Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611544G>A | CA469791105 | CHAT,SLC18A3 | c.804G>A (p.Ala268=) c.-69+2345G>A (n.-69+2345G>A) | gnomAD v4 |
10 | g.49611544G>C | CA469791106 | CHAT,SLC18A3 | c.804G>C (p.Ala268=) c.-69+2345G>C (n.-69+2345G>C) | |
10 | g.49611544G= | CA1908794101 | CHAT,SLC18A3 | c.804G= (p.Ala268=) c.-69+2345G= (n.-69+2345G=) | |
10 | g.49611544G>T | CA469791107 | CHAT,SLC18A3 | c.804G>T (p.Ala268=) c.-69+2345G>T (n.-69+2345G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611545G>A | CA376720852 | CHAT,SLC18A3 | c.805G>A (p.Ala269Thr) c.-69+2346G>A (n.-69+2346G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611545G>C | CA376720853 | CHAT,SLC18A3 | c.805G>C (p.Ala269Pro) c.-69+2346G>C (n.-69+2346G>C) | |
10 | g.49611545G= | CA1908794105 | CHAT,SLC18A3 | c.805G= (p.Ala269=) c.-69+2346G= (n.-69+2346G=) | |
10 | g.49611545G>T | CA376720855 | CHAT,SLC18A3 | c.805G>T (p.Ala269Ser) c.-69+2346G>T (n.-69+2346G>T) | dbSNP gnomAD v4 |
10 | g.49611547_49611549del | CA2574545131 | CHAT,SLC18A3 | c.807_809del (p.Ala270del) c.-69+2348_-69+2350del (n.-69+2348_-69+2350del) | |
10 | g.49611546C>A | CA376720860 | CHAT,SLC18A3 | c.806C>A (p.Ala269Asp) c.-69+2347C>A (n.-69+2347C>A) | |
10 | g.49611546C>G | CA376720862 | CHAT,SLC18A3 | c.806C>G (p.Ala269Gly) c.-69+2347C>G (n.-69+2347C>G) | dbSNP |
10 | g.49611546C>T | CA376720857 | CHAT,SLC18A3 | c.806C>T (p.Ala269Val) c.-69+2347C>T (n.-69+2347C>T) | gnomAD v4 |
10 | g.49611547T>A | CA469791111 | CHAT,SLC18A3 | c.807T>A (p.Ala269=) c.-69+2348T>A (n.-69+2348T>A) | |
10 | g.49611547T>C | CA469791112 | CHAT,SLC18A3 | c.807T>C (p.Ala269=) c.-69+2348T>C (n.-69+2348T>C) | |
10 | g.49611547T>G | CA469791113 | CHAT,SLC18A3 | c.807T>G (p.Ala269=) c.-69+2348T>G (n.-69+2348T>G) | |
10 | g.49611548G>A | CA376720869 | CHAT,SLC18A3 | c.808G>A (p.Ala270Thr) c.-69+2349G>A (n.-69+2349G>A) | gnomAD v4 |
10 | g.49611548G>C | CA376720865 | CHAT,SLC18A3 | c.808G>C (p.Ala270Pro) c.-69+2349G>C (n.-69+2349G>C) | |
10 | g.49611548G>T | CA376720867 | CHAT,SLC18A3 | c.808G>T (p.Ala270Ser) c.-69+2349G>T (n.-69+2349G>T) | gnomAD v4 |
10 | g.49611549C>A | CA376720871 | CHAT,SLC18A3 | c.809C>A (p.Ala270Glu) c.-69+2350C>A (n.-69+2350C>A) | |
10 | g.49611549C>G | CA376720873 | CHAT,SLC18A3 | c.809C>G (p.Ala270Gly) c.-69+2350C>G (n.-69+2350C>G) | |
10 | g.49611549C>T | CA376720876 | CHAT,SLC18A3 | c.809C>T (p.Ala270Val) c.-69+2350C>T (n.-69+2350C>T) | gnomAD v4 |
10 | g.49611550A>C | CA469791118 | CHAT,SLC18A3 | c.810A>C (p.Ala270=) c.-69+2351A>C (n.-69+2351A>C) | |
10 | g.49611550A>G | CA469791120 | CHAT,SLC18A3 | c.810A>G (p.Ala270=) c.-69+2351A>G (n.-69+2351A>G) | gnomAD v4 |
10 | g.49611550A>T | CA469791116 | CHAT,SLC18A3 | c.810A>T (p.Ala270=) c.-69+2351A>T (n.-69+2351A>T) | |
