Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38565131_38565172del | CA2584909112 | RYR1 | c.1207_1248del c.1189_1230del c.12797_12838del (p.Gly4266_Ala4279del) c.12782_12823del (p.Gly4261_Ala4274del) c.12779_12820del (p.Gly4260_Ala4273del) c.6166_6207del c.12764_12805del (p.Gly4255_Ala4268del) c.12794_12835del (p.Gly4265_Ala4278del) | gnomAD v4 |
19 | g.38565163_38565164insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG | CA2584909115 | RYR1 | c.1239_1240insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.1221_1222insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12829_12830insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12814_12815insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12811_12812insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.6198_6199insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG c.12796_12797insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) c.12826_12827insCGGGCGCGGAAGGCGCGGAGGCGGGCGCGGAAGGCGCGGAGG (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGluAlaGlyAlaGluGlyAlaGlu) | gnomAD v4 |
19 | g.38565143_38565163dup | CA633066816 | RYR1 | c.1219_1239dup c.1201_1221dup c.12809_12829dup (p.Glu4276_Glu4277insAlaGlyAlaGluGlyAlaGlu) c.12794_12814dup (p.Glu4271_Glu4272insAlaGlyAlaGluGlyAlaGlu) c.12791_12811dup (p.Glu4270_Glu4271insAlaGlyAlaGluGlyAlaGlu) c.6178_6198dup c.12776_12796dup (p.Glu4265_Glu4266insAlaGlyAlaGluGlyAlaGlu) c.12806_12826dup (p.Glu4275_Glu4276insAlaGlyAlaGluGlyAlaGlu) | dbSNP gnomAD v2 |
19 | g.38565143_38565163del | CA633066815 | RYR1 | c.1219_1239del c.1201_1221del c.12809_12829del (p.Ala4270_Glu4276del) c.12794_12814del (p.Ala4265_Glu4271del) c.12791_12811del (p.Ala4264_Glu4270del) c.6178_6198del c.12776_12796del (p.Ala4259_Glu4265del) c.12806_12826del (p.Ala4269_Glu4275del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565137_38565161delinsCGGAGGCGGGCGCGGAAGGCGCGGA | CA2335084667 | RYR1 | c.1213_1237delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.1195_1219delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12803_12827delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4268=) c.12788_12812delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4263=) c.12785_12809delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4262=) c.6172_6196delinsCGGAGGCGGGCGCGGAAGGCGCGGA c.12770_12794delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4257=) c.12800_12824delinsCGGAGGCGGGCGCGGAAGGCGCGGA (p.Ala4267=) | |
19 | g.38565143_38565166del | CA882058415 | RYR1 | c.1219_1242del c.1201_1224del c.12809_12832del (p.Ala4270_Glu4277del) c.12794_12817del (p.Ala4265_Glu4272del) c.12791_12814del (p.Ala4264_Glu4271del) c.6178_6201del c.12776_12799del (p.Ala4259_Glu4266del) c.12806_12829del (p.Ala4269_Glu4276del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565143_38565164delinsCGGGCGCGGAAGGCGCGGAGGA | CA2335084674 | RYR1 | c.1219_1240delinsCGGGCGCGGAAGGCGCGGAGGA c.1201_1222delinsCGGGCGCGGAAGGCGCGGAGGA c.12809_12830delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4270=) c.12794_12815delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4265=) c.12791_12812delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4264=) c.6178_6199delinsCGGGCGCGGAAGGCGCGGAGGA c.12776_12797delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4259=) c.12806_12827delinsCGGGCGCGGAAGGCGCGGAGGA (p.Ala4269=) | |
19 | g.38565152_38565172dup | CA2584909116 | RYR1 | c.1228_1248dup c.1210_1230dup c.12818_12838dup (p.Ala4279_Ala4280insGluGlyAlaGluGluGlyAla) c.12803_12823dup (p.Ala4274_Ala4275insGluGlyAlaGluGluGlyAla) c.12800_12820dup (p.Ala4273_Ala4274insGluGlyAlaGluGluGlyAla) c.6187_6207dup c.12785_12805dup (p.Ala4268_Ala4269insGluGlyAlaGluGluGlyAla) c.12815_12835dup (p.Ala4278_Ala4279insGluGlyAlaGluGluGlyAla) | gnomAD v4 |
19 | g.38565152_38565172del | CA916082459 | RYR1 | c.1228_1248del c.1210_1230del c.12818_12838del (p.Glu4273_Ala4279del) c.12803_12823del (p.Glu4268_Ala4274del) c.12800_12820del (p.Glu4267_Ala4273del) c.6187_6207del c.12785_12805del (p.Glu4262_Ala4268del) c.12815_12835del (p.Glu4272_Ala4278del) | ClinVar dbSNP gnomAD v4 |
19 | g.38565153_38565161dup | CA2576772093 | RYR1 | c.1229_1237dup c.1211_1219dup c.12819_12827dup (p.Glu4276_Glu4277insGlyAlaGlu) c.12804_12812dup (p.Glu4271_Glu4272insGlyAlaGlu) c.12801_12809dup (p.Glu4270_Glu4271insGlyAlaGlu) c.6188_6196dup c.12786_12794dup (p.Glu4265_Glu4266insGlyAlaGlu) c.12816_12824dup (p.Glu4275_Glu4276insGlyAlaGlu) | gnomAD v4 |
19 | g.38565153_38565161del | CA080766 | RYR1 | c.1229_1237del c.1211_1219del c.12819_12827del (p.Gly4274_Glu4276del) c.12804_12812del (p.Gly4269_Glu4271del) c.12801_12809del (p.Gly4268_Glu4270del) c.6188_6196del c.12786_12794del (p.Gly4263_Glu4265del) c.12816_12824del (p.Gly4273_Glu4275del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565153_38565164del | CA2584909118 | RYR1 | c.1229_1240del c.1211_1222del c.12819_12830del (p.Gly4274_Glu4277del) c.12804_12815del (p.Gly4269_Glu4272del) c.12801_12812del (p.Gly4268_Glu4271del) c.6188_6199del c.12786_12797del (p.Gly4263_Glu4266del) c.12816_12827del (p.Gly4273_Glu4276del) | ClinVar gnomAD v4 |
19 | g.38565161_38565172dup | CA2335084682 | RYR1 | c.1237_1248dup c.1219_1230dup c.12827_12838dup (p.Ala4279_Ala4280insGluGluGlyAla) c.12812_12823dup (p.Ala4274_Ala4275insGluGluGlyAla) c.12809_12820dup (p.Ala4273_Ala4274insGluGluGlyAla) c.6196_6207dup c.12794_12805dup (p.Ala4268_Ala4269insGluGluGlyAla) c.12824_12835dup (p.Ala4278_Ala4279insGluGluGlyAla) | ClinVar dbSNP gnomAD v4 |
19 | g.38565161_38565172del | CA2584909120 | RYR1 | c.1237_1248del c.1219_1230del c.12827_12838del (p.Glu4276_Ala4279del) c.12812_12823del (p.Glu4271_Ala4274del) c.12809_12820del (p.Glu4270_Ala4273del) c.6196_6207del c.12794_12805del (p.Glu4265_Ala4268del) c.12824_12835del (p.Glu4275_Ala4278del) | gnomAD v4 |
19 | g.38565161_38565222del | CA2584909119 | RYR1 | c.1237_1298del c.1219_1280del c.12827_12888del (p.Glu4276GlyfsTer?) c.12812_12873del (p.Glu4271GlyfsTer?) c.12809_12870del (p.Glu4270GlyfsTer?) c.6196_6257del c.12794_12855del (p.Glu4265GlyfsTer?) c.12824_12885del (p.Glu4275GlyfsTer?) | gnomAD v4 |
19 | g.38565161A= | CA2335084690 | RYR1 | c.1237A= c.1219A= c.12827A= (p.Glu4276=) c.12812A= (p.Glu4271=) c.12809A= (p.Glu4270=) c.6196A= c.12794A= (p.Glu4265=) c.12824A= (p.Glu4275=) | |
19 | g.38565161A>C | CA405671315 | RYR1 | c.1237A>C c.1219A>C c.12827A>C (p.Glu4276Ala) c.12812A>C (p.Glu4271Ala) c.12809A>C (p.Glu4270Ala) c.6196A>C c.12794A>C (p.Glu4265Ala) c.12824A>C (p.Glu4275Ala) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565161A>G | CA405671334 | RYR1 | c.1237A>G c.1219A>G c.12827A>G (p.Glu4276Gly) c.12812A>G (p.Glu4271Gly) c.12809A>G (p.Glu4270Gly) c.6196A>G c.12794A>G (p.Glu4265Gly) c.12824A>G (p.Glu4275Gly) | |
19 | g.38565161A>T | CA405671337 | RYR1 | c.1237A>T c.1219A>T c.12827A>T (p.Glu4276Val) c.12812A>T (p.Glu4271Val) c.12809A>T (p.Glu4270Val) c.6196A>T c.12794A>T (p.Glu4265Val) c.12824A>T (p.Glu4275Val) | |
19 | g.38565162G>A | CA507355681 | RYR1 | c.1238G>A c.1220G>A c.12828G>A (p.Glu4276=) c.12813G>A (p.Glu4271=) c.12810G>A (p.Glu4270=) c.6197G>A c.12795G>A (p.Glu4265=) c.12825G>A (p.Glu4275=) | gnomAD v4 |
19 | g.38565162G>C | CA405671348 | RYR1 | c.1238G>C c.1220G>C c.12828G>C (p.Glu4276Asp) c.12813G>C (p.Glu4271Asp) c.12810G>C (p.Glu4270Asp) c.6197G>C c.12795G>C (p.Glu4265Asp) c.12825G>C (p.Glu4275Asp) | |
19 | g.38565162G= | CA2335084691 | RYR1 | c.1238G= c.1220G= c.12828G= (p.Glu4276=) c.12813G= (p.Glu4271=) c.12810G= (p.Glu4270=) c.6197G= c.12795G= (p.Glu4265=) c.12825G= (p.Glu4275=) | |
19 | g.38565162G>T | CA405671359 | RYR1 | c.1238G>T c.1220G>T c.12828G>T (p.Glu4276Asp) c.12813G>T (p.Glu4271Asp) c.12810G>T (p.Glu4270Asp) c.6197G>T c.12795G>T (p.Glu4265Asp) c.12825G>T (p.Glu4275Asp) | |
19 | g.38565164_38565175dup | CA2576772094 | RYR1 | c.1240_1251dup c.1222_1233dup c.12830_12841dup (p.Ala4280_Gly4281insGluGlyAlaAla) c.12815_12826dup (p.Ala4275_Gly4276insGluGlyAlaAla) c.12812_12823dup (p.Ala4274_Gly4275insGluGlyAlaAla) c.6199_6210dup c.12797_12808dup (p.Ala4269_Gly4270insGluGlyAlaAla) c.12827_12838dup (p.Ala4279_Gly4280insGluGlyAlaAla) | gnomAD v4 |
19 | g.38565163G>A | CA405671364 | RYR1 | c.1239G>A c.1221G>A c.12829G>A (p.Glu4277Lys) c.12814G>A (p.Glu4272Lys) c.12811G>A (p.Glu4271Lys) c.6198G>A c.12796G>A (p.Glu4266Lys) c.12826G>A (p.Glu4276Lys) | ClinVar |
19 | g.38565163G>C | CA405671365 | RYR1 | c.1239G>C c.1221G>C c.12829G>C (p.Glu4277Gln) c.12814G>C (p.Glu4272Gln) c.12811G>C (p.Glu4271Gln) c.6198G>C c.12796G>C (p.Glu4266Gln) c.12826G>C (p.Glu4276Gln) | |
19 | g.38565163G>T | CA405671366 | RYR1 | c.1239G>T c.1221G>T c.12829G>T (p.Glu4277Ter) c.12814G>T (p.Glu4272Ter) c.12811G>T (p.Glu4271Ter) c.6198G>T c.12796G>T (p.Glu4266Ter) c.12826G>T (p.Glu4276Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.38565169_38565186dup | CA633066818 | RYR1 | c.1245_1262dup c.1227_1244dup c.12835_12852dup (p.Gly4284_Thr4285insAlaAlaGlyLeuGluGly) c.12820_12837dup (p.Gly4279_Thr4280insAlaAlaGlyLeuGluGly) c.12817_12834dup (p.Gly4278_Thr4279insAlaAlaGlyLeuGluGly) c.6204_6221dup c.12802_12819dup (p.Gly4273_Thr4274insAlaAlaGlyLeuGluGly) c.12832_12849dup (p.Gly4283_Thr4284insAlaAlaGlyLeuGluGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565164A= | CA2335084692 | RYR1 | c.1240A= c.1222A= c.12830A= (p.Glu4277=) c.12815A= (p.Glu4272=) c.12812A= (p.Glu4271=) c.6199A= c.12797A= (p.Glu4266=) c.12827A= (p.Glu4276=) | |
19 | g.38565164A>C | CA405671367 | RYR1 | c.1240A>C c.1222A>C c.12830A>C (p.Glu4277Ala) c.12815A>C (p.Glu4272Ala) c.12812A>C (p.Glu4271Ala) c.6199A>C c.12797A>C (p.Glu4266Ala) c.12827A>C (p.Glu4276Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565164A>G | CA405671369 | RYR1 | c.1240A>G c.1222A>G c.12830A>G (p.Glu4277Gly) c.12815A>G (p.Glu4272Gly) c.12812A>G (p.Glu4271Gly) c.6199A>G c.12797A>G (p.Glu4266Gly) c.12827A>G (p.Glu4276Gly) | gnomAD v4 |
19 | g.38565164A>T | CA405671368 | RYR1 | c.1240A>T c.1222A>T c.12830A>T (p.Glu4277Val) c.12815A>T (p.Glu4272Val) c.12812A>T (p.Glu4271Val) c.6199A>T c.12797A>T (p.Glu4266Val) c.12827A>T (p.Glu4276Val) | |
19 | g.38565165G>A | CA507355683 | RYR1 | c.1241G>A c.1223G>A c.12831G>A (p.Glu4277=) c.12816G>A (p.Glu4272=) c.12813G>A (p.Glu4271=) c.6200G>A c.12798G>A (p.Glu4266=) c.12828G>A (p.Glu4276=) | gnomAD v4 |
19 | g.38565165G>C | CA405671371 | RYR1 | c.1241G>C c.1223G>C c.12831G>C (p.Glu4277Asp) c.12816G>C (p.Glu4272Asp) c.12813G>C (p.Glu4271Asp) c.6200G>C c.12798G>C (p.Glu4266Asp) c.12828G>C (p.Glu4276Asp) | |
19 | g.38565165G>T | CA405671373 | RYR1 | c.1241G>T c.1223G>T c.12831G>T (p.Glu4277Asp) c.12816G>T (p.Glu4272Asp) c.12813G>T (p.Glu4271Asp) c.6200G>T c.12798G>T (p.Glu4266Asp) c.12828G>T (p.Glu4276Asp) | gnomAD v4 |
19 | g.38565167del | CA2576772095 | RYR1 | c.1243del c.1225del c.12833del (p.Gly4278AlafsTer?) c.12818del (p.Gly4273AlafsTer?) c.12815del (p.Gly4272AlafsTer?) c.6202del c.12800del (p.Gly4267AlafsTer?) c.12830del (p.Gly4277AlafsTer?) | |
19 | g.38565166_38565177dup | CA2584909121 | RYR1 | c.1242_1253dup c.1224_1235dup c.12832_12843dup (p.Gly4281_Leu4282insGlyAlaAlaGly) c.12817_12828dup (p.Gly4276_Leu4277insGlyAlaAlaGly) c.12814_12825dup (p.Gly4275_Leu4276insGlyAlaAlaGly) c.6201_6212dup c.12799_12810dup (p.Gly4270_Leu4271insGlyAlaAlaGly) c.12829_12840dup (p.Gly4280_Leu4281insGlyAlaAlaGly) | gnomAD v4 |
19 | g.38565166G>A | CA405671374 | RYR1 | c.1242G>A c.1224G>A c.12832G>A (p.Gly4278Ser) c.12817G>A (p.Gly4273Ser) c.12814G>A (p.Gly4272Ser) c.6201G>A c.12799G>A (p.Gly4267Ser) c.12829G>A (p.Gly4277Ser) | dbSNP gnomAD v2 |
19 | g.38565166G>C | CA405671385 | RYR1 | c.1242G>C c.1224G>C c.12832G>C (p.Gly4278Arg) c.12817G>C (p.Gly4273Arg) c.12814G>C (p.Gly4272Arg) c.6201G>C c.12799G>C (p.Gly4267Arg) c.12829G>C (p.Gly4277Arg) | |
19 | g.38565166G= | CA2335084693 | RYR1 | c.1242G= c.1224G= c.12832G= (p.Gly4278=) c.12817G= (p.Gly4273=) c.12814G= (p.Gly4272=) c.6201G= c.12799G= (p.Gly4267=) c.12829G= (p.Gly4277=) | |
19 | g.38565166G>T | CA405671389 | RYR1 | c.1242G>T c.1224G>T c.12832G>T (p.Gly4278Cys) c.12817G>T (p.Gly4273Cys) c.12814G>T (p.Gly4272Cys) c.6201G>T c.12799G>T (p.Gly4267Cys) c.12829G>T (p.Gly4277Cys) | |
19 | g.38565167G>A | CA405671392 | RYR1 | c.1243G>A c.1225G>A c.12833G>A (p.Gly4278Asp) c.12818G>A (p.Gly4273Asp) c.12815G>A (p.Gly4272Asp) c.6202G>A c.12800G>A (p.Gly4267Asp) c.12830G>A (p.Gly4277Asp) | gnomAD v4 |
19 | g.38565167G>C | CA405671395 | RYR1 | c.1243G>C c.1225G>C c.12833G>C (p.Gly4278Ala) c.12818G>C (p.Gly4273Ala) c.12815G>C (p.Gly4272Ala) c.6202G>C c.12800G>C (p.Gly4267Ala) c.12830G>C (p.Gly4277Ala) | |
19 | g.38565167G>T | CA405671399 | RYR1 | c.1243G>T c.1225G>T c.12833G>T (p.Gly4278Val) c.12818G>T (p.Gly4273Val) c.12815G>T (p.Gly4272Val) c.6202G>T c.12800G>T (p.Gly4267Val) c.12830G>T (p.Gly4277Val) | gnomAD v4 |
