Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.15644367G>A | CA285305 | BTD | c.451G>A (p.Ala151Thr) c.399+2310G>A (n.399+2310G>A) c.165+2310G>A (n.165+2310G>A) c.511G>A (p.Ala171Thr) c.517G>A (p.Ala173Thr) c.229G>A (p.Ala77Thr) c.*2229G>A (n.*2229G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.[15644367G>A;15645186G>C] | CA082710 | BTD | c.[451G>A;1270G>C] (p.[Ala151Thr;Asp424His]) c.[399+2310G>A;399+3129G>C] (n.[399+2310G>A;399+3129G>C]) c.[451G>A;1015+255G>C] (p.Ala151Thr) c.[165+2310G>A;165+3129G>C] (n.[165+2310G>A;165+3129G>C]) c.[511G>A;1330G>C] (p.[Ala171Thr;Asp444His]) c.[517G>A;1336G>C] (p.[Ala173Thr;Asp446His]) c.[229G>A;793+255G>C] (p.Ala77Thr) c.[*2229G>A;*3048G>C] (n.[*2229G>A;*3048G>C]) | |
3 | g.15644367G>C | CA351606247 | BTD | c.451G>C (p.Ala151Pro) c.399+2310G>C (n.399+2310G>C) c.165+2310G>C (n.165+2310G>C) c.511G>C (p.Ala171Pro) c.517G>C (p.Ala173Pro) c.229G>C (p.Ala77Pro) c.*2229G>C (n.*2229G>C) | |
3 | g.15644367G= | CA1347663573 | BTD | c.451G= (p.Ala151=) c.399+2310G= (n.399+2310G=) c.165+2310G= (n.165+2310G=) c.511G= (p.Ala171=) c.517G= (p.Ala173=) c.229G= (p.Ala77=) c.*2229G= (n.*2229G=) | |
3 | g.15644367G>T | CA351606248 | BTD | c.451G>T (p.Ala151Ser) c.399+2310G>T (n.399+2310G>T) c.165+2310G>T (n.165+2310G>T) c.511G>T (p.Ala171Ser) c.517G>T (p.Ala173Ser) c.229G>T (p.Ala77Ser) c.*2229G>T (n.*2229G>T) | |
3 | g.15644368C>A | CA351606249 | BTD | c.452C>A (p.Ala151Asp) c.399+2311C>A (n.399+2311C>A) c.165+2311C>A (n.165+2311C>A) c.512C>A (p.Ala171Asp) c.518C>A (p.Ala173Asp) c.230C>A (p.Ala77Asp) c.*2230C>A (n.*2230C>A) | |
3 | g.15644368C>G | CA351606250 | BTD | c.452C>G (p.Ala151Gly) c.399+2311C>G (n.399+2311C>G) c.165+2311C>G (n.165+2311C>G) c.512C>G (p.Ala171Gly) c.518C>G (p.Ala173Gly) c.230C>G (p.Ala77Gly) c.*2230C>G (n.*2230C>G) | |
3 | g.15644368C>T | CA351606251 | BTD | c.452C>T (p.Ala151Val) c.399+2311C>T (n.399+2311C>T) c.165+2311C>T (n.165+2311C>T) c.512C>T (p.Ala171Val) c.518C>T (p.Ala173Val) c.230C>T (p.Ala77Val) c.*2230C>T (n.*2230C>T) | |
3 | g.15644369C>A | CA432819062 | BTD | c.453C>A (p.Ala151=) c.399+2312C>A (n.399+2312C>A) c.165+2312C>A (n.165+2312C>A) c.513C>A (p.Ala171=) c.519C>A (p.Ala173=) c.231C>A (p.Ala77=) c.*2231C>A (n.*2231C>A) | |
3 | g.15644369C= | CA1347663581 | BTD | c.453C= (p.Ala151=) c.399+2312C= (n.399+2312C=) c.165+2312C= (n.165+2312C=) c.513C= (p.Ala171=) c.519C= (p.Ala173=) c.231C= (p.Ala77=) c.*2231C= (n.*2231C=) | |
3 | g.15644369C>G | CA432819064 | BTD | c.453C>G (p.Ala151=) c.399+2312C>G (n.399+2312C>G) c.165+2312C>G (n.165+2312C>G) c.513C>G (p.Ala171=) c.519C>G (p.Ala173=) c.231C>G (p.Ala77=) c.*2231C>G (n.*2231C>G) | |
3 | g.15644369C>T | CA432819063 | BTD | c.453C>T (p.Ala151=) c.399+2312C>T (n.399+2312C>T) c.165+2312C>T (n.165+2312C>T) c.513C>T (p.Ala171=) c.519C>T (p.Ala173=) c.231C>T (p.Ala77=) c.*2231C>T (n.*2231C>T) | dbSNP |
3 | g.15644369_15644370insGTATCATTAAAAA | CA541677857 | BTD | c.453_454insGTATCATTAAAAA (p.Asn152ValfsTer14) c.399+2312_399+2313insGTATCATTAAAAA (n.399+2312_399+2313insGTATCATTAAAAA) c.165+2312_165+2313insGTATCATTAAAAA (n.165+2312_165+2313insGTATCATTAAAAA) c.513_514insGTATCATTAAAAA (p.Asn172ValfsTer14) c.519_520insGTATCATTAAAAA (p.Asn174ValfsTer14) c.231_232insGTATCATTAAAAA (p.Asn78ValfsTer14) c.*2231_*2232insGTATCATTAAAAA (n.*2231_*2232insGTATCATTAAAAA) | gnomAD v2 |
3 | g.15644369_15644370insGTATCATTAAAAAA | CA541677858 | BTD | c.453_454insGTATCATTAAAAAA (p.Asn152ValfsTer?) c.399+2312_399+2313insGTATCATTAAAAAA (n.399+2312_399+2313insGTATCATTAAAAAA) c.165+2312_165+2313insGTATCATTAAAAAA (n.165+2312_165+2313insGTATCATTAAAAAA) c.513_514insGTATCATTAAAAAA (p.Asn172ValfsTer?) c.519_520insGTATCATTAAAAAA (p.Asn174ValfsTer?) c.231_232insGTATCATTAAAAAA (p.Asn78ValfsTer?) c.*2231_*2232insGTATCATTAAAAAA (n.*2231_*2232insGTATCATTAAAAAA) | gnomAD v2 |
3 | g.15644370A>C | CA351606252 | BTD | c.454A>C (p.Asn152His) c.399+2313A>C (n.399+2313A>C) c.165+2313A>C (n.165+2313A>C) c.514A>C (p.Asn172His) c.520A>C (p.Asn174His) c.232A>C (p.Asn78His) c.*2232A>C (n.*2232A>C) | |
3 | g.15644370A>G | CA351606253 | BTD | c.454A>G (p.Asn152Asp) c.399+2313A>G (n.399+2313A>G) c.165+2313A>G (n.165+2313A>G) c.514A>G (p.Asn172Asp) c.520A>G (p.Asn174Asp) c.232A>G (p.Asn78Asp) c.*2232A>G (n.*2232A>G) | gnomAD v4 |
3 | g.15644370A>T | CA351606254 | BTD | c.454A>T (p.Asn152Tyr) c.399+2313A>T (n.399+2313A>T) c.165+2313A>T (n.165+2313A>T) c.514A>T (p.Asn172Tyr) c.520A>T (p.Asn174Tyr) c.232A>T (p.Asn78Tyr) c.*2232A>T (n.*2232A>T) | |
3 | g.15644371A= | CA1347663585 | BTD | c.455A= (p.Asn152=) c.399+2314A= (n.399+2314A=) c.165+2314A= (n.165+2314A=) c.515A= (p.Asn172=) c.521A= (p.Asn174=) c.233A= (p.Asn78=) c.*2233A= (n.*2233A=) | |
3 | g.15644371A>C | CA351606255 | BTD | c.455A>C (p.Asn152Thr) c.399+2314A>C (n.399+2314A>C) c.165+2314A>C (n.165+2314A>C) c.515A>C (p.Asn172Thr) c.521A>C (p.Asn174Thr) c.233A>C (p.Asn78Thr) c.*2233A>C (n.*2233A>C) | |
3 | g.15644371A>G | CA278220 | BTD | c.455A>G (p.Asn152Ser) c.399+2314A>G (n.399+2314A>G) c.165+2314A>G (n.165+2314A>G) c.515A>G (p.Asn172Ser) c.521A>G (p.Asn174Ser) c.233A>G (p.Asn78Ser) c.*2233A>G (n.*2233A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644371A>T | CA351606256 | BTD | c.455A>T (p.Asn152Ile) c.399+2314A>T (n.399+2314A>T) c.165+2314A>T (n.165+2314A>T) c.515A>T (p.Asn172Ile) c.521A>T (p.Asn174Ile) c.233A>T (p.Asn78Ile) c.*2233A>T (n.*2233A>T) | |
3 | g.15644372T>A | CA351606258 | BTD | c.456T>A (p.Asn152Lys) c.399+2315T>A (n.399+2315T>A) c.165+2315T>A (n.165+2315T>A) c.516T>A (p.Asn172Lys) c.522T>A (p.Asn174Lys) c.234T>A (p.Asn78Lys) c.*2234T>A (n.*2234T>A) | |
3 | g.15644372T>C | CA432819065 | BTD | c.456T>C (p.Asn152=) c.399+2315T>C (n.399+2315T>C) c.165+2315T>C (n.165+2315T>C) c.516T>C (p.Asn172=) c.522T>C (p.Asn174=) c.234T>C (p.Asn78=) c.*2234T>C (n.*2234T>C) | ClinVar |
3 | g.15644372T>G | CA351606257 | BTD | c.456T>G (p.Asn152Lys) c.399+2315T>G (n.399+2315T>G) c.165+2315T>G (n.165+2315T>G) c.516T>G (p.Asn172Lys) c.522T>G (p.Asn174Lys) c.234T>G (p.Asn78Lys) c.*2234T>G (n.*2234T>G) | |
3 | g.15644373C>A | CA351606259 | BTD | c.457C>A (p.Leu153Ile) c.399+2316C>A (n.399+2316C>A) c.165+2316C>A (n.165+2316C>A) c.517C>A (p.Leu173Ile) c.523C>A (p.Leu175Ile) c.235C>A (p.Leu79Ile) c.*2235C>A (n.*2235C>A) | |
3 | g.15644373C>G | CA351606260 | BTD | c.457C>G (p.Leu153Val) c.399+2316C>G (n.399+2316C>G) c.165+2316C>G (n.165+2316C>G) c.517C>G (p.Leu173Val) c.523C>G (p.Leu175Val) c.235C>G (p.Leu79Val) c.*2235C>G (n.*2235C>G) | gnomAD v4 |
3 | g.15644373C>T | CA351606261 | BTD | c.457C>T (p.Leu153Phe) c.399+2316C>T (n.399+2316C>T) c.165+2316C>T (n.165+2316C>T) c.517C>T (p.Leu173Phe) c.523C>T (p.Leu175Phe) c.235C>T (p.Leu79Phe) c.*2235C>T (n.*2235C>T) | |
3 | g.15644374T>A | CA351606262 | BTD | c.458T>A (p.Leu153His) c.399+2317T>A (n.399+2317T>A) c.165+2317T>A (n.165+2317T>A) c.518T>A (p.Leu173His) c.524T>A (p.Leu175His) c.236T>A (p.Leu79His) c.*2236T>A (n.*2236T>A) | |
3 | g.15644374T>C | CA351606263 | BTD | c.458T>C (p.Leu153Pro) c.399+2317T>C (n.399+2317T>C) c.165+2317T>C (n.165+2317T>C) c.518T>C (p.Leu173Pro) c.524T>C (p.Leu175Pro) c.236T>C (p.Leu79Pro) c.*2236T>C (n.*2236T>C) | |
3 | g.15644374T>G | CA278388 | BTD | c.458T>G (p.Leu153Arg) c.399+2317T>G (n.399+2317T>G) c.165+2317T>G (n.165+2317T>G) c.518T>G (p.Leu173Arg) c.524T>G (p.Leu175Arg) c.236T>G (p.Leu79Arg) c.*2236T>G (n.*2236T>G) | dbSNP gnomAD v4 |
3 | g.15644374T= | CA1347663592 | BTD | c.458T= (p.Leu153=) c.399+2317T= (n.399+2317T=) c.165+2317T= (n.165+2317T=) c.518T= (p.Leu173=) c.524T= (p.Leu175=) c.236T= (p.Leu79=) c.*2236T= (n.*2236T=) | |
3 | g.15644375T>A | CA432819068 | BTD | c.459T>A (p.Leu153=) c.399+2318T>A (n.399+2318T>A) c.165+2318T>A (n.165+2318T>A) c.519T>A (p.Leu173=) c.525T>A (p.Leu175=) c.237T>A (p.Leu79=) c.*2237T>A (n.*2237T>A) | |
3 | g.15644375T>C | CA432819069 | BTD | c.459T>C (p.Leu153=) c.399+2318T>C (n.399+2318T>C) c.165+2318T>C (n.165+2318T>C) c.519T>C (p.Leu173=) c.525T>C (p.Leu175=) c.237T>C (p.Leu79=) c.*2237T>C (n.*2237T>C) | |
3 | g.15644375T>G | CA432819070 | BTD | c.459T>G (p.Leu153=) c.399+2318T>G (n.399+2318T>G) c.165+2318T>G (n.165+2318T>G) c.519T>G (p.Leu173=) c.525T>G (p.Leu175=) c.237T>G (p.Leu79=) c.*2237T>G (n.*2237T>G) | |
3 | g.15644376G>A | CA351606264 | BTD | c.460G>A (p.Gly154Arg) c.399+2319G>A (n.399+2319G>A) c.165+2319G>A (n.165+2319G>A) c.520G>A (p.Gly174Arg) c.526G>A (p.Gly176Arg) c.238G>A (p.Gly80Arg) c.*2238G>A (n.*2238G>A) | |
3 | g.15644376G>C | CA351606265 | BTD | c.460G>C (p.Gly154Arg) c.399+2319G>C (n.399+2319G>C) c.165+2319G>C (n.165+2319G>C) c.520G>C (p.Gly174Arg) c.526G>C (p.Gly176Arg) c.238G>C (p.Gly80Arg) c.*2238G>C (n.*2238G>C) | |
3 | g.15644376G>T | CA351606266 | BTD | c.460G>T (p.Gly154Trp) c.399+2319G>T (n.399+2319G>T) c.165+2319G>T (n.165+2319G>T) c.520G>T (p.Gly174Trp) c.526G>T (p.Gly176Trp) c.238G>T (p.Gly80Trp) c.*2238G>T (n.*2238G>T) | |
3 | g.15644377G>A | CA351606267 | BTD | c.461G>A (p.Gly154Glu) c.399+2320G>A (n.399+2320G>A) c.165+2320G>A (n.165+2320G>A) c.521G>A (p.Gly174Glu) c.527G>A (p.Gly176Glu) c.239G>A (p.Gly80Glu) c.*2239G>A (n.*2239G>A) | gnomAD v4 |
3 | g.15644377G>C | CA351606268 | BTD | c.461G>C (p.Gly154Ala) c.399+2320G>C (n.399+2320G>C) c.165+2320G>C (n.165+2320G>C) c.521G>C (p.Gly174Ala) c.527G>C (p.Gly176Ala) c.239G>C (p.Gly80Ala) c.*2239G>C (n.*2239G>C) | |
3 | g.15644377G>T | CA351606269 | BTD | c.461G>T (p.Gly154Val) c.399+2320G>T (n.399+2320G>T) c.165+2320G>T (n.165+2320G>T) c.521G>T (p.Gly174Val) c.527G>T (p.Gly176Val) c.239G>T (p.Gly80Val) c.*2239G>T (n.*2239G>T) | |
3 | g.15644378G>A | CA432819074 | BTD | c.462G>A (p.Gly154=) c.399+2321G>A (n.399+2321G>A) c.165+2321G>A (n.165+2321G>A) c.522G>A (p.Gly174=) c.528G>A (p.Gly176=) c.240G>A (p.Gly80=) c.*2240G>A (n.*2240G>A) | gnomAD v4 |
3 | g.15644378G>C | CA432819075 | BTD | c.462G>C (p.Gly154=) c.399+2321G>C (n.399+2321G>C) c.165+2321G>C (n.165+2321G>C) c.522G>C (p.Gly174=) c.528G>C (p.Gly176=) c.240G>C (p.Gly80=) c.*2240G>C (n.*2240G>C) | |
3 | g.15644378G>T | CA432819076 | BTD | c.462G>T (p.Gly154=) c.399+2321G>T (n.399+2321G>T) c.165+2321G>T (n.165+2321G>T) c.522G>T (p.Gly174=) c.528G>T (p.Gly176=) c.240G>T (p.Gly80=) c.*2240G>T (n.*2240G>T) | |