10 | g.49611551C>A | CA469791123 | CHAT,SLC18A3 | c.811C>A (p.Arg271=) c.-69+2352C>A (n.-69+2352C>A) | ClinVar |
10 | g.49611551C= | CA1908794111 | CHAT,SLC18A3 | c.811C= (p.Arg271=) c.-69+2352C= (n.-69+2352C=) | |
10 | g.49611551C>G | CA376720878 | CHAT,SLC18A3 | c.811C>G (p.Arg271Gly) c.-69+2352C>G (n.-69+2352C>G) | |
10 | g.49611551C>T | CA206621223 | CHAT,SLC18A3 | c.811C>T (p.Arg271Trp) c.-69+2352C>T (n.-69+2352C>T) | dbSNP gnomAD v4 |
10 | g.49611551_49611552delinsCG | CA1908794112 | CHAT,SLC18A3 | c.811_812delinsCG (p.Arg271=) c.-69+2352_-69+2353delinsCG (n.-69+2352_-69+2353delinsCG) | |
10 | g.49611552G>A | CA376720881 | CHAT,SLC18A3 | c.812G>A (p.Arg271Gln) c.-69+2353G>A (n.-69+2353G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611552G>C | CA376720884 | CHAT,SLC18A3 | c.812G>C (p.Arg271Pro) c.-69+2353G>C (n.-69+2353G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611552G= | CA1908794119 | CHAT,SLC18A3 | c.812G= (p.Arg271=) c.-69+2353G= (n.-69+2353G=) | |
10 | g.49611552G>T | CA376720886 | CHAT,SLC18A3 | c.812G>T (p.Arg271Leu) c.-69+2353G>T (n.-69+2353G>T) | gnomAD v4 |
10 | g.49611554del | CA5496844 | CHAT,SLC18A3 | c.814del (p.Ala272LeufsTer16) c.-69+2355del (n.-69+2355del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611553G>A | CA5496845 | CHAT,SLC18A3 | c.813G>A (p.Arg271=) c.-69+2354G>A (n.-69+2354G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611553G>C | CA469791129 | CHAT,SLC18A3 | c.813G>C (p.Arg271=) c.-69+2354G>C (n.-69+2354G>C) | |
10 | g.49611553G= | CA1908794124 | CHAT,SLC18A3 | c.813G= (p.Arg271=) c.-69+2354G= (n.-69+2354G=) | |
10 | g.49611553G>T | CA469791128 | CHAT,SLC18A3 | c.813G>T (p.Arg271=) c.-69+2354G>T (n.-69+2354G>T) | gnomAD v4 |
10 | g.49611554G>A | CA376720896 | CHAT,SLC18A3 | c.814G>A (p.Ala272Thr) c.-69+2355G>A (n.-69+2355G>A) | gnomAD v4 |
10 | g.49611554G>C | CA376720892 | CHAT,SLC18A3 | c.814G>C (p.Ala272Pro) c.-69+2355G>C (n.-69+2355G>C) | |
10 | g.49611554G= | CA1908794125 | CHAT,SLC18A3 | c.814G= (p.Ala272=) c.-69+2355G= (n.-69+2355G=) | |
10 | g.49611554G>T | CA376720894 | CHAT,SLC18A3 | c.814G>T (p.Ala272Ser) c.-69+2355G>T (n.-69+2355G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611555C>A | CA376720899 | CHAT,SLC18A3 | c.815C>A (p.Ala272Asp) c.-69+2356C>A (n.-69+2356C>A) | |
10 | g.49611555C>G | CA376720901 | CHAT,SLC18A3 | c.815C>G (p.Ala272Gly) c.-69+2356C>G (n.-69+2356C>G) | |
10 | g.49611555C>T | CA376720903 | CHAT,SLC18A3 | c.815C>T (p.Ala272Val) c.-69+2356C>T (n.-69+2356C>T) | |
10 | g.49611556T>A | CA469791134 | CHAT,SLC18A3 | c.816T>A (p.Ala272=) c.-69+2357T>A (n.-69+2357T>A) | ClinVar dbSNP |
10 | g.49611556T>C | CA469791137 | CHAT,SLC18A3 | c.816T>C (p.Ala272=) c.-69+2357T>C (n.-69+2357T>C) | |
10 | g.49611556T>G | CA469791136 | CHAT,SLC18A3 | c.816T>G (p.Ala272=) c.-69+2357T>G (n.-69+2357T>G) | |
