Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.49611224A= | CA1908793153 | CHAT,SLC18A3 | c.484A= (p.Met162=) c.-69+2025A= (n.-69+2025A=) | |
10 | g.49611224A>C | CA376718826 | CHAT,SLC18A3 | c.484A>C (p.Met162Leu) c.-69+2025A>C (n.-69+2025A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611224A>G | CA376718828 | CHAT,SLC18A3 | c.484A>G (p.Met162Val) c.-69+2025A>G (n.-69+2025A>G) | dbSNP gnomAD v4 |
10 | g.49611224A>T | CA376718830 | CHAT,SLC18A3 | c.484A>T (p.Met162Leu) c.-69+2025A>T (n.-69+2025A>T) | |
10 | g.49611225T>A | CA376718833 | CHAT,SLC18A3 | c.485T>A (p.Met162Lys) c.-69+2026T>A (n.-69+2026T>A) | |
10 | g.49611225T>C | CA376718835 | CHAT,SLC18A3 | c.485T>C (p.Met162Thr) c.-69+2026T>C (n.-69+2026T>C) | gnomAD v4 |
10 | g.49611225T>G | CA376718837 | CHAT,SLC18A3 | c.485T>G (p.Met162Arg) c.-69+2026T>G (n.-69+2026T>G) | |
10 | g.49611226G>A | CA376718839 | CHAT,SLC18A3 | c.486G>A (p.Met162Ile) c.-69+2027G>A (n.-69+2027G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611226G>C | CA376718840 | CHAT,SLC18A3 | c.486G>C (p.Met162Ile) c.-69+2027G>C (n.-69+2027G>C) | |
10 | g.49611226G= | CA1908793159 | CHAT,SLC18A3 | c.486G= (p.Met162=) c.-69+2027G= (n.-69+2027G=) | |
10 | g.49611226G>T | CA206621014 | CHAT,SLC18A3 | c.486G>T (p.Met162Ile) c.-69+2027G>T (n.-69+2027G>T) | dbSNP gnomAD v4 |
10 | g.49611227T>A | CA376718844 | CHAT,SLC18A3 | c.487T>A (p.Phe163Ile) c.-69+2028T>A (n.-69+2028T>A) | |
10 | g.49611227T>C | CA376718847 | CHAT,SLC18A3 | c.487T>C (p.Phe163Leu) c.-69+2028T>C (n.-69+2028T>C) | gnomAD v4 |
10 | g.49611227T>G | CA376718849 | CHAT,SLC18A3 | c.487T>G (p.Phe163Val) c.-69+2028T>G (n.-69+2028T>G) | |
10 | g.49611228T>A | CA376718856 | CHAT,SLC18A3 | c.488T>A (p.Phe163Tyr) c.-69+2029T>A (n.-69+2029T>A) | |
10 | g.49611228T>C | CA376718854 | CHAT,SLC18A3 | c.488T>C (p.Phe163Ser) c.-69+2029T>C (n.-69+2029T>C) | |
10 | g.49611228T>G | CA376718852 | CHAT,SLC18A3 | c.488T>G (p.Phe163Cys) c.-69+2029T>G (n.-69+2029T>G) | |
10 | g.49611229C>A | CA376718858 | CHAT,SLC18A3 | c.489C>A (p.Phe163Leu) c.-69+2030C>A (n.-69+2030C>A) | gnomAD v4 |
10 | g.49611229C= | CA1908793160 | CHAT,SLC18A3 | c.489C= (p.Phe163=) c.-69+2030C= (n.-69+2030C=) | |
10 | g.49611229C>G | CA376718860 | CHAT,SLC18A3 | c.489C>G (p.Phe163Leu) c.-69+2030C>G (n.-69+2030C>G) | |
10 | g.49611229C>T | CA5496770 | CHAT,SLC18A3 | c.489C>T (p.Phe163=) c.-69+2030C>T (n.-69+2030C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611230G>A | CA376718863 | CHAT,SLC18A3 | c.490G>A (p.Ala164Thr) c.-69+2031G>A (n.-69+2031G>A) | dbSNP |
10 | g.49611230G>C | CA376718865 | CHAT,SLC18A3 | c.490G>C (p.Ala164Pro) c.-69+2031G>C (n.-69+2031G>C) | gnomAD v4 |
