=) c.-69+2438C>G (n.-69+2438C>G) | |
10 | g.49611637C>T | CA469791263 | CHAT,SLC18A3 | c.897C>T (p.Thr299=) c.-69+2438C>T (n.-69+2438C>T) | dbSNP gnomAD v4 |
10 | g.49611638del | CA2609116541 | CHAT,SLC18A3 | c.898del (p.Thr300ProfsTer17) c.-69+2439del (n.-69+2439del) | gnomAD v4 |
10 | g.49611638A= | CA1908794383 | CHAT,SLC18A3 | c.898A= (p.Thr300=) c.-69+2439A= (n.-69+2439A=) | |
10 | g.49611638A>C | CA376721126 | CHAT,SLC18A3 | c.898A>C (p.Thr300Pro) c.-69+2439A>C (n.-69+2439A>C) | dbSNP |
10 | g.49611638A>G | CA376721127 | CHAT,SLC18A3 | c.898A>G (p.Thr300Ala) c.-69+2439A>G (n.-69+2439A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611638A>T | CA376721128 | CHAT,SLC18A3 | c.898A>T (p.Thr300Ser) c.-69+2439A>T (n.-69+2439A>T) | dbSNP |
10 | g.49611639C>A | CA376721129 | CHAT,SLC18A3 | c.899C>A (p.Thr300Asn) c.-69+2440C>A (n.-69+2440C>A) | |
10 | g.49611639C>G | CA376721130 | CHAT,SLC18A3 | c.899C>G (p.Thr300Ser) c.-69+2440C>G (n.-69+2440C>G) | |
10 | g.49611639C>T | CA376721131 | CHAT,SLC18A3 | c.899C>T (p.Thr300Ile) c.-69+2440C>T (n.-69+2440C>T) | dbSNP |
10 | g.49611640C>A | CA469791267 | CHAT,SLC18A3 | c.900C>A (p.Thr300=) c.-69+2441C>A (n.-69+2441C>A) | |
10 | g.49611640C>G | CA469791266 | CHAT,SLC18A3 | c.900C>G (p.Thr300=) c.-69+2441C>G (n.-69+2441C>G) | |
10 | g.49611640C>T | CA469791265 | CHAT,SLC18A3 | c.900C>T (p.Thr300=) c.-69+2441C>T (n.-69+2441C>T) | dbSNP |
10 | g.49611641T>A | CA376721134 | CHAT,SLC18A3 | c.901T>A (p.Cys301Ser) c.-69+2442T>A (n.-69+2442T>A) | gnomAD v4 COSMIC |
10 | g.49611641T>C | CA376721132 | CHAT,SLC18A3 | c.901T>C (p.Cys301Arg) c.-69+2442T>C (n.-69+2442T>C) | |
10 | g.49611641T>G | CA376721133 | CHAT,SLC18A3 | c.901T>G (p.Cys301Gly) c.-69+2442T>G (n.-69+2442T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611641T= | CA1908794390 | CHAT,SLC18A3 | c.901T= (p.Cys301=) c.-69+2442T= (n.-69+2442T=) | |
10 | g.49611642G>A | CA376721135 | CHAT,SLC18A3 | c.902G>A (p.Cys301Tyr) c.-69+2443G>A (n.-69+2443G>A) | gnomAD v4 |
10 | g.49611642G>C | CA376721136 | CHAT,SLC18A3 | c.902G>C (p.Cys301Ser) c.-69+2443G>C (n.-69+2443G>C) | gnomAD v4 |
10 | g.49611642G>T | CA376721137 | CHAT,SLC18A3 | c.902G>T (p.Cys301Phe) c.-69+2443G>T (n.-69+2443G>T) | gnomAD v4 |
10 | g.49611643T>A | CA376721138 | CHAT,SLC18A3 | c.903T>A (p.Cys301Ter) c.-69+2444T>A (n.-69+2444T>A) | |
10 | g.49611643T>C | CA5496866 | CHAT,SLC18A3 | c.903T>C (p.Cys301=) c.-69+2444T>C (n.-69+2444T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611643T>G | CA376721139 | CHAT,SLC18A3 | c.903T>G (p.Cys301Trp) c.-69+2444T>G (n.-69+2444T>G) | |
10 | g.49611643T= | CA1908794395 | CHAT,SLC18A3 | c.903T= (p.Cys301=) c.-69+2444T= (n.-69+2444T=) | |
10 | g.49611644A>C | CA376721140 | CHAT,SLC18A3 | c.904A>C (p.Asn302His) c.-69+2445A>C (n.-69+2445A>C) | |
10 | g.49611644A>G | CA376721141 | CHAT,SLC18A3 | c.904A>G (p.Asn302Asp) c.-69+2445A>G (n.-69+2445A>G) | |
10 | g.49611644A>T | CA376721142 | CHAT,SLC18A3 | c.904A>T (p.Asn302Tyr) c.-69+2445A>T (n.-69+2445A>T) | |