19 | g.38565168C>A | CA507355688 | RYR1 | c.1244C>A c.1226C>A c.12834C>A (p.Gly4278=) c.12819C>A (p.Gly4273=) c.12816C>A (p.Gly4272=) c.6203C>A c.12801C>A (p.Gly4267=) c.12831C>A (p.Gly4277=) | ClinVar gnomAD v4 |
19 | g.38565168C= | CA2335084694 | RYR1 | c.1244C= c.1226C= c.12834C= (p.Gly4278=) c.12819C= (p.Gly4273=) c.12816C= (p.Gly4272=) c.6203C= c.12801C= (p.Gly4267=) c.12831C= (p.Gly4277=) | |
19 | g.38565168C>G | CA507355691 | RYR1 | c.1244C>G c.1226C>G c.12834C>G (p.Gly4278=) c.12819C>G (p.Gly4273=) c.12816C>G (p.Gly4272=) c.6203C>G c.12801C>G (p.Gly4267=) c.12831C>G (p.Gly4277=) | |
19 | g.38565168C>T | CA507355693 | RYR1 | c.1244C>T c.1226C>T c.12834C>T (p.Gly4278=) c.12819C>T (p.Gly4273=) c.12816C>T (p.Gly4272=) c.6203C>T c.12801C>T (p.Gly4267=) c.12831C>T (p.Gly4277=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565169G>A | CA059483 | RYR1 | c.1245G>A c.1227G>A c.12835G>A (p.Ala4279Thr) c.12820G>A (p.Ala4274Thr) c.12817G>A (p.Ala4273Thr) c.6204G>A c.12802G>A (p.Ala4268Thr) c.12832G>A (p.Ala4278Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565169G>C | CA405672200 | RYR1 | c.1245G>C c.1227G>C c.12835G>C (p.Ala4279Pro) c.12820G>C (p.Ala4274Pro) c.12817G>C (p.Ala4273Pro) c.6204G>C c.12802G>C (p.Ala4268Pro) c.12832G>C (p.Ala4278Pro) | |
19 | g.38565169G= | CA2335084695 | RYR1 | c.1245G= c.1227G= c.12835G= (p.Ala4279=) c.12820G= (p.Ala4274=) c.12817G= (p.Ala4273=) c.6204G= c.12802G= (p.Ala4268=) c.12832G= (p.Ala4278=) | |
19 | g.38565169G>T | CA405672211 | RYR1 | c.1245G>T c.1227G>T c.12835G>T (p.Ala4279Ser) c.12820G>T (p.Ala4274Ser) c.12817G>T (p.Ala4273Ser) c.6204G>T c.12802G>T (p.Ala4268Ser) c.12832G>T (p.Ala4278Ser) | |
19 | g.38565169_38565187delinsGCGGCGGGGCTCGAGGGCA | CA2335084696 | RYR1 | c.1245_1263delinsGCGGCGGGGCTCGAGGGCA c.1227_1245delinsGCGGCGGGGCTCGAGGGCA c.12835_12853delinsGCGGCGGGGCTCGAGGGCA (p.Ala4279=) c.12820_12838delinsGCGGCGGGGCTCGAGGGCA (p.Ala4274=) c.12817_12835delinsGCGGCGGGGCTCGAGGGCA (p.Ala4273=) c.6204_6222delinsGCGGCGGGGCTCGAGGGCA c.12802_12820delinsGCGGCGGGGCTCGAGGGCA (p.Ala4268=) c.12832_12850delinsGCGGCGGGGCTCGAGGGCA (p.Ala4278=) | |
19 | g.38565174_38565194del | CA2736030513 | RYR1 | c.1250_1270del c.1232_1252del c.12840_12860del (p.Gly4281_Ala4287del) c.12825_12845del (p.Gly4276_Ala4282del) c.12822_12842del (p.Gly4275_Ala4281del) c.6209_6229del c.12807_12827del (p.Gly4270_Ala4276del) c.12837_12857del (p.Gly4280_Ala4286del) | dbSNP |
19 | g.38565178_38565210del | CA2584909122 | RYR1 | c.1254_1286del c.1236_1268del c.12844_12876del (p.Leu4282_Gly4292del) c.12829_12861del (p.Leu4277_Gly4287del) c.12826_12858del (p.Leu4276_Gly4286del) c.6213_6245del c.12811_12843del (p.Leu4271_Gly4281del) c.12841_12873del (p.Leu4281_Gly4291del) | gnomAD v4 |
19 | g.38565170C>A | CA405672226 | RYR1 | c.1246C>A c.1228C>A c.12836C>A (p.Ala4279Glu) c.12821C>A (p.Ala4274Glu) c.12818C>A (p.Ala4273Glu) c.6205C>A c.12803C>A (p.Ala4268Glu) c.12833C>A (p.Ala4278Glu) | gnomAD v4 |
19 | g.38565170C= | CA2335084697 | RYR1 | c.1246C= c.1228C= c.12836C= (p.Ala4279=) c.12821C= (p.Ala4274=) c.12818C= (p.Ala4273=) c.6205C= c.12803C= (p.Ala4268=) c.12833C= (p.Ala4278=) | |
19 | g.38565170C>G | CA405672222 | RYR1 | c.1246C>G c.1228C>G c.12836C>G (p.Ala4279Gly) c.12821C>G (p.Ala4274Gly) c.12818C>G (p.Ala4273Gly) c.6205C>G c.12803C>G (p.Ala4268Gly) c.12833C>G (p.Ala4278Gly) | gnomAD v4 |
19 | g.38565170C>T | CA405672216 | RYR1 | c.1246C>T c.1228C>T c.12836C>T (p.Ala4279Val) c.12821C>T (p.Ala4274Val) c.12818C>T (p.Ala4273Val) c.6205C>T c.12803C>T (p.Ala4268Val) c.12833C>T (p.Ala4278Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565176_38565193dup | CA882058466 | RYR1 | c.1252_1269dup c.1234_1251dup c.12842_12859dup (p.Ala4286_Ala4287insGlyLeuGluGlyThrAla) c.12827_12844dup (p.Ala4281_Ala4282insGlyLeuGluGlyThrAla) c.12824_12841dup (p.Ala4280_Ala4281insGlyLeuGluGlyThrAla) c.6211_6228dup c.12809_12826dup (p.Ala4275_Ala4276insGlyLeuGluGlyThrAla) c.12839_12856dup (p.Ala4285_Ala4286insGlyLeuGluGlyThrAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565176_38565193del | CA633066820 | RYR1 | c.1252_1269del c.1234_1251del c.12842_12859del (p.Gly4281_Ala4286del) c.12827_12844del (p.Gly4276_Ala4281del) c.12824_12841del (p.Gly4275_Ala4280del) c.6211_6228del c.12809_12826del (p.Gly4270_Ala4275del) c.12839_12856del (p.Gly4280_Ala4285del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565171G>A | CA507355419 | RYR1 | c.1247G>A c.1229G>A c.12837G>A (p.Ala4279=) c.12822G>A (p.Ala4274=) c.12819G>A (p.Ala4273=) c.6206G>A c.12804G>A (p.Ala4268=) c.12834G>A (p.Ala4278=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565171G>C | CA507355420 | RYR1 | c.1247G>C c.1229G>C c.12837G>C (p.Ala4279=) c.12822G>C (p.Ala4274=) c.12819G>C (p.Ala4273=) c.6206G>C c.12804G>C (p.Ala4268=) c.12834G>C (p.Ala4278=) | |
19 | g.38565171G= | CA2335084698 | RYR1 | c.1247G= c.1229G= c.12837G= (p.Ala4279=) c.12822G= (p.Ala4274=) c.12819G= (p.Ala4273=) c.6206G= c.12804G= (p.Ala4268=) c.12834G= (p.Ala4278=) | |
19 | g.38565171G>T | CA507355421 | RYR1 | c.1247G>T c.1229G>T c.12837G>T (p.Ala4279=) c.12822G>T (p.Ala4274=) c.12819G>T (p.Ala4273=) c.6206G>T c.12804G>T (p.Ala4268=) c.12834G>T (p.Ala4278=) | gnomAD v4 |
19 | g.38565174_38565178dup | CA2584909123 | RYR1 | c.1250_1254dup c.1232_1236dup c.12840_12844dup (p.Leu4282ArgfsTer?) c.12825_12829dup (p.Leu4277ArgfsTer?) c.12822_12826dup (p.Leu4276ArgfsTer?) c.6209_6213dup c.12807_12811dup (p.Leu4271ArgfsTer?) c.12837_12841dup (p.Leu4281ArgfsTer?) | gnomAD v4 |
19 | g.38565172G>A | CA080770 | RYR1 | c.1248G>A c.1230G>A c.12838G>A (p.Ala4280Thr) c.12823G>A (p.Ala4275Thr) c.12820G>A (p.Ala4274Thr) c.6207G>A c.12805G>A (p.Ala4269Thr) c.12835G>A (p.Ala4279Thr) | |
19 | g.38565172G>C | CA405672228 | RYR1 | c.1248G>C c.1230G>C c.12838G>C (p.Ala4280Pro) c.12823G>C (p.Ala4275Pro) c.12820G>C (p.Ala4274Pro) c.6207G>C c.12805G>C (p.Ala4269Pro) c.12835G>C (p.Ala4279Pro) | |
19 | g.38565172G>T | CA405672229 | RYR1 | c.1248G>T c.1230G>T c.12838G>T (p.Ala4280Ser) c.12823G>T (p.Ala4275Ser) c.12820G>T (p.Ala4274Ser) c.6207G>T c.12805G>T (p.Ala4269Ser) c.12835G>T (p.Ala4279Ser) | |
19 | g.38565173C>A | CA405672230 | RYR1 | c.1249C>A c.1231C>A c.12839C>A (p.Ala4280Glu) c.12824C>A (p.Ala4275Glu) c.12821C>A (p.Ala4274Glu) c.6208C>A c.12806C>A (p.Ala4269Glu) c.12836C>A (p.Ala4279Glu) | gnomAD v4 |
19 | g.38565173C= | CA2335084699 | RYR1 | c.1249C= c.1231C= c.12839C= (p.Ala4280=) c.12824C= (p.Ala4275=) c.12821C= (p.Ala4274=) c.6208C= c.12806C= (p.Ala4269=) c.12836C= (p.Ala4279=) | |
19 | g.38565173C>G | CA405672232 | RYR1 | c.1249C>G c.1231C>G c.12839C>G (p.Ala4280Gly) c.12824C>G (p.Ala4275Gly) c.12821C>G (p.Ala4274Gly) c.6208C>G c.12806C>G (p.Ala4269Gly) c.12836C>G (p.Ala4279Gly) | |
19 | g.38565173C>T | CA405672233 | RYR1 | c.1249C>T c.1231C>T c.12839C>T (p.Ala4280Val) c.12824C>T (p.Ala4275Val) c.12821C>T (p.Ala4274Val) c.6208C>T c.12806C>T (p.Ala4269Val) c.12836C>T (p.Ala4279Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565174G>A | CA507355426 | RYR1 | c.1250G>A c.1232G>A c.12840G>A (p.Ala4280=) c.12825G>A (p.Ala4275=) c.12822G>A (p.Ala4274=) c.6209G>A c.12807G>A (p.Ala4269=) c.12837G>A (p.Ala4279=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565174G>C | CA507355427 | RYR1 | c.1250G>C c.1232G>C c.12840G>C (p.Ala4280=) c.12825G>C (p.Ala4275=) c.12822G>C (p.Ala4274=) c.6209G>C c.12807G>C (p.Ala4269=) c.12837G>C (p.Ala4279=) | |
19 | g.38565174G= | CA2335084700 | RYR1 | c.1250G= c.1232G= c.12840G= (p.Ala4280=) c.12825G= (p.Ala4275=) c.12822G= (p.Ala4274=) c.6209G= c.12807G= (p.Ala4269=) c.12837G= (p.Ala4279=) | |
19 | g.38565174G>T | CA507355428 | RYR1 | c.1250G>T c.1232G>T c.12840G>T (p.Ala4280=) c.12825G>T (p.Ala4275=) c.12822G>T (p.Ala4274=) c.6209G>T c.12807G>T (p.Ala4269=) c.12837G>T (p.Ala4279=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565175G>A | CA405672245 | RYR1 | c.1251G>A c.1233G>A c.12841G>A (p.Gly4281Arg) c.12826G>A (p.Gly4276Arg) c.12823G>A (p.Gly4275Arg) c.6210G>A c.12808G>A (p.Gly4270Arg) c.12838G>A (p.Gly4280Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565175G>C | CA405672241 | RYR1 | c.1251G>C c.1233G>C c.12841G>C (p.Gly4281Arg) c.12826G>C (p.Gly4276Arg) c.12823G>C (p.Gly4275Arg) c.6210G>C c.12808G>C (p.Gly4270Arg) c.12838G>C (p.Gly4280Arg) | |
19 | g.38565175G= | CA2335084702 | RYR1 | c.1251G= c.1233G= c.12841G= (p.Gly4281=) c.12826G= (p.Gly4276=) c.12823G= (p.Gly4275=) c.6210G= c.12808G= (p.Gly4270=) c.12838G= (p.Gly4280=) | |
19 | g.38565175G>T | CA405672239 | RYR1 | c.1251G>T c.1233G>T c.12841G>T (p.Gly4281Trp) c.12826G>T (p.Gly4276Trp) c.12823G>T (p.Gly4275Trp) c.6210G>T c.12808G>T (p.Gly4270Trp) c.12838G>T (p.Gly4280Trp) | gnomAD v4 |
19 | g.38565179_38565186dup | CA2335084701 | RYR1 | c.1255_1262dup c.1237_1244dup c.12845_12852dup (p.Thr4285SerfsTer?) c.12830_12837dup (p.Thr4280SerfsTer?) c.12827_12834dup (p.Thr4279SerfsTer?) c.6214_6221dup c.12812_12819dup (p.Thr4274SerfsTer?) c.12842_12849dup (p.Thr4284SerfsTer?) | dbSNP |
19 | g.38565176G>A | CA059486 | RYR1 | c.1252G>A c.1234G>A c.12842G>A (p.Gly4281Glu) c.12827G>A (p.Gly4276Glu) c.12824G>A (p.Gly4275Glu) c.6211G>A c.12809G>A (p.Gly4270Glu) c.12839G>A (p.Gly4280Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565176G>C | CA308109264 | RYR1 | c.1252G>C c.1234G>C c.12842G>C (p.Gly4281Ala) c.12827G>C (p.Gly4276Ala) c.12824G>C (p.Gly4275Ala) c.6211G>C c.12809G>C (p.Gly4270Ala) c.12839G>C (p.Gly4280Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565176G= | CA2335084703 | RYR1 | c.1252G= c.1234G= c.12842G= (p.Gly4281=) c.12827G= (p.Gly4276=) c.12824G= (p.Gly4275=) c.6211G= c.12809G= (p.Gly4270=) c.12839G= (p.Gly4280=) | |
19 | g.38565176G>T | CA405672255 | RYR1 | c.1252G>T c.1234G>T c.12842G>T (p.Gly4281Val) c.12827G>T (p.Gly4276Val) c.12824G>T (p.Gly4275Val) c.6211G>T c.12809G>T (p.Gly4270Val) c.12839G>T (p.Gly4280Val) | dbSNP gnomAD v4 |
19 | g.38565177G>A | CA507355431 | RYR1 | c.1253G>A c.1235G>A c.12843G>A (p.Gly4281=) c.12828G>A (p.Gly4276=) c.12825G>A (p.Gly4275=) c.6212G>A c.12810G>A (p.Gly4270=) c.12840G>A (p.Gly4280=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565177G>C | CA507355432 | RYR1 | c.1253G>C c.1235G>C c.12843G>C (p.Gly4281=) c.12828G>C (p.Gly4276=) c.12825G>C (p.Gly4275=) c.6212G>C c.12810G>C (p.Gly4270=) c.12840G>C (p.Gly4280=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565177G= | CA2335084704 | RYR1 | c.1253G= c.1235G= c.12843G= (p.Gly4281=) c.12828G= (p.Gly4276=) c.12825G= (p.Gly4275=) c.6212G= c.12810G= (p.Gly4270=) c.12840G= (p.Gly4280=) | |
19 | g.38565177G>T | CA507355433 | RYR1 | c.1253G>T c.1235G>T c.12843G>T (p.Gly4281=) c.12828G>T (p.Gly4276=) c.12825G>T (p.Gly4275=) c.6212G>T c.12810G>T (p.Gly4270=) c.12840G>T (p.Gly4280=) | gnomAD v4 |
19 | g.38565177_38565194dup | CA2335084705 | RYR1 | c.1253_1270dup c.1235_1252dup c.12843_12860dup (p.Ala4287_Thr4288insLeuGluGlyThrAlaAla) c.12828_12845dup (p.Ala4282_Thr4283insLeuGluGlyThrAlaAla) c.12825_12842dup (p.Ala4281_Thr4282insLeuGluGlyThrAlaAla) c.6212_6229dup c.12810_12827dup (p.Ala4276_Thr4277insLeuGluGlyThrAlaAla) c.12840_12857dup (p.Ala4286_Thr4287insLeuGluGlyThrAlaAla) | dbSNP gnomAD v4 |
19 | g.38565178C>A | CA405672259 | RYR1 | c.1254C>A c.1236C>A c.12844C>A (p.Leu4282Ile) c.12829C>A (p.Leu4277Ile) c.12826C>A (p.Leu4276Ile) c.6213C>A c.12811C>A (p.Leu4271Ile) c.12841C>A (p.Leu4281Ile) | gnomAD v4 |
19 | g.38565178C= | CA2335084706 | RYR1 | c.1254C= c.1236C= c.12844C= (p.Leu4282=) c.12829C= (p.Leu4277=) c.12826C= (p.Leu4276=) c.6213C= c.12811C= (p.Leu4271=) c.12841C= (p.Leu4281=) | |
19 | g.38565178C>G | CA405672265 | RYR1 | c.1254C>G c.1236C>G c.12844C>G (p.Leu4282Val) c.12829C>G (p.Leu4277Val) c.12826C>G (p.Leu4276Val) c.6213C>G c.12811C>G (p.Leu4271Val) c.12841C>G (p.Leu4281Val) | |
19 | g.38565178C>T | CA405672268 | RYR1 | c.1254C>T c.1236C>T c.12844C>T (p.Leu4282Phe) c.12829C>T (p.Leu4277Phe) c.12826C>T (p.Leu4276Phe) c.6213C>T c.12811C>T (p.Leu4271Phe) c.12841C>T (p.Leu4281Phe) | dbSNP gnomAD v4 |
19 | g.38565179T>A | CA405672273 | RYR1 | c.1255T>A c.1237T>A c.12845T>A (p.Leu4282His) c.12830T>A (p.Leu4277His) c.12827T>A (p.Leu4276His) c.6214T>A c.12812T>A (p.Leu4271His) c.12842T>A (p.Leu4281His) | |
19 | g.38565179T>C | CA405672279 | RYR1 | c.1255T>C c.1237T>C c.12845T>C (p.Leu4282Pro) c.12830T>C (p.Leu4277Pro) c.12827T>C (p.Leu4276Pro) c.6214T>C c.12812T>C (p.Leu4271Pro) c.12842T>C (p.Leu4281Pro) | gnomAD v4 |
19 | g.38565179T>G | CA405672276 | RYR1 | c.1255T>G c.1237T>G c.12845T>G (p.Leu4282Arg) c.12830T>G (p.Leu4277Arg) c.12827T>G (p.Leu4276Arg) c.6214T>G c.12812T>G (p.Leu4271Arg) c.12842T>G (p.Leu4281Arg) | |
