Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.49611673dup | CA2843219623 | CHAT,SLC18A3 | c.933dup (p.Ile312HisfsTer?) c.-69+2474dup (n.-69+2474dup) | |
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 |
10 | g.49611698A>C | CA376721431 | CHAT,SLC18A3 | c.958A>C (p.Met320Leu) c.-69+2499A>C (n.-69+2499A>C) | |
10 | g.49611698A>G | CA376721434 | CHAT,SLC18A3 | c.958A>G (p.Met320Val) c.-69+2499A>G (n.-69+2499A>G) | |
10 | g.49611698A>T | CA376721436 | CHAT,SLC18A3 | c.958A>T (p.Met320Leu) c.-69+2499A>T (n.-69+2499A>T) | |
10 | g.49611699T>A | CA376721440 | CHAT,SLC18A3 | c.959T>A (p.Met320Lys) c.-69+2500T>A (n.-69+2500T>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611699T>C | CA376721441 | CHAT,SLC18A3 | c.959T>C (p.Met320Thr) c.-69+2500T>C (n.-69+2500T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611699T>G | CA376721444 | CHAT,SLC18A3 | c.959T>G (p.Met320Arg) c.-69+2500T>G (n.-69+2500T>G) | |
10 | g.49611699T= | CA1908794538 | CHAT,SLC18A3 | c.959T= (p.Met320=) c.-69+2500T= (n.-69+2500T=) | |
10 | g.49611700G>A | CA5496882 | CHAT,SLC18A3 | c.960G>A (p.Met320Ile) c.-69+2501G>A (n.-69+2501G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611700G>C | CA376721448 | CHAT,SLC18A3 | c.960G>C (p.Met320Ile) c.-69+2501G>C (n.-69+2501G>C) | |
10 | g.49611700G= | CA1908794540 | CHAT,SLC18A3 | c.960G= (p.Met320=) c.-69+2501G= (n.-69+2501G=) | |
10 | g.49611700G>T | CA376721449 | CHAT,SLC18A3 | c.960G>T (p.Met320Ile) c.-69+2501G>T (n.-69+2501G>T) | gnomAD v4 |
10 | g.49611701G>A | CA376721450 | CHAT,SLC18A3 | c.961G>A (p.Ala321Thr) c.-69+2502G>A (n.-69+2502G>A) | gnomAD v4 |
10 | g.49611701G>C | CA376721451 | CHAT,SLC18A3 | c.961G>C (p.Ala321Pro) c.-69+2502G>C (n.-69+2502G>C) | |
10 | g.49611701G>T | CA376721452 | CHAT,SLC18A3 | c.961G>T (p.Ala321Ser) c.-69+2502G>T (n.-69+2502G>T) | gnomAD v4 |
10 | g.49611702C>A | CA376721459 | CHAT,SLC18A3 | c.962C>A (p.Ala321Glu) c.-69+2503C>A (n.-69+2503C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611702C= | CA1908794543 | CHAT,SLC18A3 | c.962C= (p.Ala321=) c.-69+2503C= (n.-69+2503C=) | |
10 | g.49611702C>G | CA376721454 | CHAT,SLC18A3 | c.962C>G (p.Ala321Gly) c.-69+2503C>G (n.-69+2503C>G) | |
10 | g.49611702C>T | CA376721456 | CHAT,SLC18A3 | c.962C>T (p.Ala321Val) c.-69+2503C>T (n.-69+2503C>T) | gnomAD v4 |
10 | g.49611703G>A | CA469791373 | CHAT,SLC18A3 | c.963G>A (p.Ala321=) c.-69+2504G>A (n.-69+2504G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611703G>C | CA469791375 | CHAT,SLC18A3 | c.963G>C (p.Ala321=) c.-69+2504G>C (n.-69+2504G>C) | |