10 | g.49611645A>C | CA376721143 | CHAT,SLC18A3 | c.905A>C (p.Asn302Thr) c.-69+2446A>C (n.-69+2446A>C) | |
10 | g.49611645A>G | CA376721144 | CHAT,SLC18A3 | c.905A>G (p.Asn302Ser) c.-69+2446A>G (n.-69+2446A>G) | gnomAD v4 |
10 | g.49611645A>T | CA376721145 | CHAT,SLC18A3 | c.905A>T (p.Asn302Ile) c.-69+2446A>T (n.-69+2446A>T) | |
10 | g.49611646C>A | CA376721147 | CHAT,SLC18A3 | c.906C>A (p.Asn302Lys) c.-69+2447C>A (n.-69+2447C>A) | |
10 | g.49611646C= | CA1908794401 | CHAT,SLC18A3 | c.906C= (p.Asn302=) c.-69+2447C= (n.-69+2447C=) | |
10 | g.49611646C>G | CA376721146 | CHAT,SLC18A3 | c.906C>G (p.Asn302Lys) c.-69+2447C>G (n.-69+2447C>G) | |
10 | g.49611646C>T | CA469791274 | CHAT,SLC18A3 | c.906C>T (p.Asn302=) c.-69+2447C>T (n.-69+2447C>T) | dbSNP gnomAD v4 |
10 | g.49611647A= | CA1908794404 | CHAT,SLC18A3 | c.907A= (p.Ile303=) c.-69+2448A= (n.-69+2448A=) | |
10 | g.49611647A>C | CA376721148 | CHAT,SLC18A3 | c.907A>C (p.Ile303Leu) c.-69+2448A>C (n.-69+2448A>C) | |
10 | g.49611647A>G | CA376721149 | CHAT,SLC18A3 | c.907A>G (p.Ile303Val) c.-69+2448A>G (n.-69+2448A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611647A>T | CA376721150 | CHAT,SLC18A3 | c.907A>T (p.Ile303Phe) c.-69+2448A>T (n.-69+2448A>T) | |
10 | g.49611648T>A | CA206621290 | CHAT,SLC18A3 | c.908T>A (p.Ile303Asn) c.-69+2449T>A (n.-69+2449T>A) | dbSNP gnomAD v4 |
10 | g.49611648T>C | CA376721151 | CHAT,SLC18A3 | c.908T>C (p.Ile303Thr) c.-69+2449T>C (n.-69+2449T>C) | |
10 | g.49611648T>G | CA376721152 | CHAT,SLC18A3 | c.908T>G (p.Ile303Ser) c.-69+2449T>G (n.-69+2449T>G) | |
10 | g.49611648T= | CA1908794408 | CHAT,SLC18A3 | c.908T= (p.Ile303=) c.-69+2449T= (n.-69+2449T=) | |
10 | g.49611649T>A | CA469791278 | CHAT,SLC18A3 | c.909T>A (p.Ile303=) c.-69+2450T>A (n.-69+2450T>A) | gnomAD v4 |
10 | g.49611649T>C | CA469791277 | CHAT,SLC18A3 | c.909T>C (p.Ile303=) c.-69+2450T>C (n.-69+2450T>C) | |
10 | g.49611649T>G | CA376721153 | CHAT,SLC18A3 | c.909T>G (p.Ile303Met) c.-69+2450T>G (n.-69+2450T>G) | |
10 | g.49611650C>A | CA376721154 | CHAT,SLC18A3 | c.910C>A (p.Pro304Thr) c.-69+2451C>A (n.-69+2451C>A) | gnomAD v4 |
10 | g.49611650C= | CA1908794410 | CHAT,SLC18A3 | c.910C= (p.Pro304=) c.-69+2451C= (n.-69+2451C=) | |
10 | g.49611650C>G | CA376721155 | CHAT,SLC18A3 | c.910C>G (p.Pro304Ala) c.-69+2451C>G (n.-69+2451C>G) | |
10 | g.49611650C>T | CA5496867 | CHAT,SLC18A3 | c.910C>T (p.Pro304Ser) c.-69+2451C>T (n.-69+2451C>T) | dbSNP ExAC |
10 | g.49611651C>A | CA376721156 | CHAT,SLC18A3 | c.911C>A (p.Pro304His) c.-69+2452C>A (n.-69+2452C>A) | |
10 | g.49611651C>G | CA376721157 | CHAT,SLC18A3 | c.911C>G (p.Pro304Arg) c.-69+2452C>G (n.-69+2452C>G) | |
10 | g.49611651C>T | CA376721158 | CHAT,SLC18A3 | c.911C>T (p.Pro304Leu) c.-69+2452C>T (n.-69+2452C>T) | COSMIC |
10 | g.49611652C>A | CA469791284 | CHAT,SLC18A3 | c.912C>A (p.Pro304=) c.-69+2453C>A (n.-69+2453C>A) | |
10 | g.49611652C= | CA1908794414 | CHAT,SLC18A3 | c.912C= (p.Pro304=) c.-69+2453C= (n.-69+2453C=) | |
