Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119674392_119683124del | CA2580082473 | ClinVar | ||
10 | g.119675031_119678711del | CA2580082474 | ClinVar | ||
10 | g.119676433T>C | CA2574694951 | BAG3 | c.910-31T>C (n.910-31T>C) c.736-34T>C (n.736-34T>C) c.910-34T>C (n.910-34T>C) | |
10 | g.119676434T>C | CA5716444 | BAG3 | c.910-30T>C (n.910-30T>C) c.736-33T>C (n.736-33T>C) c.910-33T>C (n.910-33T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676434T= | CA1940196503 | BAG3 | c.910-30T= (n.910-30T=) c.736-33T= (n.736-33T=) c.910-33T= (n.910-33T=) | |
10 | g.119676435A>C | CA2611160279 | BAG3 | c.910-29A>C (n.910-29A>C) c.736-32A>C (n.736-32A>C) c.910-32A>C (n.910-32A>C) | gnomAD v4 |
10 | g.119676435A>G | CA2611160280 | BAG3 | c.910-29A>G (n.910-29A>G) c.736-32A>G (n.736-32A>G) c.910-32A>G (n.910-32A>G) | gnomAD v4 |
10 | g.119676439del | CA2611160278 | BAG3 | c.910-25del (n.910-25del) c.736-28del (n.736-28del) c.910-28del (n.910-28del) | gnomAD v4 |
10 | g.119676437A= | CA1940196504 | BAG3 | c.910-27A= (n.910-27A=) c.736-30A= (n.736-30A=) c.910-30A= (n.910-30A=) | |
10 | g.119676437A>G | CA5716445 | BAG3 | c.910-27A>G (n.910-27A>G) c.736-30A>G (n.736-30A>G) c.910-30A>G (n.910-30A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676440T>C | CA1940196506 | BAG3 | c.910-24T>C (n.910-24T>C) c.736-27T>C (n.736-27T>C) c.910-27T>C (n.910-27T>C) | dbSNP |
10 | g.119676440T>G | CA2574694952 | BAG3 | c.910-24T>G (n.910-24T>G) c.736-27T>G (n.736-27T>G) c.910-27T>G (n.910-27T>G) | |
10 | g.119676440T= | CA1940196505 | BAG3 | c.910-24T= (n.910-24T=) c.736-27T= (n.736-27T=) c.910-27T= (n.910-27T=) | |
10 | g.119676442T>C | CA5716446 | BAG3 | c.910-22T>C (n.910-22T>C) c.736-25T>C (n.736-25T>C) c.910-25T>C (n.910-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676442T= | CA1940196507 | BAG3 | c.910-22T= (n.910-22T=) c.736-25T= (n.736-25T=) c.910-25T= (n.910-25T=) | |
10 | g.119676442_119676443delinsCC | CA214224656 | BAG3 | c.910-22_910-21delinsCC (n.910-22_910-21delinsCC) c.736-25_736-24delinsCC (n.736-25_736-24delinsCC) c.910-25_910-24delinsCC (n.910-25_910-24delinsCC) | dbSNP |
10 | g.119676442_119676443delinsTA | CA1940196508 | BAG3 | c.910-22_910-21delinsTA (n.910-22_910-21delinsTA) c.736-25_736-24delinsTA (n.736-25_736-24delinsTA) c.910-25_910-24delinsTA (n.910-25_910-24delinsTA) | |
10 | g.119676443_119676445del | CA2611160281 | BAG3 | c.910-21_910-19del (n.910-21_910-19del) c.736-24_736-22del (n.736-24_736-22del) c.910-24_910-22del (n.910-24_910-22del) | gnomAD v4 |
10 | g.119676443del | CA2611160282 | BAG3 | c.910-21del (n.910-21del) c.736-24del (n.736-24del) c.910-24del (n.910-24del) | gnomAD v4 |
10 | g.119676443A= | CA1940196509 | BAG3 | c.910-21A= (n.910-21A=) c.736-24A= (n.736-24A=) c.910-24A= (n.910-24A=) | |
10 | g.119676443A>C | CA5716447 | BAG3 | c.910-21A>C (n.910-21A>C) c.736-24A>C (n.736-24A>C) c.910-24A>C (n.910-24A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676443A>G | CA2580972064 | BAG3 | c.910-21A>G (n.910-21A>G) c.736-24A>G (n.736-24A>G) c.910-24A>G (n.910-24A>G) | |
10 | g.119676443A>T | CA1940196510 | BAG3 | c.910-21A>T (n.910-21A>T) c.736-24A>T (n.736-24A>T) c.910-24A>T (n.910-24A>T) | dbSNP gnomAD v4 |
10 | g.119676443_119676444delinsCC | CA2573145583 | BAG3 | c.910-21_910-20delinsCC (n.910-21_910-20delinsCC) c.736-24_736-23delinsCC (n.736-24_736-23delinsCC) c.910-24_910-23delinsCC (n.910-24_910-23delinsCC) | ClinVar dbSNP |
10 | g.119676444T>C | CA2611160283 | BAG3 | c.910-20T>C (n.910-20T>C) c.736-23T>C (n.736-23T>C) c.910-23T>C (n.910-23T>C) | gnomAD v4 |
10 | g.119676448del | CA2740093563 | BAG3 | c.910-16del (n.910-16del) c.736-19del (n.736-19del) c.910-19del (n.910-19del) | ClinVar |
10 | g.119676447T>C | CA2580082412 | BAG3 | c.910-17T>C (n.910-17T>C) c.736-20T>C (n.736-20T>C) c.910-20T>C (n.910-20T>C) | ClinVar |
10 | g.119676449G>A | CA2611160284 | BAG3 | c.910-15G>A (n.910-15G>A) c.736-18G>A (n.736-18G>A) c.910-18G>A (n.910-18G>A) | gnomAD v4 |
10 | g.119676449G>C | CA596578149 | BAG3 | c.910-15G>C (n.910-15G>C) c.736-18G>C (n.736-18G>C) c.910-18G>C (n.910-18G>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676449G= | CA1940196511 | BAG3 | c.910-15G= (n.910-15G=) c.736-18G= (n.736-18G=) c.910-18G= (n.910-18G=) | |
10 | g.119676449G>T | CA596578148 | BAG3 | c.910-15G>T (n.910-15G>T) c.736-18G>T (n.736-18G>T) c.910-18G>T (n.910-18G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676450T>C | CA5716448 | BAG3 | c.910-14T>C (n.910-14T>C) c.736-17T>C (n.736-17T>C) c.910-17T>C (n.910-17T>C) | dbSNP ExAC gnomAD v2 |
10 | g.119676450T>G | CA2611160285 | BAG3 | c.910-14T>G (n.910-14T>G) c.736-17T>G (n.736-17T>G) c.910-17T>G (n.910-17T>G) | gnomAD v4 |
10 | g.119676450T= | CA1940196512 | BAG3 | c.910-14T= (n.910-14T=) c.736-17T= (n.736-17T=) c.910-17T= (n.910-17T=) | |
