Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38446509T>A | CA405679510 | RYR1 | c.669T>A (p.His223Gln) n.752T>A | |
19 | g.38446509T>C | CA507241461 | RYR1 | c.669T>C (p.His223=) n.752T>C | dbSNP |
19 | g.38446509T>G | CA405679512 | RYR1 | c.669T>G (p.His223Gln) n.752T>G | |
19 | g.38446509T= | CA2335027116 | RYR1 | c.669T= (p.His223=) n.752T= | |
19 | g.38446510G>A | CA405679515 | RYR1 | c.670G>A (p.Gly224Arg) n.753G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38446510G>C | CA405679514 | RYR1 | c.670G>C (p.Gly224Arg) n.753G>C | |
19 | g.38446510G= | CA2335027117 | RYR1 | c.670G= (p.Gly224=) n.753G= | |
19 | g.38446510G>T | CA405679513 | RYR1 | c.670G>T (p.Gly224Ter) n.753G>T | COSMIC |
19 | g.38446511G>A | CA405679517 | RYR1 | c.671G>A (p.Gly224Glu) n.754G>A | |
19 | g.38446511G>C | CA405679519 | RYR1 | c.671G>C (p.Gly224Ala) n.754G>C | |
19 | g.38446511G>T | CA405679522 | RYR1 | c.671G>T (p.Gly224Val) n.754G>T | |
19 | g.38446512A>C | CA507241464 | RYR1 | c.672A>C (p.Gly224=) n.755A>C | |
19 | g.38446512A>G | CA507241462 | RYR1 | c.672A>G (p.Gly224=) n.755A>G | |
19 | g.38446512A>T | CA507241463 | RYR1 | c.672A>T (p.Gly224=) n.755A>T | |
19 | g.38446513C>A | CA405679524 | RYR1 | c.673C>A (p.His225Asn) n.756C>A | |
19 | g.38446513C>G | CA405679527 | RYR1 | c.673C>G (p.His225Asp) n.756C>G | |
19 | g.38446513C>T | CA405679530 | RYR1 | c.673C>T (p.His225Tyr) n.756C>T | |
19 | g.38446514A= | CA2335027118 | RYR1 | c.674A= (p.His225=) n.757A= | |
19 | g.38446514A>C | CA405679531 | RYR1 | c.674A>C (p.His225Pro) n.757A>C | |
19 | g.38446514A>G | CA405679536 | RYR1 | c.674A>G (p.His225Arg) n.757A>G | gnomAD v4 |
19 | g.38446514A>T | CA405679534 | RYR1 | c.674A>T (p.His225Leu) n.757A>T | dbSNP gnomAD v2 |
19 | g.38446515T>A | CA405679540 | RYR1 | c.675T>A (p.His225Gln) n.758T>A | |
19 | g.38446515T>C | CA507241465 | RYR1 | c.675T>C (p.His225=) n.758T>C | |
19 | g.38446515T>G | CA068650 | RYR1 | c.675T>G (p.His225Gln) n.758T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446515T= | CA2335027119 | RYR1 | c.675T= (p.His225=) n.758T= | |
19 | g.38446516A= | CA2335027120 | RYR1 | c.676A= (p.Met226=) n.759A= | |
19 | g.38446516A>C | CA405679560 | RYR1 | c.676A>C (p.Met226Leu) n.759A>C | |
19 | g.38446516A>G | CA405679561 | RYR1 | c.676A>G (p.Met226Val) n.759A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38446516A>T | CA405679564 | RYR1 | c.676A>T (p.Met226Leu) n.759A>T | |
19 | g.38446517T>A | CA024646 | RYR1 | c.677T>A (p.Met226Lys) n.760T>A | ClinVar dbSNP |
19 | g.38446517T>C | CA068666 | RYR1 | c.677T>C (p.Met226Thr) n.760T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446517T>G | CA405679573 | RYR1 | c.677T>G (p.Met226Arg) n.760T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446517T= | CA2335027121 | RYR1 | c.677T= (p.Met226=) n.760T= | |