10 | g.49611703G= | CA1908794544 | CHAT,SLC18A3 | c.963G= (p.Ala321=) c.-69+2504G= (n.-69+2504G=) | |
10 | g.49611703G>T | CA469791376 | CHAT,SLC18A3 | c.963G>T (p.Ala321=) c.-69+2504G>T (n.-69+2504G>T) | gnomAD v4 |
10 | g.49611704G>A | CA376721462 | CHAT,SLC18A3 | c.964G>A (p.Ala322Thr) c.-69+2505G>A (n.-69+2505G>A) | |
10 | g.49611704G>C | CA376721463 | CHAT,SLC18A3 | c.964G>C (p.Ala322Pro) c.-69+2505G>C (n.-69+2505G>C) | |
10 | g.49611704G>T | CA376721466 | CHAT,SLC18A3 | c.964G>T (p.Ala322Ser) c.-69+2505G>T (n.-69+2505G>T) | gnomAD v4 |
10 | g.49611705C>A | CA376721469 | CHAT,SLC18A3 | c.965C>A (p.Ala322Asp) c.-69+2506C>A (n.-69+2506C>A) | |
10 | g.49611705C>G | CA376721471 | CHAT,SLC18A3 | c.965C>G (p.Ala322Gly) c.-69+2506C>G (n.-69+2506C>G) | |
10 | g.49611705C>T | CA376721472 | CHAT,SLC18A3 | c.965C>T (p.Ala322Val) c.-69+2506C>T (n.-69+2506C>T) | |
10 | g.49611706T>A | CA469791381 | CHAT,SLC18A3 | c.966T>A (p.Ala322=) c.-69+2507T>A (n.-69+2507T>A) | |
10 | g.49611706T>C | CA469791380 | CHAT,SLC18A3 | c.966T>C (p.Ala322=) c.-69+2507T>C (n.-69+2507T>C) | |
10 | g.49611706T>G | CA469791382 | CHAT,SLC18A3 | c.966T>G (p.Ala322=) c.-69+2507T>G (n.-69+2507T>G) | |
10 | g.49611707T>A | CA376721475 | CHAT,SLC18A3 | c.967T>A (p.Ser323Thr) c.-69+2508T>A (n.-69+2508T>A) | |
10 | g.49611707T>C | CA376721477 | CHAT,SLC18A3 | c.967T>C (p.Ser323Pro) c.-69+2508T>C (n.-69+2508T>C) | |
10 | g.49611707T>G | CA376721479 | CHAT,SLC18A3 | c.967T>G (p.Ser323Ala) c.-69+2508T>G (n.-69+2508T>G) | |
10 | g.49611708C>A | CA376721482 | CHAT,SLC18A3 | c.968C>A (p.Ser323Tyr) c.-69+2509C>A (n.-69+2509C>A) | |
10 | g.49611708C>G | CA376721484 | CHAT,SLC18A3 | c.968C>G (p.Ser323Cys) c.-69+2509C>G (n.-69+2509C>G) | |
10 | g.49611708C>T | CA376721486 | CHAT,SLC18A3 | c.968C>T (p.Ser323Phe) c.-69+2509C>T (n.-69+2509C>T) | gnomAD v4 |
10 | g.49611709C>A | CA469791387 | CHAT,SLC18A3 | c.969C>A (p.Ser323=) c.-69+2510C>A (n.-69+2510C>A) | |
10 | g.49611709C>G | CA469791386 | CHAT,SLC18A3 | c.969C>G (p.Ser323=) c.-69+2510C>G (n.-69+2510C>G) | |
10 | g.49611709C>T | CA469791385 | CHAT,SLC18A3 | c.969C>T (p.Ser323=) c.-69+2510C>T (n.-69+2510C>T) | |
10 | g.49611710G>A | CA376721488 | CHAT,SLC18A3 | c.970G>A (p.Glu324Lys) c.-69+2511G>A (n.-69+2511G>A) | gnomAD v4 |
10 | g.49611710G>C | CA376721492 | CHAT,SLC18A3 | c.970G>C (p.Glu324Gln) c.-69+2511G>C (n.-69+2511G>C) | |
10 | g.49611710G>T | CA376721490 | CHAT,SLC18A3 | c.970G>T (p.Glu324Ter) c.-69+2511G>T (n.-69+2511G>T) | gnomAD v4 COSMIC |
10 | g.49611711A>C | CA376721495 | CHAT,SLC18A3 | c.971A>C (p.Glu324Ala) c.-69+2512A>C (n.-69+2512A>C) | gnomAD v4 |
