Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.237784012C>A | CA424032122 | RYR2 | c.*3392C>A (n.*3392C>A) c.12288C>A (p.Val4096=) c.12321C>A (p.Val4107=) c.4477C>A c.12300C>A (p.Val4100=) c.2353C>A c.12252C>A (p.Val4084=) n.3495C>A c.12354C>A (p.Val4118=) c.12351C>A (p.Val4117=) c.12330C>A (p.Val4110=) c.12324C>A (p.Val4108=) c.12318C>A (p.Val4106=) c.12294C>A (p.Val4098=) c.12117C>A (p.Val4039=) c.12261C>A (p.Val4087=) c.12333C>A (p.Val4111=) | |
1 | g.237784012C= | CA2487482354 | RYR2 | c.*3392C= (n.*3392C=) c.12288C= (p.Val4096=) c.12321C= (p.Val4107=) c.4477C= c.12300C= (p.Val4100=) c.2353C= c.12252C= (p.Val4084=) n.3495C= c.12354C= (p.Val4118=) c.12351C= (p.Val4117=) c.12330C= (p.Val4110=) c.12324C= (p.Val4108=) c.12318C= (p.Val4106=) c.12294C= (p.Val4098=) c.12117C= (p.Val4039=) c.12261C= (p.Val4087=) c.12333C= (p.Val4111=) | |
1 | g.237784012C>G | CA085166 | RYR2 | c.*3392C>G (n.*3392C>G) c.12288C>G (p.Val4096=) c.12321C>G (p.Val4107=) c.4477C>G c.12300C>G (p.Val4100=) c.2353C>G c.12252C>G (p.Val4084=) n.3495C>G c.12354C>G (p.Val4118=) c.12351C>G (p.Val4117=) c.12330C>G (p.Val4110=) c.12324C>G (p.Val4108=) c.12318C>G (p.Val4106=) c.12294C>G (p.Val4098=) c.12117C>G (p.Val4039=) c.12261C>G (p.Val4087=) c.12333C>G (p.Val4111=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784012C>T | CA066360 | RYR2 | c.*3392C>T (n.*3392C>T) c.12288C>T (p.Val4096=) c.12321C>T (p.Val4107=) c.4477C>T c.12300C>T (p.Val4100=) c.2353C>T c.12252C>T (p.Val4084=) n.3495C>T c.12354C>T (p.Val4118=) c.12351C>T (p.Val4117=) c.12330C>T (p.Val4110=) c.12324C>T (p.Val4108=) c.12318C>T (p.Val4106=) c.12294C>T (p.Val4098=) c.12117C>T (p.Val4039=) c.12261C>T (p.Val4087=) c.12333C>T (p.Val4111=) | |
1 | g.237784013C>A | CA345412918 | RYR2 | c.*3393C>A (n.*3393C>A) c.12289C>A (p.Leu4097Ile) c.12322C>A (p.Leu4108Ile) c.4478C>A c.12301C>A (p.Leu4101Ile) c.2354C>A c.12253C>A (p.Leu4085Ile) n.3496C>A c.12355C>A (p.Leu4119Ile) c.12352C>A (p.Leu4118Ile) c.12331C>A (p.Leu4111Ile) c.12325C>A (p.Leu4109Ile) c.12319C>A (p.Leu4107Ile) c.12295C>A (p.Leu4099Ile) c.12118C>A (p.Leu4040Ile) c.12262C>A (p.Leu4088Ile) c.12334C>A (p.Leu4112Ile) | gnomAD v4 COSMIC COSMIC |
1 | g.237784013C= | CA2487482355 | RYR2 | c.*3393C= (n.*3393C=) c.12289C= (p.Leu4097=) c.12322C= (p.Leu4108=) c.4478C= c.12301C= (p.Leu4101=) c.2354C= c.12253C= (p.Leu4085=) n.3496C= c.12355C= (p.Leu4119=) c.12352C= (p.Leu4118=) c.12331C= (p.Leu4111=) c.12325C= (p.Leu4109=) c.12319C= (p.Leu4107=) c.12295C= (p.Leu4099=) c.12118C= (p.Leu4040=) c.12262C= (p.Leu4088=) c.12334C= (p.Leu4112=) | |
1 | g.237784013C>G | CA345412919 | RYR2 | c.*3393C>G (n.*3393C>G) c.12289C>G (p.Leu4097Val) c.12322C>G (p.Leu4108Val) c.4478C>G c.12301C>G (p.Leu4101Val) c.2354C>G c.12253C>G (p.Leu4085Val) n.3496C>G c.12355C>G (p.Leu4119Val) c.12352C>G (p.Leu4118Val) c.12331C>G (p.Leu4111Val) c.12325C>G (p.Leu4109Val) c.12319C>G (p.Leu4107Val) c.12295C>G (p.Leu4099Val) c.12118C>G (p.Leu4040Val) c.12262C>G (p.Leu4088Val) c.12334C>G (p.Leu4112Val) | |
1 | g.237784013C>T | CA007454 | RYR2 | c.*3393C>T (n.*3393C>T) c.12289C>T (p.Leu4097Phe) c.12322C>T (p.Leu4108Phe) c.4478C>T c.12301C>T (p.Leu4101Phe) c.2354C>T c.12253C>T (p.Leu4085Phe) n.3496C>T c.12355C>T (p.Leu4119Phe) c.12352C>T (p.Leu4118Phe) c.12331C>T (p.Leu4111Phe) c.12325C>T (p.Leu4109Phe) c.12319C>T (p.Leu4107Phe) c.12295C>T (p.Leu4099Phe) c.12118C>T (p.Leu4040Phe) c.12262C>T (p.Leu4088Phe) c.12334C>T (p.Leu4112Phe) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784014T>A | CA345412920 | RYR2 | c.*3394T>A (n.*3394T>A) c.12290T>A (p.Leu4097His) c.12323T>A (p.Leu4108His) c.4479T>A c.12302T>A (p.Leu4101His) c.2355T>A c.12254T>A (p.Leu4085His) n.3497T>A c.12356T>A (p.Leu4119His) c.12353T>A (p.Leu4118His) c.12332T>A (p.Leu4111His) c.12326T>A (p.Leu4109His) c.12320T>A (p.Leu4107His) c.12296T>A (p.Leu4099His) c.12119T>A (p.Leu4040His) c.12263T>A (p.Leu4088His) c.12335T>A (p.Leu4112His) | |
1 | g.237784014T>C | CA345412921 | RYR2 | c.*3394T>C (n.*3394T>C) c.12290T>C (p.Leu4097Pro) c.12323T>C (p.Leu4108Pro) c.4479T>C c.12302T>C (p.Leu4101Pro) c.2355T>C c.12254T>C (p.Leu4085Pro) n.3497T>C c.12356T>C (p.Leu4119Pro) c.12353T>C (p.Leu4118Pro) c.12332T>C (p.Leu4111Pro) c.12326T>C (p.Leu4109Pro) c.12320T>C (p.Leu4107Pro) c.12296T>C (p.Leu4099Pro) c.12119T>C (p.Leu4040Pro) c.12263T>C (p.Leu4088Pro) c.12335T>C (p.Leu4112Pro) | |
1 | g.237784014T>G | CA345412922 | RYR2 | c.*3394T>G (n.*3394T>G) c.12290T>G (p.Leu4097Arg) c.12323T>G (p.Leu4108Arg) c.4479T>G c.12302T>G (p.Leu4101Arg) c.2355T>G c.12254T>G (p.Leu4085Arg) n.3497T>G c.12356T>G (p.Leu4119Arg) c.12353T>G (p.Leu4118Arg) c.12332T>G (p.Leu4111Arg) c.12326T>G (p.Leu4109Arg) c.12320T>G (p.Leu4107Arg) c.12296T>G (p.Leu4099Arg) c.12119T>G (p.Leu4040Arg) c.12263T>G (p.Leu4088Arg) c.12335T>G (p.Leu4112Arg) | gnomAD v4 |
1 | g.237784015T>A | CA424032126 | RYR2 | c.*3395T>A (n.*3395T>A) c.12291T>A (p.Leu4097=) c.12324T>A (p.Leu4108=) c.4480T>A c.12303T>A (p.Leu4101=) c.2356T>A c.12255T>A (p.Leu4085=) n.3498T>A c.12357T>A (p.Leu4119=) c.12354T>A (p.Leu4118=) c.12333T>A (p.Leu4111=) c.12327T>A (p.Leu4109=) c.12321T>A (p.Leu4107=) c.12297T>A (p.Leu4099=) c.12120T>A (p.Leu4040=) c.12264T>A (p.Leu4088=) c.12336T>A (p.Leu4112=) | |
1 | g.237784015T>C | CA424032127 | RYR2 | c.*3395T>C (n.*3395T>C) c.12291T>C (p.Leu4097=) c.12324T>C (p.Leu4108=) c.4480T>C c.12303T>C (p.Leu4101=) c.2356T>C c.12255T>C (p.Leu4085=) n.3498T>C c.12357T>C (p.Leu4119=) c.12354T>C (p.Leu4118=) c.12333T>C (p.Leu4111=) c.12327T>C (p.Leu4109=) c.12321T>C (p.Leu4107=) c.12297T>C (p.Leu4099=) c.12120T>C (p.Leu4040=) c.12264T>C (p.Leu4088=) c.12336T>C (p.Leu4112=) | gnomAD v4 |
1 | g.237784015T>G | CA424032128 | RYR2 | c.*3395T>G (n.*3395T>G) c.12291T>G (p.Leu4097=) c.12324T>G (p.Leu4108=) c.4480T>G c.12303T>G (p.Leu4101=) c.2356T>G c.12255T>G (p.Leu4085=) n.3498T>G c.12357T>G (p.Leu4119=) c.12354T>G (p.Leu4118=) c.12333T>G (p.Leu4111=) c.12327T>G (p.Leu4109=) c.12321T>G (p.Leu4107=) c.12297T>G (p.Leu4099=) c.12120T>G (p.Leu4040=) c.12264T>G (p.Leu4088=) c.12336T>G (p.Leu4112=) | |
1 | g.237784016C>A | CA345412923 | RYR2 | c.*3396C>A (n.*3396C>A) c.12292C>A (p.Leu4098Met) c.12325C>A (p.Leu4109Met) c.4481C>A c.12304C>A (p.Leu4102Met) c.2357C>A c.12256C>A (p.Leu4086Met) n.3499C>A c.12358C>A (p.Leu4120Met) c.12355C>A (p.Leu4119Met) c.12334C>A (p.Leu4112Met) c.12328C>A (p.Leu4110Met) c.12322C>A (p.Leu4108Met) c.12298C>A (p.Leu4100Met) c.12121C>A (p.Leu4041Met) c.12265C>A (p.Leu4089Met) c.12337C>A (p.Leu4113Met) | |
1 | g.237784016C>G | CA345412924 | RYR2 | c.*3396C>G (n.*3396C>G) c.12292C>G (p.Leu4098Val) c.12325C>G (p.Leu4109Val) c.4481C>G c.12304C>G (p.Leu4102Val) c.2357C>G c.12256C>G (p.Leu4086Val) n.3499C>G c.12358C>G (p.Leu4120Val) c.12355C>G (p.Leu4119Val) c.12334C>G (p.Leu4112Val) c.12328C>G (p.Leu4110Val) c.12322C>G (p.Leu4108Val) c.12298C>G (p.Leu4100Val) c.12121C>G (p.Leu4041Val) c.12265C>G (p.Leu4089Val) c.12337C>G (p.Leu4113Val) | |
1 | g.237784016C>T | CA424032130 | RYR2 | c.*3396C>T (n.*3396C>T) c.12292C>T (p.Leu4098=) c.12325C>T (p.Leu4109=) c.4481C>T c.12304C>T (p.Leu4102=) c.2357C>T c.12256C>T (p.Leu4086=) n.3499C>T c.12358C>T (p.Leu4120=) c.12355C>T (p.Leu4119=) c.12334C>T (p.Leu4112=) c.12328C>T (p.Leu4110=) c.12322C>T (p.Leu4108=) c.12298C>T (p.Leu4100=) c.12121C>T (p.Leu4041=) c.12265C>T (p.Leu4089=) c.12337C>T (p.Leu4113=) | |
1 | g.237784017T>A | CA345412925 | RYR2 | c.*3397T>A (n.*3397T>A) c.12293T>A (p.Leu4098Gln) c.12326T>A (p.Leu4109Gln) c.4482T>A c.12305T>A (p.Leu4102Gln) c.2358T>A c.12257T>A (p.Leu4086Gln) n.3500T>A c.12359T>A (p.Leu4120Gln) c.12356T>A (p.Leu4119Gln) c.12335T>A (p.Leu4112Gln) c.12329T>A (p.Leu4110Gln) c.12323T>A (p.Leu4108Gln) c.12299T>A (p.Leu4100Gln) c.12122T>A (p.Leu4041Gln) c.12266T>A (p.Leu4089Gln) c.12338T>A (p.Leu4113Gln) | |
1 | g.237784017T>C | CA345412926 | RYR2 | c.*3397T>C (n.*3397T>C) c.12293T>C (p.Leu4098Pro) c.12326T>C (p.Leu4109Pro) c.4482T>C c.12305T>C (p.Leu4102Pro) c.2358T>C c.12257T>C (p.Leu4086Pro) n.3500T>C c.12359T>C (p.Leu4120Pro) c.12356T>C (p.Leu4119Pro) c.12335T>C (p.Leu4112Pro) c.12329T>C (p.Leu4110Pro) c.12323T>C (p.Leu4108Pro) c.12299T>C (p.Leu4100Pro) c.12122T>C (p.Leu4041Pro) c.12266T>C (p.Leu4089Pro) c.12338T>C (p.Leu4113Pro) | |
1 | g.237784017T>G | CA345412927 | RYR2 | c.*3397T>G (n.*3397T>G) c.12293T>G (p.Leu4098Arg) c.12326T>G (p.Leu4109Arg) c.4482T>G c.12305T>G (p.Leu4102Arg) c.2358T>G c.12257T>G (p.Leu4086Arg) n.3500T>G c.12359T>G (p.Leu4120Arg) c.12356T>G (p.Leu4119Arg) c.12335T>G (p.Leu4112Arg) c.12329T>G (p.Leu4110Arg) c.12323T>G (p.Leu4108Arg) c.12299T>G (p.Leu4100Arg) c.12122T>G (p.Leu4041Arg) c.12266T>G (p.Leu4089Arg) c.12338T>G (p.Leu4113Arg) | |
1 | g.237784018G>A | CA424032134 | RYR2 | c.*3398G>A (n.*3398G>A) c.12294G>A (p.Leu4098=) c.12327G>A (p.Leu4109=) c.4483G>A c.12306G>A (p.Leu4102=) c.2359G>A c.12258G>A (p.Leu4086=) n.3501G>A c.12360G>A (p.Leu4120=) c.12357G>A (p.Leu4119=) c.12336G>A (p.Leu4112=) c.12330G>A (p.Leu4110=) c.12324G>A (p.Leu4108=) c.12300G>A (p.Leu4100=) c.12123G>A (p.Leu4041=) c.12267G>A (p.Leu4089=) c.12339G>A (p.Leu4113=) | |
