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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38577920C>A | CA507245706 | RYR1 | c.1111C>A c.2508C>A c.2480C>A c.14175C>A (p.Val4725=) c.14160C>A (p.Val4720=) c.14157C>A (p.Val4719=) c.14142C>A (p.Val4714=) c.14172C>A (p.Val4724=) c.14088C>A (p.Val4696=) | |
| 19 | g.38577920C= | CA2335091277 | RYR1 | c.1111C= c.2508C= c.2480C= c.14175C= (p.Val4725=) c.14160C= (p.Val4720=) c.14157C= (p.Val4719=) c.14142C= (p.Val4714=) c.14172C= (p.Val4724=) c.14088C= (p.Val4696=) | |
| 19 | g.38577920C>G | CA507245705 | RYR1 | c.1111C>G c.2508C>G c.2480C>G c.14175C>G (p.Val4725=) c.14160C>G (p.Val4720=) c.14157C>G (p.Val4719=) c.14142C>G (p.Val4714=) c.14172C>G (p.Val4724=) c.14088C>G (p.Val4696=) | |
| 19 | g.38577920C>T | CA060976 | RYR1 | c.1111C>T c.2508C>T c.2480C>T c.14175C>T (p.Val4725=) c.14160C>T (p.Val4720=) c.14157C>T (p.Val4719=) c.14142C>T (p.Val4714=) c.14172C>T (p.Val4724=) c.14088C>T (p.Val4696=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38577921C>A | CA405684140 | RYR1 | c.1112C>A c.2509C>A c.2481C>A c.14176C>A (p.Leu4726Met) c.14161C>A (p.Leu4721Met) c.14158C>A (p.Leu4720Met) c.14143C>A (p.Leu4715Met) c.14173C>A (p.Leu4725Met) c.14089C>A (p.Leu4697Met) | COSMIC |
| 19 | g.38577921C>G | CA405684136 | RYR1 | c.1112C>G c.2509C>G c.2481C>G c.14176C>G (p.Leu4726Val) c.14161C>G (p.Leu4721Val) c.14158C>G (p.Leu4720Val) c.14143C>G (p.Leu4715Val) c.14173C>G (p.Leu4725Val) c.14089C>G (p.Leu4697Val) | gnomAD v4 |
| 19 | g.38577921C>T | CA507245710 | RYR1 | c.1112C>T c.2509C>T c.2481C>T c.14176C>T (p.Leu4726=) c.14161C>T (p.Leu4721=) c.14158C>T (p.Leu4720=) c.14143C>T (p.Leu4715=) c.14173C>T (p.Leu4725=) c.14089C>T (p.Leu4697=) | |
| 19 | g.38577922T>A | CA405684144 | RYR1 | c.1113T>A c.2510T>A c.2482T>A c.14177T>A (p.Leu4726Gln) c.14162T>A (p.Leu4721Gln) c.14159T>A (p.Leu4720Gln) c.14144T>A (p.Leu4715Gln) c.14174T>A (p.Leu4725Gln) c.14090T>A (p.Leu4697Gln) | |
| 19 | g.38577922T>C | CA405684150 | RYR1 | c.1113T>C c.2510T>C c.2482T>C c.14177T>C (p.Leu4726Pro) c.14162T>C (p.Leu4721Pro) c.14159T>C (p.Leu4720Pro) c.14144T>C (p.Leu4715Pro) c.14174T>C (p.Leu4725Pro) c.14090T>C (p.Leu4697Pro) | |
| 19 | g.38577922T>G | CA405684152 | RYR1 | c.1113T>G c.2510T>G c.2482T>G c.14177T>G (p.Leu4726Arg) c.14162T>G (p.Leu4721Arg) c.14159T>G (p.Leu4720Arg) c.14144T>G (p.Leu4715Arg) c.14174T>G (p.Leu4725Arg) c.14090T>G (p.Leu4697Arg) | |
| 19 | g.38577923G>A | CA507245711 | RYR1 | c.1114G>A c.2511G>A c.2483G>A c.14178G>A (p.Leu4726=) c.14163G>A (p.Leu4721=) c.14160G>A (p.Leu4720=) c.14145G>A (p.Leu4715=) c.14175G>A (p.Leu4725=) c.14091G>A (p.Leu4697=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38577923G>C | CA507245713 | RYR1 | c.1114G>C c.2511G>C c.2483G>C c.14178G>C (p.Leu4726=) c.14163G>C (p.Leu4721=) c.14160G>C (p.Leu4720=) c.14145G>C (p.Leu4715=) c.14175G>C (p.Leu4725=) c.14091G>C (p.Leu4697=) | |
| 19 | g.38577923G>T | CA507245714 | RYR1 | c.1114G>T c.2511G>T c.2483G>T c.14178G>T (p.Leu4726=) c.14163G>T (p.Leu4721=) c.14160G>T (p.Leu4720=) c.14145G>T (p.Leu4715=) c.14175G>T (p.Leu4725=) c.14091G>T (p.Leu4697=) | |
| 19 | g.38577924G>A | CA405684156 | RYR1 | c.1115G>A c.2512G>A c.2484G>A c.14179G>A (p.Asp4727Asn) c.14164G>A (p.Asp4722Asn) c.14161G>A (p.Asp4721Asn) c.14146G>A (p.Asp4716Asn) c.14176G>A (p.Asp4726Asn) c.14092G>A (p.Asp4698Asn) | |
| 19 | g.38577924G>C | CA405684158 | RYR1 | c.1115G>C c.2512G>C c.2484G>C c.14179G>C (p.Asp4727His) c.14164G>C (p.Asp4722His) c.14161G>C (p.Asp4721His) c.14146G>C (p.Asp4716His) c.14176G>C (p.Asp4726His) c.14092G>C (p.Asp4698His) | |
| 19 | g.38577924G>T | CA405684162 | RYR1 | c.1115G>T c.2512G>T c.2484G>T c.14179G>T (p.Asp4727Tyr) c.14164G>T (p.Asp4722Tyr) c.14161G>T (p.Asp4721Tyr) c.14146G>T (p.Asp4716Tyr) c.14176G>T (p.Asp4726Tyr) c.14092G>T (p.Asp4698Tyr) | |
| 19 | g.38577925A>C | CA405684178 | RYR1 | c.1116A>C c.2513A>C c.2485A>C c.14180A>C (p.Asp4727Ala) c.14165A>C (p.Asp4722Ala) c.14162A>C (p.Asp4721Ala) c.14147A>C (p.Asp4716Ala) c.14177A>C (p.Asp4726Ala) c.14093A>C (p.Asp4698Ala) | |
| 19 | g.38577925A>G | CA405684165 | RYR1 | c.1116A>G c.2513A>G c.2485A>G c.14180A>G (p.Asp4727Gly) c.14165A>G (p.Asp4722Gly) c.14162A>G (p.Asp4721Gly) c.14147A>G (p.Asp4716Gly) c.14177A>G (p.Asp4726Gly) c.14093A>G (p.Asp4698Gly) | |
| 19 | g.38577925A>T | CA405684174 | RYR1 | c.1116A>T c.2513A>T c.2485A>T c.14180A>T (p.Asp4727Val) c.14165A>T (p.Asp4722Val) c.14162A>T (p.Asp4721Val) c.14147A>T (p.Asp4716Val) c.14177A>T (p.Asp4726Val) c.14093A>T (p.Asp4698Val) | |
| 19 | g.38577926C>A | CA405684183 | RYR1 | c.1117C>A c.2514C>A c.2486C>A c.14181C>A (p.Asp4727Glu) c.14166C>A (p.Asp4722Glu) c.14163C>A (p.Asp4721Glu) c.14148C>A (p.Asp4716Glu) c.14178C>A (p.Asp4726Glu) c.14094C>A (p.Asp4698Glu) | |
| 19 | g.38577926C>G | CA405684188 | RYR1 | c.1117C>G c.2514C>G c.2486C>G c.14181C>G (p.Asp4727Glu) c.14166C>G (p.Asp4722Glu) c.14163C>G (p.Asp4721Glu) c.14148C>G (p.Asp4716Glu) c.14178C>G (p.Asp4726Glu) c.14094C>G (p.Asp4698Glu) | |
| 19 | g.38577926C>T | CA507245716 | RYR1 | c.1117C>T c.2514C>T c.2486C>T c.14181C>T (p.Asp4727=) c.14166C>T (p.Asp4722=) c.14163C>T (p.Asp4721=) c.14148C>T (p.Asp4716=) c.14178C>T (p.Asp4726=) c.14094C>T (p.Asp4698=) | gnomAD v4 |
| 19 | g.38577927A>C | CA405684196 | RYR1 | c.1118A>C c.2515A>C c.2487A>C c.14182A>C (p.Lys4728Gln) c.14167A>C (p.Lys4723Gln) c.14164A>C (p.Lys4722Gln) c.14149A>C (p.Lys4717Gln) c.14179A>C (p.Lys4727Gln) c.14095A>C (p.Lys4699Gln) | |
| 19 | g.38577927A>G | CA405684198 | RYR1 | c.1118A>G c.2515A>G c.2487A>G c.14182A>G (p.Lys4728Glu) c.14167A>G (p.Lys4723Glu) c.14164A>G (p.Lys4722Glu) c.14149A>G (p.Lys4717Glu) c.14179A>G (p.Lys4727Glu) c.14095A>G (p.Lys4699Glu) | gnomAD v4 |
| 19 | g.38577927A>T | CA405684201 | RYR1 | c.1118A>T c.2515A>T c.2487A>T c.14182A>T (p.Lys4728Ter) c.14167A>T (p.Lys4723Ter) c.14164A>T (p.Lys4722Ter) c.14149A>T (p.Lys4717Ter) c.14179A>T (p.Lys4727Ter) c.14095A>T (p.Lys4699Ter) | |
| 19 | g.38577928A>C | CA405684205 | RYR1 | c.1119A>C c.2516A>C c.2488A>C c.14183A>C (p.Lys4728Thr) c.14168A>C (p.Lys4723Thr) c.14165A>C (p.Lys4722Thr) c.14150A>C (p.Lys4717Thr) c.14180A>C (p.Lys4727Thr) c.14096A>C (p.Lys4699Thr) | |
| 19 | g.38577928A>G | CA405684209 | RYR1 | c.1119A>G c.2516A>G c.2488A>G c.14183A>G (p.Lys4728Arg) c.14168A>G (p.Lys4723Arg) c.14165A>G (p.Lys4722Arg) c.14150A>G (p.Lys4717Arg) c.14180A>G (p.Lys4727Arg) c.14096A>G (p.Lys4699Arg) | |
| 19 | g.38577928A>T | CA405684208 | RYR1 | c.1119A>T c.2516A>T c.2488A>T c.14183A>T (p.Lys4728Ile) c.14168A>T (p.Lys4723Ile) c.14165A>T (p.Lys4722Ile) c.14150A>T (p.Lys4717Ile) c.14180A>T (p.Lys4727Ile) c.14096A>T (p.Lys4699Ile) | gnomAD v4 |
| 19 | g.38577929A>C | CA405684211 | RYR1 | c.1120A>C c.2517A>C c.2489A>C c.14184A>C (p.Lys4728Asn) c.14169A>C (p.Lys4723Asn) c.14166A>C (p.Lys4722Asn) c.14151A>C (p.Lys4717Asn) c.14181A>C (p.Lys4727Asn) c.14097A>C (p.Lys4699Asn) | |
| 19 | g.38577929A>G | CA507245719 | RYR1 | c.1120A>G c.2517A>G c.2489A>G c.14184A>G (p.Lys4728=) c.14169A>G (p.Lys4723=) c.14166A>G (p.Lys4722=) c.14151A>G (p.Lys4717=) c.14181A>G (p.Lys4727=) c.14097A>G (p.Lys4699=) | |
| 19 | g.38577929A>T | CA405684213 | RYR1 | c.1120A>T c.2517A>T c.2489A>T c.14184A>T (p.Lys4728Asn) c.14169A>T (p.Lys4723Asn) c.14166A>T (p.Lys4722Asn) c.14151A>T (p.Lys4717Asn) c.14181A>T (p.Lys4727Asn) c.14097A>T (p.Lys4699Asn) | |
| 19 | g.38577930_38577931del | CA081116 | RYR1 | c.1121_1122del c.2518_2519del c.2490_2491del c.14185_14186del (p.His4729TrpfsTer11) c.14170_14171del (p.His4724TrpfsTer11) c.14167_14168del (p.His4723TrpfsTer11) c.14152_14153del (p.His4718TrpfsTer11) c.14182_14183del (p.His4728TrpfsTer11) c.14098_14099del (p.His4700TrpfsTer11) | |
| 19 | g.38577929_38577933del | CA2502087441 | RYR1 | c.1120_1124del c.2517_2521del c.2489_2493del c.14184_14188del (p.His4729GlyfsTer10) c.14169_14173del (p.His4724GlyfsTer10) c.14166_14170del (p.His4723GlyfsTer10) c.14151_14155del (p.His4718GlyfsTer10) c.14181_14185del (p.His4728GlyfsTer10) c.14097_14101del (p.His4700GlyfsTer10) | |
| 19 | g.38577930C>A | CA405684215 | RYR1 | c.1121C>A c.2518C>A c.2490C>A c.14185C>A (p.His4729Asn) c.14170C>A (p.His4724Asn) c.14167C>A (p.His4723Asn) c.14152C>A (p.His4718Asn) c.14182C>A (p.His4728Asn) c.14098C>A (p.His4700Asn) | gnomAD v4 |
| 19 | g.38577930C>G | CA405684221 | RYR1 | c.1121C>G c.2518C>G c.2490C>G c.14185C>G (p.His4729Asp) c.14170C>G (p.His4724Asp) c.14167C>G (p.His4723Asp) c.14152C>G (p.His4718Asp) c.14182C>G (p.His4728Asp) c.14098C>G (p.His4700Asp) | |
| 19 | g.38577930C>T | CA405684222 | RYR1 | c.1121C>T c.2518C>T c.2490C>T c.14185C>T (p.His4729Tyr) c.14170C>T (p.His4724Tyr) c.14167C>T (p.His4723Tyr) c.14152C>T (p.His4718Tyr) c.14182C>T (p.His4728Tyr) c.14098C>T (p.His4700Tyr) | |
| 19 | g.38577931A= | CA2335091278 | RYR1 | c.1122A= c.2519A= c.2491A= c.14186A= (p.His4729=) c.14171A= (p.His4724=) c.14168A= (p.His4723=) c.14153A= (p.His4718=) c.14183A= (p.His4728=) c.14099A= (p.His4700=) | |
| 19 | g.38577931A>C | CA405684225 | RYR1 | c.1122A>C c.2519A>C c.2491A>C c.14186A>C (p.His4729Pro) c.14171A>C (p.His4724Pro) c.14168A>C (p.His4723Pro) c.14153A>C (p.His4718Pro) c.14183A>C (p.His4728Pro) c.14099A>C (p.His4700Pro) | ClinVar dbSNP |
| 19 | g.38577931A>G | CA405684226 | RYR1 | c.1122A>G c.2519A>G c.2491A>G c.14186A>G (p.His4729Arg) c.14171A>G (p.His4724Arg) c.14168A>G (p.His4723Arg) c.14153A>G (p.His4718Arg) c.14183A>G (p.His4728Arg) c.14099A>G (p.His4700Arg) | ClinVar |
| 19 | g.38577931A>T | CA405684228 | RYR1 | c.1122A>T c.2519A>T c.2491A>T c.14186A>T (p.His4729Leu) c.14171A>T (p.His4724Leu) c.14168A>T (p.His4723Leu) c.14153A>T (p.His4718Leu) c.14183A>T (p.His4728Leu) c.14099A>T (p.His4700Leu) | gnomAD v4 |
| 19 | g.38577931_38577932del | CA2573054761 | RYR1 | c.1122_1123del c.2519_2520del c.2491_2492del c.14186_14187del (p.His4729ArgfsTer11) c.14171_14172del (p.His4724ArgfsTer11) c.14168_14169del (p.His4723ArgfsTer11) c.14153_14154del (p.His4718ArgfsTer11) c.14183_14184del (p.His4728ArgfsTer11) c.14099_14100del (p.His4700ArgfsTer11) | dbSNP |
| 19 | g.38577932T>A | CA405684236 | RYR1 | c.1123T>A c.2520T>A c.2492T>A c.14187T>A (p.His4729Gln) c.14172T>A (p.His4724Gln) c.14169T>A (p.His4723Gln) c.14154T>A (p.His4718Gln) c.14184T>A (p.His4728Gln) c.14100T>A (p.His4700Gln) | |
| 19 | g.38577932T>C | CA507245720 | RYR1 | c.1123T>C c.2520T>C c.2492T>C c.14187T>C (p.His4729=) c.14172T>C (p.His4724=) c.14169T>C (p.His4723=) c.14154T>C (p.His4718=) c.14184T>C (p.His4728=) c.14100T>C (p.His4700=) | gnomAD v4 |