10 | g.119676451G>A | CA2611160286 | BAG3 | c.910-13G>A (n.910-13G>A) c.736-16G>A (n.736-16G>A) c.910-16G>A (n.910-16G>A) | gnomAD v4 |
10 | g.119676451G= | CA1940196513 | BAG3 | c.910-13G= (n.910-13G=) c.736-16G= (n.736-16G=) c.910-16G= (n.910-16G=) | |
10 | g.119676451G>T | CA596578150 | BAG3 | c.910-13G>T (n.910-13G>T) c.736-16G>T (n.736-16G>T) c.910-16G>T (n.910-16G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676452T>A | CA2611160287 | BAG3 | c.910-12T>A (n.910-12T>A) c.736-15T>A (n.736-15T>A) c.910-15T>A (n.910-15T>A) | gnomAD v4 |
10 | g.119676452T>G | CA2611160288 | BAG3 | c.910-12T>G (n.910-12T>G) c.736-15T>G (n.736-15T>G) c.910-15T>G (n.910-15T>G) | gnomAD v4 |
10 | g.119676453C= | CA1940196514 | BAG3 | c.910-11C= (n.910-11C=) c.736-14C= (n.736-14C=) c.910-14C= (n.910-14C=) | |
10 | g.119676453C>T | CA596578151 | BAG3 | c.910-11C>T (n.910-11C>T) c.736-14C>T (n.736-14C>T) c.910-14C>T (n.910-14C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676454C= | CA1940196515 | BAG3 | c.910-10C= (n.910-10C=) c.736-13C= (n.736-13C=) c.910-13C= (n.910-13C=) | |
10 | g.119676454C>G | CA175303 | BAG3 | c.910-10C>G (n.910-10C>G) c.736-13C>G (n.736-13C>G) c.910-13C>G (n.910-13C>G) | ClinVar dbSNP |
10 | g.119676454C>T | CA596578152 | BAG3 | c.910-10C>T (n.910-10C>T) c.736-13C>T (n.736-13C>T) c.910-13C>T (n.910-13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676455T>C | CA214224668 | BAG3 | c.910-9T>C (n.910-9T>C) c.736-12T>C (n.736-12T>C) c.910-12T>C (n.910-12T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676455T= | CA1940196516 | BAG3 | c.910-9T= (n.910-9T=) c.736-12T= (n.736-12T=) c.910-12T= (n.910-12T=) | |
10 | g.119676460del | CA2611160289 | BAG3 | c.910-4del (n.910-4del) c.736-7del (n.736-7del) c.910-7del (n.910-7del) | gnomAD v4 |
10 | g.119676458T>C | CA2611160290 | BAG3 | c.910-6T>C (n.910-6T>C) c.736-9T>C (n.736-9T>C) c.910-9T>C (n.910-9T>C) | gnomAD v4 |
10 | g.119676459T>A | CA2611160291 | BAG3 | c.910-5T>A (n.910-5T>A) c.736-8T>A (n.736-8T>A) c.910-8T>A (n.910-8T>A) | gnomAD v4 |
10 | g.119676460T>A | CA2573145584 | BAG3 | c.910-4T>A (n.910-4T>A) c.736-7T>A (n.736-7T>A) c.910-7T>A (n.910-7T>A) | ClinVar dbSNP |
10 | g.119676460T>C | CA1940196518 | BAG3 | c.910-4T>C (n.910-4T>C) c.736-7T>C (n.736-7T>C) c.910-7T>C (n.910-7T>C) | dbSNP |
10 | g.119676460T= | CA1940196517 | BAG3 | c.910-4T= (n.910-4T=) c.736-7T= (n.736-7T=) c.910-7T= (n.910-7T=) | |
10 | g.119676461C= | CA1940196519 | BAG3 | c.910-3C= (n.910-3C=) c.736-6C= (n.736-6C=) c.910-6C= (n.910-6C=) | |
10 | g.119676461C>G | CA1940196520 | BAG3 | c.910-3C>G (n.910-3C>G) c.736-6C>G (n.736-6C>G) c.910-6C>G (n.910-6C>G) | dbSNP |
10 | g.119676461_119676470del | CA933144056 | BAG3 | c.910-3_916del c.736-6_739del c.910-6_913del | |
10 | g.119676462A= | CA1940196521 | BAG3 | c.910-2A= (n.910-2A=) c.736-5A= (n.736-5A=) c.910-5A= (n.910-5A=) | |
10 | g.119676462A>C | CA5716449 | BAG3 | c.910-2A>C (n.910-2A>C) c.736-5A>C (n.736-5A>C) c.910-5A>C (n.910-5A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676462A>G | CA378296235 | BAG3 | c.910-2A>G (n.910-2A>G) c.736-5A>G (n.736-5A>G) c.910-5A>G (n.910-5A>G) | |
10 | g.119676462A>T | CA378296236 | BAG3 | c.910-2A>T (n.910-2A>T) c.736-5A>T (n.736-5A>T) c.910-5A>T (n.910-5A>T) | |
10 | g.119676463G>A | CA378296237 | BAG3 | c.910-1G>A (n.910-1G>A) c.736-4G>A (n.736-4G>A) c.910-4G>A (n.910-4G>A) | dbSNP gnomAD v2 |
10 | g.119676463G>C | CA378296238 | BAG3 | c.910-1G>C (n.910-1G>C) c.736-4G>C (n.736-4G>C) c.910-4G>C (n.910-4G>C) | |
10 | g.119676463G= | CA1940196522 | BAG3 | c.910-1G= (n.910-1G=) c.736-4G= (n.736-4G=) c.910-4G= (n.910-4G=) | |
10 | g.119676463G>T | CA378296239 | BAG3 | c.910-1G>T (n.910-1G>T) c.736-4G>T (n.736-4G>T) c.910-4G>T (n.910-4G>T) | |
10 | g.119676464C>A | CA378296242 | BAG3 | c.910C>A (p.Gln304Lys) c.736-3C>A (n.736-3C>A) c.910-3C>A (n.910-3C>A) | |
10 | g.119676464C>G | CA378296240 | BAG3 | c.910C>G (p.Gln304Glu) c.736-3C>G (n.736-3C>G) c.910-3C>G (n.910-3C>G) | |
10 | g.119676464C>T | CA378296241 | BAG3 | c.910C>T (p.Gln304Ter) c.736-3C>T (n.736-3C>T) c.910-3C>T (n.910-3C>T) | ClinVar dbSNP |
10 | g.119676465A>C | CA378296243 | BAG3 | c.911A>C (p.Gln304Pro) c.736-2A>C (n.736-2A>C) c.910-2A>C (n.910-2A>C) | |
10 | g.119676465A>G | CA378296244 | BAG3 | c.911A>G (p.Gln304Arg) c.736-2A>G (n.736-2A>G) c.910-2A>G (n.910-2A>G) | |
10 | g.119676465A>T | CA378296245 | BAG3 | c.911A>T (p.Gln304Leu) c.736-2A>T (n.736-2A>T) c.910-2A>T (n.910-2A>T) | |
10 | g.119676466G>A | CA378296246 | BAG3 | c.912G>A (p.Gln304=) c.736-1G>A (n.736-1G>A) c.910-1G>A (n.910-1G>A) | gnomAD v4 |
10 | g.119676466G>C | CA378296247 | BAG3 | c.912G>C (p.Gln304His) c.736-1G>C (n.736-1G>C) c.910-1G>C (n.910-1G>C) | |