3 | g.15644379A>C | CA351606271 | BTD | c.463A>C (p.Thr155Pro) c.399+2322A>C (n.399+2322A>C) c.165+2322A>C (n.165+2322A>C) c.523A>C (p.Thr175Pro) c.529A>C (p.Thr177Pro) c.241A>C (p.Thr81Pro) c.*2241A>C (n.*2241A>C) | |
3 | g.15644379A>G | CA351606272 | BTD | c.463A>G (p.Thr155Ala) c.399+2322A>G (n.399+2322A>G) c.165+2322A>G (n.165+2322A>G) c.523A>G (p.Thr175Ala) c.529A>G (p.Thr177Ala) c.241A>G (p.Thr81Ala) c.*2241A>G (n.*2241A>G) | |
3 | g.15644379A>T | CA351606270 | BTD | c.463A>T (p.Thr155Ser) c.399+2322A>T (n.399+2322A>T) c.165+2322A>T (n.165+2322A>T) c.523A>T (p.Thr175Ser) c.529A>T (p.Thr177Ser) c.241A>T (p.Thr81Ser) c.*2241A>T (n.*2241A>T) | gnomAD v4 |
3 | g.15644380C>A | CA351606275 | BTD | c.464C>A (p.Thr155Lys) c.399+2323C>A (n.399+2323C>A) c.165+2323C>A (n.165+2323C>A) c.524C>A (p.Thr175Lys) c.530C>A (p.Thr177Lys) c.242C>A (p.Thr81Lys) c.*2242C>A (n.*2242C>A) | |
3 | g.15644380C>G | CA351606273 | BTD | c.464C>G (p.Thr155Arg) c.399+2323C>G (n.399+2323C>G) c.165+2323C>G (n.165+2323C>G) c.524C>G (p.Thr175Arg) c.530C>G (p.Thr177Arg) c.242C>G (p.Thr81Arg) c.*2242C>G (n.*2242C>G) | |
3 | g.15644380C>T | CA351606274 | BTD | c.464C>T (p.Thr155Ile) c.399+2323C>T (n.399+2323C>T) c.165+2323C>T (n.165+2323C>T) c.524C>T (p.Thr175Ile) c.530C>T (p.Thr177Ile) c.242C>T (p.Thr81Ile) c.*2242C>T (n.*2242C>T) | |
3 | g.15644381A>C | CA432819082 | BTD | c.465A>C (p.Thr155=) c.399+2324A>C (n.399+2324A>C) c.165+2324A>C (n.165+2324A>C) c.525A>C (p.Thr175=) c.531A>C (p.Thr177=) c.243A>C (p.Thr81=) c.*2243A>C (n.*2243A>C) | |
3 | g.15644381A>G | CA432819083 | BTD | c.465A>G (p.Thr155=) c.399+2324A>G (n.399+2324A>G) c.165+2324A>G (n.165+2324A>G) c.525A>G (p.Thr175=) c.531A>G (p.Thr177=) c.243A>G (p.Thr81=) c.*2243A>G (n.*2243A>G) | |
3 | g.15644381A>T | CA432819085 | BTD | c.465A>T (p.Thr155=) c.399+2324A>T (n.399+2324A>T) c.165+2324A>T (n.165+2324A>T) c.525A>T (p.Thr175=) c.531A>T (p.Thr177=) c.243A>T (p.Thr81=) c.*2243A>T (n.*2243A>T) | |
3 | g.15644382A>C | CA351606276 | BTD | c.466A>C (p.Lys156Gln) c.399+2325A>C (n.399+2325A>C) c.165+2325A>C (n.165+2325A>C) c.526A>C (p.Lys176Gln) c.532A>C (p.Lys178Gln) c.244A>C (p.Lys82Gln) c.*2244A>C (n.*2244A>C) | gnomAD v4 |
3 | g.15644382A>G | CA351606277 | BTD | c.466A>G (p.Lys156Glu) c.399+2325A>G (n.399+2325A>G) c.165+2325A>G (n.165+2325A>G) c.526A>G (p.Lys176Glu) c.532A>G (p.Lys178Glu) c.244A>G (p.Lys82Glu) c.*2244A>G (n.*2244A>G) | gnomAD v4 |
3 | g.15644382A>T | CA351606278 | BTD | c.466A>T (p.Lys156Ter) c.399+2325A>T (n.399+2325A>T) c.165+2325A>T (n.165+2325A>T) c.526A>T (p.Lys176Ter) c.532A>T (p.Lys178Ter) c.244A>T (p.Lys82Ter) c.*2244A>T (n.*2244A>T) | ClinVar |
3 | g.15644383A>C | CA351606279 | BTD | c.467A>C (p.Lys156Thr) c.399+2326A>C (n.399+2326A>C) c.165+2326A>C (n.165+2326A>C) c.527A>C (p.Lys176Thr) c.533A>C (p.Lys178Thr) c.245A>C (p.Lys82Thr) c.*2245A>C (n.*2245A>C) | |
3 | g.15644383A>G | CA351606280 | BTD | c.467A>G (p.Lys156Arg) c.399+2326A>G (n.399+2326A>G) c.165+2326A>G (n.165+2326A>G) c.527A>G (p.Lys176Arg) c.533A>G (p.Lys178Arg) c.245A>G (p.Lys82Arg) c.*2245A>G (n.*2245A>G) | |
3 | g.15644383A>T | CA351606281 | BTD | c.467A>T (p.Lys156Met) c.399+2326A>T (n.399+2326A>T) c.165+2326A>T (n.165+2326A>T) c.527A>T (p.Lys176Met) c.533A>T (p.Lys178Met) c.245A>T (p.Lys82Met) c.*2245A>T (n.*2245A>T) | |
3 | g.15644384G>A | CA432819097 | BTD | c.468G>A (p.Lys156=) c.399+2327G>A (n.399+2327G>A) c.165+2327G>A (n.165+2327G>A) c.528G>A (p.Lys176=) c.534G>A (p.Lys178=) c.246G>A (p.Lys82=) c.*2246G>A (n.*2246G>A) | |
3 | g.15644384G>C | CA351606282 | BTD | c.468G>C (p.Lys156Asn) c.399+2327G>C (n.399+2327G>C) c.165+2327G>C (n.165+2327G>C) c.528G>C (p.Lys176Asn) c.534G>C (p.Lys178Asn) c.246G>C (p.Lys82Asn) c.*2246G>C (n.*2246G>C) | |
3 | g.15644384G= | CA1347663596 | BTD | c.468G= (p.Lys156=) c.399+2327G= (n.399+2327G=) c.165+2327G= (n.165+2327G=) c.528G= (p.Lys176=) c.534G= (p.Lys178=) c.246G= (p.Lys82=) c.*2246G= (n.*2246G=) | |
3 | g.15644384G>T | CA220325 | BTD | c.468G>T (p.Lys156Asn) c.399+2327G>T (n.399+2327G>T) c.165+2327G>T (n.165+2327G>T) c.528G>T (p.Lys176Asn) c.534G>T (p.Lys178Asn) c.246G>T (p.Lys82Asn) c.*2246G>T (n.*2246G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644385del | CA2577522745 | BTD | c.469del (p.Glu157SerfsTer?) c.399+2328del (n.399+2328del) c.165+2328del (n.165+2328del) c.529del (p.Glu177SerfsTer?) c.535del (p.Glu179SerfsTer?) c.247del (p.Glu83SerfsTer?) c.*2247del (n.*2247del) | |
3 | g.15644385G>A | CA351606283 | BTD | c.469G>A (p.Glu157Lys) c.399+2328G>A (n.399+2328G>A) c.165+2328G>A (n.165+2328G>A) c.529G>A (p.Glu177Lys) c.535G>A (p.Glu179Lys) c.247G>A (p.Glu83Lys) c.*2247G>A (n.*2247G>A) | dbSNP gnomAD v4 |
3 | g.15644385G>C | CA351606284 | BTD | c.469G>C (p.Glu157Gln) c.399+2328G>C (n.399+2328G>C) c.165+2328G>C (n.165+2328G>C) c.529G>C (p.Glu177Gln) c.535G>C (p.Glu179Gln) c.247G>C (p.Glu83Gln) c.*2247G>C (n.*2247G>C) | dbSNP |
3 | g.15644385G= | CA1347663599 | BTD | c.469G= (p.Glu157=) c.399+2328G= (n.399+2328G=) c.165+2328G= (n.165+2328G=) c.529G= (p.Glu177=) c.535G= (p.Glu179=) c.247G= (p.Glu83=) c.*2247G= (n.*2247G=) | |
3 | g.15644385G>T | CA351606285 | BTD | c.469G>T (p.Glu157Ter) c.399+2328G>T (n.399+2328G>T) c.165+2328G>T (n.165+2328G>T) c.529G>T (p.Glu177Ter) c.535G>T (p.Glu179Ter) c.247G>T (p.Glu83Ter) c.*2247G>T (n.*2247G>T) | gnomAD v4 |
3 | g.15644386A>C | CA351606287 | BTD | c.470A>C (p.Glu157Ala) c.399+2329A>C (n.399+2329A>C) c.165+2329A>C (n.165+2329A>C) c.530A>C (p.Glu177Ala) c.536A>C (p.Glu179Ala) c.248A>C (p.Glu83Ala) c.*2248A>C (n.*2248A>C) | |
3 | g.15644386A>G | CA351606290 | BTD | c.470A>G (p.Glu157Gly) c.399+2329A>G (n.399+2329A>G) c.165+2329A>G (n.165+2329A>G) c.530A>G (p.Glu177Gly) c.536A>G (p.Glu179Gly) c.248A>G (p.Glu83Gly) c.*2248A>G (n.*2248A>G) | |
3 | g.15644386A>T | CA351606289 | BTD | c.470A>T (p.Glu157Val) c.399+2329A>T (n.399+2329A>T) c.165+2329A>T (n.165+2329A>T) c.530A>T (p.Glu177Val) c.536A>T (p.Glu179Val) c.248A>T (p.Glu83Val) c.*2248A>T (n.*2248A>T) | |
3 | g.15644387G>A | CA432819100 | BTD | c.471G>A (p.Glu157=) c.399+2330G>A (n.399+2330G>A) c.165+2330G>A (n.165+2330G>A) c.531G>A (p.Glu177=) c.537G>A (p.Glu179=) c.249G>A (p.Glu83=) c.*2249G>A (n.*2249G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644387G>C | CA351606291 | BTD | c.471G>C (p.Glu157Asp) c.399+2330G>C (n.399+2330G>C) c.165+2330G>C (n.165+2330G>C) c.531G>C (p.Glu177Asp) c.537G>C (p.Glu179Asp) c.249G>C (p.Glu83Asp) c.*2249G>C (n.*2249G>C) | |
3 | g.15644387G= | CA1347663600 | BTD | c.471G= (p.Glu157=) c.399+2330G= (n.399+2330G=) c.165+2330G= (n.165+2330G=) c.531G= (p.Glu177=) c.537G= (p.Glu179=) c.249G= (p.Glu83=) c.*2249G= (n.*2249G=) | |
3 | g.15644387G>T | CA351606292 | BTD | c.471G>T (p.Glu157Asp) c.399+2330G>T (n.399+2330G>T) c.165+2330G>T (n.165+2330G>T) c.531G>T (p.Glu177Asp) c.537G>T (p.Glu179Asp) c.249G>T (p.Glu83Asp) c.*2249G>T (n.*2249G>T) | |
3 | g.15644388C>A | CA351606293 | BTD | c.472C>A (p.Pro158Thr) c.399+2331C>A (n.399+2331C>A) c.165+2331C>A (n.165+2331C>A) c.532C>A (p.Pro178Thr) c.538C>A (p.Pro180Thr) c.250C>A (p.Pro84Thr) c.*2250C>A (n.*2250C>A) | |
3 | g.15644388C>G | CA351606294 | BTD | c.472C>G (p.Pro158Ala) c.399+2331C>G (n.399+2331C>G) c.165+2331C>G (n.165+2331C>G) c.532C>G (p.Pro178Ala) c.538C>G (p.Pro180Ala) c.250C>G (p.Pro84Ala) c.*2250C>G (n.*2250C>G) | |
3 | g.15644388C>T | CA351606295 | BTD | c.472C>T (p.Pro158Ser) c.399+2331C>T (n.399+2331C>T) c.165+2331C>T (n.165+2331C>T) c.532C>T (p.Pro178Ser) c.538C>T (p.Pro180Ser) c.250C>T (p.Pro84Ser) c.*2250C>T (n.*2250C>T) | |
3 | g.15644389C>A | CA351606296 | BTD | c.473C>A (p.Pro158His) c.399+2332C>A (n.399+2332C>A) c.165+2332C>A (n.165+2332C>A) c.533C>A (p.Pro178His) c.539C>A (p.Pro180His) c.251C>A (p.Pro84His) c.*2251C>A (n.*2251C>A) | |
3 | g.15644389C>G | CA351606297 | BTD | c.473C>G (p.Pro158Arg) c.399+2332C>G (n.399+2332C>G) c.165+2332C>G (n.165+2332C>G) c.533C>G (p.Pro178Arg) c.539C>G (p.Pro180Arg) c.251C>G (p.Pro84Arg) c.*2251C>G (n.*2251C>G) | gnomAD v4 |
3 | g.15644389C>T | CA351606298 | BTD | c.473C>T (p.Pro158Leu) c.399+2332C>T (n.399+2332C>T) c.165+2332C>T (n.165+2332C>T) c.533C>T (p.Pro178Leu) c.539C>T (p.Pro180Leu) c.251C>T (p.Pro84Leu) c.*2251C>T (n.*2251C>T) | |
3 | g.15644390T>A | CA432819107 | BTD | c.474T>A (p.Pro158=) c.399+2333T>A (n.399+2333T>A) c.165+2333T>A (n.165+2333T>A) c.534T>A (p.Pro178=) c.540T>A (p.Pro180=) c.252T>A (p.Pro84=) c.*2252T>A (n.*2252T>A) | |
3 | g.15644390T>C | CA432819108 | BTD | c.474T>C (p.Pro158=) c.399+2333T>C (n.399+2333T>C) c.165+2333T>C (n.165+2333T>C) c.534T>C (p.Pro178=) c.540T>C (p.Pro180=) c.252T>C (p.Pro84=) c.*2252T>C (n.*2252T>C) | |
3 | g.15644390T>G | CA432819109 | BTD | c.474T>G (p.Pro158=) c.399+2333T>G (n.399+2333T>G) c.165+2333T>G (n.165+2333T>G) c.534T>G (p.Pro178=) c.540T>G (p.Pro180=) c.252T>G (p.Pro84=) c.*2252T>G (n.*2252T>G) | |
3 | g.15644391T>A | CA351606299 | BTD | c.475T>A (p.Cys159Ser) c.399+2334T>A (n.399+2334T>A) c.165+2334T>A (n.165+2334T>A) c.535T>A (p.Cys179Ser) c.541T>A (p.Cys181Ser) c.253T>A (p.Cys85Ser) c.*2253T>A (n.*2253T>A) | |
3 | g.15644391T>C | CA351606300 | BTD | c.475T>C (p.Cys159Arg) c.399+2334T>C (n.399+2334T>C) c.165+2334T>C (n.165+2334T>C) c.535T>C (p.Cys179Arg) c.541T>C (p.Cys181Arg) c.253T>C (p.Cys85Arg) c.*2253T>C (n.*2253T>C) | |
3 | g.15644391T>G | CA351606301 | BTD | c.475T>G (p.Cys159Gly) c.399+2334T>G (n.399+2334T>G) c.165+2334T>G (n.165+2334T>G) c.535T>G (p.Cys179Gly) c.541T>G (p.Cys181Gly) c.253T>G (p.Cys85Gly) c.*2253T>G (n.*2253T>G) | |
3 | g.15644392G>A | CA351606303 | BTD | c.476G>A (p.Cys159Tyr) c.399+2335G>A (n.399+2335G>A) c.165+2335G>A (n.165+2335G>A) c.536G>A (p.Cys179Tyr) c.542G>A (p.Cys181Tyr) c.254G>A (p.Cys85Tyr) c.*2254G>A (n.*2254G>A) | |
3 | g.15644392G>C | CA351606304 | BTD | c.476G>C (p.Cys159Ser) c.399+2335G>C (n.399+2335G>C) c.165+2335G>C (n.165+2335G>C) c.536G>C (p.Cys179Ser) c.542G>C (p.Cys181Ser) c.254G>C (p.Cys85Ser) c.*2254G>C (n.*2254G>C) | |
3 | g.15644392G>T | CA351606302 | BTD | c.476G>T (p.Cys159Phe) c.399+2335G>T (n.399+2335G>T) c.165+2335G>T (n.165+2335G>T) c.536G>T (p.Cys179Phe) c.542G>T (p.Cys181Phe) c.254G>T (p.Cys85Phe) c.*2254G>T (n.*2254G>T) | |