10 | g.49611230G= | CA1908793163 | CHAT,SLC18A3 | c.490G= (p.Ala164=) c.-69+2031G= (n.-69+2031G=) | |
10 | g.49611230G>T | CA376718867 | CHAT,SLC18A3 | c.490G>T (p.Ala164Ser) c.-69+2031G>T (n.-69+2031G>T) | gnomAD v4 |
10 | g.49611230dup | CA2843219619 | CHAT,SLC18A3 | c.490dup (p.Ala164GlyfsTer?) c.-69+2031dup (n.-69+2031dup) | |
10 | g.49611231C>A | CA376718870 | CHAT,SLC18A3 | c.491C>A (p.Ala164Asp) c.-69+2032C>A (n.-69+2032C>A) | |
10 | g.49611231C>G | CA376718872 | CHAT,SLC18A3 | c.491C>G (p.Ala164Gly) c.-69+2032C>G (n.-69+2032C>G) | |
10 | g.49611231C>T | CA376718884 | CHAT,SLC18A3 | c.491C>T (p.Ala164Val) c.-69+2032C>T (n.-69+2032C>T) | |
10 | g.49611232C>A | CA469791573 | CHAT,SLC18A3 | c.492C>A (p.Ala164=) c.-69+2033C>A (n.-69+2033C>A) | |
10 | g.49611232C>G | CA469791571 | CHAT,SLC18A3 | c.492C>G (p.Ala164=) c.-69+2033C>G (n.-69+2033C>G) | |
10 | g.49611232C>T | CA469791575 | CHAT,SLC18A3 | c.492C>T (p.Ala164=) c.-69+2033C>T (n.-69+2033C>T) | |
10 | g.49611233T>A | CA376718888 | CHAT,SLC18A3 | c.493T>A (p.Ser165Thr) c.-69+2034T>A (n.-69+2034T>A) | |
10 | g.49611233T>C | CA376718891 | CHAT,SLC18A3 | c.493T>C (p.Ser165Pro) c.-69+2034T>C (n.-69+2034T>C) | |
10 | g.49611233T>G | CA376718893 | CHAT,SLC18A3 | c.493T>G (p.Ser165Ala) c.-69+2034T>G (n.-69+2034T>G) | |
10 | g.49611234C>A | CA376718898 | CHAT,SLC18A3 | c.494C>A (p.Ser165Tyr) c.-69+2035C>A (n.-69+2035C>A) | |
10 | g.49611234C>G | CA376718897 | CHAT,SLC18A3 | c.494C>G (p.Ser165Cys) c.-69+2035C>G (n.-69+2035C>G) | COSMIC |
10 | g.49611234C>T | CA376718896 | CHAT,SLC18A3 | c.494C>T (p.Ser165Phe) c.-69+2035C>T (n.-69+2035C>T) | |
10 | g.49611235T>A | CA469791586 | CHAT,SLC18A3 | c.495T>A (p.Ser165=) c.-69+2036T>A (n.-69+2036T>A) | |
10 | g.49611235T>C | CA469791587 | CHAT,SLC18A3 | c.495T>C (p.Ser165=) c.-69+2036T>C (n.-69+2036T>C) | |
10 | g.49611235T>G | CA469791590 | CHAT,SLC18A3 | c.495T>G (p.Ser165=) c.-69+2036T>G (n.-69+2036T>G) | |
10 | g.49611236A>C | CA376718901 | CHAT,SLC18A3 | c.496A>C (p.Thr166Pro) c.-69+2037A>C (n.-69+2037A>C) | |
10 | g.49611236A>G | CA376718905 | CHAT,SLC18A3 | c.496A>G (p.Thr166Ala) c.-69+2037A>G (n.-69+2037A>G) | |
10 | g.49611236A>T | CA376718910 | CHAT,SLC18A3 | c.496A>T (p.Thr166Ser) c.-69+2037A>T (n.-69+2037A>T) | |
10 | g.49611237C>A | CA376718920 | CHAT,SLC18A3 | c.497C>A (p.Thr166Lys) c.-69+2038C>A (n.-69+2038C>A) | |
10 | g.49611237C>G | CA376718922 | CHAT,SLC18A3 | c.497C>G (p.Thr166Arg) c.-69+2038C>G (n.-69+2038C>G) | |
10 | g.49611237C>T | CA376718925 | CHAT,SLC18A3 | c.497C>T (p.Thr166Ile) c.-69+2038C>T (n.-69+2038C>T) | |
10 | g.49611237_49611238insGTAG | CA2609115320 | CHAT,SLC18A3 | c.497_498insGTAG (p.Val167Ter) c.-69+2038_-69+2039insGTAG (n.-69+2038_-69+2039insGTAG) | gnomAD v4 |