10 | g.119676466G>T | CA378296248 | BAG3 | c.912G>T (p.Gln304His) c.736-1G>T (n.736-1G>T) c.910-1G>T (n.910-1G>T) | |
10 | g.119676467C>A | CA378296249 | BAG3 | c.913C>A (p.Pro305Thr) c.736C>A (p.Pro246Thr) c.910C>A (p.Pro304Thr) | |
10 | g.119676467C>G | CA378296250 | BAG3 | c.913C>G (p.Pro305Ala) c.736C>G (p.Pro246Ala) c.910C>G (p.Pro304Ala) | |
10 | g.119676467C>T | CA378296251 | BAG3 | c.913C>T (p.Pro305Ser) c.736C>T (p.Pro246Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
10 | g.119676469del | CA2573053246 | BAG3 | c.915del (p.Met306Ter) c.738del (p.Met247Ter) c.912del (p.Met305Ter) | dbSNP |
10 | g.119676468C>A | CA378296252 | BAG3 | c.914C>A (p.Pro305His) c.737C>A (p.Pro246His) c.911C>A (p.Pro304His) | |
10 | g.119676468C>G | CA378296253 | BAG3 | c.914C>G (p.Pro305Arg) c.737C>G (p.Pro246Arg) c.911C>G (p.Pro304Arg) | |
10 | g.119676468C>T | CA378296254 | BAG3 | c.914C>T (p.Pro305Leu) c.737C>T (p.Pro246Leu) c.911C>T (p.Pro304Leu) | gnomAD v4 |
10 | g.119676469C>A | CA471634769 | BAG3 | c.915C>A (p.Pro305=) c.738C>A (p.Pro246=) c.912C>A (p.Pro304=) | |
10 | g.119676469C= | CA1940196523 | BAG3 | c.915C= (p.Pro305=) c.738C= (p.Pro246=) c.912C= (p.Pro304=) | |
10 | g.119676469C>G | CA471634770 | BAG3 | c.915C>G (p.Pro305=) c.738C>G (p.Pro246=) c.912C>G (p.Pro304=) | |
10 | g.119676469C>T | CA471634771 | BAG3 | c.915C>T (p.Pro305=) c.738C>T (p.Pro246=) c.912C>T (p.Pro304=) | dbSNP |
10 | g.119676470A= | CA1940196524 | BAG3 | c.916A= (p.Met306=) c.739A= (p.Met247=) c.913A= (p.Met305=) | |
10 | g.119676470A>C | CA378296255 | BAG3 | c.916A>C (p.Met306Leu) c.739A>C (p.Met247Leu) c.913A>C (p.Met305Leu) | |
10 | g.119676470A>G | CA378296257 | BAG3 | c.916A>G (p.Met306Val) c.739A>G (p.Met247Val) c.913A>G (p.Met305Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676470A>T | CA378296256 | BAG3 | c.916A>T (p.Met306Leu) c.739A>T (p.Met247Leu) c.913A>T (p.Met305Leu) | |
10 | g.119676471T>A | CA378296258 | BAG3 | c.917T>A (p.Met306Lys) c.740T>A (p.Met247Lys) c.914T>A (p.Met305Lys) | |
10 | g.119676471T>C | CA5716450 | BAG3 | c.917T>C (p.Met306Thr) c.740T>C (p.Met247Thr) c.914T>C (p.Met305Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676471T>G | CA378296259 | BAG3 | c.917T>G (p.Met306Arg) c.740T>G (p.Met247Arg) c.914T>G (p.Met305Arg) | |
10 | g.119676471T= | CA1940196525 | BAG3 | c.917T= (p.Met306=) c.740T= (p.Met247=) c.914T= (p.Met305=) | |
10 | g.119676471_119676472insTTTTTTTTTT | CA933144057 | BAG3 | c.917_918insTTTTTTTTTT (p.Met306IlefsTer16) c.740_741insTTTTTTTTTT (p.Met247IlefsTer16) c.914_915insTTTTTTTTTT (p.Met305IlefsTer16) | |
10 | g.119676472G>A | CA378296260 | BAG3 | c.918G>A (p.Met306Ile) c.741G>A (p.Met247Ile) c.915G>A (p.Met305Ile) | |
10 | g.119676472G>C | CA378296262 | BAG3 | c.918G>C (p.Met306Ile) c.741G>C (p.Met247Ile) c.915G>C (p.Met305Ile) | |
10 | g.119676472G>T | CA378296261 | BAG3 | c.918G>T (p.Met306Ile) c.741G>T (p.Met247Ile) c.915G>T (p.Met305Ile) | gnomAD v4 |
10 | g.119676473A>C | CA378296263 | BAG3 | c.919A>C (p.Thr307Pro) c.742A>C (p.Thr248Pro) c.916A>C (p.Thr306Pro) | gnomAD v4 |
10 | g.119676473A>G | CA378296264 | BAG3 | c.919A>G (p.Thr307Ala) c.742A>G (p.Thr248Ala) c.916A>G (p.Thr306Ala) | |
10 | g.119676473A>T | CA378296265 | BAG3 | c.919A>T (p.Thr307Ser) c.742A>T (p.Thr248Ser) c.916A>T (p.Thr306Ser) | |
10 | g.119676474C>A | CA378296266 | BAG3 | c.920C>A (p.Thr307Asn) c.743C>A (p.Thr248Asn) c.917C>A (p.Thr306Asn) | |
10 | g.119676474C>G | CA378296267 | BAG3 | c.920C>G (p.Thr307Ser) c.743C>G (p.Thr248Ser) c.917C>G (p.Thr306Ser) | |
10 | g.119676474C>T | CA378296268 | BAG3 | c.920C>T (p.Thr307Ile) c.743C>T (p.Thr248Ile) c.917C>T (p.Thr306Ile) | |
10 | g.119676475_119676476del | CA2739291397 | BAG3 | c.921_922del (p.His308SerfsTer10) c.744_745del (p.His249SerfsTer10) c.918_919del (p.His307SerfsTer10) | |
10 | g.119676475C>A | CA471634772 | BAG3 | c.921C>A (p.Thr307=) c.744C>A (p.Thr248=) c.918C>A (p.Thr306=) | |
10 | g.119676475C= | CA1940196526 | BAG3 | c.921C= (p.Thr307=) c.744C= (p.Thr248=) c.918C= (p.Thr306=) | |
10 | g.119676475C>G | CA471634773 | BAG3 | c.921C>G (p.Thr307=) c.744C>G (p.Thr248=) c.918C>G (p.Thr306=) | ClinVar dbSNP gnomAD v4 |
10 | g.119676475C>T | CA471634774 | BAG3 | c.921C>T (p.Thr307=) c.744C>T (p.Thr248=) c.918C>T (p.Thr306=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676476C>A | CA378296269 | BAG3 | c.922C>A (p.His308Asn) c.745C>A (p.His249Asn) c.919C>A (p.His307Asn) | |
10 | g.119676476C>G | CA378296270 | BAG3 | c.922C>G (p.His308Asp) c.745C>G (p.His249Asp) c.919C>G (p.His307Asp) | |
10 | g.119676476C>T | CA378296271 | BAG3 | c.922C>T (p.His308Tyr) c.745C>T (p.His249Tyr) c.919C>T (p.His307Tyr) | gnomAD v4 |
10 | g.119676477_119676479dup | CA1940196527 | BAG3 | c.923_925dup (p.His308_Arg309insHis) c.746_748dup (p.His249_Arg250insHis) c.920_922dup (p.His307_Arg308insHis) | dbSNP |