| 19 | g.38577932T>G | CA405684237 | RYR1 | c.1123T>G c.2520T>G c.2492T>G c.14187T>G (p.His4729Gln) c.14172T>G (p.His4724Gln) c.14169T>G (p.His4723Gln) c.14154T>G (p.His4718Gln) c.14184T>G (p.His4728Gln) c.14100T>G (p.His4700Gln) | |
| 19 | g.38577933G>A | CA405684239 | RYR1 | c.1124G>A c.2521G>A c.2493G>A c.14188G>A (p.Gly4730Arg) c.14173G>A (p.Gly4725Arg) c.14170G>A (p.Gly4724Arg) c.14155G>A (p.Gly4719Arg) c.14185G>A (p.Gly4729Arg) c.14101G>A (p.Gly4701Arg) | gnomAD v4 |
| 19 | g.38577933G>C | CA405684241 | RYR1 | c.1124G>C c.2521G>C c.2493G>C c.14188G>C (p.Gly4730Arg) c.14173G>C (p.Gly4725Arg) c.14170G>C (p.Gly4724Arg) c.14155G>C (p.Gly4719Arg) c.14185G>C (p.Gly4729Arg) c.14101G>C (p.Gly4701Arg) | |
| 19 | g.38577933G>T | CA405684243 | RYR1 | c.1124G>T c.2521G>T c.2493G>T c.14188G>T (p.Gly4730Trp) c.14173G>T (p.Gly4725Trp) c.14170G>T (p.Gly4724Trp) c.14155G>T (p.Gly4719Trp) c.14185G>T (p.Gly4729Trp) c.14101G>T (p.Gly4701Trp) | |
| 19 | g.38577934G>A | CA405684256 | RYR1 | c.1125G>A c.2522G>A c.2494G>A c.14189G>A (p.Gly4730Glu) c.14174G>A (p.Gly4725Glu) c.14171G>A (p.Gly4724Glu) c.14156G>A (p.Gly4719Glu) c.14186G>A (p.Gly4729Glu) c.14102G>A (p.Gly4701Glu) | |
| 19 | g.38577934G>C | CA405684250 | RYR1 | c.1125G>C c.2522G>C c.2494G>C c.14189G>C (p.Gly4730Ala) c.14174G>C (p.Gly4725Ala) c.14171G>C (p.Gly4724Ala) c.14156G>C (p.Gly4719Ala) c.14186G>C (p.Gly4729Ala) c.14102G>C (p.Gly4701Ala) | |
| 19 | g.38577934G= | CA2335091279 | RYR1 | c.1125G= c.2522G= c.2494G= c.14189G= (p.Gly4730=) c.14174G= (p.Gly4725=) c.14171G= (p.Gly4724=) c.14156G= (p.Gly4719=) c.14186G= (p.Gly4729=) c.14102G= (p.Gly4701=) | |
| 19 | g.38577934G>T | CA060978 | RYR1 | c.1125G>T c.2522G>T c.2494G>T c.14189G>T (p.Gly4730Val) c.14174G>T (p.Gly4725Val) c.14171G>T (p.Gly4724Val) c.14156G>T (p.Gly4719Val) c.14186G>T (p.Gly4729Val) c.14102G>T (p.Gly4701Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38577935G>A | CA507245722 | RYR1 | c.1126G>A c.2523G>A c.2495G>A c.14190G>A (p.Gly4730=) c.14175G>A (p.Gly4725=) c.14172G>A (p.Gly4724=) c.14157G>A (p.Gly4719=) c.14187G>A (p.Gly4729=) c.14103G>A (p.Gly4701=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38577935G>C | CA507245724 | RYR1 | c.1126G>C c.2523G>C c.2495G>C c.14190G>C (p.Gly4730=) c.14175G>C (p.Gly4725=) c.14172G>C (p.Gly4724=) c.14157G>C (p.Gly4719=) c.14187G>C (p.Gly4729=) c.14103G>C (p.Gly4701=) | |
| 19 | g.38577935G= | CA2335091280 | RYR1 | c.1126G= c.2523G= c.2495G= c.14190G= (p.Gly4730=) c.14175G= (p.Gly4725=) c.14172G= (p.Gly4724=) c.14157G= (p.Gly4719=) c.14187G= (p.Gly4729=) c.14103G= (p.Gly4701=) | |
| 19 | g.38577935G>T | CA507245726 | RYR1 | c.1126G>T c.2523G>T c.2495G>T c.14190G>T (p.Gly4730=) c.14175G>T (p.Gly4725=) c.14172G>T (p.Gly4724=) c.14157G>T (p.Gly4719=) c.14187G>T (p.Gly4729=) c.14103G>T (p.Gly4701=) | |
| 19 | g.38577936G>A | CA308120071 | RYR1 | c.1127G>A c.2524G>A c.2496G>A c.14191G>A (p.Asp4731Asn) c.14176G>A (p.Asp4726Asn) c.14173G>A (p.Asp4725Asn) c.14158G>A (p.Asp4720Asn) c.14188G>A (p.Asp4730Asn) c.14104G>A (p.Asp4702Asn) | dbSNP COSMIC |
| 19 | g.38577936G>C | CA405684257 | RYR1 | c.1127G>C c.2524G>C c.2496G>C c.14191G>C (p.Asp4731His) c.14176G>C (p.Asp4726His) c.14173G>C (p.Asp4725His) c.14158G>C (p.Asp4720His) c.14188G>C (p.Asp4730His) c.14104G>C (p.Asp4702His) | |
| 19 | g.38577936G= | CA2335091281 | RYR1 | c.1127G= c.2524G= c.2496G= c.14191G= (p.Asp4731=) c.14176G= (p.Asp4726=) c.14173G= (p.Asp4725=) c.14158G= (p.Asp4720=) c.14188G= (p.Asp4730=) c.14104G= (p.Asp4702=) | |
| 19 | g.38577936G>T | CA405684258 | RYR1 | c.1127G>T c.2524G>T c.2496G>T c.14191G>T (p.Asp4731Tyr) c.14176G>T (p.Asp4726Tyr) c.14173G>T (p.Asp4725Tyr) c.14158G>T (p.Asp4720Tyr) c.14188G>T (p.Asp4730Tyr) c.14104G>T (p.Asp4702Tyr) | |
| 19 | g.38577937A>C | CA405684260 | RYR1 | c.1128A>C c.2525A>C c.2497A>C c.14192A>C (p.Asp4731Ala) c.14177A>C (p.Asp4726Ala) c.14174A>C (p.Asp4725Ala) c.14159A>C (p.Asp4720Ala) c.14189A>C (p.Asp4730Ala) c.14105A>C (p.Asp4702Ala) | |
| 19 | g.38577937A>G | CA405684262 | RYR1 | c.1128A>G c.2525A>G c.2497A>G c.14192A>G (p.Asp4731Gly) c.14177A>G (p.Asp4726Gly) c.14174A>G (p.Asp4725Gly) c.14159A>G (p.Asp4720Gly) c.14189A>G (p.Asp4730Gly) c.14105A>G (p.Asp4702Gly) | |
| 19 | g.38577937A>T | CA405684264 | RYR1 | c.1128A>T c.2525A>T c.2497A>T c.14192A>T (p.Asp4731Val) c.14177A>T (p.Asp4726Val) c.14174A>T (p.Asp4725Val) c.14159A>T (p.Asp4720Val) c.14189A>T (p.Asp4730Val) c.14105A>T (p.Asp4702Val) | |
| 19 | g.38577938C>A | CA405684266 | RYR1 | c.1129C>A c.2526C>A c.2498C>A c.14193C>A (p.Asp4731Glu) c.14178C>A (p.Asp4726Glu) c.14175C>A (p.Asp4725Glu) c.14160C>A (p.Asp4720Glu) c.14190C>A (p.Asp4730Glu) c.14106C>A (p.Asp4702Glu) | |
| 19 | g.38577938C>G | CA405684268 | RYR1 | c.1129C>G c.2526C>G c.2498C>G c.14193C>G (p.Asp4731Glu) c.14178C>G (p.Asp4726Glu) c.14175C>G (p.Asp4725Glu) c.14160C>G (p.Asp4720Glu) c.14190C>G (p.Asp4730Glu) c.14106C>G (p.Asp4702Glu) | |
| 19 | g.38577938C>T | CA507245733 | RYR1 | c.1129C>T c.2526C>T c.2498C>T c.14193C>T (p.Asp4731=) c.14178C>T (p.Asp4726=) c.14175C>T (p.Asp4725=) c.14160C>T (p.Asp4720=) c.14190C>T (p.Asp4730=) c.14106C>T (p.Asp4702=) | |
| 19 | g.38577939A= | CA2335091282 | RYR1 | c.1130A= c.2527A= c.2499A= c.14194A= (p.Ile4732=) c.14179A= (p.Ile4727=) c.14176A= (p.Ile4726=) c.14161A= (p.Ile4721=) c.14191A= (p.Ile4731=) c.14107A= (p.Ile4703=) | |
| 19 | g.38577939A>C | CA405684271 | RYR1 | c.1130A>C c.2527A>C c.2499A>C c.14194A>C (p.Ile4732Leu) c.14179A>C (p.Ile4727Leu) c.14176A>C (p.Ile4726Leu) c.14161A>C (p.Ile4721Leu) c.14191A>C (p.Ile4731Leu) c.14107A>C (p.Ile4703Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38577939A>G | CA405684273 | RYR1 | c.1130A>G c.2527A>G c.2499A>G c.14194A>G (p.Ile4732Val) c.14179A>G (p.Ile4727Val) c.14176A>G (p.Ile4726Val) c.14161A>G (p.Ile4721Val) c.14191A>G (p.Ile4731Val) c.14107A>G (p.Ile4703Val) | |
| 19 | g.38577939A>T | CA405684274 | RYR1 | c.1130A>T c.2527A>T c.2499A>T c.14194A>T (p.Ile4732Phe) c.14179A>T (p.Ile4727Phe) c.14176A>T (p.Ile4726Phe) c.14161A>T (p.Ile4721Phe) c.14191A>T (p.Ile4731Phe) c.14107A>T (p.Ile4703Phe) | |
| 19 | g.38577940T>A | CA405684281 | RYR1 | c.1131T>A c.2528T>A c.2500T>A c.14195T>A (p.Ile4732Asn) c.14180T>A (p.Ile4727Asn) c.14177T>A (p.Ile4726Asn) c.14162T>A (p.Ile4721Asn) c.14192T>A (p.Ile4731Asn) c.14108T>A (p.Ile4703Asn) | |
| 19 | g.38577940T>C | CA405684279 | RYR1 | c.1131T>C c.2528T>C c.2500T>C c.14195T>C (p.Ile4732Thr) c.14180T>C (p.Ile4727Thr) c.14177T>C (p.Ile4726Thr) c.14162T>C (p.Ile4721Thr) c.14192T>C (p.Ile4731Thr) c.14108T>C (p.Ile4703Thr) | gnomAD v4 |
| 19 | g.38577940T>G | CA405684278 | RYR1 | c.1131T>G c.2528T>G c.2500T>G c.14195T>G (p.Ile4732Ser) c.14180T>G (p.Ile4727Ser) c.14177T>G (p.Ile4726Ser) c.14162T>G (p.Ile4721Ser) c.14192T>G (p.Ile4731Ser) c.14108T>G (p.Ile4703Ser) | |
| 19 | g.38577941C>A | CA060981 | RYR1 | c.1132C>A c.2529C>A c.2501C>A c.14196C>A (p.Ile4732=) c.14181C>A (p.Ile4727=) c.14178C>A (p.Ile4726=) c.14163C>A (p.Ile4721=) c.14193C>A (p.Ile4731=) c.14109C>A (p.Ile4703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38577941C= | CA2335091283 | RYR1 | c.1132C= c.2529C= c.2501C= c.14196C= (p.Ile4732=) c.14181C= (p.Ile4727=) c.14178C= (p.Ile4726=) c.14163C= (p.Ile4721=) c.14193C= (p.Ile4731=) c.14109C= (p.Ile4703=) | |
| 19 | g.38577941C>G | CA405684282 | RYR1 | c.1132C>G c.2529C>G c.2501C>G c.14196C>G (p.Ile4732Met) c.14181C>G (p.Ile4727Met) c.14178C>G (p.Ile4726Met) c.14163C>G (p.Ile4721Met) c.14193C>G (p.Ile4731Met) c.14109C>G (p.Ile4703Met) | |
| 19 | g.38577941C>T | CA507245738 | RYR1 | c.1132C>T c.2529C>T c.2501C>T c.14196C>T (p.Ile4732=) c.14181C>T (p.Ile4727=) c.14178C>T (p.Ile4726=) c.14163C>T (p.Ile4721=) c.14193C>T (p.Ile4731=) c.14109C>T (p.Ile4703=) | gnomAD v4 |
| 19 | g.38577942T>A | CA405684285 | RYR1 | c.1133T>A c.2530T>A c.2502T>A c.14197T>A (p.Tyr4733Asn) c.14182T>A (p.Tyr4728Asn) c.14179T>A (p.Tyr4727Asn) c.14164T>A (p.Tyr4722Asn) c.14194T>A (p.Tyr4732Asn) c.14110T>A (p.Tyr4704Asn) | gnomAD v4 |
| 19 | g.38577942T>C | CA405684288 | RYR1 | c.1133T>C c.2530T>C c.2502T>C c.14197T>C (p.Tyr4733His) c.14182T>C (p.Tyr4728His) c.14179T>C (p.Tyr4727His) c.14164T>C (p.Tyr4722His) c.14194T>C (p.Tyr4732His) c.14110T>C (p.Tyr4704His) | gnomAD v4 |
| 19 | g.38577942T>G | CA024110 | RYR1 | c.1133T>G c.2530T>G c.2502T>G c.14197T>G (p.Tyr4733Asp) c.14182T>G (p.Tyr4728Asp) c.14179T>G (p.Tyr4727Asp) c.14164T>G (p.Tyr4722Asp) c.14194T>G (p.Tyr4732Asp) c.14110T>G (p.Tyr4704Asp) | ClinVar dbSNP |
| 19 | g.38577942T= | CA2335091284 | RYR1 | c.1133T= c.2530T= c.2502T= c.14197T= (p.Tyr4733=) c.14182T= (p.Tyr4728=) c.14179T= (p.Tyr4727=) c.14164T= (p.Tyr4722=) c.14194T= (p.Tyr4732=) c.14110T= (p.Tyr4704=) | |
| 19 | g.38577943A= | CA2335091285 | RYR1 | c.1134A= c.2531A= c.2503A= c.14198A= (p.Tyr4733=) c.14183A= (p.Tyr4728=) c.14180A= (p.Tyr4727=) c.14165A= (p.Tyr4722=) c.14195A= (p.Tyr4732=) c.14111A= (p.Tyr4704=) | |
| 19 | g.38577943A>C | CA405684291 | RYR1 | c.1134A>C c.2531A>C c.2503A>C c.14198A>C (p.Tyr4733Ser) c.14183A>C (p.Tyr4728Ser) c.14180A>C (p.Tyr4727Ser) c.14165A>C (p.Tyr4722Ser) c.14195A>C (p.Tyr4732Ser) c.14111A>C (p.Tyr4704Ser) | gnomAD v4 |
| 19 | g.38577943A>G | CA060982 | RYR1 | c.1134A>G c.2531A>G c.2503A>G c.14198A>G (p.Tyr4733Cys) c.14183A>G (p.Tyr4728Cys) c.14180A>G (p.Tyr4727Cys) c.14165A>G (p.Tyr4722Cys) c.14195A>G (p.Tyr4732Cys) c.14111A>G (p.Tyr4704Cys) | dbSNP ExAC gnomAD v2 |
| 19 | g.38577943A>T | CA405684292 | RYR1 | c.1134A>T c.2531A>T c.2503A>T c.14198A>T (p.Tyr4733Phe) c.14183A>T (p.Tyr4728Phe) c.14180A>T (p.Tyr4727Phe) c.14165A>T (p.Tyr4722Phe) c.14195A>T (p.Tyr4732Phe) c.14111A>T (p.Tyr4704Phe) | |
| 19 | g.38577944C>A | CA081136 | RYR1 | c.1135C>A c.2532C>A c.2504C>A c.14199C>A (p.Tyr4733Ter) c.14184C>A (p.Tyr4728Ter) c.14181C>A (p.Tyr4727Ter) c.14166C>A (p.Tyr4722Ter) c.14196C>A (p.Tyr4732Ter) c.14112C>A (p.Tyr4704Ter) | |
| 19 | g.38577944C= | CA2335091286 | RYR1 | c.1135C= c.2532C= c.2504C= c.14199C= (p.Tyr4733=) c.14184C= (p.Tyr4728=) c.14181C= (p.Tyr4727=) c.14166C= (p.Tyr4722=) c.14196C= (p.Tyr4732=) c.14112C= (p.Tyr4704=) | |
| 19 | g.38577944C>G | CA405684293 | RYR1 | c.1135C>G c.2532C>G c.2504C>G c.14199C>G (p.Tyr4733Ter) c.14184C>G (p.Tyr4728Ter) c.14181C>G (p.Tyr4727Ter) c.14166C>G (p.Tyr4722Ter) c.14196C>G (p.Tyr4732Ter) c.14112C>G (p.Tyr4704Ter) | |