10 | g.49611238A= | CA1908793171 | CHAT,SLC18A3 | c.498A= (p.Thr166=) c.-69+2039A= (n.-69+2039A=) | |
10 | g.49611238A>C | CA469791594 | CHAT,SLC18A3 | c.498A>C (p.Thr166=) c.-69+2039A>C (n.-69+2039A>C) | gnomAD v3 gnomAD v4 |
10 | g.49611238A>G | CA5496771 | CHAT,SLC18A3 | c.498A>G (p.Thr166=) c.-69+2039A>G (n.-69+2039A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611238A>T | CA469791593 | CHAT,SLC18A3 | c.498A>T (p.Thr166=) c.-69+2039A>T (n.-69+2039A>T) | |
10 | g.49611239G>A | CA376718931 | CHAT,SLC18A3 | c.499G>A (p.Val167Ile) c.-69+2040G>A (n.-69+2040G>A) | gnomAD v4 |
10 | g.49611239G>C | CA376718936 | CHAT,SLC18A3 | c.499G>C (p.Val167Leu) c.-69+2040G>C (n.-69+2040G>C) | |
10 | g.49611239G>T | CA376718939 | CHAT,SLC18A3 | c.499G>T (p.Val167Phe) c.-69+2040G>T (n.-69+2040G>T) | |
10 | g.49611240T>A | CA376718940 | CHAT,SLC18A3 | c.500T>A (p.Val167Asp) c.-69+2041T>A (n.-69+2041T>A) | |
10 | g.49611240T>C | CA376718941 | CHAT,SLC18A3 | c.500T>C (p.Val167Ala) c.-69+2041T>C (n.-69+2041T>C) | gnomAD v4 |
10 | g.49611240T>G | CA376718942 | CHAT,SLC18A3 | c.500T>G (p.Val167Gly) c.-69+2041T>G (n.-69+2041T>G) | |
10 | g.49611241C>A | CA469791602 | CHAT,SLC18A3 | c.501C>A (p.Val167=) c.-69+2042C>A (n.-69+2042C>A) | |
10 | g.49611241C>G | CA469791604 | CHAT,SLC18A3 | c.501C>G (p.Val167=) c.-69+2042C>G (n.-69+2042C>G) | |
10 | g.49611241C>T | CA469791603 | CHAT,SLC18A3 | c.501C>T (p.Val167=) c.-69+2042C>T (n.-69+2042C>T) | |
10 | g.49611242C>A | CA376718943 | CHAT,SLC18A3 | c.502C>A (p.Leu168Met) c.-69+2043C>A (n.-69+2043C>A) | |
10 | g.49611242C>G | CA376718945 | CHAT,SLC18A3 | c.502C>G (p.Leu168Val) c.-69+2043C>G (n.-69+2043C>G) | |
10 | g.49611242C>T | CA469791607 | CHAT,SLC18A3 | c.502C>T (p.Leu168=) c.-69+2043C>T (n.-69+2043C>T) | |
10 | g.49611243T>A | CA376718949 | CHAT,SLC18A3 | c.503T>A (p.Leu168Gln) c.-69+2044T>A (n.-69+2044T>A) | |
10 | g.49611243T>C | CA376718955 | CHAT,SLC18A3 | c.503T>C (p.Leu168Pro) c.-69+2044T>C (n.-69+2044T>C) | |
10 | g.49611243T>G | CA376718952 | CHAT,SLC18A3 | c.503T>G (p.Leu168Arg) c.-69+2044T>G (n.-69+2044T>G) | |
10 | g.49611244G>A | CA469791614 | CHAT,SLC18A3 | c.504G>A (p.Leu168=) c.-69+2045G>A (n.-69+2045G>A) | |
10 | g.49611244G>C | CA469791612 | CHAT,SLC18A3 | c.504G>C (p.Leu168=) c.-69+2045G>C (n.-69+2045G>C) | |
10 | g.49611244G>T | CA469791616 | CHAT,SLC18A3 | c.504G>T (p.Leu168=) c.-69+2045G>T (n.-69+2045G>T) | gnomAD v4 |
10 | g.49611245T>A | CA376718960 | CHAT,SLC18A3 | c.505T>A (p.Phe169Ile) c.-69+2046T>A (n.-69+2046T>A) | |
10 | g.49611245T>C | CA376718965 | CHAT,SLC18A3 | c.505T>C (p.Phe169Leu) c.-69+2046T>C (n.-69+2046T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611245T>G | CA376718962 | CHAT,SLC18A3 | c.505T>G (p.Phe169Val) c.-69+2046T>G (n.-69+2046T>G) | |