10 | g.49611711A>G | CA376721500 | CHAT,SLC18A3 | c.971A>G (p.Glu324Gly) c.-69+2512A>G (n.-69+2512A>G) | gnomAD v4 |
10 | g.49611711A>T | CA376721497 | CHAT,SLC18A3 | c.971A>T (p.Glu324Val) c.-69+2512A>T (n.-69+2512A>T) | |
10 | g.49611712G>A | CA469791389 | CHAT,SLC18A3 | c.972G>A (p.Glu324=) c.-69+2513G>A (n.-69+2513G>A) | ClinVar |
10 | g.49611712G>C | CA376721509 | CHAT,SLC18A3 | c.972G>C (p.Glu324Asp) c.-69+2513G>C (n.-69+2513G>C) | |
10 | g.49611712G= | CA1908794545 | CHAT,SLC18A3 | c.972G= (p.Glu324=) c.-69+2513G= (n.-69+2513G=) | |
10 | g.49611712G>T | CA376721511 | CHAT,SLC18A3 | c.972G>T (p.Glu324Asp) c.-69+2513G>T (n.-69+2513G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611713T>A | CA376721514 | CHAT,SLC18A3 | c.973T>A (p.Trp325Arg) c.-69+2514T>A (n.-69+2514T>A) | |
10 | g.49611713T>C | CA376721515 | CHAT,SLC18A3 | c.973T>C (p.Trp325Arg) c.-69+2514T>C (n.-69+2514T>C) | |
10 | g.49611713T>G | CA376721518 | CHAT,SLC18A3 | c.973T>G (p.Trp325Gly) c.-69+2514T>G (n.-69+2514T>G) | |
10 | g.49611714G>A | CA376721521 | CHAT,SLC18A3 | c.974G>A (p.Trp325Ter) c.-69+2515G>A (n.-69+2515G>A) | gnomAD v4 |
10 | g.49611714G>C | CA376721523 | CHAT,SLC18A3 | c.974G>C (p.Trp325Ser) c.-69+2515G>C (n.-69+2515G>C) | |
10 | g.49611714G>T | CA376721524 | CHAT,SLC18A3 | c.974G>T (p.Trp325Leu) c.-69+2515G>T (n.-69+2515G>T) | gnomAD v4 |
10 | g.49611716del | CA2609116759 | CHAT,SLC18A3 | c.976del (p.Glu326ArgfsTer?) c.-69+2517del (n.-69+2517del) | gnomAD v4 |
10 | g.49611715G>A | CA376721526 | CHAT,SLC18A3 | c.975G>A (p.Trp325Ter) c.-69+2516G>A (n.-69+2516G>A) | |
10 | g.49611715G>C | CA376721528 | CHAT,SLC18A3 | c.975G>C (p.Trp325Cys) c.-69+2516G>C (n.-69+2516G>C) | |
10 | g.49611715G>T | CA376721530 | CHAT,SLC18A3 | c.975G>T (p.Trp325Cys) c.-69+2516G>T (n.-69+2516G>T) | |
10 | g.49611716G>A | CA376721538 | CHAT,SLC18A3 | c.976G>A (p.Glu326Lys) c.-69+2517G>A (n.-69+2517G>A) | COSMIC |
10 | g.49611716G>C | CA376721536 | CHAT,SLC18A3 | c.976G>C (p.Glu326Gln) c.-69+2517G>C (n.-69+2517G>C) | |
10 | g.49611716G>T | CA376721534 | CHAT,SLC18A3 | c.976G>T (p.Glu326Ter) c.-69+2517G>T (n.-69+2517G>T) | gnomAD v4 |
10 | g.49611717A>C | CA376721541 | CHAT,SLC18A3 | c.977A>C (p.Glu326Ala) c.-69+2518A>C (n.-69+2518A>C) | |
10 | g.49611717A>G | CA376721543 | CHAT,SLC18A3 | c.977A>G (p.Glu326Gly) c.-69+2518A>G (n.-69+2518A>G) | COSMIC |
10 | g.49611717A>T | CA376721544 | CHAT,SLC18A3 | c.977A>T (p.Glu326Val) c.-69+2518A>T (n.-69+2518A>T) | |
10 | g.49611718G>A | CA469791397 | CHAT,SLC18A3 | c.978G>A (p.Glu326=) c.-69+2519G>A (n.-69+2519G>A) | |