3 | g.15644393T>A | CA351606305 | BTD | c.477T>A (p.Cys159Ter) c.399+2336T>A (n.399+2336T>A) c.165+2336T>A (n.165+2336T>A) c.537T>A (p.Cys179Ter) c.543T>A (p.Cys181Ter) c.255T>A (p.Cys85Ter) c.*2255T>A (n.*2255T>A) | |
3 | g.15644393T>C | CA432819111 | BTD | c.477T>C (p.Cys159=) c.399+2336T>C (n.399+2336T>C) c.165+2336T>C (n.165+2336T>C) c.537T>C (p.Cys179=) c.543T>C (p.Cys181=) c.255T>C (p.Cys85=) c.*2255T>C (n.*2255T>C) | |
3 | g.15644393T>G | CA351606306 | BTD | c.477T>G (p.Cys159Trp) c.399+2336T>G (n.399+2336T>G) c.165+2336T>G (n.165+2336T>G) c.537T>G (p.Cys179Trp) c.543T>G (p.Cys181Trp) c.255T>G (p.Cys85Trp) c.*2255T>G (n.*2255T>G) | |
3 | g.15644393_15644394delinsAA | CA2573136159 | BTD | c.477_478delinsAA (p.Cys159Ter) c.399+2336_399+2337delinsAA (n.399+2336_399+2337delinsAA) c.165+2336_165+2337delinsAA (n.165+2336_165+2337delinsAA) c.537_538delinsAA (p.Cys179Ter) c.543_544delinsAA (p.Cys181Ter) c.255_256delinsAA (p.Cys85Ter) c.*2255_*2256delinsAA (n.*2255_*2256delinsAA) | ClinVar dbSNP |
3 | g.15644394C>A | CA351606307 | BTD | c.478C>A (p.His160Asn) c.399+2337C>A (n.399+2337C>A) c.165+2337C>A (n.165+2337C>A) c.538C>A (p.His180Asn) c.544C>A (p.His182Asn) c.256C>A (p.His86Asn) c.*2256C>A (n.*2256C>A) | |
3 | g.15644394C>G | CA351606308 | BTD | c.478C>G (p.His160Asp) c.399+2337C>G (n.399+2337C>G) c.165+2337C>G (n.165+2337C>G) c.538C>G (p.His180Asp) c.544C>G (p.His182Asp) c.256C>G (p.His86Asp) c.*2256C>G (n.*2256C>G) | |
3 | g.15644394C>T | CA351606309 | BTD | c.478C>T (p.His160Tyr) c.399+2337C>T (n.399+2337C>T) c.165+2337C>T (n.165+2337C>T) c.538C>T (p.His180Tyr) c.544C>T (p.His182Tyr) c.256C>T (p.His86Tyr) c.*2256C>T (n.*2256C>T) | |
3 | g.15644395A= | CA1347663603 | BTD | c.479A= (p.His160=) c.399+2338A= (n.399+2338A=) c.165+2338A= (n.165+2338A=) c.539A= (p.His180=) c.545A= (p.His182=) c.257A= (p.His86=) c.*2257A= (n.*2257A=) | |
3 | g.15644395A>C | CA351606310 | BTD | c.479A>C (p.His160Pro) c.399+2338A>C (n.399+2338A>C) c.165+2338A>C (n.165+2338A>C) c.539A>C (p.His180Pro) c.545A>C (p.His182Pro) c.257A>C (p.His86Pro) c.*2257A>C (n.*2257A>C) | |
3 | g.15644395A>G | CA2277339 | BTD | c.479A>G (p.His160Arg) c.399+2338A>G (n.399+2338A>G) c.165+2338A>G (n.165+2338A>G) c.539A>G (p.His180Arg) c.545A>G (p.His182Arg) c.257A>G (p.His86Arg) c.*2257A>G (n.*2257A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644395A>T | CA351606311 | BTD | c.479A>T (p.His160Leu) c.399+2338A>T (n.399+2338A>T) c.165+2338A>T (n.165+2338A>T) c.539A>T (p.His180Leu) c.545A>T (p.His182Leu) c.257A>T (p.His86Leu) c.*2257A>T (n.*2257A>T) | |
3 | g.15644396T>A | CA351606312 | BTD | c.480T>A (p.His160Gln) c.399+2339T>A (n.399+2339T>A) c.165+2339T>A (n.165+2339T>A) c.540T>A (p.His180Gln) c.546T>A (p.His182Gln) c.258T>A (p.His86Gln) c.*2258T>A (n.*2258T>A) | |
3 | g.15644396T>C | CA432819117 | BTD | c.480T>C (p.His160=) c.399+2339T>C (n.399+2339T>C) c.165+2339T>C (n.165+2339T>C) c.540T>C (p.His180=) c.546T>C (p.His182=) c.258T>C (p.His86=) c.*2258T>C (n.*2258T>C) | |
3 | g.15644396T>G | CA351606313 | BTD | c.480T>G (p.His160Gln) c.399+2339T>G (n.399+2339T>G) c.165+2339T>G (n.165+2339T>G) c.540T>G (p.His180Gln) c.546T>G (p.His182Gln) c.258T>G (p.His86Gln) c.*2258T>G (n.*2258T>G) | |
3 | g.15644397A= | CA1347663605 | BTD | c.481A= (p.Ser161=) c.399+2340A= (n.399+2340A=) c.165+2340A= (n.165+2340A=) c.541A= (p.Ser181=) c.547A= (p.Ser183=) c.259A= (p.Ser87=) c.*2259A= (n.*2259A=) | |
3 | g.15644397A>C | CA351606314 | BTD | c.481A>C (p.Ser161Arg) c.399+2340A>C (n.399+2340A>C) c.165+2340A>C (n.165+2340A>C) c.541A>C (p.Ser181Arg) c.547A>C (p.Ser183Arg) c.259A>C (p.Ser87Arg) c.*2259A>C (n.*2259A>C) | |
3 | g.15644397A>G | CA2277340 | BTD | c.481A>G (p.Ser161Gly) c.399+2340A>G (n.399+2340A>G) c.165+2340A>G (n.165+2340A>G) c.541A>G (p.Ser181Gly) c.547A>G (p.Ser183Gly) c.259A>G (p.Ser87Gly) c.*2259A>G (n.*2259A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644397A>T | CA351606315 | BTD | c.481A>T (p.Ser161Cys) c.399+2340A>T (n.399+2340A>T) c.165+2340A>T (n.165+2340A>T) c.541A>T (p.Ser181Cys) c.547A>T (p.Ser183Cys) c.259A>T (p.Ser87Cys) c.*2259A>T (n.*2259A>T) | |
3 | g.15644398G>A | CA351606318 | BTD | c.482G>A (p.Ser161Asn) c.399+2341G>A (n.399+2341G>A) c.165+2341G>A (n.165+2341G>A) c.542G>A (p.Ser181Asn) c.548G>A (p.Ser183Asn) c.260G>A (p.Ser87Asn) c.*2260G>A (n.*2260G>A) | |
3 | g.15644398G>C | CA351606317 | BTD | c.482G>C (p.Ser161Thr) c.399+2341G>C (n.399+2341G>C) c.165+2341G>C (n.165+2341G>C) c.542G>C (p.Ser181Thr) c.548G>C (p.Ser183Thr) c.260G>C (p.Ser87Thr) c.*2260G>C (n.*2260G>C) | |
3 | g.15644398G>T | CA351606316 | BTD | c.482G>T (p.Ser161Ile) c.399+2341G>T (n.399+2341G>T) c.165+2341G>T (n.165+2341G>T) c.542G>T (p.Ser181Ile) c.548G>T (p.Ser183Ile) c.260G>T (p.Ser87Ile) c.*2260G>T (n.*2260G>T) | gnomAD v4 |
3 | g.15644399C>A | CA351606319 | BTD | c.483C>A (p.Ser161Arg) c.399+2342C>A (n.399+2342C>A) c.165+2342C>A (n.165+2342C>A) c.543C>A (p.Ser181Arg) c.549C>A (p.Ser183Arg) c.261C>A (p.Ser87Arg) c.*2261C>A (n.*2261C>A) | |
3 | g.15644399C>G | CA351606320 | BTD | c.483C>G (p.Ser161Arg) c.399+2342C>G (n.399+2342C>G) c.165+2342C>G (n.165+2342C>G) c.543C>G (p.Ser181Arg) c.549C>G (p.Ser183Arg) c.261C>G (p.Ser87Arg) c.*2261C>G (n.*2261C>G) | |
3 | g.15644399C>T | CA432819119 | BTD | c.483C>T (p.Ser161=) c.399+2342C>T (n.399+2342C>T) c.165+2342C>T (n.165+2342C>T) c.543C>T (p.Ser181=) c.549C>T (p.Ser183=) c.261C>T (p.Ser87=) c.*2261C>T (n.*2261C>T) | |
3 | g.15644399_15644400delinsCA | CA1347663609 | BTD | c.483_484delinsCA (p.Ser161=) c.399+2342_399+2343delinsCA (n.399+2342_399+2343delinsCA) c.165+2342_165+2343delinsCA (n.165+2342_165+2343delinsCA) c.543_544delinsCA (p.Ser181=) c.549_550delinsCA (p.Ser183=) c.261_262delinsCA (p.Ser87=) c.*2261_*2262delinsCA (n.*2261_*2262delinsCA) | |
3 | g.15644400del | CA278222 | BTD | c.484del (p.Ser162ValfsTer?) c.399+2343del (n.399+2343del) c.165+2343del (n.165+2343del) c.544del (p.Ser182ValfsTer?) c.550del (p.Ser184ValfsTer?) c.262del (p.Ser88ValfsTer?) c.*2262del (n.*2262del) | dbSNP gnomAD v4 |
3 | g.15644400A>C | CA351606321 | BTD | c.484A>C (p.Ser162Arg) c.399+2343A>C (n.399+2343A>C) c.165+2343A>C (n.165+2343A>C) c.544A>C (p.Ser182Arg) c.550A>C (p.Ser184Arg) c.262A>C (p.Ser88Arg) c.*2262A>C (n.*2262A>C) | |
3 | g.15644400A>G | CA351606322 | BTD | c.484A>G (p.Ser162Gly) c.399+2343A>G (n.399+2343A>G) c.165+2343A>G (n.165+2343A>G) c.544A>G (p.Ser182Gly) c.550A>G (p.Ser184Gly) c.262A>G (p.Ser88Gly) c.*2262A>G (n.*2262A>G) | |
3 | g.15644400A>T | CA351606323 | BTD | c.484A>T (p.Ser162Cys) c.399+2343A>T (n.399+2343A>T) c.165+2343A>T (n.165+2343A>T) c.544A>T (p.Ser182Cys) c.550A>T (p.Ser184Cys) c.262A>T (p.Ser88Cys) c.*2262A>T (n.*2262A>T) | |
3 | g.15644401G>A | CA351606324 | BTD | c.485G>A (p.Ser162Asn) c.399+2344G>A (n.399+2344G>A) c.165+2344G>A (n.165+2344G>A) c.545G>A (p.Ser182Asn) c.551G>A (p.Ser184Asn) c.263G>A (p.Ser88Asn) c.*2263G>A (n.*2263G>A) | |
3 | g.15644401G>C | CA351606325 | BTD | c.485G>C (p.Ser162Thr) c.399+2344G>C (n.399+2344G>C) c.165+2344G>C (n.165+2344G>C) c.545G>C (p.Ser182Thr) c.551G>C (p.Ser184Thr) c.263G>C (p.Ser88Thr) c.*2263G>C (n.*2263G>C) | |
3 | g.15644401G>T | CA351606326 | BTD | c.485G>T (p.Ser162Ile) c.399+2344G>T (n.399+2344G>T) c.165+2344G>T (n.165+2344G>T) c.545G>T (p.Ser182Ile) c.551G>T (p.Ser184Ile) c.263G>T (p.Ser88Ile) c.*2263G>T (n.*2263G>T) | |
3 | g.15644402T>A | CA351606327 | BTD | c.486T>A (p.Ser162Arg) c.399+2345T>A (n.399+2345T>A) c.165+2345T>A (n.165+2345T>A) c.546T>A (p.Ser182Arg) c.552T>A (p.Ser184Arg) c.264T>A (p.Ser88Arg) c.*2264T>A (n.*2264T>A) | |
3 | g.15644402T>C | CA432819128 | BTD | c.486T>C (p.Ser162=) c.399+2345T>C (n.399+2345T>C) c.165+2345T>C (n.165+2345T>C) c.546T>C (p.Ser182=) c.552T>C (p.Ser184=) c.264T>C (p.Ser88=) c.*2264T>C (n.*2264T>C) | |
3 | g.15644402T>G | CA351606328 | BTD | c.486T>G (p.Ser162Arg) c.399+2345T>G (n.399+2345T>G) c.165+2345T>G (n.165+2345T>G) c.546T>G (p.Ser182Arg) c.552T>G (p.Ser184Arg) c.264T>G (p.Ser88Arg) c.*2264T>G (n.*2264T>G) | |
3 | g.15644403G>A | CA351606329 | BTD | c.487G>A (p.Asp163Asn) c.399+2346G>A (n.399+2346G>A) c.165+2346G>A (n.165+2346G>A) c.547G>A (p.Asp183Asn) c.553G>A (p.Asp185Asn) c.265G>A (p.Asp89Asn) c.*2265G>A (n.*2265G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644403G>C | CA351606330 | BTD | c.487G>C (p.Asp163His) c.399+2346G>C (n.399+2346G>C) c.165+2346G>C (n.165+2346G>C) c.547G>C (p.Asp183His) c.553G>C (p.Asp185His) c.265G>C (p.Asp89His) c.*2265G>C (n.*2265G>C) | |
3 | g.15644403G= | CA1347663611 | BTD | c.487G= (p.Asp163=) c.399+2346G= (n.399+2346G=) c.165+2346G= (n.165+2346G=) c.547G= (p.Asp183=) c.553G= (p.Asp185=) c.265G= (p.Asp89=) c.*2265G= (n.*2265G=) | |
3 | g.15644403G>T | CA351606331 | BTD | c.487G>T (p.Asp163Tyr) c.399+2346G>T (n.399+2346G>T) c.165+2346G>T (n.165+2346G>T) c.547G>T (p.Asp183Tyr) c.553G>T (p.Asp185Tyr) c.265G>T (p.Asp89Tyr) c.*2265G>T (n.*2265G>T) | |
3 | g.15644404A>C | CA351606333 | BTD | c.488A>C (p.Asp163Ala) c.399+2347A>C (n.399+2347A>C) c.165+2347A>C (n.165+2347A>C) c.548A>C (p.Asp183Ala) c.554A>C (p.Asp185Ala) c.266A>C (p.Asp89Ala) c.*2266A>C (n.*2266A>C) | |
3 | g.15644404A>G | CA351606334 | BTD | c.488A>G (p.Asp163Gly) c.399+2347A>G (n.399+2347A>G) c.165+2347A>G (n.165+2347A>G) c.548A>G (p.Asp183Gly) c.554A>G (p.Asp185Gly) c.266A>G (p.Asp89Gly) c.*2266A>G (n.*2266A>G) | gnomAD v4 |
3 | g.15644404A>T | CA351606332 | BTD | c.488A>T (p.Asp163Val) c.399+2347A>T (n.399+2347A>T) c.165+2347A>T (n.165+2347A>T) c.548A>T (p.Asp183Val) c.554A>T (p.Asp185Val) c.266A>T (p.Asp89Val) c.*2266A>T (n.*2266A>T) | |
3 | g.15644405C>A | CA351606336 | BTD | c.489C>A (p.Asp163Glu) c.399+2348C>A (n.399+2348C>A) c.165+2348C>A (n.165+2348C>A) c.549C>A (p.Asp183Glu) c.555C>A (p.Asp185Glu) c.267C>A (p.Asp89Glu) c.*2267C>A (n.*2267C>A) | |
3 | g.15644405C>G | CA351606335 | BTD | c.489C>G (p.Asp163Glu) c.399+2348C>G (n.399+2348C>G) c.165+2348C>G (n.165+2348C>G) c.549C>G (p.Asp183Glu) c.555C>G (p.Asp185Glu) c.267C>G (p.Asp89Glu) c.*2267C>G (n.*2267C>G) | |
3 | g.15644405C>T | CA432819131 | BTD | c.489C>T (p.Asp163=) c.399+2348C>T (n.399+2348C>T) c.165+2348C>T (n.165+2348C>T) c.549C>T (p.Asp183=) c.555C>T (p.Asp185=) c.267C>T (p.Asp89=) c.*2267C>T (n.*2267C>T) | |