| 19 | g.38577944C>T | CA308120098 | RYR1 | c.1135C>T c.2532C>T c.2504C>T c.14199C>T (p.Tyr4733=) c.14184C>T (p.Tyr4728=) c.14181C>T (p.Tyr4727=) c.14166C>T (p.Tyr4722=) c.14196C>T (p.Tyr4732=) c.14112C>T (p.Tyr4704=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38577945G>A | CA405684294 | RYR1 | c.1136G>A c.2533G>A c.2505G>A c.14200G>A (p.Gly4734Arg) c.14185G>A (p.Gly4729Arg) c.14182G>A (p.Gly4728Arg) c.14167G>A (p.Gly4723Arg) c.14197G>A (p.Gly4733Arg) c.14113G>A (p.Gly4705Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38577945G>C | CA405684295 | RYR1 | c.1136G>C c.2533G>C c.2505G>C c.14200G>C (p.Gly4734Arg) c.14185G>C (p.Gly4729Arg) c.14182G>C (p.Gly4728Arg) c.14167G>C (p.Gly4723Arg) c.14197G>C (p.Gly4733Arg) c.14113G>C (p.Gly4705Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38577945G= | CA2335091287 | RYR1 | c.1136G= c.2533G= c.2505G= c.14200G= (p.Gly4734=) c.14185G= (p.Gly4729=) c.14182G= (p.Gly4728=) c.14167G= (p.Gly4723=) c.14197G= (p.Gly4733=) c.14113G= (p.Gly4705=) | |
| 19 | g.38577945G>T | CA405684296 | RYR1 | c.1136G>T c.2533G>T c.2505G>T c.14200G>T (p.Gly4734Trp) c.14185G>T (p.Gly4729Trp) c.14182G>T (p.Gly4728Trp) c.14167G>T (p.Gly4723Trp) c.14197G>T (p.Gly4733Trp) c.14113G>T (p.Gly4705Trp) | |
| 19 | g.38577946G>A | CA024112 | RYR1 | c.1137G>A c.2534G>A c.2506G>A c.14201G>A (p.Gly4734Glu) c.14186G>A (p.Gly4729Glu) c.14183G>A (p.Gly4728Glu) c.14168G>A (p.Gly4723Glu) c.14198G>A (p.Gly4733Glu) c.14114G>A (p.Gly4705Glu) | ClinVar dbSNP |
| 19 | g.38577946G>C | CA405684297 | RYR1 | c.1137G>C c.2534G>C c.2506G>C c.14201G>C (p.Gly4734Ala) c.14186G>C (p.Gly4729Ala) c.14183G>C (p.Gly4728Ala) c.14168G>C (p.Gly4723Ala) c.14198G>C (p.Gly4733Ala) c.14114G>C (p.Gly4705Ala) | |
| 19 | g.38577946G= | CA2335091288 | RYR1 | c.1137G= c.2534G= c.2506G= c.14201G= (p.Gly4734=) c.14186G= (p.Gly4729=) c.14183G= (p.Gly4728=) c.14168G= (p.Gly4723=) c.14198G= (p.Gly4733=) c.14114G= (p.Gly4705=) | |
| 19 | g.38577946G>T | CA405684302 | RYR1 | c.1137G>T c.2534G>T c.2506G>T c.14201G>T (p.Gly4734Val) c.14186G>T (p.Gly4729Val) c.14183G>T (p.Gly4728Val) c.14168G>T (p.Gly4723Val) c.14198G>T (p.Gly4733Val) c.14114G>T (p.Gly4705Val) | dbSNP gnomAD v4 |
| 19 | g.38577947G>A | CA507245747 | RYR1 | c.1138G>A c.2535G>A c.2507G>A c.14202G>A (p.Gly4734=) c.14187G>A (p.Gly4729=) c.14184G>A (p.Gly4728=) c.14169G>A (p.Gly4723=) c.14199G>A (p.Gly4733=) c.14115G>A (p.Gly4705=) | |
| 19 | g.38577947G>C | CA507245749 | RYR1 | c.1138G>C c.2535G>C c.2507G>C c.14202G>C (p.Gly4734=) c.14187G>C (p.Gly4729=) c.14184G>C (p.Gly4728=) c.14169G>C (p.Gly4723=) c.14199G>C (p.Gly4733=) c.14115G>C (p.Gly4705=) | |
| 19 | g.38577947G>T | CA507245750 | RYR1 | c.1138G>T c.2535G>T c.2507G>T c.14202G>T (p.Gly4734=) c.14187G>T (p.Gly4729=) c.14184G>T (p.Gly4728=) c.14169G>T (p.Gly4723=) c.14199G>T (p.Gly4733=) c.14115G>T (p.Gly4705=) | |
| 19 | g.38577948C>A | CA507245751 | RYR1 | c.1139C>A c.2536C>A c.2508C>A c.14203C>A (p.Arg4735=) c.14188C>A (p.Arg4730=) c.14185C>A (p.Arg4729=) c.14170C>A (p.Arg4724=) c.14200C>A (p.Arg4734=) c.14116C>A (p.Arg4706=) | gnomAD v4 |
| 19 | g.38577948C= | CA2335091289 | RYR1 | c.1139C= c.2536C= c.2508C= c.14203C= (p.Arg4735=) c.14188C= (p.Arg4730=) c.14185C= (p.Arg4729=) c.14170C= (p.Arg4724=) c.14200C= (p.Arg4734=) c.14116C= (p.Arg4706=) | |
| 19 | g.38577948C>G | CA405684305 | RYR1 | c.1139C>G c.2536C>G c.2508C>G c.14203C>G (p.Arg4735Gly) c.14188C>G (p.Arg4730Gly) c.14185C>G (p.Arg4729Gly) c.14170C>G (p.Arg4724Gly) c.14200C>G (p.Arg4734Gly) c.14116C>G (p.Arg4706Gly) | gnomAD v4 |
| 19 | g.38577948C>T | CA024114 | RYR1 | c.1139C>T c.2536C>T c.2508C>T c.14203C>T (p.Arg4735Trp) c.14188C>T (p.Arg4730Trp) c.14185C>T (p.Arg4729Trp) c.14170C>T (p.Arg4724Trp) c.14200C>T (p.Arg4734Trp) c.14116C>T (p.Arg4706Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38577949G>A | CA060986 | RYR1 | c.1140G>A c.2537G>A c.2509G>A c.14204G>A (p.Arg4735Gln) c.14189G>A (p.Arg4730Gln) c.14186G>A (p.Arg4729Gln) c.14171G>A (p.Arg4724Gln) c.14201G>A (p.Arg4734Gln) c.14117G>A (p.Arg4706Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38577949G>C | CA081121 | RYR1 | c.1140G>C c.2537G>C c.2509G>C c.14204G>C (p.Arg4735Pro) c.14189G>C (p.Arg4730Pro) c.14186G>C (p.Arg4729Pro) c.14171G>C (p.Arg4724Pro) c.14201G>C (p.Arg4734Pro) c.14117G>C (p.Arg4706Pro) | |
| 19 | g.38577949G= | CA2335091290 | RYR1 | c.1140G= c.2537G= c.2509G= c.14204G= (p.Arg4735=) c.14189G= (p.Arg4730=) c.14186G= (p.Arg4729=) c.14171G= (p.Arg4724=) c.14201G= (p.Arg4734=) c.14117G= (p.Arg4706=) | |
| 19 | g.38577949G>T | CA405684312 | RYR1 | c.1140G>T c.2537G>T c.2509G>T c.14204G>T (p.Arg4735Leu) c.14189G>T (p.Arg4730Leu) c.14186G>T (p.Arg4729Leu) c.14171G>T (p.Arg4724Leu) c.14201G>T (p.Arg4734Leu) c.14117G>T (p.Arg4706Leu) | |
| 19 | g.38577950G>A | CA507245753 | RYR1 | c.1141G>A c.2538G>A c.2510G>A c.14205G>A (p.Arg4735=) c.14190G>A (p.Arg4730=) c.14187G>A (p.Arg4729=) c.14172G>A (p.Arg4724=) c.14202G>A (p.Arg4734=) c.14118G>A (p.Arg4706=) | |
| 19 | g.38577950G>C | CA081122 | RYR1 | c.1141G>C c.2538G>C c.2510G>C c.14205G>C (p.Arg4735=) c.14190G>C (p.Arg4730=) c.14187G>C (p.Arg4729=) c.14172G>C (p.Arg4724=) c.14202G>C (p.Arg4734=) c.14118G>C (p.Arg4706=) | |
| 19 | g.38577950G>T | CA507245755 | RYR1 | c.1141G>T c.2538G>T c.2510G>T c.14205G>T (p.Arg4735=) c.14190G>T (p.Arg4730=) c.14187G>T (p.Arg4729=) c.14172G>T (p.Arg4724=) c.14202G>T (p.Arg4734=) c.14118G>T (p.Arg4706=) | |
| 19 | g.38577951G>A | CA405684319 | RYR1 | c.1142G>A c.2539G>A c.2511G>A c.14206G>A (p.Glu4736Lys) c.14191G>A (p.Glu4731Lys) c.14188G>A (p.Glu4730Lys) c.14173G>A (p.Glu4725Lys) c.14203G>A (p.Glu4735Lys) c.14119G>A (p.Glu4707Lys) | dbSNP |
| 19 | g.38577951G>C | CA405684314 | RYR1 | c.1142G>C c.2539G>C c.2511G>C c.14206G>C (p.Glu4736Gln) c.14191G>C (p.Glu4731Gln) c.14188G>C (p.Glu4730Gln) c.14173G>C (p.Glu4725Gln) c.14203G>C (p.Glu4735Gln) c.14119G>C (p.Glu4707Gln) | |
| 19 | g.38577951G= | CA2335091291 | RYR1 | c.1142G= c.2539G= c.2511G= c.14206G= (p.Glu4736=) c.14191G= (p.Glu4731=) c.14188G= (p.Glu4730=) c.14173G= (p.Glu4725=) c.14203G= (p.Glu4735=) c.14119G= (p.Glu4707=) | |
| 19 | g.38577951G>T | CA405684316 | RYR1 | c.1142G>T c.2539G>T c.2511G>T c.14206G>T (p.Glu4736Ter) c.14191G>T (p.Glu4731Ter) c.14188G>T (p.Glu4730Ter) c.14173G>T (p.Glu4725Ter) c.14203G>T (p.Glu4735Ter) c.14119G>T (p.Glu4707Ter) | |
| 19 | g.38577952A>C | CA405684323 | RYR1 | c.1143A>C c.2540A>C c.2512A>C c.14207A>C (p.Glu4736Ala) c.14192A>C (p.Glu4731Ala) c.14189A>C (p.Glu4730Ala) c.14174A>C (p.Glu4725Ala) c.14204A>C (p.Glu4735Ala) c.14120A>C (p.Glu4707Ala) | |
| 19 | g.38577952A>G | CA405684326 | RYR1 | c.1143A>G c.2540A>G c.2512A>G c.14207A>G (p.Glu4736Gly) c.14192A>G (p.Glu4731Gly) c.14189A>G (p.Glu4730Gly) c.14174A>G (p.Glu4725Gly) c.14204A>G (p.Glu4735Gly) c.14120A>G (p.Glu4707Gly) | |
| 19 | g.38577952A>T | CA405684328 | RYR1 | c.1143A>T c.2540A>T c.2512A>T c.14207A>T (p.Glu4736Val) c.14192A>T (p.Glu4731Val) c.14189A>T (p.Glu4730Val) c.14174A>T (p.Glu4725Val) c.14204A>T (p.Glu4735Val) c.14120A>T (p.Glu4707Val) | |
| 19 | g.38577953G>A | CA507245757 | RYR1 | c.1144G>A c.2541G>A c.2513G>A c.14208G>A (p.Glu4736=) c.14193G>A (p.Glu4731=) c.14190G>A (p.Glu4730=) c.14175G>A (p.Glu4725=) c.14205G>A (p.Glu4735=) c.14121G>A (p.Glu4707=) | |
| 19 | g.38577953G>C | CA405684331 | RYR1 | c.1144G>C c.2541G>C c.2513G>C c.14208G>C (p.Glu4736Asp) c.14193G>C (p.Glu4731Asp) c.14190G>C (p.Glu4730Asp) c.14175G>C (p.Glu4725Asp) c.14205G>C (p.Glu4735Asp) c.14121G>C (p.Glu4707Asp) | |
| 19 | g.38577953G>T | CA405684332 | RYR1 | c.1144G>T c.2541G>T c.2513G>T c.14208G>T (p.Glu4736Asp) c.14193G>T (p.Glu4731Asp) c.14190G>T (p.Glu4730Asp) c.14175G>T (p.Glu4725Asp) c.14205G>T (p.Glu4735Asp) c.14121G>T (p.Glu4707Asp) | |
| 19 | g.38577954C>A | CA507245761 | RYR1 | c.1145C>A c.2542C>A c.2514C>A c.14209C>A (p.Arg4737=) c.14194C>A (p.Arg4732=) c.14191C>A (p.Arg4731=) c.14176C>A (p.Arg4726=) c.14206C>A (p.Arg4736=) c.14122C>A (p.Arg4708=) | |
| 19 | g.38577954C= | CA2335091292 | RYR1 | c.1145C= c.2542C= c.2514C= c.14209C= (p.Arg4737=) c.14194C= (p.Arg4732=) c.14191C= (p.Arg4731=) c.14176C= (p.Arg4726=) c.14206C= (p.Arg4736=) c.14122C= (p.Arg4708=) | |
| 19 | g.38577954C>G | CA405684334 | RYR1 | c.1145C>G c.2542C>G c.2514C>G c.14209C>G (p.Arg4737Gly) c.14194C>G (p.Arg4732Gly) c.14191C>G (p.Arg4731Gly) c.14176C>G (p.Arg4726Gly) c.14206C>G (p.Arg4736Gly) c.14122C>G (p.Arg4708Gly) | |
| 19 | g.38577954C>T | CA024116 | RYR1 | c.1145C>T c.2542C>T c.2514C>T c.14209C>T (p.Arg4737Trp) c.14194C>T (p.Arg4732Trp) c.14191C>T (p.Arg4731Trp) c.14176C>T (p.Arg4726Trp) c.14206C>T (p.Arg4736Trp) c.14122C>T (p.Arg4708Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38577955G>A | CA024118 | RYR1 | c.1146G>A c.2543G>A c.2515G>A c.14210G>A (p.Arg4737Gln) c.14195G>A (p.Arg4732Gln) c.14192G>A (p.Arg4731Gln) c.14177G>A (p.Arg4726Gln) c.14207G>A (p.Arg4736Gln) c.14123G>A (p.Arg4708Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38577955G>C | CA405684342 | RYR1 | c.1146G>C c.2543G>C c.2515G>C c.14210G>C (p.Arg4737Pro) c.14195G>C (p.Arg4732Pro) c.14192G>C (p.Arg4731Pro) c.14177G>C (p.Arg4726Pro) c.14207G>C (p.Arg4736Pro) c.14123G>C (p.Arg4708Pro) | |
| 19 | g.38577955G= | CA2335091293 | RYR1 | c.1146G= c.2543G= c.2515G= c.14210G= (p.Arg4737=) c.14195G= (p.Arg4732=) c.14192G= (p.Arg4731=) c.14177G= (p.Arg4726=) c.14207G= (p.Arg4736=) c.14123G= (p.Arg4708=) | |
| 19 | g.38577955G>T | CA405684345 | RYR1 | c.1146G>T c.2543G>T c.2515G>T c.14210G>T (p.Arg4737Leu) c.14195G>T (p.Arg4732Leu) c.14192G>T (p.Arg4731Leu) c.14177G>T (p.Arg4726Leu) c.14207G>T (p.Arg4736Leu) c.14123G>T (p.Arg4708Leu) | |
| 19 | g.38577956G>A | CA507245762 | RYR1 | c.1147G>A c.2544G>A c.2516G>A c.14211G>A (p.Arg4737=) c.14196G>A (p.Arg4732=) c.14193G>A (p.Arg4731=) c.14178G>A (p.Arg4726=) c.14208G>A (p.Arg4736=) c.14124G>A (p.Arg4708=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38577956G>C | CA507245763 | RYR1 | c.1147G>C c.2544G>C c.2516G>C c.14211G>C (p.Arg4737=) c.14196G>C (p.Arg4732=) c.14193G>C (p.Arg4731=) c.14178G>C (p.Arg4726=) c.14208G>C (p.Arg4736=) c.14124G>C (p.Arg4708=) | |
| 19 | g.38577956G= | CA2335091294 | RYR1 | c.1147G= c.2544G= c.2516G= c.14211G= (p.Arg4737=) c.14196G= (p.Arg4732=) c.14193G= (p.Arg4731=) c.14178G= (p.Arg4726=) c.14208G= (p.Arg4736=) c.14124G= (p.Arg4708=) | |
| 19 | g.38577956G>T | CA507245764 | RYR1 | c.1147G>T c.2544G>T c.2516G>T c.14211G>T (p.Arg4737=) c.14196G>T (p.Arg4732=) c.14193G>T (p.Arg4731=) c.14178G>T (p.Arg4726=) c.14208G>T (p.Arg4736=) c.14124G>T (p.Arg4708=) | |
| 19 | g.38577957A>C | CA405684349 | RYR1 | c.1148A>C c.2545A>C c.2517A>C c.14212A>C (p.Ile4738Leu) c.14197A>C (p.Ile4733Leu) c.14194A>C (p.Ile4732Leu) c.14179A>C (p.Ile4727Leu) c.14209A>C (p.Ile4737Leu) c.14125A>C (p.Ile4709Leu) | |