19 | g.38446518G>A | CA405679579 | RYR1 | c.678G>A (p.Met226Ile) n.761G>A | gnomAD v4 |
19 | g.38446518G>C | CA405679582 | RYR1 | c.678G>C (p.Met226Ile) n.761G>C | |
19 | g.38446518G>T | CA405679585 | RYR1 | c.678G>T (p.Met226Ile) n.761G>T | |
19 | g.38446518_38446520dup | CA2584893034 | RYR1 | c.678_680dup (p.Met226_Asp227insGlu) n.761_763dup | gnomAD v4 |
19 | g.38446519G>A | CA405679593 | RYR1 | c.679G>A (p.Asp227Asn) n.762G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38446519G>C | CA405679596 | RYR1 | c.679G>C (p.Asp227His) n.762G>C | |
19 | g.38446519G= | CA2335027122 | RYR1 | c.679G= (p.Asp227=) n.762G= | |
19 | g.38446519G>T | CA405679590 | RYR1 | c.679G>T (p.Asp227Tyr) n.762G>T | gnomAD v4 |
19 | g.38446520A= | CA2335027123 | RYR1 | c.680A= (p.Asp227=) n.763A= | |
19 | g.38446520A>C | CA405679598 | RYR1 | c.680A>C (p.Asp227Ala) n.763A>C | |
19 | g.38446520A>G | CA405679600 | RYR1 | c.680A>G (p.Asp227Gly) n.763A>G | |
19 | g.38446520A>T | CA024649 | RYR1 | c.680A>T (p.Asp227Val) n.763A>T | ClinVar dbSNP gnomAD v4 |
19 | g.38446521T>A | CA405679603 | RYR1 | c.681T>A (p.Asp227Glu) n.764T>A | |
19 | g.38446521T>C | CA507241468 | RYR1 | c.681T>C (p.Asp227=) n.764T>C | gnomAD v4 |
19 | g.38446521T>G | CA405679605 | RYR1 | c.681T>G (p.Asp227Glu) n.764T>G | |
19 | g.38446522G>A | CA405679608 | RYR1 | c.682G>A (p.Glu228Lys) n.765G>A | ClinVar dbSNP |
19 | g.38446522G>C | CA405679610 | RYR1 | c.682G>C (p.Glu228Gln) n.765G>C | |
19 | g.38446522G>T | CA405679612 | RYR1 | c.682G>T (p.Glu228Ter) n.765G>T | |
19 | g.38446523A= | CA2335027124 | RYR1 | c.683A= (p.Glu228=) n.766A= | |
19 | g.38446523A>C | CA405679613 | RYR1 | c.683A>C (p.Glu228Ala) n.766A>C | |
19 | g.38446523A>G | CA405679614 | RYR1 | c.683A>G (p.Glu228Gly) n.766A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446523A>T | CA405679615 | RYR1 | c.683A>T (p.Glu228Val) n.766A>T | gnomAD v4 |
19 | g.38446524G>A | CA507241471 | RYR1 | c.684G>A (p.Glu228=) n.767G>A | ClinVar dbSNP |
19 | g.38446524G>C | CA405679616 | RYR1 | c.684G>C (p.Glu228Asp) n.767G>C | |
19 | g.38446524G>T | CA405679618 | RYR1 | c.684G>T (p.Glu228Asp) n.767G>T | |
19 | g.38446524_38446528delinsGTGTC | CA2335027125 | RYR1 | c.684_688delinsGTGTC (p.Glu228=) n.767_771delinsGTGTC | |
19 | g.38446525T>A | CA405679628 | RYR1 | c.685T>A (p.Cys229Ser) n.768T>A | |
19 | g.38446525T>C | CA405679623 | RYR1 | c.685T>C (p.Cys229Arg) n.768T>C | ClinVar dbSNP |
19 | g.38446525T>G | CA405679620 | RYR1 | c.685T>G (p.Cys229Gly) n.768T>G | |
19 | g.38446525T= | CA2335027126 | RYR1 | c.685T= (p.Cys229=) n.768T= | |
19 | g.38446527_38446530del | CA920105433 | RYR1 | c.687_690del (p.Cys229Ter) n.770_773del | dbSNP gnomAD v4 |