1 | g.237784018G>C | CA424032135 | RYR2 | c.*3398G>C (n.*3398G>C) c.12294G>C (p.Leu4098=) c.12327G>C (p.Leu4109=) c.4483G>C c.12306G>C (p.Leu4102=) c.2359G>C c.12258G>C (p.Leu4086=) n.3501G>C c.12360G>C (p.Leu4120=) c.12357G>C (p.Leu4119=) c.12336G>C (p.Leu4112=) c.12330G>C (p.Leu4110=) c.12324G>C (p.Leu4108=) c.12300G>C (p.Leu4100=) c.12123G>C (p.Leu4041=) c.12267G>C (p.Leu4089=) c.12339G>C (p.Leu4113=) | |
1 | g.237784018G>T | CA424032136 | RYR2 | c.*3398G>T (n.*3398G>T) c.12294G>T (p.Leu4098=) c.12327G>T (p.Leu4109=) c.4483G>T c.12306G>T (p.Leu4102=) c.2359G>T c.12258G>T (p.Leu4086=) n.3501G>T c.12360G>T (p.Leu4120=) c.12357G>T (p.Leu4119=) c.12336G>T (p.Leu4112=) c.12330G>T (p.Leu4110=) c.12324G>T (p.Leu4108=) c.12300G>T (p.Leu4100=) c.12123G>T (p.Leu4041=) c.12267G>T (p.Leu4089=) c.12339G>T (p.Leu4113=) | |
1 | g.237784019A>C | CA345412928 | RYR2 | c.*3399A>C (n.*3399A>C) c.12295A>C (p.Thr4099Pro) c.12328A>C (p.Thr4110Pro) c.4484A>C c.12307A>C (p.Thr4103Pro) c.2360A>C c.12259A>C (p.Thr4087Pro) n.3502A>C c.12361A>C (p.Thr4121Pro) c.12358A>C (p.Thr4120Pro) c.12337A>C (p.Thr4113Pro) c.12331A>C (p.Thr4111Pro) c.12325A>C (p.Thr4109Pro) c.12301A>C (p.Thr4101Pro) c.12124A>C (p.Thr4042Pro) c.12268A>C (p.Thr4090Pro) c.12340A>C (p.Thr4114Pro) | |
1 | g.237784019A>G | CA345412929 | RYR2 | c.*3399A>G (n.*3399A>G) c.12295A>G (p.Thr4099Ala) c.12328A>G (p.Thr4110Ala) c.4484A>G c.12307A>G (p.Thr4103Ala) c.2360A>G c.12259A>G (p.Thr4087Ala) n.3502A>G c.12361A>G (p.Thr4121Ala) c.12358A>G (p.Thr4120Ala) c.12337A>G (p.Thr4113Ala) c.12331A>G (p.Thr4111Ala) c.12325A>G (p.Thr4109Ala) c.12301A>G (p.Thr4101Ala) c.12124A>G (p.Thr4042Ala) c.12268A>G (p.Thr4090Ala) c.12340A>G (p.Thr4114Ala) | |
1 | g.237784019A>T | CA345412930 | RYR2 | c.*3399A>T (n.*3399A>T) c.12295A>T (p.Thr4099Ser) c.12328A>T (p.Thr4110Ser) c.4484A>T c.12307A>T (p.Thr4103Ser) c.2360A>T c.12259A>T (p.Thr4087Ser) n.3502A>T c.12361A>T (p.Thr4121Ser) c.12358A>T (p.Thr4120Ser) c.12337A>T (p.Thr4113Ser) c.12331A>T (p.Thr4111Ser) c.12325A>T (p.Thr4109Ser) c.12301A>T (p.Thr4101Ser) c.12124A>T (p.Thr4042Ser) c.12268A>T (p.Thr4090Ser) c.12340A>T (p.Thr4114Ser) | |
1 | g.237784020C>A | CA345412931 | RYR2 | c.*3400C>A (n.*3400C>A) c.12296C>A (p.Thr4099Lys) c.12329C>A (p.Thr4110Lys) c.4485C>A c.12308C>A (p.Thr4103Lys) c.2361C>A c.12260C>A (p.Thr4087Lys) n.3503C>A c.12362C>A (p.Thr4121Lys) c.12359C>A (p.Thr4120Lys) c.12338C>A (p.Thr4113Lys) c.12332C>A (p.Thr4111Lys) c.12326C>A (p.Thr4109Lys) c.12302C>A (p.Thr4101Lys) c.12125C>A (p.Thr4042Lys) c.12269C>A (p.Thr4090Lys) c.12341C>A (p.Thr4114Lys) | |
1 | g.237784020C= | CA2487482356 | RYR2 | c.*3400C= (n.*3400C=) c.12296C= (p.Thr4099=) c.12329C= (p.Thr4110=) c.4485C= c.12308C= (p.Thr4103=) c.2361C= c.12260C= (p.Thr4087=) n.3503C= c.12362C= (p.Thr4121=) c.12359C= (p.Thr4120=) c.12338C= (p.Thr4113=) c.12332C= (p.Thr4111=) c.12326C= (p.Thr4109=) c.12302C= (p.Thr4101=) c.12125C= (p.Thr4042=) c.12269C= (p.Thr4090=) c.12341C= (p.Thr4114=) | |
1 | g.237784020C>G | CA345412932 | RYR2 | c.*3400C>G (n.*3400C>G) c.12296C>G (p.Thr4099Arg) c.12329C>G (p.Thr4110Arg) c.4485C>G c.12308C>G (p.Thr4103Arg) c.2361C>G c.12260C>G (p.Thr4087Arg) n.3503C>G c.12362C>G (p.Thr4121Arg) c.12359C>G (p.Thr4120Arg) c.12338C>G (p.Thr4113Arg) c.12332C>G (p.Thr4111Arg) c.12326C>G (p.Thr4109Arg) c.12302C>G (p.Thr4101Arg) c.12125C>G (p.Thr4042Arg) c.12269C>G (p.Thr4090Arg) c.12341C>G (p.Thr4114Arg) | dbSNP gnomAD v2 |
1 | g.237784020C>T | CA345412933 | RYR2 | c.*3400C>T (n.*3400C>T) c.12296C>T (p.Thr4099Ile) c.12329C>T (p.Thr4110Ile) c.4485C>T c.12308C>T (p.Thr4103Ile) c.2361C>T c.12260C>T (p.Thr4087Ile) n.3503C>T c.12362C>T (p.Thr4121Ile) c.12359C>T (p.Thr4120Ile) c.12338C>T (p.Thr4113Ile) c.12332C>T (p.Thr4111Ile) c.12326C>T (p.Thr4109Ile) c.12302C>T (p.Thr4101Ile) c.12125C>T (p.Thr4042Ile) c.12269C>T (p.Thr4090Ile) c.12341C>T (p.Thr4114Ile) | |
1 | g.237784021A>C | CA424032138 | RYR2 | c.*3401A>C (n.*3401A>C) c.12297A>C (p.Thr4099=) c.12330A>C (p.Thr4110=) c.4486A>C c.12309A>C (p.Thr4103=) c.2362A>C c.12261A>C (p.Thr4087=) n.3504A>C c.12363A>C (p.Thr4121=) c.12360A>C (p.Thr4120=) c.12339A>C (p.Thr4113=) c.12333A>C (p.Thr4111=) c.12327A>C (p.Thr4109=) c.12303A>C (p.Thr4101=) c.12126A>C (p.Thr4042=) c.12270A>C (p.Thr4090=) c.12342A>C (p.Thr4114=) | |
1 | g.237784021A>G | CA066373 | RYR2 | c.*3401A>G (n.*3401A>G) c.12297A>G (p.Thr4099=) c.12330A>G (p.Thr4110=) c.4486A>G c.12309A>G (p.Thr4103=) c.2362A>G c.12261A>G (p.Thr4087=) n.3504A>G c.12363A>G (p.Thr4121=) c.12360A>G (p.Thr4120=) c.12339A>G (p.Thr4113=) c.12333A>G (p.Thr4111=) c.12327A>G (p.Thr4109=) c.12303A>G (p.Thr4101=) c.12126A>G (p.Thr4042=) c.12270A>G (p.Thr4090=) c.12342A>G (p.Thr4114=) | |
1 | g.237784021A>T | CA424032140 | RYR2 | c.*3401A>T (n.*3401A>T) c.12297A>T (p.Thr4099=) c.12330A>T (p.Thr4110=) c.4486A>T c.12309A>T (p.Thr4103=) c.2362A>T c.12261A>T (p.Thr4087=) n.3504A>T c.12363A>T (p.Thr4121=) c.12360A>T (p.Thr4120=) c.12339A>T (p.Thr4113=) c.12333A>T (p.Thr4111=) c.12327A>T (p.Thr4109=) c.12303A>T (p.Thr4101=) c.12126A>T (p.Thr4042=) c.12270A>T (p.Thr4090=) c.12342A>T (p.Thr4114=) | |
1 | g.237784022A>C | CA345412934 | RYR2 | c.*3402A>C (n.*3402A>C) c.12298A>C (p.Asn4100His) c.12331A>C (p.Asn4111His) c.4487A>C c.12310A>C (p.Asn4104His) c.2363A>C c.12262A>C (p.Asn4088His) n.3505A>C c.12364A>C (p.Asn4122His) c.12361A>C (p.Asn4121His) c.12340A>C (p.Asn4114His) c.12334A>C (p.Asn4112His) c.12328A>C (p.Asn4110His) c.12304A>C (p.Asn4102His) c.12127A>C (p.Asn4043His) c.12271A>C (p.Asn4091His) c.12343A>C (p.Asn4115His) | |
1 | g.237784022A>G | CA345412935 | RYR2 | c.*3402A>G (n.*3402A>G) c.12298A>G (p.Asn4100Asp) c.12331A>G (p.Asn4111Asp) c.4487A>G c.12310A>G (p.Asn4104Asp) c.2363A>G c.12262A>G (p.Asn4088Asp) n.3505A>G c.12364A>G (p.Asn4122Asp) c.12361A>G (p.Asn4121Asp) c.12340A>G (p.Asn4114Asp) c.12334A>G (p.Asn4112Asp) c.12328A>G (p.Asn4110Asp) c.12304A>G (p.Asn4102Asp) c.12127A>G (p.Asn4043Asp) c.12271A>G (p.Asn4091Asp) c.12343A>G (p.Asn4115Asp) | |
1 | g.237784022A>T | CA345412936 | RYR2 | c.*3402A>T (n.*3402A>T) c.12298A>T (p.Asn4100Tyr) c.12331A>T (p.Asn4111Tyr) c.4487A>T c.12310A>T (p.Asn4104Tyr) c.2363A>T c.12262A>T (p.Asn4088Tyr) n.3505A>T c.12364A>T (p.Asn4122Tyr) c.12361A>T (p.Asn4121Tyr) c.12340A>T (p.Asn4114Tyr) c.12334A>T (p.Asn4112Tyr) c.12328A>T (p.Asn4110Tyr) c.12304A>T (p.Asn4102Tyr) c.12127A>T (p.Asn4043Tyr) c.12271A>T (p.Asn4091Tyr) c.12343A>T (p.Asn4115Tyr) | |
1 | g.237784023A= | CA2487482357 | RYR2 | c.*3403A= (n.*3403A=) c.12299A= (p.Asn4100=) c.12332A= (p.Asn4111=) c.4488A= c.12311A= (p.Asn4104=) c.2364A= c.12263A= (p.Asn4088=) n.3506A= c.12365A= (p.Asn4122=) c.12362A= (p.Asn4121=) c.12341A= (p.Asn4114=) c.12335A= (p.Asn4112=) c.12329A= (p.Asn4110=) c.12305A= (p.Asn4102=) c.12128A= (p.Asn4043=) c.12272A= (p.Asn4091=) c.12344A= (p.Asn4115=) | |
1 | g.237784023A>C | CA345412939 | RYR2 | c.*3403A>C (n.*3403A>C) c.12299A>C (p.Asn4100Thr) c.12332A>C (p.Asn4111Thr) c.4488A>C c.12311A>C (p.Asn4104Thr) c.2364A>C c.12263A>C (p.Asn4088Thr) n.3506A>C c.12365A>C (p.Asn4122Thr) c.12362A>C (p.Asn4121Thr) c.12341A>C (p.Asn4114Thr) c.12335A>C (p.Asn4112Thr) c.12329A>C (p.Asn4110Thr) c.12305A>C (p.Asn4102Thr) c.12128A>C (p.Asn4043Thr) c.12272A>C (p.Asn4091Thr) c.12344A>C (p.Asn4115Thr) | |
1 | g.237784023A>G | CA345412938 | RYR2 | c.*3403A>G (n.*3403A>G) c.12299A>G (p.Asn4100Ser) c.12332A>G (p.Asn4111Ser) c.4488A>G c.12311A>G (p.Asn4104Ser) c.2364A>G c.12263A>G (p.Asn4088Ser) n.3506A>G c.12365A>G (p.Asn4122Ser) c.12362A>G (p.Asn4121Ser) c.12341A>G (p.Asn4114Ser) c.12335A>G (p.Asn4112Ser) c.12329A>G (p.Asn4110Ser) c.12305A>G (p.Asn4102Ser) c.12128A>G (p.Asn4043Ser) c.12272A>G (p.Asn4091Ser) c.12344A>G (p.Asn4115Ser) | |
1 | g.237784023A>T | CA345412937 | RYR2 | c.*3403A>T (n.*3403A>T) c.12299A>T (p.Asn4100Ile) c.12332A>T (p.Asn4111Ile) c.4488A>T c.12311A>T (p.Asn4104Ile) c.2364A>T c.12263A>T (p.Asn4088Ile) n.3506A>T c.12365A>T (p.Asn4122Ile) c.12362A>T (p.Asn4121Ile) c.12341A>T (p.Asn4114Ile) c.12335A>T (p.Asn4112Ile) c.12329A>T (p.Asn4110Ile) c.12305A>T (p.Asn4102Ile) c.12128A>T (p.Asn4043Ile) c.12272A>T (p.Asn4091Ile) c.12344A>T (p.Asn4115Ile) | dbSNP |
1 | g.237784024C>A | CA345412940 | RYR2 | c.*3404C>A (n.*3404C>A) c.12300C>A (p.Asn4100Lys) c.12333C>A (p.Asn4111Lys) c.4489C>A c.12312C>A (p.Asn4104Lys) c.2365C>A c.12264C>A (p.Asn4088Lys) n.3507C>A c.12366C>A (p.Asn4122Lys) c.12363C>A (p.Asn4121Lys) c.12342C>A (p.Asn4114Lys) c.12336C>A (p.Asn4112Lys) c.12330C>A (p.Asn4110Lys) c.12306C>A (p.Asn4102Lys) c.12129C>A (p.Asn4043Lys) c.12273C>A (p.Asn4091Lys) c.12345C>A (p.Asn4115Lys) | |
1 | g.237784024C= | CA1141581350 | RYR2 | c.*3404C= (n.*3404C=) c.12300C= (p.Asn4100=) c.12333C= (p.Asn4111=) c.4489C= c.12312C= (p.Asn4104=) c.2365C= c.12264C= (p.Asn4088=) n.3507C= c.12366C= (p.Asn4122=) c.12363C= (p.Asn4121=) c.12342C= (p.Asn4114=) c.12336C= (p.Asn4112=) c.12330C= (p.Asn4110=) c.12306C= (p.Asn4102=) c.12129C= (p.Asn4043=) c.12273C= (p.Asn4091=) c.12345C= (p.Asn4115=) | |
1 | g.237784024C>G | CA007463 | RYR2 | c.*3404C>G (n.*3404C>G) c.12300C>G (p.Asn4100Lys) c.12333C>G (p.Asn4111Lys) c.4489C>G c.12312C>G (p.Asn4104Lys) c.2365C>G c.12264C>G (p.Asn4088Lys) n.3507C>G c.12366C>G (p.Asn4122Lys) c.12363C>G (p.Asn4121Lys) c.12342C>G (p.Asn4114Lys) c.12336C>G (p.Asn4112Lys) c.12330C>G (p.Asn4110Lys) c.12306C>G (p.Asn4102Lys) c.12129C>G (p.Asn4043Lys) c.12273C>G (p.Asn4091Lys) c.12345C>G (p.Asn4115Lys) | ClinVar dbSNP |