10 | g.119676477A= | CA1940196528 | BAG3 | c.923A= (p.His308=) c.746A= (p.His249=) c.920A= (p.His307=) | |
10 | g.119676477A>C | CA378296272 | BAG3 | c.923A>C (p.His308Pro) c.746A>C (p.His249Pro) c.920A>C (p.His307Pro) | |
10 | g.119676477A>G | CA378296273 | BAG3 | c.923A>G (p.His308Arg) c.746A>G (p.His249Arg) c.920A>G (p.His307Arg) | dbSNP |
10 | g.119676477A>T | CA378296274 | BAG3 | c.923A>T (p.His308Leu) c.746A>T (p.His249Leu) c.920A>T (p.His307Leu) | |
10 | g.119676478T>A | CA378296275 | BAG3 | c.924T>A (p.His308Gln) c.747T>A (p.His249Gln) c.921T>A (p.His307Gln) | gnomAD v4 |
10 | g.119676478T>C | CA471634775 | BAG3 | c.924T>C (p.His308=) c.747T>C (p.His249=) c.921T>C (p.His307=) | gnomAD v4 |
10 | g.119676478T>G | CA378296276 | BAG3 | c.924T>G (p.His308Gln) c.747T>G (p.His249Gln) c.921T>G (p.His307Gln) | |
10 | g.119676479C>A | CA471634776 | BAG3 | c.925C>A (p.Arg309=) c.748C>A (p.Arg250=) c.922C>A (p.Arg308=) | dbSNP gnomAD v4 |
10 | g.119676479C= | CA1940196529 | BAG3 | c.925C= (p.Arg309=) c.748C= (p.Arg250=) c.922C= (p.Arg308=) | |
10 | g.119676479C>G | CA378296277 | BAG3 | c.925C>G (p.Arg309Gly) c.748C>G (p.Arg250Gly) c.922C>G (p.Arg308Gly) | ClinVar dbSNP |
10 | g.119676479C>T | CA10576779 | BAG3 | c.925C>T (p.Arg309Ter) c.748C>T (p.Arg250Ter) c.922C>T (p.Arg308Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.119676480G>A | CA5716451 | BAG3 | c.926G>A (p.Arg309Gln) c.749G>A (p.Arg250Gln) c.923G>A (p.Arg308Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119676480G>C | CA378296278 | BAG3 | c.926G>C (p.Arg309Pro) c.749G>C (p.Arg250Pro) c.923G>C (p.Arg308Pro) | |
10 | g.119676480G= | CA1940196530 | BAG3 | c.926G= (p.Arg309=) c.749G= (p.Arg250=) c.923G= (p.Arg308=) | |
10 | g.119676480G>T | CA378296279 | BAG3 | c.926G>T (p.Arg309Leu) c.749G>T (p.Arg250Leu) c.923G>T (p.Arg308Leu) | |
10 | g.119676481A>C | CA471634777 | BAG3 | c.927A>C (p.Arg309=) c.750A>C (p.Arg250=) c.924A>C (p.Arg308=) | |
10 | g.119676481A>G | CA471634778 | BAG3 | c.927A>G (p.Arg309=) c.750A>G (p.Arg250=) c.924A>G (p.Arg308=) | |
10 | g.119676481A>T | CA471634779 | BAG3 | c.927A>T (p.Arg309=) c.750A>T (p.Arg250=) c.924A>T (p.Arg308=) | |
10 | g.119676482G>A | CA378296280 | BAG3 | c.928G>A (p.Glu310Lys) c.751G>A (p.Glu251Lys) c.925G>A (p.Glu309Lys) | |
10 | g.119676482G>C | CA378296281 | BAG3 | c.928G>C (p.Glu310Gln) c.751G>C (p.Glu251Gln) c.925G>C (p.Glu309Gln) | |
10 | g.119676482G>T | CA378296282 | BAG3 | c.928G>T (p.Glu310Ter) c.751G>T (p.Glu251Ter) c.925G>T (p.Glu309Ter) | |
10 | g.119676483A>C | CA378296283 | BAG3 | c.929A>C (p.Glu310Ala) c.752A>C (p.Glu251Ala) c.926A>C (p.Glu309Ala) | |
10 | g.119676483A>G | CA378296284 | BAG3 | c.929A>G (p.Glu310Gly) c.752A>G (p.Glu251Gly) c.926A>G (p.Glu309Gly) | |
10 | g.119676483A>T | CA378296285 | BAG3 | c.929A>T (p.Glu310Val) c.752A>T (p.Glu251Val) c.926A>T (p.Glu309Val) | |
10 | g.119676484A>C | CA378296286 | BAG3 | c.930A>C (p.Glu310Asp) c.753A>C (p.Glu251Asp) c.927A>C (p.Glu309Asp) | |
10 | g.119676484A>G | CA471634780 | BAG3 | c.930A>G (p.Glu310=) c.753A>G (p.Glu251=) c.927A>G (p.Glu309=) | |
10 | g.119676484A>T | CA378296287 | BAG3 | c.930A>T (p.Glu310Asp) c.753A>T (p.Glu251Asp) c.927A>T (p.Glu309Asp) | |
10 | g.119676485A>C | CA378296288 | BAG3 | c.931A>C (p.Thr311Pro) c.754A>C (p.Thr252Pro) c.928A>C (p.Thr310Pro) | |
10 | g.119676485A>G | CA378296289 | BAG3 | c.931A>G (p.Thr311Ala) c.754A>G (p.Thr252Ala) c.928A>G (p.Thr310Ala) | |
10 | g.119676485A>T | CA378296290 | BAG3 | c.931A>T (p.Thr311Ser) c.754A>T (p.Thr252Ser) c.928A>T (p.Thr310Ser) | |
10 | g.119676486C>A | CA378296291 | BAG3 | c.932C>A (p.Thr311Asn) c.755C>A (p.Thr252Asn) c.929C>A (p.Thr310Asn) | |
10 | g.119676486C>G | CA378296292 | BAG3 | c.932C>G (p.Thr311Ser) c.755C>G (p.Thr252Ser) c.929C>G (p.Thr310Ser) | |
10 | g.119676486C>T | CA378296293 | BAG3 | c.932C>T (p.Thr311Ile) c.755C>T (p.Thr252Ile) c.929C>T (p.Thr310Ile) | |
10 | g.119676487T>A | CA471634781 | BAG3 | c.933T>A (p.Thr311=) c.756T>A (p.Thr252=) c.930T>A (p.Thr310=) | |
10 | g.119676487T>C | CA471634782 | BAG3 | c.933T>C (p.Thr311=) c.756T>C (p.Thr252=) c.930T>C (p.Thr310=) | |
10 | g.119676487T>G | CA471634783 | BAG3 | c.933T>G (p.Thr311=) c.756T>G (p.Thr252=) c.930T>G (p.Thr310=) | |
10 | g.119676488G>A | CA378296294 | BAG3 | c.934G>A (p.Ala312Thr) c.757G>A (p.Ala253Thr) c.931G>A (p.Ala311Thr) | |
10 | g.119676488G>C | CA378296295 | BAG3 | c.934G>C (p.Ala312Pro) c.757G>C (p.Ala253Pro) c.931G>C (p.Ala311Pro) | |
10 | g.119676488G>T | CA378296296 | BAG3 | c.934G>T (p.Ala312Ser) c.757G>T (p.Ala253Ser) c.931G>T (p.Ala311Ser) | |
10 | g.119676489C>A | CA378296297 | BAG3 | c.935C>A (p.Ala312Glu) c.758C>A (p.Ala253Glu) c.932C>A (p.Ala311Glu) | |