| 19 | g.38577957A>G | CA405684353 | RYR1 | c.1148A>G c.2545A>G c.2517A>G c.14212A>G (p.Ile4738Val) c.14197A>G (p.Ile4733Val) c.14194A>G (p.Ile4732Val) c.14179A>G (p.Ile4727Val) c.14209A>G (p.Ile4737Val) c.14125A>G (p.Ile4709Val) | |
| 19 | g.38577957A>T | CA405684347 | RYR1 | c.1148A>T c.2545A>T c.2517A>T c.14212A>T (p.Ile4738Phe) c.14197A>T (p.Ile4733Phe) c.14194A>T (p.Ile4732Phe) c.14179A>T (p.Ile4727Phe) c.14209A>T (p.Ile4737Phe) c.14125A>T (p.Ile4709Phe) | |
| 19 | g.38577958T>A | CA405684356 | RYR1 | c.1149T>A c.2546T>A c.2518T>A c.14213T>A (p.Ile4738Asn) c.14198T>A (p.Ile4733Asn) c.14195T>A (p.Ile4732Asn) c.14180T>A (p.Ile4727Asn) c.14210T>A (p.Ile4737Asn) c.14126T>A (p.Ile4709Asn) | |
| 19 | g.38577958T>C | CA405684359 | RYR1 | c.1149T>C c.2546T>C c.2518T>C c.14213T>C (p.Ile4738Thr) c.14198T>C (p.Ile4733Thr) c.14195T>C (p.Ile4732Thr) c.14180T>C (p.Ile4727Thr) c.14210T>C (p.Ile4737Thr) c.14126T>C (p.Ile4709Thr) | |
| 19 | g.38577958T>G | CA405684360 | RYR1 | c.1149T>G c.2546T>G c.2518T>G c.14213T>G (p.Ile4738Ser) c.14198T>G (p.Ile4733Ser) c.14195T>G (p.Ile4732Ser) c.14180T>G (p.Ile4727Ser) c.14210T>G (p.Ile4737Ser) c.14126T>G (p.Ile4709Ser) | |
| 19 | g.38577959T>A | CA507245768 | RYR1 | c.1150T>A c.2547T>A c.2519T>A c.14214T>A (p.Ile4738=) c.14199T>A (p.Ile4733=) c.14196T>A (p.Ile4732=) c.14181T>A (p.Ile4727=) c.14211T>A (p.Ile4737=) c.14127T>A (p.Ile4709=) | |
| 19 | g.38577959T>C | CA507245769 | RYR1 | c.1150T>C c.2547T>C c.2519T>C c.14214T>C (p.Ile4738=) c.14199T>C (p.Ile4733=) c.14196T>C (p.Ile4732=) c.14181T>C (p.Ile4727=) c.14211T>C (p.Ile4737=) c.14127T>C (p.Ile4709=) | |
| 19 | g.38577959T>G | CA405684363 | RYR1 | c.1150T>G c.2547T>G c.2519T>G c.14214T>G (p.Ile4738Met) c.14199T>G (p.Ile4733Met) c.14196T>G (p.Ile4732Met) c.14181T>G (p.Ile4727Met) c.14211T>G (p.Ile4737Met) c.14127T>G (p.Ile4709Met) | |
| 19 | g.38577960G>A | CA405684379 | RYR1 | c.1151G>A c.2548G>A c.2520G>A c.14215G>A (p.Ala4739Thr) c.14200G>A (p.Ala4734Thr) c.14197G>A (p.Ala4733Thr) c.14182G>A (p.Ala4728Thr) c.14212G>A (p.Ala4738Thr) c.14128G>A (p.Ala4710Thr) | |
| 19 | g.38577960G>C | CA405684375 | RYR1 | c.1151G>C c.2548G>C c.2520G>C c.14215G>C (p.Ala4739Pro) c.14200G>C (p.Ala4734Pro) c.14197G>C (p.Ala4733Pro) c.14182G>C (p.Ala4728Pro) c.14212G>C (p.Ala4738Pro) c.14128G>C (p.Ala4710Pro) | |
| 19 | g.38577960G>T | CA405684373 | RYR1 | c.1151G>T c.2548G>T c.2520G>T c.14215G>T (p.Ala4739Ser) c.14200G>T (p.Ala4734Ser) c.14197G>T (p.Ala4733Ser) c.14182G>T (p.Ala4728Ser) c.14212G>T (p.Ala4738Ser) c.14128G>T (p.Ala4710Ser) | |
| 19 | g.38577961C>A | CA405684383 | RYR1 | c.1152C>A c.2549C>A c.2521C>A c.14216C>A (p.Ala4739Asp) c.14201C>A (p.Ala4734Asp) c.14198C>A (p.Ala4733Asp) c.14183C>A (p.Ala4728Asp) c.14213C>A (p.Ala4738Asp) c.14129C>A (p.Ala4710Asp) | |
| 19 | g.38577961C>G | CA405684388 | RYR1 | c.1152C>G c.2549C>G c.2521C>G c.14216C>G (p.Ala4739Gly) c.14201C>G (p.Ala4734Gly) c.14198C>G (p.Ala4733Gly) c.14183C>G (p.Ala4728Gly) c.14213C>G (p.Ala4738Gly) c.14129C>G (p.Ala4710Gly) | gnomAD v4 |
| 19 | g.38577961C>T | CA405684391 | RYR1 | c.1152C>T c.2549C>T c.2521C>T c.14216C>T (p.Ala4739Val) c.14201C>T (p.Ala4734Val) c.14198C>T (p.Ala4733Val) c.14183C>T (p.Ala4728Val) c.14213C>T (p.Ala4738Val) c.14129C>T (p.Ala4710Val) | |
| 19 | g.38577962T>A | CA507245775 | RYR1 | c.1153T>A c.2550T>A c.2522T>A c.14217T>A (p.Ala4739=) c.14202T>A (p.Ala4734=) c.14199T>A (p.Ala4733=) c.14184T>A (p.Ala4728=) c.14214T>A (p.Ala4738=) c.14130T>A (p.Ala4710=) | |
| 19 | g.38577962T>C | CA507245773 | RYR1 | c.1153T>C c.2550T>C c.2522T>C c.14217T>C (p.Ala4739=) c.14202T>C (p.Ala4734=) c.14199T>C (p.Ala4733=) c.14184T>C (p.Ala4728=) c.14214T>C (p.Ala4738=) c.14130T>C (p.Ala4710=) | |
| 19 | g.38577962T>G | CA507245774 | RYR1 | c.1153T>G c.2550T>G c.2522T>G c.14217T>G (p.Ala4739=) c.14202T>G (p.Ala4734=) c.14199T>G (p.Ala4733=) c.14184T>G (p.Ala4728=) c.14214T>G (p.Ala4738=) c.14130T>G (p.Ala4710=) | |
| 19 | g.38577963G>A | CA405684392 | RYR1 | c.1154G>A c.2551G>A c.2523G>A c.14218G>A (p.Glu4740Lys) c.14203G>A (p.Glu4735Lys) c.14200G>A (p.Glu4734Lys) c.14185G>A (p.Glu4729Lys) c.14215G>A (p.Glu4739Lys) c.14131G>A (p.Glu4711Lys) | gnomAD v4 |
| 19 | g.38577963G>C | CA405684394 | RYR1 | c.1154G>C c.2551G>C c.2523G>C c.14218G>C (p.Glu4740Gln) c.14203G>C (p.Glu4735Gln) c.14200G>C (p.Glu4734Gln) c.14185G>C (p.Glu4729Gln) c.14215G>C (p.Glu4739Gln) c.14131G>C (p.Glu4711Gln) | |
| 19 | g.38577963G>T | CA405684397 | RYR1 | c.1154G>T c.2551G>T c.2523G>T c.14218G>T (p.Glu4740Ter) c.14203G>T (p.Glu4735Ter) c.14200G>T (p.Glu4734Ter) c.14185G>T (p.Glu4729Ter) c.14215G>T (p.Glu4739Ter) c.14131G>T (p.Glu4711Ter) | |
| 19 | g.38577964A>C | CA405684409 | RYR1 | c.1155A>C c.2552A>C c.2524A>C c.14219A>C (p.Glu4740Ala) c.14204A>C (p.Glu4735Ala) c.14201A>C (p.Glu4734Ala) c.14186A>C (p.Glu4729Ala) c.14216A>C (p.Glu4739Ala) c.14132A>C (p.Glu4711Ala) | |
| 19 | g.38577964A>G | CA405684414 | RYR1 | c.1155A>G c.2552A>G c.2524A>G c.14219A>G (p.Glu4740Gly) c.14204A>G (p.Glu4735Gly) c.14201A>G (p.Glu4734Gly) c.14186A>G (p.Glu4729Gly) c.14216A>G (p.Glu4739Gly) c.14132A>G (p.Glu4711Gly) | |
| 19 | g.38577964A>T | CA405684411 | RYR1 | c.1155A>T c.2552A>T c.2524A>T c.14219A>T (p.Glu4740Val) c.14204A>T (p.Glu4735Val) c.14201A>T (p.Glu4734Val) c.14186A>T (p.Glu4729Val) c.14216A>T (p.Glu4739Val) c.14132A>T (p.Glu4711Val) | |
| 19 | g.38577965G>A | CA507245781 | RYR1 | c.1156G>A c.2553G>A c.2525G>A c.14220G>A (p.Glu4740=) c.14205G>A (p.Glu4735=) c.14202G>A (p.Glu4734=) c.14187G>A (p.Glu4729=) c.14217G>A (p.Glu4739=) c.14133G>A (p.Glu4711=) | gnomAD v4 |
| 19 | g.38577965G>C | CA405684415 | RYR1 | c.1156G>C c.2553G>C c.2525G>C c.14220G>C (p.Glu4740Asp) c.14205G>C (p.Glu4735Asp) c.14202G>C (p.Glu4734Asp) c.14187G>C (p.Glu4729Asp) c.14217G>C (p.Glu4739Asp) c.14133G>C (p.Glu4711Asp) | dbSNP |
| 19 | g.38577965G= | CA2335091295 | RYR1 | c.1156G= c.2553G= c.2525G= c.14220G= (p.Glu4740=) c.14205G= (p.Glu4735=) c.14202G= (p.Glu4734=) c.14187G= (p.Glu4729=) c.14217G= (p.Glu4739=) c.14133G= (p.Glu4711=) | |
| 19 | g.38577965G>T | CA405684417 | RYR1 | c.1156G>T c.2553G>T c.2525G>T c.14220G>T (p.Glu4740Asp) c.14205G>T (p.Glu4735Asp) c.14202G>T (p.Glu4734Asp) c.14187G>T (p.Glu4729Asp) c.14217G>T (p.Glu4739Asp) c.14133G>T (p.Glu4711Asp) | |
| 19 | g.38577966C>A | CA405684419 | RYR1 | c.1157C>A c.2554C>A c.2526C>A c.14221C>A (p.Leu4741Ile) c.14206C>A (p.Leu4736Ile) c.14203C>A (p.Leu4735Ile) c.14188C>A (p.Leu4730Ile) c.14218C>A (p.Leu4740Ile) c.14134C>A (p.Leu4712Ile) | |
| 19 | g.38577966C= | CA2335091296 | RYR1 | c.1157C= c.2554C= c.2526C= c.14221C= (p.Leu4741=) c.14206C= (p.Leu4736=) c.14203C= (p.Leu4735=) c.14188C= (p.Leu4730=) c.14218C= (p.Leu4740=) c.14134C= (p.Leu4712=) | |
| 19 | g.38577966C>G | CA405684422 | RYR1 | c.1157C>G c.2554C>G c.2526C>G c.14221C>G (p.Leu4741Val) c.14206C>G (p.Leu4736Val) c.14203C>G (p.Leu4735Val) c.14188C>G (p.Leu4730Val) c.14218C>G (p.Leu4740Val) c.14134C>G (p.Leu4712Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38577966C>T | CA507245784 | RYR1 | c.1157C>T c.2554C>T c.2526C>T c.14221C>T (p.Leu4741=) c.14206C>T (p.Leu4736=) c.14203C>T (p.Leu4735=) c.14188C>T (p.Leu4730=) c.14218C>T (p.Leu4740=) c.14134C>T (p.Leu4712=) | |
| 19 | g.38577967T>A | CA405684425 | RYR1 | c.1158T>A c.2555T>A c.2527T>A c.14222T>A (p.Leu4741Gln) c.14207T>A (p.Leu4736Gln) c.14204T>A (p.Leu4735Gln) c.14189T>A (p.Leu4730Gln) c.14219T>A (p.Leu4740Gln) c.14135T>A (p.Leu4712Gln) | |
| 19 | g.38577967T>C | CA405684428 | RYR1 | c.1158T>C c.2555T>C c.2527T>C c.14222T>C (p.Leu4741Pro) c.14207T>C (p.Leu4736Pro) c.14204T>C (p.Leu4735Pro) c.14189T>C (p.Leu4730Pro) c.14219T>C (p.Leu4740Pro) c.14135T>C (p.Leu4712Pro) | |
| 19 | g.38577967T>G | CA405684430 | RYR1 | c.1158T>G c.2555T>G c.2527T>G c.14222T>G (p.Leu4741Arg) c.14207T>G (p.Leu4736Arg) c.14204T>G (p.Leu4735Arg) c.14189T>G (p.Leu4730Arg) c.14219T>G (p.Leu4740Arg) c.14135T>G (p.Leu4712Arg) | |
| 19 | g.38577968A= | CA2335091297 | RYR1 | c.1159A= c.2556A= c.2528A= c.14223A= (p.Leu4741=) c.14208A= (p.Leu4736=) c.14205A= (p.Leu4735=) c.14190A= (p.Leu4730=) c.14220A= (p.Leu4740=) c.14136A= (p.Leu4712=) | |
| 19 | g.38577968A>C | CA507245788 | RYR1 | c.1159A>C c.2556A>C c.2528A>C c.14223A>C (p.Leu4741=) c.14208A>C (p.Leu4736=) c.14205A>C (p.Leu4735=) c.14190A>C (p.Leu4730=) c.14220A>C (p.Leu4740=) c.14136A>C (p.Leu4712=) | |
| 19 | g.38577968A>G | CA507245791 | RYR1 | c.1159A>G c.2556A>G c.2528A>G c.14223A>G (p.Leu4741=) c.14208A>G (p.Leu4736=) c.14205A>G (p.Leu4735=) c.14190A>G (p.Leu4730=) c.14220A>G (p.Leu4740=) c.14136A>G (p.Leu4712=) | dbSNP |
| 19 | g.38577968A>T | CA507245790 | RYR1 | c.1159A>T c.2556A>T c.2528A>T c.14223A>T (p.Leu4741=) c.14208A>T (p.Leu4736=) c.14205A>T (p.Leu4735=) c.14190A>T (p.Leu4730=) c.14220A>T (p.Leu4740=) c.14136A>T (p.Leu4712=) | |
| 19 | g.38577969C>A | CA405684434 | RYR1 | c.1160C>A c.2557C>A c.2529C>A c.14224C>A (p.Leu4742Met) c.14209C>A (p.Leu4737Met) c.14206C>A (p.Leu4736Met) c.14191C>A (p.Leu4731Met) c.14221C>A (p.Leu4741Met) c.14137C>A (p.Leu4713Met) | |
| 19 | g.38577969C>G | CA405684437 | RYR1 | c.1160C>G c.2557C>G c.2529C>G c.14224C>G (p.Leu4742Val) c.14209C>G (p.Leu4737Val) c.14206C>G (p.Leu4736Val) c.14191C>G (p.Leu4731Val) c.14221C>G (p.Leu4741Val) c.14137C>G (p.Leu4713Val) | |
| 19 | g.38577969C>T | CA507245860 | RYR1 | c.1160C>T c.2557C>T c.2529C>T c.14224C>T (p.Leu4742=) c.14209C>T (p.Leu4737=) c.14206C>T (p.Leu4736=) c.14191C>T (p.Leu4731=) c.14221C>T (p.Leu4741=) c.14137C>T (p.Leu4713=) | ClinVar gnomAD v4 |
| 19 | g.38577970T>A | CA405684440 | RYR1 | c.1161T>A c.2558T>A c.2530T>A c.14225T>A (p.Leu4742Gln) c.14210T>A (p.Leu4737Gln) c.14207T>A (p.Leu4736Gln) c.14192T>A (p.Leu4731Gln) c.14222T>A (p.Leu4741Gln) c.14138T>A (p.Leu4713Gln) | |
| 19 | g.38577970T>C | CA405684442 | RYR1 | c.1161T>C c.2558T>C c.2530T>C c.14225T>C (p.Leu4742Pro) c.14210T>C (p.Leu4737Pro) c.14207T>C (p.Leu4736Pro) c.14192T>C (p.Leu4731Pro) c.14222T>C (p.Leu4741Pro) c.14138T>C (p.Leu4713Pro) | |
| 19 | g.38577970T>G | CA405684444 | RYR1 | c.1161T>G c.2558T>G c.2530T>G c.14225T>G (p.Leu4742Arg) c.14210T>G (p.Leu4737Arg) c.14207T>G (p.Leu4736Arg) c.14192T>G (p.Leu4731Arg) c.14222T>G (p.Leu4741Arg) c.14138T>G (p.Leu4713Arg) | |
| 19 | g.38577971G>A | CA507245861 | RYR1 | c.1162G>A c.2559G>A c.2531G>A c.14226G>A (p.Leu4742=) c.14211G>A (p.Leu4737=) c.14208G>A (p.Leu4736=) c.14193G>A (p.Leu4731=) c.14223G>A (p.Leu4741=) c.14139G>A (p.Leu4713=) | |
| 19 | g.38577971G>C | CA507245862 | RYR1 | c.1162G>C c.2559G>C c.2531G>C c.14226G>C (p.Leu4742=) c.14211G>C (p.Leu4737=) c.14208G>C (p.Leu4736=) c.14193G>C (p.Leu4731=) c.14223G>C (p.Leu4741=) c.14139G>C (p.Leu4713=) | |