19 | g.38446526G>A | CA068828 | RYR1 | c.686G>A (p.Cys229Tyr) n.769G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446526G>C | CA405679630 | RYR1 | c.686G>C (p.Cys229Ser) n.769G>C | |
19 | g.38446526G= | CA2335027127 | RYR1 | c.686G= (p.Cys229=) n.769G= | |
19 | g.38446526G>T | CA405679631 | RYR1 | c.686G>T (p.Cys229Phe) n.769G>T | gnomAD v4 |
19 | g.38446527T>A | CA405679633 | RYR1 | c.687T>A (p.Cys229Ter) n.770T>A | |
19 | g.38446527T>C | CA507241474 | RYR1 | c.687T>C (p.Cys229=) n.770T>C | gnomAD v4 |
19 | g.38446527T>G | CA405679634 | RYR1 | c.687T>G (p.Cys229Trp) n.770T>G | |
19 | g.38446528C>A | CA405679635 | RYR1 | c.688C>A (p.Leu230Met) n.771C>A | |
19 | g.38446528C= | CA2335027128 | RYR1 | c.688C= (p.Leu230=) n.771C= | |
19 | g.38446528C>G | CA405679637 | RYR1 | c.688C>G (p.Leu230Val) n.771C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38446528C>T | CA507241477 | RYR1 | c.688C>T (p.Leu230=) n.771C>T | |
19 | g.38446529T>A | CA405679639 | RYR1 | c.689T>A (p.Leu230Gln) n.772T>A | |
19 | g.38446529T>C | CA405679641 | RYR1 | c.689T>C (p.Leu230Pro) n.772T>C | |
19 | g.38446529T>G | CA405679643 | RYR1 | c.689T>G (p.Leu230Arg) n.772T>G | |
19 | g.38446530G>A | CA507241478 | RYR1 | c.690G>A (p.Leu230=) n.773G>A | |
19 | g.38446530G>C | CA507241479 | RYR1 | c.690G>C (p.Leu230=) n.773G>C | |
19 | g.38446530G>T | CA507241480 | RYR1 | c.690G>T (p.Leu230=) n.773G>T | |
19 | g.38446531A>C | CA405679645 | RYR1 | c.691A>C (p.Thr231Pro) n.774A>C | gnomAD v4 |
19 | g.38446531A>G | CA405679647 | RYR1 | c.691A>G (p.Thr231Ala) n.774A>G | |
19 | g.38446531A>T | CA405679649 | RYR1 | c.691A>T (p.Thr231Ser) n.774A>T | |
19 | g.38446531_38446532delinsAC | CA2335027129 | RYR1 | c.691_692delinsAC (p.Thr231=) n.774_775delinsAC | |
19 | g.38446532C>A | CA405679654 | RYR1 | c.692C>A (p.Thr231Asn) n.775C>A | |
19 | g.38446532C>G | CA405679652 | RYR1 | c.692C>G (p.Thr231Ser) n.775C>G | |
19 | g.38446532C>T | CA405679651 | RYR1 | c.692C>T (p.Thr231Ile) n.775C>T | |
19 | g.38446533del | CA068931 | RYR1 | c.693del (p.Ile232PhefsTer?) n.776del | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446533C>A | CA308114179 | RYR1 | c.693C>A (p.Thr231=) n.776C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446533C= | CA2335027130 | RYR1 | c.693C= (p.Thr231=) n.776C= | |
19 | g.38446533C>G | CA507241484 | RYR1 | c.693C>G (p.Thr231=) n.776C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38446533C>T | CA507241485 | RYR1 | c.693C>T (p.Thr231=) n.776C>T | |
19 | g.38446534A>C | CA405679656 | RYR1 | c.694A>C (p.Ile232Leu) n.777A>C | |
19 | g.38446534A>G | CA405679657 | RYR1 | c.694A>G (p.Ile232Val) n.777A>G | |
19 | g.38446534A>T | CA405679658 | RYR1 | c.694A>T (p.Ile232Phe) n.777A>T | |
19 | g.38446535T>A | CA405679661 | RYR1 | c.695T>A (p.Ile232Asn) n.778T>A | |