10 | g.49611652C>G | CA469791285 | CHAT,SLC18A3 | c.912C>G (p.Pro304=) c.-69+2453C>G (n.-69+2453C>G) | |
10 | g.49611652C>T | CA5496868 | CHAT,SLC18A3 | c.912C>T (p.Pro304=) c.-69+2453C>T (n.-69+2453C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611653C>A | CA376721161 | CHAT,SLC18A3 | c.913C>A (p.Leu305Ile) c.-69+2454C>A (n.-69+2454C>A) | |
10 | g.49611653C>G | CA376721159 | CHAT,SLC18A3 | c.913C>G (p.Leu305Val) c.-69+2454C>G (n.-69+2454C>G) | |
10 | g.49611653C>T | CA376721160 | CHAT,SLC18A3 | c.913C>T (p.Leu305Phe) c.-69+2454C>T (n.-69+2454C>T) | |
10 | g.49611654T>A | CA376721162 | CHAT,SLC18A3 | c.914T>A (p.Leu305His) c.-69+2455T>A (n.-69+2455T>A) | |
10 | g.49611654T>C | CA376721163 | CHAT,SLC18A3 | c.914T>C (p.Leu305Pro) c.-69+2455T>C (n.-69+2455T>C) | |
10 | g.49611654T>G | CA376721164 | CHAT,SLC18A3 | c.914T>G (p.Leu305Arg) c.-69+2455T>G (n.-69+2455T>G) | |
10 | g.49611655C>A | CA5496869 | CHAT,SLC18A3 | c.915C>A (p.Leu305=) c.-69+2456C>A (n.-69+2456C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611655C= | CA1908794423 | CHAT,SLC18A3 | c.915C= (p.Leu305=) c.-69+2456C= (n.-69+2456C=) | |
10 | g.49611655C>G | CA469791293 | CHAT,SLC18A3 | c.915C>G (p.Leu305=) c.-69+2456C>G (n.-69+2456C>G) | |
10 | g.49611655C>T | CA469791292 | CHAT,SLC18A3 | c.915C>T (p.Leu305=) c.-69+2456C>T (n.-69+2456C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611656G>A | CA376721165 | CHAT,SLC18A3 | c.916G>A (p.Ala306Thr) c.-69+2457G>A (n.-69+2457G>A) | dbSNP gnomAD v4 |
10 | g.49611656G>C | CA376721166 | CHAT,SLC18A3 | c.916G>C (p.Ala306Pro) c.-69+2457G>C (n.-69+2457G>C) | |
10 | g.49611656G= | CA1908794439 | CHAT,SLC18A3 | c.916G= (p.Ala306=) c.-69+2457G= (n.-69+2457G=) | |
10 | g.49611656G>T | CA206621298 | CHAT,SLC18A3 | c.916G>T (p.Ala306Ser) c.-69+2457G>T (n.-69+2457G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611657C>A | CA376721167 | CHAT,SLC18A3 | c.917C>A (p.Ala306Asp) c.-69+2458C>A (n.-69+2458C>A) | |
10 | g.49611657C>G | CA376721172 | CHAT,SLC18A3 | c.917C>G (p.Ala306Gly) c.-69+2458C>G (n.-69+2458C>G) | |
10 | g.49611657C>T | CA376721174 | CHAT,SLC18A3 | c.917C>T (p.Ala306Val) c.-69+2458C>T (n.-69+2458C>T) | |
10 | g.49611658C>A | CA469791295 | CHAT,SLC18A3 | c.918C>A (p.Ala306=) c.-69+2459C>A (n.-69+2459C>A) | |
10 | g.49611658C= | CA1908794447 | CHAT,SLC18A3 | c.918C= (p.Ala306=) c.-69+2459C= (n.-69+2459C=) | |
10 | g.49611658C>G | CA5496871 | CHAT,SLC18A3 | c.918C>G (p.Ala306=) c.-69+2459C>G (n.-69+2459C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611658C>T | CA5496870 | CHAT,SLC18A3 | c.918C>T (p.Ala306=) c.-69+2459C>T (n.-69+2459C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611659T>A | CA376721185 | CHAT,SLC18A3 | c.919T>A (p.Phe307Ile) c.-69+2460T>A (n.-69+2460T>A) | |
10 | g.49611659T>C | CA376721189 | CHAT,SLC18A3 | c.919T>C (p.Phe307Leu) c.-69+2460T>C (n.-69+2460T>C) | |
10 | g.49611659T>G | CA376721187 | CHAT,SLC18A3 | c.919T>G (p.Phe307Val) c.-69+2460T>G (n.-69+2460T>G) | |