10 | g.49611718G>C | CA376721548 | CHAT,SLC18A3 | c.978G>C (p.Glu326Asp) c.-69+2519G>C (n.-69+2519G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611718G= | CA1908794546 | CHAT,SLC18A3 | c.978G= (p.Glu326=) c.-69+2519G= (n.-69+2519G=) | |
10 | g.49611718G>T | CA376721549 | CHAT,SLC18A3 | c.978G>T (p.Glu326Asp) c.-69+2519G>T (n.-69+2519G>T) | gnomAD v4 |
10 | g.49611719A>C | CA376721553 | CHAT,SLC18A3 | c.979A>C (p.Met327Leu) c.-69+2520A>C (n.-69+2520A>C) | |
10 | g.49611719A>G | CA376721555 | CHAT,SLC18A3 | c.979A>G (p.Met327Val) c.-69+2520A>G (n.-69+2520A>G) | |
10 | g.49611719A>T | CA376721557 | CHAT,SLC18A3 | c.979A>T (p.Met327Leu) c.-69+2520A>T (n.-69+2520A>T) | |
10 | g.49611720T>A | CA376721559 | CHAT,SLC18A3 | c.980T>A (p.Met327Lys) c.-69+2521T>A (n.-69+2521T>A) | |
10 | g.49611720T>C | CA376721561 | CHAT,SLC18A3 | c.980T>C (p.Met327Thr) c.-69+2521T>C (n.-69+2521T>C) | |
10 | g.49611720T>G | CA376721563 | CHAT,SLC18A3 | c.980T>G (p.Met327Arg) c.-69+2521T>G (n.-69+2521T>G) | |
10 | g.49611721G>A | CA376721570 | CHAT,SLC18A3 | c.981G>A (p.Met327Ile) c.-69+2522G>A (n.-69+2522G>A) | gnomAD v4 |
10 | g.49611721G>C | CA376721568 | CHAT,SLC18A3 | c.981G>C (p.Met327Ile) c.-69+2522G>C (n.-69+2522G>C) | |
10 | g.49611721G>T | CA376721567 | CHAT,SLC18A3 | c.981G>T (p.Met327Ile) c.-69+2522G>T (n.-69+2522G>T) | dbSNP gnomAD v4 |
10 | g.49611722G>A | CA376721574 | CHAT,SLC18A3 | c.982G>A (p.Gly328Ser) c.-69+2523G>A (n.-69+2523G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611722G>C | CA376721576 | CHAT,SLC18A3 | c.982G>C (p.Gly328Arg) c.-69+2523G>C (n.-69+2523G>C) | gnomAD v4 |
10 | g.49611722G= | CA1908794547 | CHAT,SLC18A3 | c.982G= (p.Gly328=) c.-69+2523G= (n.-69+2523G=) | |
10 | g.49611722G>T | CA376721578 | CHAT,SLC18A3 | c.982G>T (p.Gly328Cys) c.-69+2523G>T (n.-69+2523G>T) | gnomAD v4 |
10 | g.49611723G>A | CA376721581 | CHAT,SLC18A3 | c.983G>A (p.Gly328Asp) c.-69+2524G>A (n.-69+2524G>A) | gnomAD v4 |
10 | g.49611723G>C | CA376721583 | CHAT,SLC18A3 | c.983G>C (p.Gly328Ala) c.-69+2524G>C (n.-69+2524G>C) | |
10 | g.49611723G>T | CA376721585 | CHAT,SLC18A3 | c.983G>T (p.Gly328Val) c.-69+2524G>T (n.-69+2524G>T) | gnomAD v4 |
10 | g.49611724C>A | CA469791404 | CHAT,SLC18A3 | c.984C>A (p.Gly328=) c.-69+2525C>A (n.-69+2525C>A) | |
10 | g.49611724C= | CA1908794548 | CHAT,SLC18A3 | c.984C= (p.Gly328=) c.-69+2525C= (n.-69+2525C=) | |
10 | g.49611724C>G | CA469791402 | CHAT,SLC18A3 | c.984C>G (p.Gly328=) c.-69+2525C>G (n.-69+2525C>G) | |