3 | g.15644406C>A | CA351606339 | BTD | c.490C>A (p.Pro164Thr) c.399+2349C>A (n.399+2349C>A) c.165+2349C>A (n.165+2349C>A) c.550C>A (p.Pro184Thr) c.556C>A (p.Pro186Thr) c.268C>A (p.Pro90Thr) c.*2268C>A (n.*2268C>A) | |
3 | g.15644406C>G | CA351606337 | BTD | c.490C>G (p.Pro164Ala) c.399+2349C>G (n.399+2349C>G) c.165+2349C>G (n.165+2349C>G) c.550C>G (p.Pro184Ala) c.556C>G (p.Pro186Ala) c.268C>G (p.Pro90Ala) c.*2268C>G (n.*2268C>G) | |
3 | g.15644406C>T | CA351606338 | BTD | c.490C>T (p.Pro164Ser) c.399+2349C>T (n.399+2349C>T) c.165+2349C>T (n.165+2349C>T) c.550C>T (p.Pro184Ser) c.556C>T (p.Pro186Ser) c.268C>T (p.Pro90Ser) c.*2268C>T (n.*2268C>T) | ClinVar |
3 | g.15644407C>A | CA351606342 | BTD | c.491C>A (p.Pro164Gln) c.399+2350C>A (n.399+2350C>A) c.165+2350C>A (n.165+2350C>A) c.551C>A (p.Pro184Gln) c.557C>A (p.Pro186Gln) c.269C>A (p.Pro90Gln) c.*2269C>A (n.*2269C>A) | |
3 | g.15644407C>G | CA351606343 | BTD | c.491C>G (p.Pro164Arg) c.399+2350C>G (n.399+2350C>G) c.165+2350C>G (n.165+2350C>G) c.551C>G (p.Pro184Arg) c.557C>G (p.Pro186Arg) c.269C>G (p.Pro90Arg) c.*2269C>G (n.*2269C>G) | |
3 | g.15644407C>T | CA351606345 | BTD | c.491C>T (p.Pro164Leu) c.399+2350C>T (n.399+2350C>T) c.165+2350C>T (n.165+2350C>T) c.551C>T (p.Pro184Leu) c.557C>T (p.Pro186Leu) c.269C>T (p.Pro90Leu) c.*2269C>T (n.*2269C>T) | |
3 | g.15644408A= | CA1347663612 | BTD | c.492A= (p.Pro164=) c.399+2351A= (n.399+2351A=) c.165+2351A= (n.165+2351A=) c.552A= (p.Pro184=) c.558A= (p.Pro186=) c.270A= (p.Pro90=) c.*2270A= (n.*2270A=) | |
3 | g.15644408A>C | CA432819137 | BTD | c.492A>C (p.Pro164=) c.399+2351A>C (n.399+2351A>C) c.165+2351A>C (n.165+2351A>C) c.552A>C (p.Pro184=) c.558A>C (p.Pro186=) c.270A>C (p.Pro90=) c.*2270A>C (n.*2270A>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644408A>G | CA432819138 | BTD | c.492A>G (p.Pro164=) c.399+2351A>G (n.399+2351A>G) c.165+2351A>G (n.165+2351A>G) c.552A>G (p.Pro184=) c.558A>G (p.Pro186=) c.270A>G (p.Pro90=) c.*2270A>G (n.*2270A>G) | |
3 | g.15644408A>T | CA432819139 | BTD | c.492A>T (p.Pro164=) c.399+2351A>T (n.399+2351A>T) c.165+2351A>T (n.165+2351A>T) c.552A>T (p.Pro184=) c.558A>T (p.Pro186=) c.270A>T (p.Pro90=) c.*2270A>T (n.*2270A>T) | |
3 | g.15644409A>C | CA432819140 | BTD | c.493A>C (p.Arg165=) c.399+2352A>C (n.399+2352A>C) c.165+2352A>C (n.165+2352A>C) c.553A>C (p.Arg185=) c.559A>C (p.Arg187=) c.271A>C (p.Arg91=) c.*2271A>C (n.*2271A>C) | |
3 | g.15644409A>G | CA351606347 | BTD | c.493A>G (p.Arg165Gly) c.399+2352A>G (n.399+2352A>G) c.165+2352A>G (n.165+2352A>G) c.553A>G (p.Arg185Gly) c.559A>G (p.Arg187Gly) c.271A>G (p.Arg91Gly) c.*2271A>G (n.*2271A>G) | gnomAD v4 |
3 | g.15644409A>T | CA351606349 | BTD | c.493A>T (p.Arg165Trp) c.399+2352A>T (n.399+2352A>T) c.165+2352A>T (n.165+2352A>T) c.553A>T (p.Arg185Trp) c.559A>T (p.Arg187Trp) c.271A>T (p.Arg91Trp) c.*2271A>T (n.*2271A>T) | gnomAD v4 |
3 | g.15644410G>A | CA351606354 | BTD | c.494G>A (p.Arg165Lys) c.399+2353G>A (n.399+2353G>A) c.165+2353G>A (n.165+2353G>A) c.554G>A (p.Arg185Lys) c.560G>A (p.Arg187Lys) c.272G>A (p.Arg91Lys) c.*2272G>A (n.*2272G>A) | ClinVar |
3 | g.15644410G>C | CA351606350 | BTD | c.494G>C (p.Arg165Thr) c.399+2353G>C (n.399+2353G>C) c.165+2353G>C (n.165+2353G>C) c.554G>C (p.Arg185Thr) c.560G>C (p.Arg187Thr) c.272G>C (p.Arg91Thr) c.*2272G>C (n.*2272G>C) | |
3 | g.15644410G>T | CA351606352 | BTD | c.494G>T (p.Arg165Met) c.399+2353G>T (n.399+2353G>T) c.165+2353G>T (n.165+2353G>T) c.554G>T (p.Arg185Met) c.560G>T (p.Arg187Met) c.272G>T (p.Arg91Met) c.*2272G>T (n.*2272G>T) | |
3 | g.15644411G>A | CA432819142 | BTD | c.495G>A (p.Arg165=) c.399+2354G>A (n.399+2354G>A) c.165+2354G>A (n.165+2354G>A) c.555G>A (p.Arg185=) c.561G>A (p.Arg187=) c.273G>A (p.Arg91=) c.*2273G>A (n.*2273G>A) | gnomAD v4 |
3 | g.15644411G>C | CA351606356 | BTD | c.495G>C (p.Arg165Ser) c.399+2354G>C (n.399+2354G>C) c.165+2354G>C (n.165+2354G>C) c.555G>C (p.Arg185Ser) c.561G>C (p.Arg187Ser) c.273G>C (p.Arg91Ser) c.*2273G>C (n.*2273G>C) | |
3 | g.15644411G>T | CA351606358 | BTD | c.495G>T (p.Arg165Ser) c.399+2354G>T (n.399+2354G>T) c.165+2354G>T (n.165+2354G>T) c.555G>T (p.Arg185Ser) c.561G>T (p.Arg187Ser) c.273G>T (p.Arg91Ser) c.*2273G>T (n.*2273G>T) | |
3 | g.15644412T>A | CA351606360 | BTD | c.496T>A (p.Cys166Ser) c.399+2355T>A (n.399+2355T>A) c.165+2355T>A (n.165+2355T>A) c.556T>A (p.Cys186Ser) c.562T>A (p.Cys188Ser) c.274T>A (p.Cys92Ser) c.*2274T>A (n.*2274T>A) | |
3 | g.15644412T>C | CA351606362 | BTD | c.496T>C (p.Cys166Arg) c.399+2355T>C (n.399+2355T>C) c.165+2355T>C (n.165+2355T>C) c.556T>C (p.Cys186Arg) c.562T>C (p.Cys188Arg) c.274T>C (p.Cys92Arg) c.*2274T>C (n.*2274T>C) | ClinVar dbSNP |
3 | g.15644412T>G | CA70621546 | BTD | c.496T>G (p.Cys166Gly) c.399+2355T>G (n.399+2355T>G) c.165+2355T>G (n.165+2355T>G) c.556T>G (p.Cys186Gly) c.562T>G (p.Cys188Gly) c.274T>G (p.Cys92Gly) c.*2274T>G (n.*2274T>G) | ClinVar dbSNP |
3 | g.15644412T= | CA1347663615 | BTD | c.496T= (p.Cys166=) c.399+2355T= (n.399+2355T=) c.165+2355T= (n.165+2355T=) c.556T= (p.Cys186=) c.562T= (p.Cys188=) c.274T= (p.Cys92=) c.*2274T= (n.*2274T=) | |
3 | g.15644413G>A | CA220327 | BTD | c.497G>A (p.Cys166Tyr) c.399+2356G>A (n.399+2356G>A) c.165+2356G>A (n.165+2356G>A) c.557G>A (p.Cys186Tyr) c.563G>A (p.Cys188Tyr) c.275G>A (p.Cys92Tyr) c.*2275G>A (n.*2275G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644413G>C | CA351606368 | BTD | c.497G>C (p.Cys166Ser) c.399+2356G>C (n.399+2356G>C) c.165+2356G>C (n.165+2356G>C) c.557G>C (p.Cys186Ser) c.563G>C (p.Cys188Ser) c.275G>C (p.Cys92Ser) c.*2275G>C (n.*2275G>C) | |
3 | g.15644413G= | CA1347663619 | BTD | c.497G= (p.Cys166=) c.399+2356G= (n.399+2356G=) c.165+2356G= (n.165+2356G=) c.557G= (p.Cys186=) c.563G= (p.Cys188=) c.275G= (p.Cys92=) c.*2275G= (n.*2275G=) | |
3 | g.15644413G>T | CA351606366 | BTD | c.497G>T (p.Cys166Phe) c.399+2356G>T (n.399+2356G>T) c.165+2356G>T (n.165+2356G>T) c.557G>T (p.Cys186Phe) c.563G>T (p.Cys188Phe) c.275G>T (p.Cys92Phe) c.*2275G>T (n.*2275G>T) | |
3 | g.15644414C>A | CA351606370 | BTD | c.498C>A (p.Cys166Ter) c.399+2357C>A (n.399+2357C>A) c.165+2357C>A (n.165+2357C>A) c.558C>A (p.Cys186Ter) c.564C>A (p.Cys188Ter) c.276C>A (p.Cys92Ter) c.*2276C>A (n.*2276C>A) | |
3 | g.15644414C>G | CA351606371 | BTD | c.498C>G (p.Cys166Trp) c.399+2357C>G (n.399+2357C>G) c.165+2357C>G (n.165+2357C>G) c.558C>G (p.Cys186Trp) c.564C>G (p.Cys188Trp) c.276C>G (p.Cys92Trp) c.*2276C>G (n.*2276C>G) | ClinVar dbSNP |
3 | g.15644414C>T | CA432819150 | BTD | c.498C>T (p.Cys166=) c.399+2357C>T (n.399+2357C>T) c.165+2357C>T (n.165+2357C>T) c.558C>T (p.Cys186=) c.564C>T (p.Cys188=) c.276C>T (p.Cys92=) c.*2276C>T (n.*2276C>T) | |
3 | g.15644416del | CA2573052104 | BTD | c.500del (p.Pro167GlnfsTer?) c.399+2359del (n.399+2359del) c.165+2359del (n.165+2359del) c.560del (p.Pro187GlnfsTer?) c.566del (p.Pro189GlnfsTer?) c.278del (p.Pro93GlnfsTer?) c.*2278del (n.*2278del) | ClinVar dbSNP |
3 | g.15644415C>A | CA351606373 | BTD | c.499C>A (p.Pro167Thr) c.399+2358C>A (n.399+2358C>A) c.165+2358C>A (n.165+2358C>A) c.559C>A (p.Pro187Thr) c.565C>A (p.Pro189Thr) c.277C>A (p.Pro93Thr) c.*2277C>A (n.*2277C>A) | |
3 | g.15644415C= | CA1347663623 | BTD | c.499C= (p.Pro167=) c.399+2358C= (n.399+2358C=) c.165+2358C= (n.165+2358C=) c.559C= (p.Pro187=) c.565C= (p.Pro189=) c.277C= (p.Pro93=) c.*2277C= (n.*2277C=) | |
3 | g.15644415C>G | CA351606375 | BTD | c.499C>G (p.Pro167Ala) c.399+2358C>G (n.399+2358C>G) c.165+2358C>G (n.165+2358C>G) c.559C>G (p.Pro187Ala) c.565C>G (p.Pro189Ala) c.277C>G (p.Pro93Ala) c.*2277C>G (n.*2277C>G) | |
3 | g.15644415C>T | CA278223 | BTD | c.499C>T (p.Pro167Ser) c.399+2358C>T (n.399+2358C>T) c.165+2358C>T (n.165+2358C>T) c.559C>T (p.Pro187Ser) c.565C>T (p.Pro189Ser) c.277C>T (p.Pro93Ser) c.*2277C>T (n.*2277C>T) | dbSNP |
3 | g.15644416C>A | CA351606378 | BTD | c.500C>A (p.Pro167Gln) c.399+2359C>A (n.399+2359C>A) c.165+2359C>A (n.165+2359C>A) c.560C>A (p.Pro187Gln) c.566C>A (p.Pro189Gln) c.278C>A (p.Pro93Gln) c.*2278C>A (n.*2278C>A) | |
3 | g.15644416C= | CA1347663628 | BTD | c.500C= (p.Pro167=) c.399+2359C= (n.399+2359C=) c.165+2359C= (n.165+2359C=) c.560C= (p.Pro187=) c.566C= (p.Pro189=) c.278C= (p.Pro93=) c.*2278C= (n.*2278C=) | |
3 | g.15644416C>G | CA351606380 | BTD | c.500C>G (p.Pro167Arg) c.399+2359C>G (n.399+2359C>G) c.165+2359C>G (n.165+2359C>G) c.560C>G (p.Pro187Arg) c.566C>G (p.Pro189Arg) c.278C>G (p.Pro93Arg) c.*2278C>G (n.*2278C>G) | |
3 | g.15644416C>T | CA2277341 | BTD | c.500C>T (p.Pro167Leu) c.399+2359C>T (n.399+2359C>T) c.165+2359C>T (n.165+2359C>T) c.560C>T (p.Pro187Leu) c.566C>T (p.Pro189Leu) c.278C>T (p.Pro93Leu) c.*2278C>T (n.*2278C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644417A= | CA1347663630 | BTD | c.501A= (p.Pro167=) c.399+2360A= (n.399+2360A=) c.165+2360A= (n.165+2360A=) c.561A= (p.Pro187=) c.567A= (p.Pro189=) c.279A= (p.Pro93=) c.*2279A= (n.*2279A=) | |
3 | g.15644417A>C | CA432819152 | BTD | c.501A>C (p.Pro167=) c.399+2360A>C (n.399+2360A>C) c.165+2360A>C (n.165+2360A>C) c.561A>C (p.Pro187=) c.567A>C (p.Pro189=) c.279A>C (p.Pro93=) c.*2279A>C (n.*2279A>C) | |
3 | g.15644417A>G | CA432819154 | BTD | c.501A>G (p.Pro167=) c.399+2360A>G (n.399+2360A>G) c.165+2360A>G (n.165+2360A>G) c.561A>G (p.Pro187=) c.567A>G (p.Pro189=) c.279A>G (p.Pro93=) c.*2279A>G (n.*2279A>G) | |
3 | g.15644417A>T | CA432819156 | BTD | c.501A>T (p.Pro167=) c.399+2360A>T (n.399+2360A>T) c.165+2360A>T (n.165+2360A>T) c.561A>T (p.Pro187=) c.567A>T (p.Pro189=) c.279A>T (p.Pro93=) c.*2279A>T (n.*2279A>T) | dbSNP |
3 | g.15644418A>C | CA351606382 | BTD | c.502A>C (p.Lys168Gln) c.399+2361A>C (n.399+2361A>C) c.165+2361A>C (n.165+2361A>C) c.562A>C (p.Lys188Gln) c.568A>C (p.Lys190Gln) c.280A>C (p.Lys94Gln) c.*2280A>C (n.*2280A>C) | |
3 | g.15644418A>G | CA351606384 | BTD | c.502A>G (p.Lys168Glu) c.399+2361A>G (n.399+2361A>G) c.165+2361A>G (n.165+2361A>G) c.562A>G (p.Lys188Glu) c.568A>G (p.Lys190Glu) c.280A>G (p.Lys94Glu) c.*2280A>G (n.*2280A>G) | gnomAD v4 |
3 | g.15644418A>T | CA351606385 | BTD | c.502A>T (p.Lys168Ter) c.399+2361A>T (n.399+2361A>T) c.165+2361A>T (n.165+2361A>T) c.562A>T (p.Lys188Ter) c.568A>T (p.Lys190Ter) c.280A>T (p.Lys94Ter) c.*2280A>T (n.*2280A>T) | |
3 | g.15644419A>C | CA351606388 | BTD | c.503A>C (p.Lys168Thr) c.399+2362A>C (n.399+2362A>C) c.165+2362A>C (n.165+2362A>C) c.563A>C (p.Lys188Thr) c.569A>C (p.Lys190Thr) c.281A>C (p.Lys94Thr) c.*2281A>C (n.*2281A>C) | |