10 | g.49611660T>A | CA376721192 | CHAT,SLC18A3 | c.920T>A (p.Phe307Tyr) c.-69+2461T>A (n.-69+2461T>A) | |
10 | g.49611660T>C | CA376721200 | CHAT,SLC18A3 | c.920T>C (p.Phe307Ser) c.-69+2461T>C (n.-69+2461T>C) | |
10 | g.49611660T>G | CA376721202 | CHAT,SLC18A3 | c.920T>G (p.Phe307Cys) c.-69+2461T>G (n.-69+2461T>G) | |
10 | g.49611661C>A | CA376721206 | CHAT,SLC18A3 | c.921C>A (p.Phe307Leu) c.-69+2462C>A (n.-69+2462C>A) | gnomAD v4 |
10 | g.49611661C= | CA1908794453 | CHAT,SLC18A3 | c.921C= (p.Phe307=) c.-69+2462C= (n.-69+2462C=) | |
10 | g.49611661C>G | CA376721208 | CHAT,SLC18A3 | c.921C>G (p.Phe307Leu) c.-69+2462C>G (n.-69+2462C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611661C>T | CA469791300 | CHAT,SLC18A3 | c.921C>T (p.Phe307=) c.-69+2462C>T (n.-69+2462C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
10 | g.49611662C>A | CA376721213 | CHAT,SLC18A3 | c.922C>A (p.Leu308Ile) c.-69+2463C>A (n.-69+2463C>A) | |
10 | g.49611662C>G | CA376721216 | CHAT,SLC18A3 | c.922C>G (p.Leu308Val) c.-69+2463C>G (n.-69+2463C>G) | |
10 | g.49611662C>T | CA376721218 | CHAT,SLC18A3 | c.922C>T (p.Leu308Phe) c.-69+2463C>T (n.-69+2463C>T) | |
10 | g.49611663T>A | CA376721222 | CHAT,SLC18A3 | c.923T>A (p.Leu308His) c.-69+2464T>A (n.-69+2464T>A) | |
10 | g.49611663T>C | CA376721224 | CHAT,SLC18A3 | c.923T>C (p.Leu308Pro) c.-69+2464T>C (n.-69+2464T>C) | |
10 | g.49611663T>G | CA376721226 | CHAT,SLC18A3 | c.923T>G (p.Leu308Arg) c.-69+2464T>G (n.-69+2464T>G) | |
10 | g.49611664C>A | CA5496872 | CHAT,SLC18A3 | c.924C>A (p.Leu308=) c.-69+2465C>A (n.-69+2465C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611664C= | CA1908794460 | CHAT,SLC18A3 | c.924C= (p.Leu308=) c.-69+2465C= (n.-69+2465C=) | |
10 | g.49611664C>G | CA469791308 | CHAT,SLC18A3 | c.924C>G (p.Leu308=) c.-69+2465C>G (n.-69+2465C>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611664C>T | CA5496873 | CHAT,SLC18A3 | c.924C>T (p.Leu308=) c.-69+2465C>T (n.-69+2465C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611665G>A | CA376721238 | CHAT,SLC18A3 | c.925G>A (p.Glu309Lys) c.-69+2466G>A (n.-69+2466G>A) | gnomAD v4 |
10 | g.49611665G>C | CA376721236 | CHAT,SLC18A3 | c.925G>C (p.Glu309Gln) c.-69+2466G>C (n.-69+2466G>C) | |
10 | g.49611665G>T | CA376721233 | CHAT,SLC18A3 | c.925G>T (p.Glu309Ter) c.-69+2466G>T (n.-69+2466G>T) | |
10 | g.49611666A>C | CA376721241 | CHAT,SLC18A3 | c.926A>C (p.Glu309Ala) c.-69+2467A>C (n.-69+2467A>C) | |
10 | g.49611666A>G | CA376721242 | CHAT,SLC18A3 | c.926A>G (p.Glu309Gly) c.-69+2467A>G (n.-69+2467A>G) | |
10 | g.49611666A>T | CA376721244 | CHAT,SLC18A3 | c.926A>T (p.Glu309Val) c.-69+2467A>T (n.-69+2467A>T) | |
10 | g.49611667A= | CA1908794468 | CHAT,SLC18A3 | c.927A= (p.Glu309=) c.-69+2468A= (n.-69+2468A=) | |
10 | g.49611667A>C | CA376721248 | CHAT,SLC18A3 | c.927A>C (p.Glu309Asp) c.-69+2468A>C (n.-69+2468A>C) | |
10 | g.49611667A>G | CA5496874 | CHAT,SLC18A3 | c.927A>G (p.Glu309=) c.-69+2468A>G (n.-69+2468A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611667A>T | CA376721251 | CHAT,SLC18A3 | c.927A>T (p.Glu309Asp) c.-69+2468A>T (n.-69+2468A>T) | |