19 | g.38446535T>C | CA405679663 | RYR1 | c.695T>C (p.Ile232Thr) n.778T>C | gnomAD v4 |
19 | g.38446535T>G | CA405679664 | RYR1 | c.695T>G (p.Ile232Ser) n.778T>G | |
19 | g.38446535_38446537dup | CA2584893035 | RYR1 | c.695_697dup (p.Ile232_Ser233insPhe) n.778_780dup | gnomAD v4 |
19 | g.38446536T>A | CA507241487 | RYR1 | c.696T>A (p.Ile232=) n.779T>A | |
19 | g.38446536T>C | CA507241488 | RYR1 | c.696T>C (p.Ile232=) n.779T>C | gnomAD v4 |
19 | g.38446536T>G | CA405679666 | RYR1 | c.696T>G (p.Ile232Met) n.779T>G | |
19 | g.38446537T>A | CA405679670 | RYR1 | c.697T>A (p.Ser233Thr) n.780T>A | |
19 | g.38446537T>C | CA405679677 | RYR1 | c.697T>C (p.Ser233Pro) n.780T>C | |
19 | g.38446537T>G | CA405679682 | RYR1 | c.697T>G (p.Ser233Ala) n.780T>G | |
19 | g.38446538C>A | CA405679688 | RYR1 | c.698C>A (p.Ser233Tyr) n.781C>A | |
19 | g.38446538C>G | CA405679689 | RYR1 | c.698C>G (p.Ser233Cys) n.781C>G | |
19 | g.38446538C>T | CA405679699 | RYR1 | c.698C>T (p.Ser233Phe) n.781C>T | COSMIC |
19 | g.38446539C>A | CA507241490 | RYR1 | c.699C>A (p.Ser233=) n.782C>A | |
19 | g.38446539C>G | CA507241492 | RYR1 | c.699C>G (p.Ser233=) n.782C>G | |
19 | g.38446539C>T | CA507241491 | RYR1 | c.699C>T (p.Ser233=) n.782C>T | dbSNP gnomAD v4 COSMIC |
19 | g.38446540C>A | CA405679703 | RYR1 | c.700C>A (p.Pro234Thr) n.783C>A | |
19 | g.38446540C>G | CA405679700 | RYR1 | c.700C>G (p.Pro234Ala) n.783C>G | |
19 | g.38446540C>T | CA405679702 | RYR1 | c.700C>T (p.Pro234Ser) n.783C>T | COSMIC |
19 | g.38446541C>A | CA405679707 | RYR1 | c.701C>A (p.Pro234His) n.784C>A | |
19 | g.38446541C>G | CA405679714 | RYR1 | c.701C>G (p.Pro234Arg) n.784C>G | |
19 | g.38446541C>T | CA405679717 | RYR1 | c.701C>T (p.Pro234Leu) n.784C>T | gnomAD v4 |
19 | g.38446542T>A | CA507241493 | RYR1 | c.702T>A (p.Pro234=) n.785T>A | |
19 | g.38446542T>C | CA507241494 | RYR1 | c.702T>C (p.Pro234=) n.785T>C | |
19 | g.38446542T>G | CA507241495 | RYR1 | c.702T>G (p.Pro234=) n.785T>G | gnomAD v4 |
19 | g.38446543G>A | CA405679721 | RYR1 | c.703G>A (p.Ala235Thr) n.786G>A | |
19 | g.38446543G>C | CA405679723 | RYR1 | c.703G>C (p.Ala235Pro) n.786G>C | |
19 | g.38446543G>T | CA405679726 | RYR1 | c.703G>T (p.Ala235Ser) n.786G>T | |
19 | g.38446544C>A | CA405679731 | RYR1 | c.704C>A (p.Ala235Asp) n.787C>A | |
19 | g.38446544C>G | CA405679734 | RYR1 | c.704C>G (p.Ala235Gly) n.787C>G | |
19 | g.38446544C>T | CA405679739 | RYR1 | c.704C>T (p.Ala235Val) n.787C>T | |
19 | g.38446545T>A | CA507241497 | RYR1 | c.705T>A (p.Ala235=) n.788T>A | gnomAD v4 |
19 | g.38446545T>C | CA507241498 | RYR1 | c.705T>C (p.Ala235=) n.788T>C | |
19 | g.38446545T>G | CA507241499 | RYR1 | c.705T>G (p.Ala235=) n.788T>G | |
19 | g.38446546G>A | CA405679744 | RYR1 | c.706G>A (p.Asp236Asn) n.789G>A | ClinVar gnomAD v4 |