10 | g.49611724C>T | CA206621328 | CHAT,SLC18A3 | c.984C>T (p.Gly328=) c.-69+2525C>T (n.-69+2525C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611725A= | CA1908794549 | CHAT,SLC18A3 | c.985A= (p.Met329=) c.-69+2526A= (n.-69+2526A=) | |
10 | g.49611725A>C | CA376721591 | CHAT,SLC18A3 | c.985A>C (p.Met329Leu) c.-69+2526A>C (n.-69+2526A>C) | |
10 | g.49611725A>G | CA376721593 | CHAT,SLC18A3 | c.985A>G (p.Met329Val) c.-69+2526A>G (n.-69+2526A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611725A>T | CA376721595 | CHAT,SLC18A3 | c.985A>T (p.Met329Leu) c.-69+2526A>T (n.-69+2526A>T) | ClinVar |
10 | g.49611726T>A | CA376721597 | CHAT,SLC18A3 | c.986T>A (p.Met329Lys) c.-69+2527T>A (n.-69+2527T>A) | |
10 | g.49611726T>C | CA376721598 | CHAT,SLC18A3 | c.986T>C (p.Met329Thr) c.-69+2527T>C (n.-69+2527T>C) | gnomAD v4 |
10 | g.49611726T>G | CA376721600 | CHAT,SLC18A3 | c.986T>G (p.Met329Arg) c.-69+2527T>G (n.-69+2527T>G) | |
10 | g.49611727G>A | CA376721609 | CHAT,SLC18A3 | c.987G>A (p.Met329Ile) c.-69+2528G>A (n.-69+2528G>A) | dbSNP gnomAD v2 |
10 | g.49611727G>C | CA376721604 | CHAT,SLC18A3 | c.987G>C (p.Met329Ile) c.-69+2528G>C (n.-69+2528G>C) | |
10 | g.49611727G= | CA1908794550 | CHAT,SLC18A3 | c.987G= (p.Met329=) c.-69+2528G= (n.-69+2528G=) | |
10 | g.49611727G>T | CA376721606 | CHAT,SLC18A3 | c.987G>T (p.Met329Ile) c.-69+2528G>T (n.-69+2528G>T) | dbSNP |
10 | g.49611728G>A | CA376721611 | CHAT,SLC18A3 | c.988G>A (p.Ala330Thr) c.-69+2529G>A (n.-69+2529G>A) | gnomAD v4 |
10 | g.49611728G>C | CA376721613 | CHAT,SLC18A3 | c.988G>C (p.Ala330Pro) c.-69+2529G>C (n.-69+2529G>C) | |
10 | g.49611728G>T | CA376721615 | CHAT,SLC18A3 | c.988G>T (p.Ala330Ser) c.-69+2529G>T (n.-69+2529G>T) | ClinVar gnomAD v4 |
10 | g.49611729C>A | CA376721619 | CHAT,SLC18A3 | c.989C>A (p.Ala330Asp) c.-69+2530C>A (n.-69+2530C>A) | gnomAD v4 |
10 | g.49611729C>G | CA376721621 | CHAT,SLC18A3 | c.989C>G (p.Ala330Gly) c.-69+2530C>G (n.-69+2530C>G) | |
10 | g.49611729C>T | CA376721623 | CHAT,SLC18A3 | c.989C>T (p.Ala330Val) c.-69+2530C>T (n.-69+2530C>T) | gnomAD v4 |
10 | g.49611730del | CA2609116799 | CHAT,SLC18A3 | c.990del (p.Trp331GlyfsTer?) c.-69+2531del (n.-69+2531del) | gnomAD v4 |
10 | g.49611730C>A | CA469791410 | CHAT,SLC18A3 | c.990C>A (p.Ala330=) c.-69+2531C>A (n.-69+2531C>A) | |
10 | g.49611730C>G | CA469791413 | CHAT,SLC18A3 | c.990C>G (p.Ala330=) c.-69+2531C>G (n.-69+2531C>G) | |
10 | g.49611730C>T | CA469791411 | CHAT,SLC18A3 | c.990C>T (p.Ala330=) c.-69+2531C>T (n.-69+2531C>T) | |
10 | g.49611731T>A | CA376721627 | CHAT,SLC18A3 | c.991T>A (p.Trp331Arg) c.-69+2532T>A (n.-69+2532T>A) | |
10 | g.49611731T>C | CA376721630 | CHAT,SLC18A3 | c.991T>C (p.Trp331Arg) c.-69+2532T>C (n.-69+2532T>C) | |