3 | g.15644419A>G | CA351606391 | BTD | c.503A>G (p.Lys168Arg) c.399+2362A>G (n.399+2362A>G) c.165+2362A>G (n.165+2362A>G) c.563A>G (p.Lys188Arg) c.569A>G (p.Lys190Arg) c.281A>G (p.Lys94Arg) c.*2281A>G (n.*2281A>G) | |
3 | g.15644419A>T | CA351606390 | BTD | c.503A>T (p.Lys168Ile) c.399+2362A>T (n.399+2362A>T) c.165+2362A>T (n.165+2362A>T) c.563A>T (p.Lys188Ile) c.569A>T (p.Lys190Ile) c.281A>T (p.Lys94Ile) c.*2281A>T (n.*2281A>T) | |
3 | g.15644420A>C | CA351606393 | BTD | c.504A>C (p.Lys168Asn) c.399+2363A>C (n.399+2363A>C) c.165+2363A>C (n.165+2363A>C) c.564A>C (p.Lys188Asn) c.570A>C (p.Lys190Asn) c.282A>C (p.Lys94Asn) c.*2282A>C (n.*2282A>C) | |
3 | g.15644420A>G | CA432819169 | BTD | c.504A>G (p.Lys168=) c.399+2363A>G (n.399+2363A>G) c.165+2363A>G (n.165+2363A>G) c.564A>G (p.Lys188=) c.570A>G (p.Lys190=) c.282A>G (p.Lys94=) c.*2282A>G (n.*2282A>G) | |
3 | g.15644420A>T | CA351606395 | BTD | c.504A>T (p.Lys168Asn) c.399+2363A>T (n.399+2363A>T) c.165+2363A>T (n.165+2363A>T) c.564A>T (p.Lys188Asn) c.570A>T (p.Lys190Asn) c.282A>T (p.Lys94Asn) c.*2282A>T (n.*2282A>T) | |
3 | g.15644421G>A | CA351606398 | BTD | c.505G>A (p.Asp169Asn) c.399+2364G>A (n.399+2364G>A) c.165+2364G>A (n.165+2364G>A) c.565G>A (p.Asp189Asn) c.571G>A (p.Asp191Asn) c.283G>A (p.Asp95Asn) c.*2283G>A (n.*2283G>A) | |
3 | g.15644421G>C | CA351606400 | BTD | c.505G>C (p.Asp169His) c.399+2364G>C (n.399+2364G>C) c.165+2364G>C (n.165+2364G>C) c.565G>C (p.Asp189His) c.571G>C (p.Asp191His) c.283G>C (p.Asp95His) c.*2283G>C (n.*2283G>C) | COSMIC |
3 | g.15644421G>T | CA351606401 | BTD | c.505G>T (p.Asp169Tyr) c.399+2364G>T (n.399+2364G>T) c.165+2364G>T (n.165+2364G>T) c.565G>T (p.Asp189Tyr) c.571G>T (p.Asp191Tyr) c.283G>T (p.Asp95Tyr) c.*2283G>T (n.*2283G>T) | |
3 | g.15644422A= | CA1347663632 | BTD | c.506A= (p.Asp169=) c.399+2365A= (n.399+2365A=) c.165+2365A= (n.165+2365A=) c.566A= (p.Asp189=) c.572A= (p.Asp191=) c.284A= (p.Asp95=) c.*2284A= (n.*2284A=) | |
3 | g.15644422A>C | CA351606404 | BTD | c.506A>C (p.Asp169Ala) c.399+2365A>C (n.399+2365A>C) c.165+2365A>C (n.165+2365A>C) c.566A>C (p.Asp189Ala) c.572A>C (p.Asp191Ala) c.284A>C (p.Asp95Ala) c.*2284A>C (n.*2284A>C) | |
3 | g.15644422A>G | CA70621563 | BTD | c.506A>G (p.Asp169Gly) c.399+2365A>G (n.399+2365A>G) c.165+2365A>G (n.165+2365A>G) c.566A>G (p.Asp189Gly) c.572A>G (p.Asp191Gly) c.284A>G (p.Asp95Gly) c.*2284A>G (n.*2284A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644422A>T | CA351606406 | BTD | c.506A>T (p.Asp169Val) c.399+2365A>T (n.399+2365A>T) c.165+2365A>T (n.165+2365A>T) c.566A>T (p.Asp189Val) c.572A>T (p.Asp191Val) c.284A>T (p.Asp95Val) c.*2284A>T (n.*2284A>T) | gnomAD v4 |
3 | g.15644423T>A | CA351606409 | BTD | c.507T>A (p.Asp169Glu) c.399+2366T>A (n.399+2366T>A) c.165+2366T>A (n.165+2366T>A) c.567T>A (p.Asp189Glu) c.573T>A (p.Asp191Glu) c.285T>A (p.Asp95Glu) c.*2285T>A (n.*2285T>A) | |
3 | g.15644423T>C | CA432819175 | BTD | c.507T>C (p.Asp169=) c.399+2366T>C (n.399+2366T>C) c.165+2366T>C (n.165+2366T>C) c.567T>C (p.Asp189=) c.573T>C (p.Asp191=) c.285T>C (p.Asp95=) c.*2285T>C (n.*2285T>C) | gnomAD v4 |
3 | g.15644423T>G | CA351606410 | BTD | c.507T>G (p.Asp169Glu) c.399+2366T>G (n.399+2366T>G) c.165+2366T>G (n.165+2366T>G) c.567T>G (p.Asp189Glu) c.573T>G (p.Asp191Glu) c.285T>G (p.Asp95Glu) c.*2285T>G (n.*2285T>G) | |
3 | g.15644424G>A | CA351606413 | BTD | c.508G>A (p.Gly170Arg) c.399+2367G>A (n.399+2367G>A) c.165+2367G>A (n.165+2367G>A) c.568G>A (p.Gly190Arg) c.574G>A (p.Gly192Arg) c.286G>A (p.Gly96Arg) c.*2286G>A (n.*2286G>A) | |
3 | g.15644424G>C | CA351606415 | BTD | c.508G>C (p.Gly170Arg) c.399+2367G>C (n.399+2367G>C) c.165+2367G>C (n.165+2367G>C) c.568G>C (p.Gly190Arg) c.574G>C (p.Gly192Arg) c.286G>C (p.Gly96Arg) c.*2286G>C (n.*2286G>C) | |
3 | g.15644424G>T | CA351606416 | BTD | c.508G>T (p.Gly170Trp) c.399+2367G>T (n.399+2367G>T) c.165+2367G>T (n.165+2367G>T) c.568G>T (p.Gly190Trp) c.574G>T (p.Gly192Trp) c.286G>T (p.Gly96Trp) c.*2286G>T (n.*2286G>T) | |
3 | g.15644425G>A | CA351606419 | BTD | c.509G>A (p.Gly170Glu) c.399+2368G>A (n.399+2368G>A) c.165+2368G>A (n.165+2368G>A) c.569G>A (p.Gly190Glu) c.575G>A (p.Gly192Glu) c.287G>A (p.Gly96Glu) c.*2287G>A (n.*2287G>A) | |
3 | g.15644425G>C | CA351606422 | BTD | c.509G>C (p.Gly170Ala) c.399+2368G>C (n.399+2368G>C) c.165+2368G>C (n.165+2368G>C) c.569G>C (p.Gly190Ala) c.575G>C (p.Gly192Ala) c.287G>C (p.Gly96Ala) c.*2287G>C (n.*2287G>C) | |
3 | g.15644425G>T | CA351606421 | BTD | c.509G>T (p.Gly170Val) c.399+2368G>T (n.399+2368G>T) c.165+2368G>T (n.165+2368G>T) c.569G>T (p.Gly190Val) c.575G>T (p.Gly192Val) c.287G>T (p.Gly96Val) c.*2287G>T (n.*2287G>T) | |
3 | g.15644426G>A | CA432819183 | BTD | c.510G>A (p.Gly170=) c.399+2369G>A (n.399+2369G>A) c.165+2369G>A (n.165+2369G>A) c.570G>A (p.Gly190=) c.576G>A (p.Gly192=) c.288G>A (p.Gly96=) c.*2288G>A (n.*2288G>A) | dbSNP gnomAD v2 |
3 | g.15644426G>C | CA432819186 | BTD | c.510G>C (p.Gly170=) c.399+2369G>C (n.399+2369G>C) c.165+2369G>C (n.165+2369G>C) c.570G>C (p.Gly190=) c.576G>C (p.Gly192=) c.288G>C (p.Gly96=) c.*2288G>C (n.*2288G>C) | |
3 | g.15644426G= | CA1347663635 | BTD | c.510G= (p.Gly170=) c.399+2369G= (n.399+2369G=) c.165+2369G= (n.165+2369G=) c.570G= (p.Gly190=) c.576G= (p.Gly192=) c.288G= (p.Gly96=) c.*2288G= (n.*2288G=) | |
3 | g.15644426G>T | CA432819184 | BTD | c.510G>T (p.Gly170=) c.399+2369G>T (n.399+2369G>T) c.165+2369G>T (n.165+2369G>T) c.570G>T (p.Gly190=) c.576G>T (p.Gly192=) c.288G>T (p.Gly96=) c.*2288G>T (n.*2288G>T) | |
3 | g.15644427A>C | CA432819193 | BTD | c.511A>C (p.Arg171=) c.399+2370A>C (n.399+2370A>C) c.165+2370A>C (n.165+2370A>C) c.571A>C (p.Arg191=) c.577A>C (p.Arg193=) c.289A>C (p.Arg97=) c.*2289A>C (n.*2289A>C) | |
3 | g.15644427A>G | CA351606425 | BTD | c.511A>G (p.Arg171Gly) c.399+2370A>G (n.399+2370A>G) c.165+2370A>G (n.165+2370A>G) c.571A>G (p.Arg191Gly) c.577A>G (p.Arg193Gly) c.289A>G (p.Arg97Gly) c.*2289A>G (n.*2289A>G) | |
3 | g.15644427A>T | CA351606427 | BTD | c.511A>T (p.Arg171Ter) c.399+2370A>T (n.399+2370A>T) c.165+2370A>T (n.165+2370A>T) c.571A>T (p.Arg191Ter) c.577A>T (p.Arg193Ter) c.289A>T (p.Arg97Ter) c.*2289A>T (n.*2289A>T) | |
3 | g.15644428G>A | CA351606429 | BTD | c.512G>A (p.Arg171Lys) c.399+2371G>A (n.399+2371G>A) c.165+2371G>A (n.165+2371G>A) c.572G>A (p.Arg191Lys) c.578G>A (p.Arg193Lys) c.290G>A (p.Arg97Lys) c.*2290G>A (n.*2290G>A) | |
3 | g.15644428G>C | CA351606430 | BTD | c.512G>C (p.Arg171Thr) c.399+2371G>C (n.399+2371G>C) c.165+2371G>C (n.165+2371G>C) c.572G>C (p.Arg191Thr) c.578G>C (p.Arg193Thr) c.290G>C (p.Arg97Thr) c.*2290G>C (n.*2290G>C) | |
3 | g.15644428G>T | CA351606433 | BTD | c.512G>T (p.Arg171Ile) c.399+2371G>T (n.399+2371G>T) c.165+2371G>T (n.165+2371G>T) c.572G>T (p.Arg191Ile) c.578G>T (p.Arg193Ile) c.290G>T (p.Arg97Ile) c.*2290G>T (n.*2290G>T) | |
3 | g.15644429A>C | CA351606435 | BTD | c.513A>C (p.Arg171Ser) c.399+2372A>C (n.399+2372A>C) c.165+2372A>C (n.165+2372A>C) c.573A>C (p.Arg191Ser) c.579A>C (p.Arg193Ser) c.291A>C (p.Arg97Ser) c.*2291A>C (n.*2291A>C) | |
3 | g.15644429A>G | CA432819201 | BTD | c.513A>G (p.Arg171=) c.399+2372A>G (n.399+2372A>G) c.165+2372A>G (n.165+2372A>G) c.573A>G (p.Arg191=) c.579A>G (p.Arg193=) c.291A>G (p.Arg97=) c.*2291A>G (n.*2291A>G) | |
3 | g.15644429A>T | CA351606437 | BTD | c.513A>T (p.Arg171Ser) c.399+2372A>T (n.399+2372A>T) c.165+2372A>T (n.165+2372A>T) c.573A>T (p.Arg191Ser) c.579A>T (p.Arg193Ser) c.291A>T (p.Arg97Ser) c.*2291A>T (n.*2291A>T) | |
3 | g.15644430T>A | CA351606440 | BTD | c.514T>A (p.Tyr172Asn) c.399+2373T>A (n.399+2373T>A) c.165+2373T>A (n.165+2373T>A) c.574T>A (p.Tyr192Asn) c.580T>A (p.Tyr194Asn) c.292T>A (p.Tyr98Asn) c.*2292T>A (n.*2292T>A) | |
3 | g.15644430T>C | CA351606441 | BTD | c.514T>C (p.Tyr172His) c.399+2373T>C (n.399+2373T>C) c.165+2373T>C (n.165+2373T>C) c.574T>C (p.Tyr192His) c.580T>C (p.Tyr194His) c.292T>C (p.Tyr98His) c.*2292T>C (n.*2292T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644430T>G | CA351606442 | BTD | c.514T>G (p.Tyr172Asp) c.399+2373T>G (n.399+2373T>G) c.165+2373T>G (n.165+2373T>G) c.574T>G (p.Tyr192Asp) c.580T>G (p.Tyr194Asp) c.292T>G (p.Tyr98Asp) c.*2292T>G (n.*2292T>G) | |
3 | g.15644430T= | CA1347663638 | BTD | c.514T= (p.Tyr172=) c.399+2373T= (n.399+2373T=) c.165+2373T= (n.165+2373T=) c.574T= (p.Tyr192=) c.580T= (p.Tyr194=) c.292T= (p.Tyr98=) c.*2292T= (n.*2292T=) | |
3 | g.15644431A>C | CA351606449 | BTD | c.515A>C (p.Tyr172Ser) c.399+2374A>C (n.399+2374A>C) c.165+2374A>C (n.165+2374A>C) c.575A>C (p.Tyr192Ser) c.581A>C (p.Tyr194Ser) c.293A>C (p.Tyr98Ser) c.*2293A>C (n.*2293A>C) | |
3 | g.15644431A>G | CA351606447 | BTD | c.515A>G (p.Tyr172Cys) c.399+2374A>G (n.399+2374A>G) c.165+2374A>G (n.165+2374A>G) c.575A>G (p.Tyr192Cys) c.581A>G (p.Tyr194Cys) c.293A>G (p.Tyr98Cys) c.*2293A>G (n.*2293A>G) | |
3 | g.15644431A>T | CA351606445 | BTD | c.515A>T (p.Tyr172Phe) c.399+2374A>T (n.399+2374A>T) c.165+2374A>T (n.165+2374A>T) c.575A>T (p.Tyr192Phe) c.581A>T (p.Tyr194Phe) c.293A>T (p.Tyr98Phe) c.*2293A>T (n.*2293A>T) | |
3 | g.15644431dup | CA2664667149 | BTD | c.515dup (p.Tyr172Ter) c.399+2374dup (n.399+2374dup) c.165+2374dup (n.165+2374dup) c.575dup (p.Tyr192Ter) c.581dup (p.Tyr194Ter) c.293dup (p.Tyr98Ter) c.*2293dup (n.*2293dup) | gnomAD v4 |
3 | g.15644432C>A | CA2277342 | BTD | c.516C>A (p.Tyr172Ter) c.399+2375C>A (n.399+2375C>A) c.165+2375C>A (n.165+2375C>A) c.576C>A (p.Tyr192Ter) c.582C>A (p.Tyr194Ter) c.294C>A (p.Tyr98Ter) c.*2294C>A (n.*2294C>A) | ClinVar dbSNP ExAC |
3 | g.15644432C= | CA1347663639 | BTD | c.516C= (p.Tyr172=) c.399+2375C= (n.399+2375C=) c.165+2375C= (n.165+2375C=) c.576C= (p.Tyr192=) c.582C= (p.Tyr194=) c.294C= (p.Tyr98=) c.*2294C= (n.*2294C=) | |
3 | g.15644432C>G | CA351606452 | BTD | c.516C>G (p.Tyr172Ter) c.399+2375C>G (n.399+2375C>G) c.165+2375C>G (n.165+2375C>G) c.576C>G (p.Tyr192Ter) c.582C>G (p.Tyr194Ter) c.294C>G (p.Tyr98Ter) c.*2294C>G (n.*2294C>G) | |