1 | g.237784024C>T | CA424032143 | RYR2 | c.*3404C>T (n.*3404C>T) c.12300C>T (p.Asn4100=) c.12333C>T (p.Asn4111=) c.4489C>T c.12312C>T (p.Asn4104=) c.2365C>T c.12264C>T (p.Asn4088=) n.3507C>T c.12366C>T (p.Asn4122=) c.12363C>T (p.Asn4121=) c.12342C>T (p.Asn4114=) c.12336C>T (p.Asn4112=) c.12330C>T (p.Asn4110=) c.12306C>T (p.Asn4102=) c.12129C>T (p.Asn4043=) c.12273C>T (p.Asn4091=) c.12345C>T (p.Asn4115=) | |
1 | g.237784025C>A | CA345412941 | RYR2 | c.*3405C>A (n.*3405C>A) c.12301C>A (p.Leu4101Ile) c.12334C>A (p.Leu4112Ile) c.4490C>A c.12313C>A (p.Leu4105Ile) c.2366C>A c.12265C>A (p.Leu4089Ile) n.3508C>A c.12367C>A (p.Leu4123Ile) c.12364C>A (p.Leu4122Ile) c.12343C>A (p.Leu4115Ile) c.12337C>A (p.Leu4113Ile) c.12331C>A (p.Leu4111Ile) c.12307C>A (p.Leu4103Ile) c.12130C>A (p.Leu4044Ile) c.12274C>A (p.Leu4092Ile) c.12346C>A (p.Leu4116Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784025C= | CA2487482358 | RYR2 | c.*3405C= (n.*3405C=) c.12301C= (p.Leu4101=) c.12334C= (p.Leu4112=) c.4490C= c.12313C= (p.Leu4105=) c.2366C= c.12265C= (p.Leu4089=) n.3508C= c.12367C= (p.Leu4123=) c.12364C= (p.Leu4122=) c.12343C= (p.Leu4115=) c.12337C= (p.Leu4113=) c.12331C= (p.Leu4111=) c.12307C= (p.Leu4103=) c.12130C= (p.Leu4044=) c.12274C= (p.Leu4092=) c.12346C= (p.Leu4116=) | |
1 | g.237784025C>G | CA345412942 | RYR2 | c.*3405C>G (n.*3405C>G) c.12301C>G (p.Leu4101Val) c.12334C>G (p.Leu4112Val) c.4490C>G c.12313C>G (p.Leu4105Val) c.2366C>G c.12265C>G (p.Leu4089Val) n.3508C>G c.12367C>G (p.Leu4123Val) c.12364C>G (p.Leu4122Val) c.12343C>G (p.Leu4115Val) c.12337C>G (p.Leu4113Val) c.12331C>G (p.Leu4111Val) c.12307C>G (p.Leu4103Val) c.12130C>G (p.Leu4044Val) c.12274C>G (p.Leu4092Val) c.12346C>G (p.Leu4116Val) | |
1 | g.237784025C>T | CA345412943 | RYR2 | c.*3405C>T (n.*3405C>T) c.12301C>T (p.Leu4101Phe) c.12334C>T (p.Leu4112Phe) c.4490C>T c.12313C>T (p.Leu4105Phe) c.2366C>T c.12265C>T (p.Leu4089Phe) n.3508C>T c.12367C>T (p.Leu4123Phe) c.12364C>T (p.Leu4122Phe) c.12343C>T (p.Leu4115Phe) c.12337C>T (p.Leu4113Phe) c.12331C>T (p.Leu4111Phe) c.12307C>T (p.Leu4103Phe) c.12130C>T (p.Leu4044Phe) c.12274C>T (p.Leu4092Phe) c.12346C>T (p.Leu4116Phe) | ClinVar dbSNP |
1 | g.237784026T>A | CA345412944 | RYR2 | c.*3406T>A (n.*3406T>A) c.12302T>A (p.Leu4101His) c.12335T>A (p.Leu4112His) c.4491T>A c.12314T>A (p.Leu4105His) c.2367T>A c.12266T>A (p.Leu4089His) n.3509T>A c.12368T>A (p.Leu4123His) c.12365T>A (p.Leu4122His) c.12344T>A (p.Leu4115His) c.12338T>A (p.Leu4113His) c.12332T>A (p.Leu4111His) c.12308T>A (p.Leu4103His) c.12131T>A (p.Leu4044His) c.12275T>A (p.Leu4092His) c.12347T>A (p.Leu4116His) | |
1 | g.237784026T>C | CA345412945 | RYR2 | c.*3406T>C (n.*3406T>C) c.12302T>C (p.Leu4101Pro) c.12335T>C (p.Leu4112Pro) c.4491T>C c.12314T>C (p.Leu4105Pro) c.2367T>C c.12266T>C (p.Leu4089Pro) n.3509T>C c.12368T>C (p.Leu4123Pro) c.12365T>C (p.Leu4122Pro) c.12344T>C (p.Leu4115Pro) c.12338T>C (p.Leu4113Pro) c.12332T>C (p.Leu4111Pro) c.12308T>C (p.Leu4103Pro) c.12131T>C (p.Leu4044Pro) c.12275T>C (p.Leu4092Pro) c.12347T>C (p.Leu4116Pro) | |
1 | g.237784026T>G | CA345412946 | RYR2 | c.*3406T>G (n.*3406T>G) c.12302T>G (p.Leu4101Arg) c.12335T>G (p.Leu4112Arg) c.4491T>G c.12314T>G (p.Leu4105Arg) c.2367T>G c.12266T>G (p.Leu4089Arg) n.3509T>G c.12368T>G (p.Leu4123Arg) c.12365T>G (p.Leu4122Arg) c.12344T>G (p.Leu4115Arg) c.12338T>G (p.Leu4113Arg) c.12332T>G (p.Leu4111Arg) c.12308T>G (p.Leu4103Arg) c.12131T>G (p.Leu4044Arg) c.12275T>G (p.Leu4092Arg) c.12347T>G (p.Leu4116Arg) | |
1 | g.237784027C>A | CA066379 | RYR2 | c.*3407C>A (n.*3407C>A) c.12303C>A (p.Leu4101=) c.12336C>A (p.Leu4112=) c.4492C>A c.12315C>A (p.Leu4105=) c.2368C>A c.12267C>A (p.Leu4089=) n.3510C>A c.12369C>A (p.Leu4123=) c.12366C>A (p.Leu4122=) c.12345C>A (p.Leu4115=) c.12339C>A (p.Leu4113=) c.12333C>A (p.Leu4111=) c.12309C>A (p.Leu4103=) c.12132C>A (p.Leu4044=) c.12276C>A (p.Leu4092=) c.12348C>A (p.Leu4116=) | COSMIC COSMIC |
1 | g.237784027C= | CA1142714231 | RYR2 | c.*3407C= (n.*3407C=) c.12303C= (p.Leu4101=) c.12336C= (p.Leu4112=) c.4492C= c.12315C= (p.Leu4105=) c.2368C= c.12267C= (p.Leu4089=) n.3510C= c.12369C= (p.Leu4123=) c.12366C= (p.Leu4122=) c.12345C= (p.Leu4115=) c.12339C= (p.Leu4113=) c.12333C= (p.Leu4111=) c.12309C= (p.Leu4103=) c.12132C= (p.Leu4044=) c.12276C= (p.Leu4092=) c.12348C= (p.Leu4116=) | |
1 | g.237784027C>G | CA424032148 | RYR2 | c.*3407C>G (n.*3407C>G) c.12303C>G (p.Leu4101=) c.12336C>G (p.Leu4112=) c.4492C>G c.12315C>G (p.Leu4105=) c.2368C>G c.12267C>G (p.Leu4089=) n.3510C>G c.12369C>G (p.Leu4123=) c.12366C>G (p.Leu4122=) c.12345C>G (p.Leu4115=) c.12339C>G (p.Leu4113=) c.12333C>G (p.Leu4111=) c.12309C>G (p.Leu4103=) c.12132C>G (p.Leu4044=) c.12276C>G (p.Leu4092=) c.12348C>G (p.Leu4116=) | |
1 | g.237784027C>T | CA066382 | RYR2 | c.*3407C>T (n.*3407C>T) c.12303C>T (p.Leu4101=) c.12336C>T (p.Leu4112=) c.4492C>T c.12315C>T (p.Leu4105=) c.2368C>T c.12267C>T (p.Leu4089=) n.3510C>T c.12369C>T (p.Leu4123=) c.12366C>T (p.Leu4122=) c.12345C>T (p.Leu4115=) c.12339C>T (p.Leu4113=) c.12333C>T (p.Leu4111=) c.12309C>T (p.Leu4103=) c.12132C>T (p.Leu4044=) c.12276C>T (p.Leu4092=) c.12348C>T (p.Leu4116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784028T>A | CA345412947 | RYR2 | c.*3408T>A (n.*3408T>A) c.12304T>A (p.Ser4102Thr) c.12337T>A (p.Ser4113Thr) c.4493T>A c.12316T>A (p.Ser4106Thr) c.2369T>A c.12268T>A (p.Ser4090Thr) n.3511T>A c.12370T>A (p.Ser4124Thr) c.12367T>A (p.Ser4123Thr) c.12346T>A (p.Ser4116Thr) c.12340T>A (p.Ser4114Thr) c.12334T>A (p.Ser4112Thr) c.12310T>A (p.Ser4104Thr) c.12133T>A (p.Ser4045Thr) c.12277T>A (p.Ser4093Thr) c.12349T>A (p.Ser4117Thr) | |
1 | g.237784028T>C | CA345412948 | RYR2 | c.*3408T>C (n.*3408T>C) c.12304T>C (p.Ser4102Pro) c.12337T>C (p.Ser4113Pro) c.4493T>C c.12316T>C (p.Ser4106Pro) c.2369T>C c.12268T>C (p.Ser4090Pro) n.3511T>C c.12370T>C (p.Ser4124Pro) c.12367T>C (p.Ser4123Pro) c.12346T>C (p.Ser4116Pro) c.12340T>C (p.Ser4114Pro) c.12334T>C (p.Ser4112Pro) c.12310T>C (p.Ser4104Pro) c.12133T>C (p.Ser4045Pro) c.12277T>C (p.Ser4093Pro) c.12349T>C (p.Ser4117Pro) | gnomAD v4 |
1 | g.237784028T>G | CA345412949 | RYR2 | c.*3408T>G (n.*3408T>G) c.12304T>G (p.Ser4102Ala) c.12337T>G (p.Ser4113Ala) c.4493T>G c.12316T>G (p.Ser4106Ala) c.2369T>G c.12268T>G (p.Ser4090Ala) n.3511T>G c.12370T>G (p.Ser4124Ala) c.12367T>G (p.Ser4123Ala) c.12346T>G (p.Ser4116Ala) c.12340T>G (p.Ser4114Ala) c.12334T>G (p.Ser4112Ala) c.12310T>G (p.Ser4104Ala) c.12133T>G (p.Ser4045Ala) c.12277T>G (p.Ser4093Ala) c.12349T>G (p.Ser4117Ala) | |
1 | g.237784029C>A | CA345412950 | RYR2 | c.*3409C>A (n.*3409C>A) c.12305C>A (p.Ser4102Tyr) c.12338C>A (p.Ser4113Tyr) c.4494C>A c.12317C>A (p.Ser4106Tyr) c.2370C>A c.12269C>A (p.Ser4090Tyr) n.3512C>A c.12371C>A (p.Ser4124Tyr) c.12368C>A (p.Ser4123Tyr) c.12347C>A (p.Ser4116Tyr) c.12341C>A (p.Ser4114Tyr) c.12335C>A (p.Ser4112Tyr) c.12311C>A (p.Ser4104Tyr) c.12134C>A (p.Ser4045Tyr) c.12278C>A (p.Ser4093Tyr) c.12350C>A (p.Ser4117Tyr) | |
1 | g.237784029C>G | CA345412951 | RYR2 | c.*3409C>G (n.*3409C>G) c.12305C>G (p.Ser4102Cys) c.12338C>G (p.Ser4113Cys) c.4494C>G c.12317C>G (p.Ser4106Cys) c.2370C>G c.12269C>G (p.Ser4090Cys) n.3512C>G c.12371C>G (p.Ser4124Cys) c.12368C>G (p.Ser4123Cys) c.12347C>G (p.Ser4116Cys) c.12341C>G (p.Ser4114Cys) c.12335C>G (p.Ser4112Cys) c.12311C>G (p.Ser4104Cys) c.12134C>G (p.Ser4045Cys) c.12278C>G (p.Ser4093Cys) c.12350C>G (p.Ser4117Cys) | |
1 | g.237784029C>T | CA345412952 | RYR2 | c.*3409C>T (n.*3409C>T) c.12305C>T (p.Ser4102Phe) c.12338C>T (p.Ser4113Phe) c.4494C>T c.12317C>T (p.Ser4106Phe) c.2370C>T c.12269C>T (p.Ser4090Phe) n.3512C>T c.12371C>T (p.Ser4124Phe) c.12368C>T (p.Ser4123Phe) c.12347C>T (p.Ser4116Phe) c.12341C>T (p.Ser4114Phe) c.12335C>T (p.Ser4112Phe) c.12311C>T (p.Ser4104Phe) c.12134C>T (p.Ser4045Phe) c.12278C>T (p.Ser4093Phe) c.12350C>T (p.Ser4117Phe) | |
1 | g.237784030T>A | CA424032153 | RYR2 | c.*3410T>A (n.*3410T>A) c.12306T>A (p.Ser4102=) c.12339T>A (p.Ser4113=) c.4495T>A c.12318T>A (p.Ser4106=) c.2371T>A c.12270T>A (p.Ser4090=) n.3513T>A c.12372T>A (p.Ser4124=) c.12369T>A (p.Ser4123=) c.12348T>A (p.Ser4116=) c.12342T>A (p.Ser4114=) c.12336T>A (p.Ser4112=) c.12312T>A (p.Ser4104=) c.12135T>A (p.Ser4045=) c.12279T>A (p.Ser4093=) c.12351T>A (p.Ser4117=) | |
1 | g.237784030T>C | CA424032152 | RYR2 | c.*3410T>C (n.*3410T>C) c.12306T>C (p.Ser4102=) c.12339T>C (p.Ser4113=) c.4495T>C c.12318T>C (p.Ser4106=) c.2371T>C c.12270T>C (p.Ser4090=) n.3513T>C c.12372T>C (p.Ser4124=) c.12369T>C (p.Ser4123=) c.12348T>C (p.Ser4116=) c.12342T>C (p.Ser4114=) c.12336T>C (p.Ser4112=) c.12312T>C (p.Ser4104=) c.12135T>C (p.Ser4045=) c.12279T>C (p.Ser4093=) c.12351T>C (p.Ser4117=) | dbSNP gnomAD v2 |
1 | g.237784030T>G | CA424032151 | RYR2 | c.*3410T>G (n.*3410T>G) c.12306T>G (p.Ser4102=) c.12339T>G (p.Ser4113=) c.4495T>G c.12318T>G (p.Ser4106=) c.2371T>G c.12270T>G (p.Ser4090=) n.3513T>G c.12372T>G (p.Ser4124=) c.12369T>G (p.Ser4123=) c.12348T>G (p.Ser4116=) c.12342T>G (p.Ser4114=) c.12336T>G (p.Ser4112=) c.12312T>G (p.Ser4104=) c.12135T>G (p.Ser4045=) c.12279T>G (p.Ser4093=) c.12351T>G (p.Ser4117=) | |