10 | g.49611245T= | CA1908793177 | CHAT,SLC18A3 | c.505T= (p.Phe169=) c.-69+2046T= (n.-69+2046T=) | |
10 | g.49611246T>A | CA376718967 | CHAT,SLC18A3 | c.506T>A (p.Phe169Tyr) c.-69+2047T>A (n.-69+2047T>A) | |
10 | g.49611246T>C | CA376718971 | CHAT,SLC18A3 | c.506T>C (p.Phe169Ser) c.-69+2047T>C (n.-69+2047T>C) | |
10 | g.49611246T>G | CA376718974 | CHAT,SLC18A3 | c.506T>G (p.Phe169Cys) c.-69+2047T>G (n.-69+2047T>G) | |
10 | g.49611247C>A | CA376718978 | CHAT,SLC18A3 | c.507C>A (p.Phe169Leu) c.-69+2048C>A (n.-69+2048C>A) | |
10 | g.49611247C= | CA1908793183 | CHAT,SLC18A3 | c.507C= (p.Phe169=) c.-69+2048C= (n.-69+2048C=) | |
10 | g.49611247C>G | CA376718980 | CHAT,SLC18A3 | c.507C>G (p.Phe169Leu) c.-69+2048C>G (n.-69+2048C>G) | |
10 | g.49611247C>T | CA5496772 | CHAT,SLC18A3 | c.507C>T (p.Phe169=) c.-69+2048C>T (n.-69+2048C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611248G>A | CA376718989 | CHAT,SLC18A3 | c.508G>A (p.Ala170Thr) c.-69+2049G>A (n.-69+2049G>A) | COSMIC |
10 | g.49611248G>C | CA376718993 | CHAT,SLC18A3 | c.508G>C (p.Ala170Pro) c.-69+2049G>C (n.-69+2049G>C) | gnomAD v4 |
10 | g.49611248G>T | CA376718995 | CHAT,SLC18A3 | c.508G>T (p.Ala170Ser) c.-69+2049G>T (n.-69+2049G>T) | |
10 | g.49611249C>A | CA376719000 | CHAT,SLC18A3 | c.509C>A (p.Ala170Asp) c.-69+2050C>A (n.-69+2050C>A) | |
10 | g.49611249C= | CA1908793188 | CHAT,SLC18A3 | c.509C= (p.Ala170=) c.-69+2050C= (n.-69+2050C=) | |
10 | g.49611249C>G | CA376719002 | CHAT,SLC18A3 | c.509C>G (p.Ala170Gly) c.-69+2050C>G (n.-69+2050C>G) | |
10 | g.49611249C>T | CA376719006 | CHAT,SLC18A3 | c.509C>T (p.Ala170Val) c.-69+2050C>T (n.-69+2050C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611250C>A | CA5496773 | CHAT,SLC18A3 | c.510C>A (p.Ala170=) c.-69+2051C>A (n.-69+2051C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611250C= | CA1908793191 | CHAT,SLC18A3 | c.510C= (p.Ala170=) c.-69+2051C= (n.-69+2051C=) | |
10 | g.49611250C>G | CA469791636 | CHAT,SLC18A3 | c.510C>G (p.Ala170=) c.-69+2051C>G (n.-69+2051C>G) | |
10 | g.49611250C>T | CA469791633 | CHAT,SLC18A3 | c.510C>T (p.Ala170=) c.-69+2051C>T (n.-69+2051C>T) | gnomAD v4 |
10 | g.49611251T>A | CA376719011 | CHAT,SLC18A3 | c.511T>A (p.Phe171Ile) c.-69+2052T>A (n.-69+2052T>A) | |
10 | g.49611251T>C | CA5496774 | CHAT,SLC18A3 | c.511T>C (p.Phe171Leu) c.-69+2052T>C (n.-69+2052T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611251T>G | CA376719015 | CHAT,SLC18A3 | c.511T>G (p.Phe171Val) c.-69+2052T>G (n.-69+2052T>G) | |
10 | g.49611251T= | CA1908793194 | CHAT,SLC18A3 | c.511T= (p.Phe171=) c.-69+2052T= (n.-69+2052T=) | |