3 | g.15644432C>T | CA432819206 | BTD | c.516C>T (p.Tyr172=) c.399+2375C>T (n.399+2375C>T) c.165+2375C>T (n.165+2375C>T) c.576C>T (p.Tyr192=) c.582C>T (p.Tyr194=) c.294C>T (p.Tyr98=) c.*2294C>T (n.*2294C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644433C>A | CA351606454 | BTD | c.517C>A (p.Gln173Lys) c.399+2376C>A (n.399+2376C>A) c.165+2376C>A (n.165+2376C>A) c.577C>A (p.Gln193Lys) c.583C>A (p.Gln195Lys) c.295C>A (p.Gln99Lys) c.*2295C>A (n.*2295C>A) | |
3 | g.15644433C>G | CA351606456 | BTD | c.517C>G (p.Gln173Glu) c.399+2376C>G (n.399+2376C>G) c.165+2376C>G (n.165+2376C>G) c.577C>G (p.Gln193Glu) c.583C>G (p.Gln195Glu) c.295C>G (p.Gln99Glu) c.*2295C>G (n.*2295C>G) | |
3 | g.15644433C>T | CA351606457 | BTD | c.517C>T (p.Gln173Ter) c.399+2376C>T (n.399+2376C>T) c.165+2376C>T (n.165+2376C>T) c.577C>T (p.Gln193Ter) c.583C>T (p.Gln195Ter) c.295C>T (p.Gln99Ter) c.*2295C>T (n.*2295C>T) | |
3 | g.15644434A= | CA1347663644 | BTD | c.518A= (p.Gln173=) c.399+2377A= (n.399+2377A=) c.165+2377A= (n.165+2377A=) c.578A= (p.Gln193=) c.584A= (p.Gln195=) c.296A= (p.Gln99=) c.*2296A= (n.*2296A=) | |
3 | g.15644434A>C | CA351606460 | BTD | c.518A>C (p.Gln173Pro) c.399+2377A>C (n.399+2377A>C) c.165+2377A>C (n.165+2377A>C) c.578A>C (p.Gln193Pro) c.584A>C (p.Gln195Pro) c.296A>C (p.Gln99Pro) c.*2296A>C (n.*2296A>C) | |
3 | g.15644434A>G | CA351606461 | BTD | c.518A>G (p.Gln173Arg) c.399+2377A>G (n.399+2377A>G) c.165+2377A>G (n.165+2377A>G) c.578A>G (p.Gln193Arg) c.584A>G (p.Gln195Arg) c.296A>G (p.Gln99Arg) c.*2296A>G (n.*2296A>G) | dbSNP |
3 | g.15644434A>T | CA351606463 | BTD | c.518A>T (p.Gln173Leu) c.399+2377A>T (n.399+2377A>T) c.165+2377A>T (n.165+2377A>T) c.578A>T (p.Gln193Leu) c.584A>T (p.Gln195Leu) c.296A>T (p.Gln99Leu) c.*2296A>T (n.*2296A>T) | |
3 | g.15644434_15644437delinsAGTT | CA1347663642 | BTD | c.518_521delinsAGTT (p.Gln173=) c.399+2377_399+2380delinsAGTT (n.399+2377_399+2380delinsAGTT) c.165+2377_165+2380delinsAGTT (n.165+2377_165+2380delinsAGTT) c.578_581delinsAGTT (p.Gln193=) c.584_587delinsAGTT (p.Gln195=) c.296_299delinsAGTT (p.Gln99=) c.*2296_*2299delinsAGTT (n.*2296_*2299delinsAGTT) | |
3 | g.15644435G>A | CA432819214 | BTD | c.519G>A (p.Gln173=) c.399+2378G>A (n.399+2378G>A) c.165+2378G>A (n.165+2378G>A) c.579G>A (p.Gln193=) c.585G>A (p.Gln195=) c.297G>A (p.Gln99=) c.*2297G>A (n.*2297G>A) | gnomAD v4 |
3 | g.15644435G>C | CA351606465 | BTD | c.519G>C (p.Gln173His) c.399+2378G>C (n.399+2378G>C) c.165+2378G>C (n.165+2378G>C) c.579G>C (p.Gln193His) c.585G>C (p.Gln195His) c.297G>C (p.Gln99His) c.*2297G>C (n.*2297G>C) | |
3 | g.15644435G>T | CA351606466 | BTD | c.519G>T (p.Gln173His) c.399+2378G>T (n.399+2378G>T) c.165+2378G>T (n.165+2378G>T) c.579G>T (p.Gln193His) c.585G>T (p.Gln195His) c.297G>T (p.Gln99His) c.*2297G>T (n.*2297G>T) | |
3 | g.15644435_15644437del | CA70621580 | BTD | c.519_521del (p.Gln173_Phe174delinsHis) c.399+2378_399+2380del (n.399+2378_399+2380del) c.165+2378_165+2380del (n.165+2378_165+2380del) c.579_581del (p.Gln193_Phe194delinsHis) c.585_587del (p.Gln195_Phe196delinsHis) c.297_299del (p.Gln99_Phe100delinsHis) c.*2297_*2299del (n.*2297_*2299del) | dbSNP |
3 | g.15644436T>A | CA351606470 | BTD | c.520T>A (p.Phe174Ile) c.399+2379T>A (n.399+2379T>A) c.165+2379T>A (n.165+2379T>A) c.580T>A (p.Phe194Ile) c.586T>A (p.Phe196Ile) c.298T>A (p.Phe100Ile) c.*2298T>A (n.*2298T>A) | |
3 | g.15644436T>C | CA351606471 | BTD | c.520T>C (p.Phe174Leu) c.399+2379T>C (n.399+2379T>C) c.165+2379T>C (n.165+2379T>C) c.580T>C (p.Phe194Leu) c.586T>C (p.Phe196Leu) c.298T>C (p.Phe100Leu) c.*2298T>C (n.*2298T>C) | |
3 | g.15644436T>G | CA351606473 | BTD | c.520T>G (p.Phe174Val) c.399+2379T>G (n.399+2379T>G) c.165+2379T>G (n.165+2379T>G) c.580T>G (p.Phe194Val) c.586T>G (p.Phe196Val) c.298T>G (p.Phe100Val) c.*2298T>G (n.*2298T>G) | |
3 | g.15644437T>A | CA351606478 | BTD | c.521T>A (p.Phe174Tyr) c.399+2380T>A (n.399+2380T>A) c.165+2380T>A (n.165+2380T>A) c.581T>A (p.Phe194Tyr) c.587T>A (p.Phe196Tyr) c.299T>A (p.Phe100Tyr) c.*2299T>A (n.*2299T>A) | |
3 | g.15644437T>C | CA351606475 | BTD | c.521T>C (p.Phe174Ser) c.399+2380T>C (n.399+2380T>C) c.165+2380T>C (n.165+2380T>C) c.581T>C (p.Phe194Ser) c.587T>C (p.Phe196Ser) c.299T>C (p.Phe100Ser) c.*2299T>C (n.*2299T>C) | |
3 | g.15644437T>G | CA351606477 | BTD | c.521T>G (p.Phe174Cys) c.399+2380T>G (n.399+2380T>G) c.165+2380T>G (n.165+2380T>G) c.581T>G (p.Phe194Cys) c.587T>G (p.Phe196Cys) c.299T>G (p.Phe100Cys) c.*2299T>G (n.*2299T>G) | |
3 | g.15644438C>A | CA351606480 | BTD | c.522C>A (p.Phe174Leu) c.399+2381C>A (n.399+2381C>A) c.165+2381C>A (n.165+2381C>A) c.582C>A (p.Phe194Leu) c.588C>A (p.Phe196Leu) c.300C>A (p.Phe100Leu) c.*2300C>A (n.*2300C>A) | |
3 | g.15644438C= | CA1347663647 | BTD | c.522C= (p.Phe174=) c.399+2381C= (n.399+2381C=) c.165+2381C= (n.165+2381C=) c.582C= (p.Phe194=) c.588C= (p.Phe196=) c.300C= (p.Phe100=) c.*2300C= (n.*2300C=) | |
3 | g.15644438C>G | CA351606482 | BTD | c.522C>G (p.Phe174Leu) c.399+2381C>G (n.399+2381C>G) c.165+2381C>G (n.165+2381C>G) c.582C>G (p.Phe194Leu) c.588C>G (p.Phe196Leu) c.300C>G (p.Phe100Leu) c.*2300C>G (n.*2300C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644438C>T | CA2277343 | BTD | c.522C>T (p.Phe174=) c.399+2381C>T (n.399+2381C>T) c.165+2381C>T (n.165+2381C>T) c.582C>T (p.Phe194=) c.588C>T (p.Phe196=) c.300C>T (p.Phe100=) c.*2300C>T (n.*2300C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644439A= | CA1347663655 | BTD | c.523A= (p.Asn175=) c.399+2382A= (n.399+2382A=) c.165+2382A= (n.165+2382A=) c.583A= (p.Asn195=) c.589A= (p.Asn197=) c.301A= (p.Asn101=) c.*2301A= (n.*2301A=) | |
3 | g.15644439A>C | CA351606486 | BTD | c.523A>C (p.Asn175His) c.399+2382A>C (n.399+2382A>C) c.165+2382A>C (n.165+2382A>C) c.583A>C (p.Asn195His) c.589A>C (p.Asn197His) c.301A>C (p.Asn101His) c.*2301A>C (n.*2301A>C) | |
3 | g.15644439A>G | CA278225 | BTD | c.523A>G (p.Asn175Asp) c.399+2382A>G (n.399+2382A>G) c.165+2382A>G (n.165+2382A>G) c.583A>G (p.Asn195Asp) c.589A>G (p.Asn197Asp) c.301A>G (p.Asn101Asp) c.*2301A>G (n.*2301A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644439A>T | CA351606488 | BTD | c.523A>T (p.Asn175Tyr) c.399+2382A>T (n.399+2382A>T) c.165+2382A>T (n.165+2382A>T) c.583A>T (p.Asn195Tyr) c.589A>T (p.Asn197Tyr) c.301A>T (p.Asn101Tyr) c.*2301A>T (n.*2301A>T) | |
3 | g.15644440A= | CA1347663658 | BTD | c.524A= (p.Asn175=) c.399+2383A= (n.399+2383A=) c.165+2383A= (n.165+2383A=) c.584A= (p.Asn195=) c.590A= (p.Asn197=) c.302A= (p.Asn101=) c.*2302A= (n.*2302A=) | |
3 | g.15644440A>C | CA351606490 | BTD | c.524A>C (p.Asn175Thr) c.399+2383A>C (n.399+2383A>C) c.165+2383A>C (n.165+2383A>C) c.584A>C (p.Asn195Thr) c.590A>C (p.Asn197Thr) c.302A>C (p.Asn101Thr) c.*2302A>C (n.*2302A>C) | |
3 | g.15644440A>G | CA278227 | BTD | c.524A>G (p.Asn175Ser) c.399+2383A>G (n.399+2383A>G) c.165+2383A>G (n.165+2383A>G) c.584A>G (p.Asn195Ser) c.590A>G (p.Asn197Ser) c.302A>G (p.Asn101Ser) c.*2302A>G (n.*2302A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644440A>T | CA351606492 | BTD | c.524A>T (p.Asn175Ile) c.399+2383A>T (n.399+2383A>T) c.165+2383A>T (n.165+2383A>T) c.584A>T (p.Asn195Ile) c.590A>T (p.Asn197Ile) c.302A>T (p.Asn101Ile) c.*2302A>T (n.*2302A>T) | |
3 | g.15644441C>A | CA351606494 | BTD | c.525C>A (p.Asn175Lys) c.399+2384C>A (n.399+2384C>A) c.165+2384C>A (n.165+2384C>A) c.585C>A (p.Asn195Lys) c.591C>A (p.Asn197Lys) c.303C>A (p.Asn101Lys) c.*2303C>A (n.*2303C>A) | |
3 | g.15644441C>G | CA351606495 | BTD | c.525C>G (p.Asn175Lys) c.399+2384C>G (n.399+2384C>G) c.165+2384C>G (n.165+2384C>G) c.585C>G (p.Asn195Lys) c.591C>G (p.Asn197Lys) c.303C>G (p.Asn101Lys) c.*2303C>G (n.*2303C>G) | |
3 | g.15644441C>T | CA432819227 | BTD | c.525C>T (p.Asn175=) c.399+2384C>T (n.399+2384C>T) c.165+2384C>T (n.165+2384C>T) c.585C>T (p.Asn195=) c.591C>T (p.Asn197=) c.303C>T (p.Asn101=) c.*2303C>T (n.*2303C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.15644442A= | CA1347663662 | BTD | c.526A= (p.Thr176=) c.399+2385A= (n.399+2385A=) c.165+2385A= (n.165+2385A=) c.586A= (p.Thr196=) c.592A= (p.Thr198=) c.304A= (p.Thr102=) c.*2304A= (n.*2304A=) | |
3 | g.15644442A>C | CA351606499 | BTD | c.526A>C (p.Thr176Pro) c.399+2385A>C (n.399+2385A>C) c.165+2385A>C (n.165+2385A>C) c.586A>C (p.Thr196Pro) c.592A>C (p.Thr198Pro) c.304A>C (p.Thr102Pro) c.*2304A>C (n.*2304A>C) | |
3 | g.15644442A>G | CA70621611 | BTD | c.526A>G (p.Thr176Ala) c.399+2385A>G (n.399+2385A>G) c.165+2385A>G (n.165+2385A>G) c.586A>G (p.Thr196Ala) c.592A>G (p.Thr198Ala) c.304A>G (p.Thr102Ala) c.*2304A>G (n.*2304A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644442A>T | CA351606497 | BTD | c.526A>T (p.Thr176Ser) c.399+2385A>T (n.399+2385A>T) c.165+2385A>T (n.165+2385A>T) c.586A>T (p.Thr196Ser) c.592A>T (p.Thr198Ser) c.304A>T (p.Thr102Ser) c.*2304A>T (n.*2304A>T) | |
3 | g.15644442_15644443delinsAC | CA1347663663 | BTD | c.526_527delinsAC (p.Thr176=) c.399+2385_399+2386delinsAC (n.399+2385_399+2386delinsAC) c.165+2385_165+2386delinsAC (n.165+2385_165+2386delinsAC) c.586_587delinsAC (p.Thr196=) c.592_593delinsAC (p.Thr198=) c.304_305delinsAC (p.Thr102=) c.*2304_*2305delinsAC (n.*2304_*2305delinsAC) | |
3 | g.15644443del | CA658796245 | BTD | c.527del (p.Thr176LysfsTer?) c.399+2386del (n.399+2386del) c.165+2386del (n.165+2386del) c.587del (p.Thr196LysfsTer?) c.593del (p.Thr198LysfsTer?) c.305del (p.Thr102LysfsTer?) c.*2305del (n.*2305del) | ClinVar dbSNP |
3 | g.15644443C>A | CA351606502 | BTD | c.527C>A (p.Thr176Lys) c.399+2386C>A (n.399+2386C>A) c.165+2386C>A (n.165+2386C>A) c.587C>A (p.Thr196Lys) c.593C>A (p.Thr198Lys) c.305C>A (p.Thr102Lys) c.*2305C>A (n.*2305C>A) | |
3 | g.15644443C= | CA1347663672 | BTD | c.527C= (p.Thr176=) c.399+2386C= (n.399+2386C=) c.165+2386C= (n.165+2386C=) c.587C= (p.Thr196=) c.593C= (p.Thr198=) c.305C= (p.Thr102=) c.*2305C= (n.*2305C=) | |
3 | g.15644443C>G | CA278229 | BTD | c.527C>G (p.Thr176Arg) c.399+2386C>G (n.399+2386C>G) c.165+2386C>G (n.165+2386C>G) c.587C>G (p.Thr196Arg) c.593C>G (p.Thr198Arg) c.305C>G (p.Thr102Arg) c.*2305C>G (n.*2305C>G) | dbSNP gnomAD v4 |
3 | g.15644443C>T | CA351606506 | BTD | c.527C>T (p.Thr176Ile) c.399+2386C>T (n.399+2386C>T) c.165+2386C>T (n.165+2386C>T) c.587C>T (p.Thr196Ile) c.593C>T (p.Thr198Ile) c.305C>T (p.Thr102Ile) c.*2305C>T (n.*2305C>T) | |