19 | g.38565180del | CA645609850 | RYR1 | c.1256del c.1238del c.12846del (p.Glu4283ArgfsTer?) c.12831del (p.Glu4278ArgfsTer?) c.12828del (p.Glu4277ArgfsTer?) c.6215del c.12813del (p.Glu4272ArgfsTer?) c.12843del (p.Glu4282ArgfsTer?) | COSMIC |
19 | g.38565180C>A | CA507355438 | RYR1 | c.1256C>A c.1238C>A c.12846C>A (p.Leu4282=) c.12831C>A (p.Leu4277=) c.12828C>A (p.Leu4276=) c.6215C>A c.12813C>A (p.Leu4271=) c.12843C>A (p.Leu4281=) | gnomAD v4 |
19 | g.38565180C= | CA2335084707 | RYR1 | c.1256C= c.1238C= c.12846C= (p.Leu4282=) c.12831C= (p.Leu4277=) c.12828C= (p.Leu4276=) c.6215C= c.12813C= (p.Leu4271=) c.12843C= (p.Leu4281=) | |
19 | g.38565180C>G | CA507355439 | RYR1 | c.1256C>G c.1238C>G c.12846C>G (p.Leu4282=) c.12831C>G (p.Leu4277=) c.12828C>G (p.Leu4276=) c.6215C>G c.12813C>G (p.Leu4271=) c.12843C>G (p.Leu4281=) | dbSNP |
19 | g.38565180C>T | CA507355440 | RYR1 | c.1256C>T c.1238C>T c.12846C>T (p.Leu4282=) c.12831C>T (p.Leu4277=) c.12828C>T (p.Leu4276=) c.6215C>T c.12813C>T (p.Leu4271=) c.12843C>T (p.Leu4281=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565181G>A | CA024009 | RYR1 | c.1257G>A c.1239G>A c.12847G>A (p.Glu4283Lys) c.12832G>A (p.Glu4278Lys) c.12829G>A (p.Glu4277Lys) c.6216G>A c.12814G>A (p.Glu4272Lys) c.12844G>A (p.Glu4282Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565181G>C | CA405672280 | RYR1 | c.1257G>C c.1239G>C c.12847G>C (p.Glu4283Gln) c.12832G>C (p.Glu4278Gln) c.12829G>C (p.Glu4277Gln) c.6216G>C c.12814G>C (p.Glu4272Gln) c.12844G>C (p.Glu4282Gln) | dbSNP gnomAD v4 |
19 | g.38565181G= | CA2335084708 | RYR1 | c.1257G= c.1239G= c.12847G= (p.Glu4283=) c.12832G= (p.Glu4278=) c.12829G= (p.Glu4277=) c.6216G= c.12814G= (p.Glu4272=) c.12844G= (p.Glu4282=) | |
19 | g.38565181G>T | CA405672281 | RYR1 | c.1257G>T c.1239G>T c.12847G>T (p.Glu4283Ter) c.12832G>T (p.Glu4278Ter) c.12829G>T (p.Glu4277Ter) c.6216G>T c.12814G>T (p.Glu4272Ter) c.12844G>T (p.Glu4282Ter) | gnomAD v4 COSMIC |
19 | g.38565182A= | CA2335084709 | RYR1 | c.1258A= c.1240A= c.12848A= (p.Glu4283=) c.12833A= (p.Glu4278=) c.12830A= (p.Glu4277=) c.6217A= c.12815A= (p.Glu4272=) c.12845A= (p.Glu4282=) | |
19 | g.38565182A>C | CA405672282 | RYR1 | c.1258A>C c.1240A>C c.12848A>C (p.Glu4283Ala) c.12833A>C (p.Glu4278Ala) c.12830A>C (p.Glu4277Ala) c.6217A>C c.12815A>C (p.Glu4272Ala) c.12845A>C (p.Glu4282Ala) | |
19 | g.38565182A>G | CA405672283 | RYR1 | c.1258A>G c.1240A>G c.12848A>G (p.Glu4283Gly) c.12833A>G (p.Glu4278Gly) c.12830A>G (p.Glu4277Gly) c.6217A>G c.12815A>G (p.Glu4272Gly) c.12845A>G (p.Glu4282Gly) | gnomAD v4 |
19 | g.38565182A>T | CA024011 | RYR1 | c.1258A>T c.1240A>T c.12848A>T (p.Glu4283Val) c.12833A>T (p.Glu4278Val) c.12830A>T (p.Glu4277Val) c.6217A>T c.12815A>T (p.Glu4272Val) c.12845A>T (p.Glu4282Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565183G>A | CA507355445 | RYR1 | c.1259G>A c.1241G>A c.12849G>A (p.Glu4283=) c.12834G>A (p.Glu4278=) c.12831G>A (p.Glu4277=) c.6218G>A c.12816G>A (p.Glu4272=) c.12846G>A (p.Glu4282=) | |
19 | g.38565183G>C | CA405672296 | RYR1 | c.1259G>C c.1241G>C c.12849G>C (p.Glu4283Asp) c.12834G>C (p.Glu4278Asp) c.12831G>C (p.Glu4277Asp) c.6218G>C c.12816G>C (p.Glu4272Asp) c.12846G>C (p.Glu4282Asp) | |
19 | g.38565183G>T | CA405672297 | RYR1 | c.1259G>T c.1241G>T c.12849G>T (p.Glu4283Asp) c.12834G>T (p.Glu4278Asp) c.12831G>T (p.Glu4277Asp) c.6218G>T c.12816G>T (p.Glu4272Asp) c.12846G>T (p.Glu4282Asp) | gnomAD v4 |
19 | g.38565185del | CA2576772096 | RYR1 | c.1261del c.1243del c.12851del (p.Gly4284AlafsTer?) c.12836del (p.Gly4279AlafsTer?) c.12833del (p.Gly4278AlafsTer?) c.6220del c.12818del (p.Gly4273AlafsTer?) c.12848del (p.Gly4283AlafsTer?) | |
19 | g.38565185_38565193dup | CA882058496 | RYR1 | c.1261_1269dup c.1243_1251dup c.12851_12859dup (p.Ala4286_Ala4287insGlyThrAla) c.12836_12844dup (p.Ala4281_Ala4282insGlyThrAla) c.12833_12841dup (p.Ala4280_Ala4281insGlyThrAla) c.6220_6228dup c.12818_12826dup (p.Ala4275_Ala4276insGlyThrAla) c.12848_12856dup (p.Ala4285_Ala4286insGlyThrAla) | dbSNP gnomAD v4 |
19 | g.38565184G>A | CA405672299 | RYR1 | c.1260G>A c.1242G>A c.12850G>A (p.Gly4284Ser) c.12835G>A (p.Gly4279Ser) c.12832G>A (p.Gly4278Ser) c.6219G>A c.12817G>A (p.Gly4273Ser) c.12847G>A (p.Gly4283Ser) | |
19 | g.38565184G>C | CA405672300 | RYR1 | c.1260G>C c.1242G>C c.12850G>C (p.Gly4284Arg) c.12835G>C (p.Gly4279Arg) c.12832G>C (p.Gly4278Arg) c.6219G>C c.12817G>C (p.Gly4273Arg) c.12847G>C (p.Gly4283Arg) | gnomAD v4 |
19 | g.38565184G>T | CA405672302 | RYR1 | c.1260G>T c.1242G>T c.12850G>T (p.Gly4284Cys) c.12835G>T (p.Gly4279Cys) c.12832G>T (p.Gly4278Cys) c.6219G>T c.12817G>T (p.Gly4273Cys) c.12847G>T (p.Gly4283Cys) | gnomAD v4 |
19 | g.38565185G>A | CA405672310 | RYR1 | c.1261G>A c.1243G>A c.12851G>A (p.Gly4284Asp) c.12836G>A (p.Gly4279Asp) c.12833G>A (p.Gly4278Asp) c.6220G>A c.12818G>A (p.Gly4273Asp) c.12848G>A (p.Gly4283Asp) | gnomAD v4 |
19 | g.38565185G>C | CA405672314 | RYR1 | c.1261G>C c.1243G>C c.12851G>C (p.Gly4284Ala) c.12836G>C (p.Gly4279Ala) c.12833G>C (p.Gly4278Ala) c.6220G>C c.12818G>C (p.Gly4273Ala) c.12848G>C (p.Gly4283Ala) | dbSNP gnomAD v4 |
19 | g.38565185G= | CA2335084710 | RYR1 | c.1261G= c.1243G= c.12851G= (p.Gly4284=) c.12836G= (p.Gly4279=) c.12833G= (p.Gly4278=) c.6220G= c.12818G= (p.Gly4273=) c.12848G= (p.Gly4283=) | |
19 | g.38565185G>T | CA308109281 | RYR1 | c.1261G>T c.1243G>T c.12851G>T (p.Gly4284Val) c.12836G>T (p.Gly4279Val) c.12833G>T (p.Gly4278Val) c.6220G>T c.12818G>T (p.Gly4273Val) c.12848G>T (p.Gly4283Val) | dbSNP |
19 | g.38565185_38565194delinsGCACGGCGGC | CA2335084711 | RYR1 | c.1261_1270delinsGCACGGCGGC c.1243_1252delinsGCACGGCGGC c.12851_12860delinsGCACGGCGGC (p.Gly4284=) c.12836_12845delinsGCACGGCGGC (p.Gly4279=) c.12833_12842delinsGCACGGCGGC (p.Gly4278=) c.6220_6229delinsGCACGGCGGC c.12818_12827delinsGCACGGCGGC (p.Gly4273=) c.12848_12857delinsGCACGGCGGC (p.Gly4283=) | |
19 | g.38565186C>A | CA507355451 | RYR1 | c.1262C>A c.1244C>A c.12852C>A (p.Gly4284=) c.12837C>A (p.Gly4279=) c.12834C>A (p.Gly4278=) c.6221C>A c.12819C>A (p.Gly4273=) c.12849C>A (p.Gly4283=) | gnomAD v4 |
19 | g.38565186C= | CA2335084712 | RYR1 | c.1262C= c.1244C= c.12852C= (p.Gly4284=) c.12837C= (p.Gly4279=) c.12834C= (p.Gly4278=) c.6221C= c.12819C= (p.Gly4273=) c.12849C= (p.Gly4283=) | |
19 | g.38565186C>G | CA507355448 | RYR1 | c.1262C>G c.1244C>G c.12852C>G (p.Gly4284=) c.12837C>G (p.Gly4279=) c.12834C>G (p.Gly4278=) c.6221C>G c.12819C>G (p.Gly4273=) c.12849C>G (p.Gly4283=) | |
19 | g.38565186C>T | CA507355447 | RYR1 | c.1262C>T c.1244C>T c.12852C>T (p.Gly4284=) c.12837C>T (p.Gly4279=) c.12834C>T (p.Gly4278=) c.6221C>T c.12819C>T (p.Gly4273=) c.12849C>T (p.Gly4283=) | gnomAD v4 |
19 | g.38565195_38565203dup | CA024013 | RYR1 | c.1271_1279dup c.1253_1261dup c.12861_12869dup (p.Ala4290_Ala4291insThrAlaAla) c.12846_12854dup (p.Ala4285_Ala4286insThrAlaAla) c.12843_12851dup (p.Ala4284_Ala4285insThrAlaAla) c.6230_6238dup c.12828_12836dup (p.Ala4279_Ala4280insThrAlaAla) c.12858_12866dup (p.Ala4289_Ala4290insThrAlaAla) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565186_38565203dup | CA891863127 | RYR1 | c.1262_1279dup c.1244_1261dup c.12852_12869dup (p.Ala4290_Ala4291insThrAlaAlaThrAlaAla) c.12837_12854dup (p.Ala4285_Ala4286insThrAlaAlaThrAlaAla) c.12834_12851dup (p.Ala4284_Ala4285insThrAlaAlaThrAlaAla) c.6221_6238dup c.12819_12836dup (p.Ala4279_Ala4280insThrAlaAlaThrAlaAla) c.12849_12866dup (p.Ala4289_Ala4290insThrAlaAlaThrAlaAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565195_38565203del | CA080772 | RYR1 | c.1271_1279del c.1253_1261del c.12861_12869del (p.Thr4288_Ala4290del) c.12846_12854del (p.Thr4283_Ala4285del) c.12843_12851del (p.Thr4282_Ala4284del) c.6230_6238del c.12828_12836del (p.Thr4277_Ala4279del) c.12858_12866del (p.Thr4287_Ala4289del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565187A= | CA2335084713 | RYR1 | c.1263A= c.1245A= c.12853A= (p.Thr4285=) c.12838A= (p.Thr4280=) c.12835A= (p.Thr4279=) c.6222A= c.12820A= (p.Thr4274=) c.12850A= (p.Thr4284=) | |
19 | g.38565187A>C | CA405672333 | RYR1 | c.1263A>C c.1245A>C c.12853A>C (p.Thr4285Pro) c.12838A>C (p.Thr4280Pro) c.12835A>C (p.Thr4279Pro) c.6222A>C c.12820A>C (p.Thr4274Pro) c.12850A>C (p.Thr4284Pro) | |
19 | g.38565187A>G | CA405672317 | RYR1 | c.1263A>G c.1245A>G c.12853A>G (p.Thr4285Ala) c.12838A>G (p.Thr4280Ala) c.12835A>G (p.Thr4279Ala) c.6222A>G c.12820A>G (p.Thr4274Ala) c.12850A>G (p.Thr4284Ala) | dbSNP gnomAD v4 |
19 | g.38565187A>T | CA405672331 | RYR1 | c.1263A>T c.1245A>T c.12853A>T (p.Thr4285Ser) c.12838A>T (p.Thr4280Ser) c.12835A>T (p.Thr4279Ser) c.6222A>T c.12820A>T (p.Thr4274Ser) c.12850A>T (p.Thr4284Ser) | dbSNP |
19 | g.38565187_38565198dup | CA915953152 | RYR1 | c.1263_1274dup c.1245_1256dup c.12853_12864dup (p.Thr4288_Ala4289insThrAlaAlaThr) c.12838_12849dup (p.Thr4283_Ala4284insThrAlaAlaThr) c.12835_12846dup (p.Thr4282_Ala4283insThrAlaAlaThr) c.6222_6233dup c.12820_12831dup (p.Thr4277_Ala4278insThrAlaAlaThr) c.12850_12861dup (p.Thr4287_Ala4288insThrAlaAlaThr) | ClinVar dbSNP gnomAD v4 |
19 | g.38565188C>A | CA405672335 | RYR1 | c.1264C>A c.1246C>A c.12854C>A (p.Thr4285Lys) c.12839C>A (p.Thr4280Lys) c.12836C>A (p.Thr4279Lys) c.6223C>A c.12821C>A (p.Thr4274Lys) c.12851C>A (p.Thr4284Lys) | gnomAD v4 |
19 | g.38565188C>G | CA405672336 | RYR1 | c.1264C>G c.1246C>G c.12854C>G (p.Thr4285Arg) c.12839C>G (p.Thr4280Arg) c.12836C>G (p.Thr4279Arg) c.6223C>G c.12821C>G (p.Thr4274Arg) c.12851C>G (p.Thr4284Arg) | gnomAD v4 |
19 | g.38565188C>T | CA405672337 | RYR1 | c.1264C>T c.1246C>T c.12854C>T (p.Thr4285Met) c.12839C>T (p.Thr4280Met) c.12836C>T (p.Thr4279Met) c.6223C>T c.12821C>T (p.Thr4274Met) c.12851C>T (p.Thr4284Met) | ClinVar dbSNP gnomAD v4 |
19 | g.38565189G>A | CA507355456 | RYR1 | c.1265G>A c.1247G>A c.12855G>A (p.Thr4285=) c.12840G>A (p.Thr4280=) c.12837G>A (p.Thr4279=) c.6224G>A c.12822G>A (p.Thr4274=) c.12852G>A (p.Thr4284=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565189G>C | CA507355455 | RYR1 | c.1265G>C c.1247G>C c.12855G>C (p.Thr4285=) c.12840G>C (p.Thr4280=) c.12837G>C (p.Thr4279=) c.6224G>C c.12822G>C (p.Thr4274=) c.12852G>C (p.Thr4284=) | gnomAD v4 |
19 | g.38565189G= | CA2335084714 | RYR1 | c.1265G= c.1247G= c.12855G= (p.Thr4285=) c.12840G= (p.Thr4280=) c.12837G= (p.Thr4279=) c.6224G= c.12822G= (p.Thr4274=) c.12852G= (p.Thr4284=) | |
19 | g.38565189G>T | CA507355454 | RYR1 | c.1265G>T c.1247G>T c.12855G>T (p.Thr4285=) c.12840G>T (p.Thr4280=) c.12837G>T (p.Thr4279=) c.6224G>T c.12822G>T (p.Thr4274=) c.12852G>T (p.Thr4284=) | gnomAD v4 |
19 | g.38565190G>A | CA405672338 | RYR1 | c.1266G>A c.1248G>A c.12856G>A (p.Ala4286Thr) c.12841G>A (p.Ala4281Thr) c.12838G>A (p.Ala4280Thr) c.6225G>A c.12823G>A (p.Ala4275Thr) c.12853G>A (p.Ala4285Thr) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565190G>C | CA405672339 | RYR1 | c.1266G>C c.1248G>C c.12856G>C (p.Ala4286Pro) c.12841G>C (p.Ala4281Pro) c.12838G>C (p.Ala4280Pro) c.6225G>C c.12823G>C (p.Ala4275Pro) c.12853G>C (p.Ala4285Pro) | |
19 | g.38565190G= | CA2335084715 | RYR1 | c.1266G= c.1248G= c.12856G= (p.Ala4286=) c.12841G= (p.Ala4281=) c.12838G= (p.Ala4280=) c.6225G= c.12823G= (p.Ala4275=) c.12853G= (p.Ala4285=) | |
19 | g.38565190G>T | CA405672341 | RYR1 | c.1266G>T c.1248G>T c.12856G>T (p.Ala4286Ser) c.12841G>T (p.Ala4281Ser) c.12838G>T (p.Ala4280Ser) c.6225G>T c.12823G>T (p.Ala4275Ser) c.12853G>T (p.Ala4285Ser) | |
19 | g.38565191C>A | CA405672343 | RYR1 | c.1267C>A c.1249C>A c.12857C>A (p.Ala4286Glu) c.12842C>A (p.Ala4281Glu) c.12839C>A (p.Ala4280Glu) c.6226C>A c.12824C>A (p.Ala4275Glu) c.12854C>A (p.Ala4285Glu) | ClinVar dbSNP gnomAD v4 |
19 | g.38565191C= | CA2335084716 | RYR1 | c.1267C= c.1249C= c.12857C= (p.Ala4286=) c.12842C= (p.Ala4281=) c.12839C= (p.Ala4280=) c.6226C= c.12824C= (p.Ala4275=) c.12854C= (p.Ala4285=) | |
19 | g.38565191C>G | CA405672344 | RYR1 | c.1267C>G c.1249C>G c.12857C>G (p.Ala4286Gly) c.12842C>G (p.Ala4281Gly) c.12839C>G (p.Ala4280Gly) c.6226C>G c.12824C>G (p.Ala4275Gly) c.12854C>G (p.Ala4285Gly) | ClinVar dbSNP gnomAD v4 |
19 | g.38565191C>T | CA405672345 | RYR1 | c.1267C>T c.1249C>T c.12857C>T (p.Ala4286Val) c.12842C>T (p.Ala4281Val) c.12839C>T (p.Ala4280Val) c.6226C>T c.12824C>T (p.Ala4275Val) c.12854C>T (p.Ala4285Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565191_38565192insCTG | CA2584909125 | RYR1 | c.1267_1268insCTG c.1249_1250insCTG c.12857_12858insCTG (p.Ala4286_Ala4287insTrp) c.12842_12843insCTG (p.Ala4281_Ala4282insTrp) c.12839_12840insCTG (p.Ala4280_Ala4281insTrp) c.6226_6227insCTG c.12824_12825insCTG (p.Ala4275_Ala4276insTrp) c.12854_12855insCTG (p.Ala4285_Ala4286insTrp) | gnomAD v4 |
19 | g.38565192G>A | CA507355462 | RYR1 | c.1268G>A c.1250G>A c.12858G>A (p.Ala4286=) c.12843G>A (p.Ala4281=) c.12840G>A (p.Ala4280=) c.6227G>A c.12825G>A (p.Ala4275=) c.12855G>A (p.Ala4285=) | dbSNP gnomAD v4 |