| 19 | g.38577971G>T | CA507245863 | RYR1 | c.1162G>T c.2559G>T c.2531G>T c.14226G>T (p.Leu4742=) c.14211G>T (p.Leu4737=) c.14208G>T (p.Leu4736=) c.14193G>T (p.Leu4731=) c.14223G>T (p.Leu4741=) c.14139G>T (p.Leu4713=) | |
| 19 | g.38577972G>A | CA405684455 | RYR1 | c.1163G>A c.2560G>A c.2532G>A c.14227G>A (p.Gly4743Ser) c.14212G>A (p.Gly4738Ser) c.14209G>A (p.Gly4737Ser) c.14194G>A (p.Gly4732Ser) c.14224G>A (p.Gly4742Ser) c.14140G>A (p.Gly4714Ser) | ClinVar dbSNP |
| 19 | g.38577972G>C | CA405684453 | RYR1 | c.1163G>C c.2560G>C c.2532G>C c.14227G>C (p.Gly4743Arg) c.14212G>C (p.Gly4738Arg) c.14209G>C (p.Gly4737Arg) c.14194G>C (p.Gly4732Arg) c.14224G>C (p.Gly4742Arg) c.14140G>C (p.Gly4714Arg) | |
| 19 | g.38577972G>T | CA405684451 | RYR1 | c.1163G>T c.2560G>T c.2532G>T c.14227G>T (p.Gly4743Cys) c.14212G>T (p.Gly4738Cys) c.14209G>T (p.Gly4737Cys) c.14194G>T (p.Gly4732Cys) c.14224G>T (p.Gly4742Cys) c.14140G>T (p.Gly4714Cys) | |
| 19 | g.38577973G>A | CA024120 | RYR1 | c.1164G>A c.2561G>A c.2533G>A c.14228G>A (p.Gly4743Asp) c.14213G>A (p.Gly4738Asp) c.14210G>A (p.Gly4737Asp) c.14195G>A (p.Gly4732Asp) c.14225G>A (p.Gly4742Asp) c.14141G>A (p.Gly4714Asp) | ClinVar dbSNP |
| 19 | g.38577973G>C | CA405684459 | RYR1 | c.1164G>C c.2561G>C c.2533G>C c.14228G>C (p.Gly4743Ala) c.14213G>C (p.Gly4738Ala) c.14210G>C (p.Gly4737Ala) c.14195G>C (p.Gly4732Ala) c.14225G>C (p.Gly4742Ala) c.14141G>C (p.Gly4714Ala) | dbSNP |
| 19 | g.38577973G= | CA2335091298 | RYR1 | c.1164G= c.2561G= c.2533G= c.14228G= (p.Gly4743=) c.14213G= (p.Gly4738=) c.14210G= (p.Gly4737=) c.14195G= (p.Gly4732=) c.14225G= (p.Gly4742=) c.14141G= (p.Gly4714=) | |
| 19 | g.38577973G>T | CA405684462 | RYR1 | c.1164G>T c.2561G>T c.2533G>T c.14228G>T (p.Gly4743Val) c.14213G>T (p.Gly4738Val) c.14210G>T (p.Gly4737Val) c.14195G>T (p.Gly4732Val) c.14225G>T (p.Gly4742Val) c.14141G>T (p.Gly4714Val) | dbSNP |
| 19 | g.38577974C>A | CA507245864 | RYR1 | c.1165C>A c.2562C>A c.2534C>A c.14229C>A (p.Gly4743=) c.14214C>A (p.Gly4738=) c.14211C>A (p.Gly4737=) c.14196C>A (p.Gly4732=) c.14226C>A (p.Gly4742=) c.14142C>A (p.Gly4714=) | |
| 19 | g.38577974C>G | CA507245865 | RYR1 | c.1165C>G c.2562C>G c.2534C>G c.14229C>G (p.Gly4743=) c.14214C>G (p.Gly4738=) c.14211C>G (p.Gly4737=) c.14196C>G (p.Gly4732=) c.14226C>G (p.Gly4742=) c.14142C>G (p.Gly4714=) | |
| 19 | g.38577974C>T | CA507245866 | RYR1 | c.1165C>T c.2562C>T c.2534C>T c.14229C>T (p.Gly4743=) c.14214C>T (p.Gly4738=) c.14211C>T (p.Gly4737=) c.14196C>T (p.Gly4732=) c.14226C>T (p.Gly4742=) c.14142C>T (p.Gly4714=) | |
| 19 | g.38577975A= | CA2335091299 | RYR1 | c.1166A= c.2563A= c.2535A= c.14230A= (p.Met4744=) c.14215A= (p.Met4739=) c.14212A= (p.Met4738=) c.14197A= (p.Met4733=) c.14227A= (p.Met4743=) c.14143A= (p.Met4715=) | |
| 19 | g.38577975A>C | CA405684476 | RYR1 | c.1166A>C c.2563A>C c.2535A>C c.14230A>C (p.Met4744Leu) c.14215A>C (p.Met4739Leu) c.14212A>C (p.Met4738Leu) c.14197A>C (p.Met4733Leu) c.14227A>C (p.Met4743Leu) c.14143A>C (p.Met4715Leu) | |
| 19 | g.38577975A>G | CA308120103 | RYR1 | c.1166A>G c.2563A>G c.2535A>G c.14230A>G (p.Met4744Val) c.14215A>G (p.Met4739Val) c.14212A>G (p.Met4738Val) c.14197A>G (p.Met4733Val) c.14227A>G (p.Met4743Val) c.14143A>G (p.Met4715Val) | dbSNP gnomAD v4 |
| 19 | g.38577975A>T | CA405684480 | RYR1 | c.1166A>T c.2563A>T c.2535A>T c.14230A>T (p.Met4744Leu) c.14215A>T (p.Met4739Leu) c.14212A>T (p.Met4738Leu) c.14197A>T (p.Met4733Leu) c.14227A>T (p.Met4743Leu) c.14143A>T (p.Met4715Leu) | |
| 19 | g.38577976T>A | CA405684498 | RYR1 | c.1167T>A c.2564T>A c.2536T>A c.14231T>A (p.Met4744Lys) c.14216T>A (p.Met4739Lys) c.14213T>A (p.Met4738Lys) c.14198T>A (p.Met4733Lys) c.14228T>A (p.Met4743Lys) c.14144T>A (p.Met4715Lys) | |
| 19 | g.38577976T>C | CA405684495 | RYR1 | c.1167T>C c.2564T>C c.2536T>C c.14231T>C (p.Met4744Thr) c.14216T>C (p.Met4739Thr) c.14213T>C (p.Met4738Thr) c.14198T>C (p.Met4733Thr) c.14228T>C (p.Met4743Thr) c.14144T>C (p.Met4715Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38577976T>G | CA405684492 | RYR1 | c.1167T>G c.2564T>G c.2536T>G c.14231T>G (p.Met4744Arg) c.14216T>G (p.Met4739Arg) c.14213T>G (p.Met4738Arg) c.14198T>G (p.Met4733Arg) c.14228T>G (p.Met4743Arg) c.14144T>G (p.Met4715Arg) | |
| 19 | g.38577976T= | CA2335091300 | RYR1 | c.1167T= c.2564T= c.2536T= c.14231T= (p.Met4744=) c.14216T= (p.Met4739=) c.14213T= (p.Met4738=) c.14198T= (p.Met4733=) c.14228T= (p.Met4743=) c.14144T= (p.Met4715=) | |
| 19 | g.38577977G>A | CA405684504 | RYR1 | c.1168G>A c.2565G>A c.2537G>A c.14232G>A (p.Met4744Ile) c.14217G>A (p.Met4739Ile) c.14214G>A (p.Met4738Ile) c.14199G>A (p.Met4733Ile) c.14229G>A (p.Met4743Ile) c.14145G>A (p.Met4715Ile) | |
| 19 | g.38577977G>C | CA060994 | RYR1 | c.1168G>C c.2565G>C c.2537G>C c.14232G>C (p.Met4744Ile) c.14217G>C (p.Met4739Ile) c.14214G>C (p.Met4738Ile) c.14199G>C (p.Met4733Ile) c.14229G>C (p.Met4743Ile) c.14145G>C (p.Met4715Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38577977G= | CA2335091301 | RYR1 | c.1168G= c.2565G= c.2537G= c.14232G= (p.Met4744=) c.14217G= (p.Met4739=) c.14214G= (p.Met4738=) c.14199G= (p.Met4733=) c.14229G= (p.Met4743=) c.14145G= (p.Met4715=) | |
| 19 | g.38577977G>T | CA405684508 | RYR1 | c.1168G>T c.2565G>T c.2537G>T c.14232G>T (p.Met4744Ile) c.14217G>T (p.Met4739Ile) c.14214G>T (p.Met4738Ile) c.14199G>T (p.Met4733Ile) c.14229G>T (p.Met4743Ile) c.14145G>T (p.Met4715Ile) | |
| 19 | g.38577978G>A | CA405684511 | RYR1 | c.1169G>A c.2566G>A c.2538G>A c.14233G>A (p.Asp4745Asn) c.14218G>A (p.Asp4740Asn) c.14215G>A (p.Asp4739Asn) c.14200G>A (p.Asp4734Asn) c.14230G>A (p.Asp4744Asn) c.14146G>A (p.Asp4716Asn) | |
| 19 | g.38577978G>C | CA405684514 | RYR1 | c.1169G>C c.2566G>C c.2538G>C c.14233G>C (p.Asp4745His) c.14218G>C (p.Asp4740His) c.14215G>C (p.Asp4739His) c.14200G>C (p.Asp4734His) c.14230G>C (p.Asp4744His) c.14146G>C (p.Asp4716His) | |
| 19 | g.38577978G>T | CA405684516 | RYR1 | c.1169G>T c.2566G>T c.2538G>T c.14233G>T (p.Asp4745Tyr) c.14218G>T (p.Asp4740Tyr) c.14215G>T (p.Asp4739Tyr) c.14200G>T (p.Asp4734Tyr) c.14230G>T (p.Asp4744Tyr) c.14146G>T (p.Asp4716Tyr) | |
| 19 | g.38577979A>C | CA405684521 | RYR1 | c.1170A>C c.2567A>C c.2539A>C c.14234A>C (p.Asp4745Ala) c.14219A>C (p.Asp4740Ala) c.14216A>C (p.Asp4739Ala) c.14201A>C (p.Asp4734Ala) c.14231A>C (p.Asp4744Ala) c.14147A>C (p.Asp4716Ala) | |
| 19 | g.38577979A>G | CA405684519 | RYR1 | c.1170A>G c.2567A>G c.2539A>G c.14234A>G (p.Asp4745Gly) c.14219A>G (p.Asp4740Gly) c.14216A>G (p.Asp4739Gly) c.14201A>G (p.Asp4734Gly) c.14231A>G (p.Asp4744Gly) c.14147A>G (p.Asp4716Gly) | |
| 19 | g.38577979A>T | CA405684520 | RYR1 | c.1170A>T c.2567A>T c.2539A>T c.14234A>T (p.Asp4745Val) c.14219A>T (p.Asp4740Val) c.14216A>T (p.Asp4739Val) c.14201A>T (p.Asp4734Val) c.14231A>T (p.Asp4744Val) c.14147A>T (p.Asp4716Val) | dbSNP gnomAD v4 |
| 19 | g.38577980C>A | CA405684522 | RYR1 | c.1171C>A c.2568C>A c.2540C>A c.14235C>A (p.Asp4745Glu) c.14220C>A (p.Asp4740Glu) c.14217C>A (p.Asp4739Glu) c.14202C>A (p.Asp4734Glu) c.14232C>A (p.Asp4744Glu) c.14148C>A (p.Asp4716Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38577980C= | CA2335091302 | RYR1 | c.1171C= c.2568C= c.2540C= c.14235C= (p.Asp4745=) c.14220C= (p.Asp4740=) c.14217C= (p.Asp4739=) c.14202C= (p.Asp4734=) c.14232C= (p.Asp4744=) c.14148C= (p.Asp4716=) | |
| 19 | g.38577980C>G | CA405684523 | RYR1 | c.1171C>G c.2568C>G c.2540C>G c.14235C>G (p.Asp4745Glu) c.14220C>G (p.Asp4740Glu) c.14217C>G (p.Asp4739Glu) c.14202C>G (p.Asp4734Glu) c.14232C>G (p.Asp4744Glu) c.14148C>G (p.Asp4716Glu) | |
| 19 | g.38577980C>T | CA507245867 | RYR1 | c.1171C>T c.2568C>T c.2540C>T c.14235C>T (p.Asp4745=) c.14220C>T (p.Asp4740=) c.14217C>T (p.Asp4739=) c.14202C>T (p.Asp4734=) c.14232C>T (p.Asp4744=) c.14148C>T (p.Asp4716=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38577981C>A | CA060997 | RYR1 | c.1172C>A c.2569C>A c.2541C>A c.14236C>A (p.Leu4746Met) c.14221C>A (p.Leu4741Met) c.14218C>A (p.Leu4740Met) c.14203C>A (p.Leu4735Met) c.14233C>A (p.Leu4745Met) c.14149C>A (p.Leu4717Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38577981C= | CA2335091303 | RYR1 | c.1172C= c.2569C= c.2541C= c.14236C= (p.Leu4746=) c.14221C= (p.Leu4741=) c.14218C= (p.Leu4740=) c.14203C= (p.Leu4735=) c.14233C= (p.Leu4745=) c.14149C= (p.Leu4717=) | |
| 19 | g.38577981C>G | CA405684526 | RYR1 | c.1172C>G c.2569C>G c.2541C>G c.14236C>G (p.Leu4746Val) c.14221C>G (p.Leu4741Val) c.14218C>G (p.Leu4740Val) c.14203C>G (p.Leu4735Val) c.14233C>G (p.Leu4745Val) c.14149C>G (p.Leu4717Val) | |
| 19 | g.38577981C>T | CA507245868 | RYR1 | c.1172C>T c.2569C>T c.2541C>T c.14236C>T (p.Leu4746=) c.14221C>T (p.Leu4741=) c.14218C>T (p.Leu4740=) c.14203C>T (p.Leu4735=) c.14233C>T (p.Leu4745=) c.14149C>T (p.Leu4717=) | gnomAD v4 COSMIC |
| 19 | g.38577982T>A | CA405684544 | RYR1 | c.1173T>A c.2570T>A c.2542T>A c.14237T>A (p.Leu4746Gln) c.14222T>A (p.Leu4741Gln) c.14219T>A (p.Leu4740Gln) c.14204T>A (p.Leu4735Gln) c.14234T>A (p.Leu4745Gln) c.14150T>A (p.Leu4717Gln) | |
| 19 | g.38577982T>C | CA405684546 | RYR1 | c.1173T>C c.2570T>C c.2542T>C c.14237T>C (p.Leu4746Pro) c.14222T>C (p.Leu4741Pro) c.14219T>C (p.Leu4740Pro) c.14204T>C (p.Leu4735Pro) c.14234T>C (p.Leu4745Pro) c.14150T>C (p.Leu4717Pro) | gnomAD v4 |
| 19 | g.38577982T>G | CA405684549 | RYR1 | c.1173T>G c.2570T>G c.2542T>G c.14237T>G (p.Leu4746Arg) c.14222T>G (p.Leu4741Arg) c.14219T>G (p.Leu4740Arg) c.14204T>G (p.Leu4735Arg) c.14234T>G (p.Leu4745Arg) c.14150T>G (p.Leu4717Arg) | |
| 19 | g.38577983G>A | CA507245869 | RYR1 | c.1174G>A c.2571G>A c.2543G>A c.14238G>A (p.Leu4746=) c.14223G>A (p.Leu4741=) c.14220G>A (p.Leu4740=) c.14205G>A (p.Leu4735=) c.14235G>A (p.Leu4745=) c.14151G>A (p.Leu4717=) | ClinVar |
| 19 | g.38577983G>C | CA507245870 | RYR1 | c.1174G>C c.2571G>C c.2543G>C c.14238G>C (p.Leu4746=) c.14223G>C (p.Leu4741=) c.14220G>C (p.Leu4740=) c.14205G>C (p.Leu4735=) c.14235G>C (p.Leu4745=) c.14151G>C (p.Leu4717=) | |
| 19 | g.38577983G>T | CA507245871 | RYR1 | c.1174G>T c.2571G>T c.2543G>T c.14238G>T (p.Leu4746=) c.14223G>T (p.Leu4741=) c.14220G>T (p.Leu4740=) c.14205G>T (p.Leu4735=) c.14235G>T (p.Leu4745=) c.14151G>T (p.Leu4717=) | |
| 19 | g.38577984G>A | CA081142 | RYR1 | c.1175G>A c.2572G>A c.2544G>A c.14239G>A (p.Ala4747Thr) c.14224G>A (p.Ala4742Thr) c.14221G>A (p.Ala4741Thr) c.14206G>A (p.Ala4736Thr) c.14236G>A (p.Ala4746Thr) c.14152G>A (p.Ala4718Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38577984G>C | CA405684561 | RYR1 | c.1175G>C c.2572G>C c.2544G>C c.14239G>C (p.Ala4747Pro) c.14224G>C (p.Ala4742Pro) c.14221G>C (p.Ala4741Pro) c.14206G>C (p.Ala4736Pro) c.14236G>C (p.Ala4746Pro) c.14152G>C (p.Ala4718Pro) | |
