Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38578148A>C | CA405684997 | RYR1 | c.1244A>C c.2641A>C c.2613A>C c.14308A>C (p.Met4770Leu) c.14293A>C (p.Met4765Leu) c.14290A>C (p.Met4764Leu) c.14275A>C (p.Met4759Leu) c.14305A>C (p.Met4769Leu) c.14221A>C (p.Met4741Leu) | gnomAD v4 |
19 | g.38578148A>G | CA405685001 | RYR1 | c.1244A>G c.2641A>G c.2613A>G c.14308A>G (p.Met4770Val) c.14293A>G (p.Met4765Val) c.14290A>G (p.Met4764Val) c.14275A>G (p.Met4759Val) c.14305A>G (p.Met4769Val) c.14221A>G (p.Met4741Val) | |
19 | g.38578148A>T | CA405685013 | RYR1 | c.1244A>T c.2641A>T c.2613A>T c.14308A>T (p.Met4770Leu) c.14293A>T (p.Met4765Leu) c.14290A>T (p.Met4764Leu) c.14275A>T (p.Met4759Leu) c.14305A>T (p.Met4769Leu) c.14221A>T (p.Met4741Leu) | |
19 | g.38578149T>A | CA405685020 | RYR1 | c.1245T>A c.2642T>A c.2614T>A c.14309T>A (p.Met4770Lys) c.14294T>A (p.Met4765Lys) c.14291T>A (p.Met4764Lys) c.14276T>A (p.Met4759Lys) c.14306T>A (p.Met4769Lys) c.14222T>A (p.Met4741Lys) | gnomAD v4 |
19 | g.38578149T>C | CA405685014 | RYR1 | c.1245T>C c.2642T>C c.2614T>C c.14309T>C (p.Met4770Thr) c.14294T>C (p.Met4765Thr) c.14291T>C (p.Met4764Thr) c.14276T>C (p.Met4759Thr) c.14306T>C (p.Met4769Thr) c.14222T>C (p.Met4741Thr) | dbSNP |
19 | g.38578149T>G | CA405685017 | RYR1 | c.1245T>G c.2642T>G c.2614T>G c.14309T>G (p.Met4770Arg) c.14294T>G (p.Met4765Arg) c.14291T>G (p.Met4764Arg) c.14276T>G (p.Met4759Arg) c.14306T>G (p.Met4769Arg) c.14222T>G (p.Met4741Arg) | |
19 | g.38578149T= | CA2335091393 | RYR1 | c.1245T= c.2642T= c.2614T= c.14309T= (p.Met4770=) c.14294T= (p.Met4765=) c.14291T= (p.Met4764=) c.14276T= (p.Met4759=) c.14306T= (p.Met4769=) c.14222T= (p.Met4741=) | |
19 | g.38578150G>A | CA405685034 | RYR1 | c.1246G>A c.2643G>A c.2615G>A c.14310G>A (p.Met4770Ile) c.14295G>A (p.Met4765Ile) c.14292G>A (p.Met4764Ile) c.14277G>A (p.Met4759Ile) c.14307G>A (p.Met4769Ile) c.14223G>A (p.Met4741Ile) | gnomAD v4 |
19 | g.38578150G>C | CA405685036 | RYR1 | c.1246G>C c.2643G>C c.2615G>C c.14310G>C (p.Met4770Ile) c.14295G>C (p.Met4765Ile) c.14292G>C (p.Met4764Ile) c.14277G>C (p.Met4759Ile) c.14307G>C (p.Met4769Ile) c.14223G>C (p.Met4741Ile) | |
19 | g.38578150G= | CA2335091394 | RYR1 | c.1246G= c.2643G= c.2615G= c.14310G= (p.Met4770=) c.14295G= (p.Met4765=) c.14292G= (p.Met4764=) c.14277G= (p.Met4759=) c.14307G= (p.Met4769=) c.14223G= (p.Met4741=) | |
19 | g.38578150G>T | CA405685039 | RYR1 | c.1246G>T c.2643G>T c.2615G>T c.14310G>T (p.Met4770Ile) c.14295G>T (p.Met4765Ile) c.14292G>T (p.Met4764Ile) c.14277G>T (p.Met4759Ile) c.14307G>T (p.Met4769Ile) c.14223G>T (p.Met4741Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578151T>A | CA405685041 | RYR1 | c.1247T>A c.2644T>A c.2616T>A c.14311T>A (p.Ser4771Thr) c.14296T>A (p.Ser4766Thr) c.14293T>A (p.Ser4765Thr) c.14278T>A (p.Ser4760Thr) c.14308T>A (p.Ser4770Thr) c.14224T>A (p.Ser4742Thr) | |
19 | g.38578151T>C | CA405685045 | RYR1 | c.1247T>C c.2644T>C c.2616T>C c.14311T>C (p.Ser4771Pro) c.14296T>C (p.Ser4766Pro) c.14293T>C (p.Ser4765Pro) c.14278T>C (p.Ser4760Pro) c.14308T>C (p.Ser4770Pro) c.14224T>C (p.Ser4742Pro) | |
19 | g.38578151T>G | CA405685046 | RYR1 | c.1247T>G c.2644T>G c.2616T>G c.14311T>G (p.Ser4771Ala) c.14296T>G (p.Ser4766Ala) c.14293T>G (p.Ser4765Ala) c.14278T>G (p.Ser4760Ala) c.14308T>G (p.Ser4770Ala) c.14224T>G (p.Ser4742Ala) | |
19 | g.38578152C>A | CA405685048 | RYR1 | c.1248C>A c.2645C>A c.2617C>A c.14312C>A (p.Ser4771Tyr) c.14297C>A (p.Ser4766Tyr) c.14294C>A (p.Ser4765Tyr) c.14279C>A (p.Ser4760Tyr) c.14309C>A (p.Ser4770Tyr) c.14225C>A (p.Ser4742Tyr) | |
19 | g.38578152C>G | CA405685049 | RYR1 | c.1248C>G c.2645C>G c.2617C>G c.14312C>G (p.Ser4771Cys) c.14297C>G (p.Ser4766Cys) c.14294C>G (p.Ser4765Cys) c.14279C>G (p.Ser4760Cys) c.14309C>G (p.Ser4770Cys) c.14225C>G (p.Ser4742Cys) | |
19 | g.38578152C>T | CA405685050 | RYR1 | c.1248C>T c.2645C>T c.2617C>T c.14312C>T (p.Ser4771Phe) c.14297C>T (p.Ser4766Phe) c.14294C>T (p.Ser4765Phe) c.14279C>T (p.Ser4760Phe) c.14309C>T (p.Ser4770Phe) c.14225C>T (p.Ser4742Phe) | |
19 | g.38578153C>A | CA507245921 | RYR1 | c.1249C>A c.2646C>A c.2618C>A c.14313C>A (p.Ser4771=) c.14298C>A (p.Ser4766=) c.14295C>A (p.Ser4765=) c.14280C>A (p.Ser4760=) c.14310C>A (p.Ser4770=) c.14226C>A (p.Ser4742=) | |
19 | g.38578153C= | CA2335091395 | RYR1 | c.1249C= c.2646C= c.2618C= c.14313C= (p.Ser4771=) c.14298C= (p.Ser4766=) c.14295C= (p.Ser4765=) c.14280C= (p.Ser4760=) c.14310C= (p.Ser4770=) c.14226C= (p.Ser4742=) | |
19 | g.38578153C>G | CA507245922 | RYR1 | c.1249C>G c.2646C>G c.2618C>G c.14313C>G (p.Ser4771=) c.14298C>G (p.Ser4766=) c.14295C>G (p.Ser4765=) c.14280C>G (p.Ser4760=) c.14310C>G (p.Ser4770=) c.14226C>G (p.Ser4742=) | dbSNP |
19 | g.38578153C>T | CA308120309 | RYR1 | c.1249C>T c.2646C>T c.2618C>T c.14313C>T (p.Ser4771=) c.14298C>T (p.Ser4766=) c.14295C>T (p.Ser4765=) c.14280C>T (p.Ser4760=) c.14310C>T (p.Ser4770=) c.14226C>T (p.Ser4742=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578154A= | CA2335091396 | RYR1 | c.1250A= c.2647A= c.2619A= c.14314A= (p.Ile4772=) c.14299A= (p.Ile4767=) c.14296A= (p.Ile4766=) c.14281A= (p.Ile4761=) c.14311A= (p.Ile4771=) c.14227A= (p.Ile4743=) | |
19 | g.38578154A>C | CA405685052 | RYR1 | c.1250A>C c.2647A>C c.2619A>C c.14314A>C (p.Ile4772Leu) c.14299A>C (p.Ile4767Leu) c.14296A>C (p.Ile4766Leu) c.14281A>C (p.Ile4761Leu) c.14311A>C (p.Ile4771Leu) c.14227A>C (p.Ile4743Leu) | |
19 | g.38578154A>G | CA061105 | RYR1 | c.1250A>G c.2647A>G c.2619A>G c.14314A>G (p.Ile4772Val) c.14299A>G (p.Ile4767Val) c.14296A>G (p.Ile4766Val) c.14281A>G (p.Ile4761Val) c.14311A>G (p.Ile4771Val) c.14227A>G (p.Ile4743Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578154A>T | CA405685057 | RYR1 | c.1250A>T c.2647A>T c.2619A>T c.14314A>T (p.Ile4772Phe) c.14299A>T (p.Ile4767Phe) c.14296A>T (p.Ile4766Phe) c.14281A>T (p.Ile4761Phe) c.14311A>T (p.Ile4771Phe) c.14227A>T (p.Ile4743Phe) | |
19 | g.38578155T>A | CA405685066 | RYR1 | c.1251T>A c.2648T>A c.2620T>A c.14315T>A (p.Ile4772Asn) c.14300T>A (p.Ile4767Asn) c.14297T>A (p.Ile4766Asn) c.14282T>A (p.Ile4761Asn) c.14312T>A (p.Ile4771Asn) c.14228T>A (p.Ile4743Asn) | |
19 | g.38578155T>C | CA405685063 | RYR1 | c.1251T>C c.2648T>C c.2620T>C c.14315T>C (p.Ile4772Thr) c.14300T>C (p.Ile4767Thr) c.14297T>C (p.Ile4766Thr) c.14282T>C (p.Ile4761Thr) c.14312T>C (p.Ile4771Thr) c.14228T>C (p.Ile4743Thr) | |
19 | g.38578155T>G | CA405685061 | RYR1 | c.1251T>G c.2648T>G c.2620T>G c.14315T>G (p.Ile4772Ser) c.14300T>G (p.Ile4767Ser) c.14297T>G (p.Ile4766Ser) c.14282T>G (p.Ile4761Ser) c.14312T>G (p.Ile4771Ser) c.14228T>G (p.Ile4743Ser) | |
19 | g.38578156C>A | CA507245923 | RYR1 | c.1252C>A c.2649C>A c.2621C>A c.14316C>A (p.Ile4772=) c.14301C>A (p.Ile4767=) c.14298C>A (p.Ile4766=) c.14283C>A (p.Ile4761=) c.14313C>A (p.Ile4771=) c.14229C>A (p.Ile4743=) | |
19 | g.38578156C= | CA2335091397 | RYR1 | c.1252C= c.2649C= c.2621C= c.14316C= (p.Ile4772=) c.14301C= (p.Ile4767=) c.14298C= (p.Ile4766=) c.14283C= (p.Ile4761=) c.14313C= (p.Ile4771=) c.14229C= (p.Ile4743=) | |
19 | g.38578156C>G | CA405685071 | RYR1 | c.1252C>G c.2649C>G c.2621C>G c.14316C>G (p.Ile4772Met) c.14301C>G (p.Ile4767Met) c.14298C>G (p.Ile4766Met) c.14283C>G (p.Ile4761Met) c.14313C>G (p.Ile4771Met) c.14229C>G (p.Ile4743Met) | |
19 | g.38578156C>T | CA061106 | RYR1 | c.1252C>T c.2649C>T c.2621C>T c.14316C>T (p.Ile4772=) c.14301C>T (p.Ile4767=) c.14298C>T (p.Ile4766=) c.14283C>T (p.Ile4761=) c.14313C>T (p.Ile4771=) c.14229C>T (p.Ile4743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578157G>A | CA061110 | RYR1 | c.1253G>A c.2650G>A c.2622G>A c.14317G>A (p.Asp4773Asn) c.14302G>A (p.Asp4768Asn) c.14299G>A (p.Asp4767Asn) c.14284G>A (p.Asp4762Asn) c.14314G>A (p.Asp4772Asn) c.14230G>A (p.Asp4744Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578157G>C | CA405685079 | RYR1 | c.1253G>C c.2650G>C c.2622G>C c.14317G>C (p.Asp4773His) c.14302G>C (p.Asp4768His) c.14299G>C (p.Asp4767His) c.14284G>C (p.Asp4762His) c.14314G>C (p.Asp4772His) c.14230G>C (p.Asp4744His) | dbSNP gnomAD v4 |
19 | g.38578157G= | CA2335091398 | RYR1 | c.1253G= c.2650G= c.2622G= c.14317G= (p.Asp4773=) c.14302G= (p.Asp4768=) c.14299G= (p.Asp4767=) c.14284G= (p.Asp4762=) c.14314G= (p.Asp4772=) c.14230G= (p.Asp4744=) | |
19 | g.38578157G>T | CA061111 | RYR1 | c.1253G>T c.2650G>T c.2622G>T c.14317G>T (p.Asp4773Tyr) c.14302G>T (p.Asp4768Tyr) c.14299G>T (p.Asp4767Tyr) c.14284G>T (p.Asp4762Tyr) c.14314G>T (p.Asp4772Tyr) c.14230G>T (p.Asp4744Tyr) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