1 | g.237784030T= | CA2487482359 | RYR2 | c.*3410T= (n.*3410T=) c.12306T= (p.Ser4102=) c.12339T= (p.Ser4113=) c.4495T= c.12318T= (p.Ser4106=) c.2371T= c.12270T= (p.Ser4090=) n.3513T= c.12372T= (p.Ser4124=) c.12369T= (p.Ser4123=) c.12348T= (p.Ser4116=) c.12342T= (p.Ser4114=) c.12336T= (p.Ser4112=) c.12312T= (p.Ser4104=) c.12135T= (p.Ser4045=) c.12279T= (p.Ser4093=) c.12351T= (p.Ser4117=) | |
1 | g.237784031G>A | CA345412955 | RYR2 | c.*3411G>A (n.*3411G>A) c.12307G>A (p.Glu4103Lys) c.12340G>A (p.Glu4114Lys) c.4496G>A c.12319G>A (p.Glu4107Lys) c.2372G>A c.12271G>A (p.Glu4091Lys) n.3514G>A c.12373G>A (p.Glu4125Lys) c.12370G>A (p.Glu4124Lys) c.12349G>A (p.Glu4117Lys) c.12343G>A (p.Glu4115Lys) c.12337G>A (p.Glu4113Lys) c.12313G>A (p.Glu4105Lys) c.12136G>A (p.Glu4046Lys) c.12280G>A (p.Glu4094Lys) c.12352G>A (p.Glu4118Lys) | |
1 | g.237784031G>C | CA345412953 | RYR2 | c.*3411G>C (n.*3411G>C) c.12307G>C (p.Glu4103Gln) c.12340G>C (p.Glu4114Gln) c.4496G>C c.12319G>C (p.Glu4107Gln) c.2372G>C c.12271G>C (p.Glu4091Gln) n.3514G>C c.12373G>C (p.Glu4125Gln) c.12370G>C (p.Glu4124Gln) c.12349G>C (p.Glu4117Gln) c.12343G>C (p.Glu4115Gln) c.12337G>C (p.Glu4113Gln) c.12313G>C (p.Glu4105Gln) c.12136G>C (p.Glu4046Gln) c.12280G>C (p.Glu4094Gln) c.12352G>C (p.Glu4118Gln) | |
1 | g.237784031G>T | CA345412954 | RYR2 | c.*3411G>T (n.*3411G>T) c.12307G>T (p.Glu4103Ter) c.12340G>T (p.Glu4114Ter) c.4496G>T c.12319G>T (p.Glu4107Ter) c.2372G>T c.12271G>T (p.Glu4091Ter) n.3514G>T c.12373G>T (p.Glu4125Ter) c.12370G>T (p.Glu4124Ter) c.12349G>T (p.Glu4117Ter) c.12343G>T (p.Glu4115Ter) c.12337G>T (p.Glu4113Ter) c.12313G>T (p.Glu4105Ter) c.12136G>T (p.Glu4046Ter) c.12280G>T (p.Glu4094Ter) c.12352G>T (p.Glu4118Ter) | |
1 | g.237784032A>C | CA345412956 | RYR2 | c.*3412A>C (n.*3412A>C) c.12308A>C (p.Glu4103Ala) c.12341A>C (p.Glu4114Ala) c.4497A>C c.12320A>C (p.Glu4107Ala) c.2373A>C c.12272A>C (p.Glu4091Ala) n.3515A>C c.12374A>C (p.Glu4125Ala) c.12371A>C (p.Glu4124Ala) c.12350A>C (p.Glu4117Ala) c.12344A>C (p.Glu4115Ala) c.12338A>C (p.Glu4113Ala) c.12314A>C (p.Glu4105Ala) c.12137A>C (p.Glu4046Ala) c.12281A>C (p.Glu4094Ala) c.12353A>C (p.Glu4118Ala) | ClinVar dbSNP |
1 | g.237784032A>G | CA345412957 | RYR2 | c.*3412A>G (n.*3412A>G) c.12308A>G (p.Glu4103Gly) c.12341A>G (p.Glu4114Gly) c.4497A>G c.12320A>G (p.Glu4107Gly) c.2373A>G c.12272A>G (p.Glu4091Gly) n.3515A>G c.12374A>G (p.Glu4125Gly) c.12371A>G (p.Glu4124Gly) c.12350A>G (p.Glu4117Gly) c.12344A>G (p.Glu4115Gly) c.12338A>G (p.Glu4113Gly) c.12314A>G (p.Glu4105Gly) c.12137A>G (p.Glu4046Gly) c.12281A>G (p.Glu4094Gly) c.12353A>G (p.Glu4118Gly) | |
1 | g.237784032A>T | CA345412958 | RYR2 | c.*3412A>T (n.*3412A>T) c.12308A>T (p.Glu4103Val) c.12341A>T (p.Glu4114Val) c.4497A>T c.12320A>T (p.Glu4107Val) c.2373A>T c.12272A>T (p.Glu4091Val) n.3515A>T c.12374A>T (p.Glu4125Val) c.12371A>T (p.Glu4124Val) c.12350A>T (p.Glu4117Val) c.12344A>T (p.Glu4115Val) c.12338A>T (p.Glu4113Val) c.12314A>T (p.Glu4105Val) c.12137A>T (p.Glu4046Val) c.12281A>T (p.Glu4094Val) c.12353A>T (p.Glu4118Val) | ClinVar |
1 | g.237784033G>A | CA085168 | RYR2 | c.*3413G>A (n.*3413G>A) c.12309G>A (p.Glu4103=) c.12342G>A (p.Glu4114=) c.4498G>A c.12321G>A (p.Glu4107=) c.2374G>A c.12273G>A (p.Glu4091=) n.3516G>A c.12375G>A (p.Glu4125=) c.12372G>A (p.Glu4124=) c.12351G>A (p.Glu4117=) c.12345G>A (p.Glu4115=) c.12339G>A (p.Glu4113=) c.12315G>A (p.Glu4105=) c.12138G>A (p.Glu4046=) c.12282G>A (p.Glu4094=) c.12354G>A (p.Glu4118=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784033G>C | CA345412959 | RYR2 | c.*3413G>C (n.*3413G>C) c.12309G>C (p.Glu4103Asp) c.12342G>C (p.Glu4114Asp) c.4498G>C c.12321G>C (p.Glu4107Asp) c.2374G>C c.12273G>C (p.Glu4091Asp) n.3516G>C c.12375G>C (p.Glu4125Asp) c.12372G>C (p.Glu4124Asp) c.12351G>C (p.Glu4117Asp) c.12345G>C (p.Glu4115Asp) c.12339G>C (p.Glu4113Asp) c.12315G>C (p.Glu4105Asp) c.12138G>C (p.Glu4046Asp) c.12282G>C (p.Glu4094Asp) c.12354G>C (p.Glu4118Asp) | |
1 | g.237784033G= | CA1146285408 | RYR2 | c.*3413G= (n.*3413G=) c.12309G= (p.Glu4103=) c.12342G= (p.Glu4114=) c.4498G= c.12321G= (p.Glu4107=) c.2374G= c.12273G= (p.Glu4091=) n.3516G= c.12375G= (p.Glu4125=) c.12372G= (p.Glu4124=) c.12351G= (p.Glu4117=) c.12345G= (p.Glu4115=) c.12339G= (p.Glu4113=) c.12315G= (p.Glu4105=) c.12138G= (p.Glu4046=) c.12282G= (p.Glu4094=) c.12354G= (p.Glu4118=) | |
1 | g.237784033G>T | CA345412960 | RYR2 | c.*3413G>T (n.*3413G>T) c.12309G>T (p.Glu4103Asp) c.12342G>T (p.Glu4114Asp) c.4498G>T c.12321G>T (p.Glu4107Asp) c.2374G>T c.12273G>T (p.Glu4091Asp) n.3516G>T c.12375G>T (p.Glu4125Asp) c.12372G>T (p.Glu4124Asp) c.12351G>T (p.Glu4117Asp) c.12345G>T (p.Glu4115Asp) c.12339G>T (p.Glu4113Asp) c.12315G>T (p.Glu4105Asp) c.12138G>T (p.Glu4046Asp) c.12282G>T (p.Glu4094Asp) c.12354G>T (p.Glu4118Asp) | COSMIC |
1 | g.237784034C>A | CA345412961 | RYR2 | c.*3414C>A (n.*3414C>A) c.12310C>A (p.His4104Asn) c.12343C>A (p.His4115Asn) c.4499C>A c.12322C>A (p.His4108Asn) c.2375C>A c.12274C>A (p.His4092Asn) n.3517C>A c.12376C>A (p.His4126Asn) c.12373C>A (p.His4125Asn) c.12352C>A (p.His4118Asn) c.12346C>A (p.His4116Asn) c.12340C>A (p.His4114Asn) c.12316C>A (p.His4106Asn) c.12139C>A (p.His4047Asn) c.12283C>A (p.His4095Asn) c.12355C>A (p.His4119Asn) | dbSNP |
1 | g.237784034C= | CA2487482360 | RYR2 | c.*3414C= (n.*3414C=) c.12310C= (p.His4104=) c.12343C= (p.His4115=) c.4499C= c.12322C= (p.His4108=) c.2375C= c.12274C= (p.His4092=) n.3517C= c.12376C= (p.His4126=) c.12373C= (p.His4125=) c.12352C= (p.His4118=) c.12346C= (p.His4116=) c.12340C= (p.His4114=) c.12316C= (p.His4106=) c.12139C= (p.His4047=) c.12283C= (p.His4095=) c.12355C= (p.His4119=) | |
1 | g.237784034C>G | CA345412962 | RYR2 | c.*3414C>G (n.*3414C>G) c.12310C>G (p.His4104Asp) c.12343C>G (p.His4115Asp) c.4499C>G c.12322C>G (p.His4108Asp) c.2375C>G c.12274C>G (p.His4092Asp) n.3517C>G c.12376C>G (p.His4126Asp) c.12373C>G (p.His4125Asp) c.12352C>G (p.His4118Asp) c.12346C>G (p.His4116Asp) c.12340C>G (p.His4114Asp) c.12316C>G (p.His4106Asp) c.12139C>G (p.His4047Asp) c.12283C>G (p.His4095Asp) c.12355C>G (p.His4119Asp) | ClinVar dbSNP |
1 | g.237784034C>T | CA345412963 | RYR2 | c.*3414C>T (n.*3414C>T) c.12310C>T (p.His4104Tyr) c.12343C>T (p.His4115Tyr) c.4499C>T c.12322C>T (p.His4108Tyr) c.2375C>T c.12274C>T (p.His4092Tyr) n.3517C>T c.12376C>T (p.His4126Tyr) c.12373C>T (p.His4125Tyr) c.12352C>T (p.His4118Tyr) c.12346C>T (p.His4116Tyr) c.12340C>T (p.His4114Tyr) c.12316C>T (p.His4106Tyr) c.12139C>T (p.His4047Tyr) c.12283C>T (p.His4095Tyr) c.12355C>T (p.His4119Tyr) | ClinVar dbSNP gnomAD v2 |
1 | g.237784035A>C | CA345412964 | RYR2 | c.*3415A>C (n.*3415A>C) c.12311A>C (p.His4104Pro) c.12344A>C (p.His4115Pro) c.4500A>C c.12323A>C (p.His4108Pro) c.2376A>C c.12275A>C (p.His4092Pro) n.3518A>C c.12377A>C (p.His4126Pro) c.12374A>C (p.His4125Pro) c.12353A>C (p.His4118Pro) c.12347A>C (p.His4116Pro) c.12341A>C (p.His4114Pro) c.12317A>C (p.His4106Pro) c.12140A>C (p.His4047Pro) c.12284A>C (p.His4095Pro) c.12356A>C (p.His4119Pro) | |
1 | g.237784035A>G | CA345412965 | RYR2 | c.*3415A>G (n.*3415A>G) c.12311A>G (p.His4104Arg) c.12344A>G (p.His4115Arg) c.4500A>G c.12323A>G (p.His4108Arg) c.2376A>G c.12275A>G (p.His4092Arg) n.3518A>G c.12377A>G (p.His4126Arg) c.12374A>G (p.His4125Arg) c.12353A>G (p.His4118Arg) c.12347A>G (p.His4116Arg) c.12341A>G (p.His4114Arg) c.12317A>G (p.His4106Arg) c.12140A>G (p.His4047Arg) c.12284A>G (p.His4095Arg) c.12356A>G (p.His4119Arg) | gnomAD v4 COSMIC COSMIC |
1 | g.237784035A>T | CA345412966 | RYR2 | c.*3415A>T (n.*3415A>T) c.12311A>T (p.His4104Leu) c.12344A>T (p.His4115Leu) c.4500A>T c.12323A>T (p.His4108Leu) c.2376A>T c.12275A>T (p.His4092Leu) n.3518A>T c.12377A>T (p.His4126Leu) c.12374A>T (p.His4125Leu) c.12353A>T (p.His4118Leu) c.12347A>T (p.His4116Leu) c.12341A>T (p.His4114Leu) c.12317A>T (p.His4106Leu) c.12140A>T (p.His4047Leu) c.12284A>T (p.His4095Leu) c.12356A>T (p.His4119Leu) | |
1 | g.237784036C>A | CA345412968 | RYR2 | c.*3416C>A (n.*3416C>A) c.12312C>A (p.His4104Gln) c.12345C>A (p.His4115Gln) c.4501C>A c.12324C>A (p.His4108Gln) c.2377C>A c.12276C>A (p.His4092Gln) n.3519C>A c.12378C>A (p.His4126Gln) c.12375C>A (p.His4125Gln) c.12354C>A (p.His4118Gln) c.12348C>A (p.His4116Gln) c.12342C>A (p.His4114Gln) c.12318C>A (p.His4106Gln) c.12141C>A (p.His4047Gln) c.12285C>A (p.His4095Gln) c.12357C>A (p.His4119Gln) | dbSNP |
1 | g.237784036C= | CA1143052843 | RYR2 | c.*3416C= (n.*3416C=) c.12312C= (p.His4104=) c.12345C= (p.His4115=) c.4501C= c.12324C= (p.His4108=) c.2377C= c.12276C= (p.His4092=) n.3519C= c.12378C= (p.His4126=) c.12375C= (p.His4125=) c.12354C= (p.His4118=) c.12348C= (p.His4116=) c.12342C= (p.His4114=) c.12318C= (p.His4106=) c.12141C= (p.His4047=) c.12285C= (p.His4095=) c.12357C= (p.His4119=) | |
1 | g.237784036C>G | CA345412967 | RYR2 | c.*3416C>G (n.*3416C>G) c.12312C>G (p.His4104Gln) c.12345C>G (p.His4115Gln) c.4501C>G c.12324C>G (p.His4108Gln) c.2377C>G c.12276C>G (p.His4092Gln) n.3519C>G c.12378C>G (p.His4126Gln) c.12375C>G (p.His4125Gln) c.12354C>G (p.His4118Gln) c.12348C>G (p.His4116Gln) c.12342C>G (p.His4114Gln) c.12318C>G (p.His4106Gln) c.12141C>G (p.His4047Gln) c.12285C>G (p.His4095Gln) c.12357C>G (p.His4119Gln) | |