| 19 | g.38577984G= | CA2335091304 | RYR1 | c.1175G= c.2572G= c.2544G= c.14239G= (p.Ala4747=) c.14224G= (p.Ala4742=) c.14221G= (p.Ala4741=) c.14206G= (p.Ala4736=) c.14236G= (p.Ala4746=) c.14152G= (p.Ala4718=) | |
| 19 | g.38577984G>T | CA405684564 | RYR1 | c.1175G>T c.2572G>T c.2544G>T c.14239G>T (p.Ala4747Ser) c.14224G>T (p.Ala4742Ser) c.14221G>T (p.Ala4741Ser) c.14206G>T (p.Ala4736Ser) c.14236G>T (p.Ala4746Ser) c.14152G>T (p.Ala4718Ser) | |
| 19 | g.38577985C>A | CA405684567 | RYR1 | c.1176C>A c.2573C>A c.2545C>A c.14240C>A (p.Ala4747Asp) c.14225C>A (p.Ala4742Asp) c.14222C>A (p.Ala4741Asp) c.14207C>A (p.Ala4736Asp) c.14237C>A (p.Ala4746Asp) c.14153C>A (p.Ala4718Asp) | |
| 19 | g.38577985C>G | CA405684569 | RYR1 | c.1176C>G c.2573C>G c.2545C>G c.14240C>G (p.Ala4747Gly) c.14225C>G (p.Ala4742Gly) c.14222C>G (p.Ala4741Gly) c.14207C>G (p.Ala4736Gly) c.14237C>G (p.Ala4746Gly) c.14153C>G (p.Ala4718Gly) | |
| 19 | g.38577985C>T | CA405684576 | RYR1 | c.1176C>T c.2573C>T c.2545C>T c.14240C>T (p.Ala4747Val) c.14225C>T (p.Ala4742Val) c.14222C>T (p.Ala4741Val) c.14207C>T (p.Ala4736Val) c.14237C>T (p.Ala4746Val) c.14153C>T (p.Ala4718Val) | |
| 19 | g.38577986C>A | CA507245872 | RYR1 | c.1177C>A c.2574C>A c.2546C>A c.14241C>A (p.Ala4747=) c.14226C>A (p.Ala4742=) c.14223C>A (p.Ala4741=) c.14208C>A (p.Ala4736=) c.14238C>A (p.Ala4746=) c.14154C>A (p.Ala4718=) | |
| 19 | g.38577986C>G | CA507245873 | RYR1 | c.1177C>G c.2574C>G c.2546C>G c.14241C>G (p.Ala4747=) c.14226C>G (p.Ala4742=) c.14223C>G (p.Ala4741=) c.14208C>G (p.Ala4736=) c.14238C>G (p.Ala4746=) c.14154C>G (p.Ala4718=) | |
| 19 | g.38577986C>T | CA507245874 | RYR1 | c.1177C>T c.2574C>T c.2546C>T c.14241C>T (p.Ala4747=) c.14226C>T (p.Ala4742=) c.14223C>T (p.Ala4741=) c.14208C>T (p.Ala4736=) c.14238C>T (p.Ala4746=) c.14154C>T (p.Ala4718=) | |
| 19 | g.38577987A>C | CA405684580 | RYR1 | c.1178A>C c.2575A>C c.2547A>C c.14242A>C (p.Thr4748Pro) c.14227A>C (p.Thr4743Pro) c.14224A>C (p.Thr4742Pro) c.14209A>C (p.Thr4737Pro) c.14239A>C (p.Thr4747Pro) c.14155A>C (p.Thr4719Pro) | |
| 19 | g.38577987A>G | CA405684586 | RYR1 | c.1178A>G c.2575A>G c.2547A>G c.14242A>G (p.Thr4748Ala) c.14227A>G (p.Thr4743Ala) c.14224A>G (p.Thr4742Ala) c.14209A>G (p.Thr4737Ala) c.14239A>G (p.Thr4747Ala) c.14155A>G (p.Thr4719Ala) | ClinVar |
| 19 | g.38577987A>T | CA405684583 | RYR1 | c.1178A>T c.2575A>T c.2547A>T c.14242A>T (p.Thr4748Ser) c.14227A>T (p.Thr4743Ser) c.14224A>T (p.Thr4742Ser) c.14209A>T (p.Thr4737Ser) c.14239A>T (p.Thr4747Ser) c.14155A>T (p.Thr4719Ser) | |
| 19 | g.38577988C>A | CA405684589 | RYR1 | c.1179C>A c.2576C>A c.2548C>A c.14243C>A (p.Thr4748Lys) c.14228C>A (p.Thr4743Lys) c.14225C>A (p.Thr4742Lys) c.14210C>A (p.Thr4737Lys) c.14240C>A (p.Thr4747Lys) c.14156C>A (p.Thr4719Lys) | |
| 19 | g.38577988C>G | CA405684592 | RYR1 | c.1179C>G c.2576C>G c.2548C>G c.14243C>G (p.Thr4748Arg) c.14228C>G (p.Thr4743Arg) c.14225C>G (p.Thr4742Arg) c.14210C>G (p.Thr4737Arg) c.14240C>G (p.Thr4747Arg) c.14156C>G (p.Thr4719Arg) | |
| 19 | g.38577988C>T | CA405684595 | RYR1 | c.1179C>T c.2576C>T c.2548C>T c.14243C>T (p.Thr4748Ile) c.14228C>T (p.Thr4743Ile) c.14225C>T (p.Thr4742Ile) c.14210C>T (p.Thr4737Ile) c.14240C>T (p.Thr4747Ile) c.14156C>T (p.Thr4719Ile) | |
| 19 | g.38577989A= | CA2335091305 | RYR1 | c.1180A= c.2577A= c.2549A= c.14244A= (p.Thr4748=) c.14229A= (p.Thr4743=) c.14226A= (p.Thr4742=) c.14211A= (p.Thr4737=) c.14241A= (p.Thr4747=) c.14157A= (p.Thr4719=) | |
| 19 | g.38577989A>C | CA507245877 | RYR1 | c.1180A>C c.2577A>C c.2549A>C c.14244A>C (p.Thr4748=) c.14229A>C (p.Thr4743=) c.14226A>C (p.Thr4742=) c.14211A>C (p.Thr4737=) c.14241A>C (p.Thr4747=) c.14157A>C (p.Thr4719=) | ClinVar dbSNP |
| 19 | g.38577989A>G | CA507245876 | RYR1 | c.1180A>G c.2577A>G c.2549A>G c.14244A>G (p.Thr4748=) c.14229A>G (p.Thr4743=) c.14226A>G (p.Thr4742=) c.14211A>G (p.Thr4737=) c.14241A>G (p.Thr4747=) c.14157A>G (p.Thr4719=) | |
| 19 | g.38577989A>T | CA507245875 | RYR1 | c.1180A>T c.2577A>T c.2549A>T c.14244A>T (p.Thr4748=) c.14229A>T (p.Thr4743=) c.14226A>T (p.Thr4742=) c.14211A>T (p.Thr4737=) c.14241A>T (p.Thr4747=) c.14157A>T (p.Thr4719=) | COSMIC |
| 19 | g.38577990C>A | CA405684597 | RYR1 | c.1181C>A c.2578C>A c.2550C>A c.14245C>A (p.Leu4749Ile) c.14230C>A (p.Leu4744Ile) c.14227C>A (p.Leu4743Ile) c.14212C>A (p.Leu4738Ile) c.14242C>A (p.Leu4748Ile) c.14158C>A (p.Leu4720Ile) | |
| 19 | g.38577990C>G | CA405684599 | RYR1 | c.1181C>G c.2578C>G c.2550C>G c.14245C>G (p.Leu4749Val) c.14230C>G (p.Leu4744Val) c.14227C>G (p.Leu4743Val) c.14212C>G (p.Leu4738Val) c.14242C>G (p.Leu4748Val) c.14158C>G (p.Leu4720Val) | |
| 19 | g.38577990C>T | CA507245878 | RYR1 | c.1181C>T c.2578C>T c.2550C>T c.14245C>T (p.Leu4749=) c.14230C>T (p.Leu4744=) c.14227C>T (p.Leu4743=) c.14212C>T (p.Leu4738=) c.14242C>T (p.Leu4748=) c.14158C>T (p.Leu4720=) | |
| 19 | g.38577991T>A | CA405684601 | RYR1 | c.1182T>A c.2579T>A c.2551T>A c.14246T>A (p.Leu4749Gln) c.14231T>A (p.Leu4744Gln) c.14228T>A (p.Leu4743Gln) c.14213T>A (p.Leu4738Gln) c.14243T>A (p.Leu4748Gln) c.14159T>A (p.Leu4720Gln) | |
| 19 | g.38577991T>C | CA405684604 | RYR1 | c.1182T>C c.2579T>C c.2551T>C c.14246T>C (p.Leu4749Pro) c.14231T>C (p.Leu4744Pro) c.14228T>C (p.Leu4743Pro) c.14213T>C (p.Leu4738Pro) c.14243T>C (p.Leu4748Pro) c.14159T>C (p.Leu4720Pro) | |
| 19 | g.38577991T>G | CA405684605 | RYR1 | c.1182T>G c.2579T>G c.2551T>G c.14246T>G (p.Leu4749Arg) c.14231T>G (p.Leu4744Arg) c.14228T>G (p.Leu4743Arg) c.14213T>G (p.Leu4738Arg) c.14243T>G (p.Leu4748Arg) c.14159T>G (p.Leu4720Arg) | |
| 19 | g.38577992A>C | CA507245879 | RYR1 | c.1183A>C c.2580A>C c.2552A>C c.14247A>C (p.Leu4749=) c.14232A>C (p.Leu4744=) c.14229A>C (p.Leu4743=) c.14214A>C (p.Leu4738=) c.14244A>C (p.Leu4748=) c.14160A>C (p.Leu4720=) | gnomAD v4 |
| 19 | g.38577992A>G | CA507245880 | RYR1 | c.1183A>G c.2580A>G c.2552A>G c.14247A>G (p.Leu4749=) c.14232A>G (p.Leu4744=) c.14229A>G (p.Leu4743=) c.14214A>G (p.Leu4738=) c.14244A>G (p.Leu4748=) c.14160A>G (p.Leu4720=) | gnomAD v4 |
| 19 | g.38577992A>T | CA507245881 | RYR1 | c.1183A>T c.2580A>T c.2552A>T c.14247A>T (p.Leu4749=) c.14232A>T (p.Leu4744=) c.14229A>T (p.Leu4743=) c.14214A>T (p.Leu4738=) c.14244A>T (p.Leu4748=) c.14160A>T (p.Leu4720=) | |
| 19 | g.38577993G>A | CA405684608 | RYR1 | c.1184G>A c.2581G>A c.2553G>A c.14248G>A (p.Glu4750Lys) c.14233G>A (p.Glu4745Lys) c.14230G>A (p.Glu4744Lys) c.14215G>A (p.Glu4739Lys) c.14245G>A (p.Glu4749Lys) c.14161G>A (p.Glu4721Lys) | ClinVar COSMIC |
| 19 | g.38577993G>C | CA405684611 | RYR1 | c.1184G>C c.2581G>C c.2553G>C c.14248G>C (p.Glu4750Gln) c.14233G>C (p.Glu4745Gln) c.14230G>C (p.Glu4744Gln) c.14215G>C (p.Glu4739Gln) c.14245G>C (p.Glu4749Gln) c.14161G>C (p.Glu4721Gln) | |
| 19 | g.38577993G>T | CA405684614 | RYR1 | c.1184G>T c.2581G>T c.2553G>T c.14248G>T (p.Glu4750Ter) c.14233G>T (p.Glu4745Ter) c.14230G>T (p.Glu4744Ter) c.14215G>T (p.Glu4739Ter) c.14245G>T (p.Glu4749Ter) c.14161G>T (p.Glu4721Ter) | |
| 19 | g.38577994A= | CA2335091306 | RYR1 | c.1185A= c.2582A= c.2554A= c.14249A= (p.Glu4750=) c.14234A= (p.Glu4745=) c.14231A= (p.Glu4744=) c.14216A= (p.Glu4739=) c.14246A= (p.Glu4749=) c.14162A= (p.Glu4721=) | |
| 19 | g.38577994A>C | CA405684620 | RYR1 | c.1185A>C c.2582A>C c.2554A>C c.14249A>C (p.Glu4750Ala) c.14234A>C (p.Glu4745Ala) c.14231A>C (p.Glu4744Ala) c.14216A>C (p.Glu4739Ala) c.14246A>C (p.Glu4749Ala) c.14162A>C (p.Glu4721Ala) | |
| 19 | g.38577994A>G | CA405684619 | RYR1 | c.1185A>G c.2582A>G c.2554A>G c.14249A>G (p.Glu4750Gly) c.14234A>G (p.Glu4745Gly) c.14231A>G (p.Glu4744Gly) c.14216A>G (p.Glu4739Gly) c.14246A>G (p.Glu4749Gly) c.14162A>G (p.Glu4721Gly) | |
| 19 | g.38577994A>T | CA308120110 | RYR1 | c.1185A>T c.2582A>T c.2554A>T c.14249A>T (p.Glu4750Val) c.14234A>T (p.Glu4745Val) c.14231A>T (p.Glu4744Val) c.14216A>T (p.Glu4739Val) c.14246A>T (p.Glu4749Val) c.14162A>T (p.Glu4721Val) | ClinVar dbSNP |
| 19 | g.38577995G>A | CA507245882 | RYR1 | c.1186G>A c.2583G>A c.2555G>A c.14250G>A (p.Glu4750=) c.14235G>A (p.Glu4745=) c.14232G>A (p.Glu4744=) c.14217G>A (p.Glu4739=) c.14247G>A (p.Glu4749=) c.14163G>A (p.Glu4721=) | |
| 19 | g.38577995G>C | CA405684622 | RYR1 | c.1186G>C c.2583G>C c.2555G>C c.14250G>C (p.Glu4750Asp) c.14235G>C (p.Glu4745Asp) c.14232G>C (p.Glu4744Asp) c.14217G>C (p.Glu4739Asp) c.14247G>C (p.Glu4749Asp) c.14163G>C (p.Glu4721Asp) | |
| 19 | g.38577995G>T | CA405684624 | RYR1 | c.1186G>T c.2583G>T c.2555G>T c.14250G>T (p.Glu4750Asp) c.14235G>T (p.Glu4745Asp) c.14232G>T (p.Glu4744Asp) c.14217G>T (p.Glu4739Asp) c.14247G>T (p.Glu4749Asp) c.14163G>T (p.Glu4721Asp) | |
| 19 | g.38577996A>C | CA405684626 | RYR1 | c.1187A>C c.2584A>C c.2556A>C c.14251A>C (p.Ile4751Leu) c.14236A>C (p.Ile4746Leu) c.14233A>C (p.Ile4745Leu) c.14218A>C (p.Ile4740Leu) c.14248A>C (p.Ile4750Leu) c.14164A>C (p.Ile4722Leu) | |
| 19 | g.38577996A>G | CA405684627 | RYR1 | c.1187A>G c.2584A>G c.2556A>G c.14251A>G (p.Ile4751Val) c.14236A>G (p.Ile4746Val) c.14233A>G (p.Ile4745Val) c.14218A>G (p.Ile4740Val) c.14248A>G (p.Ile4750Val) c.14164A>G (p.Ile4722Val) | |
| 19 | g.38577996A>T | CA405684629 | RYR1 | c.1187A>T c.2584A>T c.2556A>T c.14251A>T (p.Ile4751Phe) c.14236A>T (p.Ile4746Phe) c.14233A>T (p.Ile4745Phe) c.14218A>T (p.Ile4740Phe) c.14248A>T (p.Ile4750Phe) c.14164A>T (p.Ile4722Phe) | |
| 19 | g.38577997T>A | CA405684630 | RYR1 | c.1188T>A c.2585T>A c.2557T>A c.14252T>A (p.Ile4751Asn) c.14237T>A (p.Ile4746Asn) c.14234T>A (p.Ile4745Asn) c.14219T>A (p.Ile4740Asn) c.14249T>A (p.Ile4750Asn) c.14165T>A (p.Ile4722Asn) | |
| 19 | g.38577997T>C | CA405684636 | RYR1 | c.1188T>C c.2585T>C c.2557T>C c.14252T>C (p.Ile4751Thr) c.14237T>C (p.Ile4746Thr) c.14234T>C (p.Ile4745Thr) c.14219T>C (p.Ile4740Thr) c.14249T>C (p.Ile4750Thr) c.14165T>C (p.Ile4722Thr) | |
| 19 | g.38577997T>G | CA061001 | RYR1 | c.1188T>G c.2585T>G c.2557T>G c.14252T>G (p.Ile4751Ser) c.14237T>G (p.Ile4746Ser) c.14234T>G (p.Ile4745Ser) c.14219T>G (p.Ile4740Ser) c.14249T>G (p.Ile4750Ser) c.14165T>G (p.Ile4722Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38577997T= | CA2335091307 | RYR1 | c.1188T= c.2585T= c.2557T= c.14252T= (p.Ile4751=) c.14237T= (p.Ile4746=) c.14234T= (p.Ile4745=) c.14219T= (p.Ile4740=) c.14249T= (p.Ile4750=) c.14165T= (p.Ile4722=) | |
| 19 | g.38577998C>A | CA507245883 | RYR1 | c.1189C>A c.2586C>A c.2558C>A c.14253C>A (p.Ile4751=) c.14238C>A (p.Ile4746=) c.14235C>A (p.Ile4745=) c.14220C>A (p.Ile4740=) c.14250C>A (p.Ile4750=) c.14166C>A (p.Ile4722=) | |