19 | g.38578158A= | CA2335091399 | RYR1 | c.1254A= c.2651A= c.2623A= c.14318A= (p.Asp4773=) c.14303A= (p.Asp4768=) c.14300A= (p.Asp4767=) c.14285A= (p.Asp4762=) c.14315A= (p.Asp4772=) c.14231A= (p.Asp4744=) | |
19 | g.38578158A>C | CA405685087 | RYR1 | c.1254A>C c.2651A>C c.2623A>C c.14318A>C (p.Asp4773Ala) c.14303A>C (p.Asp4768Ala) c.14300A>C (p.Asp4767Ala) c.14285A>C (p.Asp4762Ala) c.14315A>C (p.Asp4772Ala) c.14231A>C (p.Asp4744Ala) | |
19 | g.38578158A>G | CA061115 | RYR1 | c.1254A>G c.2651A>G c.2623A>G c.14318A>G (p.Asp4773Gly) c.14303A>G (p.Asp4768Gly) c.14300A>G (p.Asp4767Gly) c.14285A>G (p.Asp4762Gly) c.14315A>G (p.Asp4772Gly) c.14231A>G (p.Asp4744Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578158A>T | CA405685093 | RYR1 | c.1254A>T c.2651A>T c.2623A>T c.14318A>T (p.Asp4773Val) c.14303A>T (p.Asp4768Val) c.14300A>T (p.Asp4767Val) c.14285A>T (p.Asp4762Val) c.14315A>T (p.Asp4772Val) c.14231A>T (p.Asp4744Val) | |
19 | g.38578159T>A | CA405685095 | RYR1 | c.1255T>A c.2652T>A c.2624T>A c.14319T>A (p.Asp4773Glu) c.14304T>A (p.Asp4768Glu) c.14301T>A (p.Asp4767Glu) c.14286T>A (p.Asp4762Glu) c.14316T>A (p.Asp4772Glu) c.14232T>A (p.Asp4744Glu) | |
19 | g.38578159T>C | CA507245924 | RYR1 | c.1255T>C c.2652T>C c.2624T>C c.14319T>C (p.Asp4773=) c.14304T>C (p.Asp4768=) c.14301T>C (p.Asp4767=) c.14286T>C (p.Asp4762=) c.14316T>C (p.Asp4772=) c.14232T>C (p.Asp4744=) | gnomAD v4 |
19 | g.38578159T>G | CA405685098 | RYR1 | c.1255T>G c.2652T>G c.2624T>G c.14319T>G (p.Asp4773Glu) c.14304T>G (p.Asp4768Glu) c.14301T>G (p.Asp4767Glu) c.14286T>G (p.Asp4762Glu) c.14316T>G (p.Asp4772Glu) c.14232T>G (p.Asp4744Glu) | ClinVar |
19 | g.38578160G>A | CA081184 | RYR1 | c.1256G>A c.2653G>A c.2625G>A c.14320G>A (p.Val4774Ile) c.14305G>A (p.Val4769Ile) c.14302G>A (p.Val4768Ile) c.14287G>A (p.Val4763Ile) c.14317G>A (p.Val4773Ile) c.14233G>A (p.Val4745Ile) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578160G>C | CA405685108 | RYR1 | c.1256G>C c.2653G>C c.2625G>C c.14320G>C (p.Val4774Leu) c.14305G>C (p.Val4769Leu) c.14302G>C (p.Val4768Leu) c.14287G>C (p.Val4763Leu) c.14317G>C (p.Val4773Leu) c.14233G>C (p.Val4745Leu) | |
19 | g.38578160G= | CA2335091400 | RYR1 | c.1256G= c.2653G= c.2625G= c.14320G= (p.Val4774=) c.14305G= (p.Val4769=) c.14302G= (p.Val4768=) c.14287G= (p.Val4763=) c.14317G= (p.Val4773=) c.14233G= (p.Val4745=) | |
19 | g.38578160G>T | CA081185 | RYR1 | c.1256G>T c.2653G>T c.2625G>T c.14320G>T (p.Val4774Phe) c.14305G>T (p.Val4769Phe) c.14302G>T (p.Val4768Phe) c.14287G>T (p.Val4763Phe) c.14317G>T (p.Val4773Phe) c.14233G>T (p.Val4745Phe) | |
19 | g.38578161T>A | CA405685116 | RYR1 | c.1257T>A c.2654T>A c.2626T>A c.14321T>A (p.Val4774Asp) c.14306T>A (p.Val4769Asp) c.14303T>A (p.Val4768Asp) c.14288T>A (p.Val4763Asp) c.14318T>A (p.Val4773Asp) c.14234T>A (p.Val4745Asp) | |
19 | g.38578161T>C | CA405685120 | RYR1 | c.1257T>C c.2654T>C c.2626T>C c.14321T>C (p.Val4774Ala) c.14306T>C (p.Val4769Ala) c.14303T>C (p.Val4768Ala) c.14288T>C (p.Val4763Ala) c.14318T>C (p.Val4773Ala) c.14234T>C (p.Val4745Ala) | |
19 | g.38578161T>G | CA405685113 | RYR1 | c.1257T>G c.2654T>G c.2626T>G c.14321T>G (p.Val4774Gly) c.14306T>G (p.Val4769Gly) c.14303T>G (p.Val4768Gly) c.14288T>G (p.Val4763Gly) c.14318T>G (p.Val4773Gly) c.14234T>G (p.Val4745Gly) | |
19 | g.38578162C>A | CA507245925 | RYR1 | c.1258C>A c.2655C>A c.2627C>A c.14322C>A (p.Val4774=) c.14307C>A (p.Val4769=) c.14304C>A (p.Val4768=) c.14289C>A (p.Val4763=) c.14319C>A (p.Val4773=) c.14235C>A (p.Val4745=) | |
19 | g.38578162C>G | CA507245926 | RYR1 | c.1258C>G c.2655C>G c.2627C>G c.14322C>G (p.Val4774=) c.14307C>G (p.Val4769=) c.14304C>G (p.Val4768=) c.14289C>G (p.Val4763=) c.14319C>G (p.Val4773=) c.14235C>G (p.Val4745=) | gnomAD v4 |
19 | g.38578162C>T | CA507245927 | RYR1 | c.1258C>T c.2655C>T c.2627C>T c.14322C>T (p.Val4774=) c.14307C>T (p.Val4769=) c.14304C>T (p.Val4768=) c.14289C>T (p.Val4763=) c.14319C>T (p.Val4773=) c.14235C>T (p.Val4745=) | |
19 | g.38578163A>C | CA405685123 | RYR1 | c.1259A>C c.2656A>C c.2628A>C c.14323A>C (p.Lys4775Gln) c.14308A>C (p.Lys4770Gln) c.14305A>C (p.Lys4769Gln) c.14290A>C (p.Lys4764Gln) c.14320A>C (p.Lys4774Gln) c.14236A>C (p.Lys4746Gln) | |
19 | g.38578163A>G | CA405685128 | RYR1 | c.1259A>G c.2656A>G c.2628A>G c.14323A>G (p.Lys4775Glu) c.14308A>G (p.Lys4770Glu) c.14305A>G (p.Lys4769Glu) c.14290A>G (p.Lys4764Glu) c.14320A>G (p.Lys4774Glu) c.14236A>G (p.Lys4746Glu) | |
19 | g.38578163A>T | CA405685126 | RYR1 | c.1259A>T c.2656A>T c.2628A>T c.14323A>T (p.Lys4775Ter) c.14308A>T (p.Lys4770Ter) c.14305A>T (p.Lys4769Ter) c.14290A>T (p.Lys4764Ter) c.14320A>T (p.Lys4774Ter) c.14236A>T (p.Lys4746Ter) | |
19 | g.38578164A= | CA2335091401 | RYR1 | c.1260A= c.2657A= c.2629A= c.14324A= (p.Lys4775=) c.14309A= (p.Lys4770=) c.14306A= (p.Lys4769=) c.14291A= (p.Lys4764=) c.14321A= (p.Lys4774=) c.14237A= (p.Lys4746=) | |
19 | g.38578164A>C | CA405685131 | RYR1 | c.1260A>C c.2657A>C c.2629A>C c.14324A>C (p.Lys4775Thr) c.14309A>C (p.Lys4770Thr) c.14306A>C (p.Lys4769Thr) c.14291A>C (p.Lys4764Thr) c.14321A>C (p.Lys4774Thr) c.14237A>C (p.Lys4746Thr) | |
19 | g.38578164A>G | CA405685134 | RYR1 | c.1260A>G c.2657A>G c.2629A>G c.14324A>G (p.Lys4775Arg) c.14309A>G (p.Lys4770Arg) c.14306A>G (p.Lys4769Arg) c.14291A>G (p.Lys4764Arg) c.14321A>G (p.Lys4774Arg) c.14237A>G (p.Lys4746Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578164A>T | CA405685140 | RYR1 | c.1260A>T c.2657A>T c.2629A>T c.14324A>T (p.Lys4775Met) c.14309A>T (p.Lys4770Met) c.14306A>T (p.Lys4769Met) c.14291A>T (p.Lys4764Met) c.14321A>T (p.Lys4774Met) c.14237A>T (p.Lys4746Met) | |
19 | g.38578165G>A | CA308120332 | RYR1 | c.1261G>A c.2658G>A c.2630G>A c.14325G>A (p.Lys4775=) c.14310G>A (p.Lys4770=) c.14307G>A (p.Lys4769=) c.14292G>A (p.Lys4764=) c.14322G>A (p.Lys4774=) c.14238G>A (p.Lys4746=) | dbSNP |
19 | g.38578165G>C | CA405685154 | RYR1 | c.1261G>C c.2658G>C c.2630G>C c.14325G>C (p.Lys4775Asn) c.14310G>C (p.Lys4770Asn) c.14307G>C (p.Lys4769Asn) c.14292G>C (p.Lys4764Asn) c.14322G>C (p.Lys4774Asn) c.14238G>C (p.Lys4746Asn) | COSMIC |
19 | g.38578165G= | CA2335091402 | RYR1 | c.1261G= c.2658G= c.2630G= c.14325G= (p.Lys4775=) c.14310G= (p.Lys4770=) c.14307G= (p.Lys4769=) c.14292G= (p.Lys4764=) c.14322G= (p.Lys4774=) c.14238G= (p.Lys4746=) | |
19 | g.38578165G>T | CA405685156 | RYR1 | c.1261G>T c.2658G>T c.2630G>T c.14325G>T (p.Lys4775Asn) c.14310G>T (p.Lys4770Asn) c.14307G>T (p.Lys4769Asn) c.14292G>T (p.Lys4764Asn) c.14322G>T (p.Lys4774Asn) c.14238G>T (p.Lys4746Asn) | |
19 | g.38578166T>A | CA405685159 | RYR1 | c.1262T>A c.2659T>A c.2631T>A c.14326T>A (p.Tyr4776Asn) c.14311T>A (p.Tyr4771Asn) c.14308T>A (p.Tyr4770Asn) c.14293T>A (p.Tyr4765Asn) c.14323T>A (p.Tyr4775Asn) c.14239T>A (p.Tyr4747Asn) | |
19 | g.38578166T>C | CA405685165 | RYR1 | c.1262T>C c.2659T>C c.2631T>C c.14326T>C (p.Tyr4776His) c.14311T>C (p.Tyr4771His) c.14308T>C (p.Tyr4770His) c.14293T>C (p.Tyr4765His) c.14323T>C (p.Tyr4775His) c.14239T>C (p.Tyr4747His) | ClinVar |
19 | g.38578166T>G | CA405685169 | RYR1 | c.1262T>G c.2659T>G c.2631T>G c.14326T>G (p.Tyr4776Asp) c.14311T>G (p.Tyr4771Asp) c.14308T>G (p.Tyr4770Asp) c.14293T>G (p.Tyr4765Asp) c.14323T>G (p.Tyr4775Asp) c.14239T>G (p.Tyr4747Asp) | |
19 | g.38578167A>C | CA405685175 | RYR1 | c.1263A>C c.2660A>C c.2632A>C c.14327A>C (p.Tyr4776Ser) c.14312A>C (p.Tyr4771Ser) c.14309A>C (p.Tyr4770Ser) c.14294A>C (p.Tyr4765Ser) c.14324A>C (p.Tyr4775Ser) c.14240A>C (p.Tyr4747Ser) | |
19 | g.38578167A>G | CA405685177 | RYR1 | c.1263A>G c.2660A>G c.2632A>G c.14327A>G (p.Tyr4776Cys) c.14312A>G (p.Tyr4771Cys) c.14309A>G (p.Tyr4770Cys) c.14294A>G (p.Tyr4765Cys) c.14324A>G (p.Tyr4775Cys) c.14240A>G (p.Tyr4747Cys) | gnomAD v4 |
19 | g.38578167A>T | CA405685178 | RYR1 | c.1263A>T c.2660A>T c.2632A>T c.14327A>T (p.Tyr4776Phe) c.14312A>T (p.Tyr4771Phe) c.14309A>T (p.Tyr4770Phe) c.14294A>T (p.Tyr4765Phe) c.14324A>T (p.Tyr4775Phe) c.14240A>T (p.Tyr4747Phe) | |
19 | g.38578168C>A | CA405685184 | RYR1 | c.1264C>A c.2661C>A c.2633C>A c.14328C>A (p.Tyr4776Ter) c.14313C>A (p.Tyr4771Ter) c.14310C>A (p.Tyr4770Ter) c.14295C>A (p.Tyr4765Ter) c.14325C>A (p.Tyr4775Ter) c.14241C>A (p.Tyr4747Ter) | |
19 | g.38578168C= | CA2335091403 | RYR1 | c.1264C= c.2661C= c.2633C= c.14328C= (p.Tyr4776=) c.14313C= (p.Tyr4771=) c.14310C= (p.Tyr4770=) c.14295C= (p.Tyr4765=) c.14325C= (p.Tyr4775=) c.14241C= (p.Tyr4747=) | |
19 | g.38578168C>G | CA405685181 | RYR1 | c.1264C>G c.2661C>G c.2633C>G c.14328C>G (p.Tyr4776Ter) c.14313C>G (p.Tyr4771Ter) c.14310C>G (p.Tyr4770Ter) c.14295C>G (p.Tyr4765Ter) c.14325C>G (p.Tyr4775Ter) c.14241C>G (p.Tyr4747Ter) | |
19 | g.38578168C>T | CA507245928 | RYR1 | c.1264C>T c.2661C>T c.2633C>T c.14328C>T (p.Tyr4776=) c.14313C>T (p.Tyr4771=) c.14310C>T (p.Tyr4770=) c.14295C>T (p.Tyr4765=) c.14325C>T (p.Tyr4775=) c.14241C>T (p.Tyr4747=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578169C>A | CA308120335 | RYR1 | c.1265C>A c.2662C>A c.2634C>A c.14329C>A (p.Gln4777Lys) c.14314C>A (p.Gln4772Lys) c.14311C>A (p.Gln4771Lys) c.14296C>A (p.Gln4766Lys) c.14326C>A (p.Gln4776Lys) c.14242C>A (p.Gln4748Lys) | dbSNP |
19 | g.38578169C= | CA2335091404 | RYR1 | c.1265C= c.2662C= c.2634C= c.14329C= (p.Gln4777=) c.14314C= (p.Gln4772=) c.14311C= (p.Gln4771=) c.14296C= (p.Gln4766=) c.14326C= (p.Gln4776=) c.14242C= (p.Gln4748=) | |
19 | g.38578169C>G | CA405685185 | RYR1 | c.1265C>G c.2662C>G c.2634C>G c.14329C>G (p.Gln4777Glu) c.14314C>G (p.Gln4772Glu) c.14311C>G (p.Gln4771Glu) c.14296C>G (p.Gln4766Glu) c.14326C>G (p.Gln4776Glu) c.14242C>G (p.Gln4748Glu) | |
19 | g.38578169C>T | CA405685186 | RYR1 | c.1265C>T c.2662C>T c.2634C>T c.14329C>T (p.Gln4777Ter) c.14314C>T (p.Gln4772Ter) c.14311C>T (p.Gln4771Ter) c.14296C>T (p.Gln4766Ter) c.14326C>T (p.Gln4776Ter) c.14242C>T (p.Gln4748Ter) | gnomAD v4 |
19 | g.38578170A>C | CA405685187 | RYR1 | c.1266A>C c.2663A>C c.2635A>C c.14330A>C (p.Gln4777Pro) c.14315A>C (p.Gln4772Pro) c.14312A>C (p.Gln4771Pro) c.14297A>C (p.Gln4766Pro) c.14327A>C (p.Gln4776Pro) c.14243A>C (p.Gln4748Pro) | |
19 | g.38578170A>G | CA405685188 | RYR1 | c.1266A>G c.2663A>G c.2635A>G c.14330A>G (p.Gln4777Arg) c.14315A>G (p.Gln4772Arg) c.14312A>G (p.Gln4771Arg) c.14297A>G (p.Gln4766Arg) c.14327A>G (p.Gln4776Arg) c.14243A>G (p.Gln4748Arg) | |
19 | g.38578170A>T | CA405685191 | RYR1 | c.1266A>T c.2663A>T c.2635A>T c.14330A>T (p.Gln4777Leu) c.14315A>T (p.Gln4772Leu) c.14312A>T (p.Gln4771Leu) c.14297A>T (p.Gln4766Leu) c.14327A>T (p.Gln4776Leu) c.14243A>T (p.Gln4748Leu) | |
19 | g.38578171G>A | CA507245929 | RYR1 | c.1267G>A c.2664G>A c.2636G>A c.14331G>A (p.Gln4777=) c.14316G>A (p.Gln4772=) c.14313G>A (p.Gln4771=) c.14298G>A (p.Gln4766=) c.14328G>A (p.Gln4776=) c.14244G>A (p.Gln4748=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578171G>C | CA061117 | RYR1 | c.1267G>C c.2664G>C c.2636G>C c.14331G>C (p.Gln4777His) c.14316G>C (p.Gln4772His) c.14313G>C (p.Gln4771His) c.14298G>C (p.Gln4766His) c.14328G>C (p.Gln4776His) c.14244G>C (p.Gln4748His) | dbSNP ExAC gnomAD v2 |
19 | g.38578171G= | CA2335091405 | RYR1 | c.1267G= c.2664G= c.2636G= c.14331G= (p.Gln4777=) c.14316G= (p.Gln4772=) c.14313G= (p.Gln4771=) c.14298G= (p.Gln4766=) c.14328G= (p.Gln4776=) c.14244G= (p.Gln4748=) | |
19 | g.38578171G>T | CA405685194 | RYR1 | c.1267G>T c.2664G>T c.2636G>T c.14331G>T (p.Gln4777His) c.14316G>T (p.Gln4772His) c.14313G>T (p.Gln4771His) c.14298G>T (p.Gln4766His) c.14328G>T (p.Gln4776His) c.14244G>T (p.Gln4748His) | |
19 | g.38578172A= | CA2335091406 | RYR1 | c.1268A= c.2665A= c.2637A= c.14332A= (p.Ile4778=) c.14317A= (p.Ile4773=) c.14314A= (p.Ile4772=) c.14299A= (p.Ile4767=) c.14329A= (p.Ile4777=) c.14245A= (p.Ile4749=) | |
19 | g.38578172A>C | CA405685196 | RYR1 | c.1268A>C c.2665A>C c.2637A>C c.14332A>C (p.Ile4778Leu) c.14317A>C (p.Ile4773Leu) c.14314A>C (p.Ile4772Leu) c.14299A>C (p.Ile4767Leu) c.14329A>C (p.Ile4777Leu) c.14245A>C (p.Ile4749Leu) | dbSNP |
19 | g.38578172A>G | CA405685198 | RYR1 | c.1268A>G c.2665A>G c.2637A>G c.14332A>G (p.Ile4778Val) c.14317A>G (p.Ile4773Val) c.14314A>G (p.Ile4772Val) c.14299A>G (p.Ile4767Val) c.14329A>G (p.Ile4777Val) c.14245A>G (p.Ile4749Val) | |
19 | g.38578172A>T | CA405685200 | RYR1 | c.1268A>T c.2665A>T c.2637A>T c.14332A>T (p.Ile4778Phe) c.14317A>T (p.Ile4773Phe) c.14314A>T (p.Ile4772Phe) c.14299A>T (p.Ile4767Phe) c.14329A>T (p.Ile4777Phe) c.14245A>T (p.Ile4749Phe) | |
19 | g.38578173T>A | CA405685205 | RYR1 | c.1269T>A c.2666T>A c.2638T>A c.14333T>A (p.Ile4778Asn) c.14318T>A (p.Ile4773Asn) c.14315T>A (p.Ile4772Asn) c.14300T>A (p.Ile4767Asn) c.14330T>A (p.Ile4777Asn) c.14246T>A (p.Ile4749Asn) | |
19 | g.38578173T>C | CA405685203 | RYR1 | c.1269T>C c.2666T>C c.2638T>C c.14333T>C (p.Ile4778Thr) c.14318T>C (p.Ile4773Thr) c.14315T>C (p.Ile4772Thr) c.14300T>C (p.Ile4767Thr) c.14330T>C (p.Ile4777Thr) c.14246T>C (p.Ile4749Thr) | |
19 | g.38578173T>G | CA405685202 | RYR1 | c.1269T>G c.2666T>G c.2638T>G c.14333T>G (p.Ile4778Ser) c.14318T>G (p.Ile4773Ser) c.14315T>G (p.Ile4772Ser) c.14300T>G (p.Ile4767Ser) c.14330T>G (p.Ile4777Ser) c.14246T>G (p.Ile4749Ser) | |
19 | g.38578174C>A | CA507245931 | RYR1 | c.1270C>A c.2667C>A c.2639C>A c.14334C>A (p.Ile4778=) c.14319C>A (p.Ile4773=) c.14316C>A (p.Ile4772=) c.14301C>A (p.Ile4767=) c.14331C>A (p.Ile4777=) c.14247C>A (p.Ile4749=) | gnomAD v4 |
19 | g.38578174C>G | CA405685208 | RYR1 | c.1270C>G c.2667C>G c.2639C>G c.14334C>G (p.Ile4778Met) c.14319C>G (p.Ile4773Met) c.14316C>G (p.Ile4772Met) c.14301C>G (p.Ile4767Met) c.14331C>G (p.Ile4777Met) c.14247C>G (p.Ile4749Met) | |
19 | g.38578174C>T | CA507245930 | RYR1 | c.1270C>T c.2667C>T c.2639C>T c.14334C>T (p.Ile4778=) c.14319C>T (p.Ile4773=) c.14316C>T (p.Ile4772=) c.14301C>T (p.Ile4767=) c.14331C>T (p.Ile4777=) c.14247C>T (p.Ile4749=) | |
19 | g.38578175T>A | CA405685218 | RYR1 | c.1271T>A c.2668T>A c.2640T>A c.14335T>A (p.Trp4779Arg) c.14320T>A (p.Trp4774Arg) c.14317T>A (p.Trp4773Arg) c.14302T>A (p.Trp4768Arg) c.14332T>A (p.Trp4778Arg) c.14248T>A (p.Trp4750Arg) | |
19 | g.38578175T>C | CA405685221 | RYR1 | c.1271T>C c.2668T>C c.2640T>C c.14335T>C (p.Trp4779Arg) c.14320T>C (p.Trp4774Arg) c.14317T>C (p.Trp4773Arg) c.14302T>C (p.Trp4768Arg) c.14332T>C (p.Trp4778Arg) c.14248T>C (p.Trp4750Arg) | ClinVar dbSNP |
19 | g.38578175T>G | CA405685227 | RYR1 | c.1271T>G c.2668T>G c.2640T>G c.14335T>G (p.Trp4779Gly) c.14320T>G (p.Trp4774Gly) c.14317T>G (p.Trp4773Gly) c.14302T>G (p.Trp4768Gly) c.14332T>G (p.Trp4778Gly) c.14248T>G (p.Trp4750Gly) | |
19 | g.38578175T= | CA2335091407 | RYR1 | c.1271T= c.2668T= c.2640T= c.14335T= (p.Trp4779=) c.14320T= (p.Trp4774=) c.14317T= (p.Trp4773=) c.14302T= (p.Trp4768=) c.14332T= (p.Trp4778=) c.14248T= (p.Trp4750=) | |
19 | g.38578176G>A | CA405685228 | RYR1 | c.1272G>A c.2669G>A c.2641G>A c.14336G>A (p.Trp4779Ter) c.14321G>A (p.Trp4774Ter) c.14318G>A (p.Trp4773Ter) c.14303G>A (p.Trp4768Ter) c.14333G>A (p.Trp4778Ter) c.14249G>A (p.Trp4750Ter) | |
19 | g.38578176G>C | CA081163 | RYR1 | c.1272G>C c.2669G>C c.2641G>C c.14336G>C (p.Trp4779Ser) c.14321G>C (p.Trp4774Ser) c.14318G>C (p.Trp4773Ser) c.14303G>C (p.Trp4768Ser) c.14333G>C (p.Trp4778Ser) c.14249G>C (p.Trp4750Ser) | |
19 | g.38578176G>T | CA405685229 | RYR1 | c.1272G>T c.2669G>T c.2641G>T c.14336G>T (p.Trp4779Leu) c.14321G>T (p.Trp4774Leu) c.14318G>T (p.Trp4773Leu) c.14303G>T (p.Trp4768Leu) c.14333G>T (p.Trp4778Leu) c.14249G>T (p.Trp4750Leu) | |
19 | g.38578177G>A | CA081164 | RYR1 | c.1273G>A c.2670G>A c.2642G>A c.14337G>A (p.Trp4779Ter) c.14322G>A (p.Trp4774Ter) c.14319G>A (p.Trp4773Ter) c.14304G>A (p.Trp4768Ter) c.14334G>A (p.Trp4778Ter) c.14250G>A (p.Trp4750Ter) | |
19 | g.38578177G>C | CA405685241 | RYR1 | c.1273G>C c.2670G>C c.2642G>C c.14337G>C (p.Trp4779Cys) c.14322G>C (p.Trp4774Cys) c.14319G>C (p.Trp4773Cys) c.14304G>C (p.Trp4768Cys) c.14334G>C (p.Trp4778Cys) c.14250G>C (p.Trp4750Cys) | |
19 | g.38578177G>T | CA405685245 | RYR1 | c.1273G>T c.2670G>T c.2642G>T c.14337G>T (p.Trp4779Cys) c.14322G>T (p.Trp4774Cys) c.14319G>T (p.Trp4773Cys) c.14304G>T (p.Trp4768Cys) c.14334G>T (p.Trp4778Cys) c.14250G>T (p.Trp4750Cys) | gnomAD v4 |
19 | g.38578178A>C | CA405685248 | RYR1 | c.1274A>C c.2671A>C c.2643A>C c.14338A>C (p.Lys4780Gln) c.14323A>C (p.Lys4775Gln) c.14320A>C (p.Lys4774Gln) c.14305A>C (p.Lys4769Gln) c.14335A>C (p.Lys4779Gln) c.14251A>C (p.Lys4751Gln) | gnomAD v4 |
19 | g.38578178A>G | CA405685251 | RYR1 | c.1274A>G c.2671A>G c.2643A>G c.14338A>G (p.Lys4780Glu) c.14323A>G (p.Lys4775Glu) c.14320A>G (p.Lys4774Glu) c.14305A>G (p.Lys4769Glu) c.14335A>G (p.Lys4779Glu) c.14251A>G (p.Lys4751Glu) | |
19 | g.38578178A>T | CA405685257 | RYR1 | c.1274A>T c.2671A>T c.2643A>T c.14338A>T (p.Lys4780Ter) c.14323A>T (p.Lys4775Ter) c.14320A>T (p.Lys4774Ter) c.14305A>T (p.Lys4769Ter) c.14335A>T (p.Lys4779Ter) c.14251A>T (p.Lys4751Ter) | |
19 | g.38578179A>C | CA405685262 | RYR1 | c.1275A>C c.2672A>C c.2644A>C c.14339A>C (p.Lys4780Thr) c.14324A>C (p.Lys4775Thr) c.14321A>C (p.Lys4774Thr) c.14306A>C (p.Lys4769Thr) c.14336A>C (p.Lys4779Thr) c.14252A>C (p.Lys4751Thr) | |
19 | g.38578179A>G | CA405685268 | RYR1 | c.1275A>G c.2672A>G c.2644A>G c.14339A>G (p.Lys4780Arg) c.14324A>G (p.Lys4775Arg) c.14321A>G (p.Lys4774Arg) c.14306A>G (p.Lys4769Arg) c.14336A>G (p.Lys4779Arg) c.14252A>G (p.Lys4751Arg) | |
19 | g.38578179A>T | CA405685265 | RYR1 | c.1275A>T c.2672A>T c.2644A>T c.14339A>T (p.Lys4780Met) c.14324A>T (p.Lys4775Met) c.14321A>T (p.Lys4774Met) c.14306A>T (p.Lys4769Met) c.14336A>T (p.Lys4779Met) c.14252A>T (p.Lys4751Met) | |
19 | g.38578179_38578180del | CA2580097246 | RYR1 | c.1275_1276del c.2672_2673del c.2644_2645del c.14339_14340del (p.Lys4780IlefsTer?) c.14324_14325del (p.Lys4775IlefsTer?) c.14321_14322del (p.Lys4774IlefsTer?) c.14306_14307del (p.Lys4769IlefsTer?) c.14336_14337del (p.Lys4779IlefsTer?) c.14252_14253del (p.Lys4751IlefsTer?) | ClinVar |
19 | g.38578180G>A | CA507245932 | RYR1 | c.1276G>A c.2673G>A c.2645G>A c.14340G>A (p.Lys4780=) c.14325G>A (p.Lys4775=) c.14322G>A (p.Lys4774=) c.14307G>A (p.Lys4769=) c.14337G>A (p.Lys4779=) c.14253G>A (p.Lys4751=) | |
19 | g.38578180G>C | CA405685273 | RYR1 | c.1276G>C c.2673G>C c.2645G>C c.14340G>C (p.Lys4780Asn) c.14325G>C (p.Lys4775Asn) c.14322G>C (p.Lys4774Asn) c.14307G>C (p.Lys4769Asn) c.14337G>C (p.Lys4779Asn) c.14253G>C (p.Lys4751Asn) | COSMIC |
19 | g.38578180G>T | CA405685276 | RYR1 | c.1276G>T c.2673G>T c.2645G>T c.14340G>T (p.Lys4780Asn) c.14325G>T (p.Lys4775Asn) c.14322G>T (p.Lys4774Asn) c.14307G>T (p.Lys4769Asn) c.14337G>T (p.Lys4779Asn) c.14253G>T (p.Lys4751Asn) | gnomAD v4 |
19 | g.38578181T>A | CA405685280 | RYR1 | c.1277T>A c.2674T>A c.2646T>A c.14341T>A (p.Phe4781Ile) c.14326T>A (p.Phe4776Ile) c.14323T>A (p.Phe4775Ile) c.14308T>A (p.Phe4770Ile) c.14338T>A (p.Phe4780Ile) c.14254T>A (p.Phe4752Ile) | |
19 | g.38578181T>C | CA405685282 | RYR1 | c.1277T>C c.2674T>C c.2646T>C c.14341T>C (p.Phe4781Leu) c.14326T>C (p.Phe4776Leu) c.14323T>C (p.Phe4775Leu) c.14308T>C (p.Phe4770Leu) c.14338T>C (p.Phe4780Leu) c.14254T>C (p.Phe4752Leu) | |
19 | g.38578181T>G | CA405685285 | RYR1 | c.1277T>G c.2674T>G c.2646T>G c.14341T>G (p.Phe4781Val) c.14326T>G (p.Phe4776Val) c.14323T>G (p.Phe4775Val) c.14308T>G (p.Phe4770Val) c.14338T>G (p.Phe4780Val) c.14254T>G (p.Phe4752Val) | |
19 | g.38578182T>A | CA405685289 | RYR1 | c.1278T>A c.2675T>A c.2647T>A c.14342T>A (p.Phe4781Tyr) c.14327T>A (p.Phe4776Tyr) c.14324T>A (p.Phe4775Tyr) c.14309T>A (p.Phe4770Tyr) c.14339T>A (p.Phe4780Tyr) c.14255T>A (p.Phe4752Tyr) | |
19 | g.38578182T>C | CA405685294 | RYR1 | c.1278T>C c.2675T>C c.2647T>C c.14342T>C (p.Phe4781Ser) c.14327T>C (p.Phe4776Ser) c.14324T>C (p.Phe4775Ser) c.14309T>C (p.Phe4770Ser) c.14339T>C (p.Phe4780Ser) c.14255T>C (p.Phe4752Ser) | ClinVar |
19 | g.38578182T>G | CA405685296 | RYR1 | c.1278T>G c.2675T>G c.2647T>G c.14342T>G (p.Phe4781Cys) c.14327T>G (p.Phe4776Cys) c.14324T>G (p.Phe4775Cys) c.14309T>G (p.Phe4770Cys) c.14339T>G (p.Phe4780Cys) c.14255T>G (p.Phe4752Cys) | |
19 | g.38578183C>A | CA405685301 | RYR1 | c.1279C>A c.2676C>A c.2648C>A c.14343C>A (p.Phe4781Leu) c.14328C>A (p.Phe4776Leu) c.14325C>A (p.Phe4775Leu) c.14310C>A (p.Phe4770Leu) c.14340C>A (p.Phe4780Leu) c.14256C>A (p.Phe4752Leu) | |
19 | g.38578183C= | CA2335091408 | RYR1 | c.1279C= c.2676C= c.2648C= c.14343C= (p.Phe4781=) c.14328C= (p.Phe4776=) c.14325C= (p.Phe4775=) c.14310C= (p.Phe4770=) c.14340C= (p.Phe4780=) c.14256C= (p.Phe4752=) | |
19 | g.38578183C>G | CA405685304 | RYR1 | c.1279C>G c.2676C>G c.2648C>G c.14343C>G (p.Phe4781Leu) c.14328C>G (p.Phe4776Leu) c.14325C>G (p.Phe4775Leu) c.14310C>G (p.Phe4770Leu) c.14340C>G (p.Phe4780Leu) c.14256C>G (p.Phe4752Leu) | |
19 | g.38578183C>T | CA061121 | RYR1 | c.1279C>T c.2676C>T c.2648C>T c.14343C>T (p.Phe4781=) c.14328C>T (p.Phe4776=) c.14325C>T (p.Phe4775=) c.14310C>T (p.Phe4770=) c.14340C>T (p.Phe4780=) c.14256C>T (p.Phe4752=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38578184G>A | CA061124 | RYR1 | c.1280G>A c.2677G>A c.2649G>A c.14344G>A (p.Gly4782Arg) c.14329G>A (p.Gly4777Arg) c.14326G>A (p.Gly4776Arg) c.14311G>A (p.Gly4771Arg) c.14341G>A (p.Gly4781Arg) c.14257G>A (p.Gly4753Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.[38578184G>A;38586150C>G] | CA2499306184 | RYR1 | c.[1280G>A;1864C>G] c.[2677G>A;3261C>G] c.[2649G>A;3233C>G] c.[14344G>A;14928C>G] (p.[Gly4782Arg;Phe4976Leu]) c.[14329G>A;14913C>G] (p.[Gly4777Arg;Phe4971Leu]) c.[14326G>A;14910C>G] (p.[Gly4776Arg;Phe4970Leu]) c.[14311G>A;14895C>G] (p.[Gly4771Arg;Phe4965Leu]) c.[14341G>A;14925C>G] (p.[Gly4781Arg;Phe4975Leu]) c.[14257G>A;14841C>G] (p.[Gly4753Arg;Phe4947Leu]) | |
19 | g.38578184G>C | CA405685311 | RYR1 | c.1280G>C c.2677G>C c.2649G>C c.14344G>C (p.Gly4782Arg) c.14329G>C (p.Gly4777Arg) c.14326G>C (p.Gly4776Arg) c.14311G>C (p.Gly4771Arg) c.14341G>C (p.Gly4781Arg) c.14257G>C (p.Gly4753Arg) | |
19 | g.38578184G= | CA2335091409 | RYR1 | c.1280G= c.2677G= c.2649G= c.14344G= (p.Gly4782=) c.14329G= (p.Gly4777=) c.14326G= (p.Gly4776=) c.14311G= (p.Gly4771=) c.14341G= (p.Gly4781=) c.14257G= (p.Gly4753=) | |
19 | g.38578184G>T | CA405685306 | RYR1 | c.1280G>T c.2677G>T c.2649G>T c.14344G>T (p.Gly4782Trp) c.14329G>T (p.Gly4777Trp) c.14326G>T (p.Gly4776Trp) c.14311G>T (p.Gly4771Trp) c.14341G>T (p.Gly4781Trp) c.14257G>T (p.Gly4753Trp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578185G>A | CA405685316 | RYR1 | c.1281G>A c.2678G>A c.2650G>A c.14345G>A (p.Gly4782Glu) c.14330G>A (p.Gly4777Glu) c.14327G>A (p.Gly4776Glu) c.14312G>A (p.Gly4771Glu) c.14342G>A (p.Gly4781Glu) c.14258G>A (p.Gly4753Glu) | ClinVar |
19 | g.38578185G>C | CA405685313 | RYR1 | c.1281G>C c.2678G>C c.2650G>C c.14345G>C (p.Gly4782Ala) c.14330G>C (p.Gly4777Ala) c.14327G>C (p.Gly4776Ala) c.14312G>C (p.Gly4771Ala) c.14342G>C (p.Gly4781Ala) c.14258G>C (p.Gly4753Ala) | |
19 | g.38578185G= | CA2335091410 | RYR1 | c.1281G= c.2678G= c.2650G= c.14345G= (p.Gly4782=) c.14330G= (p.Gly4777=) c.14327G= (p.Gly4776=) c.14312G= (p.Gly4771=) c.14342G= (p.Gly4781=) c.14258G= (p.Gly4753=) | |
19 | g.38578185G>T | CA061127 | RYR1 | c.1281G>T c.2678G>T c.2650G>T c.14345G>T (p.Gly4782Val) c.14330G>T (p.Gly4777Val) c.14327G>T (p.Gly4776Val) c.14312G>T (p.Gly4771Val) c.14342G>T (p.Gly4781Val) c.14258G>T (p.Gly4753Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578186G>A | CA507245934 | RYR1 | c.1282G>A c.2679G>A c.2651G>A c.14346G>A (p.Gly4782=) c.14331G>A (p.Gly4777=) c.14328G>A (p.Gly4776=) c.14313G>A (p.Gly4771=) c.14343G>A (p.Gly4781=) c.14259G>A (p.Gly4753=) | ClinVar dbSNP gnomAD v4 |
19 | g.38578186G>C | CA507245935 | RYR1 | c.1282G>C c.2679G>C c.2651G>C c.14346G>C (p.Gly4782=) c.14331G>C (p.Gly4777=) c.14328G>C (p.Gly4776=) c.14313G>C (p.Gly4771=) c.14343G>C (p.Gly4781=) c.14259G>C (p.Gly4753=) | |
19 | g.38578186G= | CA2335091411 | RYR1 | c.1282G= c.2679G= c.2651G= c.14346G= (p.Gly4782=) c.14331G= (p.Gly4777=) c.14328G= (p.Gly4776=) c.14313G= (p.Gly4771=) c.14343G= (p.Gly4781=) c.14259G= (p.Gly4753=) | |
19 | g.38578186G>T | CA081188 | RYR1 | c.1282G>T c.2679G>T c.2651G>T c.14346G>T (p.Gly4782=) c.14331G>T (p.Gly4777=) c.14328G>T (p.Gly4776=) c.14313G>T (p.Gly4771=) c.14343G>T (p.Gly4781=) c.14259G>T (p.Gly4753=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578187G>A | CA081189 | RYR1 | c.1283G>A c.2680G>A c.2652G>A c.14347G>A (p.Val4783Ile) c.14332G>A (p.Val4778Ile) c.14329G>A (p.Val4777Ile) c.14314G>A (p.Val4772Ile) c.14344G>A (p.Val4782Ile) c.14260G>A (p.Val4754Ile) | |
19 | g.38578187G>C | CA405685337 | RYR1 | c.1283G>C c.2680G>C c.2652G>C c.14347G>C (p.Val4783Leu) c.14332G>C (p.Val4778Leu) c.14329G>C (p.Val4777Leu) c.14314G>C (p.Val4772Leu) c.14344G>C (p.Val4782Leu) c.14260G>C (p.Val4754Leu) | |
19 | g.38578187G>T | CA405685339 | RYR1 | c.1283G>T c.2680G>T c.2652G>T c.14347G>T (p.Val4783Phe) c.14332G>T (p.Val4778Phe) c.14329G>T (p.Val4777Phe) c.14314G>T (p.Val4772Phe) c.14344G>T (p.Val4782Phe) c.14260G>T (p.Val4754Phe) | |
19 | g.38578188T>A | CA405685342 | RYR1 | c.1284T>A c.2681T>A c.2653T>A c.14348T>A (p.Val4783Asp) c.14333T>A (p.Val4778Asp) c.14330T>A (p.Val4777Asp) c.14315T>A (p.Val4772Asp) c.14345T>A (p.Val4782Asp) c.14261T>A (p.Val4754Asp) | |
19 | g.38578188T>C | CA405685345 | RYR1 | c.1284T>C c.2681T>C c.2653T>C c.14348T>C (p.Val4783Ala) c.14333T>C (p.Val4778Ala) c.14330T>C (p.Val4777Ala) c.14315T>C (p.Val4772Ala) c.14345T>C (p.Val4782Ala) c.14261T>C (p.Val4754Ala) | |
19 | g.38578188T>G | CA405685351 | RYR1 | c.1284T>G c.2681T>G c.2653T>G c.14348T>G (p.Val4783Gly) c.14333T>G (p.Val4778Gly) c.14330T>G (p.Val4777Gly) c.14315T>G (p.Val4772Gly) c.14345T>G (p.Val4782Gly) c.14261T>G (p.Val4754Gly) | |
19 | g.38578189C>A | CA507245938 | RYR1 | c.1285C>A c.2682C>A c.2654C>A c.14349C>A (p.Val4783=) c.14334C>A (p.Val4778=) c.14331C>A (p.Val4777=) c.14316C>A (p.Val4772=) c.14346C>A (p.Val4782=) c.14262C>A (p.Val4754=) | |
19 | g.38578189C>G | CA507245939 | RYR1 | c.1285C>G c.2682C>G c.2654C>G c.14349C>G (p.Val4783=) c.14334C>G (p.Val4778=) c.14331C>G (p.Val4777=) c.14316C>G (p.Val4772=) c.14346C>G (p.Val4782=) c.14262C>G (p.Val4754=) | |
19 | g.38578189C>T | CA507245940 | RYR1 | c.1285C>T c.2682C>T c.2654C>T c.14349C>T (p.Val4783=) c.14334C>T (p.Val4778=) c.14331C>T (p.Val4777=) c.14316C>T (p.Val4772=) c.14346C>T (p.Val4782=) c.14262C>T (p.Val4754=) | |
19 | g.38578190A= | CA2335091412 | RYR1 | c.1286A= c.2683A= c.2655A= c.14350A= (p.Ile4784=) c.14335A= (p.Ile4779=) c.14332A= (p.Ile4778=) c.14317A= (p.Ile4773=) c.14347A= (p.Ile4783=) c.14263A= (p.Ile4755=) | |
19 | g.38578190A>C | CA405685354 | RYR1 | c.1286A>C c.2683A>C c.2655A>C c.14350A>C (p.Ile4784Leu) c.14335A>C (p.Ile4779Leu) c.14332A>C (p.Ile4778Leu) c.14317A>C (p.Ile4773Leu) c.14347A>C (p.Ile4783Leu) c.14263A>C (p.Ile4755Leu) | ClinVar dbSNP |
19 | g.38578190A>G | CA405685358 | RYR1 | c.1286A>G c.2683A>G c.2655A>G c.14350A>G (p.Ile4784Val) c.14335A>G (p.Ile4779Val) c.14332A>G (p.Ile4778Val) c.14317A>G (p.Ile4773Val) c.14347A>G (p.Ile4783Val) c.14263A>G (p.Ile4755Val) | |
19 | g.38578190A>T | CA081170 | RYR1 | c.1286A>T c.2683A>T c.2655A>T c.14350A>T (p.Ile4784Phe) c.14335A>T (p.Ile4779Phe) c.14332A>T (p.Ile4778Phe) c.14317A>T (p.Ile4773Phe) c.14347A>T (p.Ile4783Phe) c.14263A>T (p.Ile4755Phe) | |
19 | g.38578191T>A | CA405685365 | RYR1 | c.1287T>A c.2684T>A c.2656T>A c.14351T>A (p.Ile4784Asn) c.14336T>A (p.Ile4779Asn) c.14333T>A (p.Ile4778Asn) c.14318T>A (p.Ile4773Asn) c.14348T>A (p.Ile4783Asn) c.14264T>A (p.Ile4755Asn) | |
19 | g.38578191T>C | CA405685368 | RYR1 | c.1287T>C c.2684T>C c.2656T>C c.14351T>C (p.Ile4784Thr) c.14336T>C (p.Ile4779Thr) c.14333T>C (p.Ile4778Thr) c.14318T>C (p.Ile4773Thr) c.14348T>C (p.Ile4783Thr) c.14264T>C (p.Ile4755Thr) | |
19 | g.38578191T>G | CA405685370 | RYR1 | c.1287T>G c.2684T>G c.2656T>G c.14351T>G (p.Ile4784Ser) c.14336T>G (p.Ile4779Ser) c.14333T>G (p.Ile4778Ser) c.14318T>G (p.Ile4773Ser) c.14348T>G (p.Ile4783Ser) c.14264T>G (p.Ile4755Ser) | |
19 | g.38578192C>A | CA507245942 | RYR1 | c.1288C>A c.2685C>A c.2657C>A c.14352C>A (p.Ile4784=) c.14337C>A (p.Ile4779=) c.14334C>A (p.Ile4778=) c.14319C>A (p.Ile4773=) c.14349C>A (p.Ile4783=) c.14265C>A (p.Ile4755=) | |
19 | g.38578192C>G | CA405685372 | RYR1 | c.1288C>G c.2685C>G c.2657C>G c.14352C>G (p.Ile4784Met) c.14337C>G (p.Ile4779Met) c.14334C>G (p.Ile4778Met) c.14319C>G (p.Ile4773Met) c.14349C>G (p.Ile4783Met) c.14265C>G (p.Ile4755Met) | |
19 | g.38578192C>T | CA507245945 | RYR1 | c.1288C>T c.2685C>T c.2657C>T c.14352C>T (p.Ile4784=) c.14337C>T (p.Ile4779=) c.14334C>T (p.Ile4778=) c.14319C>T (p.Ile4773=) c.14349C>T (p.Ile4783=) c.14265C>T (p.Ile4755=) | |
19 | g.38578193T>A | CA405685373 | RYR1 | c.1289T>A c.2686T>A c.2658T>A c.14353T>A (p.Phe4785Ile) c.14338T>A (p.Phe4780Ile) c.14335T>A (p.Phe4779Ile) c.14320T>A (p.Phe4774Ile) c.14350T>A (p.Phe4784Ile) c.14266T>A (p.Phe4756Ile) | |
19 | g.38578193T>C | CA405685374 | RYR1 | c.1289T>C c.2686T>C c.2658T>C c.14353T>C (p.Phe4785Leu) c.14338T>C (p.Phe4780Leu) c.14335T>C (p.Phe4779Leu) c.14320T>C (p.Phe4774Leu) c.14350T>C (p.Phe4784Leu) c.14266T>C (p.Phe4756Leu) | ClinVar gnomAD v4 |
19 | g.38578193T>G | CA405685376 | RYR1 | c.1289T>G c.2686T>G c.2658T>G c.14353T>G (p.Phe4785Val) c.14338T>G (p.Phe4780Val) c.14335T>G (p.Phe4779Val) c.14320T>G (p.Phe4774Val) c.14350T>G (p.Phe4784Val) c.14266T>G (p.Phe4756Val) | dbSNP |
19 | g.38578193T= | CA2335091413 | RYR1 | c.1289T= c.2686T= c.2658T= c.14353T= (p.Phe4785=) c.14338T= (p.Phe4780=) c.14335T= (p.Phe4779=) c.14320T= (p.Phe4774=) c.14350T= (p.Phe4784=) c.14266T= (p.Phe4756=) | |
19 | g.38578194T>A | CA405685380 | RYR1 | c.1290T>A c.2687T>A c.2659T>A c.14354T>A (p.Phe4785Tyr) c.14339T>A (p.Phe4780Tyr) c.14336T>A (p.Phe4779Tyr) c.14321T>A (p.Phe4774Tyr) c.14351T>A (p.Phe4784Tyr) c.14267T>A (p.Phe4756Tyr) | |
19 | g.38578194T>C | CA405685385 | RYR1 | c.1290T>C c.2687T>C c.2659T>C c.14354T>C (p.Phe4785Ser) c.14339T>C (p.Phe4780Ser) c.14336T>C (p.Phe4779Ser) c.14321T>C (p.Phe4774Ser) c.14351T>C (p.Phe4784Ser) c.14267T>C (p.Phe4756Ser) | |
19 | g.38578194T>G | CA405685388 | RYR1 | c.1290T>G c.2687T>G c.2659T>G c.14354T>G (p.Phe4785Cys) c.14339T>G (p.Phe4780Cys) c.14336T>G (p.Phe4779Cys) c.14321T>G (p.Phe4774Cys) c.14351T>G (p.Phe4784Cys) c.14267T>G (p.Phe4756Cys) | |
19 | g.38578195C>A | CA405685391 | RYR1 | c.1291C>A c.2688C>A c.2660C>A c.14355C>A (p.Phe4785Leu) c.14340C>A (p.Phe4780Leu) c.14337C>A (p.Phe4779Leu) c.14322C>A (p.Phe4774Leu) c.14352C>A (p.Phe4784Leu) c.14268C>A (p.Phe4756Leu) | |
19 | g.38578195C= | CA2335091414 | RYR1 | c.1291C= c.2688C= c.2660C= c.14355C= (p.Phe4785=) c.14340C= (p.Phe4780=) c.14337C= (p.Phe4779=) c.14322C= (p.Phe4774=) c.14352C= (p.Phe4784=) c.14268C= (p.Phe4756=) | |
19 | g.38578195C>G | CA405685401 | RYR1 | c.1291C>G c.2688C>G c.2660C>G c.14355C>G (p.Phe4785Leu) c.14340C>G (p.Phe4780Leu) c.14337C>G (p.Phe4779Leu) c.14322C>G (p.Phe4774Leu) c.14352C>G (p.Phe4784Leu) c.14268C>G (p.Phe4756Leu) | dbSNP |
19 | g.38578195C>T | CA507245946 | RYR1 | c.1291C>T c.2688C>T c.2660C>T c.14355C>T (p.Phe4785=) c.14340C>T (p.Phe4780=) c.14337C>T (p.Phe4779=) c.14322C>T (p.Phe4774=) c.14352C>T (p.Phe4784=) c.14268C>T (p.Phe4756=) | gnomAD v4 |
19 | g.38578196A>C | CA405685406 | RYR1 | c.1292A>C c.2689A>C c.2661A>C c.14356A>C (p.Thr4786Pro) c.14341A>C (p.Thr4781Pro) c.14338A>C (p.Thr4780Pro) c.14323A>C (p.Thr4775Pro) c.14353A>C (p.Thr4785Pro) c.14269A>C (p.Thr4757Pro) | |
19 | g.38578196A>G | CA405685409 | RYR1 | c.1292A>G c.2689A>G c.2661A>G c.14356A>G (p.Thr4786Ala) c.14341A>G (p.Thr4781Ala) c.14338A>G (p.Thr4780Ala) c.14323A>G (p.Thr4775Ala) c.14353A>G (p.Thr4785Ala) c.14269A>G (p.Thr4757Ala) | |
19 | g.38578196A>T | CA405685413 | RYR1 | c.1292A>T c.2689A>T c.2661A>T c.14356A>T (p.Thr4786Ser) c.14341A>T (p.Thr4781Ser) c.14338A>T (p.Thr4780Ser) c.14323A>T (p.Thr4775Ser) c.14353A>T (p.Thr4785Ser) c.14269A>T (p.Thr4757Ser) | |
19 | g.38578197del | CA2584910739 | RYR1 | c.1293del c.2690del c.2662del c.14357del (p.Thr4786LysfsTer13) c.14342del (p.Thr4781LysfsTer13) c.14339del (p.Thr4780LysfsTer13) c.14324del (p.Thr4775LysfsTer13) c.14354del (p.Thr4785LysfsTer13) c.14270del (p.Thr4757LysfsTer13) | gnomAD v4 |
19 | g.38578197C>A | CA405685415 | RYR1 | c.1293C>A c.2690C>A c.2662C>A c.14357C>A (p.Thr4786Lys) c.14342C>A (p.Thr4781Lys) c.14339C>A (p.Thr4780Lys) c.14324C>A (p.Thr4775Lys) c.14354C>A (p.Thr4785Lys) c.14270C>A (p.Thr4757Lys) | |
19 | g.38578197C>G | CA405685419 | RYR1 | c.1293C>G c.2690C>G c.2662C>G c.14357C>G (p.Thr4786Arg) c.14342C>G (p.Thr4781Arg) c.14339C>G (p.Thr4780Arg) c.14324C>G (p.Thr4775Arg) c.14354C>G (p.Thr4785Arg) c.14270C>G (p.Thr4757Arg) | |
19 | g.38578197C>T | CA405685435 | RYR1 | c.1293C>T c.2690C>T c.2662C>T c.14357C>T (p.Thr4786Ile) c.14342C>T (p.Thr4781Ile) c.14339C>T (p.Thr4780Ile) c.14324C>T (p.Thr4775Ile) c.14354C>T (p.Thr4785Ile) c.14270C>T (p.Thr4757Ile) | |
19 | g.38578198A>C | CA507245947 | RYR1 | c.1294A>C c.2691A>C c.2663A>C c.14358A>C (p.Thr4786=) c.14343A>C (p.Thr4781=) c.14340A>C (p.Thr4780=) c.14325A>C (p.Thr4775=) c.14355A>C (p.Thr4785=) c.14271A>C (p.Thr4757=) | |
19 | g.38578198A>G | CA507245948 | RYR1 | c.1294A>G c.2691A>G c.2663A>G c.14358A>G (p.Thr4786=) c.14343A>G (p.Thr4781=) c.14340A>G (p.Thr4780=) c.14325A>G (p.Thr4775=) c.14355A>G (p.Thr4785=) c.14271A>G (p.Thr4757=) | |
19 | g.38578198A>T | CA507245950 | RYR1 | c.1294A>T c.2691A>T c.2663A>T c.14358A>T (p.Thr4786=) c.14343A>T (p.Thr4781=) c.14340A>T (p.Thr4780=) c.14325A>T (p.Thr4775=) c.14355A>T (p.Thr4785=) c.14271A>T (p.Thr4757=) | |
19 | g.38578199G>A | CA405685437 | RYR1 | c.1295G>A c.2692G>A c.2664G>A c.14359G>A (p.Asp4787Asn) c.14344G>A (p.Asp4782Asn) c.14341G>A (p.Asp4781Asn) c.14326G>A (p.Asp4776Asn) c.14356G>A (p.Asp4786Asn) c.14272G>A (p.Asp4758Asn) | |
19 | g.38578199G>C | CA405685445 | RYR1 | c.1295G>C c.2692G>C c.2664G>C c.14359G>C (p.Asp4787His) c.14344G>C (p.Asp4782His) c.14341G>C (p.Asp4781His) c.14326G>C (p.Asp4776His) c.14356G>C (p.Asp4786His) c.14272G>C (p.Asp4758His) | |
19 | g.38578199G>T | CA405685443 | RYR1 | c.1295G>T c.2692G>T c.2664G>T c.14359G>T (p.Asp4787Tyr) c.14344G>T (p.Asp4782Tyr) c.14341G>T (p.Asp4781Tyr) c.14326G>T (p.Asp4776Tyr) c.14356G>T (p.Asp4786Tyr) c.14272G>T (p.Asp4758Tyr) | |
19 | g.38578200A>C | CA405685452 | RYR1 | c.1296A>C c.2693A>C c.2665A>C c.14360A>C (p.Asp4787Ala) c.14345A>C (p.Asp4782Ala) c.14342A>C (p.Asp4781Ala) c.14327A>C (p.Asp4776Ala) c.14357A>C (p.Asp4786Ala) c.14273A>C (p.Asp4758Ala) | |
19 | g.38578200A>G | CA405685453 | RYR1 | c.1296A>G c.2693A>G c.2665A>G c.14360A>G (p.Asp4787Gly) c.14345A>G (p.Asp4782Gly) c.14342A>G (p.Asp4781Gly) c.14327A>G (p.Asp4776Gly) c.14357A>G (p.Asp4786Gly) c.14273A>G (p.Asp4758Gly) | |
19 | g.38578200A>T | CA405685454 | RYR1 | c.1296A>T c.2693A>T c.2665A>T c.14360A>T (p.Asp4787Val) c.14345A>T (p.Asp4782Val) c.14342A>T (p.Asp4781Val) c.14327A>T (p.Asp4776Val) c.14357A>T (p.Asp4786Val) c.14273A>T (p.Asp4758Val) | |
19 | g.38578201C>A | CA405685455 | RYR1 | c.1297C>A c.2694C>A c.2666C>A c.14361C>A (p.Asp4787Glu) c.14346C>A (p.Asp4782Glu) c.14343C>A (p.Asp4781Glu) c.14328C>A (p.Asp4776Glu) c.14358C>A (p.Asp4786Glu) c.14274C>A (p.Asp4758Glu) | |
19 | g.38578201C>G | CA405685456 | RYR1 | c.1297C>G c.2694C>G c.2666C>G c.14361C>G (p.Asp4787Glu) c.14346C>G (p.Asp4782Glu) c.14343C>G (p.Asp4781Glu) c.14328C>G (p.Asp4776Glu) c.14358C>G (p.Asp4786Glu) c.14274C>G (p.Asp4758Glu) | |
19 | g.38578201C>T | CA507245951 | RYR1 | c.1297C>T c.2694C>T c.2666C>T c.14361C>T (p.Asp4787=) c.14346C>T (p.Asp4782=) c.14343C>T (p.Asp4781=) c.14328C>T (p.Asp4776=) c.14358C>T (p.Asp4786=) c.14274C>T (p.Asp4758=) | |
19 | g.38578202A>C | CA405685463 | RYR1 | c.1298A>C c.2695A>C c.2667A>C c.14362A>C (p.Asn4788His) c.14347A>C (p.Asn4783His) c.14344A>C (p.Asn4782His) c.14329A>C (p.Asn4777His) c.14359A>C (p.Asn4787His) c.14275A>C (p.Asn4759His) | |
19 | g.38578202A>G | CA405685462 | RYR1 | c.1298A>G c.2695A>G c.2667A>G c.14362A>G (p.Asn4788Asp) c.14347A>G (p.Asn4783Asp) c.14344A>G (p.Asn4782Asp) c.14329A>G (p.Asn4777Asp) c.14359A>G (p.Asn4787Asp) c.14275A>G (p.Asn4759Asp) | gnomAD v4 |
19 | g.38578202A>T | CA405685459 | RYR1 | c.1298A>T c.2695A>T c.2667A>T c.14362A>T (p.Asn4788Tyr) c.14347A>T (p.Asn4783Tyr) c.14344A>T (p.Asn4782Tyr) c.14329A>T (p.Asn4777Tyr) c.14359A>T (p.Asn4787Tyr) c.14275A>T (p.Asn4759Tyr) | |
19 | g.38578203A= | CA2335091415 | RYR1 | c.1299A= c.2696A= c.2668A= c.14363A= (p.Asn4788=) c.14348A= (p.Asn4783=) c.14345A= (p.Asn4782=) c.14330A= (p.Asn4777=) c.14360A= (p.Asn4787=) c.14276A= (p.Asn4759=) | |
19 | g.38578203A>C | CA405685466 | RYR1 | c.1299A>C c.2696A>C c.2668A>C c.14363A>C (p.Asn4788Thr) c.14348A>C (p.Asn4783Thr) c.14345A>C (p.Asn4782Thr) c.14330A>C (p.Asn4777Thr) c.14360A>C (p.Asn4787Thr) c.14276A>C (p.Asn4759Thr) | |
19 | g.38578203A>G | CA061135 | RYR1 | c.1299A>G c.2696A>G c.2668A>G c.14363A>G (p.Asn4788Ser) c.14348A>G (p.Asn4783Ser) c.14345A>G (p.Asn4782Ser) c.14330A>G (p.Asn4777Ser) c.14360A>G (p.Asn4787Ser) c.14276A>G (p.Asn4759Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578203A>T | CA405685468 | RYR1 | c.1299A>T c.2696A>T c.2668A>T c.14363A>T (p.Asn4788Ile) c.14348A>T (p.Asn4783Ile) c.14345A>T (p.Asn4782Ile) c.14330A>T (p.Asn4777Ile) c.14360A>T (p.Asn4787Ile) c.14276A>T (p.Asn4759Ile) | |
19 | g.38578204C>A | CA405685470 | RYR1 | c.1300C>A c.2697C>A c.2669C>A c.14364C>A (p.Asn4788Lys) c.14349C>A (p.Asn4783Lys) c.14346C>A (p.Asn4782Lys) c.14331C>A (p.Asn4777Lys) c.14361C>A (p.Asn4787Lys) c.14277C>A (p.Asn4759Lys) | |
19 | g.38578204C= | CA2335091416 | RYR1 | c.1300C= c.2697C= c.2669C= c.14364C= (p.Asn4788=) c.14349C= (p.Asn4783=) c.14346C= (p.Asn4782=) c.14331C= (p.Asn4777=) c.14361C= (p.Asn4787=) c.14277C= (p.Asn4759=) | |
19 | g.38578204C>G | CA405685473 | RYR1 | c.1300C>G c.2697C>G c.2669C>G c.14364C>G (p.Asn4788Lys) c.14349C>G (p.Asn4783Lys) c.14346C>G (p.Asn4782Lys) c.14331C>G (p.Asn4777Lys) c.14361C>G (p.Asn4787Lys) c.14277C>G (p.Asn4759Lys) | gnomAD v4 |
19 | g.38578204C>T | CA061164 | RYR1 | c.1300C>T c.2697C>T c.2669C>T c.14364C>T (p.Asn4788=) c.14349C>T (p.Asn4783=) c.14346C>T (p.Asn4782=) c.14331C>T (p.Asn4777=) c.14361C>T (p.Asn4787=) c.14277C>T (p.Asn4759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578205G>A | CA405685479 | RYR1 | c.1300+1G>A c.2697+1G>A c.2669+1G>A c.14364+1G>A (n.14364+1G>A) c.14349+1G>A (n.14349+1G>A) c.14346+1G>A (n.14346+1G>A) c.14331+1G>A (n.14331+1G>A) c.14361+1G>A (n.14361+1G>A) c.14277+1G>A (n.14277+1G>A) | ClinVar dbSNP gnomAD v4 |
19 | g.38578205G>C | CA405685494 | RYR1 | c.1300+1G>C c.2697+1G>C c.2669+1G>C c.14364+1G>C (n.14364+1G>C) c.14349+1G>C (n.14349+1G>C) c.14346+1G>C (n.14346+1G>C) c.14331+1G>C (n.14331+1G>C) c.14361+1G>C (n.14361+1G>C) c.14277+1G>C (n.14277+1G>C) | |
19 | g.38578205G= | CA2335091417 | RYR1 | c.1300+1G= c.2697+1G= c.2669+1G= c.14364+1G= (n.14364+1G=) c.14349+1G= (n.14349+1G=) c.14346+1G= (n.14346+1G=) c.14331+1G= (n.14331+1G=) c.14361+1G= (n.14361+1G=) c.14277+1G= (n.14277+1G=) | |
19 | g.38578205G>T | CA405685492 | RYR1 | c.1300+1G>T c.2697+1G>T c.2669+1G>T c.14364+1G>T (n.14364+1G>T) c.14349+1G>T (n.14349+1G>T) c.14346+1G>T (n.14346+1G>T) c.14331+1G>T (n.14331+1G>T) c.14361+1G>T (n.14361+1G>T) c.14277+1G>T (n.14277+1G>T) | ClinVar dbSNP gnomAD v4 |
19 | g.38578206T>A | CA405685496 | RYR1 | c.1300+2T>A c.2697+2T>A c.2669+2T>A c.14364+2T>A (n.14364+2T>A) c.14349+2T>A (n.14349+2T>A) c.14346+2T>A (n.14346+2T>A) c.14331+2T>A (n.14331+2T>A) c.14361+2T>A (n.14361+2T>A) c.14277+2T>A (n.14277+2T>A) | |
19 | g.38578206T>C | CA405685500 | RYR1 | c.1300+2T>C c.2697+2T>C c.2669+2T>C c.14364+2T>C (n.14364+2T>C) c.14349+2T>C (n.14349+2T>C) c.14346+2T>C (n.14346+2T>C) c.14331+2T>C (n.14331+2T>C) c.14361+2T>C (n.14361+2T>C) c.14277+2T>C (n.14277+2T>C) | |
19 | g.38578206T>G | CA405685503 | RYR1 | c.1300+2T>G c.2697+2T>G c.2669+2T>G c.14364+2T>G (n.14364+2T>G) c.14349+2T>G (n.14349+2T>G) c.14346+2T>G (n.14346+2T>G) c.14331+2T>G (n.14331+2T>G) c.14361+2T>G (n.14361+2T>G) c.14277+2T>G (n.14277+2T>G) | |
19 | g.38578207G>A | CA632876702 | RYR1 | c.1300+3G>A c.2697+3G>A c.2669+3G>A c.14364+3G>A (n.14364+3G>A) c.14349+3G>A (n.14349+3G>A) c.14346+3G>A (n.14346+3G>A) c.14331+3G>A (n.14331+3G>A) c.14361+3G>A (n.14361+3G>A) c.14277+3G>A (n.14277+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578207G= | CA2335091418 | RYR1 | c.1300+3G= c.2697+3G= c.2669+3G= c.14364+3G= (n.14364+3G=) c.14349+3G= (n.14349+3G=) c.14346+3G= (n.14346+3G=) c.14331+3G= (n.14331+3G=) c.14361+3G= (n.14361+3G=) c.14277+3G= (n.14277+3G=) | |
19 | g.38578207G>T | CA2505520814 | RYR1 | c.1300+3G>T c.2697+3G>T c.2669+3G>T c.14364+3G>T (n.14364+3G>T) c.14349+3G>T (n.14349+3G>T) c.14346+3G>T (n.14346+3G>T) c.14331+3G>T (n.14331+3G>T) c.14361+3G>T (n.14361+3G>T) c.14277+3G>T (n.14277+3G>T) | |
19 | g.38578209G>A | CA061160 | RYR1 | c.1300+5G>A c.2697+5G>A c.2669+5G>A c.14364+5G>A (n.14364+5G>A) c.14349+5G>A (n.14349+5G>A) c.14346+5G>A (n.14346+5G>A) c.14331+5G>A (n.14331+5G>A) c.14361+5G>A (n.14361+5G>A) c.14277+5G>A (n.14277+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578209G= | CA2335091419 | RYR1 | c.1300+5G= c.2697+5G= c.2669+5G= c.14364+5G= (n.14364+5G=) c.14349+5G= (n.14349+5G=) c.14346+5G= (n.14346+5G=) c.14331+5G= (n.14331+5G=) c.14361+5G= (n.14361+5G=) c.14277+5G= (n.14277+5G=) | |
19 | g.38578209G>T | CA2335091420 | RYR1 | c.1300+5G>T c.2697+5G>T c.2669+5G>T c.14364+5G>T (n.14364+5G>T) c.14349+5G>T (n.14349+5G>T) c.14346+5G>T (n.14346+5G>T) c.14331+5G>T (n.14331+5G>T) c.14361+5G>T (n.14361+5G>T) c.14277+5G>T (n.14277+5G>T) | dbSNP gnomAD v4 |
19 | g.38578209_38578235dup | CA2573156322 | RYR1 | c.1300+5_1300+31dup c.2697+5_2697+31dup c.2669+5_2669+31dup c.14364+5_14364+31dup (n.14364+5_14364+31dup) c.14349+5_14349+31dup (n.14349+5_14349+31dup) c.14346+5_14346+31dup (n.14346+5_14346+31dup) c.14331+5_14331+31dup (n.14331+5_14331+31dup) c.14361+5_14361+31dup (n.14361+5_14361+31dup) c.14277+5_14277+31dup (n.14277+5_14277+31dup) | ClinVar dbSNP gnomAD v4 |
19 | g.38578210C= | CA2335091421 | RYR1 | c.1300+6C= c.2697+6C= c.2669+6C= c.14364+6C= (n.14364+6C=) c.14349+6C= (n.14349+6C=) c.14346+6C= (n.14346+6C=) c.14331+6C= (n.14331+6C=) c.14361+6C= (n.14361+6C=) c.14277+6C= (n.14277+6C=) | |
19 | g.38578210C>T | CA882064296 | RYR1 | c.1300+6C>T c.2697+6C>T c.2669+6C>T c.14364+6C>T (n.14364+6C>T) c.14349+6C>T (n.14349+6C>T) c.14346+6C>T (n.14346+6C>T) c.14331+6C>T (n.14331+6C>T) c.14361+6C>T (n.14361+6C>T) c.14277+6C>T (n.14277+6C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578211A>G | CA2584910740 | RYR1 | c.1300+7A>G c.2697+7A>G c.2669+7A>G c.14364+7A>G (n.14364+7A>G) c.14349+7A>G (n.14349+7A>G) c.14346+7A>G (n.14346+7A>G) c.14331+7A>G (n.14331+7A>G) c.14361+7A>G (n.14361+7A>G) c.14277+7A>G (n.14277+7A>G) | gnomAD v4 |
19 | g.38578215del | CA2584910741 | RYR1 | c.1300+11del c.2697+11del c.2669+11del c.14364+11del (n.14364+11del) c.14349+11del (n.14349+11del) c.14346+11del (n.14346+11del) c.14331+11del (n.14331+11del) c.14361+11del (n.14361+11del) c.14277+11del (n.14277+11del) | gnomAD v4 |
19 | g.38578213G>A | CA2573156323 | RYR1 | c.1300+9G>A c.2697+9G>A c.2669+9G>A c.14364+9G>A (n.14364+9G>A) c.14349+9G>A (n.14349+9G>A) c.14346+9G>A (n.14346+9G>A) c.14331+9G>A (n.14331+9G>A) c.14361+9G>A (n.14361+9G>A) c.14277+9G>A (n.14277+9G>A) | ClinVar dbSNP |
19 | g.38578214G>A | CA632876705 | RYR1 | c.1300+10G>A c.2697+10G>A c.2669+10G>A c.14364+10G>A (n.14364+10G>A) c.14349+10G>A (n.14349+10G>A) c.14346+10G>A (n.14346+10G>A) c.14331+10G>A (n.14331+10G>A) c.14361+10G>A (n.14361+10G>A) c.14277+10G>A (n.14277+10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578214G= | CA2335091422 | RYR1 | c.1300+10G= c.2697+10G= c.2669+10G= c.14364+10G= (n.14364+10G=) c.14349+10G= (n.14349+10G=) c.14346+10G= (n.14346+10G=) c.14331+10G= (n.14331+10G=) c.14361+10G= (n.14361+10G=) c.14277+10G= (n.14277+10G=) | |
19 | g.38578215G>A | CA2739276760 | RYR1 | c.1300+11G>A c.2697+11G>A c.2669+11G>A c.14364+11G>A (n.14364+11G>A) c.14349+11G>A (n.14349+11G>A) c.14346+11G>A (n.14346+11G>A) c.14331+11G>A (n.14331+11G>A) c.14361+11G>A (n.14361+11G>A) c.14277+11G>A (n.14277+11G>A) | ClinVar |
19 | g.38578215G>T | CA2584910742 | RYR1 | c.1300+11G>T c.2697+11G>T c.2669+11G>T c.14364+11G>T (n.14364+11G>T) c.14349+11G>T (n.14349+11G>T) c.14346+11G>T (n.14346+11G>T) c.14331+11G>T (n.14331+11G>T) c.14361+11G>T (n.14361+11G>T) c.14277+11G>T (n.14277+11G>T) | gnomAD v4 |
19 | g.38578218del | CA2584910743 | RYR1 | c.1300+14del c.2697+14del c.2669+14del c.14364+14del (n.14364+14del) c.14349+14del (n.14349+14del) c.14346+14del (n.14346+14del) c.14331+14del (n.14331+14del) c.14361+14del (n.14361+14del) c.14277+14del (n.14277+14del) | ClinVar gnomAD v4 |
19 | g.38578218C>A | CA2576827482 | RYR1 | c.1300+14C>A c.2697+14C>A c.2669+14C>A c.14364+14C>A (n.14364+14C>A) c.14349+14C>A (n.14349+14C>A) c.14346+14C>A (n.14346+14C>A) c.14331+14C>A (n.14331+14C>A) c.14361+14C>A (n.14361+14C>A) c.14277+14C>A (n.14277+14C>A) | |
19 | g.38578219A= | CA2335091423 | RYR1 | c.1300+15A= c.2697+15A= c.2669+15A= c.14364+15A= (n.14364+15A=) c.14349+15A= (n.14349+15A=) c.14346+15A= (n.14346+15A=) c.14331+15A= (n.14331+15A=) c.14361+15A= (n.14361+15A=) c.14277+15A= (n.14277+15A=) | |
19 | g.38578219A>C | CA2584910744 | RYR1 | c.1300+15A>C c.2697+15A>C c.2669+15A>C c.14364+15A>C (n.14364+15A>C) c.14349+15A>C (n.14349+15A>C) c.14346+15A>C (n.14346+15A>C) c.14331+15A>C (n.14331+15A>C) c.14361+15A>C (n.14361+15A>C) c.14277+15A>C (n.14277+15A>C) | gnomAD v4 |
19 | g.38578219A>G | CA061138 | RYR1 | c.1300+15A>G c.2697+15A>G c.2669+15A>G c.14364+15A>G (n.14364+15A>G) c.14349+15A>G (n.14349+15A>G) c.14346+15A>G (n.14346+15A>G) c.14331+15A>G (n.14331+15A>G) c.14361+15A>G (n.14361+15A>G) c.14277+15A>G (n.14277+15A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578221A= | CA2335091424 | RYR1 | c.1300+17A= c.2697+17A= c.2669+17A= c.14364+17A= (n.14364+17A=) c.14349+17A= (n.14349+17A=) c.14346+17A= (n.14346+17A=) c.14331+17A= (n.14331+17A=) c.14361+17A= (n.14361+17A=) c.14277+17A= (n.14277+17A=) | |
19 | g.38578221A>C | CA2335091425 | RYR1 | c.1300+17A>C c.2697+17A>C c.2669+17A>C c.14364+17A>C (n.14364+17A>C) c.14349+17A>C (n.14349+17A>C) c.14346+17A>C (n.14346+17A>C) c.14331+17A>C (n.14331+17A>C) c.14361+17A>C (n.14361+17A>C) c.14277+17A>C (n.14277+17A>C) | dbSNP |
19 | g.38578221A>G | CA061139 | RYR1 | c.1300+17A>G c.2697+17A>G c.2669+17A>G c.14364+17A>G (n.14364+17A>G) c.14349+17A>G (n.14349+17A>G) c.14346+17A>G (n.14346+17A>G) c.14331+17A>G (n.14331+17A>G) c.14361+17A>G (n.14361+17A>G) c.14277+17A>G (n.14277+17A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578222G>C | CA2335091427 | RYR1 | c.1300+18G>C c.2697+18G>C c.2669+18G>C c.14364+18G>C (n.14364+18G>C) c.14349+18G>C (n.14349+18G>C) c.14346+18G>C (n.14346+18G>C) c.14331+18G>C (n.14331+18G>C) c.14361+18G>C (n.14361+18G>C) c.14277+18G>C (n.14277+18G>C) | dbSNP |
19 | g.38578222G= | CA2335091426 | RYR1 | c.1300+18G= c.2697+18G= c.2669+18G= c.14364+18G= (n.14364+18G=) c.14349+18G= (n.14349+18G=) c.14346+18G= (n.14346+18G=) c.14331+18G= (n.14331+18G=) c.14361+18G= (n.14361+18G=) c.14277+18G= (n.14277+18G=) | |
19 | g.38578224C>T | CA2736063116 | RYR1 | c.1300+20C>T c.2697+20C>T c.2669+20C>T c.14364+20C>T (n.14364+20C>T) c.14349+20C>T (n.14349+20C>T) c.14346+20C>T (n.14346+20C>T) c.14331+20C>T (n.14331+20C>T) c.14361+20C>T (n.14361+20C>T) c.14277+20C>T (n.14277+20C>T) | dbSNP |
19 | g.38578225T>G | CA2584910746 | RYR1 | c.1300+21T>G c.2697+21T>G c.2669+21T>G c.14364+21T>G (n.14364+21T>G) c.14349+21T>G (n.14349+21T>G) c.14346+21T>G (n.14346+21T>G) c.14331+21T>G (n.14331+21T>G) c.14361+21T>G (n.14361+21T>G) c.14277+21T>G (n.14277+21T>G) | gnomAD v4 |
19 | g.38578225_38578226del | CA2584910745 | RYR1 | c.1300+21_1300+22del c.2697+21_2697+22del c.2669+21_2669+22del c.14364+21_14364+22del (n.14364+21_14364+22del) c.14349+21_14349+22del (n.14349+21_14349+22del) c.14346+21_14346+22del (n.14346+21_14346+22del) c.14331+21_14331+22del (n.14331+21_14331+22del) c.14361+21_14361+22del (n.14361+21_14361+22del) c.14277+21_14277+22del (n.14277+21_14277+22del) | gnomAD v4 |
19 | g.38578226G>T | CA2584910747 | RYR1 | c.1300+22G>T c.2697+22G>T c.2669+22G>T c.14364+22G>T (n.14364+22G>T) c.14349+22G>T (n.14349+22G>T) c.14346+22G>T (n.14346+22G>T) c.14331+22G>T (n.14331+22G>T) c.14361+22G>T (n.14361+22G>T) c.14277+22G>T (n.14277+22G>T) | gnomAD v4 |
19 | g.38578227G>A | CA2584910748 | RYR1 | c.1300+23G>A c.2697+23G>A c.2669+23G>A c.14364+23G>A (n.14364+23G>A) c.14349+23G>A (n.14349+23G>A) c.14346+23G>A (n.14346+23G>A) c.14331+23G>A (n.14331+23G>A) c.14361+23G>A (n.14361+23G>A) c.14277+23G>A (n.14277+23G>A) | gnomAD v4 |
19 | g.38578227G>C | CA2584910749 | RYR1 | c.1300+23G>C c.2697+23G>C c.2669+23G>C c.14364+23G>C (n.14364+23G>C) c.14349+23G>C (n.14349+23G>C) c.14346+23G>C (n.14346+23G>C) c.14331+23G>C (n.14331+23G>C) c.14361+23G>C (n.14361+23G>C) c.14277+23G>C (n.14277+23G>C) | gnomAD v4 |
19 | g.38578228G>A | CA2584910750 | RYR1 | c.1300+24G>A c.2697+24G>A c.2669+24G>A c.14364+24G>A (n.14364+24G>A) c.14349+24G>A (n.14349+24G>A) c.14346+24G>A (n.14346+24G>A) c.14331+24G>A (n.14331+24G>A) c.14361+24G>A (n.14361+24G>A) c.14277+24G>A (n.14277+24G>A) | gnomAD v4 |
19 | g.38578228G= | CA2335091428 | RYR1 | c.1300+24G= c.2697+24G= c.2669+24G= c.14364+24G= (n.14364+24G=) c.14349+24G= (n.14349+24G=) c.14346+24G= (n.14346+24G=) c.14331+24G= (n.14331+24G=) c.14361+24G= (n.14361+24G=) c.14277+24G= (n.14277+24G=) | |
19 | g.38578228G>T | CA882064297 | RYR1 | c.1300+24G>T c.2697+24G>T c.2669+24G>T c.14364+24G>T (n.14364+24G>T) c.14349+24G>T (n.14349+24G>T) c.14346+24G>T (n.14346+24G>T) c.14331+24G>T (n.14331+24G>T) c.14361+24G>T (n.14361+24G>T) c.14277+24G>T (n.14277+24G>T) | dbSNP |
19 | g.38578231G>A | CA2584910751 | RYR1 | c.1300+27G>A c.2697+27G>A c.2669+27G>A c.14364+27G>A (n.14364+27G>A) c.14349+27G>A (n.14349+27G>A) c.14346+27G>A (n.14346+27G>A) c.14331+27G>A (n.14331+27G>A) c.14361+27G>A (n.14361+27G>A) c.14277+27G>A (n.14277+27G>A) | gnomAD v4 |
19 | g.38578231G>T | CA2584910752 | RYR1 | c.1300+27G>T c.2697+27G>T c.2669+27G>T c.14364+27G>T (n.14364+27G>T) c.14349+27G>T (n.14349+27G>T) c.14346+27G>T (n.14346+27G>T) c.14331+27G>T (n.14331+27G>T) c.14361+27G>T (n.14361+27G>T) c.14277+27G>T (n.14277+27G>T) | gnomAD v4 |
19 | g.38578232G>A | CA995739600 | RYR1 | c.1300+28G>A c.2697+28G>A c.2669+28G>A c.14364+28G>A (n.14364+28G>A) c.14349+28G>A (n.14349+28G>A) c.14346+28G>A (n.14346+28G>A) c.14331+28G>A (n.14331+28G>A) c.14361+28G>A (n.14361+28G>A) c.14277+28G>A (n.14277+28G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578232G= | CA2335091429 | RYR1 | c.1300+28G= c.2697+28G= c.2669+28G= c.14364+28G= (n.14364+28G=) c.14349+28G= (n.14349+28G=) c.14346+28G= (n.14346+28G=) c.14331+28G= (n.14331+28G=) c.14361+28G= (n.14361+28G=) c.14277+28G= (n.14277+28G=) | |
19 | g.38578233G>A | CA2584910753 | RYR1 | c.1300+29G>A c.2697+29G>A c.2669+29G>A c.14364+29G>A (n.14364+29G>A) c.14349+29G>A (n.14349+29G>A) c.14346+29G>A (n.14346+29G>A) c.14331+29G>A (n.14331+29G>A) c.14361+29G>A (n.14361+29G>A) c.14277+29G>A (n.14277+29G>A) | gnomAD v4 |
19 | g.38578234A>C | CA2584910754 | RYR1 | c.1300+30A>C c.2697+30A>C c.2669+30A>C c.14364+30A>C (n.14364+30A>C) c.14349+30A>C (n.14349+30A>C) c.14346+30A>C (n.14346+30A>C) c.14331+30A>C (n.14331+30A>C) c.14361+30A>C (n.14361+30A>C) c.14277+30A>C (n.14277+30A>C) | gnomAD v4 |
19 | g.38578235C= | CA2335091430 | RYR1 | c.1300+31C= c.2697+31C= c.2669+31C= c.14364+31C= (n.14364+31C=) c.14349+31C= (n.14349+31C=) c.14346+31C= (n.14346+31C=) c.14331+31C= (n.14331+31C=) c.14361+31C= (n.14361+31C=) c.14277+31C= (n.14277+31C=) | |
19 | g.38578235C>G | CA061140 | RYR1 | c.1300+31C>G c.2697+31C>G c.2669+31C>G c.14364+31C>G (n.14364+31C>G) c.14349+31C>G (n.14349+31C>G) c.14346+31C>G (n.14346+31C>G) c.14331+31C>G (n.14331+31C>G) c.14361+31C>G (n.14361+31C>G) c.14277+31C>G (n.14277+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578235C>T | CA061141 | RYR1 | c.1300+31C>T c.2697+31C>T c.2669+31C>T c.14364+31C>T (n.14364+31C>T) c.14349+31C>T (n.14349+31C>T) c.14346+31C>T (n.14346+31C>T) c.14331+31C>T (n.14331+31C>T) c.14361+31C>T (n.14361+31C>T) c.14277+31C>T (n.14277+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578237C>A | CA2584910756 | RYR1 | c.1300+33C>A c.2697+33C>A c.2669+33C>A c.14364+33C>A (n.14364+33C>A) c.14349+33C>A (n.14349+33C>A) c.14346+33C>A (n.14346+33C>A) c.14331+33C>A (n.14331+33C>A) c.14361+33C>A (n.14361+33C>A) c.14277+33C>A (n.14277+33C>A) | gnomAD v4 |
19 | g.38578237C>T | CA2584910755 | RYR1 | c.1300+33C>T c.2697+33C>T c.2669+33C>T c.14364+33C>T (n.14364+33C>T) c.14349+33C>T (n.14349+33C>T) c.14346+33C>T (n.14346+33C>T) c.14331+33C>T (n.14331+33C>T) c.14361+33C>T (n.14361+33C>T) c.14277+33C>T (n.14277+33C>T) | gnomAD v4 |
19 | g.38578238T>C | CA2576827483 | RYR1 | c.1300+34T>C c.2697+34T>C c.2669+34T>C c.14364+34T>C (n.14364+34T>C) c.14349+34T>C (n.14349+34T>C) c.14346+34T>C (n.14346+34T>C) c.14331+34T>C (n.14331+34T>C) c.14361+34T>C (n.14361+34T>C) c.14277+34T>C (n.14277+34T>C) | |
19 | g.38578239G>A | CA2576827484 | RYR1 | c.1300+35G>A c.2697+35G>A c.2669+35G>A c.14364+35G>A (n.14364+35G>A) c.14349+35G>A (n.14349+35G>A) c.14346+35G>A (n.14346+35G>A) c.14331+35G>A (n.14331+35G>A) c.14361+35G>A (n.14361+35G>A) c.14277+35G>A (n.14277+35G>A) | gnomAD v4 |
19 | g.38578240C>A | CA2584910757 | RYR1 | c.1300+36C>A c.2697+36C>A c.2669+36C>A c.14364+36C>A (n.14364+36C>A) c.14349+36C>A (n.14349+36C>A) c.14346+36C>A (n.14346+36C>A) c.14331+36C>A (n.14331+36C>A) c.14361+36C>A (n.14361+36C>A) c.14277+36C>A (n.14277+36C>A) | gnomAD v4 |
19 | g.38578240C= | CA2335091431 | RYR1 | c.1300+36C= c.2697+36C= c.2669+36C= c.14364+36C= (n.14364+36C=) c.14349+36C= (n.14349+36C=) c.14346+36C= (n.14346+36C=) c.14331+36C= (n.14331+36C=) c.14361+36C= (n.14361+36C=) c.14277+36C= (n.14277+36C=) | |
19 | g.38578240C>T | CA632876713 | RYR1 | c.1300+36C>T c.2697+36C>T c.2669+36C>T c.14364+36C>T (n.14364+36C>T) c.14349+36C>T (n.14349+36C>T) c.14346+36C>T (n.14346+36C>T) c.14331+36C>T (n.14331+36C>T) c.14361+36C>T (n.14361+36C>T) c.14277+36C>T (n.14277+36C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578241A>T | CA2584910758 | RYR1 | c.1300+37A>T c.2697+37A>T c.2669+37A>T c.14364+37A>T (n.14364+37A>T) c.14349+37A>T (n.14349+37A>T) c.14346+37A>T (n.14346+37A>T) c.14331+37A>T (n.14331+37A>T) c.14361+37A>T (n.14361+37A>T) c.14277+37A>T (n.14277+37A>T) | gnomAD v4 |
19 | g.38578242G>A | CA061145 | RYR1 | c.1300+38G>A c.2697+38G>A c.2669+38G>A c.14364+38G>A (n.14364+38G>A) c.14349+38G>A (n.14349+38G>A) c.14346+38G>A (n.14346+38G>A) c.14331+38G>A (n.14331+38G>A) c.14361+38G>A (n.14361+38G>A) c.14277+38G>A (n.14277+38G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38578242G= | CA2335091432 | RYR1 | c.1300+38G= c.2697+38G= c.2669+38G= c.14364+38G= (n.14364+38G=) c.14349+38G= (n.14349+38G=) c.14346+38G= (n.14346+38G=) c.14331+38G= (n.14331+38G=) c.14361+38G= (n.14361+38G=) c.14277+38G= (n.14277+38G=) | |
19 | g.38578242G>T | CA2584910759 | RYR1 | c.1300+38G>T c.2697+38G>T c.2669+38G>T c.14364+38G>T (n.14364+38G>T) c.14349+38G>T (n.14349+38G>T) c.14346+38G>T (n.14346+38G>T) c.14331+38G>T (n.14331+38G>T) c.14361+38G>T (n.14361+38G>T) c.14277+38G>T (n.14277+38G>T) | gnomAD v4 |
19 | g.38578243G>A | CA632876717 | RYR1 | c.1300+39G>A c.2697+39G>A c.2669+39G>A c.14364+39G>A (n.14364+39G>A) c.14349+39G>A (n.14349+39G>A) c.14346+39G>A (n.14346+39G>A) c.14331+39G>A (n.14331+39G>A) c.14361+39G>A (n.14361+39G>A) c.14277+39G>A (n.14277+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578243G= | CA2335091433 | RYR1 | c.1300+39G= c.2697+39G= c.2669+39G= c.14364+39G= (n.14364+39G=) c.14349+39G= (n.14349+39G=) c.14346+39G= (n.14346+39G=) c.14331+39G= (n.14331+39G=) c.14361+39G= (n.14361+39G=) c.14277+39G= (n.14277+39G=) | |
19 | g.38578243G>T | CA2530828466 | RYR1 | c.1300+39G>T c.2697+39G>T c.2669+39G>T c.14364+39G>T (n.14364+39G>T) c.14349+39G>T (n.14349+39G>T) c.14346+39G>T (n.14346+39G>T) c.14331+39G>T (n.14331+39G>T) c.14361+39G>T (n.14361+39G>T) c.14277+39G>T (n.14277+39G>T) | gnomAD v4 |
19 | g.38578244G>A | CA632876718 | RYR1 | c.1300+40G>A c.2697+40G>A c.2669+40G>A c.14364+40G>A (n.14364+40G>A) c.14349+40G>A (n.14349+40G>A) c.14346+40G>A (n.14346+40G>A) c.14331+40G>A (n.14331+40G>A) c.14361+40G>A (n.14361+40G>A) c.14277+40G>A (n.14277+40G>A) | dbSNP gnomAD v2 |
19 | g.38578244G= | CA2335091434 | RYR1 | c.1300+40G= c.2697+40G= c.2669+40G= c.14364+40G= (n.14364+40G=) c.14349+40G= (n.14349+40G=) c.14346+40G= (n.14346+40G=) c.14331+40G= (n.14331+40G=) c.14361+40G= (n.14361+40G=) c.14277+40G= (n.14277+40G=) | |
19 | g.38578245G>A | CA882064298 | RYR1 | c.1300+41G>A c.2697+41G>A c.2669+41G>A c.14364+41G>A (n.14364+41G>A) c.14349+41G>A (n.14349+41G>A) c.14346+41G>A (n.14346+41G>A) c.14331+41G>A (n.14331+41G>A) c.14361+41G>A (n.14361+41G>A) c.14277+41G>A (n.14277+41G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38578245G>C | CA632876720 | RYR1 | c.1300+41G>C c.2697+41G>C c.2669+41G>C c.14364+41G>C (n.14364+41G>C) c.14349+41G>C (n.14349+41G>C) c.14346+41G>C (n.14346+41G>C) c.14331+41G>C (n.14331+41G>C) c.14361+41G>C (n.14361+41G>C) c.14277+41G>C (n.14277+41G>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578245G= | CA2335091435 | RYR1 | c.1300+41G= c.2697+41G= c.2669+41G= c.14364+41G= (n.14364+41G=) c.14349+41G= (n.14349+41G=) c.14346+41G= (n.14346+41G=) c.14331+41G= (n.14331+41G=) c.14361+41G= (n.14361+41G=) c.14277+41G= (n.14277+41G=) | |
19 | g.38578245G>T | CA061146 | RYR1 | c.1300+41G>T c.2697+41G>T c.2669+41G>T c.14364+41G>T (n.14364+41G>T) c.14349+41G>T (n.14349+41G>T) c.14346+41G>T (n.14346+41G>T) c.14331+41G>T (n.14331+41G>T) c.14361+41G>T (n.14361+41G>T) c.14277+41G>T (n.14277+41G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578246T>C | CA2584910760 | RYR1 | c.1300+42T>C c.2697+42T>C c.2669+42T>C c.14364+42T>C (n.14364+42T>C) c.14349+42T>C (n.14349+42T>C) c.14346+42T>C (n.14346+42T>C) c.14331+42T>C (n.14331+42T>C) c.14361+42T>C (n.14361+42T>C) c.14277+42T>C (n.14277+42T>C) | gnomAD v4 |
19 | g.38578247G>A | CA632876723 | RYR1 | c.1300+43G>A c.2697+43G>A c.2669+43G>A c.14364+43G>A (n.14364+43G>A) c.14349+43G>A (n.14349+43G>A) c.14346+43G>A (n.14346+43G>A) c.14331+43G>A (n.14331+43G>A) c.14361+43G>A (n.14361+43G>A) c.14277+43G>A (n.14277+43G>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38578247G>C | CA061147 | RYR1 | c.1300+43G>C c.2697+43G>C c.2669+43G>C c.14364+43G>C (n.14364+43G>C) c.14349+43G>C (n.14349+43G>C) c.14346+43G>C (n.14346+43G>C) c.14331+43G>C (n.14331+43G>C) c.14361+43G>C (n.14361+43G>C) c.14277+43G>C (n.14277+43G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38578247G= | CA2335091436 | RYR1 | c.1300+43G= c.2697+43G= c.2669+43G= c.14364+43G= (n.14364+43G=) c.14349+43G= (n.14349+43G=) c.14346+43G= (n.14346+43G=) c.14331+43G= (n.14331+43G=) c.14361+43G= (n.14361+43G=) c.14277+43G= (n.14277+43G=) | |
19 | g.38578250del | CA2576827485 | RYR1 | c.1300+46del c.2697+46del c.2669+46del c.14364+46del (n.14364+46del) c.14349+46del (n.14349+46del) c.14346+46del (n.14346+46del) c.14331+46del (n.14331+46del) c.14361+46del (n.14361+46del) c.14277+46del (n.14277+46del) | gnomAD v4 |