1 | g.237784036C>T | CA39827481 | RYR2 | c.*3416C>T (n.*3416C>T) c.12312C>T (p.His4104=) c.12345C>T (p.His4115=) c.4501C>T c.12324C>T (p.His4108=) c.2377C>T c.12276C>T (p.His4092=) n.3519C>T c.12378C>T (p.His4126=) c.12375C>T (p.His4125=) c.12354C>T (p.His4118=) c.12348C>T (p.His4116=) c.12342C>T (p.His4114=) c.12318C>T (p.His4106=) c.12141C>T (p.His4047=) c.12285C>T (p.His4095=) c.12357C>T (p.His4119=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784037A= | CA1148225103 | RYR2 | c.*3417A= (n.*3417A=) c.12313A= (p.Met4105=) c.12346A= (p.Met4116=) c.4502A= c.12325A= (p.Met4109=) c.2378A= c.12277A= (p.Met4093=) n.3520A= c.12379A= (p.Met4127=) c.12376A= (p.Met4126=) c.12355A= (p.Met4119=) c.12349A= (p.Met4117=) c.12343A= (p.Met4115=) c.12319A= (p.Met4107=) c.12142A= (p.Met4048=) c.12286A= (p.Met4096=) c.12358A= (p.Met4120=) | |
1 | g.237784037A>C | CA345412970 | RYR2 | c.*3417A>C (n.*3417A>C) c.12313A>C (p.Met4105Leu) c.12346A>C (p.Met4116Leu) c.4502A>C c.12325A>C (p.Met4109Leu) c.2378A>C c.12277A>C (p.Met4093Leu) n.3520A>C c.12379A>C (p.Met4127Leu) c.12376A>C (p.Met4126Leu) c.12355A>C (p.Met4119Leu) c.12349A>C (p.Met4117Leu) c.12343A>C (p.Met4115Leu) c.12319A>C (p.Met4107Leu) c.12142A>C (p.Met4048Leu) c.12286A>C (p.Met4096Leu) c.12358A>C (p.Met4120Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784037A>G | CA007471 | RYR2 | c.*3417A>G (n.*3417A>G) c.12313A>G (p.Met4105Val) c.12346A>G (p.Met4116Val) c.4502A>G c.12325A>G (p.Met4109Val) c.2378A>G c.12277A>G (p.Met4093Val) n.3520A>G c.12379A>G (p.Met4127Val) c.12376A>G (p.Met4126Val) c.12355A>G (p.Met4119Val) c.12349A>G (p.Met4117Val) c.12343A>G (p.Met4115Val) c.12319A>G (p.Met4107Val) c.12142A>G (p.Met4048Val) c.12286A>G (p.Met4096Val) c.12358A>G (p.Met4120Val) | ClinVar dbSNP |
1 | g.237784037A>T | CA345412969 | RYR2 | c.*3417A>T (n.*3417A>T) c.12313A>T (p.Met4105Leu) c.12346A>T (p.Met4116Leu) c.4502A>T c.12325A>T (p.Met4109Leu) c.2378A>T c.12277A>T (p.Met4093Leu) n.3520A>T c.12379A>T (p.Met4127Leu) c.12376A>T (p.Met4126Leu) c.12355A>T (p.Met4119Leu) c.12349A>T (p.Met4117Leu) c.12343A>T (p.Met4115Leu) c.12319A>T (p.Met4107Leu) c.12142A>T (p.Met4048Leu) c.12286A>T (p.Met4096Leu) c.12358A>T (p.Met4120Leu) | |
1 | g.237784038T>A | CA345412971 | RYR2 | c.*3418T>A (n.*3418T>A) c.12314T>A (p.Met4105Lys) c.12347T>A (p.Met4116Lys) c.4503T>A c.12326T>A (p.Met4109Lys) c.2379T>A c.12278T>A (p.Met4093Lys) n.3521T>A c.12380T>A (p.Met4127Lys) c.12377T>A (p.Met4126Lys) c.12356T>A (p.Met4119Lys) c.12350T>A (p.Met4117Lys) c.12344T>A (p.Met4115Lys) c.12320T>A (p.Met4107Lys) c.12143T>A (p.Met4048Lys) c.12287T>A (p.Met4096Lys) c.12359T>A (p.Met4120Lys) | |
1 | g.237784038T>C | CA345412972 | RYR2 | c.*3418T>C (n.*3418T>C) c.12314T>C (p.Met4105Thr) c.12347T>C (p.Met4116Thr) c.4503T>C c.12326T>C (p.Met4109Thr) c.2379T>C c.12278T>C (p.Met4093Thr) n.3521T>C c.12380T>C (p.Met4127Thr) c.12377T>C (p.Met4126Thr) c.12356T>C (p.Met4119Thr) c.12350T>C (p.Met4117Thr) c.12344T>C (p.Met4115Thr) c.12320T>C (p.Met4107Thr) c.12143T>C (p.Met4048Thr) c.12287T>C (p.Met4096Thr) c.12359T>C (p.Met4120Thr) | ClinVar dbSNP |
1 | g.237784038T>G | CA345412973 | RYR2 | c.*3418T>G (n.*3418T>G) c.12314T>G (p.Met4105Arg) c.12347T>G (p.Met4116Arg) c.4503T>G c.12326T>G (p.Met4109Arg) c.2379T>G c.12278T>G (p.Met4093Arg) n.3521T>G c.12380T>G (p.Met4127Arg) c.12377T>G (p.Met4126Arg) c.12356T>G (p.Met4119Arg) c.12350T>G (p.Met4117Arg) c.12344T>G (p.Met4115Arg) c.12320T>G (p.Met4107Arg) c.12143T>G (p.Met4048Arg) c.12287T>G (p.Met4096Arg) c.12359T>G (p.Met4120Arg) | dbSNP |
1 | g.237784038T= | CA2487482361 | RYR2 | c.*3418T= (n.*3418T=) c.12314T= (p.Met4105=) c.12347T= (p.Met4116=) c.4503T= c.12326T= (p.Met4109=) c.2379T= c.12278T= (p.Met4093=) n.3521T= c.12380T= (p.Met4127=) c.12377T= (p.Met4126=) c.12356T= (p.Met4119=) c.12350T= (p.Met4117=) c.12344T= (p.Met4115=) c.12320T= (p.Met4107=) c.12143T= (p.Met4048=) c.12287T= (p.Met4096=) c.12359T= (p.Met4120=) | |
1 | g.237784039G>A | CA345412976 | RYR2 | c.*3419G>A (n.*3419G>A) c.12315G>A (p.Met4105Ile) c.12348G>A (p.Met4116Ile) c.4504G>A c.12327G>A (p.Met4109Ile) c.2380G>A c.12279G>A (p.Met4093Ile) n.3522G>A c.12381G>A (p.Met4127Ile) c.12378G>A (p.Met4126Ile) c.12357G>A (p.Met4119Ile) c.12351G>A (p.Met4117Ile) c.12345G>A (p.Met4115Ile) c.12321G>A (p.Met4107Ile) c.12144G>A (p.Met4048Ile) c.12288G>A (p.Met4096Ile) c.12360G>A (p.Met4120Ile) | |
1 | g.237784039G>C | CA345412975 | RYR2 | c.*3419G>C (n.*3419G>C) c.12315G>C (p.Met4105Ile) c.12348G>C (p.Met4116Ile) c.4504G>C c.12327G>C (p.Met4109Ile) c.2380G>C c.12279G>C (p.Met4093Ile) n.3522G>C c.12381G>C (p.Met4127Ile) c.12378G>C (p.Met4126Ile) c.12357G>C (p.Met4119Ile) c.12351G>C (p.Met4117Ile) c.12345G>C (p.Met4115Ile) c.12321G>C (p.Met4107Ile) c.12144G>C (p.Met4048Ile) c.12288G>C (p.Met4096Ile) c.12360G>C (p.Met4120Ile) | |
1 | g.237784039G= | CA2487482362 | RYR2 | c.*3419G= (n.*3419G=) c.12315G= (p.Met4105=) c.12348G= (p.Met4116=) c.4504G= c.12327G= (p.Met4109=) c.2380G= c.12279G= (p.Met4093=) n.3522G= c.12381G= (p.Met4127=) c.12378G= (p.Met4126=) c.12357G= (p.Met4119=) c.12351G= (p.Met4117=) c.12345G= (p.Met4115=) c.12321G= (p.Met4107=) c.12144G= (p.Met4048=) c.12288G= (p.Met4096=) c.12360G= (p.Met4120=) | |
1 | g.237784039G>T | CA345412974 | RYR2 | c.*3419G>T (n.*3419G>T) c.12315G>T (p.Met4105Ile) c.12348G>T (p.Met4116Ile) c.4504G>T c.12327G>T (p.Met4109Ile) c.2380G>T c.12279G>T (p.Met4093Ile) n.3522G>T c.12381G>T (p.Met4127Ile) c.12378G>T (p.Met4126Ile) c.12357G>T (p.Met4119Ile) c.12351G>T (p.Met4117Ile) c.12345G>T (p.Met4115Ile) c.12321G>T (p.Met4107Ile) c.12144G>T (p.Met4048Ile) c.12288G>T (p.Met4096Ile) c.12360G>T (p.Met4120Ile) | ClinVar dbSNP gnomAD v4 |
1 | g.237784040C>A | CA345412977 | RYR2 | c.*3420C>A (n.*3420C>A) c.12316C>A (p.Pro4106Thr) c.12349C>A (p.Pro4117Thr) c.4505C>A c.12328C>A (p.Pro4110Thr) c.2381C>A c.12280C>A (p.Pro4094Thr) n.3523C>A c.12382C>A (p.Pro4128Thr) c.12379C>A (p.Pro4127Thr) c.12358C>A (p.Pro4120Thr) c.12352C>A (p.Pro4118Thr) c.12346C>A (p.Pro4116Thr) c.12322C>A (p.Pro4108Thr) c.12145C>A (p.Pro4049Thr) c.12289C>A (p.Pro4097Thr) c.12361C>A (p.Pro4121Thr) | gnomAD v4 |
1 | g.237784040C>G | CA345412978 | RYR2 | c.*3420C>G (n.*3420C>G) c.12316C>G (p.Pro4106Ala) c.12349C>G (p.Pro4117Ala) c.4505C>G c.12328C>G (p.Pro4110Ala) c.2381C>G c.12280C>G (p.Pro4094Ala) n.3523C>G c.12382C>G (p.Pro4128Ala) c.12379C>G (p.Pro4127Ala) c.12358C>G (p.Pro4120Ala) c.12352C>G (p.Pro4118Ala) c.12346C>G (p.Pro4116Ala) c.12322C>G (p.Pro4108Ala) c.12145C>G (p.Pro4049Ala) c.12289C>G (p.Pro4097Ala) c.12361C>G (p.Pro4121Ala) | |
1 | g.237784040C>T | CA345412979 | RYR2 | c.*3420C>T (n.*3420C>T) c.12316C>T (p.Pro4106Ser) c.12349C>T (p.Pro4117Ser) c.4505C>T c.12328C>T (p.Pro4110Ser) c.2381C>T c.12280C>T (p.Pro4094Ser) n.3523C>T c.12382C>T (p.Pro4128Ser) c.12379C>T (p.Pro4127Ser) c.12358C>T (p.Pro4120Ser) c.12352C>T (p.Pro4118Ser) c.12346C>T (p.Pro4116Ser) c.12322C>T (p.Pro4108Ser) c.12145C>T (p.Pro4049Ser) c.12289C>T (p.Pro4097Ser) c.12361C>T (p.Pro4121Ser) | gnomAD v4 |
1 | g.237784041C>A | CA345412980 | RYR2 | c.*3421C>A (n.*3421C>A) c.12317C>A (p.Pro4106His) c.12350C>A (p.Pro4117His) c.4506C>A c.12329C>A (p.Pro4110His) c.2382C>A c.12281C>A (p.Pro4094His) n.3524C>A c.12383C>A (p.Pro4128His) c.12380C>A (p.Pro4127His) c.12359C>A (p.Pro4120His) c.12353C>A (p.Pro4118His) c.12347C>A (p.Pro4116His) c.12323C>A (p.Pro4108His) c.12146C>A (p.Pro4049His) c.12290C>A (p.Pro4097His) c.12362C>A (p.Pro4121His) | gnomAD v4 |
1 | g.237784041C>G | CA345412981 | RYR2 | c.*3421C>G (n.*3421C>G) c.12317C>G (p.Pro4106Arg) c.12350C>G (p.Pro4117Arg) c.4506C>G c.12329C>G (p.Pro4110Arg) c.2382C>G c.12281C>G (p.Pro4094Arg) n.3524C>G c.12383C>G (p.Pro4128Arg) c.12380C>G (p.Pro4127Arg) c.12359C>G (p.Pro4120Arg) c.12353C>G (p.Pro4118Arg) c.12347C>G (p.Pro4116Arg) c.12323C>G (p.Pro4108Arg) c.12146C>G (p.Pro4049Arg) c.12290C>G (p.Pro4097Arg) c.12362C>G (p.Pro4121Arg) | |
1 | g.237784041C>T | CA345412982 | RYR2 | c.*3421C>T (n.*3421C>T) c.12317C>T (p.Pro4106Leu) c.12350C>T (p.Pro4117Leu) c.4506C>T c.12329C>T (p.Pro4110Leu) c.2382C>T c.12281C>T (p.Pro4094Leu) n.3524C>T c.12383C>T (p.Pro4128Leu) c.12380C>T (p.Pro4127Leu) c.12359C>T (p.Pro4120Leu) c.12353C>T (p.Pro4118Leu) c.12347C>T (p.Pro4116Leu) c.12323C>T (p.Pro4108Leu) c.12146C>T (p.Pro4049Leu) c.12290C>T (p.Pro4097Leu) c.12362C>T (p.Pro4121Leu) | |
1 | g.237784042C>A | CA424032158 | RYR2 | c.*3422C>A (n.*3422C>A) c.12318C>A (p.Pro4106=) c.12351C>A (p.Pro4117=) c.4507C>A c.12330C>A (p.Pro4110=) c.2383C>A c.12282C>A (p.Pro4094=) n.3525C>A c.12384C>A (p.Pro4128=) c.12381C>A (p.Pro4127=) c.12360C>A (p.Pro4120=) c.12354C>A (p.Pro4118=) c.12348C>A (p.Pro4116=) c.12324C>A (p.Pro4108=) c.12147C>A (p.Pro4049=) c.12291C>A (p.Pro4097=) c.12363C>A (p.Pro4121=) | |
1 | g.237784042C= | CA2487482363 | RYR2 | c.*3422C= (n.*3422C=) c.12318C= (p.Pro4106=) c.12351C= (p.Pro4117=) c.4507C= c.12330C= (p.Pro4110=) c.2383C= c.12282C= (p.Pro4094=) n.3525C= c.12384C= (p.Pro4128=) c.12381C= (p.Pro4127=) c.12360C= (p.Pro4120=) c.12354C= (p.Pro4118=) c.12348C= (p.Pro4116=) c.12324C= (p.Pro4108=) c.12147C= (p.Pro4049=) c.12291C= (p.Pro4097=) c.12363C= (p.Pro4121=) | |
1 | g.237784042C>G | CA424032159 | RYR2 | c.*3422C>G (n.*3422C>G) c.12318C>G (p.Pro4106=) c.12351C>G (p.Pro4117=) c.4507C>G c.12330C>G (p.Pro4110=) c.2383C>G c.12282C>G (p.Pro4094=) n.3525C>G c.12384C>G (p.Pro4128=) c.12381C>G (p.Pro4127=) c.12360C>G (p.Pro4120=) c.12354C>G (p.Pro4118=) c.12348C>G (p.Pro4116=) c.12324C>G (p.Pro4108=) c.12147C>G (p.Pro4049=) c.12291C>G (p.Pro4097=) c.12363C>G (p.Pro4121=) | |