10 | g.49611731T>G | CA376721632 | CHAT,SLC18A3 | c.991T>G (p.Trp331Gly) c.-69+2532T>G (n.-69+2532T>G) | gnomAD v4 |
10 | g.49611732G>A | CA376721636 | CHAT,SLC18A3 | c.992G>A (p.Trp331Ter) c.-69+2533G>A (n.-69+2533G>A) | |
10 | g.49611732G>C | CA376721638 | CHAT,SLC18A3 | c.992G>C (p.Trp331Ser) c.-69+2533G>C (n.-69+2533G>C) | |
10 | g.49611732G>T | CA376721640 | CHAT,SLC18A3 | c.992G>T (p.Trp331Leu) c.-69+2533G>T (n.-69+2533G>T) | gnomAD v4 |
10 | g.49611733del | CA2843219624 | CHAT,SLC18A3 | c.993del (p.Trp331CysfsTer?) c.-69+2534del (n.-69+2534del) | |
10 | g.49611733G>A | CA376721646 | CHAT,SLC18A3 | c.993G>A (p.Trp331Ter) c.-69+2534G>A (n.-69+2534G>A) | gnomAD v4 |
10 | g.49611733G>C | CA376721648 | CHAT,SLC18A3 | c.993G>C (p.Trp331Cys) c.-69+2534G>C (n.-69+2534G>C) | |
10 | g.49611733G>T | CA376721644 | CHAT,SLC18A3 | c.993G>T (p.Trp331Cys) c.-69+2534G>T (n.-69+2534G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611734C>A | CA376721654 | CHAT,SLC18A3 | c.994C>A (p.Leu332Met) c.-69+2535C>A (n.-69+2535C>A) | gnomAD v4 |
10 | g.49611734C= | CA1908794554 | CHAT,SLC18A3 | c.994C= (p.Leu332=) c.-69+2535C= (n.-69+2535C=) | |
10 | g.49611734C>G | CA376721652 | CHAT,SLC18A3 | c.994C>G (p.Leu332Val) c.-69+2535C>G (n.-69+2535C>G) | |
10 | g.49611734C>T | CA469791416 | CHAT,SLC18A3 | c.994C>T (p.Leu332=) c.-69+2535C>T (n.-69+2535C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611735T>A | CA376721657 | CHAT,SLC18A3 | c.995T>A (p.Leu332Gln) c.-69+2536T>A (n.-69+2536T>A) | |
10 | g.49611735T>C | CA376721659 | CHAT,SLC18A3 | c.995T>C (p.Leu332Pro) c.-69+2536T>C (n.-69+2536T>C) | |
10 | g.49611735T>G | CA376721661 | CHAT,SLC18A3 | c.995T>G (p.Leu332Arg) c.-69+2536T>G (n.-69+2536T>G) | |
10 | g.49611736G>A | CA469791420 | CHAT,SLC18A3 | c.996G>A (p.Leu332=) c.-69+2537G>A (n.-69+2537G>A) | gnomAD v4 |
10 | g.49611736G>C | CA469791421 | CHAT,SLC18A3 | c.996G>C (p.Leu332=) c.-69+2537G>C (n.-69+2537G>C) | |
10 | g.49611736G>T | CA469791422 | CHAT,SLC18A3 | c.996G>T (p.Leu332=) c.-69+2537G>T (n.-69+2537G>T) | gnomAD v4 |
10 | g.49611737C>A | CA376721665 | CHAT,SLC18A3 | c.997C>A (p.Pro333Thr) c.-69+2538C>A (n.-69+2538C>A) | |
10 | g.49611737C>G | CA376721667 | CHAT,SLC18A3 | c.997C>G (p.Pro333Ala) c.-69+2538C>G (n.-69+2538C>G) | |
10 | g.49611737C>T | CA376721670 | CHAT,SLC18A3 | c.997C>T (p.Pro333Ser) c.-69+2538C>T (n.-69+2538C>T) | gnomAD v4 |
10 | g.49611738C>A | CA376721672 | CHAT,SLC18A3 | c.998C>A (p.Pro333Gln) c.-69+2539C>A (n.-69+2539C>A) | |
10 | g.49611738C= | CA1908794559 | CHAT,SLC18A3 | c.998C= (p.Pro333=) c.-69+2539C= (n.-69+2539C=) | |