10 | g.49611668C>A | CA376721254 | CHAT,SLC18A3 | c.928C>A (p.Pro310Thr) c.-69+2469C>A (n.-69+2469C>A) | |
10 | g.49611668C>G | CA376721256 | CHAT,SLC18A3 | c.928C>G (p.Pro310Ala) c.-69+2469C>G (n.-69+2469C>G) | |
10 | g.49611668C>T | CA376721258 | CHAT,SLC18A3 | c.928C>T (p.Pro310Ser) c.-69+2469C>T (n.-69+2469C>T) | gnomAD v4 |
10 | g.49611669C>A | CA376721260 | CHAT,SLC18A3 | c.929C>A (p.Pro310His) c.-69+2470C>A (n.-69+2470C>A) | |
10 | g.49611669C= | CA1908794474 | CHAT,SLC18A3 | c.929C= (p.Pro310=) c.-69+2470C= (n.-69+2470C=) | |
10 | g.49611669C>G | CA376721262 | CHAT,SLC18A3 | c.929C>G (p.Pro310Arg) c.-69+2470C>G (n.-69+2470C>G) | |
10 | g.49611669C>T | CA376721264 | CHAT,SLC18A3 | c.929C>T (p.Pro310Leu) c.-69+2470C>T (n.-69+2470C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611670C>A | CA469791315 | CHAT,SLC18A3 | c.930C>A (p.Pro310=) c.-69+2471C>A (n.-69+2471C>A) | gnomAD v4 |
10 | g.49611670C= | CA1908794477 | CHAT,SLC18A3 | c.930C= (p.Pro310=) c.-69+2471C= (n.-69+2471C=) | |
10 | g.49611670C>G | CA469791318 | CHAT,SLC18A3 | c.930C>G (p.Pro310=) c.-69+2471C>G (n.-69+2471C>G) | |
10 | g.49611670C>T | CA206621309 | CHAT,SLC18A3 | c.930C>T (p.Pro310=) c.-69+2471C>T (n.-69+2471C>T) | dbSNP gnomAD v4 |
10 | g.49611671A>C | CA376721272 | CHAT,SLC18A3 | c.931A>C (p.Thr311Pro) c.-69+2472A>C (n.-69+2472A>C) | |
10 | g.49611671A>G | CA376721274 | CHAT,SLC18A3 | c.931A>G (p.Thr311Ala) c.-69+2472A>G (n.-69+2472A>G) | |
10 | g.49611671A>T | CA376721270 | CHAT,SLC18A3 | c.931A>T (p.Thr311Ser) c.-69+2472A>T (n.-69+2472A>T) | |
10 | g.49611672C>A | CA376721277 | CHAT,SLC18A3 | c.932C>A (p.Thr311Asn) c.-69+2473C>A (n.-69+2473C>A) | ClinVar dbSNP gnomAD v4 |
10 | g.49611672C= | CA1908794479 | CHAT,SLC18A3 | c.932C= (p.Thr311=) c.-69+2473C= (n.-69+2473C=) | |
10 | g.49611672C>G | CA376721282 | CHAT,SLC18A3 | c.932C>G (p.Thr311Ser) c.-69+2473C>G (n.-69+2473C>G) | |
10 | g.49611672C>T | CA376721284 | CHAT,SLC18A3 | c.932C>T (p.Thr311Ile) c.-69+2473C>T (n.-69+2473C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611673C>A | CA469791323 | CHAT,SLC18A3 | c.933C>A (p.Thr311=) c.-69+2474C>A (n.-69+2474C>A) | |
10 | g.49611673C>G | CA469791321 | CHAT,SLC18A3 | c.933C>G (p.Thr311=) c.-69+2474C>G (n.-69+2474C>G) | |
10 | g.49611673C>T | CA469791322 | CHAT,SLC18A3 | c.933C>T (p.Thr311=) c.-69+2474C>T (n.-69+2474C>T) | gnomAD v4 |
10 | g.49611674A= | CA1908794485 | CHAT,SLC18A3 | c.934A= (p.Ile312=) c.-69+2475A= (n.-69+2475A=) | |
10 | g.49611674A>C | CA376721288 | CHAT,SLC18A3 | c.934A>C (p.Ile312Leu) c.-69+2475A>C (n.-69+2475A>C) | gnomAD v4 |
10 | g.49611674A>G | CA376721289 | CHAT,SLC18A3 | c.934A>G (p.Ile312Val) c.-69+2475A>G (n.-69+2475A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611674A>T | CA376721291 | CHAT,SLC18A3 | c.934A>T (p.Ile312Phe) c.-69+2475A>T (n.-69+2475A>T) | |
10 | g.49611675T>A | CA376721295 | CHAT,SLC18A3 | c.935T>A (p.Ile312Asn) c.-69+2476T>A (n.-69+2476T>A) | |