10 | g.49611557C>A | CA5496846 | CHAT,SLC18A3 | c.817C>A (p.Arg273=) c.-69+2358C>A (n.-69+2358C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611557C= | CA1908794129 | CHAT,SLC18A3 | c.817C= (p.Arg273=) c.-69+2358C= (n.-69+2358C=) | |
10 | g.49611557C>G | CA376720906 | CHAT,SLC18A3 | c.817C>G (p.Arg273Gly) c.-69+2358C>G (n.-69+2358C>G) | |
10 | g.49611557C>T | CA376720908 | CHAT,SLC18A3 | c.817C>T (p.Arg273Trp) c.-69+2358C>T (n.-69+2358C>T) | dbSNP |
10 | g.49611558G>A | CA376720911 | CHAT,SLC18A3 | c.818G>A (p.Arg273Gln) c.-69+2359G>A (n.-69+2359G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611558G>C | CA376720913 | CHAT,SLC18A3 | c.818G>C (p.Arg273Pro) c.-69+2359G>C (n.-69+2359G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611558G= | CA1908794139 | CHAT,SLC18A3 | c.818G= (p.Arg273=) c.-69+2359G= (n.-69+2359G=) | |
10 | g.49611558G>T | CA376720915 | CHAT,SLC18A3 | c.818G>T (p.Arg273Leu) c.-69+2359G>T (n.-69+2359G>T) | gnomAD v4 |
10 | g.49611559G>A | CA469791142 | CHAT,SLC18A3 | c.819G>A (p.Arg273=) c.-69+2360G>A (n.-69+2360G>A) | |
10 | g.49611559G>C | CA469791143 | CHAT,SLC18A3 | c.819G>C (p.Arg273=) c.-69+2360G>C (n.-69+2360G>C) | ClinVar |
10 | g.49611559G>T | CA469791141 | CHAT,SLC18A3 | c.819G>T (p.Arg273=) c.-69+2360G>T (n.-69+2360G>T) | gnomAD v4 |
10 | g.49611560G>A | CA376720918 | CHAT,SLC18A3 | c.820G>A (p.Ala274Thr) c.-69+2361G>A (n.-69+2361G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.49611560G>C | CA376720919 | CHAT,SLC18A3 | c.820G>C (p.Ala274Pro) c.-69+2361G>C (n.-69+2361G>C) | |
10 | g.49611560G= | CA1908794146 | CHAT,SLC18A3 | c.820G= (p.Ala274=) c.-69+2361G= (n.-69+2361G=) | |
10 | g.49611560G>T | CA376720922 | CHAT,SLC18A3 | c.820G>T (p.Ala274Ser) c.-69+2361G>T (n.-69+2361G>T) | gnomAD v4 |
10 | g.49611561C>A | CA376720926 | CHAT,SLC18A3 | c.821C>A (p.Ala274Asp) c.-69+2362C>A (n.-69+2362C>A) | dbSNP gnomAD v4 |
10 | g.49611561C>G | CA376720929 | CHAT,SLC18A3 | c.821C>G (p.Ala274Gly) c.-69+2362C>G (n.-69+2362C>G) | |
10 | g.49611561C>T | CA376720924 | CHAT,SLC18A3 | c.821C>T (p.Ala274Val) c.-69+2362C>T (n.-69+2362C>T) | gnomAD v4 |
10 | g.49611562C>A | CA469791150 | CHAT,SLC18A3 | c.822C>A (p.Ala274=) c.-69+2363C>A (n.-69+2363C>A) | gnomAD v4 |
10 | g.49611562C= | CA1908794151 | CHAT,SLC18A3 | c.822C= (p.Ala274=) c.-69+2363C= (n.-69+2363C=) | |
10 | g.49611562C>G | CA469791152 | CHAT,SLC18A3 | c.822C>G (p.Ala274=) c.-69+2363C>G (n.-69+2363C>G) | |
10 | g.49611562C>T | CA469791148 | CHAT,SLC18A3 | c.822C>T (p.Ala274=) c.-69+2363C>T (n.-69+2363C>T) | dbSNP gnomAD v2 |
10 | g.49611563A= | CA1908794157 | CHAT,SLC18A3 | c.823A= (p.Asn275=) c.-69+2364A= (n.-69+2364A=) | |
10 | g.49611563A>C | CA376720932 | CHAT,SLC18A3 | c.823A>C (p.Asn275His) c.-69+2364A>C (n.-69+2364A>C) | |