10 | g.49611738C>G | CA376721675 | CHAT,SLC18A3 | c.998C>G (p.Pro333Arg) c.-69+2539C>G (n.-69+2539C>G) | gnomAD v4 |
10 | g.49611738C>T | CA376721676 | CHAT,SLC18A3 | c.998C>T (p.Pro333Leu) c.-69+2539C>T (n.-69+2539C>T) | dbSNP gnomAD v4 |
10 | g.49611739G>A | CA469791431 | CHAT,SLC18A3 | c.999G>A (p.Pro333=) c.-69+2540G>A (n.-69+2540G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.49611739G>C | CA469791432 | CHAT,SLC18A3 | c.999G>C (p.Pro333=) c.-69+2540G>C (n.-69+2540G>C) | |
10 | g.49611739G= | CA1908794565 | CHAT,SLC18A3 | c.999G= (p.Pro333=) c.-69+2540G= (n.-69+2540G=) | |
10 | g.49611739G>T | CA469791430 | CHAT,SLC18A3 | c.999G>T (p.Pro333=) c.-69+2540G>T (n.-69+2540G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611740G>A | CA376721680 | CHAT,SLC18A3 | c.1000G>A (p.Ala334Thr) c.-69+2541G>A (n.-69+2541G>A) | dbSNP COSMIC |
10 | g.49611740G>C | CA376721682 | CHAT,SLC18A3 | c.1000G>C (p.Ala334Pro) c.-69+2541G>C (n.-69+2541G>C) | |
10 | g.49611740G= | CA1908794567 | CHAT,SLC18A3 | c.1000G= (p.Ala334=) c.-69+2541G= (n.-69+2541G=) | |
10 | g.49611740G>T | CA376721684 | CHAT,SLC18A3 | c.1000G>T (p.Ala334Ser) c.-69+2541G>T (n.-69+2541G>T) | gnomAD v4 |
10 | g.49611741C>A | CA376721691 | CHAT,SLC18A3 | c.1001C>A (p.Ala334Asp) c.-69+2542C>A (n.-69+2542C>A) | dbSNP |
10 | g.49611741C= | CA1908794571 | CHAT,SLC18A3 | c.1001C= (p.Ala334=) c.-69+2542C= (n.-69+2542C=) | |
10 | g.49611741C>G | CA376721687 | CHAT,SLC18A3 | c.1001C>G (p.Ala334Gly) c.-69+2542C>G (n.-69+2542C>G) | |
10 | g.49611741C>T | CA376721689 | CHAT,SLC18A3 | c.1001C>T (p.Ala334Val) c.-69+2542C>T (n.-69+2542C>T) | dbSNP gnomAD v2 |
10 | g.49611742C>A | CA469791440 | CHAT,SLC18A3 | c.1002C>A (p.Ala334=) c.-69+2543C>A (n.-69+2543C>A) | gnomAD v4 |
10 | g.49611742C>G | CA469791438 | CHAT,SLC18A3 | c.1002C>G (p.Ala334=) c.-69+2543C>G (n.-69+2543C>G) | |
10 | g.49611742C>T | CA469791436 | CHAT,SLC18A3 | c.1002C>T (p.Ala334=) c.-69+2543C>T (n.-69+2543C>T) | |
10 | g.49611743_49611752del | CA2609116831 | CHAT,SLC18A3 | c.1003_1012del (p.Phe335MetfsTer29) c.-69+2544_-69+2553del (n.-69+2544_-69+2553del) | gnomAD v4 |
10 | g.49611743T>A | CA376721694 | CHAT,SLC18A3 | c.1003T>A (p.Phe335Ile) c.-69+2544T>A (n.-69+2544T>A) | dbSNP |
10 | g.49611743T>C | CA376721696 | CHAT,SLC18A3 | c.1003T>C (p.Phe335Leu) c.-69+2544T>C (n.-69+2544T>C) | gnomAD v4 |
10 | g.49611743T>G | CA376721699 | CHAT,SLC18A3 | c.1003T>G (p.Phe335Val) c.-69+2544T>G (n.-69+2544T>G) | |
10 | g.49611743T= | CA1908794574 | CHAT,SLC18A3 | c.1003T= (p.Phe335=) c.-69+2544T= (n.-69+2544T=) | |