10 | g.49611675T>C | CA376721297 | CHAT,SLC18A3 | c.935T>C (p.Ile312Thr) c.-69+2476T>C (n.-69+2476T>C) | gnomAD v4 |
10 | g.49611675T>G | CA376721299 | CHAT,SLC18A3 | c.935T>G (p.Ile312Ser) c.-69+2476T>G (n.-69+2476T>G) | |
10 | g.49611676T>A | CA469791329 | CHAT,SLC18A3 | c.936T>A (p.Ile312=) c.-69+2477T>A (n.-69+2477T>A) | |
10 | g.49611676T>C | CA469791328 | CHAT,SLC18A3 | c.936T>C (p.Ile312=) c.-69+2477T>C (n.-69+2477T>C) | gnomAD v4 |
10 | g.49611676T>G | CA376721301 | CHAT,SLC18A3 | c.936T>G (p.Ile312Met) c.-69+2477T>G (n.-69+2477T>G) | |
10 | g.49611677G>A | CA376721304 | CHAT,SLC18A3 | c.937G>A (p.Ala313Thr) c.-69+2478G>A (n.-69+2478G>A) | |
10 | g.49611677G>C | CA376721306 | CHAT,SLC18A3 | c.937G>C (p.Ala313Pro) c.-69+2478G>C (n.-69+2478G>C) | |
10 | g.49611677G>T | CA376721307 | CHAT,SLC18A3 | c.937G>T (p.Ala313Ser) c.-69+2478G>T (n.-69+2478G>T) | |
10 | g.49611678C>A | CA376721310 | CHAT,SLC18A3 | c.938C>A (p.Ala313Asp) c.-69+2479C>A (n.-69+2479C>A) | |
10 | g.49611678C= | CA1908794488 | CHAT,SLC18A3 | c.938C= (p.Ala313=) c.-69+2479C= (n.-69+2479C=) | |
10 | g.49611678C>G | CA376721314 | CHAT,SLC18A3 | c.938C>G (p.Ala313Gly) c.-69+2479C>G (n.-69+2479C>G) | |
10 | g.49611678C>T | CA376721312 | CHAT,SLC18A3 | c.938C>T (p.Ala313Val) c.-69+2479C>T (n.-69+2479C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611679C>A | CA469791331 | CHAT,SLC18A3 | c.939C>A (p.Ala313=) c.-69+2480C>A (n.-69+2480C>A) | |
10 | g.49611679C>G | CA469791333 | CHAT,SLC18A3 | c.939C>G (p.Ala313=) c.-69+2480C>G (n.-69+2480C>G) | |
10 | g.49611679C>T | CA469791332 | CHAT,SLC18A3 | c.939C>T (p.Ala313=) c.-69+2480C>T (n.-69+2480C>T) | gnomAD v4 |
10 | g.49611680A>C | CA376721316 | CHAT,SLC18A3 | c.940A>C (p.Thr314Pro) c.-69+2481A>C (n.-69+2481A>C) | |
10 | g.49611680A>G | CA376721318 | CHAT,SLC18A3 | c.940A>G (p.Thr314Ala) c.-69+2481A>G (n.-69+2481A>G) | |
10 | g.49611680A>T | CA376721320 | CHAT,SLC18A3 | c.940A>T (p.Thr314Ser) c.-69+2481A>T (n.-69+2481A>T) | |
10 | g.49611681C>A | CA5496875 | CHAT,SLC18A3 | c.941C>A (p.Thr314Lys) c.-69+2482C>A (n.-69+2482C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611681C= | CA1908794491 | CHAT,SLC18A3 | c.941C= (p.Thr314=) c.-69+2482C= (n.-69+2482C=) | |
10 | g.49611681C>G | CA376721325 | CHAT,SLC18A3 | c.941C>G (p.Thr314Arg) c.-69+2482C>G (n.-69+2482C>G) | |
10 | g.49611681C>T | CA376721327 | CHAT,SLC18A3 | c.941C>T (p.Thr314Met) c.-69+2482C>T (n.-69+2482C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611682G>A | CA5496876 | CHAT,SLC18A3 | c.942G>A (p.Thr314=) c.-69+2483G>A (n.-69+2483G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611682G>C | CA469791340 | CHAT,SLC18A3 | c.942G>C (p.Thr314=) c.-69+2483G>C (n.-69+2483G>C) | |
10 | g.49611682G= | CA1908794499 | CHAT,SLC18A3 | c.942G= (p.Thr314=) c.-69+2483G= (n.-69+2483G=) | |
10 | g.49611682G>T | CA469791338 | CHAT,SLC18A3 | c.942G>T (p.Thr314=) c.-69+2483G>T (n.-69+2483G>T) | gnomAD v4 |
10 | g.49611683T>A | CA376721332 | CHAT,SLC18A3 | c.943T>A (p.Trp315Arg) c.-69+2484T>A (n.-69+2484T>A) | |