19 | g.38565192G>C | CA507355463 | RYR1 | c.1268G>C c.1250G>C c.12858G>C (p.Ala4286=) c.12843G>C (p.Ala4281=) c.12840G>C (p.Ala4280=) c.6227G>C c.12825G>C (p.Ala4275=) c.12855G>C (p.Ala4285=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565192G= | CA2335084717 | RYR1 | c.1268G= c.1250G= c.12858G= (p.Ala4286=) c.12843G= (p.Ala4281=) c.12840G= (p.Ala4280=) c.6227G= c.12825G= (p.Ala4275=) c.12855G= (p.Ala4285=) | |
19 | g.38565192G>T | CA507355464 | RYR1 | c.1268G>T c.1250G>T c.12858G>T (p.Ala4286=) c.12843G>T (p.Ala4281=) c.12840G>T (p.Ala4280=) c.6227G>T c.12825G>T (p.Ala4275=) c.12855G>T (p.Ala4285=) | gnomAD v4 |
19 | g.38565193dup | CA2584909124 | RYR1 | c.1269dup c.1251dup c.12859dup (p.Ala4287GlyfsTer?) c.12844dup (p.Ala4282GlyfsTer?) c.12841dup (p.Ala4281GlyfsTer?) c.6228dup c.12826dup (p.Ala4276GlyfsTer?) c.12856dup (p.Ala4286GlyfsTer?) | gnomAD v4 |
19 | g.38565195_38565212dup | CA995731487 | RYR1 | c.1271_1288dup c.1253_1270dup c.12861_12878dup (p.Ala4293_Thr4294insThrAlaAlaAlaGlyAla) c.12846_12863dup (p.Ala4288_Thr4289insThrAlaAlaAlaGlyAla) c.12843_12860dup (p.Ala4287_Thr4288insThrAlaAlaAlaGlyAla) c.6230_6247dup c.12828_12845dup (p.Ala4282_Thr4283insThrAlaAlaAlaGlyAla) c.12858_12875dup (p.Ala4292_Thr4293insThrAlaAlaAlaGlyAla) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565193G>A | CA405672349 | RYR1 | c.1269G>A c.1251G>A c.12859G>A (p.Ala4287Thr) c.12844G>A (p.Ala4282Thr) c.12841G>A (p.Ala4281Thr) c.6228G>A c.12826G>A (p.Ala4276Thr) c.12856G>A (p.Ala4286Thr) | gnomAD v4 |
19 | g.38565193G>C | CA405672346 | RYR1 | c.1269G>C c.1251G>C c.12859G>C (p.Ala4287Pro) c.12844G>C (p.Ala4282Pro) c.12841G>C (p.Ala4281Pro) c.6228G>C c.12826G>C (p.Ala4276Pro) c.12856G>C (p.Ala4286Pro) | |
19 | g.38565193G>T | CA405672347 | RYR1 | c.1269G>T c.1251G>T c.12859G>T (p.Ala4287Ser) c.12844G>T (p.Ala4282Ser) c.12841G>T (p.Ala4281Ser) c.6228G>T c.12826G>T (p.Ala4276Ser) c.12856G>T (p.Ala4286Ser) | gnomAD v4 |
19 | g.38565193_38565194insGGCTCGAG | CA2584909126 | RYR1 | c.1269_1270insGGCTCGAG c.1251_1252insGGCTCGAG c.12859_12860insGGCTCGAG (p.Ala4287GlyfsTer?) c.12844_12845insGGCTCGAG (p.Ala4282GlyfsTer?) c.12841_12842insGGCTCGAG (p.Ala4281GlyfsTer?) c.6228_6229insGGCTCGAG c.12826_12827insGGCTCGAG (p.Ala4276GlyfsTer?) c.12856_12857insGGCTCGAG (p.Ala4286GlyfsTer?) | gnomAD v4 |
19 | g.38565193_38565196delinsGCCA | CA2335084719 | RYR1 | c.1269_1272delinsGCCA c.1251_1254delinsGCCA c.12859_12862delinsGCCA (p.Ala4287=) c.12844_12847delinsGCCA (p.Ala4282=) c.12841_12844delinsGCCA (p.Ala4281=) c.6228_6231delinsGCCA c.12826_12829delinsGCCA (p.Ala4276=) c.12856_12859delinsGCCA (p.Ala4286=) | |
19 | g.38565193_38565203delinsGCCACGGCGGC | CA2335084718 | RYR1 | c.1269_1279delinsGCCACGGCGGC c.1251_1261delinsGCCACGGCGGC c.12859_12869delinsGCCACGGCGGC (p.Ala4287=) c.12844_12854delinsGCCACGGCGGC (p.Ala4282=) c.12841_12851delinsGCCACGGCGGC (p.Ala4281=) c.6228_6238delinsGCCACGGCGGC c.12826_12836delinsGCCACGGCGGC (p.Ala4276=) c.12856_12866delinsGCCACGGCGGC (p.Ala4286=) | |
19 | g.38565194C>A | CA405672351 | RYR1 | c.1270C>A c.1252C>A c.12860C>A (p.Ala4287Asp) c.12845C>A (p.Ala4282Asp) c.12842C>A (p.Ala4281Asp) c.6229C>A c.12827C>A (p.Ala4276Asp) c.12857C>A (p.Ala4286Asp) | gnomAD v4 |
19 | g.38565194C= | CA2335084720 | RYR1 | c.1270C= c.1252C= c.12860C= (p.Ala4287=) c.12845C= (p.Ala4282=) c.12842C= (p.Ala4281=) c.6229C= c.12827C= (p.Ala4276=) c.12857C= (p.Ala4286=) | |
19 | g.38565194C>G | CA405672354 | RYR1 | c.1270C>G c.1252C>G c.12860C>G (p.Ala4287Gly) c.12845C>G (p.Ala4282Gly) c.12842C>G (p.Ala4281Gly) c.6229C>G c.12827C>G (p.Ala4276Gly) c.12857C>G (p.Ala4286Gly) | ClinVar dbSNP gnomAD v4 |
19 | g.38565194C>T | CA405672355 | RYR1 | c.1270C>T c.1252C>T c.12860C>T (p.Ala4287Val) c.12845C>T (p.Ala4282Val) c.12842C>T (p.Ala4281Val) c.6229C>T c.12827C>T (p.Ala4276Val) c.12857C>T (p.Ala4286Val) | gnomAD v4 |
19 | g.38565194_38565197del | CA2584909127 | RYR1 | c.1270_1273del c.1252_1255del c.12860_12863del (p.Ala4287GlyfsTer?) c.12845_12848del (p.Ala4282GlyfsTer?) c.12842_12845del (p.Ala4281GlyfsTer?) c.6229_6232del c.12827_12830del (p.Ala4276GlyfsTer?) c.12857_12860del (p.Ala4286GlyfsTer?) | gnomAD v4 |
19 | g.38565195_38565197del | CA633066821 | RYR1 | c.1271_1273del c.1253_1255del c.12861_12863del (p.Thr4288del) c.12846_12848del (p.Thr4283del) c.12843_12845del (p.Thr4282del) c.6230_6232del c.12828_12830del (p.Thr4277del) c.12858_12860del (p.Thr4287del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565194_38565203delinsT | CA248295 | RYR1 | c.1270_1279delinsT c.1252_1261delinsT c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) c.12845_12854delinsT (p.Ala4282_Ala4285delinsVal) c.12842_12851delinsT (p.Ala4281_Ala4284delinsVal) c.6229_6238delinsT c.12827_12836delinsT (p.Ala4276_Ala4279delinsVal) c.12857_12866delinsT (p.Ala4286_Ala4289delinsVal) | ClinVar dbSNP |
19 | g.38565195C>A | CA507355469 | RYR1 | c.1271C>A c.1253C>A c.12861C>A (p.Ala4287=) c.12846C>A (p.Ala4282=) c.12843C>A (p.Ala4281=) c.6230C>A c.12828C>A (p.Ala4276=) c.12858C>A (p.Ala4286=) | |
19 | g.38565195C= | CA2335084721 | RYR1 | c.1271C= c.1253C= c.12861C= (p.Ala4287=) c.12846C= (p.Ala4282=) c.12843C= (p.Ala4281=) c.6230C= c.12828C= (p.Ala4276=) c.12858C= (p.Ala4286=) | |
19 | g.38565195C>G | CA507355470 | RYR1 | c.1271C>G c.1253C>G c.12861C>G (p.Ala4287=) c.12846C>G (p.Ala4282=) c.12843C>G (p.Ala4281=) c.6230C>G c.12828C>G (p.Ala4276=) c.12858C>G (p.Ala4286=) | |
19 | g.38565195C>T | CA507355471 | RYR1 | c.1271C>T c.1253C>T c.12861C>T (p.Ala4287=) c.12846C>T (p.Ala4282=) c.12843C>T (p.Ala4281=) c.6230C>T c.12828C>T (p.Ala4276=) c.12858C>T (p.Ala4286=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565196A>C | CA405672358 | RYR1 | c.1272A>C c.1254A>C c.12862A>C (p.Thr4288Pro) c.12847A>C (p.Thr4283Pro) c.12844A>C (p.Thr4282Pro) c.6231A>C c.12829A>C (p.Thr4277Pro) c.12859A>C (p.Thr4287Pro) | |
19 | g.38565196A>G | CA405672361 | RYR1 | c.1272A>G c.1254A>G c.12862A>G (p.Thr4288Ala) c.12847A>G (p.Thr4283Ala) c.12844A>G (p.Thr4282Ala) c.6231A>G c.12829A>G (p.Thr4277Ala) c.12859A>G (p.Thr4287Ala) | gnomAD v3 gnomAD v4 |
19 | g.38565196A>T | CA405672364 | RYR1 | c.1272A>T c.1254A>T c.12862A>T (p.Thr4288Ser) c.12847A>T (p.Thr4283Ser) c.12844A>T (p.Thr4282Ser) c.6231A>T c.12829A>T (p.Thr4277Ser) c.12859A>T (p.Thr4287Ser) | gnomAD v4 |
19 | g.38565196_38565202delinsACGGCGG | CA2335084722 | RYR1 | c.1272_1278delinsACGGCGG c.1254_1260delinsACGGCGG c.12862_12868delinsACGGCGG (p.Thr4288=) c.12847_12853delinsACGGCGG (p.Thr4283=) c.12844_12850delinsACGGCGG (p.Thr4282=) c.6231_6237delinsACGGCGG c.12829_12835delinsACGGCGG (p.Thr4277=) c.12859_12865delinsACGGCGG (p.Thr4287=) | |
19 | g.38565196_38565204del | CA2576772097 | RYR1 | c.1272_1280del c.1254_1262del c.12862_12870del (p.Thr4288_Ala4290del) c.12847_12855del (p.Thr4283_Ala4285del) c.12844_12852del (p.Thr4282_Ala4284del) c.6231_6239del c.12829_12837del (p.Thr4277_Ala4279del) c.12859_12867del (p.Thr4287_Ala4289del) | |
19 | g.38565197C>A | CA405672366 | RYR1 | c.1273C>A c.1255C>A c.12863C>A (p.Thr4288Lys) c.12848C>A (p.Thr4283Lys) c.12845C>A (p.Thr4282Lys) c.6232C>A c.12830C>A (p.Thr4277Lys) c.12860C>A (p.Thr4287Lys) | gnomAD v4 |
19 | g.38565197C= | CA2335084723 | RYR1 | c.1273C= c.1255C= c.12863C= (p.Thr4288=) c.12848C= (p.Thr4283=) c.12845C= (p.Thr4282=) c.6232C= c.12830C= (p.Thr4277=) c.12860C= (p.Thr4287=) | |
19 | g.38565197C>G | CA405672369 | RYR1 | c.1273C>G c.1255C>G c.12863C>G (p.Thr4288Arg) c.12848C>G (p.Thr4283Arg) c.12845C>G (p.Thr4282Arg) c.6232C>G c.12830C>G (p.Thr4277Arg) c.12860C>G (p.Thr4287Arg) | |
19 | g.38565197C>T | CA308109304 | RYR1 | c.1273C>T c.1255C>T c.12863C>T (p.Thr4288Met) c.12848C>T (p.Thr4283Met) c.12845C>T (p.Thr4282Met) c.6232C>T c.12830C>T (p.Thr4277Met) c.12860C>T (p.Thr4287Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565206_38565208dup | CA882058555 | RYR1 | c.1282_1284dup c.1264_1266dup c.12872_12874dup (p.Ala4291_Gly4292insAla) c.12857_12859dup (p.Ala4286_Gly4287insAla) c.12854_12856dup (p.Ala4285_Gly4286insAla) c.6241_6243dup c.12839_12841dup (p.Ala4280_Gly4281insAla) c.12869_12871dup (p.Ala4290_Gly4291insAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565206_38565208del | CA2335084724 | RYR1 | c.1282_1284del c.1264_1266del c.12872_12874del (p.Ala4291del) c.12857_12859del (p.Ala4286del) c.12854_12856del (p.Ala4285del) c.6241_6243del c.12839_12841del (p.Ala4280del) c.12869_12871del (p.Ala4290del) | dbSNP gnomAD v4 |
19 | g.38565203_38565208del | CA633066822 | RYR1 | c.1279_1284del c.1261_1266del c.12869_12874del (p.Ala4290_Ala4291del) c.12854_12859del (p.Ala4285_Ala4286del) c.12851_12856del (p.Ala4284_Ala4285del) c.6238_6243del c.12836_12841del (p.Ala4279_Ala4280del) c.12866_12871del (p.Ala4289_Ala4290del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565198G>A | CA507355474 | RYR1 | c.1274G>A c.1256G>A c.12864G>A (p.Thr4288=) c.12849G>A (p.Thr4283=) c.12846G>A (p.Thr4282=) c.6233G>A c.12831G>A (p.Thr4277=) c.12861G>A (p.Thr4287=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565198G>C | CA507355475 | RYR1 | c.1274G>C c.1256G>C c.12864G>C (p.Thr4288=) c.12849G>C (p.Thr4283=) c.12846G>C (p.Thr4282=) c.6233G>C c.12831G>C (p.Thr4277=) c.12861G>C (p.Thr4287=) | |
19 | g.38565198G= | CA2335084725 | RYR1 | c.1274G= c.1256G= c.12864G= (p.Thr4288=) c.12849G= (p.Thr4283=) c.12846G= (p.Thr4282=) c.6233G= c.12831G= (p.Thr4277=) c.12861G= (p.Thr4287=) | |
19 | g.38565198G>T | CA507355476 | RYR1 | c.1274G>T c.1256G>T c.12864G>T (p.Thr4288=) c.12849G>T (p.Thr4283=) c.12846G>T (p.Thr4282=) c.6233G>T c.12831G>T (p.Thr4277=) c.12861G>T (p.Thr4287=) | gnomAD v4 |
19 | g.38565202_38565213del | CA2576772098 | RYR1 | c.1278_1289del c.1260_1271del c.12868_12879del (p.Ala4290_Ala4293del) c.12853_12864del (p.Ala4285_Ala4288del) c.12850_12861del (p.Ala4284_Ala4287del) c.6237_6248del c.12835_12846del (p.Ala4279_Ala4282del) c.12865_12876del (p.Ala4289_Ala4292del) | gnomAD v4 |
19 | g.38565199G>A | CA405672373 | RYR1 | c.1275G>A c.1257G>A c.12865G>A (p.Ala4289Thr) c.12850G>A (p.Ala4284Thr) c.12847G>A (p.Ala4283Thr) c.6234G>A c.12832G>A (p.Ala4278Thr) c.12862G>A (p.Ala4288Thr) | gnomAD v4 |
19 | g.38565199G>C | CA405672377 | RYR1 | c.1275G>C c.1257G>C c.12865G>C (p.Ala4289Pro) c.12850G>C (p.Ala4284Pro) c.12847G>C (p.Ala4283Pro) c.6234G>C c.12832G>C (p.Ala4278Pro) c.12862G>C (p.Ala4288Pro) | |
19 | g.38565199G>T | CA405672375 | RYR1 | c.1275G>T c.1257G>T c.12865G>T (p.Ala4289Ser) c.12850G>T (p.Ala4284Ser) c.12847G>T (p.Ala4283Ser) c.6234G>T c.12832G>T (p.Ala4278Ser) c.12862G>T (p.Ala4288Ser) | |
19 | g.38565200C>A | CA405672380 | RYR1 | c.1276C>A c.1258C>A c.12866C>A (p.Ala4289Glu) c.12851C>A (p.Ala4284Glu) c.12848C>A (p.Ala4283Glu) c.6235C>A c.12833C>A (p.Ala4278Glu) c.12863C>A (p.Ala4288Glu) | gnomAD v4 |
19 | g.38565200C>G | CA405672382 | RYR1 | c.1276C>G c.1258C>G c.12866C>G (p.Ala4289Gly) c.12851C>G (p.Ala4284Gly) c.12848C>G (p.Ala4283Gly) c.6235C>G c.12833C>G (p.Ala4278Gly) c.12863C>G (p.Ala4288Gly) | gnomAD v4 |
19 | g.38565200C>T | CA405672383 | RYR1 | c.1276C>T c.1258C>T c.12866C>T (p.Ala4289Val) c.12851C>T (p.Ala4284Val) c.12848C>T (p.Ala4283Val) c.6235C>T c.12833C>T (p.Ala4278Val) c.12863C>T (p.Ala4288Val) | gnomAD v4 |
19 | g.38565200_38565209delinsCGGCGGCGGG | CA2335084726 | RYR1 | c.1276_1285delinsCGGCGGCGGG c.1258_1267delinsCGGCGGCGGG c.12866_12875delinsCGGCGGCGGG (p.Ala4289=) c.12851_12860delinsCGGCGGCGGG (p.Ala4284=) c.12848_12857delinsCGGCGGCGGG (p.Ala4283=) c.6235_6244delinsCGGCGGCGGG c.12833_12842delinsCGGCGGCGGG (p.Ala4278=) c.12863_12872delinsCGGCGGCGGG (p.Ala4288=) | |
19 | g.38565201G>A | CA507355481 | RYR1 | c.1277G>A c.1259G>A c.12867G>A (p.Ala4289=) c.12852G>A (p.Ala4284=) c.12849G>A (p.Ala4283=) c.6236G>A c.12834G>A (p.Ala4278=) c.12864G>A (p.Ala4288=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565201G>C | CA507355482 | RYR1 | c.1277G>C c.1259G>C c.12867G>C (p.Ala4289=) c.12852G>C (p.Ala4284=) c.12849G>C (p.Ala4283=) c.6236G>C c.12834G>C (p.Ala4278=) c.12864G>C (p.Ala4288=) | |
19 | g.38565201G= | CA2335084727 | RYR1 | c.1277G= c.1259G= c.12867G= (p.Ala4289=) c.12852G= (p.Ala4284=) c.12849G= (p.Ala4283=) c.6236G= c.12834G= (p.Ala4278=) c.12864G= (p.Ala4288=) | |
19 | g.38565201G>T | CA507355485 | RYR1 | c.1277G>T c.1259G>T c.12867G>T (p.Ala4289=) c.12852G>T (p.Ala4284=) c.12849G>T (p.Ala4283=) c.6236G>T c.12834G>T (p.Ala4278=) c.12864G>T (p.Ala4288=) | gnomAD v4 |
19 | g.38565205_38565213del | CA882058564 | RYR1 | c.1281_1289del c.1263_1271del c.12871_12879del (p.Ala4291_Ala4293del) c.12856_12864del (p.Ala4286_Ala4288del) c.12853_12861del (p.Ala4285_Ala4287del) c.6240_6248del c.12838_12846del (p.Ala4280_Ala4282del) c.12868_12876del (p.Ala4290_Ala4292del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565202G>A | CA405672385 | RYR1 | c.1278G>A c.1260G>A c.12868G>A (p.Ala4290Thr) c.12853G>A (p.Ala4285Thr) c.12850G>A (p.Ala4284Thr) c.6237G>A c.12835G>A (p.Ala4279Thr) c.12865G>A (p.Ala4289Thr) | gnomAD v4 |