10 | g.49611744T>A | CA376721702 | CHAT,SLC18A3 | c.1004T>A (p.Phe335Tyr) c.-69+2545T>A (n.-69+2545T>A) | |
10 | g.49611744T>C | CA376721704 | CHAT,SLC18A3 | c.1004T>C (p.Phe335Ser) c.-69+2545T>C (n.-69+2545T>C) | |
10 | g.49611744T>G | CA376721706 | CHAT,SLC18A3 | c.1004T>G (p.Phe335Cys) c.-69+2545T>G (n.-69+2545T>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611744T= | CA1908794578 | CHAT,SLC18A3 | c.1004T= (p.Phe335=) c.-69+2545T= (n.-69+2545T=) | |
10 | g.49611745C>A | CA376721710 | CHAT,SLC18A3 | c.1005C>A (p.Phe335Leu) c.-69+2546C>A (n.-69+2546C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.49611745C= | CA1908794581 | CHAT,SLC18A3 | c.1005C= (p.Phe335=) c.-69+2546C= (n.-69+2546C=) | |
10 | g.49611745C>G | CA376721712 | CHAT,SLC18A3 | c.1005C>G (p.Phe335Leu) c.-69+2546C>G (n.-69+2546C>G) | |
10 | g.49611745C>T | CA5496883 | CHAT,SLC18A3 | c.1005C>T (p.Phe335=) c.-69+2546C>T (n.-69+2546C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.49611746G>A | CA376721717 | CHAT,SLC18A3 | c.1006G>A (p.Val336Met) c.-69+2547G>A (n.-69+2547G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.49611746G>C | CA206621334 | CHAT,SLC18A3 | c.1006G>C (p.Val336Leu) c.-69+2547G>C (n.-69+2547G>C) | dbSNP |
10 | g.49611746G= | CA1908794593 | CHAT,SLC18A3 | c.1006G= (p.Val336=) c.-69+2547G= (n.-69+2547G=) | |
10 | g.49611746G>T | CA376721721 | CHAT,SLC18A3 | c.1006G>T (p.Val336Leu) c.-69+2547G>T (n.-69+2547G>T) | gnomAD v4 |
10 | g.49611747T>A | CA376721729 | CHAT,SLC18A3 | c.1007T>A (p.Val336Glu) c.-69+2548T>A (n.-69+2548T>A) | |
10 | g.49611747T>C | CA376721727 | CHAT,SLC18A3 | c.1007T>C (p.Val336Ala) c.-69+2548T>C (n.-69+2548T>C) | COSMIC |
10 | g.49611747T>G | CA376721725 | CHAT,SLC18A3 | c.1007T>G (p.Val336Gly) c.-69+2548T>G (n.-69+2548T>G) | |
10 | g.49611748G>A | CA5496884 | CHAT,SLC18A3 | c.1008G>A (p.Val336=) c.-69+2549G>A (n.-69+2549G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.49611748G>C | CA469791453 | CHAT,SLC18A3 | c.1008G>C (p.Val336=) c.-69+2549G>C (n.-69+2549G>C) | |
10 | g.49611748G= | CA1908794598 | CHAT,SLC18A3 | c.1008G= (p.Val336=) c.-69+2549G= (n.-69+2549G=) | |
10 | g.49611748G>T | CA469791456 | CHAT,SLC18A3 | c.1008G>T (p.Val336=) c.-69+2549G>T (n.-69+2549G>T) | gnomAD v4 |
10 | g.49611749C>A | CA376721734 | CHAT,SLC18A3 | c.1009C>A (p.Pro337Thr) c.-69+2550C>A (n.-69+2550C>A) | |
10 | g.49611749C>G | CA376721735 | CHAT,SLC18A3 | c.1009C>G (p.Pro337Ala) c.-69+2550C>G (n.-69+2550C>G) | |
10 | g.49611749C>T | CA376721738 | CHAT,SLC18A3 | c.1009C>T (p.Pro337Ser) c.-69+2550C>T (n.-69+2550C>T) |