10 | g.49611683T>C | CA376721336 | CHAT,SLC18A3 | c.943T>C (p.Trp315Arg) c.-69+2484T>C (n.-69+2484T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611683T>G | CA5496877 | CHAT,SLC18A3 | c.943T>G (p.Trp315Gly) c.-69+2484T>G (n.-69+2484T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611683T= | CA1908794501 | CHAT,SLC18A3 | c.943T= (p.Trp315=) c.-69+2484T= (n.-69+2484T=) | |
10 | g.49611685_49611688del | CA2609116660 | CHAT,SLC18A3 | c.945_948del (p.Trp315Ter) c.-69+2486_-69+2489del (n.-69+2486_-69+2489del) | gnomAD v4 |
10 | g.49611684G>A | CA376721342 | CHAT,SLC18A3 | c.944G>A (p.Trp315Ter) c.-69+2485G>A (n.-69+2485G>A) | COSMIC |
10 | g.49611684G>C | CA376721344 | CHAT,SLC18A3 | c.944G>C (p.Trp315Ser) c.-69+2485G>C (n.-69+2485G>C) | |
10 | g.49611684G>T | CA376721340 | CHAT,SLC18A3 | c.944G>T (p.Trp315Leu) c.-69+2485G>T (n.-69+2485G>T) | gnomAD v4 |
10 | g.49611685G>A | CA376721353 | CHAT,SLC18A3 | c.945G>A (p.Trp315Ter) c.-69+2486G>A (n.-69+2486G>A) | ClinVar dbSNP gnomAD v4 |
10 | g.49611685G>C | CA376721347 | CHAT,SLC18A3 | c.945G>C (p.Trp315Cys) c.-69+2486G>C (n.-69+2486G>C) | |
10 | g.49611685G= | CA1908794504 | CHAT,SLC18A3 | c.945G= (p.Trp315=) c.-69+2486G= (n.-69+2486G=) | |
10 | g.49611685G>T | CA376721350 | CHAT,SLC18A3 | c.945G>T (p.Trp315Cys) c.-69+2486G>T (n.-69+2486G>T) | |
10 | g.49611686A= | CA1908794509 | CHAT,SLC18A3 | c.946A= (p.Met316=) c.-69+2487A= (n.-69+2487A=) | |
10 | g.49611686A>C | CA376721356 | CHAT,SLC18A3 | c.946A>C (p.Met316Leu) c.-69+2487A>C (n.-69+2487A>C) | |
10 | g.49611686A>G | CA376721358 | CHAT,SLC18A3 | c.946A>G (p.Met316Val) c.-69+2487A>G (n.-69+2487A>G) | |
10 | g.49611686A>T | CA5496878 | CHAT,SLC18A3 | c.946A>T (p.Met316Leu) c.-69+2487A>T (n.-69+2487A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611687T>A | CA376721366 | CHAT,SLC18A3 | c.947T>A (p.Met316Lys) c.-69+2488T>A (n.-69+2488T>A) | |
10 | g.49611687T>C | CA376721363 | CHAT,SLC18A3 | c.947T>C (p.Met316Thr) c.-69+2488T>C (n.-69+2488T>C) | |
10 | g.49611687T>G | CA376721362 | CHAT,SLC18A3 | c.947T>G (p.Met316Arg) c.-69+2488T>G (n.-69+2488T>G) | |
10 | g.49611688G>A | CA376721369 | CHAT,SLC18A3 | c.948G>A (p.Met316Ile) c.-69+2489G>A (n.-69+2489G>A) | |
10 | g.49611688G>C | CA376721370 | CHAT,SLC18A3 | c.948G>C (p.Met316Ile) c.-69+2489G>C (n.-69+2489G>C) | |
10 | g.49611688G>T | CA376721371 | CHAT,SLC18A3 | c.948G>T (p.Met316Ile) c.-69+2489G>T (n.-69+2489G>T) | gnomAD v4 |
10 | g.49611689A>C | CA376721375 | CHAT,SLC18A3 | c.949A>C (p.Lys317Gln) c.-69+2490A>C (n.-69+2490A>C) | ClinVar |
10 | g.49611689A>G | CA376721377 | CHAT,SLC18A3 | c.949A>G (p.Lys317Glu) c.-69+2490A>G (n.-69+2490A>G) | |
10 | g.49611689A>T | CA376721379 | CHAT,SLC18A3 | c.949A>T (p.Lys317Ter) c.-69+2490A>T (n.-69+2490A>T) | |
10 | g.49611690A>C | CA376721387 | CHAT,SLC18A3 | c.950A>C (p.Lys317Thr) c.-69+2491A>C (n.-69+2491A>C) | |
10 | g.49611690A>G | CA376721382 | CHAT,SLC18A3 | c.950A>G (p.Lys317Arg) c.-69+2491A>G (n.-69+2491A>G) | |