10 | g.49611563A>G | CA5496847 | CHAT,SLC18A3 | c.823A>G (p.Asn275Asp) c.-69+2364A>G (n.-69+2364A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611563A>T | CA376720934 | CHAT,SLC18A3 | c.823A>T (p.Asn275Tyr) c.-69+2364A>T (n.-69+2364A>T) | |
10 | g.49611564A= | CA1908794162 | CHAT,SLC18A3 | c.824A= (p.Asn275=) c.-69+2365A= (n.-69+2365A=) | |
10 | g.49611564A>C | CA376720937 | CHAT,SLC18A3 | c.824A>C (p.Asn275Thr) c.-69+2365A>C (n.-69+2365A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611564A>G | CA376720940 | CHAT,SLC18A3 | c.824A>G (p.Asn275Ser) c.-69+2365A>G (n.-69+2365A>G) | gnomAD v4 |
10 | g.49611564A>T | CA376720942 | CHAT,SLC18A3 | c.824A>T (p.Asn275Ile) c.-69+2365A>T (n.-69+2365A>T) | |
10 | g.49611565C>A | CA376720947 | CHAT,SLC18A3 | c.825C>A (p.Asn275Lys) c.-69+2366C>A (n.-69+2366C>A) | |
10 | g.49611565C= | CA1908794173 | CHAT,SLC18A3 | c.825C= (p.Asn275=) c.-69+2366C= (n.-69+2366C=) | |
10 | g.49611565C>G | CA376720944 | CHAT,SLC18A3 | c.825C>G (p.Asn275Lys) c.-69+2366C>G (n.-69+2366C>G) | |
10 | g.49611565C>T | CA5496848 | CHAT,SLC18A3 | c.825C>T (p.Asn275=) c.-69+2366C>T (n.-69+2366C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611566C>A | CA376720951 | CHAT,SLC18A3 | c.826C>A (p.Leu276Met) c.-69+2367C>A (n.-69+2367C>A) | |
10 | g.49611566C>G | CA376720952 | CHAT,SLC18A3 | c.826C>G (p.Leu276Val) c.-69+2367C>G (n.-69+2367C>G) | |
10 | g.49611566C>T | CA469791156 | CHAT,SLC18A3 | c.826C>T (p.Leu276=) c.-69+2367C>T (n.-69+2367C>T) | COSMIC |
10 | g.49611567T>A | CA376720955 | CHAT,SLC18A3 | c.827T>A (p.Leu276Gln) c.-69+2368T>A (n.-69+2368T>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611567T>C | CA376720957 | CHAT,SLC18A3 | c.827T>C (p.Leu276Pro) c.-69+2368T>C (n.-69+2368T>C) | |
10 | g.49611567T>G | CA376720958 | CHAT,SLC18A3 | c.827T>G (p.Leu276Arg) c.-69+2368T>G (n.-69+2368T>G) | |
10 | g.49611567T= | CA1908794178 | CHAT,SLC18A3 | c.827T= (p.Leu276=) c.-69+2368T= (n.-69+2368T=) | |
10 | g.49611568G>A | CA469791161 | CHAT,SLC18A3 | c.828G>A (p.Leu276=) c.-69+2369G>A (n.-69+2369G>A) | gnomAD v4 COSMIC |
10 | g.49611568G>C | CA469791162 | CHAT,SLC18A3 | c.828G>C (p.Leu276=) c.-69+2369G>C (n.-69+2369G>C) | |
10 | g.49611568G>T | CA469791163 | CHAT,SLC18A3 | c.828G>T (p.Leu276=) c.-69+2369G>T (n.-69+2369G>T) | gnomAD v4 |
10 | g.49611569C>A | CA376720962 | CHAT,SLC18A3 | c.829C>A (p.Pro277Thr) c.-69+2370C>A (n.-69+2370C>A) | gnomAD v4 |
10 | g.49611569C= | CA1908794183 | CHAT,SLC18A3 | c.829C= (p.Pro277=) c.-69+2370C= (n.-69+2370C=) | |
10 | g.49611569C>G | CA376720966 | CHAT,SLC18A3 | c.829C>G (p.Pro277Ala) c.-69+2370C>G (n.-69+2370C>G) | gnomAD v4 |
10 | g.49611569C>T | CA376720964 | CHAT,SLC18A3 | c.829C>T (p.Pro277Ser) c.-69+2370C>T (n.-69+2370C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611570C>A | CA376720968 | CHAT,SLC18A3 | c.830C>A (p.Pro277Gln) c.-69+2371C>A (n.-69+2371C>A) | |