1 | g.237784042C>T | CA424032160 | RYR2 | c.*3422C>T (n.*3422C>T) c.12318C>T (p.Pro4106=) c.12351C>T (p.Pro4117=) c.4507C>T c.12330C>T (p.Pro4110=) c.2383C>T c.12282C>T (p.Pro4094=) n.3525C>T c.12384C>T (p.Pro4128=) c.12381C>T (p.Pro4127=) c.12360C>T (p.Pro4120=) c.12354C>T (p.Pro4118=) c.12348C>T (p.Pro4116=) c.12324C>T (p.Pro4108=) c.12147C>T (p.Pro4049=) c.12291C>T (p.Pro4097=) c.12363C>T (p.Pro4121=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784042_237784043insCAAACACACCCAACAC | CA2748280158 | RYR2 | c.*3422_*3423insCAAACACACCCAACAC (n.*3422_*3423insCAAACACACCCAACAC) c.12318_12319insCAAACACACCCAACAC (p.Asn4107GlnfsTer?) c.12351_12352insCAAACACACCCAACAC (p.Asn4118GlnfsTer?) c.4507_4508insCAAACACACCCAACAC c.12330_12331insCAAACACACCCAACAC (p.Asn4111GlnfsTer?) c.2383_2384insCAAACACACCCAACAC c.12282_12283insCAAACACACCCAACAC (p.Asn4095GlnfsTer?) n.3525_3526insCAAACACACCCAACAC c.12384_12385insCAAACACACCCAACAC (p.Asn4129GlnfsTer?) c.12381_12382insCAAACACACCCAACAC (p.Asn4128GlnfsTer?) c.12360_12361insCAAACACACCCAACAC (p.Asn4121GlnfsTer?) c.12354_12355insCAAACACACCCAACAC (p.Asn4119GlnfsTer?) c.12348_12349insCAAACACACCCAACAC (p.Asn4117GlnfsTer?) c.12324_12325insCAAACACACCCAACAC (p.Asn4109GlnfsTer?) c.12147_12148insCAAACACACCCAACAC (p.Asn4050GlnfsTer?) c.12291_12292insCAAACACACCCAACAC (p.Asn4098GlnfsTer?) c.12363_12364insCAAACACACCCAACAC (p.Asn4122GlnfsTer?) | |
1 | g.237784043A= | CA1143325881 | RYR2 | c.*3423A= (n.*3423A=) c.12319A= (p.Asn4107=) c.12352A= (p.Asn4118=) c.4508A= c.12331A= (p.Asn4111=) c.2384A= c.12283A= (p.Asn4095=) n.3526A= c.12385A= (p.Asn4129=) c.12382A= (p.Asn4128=) c.12361A= (p.Asn4121=) c.12355A= (p.Asn4119=) c.12349A= (p.Asn4117=) c.12325A= (p.Asn4109=) c.12148A= (p.Asn4050=) c.12292A= (p.Asn4098=) c.12364A= (p.Asn4122=) | |
1 | g.237784043A>C | CA085169 | RYR2 | c.*3423A>C (n.*3423A>C) c.12319A>C (p.Asn4107His) c.12352A>C (p.Asn4118His) c.4508A>C c.12331A>C (p.Asn4111His) c.2384A>C c.12283A>C (p.Asn4095His) n.3526A>C c.12385A>C (p.Asn4129His) c.12382A>C (p.Asn4128His) c.12361A>C (p.Asn4121His) c.12355A>C (p.Asn4119His) c.12349A>C (p.Asn4117His) c.12325A>C (p.Asn4109His) c.12148A>C (p.Asn4050His) c.12292A>C (p.Asn4098His) c.12364A>C (p.Asn4122His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784043A>G | CA345412984 | RYR2 | c.*3423A>G (n.*3423A>G) c.12319A>G (p.Asn4107Asp) c.12352A>G (p.Asn4118Asp) c.4508A>G c.12331A>G (p.Asn4111Asp) c.2384A>G c.12283A>G (p.Asn4095Asp) n.3526A>G c.12385A>G (p.Asn4129Asp) c.12382A>G (p.Asn4128Asp) c.12361A>G (p.Asn4121Asp) c.12355A>G (p.Asn4119Asp) c.12349A>G (p.Asn4117Asp) c.12325A>G (p.Asn4109Asp) c.12148A>G (p.Asn4050Asp) c.12292A>G (p.Asn4098Asp) c.12364A>G (p.Asn4122Asp) | |
1 | g.237784043A>T | CA345412983 | RYR2 | c.*3423A>T (n.*3423A>T) c.12319A>T (p.Asn4107Tyr) c.12352A>T (p.Asn4118Tyr) c.4508A>T c.12331A>T (p.Asn4111Tyr) c.2384A>T c.12283A>T (p.Asn4095Tyr) n.3526A>T c.12385A>T (p.Asn4129Tyr) c.12382A>T (p.Asn4128Tyr) c.12361A>T (p.Asn4121Tyr) c.12355A>T (p.Asn4119Tyr) c.12349A>T (p.Asn4117Tyr) c.12325A>T (p.Asn4109Tyr) c.12148A>T (p.Asn4050Tyr) c.12292A>T (p.Asn4098Tyr) c.12364A>T (p.Asn4122Tyr) | |
1 | g.237784044A= | CA2487482364 | RYR2 | c.*3424A= (n.*3424A=) c.12320A= (p.Asn4107=) c.12353A= (p.Asn4118=) c.4509A= c.12332A= (p.Asn4111=) c.2385A= c.12284A= (p.Asn4095=) n.3527A= c.12386A= (p.Asn4129=) c.12383A= (p.Asn4128=) c.12362A= (p.Asn4121=) c.12356A= (p.Asn4119=) c.12350A= (p.Asn4117=) c.12326A= (p.Asn4109=) c.12149A= (p.Asn4050=) c.12293A= (p.Asn4098=) c.12365A= (p.Asn4122=) | |
1 | g.237784044A>C | CA345412985 | RYR2 | c.*3424A>C (n.*3424A>C) c.12320A>C (p.Asn4107Thr) c.12353A>C (p.Asn4118Thr) c.4509A>C c.12332A>C (p.Asn4111Thr) c.2385A>C c.12284A>C (p.Asn4095Thr) n.3527A>C c.12386A>C (p.Asn4129Thr) c.12383A>C (p.Asn4128Thr) c.12362A>C (p.Asn4121Thr) c.12356A>C (p.Asn4119Thr) c.12350A>C (p.Asn4117Thr) c.12326A>C (p.Asn4109Thr) c.12149A>C (p.Asn4050Thr) c.12293A>C (p.Asn4098Thr) c.12365A>C (p.Asn4122Thr) | |
1 | g.237784044A>G | CA345412986 | RYR2 | c.*3424A>G (n.*3424A>G) c.12320A>G (p.Asn4107Ser) c.12353A>G (p.Asn4118Ser) c.4509A>G c.12332A>G (p.Asn4111Ser) c.2385A>G c.12284A>G (p.Asn4095Ser) n.3527A>G c.12386A>G (p.Asn4129Ser) c.12383A>G (p.Asn4128Ser) c.12362A>G (p.Asn4121Ser) c.12356A>G (p.Asn4119Ser) c.12350A>G (p.Asn4117Ser) c.12326A>G (p.Asn4109Ser) c.12149A>G (p.Asn4050Ser) c.12293A>G (p.Asn4098Ser) c.12365A>G (p.Asn4122Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784044A>T | CA345412987 | RYR2 | c.*3424A>T (n.*3424A>T) c.12320A>T (p.Asn4107Ile) c.12353A>T (p.Asn4118Ile) c.4509A>T c.12332A>T (p.Asn4111Ile) c.2385A>T c.12284A>T (p.Asn4095Ile) n.3527A>T c.12386A>T (p.Asn4129Ile) c.12383A>T (p.Asn4128Ile) c.12362A>T (p.Asn4121Ile) c.12356A>T (p.Asn4119Ile) c.12350A>T (p.Asn4117Ile) c.12326A>T (p.Asn4109Ile) c.12149A>T (p.Asn4050Ile) c.12293A>T (p.Asn4098Ile) c.12365A>T (p.Asn4122Ile) | |
1 | g.237784045C>A | CA345412988 | RYR2 | c.*3425C>A (n.*3425C>A) c.12321C>A (p.Asn4107Lys) c.12354C>A (p.Asn4118Lys) c.4510C>A c.12333C>A (p.Asn4111Lys) c.2386C>A c.12285C>A (p.Asn4095Lys) n.3528C>A c.12387C>A (p.Asn4129Lys) c.12384C>A (p.Asn4128Lys) c.12363C>A (p.Asn4121Lys) c.12357C>A (p.Asn4119Lys) c.12351C>A (p.Asn4117Lys) c.12327C>A (p.Asn4109Lys) c.12150C>A (p.Asn4050Lys) c.12294C>A (p.Asn4098Lys) c.12366C>A (p.Asn4122Lys) | |
1 | g.237784045C= | CA1149037324 | RYR2 | c.*3425C= (n.*3425C=) c.12321C= (p.Asn4107=) c.12354C= (p.Asn4118=) c.4510C= c.12333C= (p.Asn4111=) c.2386C= c.12285C= (p.Asn4095=) n.3528C= c.12387C= (p.Asn4129=) c.12384C= (p.Asn4128=) c.12363C= (p.Asn4121=) c.12357C= (p.Asn4119=) c.12351C= (p.Asn4117=) c.12327C= (p.Asn4109=) c.12150C= (p.Asn4050=) c.12294C= (p.Asn4098=) c.12366C= (p.Asn4122=) | |
1 | g.237784045C>G | CA345412989 | RYR2 | c.*3425C>G (n.*3425C>G) c.12321C>G (p.Asn4107Lys) c.12354C>G (p.Asn4118Lys) c.4510C>G c.12333C>G (p.Asn4111Lys) c.2386C>G c.12285C>G (p.Asn4095Lys) n.3528C>G c.12387C>G (p.Asn4129Lys) c.12384C>G (p.Asn4128Lys) c.12363C>G (p.Asn4121Lys) c.12357C>G (p.Asn4119Lys) c.12351C>G (p.Asn4117Lys) c.12327C>G (p.Asn4109Lys) c.12150C>G (p.Asn4050Lys) c.12294C>G (p.Asn4098Lys) c.12366C>G (p.Asn4122Lys) | ClinVar |
1 | g.237784045C>T | CA085170 | RYR2 | c.*3425C>T (n.*3425C>T) c.12321C>T (p.Asn4107=) c.12354C>T (p.Asn4118=) c.4510C>T c.12333C>T (p.Asn4111=) c.2386C>T c.12285C>T (p.Asn4095=) n.3528C>T c.12387C>T (p.Asn4129=) c.12384C>T (p.Asn4128=) c.12363C>T (p.Asn4121=) c.12357C>T (p.Asn4119=) c.12351C>T (p.Asn4117=) c.12327C>T (p.Asn4109=) c.12150C>T (p.Asn4050=) c.12294C>T (p.Asn4098=) c.12366C>T (p.Asn4122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784046G>A | CA345412990 | RYR2 | c.*3426G>A (n.*3426G>A) c.12322G>A (p.Asp4108Asn) c.12355G>A (p.Asp4119Asn) c.4511G>A c.12334G>A (p.Asp4112Asn) c.2387G>A c.12286G>A (p.Asp4096Asn) n.3529G>A c.12388G>A (p.Asp4130Asn) c.12385G>A (p.Asp4129Asn) c.12364G>A (p.Asp4122Asn) c.12358G>A (p.Asp4120Asn) c.12352G>A (p.Asp4118Asn) c.12328G>A (p.Asp4110Asn) c.12151G>A (p.Asp4051Asn) c.12295G>A (p.Asp4099Asn) c.12367G>A (p.Asp4123Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.237784046G>C | CA345412991 | RYR2 | c.*3426G>C (n.*3426G>C) c.12322G>C (p.Asp4108His) c.12355G>C (p.Asp4119His) c.4511G>C c.12334G>C (p.Asp4112His) c.2387G>C c.12286G>C (p.Asp4096His) n.3529G>C c.12388G>C (p.Asp4130His) c.12385G>C (p.Asp4129His) c.12364G>C (p.Asp4122His) c.12358G>C (p.Asp4120His) c.12352G>C (p.Asp4118His) c.12328G>C (p.Asp4110His) c.12151G>C (p.Asp4051His) c.12295G>C (p.Asp4099His) c.12367G>C (p.Asp4123His) | |
1 | g.237784046G= | CA2487482365 | RYR2 | c.*3426G= (n.*3426G=) c.12322G= (p.Asp4108=) c.12355G= (p.Asp4119=) c.4511G= c.12334G= (p.Asp4112=) c.2387G= c.12286G= (p.Asp4096=) n.3529G= c.12388G= (p.Asp4130=) c.12385G= (p.Asp4129=) c.12364G= (p.Asp4122=) c.12358G= (p.Asp4120=) c.12352G= (p.Asp4118=) c.12328G= (p.Asp4110=) c.12151G= (p.Asp4051=) c.12295G= (p.Asp4099=) c.12367G= (p.Asp4123=) | |
1 | g.237784046G>T | CA345412992 | RYR2 | c.*3426G>T (n.*3426G>T) c.12322G>T (p.Asp4108Tyr) c.12355G>T (p.Asp4119Tyr) c.4511G>T c.12334G>T (p.Asp4112Tyr) c.2387G>T c.12286G>T (p.Asp4096Tyr) n.3529G>T c.12388G>T (p.Asp4130Tyr) c.12385G>T (p.Asp4129Tyr) c.12364G>T (p.Asp4122Tyr) c.12358G>T (p.Asp4120Tyr) c.12352G>T (p.Asp4118Tyr) c.12328G>T (p.Asp4110Tyr) c.12151G>T (p.Asp4051Tyr) c.12295G>T (p.Asp4099Tyr) c.12367G>T (p.Asp4123Tyr) | |
1 | g.237784047A>C | CA345412993 | RYR2 | c.*3427A>C (n.*3427A>C) c.12323A>C (p.Asp4108Ala) c.12356A>C (p.Asp4119Ala) c.4512A>C c.12335A>C (p.Asp4112Ala) c.2388A>C c.12287A>C (p.Asp4096Ala) n.3530A>C c.12389A>C (p.Asp4130Ala) c.12386A>C (p.Asp4129Ala) c.12365A>C (p.Asp4122Ala) c.12359A>C (p.Asp4120Ala) c.12353A>C (p.Asp4118Ala) c.12329A>C (p.Asp4110Ala) c.12152A>C (p.Asp4051Ala) c.12296A>C (p.Asp4099Ala) c.12368A>C (p.Asp4123Ala) | |
1 | g.237784047A>G | CA345412994 | RYR2 | c.*3427A>G (n.*3427A>G) c.12323A>G (p.Asp4108Gly) c.12356A>G (p.Asp4119Gly) c.4512A>G c.12335A>G (p.Asp4112Gly) c.2388A>G c.12287A>G (p.Asp4096Gly) n.3530A>G c.12389A>G (p.Asp4130Gly) c.12386A>G (p.Asp4129Gly) c.12365A>G (p.Asp4122Gly) c.12359A>G (p.Asp4120Gly) c.12353A>G (p.Asp4118Gly) c.12329A>G (p.Asp4110Gly) c.12152A>G (p.Asp4051Gly) c.12296A>G (p.Asp4099Gly) c.12368A>G (p.Asp4123Gly) | |