10 | g.119676489C= | CA1940196531 | BAG3 | c.935C= (p.Ala312=) c.758C= (p.Ala253=) c.932C= (p.Ala311=) | |
10 | g.119676489C>G | CA378296298 | BAG3 | c.935C>G (p.Ala312Gly) c.758C>G (p.Ala253Gly) c.932C>G (p.Ala311Gly) | |
10 | g.119676489C>T | CA378296299 | BAG3 | c.935C>T (p.Ala312Val) c.758C>T (p.Ala253Val) c.932C>T (p.Ala311Val) | dbSNP gnomAD v4 |
10 | g.119676490A>C | CA471634784 | BAG3 | c.936A>C (p.Ala312=) c.759A>C (p.Ala253=) c.933A>C (p.Ala311=) | |
10 | g.119676490A>G | CA471634785 | BAG3 | c.936A>G (p.Ala312=) c.759A>G (p.Ala253=) c.933A>G (p.Ala311=) | |
10 | g.119676490A>T | CA471634786 | BAG3 | c.936A>T (p.Ala312=) c.759A>T (p.Ala253=) c.933A>T (p.Ala311=) | |
10 | g.119676491C>A | CA378296302 | BAG3 | c.937C>A (p.Pro313Thr) c.760C>A (p.Pro254Thr) c.934C>A (p.Pro312Thr) | |
10 | g.119676491C>G | CA378296300 | BAG3 | c.937C>G (p.Pro313Ala) c.760C>G (p.Pro254Ala) c.934C>G (p.Pro312Ala) | |
10 | g.119676491C>T | CA378296301 | BAG3 | c.937C>T (p.Pro313Ser) c.760C>T (p.Pro254Ser) c.934C>T (p.Pro312Ser) | |
10 | g.119676492C>A | CA378296303 | BAG3 | c.938C>A (p.Pro313His) c.761C>A (p.Pro254His) c.935C>A (p.Pro312His) | |
10 | g.119676492C= | CA1940196532 | BAG3 | c.938C= (p.Pro313=) c.761C= (p.Pro254=) c.935C= (p.Pro312=) | |
10 | g.119676492C>G | CA378296304 | BAG3 | c.938C>G (p.Pro313Arg) c.761C>G (p.Pro254Arg) c.935C>G (p.Pro312Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676492C>T | CA378296305 | BAG3 | c.938C>T (p.Pro313Leu) c.761C>T (p.Pro254Leu) c.935C>T (p.Pro312Leu) | gnomAD v4 |
10 | g.119676493T>A | CA471634789 | BAG3 | c.939T>A (p.Pro313=) c.762T>A (p.Pro254=) c.936T>A (p.Pro312=) | |
10 | g.119676493T>C | CA471634788 | BAG3 | c.939T>C (p.Pro313=) c.762T>C (p.Pro254=) c.936T>C (p.Pro312=) | |
10 | g.119676493T>G | CA471634787 | BAG3 | c.939T>G (p.Pro313=) c.762T>G (p.Pro254=) c.936T>G (p.Pro312=) | |
10 | g.119676494G>A | CA378296306 | BAG3 | c.940G>A (p.Val314Ile) c.763G>A (p.Val255Ile) c.937G>A (p.Val313Ile) | |
10 | g.119676494G>C | CA378296307 | BAG3 | c.940G>C (p.Val314Leu) c.763G>C (p.Val255Leu) c.937G>C (p.Val313Leu) | |
10 | g.119676494G>T | CA378296308 | BAG3 | c.940G>T (p.Val314Phe) c.763G>T (p.Val255Phe) c.937G>T (p.Val313Phe) | |
10 | g.119676495T>A | CA378296309 | BAG3 | c.941T>A (p.Val314Asp) c.764T>A (p.Val255Asp) c.938T>A (p.Val313Asp) | |
10 | g.119676495T>C | CA378296310 | BAG3 | c.941T>C (p.Val314Ala) c.764T>C (p.Val255Ala) c.938T>C (p.Val313Ala) | gnomAD v4 |
10 | g.119676495T>G | CA378296311 | BAG3 | c.941T>G (p.Val314Gly) c.764T>G (p.Val255Gly) c.938T>G (p.Val313Gly) | |
10 | g.119676496T>A | CA471634792 | BAG3 | c.942T>A (p.Val314=) c.765T>A (p.Val255=) c.939T>A (p.Val313=) | |
10 | g.119676496T>C | CA471634791 | BAG3 | c.942T>C (p.Val314=) c.765T>C (p.Val255=) c.939T>C (p.Val313=) | |
10 | g.119676496T>G | CA471634790 | BAG3 | c.942T>G (p.Val314=) c.765T>G (p.Val255=) c.939T>G (p.Val313=) | |
10 | g.119676497T>A | CA5716452 | BAG3 | c.943T>A (p.Ser315Thr) c.766T>A (p.Ser256Thr) c.940T>A (p.Ser314Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676497T>C | CA378296312 | BAG3 | c.943T>C (p.Ser315Pro) c.766T>C (p.Ser256Pro) c.940T>C (p.Ser314Pro) | dbSNP |
10 | g.119676497T>G | CA378296313 | BAG3 | c.943T>G (p.Ser315Ala) c.766T>G (p.Ser256Ala) c.940T>G (p.Ser314Ala) | |
10 | g.119676497T= | CA1940196533 | BAG3 | c.943T= (p.Ser315=) c.766T= (p.Ser256=) c.940T= (p.Ser314=) | |
10 | g.119676498C>A | CA378296314 | BAG3 | c.944C>A (p.Ser315Tyr) c.767C>A (p.Ser256Tyr) c.941C>A (p.Ser314Tyr) | |
10 | g.119676498C= | CA1940196534 | BAG3 | c.944C= (p.Ser315=) c.767C= (p.Ser256=) c.941C= (p.Ser314=) | |
10 | g.119676498C>G | CA378296315 | BAG3 | c.944C>G (p.Ser315Cys) c.767C>G (p.Ser256Cys) c.941C>G (p.Ser314Cys) | gnomAD v4 |
10 | g.119676498C>T | CA16612746 | BAG3 | c.944C>T (p.Ser315Phe) c.767C>T (p.Ser256Phe) c.941C>T (p.Ser314Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676499C>A | CA471634793 | BAG3 | c.945C>A (p.Ser315=) c.768C>A (p.Ser256=) c.942C>A (p.Ser314=) | |
10 | g.119676499C= | CA1940196535 | BAG3 | c.945C= (p.Ser315=) c.768C= (p.Ser256=) c.942C= (p.Ser314=) | |
10 | g.119676499C>G | CA471634795 | BAG3 | c.945C>G (p.Ser315=) c.768C>G (p.Ser256=) c.942C>G (p.Ser314=) | dbSNP |
10 | g.119676499C>T | CA471634794 | BAG3 | c.945C>T (p.Ser315=) c.768C>T (p.Ser256=) c.942C>T (p.Ser314=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676500C>A | CA378296316 | BAG3 | c.946C>A (p.Gln316Lys) c.769C>A (p.Gln257Lys) c.943C>A (p.Gln315Lys) | |
10 | g.119676500C= | CA1940196536 | BAG3 | c.946C= (p.Gln316=) c.769C= (p.Gln257=) c.943C= (p.Gln315=) | |
10 | g.119676500C>G | CA378296317 | BAG3 | c.946C>G (p.Gln316Glu) c.769C>G (p.Gln257Glu) c.943C>G (p.Gln315Glu) | |
10 | g.119676500C>T | CA378296318 | BAG3 | c.946C>T (p.Gln316Ter) c.769C>T (p.Gln257Ter) c.943C>T (p.Gln315Ter) | ClinVar dbSNP |