19 | g.38446546G>C | CA405679749 | RYR1 | c.706G>C (p.Asp236His) n.789G>C | |
19 | g.38446546G>T | CA405679750 | RYR1 | c.706G>T (p.Asp236Tyr) n.789G>T | |
19 | g.38446547A= | CA2335027131 | RYR1 | c.707A= (p.Asp236=) n.790A= | |
19 | g.38446547A>C | CA069111 | RYR1 | c.707A>C (p.Asp236Ala) n.790A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446547A>G | CA405679767 | RYR1 | c.707A>G (p.Asp236Gly) n.790A>G | dbSNP gnomAD v4 |
19 | g.38446547A>T | CA405679762 | RYR1 | c.707A>T (p.Asp236Val) n.790A>T | |
19 | g.38446548C>A | CA405679774 | RYR1 | c.708C>A (p.Asp236Glu) n.791C>A | |
19 | g.38446548C>G | CA405679776 | RYR1 | c.708C>G (p.Asp236Glu) n.791C>G | |
19 | g.38446548C>T | CA507241501 | RYR1 | c.708C>T (p.Asp236=) n.791C>T | |
19 | g.38446549A= | CA2335027132 | RYR1 | c.709A= (p.Ser237=) n.792A= | |
19 | g.38446549A>C | CA405679777 | RYR1 | c.709A>C (p.Ser237Arg) n.792A>C | |
19 | g.38446549A>G | CA069139 | RYR1 | c.709A>G (p.Ser237Gly) n.792A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446549A>T | CA405679778 | RYR1 | c.709A>T (p.Ser237Cys) n.792A>T | |
19 | g.38446550G>A | CA405679785 | RYR1 | c.710G>A (p.Ser237Asn) n.793G>A | |
19 | g.38446550G>C | CA405679788 | RYR1 | c.710G>C (p.Ser237Thr) n.793G>C | |
19 | g.38446550G>T | CA405679801 | RYR1 | c.710G>T (p.Ser237Ile) n.793G>T | |
19 | g.38446551T>A | CA405679808 | RYR1 | c.711T>A (p.Ser237Arg) n.794T>A | |
19 | g.38446551T>C | CA507241502 | RYR1 | c.711T>C (p.Ser237=) n.794T>C | gnomAD v4 |
19 | g.38446551T>G | CA405679811 | RYR1 | c.711T>G (p.Ser237Arg) n.794T>G | |
19 | g.38446552G>A | CA069167 | RYR1 | c.712G>A (p.Asp238Asn) n.795G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446552G>C | CA405679819 | RYR1 | c.712G>C (p.Asp238His) n.795G>C | |
19 | g.38446552G= | CA2335027133 | RYR1 | c.712G= (p.Asp238=) n.795G= | |
19 | g.38446552G>T | CA405679820 | RYR1 | c.712G>T (p.Asp238Tyr) n.795G>T | |
19 | g.38446553A= | CA2335027134 | RYR1 | c.713A= (p.Asp238=) n.796A= | |
19 | g.38446553A>C | CA405679833 | RYR1 | c.713A>C (p.Asp238Ala) n.796A>C | |
19 | g.38446553A>G | CA405679823 | RYR1 | c.713A>G (p.Asp238Gly) n.796A>G | ClinVar |
19 | g.38446553A>T | CA405679821 | RYR1 | c.713A>T (p.Asp238Val) n.796A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38446554T>A | CA405679838 | RYR1 | c.714T>A (p.Asp238Glu) n.797T>A | |
19 | g.38446554T>C | CA507241504 | RYR1 | c.714T>C (p.Asp238=) n.797T>C | dbSNP |
19 | g.38446554T>G | CA405679842 | RYR1 | c.714T>G (p.Asp238Glu) n.797T>G | gnomAD v4 |
19 | g.38446554T= | CA2335027135 | RYR1 | c.714T= (p.Asp238=) n.797T= | |
19 | g.38446555G>A | CA405679848 | RYR1 | c.715G>A (p.Asp239Asn) n.798G>A | gnomAD v4 |
19 | g.38446555G>C | CA405679850 | RYR1 | c.715G>C (p.Asp239His) n.798G>C | |