1 | g.237784047A>T | CA345412995 | RYR2 | c.*3427A>T (n.*3427A>T) c.12323A>T (p.Asp4108Val) c.12356A>T (p.Asp4119Val) c.4512A>T c.12335A>T (p.Asp4112Val) c.2388A>T c.12287A>T (p.Asp4096Val) n.3530A>T c.12389A>T (p.Asp4130Val) c.12386A>T (p.Asp4129Val) c.12365A>T (p.Asp4122Val) c.12359A>T (p.Asp4120Val) c.12353A>T (p.Asp4118Val) c.12329A>T (p.Asp4110Val) c.12152A>T (p.Asp4051Val) c.12296A>T (p.Asp4099Val) c.12368A>T (p.Asp4123Val) | |
1 | g.237784048T>A | CA345412997 | RYR2 | c.*3428T>A (n.*3428T>A) c.12324T>A (p.Asp4108Glu) c.12357T>A (p.Asp4119Glu) c.4513T>A c.12336T>A (p.Asp4112Glu) c.2389T>A c.12288T>A (p.Asp4096Glu) n.3531T>A c.12390T>A (p.Asp4130Glu) c.12387T>A (p.Asp4129Glu) c.12366T>A (p.Asp4122Glu) c.12360T>A (p.Asp4120Glu) c.12354T>A (p.Asp4118Glu) c.12330T>A (p.Asp4110Glu) c.12153T>A (p.Asp4051Glu) c.12297T>A (p.Asp4099Glu) c.12369T>A (p.Asp4123Glu) | |
1 | g.237784048T>C | CA085171 | RYR2 | c.*3428T>C (n.*3428T>C) c.12324T>C (p.Asp4108=) c.12357T>C (p.Asp4119=) c.4513T>C c.12336T>C (p.Asp4112=) c.2389T>C c.12288T>C (p.Asp4096=) n.3531T>C c.12390T>C (p.Asp4130=) c.12387T>C (p.Asp4129=) c.12366T>C (p.Asp4122=) c.12360T>C (p.Asp4120=) c.12354T>C (p.Asp4118=) c.12330T>C (p.Asp4110=) c.12153T>C (p.Asp4051=) c.12297T>C (p.Asp4099=) c.12369T>C (p.Asp4123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784048T>G | CA345412996 | RYR2 | c.*3428T>G (n.*3428T>G) c.12324T>G (p.Asp4108Glu) c.12357T>G (p.Asp4119Glu) c.4513T>G c.12336T>G (p.Asp4112Glu) c.2389T>G c.12288T>G (p.Asp4096Glu) n.3531T>G c.12390T>G (p.Asp4130Glu) c.12387T>G (p.Asp4129Glu) c.12366T>G (p.Asp4122Glu) c.12360T>G (p.Asp4120Glu) c.12354T>G (p.Asp4118Glu) c.12330T>G (p.Asp4110Glu) c.12153T>G (p.Asp4051Glu) c.12297T>G (p.Asp4099Glu) c.12369T>G (p.Asp4123Glu) | |
1 | g.237784048T= | CA2487482366 | RYR2 | c.*3428T= (n.*3428T=) c.12324T= (p.Asp4108=) c.12357T= (p.Asp4119=) c.4513T= c.12336T= (p.Asp4112=) c.2389T= c.12288T= (p.Asp4096=) n.3531T= c.12390T= (p.Asp4130=) c.12387T= (p.Asp4129=) c.12366T= (p.Asp4122=) c.12360T= (p.Asp4120=) c.12354T= (p.Asp4118=) c.12330T= (p.Asp4110=) c.12153T= (p.Asp4051=) c.12297T= (p.Asp4099=) c.12369T= (p.Asp4123=) | |
1 | g.237784049A>C | CA345412998 | RYR2 | c.*3429A>C (n.*3429A>C) c.12325A>C (p.Thr4109Pro) c.12358A>C (p.Thr4120Pro) c.4514A>C c.12337A>C (p.Thr4113Pro) c.2390A>C c.12289A>C (p.Thr4097Pro) n.3532A>C c.12391A>C (p.Thr4131Pro) c.12388A>C (p.Thr4130Pro) c.12367A>C (p.Thr4123Pro) c.12361A>C (p.Thr4121Pro) c.12355A>C (p.Thr4119Pro) c.12331A>C (p.Thr4111Pro) c.12154A>C (p.Thr4052Pro) c.12298A>C (p.Thr4100Pro) c.12370A>C (p.Thr4124Pro) | |
1 | g.237784049A>G | CA345413000 | RYR2 | c.*3429A>G (n.*3429A>G) c.12325A>G (p.Thr4109Ala) c.12358A>G (p.Thr4120Ala) c.4514A>G c.12337A>G (p.Thr4113Ala) c.2390A>G c.12289A>G (p.Thr4097Ala) n.3532A>G c.12391A>G (p.Thr4131Ala) c.12388A>G (p.Thr4130Ala) c.12367A>G (p.Thr4123Ala) c.12361A>G (p.Thr4121Ala) c.12355A>G (p.Thr4119Ala) c.12331A>G (p.Thr4111Ala) c.12154A>G (p.Thr4052Ala) c.12298A>G (p.Thr4100Ala) c.12370A>G (p.Thr4124Ala) | |
1 | g.237784049A>T | CA345412999 | RYR2 | c.*3429A>T (n.*3429A>T) c.12325A>T (p.Thr4109Ser) c.12358A>T (p.Thr4120Ser) c.4514A>T c.12337A>T (p.Thr4113Ser) c.2390A>T c.12289A>T (p.Thr4097Ser) n.3532A>T c.12391A>T (p.Thr4131Ser) c.12388A>T (p.Thr4130Ser) c.12367A>T (p.Thr4123Ser) c.12361A>T (p.Thr4121Ser) c.12355A>T (p.Thr4119Ser) c.12331A>T (p.Thr4111Ser) c.12154A>T (p.Thr4052Ser) c.12298A>T (p.Thr4100Ser) c.12370A>T (p.Thr4124Ser) | |
1 | g.237784050C>A | CA345413001 | RYR2 | c.*3430C>A (n.*3430C>A) c.12326C>A (p.Thr4109Asn) c.12359C>A (p.Thr4120Asn) c.4515C>A c.12338C>A (p.Thr4113Asn) c.2391C>A c.12290C>A (p.Thr4097Asn) n.3533C>A c.12392C>A (p.Thr4131Asn) c.12389C>A (p.Thr4130Asn) c.12368C>A (p.Thr4123Asn) c.12362C>A (p.Thr4121Asn) c.12356C>A (p.Thr4119Asn) c.12332C>A (p.Thr4111Asn) c.12155C>A (p.Thr4052Asn) c.12299C>A (p.Thr4100Asn) c.12371C>A (p.Thr4124Asn) | |
1 | g.237784050C>G | CA345413002 | RYR2 | c.*3430C>G (n.*3430C>G) c.12326C>G (p.Thr4109Ser) c.12359C>G (p.Thr4120Ser) c.4515C>G c.12338C>G (p.Thr4113Ser) c.2391C>G c.12290C>G (p.Thr4097Ser) n.3533C>G c.12392C>G (p.Thr4131Ser) c.12389C>G (p.Thr4130Ser) c.12368C>G (p.Thr4123Ser) c.12362C>G (p.Thr4121Ser) c.12356C>G (p.Thr4119Ser) c.12332C>G (p.Thr4111Ser) c.12155C>G (p.Thr4052Ser) c.12299C>G (p.Thr4100Ser) c.12371C>G (p.Thr4124Ser) | |
1 | g.237784050C>T | CA345413003 | RYR2 | c.*3430C>T (n.*3430C>T) c.12326C>T (p.Thr4109Ile) c.12359C>T (p.Thr4120Ile) c.4515C>T c.12338C>T (p.Thr4113Ile) c.2391C>T c.12290C>T (p.Thr4097Ile) n.3533C>T c.12392C>T (p.Thr4131Ile) c.12389C>T (p.Thr4130Ile) c.12368C>T (p.Thr4123Ile) c.12362C>T (p.Thr4121Ile) c.12356C>T (p.Thr4119Ile) c.12332C>T (p.Thr4111Ile) c.12155C>T (p.Thr4052Ile) c.12299C>T (p.Thr4100Ile) c.12371C>T (p.Thr4124Ile) | |
1 | g.237784051C>A | CA424032168 | RYR2 | c.*3431C>A (n.*3431C>A) c.12327C>A (p.Thr4109=) c.12360C>A (p.Thr4120=) c.4516C>A c.12339C>A (p.Thr4113=) c.2392C>A c.12291C>A (p.Thr4097=) n.3534C>A c.12393C>A (p.Thr4131=) c.12390C>A (p.Thr4130=) c.12369C>A (p.Thr4123=) c.12363C>A (p.Thr4121=) c.12357C>A (p.Thr4119=) c.12333C>A (p.Thr4111=) c.12156C>A (p.Thr4052=) c.12300C>A (p.Thr4100=) c.12372C>A (p.Thr4124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784051C= | CA2487482367 | RYR2 | c.*3431C= (n.*3431C=) c.12327C= (p.Thr4109=) c.12360C= (p.Thr4120=) c.4516C= c.12339C= (p.Thr4113=) c.2392C= c.12291C= (p.Thr4097=) n.3534C= c.12393C= (p.Thr4131=) c.12390C= (p.Thr4130=) c.12369C= (p.Thr4123=) c.12363C= (p.Thr4121=) c.12357C= (p.Thr4119=) c.12333C= (p.Thr4111=) c.12156C= (p.Thr4052=) c.12300C= (p.Thr4100=) c.12372C= (p.Thr4124=) | |
1 | g.237784051C>G | CA424032167 | RYR2 | c.*3431C>G (n.*3431C>G) c.12327C>G (p.Thr4109=) c.12360C>G (p.Thr4120=) c.4516C>G c.12339C>G (p.Thr4113=) c.2392C>G c.12291C>G (p.Thr4097=) n.3534C>G c.12393C>G (p.Thr4131=) c.12390C>G (p.Thr4130=) c.12369C>G (p.Thr4123=) c.12363C>G (p.Thr4121=) c.12357C>G (p.Thr4119=) c.12333C>G (p.Thr4111=) c.12156C>G (p.Thr4052=) c.12300C>G (p.Thr4100=) c.12372C>G (p.Thr4124=) | |
1 | g.237784051C>T | CA424032166 | RYR2 | c.*3431C>T (n.*3431C>T) c.12327C>T (p.Thr4109=) c.12360C>T (p.Thr4120=) c.4516C>T c.12339C>T (p.Thr4113=) c.2392C>T c.12291C>T (p.Thr4097=) n.3534C>T c.12393C>T (p.Thr4131=) c.12390C>T (p.Thr4130=) c.12369C>T (p.Thr4123=) c.12363C>T (p.Thr4121=) c.12357C>T (p.Thr4119=) c.12333C>T (p.Thr4111=) c.12156C>T (p.Thr4052=) c.12300C>T (p.Thr4100=) c.12372C>T (p.Thr4124=) | gnomAD v4 |
1 | g.237784052C>A | CA424032169 | RYR2 | c.*3432C>A (n.*3432C>A) c.12328C>A (p.Arg4110=) c.12361C>A (p.Arg4121=) c.4517C>A c.12340C>A (p.Arg4114=) c.2393C>A c.12292C>A (p.Arg4098=) n.3535C>A c.12394C>A (p.Arg4132=) c.12391C>A (p.Arg4131=) c.12370C>A (p.Arg4124=) c.12364C>A (p.Arg4122=) c.12358C>A (p.Arg4120=) c.12334C>A (p.Arg4112=) c.12157C>A (p.Arg4053=) c.12301C>A (p.Arg4101=) c.12373C>A (p.Arg4125=) | |
1 | g.237784052C= | CA2487482368 | RYR2 | c.*3432C= (n.*3432C=) c.12328C= (p.Arg4110=) c.12361C= (p.Arg4121=) c.4517C= c.12340C= (p.Arg4114=) c.2393C= c.12292C= (p.Arg4098=) n.3535C= c.12394C= (p.Arg4132=) c.12391C= (p.Arg4131=) c.12370C= (p.Arg4124=) c.12364C= (p.Arg4122=) c.12358C= (p.Arg4120=) c.12334C= (p.Arg4112=) c.12157C= (p.Arg4053=) c.12301C= (p.Arg4101=) c.12373C= (p.Arg4125=) | |
1 | g.237784052C>G | CA345413004 | RYR2 | c.*3432C>G (n.*3432C>G) c.12328C>G (p.Arg4110Gly) c.12361C>G (p.Arg4121Gly) c.4517C>G c.12340C>G (p.Arg4114Gly) c.2393C>G c.12292C>G (p.Arg4098Gly) n.3535C>G c.12394C>G (p.Arg4132Gly) c.12391C>G (p.Arg4131Gly) c.12370C>G (p.Arg4124Gly) c.12364C>G (p.Arg4122Gly) c.12358C>G (p.Arg4120Gly) c.12334C>G (p.Arg4112Gly) c.12157C>G (p.Arg4053Gly) c.12301C>G (p.Arg4101Gly) c.12373C>G (p.Arg4125Gly) | ClinVar |
1 | g.237784052C>T | CA345413005 | RYR2 | c.*3432C>T (n.*3432C>T) c.12328C>T (p.Arg4110Ter) c.12361C>T (p.Arg4121Ter) c.4517C>T c.12340C>T (p.Arg4114Ter) c.2393C>T c.12292C>T (p.Arg4098Ter) n.3535C>T c.12394C>T (p.Arg4132Ter) c.12391C>T (p.Arg4131Ter) c.12370C>T (p.Arg4124Ter) c.12364C>T (p.Arg4122Ter) c.12358C>T (p.Arg4120Ter) c.12334C>T (p.Arg4112Ter) c.12157C>T (p.Arg4053Ter) c.12301C>T (p.Arg4101Ter) c.12373C>T (p.Arg4125Ter) | ClinVar dbSNP gnomAD v2 |
1 | g.237784053G>A | CA345413006 | RYR2 | c.*3433G>A (n.*3433G>A) c.12329G>A (p.Arg4110Gln) c.12362G>A (p.Arg4121Gln) c.4518G>A c.12341G>A (p.Arg4114Gln) c.2394G>A c.12293G>A (p.Arg4098Gln) n.3536G>A c.12395G>A (p.Arg4132Gln) c.12392G>A (p.Arg4131Gln) c.12371G>A (p.Arg4124Gln) c.12365G>A (p.Arg4122Gln) c.12359G>A (p.Arg4120Gln) c.12335G>A (p.Arg4112Gln) c.12158G>A (p.Arg4053Gln) c.12302G>A (p.Arg4101Gln) c.12374G>A (p.Arg4125Gln) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.237784053G>C | CA345413007 | RYR2 | c.*3433G>C (n.*3433G>C) c.12329G>C (p.Arg4110Pro) c.12362G>C (p.Arg4121Pro) c.4518G>C c.12341G>C (p.Arg4114Pro) c.2394G>C c.12293G>C (p.Arg4098Pro) n.3536G>C c.12395G>C (p.Arg4132Pro) c.12392G>C (p.Arg4131Pro) c.12371G>C (p.Arg4124Pro) c.12365G>C (p.Arg4122Pro) c.12359G>C (p.Arg4120Pro) c.12335G>C (p.Arg4112Pro) c.12158G>C (p.Arg4053Pro) c.12302G>C (p.Arg4101Pro) c.12374G>C (p.Arg4125Pro) | |