19 | g.38565202G>C | CA405672386 | RYR1 | c.1278G>C c.1260G>C c.12868G>C (p.Ala4290Pro) c.12853G>C (p.Ala4285Pro) c.12850G>C (p.Ala4284Pro) c.6237G>C c.12835G>C (p.Ala4279Pro) c.12865G>C (p.Ala4289Pro) | gnomAD v4 |
19 | g.38565202G= | CA2335084728 | RYR1 | c.1278G= c.1260G= c.12868G= (p.Ala4290=) c.12853G= (p.Ala4285=) c.12850G= (p.Ala4284=) c.6237G= c.12835G= (p.Ala4279=) c.12865G= (p.Ala4289=) | |
19 | g.38565202G>T | CA405672389 | RYR1 | c.1278G>T c.1260G>T c.12868G>T (p.Ala4290Ser) c.12853G>T (p.Ala4285Ser) c.12850G>T (p.Ala4284Ser) c.6237G>T c.12835G>T (p.Ala4279Ser) c.12865G>T (p.Ala4289Ser) | dbSNP |
19 | g.38565202_38565214delinsGCGGCGGGGGCGA | CA2335084729 | RYR1 | c.1278_1290delinsGCGGCGGGGGCGA c.1260_1272delinsGCGGCGGGGGCGA c.12868_12880delinsGCGGCGGGGGCGA (p.Ala4290=) c.12853_12865delinsGCGGCGGGGGCGA (p.Ala4285=) c.12850_12862delinsGCGGCGGGGGCGA (p.Ala4284=) c.6237_6249delinsGCGGCGGGGGCGA c.12835_12847delinsGCGGCGGGGGCGA (p.Ala4279=) c.12865_12877delinsGCGGCGGGGGCGA (p.Ala4289=) | |
19 | g.38565203C>A | CA405672391 | RYR1 | c.1279C>A c.1261C>A c.12869C>A (p.Ala4290Glu) c.12854C>A (p.Ala4285Glu) c.12851C>A (p.Ala4284Glu) c.6238C>A c.12836C>A (p.Ala4279Glu) c.12866C>A (p.Ala4289Glu) | |
19 | g.38565203C= | CA2335084730 | RYR1 | c.1279C= c.1261C= c.12869C= (p.Ala4290=) c.12854C= (p.Ala4285=) c.12851C= (p.Ala4284=) c.6238C= c.12836C= (p.Ala4279=) c.12866C= (p.Ala4289=) | |
19 | g.38565203C>G | CA405672392 | RYR1 | c.1279C>G c.1261C>G c.12869C>G (p.Ala4290Gly) c.12854C>G (p.Ala4285Gly) c.12851C>G (p.Ala4284Gly) c.6238C>G c.12836C>G (p.Ala4279Gly) c.12866C>G (p.Ala4289Gly) | gnomAD v4 |
19 | g.38565203C>T | CA059496 | RYR1 | c.1279C>T c.1261C>T c.12869C>T (p.Ala4290Val) c.12854C>T (p.Ala4285Val) c.12851C>T (p.Ala4284Val) c.6238C>T c.12836C>T (p.Ala4279Val) c.12866C>T (p.Ala4289Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565203_38565204insCAC | CA2573332874 | RYR1 | c.1279_1280insCAC c.1261_1262insCAC c.12869_12870insCAC (p.Ala4290_Ala4291insThr) c.12854_12855insCAC (p.Ala4285_Ala4286insThr) c.12851_12852insCAC (p.Ala4284_Ala4285insThr) c.6238_6239insCAC c.12836_12837insCAC (p.Ala4279_Ala4280insThr) c.12866_12867insCAC (p.Ala4289_Ala4290insThr) | gnomAD v4 |
19 | g.38565208_38565219dup | CA995731518 | RYR1 | c.1284_1295dup c.1266_1277dup c.12874_12885dup (p.Ala4295_Arg4296insGlyAlaThrAla) c.12859_12870dup (p.Ala4290_Arg4291insGlyAlaThrAla) c.12856_12867dup (p.Ala4289_Arg4290insGlyAlaThrAla) c.6243_6254dup c.12841_12852dup (p.Ala4284_Arg4285insGlyAlaThrAla) c.12871_12882dup (p.Ala4294_Arg4295insGlyAlaThrAla) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565208_38565219del | CA882058575 | RYR1 | c.1284_1295del c.1266_1277del c.12874_12885del (p.Gly4292_Ala4295del) c.12859_12870del (p.Gly4287_Ala4290del) c.12856_12867del (p.Gly4286_Ala4289del) c.6243_6254del c.12841_12852del (p.Gly4281_Ala4284del) c.12871_12882del (p.Gly4291_Ala4294del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565204G>A | CA308109310 | RYR1 | c.1280G>A c.1262G>A c.12870G>A (p.Ala4290=) c.12855G>A (p.Ala4285=) c.12852G>A (p.Ala4284=) c.6239G>A c.12837G>A (p.Ala4279=) c.12867G>A (p.Ala4289=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565204G>C | CA507355491 | RYR1 | c.1280G>C c.1262G>C c.12870G>C (p.Ala4290=) c.12855G>C (p.Ala4285=) c.12852G>C (p.Ala4284=) c.6239G>C c.12837G>C (p.Ala4279=) c.12867G>C (p.Ala4289=) | gnomAD v3 gnomAD v4 |
19 | g.38565204G= | CA2335084731 | RYR1 | c.1280G= c.1262G= c.12870G= (p.Ala4290=) c.12855G= (p.Ala4285=) c.12852G= (p.Ala4284=) c.6239G= c.12837G= (p.Ala4279=) c.12867G= (p.Ala4289=) | |
19 | g.38565204G>T | CA507355492 | RYR1 | c.1280G>T c.1262G>T c.12870G>T (p.Ala4290=) c.12855G>T (p.Ala4285=) c.12852G>T (p.Ala4284=) c.6239G>T c.12837G>T (p.Ala4279=) c.12867G>T (p.Ala4289=) | dbSNP gnomAD v4 |
19 | g.38565206_38565209del | CA2576772099 | RYR1 | c.1282_1285del c.1264_1267del c.12872_12875del (p.Ala4291GlyfsTer?) c.12857_12860del (p.Ala4286GlyfsTer?) c.12854_12857del (p.Ala4285GlyfsTer?) c.6241_6244del c.12839_12842del (p.Ala4280GlyfsTer?) c.12869_12872del (p.Ala4290GlyfsTer?) | |
19 | g.38565208_38565213dup | CA2573156318 | RYR1 | c.1284_1289dup c.1266_1271dup c.12874_12879dup (p.Ala4293_Thr4294insGlyAla) c.12859_12864dup (p.Ala4288_Thr4289insGlyAla) c.12856_12861dup (p.Ala4287_Thr4288insGlyAla) c.6243_6248dup c.12841_12846dup (p.Ala4282_Thr4283insGlyAla) c.12871_12876dup (p.Ala4292_Thr4293insGlyAla) | ClinVar dbSNP |
19 | g.38565205G>A | CA405672396 | RYR1 | c.1281G>A c.1263G>A c.12871G>A (p.Ala4291Thr) c.12856G>A (p.Ala4286Thr) c.12853G>A (p.Ala4285Thr) c.6240G>A c.12838G>A (p.Ala4280Thr) c.12868G>A (p.Ala4290Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565205G>C | CA405672399 | RYR1 | c.1281G>C c.1263G>C c.12871G>C (p.Ala4291Pro) c.12856G>C (p.Ala4286Pro) c.12853G>C (p.Ala4285Pro) c.6240G>C c.12838G>C (p.Ala4280Pro) c.12868G>C (p.Ala4290Pro) | |
19 | g.38565205G>T | CA405672400 | RYR1 | c.1281G>T c.1263G>T c.12871G>T (p.Ala4291Ser) c.12856G>T (p.Ala4286Ser) c.12853G>T (p.Ala4285Ser) c.6240G>T c.12838G>T (p.Ala4280Ser) c.12868G>T (p.Ala4290Ser) | gnomAD v4 |
19 | g.38565206C>A | CA405672407 | RYR1 | c.1282C>A c.1264C>A c.12872C>A (p.Ala4291Glu) c.12857C>A (p.Ala4286Glu) c.12854C>A (p.Ala4285Glu) c.6241C>A c.12839C>A (p.Ala4280Glu) c.12869C>A (p.Ala4290Glu) | gnomAD v4 |
19 | g.38565206C>G | CA405672403 | RYR1 | c.1282C>G c.1264C>G c.12872C>G (p.Ala4291Gly) c.12857C>G (p.Ala4286Gly) c.12854C>G (p.Ala4285Gly) c.6241C>G c.12839C>G (p.Ala4280Gly) c.12869C>G (p.Ala4290Gly) | gnomAD v4 |
19 | g.38565206C>T | CA080773 | RYR1 | c.1282C>T c.1264C>T c.12872C>T (p.Ala4291Val) c.12857C>T (p.Ala4286Val) c.12854C>T (p.Ala4285Val) c.6241C>T c.12839C>T (p.Ala4280Val) c.12869C>T (p.Ala4290Val) | gnomAD v4 |
19 | g.38565206_38565207delinsCG | CA2335084732 | RYR1 | c.1282_1283delinsCG c.1264_1265delinsCG c.12872_12873delinsCG (p.Ala4291=) c.12857_12858delinsCG (p.Ala4286=) c.12854_12855delinsCG (p.Ala4285=) c.6241_6242delinsCG c.12839_12840delinsCG (p.Ala4280=) c.12869_12870delinsCG (p.Ala4290=) | |
19 | g.38565207G>A | CA507355497 | RYR1 | c.1283G>A c.1265G>A c.12873G>A (p.Ala4291=) c.12858G>A (p.Ala4286=) c.12855G>A (p.Ala4285=) c.6242G>A c.12840G>A (p.Ala4280=) c.12870G>A (p.Ala4290=) | ClinVar |
19 | g.38565207G>C | CA507355499 | RYR1 | c.1283G>C c.1265G>C c.12873G>C (p.Ala4291=) c.12858G>C (p.Ala4286=) c.12855G>C (p.Ala4285=) c.6242G>C c.12840G>C (p.Ala4280=) c.12870G>C (p.Ala4290=) | |
19 | g.38565207G= | CA2335084734 | RYR1 | c.1283G= c.1265G= c.12873G= (p.Ala4291=) c.12858G= (p.Ala4286=) c.12855G= (p.Ala4285=) c.6242G= c.12840G= (p.Ala4280=) c.12870G= (p.Ala4290=) | |
19 | g.38565207G>T | CA507355494 | RYR1 | c.1283G>T c.1265G>T c.12873G>T (p.Ala4291=) c.12858G>T (p.Ala4286=) c.12855G>T (p.Ala4285=) c.6242G>T c.12840G>T (p.Ala4280=) c.12870G>T (p.Ala4290=) | dbSNP gnomAD v4 |
19 | g.38565211dup | CA2584909128 | RYR1 | c.1287dup c.1269dup c.12877dup (p.Ala4293GlyfsTer?) c.12862dup (p.Ala4288GlyfsTer?) c.12859dup (p.Ala4287GlyfsTer?) c.6246dup c.12844dup (p.Ala4282GlyfsTer?) c.12874dup (p.Ala4292GlyfsTer?) | gnomAD v4 |
19 | g.38565211del | CA2335084733 | RYR1 | c.1287del c.1269del c.12877del (p.Ala4293ArgfsTer?) c.12862del (p.Ala4288ArgfsTer?) c.12859del (p.Ala4287ArgfsTer?) c.6246del c.12844del (p.Ala4282ArgfsTer?) c.12874del (p.Ala4292ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
19 | g.38565208G>A | CA405672408 | RYR1 | c.1284G>A c.1266G>A c.12874G>A (p.Gly4292Arg) c.12859G>A (p.Gly4287Arg) c.12856G>A (p.Gly4286Arg) c.6243G>A c.12841G>A (p.Gly4281Arg) c.12871G>A (p.Gly4291Arg) | gnomAD v4 |
19 | g.38565208G>C | CA405672410 | RYR1 | c.1284G>C c.1266G>C c.12874G>C (p.Gly4292Arg) c.12859G>C (p.Gly4287Arg) c.12856G>C (p.Gly4286Arg) c.6243G>C c.12841G>C (p.Gly4281Arg) c.12871G>C (p.Gly4291Arg) | |
19 | g.38565208G= | CA2335084735 | RYR1 | c.1284G= c.1266G= c.12874G= (p.Gly4292=) c.12859G= (p.Gly4287=) c.12856G= (p.Gly4286=) c.6243G= c.12841G= (p.Gly4281=) c.12871G= (p.Gly4291=) | |
19 | g.38565208G>T | CA405672411 | RYR1 | c.1284G>T c.1266G>T c.12874G>T (p.Gly4292Trp) c.12859G>T (p.Gly4287Trp) c.12856G>T (p.Gly4286Trp) c.6243G>T c.12841G>T (p.Gly4281Trp) c.12871G>T (p.Gly4291Trp) | |
19 | g.38565209G>A | CA405672413 | RYR1 | c.1285G>A c.1267G>A c.12875G>A (p.Gly4292Glu) c.12860G>A (p.Gly4287Glu) c.12857G>A (p.Gly4286Glu) c.6244G>A c.12842G>A (p.Gly4281Glu) c.12872G>A (p.Gly4291Glu) | dbSNP |
19 | g.38565209G>C | CA405672416 | RYR1 | c.1285G>C c.1267G>C c.12875G>C (p.Gly4292Ala) c.12860G>C (p.Gly4287Ala) c.12857G>C (p.Gly4286Ala) c.6244G>C c.12842G>C (p.Gly4281Ala) c.12872G>C (p.Gly4291Ala) | gnomAD v4 |
19 | g.38565209G= | CA2335084737 | RYR1 | c.1285G= c.1267G= c.12875G= (p.Gly4292=) c.12860G= (p.Gly4287=) c.12857G= (p.Gly4286=) c.6244G= c.12842G= (p.Gly4281=) c.12872G= (p.Gly4291=) | |
19 | g.38565209G>T | CA405672418 | RYR1 | c.1285G>T c.1267G>T c.12875G>T (p.Gly4292Val) c.12860G>T (p.Gly4287Val) c.12857G>T (p.Gly4286Val) c.6244G>T c.12842G>T (p.Gly4281Val) c.12872G>T (p.Gly4291Val) | gnomAD v4 |
19 | g.38565212_38565223dup | CA2335084736 | RYR1 | c.1288_1299dup c.1270_1281dup c.12878_12889dup (p.Arg4296_Val4297insAlaThrAlaArg) c.12863_12874dup (p.Arg4291_Val4292insAlaThrAlaArg) c.12860_12871dup (p.Arg4290_Val4291insAlaThrAlaArg) c.6247_6258dup c.12845_12856dup (p.Arg4285_Val4286insAlaThrAlaArg) c.12875_12886dup (p.Arg4295_Val4296insAlaThrAlaArg) | dbSNP gnomAD v4 |
19 | g.38565210G>A | CA507355503 | RYR1 | c.1286G>A c.1268G>A c.12876G>A (p.Gly4292=) c.12861G>A (p.Gly4287=) c.12858G>A (p.Gly4286=) c.6245G>A c.12843G>A (p.Gly4281=) c.12873G>A (p.Gly4291=) | |
19 | g.38565210G>C | CA507355501 | RYR1 | c.1286G>C c.1268G>C c.12876G>C (p.Gly4292=) c.12861G>C (p.Gly4287=) c.12858G>C (p.Gly4286=) c.6245G>C c.12843G>C (p.Gly4281=) c.12873G>C (p.Gly4291=) | ClinVar dbSNP |
19 | g.38565210G= | CA2335084738 | RYR1 | c.1286G= c.1268G= c.12876G= (p.Gly4292=) c.12861G= (p.Gly4287=) c.12858G= (p.Gly4286=) c.6245G= c.12843G= (p.Gly4281=) c.12873G= (p.Gly4291=) | |
19 | g.38565210G>T | CA507355502 | RYR1 | c.1286G>T c.1268G>T c.12876G>T (p.Gly4292=) c.12861G>T (p.Gly4287=) c.12858G>T (p.Gly4286=) c.6245G>T c.12843G>T (p.Gly4281=) c.12873G>T (p.Gly4291=) | gnomAD v4 |
19 | g.38565211G>A | CA405672421 | RYR1 | c.1287G>A c.1269G>A c.12877G>A (p.Ala4293Thr) c.12862G>A (p.Ala4288Thr) c.12859G>A (p.Ala4287Thr) c.6246G>A c.12844G>A (p.Ala4282Thr) c.12874G>A (p.Ala4292Thr) | gnomAD v4 |
19 | g.38565211G>C | CA405672423 | RYR1 | c.1287G>C c.1269G>C c.12877G>C (p.Ala4293Pro) c.12862G>C (p.Ala4288Pro) c.12859G>C (p.Ala4287Pro) c.6246G>C c.12844G>C (p.Ala4282Pro) c.12874G>C (p.Ala4292Pro) | |
19 | g.38565211G>T | CA405672424 | RYR1 | c.1287G>T c.1269G>T c.12877G>T (p.Ala4293Ser) c.12862G>T (p.Ala4288Ser) c.12859G>T (p.Ala4287Ser) c.6246G>T c.12844G>T (p.Ala4282Ser) c.12874G>T (p.Ala4292Ser) | gnomAD v4 |
19 | g.38565212C>A | CA405672427 | RYR1 | c.1288C>A c.1270C>A c.12878C>A (p.Ala4293Glu) c.12863C>A (p.Ala4288Glu) c.12860C>A (p.Ala4287Glu) c.6247C>A c.12845C>A (p.Ala4282Glu) c.12875C>A (p.Ala4292Glu) | ClinVar dbSNP gnomAD v4 |
19 | g.38565212C= | CA2335084739 | RYR1 | c.1288C= c.1270C= c.12878C= (p.Ala4293=) c.12863C= (p.Ala4288=) c.12860C= (p.Ala4287=) c.6247C= c.12845C= (p.Ala4282=) c.12875C= (p.Ala4292=) | |
19 | g.38565212C>G | CA405672430 | RYR1 | c.1288C>G c.1270C>G c.12878C>G (p.Ala4293Gly) c.12863C>G (p.Ala4288Gly) c.12860C>G (p.Ala4287Gly) c.6247C>G c.12845C>G (p.Ala4282Gly) c.12875C>G (p.Ala4292Gly) | |
19 | g.38565212C>T | CA405672432 | RYR1 | c.1288C>T c.1270C>T c.12878C>T (p.Ala4293Val) c.12863C>T (p.Ala4288Val) c.12860C>T (p.Ala4287Val) c.6247C>T c.12845C>T (p.Ala4282Val) c.12875C>T (p.Ala4292Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565213G>A | CA507355504 | RYR1 | c.1289G>A c.1271G>A c.12879G>A (p.Ala4293=) c.12864G>A (p.Ala4288=) c.12861G>A (p.Ala4287=) c.6248G>A c.12846G>A (p.Ala4282=) c.12876G>A (p.Ala4292=) | gnomAD v4 |
19 | g.38565213G>C | CA024015 | RYR1 | c.1289G>C c.1271G>C c.12879G>C (p.Ala4293=) c.12864G>C (p.Ala4288=) c.12861G>C (p.Ala4287=) c.6248G>C c.12846G>C (p.Ala4282=) c.12876G>C (p.Ala4292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565213G= | CA2335084740 | RYR1 | c.1289G= c.1271G= c.12879G= (p.Ala4293=) c.12864G= (p.Ala4288=) c.12861G= (p.Ala4287=) c.6248G= c.12846G= (p.Ala4282=) c.12876G= (p.Ala4292=) | |
19 | g.38565213G>T | CA507355505 | RYR1 | c.1289G>T c.1271G>T c.12879G>T (p.Ala4293=) c.12864G>T (p.Ala4288=) c.12861G>T (p.Ala4287=) c.6248G>T c.12846G>T (p.Ala4282=) c.12876G>T (p.Ala4292=) | |