10 | g.49611570C>G | CA376720971 | CHAT,SLC18A3 | c.830C>G (p.Pro277Arg) c.-69+2371C>G (n.-69+2371C>G) | |
10 | g.49611570C>T | CA376720972 | CHAT,SLC18A3 | c.830C>T (p.Pro277Leu) c.-69+2371C>T (n.-69+2371C>T) | |
10 | g.49611571A= | CA1908794185 | CHAT,SLC18A3 | c.831A= (p.Pro277=) c.-69+2372A= (n.-69+2372A=) | |
10 | g.49611571A>C | CA469791167 | CHAT,SLC18A3 | c.831A>C (p.Pro277=) c.-69+2372A>C (n.-69+2372A>C) | |
10 | g.49611571A>G | CA469791169 | CHAT,SLC18A3 | c.831A>G (p.Pro277=) c.-69+2372A>G (n.-69+2372A>G) | dbSNP |
10 | g.49611571A>T | CA469791165 | CHAT,SLC18A3 | c.831A>T (p.Pro277=) c.-69+2372A>T (n.-69+2372A>T) | |
10 | g.49611572G>A | CA376720975 | CHAT,SLC18A3 | c.832G>A (p.Val278Met) c.-69+2373G>A (n.-69+2373G>A) | gnomAD v4 |
10 | g.49611572G>C | CA376720977 | CHAT,SLC18A3 | c.832G>C (p.Val278Leu) c.-69+2373G>C (n.-69+2373G>C) | |
10 | g.49611572G>T | CA376720979 | CHAT,SLC18A3 | c.832G>T (p.Val278Leu) c.-69+2373G>T (n.-69+2373G>T) | gnomAD v4 |
10 | g.49611573T>A | CA376720982 | CHAT,SLC18A3 | c.833T>A (p.Val278Glu) c.-69+2374T>A (n.-69+2374T>A) | |
10 | g.49611573T>C | CA376720984 | CHAT,SLC18A3 | c.833T>C (p.Val278Ala) c.-69+2374T>C (n.-69+2374T>C) | gnomAD v4 |
10 | g.49611573T>G | CA376720986 | CHAT,SLC18A3 | c.833T>G (p.Val278Gly) c.-69+2374T>G (n.-69+2374T>G) | |
10 | g.49611574G>A | CA469791173 | CHAT,SLC18A3 | c.834G>A (p.Val278=) c.-69+2375G>A (n.-69+2375G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611574G>C | CA469791175 | CHAT,SLC18A3 | c.834G>C (p.Val278=) c.-69+2375G>C (n.-69+2375G>C) | |
10 | g.49611574G= | CA1908794188 | CHAT,SLC18A3 | c.834G= (p.Val278=) c.-69+2375G= (n.-69+2375G=) | |
10 | g.49611574G>T | CA469791174 | CHAT,SLC18A3 | c.834G>T (p.Val278=) c.-69+2375G>T (n.-69+2375G>T) | gnomAD v4 |
10 | g.49611575G>A | CA206621235 | CHAT,SLC18A3 | c.835G>A (p.Gly279Ser) c.-69+2376G>A (n.-69+2376G>A) | dbSNP gnomAD v2 |
10 | g.49611575G>C | CA376720989 | CHAT,SLC18A3 | c.835G>C (p.Gly279Arg) c.-69+2376G>C (n.-69+2376G>C) | COSMIC |
10 | g.49611575G= | CA1908794203 | CHAT,SLC18A3 | c.835G= (p.Gly279=) c.-69+2376G= (n.-69+2376G=) | |
10 | g.49611575G>T | CA376720992 | CHAT,SLC18A3 | c.835G>T (p.Gly279Cys) c.-69+2376G>T (n.-69+2376G>T) | gnomAD v4 |
10 | g.49611576G>A | CA5496849 | CHAT,SLC18A3 | c.836G>A (p.Gly279Asp) c.-69+2377G>A (n.-69+2377G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611576G>C | CA376720998 | CHAT,SLC18A3 | c.836G>C (p.Gly279Ala) c.-69+2377G>C (n.-69+2377G>C) | |
10 | g.49611576G= | CA1908794211 | CHAT,SLC18A3 | c.836G= (p.Gly279=) c.-69+2377G= (n.-69+2377G=) | |