10 | g.49611252T>A | CA376719019 | CHAT,SLC18A3 | c.512T>A (p.Phe171Tyr) c.-69+2053T>A (n.-69+2053T>A) | |
10 | g.49611252T>C | CA376719023 | CHAT,SLC18A3 | c.512T>C (p.Phe171Ser) c.-69+2053T>C (n.-69+2053T>C) | |
10 | g.49611252T>G | CA376719025 | CHAT,SLC18A3 | c.512T>G (p.Phe171Cys) c.-69+2053T>G (n.-69+2053T>G) | |
10 | g.49611253C>A | CA5496776 | CHAT,SLC18A3 | c.513C>A (p.Phe171Leu) c.-69+2054C>A (n.-69+2054C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611253C= | CA1908793198 | CHAT,SLC18A3 | c.513C= (p.Phe171=) c.-69+2054C= (n.-69+2054C=) | |
10 | g.49611253C>G | CA376719031 | CHAT,SLC18A3 | c.513C>G (p.Phe171Leu) c.-69+2054C>G (n.-69+2054C>G) | |
10 | g.49611253C>T | CA5496775 | CHAT,SLC18A3 | c.513C>T (p.Phe171=) c.-69+2054C>T (n.-69+2054C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611254G>A | CA376719037 | CHAT,SLC18A3 | c.514G>A (p.Ala172Thr) c.-69+2055G>A (n.-69+2055G>A) | COSMIC |
10 | g.49611254G>C | CA206621033 | CHAT,SLC18A3 | c.514G>C (p.Ala172Pro) c.-69+2055G>C (n.-69+2055G>C) | dbSNP gnomAD v4 |
10 | g.49611254G= | CA1908793202 | CHAT,SLC18A3 | c.514G= (p.Ala172=) c.-69+2055G= (n.-69+2055G=) | |
10 | g.49611254G>T | CA376719044 | CHAT,SLC18A3 | c.514G>T (p.Ala172Ser) c.-69+2055G>T (n.-69+2055G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611255C>A | CA376719056 | CHAT,SLC18A3 | c.515C>A (p.Ala172Asp) c.-69+2056C>A (n.-69+2056C>A) | |
10 | g.49611255C= | CA1908793206 | CHAT,SLC18A3 | c.515C= (p.Ala172=) c.-69+2056C= (n.-69+2056C=) | |
10 | g.49611255C>G | CA376719049 | CHAT,SLC18A3 | c.515C>G (p.Ala172Gly) c.-69+2056C>G (n.-69+2056C>G) | |
10 | g.49611255C>T | CA5496777 | CHAT,SLC18A3 | c.515C>T (p.Ala172Val) c.-69+2056C>T (n.-69+2056C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611256C>A | CA469791647 | CHAT,SLC18A3 | c.516C>A (p.Ala172=) c.-69+2057C>A (n.-69+2057C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611256C= | CA1908793210 | CHAT,SLC18A3 | c.516C= (p.Ala172=) c.-69+2057C= (n.-69+2057C=) | |
10 | g.49611256C>G | CA469791645 | CHAT,SLC18A3 | c.516C>G (p.Ala172=) c.-69+2057C>G (n.-69+2057C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611256C>T | CA469791648 | CHAT,SLC18A3 | c.516C>T (p.Ala172=) c.-69+2057C>T (n.-69+2057C>T) | gnomAD v4 |
10 | g.49611257G>A | CA376719065 | CHAT,SLC18A3 | c.517G>A (p.Glu173Lys) c.-69+2058G>A (n.-69+2058G>A) | gnomAD v4 |
10 | g.49611257G>C | CA376719060 | CHAT,SLC18A3 | c.517G>C (p.Glu173Gln) c.-69+2058G>C (n.-69+2058G>C) | gnomAD v4 |
10 | g.49611257G>T | CA376719062 | CHAT,SLC18A3 | c.517G>T (p.Glu173Ter) c.-69+2058G>T (n.-69+2058G>T) | |
10 | g.49611258A>C | CA376719070 | CHAT,SLC18A3 | c.518A>C (p.Glu173Ala) c.-69+2059A>C (n.-69+2059A>C) | |