10 | g.119676501A= | CA1940196537 | BAG3 | c.947A= (p.Gln316=) c.770A= (p.Gln257=) c.944A= (p.Gln315=) | |
10 | g.119676501A>C | CA378296319 | BAG3 | c.947A>C (p.Gln316Pro) c.770A>C (p.Gln257Pro) c.944A>C (p.Gln315Pro) | |
10 | g.119676501A>G | CA378296320 | BAG3 | c.947A>G (p.Gln316Arg) c.770A>G (p.Gln257Arg) c.944A>G (p.Gln315Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676501A>T | CA378296321 | BAG3 | c.947A>T (p.Gln316Leu) c.770A>T (p.Gln257Leu) c.944A>T (p.Gln315Leu) | |
10 | g.119676502G>A | CA471634796 | BAG3 | c.948G>A (p.Gln316=) c.771G>A (p.Gln257=) c.945G>A (p.Gln315=) | |
10 | g.119676502G>C | CA378296323 | BAG3 | c.948G>C (p.Gln316His) c.771G>C (p.Gln257His) c.945G>C (p.Gln315His) | |
10 | g.119676502G>T | CA378296322 | BAG3 | c.948G>T (p.Gln316His) c.771G>T (p.Gln257His) c.945G>T (p.Gln315His) | ClinVar |
10 | g.119676503C>A | CA378296324 | BAG3 | c.949C>A (p.Pro317Thr) c.772C>A (p.Pro258Thr) c.946C>A (p.Pro316Thr) | |
10 | g.119676503C>G | CA378296325 | BAG3 | c.949C>G (p.Pro317Ala) c.772C>G (p.Pro258Ala) c.946C>G (p.Pro316Ala) | |
10 | g.119676503C>T | CA378296326 | BAG3 | c.949C>T (p.Pro317Ser) c.772C>T (p.Pro258Ser) c.946C>T (p.Pro316Ser) | ClinVar dbSNP |
10 | g.119676504C>A | CA378296327 | BAG3 | c.950C>A (p.Pro317His) c.773C>A (p.Pro258His) c.947C>A (p.Pro316His) | |
10 | g.119676504C>G | CA378296328 | BAG3 | c.950C>G (p.Pro317Arg) c.773C>G (p.Pro258Arg) c.947C>G (p.Pro316Arg) | |
10 | g.119676504C>T | CA378296329 | BAG3 | c.950C>T (p.Pro317Leu) c.773C>T (p.Pro258Leu) c.947C>T (p.Pro316Leu) | |
10 | g.119676505T>A | CA471634797 | BAG3 | c.951T>A (p.Pro317=) c.774T>A (p.Pro258=) c.948T>A (p.Pro316=) | |
10 | g.119676505T>C | CA471634798 | BAG3 | c.951T>C (p.Pro317=) c.774T>C (p.Pro258=) c.948T>C (p.Pro316=) | |
10 | g.119676505T>G | CA471634799 | BAG3 | c.951T>G (p.Pro317=) c.774T>G (p.Pro258=) c.948T>G (p.Pro316=) | gnomAD v4 |
10 | g.119676506G>A | CA378296332 | BAG3 | c.952G>A (p.Glu318Lys) c.775G>A (p.Glu259Lys) c.949G>A (p.Glu317Lys) | |
10 | g.119676506G>C | CA378296330 | BAG3 | c.952G>C (p.Glu318Gln) c.775G>C (p.Glu259Gln) c.949G>C (p.Glu317Gln) | ClinVar dbSNP gnomAD v4 |
10 | g.119676506G= | CA1940196538 | BAG3 | c.952G= (p.Glu318=) c.775G= (p.Glu259=) c.949G= (p.Glu317=) | |
10 | g.119676506G>T | CA378296331 | BAG3 | c.952G>T (p.Glu318Ter) c.775G>T (p.Glu259Ter) c.949G>T (p.Glu317Ter) | |
10 | g.119676507A>C | CA378296333 | BAG3 | c.953A>C (p.Glu318Ala) c.776A>C (p.Glu259Ala) c.950A>C (p.Glu317Ala) | |
10 | g.119676507A>G | CA378296334 | BAG3 | c.953A>G (p.Glu318Gly) c.776A>G (p.Glu259Gly) c.950A>G (p.Glu317Gly) | |
10 | g.119676507A>T | CA378296335 | BAG3 | c.953A>T (p.Glu318Val) c.776A>T (p.Glu259Val) c.950A>T (p.Glu317Val) | |
10 | g.119676508A>C | CA378296336 | BAG3 | c.954A>C (p.Glu318Asp) c.777A>C (p.Glu259Asp) c.951A>C (p.Glu317Asp) | |
10 | g.119676508A>G | CA471634800 | BAG3 | c.954A>G (p.Glu318=) c.777A>G (p.Glu259=) c.951A>G (p.Glu317=) | |
10 | g.119676508A>T | CA378296337 | BAG3 | c.954A>T (p.Glu318Asp) c.777A>T (p.Glu259Asp) c.951A>T (p.Glu317Asp) | |
10 | g.119676509A>C | CA378296338 | BAG3 | c.955A>C (p.Asn319His) c.778A>C (p.Asn260His) c.952A>C (p.Asn318His) | |
10 | g.119676509A>G | CA378296339 | BAG3 | c.955A>G (p.Asn319Asp) c.778A>G (p.Asn260Asp) c.952A>G (p.Asn318Asp) | gnomAD v4 |
10 | g.119676509A>T | CA378296340 | BAG3 | c.955A>T (p.Asn319Tyr) c.778A>T (p.Asn260Tyr) c.952A>T (p.Asn318Tyr) | |
10 | g.119676510A>C | CA378296341 | BAG3 | c.956A>C (p.Asn319Thr) c.779A>C (p.Asn260Thr) c.953A>C (p.Asn318Thr) | |
10 | g.119676510A>G | CA378296342 | BAG3 | c.956A>G (p.Asn319Ser) c.779A>G (p.Asn260Ser) c.953A>G (p.Asn318Ser) | gnomAD v4 |
10 | g.119676510A>T | CA378296343 | BAG3 | c.956A>T (p.Asn319Ile) c.779A>T (p.Asn260Ile) c.953A>T (p.Asn318Ile) | |
10 | g.119676511C>A | CA378296344 | BAG3 | c.957C>A (p.Asn319Lys) c.780C>A (p.Asn260Lys) c.954C>A (p.Asn318Lys) | |
10 | g.119676511C= | CA1940196539 | BAG3 | c.957C= (p.Asn319=) c.780C= (p.Asn260=) c.954C= (p.Asn318=) | |
10 | g.119676511C>G | CA5716453 | BAG3 | c.957C>G (p.Asn319Lys) c.780C>G (p.Asn260Lys) c.954C>G (p.Asn318Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676511C>T | CA471634801 | BAG3 | c.957C>T (p.Asn319=) c.780C>T (p.Asn260=) c.954C>T (p.Asn318=) | ClinVar |
10 | g.119676512A>C | CA378296345 | BAG3 | c.958A>C (p.Lys320Gln) c.781A>C (p.Lys261Gln) c.955A>C (p.Lys319Gln) | |
10 | g.119676512A>G | CA378296347 | BAG3 | c.958A>G (p.Lys320Glu) c.781A>G (p.Lys261Glu) c.955A>G (p.Lys319Glu) | |
10 | g.119676512A>T | CA378296346 | BAG3 | c.958A>T (p.Lys320Ter) c.781A>T (p.Lys261Ter) c.955A>T (p.Lys319Ter) | |
10 | g.119676513A>C | CA378296348 | BAG3 | c.959A>C (p.Lys320Thr) c.782A>C (p.Lys261Thr) c.956A>C (p.Lys319Thr) | |