19 | g.38565214A= | CA2335084741 | RYR1 | c.1290A= c.1272A= c.12880A= (p.Thr4294=) c.12865A= (p.Thr4289=) c.12862A= (p.Thr4288=) c.6249A= c.12847A= (p.Thr4283=) c.12877A= (p.Thr4293=) | |
19 | g.38565214A>C | CA405672433 | RYR1 | c.1290A>C c.1272A>C c.12880A>C (p.Thr4294Pro) c.12865A>C (p.Thr4289Pro) c.12862A>C (p.Thr4288Pro) c.6249A>C c.12847A>C (p.Thr4283Pro) c.12877A>C (p.Thr4293Pro) | |
19 | g.38565214A>G | CA308109322 | RYR1 | c.1290A>G c.1272A>G c.12880A>G (p.Thr4294Ala) c.12865A>G (p.Thr4289Ala) c.12862A>G (p.Thr4288Ala) c.6249A>G c.12847A>G (p.Thr4283Ala) c.12877A>G (p.Thr4293Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565214A>T | CA405672434 | RYR1 | c.1290A>T c.1272A>T c.12880A>T (p.Thr4294Ser) c.12865A>T (p.Thr4289Ser) c.12862A>T (p.Thr4288Ser) c.6249A>T c.12847A>T (p.Thr4283Ser) c.12877A>T (p.Thr4293Ser) | |
19 | g.38565215C>A | CA405672435 | RYR1 | c.1291C>A c.1273C>A c.12881C>A (p.Thr4294Lys) c.12866C>A (p.Thr4289Lys) c.12863C>A (p.Thr4288Lys) c.6250C>A c.12848C>A (p.Thr4283Lys) c.12878C>A (p.Thr4293Lys) | dbSNP |
19 | g.38565215C= | CA2335084742 | RYR1 | c.1291C= c.1273C= c.12881C= (p.Thr4294=) c.12866C= (p.Thr4289=) c.12863C= (p.Thr4288=) c.6250C= c.12848C= (p.Thr4283=) c.12878C= (p.Thr4293=) | |
19 | g.38565215C>G | CA405672436 | RYR1 | c.1291C>G c.1273C>G c.12881C>G (p.Thr4294Arg) c.12866C>G (p.Thr4289Arg) c.12863C>G (p.Thr4288Arg) c.6250C>G c.12848C>G (p.Thr4283Arg) c.12878C>G (p.Thr4293Arg) | |
19 | g.38565215C>T | CA024017 | RYR1 | c.1291C>T c.1273C>T c.12881C>T (p.Thr4294Met) c.12866C>T (p.Thr4289Met) c.12863C>T (p.Thr4288Met) c.6250C>T c.12848C>T (p.Thr4283Met) c.12878C>T (p.Thr4293Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565216_38565217insCCG | CA920105907 | RYR1 | c.1292_1293insCCG c.1274_1275insCCG c.12882_12883insCCG (p.Thr4294_Ala4295insPro) c.12867_12868insCCG (p.Thr4289_Ala4290insPro) c.12864_12865insCCG (p.Thr4288_Ala4289insPro) c.6251_6252insCCG c.12849_12850insCCG (p.Thr4283_Ala4284insPro) c.12879_12880insCCG (p.Thr4293_Ala4294insPro) | dbSNP |
19 | g.38565216G>A | CA507355508 | RYR1 | c.1292G>A c.1274G>A c.12882G>A (p.Thr4294=) c.12867G>A (p.Thr4289=) c.12864G>A (p.Thr4288=) c.6251G>A c.12849G>A (p.Thr4283=) c.12879G>A (p.Thr4293=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565216G>C | CA080774 | RYR1 | c.1292G>C c.1274G>C c.12882G>C (p.Thr4294=) c.12867G>C (p.Thr4289=) c.12864G>C (p.Thr4288=) c.6251G>C c.12849G>C (p.Thr4283=) c.12879G>C (p.Thr4293=) | |
19 | g.38565216G= | CA2335084743 | RYR1 | c.1292G= c.1274G= c.12882G= (p.Thr4294=) c.12867G= (p.Thr4289=) c.12864G= (p.Thr4288=) c.6251G= c.12849G= (p.Thr4283=) c.12879G= (p.Thr4293=) | |
19 | g.38565216G>T | CA507355509 | RYR1 | c.1292G>T c.1274G>T c.12882G>T (p.Thr4294=) c.12867G>T (p.Thr4289=) c.12864G>T (p.Thr4288=) c.6251G>T c.12849G>T (p.Thr4283=) c.12879G>T (p.Thr4293=) | |
19 | g.38565217G>A | CA405672437 | RYR1 | c.1293G>A c.1275G>A c.12883G>A (p.Ala4295Thr) c.12868G>A (p.Ala4290Thr) c.12865G>A (p.Ala4289Thr) c.6252G>A c.12850G>A (p.Ala4284Thr) c.12880G>A (p.Ala4294Thr) | gnomAD v4 |
19 | g.38565217G>C | CA405672439 | RYR1 | c.1293G>C c.1275G>C c.12883G>C (p.Ala4295Pro) c.12868G>C (p.Ala4290Pro) c.12865G>C (p.Ala4289Pro) c.6252G>C c.12850G>C (p.Ala4284Pro) c.12880G>C (p.Ala4294Pro) | |
19 | g.38565217G>T | CA405672442 | RYR1 | c.1293G>T c.1275G>T c.12883G>T (p.Ala4295Ser) c.12868G>T (p.Ala4290Ser) c.12865G>T (p.Ala4289Ser) c.6252G>T c.12850G>T (p.Ala4284Ser) c.12880G>T (p.Ala4294Ser) | |
19 | g.38565218C>A | CA405672443 | RYR1 | c.1294C>A c.1276C>A c.12884C>A (p.Ala4295Glu) c.12869C>A (p.Ala4290Glu) c.12866C>A (p.Ala4289Glu) c.6253C>A c.12851C>A (p.Ala4284Glu) c.12881C>A (p.Ala4294Glu) | |
19 | g.38565218C= | CA2335084744 | RYR1 | c.1294C= c.1276C= c.12884C= (p.Ala4295=) c.12869C= (p.Ala4290=) c.12866C= (p.Ala4289=) c.6253C= c.12851C= (p.Ala4284=) c.12881C= (p.Ala4294=) | |
19 | g.38565218C>G | CA405672445 | RYR1 | c.1294C>G c.1276C>G c.12884C>G (p.Ala4295Gly) c.12869C>G (p.Ala4290Gly) c.12866C>G (p.Ala4289Gly) c.6253C>G c.12851C>G (p.Ala4284Gly) c.12881C>G (p.Ala4294Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565218C>T | CA024018 | RYR1 | c.1294C>T c.1276C>T c.12884C>T (p.Ala4295Val) c.12869C>T (p.Ala4290Val) c.12866C>T (p.Ala4289Val) c.6253C>T c.12851C>T (p.Ala4284Val) c.12881C>T (p.Ala4294Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565219G>A | CA507355513 | RYR1 | c.1295G>A c.1277G>A c.12885G>A (p.Ala4295=) c.12870G>A (p.Ala4290=) c.12867G>A (p.Ala4289=) c.6254G>A c.12852G>A (p.Ala4284=) c.12882G>A (p.Ala4294=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565219G>C | CA507355514 | RYR1 | c.1295G>C c.1277G>C c.12885G>C (p.Ala4295=) c.12870G>C (p.Ala4290=) c.12867G>C (p.Ala4289=) c.6254G>C c.12852G>C (p.Ala4284=) c.12882G>C (p.Ala4294=) | |
19 | g.38565219G= | CA2335084745 | RYR1 | c.1295G= c.1277G= c.12885G= (p.Ala4295=) c.12870G= (p.Ala4290=) c.12867G= (p.Ala4289=) c.6254G= c.12852G= (p.Ala4284=) c.12882G= (p.Ala4294=) | |
19 | g.38565219G>T | CA507355515 | RYR1 | c.1295G>T c.1277G>T c.12885G>T (p.Ala4295=) c.12870G>T (p.Ala4290=) c.12867G>T (p.Ala4289=) c.6254G>T c.12852G>T (p.Ala4284=) c.12882G>T (p.Ala4294=) | gnomAD v4 |
19 | g.38565220C>A | CA507355517 | RYR1 | c.1296C>A c.1278C>A c.12886C>A (p.Arg4296=) c.12871C>A (p.Arg4291=) c.12868C>A (p.Arg4290=) c.6255C>A c.12853C>A (p.Arg4285=) c.12883C>A (p.Arg4295=) | gnomAD v4 |
19 | g.38565220C= | CA2335084746 | RYR1 | c.1296C= c.1278C= c.12886C= (p.Arg4296=) c.12871C= (p.Arg4291=) c.12868C= (p.Arg4290=) c.6255C= c.12853C= (p.Arg4285=) c.12883C= (p.Arg4295=) | |
19 | g.38565220C>G | CA405672449 | RYR1 | c.1296C>G c.1278C>G c.12886C>G (p.Arg4296Gly) c.12871C>G (p.Arg4291Gly) c.12868C>G (p.Arg4290Gly) c.6255C>G c.12853C>G (p.Arg4285Gly) c.12883C>G (p.Arg4295Gly) | gnomAD v4 |
19 | g.38565220C>T | CA308109332 | RYR1 | c.1296C>T c.1278C>T c.12886C>T (p.Arg4296Trp) c.12871C>T (p.Arg4291Trp) c.12868C>T (p.Arg4290Trp) c.6255C>T c.12853C>T (p.Arg4285Trp) c.12883C>T (p.Arg4295Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565224_38565244del | CA2580097181 | RYR1 | c.1300_1320del c.1282_1302del c.12890_12910del (p.Val4297_Arg4303del) c.12875_12895del (p.Val4292_Arg4298del) c.12872_12892del (p.Val4291_Arg4297del) c.12857_12877del (p.Val4286_Arg4292del) c.12887_12907del (p.Val4296_Arg4302del) | ClinVar gnomAD v4 |
19 | g.38565221G>A | CA405672455 | RYR1 | c.1297G>A c.1279G>A c.12887G>A (p.Arg4296Gln) c.12872G>A (p.Arg4291Gln) c.12869G>A (p.Arg4290Gln) c.6256G>A c.12854G>A (p.Arg4285Gln) c.12884G>A (p.Arg4295Gln) | dbSNP |
19 | g.38565221G>C | CA405672454 | RYR1 | c.1297G>C c.1279G>C c.12887G>C (p.Arg4296Pro) c.12872G>C (p.Arg4291Pro) c.12869G>C (p.Arg4290Pro) c.6256G>C c.12854G>C (p.Arg4285Pro) c.12884G>C (p.Arg4295Pro) | ClinVar gnomAD v4 |
19 | g.38565221G= | CA2335084747 | RYR1 | c.1297G= c.1279G= c.12887G= (p.Arg4296=) c.12872G= (p.Arg4291=) c.12869G= (p.Arg4290=) c.6256G= c.12854G= (p.Arg4285=) c.12884G= (p.Arg4295=) | |
19 | g.38565221G>T | CA405672452 | RYR1 | c.1297G>T c.1279G>T c.12887G>T (p.Arg4296Leu) c.12872G>T (p.Arg4291Leu) c.12869G>T (p.Arg4290Leu) c.6256G>T c.12854G>T (p.Arg4285Leu) c.12884G>T (p.Arg4295Leu) | dbSNP gnomAD v4 |
19 | g.38565222G>A | CA507355519 | RYR1 | c.1298G>A c.1280G>A c.12888G>A (p.Arg4296=) c.12873G>A (p.Arg4291=) c.12870G>A (p.Arg4290=) c.6257G>A c.12855G>A (p.Arg4285=) c.12885G>A (p.Arg4295=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565222G>C | CA10648658 | RYR1 | c.1298G>C c.1280G>C c.12888G>C (p.Arg4296=) c.12873G>C (p.Arg4291=) c.12870G>C (p.Arg4290=) c.6257G>C c.12855G>C (p.Arg4285=) c.12885G>C (p.Arg4295=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565222G= | CA2335084748 | RYR1 | c.1298G= c.1280G= c.12888G= (p.Arg4296=) c.12873G= (p.Arg4291=) c.12870G= (p.Arg4290=) c.6257G= c.12855G= (p.Arg4285=) c.12885G= (p.Arg4295=) | |
19 | g.38565222G>T | CA507355522 | RYR1 | c.1298G>T c.1280G>T c.12888G>T (p.Arg4296=) c.12873G>T (p.Arg4291=) c.12870G>T (p.Arg4290=) c.6257G>T c.12855G>T (p.Arg4285=) c.12885G>T (p.Arg4295=) | gnomAD v4 |
19 | g.38565223G>A | CA405672458 | RYR1 | c.1299G>A c.1281G>A c.12889G>A (p.Val4297Ile) c.12874G>A (p.Val4292Ile) c.12871G>A (p.Val4291Ile) c.6258G>A c.12856G>A (p.Val4286Ile) c.12886G>A (p.Val4296Ile) | gnomAD v4 |
19 | g.38565223G>C | CA405672459 | RYR1 | c.1299G>C c.1281G>C c.12889G>C (p.Val4297Leu) c.12874G>C (p.Val4292Leu) c.12871G>C (p.Val4291Leu) c.6258G>C c.12856G>C (p.Val4286Leu) c.12886G>C (p.Val4296Leu) | ClinVar dbSNP gnomAD v4 |
19 | g.38565223G= | CA2335084749 | RYR1 | c.1299G= c.1281G= c.12889G= (p.Val4297=) c.12874G= (p.Val4292=) c.12871G= (p.Val4291=) c.6258G= c.12856G= (p.Val4286=) c.12886G= (p.Val4296=) | |
19 | g.38565223G>T | CA405672460 | RYR1 | c.1299G>T c.1281G>T c.12889G>T (p.Val4297Phe) c.12874G>T (p.Val4292Phe) c.12871G>T (p.Val4291Phe) c.6258G>T c.12856G>T (p.Val4286Phe) c.12886G>T (p.Val4296Phe) | |
19 | g.38565224T>A | CA405672462 | RYR1 | c.1300T>A c.1282T>A c.12890T>A (p.Val4297Asp) c.12875T>A (p.Val4292Asp) c.12872T>A (p.Val4291Asp) c.6259T>A c.12857T>A (p.Val4286Asp) c.12887T>A (p.Val4296Asp) | |
19 | g.38565224T>C | CA405672466 | RYR1 | c.1300T>C c.1282T>C c.12890T>C (p.Val4297Ala) c.12875T>C (p.Val4292Ala) c.12872T>C (p.Val4291Ala) c.6259T>C c.12857T>C (p.Val4286Ala) c.12887T>C (p.Val4296Ala) | gnomAD v4 |
19 | g.38565224T>G | CA405672468 | RYR1 | c.1300T>G c.1282T>G c.12890T>G (p.Val4297Gly) c.12875T>G (p.Val4292Gly) c.12872T>G (p.Val4291Gly) c.6259T>G c.12857T>G (p.Val4286Gly) c.12887T>G (p.Val4296Gly) | dbSNP |
19 | g.38565225T>A | CA507355524 | RYR1 | c.1301T>A c.1283T>A c.12891T>A (p.Val4297=) c.12876T>A (p.Val4292=) c.12873T>A (p.Val4291=) c.6260T>A c.12858T>A (p.Val4286=) c.12888T>A (p.Val4296=) | |
19 | g.38565225T>C | CA507355527 | RYR1 | c.1301T>C c.1283T>C c.12891T>C (p.Val4297=) c.12876T>C (p.Val4292=) c.12873T>C (p.Val4291=) c.6260T>C c.12858T>C (p.Val4286=) c.12888T>C (p.Val4296=) | gnomAD v4 |
19 | g.38565225T>G | CA507355529 | RYR1 | c.1301T>G c.1283T>G c.12891T>G (p.Val4297=) c.12876T>G (p.Val4292=) c.12873T>G (p.Val4291=) c.6260T>G c.12858T>G (p.Val4286=) c.12888T>G (p.Val4296=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565225_38565242del | CA2584909129 | RYR1 | c.1301_1318del c.1283_1300del c.12891_12908del (p.Val4298_Arg4303del) c.12876_12893del (p.Val4293_Arg4298del) c.12873_12890del (p.Val4292_Arg4297del) c.12858_12875del (p.Val4287_Arg4292del) c.12888_12905del (p.Val4297_Arg4302del) | gnomAD v4 |
19 | g.38565226G>A | CA405672469 | RYR1 | c.1302G>A c.1284G>A c.12892G>A (p.Val4298Met) c.12877G>A (p.Val4293Met) c.12874G>A (p.Val4292Met) c.6261G>A c.12859G>A (p.Val4287Met) c.12889G>A (p.Val4297Met) | dbSNP |
19 | g.38565226G>C | CA405672470 | RYR1 | c.1302G>C c.1284G>C c.12892G>C (p.Val4298Leu) c.12877G>C (p.Val4293Leu) c.12874G>C (p.Val4292Leu) c.6261G>C c.12859G>C (p.Val4287Leu) c.12889G>C (p.Val4297Leu) | |
19 | g.38565226G= | CA2335084750 | RYR1 | c.1302G= c.1284G= c.12892G= (p.Val4298=) c.12877G= (p.Val4293=) c.12874G= (p.Val4292=) c.6261G= c.12859G= (p.Val4287=) c.12889G= (p.Val4297=) | |
19 | g.38565226G>T | CA405672473 | RYR1 | c.1302G>T c.1284G>T c.12892G>T (p.Val4298Leu) c.12877G>T (p.Val4293Leu) c.12874G>T (p.Val4292Leu) c.6261G>T c.12859G>T (p.Val4287Leu) c.12889G>T (p.Val4297Leu) | ClinVar gnomAD v4 |
19 | g.38565227T>A | CA405672474 | RYR1 | c.1303T>A c.1285T>A c.12893T>A (p.Val4298Glu) c.12878T>A (p.Val4293Glu) c.12875T>A (p.Val4292Glu) c.6262T>A c.12860T>A (p.Val4287Glu) c.12890T>A (p.Val4297Glu) | |
19 | g.38565227T>C | CA405672476 | RYR1 | c.1303T>C c.1285T>C c.12893T>C (p.Val4298Ala) c.12878T>C (p.Val4293Ala) c.12875T>C (p.Val4292Ala) c.6262T>C c.12860T>C (p.Val4287Ala) c.12890T>C (p.Val4297Ala) | gnomAD v4 |
19 | g.38565227T>G | CA405672478 | RYR1 | c.1303T>G c.1285T>G c.12893T>G (p.Val4298Gly) c.12878T>G (p.Val4293Gly) c.12875T>G (p.Val4292Gly) c.6262T>G c.12860T>G (p.Val4287Gly) c.12890T>G (p.Val4297Gly) | |
19 | g.38565227dup | CA2335084751 | RYR1 | c.1303dup c.1285dup c.12893dup (p.Ala4299GlyfsTer?) c.12878dup (p.Ala4294GlyfsTer?) c.12875dup (p.Ala4293GlyfsTer?) c.6262dup c.12860dup (p.Ala4288GlyfsTer?) c.12890dup (p.Ala4298GlyfsTer?) | dbSNP |
19 | g.38565228G>A | CA507355536 | RYR1 | c.1304G>A c.1286G>A c.12894G>A (p.Val4298=) c.12879G>A (p.Val4293=) c.12876G>A (p.Val4292=) c.6263G>A c.12861G>A (p.Val4287=) c.12891G>A (p.Val4297=) | |
19 | g.38565228G>C | CA507355537 | RYR1 | c.1304G>C c.1286G>C c.12894G>C (p.Val4298=) c.12879G>C (p.Val4293=) c.12876G>C (p.Val4292=) c.6263G>C c.12861G>C (p.Val4287=) c.12891G>C (p.Val4297=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565228G= | CA2335084752 | RYR1 | c.1304G= c.1286G= c.12894G= (p.Val4298=) c.12879G= (p.Val4293=) c.12876G= (p.Val4292=) c.6263G= c.12861G= (p.Val4287=) c.12891G= (p.Val4297=) | |