| 19 | g.38577998C= | CA2335091308 | RYR1 | c.1189C= c.2586C= c.2558C= c.14253C= (p.Ile4751=) c.14238C= (p.Ile4746=) c.14235C= (p.Ile4745=) c.14220C= (p.Ile4740=) c.14250C= (p.Ile4750=) c.14166C= (p.Ile4722=) | |
| 19 | g.38577998C>G | CA405684640 | RYR1 | c.1189C>G c.2586C>G c.2558C>G c.14253C>G (p.Ile4751Met) c.14238C>G (p.Ile4746Met) c.14235C>G (p.Ile4745Met) c.14220C>G (p.Ile4740Met) c.14250C>G (p.Ile4750Met) c.14166C>G (p.Ile4722Met) | |
| 19 | g.38577998C>T | CA061005 | RYR1 | c.1189C>T c.2586C>T c.2558C>T c.14253C>T (p.Ile4751=) c.14238C>T (p.Ile4746=) c.14235C>T (p.Ile4745=) c.14220C>T (p.Ile4740=) c.14250C>T (p.Ile4750=) c.14166C>T (p.Ile4722=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38577999A>C | CA405684644 | RYR1 | c.1190A>C c.2587A>C c.2559A>C c.14254A>C (p.Thr4752Pro) c.14239A>C (p.Thr4747Pro) c.14236A>C (p.Thr4746Pro) c.14221A>C (p.Thr4741Pro) c.14251A>C (p.Thr4751Pro) c.14167A>C (p.Thr4723Pro) | |
| 19 | g.38577999A>G | CA405684649 | RYR1 | c.1190A>G c.2587A>G c.2559A>G c.14254A>G (p.Thr4752Ala) c.14239A>G (p.Thr4747Ala) c.14236A>G (p.Thr4746Ala) c.14221A>G (p.Thr4741Ala) c.14251A>G (p.Thr4751Ala) c.14167A>G (p.Thr4723Ala) | |
| 19 | g.38577999A>T | CA405684652 | RYR1 | c.1190A>T c.2587A>T c.2559A>T c.14254A>T (p.Thr4752Ser) c.14239A>T (p.Thr4747Ser) c.14236A>T (p.Thr4746Ser) c.14221A>T (p.Thr4741Ser) c.14251A>T (p.Thr4751Ser) c.14167A>T (p.Thr4723Ser) | |
| 19 | g.38578000C>A | CA405684656 | RYR1 | c.1191C>A c.2588C>A c.2560C>A c.14255C>A (p.Thr4752Lys) c.14240C>A (p.Thr4747Lys) c.14237C>A (p.Thr4746Lys) c.14222C>A (p.Thr4741Lys) c.14252C>A (p.Thr4751Lys) c.14168C>A (p.Thr4723Lys) | |
| 19 | g.38578000C>G | CA405684657 | RYR1 | c.1191C>G c.2588C>G c.2560C>G c.14255C>G (p.Thr4752Arg) c.14240C>G (p.Thr4747Arg) c.14237C>G (p.Thr4746Arg) c.14222C>G (p.Thr4741Arg) c.14252C>G (p.Thr4751Arg) c.14168C>G (p.Thr4723Arg) | gnomAD v4 |
| 19 | g.38578000C>T | CA405684654 | RYR1 | c.1191C>T c.2588C>T c.2560C>T c.14255C>T (p.Thr4752Ile) c.14240C>T (p.Thr4747Ile) c.14237C>T (p.Thr4746Ile) c.14222C>T (p.Thr4741Ile) c.14252C>T (p.Thr4751Ile) c.14168C>T (p.Thr4723Ile) | |
| 19 | g.38578001_38578026del | CA2584910696 | RYR1 | c.1192_1217del c.2589_2614del c.2561_2586del c.14256_14281del (p.His4754AlafsTer?) c.14241_14266del (p.His4749AlafsTer?) c.14238_14263del (p.His4748AlafsTer?) c.14223_14248del (p.His4743AlafsTer?) c.14253_14278del (p.His4753AlafsTer?) c.14169_14194del (p.His4725AlafsTer?) | gnomAD v4 |
| 19 | g.38578001A= | CA2335091310 | RYR1 | c.1192A= c.2589A= c.2561A= c.14256A= (p.Thr4752=) c.14241A= (p.Thr4747=) c.14238A= (p.Thr4746=) c.14223A= (p.Thr4741=) c.14253A= (p.Thr4751=) c.14169A= (p.Thr4723=) | |
| 19 | g.38578001A>C | CA024124 | RYR1 | c.1192A>C c.2589A>C c.2561A>C c.14256A>C (p.Thr4752=) c.14241A>C (p.Thr4747=) c.14238A>C (p.Thr4746=) c.14223A>C (p.Thr4741=) c.14253A>C (p.Thr4751=) c.14169A>C (p.Thr4723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578001A>G | CA507245884 | RYR1 | c.1192A>G c.2589A>G c.2561A>G c.14256A>G (p.Thr4752=) c.14241A>G (p.Thr4747=) c.14238A>G (p.Thr4746=) c.14223A>G (p.Thr4741=) c.14253A>G (p.Thr4751=) c.14169A>G (p.Thr4723=) | |
| 19 | g.38578001A>T | CA081145 | RYR1 | c.1192A>T c.2589A>T c.2561A>T c.14256A>T (p.Thr4752=) c.14241A>T (p.Thr4747=) c.14238A>T (p.Thr4746=) c.14223A>T (p.Thr4741=) c.14253A>T (p.Thr4751=) c.14169A>T (p.Thr4723=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578001_38578002delinsAG | CA2335091309 | RYR1 | c.1192_1193delinsAG c.2589_2590delinsAG c.2561_2562delinsAG c.14256_14257delinsAG (p.Thr4752=) c.14241_14242delinsAG (p.Thr4747=) c.14238_14239delinsAG (p.Thr4746=) c.14223_14224delinsAG (p.Thr4741=) c.14253_14254delinsAG (p.Thr4751=) c.14169_14170delinsAG (p.Thr4723=) | |
| 19 | g.38578001_38578002delinsCA | CA658799221 | RYR1 | c.1192_1193delinsCA c.2589_2590delinsCA c.2561_2562delinsCA c.14256_14257delinsCA (p.Ala4753Thr) c.14241_14242delinsCA (p.Ala4748Thr) c.14238_14239delinsCA (p.Ala4747Thr) c.14223_14224delinsCA (p.Ala4742Thr) c.14253_14254delinsCA (p.Ala4752Thr) c.14169_14170delinsCA (p.Ala4724Thr) | ClinVar dbSNP |
| 19 | g.38578002G>A | CA061015 | RYR1 | c.1193G>A c.2590G>A c.2562G>A c.14257G>A (p.Ala4753Thr) c.14242G>A (p.Ala4748Thr) c.14239G>A (p.Ala4747Thr) c.14224G>A (p.Ala4742Thr) c.14254G>A (p.Ala4752Thr) c.14170G>A (p.Ala4724Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578002G>C | CA405684663 | RYR1 | c.1193G>C c.2590G>C c.2562G>C c.14257G>C (p.Ala4753Pro) c.14242G>C (p.Ala4748Pro) c.14239G>C (p.Ala4747Pro) c.14224G>C (p.Ala4742Pro) c.14254G>C (p.Ala4752Pro) c.14170G>C (p.Ala4724Pro) | |
| 19 | g.38578002G= | CA2335091311 | RYR1 | c.1193G= c.2590G= c.2562G= c.14257G= (p.Ala4753=) c.14242G= (p.Ala4748=) c.14239G= (p.Ala4747=) c.14224G= (p.Ala4742=) c.14254G= (p.Ala4752=) c.14170G= (p.Ala4724=) | |
| 19 | g.38578002G>T | CA405684666 | RYR1 | c.1193G>T c.2590G>T c.2562G>T c.14257G>T (p.Ala4753Ser) c.14242G>T (p.Ala4748Ser) c.14239G>T (p.Ala4747Ser) c.14224G>T (p.Ala4742Ser) c.14254G>T (p.Ala4752Ser) c.14170G>T (p.Ala4724Ser) | |
| 19 | g.38578003C>A | CA405684668 | RYR1 | c.1194C>A c.2591C>A c.2563C>A c.14258C>A (p.Ala4753Asp) c.14243C>A (p.Ala4748Asp) c.14240C>A (p.Ala4747Asp) c.14225C>A (p.Ala4742Asp) c.14255C>A (p.Ala4752Asp) c.14171C>A (p.Ala4724Asp) | |
| 19 | g.38578003C= | CA2335091312 | RYR1 | c.1194C= c.2591C= c.2563C= c.14258C= (p.Ala4753=) c.14243C= (p.Ala4748=) c.14240C= (p.Ala4747=) c.14225C= (p.Ala4742=) c.14255C= (p.Ala4752=) c.14171C= (p.Ala4724=) | |
| 19 | g.38578003C>G | CA405684669 | RYR1 | c.1194C>G c.2591C>G c.2563C>G c.14258C>G (p.Ala4753Gly) c.14243C>G (p.Ala4748Gly) c.14240C>G (p.Ala4747Gly) c.14225C>G (p.Ala4742Gly) c.14255C>G (p.Ala4752Gly) c.14171C>G (p.Ala4724Gly) | |
| 19 | g.38578003C>T | CA061016 | RYR1 | c.1194C>T c.2591C>T c.2563C>T c.14258C>T (p.Ala4753Val) c.14243C>T (p.Ala4748Val) c.14240C>T (p.Ala4747Val) c.14225C>T (p.Ala4742Val) c.14255C>T (p.Ala4752Val) c.14171C>T (p.Ala4724Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578004C>A | CA507245885 | RYR1 | c.1195C>A c.2592C>A c.2564C>A c.14259C>A (p.Ala4753=) c.14244C>A (p.Ala4748=) c.14241C>A (p.Ala4747=) c.14226C>A (p.Ala4742=) c.14256C>A (p.Ala4752=) c.14172C>A (p.Ala4724=) | |
| 19 | g.38578004C= | CA2335091313 | RYR1 | c.1195C= c.2592C= c.2564C= c.14259C= (p.Ala4753=) c.14244C= (p.Ala4748=) c.14241C= (p.Ala4747=) c.14226C= (p.Ala4742=) c.14256C= (p.Ala4752=) c.14172C= (p.Ala4724=) | |
| 19 | g.38578004C>G | CA507245886 | RYR1 | c.1195C>G c.2592C>G c.2564C>G c.14259C>G (p.Ala4753=) c.14244C>G (p.Ala4748=) c.14241C>G (p.Ala4747=) c.14226C>G (p.Ala4742=) c.14256C>G (p.Ala4752=) c.14172C>G (p.Ala4724=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38578004C>T | CA507245887 | RYR1 | c.1195C>T c.2592C>T c.2564C>T c.14259C>T (p.Ala4753=) c.14244C>T (p.Ala4748=) c.14241C>T (p.Ala4747=) c.14226C>T (p.Ala4742=) c.14256C>T (p.Ala4752=) c.14172C>T (p.Ala4724=) | |
| 19 | g.38578005C>A | CA405684678 | RYR1 | c.1196C>A c.2593C>A c.2565C>A c.14260C>A (p.His4754Asn) c.14245C>A (p.His4749Asn) c.14242C>A (p.His4748Asn) c.14227C>A (p.His4743Asn) c.14257C>A (p.His4753Asn) c.14173C>A (p.His4725Asn) | |
| 19 | g.38578005C>G | CA405684674 | RYR1 | c.1196C>G c.2593C>G c.2565C>G c.14260C>G (p.His4754Asp) c.14245C>G (p.His4749Asp) c.14242C>G (p.His4748Asp) c.14227C>G (p.His4743Asp) c.14257C>G (p.His4753Asp) c.14173C>G (p.His4725Asp) | |
| 19 | g.38578005C>T | CA405684676 | RYR1 | c.1196C>T c.2593C>T c.2565C>T c.14260C>T (p.His4754Tyr) c.14245C>T (p.His4749Tyr) c.14242C>T (p.His4748Tyr) c.14227C>T (p.His4743Tyr) c.14257C>T (p.His4753Tyr) c.14173C>T (p.His4725Tyr) | |
| 19 | g.38578006A>C | CA405684680 | RYR1 | c.1197A>C c.2594A>C c.2566A>C c.14261A>C (p.His4754Pro) c.14246A>C (p.His4749Pro) c.14243A>C (p.His4748Pro) c.14228A>C (p.His4743Pro) c.14258A>C (p.His4753Pro) c.14174A>C (p.His4725Pro) | |
| 19 | g.38578006A>G | CA405684682 | RYR1 | c.1197A>G c.2594A>G c.2566A>G c.14261A>G (p.His4754Arg) c.14246A>G (p.His4749Arg) c.14243A>G (p.His4748Arg) c.14228A>G (p.His4743Arg) c.14258A>G (p.His4753Arg) c.14174A>G (p.His4725Arg) | |
| 19 | g.38578006A>T | CA405684684 | RYR1 | c.1197A>T c.2594A>T c.2566A>T c.14261A>T (p.His4754Leu) c.14246A>T (p.His4749Leu) c.14243A>T (p.His4748Leu) c.14228A>T (p.His4743Leu) c.14258A>T (p.His4753Leu) c.14174A>T (p.His4725Leu) | |
| 19 | g.38578007C>A | CA405684686 | RYR1 | c.1198C>A c.2595C>A c.2567C>A c.14262C>A (p.His4754Gln) c.14247C>A (p.His4749Gln) c.14244C>A (p.His4748Gln) c.14229C>A (p.His4743Gln) c.14259C>A (p.His4753Gln) c.14175C>A (p.His4725Gln) | |
| 19 | g.38578007C>G | CA405684688 | RYR1 | c.1198C>G c.2595C>G c.2567C>G c.14262C>G (p.His4754Gln) c.14247C>G (p.His4749Gln) c.14244C>G (p.His4748Gln) c.14229C>G (p.His4743Gln) c.14259C>G (p.His4753Gln) c.14175C>G (p.His4725Gln) | |
| 19 | g.38578007C>T | CA507245888 | RYR1 | c.1198C>T c.2595C>T c.2567C>T c.14262C>T (p.His4754=) c.14247C>T (p.His4749=) c.14244C>T (p.His4748=) c.14229C>T (p.His4743=) c.14259C>T (p.His4753=) c.14175C>T (p.His4725=) | |
| 19 | g.38578008A= | CA2335091314 | RYR1 | c.1199A= c.2596A= c.2568A= c.14263A= (p.Asn4755=) c.14248A= (p.Asn4750=) c.14245A= (p.Asn4749=) c.14230A= (p.Asn4744=) c.14260A= (p.Asn4754=) c.14176A= (p.Asn4726=) | |
| 19 | g.38578008A>C | CA405684689 | RYR1 | c.1199A>C c.2596A>C c.2568A>C c.14263A>C (p.Asn4755His) c.14248A>C (p.Asn4750His) c.14245A>C (p.Asn4749His) c.14230A>C (p.Asn4744His) c.14260A>C (p.Asn4754His) c.14176A>C (p.Asn4726His) | |
| 19 | g.38578008A>G | CA405684694 | RYR1 | c.1199A>G c.2596A>G c.2568A>G c.14263A>G (p.Asn4755Asp) c.14248A>G (p.Asn4750Asp) c.14245A>G (p.Asn4749Asp) c.14230A>G (p.Asn4744Asp) c.14260A>G (p.Asn4754Asp) c.14176A>G (p.Asn4726Asp) | dbSNP gnomAD v2 |
| 19 | g.38578008A>T | CA405684692 | RYR1 | c.1199A>T c.2596A>T c.2568A>T c.14263A>T (p.Asn4755Tyr) c.14248A>T (p.Asn4750Tyr) c.14245A>T (p.Asn4749Tyr) c.14230A>T (p.Asn4744Tyr) c.14260A>T (p.Asn4754Tyr) c.14176A>T (p.Asn4726Tyr) | |
| 19 | g.38578009A= | CA2335091315 | RYR1 | c.1200A= c.2597A= c.2569A= c.14264A= (p.Asn4755=) c.14249A= (p.Asn4750=) c.14246A= (p.Asn4749=) c.14231A= (p.Asn4744=) c.14261A= (p.Asn4754=) c.14177A= (p.Asn4726=) | |
| 19 | g.38578009A>C | CA405684697 | RYR1 | c.1200A>C c.2597A>C c.2569A>C c.14264A>C (p.Asn4755Thr) c.14249A>C (p.Asn4750Thr) c.14246A>C (p.Asn4749Thr) c.14231A>C (p.Asn4744Thr) c.14261A>C (p.Asn4754Thr) c.14177A>C (p.Asn4726Thr) | |