10 | g.119676513A>G | CA378296349 | BAG3 | c.959A>G (p.Lys320Arg) c.782A>G (p.Lys261Arg) c.956A>G (p.Lys319Arg) | |
10 | g.119676513A>T | CA378296350 | BAG3 | c.959A>T (p.Lys320Ile) c.782A>T (p.Lys261Ile) c.956A>T (p.Lys319Ile) | |
10 | g.119676514A= | CA1940196540 | BAG3 | c.960A= (p.Lys320=) c.783A= (p.Lys261=) c.957A= (p.Lys319=) | |
10 | g.119676514A>C | CA378296351 | BAG3 | c.960A>C (p.Lys320Asn) c.783A>C (p.Lys261Asn) c.957A>C (p.Lys319Asn) | |
10 | g.119676514A>G | CA471634802 | BAG3 | c.960A>G (p.Lys320=) c.783A>G (p.Lys261=) c.957A>G (p.Lys319=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676514A>T | CA378296352 | BAG3 | c.960A>T (p.Lys320Asn) c.783A>T (p.Lys261Asn) c.957A>T (p.Lys319Asn) | |
10 | g.119676515C>A | CA378296354 | BAG3 | c.961C>A (p.Pro321Thr) c.784C>A (p.Pro262Thr) c.958C>A (p.Pro320Thr) | |
10 | g.119676515C= | CA1940196541 | BAG3 | c.961C= (p.Pro321=) c.784C= (p.Pro262=) c.958C= (p.Pro320=) | |
10 | g.119676515C>G | CA378296353 | BAG3 | c.961C>G (p.Pro321Ala) c.784C>G (p.Pro262Ala) c.958C>G (p.Pro320Ala) | |
10 | g.119676515C>T | CA308236 | BAG3 | c.961C>T (p.Pro321Ser) c.784C>T (p.Pro262Ser) c.958C>T (p.Pro320Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676516del | CA2611160292 | BAG3 | c.962del (p.Pro321GlnfsTer21) c.785del (p.Pro262GlnfsTer21) c.959del (p.Pro320GlnfsTer21) | gnomAD v4 |
10 | g.119676516C>A | CA378296355 | BAG3 | c.962C>A (p.Pro321Gln) c.785C>A (p.Pro262Gln) c.959C>A (p.Pro320Gln) | |
10 | g.119676516C= | CA1940196542 | BAG3 | c.962C= (p.Pro321=) c.785C= (p.Pro262=) c.959C= (p.Pro320=) | |
10 | g.119676516C>G | CA378296356 | BAG3 | c.962C>G (p.Pro321Arg) c.785C>G (p.Pro262Arg) c.959C>G (p.Pro320Arg) | |
10 | g.119676516C>T | CA378296357 | BAG3 | c.962C>T (p.Pro321Leu) c.785C>T (p.Pro262Leu) c.959C>T (p.Pro320Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676517A>C | CA471634803 | BAG3 | c.963A>C (p.Pro321=) c.786A>C (p.Pro262=) c.960A>C (p.Pro320=) | |
10 | g.119676517A>G | CA471634804 | BAG3 | c.963A>G (p.Pro321=) c.786A>G (p.Pro262=) c.960A>G (p.Pro320=) | |
10 | g.119676517A>T | CA471634805 | BAG3 | c.963A>T (p.Pro321=) c.786A>T (p.Pro262=) c.960A>T (p.Pro320=) | |
10 | g.119676518G>A | CA378296358 | BAG3 | c.964G>A (p.Glu322Lys) c.787G>A (p.Glu263Lys) c.961G>A (p.Glu321Lys) | |
10 | g.119676518G>C | CA378296359 | BAG3 | c.964G>C (p.Glu322Gln) c.787G>C (p.Glu263Gln) c.961G>C (p.Glu321Gln) | |
10 | g.119676518G= | CA1940196543 | BAG3 | c.964G= (p.Glu322=) c.787G= (p.Glu263=) c.961G= (p.Glu321=) | |
10 | g.119676518G>T | CA378296360 | BAG3 | c.964G>T (p.Glu322Ter) c.787G>T (p.Glu263Ter) c.961G>T (p.Glu321Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119676519A= | CA1940196544 | BAG3 | c.965A= (p.Glu322=) c.788A= (p.Glu263=) c.962A= (p.Glu321=) | |
10 | g.119676519A>C | CA378296361 | BAG3 | c.965A>C (p.Glu322Ala) c.788A>C (p.Glu263Ala) c.962A>C (p.Glu321Ala) | |
10 | g.119676519A>G | CA5716454 | BAG3 | c.965A>G (p.Glu322Gly) c.788A>G (p.Glu263Gly) c.962A>G (p.Glu321Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676519A>T | CA378296362 | BAG3 | c.965A>T (p.Glu322Val) c.788A>T (p.Glu263Val) c.962A>T (p.Glu321Val) | |
10 | g.119676519_119676523delinsAAAGT | CA1940196545 | BAG3 | c.965_969delinsAAAGT (p.Glu322=) c.788_792delinsAAAGT (p.Glu263=) c.962_966delinsAAAGT (p.Glu321=) | |
10 | g.119676519_119676520insCACACCCAACAC | CA2789707783 | BAG3 | c.965_966insCACACCCAACAC (p.Glu322delinsAspThrProAsnThr) c.788_789insCACACCCAACAC (p.Glu263delinsAspThrProAsnThr) c.962_963insCACACCCAACAC (p.Glu321delinsAspThrProAsnThr) | |
10 | g.119676520A>C | CA378296363 | BAG3 | c.966A>C (p.Glu322Asp) c.789A>C (p.Glu263Asp) c.963A>C (p.Glu321Asp) | |
10 | g.119676520A>G | CA471634806 | BAG3 | c.966A>G (p.Glu322=) c.789A>G (p.Glu263=) c.963A>G (p.Glu321=) | |
10 | g.119676520A>T | CA378296364 | BAG3 | c.966A>T (p.Glu322Asp) c.789A>T (p.Glu263Asp) c.963A>T (p.Glu321Asp) | |
10 | g.119676523_119676526del | CA915948734 | BAG3 | c.969_972del (p.Lys324GlnfsTer17) c.792_795del (p.Lys265GlnfsTer17) c.966_969del (p.Lys323GlnfsTer17) | ClinVar dbSNP |
10 | g.119676521A= | CA1940196546 | BAG3 | c.967A= (p.Ser323=) c.790A= (p.Ser264=) c.964A= (p.Ser322=) | |
10 | g.119676521A>C | CA378296365 | BAG3 | c.967A>C (p.Ser323Arg) c.790A>C (p.Ser264Arg) c.964A>C (p.Ser322Arg) | |
10 | g.119676521A>G | CA5716455 | BAG3 | c.967A>G (p.Ser323Gly) c.790A>G (p.Ser264Gly) c.964A>G (p.Ser322Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676521A>T | CA378296366 | BAG3 | c.967A>T (p.Ser323Cys) c.790A>T (p.Ser264Cys) c.964A>T (p.Ser322Cys) | |
10 | g.119676522G>A | CA5716456 | BAG3 | c.968G>A (p.Ser323Asn) c.791G>A (p.Ser264Asn) c.965G>A (p.Ser322Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676522G>C | CA378296367 | BAG3 | c.968G>C (p.Ser323Thr) c.791G>C (p.Ser264Thr) c.965G>C (p.Ser322Thr) | gnomAD v4 |