3 | g.15644443_15644458delinsCAAATGTCGTGTTCAG | CA1347663677 | BTD | c.527_542delinsCAAATGTCGTGTTCAG (p.Thr176=) c.399+2386_399+2401delinsCAAATGTCGTGTTCAG (n.399+2386_399+2401delinsCAAATGTCGTGTTCAG) c.165+2386_165+2401delinsCAAATGTCGTGTTCAG (n.165+2386_165+2401delinsCAAATGTCGTGTTCAG) c.587_602delinsCAAATGTCGTGTTCAG (p.Thr196=) c.593_608delinsCAAATGTCGTGTTCAG (p.Thr198=) c.305_320delinsCAAATGTCGTGTTCAG (p.Thr102=) c.*2305_*2320delinsCAAATGTCGTGTTCAG (n.*2305_*2320delinsCAAATGTCGTGTTCAG) | |
3 | g.15644444A>C | CA432819235 | BTD | c.528A>C (p.Thr176=) c.399+2387A>C (n.399+2387A>C) c.165+2387A>C (n.165+2387A>C) c.588A>C (p.Thr196=) c.594A>C (p.Thr198=) c.306A>C (p.Thr102=) c.*2306A>C (n.*2306A>C) | |
3 | g.15644444A>G | CA432819237 | BTD | c.528A>G (p.Thr176=) c.399+2387A>G (n.399+2387A>G) c.165+2387A>G (n.165+2387A>G) c.588A>G (p.Thr196=) c.594A>G (p.Thr198=) c.306A>G (p.Thr102=) c.*2306A>G (n.*2306A>G) | COSMIC |
3 | g.15644444A>T | CA432819238 | BTD | c.528A>T (p.Thr176=) c.399+2387A>T (n.399+2387A>T) c.165+2387A>T (n.165+2387A>T) c.588A>T (p.Thr196=) c.594A>T (p.Thr198=) c.306A>T (p.Thr102=) c.*2306A>T (n.*2306A>T) | |
3 | g.15644444_15644458del | CA915941880 | BTD | c.528_542del (p.Asn177_Ser181del) c.399+2387_399+2401del (n.399+2387_399+2401del) c.165+2387_165+2401del (n.165+2387_165+2401del) c.588_602del (p.Asn197_Ser201del) c.594_608del (p.Asn199_Ser203del) c.306_320del (p.Asn103_Ser107del) c.*2306_*2320del (n.*2306_*2320del) | ClinVar dbSNP |
3 | g.15644445A= | CA1347663687 | BTD | c.529A= (p.Asn177=) c.399+2388A= (n.399+2388A=) c.165+2388A= (n.165+2388A=) c.589A= (p.Asn197=) c.595A= (p.Asn199=) c.307A= (p.Asn103=) c.*2307A= (n.*2307A=) | |
3 | g.15644445A>C | CA351606508 | BTD | c.529A>C (p.Asn177His) c.399+2388A>C (n.399+2388A>C) c.165+2388A>C (n.165+2388A>C) c.589A>C (p.Asn197His) c.595A>C (p.Asn199His) c.307A>C (p.Asn103His) c.*2307A>C (n.*2307A>C) | |
3 | g.15644445A>G | CA2277344 | BTD | c.529A>G (p.Asn177Asp) c.399+2388A>G (n.399+2388A>G) c.165+2388A>G (n.165+2388A>G) c.589A>G (p.Asn197Asp) c.595A>G (p.Asn199Asp) c.307A>G (p.Asn103Asp) c.*2307A>G (n.*2307A>G) | dbSNP ExAC gnomAD v2 |
3 | g.15644445A>T | CA351606511 | BTD | c.529A>T (p.Asn177Tyr) c.399+2388A>T (n.399+2388A>T) c.165+2388A>T (n.165+2388A>T) c.589A>T (p.Asn197Tyr) c.595A>T (p.Asn199Tyr) c.307A>T (p.Asn103Tyr) c.*2307A>T (n.*2307A>T) | dbSNP |
3 | g.15644446A>C | CA351606517 | BTD | c.530A>C (p.Asn177Thr) c.399+2389A>C (n.399+2389A>C) c.165+2389A>C (n.165+2389A>C) c.590A>C (p.Asn197Thr) c.596A>C (p.Asn199Thr) c.308A>C (p.Asn103Thr) c.*2308A>C (n.*2308A>C) | |
3 | g.15644446A>G | CA351606513 | BTD | c.530A>G (p.Asn177Ser) c.399+2389A>G (n.399+2389A>G) c.165+2389A>G (n.165+2389A>G) c.590A>G (p.Asn197Ser) c.596A>G (p.Asn199Ser) c.308A>G (p.Asn103Ser) c.*2308A>G (n.*2308A>G) | |
3 | g.15644446A>T | CA351606516 | BTD | c.530A>T (p.Asn177Ile) c.399+2389A>T (n.399+2389A>T) c.165+2389A>T (n.165+2389A>T) c.590A>T (p.Asn197Ile) c.596A>T (p.Asn199Ile) c.308A>T (p.Asn103Ile) c.*2308A>T (n.*2308A>T) | |
3 | g.15644447T>A | CA351606520 | BTD | c.531T>A (p.Asn177Lys) c.399+2390T>A (n.399+2390T>A) c.165+2390T>A (n.165+2390T>A) c.591T>A (p.Asn197Lys) c.597T>A (p.Asn199Lys) c.309T>A (p.Asn103Lys) c.*2309T>A (n.*2309T>A) | |
3 | g.15644447T>C | CA432819247 | BTD | c.531T>C (p.Asn177=) c.399+2390T>C (n.399+2390T>C) c.165+2390T>C (n.165+2390T>C) c.591T>C (p.Asn197=) c.597T>C (p.Asn199=) c.309T>C (p.Asn103=) c.*2309T>C (n.*2309T>C) | |
3 | g.15644447T>G | CA351606522 | BTD | c.531T>G (p.Asn177Lys) c.399+2390T>G (n.399+2390T>G) c.165+2390T>G (n.165+2390T>G) c.591T>G (p.Asn197Lys) c.597T>G (p.Asn199Lys) c.309T>G (p.Asn103Lys) c.*2309T>G (n.*2309T>G) | |
3 | g.15644447_15644450delinsTGTC | CA1347663689 | BTD | c.531_534delinsTGTC (p.Asn177=) c.399+2390_399+2393delinsTGTC (n.399+2390_399+2393delinsTGTC) c.165+2390_165+2393delinsTGTC (n.165+2390_165+2393delinsTGTC) c.591_594delinsTGTC (p.Asn197=) c.597_600delinsTGTC (p.Asn199=) c.309_312delinsTGTC (p.Asn103=) c.*2309_*2312delinsTGTC (n.*2309_*2312delinsTGTC) | |
3 | g.15644448G>A | CA2277345 | BTD | c.532G>A (p.Val178Ile) c.399+2391G>A (n.399+2391G>A) c.165+2391G>A (n.165+2391G>A) c.592G>A (p.Val198Ile) c.598G>A (p.Val200Ile) c.310G>A (p.Val104Ile) c.*2310G>A (n.*2310G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644448G>C | CA351606525 | BTD | c.532G>C (p.Val178Leu) c.399+2391G>C (n.399+2391G>C) c.165+2391G>C (n.165+2391G>C) c.592G>C (p.Val198Leu) c.598G>C (p.Val200Leu) c.310G>C (p.Val104Leu) c.*2310G>C (n.*2310G>C) | |
3 | g.15644448G= | CA1347663696 | BTD | c.532G= (p.Val178=) c.399+2391G= (n.399+2391G=) c.165+2391G= (n.165+2391G=) c.592G= (p.Val198=) c.598G= (p.Val200=) c.310G= (p.Val104=) c.*2310G= (n.*2310G=) | |
3 | g.15644448G>T | CA351606527 | BTD | c.532G>T (p.Val178Phe) c.399+2391G>T (n.399+2391G>T) c.165+2391G>T (n.165+2391G>T) c.592G>T (p.Val198Phe) c.598G>T (p.Val200Phe) c.310G>T (p.Val104Phe) c.*2310G>T (n.*2310G>T) | gnomAD v4 |
3 | g.15644450_15644452del | CA278231 | BTD | c.534_536del (p.Val179del) c.399+2393_399+2395del (n.399+2393_399+2395del) c.165+2393_165+2395del (n.165+2393_165+2395del) c.594_596del (p.Val199del) c.600_602del (p.Val201del) c.312_314del (p.Val105del) c.*2312_*2314del (n.*2312_*2314del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644449T>A | CA351606530 | BTD | c.533T>A (p.Val178Asp) c.399+2392T>A (n.399+2392T>A) c.165+2392T>A (n.165+2392T>A) c.593T>A (p.Val198Asp) c.599T>A (p.Val200Asp) c.311T>A (p.Val104Asp) c.*2311T>A (n.*2311T>A) | |
3 | g.15644449T>C | CA351606533 | BTD | c.533T>C (p.Val178Ala) c.399+2392T>C (n.399+2392T>C) c.165+2392T>C (n.165+2392T>C) c.593T>C (p.Val198Ala) c.599T>C (p.Val200Ala) c.311T>C (p.Val104Ala) c.*2311T>C (n.*2311T>C) | |
3 | g.15644449T>G | CA351606531 | BTD | c.533T>G (p.Val178Gly) c.399+2392T>G (n.399+2392T>G) c.165+2392T>G (n.165+2392T>G) c.593T>G (p.Val198Gly) c.599T>G (p.Val200Gly) c.311T>G (p.Val104Gly) c.*2311T>G (n.*2311T>G) | |
3 | g.15644449_15644450delinsTC | CA1347663702 | BTD | c.533_534delinsTC (p.Val178=) c.399+2392_399+2393delinsTC (n.399+2392_399+2393delinsTC) c.165+2392_165+2393delinsTC (n.165+2392_165+2393delinsTC) c.593_594delinsTC (p.Val198=) c.599_600delinsTC (p.Val200=) c.311_312delinsTC (p.Val104=) c.*2311_*2312delinsTC (n.*2311_*2312delinsTC) | |
3 | g.15644450del | CA278234 | BTD | c.534del (p.Val179CysfsTer?) c.399+2393del (n.399+2393del) c.165+2393del (n.165+2393del) c.594del (p.Val199CysfsTer?) c.600del (p.Val201CysfsTer?) c.312del (p.Val105CysfsTer?) c.*2312del (n.*2312del) | dbSNP |
3 | g.15644450C>A | CA432819258 | BTD | c.534C>A (p.Val178=) c.399+2393C>A (n.399+2393C>A) c.165+2393C>A (n.165+2393C>A) c.594C>A (p.Val198=) c.600C>A (p.Val200=) c.312C>A (p.Val104=) c.*2312C>A (n.*2312C>A) | |
3 | g.15644450C= | CA1347663712 | BTD | c.534C= (p.Val178=) c.399+2393C= (n.399+2393C=) c.165+2393C= (n.165+2393C=) c.594C= (p.Val198=) c.600C= (p.Val200=) c.312C= (p.Val104=) c.*2312C= (n.*2312C=) | |
3 | g.15644450C>G | CA432819260 | BTD | c.534C>G (p.Val178=) c.399+2393C>G (n.399+2393C>G) c.165+2393C>G (n.165+2393C>G) c.594C>G (p.Val198=) c.600C>G (p.Val200=) c.312C>G (p.Val104=) c.*2312C>G (n.*2312C>G) | ClinVar dbSNP |
3 | g.15644450C>T | CA2277346 | BTD | c.534C>T (p.Val178=) c.399+2393C>T (n.399+2393C>T) c.165+2393C>T (n.165+2393C>T) c.594C>T (p.Val198=) c.600C>T (p.Val200=) c.312C>T (p.Val104=) c.*2312C>T (n.*2312C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644451G>A | CA278235 | BTD | c.535G>A (p.Val179Met) c.399+2394G>A (n.399+2394G>A) c.165+2394G>A (n.165+2394G>A) c.595G>A (p.Val199Met) c.601G>A (p.Val201Met) c.313G>A (p.Val105Met) c.*2313G>A (n.*2313G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.15644451G>C | CA351606538 | BTD | c.535G>C (p.Val179Leu) c.399+2394G>C (n.399+2394G>C) c.165+2394G>C (n.165+2394G>C) c.595G>C (p.Val199Leu) c.601G>C (p.Val201Leu) c.313G>C (p.Val105Leu) c.*2313G>C (n.*2313G>C) | dbSNP |
3 | g.15644451G= | CA1347663717 | BTD | c.535G= (p.Val179=) c.399+2394G= (n.399+2394G=) c.165+2394G= (n.165+2394G=) c.595G= (p.Val199=) c.601G= (p.Val201=) c.313G= (p.Val105=) c.*2313G= (n.*2313G=) | |
3 | g.15644451G>T | CA351606540 | BTD | c.535G>T (p.Val179Leu) c.399+2394G>T (n.399+2394G>T) c.165+2394G>T (n.165+2394G>T) c.595G>T (p.Val199Leu) c.601G>T (p.Val201Leu) c.313G>T (p.Val105Leu) c.*2313G>T (n.*2313G>T) | gnomAD v4 |
3 | g.15644452T>A | CA351606543 | BTD | c.536T>A (p.Val179Glu) c.399+2395T>A (n.399+2395T>A) c.165+2395T>A (n.165+2395T>A) c.596T>A (p.Val199Glu) c.602T>A (p.Val201Glu) c.314T>A (p.Val105Glu) c.*2314T>A (n.*2314T>A) | gnomAD v4 |
3 | g.15644452T>C | CA351606545 | BTD | c.536T>C (p.Val179Ala) c.399+2395T>C (n.399+2395T>C) c.165+2395T>C (n.165+2395T>C) c.596T>C (p.Val199Ala) c.602T>C (p.Val201Ala) c.314T>C (p.Val105Ala) c.*2314T>C (n.*2314T>C) | |
3 | g.15644452T>G | CA351606547 | BTD | c.536T>G (p.Val179Gly) c.399+2395T>G (n.399+2395T>G) c.165+2395T>G (n.165+2395T>G) c.596T>G (p.Val199Gly) c.602T>G (p.Val201Gly) c.314T>G (p.Val105Gly) c.*2314T>G (n.*2314T>G) | |
3 | g.15644453G>A | CA432819269 | BTD | c.537G>A (p.Val179=) c.399+2396G>A (n.399+2396G>A) c.165+2396G>A (n.165+2396G>A) c.597G>A (p.Val199=) c.603G>A (p.Val201=) c.315G>A (p.Val105=) c.*2315G>A (n.*2315G>A) | dbSNP |
3 | g.15644453G>C | CA432819270 | BTD | c.537G>C (p.Val179=) c.399+2396G>C (n.399+2396G>C) c.165+2396G>C (n.165+2396G>C) c.597G>C (p.Val199=) c.603G>C (p.Val201=) c.315G>C (p.Val105=) c.*2315G>C (n.*2315G>C) | |
3 | g.15644453G= | CA1347663718 | BTD | c.537G= (p.Val179=) c.399+2396G= (n.399+2396G=) c.165+2396G= (n.165+2396G=) c.597G= (p.Val199=) c.603G= (p.Val201=) c.315G= (p.Val105=) c.*2315G= (n.*2315G=) | |
3 | g.15644453G>T | CA432819272 | BTD | c.537G>T (p.Val179=) c.399+2396G>T (n.399+2396G>T) c.165+2396G>T (n.165+2396G>T) c.597G>T (p.Val199=) c.603G>T (p.Val201=) c.315G>T (p.Val105=) c.*2315G>T (n.*2315G>T) | |
3 | g.15644454T>A | CA351606549 | BTD | c.538T>A (p.Phe180Ile) c.399+2397T>A (n.399+2397T>A) c.165+2397T>A (n.165+2397T>A) c.598T>A (p.Phe200Ile) c.604T>A (p.Phe202Ile) c.316T>A (p.Phe106Ile) c.*2316T>A (n.*2316T>A) | |
3 | g.15644454T>C | CA351606550 | BTD | c.538T>C (p.Phe180Leu) c.399+2397T>C (n.399+2397T>C) c.165+2397T>C (n.165+2397T>C) c.598T>C (p.Phe200Leu) c.604T>C (p.Phe202Leu) c.316T>C (p.Phe106Leu) c.*2316T>C (n.*2316T>C) | |
3 | g.15644454T>G | CA351606552 | BTD | c.538T>G (p.Phe180Val) c.399+2397T>G (n.399+2397T>G) c.165+2397T>G (n.165+2397T>G) c.598T>G (p.Phe200Val) c.604T>G (p.Phe202Val) c.316T>G (p.Phe106Val) c.*2316T>G (n.*2316T>G) | |
3 | g.15644455T>A | CA351606556 | BTD | c.539T>A (p.Phe180Tyr) c.399+2398T>A (n.399+2398T>A) c.165+2398T>A (n.165+2398T>A) c.599T>A (p.Phe200Tyr) c.605T>A (p.Phe202Tyr) c.317T>A (p.Phe106Tyr) c.*2317T>A (n.*2317T>A) | |
3 | g.15644455T>C | CA351606558 | BTD | c.539T>C (p.Phe180Ser) c.399+2398T>C (n.399+2398T>C) c.165+2398T>C (n.165+2398T>C) c.599T>C (p.Phe200Ser) c.605T>C (p.Phe202Ser) c.317T>C (p.Phe106Ser) c.*2317T>C (n.*2317T>C) | |
3 | g.15644455T>G | CA351606554 | BTD | c.539T>G (p.Phe180Cys) c.399+2398T>G (n.399+2398T>G) c.165+2398T>G (n.165+2398T>G) c.599T>G (p.Phe200Cys) c.605T>G (p.Phe202Cys) c.317T>G (p.Phe106Cys) c.*2317T>G (n.*2317T>G) | |
3 | g.15644456C>A | CA351606562 | BTD | c.540C>A (p.Phe180Leu) c.399+2399C>A (n.399+2399C>A) c.165+2399C>A (n.165+2399C>A) c.600C>A (p.Phe200Leu) c.606C>A (p.Phe202Leu) c.318C>A (p.Phe106Leu) c.*2318C>A (n.*2318C>A) | |
3 | g.15644456C= | CA1347663719 | BTD | c.540C= (p.Phe180=) c.399+2399C= (n.399+2399C=) c.165+2399C= (n.165+2399C=) c.600C= (p.Phe200=) c.606C= (p.Phe202=) c.318C= (p.Phe106=) c.*2318C= (n.*2318C=) | |
3 | g.15644456C>G | CA351606560 | BTD | c.540C>G (p.Phe180Leu) c.399+2399C>G (n.399+2399C>G) c.165+2399C>G (n.165+2399C>G) c.600C>G (p.Phe200Leu) c.606C>G (p.Phe202Leu) c.318C>G (p.Phe106Leu) c.*2318C>G (n.*2318C>G) | |
3 | g.15644456C>T | CA432819277 | BTD | c.540C>T (p.Phe180=) c.399+2399C>T (n.399+2399C>T) c.165+2399C>T (n.165+2399C>T) c.600C>T (p.Phe200=) c.606C>T (p.Phe202=) c.318C>T (p.Phe106=) c.*2318C>T (n.*2318C>T) | dbSNP |
3 | g.15644457A= | CA1347663721 | BTD | c.541A= (p.Ser181=) c.399+2400A= (n.399+2400A=) c.165+2400A= (n.165+2400A=) c.601A= (p.Ser201=) c.607A= (p.Ser203=) c.319A= (p.Ser107=) c.*2319A= (n.*2319A=) | |
3 | g.15644457A>C | CA351606568 | BTD | c.541A>C (p.Ser181Arg) c.399+2400A>C (n.399+2400A>C) c.165+2400A>C (n.165+2400A>C) c.601A>C (p.Ser201Arg) c.607A>C (p.Ser203Arg) c.319A>C (p.Ser107Arg) c.*2319A>C (n.*2319A>C) | |
3 | g.15644457A>G | CA351606565 | BTD | c.541A>G (p.Ser181Gly) c.399+2400A>G (n.399+2400A>G) c.165+2400A>G (n.165+2400A>G) c.601A>G (p.Ser201Gly) c.607A>G (p.Ser203Gly) c.319A>G (p.Ser107Gly) c.*2319A>G (n.*2319A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644457A>T | CA351606566 | BTD | c.541A>T (p.Ser181Cys) c.399+2400A>T (n.399+2400A>T) c.165+2400A>T (n.165+2400A>T) c.601A>T (p.Ser201Cys) c.607A>T (p.Ser203Cys) c.319A>T (p.Ser107Cys) c.*2319A>T (n.*2319A>T) | |
3 | g.15644458G>A | CA351606571 | BTD | c.542G>A (p.Ser181Asn) c.399+2401G>A (n.399+2401G>A) c.165+2401G>A (n.165+2401G>A) c.602G>A (p.Ser201Asn) c.608G>A (p.Ser203Asn) c.320G>A (p.Ser107Asn) c.*2320G>A (n.*2320G>A) | dbSNP |
3 | g.15644458G>C | CA351606573 | BTD | c.542G>C (p.Ser181Thr) c.399+2401G>C (n.399+2401G>C) c.165+2401G>C (n.165+2401G>C) c.602G>C (p.Ser201Thr) c.608G>C (p.Ser203Thr) c.320G>C (p.Ser107Thr) c.*2320G>C (n.*2320G>C) | |
3 | g.15644458G>T | CA351606575 | BTD | c.542G>T (p.Ser181Ile) c.399+2401G>T (n.399+2401G>T) c.165+2401G>T (n.165+2401G>T) c.602G>T (p.Ser201Ile) c.608G>T (p.Ser203Ile) c.320G>T (p.Ser107Ile) c.*2320G>T (n.*2320G>T) | |
3 | g.15644459C>A | CA351606577 | BTD | c.543C>A (p.Ser181Arg) c.399+2402C>A (n.399+2402C>A) c.165+2402C>A (n.165+2402C>A) c.603C>A (p.Ser201Arg) c.609C>A (p.Ser203Arg) c.321C>A (p.Ser107Arg) c.*2321C>A (n.*2321C>A) | |
3 | g.15644459C>G | CA351606579 | BTD | c.543C>G (p.Ser181Arg) c.399+2402C>G (n.399+2402C>G) c.165+2402C>G (n.165+2402C>G) c.603C>G (p.Ser201Arg) c.609C>G (p.Ser203Arg) c.321C>G (p.Ser107Arg) c.*2321C>G (n.*2321C>G) | |
3 | g.15644459C>T | CA432819283 | BTD | c.543C>T (p.Ser181=) c.399+2402C>T (n.399+2402C>T) c.165+2402C>T (n.165+2402C>T) c.603C>T (p.Ser201=) c.609C>T (p.Ser203=) c.321C>T (p.Ser107=) c.*2321C>T (n.*2321C>T) | |
3 | g.15644460A>C | CA351606581 | BTD | c.544A>C (p.Asn182His) c.399+2403A>C (n.399+2403A>C) c.165+2403A>C (n.165+2403A>C) c.604A>C (p.Asn202His) c.610A>C (p.Asn204His) c.322A>C (p.Asn108His) c.*2322A>C (n.*2322A>C) | |
3 | g.15644460A>G | CA351606582 | BTD | c.544A>G (p.Asn182Asp) c.399+2403A>G (n.399+2403A>G) c.165+2403A>G (n.165+2403A>G) c.604A>G (p.Asn202Asp) c.610A>G (p.Asn204Asp) c.322A>G (p.Asn108Asp) c.*2322A>G (n.*2322A>G) | |
3 | g.15644460A>T | CA351606583 | BTD | c.544A>T (p.Asn182Tyr) c.399+2403A>T (n.399+2403A>T) c.165+2403A>T (n.165+2403A>T) c.604A>T (p.Asn202Tyr) c.610A>T (p.Asn204Tyr) c.322A>T (p.Asn108Tyr) c.*2322A>T (n.*2322A>T) | |
3 | g.15644461A= | CA1347663727 | BTD | c.545A= (p.Asn182=) c.399+2404A= (n.399+2404A=) c.165+2404A= (n.165+2404A=) c.605A= (p.Asn202=) c.611A= (p.Asn204=) c.323A= (p.Asn108=) c.*2323A= (n.*2323A=) | |
3 | g.15644461A>C | CA351606586 | BTD | c.545A>C (p.Asn182Thr) c.399+2404A>C (n.399+2404A>C) c.165+2404A>C (n.165+2404A>C) c.605A>C (p.Asn202Thr) c.611A>C (p.Asn204Thr) c.323A>C (p.Asn108Thr) c.*2323A>C (n.*2323A>C) | gnomAD v4 |
3 | g.15644461A>G | CA2277347 | BTD | c.545A>G (p.Asn182Ser) c.399+2404A>G (n.399+2404A>G) c.165+2404A>G (n.165+2404A>G) c.605A>G (p.Asn202Ser) c.611A>G (p.Asn204Ser) c.323A>G (p.Asn108Ser) c.*2323A>G (n.*2323A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.15644461A>T | CA278237 | BTD | c.545A>T (p.Asn182Ile) c.399+2404A>T (n.399+2404A>T) c.165+2404A>T (n.165+2404A>T) c.605A>T (p.Asn202Ile) c.611A>T (p.Asn204Ile) c.323A>T (p.Asn108Ile) c.*2323A>T (n.*2323A>T) | ClinVar dbSNP |
3 | g.15644462T>A | CA2277348 | BTD | c.546T>A (p.Asn182Lys) c.399+2405T>A (n.399+2405T>A) c.165+2405T>A (n.165+2405T>A) c.606T>A (p.Asn202Lys) c.612T>A (p.Asn204Lys) c.324T>A (p.Asn108Lys) c.*2324T>A (n.*2324T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.15644462T>C | CA432819288 | BTD | c.546T>C (p.Asn182=) c.399+2405T>C (n.399+2405T>C) c.165+2405T>C (n.165+2405T>C) c.606T>C (p.Asn202=) c.612T>C (p.Asn204=) c.324T>C (p.Asn108=) c.*2324T>C (n.*2324T>C) | |
3 | g.15644462T>G | CA351606590 | BTD | c.546T>G (p.Asn182Lys) c.399+2405T>G (n.399+2405T>G) c.165+2405T>G (n.165+2405T>G) c.606T>G (p.Asn202Lys) c.612T>G (p.Asn204Lys) c.324T>G (p.Asn108Lys) c.*2324T>G (n.*2324T>G) | |
3 | g.15644462T= | CA1347663730 | BTD | c.546T= (p.Asn182=) c.399+2405T= (n.399+2405T=) c.165+2405T= (n.165+2405T=) c.606T= (p.Asn202=) c.612T= (p.Asn204=) c.324T= (p.Asn108=) c.*2324T= (n.*2324T=) | |
3 | g.15644463A= | CA1347663734 | BTD | c.547A= (p.Asn183=) c.399+2406A= (n.399+2406A=) c.165+2406A= (n.165+2406A=) c.607A= (p.Asn203=) c.613A= (p.Asn205=) c.325A= (p.Asn109=) c.*2325A= (n.*2325A=) | |
3 | g.15644463A>C | CA351606593 | BTD | c.547A>C (p.Asn183His) c.399+2406A>C (n.399+2406A>C) c.165+2406A>C (n.165+2406A>C) c.607A>C (p.Asn203His) c.613A>C (p.Asn205His) c.325A>C (p.Asn109His) c.*2325A>C (n.*2325A>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644463A>G | CA351606595 | BTD | c.547A>G (p.Asn183Asp) c.399+2406A>G (n.399+2406A>G) c.165+2406A>G (n.165+2406A>G) c.607A>G (p.Asn203Asp) c.613A>G (p.Asn205Asp) c.325A>G (p.Asn109Asp) c.*2325A>G (n.*2325A>G) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.15644463A>T | CA351606597 | BTD | c.547A>T (p.Asn183Tyr) c.399+2406A>T (n.399+2406A>T) c.165+2406A>T (n.165+2406A>T) c.607A>T (p.Asn203Tyr) c.613A>T (p.Asn205Tyr) c.325A>T (p.Asn109Tyr) c.*2325A>T (n.*2325A>T) | |
3 | g.15644464A= | CA1347663739 | BTD | c.548A= (p.Asn183=) c.399+2407A= (n.399+2407A=) c.165+2407A= (n.165+2407A=) c.608A= (p.Asn203=) c.614A= (p.Asn205=) c.326A= (p.Asn109=) c.*2326A= (n.*2326A=) | |
3 | g.15644464A>C | CA351606599 | BTD | c.548A>C (p.Asn183Thr) c.399+2407A>C (n.399+2407A>C) c.165+2407A>C (n.165+2407A>C) c.608A>C (p.Asn203Thr) c.614A>C (p.Asn205Thr) c.326A>C (p.Asn109Thr) c.*2326A>C (n.*2326A>C) | |
3 | g.15644464A>G | CA351606601 | BTD | c.548A>G (p.Asn183Ser) c.399+2407A>G (n.399+2407A>G) c.165+2407A>G (n.165+2407A>G) c.608A>G (p.Asn203Ser) c.614A>G (p.Asn205Ser) c.326A>G (p.Asn109Ser) c.*2326A>G (n.*2326A>G) | |
3 | g.15644464A>T | CA351606603 | BTD | c.548A>T (p.Asn183Ile) c.399+2407A>T (n.399+2407A>T) c.165+2407A>T (n.165+2407A>T) c.608A>T (p.Asn203Ile) c.614A>T (p.Asn205Ile) c.326A>T (p.Asn109Ile) c.*2326A>T (n.*2326A>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.15644465T>A | CA351606604 | BTD | c.549T>A (p.Asn183Lys) c.399+2408T>A (n.399+2408T>A) c.165+2408T>A (n.165+2408T>A) c.609T>A (p.Asn203Lys) c.615T>A (p.Asn205Lys) c.327T>A (p.Asn109Lys) c.*2327T>A (n.*2327T>A) | |
3 | g.15644465T>C | CA432819299 | BTD | c.549T>C (p.Asn183=) c.399+2408T>C (n.399+2408T>C) c.165+2408T>C (n.165+2408T>C) c.609T>C (p.Asn203=) c.615T>C (p.Asn205=) c.327T>C (p.Asn109=) c.*2327T>C (n.*2327T>C) | gnomAD v4 |
3 | g.15644465T>G | CA351606606 | BTD | c.549T>G (p.Asn183Lys) c.399+2408T>G (n.399+2408T>G) c.165+2408T>G (n.165+2408T>G) c.609T>G (p.Asn203Lys) c.615T>G (p.Asn205Lys) c.327T>G (p.Asn109Lys) c.*2327T>G (n.*2327T>G) | |
3 | g.15644466G>A | CA351606608 | BTD | c.550G>A (p.Gly184Arg) c.399+2409G>A (n.399+2409G>A) c.165+2409G>A (n.165+2409G>A) c.610G>A (p.Gly204Arg) c.616G>A (p.Gly206Arg) c.328G>A (p.Gly110Arg) c.*2328G>A (n.*2328G>A) | ClinVar gnomAD v4 |
3 | g.15644466G>C | CA351606610 | BTD | c.550G>C (p.Gly184Arg) c.399+2409G>C (n.399+2409G>C) c.165+2409G>C (n.165+2409G>C) c.610G>C (p.Gly204Arg) c.616G>C (p.Gly206Arg) c.328G>C (p.Gly110Arg) c.*2328G>C (n.*2328G>C) | |
3 | g.15644466G>T | CA351606612 | BTD | c.550G>T (p.Gly184Ter) c.399+2409G>T (n.399+2409G>T) c.165+2409G>T (n.165+2409G>T) c.610G>T (p.Gly204Ter) c.616G>T (p.Gly206Ter) c.328G>T (p.Gly110Ter) c.*2328G>T (n.*2328G>T) | |
3 | g.15644467G>A | CA351606614 | BTD | c.551G>A (p.Gly184Glu) c.399+2410G>A (n.399+2410G>A) c.165+2410G>A (n.165+2410G>A) c.611G>A (p.Gly204Glu) c.617G>A (p.Gly206Glu) c.329G>A (p.Gly110Glu) c.*2329G>A (n.*2329G>A) | COSMIC |
3 | g.15644467G>C | CA351606616 | BTD | c.551G>C (p.Gly184Ala) c.399+2410G>C (n.399+2410G>C) c.165+2410G>C (n.165+2410G>C) c.611G>C (p.Gly204Ala) c.617G>C (p.Gly206Ala) c.329G>C (p.Gly110Ala) c.*2329G>C (n.*2329G>C) | |
3 | g.15644467G>T | CA351606617 | BTD | c.551G>T (p.Gly184Val) c.399+2410G>T (n.399+2410G>T) c.165+2410G>T (n.165+2410G>T) c.611G>T (p.Gly204Val) c.617G>T (p.Gly206Val) c.329G>T (p.Gly110Val) c.*2329G>T (n.*2329G>T) |