19 | g.38565228G>T | CA507355538 | RYR1 | c.1304G>T c.1286G>T c.12894G>T (p.Val4298=) c.12879G>T (p.Val4293=) c.12876G>T (p.Val4292=) c.6263G>T c.12861G>T (p.Val4287=) c.12891G>T (p.Val4297=) | |
19 | g.38565229del | CA2584909130 | RYR1 | c.1305del c.1287del c.12895del (p.Ala4299ArgfsTer?) c.12880del (p.Ala4294ArgfsTer?) c.12877del (p.Ala4293ArgfsTer?) c.12862del (p.Ala4288ArgfsTer?) c.12892del (p.Ala4298ArgfsTer?) | gnomAD v4 |
19 | g.38565229G>A | CA405672485 | RYR1 | c.1305G>A c.1287G>A c.12895G>A (p.Ala4299Thr) c.12880G>A (p.Ala4294Thr) c.12877G>A (p.Ala4293Thr) c.12862G>A (p.Ala4288Thr) c.12892G>A (p.Ala4298Thr) | |
19 | g.38565229G>C | CA405672483 | RYR1 | c.1305G>C c.1287G>C c.12895G>C (p.Ala4299Pro) c.12880G>C (p.Ala4294Pro) c.12877G>C (p.Ala4293Pro) c.12862G>C (p.Ala4288Pro) c.12892G>C (p.Ala4298Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565229G= | CA2335084753 | RYR1 | c.1305G= c.1287G= c.12895G= (p.Ala4299=) c.12880G= (p.Ala4294=) c.12877G= (p.Ala4293=) c.12862G= (p.Ala4288=) c.12892G= (p.Ala4298=) | |
19 | g.38565229G>T | CA405672481 | RYR1 | c.1305G>T c.1287G>T c.12895G>T (p.Ala4299Ser) c.12880G>T (p.Ala4294Ser) c.12877G>T (p.Ala4293Ser) c.12862G>T (p.Ala4288Ser) c.12892G>T (p.Ala4298Ser) | gnomAD v4 |
19 | g.38565230C>A | CA405672491 | RYR1 | c.1306C>A c.1288C>A c.12896C>A (p.Ala4299Glu) c.12881C>A (p.Ala4294Glu) c.12878C>A (p.Ala4293Glu) c.12863C>A (p.Ala4288Glu) c.12893C>A (p.Ala4298Glu) | gnomAD v4 |
19 | g.38565230C= | CA2335084754 | RYR1 | c.1306C= c.1288C= c.12896C= (p.Ala4299=) c.12881C= (p.Ala4294=) c.12878C= (p.Ala4293=) c.12863C= (p.Ala4288=) c.12893C= (p.Ala4298=) | |
19 | g.38565230C>G | CA405672487 | RYR1 | c.1306C>G c.1288C>G c.12896C>G (p.Ala4299Gly) c.12881C>G (p.Ala4294Gly) c.12878C>G (p.Ala4293Gly) c.12863C>G (p.Ala4288Gly) c.12893C>G (p.Ala4298Gly) | |
19 | g.38565230C>T | CA405672488 | RYR1 | c.1306C>T c.1288C>T c.12896C>T (p.Ala4299Val) c.12881C>T (p.Ala4294Val) c.12878C>T (p.Ala4293Val) c.12863C>T (p.Ala4288Val) c.12893C>T (p.Ala4298Val) | dbSNP gnomAD v4 |
19 | g.38565231G>A | CA507355543 | RYR1 | c.1307G>A c.1289G>A c.12897G>A (p.Ala4299=) c.12882G>A (p.Ala4294=) c.12879G>A (p.Ala4293=) c.12864G>A (p.Ala4288=) c.12894G>A (p.Ala4298=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565231G>C | CA507355544 | RYR1 | c.1307G>C c.1289G>C c.12897G>C (p.Ala4299=) c.12882G>C (p.Ala4294=) c.12879G>C (p.Ala4293=) c.12864G>C (p.Ala4288=) c.12894G>C (p.Ala4298=) | |
19 | g.38565231G= | CA2335084755 | RYR1 | c.1307G= c.1289G= c.12897G= (p.Ala4299=) c.12882G= (p.Ala4294=) c.12879G= (p.Ala4293=) c.12864G= (p.Ala4288=) c.12894G= (p.Ala4298=) | |
19 | g.38565231G>T | CA507355545 | RYR1 | c.1307G>T c.1289G>T c.12897G>T (p.Ala4299=) c.12882G>T (p.Ala4294=) c.12879G>T (p.Ala4293=) c.12864G>T (p.Ala4288=) c.12894G>T (p.Ala4298=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565231_38565232insCC | CA2529490714 | RYR1 | c.1307_1308insCC c.1289_1290insCC c.12897_12898insCC (p.Ala4300ProfsTer?) c.12882_12883insCC (p.Ala4295ProfsTer?) c.12879_12880insCC (p.Ala4294ProfsTer?) c.12864_12865insCC (p.Ala4289ProfsTer?) c.12894_12895insCC (p.Ala4299ProfsTer?) | |
19 | g.38565232G>A | CA405672493 | RYR1 | c.1308G>A c.1290G>A c.12898G>A (p.Ala4300Thr) c.12883G>A (p.Ala4295Thr) c.12880G>A (p.Ala4294Thr) c.12865G>A (p.Ala4289Thr) c.12895G>A (p.Ala4299Thr) | gnomAD v4 |
19 | g.38565232G>C | CA405672496 | RYR1 | c.1308G>C c.1290G>C c.12898G>C (p.Ala4300Pro) c.12883G>C (p.Ala4295Pro) c.12880G>C (p.Ala4294Pro) c.12865G>C (p.Ala4289Pro) c.12895G>C (p.Ala4299Pro) | |
19 | g.38565232G>T | CA405672497 | RYR1 | c.1308G>T c.1290G>T c.12898G>T (p.Ala4300Ser) c.12883G>T (p.Ala4295Ser) c.12880G>T (p.Ala4294Ser) c.12865G>T (p.Ala4289Ser) c.12895G>T (p.Ala4299Ser) | |
19 | g.38565233C>A | CA405672504 | RYR1 | c.1309C>A c.1291C>A c.12899C>A (p.Ala4300Asp) c.12884C>A (p.Ala4295Asp) c.12881C>A (p.Ala4294Asp) c.12866C>A (p.Ala4289Asp) c.12896C>A (p.Ala4299Asp) | |
19 | g.38565233C= | CA2335084756 | RYR1 | c.1309C= c.1291C= c.12899C= (p.Ala4300=) c.12884C= (p.Ala4295=) c.12881C= (p.Ala4294=) c.12866C= (p.Ala4289=) c.12896C= (p.Ala4299=) | |
19 | g.38565233C>G | CA405672502 | RYR1 | c.1309C>G c.1291C>G c.12899C>G (p.Ala4300Gly) c.12884C>G (p.Ala4295Gly) c.12881C>G (p.Ala4294Gly) c.12866C>G (p.Ala4289Gly) c.12896C>G (p.Ala4299Gly) | dbSNP |
19 | g.38565233C>T | CA405672501 | RYR1 | c.1309C>T c.1291C>T c.12899C>T (p.Ala4300Val) c.12884C>T (p.Ala4295Val) c.12881C>T (p.Ala4294Val) c.12866C>T (p.Ala4289Val) c.12896C>T (p.Ala4299Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565234C>A | CA507355551 | RYR1 | c.1310C>A c.1292C>A c.12900C>A (p.Ala4300=) c.12885C>A (p.Ala4295=) c.12882C>A (p.Ala4294=) c.12867C>A (p.Ala4289=) c.12897C>A (p.Ala4299=) | |
19 | g.38565234C= | CA2335084757 | RYR1 | c.1310C= c.1292C= c.12900C= (p.Ala4300=) c.12885C= (p.Ala4295=) c.12882C= (p.Ala4294=) c.12867C= (p.Ala4289=) c.12897C= (p.Ala4299=) | |
19 | g.38565234C>G | CA507355552 | RYR1 | c.1310C>G c.1292C>G c.12900C>G (p.Ala4300=) c.12885C>G (p.Ala4295=) c.12882C>G (p.Ala4294=) c.12867C>G (p.Ala4289=) c.12897C>G (p.Ala4299=) | |
19 | g.38565234C>T | CA507355553 | RYR1 | c.1310C>T c.1292C>T c.12900C>T (p.Ala4300=) c.12885C>T (p.Ala4295=) c.12882C>T (p.Ala4294=) c.12867C>T (p.Ala4289=) c.12897C>T (p.Ala4299=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565235G>A | CA405672506 | RYR1 | c.1311G>A c.1293G>A c.12901G>A (p.Ala4301Thr) c.12886G>A (p.Ala4296Thr) c.12883G>A (p.Ala4295Thr) c.12868G>A (p.Ala4290Thr) c.12898G>A (p.Ala4300Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565235G>C | CA405672508 | RYR1 | c.1311G>C c.1293G>C c.12901G>C (p.Ala4301Pro) c.12886G>C (p.Ala4296Pro) c.12883G>C (p.Ala4295Pro) c.12868G>C (p.Ala4290Pro) c.12898G>C (p.Ala4300Pro) | gnomAD v4 |
19 | g.38565235G= | CA2335084758 | RYR1 | c.1311G= c.1293G= c.12901G= (p.Ala4301=) c.12886G= (p.Ala4296=) c.12883G= (p.Ala4295=) c.12868G= (p.Ala4290=) c.12898G= (p.Ala4300=) | |
19 | g.38565235G>T | CA405672509 | RYR1 | c.1311G>T c.1293G>T c.12901G>T (p.Ala4301Ser) c.12886G>T (p.Ala4296Ser) c.12883G>T (p.Ala4295Ser) c.12868G>T (p.Ala4290Ser) c.12898G>T (p.Ala4300Ser) | gnomAD v4 |
19 | g.38565236C>A | CA405672511 | RYR1 | c.1312C>A c.1294C>A c.12902C>A (p.Ala4301Glu) c.12887C>A (p.Ala4296Glu) c.12884C>A (p.Ala4295Glu) c.12869C>A (p.Ala4290Glu) c.12899C>A (p.Ala4300Glu) | gnomAD v4 |
19 | g.38565236C= | CA2335084759 | RYR1 | c.1312C= c.1294C= c.12902C= (p.Ala4301=) c.12887C= (p.Ala4296=) c.12884C= (p.Ala4295=) c.12869C= (p.Ala4290=) c.12899C= (p.Ala4300=) | |
19 | g.38565236C>G | CA405672514 | RYR1 | c.1312C>G c.1294C>G c.12902C>G (p.Ala4301Gly) c.12887C>G (p.Ala4296Gly) c.12884C>G (p.Ala4295Gly) c.12869C>G (p.Ala4290Gly) c.12899C>G (p.Ala4300Gly) | gnomAD v4 |
19 | g.38565236C>T | CA405672520 | RYR1 | c.1312C>T c.1294C>T c.12902C>T (p.Ala4301Val) c.12887C>T (p.Ala4296Val) c.12884C>T (p.Ala4295Val) c.12869C>T (p.Ala4290Val) c.12899C>T (p.Ala4300Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565237A>C | CA507355556 | RYR1 | c.1313A>C c.1295A>C c.12903A>C (p.Ala4301=) c.12888A>C (p.Ala4296=) c.12885A>C (p.Ala4295=) c.12870A>C (p.Ala4290=) c.12900A>C (p.Ala4300=) | |
19 | g.38565237A>G | CA507355557 | RYR1 | c.1313A>G c.1295A>G c.12903A>G (p.Ala4301=) c.12888A>G (p.Ala4296=) c.12885A>G (p.Ala4295=) c.12870A>G (p.Ala4290=) c.12900A>G (p.Ala4300=) | gnomAD v4 |
19 | g.38565237A>T | CA507355558 | RYR1 | c.1313A>T c.1295A>T c.12903A>T (p.Ala4301=) c.12888A>T (p.Ala4296=) c.12885A>T (p.Ala4295=) c.12870A>T (p.Ala4290=) c.12900A>T (p.Ala4300=) | gnomAD v4 |
19 | g.38565238G>A | CA405672524 | RYR1 | c.1314G>A c.1296G>A c.12904G>A (p.Gly4302Ser) c.12889G>A (p.Gly4297Ser) c.12886G>A (p.Gly4296Ser) c.12871G>A (p.Gly4291Ser) c.12901G>A (p.Gly4301Ser) | gnomAD v4 |
19 | g.38565238G>C | CA405672526 | RYR1 | c.1314G>C c.1296G>C c.12904G>C (p.Gly4302Arg) c.12889G>C (p.Gly4297Arg) c.12886G>C (p.Gly4296Arg) c.12871G>C (p.Gly4291Arg) c.12901G>C (p.Gly4301Arg) | |
19 | g.38565238G>T | CA405672525 | RYR1 | c.1314G>T c.1296G>T c.12904G>T (p.Gly4302Cys) c.12889G>T (p.Gly4297Cys) c.12886G>T (p.Gly4296Cys) c.12871G>T (p.Gly4291Cys) c.12901G>T (p.Gly4301Cys) | |
19 | g.38565239G>A | CA405672527 | RYR1 | c.1315G>A c.1297G>A c.12905G>A (p.Gly4302Asp) c.12890G>A (p.Gly4297Asp) c.12887G>A (p.Gly4296Asp) c.12872G>A (p.Gly4291Asp) c.12902G>A (p.Gly4301Asp) | gnomAD v4 |
19 | g.38565239G>C | CA405672528 | RYR1 | c.1315G>C c.1297G>C c.12905G>C (p.Gly4302Ala) c.12890G>C (p.Gly4297Ala) c.12887G>C (p.Gly4296Ala) c.12872G>C (p.Gly4291Ala) c.12902G>C (p.Gly4301Ala) | |
19 | g.38565239G>T | CA405672529 | RYR1 | c.1315G>T c.1297G>T c.12905G>T (p.Gly4302Val) c.12890G>T (p.Gly4297Val) c.12887G>T (p.Gly4296Val) c.12872G>T (p.Gly4291Val) c.12902G>T (p.Gly4301Val) | gnomAD v4 |
19 | g.38565240C>A | CA507355564 | RYR1 | c.1316C>A c.1298C>A c.12906C>A (p.Gly4302=) c.12891C>A (p.Gly4297=) c.12888C>A (p.Gly4296=) c.12873C>A (p.Gly4291=) c.12903C>A (p.Gly4301=) | gnomAD v4 |
19 | g.38565240C>G | CA507355566 | RYR1 | c.1316C>G c.1298C>G c.12906C>G (p.Gly4302=) c.12891C>G (p.Gly4297=) c.12888C>G (p.Gly4296=) c.12873C>G (p.Gly4291=) c.12903C>G (p.Gly4301=) | |
19 | g.38565240C>T | CA507355565 | RYR1 | c.1316C>T c.1298C>T c.12906C>T (p.Gly4302=) c.12891C>T (p.Gly4297=) c.12888C>T (p.Gly4296=) c.12873C>T (p.Gly4291=) c.12903C>T (p.Gly4301=) | gnomAD v4 |
19 | g.38565241C>A | CA507355569 | RYR1 | c.1317C>A c.1299C>A c.12907C>A (p.Arg4303=) c.12892C>A (p.Arg4298=) c.12889C>A (p.Arg4297=) c.12874C>A (p.Arg4292=) c.12904C>A (p.Arg4302=) | gnomAD v3 gnomAD v4 |
19 | g.38565241C= | CA2335084760 | RYR1 | c.1317C= c.1299C= c.12907C= (p.Arg4303=) c.12892C= (p.Arg4298=) c.12889C= (p.Arg4297=) c.12874C= (p.Arg4292=) c.12904C= (p.Arg4302=) | |
19 | g.38565241C>G | CA308109361 | RYR1 | c.1317C>G c.1299C>G c.12907C>G (p.Arg4303Gly) c.12892C>G (p.Arg4298Gly) c.12889C>G (p.Arg4297Gly) c.12874C>G (p.Arg4292Gly) c.12904C>G (p.Arg4302Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565241C>T | CA405672533 | RYR1 | c.1317C>T c.1299C>T c.12907C>T (p.Arg4303Trp) c.12892C>T (p.Arg4298Trp) c.12889C>T (p.Arg4297Trp) c.12874C>T (p.Arg4292Trp) c.12904C>T (p.Arg4302Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565242G>A | CA405672535 | RYR1 | c.1318G>A c.1300G>A c.12908G>A (p.Arg4303Gln) c.12893G>A (p.Arg4298Gln) c.12890G>A (p.Arg4297Gln) c.12875G>A (p.Arg4292Gln) c.12905G>A (p.Arg4302Gln) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565242G>C | CA405672538 | RYR1 | c.1318G>C c.1300G>C c.12908G>C (p.Arg4303Pro) c.12893G>C (p.Arg4298Pro) c.12890G>C (p.Arg4297Pro) c.12875G>C (p.Arg4292Pro) c.12905G>C (p.Arg4302Pro) | |
19 | g.38565242G= | CA2335084761 | RYR1 | c.1318G= c.1300G= c.12908G= (p.Arg4303=) c.12893G= (p.Arg4298=) c.12890G= (p.Arg4297=) c.12875G= (p.Arg4292=) c.12905G= (p.Arg4302=) | |
19 | g.38565242G>T | CA405672539 | RYR1 | c.1318G>T c.1300G>T c.12908G>T (p.Arg4303Leu) c.12893G>T (p.Arg4298Leu) c.12890G>T (p.Arg4297Leu) c.12875G>T (p.Arg4292Leu) c.12905G>T (p.Arg4302Leu) | gnomAD v4 |
19 | g.38565244del | CA2814346152 | RYR1 | c.1320del c.1302del c.12910del (p.Ala4304ProfsTer?) c.12895del (p.Ala4299ProfsTer?) c.12892del (p.Ala4298ProfsTer?) c.12877del (p.Ala4293ProfsTer?) c.12907del (p.Ala4303ProfsTer?) | |
19 | g.38565243G>A | CA507355572 | RYR1 | c.1319G>A c.1301G>A c.12909G>A (p.Arg4303=) c.12894G>A (p.Arg4298=) c.12891G>A (p.Arg4297=) c.12876G>A (p.Arg4292=) c.12906G>A (p.Arg4302=) | gnomAD v4 |
19 | g.38565243G>C | CA507355573 | RYR1 | c.1319G>C c.1301G>C c.12909G>C (p.Arg4303=) c.12894G>C (p.Arg4298=) c.12891G>C (p.Arg4297=) c.12876G>C (p.Arg4292=) c.12906G>C (p.Arg4302=) | ClinVar |
19 | g.38565243G>T | CA507355574 | RYR1 | c.1319G>T c.1301G>T c.12909G>T (p.Arg4303=) c.12894G>T (p.Arg4298=) c.12891G>T (p.Arg4297=) c.12876G>T (p.Arg4292=) c.12906G>T (p.Arg4302=) | |
19 | g.38565244G>A | CA308109364 | RYR1 | c.1320G>A c.1302G>A c.12910G>A (p.Ala4304Thr) c.12895G>A (p.Ala4299Thr) c.12892G>A (p.Ala4298Thr) c.12877G>A (p.Ala4293Thr) c.12907G>A (p.Ala4303Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565244G>C | CA405672542 | RYR1 | c.1320G>C c.1302G>C c.12910G>C (p.Ala4304Pro) c.12895G>C (p.Ala4299Pro) c.12892G>C (p.Ala4298Pro) c.12877G>C (p.Ala4293Pro) c.12907G>C (p.Ala4303Pro) | |
19 | g.38565244G= | CA2335084762 | RYR1 | c.1320G= c.1302G= c.12910G= (p.Ala4304=) c.12895G= (p.Ala4299=) c.12892G= (p.Ala4298=) c.12877G= (p.Ala4293=) c.12907G= (p.Ala4303=) | |
19 | g.38565244G>T | CA405672544 | RYR1 | c.1320G>T c.1302G>T c.12910G>T (p.Ala4304Ser) c.12895G>T (p.Ala4299Ser) c.12892G>T (p.Ala4298Ser) c.12877G>T (p.Ala4293Ser) c.12907G>T (p.Ala4303Ser) | gnomAD v4 |