19 | g.38446555G>T | CA405679852 | RYR1 | c.715G>T (p.Asp239Tyr) n.798G>T | gnomAD v4 |
19 | g.38446556A>C | CA405679862 | RYR1 | c.716A>C (p.Asp239Ala) n.799A>C | |
19 | g.38446556A>G | CA405679864 | RYR1 | c.716A>G (p.Asp239Gly) n.799A>G | |
19 | g.38446556A>T | CA405679884 | RYR1 | c.716A>T (p.Asp239Val) n.799A>T | |
19 | g.38446557C>A | CA405679889 | RYR1 | c.717C>A (p.Asp239Glu) n.800C>A | gnomAD v4 |
19 | g.38446557C>G | CA405679895 | RYR1 | c.717C>G (p.Asp239Glu) n.800C>G | |
19 | g.38446557C>T | CA507241506 | RYR1 | c.717C>T (p.Asp239=) n.800C>T | ClinVar |
19 | g.38446558C>A | CA405679897 | RYR1 | c.718C>A (p.Gln240Lys) n.801C>A | |
19 | g.38446558C= | CA2335027136 | RYR1 | c.718C= (p.Gln240=) n.801C= | |
19 | g.38446558C>G | CA405679898 | RYR1 | c.718C>G (p.Gln240Glu) n.801C>G | |
19 | g.38446558C>T | CA405679901 | RYR1 | c.718C>T (p.Gln240Ter) n.801C>T | dbSNP |
19 | g.38446559A>C | CA405679914 | RYR1 | c.719A>C (p.Gln240Pro) n.802A>C | |
19 | g.38446559A>G | CA405679925 | RYR1 | c.719A>G (p.Gln240Arg) n.802A>G | |
19 | g.38446559A>T | CA405679910 | RYR1 | c.719A>T (p.Gln240Leu) n.802A>T | |
19 | g.38446560G>A | CA507241507 | RYR1 | c.720G>A (p.Gln240=) n.803G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38446560G>C | CA405679929 | RYR1 | c.720G>C (p.Gln240His) n.803G>C | |
19 | g.38446560G= | CA2335027137 | RYR1 | c.720G= (p.Gln240=) n.803G= | |
19 | g.38446560G>T | CA405679935 | RYR1 | c.720G>T (p.Gln240His) n.803G>T | |
19 | g.38446561C>A | CA405679954 | RYR1 | c.721C>A (p.Arg241Ser) n.804C>A | |
19 | g.38446561C= | CA2335027138 | RYR1 | c.721C= (p.Arg241=) n.804C= | |
19 | g.38446561C>G | CA405679962 | RYR1 | c.721C>G (p.Arg241Gly) n.804C>G | |
19 | g.38446561C>T | CA069309 | RYR1 | c.721C>T (p.Arg241Cys) n.804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38446562G>A | CA069330 | RYR1 | c.722G>A (p.Arg241His) n.805G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446562G>C | CA405680000 | RYR1 | c.722G>C (p.Arg241Pro) n.805G>C | |
19 | g.38446562G= | CA2335027139 | RYR1 | c.722G= (p.Arg241=) n.805G= | |
19 | g.38446562G>T | CA405680002 | RYR1 | c.722G>T (p.Arg241Leu) n.805G>T | |
19 | g.38446563C>A | CA507241511 | RYR1 | c.723C>A (p.Arg241=) n.806C>A | |
19 | g.38446563C>G | CA507241512 | RYR1 | c.723C>G (p.Arg241=) n.806C>G | |
19 | g.38446563C>T | CA507241513 | RYR1 | c.723C>T (p.Arg241=) n.806C>T | |
19 | g.38446566_38446693del | CA2814333045 | RYR1 | c.725+1_726-1del n.808+1_809-1del | |
19 | g.38446564A>C | CA507241514 | RYR1 | c.724A>C (p.Arg242=) n.807A>C | |
19 | g.38446564A>G | CA405680006 | RYR1 | c.724A>G (p.Arg242Gly) n.807A>G | |
19 | g.38446564A>T | CA405680008 | RYR1 | c.724A>T (p.Arg242Ter) n.807A>T | |
19 | g.38446565G>A | CA405680009 | RYR1 | c.725G>A (p.Arg242Lys) n.808G>A | |