10 | g.49611576G>T | CA376720996 | CHAT,SLC18A3 | c.836G>T (p.Gly279Val) c.-69+2377G>T (n.-69+2377G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611577C>A | CA469791182 | CHAT,SLC18A3 | c.837C>A (p.Gly279=) c.-69+2378C>A (n.-69+2378C>A) | |
10 | g.49611577C= | CA1908794218 | CHAT,SLC18A3 | c.837C= (p.Gly279=) c.-69+2378C= (n.-69+2378C=) | |
10 | g.49611577C>G | CA469791179 | CHAT,SLC18A3 | c.837C>G (p.Gly279=) c.-69+2378C>G (n.-69+2378C>G) | |
10 | g.49611577C>T | CA469791181 | CHAT,SLC18A3 | c.837C>T (p.Gly279=) c.-69+2378C>T (n.-69+2378C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611578A>C | CA376721001 | CHAT,SLC18A3 | c.838A>C (p.Thr280Pro) c.-69+2379A>C (n.-69+2379A>C) | |
10 | g.49611578A>G | CA376721006 | CHAT,SLC18A3 | c.838A>G (p.Thr280Ala) c.-69+2379A>G (n.-69+2379A>G) | |
10 | g.49611578A>T | CA376721003 | CHAT,SLC18A3 | c.838A>T (p.Thr280Ser) c.-69+2379A>T (n.-69+2379A>T) | |
10 | g.49611579C>A | CA376721008 | CHAT,SLC18A3 | c.839C>A (p.Thr280Asn) c.-69+2380C>A (n.-69+2380C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611579C= | CA1908794221 | CHAT,SLC18A3 | c.839C= (p.Thr280=) c.-69+2380C= (n.-69+2380C=) | |
10 | g.49611579C>G | CA376721012 | CHAT,SLC18A3 | c.839C>G (p.Thr280Ser) c.-69+2380C>G (n.-69+2380C>G) | gnomAD v4 |
10 | g.49611579C>T | CA376721010 | CHAT,SLC18A3 | c.839C>T (p.Thr280Ile) c.-69+2380C>T (n.-69+2380C>T) | gnomAD v4 |
10 | g.49611580T>A | CA469791187 | CHAT,SLC18A3 | c.840T>A (p.Thr280=) c.-69+2381T>A (n.-69+2381T>A) | ClinVar |
10 | g.49611580T>C | CA469791183 | CHAT,SLC18A3 | c.840T>C (p.Thr280=) c.-69+2381T>C (n.-69+2381T>C) | |
10 | g.49611580T>G | CA469791184 | CHAT,SLC18A3 | c.840T>G (p.Thr280=) c.-69+2381T>G (n.-69+2381T>G) | |
10 | g.49611581C>A | CA376721013 | CHAT,SLC18A3 | c.841C>A (p.Pro281Thr) c.-69+2382C>A (n.-69+2382C>A) | gnomAD v4 |
10 | g.49611581C= | CA1908794225 | CHAT,SLC18A3 | c.841C= (p.Pro281=) c.-69+2382C= (n.-69+2382C=) | |
10 | g.49611581C>G | CA5496850 | CHAT,SLC18A3 | c.841C>G (p.Pro281Ala) c.-69+2382C>G (n.-69+2382C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611581C>T | CA376721014 | CHAT,SLC18A3 | c.841C>T (p.Pro281Ser) c.-69+2382C>T (n.-69+2382C>T) | gnomAD v4 |
10 | g.49611583del | CA2609116364 | CHAT,SLC18A3 | c.843del (p.Ile282SerfsTer6) c.-69+2384del (n.-69+2384del) | gnomAD v4 |
10 | g.49611582C>A | CA376721015 | CHAT,SLC18A3 | c.842C>A (p.Pro281His) c.-69+2383C>A (n.-69+2383C>A) | |
10 | g.49611582C= | CA1908794230 | CHAT,SLC18A3 | c.842C= (p.Pro281=) c.-69+2383C= (n.-69+2383C=) | |
10 | g.49611582C>G | CA376721016 | CHAT,SLC18A3 | c.842C>G (p.Pro281Arg) c.-69+2383C>G (n.-69+2383C>G) | |
10 | g.49611582C>T | CA5496851 | CHAT,SLC18A3 | c.842C>T (p.Pro281Leu) c.-69+2383C>T (n.-69+2383C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611583C>A | CA469791190 | CHAT,SLC18A3 | c.843C>A (p.Pro281=) c.-69+2384C>A (n.-69+2384C>A) | |