10 | g.49611258A>G | CA376719071 | CHAT,SLC18A3 | c.518A>G (p.Glu173Gly) c.-69+2059A>G (n.-69+2059A>G) | |
10 | g.49611258A>T | CA376719074 | CHAT,SLC18A3 | c.518A>T (p.Glu173Val) c.-69+2059A>T (n.-69+2059A>T) | |
10 | g.49611259G>A | CA5496778 | CHAT,SLC18A3 | c.519G>A (p.Glu173=) c.-69+2060G>A (n.-69+2060G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611259G>C | CA376719082 | CHAT,SLC18A3 | c.519G>C (p.Glu173Asp) c.-69+2060G>C (n.-69+2060G>C) | |
10 | g.49611259G= | CA1908793217 | CHAT,SLC18A3 | c.519G= (p.Glu173=) c.-69+2060G= (n.-69+2060G=) | |
10 | g.49611259G>T | CA376719085 | CHAT,SLC18A3 | c.519G>T (p.Glu173Asp) c.-69+2060G>T (n.-69+2060G>T) | |
10 | g.49611260G>A | CA376719088 | CHAT,SLC18A3 | c.520G>A (p.Asp174Asn) c.-69+2061G>A (n.-69+2061G>A) | gnomAD v4 COSMIC |
10 | g.49611260G>C | CA376719090 | CHAT,SLC18A3 | c.520G>C (p.Asp174His) c.-69+2061G>C (n.-69+2061G>C) | dbSNP |
10 | g.49611260G= | CA1908793221 | CHAT,SLC18A3 | c.520G= (p.Asp174=) c.-69+2061G= (n.-69+2061G=) | |
10 | g.49611260G>T | CA376719094 | CHAT,SLC18A3 | c.520G>T (p.Asp174Tyr) c.-69+2061G>T (n.-69+2061G>T) | gnomAD v4 |
10 | g.49611261A= | CA1908793223 | CHAT,SLC18A3 | c.521A= (p.Asp174=) c.-69+2062A= (n.-69+2062A=) | |
10 | g.49611261A>C | CA376719097 | CHAT,SLC18A3 | c.521A>C (p.Asp174Ala) c.-69+2062A>C (n.-69+2062A>C) | |
10 | g.49611261A>G | CA376719100 | CHAT,SLC18A3 | c.521A>G (p.Asp174Gly) c.-69+2062A>G (n.-69+2062A>G) | |
10 | g.49611261A>T | CA376719103 | CHAT,SLC18A3 | c.521A>T (p.Asp174Val) c.-69+2062A>T (n.-69+2062A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611262C>A | CA376719109 | CHAT,SLC18A3 | c.522C>A (p.Asp174Glu) c.-69+2063C>A (n.-69+2063C>A) | |
10 | g.49611262C>G | CA376719112 | CHAT,SLC18A3 | c.522C>G (p.Asp174Glu) c.-69+2063C>G (n.-69+2063C>G) | |
10 | g.49611262C>T | CA469791668 | CHAT,SLC18A3 | c.522C>T (p.Asp174=) c.-69+2063C>T (n.-69+2063C>T) | |
10 | g.49611263T>A | CA376719115 | CHAT,SLC18A3 | c.523T>A (p.Tyr175Asn) c.-69+2064T>A (n.-69+2064T>A) | |
10 | g.49611263T>C | CA376719118 | CHAT,SLC18A3 | c.523T>C (p.Tyr175His) c.-69+2064T>C (n.-69+2064T>C) | |
10 | g.49611263T>G | CA376719121 | CHAT,SLC18A3 | c.523T>G (p.Tyr175Asp) c.-69+2064T>G (n.-69+2064T>G) | |
10 | g.49611264A= | CA1908793228 | CHAT,SLC18A3 | c.524A= (p.Tyr175=) c.-69+2065A= (n.-69+2065A=) | |
10 | g.49611264A>C | CA376719125 | CHAT,SLC18A3 | c.524A>C (p.Tyr175Ser) c.-69+2065A>C (n.-69+2065A>C) | |
10 | g.49611264A>G | CA206621043 | CHAT,SLC18A3 | c.524A>G (p.Tyr175Cys) c.-69+2065A>G (n.-69+2065A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611264A>T | CA376719130 | CHAT,SLC18A3 | c.524A>T (p.Tyr175Phe) c.-69+2065A>T (n.-69+2065A>T) | |