19 | g.38446565G>C | CA405680010 | RYR1 | c.725G>C (p.Arg242Thr) n.808G>C | |
19 | g.38446565G>T | CA405680011 | RYR1 | c.725G>T (p.Arg242Ile) n.808G>T | |
19 | g.38446566G>A | CA405680012 | RYR1 | c.725+1G>A (n.725+1G>A) n.808+1G>A | |
19 | g.38446566G>C | CA405680013 | RYR1 | c.725+1G>C (n.725+1G>C) n.808+1G>C | |
19 | g.38446566G= | CA2335027140 | RYR1 | c.725+1G= (n.725+1G=) n.808+1G= | |
19 | g.38446566G>T | CA308114191 | RYR1 | c.725+1G>T (n.725+1G>T) n.808+1G>T | dbSNP |
19 | g.38446567T>A | CA405680014 | RYR1 | c.725+2T>A (n.725+2T>A) n.808+2T>A | |
19 | g.38446567T>C | CA405680015 | RYR1 | c.725+2T>C (n.725+2T>C) n.808+2T>C | |
19 | g.38446567T>G | CA405680016 | RYR1 | c.725+2T>G (n.725+2T>G) n.808+2T>G | |
19 | g.38446570G>A | CA2739276727 | RYR1 | c.725+5G>A (n.725+5G>A) n.808+5G>A | ClinVar |
19 | g.38446570G>T | CA2584893036 | RYR1 | c.725+5G>T (n.725+5G>T) n.808+5G>T | gnomAD v4 |
19 | g.38446571G>A | CA069403 | RYR1 | c.725+6G>A (n.725+6G>A) n.808+6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446571G= | CA2335027141 | RYR1 | c.725+6G= (n.725+6G=) n.808+6G= | |
19 | g.38446572G= | CA2335027142 | RYR1 | c.725+7G= (n.725+7G=) n.808+7G= | |
19 | g.38446572G>T | CA633065923 | RYR1 | c.725+7G>T (n.725+7G>T) n.808+7G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38446573C>T | CA2584893037 | RYR1 | c.725+8C>T (n.725+8C>T) n.808+8C>T | gnomAD v4 |
19 | g.38446575G>A | CA2584893038 | RYR1 | c.725+10G>A (n.725+10G>A) n.808+10G>A | gnomAD v4 |
19 | g.38446577G>A | CA2576770252 | RYR1 | c.725+12G>A (n.725+12G>A) n.808+12G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38446578G>C | CA2584893039 | RYR1 | c.725+13G>C (n.725+13G>C) n.808+13G>C | gnomAD v4 |
19 | g.38446578G>T | CA2584893040 | RYR1 | c.725+13G>T (n.725+13G>T) n.808+13G>T | gnomAD v4 |
19 | g.38446580C= | CA2335027143 | RYR1 | c.725+15C= (n.725+15C=) n.808+15C= | |
19 | g.38446580C>T | CA069347 | RYR1 | c.725+15C>T (n.725+15C>T) n.808+15C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38446581G>A | CA069350 | RYR1 | c.725+16G>A (n.725+16G>A) n.808+16G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446581G= | CA2335027144 | RYR1 | c.725+16G= (n.725+16G=) n.808+16G= | |
19 | g.38446581G>T | CA069353 | RYR1 | c.725+16G>T (n.725+16G>T) n.808+16G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446582A= | CA2335027145 | RYR1 | c.725+17A= (n.725+17A=) n.808+17A= | |
19 | g.38446582A>C | CA308114214 | RYR1 | c.725+17A>C (n.725+17A>C) n.808+17A>C | ClinVar dbSNP |
19 | g.38446584A>G | CA2584893041 | RYR1 | c.725+19A>G (n.725+19A>G) n.808+19A>G | gnomAD v4 |
19 | g.38446586G>A | CA308114226 | RYR1 | c.725+21G>A (n.725+21G>A) n.808+21G>A | dbSNP |
19 | g.38446586G= | CA2335027146 | RYR1 | c.725+21G= (n.725+21G=) n.808+21G= | |