| 19 | g.38578009A>G | CA405684699 | RYR1 | c.1200A>G c.2597A>G c.2569A>G c.14264A>G (p.Asn4755Ser) c.14249A>G (p.Asn4750Ser) c.14246A>G (p.Asn4749Ser) c.14231A>G (p.Asn4744Ser) c.14261A>G (p.Asn4754Ser) c.14177A>G (p.Asn4726Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578009A>T | CA405684702 | RYR1 | c.1200A>T c.2597A>T c.2569A>T c.14264A>T (p.Asn4755Ile) c.14249A>T (p.Asn4750Ile) c.14246A>T (p.Asn4749Ile) c.14231A>T (p.Asn4744Ile) c.14261A>T (p.Asn4754Ile) c.14177A>T (p.Asn4726Ile) | |
| 19 | g.38578010T>A | CA405684704 | RYR1 | c.1201T>A c.2598T>A c.2570T>A c.14265T>A (p.Asn4755Lys) c.14250T>A (p.Asn4750Lys) c.14247T>A (p.Asn4749Lys) c.14232T>A (p.Asn4744Lys) c.14262T>A (p.Asn4754Lys) c.14178T>A (p.Asn4726Lys) | |
| 19 | g.38578010T>C | CA507245889 | RYR1 | c.1201T>C c.2598T>C c.2570T>C c.14265T>C (p.Asn4755=) c.14250T>C (p.Asn4750=) c.14247T>C (p.Asn4749=) c.14232T>C (p.Asn4744=) c.14262T>C (p.Asn4754=) c.14178T>C (p.Asn4726=) | gnomAD v4 |
| 19 | g.38578010T>G | CA405684707 | RYR1 | c.1201T>G c.2598T>G c.2570T>G c.14265T>G (p.Asn4755Lys) c.14250T>G (p.Asn4750Lys) c.14247T>G (p.Asn4749Lys) c.14232T>G (p.Asn4744Lys) c.14262T>G (p.Asn4754Lys) c.14178T>G (p.Asn4726Lys) | |
| 19 | g.38578011G>A | CA061019 | RYR1 | c.1202G>A c.2599G>A c.2571G>A c.14266G>A (p.Glu4756Lys) c.14251G>A (p.Glu4751Lys) c.14248G>A (p.Glu4750Lys) c.14233G>A (p.Glu4745Lys) c.14263G>A (p.Glu4755Lys) c.14179G>A (p.Glu4727Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578011G>C | CA405684709 | RYR1 | c.1202G>C c.2599G>C c.2571G>C c.14266G>C (p.Glu4756Gln) c.14251G>C (p.Glu4751Gln) c.14248G>C (p.Glu4750Gln) c.14233G>C (p.Glu4745Gln) c.14263G>C (p.Glu4755Gln) c.14179G>C (p.Glu4727Gln) | |
| 19 | g.38578011G= | CA2335091316 | RYR1 | c.1202G= c.2599G= c.2571G= c.14266G= (p.Glu4756=) c.14251G= (p.Glu4751=) c.14248G= (p.Glu4750=) c.14233G= (p.Glu4745=) c.14263G= (p.Glu4755=) c.14179G= (p.Glu4727=) | |
| 19 | g.38578011G>T | CA405684710 | RYR1 | c.1202G>T c.2599G>T c.2571G>T c.14266G>T (p.Glu4756Ter) c.14251G>T (p.Glu4751Ter) c.14248G>T (p.Glu4750Ter) c.14233G>T (p.Glu4745Ter) c.14263G>T (p.Glu4755Ter) c.14179G>T (p.Glu4727Ter) | |
| 19 | g.38578012A>C | CA405684714 | RYR1 | c.1203A>C c.2600A>C c.2572A>C c.14267A>C (p.Glu4756Ala) c.14252A>C (p.Glu4751Ala) c.14249A>C (p.Glu4750Ala) c.14234A>C (p.Glu4745Ala) c.14264A>C (p.Glu4755Ala) c.14180A>C (p.Glu4727Ala) | |
| 19 | g.38578012A>G | CA405684715 | RYR1 | c.1203A>G c.2600A>G c.2572A>G c.14267A>G (p.Glu4756Gly) c.14252A>G (p.Glu4751Gly) c.14249A>G (p.Glu4750Gly) c.14234A>G (p.Glu4745Gly) c.14264A>G (p.Glu4755Gly) c.14180A>G (p.Glu4727Gly) | |
| 19 | g.38578012A>T | CA405684717 | RYR1 | c.1203A>T c.2600A>T c.2572A>T c.14267A>T (p.Glu4756Val) c.14252A>T (p.Glu4751Val) c.14249A>T (p.Glu4750Val) c.14234A>T (p.Glu4745Val) c.14264A>T (p.Glu4755Val) c.14180A>T (p.Glu4727Val) | |
| 19 | g.38578015_38578020dup | CA2814346164 | RYR1 | c.1206_1211dup c.2603_2608dup c.2575_2580dup c.14270_14275dup (p.Lys4758_Pro4759insArgLys) c.14255_14260dup (p.Lys4753_Pro4754insArgLys) c.14252_14257dup (p.Lys4752_Pro4753insArgLys) c.14237_14242dup (p.Lys4747_Pro4748insArgLys) c.14267_14272dup (p.Lys4757_Pro4758insArgLys) c.14183_14188dup (p.Lys4729_Pro4730insArgLys) | |
| 19 | g.38578013G>A | CA507245890 | RYR1 | c.1204G>A c.2601G>A c.2573G>A c.14268G>A (p.Glu4756=) c.14253G>A (p.Glu4751=) c.14250G>A (p.Glu4750=) c.14235G>A (p.Glu4745=) c.14265G>A (p.Glu4755=) c.14181G>A (p.Glu4727=) | ClinVar dbSNP |
| 19 | g.38578013G>C | CA405684720 | RYR1 | c.1204G>C c.2601G>C c.2573G>C c.14268G>C (p.Glu4756Asp) c.14253G>C (p.Glu4751Asp) c.14250G>C (p.Glu4750Asp) c.14235G>C (p.Glu4745Asp) c.14265G>C (p.Glu4755Asp) c.14181G>C (p.Glu4727Asp) | gnomAD v4 |
| 19 | g.38578013G= | CA2335091317 | RYR1 | c.1204G= c.2601G= c.2573G= c.14268G= (p.Glu4756=) c.14253G= (p.Glu4751=) c.14250G= (p.Glu4750=) c.14235G= (p.Glu4745=) c.14265G= (p.Glu4755=) c.14181G= (p.Glu4727=) | |
| 19 | g.38578013G>T | CA405684719 | RYR1 | c.1204G>T c.2601G>T c.2573G>T c.14268G>T (p.Glu4756Asp) c.14253G>T (p.Glu4751Asp) c.14250G>T (p.Glu4750Asp) c.14235G>T (p.Glu4745Asp) c.14265G>T (p.Glu4755Asp) c.14181G>T (p.Glu4727Asp) | |
| 19 | g.38578014C>A | CA405684721 | RYR1 | c.1205C>A c.2602C>A c.2574C>A c.14269C>A (p.Arg4757Ser) c.14254C>A (p.Arg4752Ser) c.14251C>A (p.Arg4751Ser) c.14236C>A (p.Arg4746Ser) c.14266C>A (p.Arg4756Ser) c.14182C>A (p.Arg4728Ser) | |
| 19 | g.38578014C= | CA2335091318 | RYR1 | c.1205C= c.2602C= c.2574C= c.14269C= (p.Arg4757=) c.14254C= (p.Arg4752=) c.14251C= (p.Arg4751=) c.14236C= (p.Arg4746=) c.14266C= (p.Arg4756=) c.14182C= (p.Arg4728=) | |
| 19 | g.38578014C>G | CA405684722 | RYR1 | c.1205C>G c.2602C>G c.2574C>G c.14269C>G (p.Arg4757Gly) c.14254C>G (p.Arg4752Gly) c.14251C>G (p.Arg4751Gly) c.14236C>G (p.Arg4746Gly) c.14266C>G (p.Arg4756Gly) c.14182C>G (p.Arg4728Gly) | |
| 19 | g.38578014C>T | CA061021 | RYR1 | c.1205C>T c.2602C>T c.2574C>T c.14269C>T (p.Arg4757Cys) c.14254C>T (p.Arg4752Cys) c.14251C>T (p.Arg4751Cys) c.14236C>T (p.Arg4746Cys) c.14266C>T (p.Arg4756Cys) c.14182C>T (p.Arg4728Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578015G>A | CA061023 | RYR1 | c.1206G>A c.2603G>A c.2575G>A c.14270G>A (p.Arg4757His) c.14255G>A (p.Arg4752His) c.14252G>A (p.Arg4751His) c.14237G>A (p.Arg4746His) c.14267G>A (p.Arg4756His) c.14183G>A (p.Arg4728His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38578015G>C | CA405684727 | RYR1 | c.1206G>C c.2603G>C c.2575G>C c.14270G>C (p.Arg4757Pro) c.14255G>C (p.Arg4752Pro) c.14252G>C (p.Arg4751Pro) c.14237G>C (p.Arg4746Pro) c.14267G>C (p.Arg4756Pro) c.14183G>C (p.Arg4728Pro) | |
| 19 | g.38578015G= | CA2335091319 | RYR1 | c.1206G= c.2603G= c.2575G= c.14270G= (p.Arg4757=) c.14255G= (p.Arg4752=) c.14252G= (p.Arg4751=) c.14237G= (p.Arg4746=) c.14267G= (p.Arg4756=) c.14183G= (p.Arg4728=) | |
| 19 | g.38578015G>T | CA405684729 | RYR1 | c.1206G>T c.2603G>T c.2575G>T c.14270G>T (p.Arg4757Leu) c.14255G>T (p.Arg4752Leu) c.14252G>T (p.Arg4751Leu) c.14237G>T (p.Arg4746Leu) c.14267G>T (p.Arg4756Leu) c.14183G>T (p.Arg4728Leu) | COSMIC |
| 19 | g.38578016C>A | CA507245892 | RYR1 | c.1207C>A c.2604C>A c.2576C>A c.14271C>A (p.Arg4757=) c.14256C>A (p.Arg4752=) c.14253C>A (p.Arg4751=) c.14238C>A (p.Arg4746=) c.14268C>A (p.Arg4756=) c.14184C>A (p.Arg4728=) | |
| 19 | g.38578016C= | CA2335091320 | RYR1 | c.1207C= c.2604C= c.2576C= c.14271C= (p.Arg4757=) c.14256C= (p.Arg4752=) c.14253C= (p.Arg4751=) c.14238C= (p.Arg4746=) c.14268C= (p.Arg4756=) c.14184C= (p.Arg4728=) | |
| 19 | g.38578016C>G | CA507245893 | RYR1 | c.1207C>G c.2604C>G c.2576C>G c.14271C>G (p.Arg4757=) c.14256C>G (p.Arg4752=) c.14253C>G (p.Arg4751=) c.14238C>G (p.Arg4746=) c.14268C>G (p.Arg4756=) c.14184C>G (p.Arg4728=) | gnomAD v4 |
| 19 | g.38578016C>T | CA507245891 | RYR1 | c.1207C>T c.2604C>T c.2576C>T c.14271C>T (p.Arg4757=) c.14256C>T (p.Arg4752=) c.14253C>T (p.Arg4751=) c.14238C>T (p.Arg4746=) c.14268C>T (p.Arg4756=) c.14184C>T (p.Arg4728=) | ClinVar dbSNP |
| 19 | g.38578017A= | CA2335091321 | RYR1 | c.1208A= c.2605A= c.2577A= c.14272A= (p.Lys4758=) c.14257A= (p.Lys4753=) c.14254A= (p.Lys4752=) c.14239A= (p.Lys4747=) c.14269A= (p.Lys4757=) c.14185A= (p.Lys4729=) | |
| 19 | g.38578017A>C | CA405684737 | RYR1 | c.1208A>C c.2605A>C c.2577A>C c.14272A>C (p.Lys4758Gln) c.14257A>C (p.Lys4753Gln) c.14254A>C (p.Lys4752Gln) c.14239A>C (p.Lys4747Gln) c.14269A>C (p.Lys4757Gln) c.14185A>C (p.Lys4729Gln) | dbSNP |
| 19 | g.38578017A>G | CA405684734 | RYR1 | c.1208A>G c.2605A>G c.2577A>G c.14272A>G (p.Lys4758Glu) c.14257A>G (p.Lys4753Glu) c.14254A>G (p.Lys4752Glu) c.14239A>G (p.Lys4747Glu) c.14269A>G (p.Lys4757Glu) c.14185A>G (p.Lys4729Glu) | |
| 19 | g.38578017A>T | CA405684731 | RYR1 | c.1208A>T c.2605A>T c.2577A>T c.14272A>T (p.Lys4758Ter) c.14257A>T (p.Lys4753Ter) c.14254A>T (p.Lys4752Ter) c.14239A>T (p.Lys4747Ter) c.14269A>T (p.Lys4757Ter) c.14185A>T (p.Lys4729Ter) | gnomAD v4 |
| 19 | g.38578018A= | CA2335091322 | RYR1 | c.1209A= c.2606A= c.2578A= c.14273A= (p.Lys4758=) c.14258A= (p.Lys4753=) c.14255A= (p.Lys4752=) c.14240A= (p.Lys4747=) c.14270A= (p.Lys4757=) c.14186A= (p.Lys4729=) | |
| 19 | g.38578018A>C | CA405684739 | RYR1 | c.1209A>C c.2606A>C c.2578A>C c.14273A>C (p.Lys4758Thr) c.14258A>C (p.Lys4753Thr) c.14255A>C (p.Lys4752Thr) c.14240A>C (p.Lys4747Thr) c.14270A>C (p.Lys4757Thr) c.14186A>C (p.Lys4729Thr) | |
| 19 | g.38578018A>G | CA405684743 | RYR1 | c.1209A>G c.2606A>G c.2578A>G c.14273A>G (p.Lys4758Arg) c.14258A>G (p.Lys4753Arg) c.14255A>G (p.Lys4752Arg) c.14240A>G (p.Lys4747Arg) c.14270A>G (p.Lys4757Arg) c.14186A>G (p.Lys4729Arg) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38578018A>T | CA405684745 | RYR1 | c.1209A>T c.2606A>T c.2578A>T c.14273A>T (p.Lys4758Met) c.14258A>T (p.Lys4753Met) c.14255A>T (p.Lys4752Met) c.14240A>T (p.Lys4747Met) c.14270A>T (p.Lys4757Met) c.14186A>T (p.Lys4729Met) | |
| 19 | g.38578019G>A | CA061027 | RYR1 | c.1210G>A c.2607G>A c.2579G>A c.14274G>A (p.Lys4758=) c.14259G>A (p.Lys4753=) c.14256G>A (p.Lys4752=) c.14241G>A (p.Lys4747=) c.14271G>A (p.Lys4757=) c.14187G>A (p.Lys4729=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38578019G>C | CA405684748 | RYR1 | c.1210G>C c.2607G>C c.2579G>C c.14274G>C (p.Lys4758Asn) c.14259G>C (p.Lys4753Asn) c.14256G>C (p.Lys4752Asn) c.14241G>C (p.Lys4747Asn) c.14271G>C (p.Lys4757Asn) c.14187G>C (p.Lys4729Asn) | |
| 19 | g.38578019G= | CA2335091323 | RYR1 | c.1210G= c.2607G= c.2579G= c.14274G= (p.Lys4758=) c.14259G= (p.Lys4753=) c.14256G= (p.Lys4752=) c.14241G= (p.Lys4747=) c.14271G= (p.Lys4757=) c.14187G= (p.Lys4729=) | |
| 19 | g.38578019G>T | CA405684750 | RYR1 | c.1210G>T c.2607G>T c.2579G>T c.14274G>T (p.Lys4758Asn) c.14259G>T (p.Lys4753Asn) c.14256G>T (p.Lys4752Asn) c.14241G>T (p.Lys4747Asn) c.14271G>T (p.Lys4757Asn) c.14187G>T (p.Lys4729Asn) | |
| 19 | g.38578020C>A | CA405684753 | RYR1 | c.1211C>A c.2608C>A c.2580C>A c.14275C>A (p.Pro4759Thr) c.14260C>A (p.Pro4754Thr) c.14257C>A (p.Pro4753Thr) c.14242C>A (p.Pro4748Thr) c.14272C>A (p.Pro4758Thr) c.14188C>A (p.Pro4730Thr) | |
| 19 | g.38578020C= | CA2335091324 | RYR1 | c.1211C= c.2608C= c.2580C= c.14275C= (p.Pro4759=) c.14260C= (p.Pro4754=) c.14257C= (p.Pro4753=) c.14242C= (p.Pro4748=) c.14272C= (p.Pro4758=) c.14188C= (p.Pro4730=) | |
| 19 | g.38578020C>G | CA405684755 | RYR1 | c.1211C>G c.2608C>G c.2580C>G c.14275C>G (p.Pro4759Ala) c.14260C>G (p.Pro4754Ala) c.14257C>G (p.Pro4753Ala) c.14242C>G (p.Pro4748Ala) c.14272C>G (p.Pro4758Ala) c.14188C>G (p.Pro4730Ala) | |
| 19 | g.38578020C>T | CA061031 | RYR1 | c.1211C>T c.2608C>T c.2580C>T c.14275C>T (p.Pro4759Ser) c.14260C>T (p.Pro4754Ser) c.14257C>T (p.Pro4753Ser) c.14242C>T (p.Pro4748Ser) c.14272C>T (p.Pro4758Ser) c.14188C>T (p.Pro4730Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |