| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580403_38580429dup | CA891863041 | RYR1 | c.1481_1507dup c.2878_2904dup c.2850_2876dup c.14545_14571dup (p.Phe4857_Asn4858insValTyrLeuTyrThrValValAlaPhe) c.14530_14556dup (p.Phe4852_Asn4853insValTyrLeuTyrThrValValAlaPhe) c.14527_14553dup (p.Phe4851_Asn4852insValTyrLeuTyrThrValValAlaPhe) c.14512_14538dup (p.Phe4846_Asn4847insValTyrLeuTyrThrValValAlaPhe) c.14542_14568dup (p.Phe4856_Asn4857insValTyrLeuTyrThrValValAlaPhe) c.14458_14484dup (p.Phe4828_Asn4829insValTyrLeuTyrThrValValAlaPhe) | ClinVar dbSNP |
| 19 | g.38580403G>A | CA024171 | RYR1 | c.1481G>A c.2878G>A c.2850G>A c.14545G>A (p.Val4849Ile) c.14530G>A (p.Val4844Ile) c.14527G>A (p.Val4843Ile) c.14512G>A (p.Val4838Ile) c.14542G>A (p.Val4848Ile) c.14458G>A (p.Val4820Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580403G>C | CA405687656 | RYR1 | c.1481G>C c.2878G>C c.2850G>C c.14545G>C (p.Val4849Leu) c.14530G>C (p.Val4844Leu) c.14527G>C (p.Val4843Leu) c.14512G>C (p.Val4838Leu) c.14542G>C (p.Val4848Leu) c.14458G>C (p.Val4820Leu) | |
| 19 | g.38580403G= | CA2335092460 | RYR1 | c.1481G= c.2878G= c.2850G= c.14545G= (p.Val4849=) c.14530G= (p.Val4844=) c.14527G= (p.Val4843=) c.14512G= (p.Val4838=) c.14542G= (p.Val4848=) c.14458G= (p.Val4820=) | |
| 19 | g.38580403G>T | CA405687657 | RYR1 | c.1481G>T c.2878G>T c.2850G>T c.14545G>T (p.Val4849Phe) c.14530G>T (p.Val4844Phe) c.14527G>T (p.Val4843Phe) c.14512G>T (p.Val4838Phe) c.14542G>T (p.Val4848Phe) c.14458G>T (p.Val4820Phe) | ClinVar dbSNP COSMIC |
| 19 | g.38580404T>A | CA405687658 | RYR1 | c.1482T>A c.2879T>A c.2851T>A c.14546T>A (p.Val4849Asp) c.14531T>A (p.Val4844Asp) c.14528T>A (p.Val4843Asp) c.14513T>A (p.Val4838Asp) c.14543T>A (p.Val4848Asp) c.14459T>A (p.Val4820Asp) | |
| 19 | g.38580404T>C | CA405687659 | RYR1 | c.1482T>C c.2879T>C c.2851T>C c.14546T>C (p.Val4849Ala) c.14531T>C (p.Val4844Ala) c.14528T>C (p.Val4843Ala) c.14513T>C (p.Val4838Ala) c.14543T>C (p.Val4848Ala) c.14459T>C (p.Val4820Ala) | |
| 19 | g.38580404T>G | CA405687660 | RYR1 | c.1482T>G c.2879T>G c.2851T>G c.14546T>G (p.Val4849Gly) c.14531T>G (p.Val4844Gly) c.14528T>G (p.Val4843Gly) c.14513T>G (p.Val4838Gly) c.14543T>G (p.Val4848Gly) c.14459T>G (p.Val4820Gly) | |
| 19 | g.38580405C>A | CA507356077 | RYR1 | c.1483C>A c.2880C>A c.2852C>A c.14547C>A (p.Val4849=) c.14532C>A (p.Val4844=) c.14529C>A (p.Val4843=) c.14514C>A (p.Val4838=) c.14544C>A (p.Val4848=) c.14460C>A (p.Val4820=) | |
| 19 | g.38580405C>G | CA507356080 | RYR1 | c.1483C>G c.2880C>G c.2852C>G c.14547C>G (p.Val4849=) c.14532C>G (p.Val4844=) c.14529C>G (p.Val4843=) c.14514C>G (p.Val4838=) c.14544C>G (p.Val4848=) c.14460C>G (p.Val4820=) | |
| 19 | g.38580405C>T | CA507356082 | RYR1 | c.1483C>T c.2880C>T c.2852C>T c.14547C>T (p.Val4849=) c.14532C>T (p.Val4844=) c.14529C>T (p.Val4843=) c.14514C>T (p.Val4838=) c.14544C>T (p.Val4848=) c.14460C>T (p.Val4820=) | |
| 19 | g.38580406T>A | CA405687662 | RYR1 | c.1484T>A c.2881T>A c.2853T>A c.14548T>A (p.Tyr4850Asn) c.14533T>A (p.Tyr4845Asn) c.14530T>A (p.Tyr4844Asn) c.14515T>A (p.Tyr4839Asn) c.14545T>A (p.Tyr4849Asn) c.14461T>A (p.Tyr4821Asn) | |
| 19 | g.38580406T>C | CA405687664 | RYR1 | c.1484T>C c.2881T>C c.2853T>C c.14548T>C (p.Tyr4850His) c.14533T>C (p.Tyr4845His) c.14530T>C (p.Tyr4844His) c.14515T>C (p.Tyr4839His) c.14545T>C (p.Tyr4849His) c.14461T>C (p.Tyr4821His) | ClinVar dbSNP |
| 19 | g.38580406T>G | CA405687666 | RYR1 | c.1484T>G c.2881T>G c.2853T>G c.14548T>G (p.Tyr4850Asp) c.14533T>G (p.Tyr4845Asp) c.14530T>G (p.Tyr4844Asp) c.14515T>G (p.Tyr4839Asp) c.14545T>G (p.Tyr4849Asp) c.14461T>G (p.Tyr4821Asp) | |
| 19 | g.38580407A= | CA2335092461 | RYR1 | c.1485A= c.2882A= c.2854A= c.14549A= (p.Tyr4850=) c.14534A= (p.Tyr4845=) c.14531A= (p.Tyr4844=) c.14516A= (p.Tyr4839=) c.14546A= (p.Tyr4849=) c.14462A= (p.Tyr4821=) | |
| 19 | g.38580407A>C | CA405687668 | RYR1 | c.1485A>C c.2882A>C c.2854A>C c.14549A>C (p.Tyr4850Ser) c.14534A>C (p.Tyr4845Ser) c.14531A>C (p.Tyr4844Ser) c.14516A>C (p.Tyr4839Ser) c.14546A>C (p.Tyr4849Ser) c.14462A>C (p.Tyr4821Ser) | |
| 19 | g.38580407A>G | CA405687669 | RYR1 | c.1485A>G c.2882A>G c.2854A>G c.14549A>G (p.Tyr4850Cys) c.14534A>G (p.Tyr4845Cys) c.14531A>G (p.Tyr4844Cys) c.14516A>G (p.Tyr4839Cys) c.14546A>G (p.Tyr4849Cys) c.14462A>G (p.Tyr4821Cys) | dbSNP |
| 19 | g.38580407A>T | CA405687670 | RYR1 | c.1485A>T c.2882A>T c.2854A>T c.14549A>T (p.Tyr4850Phe) c.14534A>T (p.Tyr4845Phe) c.14531A>T (p.Tyr4844Phe) c.14516A>T (p.Tyr4839Phe) c.14546A>T (p.Tyr4849Phe) c.14462A>T (p.Tyr4821Phe) | |
| 19 | g.38580408C>A | CA405687671 | RYR1 | c.1486C>A c.2883C>A c.2855C>A c.14550C>A (p.Tyr4850Ter) c.14535C>A (p.Tyr4845Ter) c.14532C>A (p.Tyr4844Ter) c.14517C>A (p.Tyr4839Ter) c.14547C>A (p.Tyr4849Ter) c.14463C>A (p.Tyr4821Ter) | |
| 19 | g.38580408C>G | CA405687672 | RYR1 | c.1486C>G c.2883C>G c.2855C>G c.14550C>G (p.Tyr4850Ter) c.14535C>G (p.Tyr4845Ter) c.14532C>G (p.Tyr4844Ter) c.14517C>G (p.Tyr4839Ter) c.14547C>G (p.Tyr4849Ter) c.14463C>G (p.Tyr4821Ter) | |
| 19 | g.38580408C>T | CA507356087 | RYR1 | c.1486C>T c.2883C>T c.2855C>T c.14550C>T (p.Tyr4850=) c.14535C>T (p.Tyr4845=) c.14532C>T (p.Tyr4844=) c.14517C>T (p.Tyr4839=) c.14547C>T (p.Tyr4849=) c.14463C>T (p.Tyr4821=) | |
| 19 | g.38580409C>A | CA405687673 | RYR1 | c.1487C>A c.2884C>A c.2856C>A c.14551C>A (p.Leu4851Met) c.14536C>A (p.Leu4846Met) c.14533C>A (p.Leu4845Met) c.14518C>A (p.Leu4840Met) c.14548C>A (p.Leu4850Met) c.14464C>A (p.Leu4822Met) | |
| 19 | g.38580409C>G | CA405687674 | RYR1 | c.1487C>G c.2884C>G c.2856C>G c.14551C>G (p.Leu4851Val) c.14536C>G (p.Leu4846Val) c.14533C>G (p.Leu4845Val) c.14518C>G (p.Leu4840Val) c.14548C>G (p.Leu4850Val) c.14464C>G (p.Leu4822Val) | |
| 19 | g.38580409C>T | CA507356088 | RYR1 | c.1487C>T c.2884C>T c.2856C>T c.14551C>T (p.Leu4851=) c.14536C>T (p.Leu4846=) c.14533C>T (p.Leu4845=) c.14518C>T (p.Leu4840=) c.14548C>T (p.Leu4850=) c.14464C>T (p.Leu4822=) | |
| 19 | g.38580410T>A | CA405687675 | RYR1 | c.1488T>A c.2885T>A c.2857T>A c.14552T>A (p.Leu4851Gln) c.14537T>A (p.Leu4846Gln) c.14534T>A (p.Leu4845Gln) c.14519T>A (p.Leu4840Gln) c.14549T>A (p.Leu4850Gln) c.14465T>A (p.Leu4822Gln) | |
| 19 | g.38580410T>C | CA405687678 | RYR1 | c.1488T>C c.2885T>C c.2857T>C c.14552T>C (p.Leu4851Pro) c.14537T>C (p.Leu4846Pro) c.14534T>C (p.Leu4845Pro) c.14519T>C (p.Leu4840Pro) c.14549T>C (p.Leu4850Pro) c.14465T>C (p.Leu4822Pro) | ClinVar dbSNP |
| 19 | g.38580410T>G | CA405687676 | RYR1 | c.1488T>G c.2885T>G c.2857T>G c.14552T>G (p.Leu4851Arg) c.14537T>G (p.Leu4846Arg) c.14534T>G (p.Leu4845Arg) c.14519T>G (p.Leu4840Arg) c.14549T>G (p.Leu4850Arg) c.14465T>G (p.Leu4822Arg) | dbSNP |
| 19 | g.38580410T= | CA2335092462 | RYR1 | c.1488T= c.2885T= c.2857T= c.14552T= (p.Leu4851=) c.14537T= (p.Leu4846=) c.14534T= (p.Leu4845=) c.14519T= (p.Leu4840=) c.14549T= (p.Leu4850=) c.14465T= (p.Leu4822=) | |
| 19 | g.38580411G>A | CA507356095 | RYR1 | c.1489G>A c.2886G>A c.2858G>A c.14553G>A (p.Leu4851=) c.14538G>A (p.Leu4846=) c.14535G>A (p.Leu4845=) c.14520G>A (p.Leu4840=) c.14550G>A (p.Leu4850=) c.14466G>A (p.Leu4822=) | ClinVar dbSNP |
| 19 | g.38580411G>C | CA507356097 | RYR1 | c.1489G>C c.2886G>C c.2858G>C c.14553G>C (p.Leu4851=) c.14538G>C (p.Leu4846=) c.14535G>C (p.Leu4845=) c.14520G>C (p.Leu4840=) c.14550G>C (p.Leu4850=) c.14466G>C (p.Leu4822=) | |
| 19 | g.38580411G>T | CA507356098 | RYR1 | c.1489G>T c.2886G>T c.2858G>T c.14553G>T (p.Leu4851=) c.14538G>T (p.Leu4846=) c.14535G>T (p.Leu4845=) c.14520G>T (p.Leu4840=) c.14550G>T (p.Leu4850=) c.14466G>T (p.Leu4822=) | |
| 19 | g.38580412T>A | CA405687680 | RYR1 | c.1490T>A c.2887T>A c.2859T>A c.14554T>A (p.Tyr4852Asn) c.14539T>A (p.Tyr4847Asn) c.14536T>A (p.Tyr4846Asn) c.14521T>A (p.Tyr4841Asn) c.14551T>A (p.Tyr4851Asn) c.14467T>A (p.Tyr4823Asn) | |
| 19 | g.38580412T>C | CA405687683 | RYR1 | c.1490T>C c.2887T>C c.2859T>C c.14554T>C (p.Tyr4852His) c.14539T>C (p.Tyr4847His) c.14536T>C (p.Tyr4846His) c.14521T>C (p.Tyr4841His) c.14551T>C (p.Tyr4851His) c.14467T>C (p.Tyr4823His) | |
| 19 | g.38580412T>G | CA405687682 | RYR1 | c.1490T>G c.2887T>G c.2859T>G c.14554T>G (p.Tyr4852Asp) c.14539T>G (p.Tyr4847Asp) c.14536T>G (p.Tyr4846Asp) c.14521T>G (p.Tyr4841Asp) c.14551T>G (p.Tyr4851Asp) c.14467T>G (p.Tyr4823Asp) | |
| 19 | g.38580413A= | CA2335092463 | RYR1 | c.1491A= c.2888A= c.2860A= c.14555A= (p.Tyr4852=) c.14540A= (p.Tyr4847=) c.14537A= (p.Tyr4846=) c.14522A= (p.Tyr4841=) c.14552A= (p.Tyr4851=) c.14468A= (p.Tyr4823=) | |
| 19 | g.38580413A>C | CA405687685 | RYR1 | c.1491A>C c.2888A>C c.2860A>C c.14555A>C (p.Tyr4852Ser) c.14540A>C (p.Tyr4847Ser) c.14537A>C (p.Tyr4846Ser) c.14522A>C (p.Tyr4841Ser) c.14552A>C (p.Tyr4851Ser) c.14468A>C (p.Tyr4823Ser) | |
| 19 | g.38580413A>G | CA10604732 | RYR1 | c.1491A>G c.2888A>G c.2860A>G c.14555A>G (p.Tyr4852Cys) c.14540A>G (p.Tyr4847Cys) c.14537A>G (p.Tyr4846Cys) c.14522A>G (p.Tyr4841Cys) c.14552A>G (p.Tyr4851Cys) c.14468A>G (p.Tyr4823Cys) | ClinVar dbSNP |
| 19 | g.38580413A>T | CA405687687 | RYR1 | c.1491A>T c.2888A>T c.2860A>T c.14555A>T (p.Tyr4852Phe) c.14540A>T (p.Tyr4847Phe) c.14537A>T (p.Tyr4846Phe) c.14522A>T (p.Tyr4841Phe) c.14552A>T (p.Tyr4851Phe) c.14468A>T (p.Tyr4823Phe) | |
| 19 | g.38580414C>A | CA405687689 | RYR1 | c.1492C>A c.2889C>A c.2861C>A c.14556C>A (p.Tyr4852Ter) c.14541C>A (p.Tyr4847Ter) c.14538C>A (p.Tyr4846Ter) c.14523C>A (p.Tyr4841Ter) c.14553C>A (p.Tyr4851Ter) c.14469C>A (p.Tyr4823Ter) | |
| 19 | g.38580414C>G | CA405687690 | RYR1 | c.1492C>G c.2889C>G c.2861C>G c.14556C>G (p.Tyr4852Ter) c.14541C>G (p.Tyr4847Ter) c.14538C>G (p.Tyr4846Ter) c.14523C>G (p.Tyr4841Ter) c.14553C>G (p.Tyr4851Ter) c.14469C>G (p.Tyr4823Ter) | |
| 19 | g.38580414C>T | CA507356102 | RYR1 | c.1492C>T c.2889C>T c.2861C>T c.14556C>T (p.Tyr4852=) c.14541C>T (p.Tyr4847=) c.14538C>T (p.Tyr4846=) c.14523C>T (p.Tyr4841=) c.14553C>T (p.Tyr4851=) c.14469C>T (p.Tyr4823=) | gnomAD v4 |
| 19 | g.38580415A>C | CA405687691 | RYR1 | c.1493A>C c.2890A>C c.2862A>C c.14557A>C (p.Thr4853Pro) c.14542A>C (p.Thr4848Pro) c.14539A>C (p.Thr4847Pro) c.14524A>C (p.Thr4842Pro) c.14554A>C (p.Thr4852Pro) c.14470A>C (p.Thr4824Pro) | |
| 19 | g.38580415A>G | CA405687692 | RYR1 | c.1493A>G c.2890A>G c.2862A>G c.14557A>G (p.Thr4853Ala) c.14542A>G (p.Thr4848Ala) c.14539A>G (p.Thr4847Ala) c.14524A>G (p.Thr4842Ala) c.14554A>G (p.Thr4852Ala) c.14470A>G (p.Thr4824Ala) | gnomAD v4 |
| 19 | g.38580415A>T | CA405687693 | RYR1 | c.1493A>T c.2890A>T c.2862A>T c.14557A>T (p.Thr4853Ser) c.14542A>T (p.Thr4848Ser) c.14539A>T (p.Thr4847Ser) c.14524A>T (p.Thr4842Ser) c.14554A>T (p.Thr4852Ser) c.14470A>T (p.Thr4824Ser) | |
| 19 | g.38580416C>A | CA405687695 | RYR1 | c.1494C>A c.2891C>A c.2863C>A c.14558C>A (p.Thr4853Asn) c.14543C>A (p.Thr4848Asn) c.14540C>A (p.Thr4847Asn) c.14525C>A (p.Thr4842Asn) c.14555C>A (p.Thr4852Asn) c.14471C>A (p.Thr4824Asn) | ClinVar |
| 19 | g.38580416C= | CA2335092464 | RYR1 | c.1494C= c.2891C= c.2863C= c.14558C= (p.Thr4853=) c.14543C= (p.Thr4848=) c.14540C= (p.Thr4847=) c.14525C= (p.Thr4842=) c.14555C= (p.Thr4852=) c.14471C= (p.Thr4824=) | |
| 19 | g.38580416C>G | CA405687697 | RYR1 | c.1494C>G c.2891C>G c.2863C>G c.14558C>G (p.Thr4853Ser) c.14543C>G (p.Thr4848Ser) c.14540C>G (p.Thr4847Ser) c.14525C>G (p.Thr4842Ser) c.14555C>G (p.Thr4852Ser) c.14471C>G (p.Thr4824Ser) | gnomAD v4 |
| 19 | g.38580416C>T | CA405687698 | RYR1 | c.1494C>T c.2891C>T c.2863C>T c.14558C>T (p.Thr4853Ile) c.14543C>T (p.Thr4848Ile) c.14540C>T (p.Thr4847Ile) c.14525C>T (p.Thr4842Ile) c.14555C>T (p.Thr4852Ile) c.14471C>T (p.Thr4824Ile) | ClinVar dbSNP |
| 19 | g.38580417C>A | CA507356105 | RYR1 | c.1495C>A c.2892C>A c.2864C>A c.14559C>A (p.Thr4853=) c.14544C>A (p.Thr4848=) c.14541C>A (p.Thr4847=) c.14526C>A (p.Thr4842=) c.14556C>A (p.Thr4852=) c.14472C>A (p.Thr4824=) | |
| 19 | g.38580417C= | CA2335092465 | RYR1 | c.1495C= c.2892C= c.2864C= c.14559C= (p.Thr4853=) c.14544C= (p.Thr4848=) c.14541C= (p.Thr4847=) c.14526C= (p.Thr4842=) c.14556C= (p.Thr4852=) c.14472C= (p.Thr4824=) |