19 | g.38446586G>T | CA2576770261 | RYR1 | c.725+21G>T (n.725+21G>T) n.808+21G>T | |
19 | g.38446587G>A | CA633065924 | RYR1 | c.725+22G>A (n.725+22G>A) n.808+22G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446587G= | CA2335027147 | RYR1 | c.725+22G= (n.725+22G=) n.808+22G= | |
19 | g.38446588C>A | CA2584893042 | RYR1 | c.725+23C>A (n.725+23C>A) n.808+23C>A | gnomAD v4 |
19 | g.38446588C= | CA2335027148 | RYR1 | c.725+23C= (n.725+23C=) n.808+23C= | |
19 | g.38446588C>G | CA069357 | RYR1 | c.725+23C>G (n.725+23C>G) n.808+23C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38446588C>T | CA069361 | RYR1 | c.725+23C>T (n.725+23C>T) n.808+23C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446589C>T | CA2584893043 | RYR1 | c.725+24C>T (n.725+24C>T) n.808+24C>T | gnomAD v4 |
19 | g.38446594del | CA2576770264 | RYR1 | c.725+29del (n.725+29del) n.808+29del | |
19 | g.38446593G>T | CA2584893044 | RYR1 | c.725+28G>T (n.725+28G>T) n.808+28G>T | gnomAD v4 |
19 | g.38446594G= | CA2335027149 | RYR1 | c.725+29G= (n.725+29G=) n.808+29G= | |
19 | g.38446594G>T | CA882053879 | RYR1 | c.725+29G>T (n.725+29G>T) n.808+29G>T | dbSNP |
19 | g.38446598A= | CA2335027150 | RYR1 | c.725+33A= (n.725+33A=) n.808+33A= | |
19 | g.38446598A>G | CA308114242 | RYR1 | c.725+33A>G (n.725+33A>G) n.808+33A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446599G>C | CA2584893045 | RYR1 | c.725+34G>C (n.725+34G>C) n.808+34G>C | gnomAD v4 |
19 | g.38446599G>T | CA2584893046 | RYR1 | c.725+34G>T (n.725+34G>T) n.808+34G>T | gnomAD v4 |
19 | g.38446601G>A | CA069368 | RYR1 | c.725+36G>A (n.725+36G>A) n.808+36G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446601G= | CA2335027151 | RYR1 | c.725+36G= (n.725+36G=) n.808+36G= | |
19 | g.38446601G>T | CA308114258 | RYR1 | c.725+36G>T (n.725+36G>T) n.808+36G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38446602G>A | CA2335027153 | RYR1 | c.725+37G>A (n.725+37G>A) n.808+37G>A | dbSNP |
19 | g.38446602G= | CA2335027152 | RYR1 | c.725+37G= (n.725+37G=) n.808+37G= | |
19 | g.38446602G>T | CA2584893047 | RYR1 | c.725+37G>T (n.725+37G>T) n.808+37G>T | gnomAD v4 |
19 | g.38446607C>A | CA2584893048 | RYR1 | c.725+42C>A (n.725+42C>A) n.808+42C>A | gnomAD v4 |
19 | g.38446607C= | CA2335027154 | RYR1 | c.725+42C= (n.725+42C=) n.808+42C= | |
19 | g.38446607C>T | CA069390 | RYR1 | c.725+42C>T (n.725+42C>T) n.808+42C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446608G>A | CA069393 | RYR1 | c.725+43G>A (n.725+43G>A) n.808+43G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446608G>C | CA2584893049 | RYR1 | c.725+43G>C (n.725+43G>C) n.808+43G>C | gnomAD v4 |
19 | g.38446608G= | CA2335027155 | RYR1 | c.725+43G= (n.725+43G=) n.808+43G= | |
19 | g.38446609T>C | CA2576770273 | RYR1 | c.725+44T>C (n.725+44T>C) n.808+44T>C |