10 | g.49611583C= | CA1908794233 | CHAT,SLC18A3 | c.843C= (p.Pro281=) c.-69+2384C= (n.-69+2384C=) | |
10 | g.49611583C>G | CA5496852 | CHAT,SLC18A3 | c.843C>G (p.Pro281=) c.-69+2384C>G (n.-69+2384C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611583C>T | CA469791191 | CHAT,SLC18A3 | c.843C>T (p.Pro281=) c.-69+2384C>T (n.-69+2384C>T) | |
10 | g.49611584A>C | CA376721017 | CHAT,SLC18A3 | c.844A>C (p.Ile282Leu) c.-69+2385A>C (n.-69+2385A>C) | |
10 | g.49611584A>G | CA376721018 | CHAT,SLC18A3 | c.844A>G (p.Ile282Val) c.-69+2385A>G (n.-69+2385A>G) | |
10 | g.49611584A>T | CA376721019 | CHAT,SLC18A3 | c.844A>T (p.Ile282Phe) c.-69+2385A>T (n.-69+2385A>T) | gnomAD v4 |
10 | g.49611585T>A | CA376721020 | CHAT,SLC18A3 | c.845T>A (p.Ile282Asn) c.-69+2386T>A (n.-69+2386T>A) | |
10 | g.49611585T>C | CA376721021 | CHAT,SLC18A3 | c.845T>C (p.Ile282Thr) c.-69+2386T>C (n.-69+2386T>C) | |
10 | g.49611585T>G | CA376721022 | CHAT,SLC18A3 | c.845T>G (p.Ile282Ser) c.-69+2386T>G (n.-69+2386T>G) | |
10 | g.49611586C>A | CA469791194 | CHAT,SLC18A3 | c.846C>A (p.Ile282=) c.-69+2387C>A (n.-69+2387C>A) | dbSNP |
10 | g.49611586C= | CA1908794236 | CHAT,SLC18A3 | c.846C= (p.Ile282=) c.-69+2387C= (n.-69+2387C=) | |
10 | g.49611586C>G | CA376721023 | CHAT,SLC18A3 | c.846C>G (p.Ile282Met) c.-69+2387C>G (n.-69+2387C>G) | |
10 | g.49611586C>T | CA469791195 | CHAT,SLC18A3 | c.846C>T (p.Ile282=) c.-69+2387C>T (n.-69+2387C>T) | COSMIC |
10 | g.49611587C>A | CA376721024 | CHAT,SLC18A3 | c.847C>A (p.His283Asn) c.-69+2388C>A (n.-69+2388C>A) | |
10 | g.49611587C>G | CA376721025 | CHAT,SLC18A3 | c.847C>G (p.His283Asp) c.-69+2388C>G (n.-69+2388C>G) | |
10 | g.49611587C>T | CA376721026 | CHAT,SLC18A3 | c.847C>T (p.His283Tyr) c.-69+2388C>T (n.-69+2388C>T) | dbSNP gnomAD v4 |
10 | g.49611588A= | CA1908794240 | CHAT,SLC18A3 | c.848A= (p.His283=) c.-69+2389A= (n.-69+2389A=) | |
10 | g.49611588A>C | CA376721027 | CHAT,SLC18A3 | c.848A>C (p.His283Pro) c.-69+2389A>C (n.-69+2389A>C) | |
10 | g.49611588A>G | CA376721029 | CHAT,SLC18A3 | c.848A>G (p.His283Arg) c.-69+2389A>G (n.-69+2389A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611588A>T | CA376721028 | CHAT,SLC18A3 | c.848A>T (p.His283Leu) c.-69+2389A>T (n.-69+2389A>T) | |
10 | g.49611589C>A | CA376721030 | CHAT,SLC18A3 | c.849C>A (p.His283Gln) c.-69+2390C>A (n.-69+2390C>A) | |
10 | g.49611589C= | CA1908794242 | CHAT,SLC18A3 | c.849C= (p.His283=) c.-69+2390C= (n.-69+2390C=) | |
10 | g.49611589C>G | CA376721031 | CHAT,SLC18A3 | c.849C>G (p.His283Gln) c.-69+2390C>G (n.-69+2390C>G) | |
10 | g.49611589C>T | CA469791200 | CHAT,SLC18A3 | c.849C>T (p.His283=) c.-69+2390C>T (n.-69+2390C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611590C>A | CA376721032 | CHAT,SLC18A3 | c.850C>A (p.Arg284Ser) c.-69+2391C>A (n.-69+2391C>A) | |