10 | g.49611265C>A | CA376719134 | CHAT,SLC18A3 | c.525C>A (p.Tyr175Ter) c.-69+2066C>A (n.-69+2066C>A) | |
10 | g.49611265C= | CA1908793231 | CHAT,SLC18A3 | c.525C= (p.Tyr175=) c.-69+2066C= (n.-69+2066C=) | |
10 | g.49611265C>G | CA376719137 | CHAT,SLC18A3 | c.525C>G (p.Tyr175Ter) c.-69+2066C>G (n.-69+2066C>G) | |
10 | g.49611265C>T | CA5496779 | CHAT,SLC18A3 | c.525C>T (p.Tyr175=) c.-69+2066C>T (n.-69+2066C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611266G>A | CA376719144 | CHAT,SLC18A3 | c.526G>A (p.Ala176Thr) c.-69+2067G>A (n.-69+2067G>A) | dbSNP gnomAD v4 |
10 | g.49611266G>C | CA376719146 | CHAT,SLC18A3 | c.526G>C (p.Ala176Pro) c.-69+2067G>C (n.-69+2067G>C) | |
10 | g.49611266G= | CA1908793233 | CHAT,SLC18A3 | c.526G= (p.Ala176=) c.-69+2067G= (n.-69+2067G=) | |
10 | g.49611266G>T | CA376719148 | CHAT,SLC18A3 | c.526G>T (p.Ala176Ser) c.-69+2067G>T (n.-69+2067G>T) | |
10 | g.49611267C>A | CA376719154 | CHAT,SLC18A3 | c.527C>A (p.Ala176Asp) c.-69+2068C>A (n.-69+2068C>A) | |
10 | g.49611267C>G | CA376719157 | CHAT,SLC18A3 | c.527C>G (p.Ala176Gly) c.-69+2068C>G (n.-69+2068C>G) | |
10 | g.49611267C>T | CA376719152 | CHAT,SLC18A3 | c.527C>T (p.Ala176Val) c.-69+2068C>T (n.-69+2068C>T) | |
10 | g.49611268C>A | CA469791686 | CHAT,SLC18A3 | c.528C>A (p.Ala176=) c.-69+2069C>A (n.-69+2069C>A) | |
10 | g.49611268C= | CA1908793236 | CHAT,SLC18A3 | c.528C= (p.Ala176=) c.-69+2069C= (n.-69+2069C=) | |
10 | g.49611268C>G | CA469791683 | CHAT,SLC18A3 | c.528C>G (p.Ala176=) c.-69+2069C>G (n.-69+2069C>G) | |
10 | g.49611268C>T | CA469791684 | CHAT,SLC18A3 | c.528C>T (p.Ala176=) c.-69+2069C>T (n.-69+2069C>T) | dbSNP gnomAD v2 |
10 | g.49611269del | CA2609115411 | CHAT,SLC18A3 | c.529del (p.Thr177ArgfsTer21) c.-69+2070del (n.-69+2070del) | gnomAD v4 |
10 | g.49611269A>C | CA376719162 | CHAT,SLC18A3 | c.529A>C (p.Thr177Pro) c.-69+2070A>C (n.-69+2070A>C) | |
10 | g.49611269A>G | CA376719168 | CHAT,SLC18A3 | c.529A>G (p.Thr177Ala) c.-69+2070A>G (n.-69+2070A>G) | gnomAD v4 |
10 | g.49611269A>T | CA376719164 | CHAT,SLC18A3 | c.529A>T (p.Thr177Ser) c.-69+2070A>T (n.-69+2070A>T) | |
10 | g.49611270C>A | CA5496781 | CHAT,SLC18A3 | c.530C>A (p.Thr177Lys) c.-69+2071C>A (n.-69+2071C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611270C= | CA1908793239 | CHAT,SLC18A3 | c.530C= (p.Thr177=) c.-69+2071C= (n.-69+2071C=) | |
10 | g.49611270C>G | CA376719174 | CHAT,SLC18A3 | c.530C>G (p.Thr177Arg) c.-69+2071C>G (n.-69+2071C>G) | |
10 | g.49611270C>T | CA5496780 | CHAT,SLC18A3 | c.530C>T (p.Thr177Met) c.-69+2071C>T (n.-69+2071C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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) |