19 | g.38565245C>A | CA405672551 | RYR1 | c.1321C>A c.1303C>A c.12911C>A (p.Ala4304Asp) c.12896C>A (p.Ala4299Asp) c.12893C>A (p.Ala4298Asp) c.12878C>A (p.Ala4293Asp) c.12908C>A (p.Ala4303Asp) | gnomAD v4 |
19 | g.38565245C>G | CA405672550 | RYR1 | c.1321C>G c.1303C>G c.12911C>G (p.Ala4304Gly) c.12896C>G (p.Ala4299Gly) c.12893C>G (p.Ala4298Gly) c.12878C>G (p.Ala4293Gly) c.12908C>G (p.Ala4303Gly) | |
19 | g.38565245C>T | CA405672547 | RYR1 | c.1321C>T c.1303C>T c.12911C>T (p.Ala4304Val) c.12896C>T (p.Ala4299Val) c.12893C>T (p.Ala4298Val) c.12878C>T (p.Ala4293Val) c.12908C>T (p.Ala4303Val) | gnomAD v4 |
19 | g.38565247del | CA2584909131 | RYR1 | c.1323del c.1305del c.12913del (p.Leu4305CysfsTer?) c.12898del (p.Leu4300CysfsTer?) c.12895del (p.Leu4299CysfsTer?) c.12880del (p.Leu4294CysfsTer?) c.12910del (p.Leu4304CysfsTer?) | gnomAD v4 |
19 | g.38565246C>A | CA507355579 | RYR1 | c.1322C>A c.1304C>A c.12912C>A (p.Ala4304=) c.12897C>A (p.Ala4299=) c.12894C>A (p.Ala4298=) c.12879C>A (p.Ala4293=) c.12909C>A (p.Ala4303=) | |
19 | g.38565246C= | CA2335084763 | RYR1 | c.1322C= c.1304C= c.12912C= (p.Ala4304=) c.12897C= (p.Ala4299=) c.12894C= (p.Ala4298=) c.12879C= (p.Ala4293=) c.12909C= (p.Ala4303=) | |
19 | g.38565246C>G | CA507355580 | RYR1 | c.1322C>G c.1304C>G c.12912C>G (p.Ala4304=) c.12897C>G (p.Ala4299=) c.12894C>G (p.Ala4298=) c.12879C>G (p.Ala4293=) c.12909C>G (p.Ala4303=) | |
19 | g.38565246C>T | CA507355581 | RYR1 | c.1322C>T c.1304C>T c.12912C>T (p.Ala4304=) c.12897C>T (p.Ala4299=) c.12894C>T (p.Ala4298=) c.12879C>T (p.Ala4293=) c.12909C>T (p.Ala4303=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565247C>A | CA405672553 | RYR1 | c.1323C>A c.1305C>A c.12913C>A (p.Leu4305Met) c.12898C>A (p.Leu4300Met) c.12895C>A (p.Leu4299Met) c.12880C>A (p.Leu4294Met) c.12910C>A (p.Leu4304Met) | |
19 | g.38565247C>G | CA405672555 | RYR1 | c.1323C>G c.1305C>G c.12913C>G (p.Leu4305Val) c.12898C>G (p.Leu4300Val) c.12895C>G (p.Leu4299Val) c.12880C>G (p.Leu4294Val) c.12910C>G (p.Leu4304Val) | |
19 | g.38565247C>T | CA507355583 | RYR1 | c.1323C>T c.1305C>T c.12913C>T (p.Leu4305=) c.12898C>T (p.Leu4300=) c.12895C>T (p.Leu4299=) c.12880C>T (p.Leu4294=) c.12910C>T (p.Leu4304=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565248T>A | CA405672557 | RYR1 | c.1324T>A c.1306T>A c.12914T>A (p.Leu4305Gln) c.12899T>A (p.Leu4300Gln) c.12896T>A (p.Leu4299Gln) c.12881T>A (p.Leu4294Gln) c.12911T>A (p.Leu4304Gln) | |
19 | g.38565248T>C | CA405672559 | RYR1 | c.1324T>C c.1306T>C c.12914T>C (p.Leu4305Pro) c.12899T>C (p.Leu4300Pro) c.12896T>C (p.Leu4299Pro) c.12881T>C (p.Leu4294Pro) c.12911T>C (p.Leu4304Pro) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565248T>G | CA405672562 | RYR1 | c.1324T>G c.1306T>G c.12914T>G (p.Leu4305Arg) c.12899T>G (p.Leu4300Arg) c.12896T>G (p.Leu4299Arg) c.12881T>G (p.Leu4294Arg) c.12911T>G (p.Leu4304Arg) | dbSNP |
19 | g.38565248T= | CA2335084764 | RYR1 | c.1324T= c.1306T= c.12914T= (p.Leu4305=) c.12899T= (p.Leu4300=) c.12896T= (p.Leu4299=) c.12881T= (p.Leu4294=) c.12911T= (p.Leu4304=) | |
19 | g.38565249G>A | CA507355585 | RYR1 | c.1325G>A c.1307G>A c.12915G>A (p.Leu4305=) c.12900G>A (p.Leu4300=) c.12897G>A (p.Leu4299=) c.12882G>A (p.Leu4294=) c.12912G>A (p.Leu4304=) | gnomAD v4 |
19 | g.38565249G>C | CA507355586 | RYR1 | c.1325G>C c.1307G>C c.12915G>C (p.Leu4305=) c.12900G>C (p.Leu4300=) c.12897G>C (p.Leu4299=) c.12882G>C (p.Leu4294=) c.12912G>C (p.Leu4304=) | |
19 | g.38565249G>T | CA507355587 | RYR1 | c.1325G>T c.1307G>T c.12915G>T (p.Leu4305=) c.12900G>T (p.Leu4300=) c.12897G>T (p.Leu4299=) c.12882G>T (p.Leu4294=) c.12912G>T (p.Leu4304=) | |
19 | g.38565250C>A | CA507355589 | RYR1 | c.1326C>A c.1308C>A c.12916C>A (p.Arg4306=) c.12901C>A (p.Arg4301=) c.12898C>A (p.Arg4300=) c.12883C>A (p.Arg4295=) c.12913C>A (p.Arg4305=) | gnomAD v4 |
19 | g.38565250C= | CA2335084765 | RYR1 | c.1326C= c.1308C= c.12916C= (p.Arg4306=) c.12901C= (p.Arg4301=) c.12898C= (p.Arg4300=) c.12883C= (p.Arg4295=) c.12913C= (p.Arg4305=) | |
19 | g.38565250C>G | CA405672563 | RYR1 | c.1326C>G c.1308C>G c.12916C>G (p.Arg4306Gly) c.12901C>G (p.Arg4301Gly) c.12898C>G (p.Arg4300Gly) c.12883C>G (p.Arg4295Gly) c.12913C>G (p.Arg4305Gly) | |
19 | g.38565250C>T | CA405672565 | RYR1 | c.1326C>T c.1308C>T c.12916C>T (p.Arg4306Ter) c.12901C>T (p.Arg4301Ter) c.12898C>T (p.Arg4300Ter) c.12883C>T (p.Arg4295Ter) c.12913C>T (p.Arg4305Ter) | ClinVar dbSNP gnomAD v4 |
19 | g.38565251G>A | CA405672567 | RYR1 | c.1327G>A c.1309G>A c.12917G>A (p.Arg4306Gln) c.12902G>A (p.Arg4301Gln) c.12899G>A (p.Arg4300Gln) c.12884G>A (p.Arg4295Gln) c.12914G>A (p.Arg4305Gln) | ClinVar dbSNP gnomAD v4 |
19 | g.38565251G>C | CA405672570 | RYR1 | c.1327G>C c.1309G>C c.12917G>C (p.Arg4306Pro) c.12902G>C (p.Arg4301Pro) c.12899G>C (p.Arg4300Pro) c.12884G>C (p.Arg4295Pro) c.12914G>C (p.Arg4305Pro) | |
19 | g.38565251G>T | CA405672572 | RYR1 | c.1327G>T c.1309G>T c.12917G>T (p.Arg4306Leu) c.12902G>T (p.Arg4301Leu) c.12899G>T (p.Arg4300Leu) c.12884G>T (p.Arg4295Leu) c.12914G>T (p.Arg4305Leu) | |
19 | g.38565252A>C | CA507355594 | RYR1 | c.1328A>C c.1310A>C c.12918A>C (p.Arg4306=) c.12903A>C (p.Arg4301=) c.12900A>C (p.Arg4300=) c.12885A>C (p.Arg4295=) c.12915A>C (p.Arg4305=) | |
19 | g.38565252A>G | CA507355596 | RYR1 | c.1328A>G c.1310A>G c.12918A>G (p.Arg4306=) c.12903A>G (p.Arg4301=) c.12900A>G (p.Arg4300=) c.12885A>G (p.Arg4295=) c.12915A>G (p.Arg4305=) | dbSNP gnomAD v4 |
19 | g.38565252A>T | CA507355595 | RYR1 | c.1328A>T c.1310A>T c.12918A>T (p.Arg4306=) c.12903A>T (p.Arg4301=) c.12900A>T (p.Arg4300=) c.12885A>T (p.Arg4295=) c.12915A>T (p.Arg4305=) | |
19 | g.38565253G>A | CA405672574 | RYR1 | c.1329G>A c.1311G>A c.12919G>A (p.Gly4307Ser) c.12904G>A (p.Gly4302Ser) c.12901G>A (p.Gly4301Ser) c.12886G>A (p.Gly4296Ser) c.12916G>A (p.Gly4306Ser) | |
19 | g.38565253G>C | CA405672575 | RYR1 | c.1329G>C c.1311G>C c.12919G>C (p.Gly4307Arg) c.12904G>C (p.Gly4302Arg) c.12901G>C (p.Gly4301Arg) c.12886G>C (p.Gly4296Arg) c.12916G>C (p.Gly4306Arg) | gnomAD v4 |
19 | g.38565253G= | CA2335084766 | RYR1 | c.1329G= c.1311G= c.12919G= (p.Gly4307=) c.12904G= (p.Gly4302=) c.12901G= (p.Gly4301=) c.12886G= (p.Gly4296=) c.12916G= (p.Gly4306=) | |
19 | g.38565253G>T | CA405672577 | RYR1 | c.1329G>T c.1311G>T c.12919G>T (p.Gly4307Cys) c.12904G>T (p.Gly4302Cys) c.12901G>T (p.Gly4301Cys) c.12886G>T (p.Gly4296Cys) c.12916G>T (p.Gly4306Cys) | dbSNP gnomAD v4 |
19 | g.38565254G>A | CA405672584 | RYR1 | c.1330G>A c.1312G>A c.12920G>A (p.Gly4307Asp) c.12905G>A (p.Gly4302Asp) c.12902G>A (p.Gly4301Asp) c.12887G>A (p.Gly4296Asp) c.12917G>A (p.Gly4306Asp) | dbSNP gnomAD v4 |
19 | g.38565254G>C | CA405672583 | RYR1 | c.1330G>C c.1312G>C c.12920G>C (p.Gly4307Ala) c.12905G>C (p.Gly4302Ala) c.12902G>C (p.Gly4301Ala) c.12887G>C (p.Gly4296Ala) c.12917G>C (p.Gly4306Ala) | gnomAD v4 |
19 | g.38565254G= | CA2335084767 | RYR1 | c.1330G= c.1312G= c.12920G= (p.Gly4307=) c.12905G= (p.Gly4302=) c.12902G= (p.Gly4301=) c.12887G= (p.Gly4296=) c.12917G= (p.Gly4306=) | |
19 | g.38565254G>T | CA405672580 | RYR1 | c.1330G>T c.1312G>T c.12920G>T (p.Gly4307Val) c.12905G>T (p.Gly4302Val) c.12902G>T (p.Gly4301Val) c.12887G>T (p.Gly4296Val) c.12917G>T (p.Gly4306Val) | dbSNP gnomAD v4 |
19 | g.38565255C>A | CA507355602 | RYR1 | c.1331C>A c.1313C>A c.12921C>A (p.Gly4307=) c.12906C>A (p.Gly4302=) c.12903C>A (p.Gly4301=) c.12888C>A (p.Gly4296=) c.12918C>A (p.Gly4306=) | gnomAD v4 |
19 | g.38565255C= | CA2335084768 | RYR1 | c.1331C= c.1313C= c.12921C= (p.Gly4307=) c.12906C= (p.Gly4302=) c.12903C= (p.Gly4301=) c.12888C= (p.Gly4296=) c.12918C= (p.Gly4306=) | |
19 | g.38565255C>G | CA507355603 | RYR1 | c.1331C>G c.1313C>G c.12921C>G (p.Gly4307=) c.12906C>G (p.Gly4302=) c.12903C>G (p.Gly4301=) c.12888C>G (p.Gly4296=) c.12918C>G (p.Gly4306=) | |
19 | g.38565255C>T | CA507355605 | RYR1 | c.1331C>T c.1313C>T c.12921C>T (p.Gly4307=) c.12906C>T (p.Gly4302=) c.12903C>T (p.Gly4301=) c.12888C>T (p.Gly4296=) c.12918C>T (p.Gly4306=) | dbSNP |
19 | g.38565256C>A | CA405672587 | RYR1 | c.1332C>A c.1314C>A c.12922C>A (p.Leu4308Ile) c.12907C>A (p.Leu4303Ile) c.12904C>A (p.Leu4302Ile) c.12889C>A (p.Leu4297Ile) c.12919C>A (p.Leu4307Ile) | dbSNP gnomAD v4 |
19 | g.38565256C= | CA2335084769 | RYR1 | c.1332C= c.1314C= c.12922C= (p.Leu4308=) c.12907C= (p.Leu4303=) c.12904C= (p.Leu4302=) c.12889C= (p.Leu4297=) c.12919C= (p.Leu4307=) | |
19 | g.38565256C>G | CA405672590 | RYR1 | c.1332C>G c.1314C>G c.12922C>G (p.Leu4308Val) c.12907C>G (p.Leu4303Val) c.12904C>G (p.Leu4302Val) c.12889C>G (p.Leu4297Val) c.12919C>G (p.Leu4307Val) | |
19 | g.38565256C>T | CA405672592 | RYR1 | c.1332C>T c.1314C>T c.12922C>T (p.Leu4308Phe) c.12907C>T (p.Leu4303Phe) c.12904C>T (p.Leu4302Phe) c.12889C>T (p.Leu4297Phe) c.12919C>T (p.Leu4307Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565257T>A | CA405672595 | RYR1 | c.1333T>A c.1315T>A c.12923T>A (p.Leu4308His) c.12908T>A (p.Leu4303His) c.12905T>A (p.Leu4302His) c.12890T>A (p.Leu4297His) c.12920T>A (p.Leu4307His) | dbSNP |
19 | g.38565257T>C | CA308109368 | RYR1 | c.1333T>C c.1315T>C c.12923T>C (p.Leu4308Pro) c.12908T>C (p.Leu4303Pro) c.12905T>C (p.Leu4302Pro) c.12890T>C (p.Leu4297Pro) c.12920T>C (p.Leu4307Pro) | dbSNP gnomAD v4 |
19 | g.38565257T>G | CA405672597 | RYR1 | c.1333T>G c.1315T>G c.12923T>G (p.Leu4308Arg) c.12908T>G (p.Leu4303Arg) c.12905T>G (p.Leu4302Arg) c.12890T>G (p.Leu4297Arg) c.12920T>G (p.Leu4307Arg) | |
19 | g.38565257T= | CA2335084770 | RYR1 | c.1333T= c.1315T= c.12923T= (p.Leu4308=) c.12908T= (p.Leu4303=) c.12905T= (p.Leu4302=) c.12890T= (p.Leu4297=) c.12920T= (p.Leu4307=) | |
19 | g.38565258C>A | CA507355610 | RYR1 | c.1334C>A c.1316C>A c.12924C>A (p.Leu4308=) c.12909C>A (p.Leu4303=) c.12906C>A (p.Leu4302=) c.12891C>A (p.Leu4297=) c.12921C>A (p.Leu4307=) | gnomAD v4 |
19 | g.38565258C>G | CA507355611 | RYR1 | c.1334C>G c.1316C>G c.12924C>G (p.Leu4308=) c.12909C>G (p.Leu4303=) c.12906C>G (p.Leu4302=) c.12891C>G (p.Leu4297=) c.12921C>G (p.Leu4307=) | |
19 | g.38565258C>T | CA507355612 | RYR1 | c.1334C>T c.1316C>T c.12924C>T (p.Leu4308=) c.12909C>T (p.Leu4303=) c.12906C>T (p.Leu4302=) c.12891C>T (p.Leu4297=) c.12921C>T (p.Leu4307=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565259A>C | CA405672598 | RYR1 | c.1335A>C c.1317A>C c.12925A>C (p.Ser4309Arg) c.12910A>C (p.Ser4304Arg) c.12907A>C (p.Ser4303Arg) c.12892A>C (p.Ser4298Arg) c.12922A>C (p.Ser4308Arg) | gnomAD v4 |
19 | g.38565259A>G | CA405672601 | RYR1 | c.1335A>G c.1317A>G c.12925A>G (p.Ser4309Gly) c.12910A>G (p.Ser4304Gly) c.12907A>G (p.Ser4303Gly) c.12892A>G (p.Ser4298Gly) c.12922A>G (p.Ser4308Gly) | gnomAD v4 |
19 | g.38565259A>T | CA405672604 | RYR1 | c.1335A>T c.1317A>T c.12925A>T (p.Ser4309Cys) c.12910A>T (p.Ser4304Cys) c.12907A>T (p.Ser4303Cys) c.12892A>T (p.Ser4298Cys) c.12922A>T (p.Ser4308Cys) | |
19 | g.38565259_38565260del | CA2584909132 | RYR1 | c.1335_1336del c.1317_1318del c.12925_12926del (p.Ser4309LeufsTer?) c.12910_12911del (p.Ser4304LeufsTer?) c.12907_12908del (p.Ser4303LeufsTer?) c.12892_12893del (p.Ser4298LeufsTer?) c.12922_12923del (p.Ser4308LeufsTer?) | gnomAD v4 |
19 | g.38565260_38565263del | CA2576772100 | RYR1 | c.1336_1339del c.1318_1321del c.12926_12929del (p.Ser4309ThrfsTer?) c.12911_12914del (p.Ser4304ThrfsTer?) c.12908_12911del (p.Ser4303ThrfsTer?) c.12893_12896del (p.Ser4298ThrfsTer?) c.12923_12926del (p.Ser4308ThrfsTer?) | ClinVar |
19 | g.38565260G>A | CA405672607 | RYR1 | c.1336G>A c.1318G>A c.12926G>A (p.Ser4309Asn) c.12911G>A (p.Ser4304Asn) c.12908G>A (p.Ser4303Asn) c.12893G>A (p.Ser4298Asn) c.12923G>A (p.Ser4308Asn) | |
19 | g.38565260G>C | CA405672608 | RYR1 | c.1336G>C c.1318G>C c.12926G>C (p.Ser4309Thr) c.12911G>C (p.Ser4304Thr) c.12908G>C (p.Ser4303Thr) c.12893G>C (p.Ser4298Thr) c.12923G>C (p.Ser4308Thr) | dbSNP |
19 | g.38565260G= | CA2335084771 | RYR1 | c.1336G= c.1318G= c.12926G= (p.Ser4309=) c.12911G= (p.Ser4304=) c.12908G= (p.Ser4303=) c.12893G= (p.Ser4298=) c.12923G= (p.Ser4308=) | |
19 | g.38565260G>T | CA405672611 | RYR1 | c.1336G>T c.1318G>T c.12926G>T (p.Ser4309Ile) c.12911G>T (p.Ser4304Ile) c.12908G>T (p.Ser4303Ile) c.12893G>T (p.Ser4298Ile) c.12923G>T (p.Ser4308Ile) | ClinVar gnomAD v4 |
19 | g.38565261C>A | CA405672615 | RYR1 | c.1337C>A c.1319C>A c.12927C>A (p.Ser4309Arg) c.12912C>A (p.Ser4304Arg) c.12909C>A (p.Ser4303Arg) c.12894C>A (p.Ser4298Arg) c.12924C>A (p.Ser4308Arg) | gnomAD v4 |
19 | g.38565261C>G | CA405672616 | RYR1 | c.1337C>G c.1319C>G c.12927C>G (p.Ser4309Arg) c.12912C>G (p.Ser4304Arg) c.12909C>G (p.Ser4303Arg) c.12894C>G (p.Ser4298Arg) c.12924C>G (p.Ser4308Arg) | |
19 | g.38565261C>T | CA507355620 | RYR1 | c.1337C>T c.1319C>T c.12927C>T (p.Ser4309=) c.12912C>T (p.Ser4304=) c.12909C>T (p.Ser4303=) c.12894C>T (p.Ser4298=) c.12924C>T (p.Ser4308=) | gnomAD v4 |