10 | g.49611590C= | CA1908794249 | CHAT,SLC18A3 | c.850C= (p.Arg284=) c.-69+2391C= (n.-69+2391C=) | |
10 | g.49611590C>G | CA376721033 | CHAT,SLC18A3 | c.850C>G (p.Arg284Gly) c.-69+2391C>G (n.-69+2391C>G) | |
10 | g.49611590C>T | CA5496853 | CHAT,SLC18A3 | c.850C>T (p.Arg284Cys) c.-69+2391C>T (n.-69+2391C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611591G>A | CA376721034 | CHAT,SLC18A3 | c.851G>A (p.Arg284His) c.-69+2392G>A (n.-69+2392G>A) | ClinVar dbSNP gnomAD v4 |
10 | g.49611591G>C | CA376721035 | CHAT,SLC18A3 | c.851G>C (p.Arg284Pro) c.-69+2392G>C (n.-69+2392G>C) | |
10 | g.49611591G>T | CA376721036 | CHAT,SLC18A3 | c.851G>T (p.Arg284Leu) c.-69+2392G>T (n.-69+2392G>T) | |
10 | g.49611592C>A | CA469791202 | CHAT,SLC18A3 | c.852C>A (p.Arg284=) c.-69+2393C>A (n.-69+2393C>A) | |
10 | g.49611592C>G | CA469791203 | CHAT,SLC18A3 | c.852C>G (p.Arg284=) c.-69+2393C>G (n.-69+2393C>G) | |
10 | g.49611592C>T | CA469791204 | CHAT,SLC18A3 | c.852C>T (p.Arg284=) c.-69+2393C>T (n.-69+2393C>T) | gnomAD v4 |
10 | g.49611593C>A | CA376721038 | CHAT,SLC18A3 | c.853C>A (p.Leu285Ile) c.-69+2394C>A (n.-69+2394C>A) | |
10 | g.49611593C>G | CA376721039 | CHAT,SLC18A3 | c.853C>G (p.Leu285Val) c.-69+2394C>G (n.-69+2394C>G) | |
10 | g.49611593C>T | CA376721037 | CHAT,SLC18A3 | c.853C>T (p.Leu285Phe) c.-69+2394C>T (n.-69+2394C>T) | |
10 | g.49611594T>A | CA376721040 | CHAT,SLC18A3 | c.854T>A (p.Leu285His) c.-69+2395T>A (n.-69+2395T>A) | |
10 | g.49611594T>C | CA376721041 | CHAT,SLC18A3 | c.854T>C (p.Leu285Pro) c.-69+2395T>C (n.-69+2395T>C) | ClinVar dbSNP |
10 | g.49611594T>G | CA376721042 | CHAT,SLC18A3 | c.854T>G (p.Leu285Arg) c.-69+2395T>G (n.-69+2395T>G) | |
10 | g.49611594T= | CA1908794253 | CHAT,SLC18A3 | c.854T= (p.Leu285=) c.-69+2395T= (n.-69+2395T=) | |
10 | g.49611595C>A | CA469791209 | CHAT,SLC18A3 | c.855C>A (p.Leu285=) c.-69+2396C>A (n.-69+2396C>A) | gnomAD v4 |
10 | g.49611595C= | CA1908794261 | CHAT,SLC18A3 | c.855C= (p.Leu285=) c.-69+2396C= (n.-69+2396C=) | |
10 | g.49611595C>G | CA469791208 | CHAT,SLC18A3 | c.855C>G (p.Leu285=) c.-69+2396C>G (n.-69+2396C>G) | |
10 | g.49611595C>T | CA5496854 | CHAT,SLC18A3 | c.855C>T (p.Leu285=) c.-69+2396C>T (n.-69+2396C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611596A= | CA1908794265 | CHAT,SLC18A3 | c.856A= (p.Met286=) c.-69+2397A= (n.-69+2397A=) | |
10 | g.49611596A>C | CA206621252 | CHAT,SLC18A3 | c.856A>C (p.Met286Leu) c.-69+2397A>C (n.-69+2397A>C) | dbSNP gnomAD v4 |
10 | g.49611596A>G | CA5496855 | CHAT,SLC18A3 | c.856A>G (p.Met286Val) c.-69+2397A>G (n.-69+2397A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611596A>T | CA376721043 | CHAT,SLC18A3 | c.856A>T (p.Met286Leu) c.-69+2397A>T (n.-69+2397A>T) | |
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) |