10 | g.49611690A>T | CA376721385 | CHAT,SLC18A3 | c.950A>T (p.Lys317Met) c.-69+2491A>T (n.-69+2491A>T) | |
10 | g.49611691G>A | CA469791355 | CHAT,SLC18A3 | c.951G>A (p.Lys317=) c.-69+2492G>A (n.-69+2492G>A) | gnomAD v4 |
10 | g.49611691G>C | CA376721390 | CHAT,SLC18A3 | c.951G>C (p.Lys317Asn) c.-69+2492G>C (n.-69+2492G>C) | |
10 | g.49611691G= | CA1908794513 | CHAT,SLC18A3 | c.951G= (p.Lys317=) c.-69+2492G= (n.-69+2492G=) | |
10 | g.49611691G>T | CA376721391 | CHAT,SLC18A3 | c.951G>T (p.Lys317Asn) c.-69+2492G>T (n.-69+2492G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611692C>A | CA376721395 | CHAT,SLC18A3 | c.952C>A (p.His318Asn) c.-69+2493C>A (n.-69+2493C>A) | |
10 | g.49611692C>G | CA376721397 | CHAT,SLC18A3 | c.952C>G (p.His318Asp) c.-69+2493C>G (n.-69+2493C>G) | |
10 | g.49611692C>T | CA376721400 | CHAT,SLC18A3 | c.952C>T (p.His318Tyr) c.-69+2493C>T (n.-69+2493C>T) | gnomAD v4 |
10 | g.49611693A>C | CA376721402 | CHAT,SLC18A3 | c.953A>C (p.His318Pro) c.-69+2494A>C (n.-69+2494A>C) | |
10 | g.49611693A>G | CA376721404 | CHAT,SLC18A3 | c.953A>G (p.His318Arg) c.-69+2494A>G (n.-69+2494A>G) | |
10 | g.49611693A>T | CA376721407 | CHAT,SLC18A3 | c.953A>T (p.His318Leu) c.-69+2494A>T (n.-69+2494A>T) | |
10 | g.49611694T>A | CA376721410 | CHAT,SLC18A3 | c.954T>A (p.His318Gln) c.-69+2495T>A (n.-69+2495T>A) | |
10 | g.49611694T>C | CA469791359 | CHAT,SLC18A3 | c.954T>C (p.His318=) c.-69+2495T>C (n.-69+2495T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611694T>G | CA376721412 | CHAT,SLC18A3 | c.954T>G (p.His318Gln) c.-69+2495T>G (n.-69+2495T>G) | |
10 | g.49611694T= | CA1908794521 | CHAT,SLC18A3 | c.954T= (p.His318=) c.-69+2495T= (n.-69+2495T=) | |
10 | g.49611695A>C | CA376721415 | CHAT,SLC18A3 | c.955A>C (p.Thr319Pro) c.-69+2496A>C (n.-69+2496A>C) | |
10 | g.49611695A>G | CA376721417 | CHAT,SLC18A3 | c.955A>G (p.Thr319Ala) c.-69+2496A>G (n.-69+2496A>G) | |
10 | g.49611695A>T | CA376721420 | CHAT,SLC18A3 | c.955A>T (p.Thr319Ser) c.-69+2496A>T (n.-69+2496A>T) | |
10 | g.49611696C>A | CA5496879 | CHAT,SLC18A3 | c.956C>A (p.Thr319Lys) c.-69+2497C>A (n.-69+2497C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611696C= | CA1908794528 | CHAT,SLC18A3 | c.956C= (p.Thr319=) c.-69+2497C= (n.-69+2497C=) | |
10 | g.49611696C>G | CA5496880 | CHAT,SLC18A3 | c.956C>G (p.Thr319Arg) c.-69+2497C>G (n.-69+2497C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611696C>T | CA376721425 | CHAT,SLC18A3 | c.956C>T (p.Thr319Met) c.-69+2497C>T (n.-69+2497C>T) | gnomAD v4 COSMIC |
10 | g.49611697G>A | CA5496881 | CHAT,SLC18A3 | c.957G>A (p.Thr319=) c.-69+2498G>A (n.-69+2498G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611697G>C | CA469791366 | CHAT,SLC18A3 | c.957G>C (p.Thr319=) c.-69+2498G>C (n.-69+2498G>C) | gnomAD v4 |
10 | g.49611697G= | CA1908794535 | CHAT,SLC18A3 | c.957G= (p.Thr319=) c.-69+2498G= (n.-69+2498G=) | |
10 | g.49611697G>T | CA469791365 | CHAT,SLC18A3 | c.957G>T (p.Thr319=) c.-69+2498G>T (n.-69+2498G>T) | gnomAD v4 |