10 | g.119676522G= | CA1940196547 | BAG3 | c.968G= (p.Ser323=) c.791G= (p.Ser264=) c.965G= (p.Ser322=) | |
10 | g.119676522G>T | CA378296368 | BAG3 | c.968G>T (p.Ser323Ile) c.791G>T (p.Ser264Ile) c.965G>T (p.Ser322Ile) | |
10 | g.119676523T>A | CA378296369 | BAG3 | c.969T>A (p.Ser323Arg) c.792T>A (p.Ser264Arg) c.966T>A (p.Ser322Arg) | |
10 | g.119676523T>C | CA471634807 | BAG3 | c.969T>C (p.Ser323=) c.792T>C (p.Ser264=) c.966T>C (p.Ser322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119676523T>G | CA378296370 | BAG3 | c.969T>G (p.Ser323Arg) c.792T>G (p.Ser264Arg) c.966T>G (p.Ser322Arg) | |
10 | g.119676523T= | CA1940196548 | BAG3 | c.969T= (p.Ser323=) c.792T= (p.Ser264=) c.966T= (p.Ser322=) | |
10 | g.119676524A>C | CA378296371 | BAG3 | c.970A>C (p.Lys324Gln) c.793A>C (p.Lys265Gln) c.967A>C (p.Lys323Gln) | |
10 | g.119676524A>G | CA378296373 | BAG3 | c.970A>G (p.Lys324Glu) c.793A>G (p.Lys265Glu) c.967A>G (p.Lys323Glu) | |
10 | g.119676524A>T | CA378296372 | BAG3 | c.970A>T (p.Lys324Ter) c.793A>T (p.Lys265Ter) c.967A>T (p.Lys323Ter) | |
10 | g.119676525A= | CA1940196549 | BAG3 | c.971A= (p.Lys324=) c.794A= (p.Lys265=) c.968A= (p.Lys323=) | |
10 | g.119676525A>C | CA378296374 | BAG3 | c.971A>C (p.Lys324Thr) c.794A>C (p.Lys265Thr) c.968A>C (p.Lys323Thr) | |
10 | g.119676525A>G | CA378296376 | BAG3 | c.971A>G (p.Lys324Arg) c.794A>G (p.Lys265Arg) c.968A>G (p.Lys323Arg) | |
10 | g.119676525A>T | CA378296375 | BAG3 | c.971A>T (p.Lys324Met) c.794A>T (p.Lys265Met) c.968A>T (p.Lys323Met) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119676526G>A | CA471634808 | BAG3 | c.972G>A (p.Lys324=) c.795G>A (p.Lys265=) c.969G>A (p.Lys323=) | gnomAD v4 |
10 | g.119676526G>C | CA378296377 | BAG3 | c.972G>C (p.Lys324Asn) c.795G>C (p.Lys265Asn) c.969G>C (p.Lys323Asn) | |
10 | g.119676526G>T | CA378296378 | BAG3 | c.972G>T (p.Lys324Asn) c.795G>T (p.Lys265Asn) c.969G>T (p.Lys323Asn) | |
10 | g.119676526_119676527delinsGC | CA1940196550 | BAG3 | c.972_973delinsGC (p.Lys324=) c.795_796delinsGC (p.Lys265=) c.969_970delinsGC (p.Lys323=) | |
10 | g.119676527C>A | CA378296379 | BAG3 | c.973C>A (p.Pro325Thr) c.796C>A (p.Pro266Thr) c.970C>A (p.Pro324Thr) | |
10 | g.119676527C>G | CA378296380 | BAG3 | c.973C>G (p.Pro325Ala) c.796C>G (p.Pro266Ala) c.970C>G (p.Pro324Ala) | ClinVar dbSNP gnomAD v4 |
10 | g.119676527C>T | CA378296381 | BAG3 | c.973C>T (p.Pro325Ser) c.796C>T (p.Pro266Ser) c.970C>T (p.Pro324Ser) | |
10 | g.119676528del | CA916082337 | BAG3 | c.974del (p.Pro325GlnfsTer17) c.797del (p.Pro266GlnfsTer17) c.971del (p.Pro324GlnfsTer17) | ClinVar dbSNP |
10 | g.119676528C>A | CA5716457 | BAG3 | c.974C>A (p.Pro325Gln) c.797C>A (p.Pro266Gln) c.971C>A (p.Pro324Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119676528C= | CA1940196551 | BAG3 | c.974C= (p.Pro325=) c.797C= (p.Pro266=) c.971C= (p.Pro324=) | |
10 | g.119676528C>G | CA378296383 | BAG3 | c.974C>G (p.Pro325Arg) c.797C>G (p.Pro266Arg) c.971C>G (p.Pro324Arg) | |
10 | g.119676528C>T | CA378296382 | BAG3 | c.974C>T (p.Pro325Leu) c.797C>T (p.Pro266Leu) c.971C>T (p.Pro324Leu) | |
10 | g.119676529A= | CA1940196552 | BAG3 | c.975A= (p.Pro325=) c.798A= (p.Pro266=) c.972A= (p.Pro324=) | |
10 | g.119676529A>C | CA471634809 | BAG3 | c.975A>C (p.Pro325=) c.798A>C (p.Pro266=) c.972A>C (p.Pro324=) | |
10 | g.119676529A>G | CA471634810 | BAG3 | c.975A>G (p.Pro325=) c.798A>G (p.Pro266=) c.972A>G (p.Pro324=) | gnomAD v4 |
10 | g.119676529A>T | CA471634811 | BAG3 | c.975A>T (p.Pro325=) c.798A>T (p.Pro266=) c.972A>T (p.Pro324=) | ClinVar dbSNP |
10 | g.119676530G>A | CA378296384 | BAG3 | c.976G>A (p.Gly326Ser) c.799G>A (p.Gly267Ser) c.973G>A (p.Gly325Ser) | |
10 | g.119676530G>C | CA378296385 | BAG3 | c.976G>C (p.Gly326Arg) c.799G>C (p.Gly267Arg) c.973G>C (p.Gly325Arg) | |
10 | g.119676530G>T | CA378296386 | BAG3 | c.976G>T (p.Gly326Cys) c.799G>T (p.Gly267Cys) c.973G>T (p.Gly325Cys) | |
10 | g.119676531G>A | CA378296387 | BAG3 | c.977G>A (p.Gly326Asp) c.800G>A (p.Gly267Asp) c.974G>A (p.Gly325Asp) | gnomAD v4 |
10 | g.119676531G>C | CA378296388 | BAG3 | c.977G>C (p.Gly326Ala) c.800G>C (p.Gly267Ala) c.974G>C (p.Gly325Ala) | |
10 | g.119676531G= | CA1940196553 | BAG3 | c.977G= (p.Gly326=) c.800G= (p.Gly267=) c.974G= (p.Gly325=) | |
10 | g.119676531G>T | CA378296389 | BAG3 | c.977G>T (p.Gly326Val) c.800G>T (p.Gly267Val) c.974G>T (p.Gly325Val) | dbSNP gnomAD v4 |
10 | g.119676532C>A | CA471634812 | BAG3 | c.978C>A (p.Gly326=) c.801C>A (p.Gly267=) c.975C>A (p.Gly325=) | |
10 | g.119676532C>G | CA471634814 | BAG3 | c.978C>G (p.Gly326=) c.801C>G (p.Gly267=) c.975C>G (p.Gly325=) | |
10 | g.119676532C>T | CA471634813 | BAG3 | c.978C>T (p.Gly326=) c.801C>T (p.Gly267=) c.975C>T (p.Gly325=) |