1 | g.237784053G= | CA2487482369 | RYR2 | c.*3433G= (n.*3433G=) c.12329G= (p.Arg4110=) c.12362G= (p.Arg4121=) c.4518G= c.12341G= (p.Arg4114=) c.2394G= c.12293G= (p.Arg4098=) n.3536G= c.12395G= (p.Arg4132=) c.12392G= (p.Arg4131=) c.12371G= (p.Arg4124=) c.12365G= (p.Arg4122=) c.12359G= (p.Arg4120=) c.12335G= (p.Arg4112=) c.12158G= (p.Arg4053=) c.12302G= (p.Arg4101=) c.12374G= (p.Arg4125=) | |
1 | g.237784053G>T | CA345413008 | RYR2 | c.*3433G>T (n.*3433G>T) c.12329G>T (p.Arg4110Leu) c.12362G>T (p.Arg4121Leu) c.4518G>T c.12341G>T (p.Arg4114Leu) c.2394G>T c.12293G>T (p.Arg4098Leu) n.3536G>T c.12395G>T (p.Arg4132Leu) c.12392G>T (p.Arg4131Leu) c.12371G>T (p.Arg4124Leu) c.12365G>T (p.Arg4122Leu) c.12359G>T (p.Arg4120Leu) c.12335G>T (p.Arg4112Leu) c.12158G>T (p.Arg4053Leu) c.12302G>T (p.Arg4101Leu) c.12374G>T (p.Arg4125Leu) | |
1 | g.237784054A>C | CA424032172 | RYR2 | c.*3434A>C (n.*3434A>C) c.12330A>C (p.Arg4110=) c.12363A>C (p.Arg4121=) c.4519A>C c.12342A>C (p.Arg4114=) c.2395A>C c.12294A>C (p.Arg4098=) n.3537A>C c.12396A>C (p.Arg4132=) c.12393A>C (p.Arg4131=) c.12372A>C (p.Arg4124=) c.12366A>C (p.Arg4122=) c.12360A>C (p.Arg4120=) c.12336A>C (p.Arg4112=) c.12159A>C (p.Arg4053=) c.12303A>C (p.Arg4101=) c.12375A>C (p.Arg4125=) | |
1 | g.237784054A>G | CA424032175 | RYR2 | c.*3434A>G (n.*3434A>G) c.12330A>G (p.Arg4110=) c.12363A>G (p.Arg4121=) c.4519A>G c.12342A>G (p.Arg4114=) c.2395A>G c.12294A>G (p.Arg4098=) n.3537A>G c.12396A>G (p.Arg4132=) c.12393A>G (p.Arg4131=) c.12372A>G (p.Arg4124=) c.12366A>G (p.Arg4122=) c.12360A>G (p.Arg4120=) c.12336A>G (p.Arg4112=) c.12159A>G (p.Arg4053=) c.12303A>G (p.Arg4101=) c.12375A>G (p.Arg4125=) | gnomAD v4 |
1 | g.237784054A>T | CA424032174 | RYR2 | c.*3434A>T (n.*3434A>T) c.12330A>T (p.Arg4110=) c.12363A>T (p.Arg4121=) c.4519A>T c.12342A>T (p.Arg4114=) c.2395A>T c.12294A>T (p.Arg4098=) n.3537A>T c.12396A>T (p.Arg4132=) c.12393A>T (p.Arg4131=) c.12372A>T (p.Arg4124=) c.12366A>T (p.Arg4122=) c.12360A>T (p.Arg4120=) c.12336A>T (p.Arg4112=) c.12159A>T (p.Arg4053=) c.12303A>T (p.Arg4101=) c.12375A>T (p.Arg4125=) | |
1 | g.237784055C>A | CA345413009 | RYR2 | c.*3435C>A (n.*3435C>A) c.12331C>A (p.Leu4111Ile) c.12364C>A (p.Leu4122Ile) c.4520C>A c.12343C>A (p.Leu4115Ile) c.2396C>A c.12295C>A (p.Leu4099Ile) n.3538C>A c.12397C>A (p.Leu4133Ile) c.12394C>A (p.Leu4132Ile) c.12373C>A (p.Leu4125Ile) c.12367C>A (p.Leu4123Ile) c.12361C>A (p.Leu4121Ile) c.12337C>A (p.Leu4113Ile) c.12160C>A (p.Leu4054Ile) c.12304C>A (p.Leu4102Ile) c.12376C>A (p.Leu4126Ile) | |
1 | g.237784055C= | CA2487482370 | RYR2 | c.*3435C= (n.*3435C=) c.12331C= (p.Leu4111=) c.12364C= (p.Leu4122=) c.4520C= c.12343C= (p.Leu4115=) c.2396C= c.12295C= (p.Leu4099=) n.3538C= c.12397C= (p.Leu4133=) c.12394C= (p.Leu4132=) c.12373C= (p.Leu4125=) c.12367C= (p.Leu4123=) c.12361C= (p.Leu4121=) c.12337C= (p.Leu4113=) c.12160C= (p.Leu4054=) c.12304C= (p.Leu4102=) c.12376C= (p.Leu4126=) | |
1 | g.237784055C>G | CA345413010 | RYR2 | c.*3435C>G (n.*3435C>G) c.12331C>G (p.Leu4111Val) c.12364C>G (p.Leu4122Val) c.4520C>G c.12343C>G (p.Leu4115Val) c.2396C>G c.12295C>G (p.Leu4099Val) n.3538C>G c.12397C>G (p.Leu4133Val) c.12394C>G (p.Leu4132Val) c.12373C>G (p.Leu4125Val) c.12367C>G (p.Leu4123Val) c.12361C>G (p.Leu4121Val) c.12337C>G (p.Leu4113Val) c.12160C>G (p.Leu4054Val) c.12304C>G (p.Leu4102Val) c.12376C>G (p.Leu4126Val) | |
1 | g.237784055C>T | CA345413011 | RYR2 | c.*3435C>T (n.*3435C>T) c.12331C>T (p.Leu4111Phe) c.12364C>T (p.Leu4122Phe) c.4520C>T c.12343C>T (p.Leu4115Phe) c.2396C>T c.12295C>T (p.Leu4099Phe) n.3538C>T c.12397C>T (p.Leu4133Phe) c.12394C>T (p.Leu4132Phe) c.12373C>T (p.Leu4125Phe) c.12367C>T (p.Leu4123Phe) c.12361C>T (p.Leu4121Phe) c.12337C>T (p.Leu4113Phe) c.12160C>T (p.Leu4054Phe) c.12304C>T (p.Leu4102Phe) c.12376C>T (p.Leu4126Phe) | ClinVar dbSNP |
1 | g.237784056T>A | CA345413014 | RYR2 | c.*3436T>A (n.*3436T>A) c.12332T>A (p.Leu4111His) c.12365T>A (p.Leu4122His) c.4521T>A c.12344T>A (p.Leu4115His) c.2397T>A c.12296T>A (p.Leu4099His) n.3539T>A c.12398T>A (p.Leu4133His) c.12395T>A (p.Leu4132His) c.12374T>A (p.Leu4125His) c.12368T>A (p.Leu4123His) c.12362T>A (p.Leu4121His) c.12338T>A (p.Leu4113His) c.12161T>A (p.Leu4054His) c.12305T>A (p.Leu4102His) c.12377T>A (p.Leu4126His) | |
1 | g.237784056T>C | CA345413012 | RYR2 | c.*3436T>C (n.*3436T>C) c.12332T>C (p.Leu4111Pro) c.12365T>C (p.Leu4122Pro) c.4521T>C c.12344T>C (p.Leu4115Pro) c.2397T>C c.12296T>C (p.Leu4099Pro) n.3539T>C c.12398T>C (p.Leu4133Pro) c.12395T>C (p.Leu4132Pro) c.12374T>C (p.Leu4125Pro) c.12368T>C (p.Leu4123Pro) c.12362T>C (p.Leu4121Pro) c.12338T>C (p.Leu4113Pro) c.12161T>C (p.Leu4054Pro) c.12305T>C (p.Leu4102Pro) c.12377T>C (p.Leu4126Pro) | |
1 | g.237784056T>G | CA345413013 | RYR2 | c.*3436T>G (n.*3436T>G) c.12332T>G (p.Leu4111Arg) c.12365T>G (p.Leu4122Arg) c.4521T>G c.12344T>G (p.Leu4115Arg) c.2397T>G c.12296T>G (p.Leu4099Arg) n.3539T>G c.12398T>G (p.Leu4133Arg) c.12395T>G (p.Leu4132Arg) c.12374T>G (p.Leu4125Arg) c.12368T>G (p.Leu4123Arg) c.12362T>G (p.Leu4121Arg) c.12338T>G (p.Leu4113Arg) c.12161T>G (p.Leu4054Arg) c.12305T>G (p.Leu4102Arg) c.12377T>G (p.Leu4126Arg) | ClinVar |
1 | g.237784057T>A | CA424032178 | RYR2 | c.*3437T>A (n.*3437T>A) c.12333T>A (p.Leu4111=) c.12366T>A (p.Leu4122=) c.4522T>A c.12345T>A (p.Leu4115=) c.2398T>A c.12297T>A (p.Leu4099=) n.3540T>A c.12399T>A (p.Leu4133=) c.12396T>A (p.Leu4132=) c.12375T>A (p.Leu4125=) c.12369T>A (p.Leu4123=) c.12363T>A (p.Leu4121=) c.12339T>A (p.Leu4113=) c.12162T>A (p.Leu4054=) c.12306T>A (p.Leu4102=) c.12378T>A (p.Leu4126=) | |
1 | g.237784057T>C | CA424032179 | RYR2 | c.*3437T>C (n.*3437T>C) c.12333T>C (p.Leu4111=) c.12366T>C (p.Leu4122=) c.4522T>C c.12345T>C (p.Leu4115=) c.2398T>C c.12297T>C (p.Leu4099=) n.3540T>C c.12399T>C (p.Leu4133=) c.12396T>C (p.Leu4132=) c.12375T>C (p.Leu4125=) c.12369T>C (p.Leu4123=) c.12363T>C (p.Leu4121=) c.12339T>C (p.Leu4113=) c.12162T>C (p.Leu4054=) c.12306T>C (p.Leu4102=) c.12378T>C (p.Leu4126=) | |
1 | g.237784057T>G | CA424032180 | RYR2 | c.*3437T>G (n.*3437T>G) c.12333T>G (p.Leu4111=) c.12366T>G (p.Leu4122=) c.4522T>G c.12345T>G (p.Leu4115=) c.2398T>G c.12297T>G (p.Leu4099=) n.3540T>G c.12399T>G (p.Leu4133=) c.12396T>G (p.Leu4132=) c.12375T>G (p.Leu4125=) c.12369T>G (p.Leu4123=) c.12363T>G (p.Leu4121=) c.12339T>G (p.Leu4113=) c.12162T>G (p.Leu4054=) c.12306T>G (p.Leu4102=) c.12378T>G (p.Leu4126=) | |
1 | g.237784058C>A | CA345413015 | RYR2 | c.*3438C>A (n.*3438C>A) c.12334C>A (p.Gln4112Lys) c.12367C>A (p.Gln4123Lys) c.4523C>A c.12346C>A (p.Gln4116Lys) c.2399C>A c.12298C>A (p.Gln4100Lys) n.3541C>A c.12400C>A (p.Gln4134Lys) c.12397C>A (p.Gln4133Lys) c.12376C>A (p.Gln4126Lys) c.12370C>A (p.Gln4124Lys) c.12364C>A (p.Gln4122Lys) c.12340C>A (p.Gln4114Lys) c.12163C>A (p.Gln4055Lys) c.12307C>A (p.Gln4103Lys) c.12379C>A (p.Gln4127Lys) | |
1 | g.237784058C>G | CA345413016 | RYR2 | c.*3438C>G (n.*3438C>G) c.12334C>G (p.Gln4112Glu) c.12367C>G (p.Gln4123Glu) c.4523C>G c.12346C>G (p.Gln4116Glu) c.2399C>G c.12298C>G (p.Gln4100Glu) n.3541C>G c.12400C>G (p.Gln4134Glu) c.12397C>G (p.Gln4133Glu) c.12376C>G (p.Gln4126Glu) c.12370C>G (p.Gln4124Glu) c.12364C>G (p.Gln4122Glu) c.12340C>G (p.Gln4114Glu) c.12163C>G (p.Gln4055Glu) c.12307C>G (p.Gln4103Glu) c.12379C>G (p.Gln4127Glu) | |
1 | g.237784058C>T | CA345413017 | RYR2 | c.*3438C>T (n.*3438C>T) c.12334C>T (p.Gln4112Ter) c.12367C>T (p.Gln4123Ter) c.4523C>T c.12346C>T (p.Gln4116Ter) c.2399C>T c.12298C>T (p.Gln4100Ter) n.3541C>T c.12400C>T (p.Gln4134Ter) c.12397C>T (p.Gln4133Ter) c.12376C>T (p.Gln4126Ter) c.12370C>T (p.Gln4124Ter) c.12364C>T (p.Gln4122Ter) c.12340C>T (p.Gln4114Ter) c.12163C>T (p.Gln4055Ter) c.12307C>T (p.Gln4103Ter) c.12379C>T (p.Gln4127Ter) | |
1 | g.237784059A= | CA2487482371 | RYR2 | c.*3439A= (n.*3439A=) c.12335A= (p.Gln4112=) c.12368A= (p.Gln4123=) c.4524A= c.12347A= (p.Gln4116=) c.2400A= c.12299A= (p.Gln4100=) n.3542A= c.12401A= (p.Gln4134=) c.12398A= (p.Gln4133=) c.12377A= (p.Gln4126=) c.12371A= (p.Gln4124=) c.12365A= (p.Gln4122=) c.12341A= (p.Gln4114=) c.12164A= (p.Gln4055=) c.12308A= (p.Gln4103=) c.12380A= (p.Gln4127=) | |
1 | g.237784059A>C | CA345413018 | RYR2 | c.*3439A>C (n.*3439A>C) c.12335A>C (p.Gln4112Pro) c.12368A>C (p.Gln4123Pro) c.4524A>C c.12347A>C (p.Gln4116Pro) c.2400A>C c.12299A>C (p.Gln4100Pro) n.3542A>C c.12401A>C (p.Gln4134Pro) c.12398A>C (p.Gln4133Pro) c.12377A>C (p.Gln4126Pro) c.12371A>C (p.Gln4124Pro) c.12365A>C (p.Gln4122Pro) c.12341A>C (p.Gln4114Pro) c.12164A>C (p.Gln4055Pro) c.12308A>C (p.Gln4103Pro) c.12380A>C (p.Gln4127Pro) | |
1 | g.237784059A>G | CA345413019 | RYR2 | c.*3439A>G (n.*3439A>G) c.12335A>G (p.Gln4112Arg) c.12368A>G (p.Gln4123Arg) c.4524A>G c.12347A>G (p.Gln4116Arg) c.2400A>G c.12299A>G (p.Gln4100Arg) n.3542A>G c.12401A>G (p.Gln4134Arg) c.12398A>G (p.Gln4133Arg) c.12377A>G (p.Gln4126Arg) c.12371A>G (p.Gln4124Arg) c.12365A>G (p.Gln4122Arg) c.12341A>G (p.Gln4114Arg) c.12164A>G (p.Gln4055Arg) c.12308A>G (p.Gln4103Arg) c.12380A>G (p.Gln4127Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784059A>T | CA345413020 | RYR2 | c.*3439A>T (n.*3439A>T) c.12335A>T (p.Gln4112Leu) c.12368A>T (p.Gln4123Leu) c.4524A>T c.12347A>T (p.Gln4116Leu) c.2400A>T c.12299A>T (p.Gln4100Leu) n.3542A>T c.12401A>T (p.Gln4134Leu) c.12398A>T (p.Gln4133Leu) c.12377A>T (p.Gln4126Leu) c.12371A>T (p.Gln4124Leu) c.12365A>T (p.Gln4122Leu) c.12341A>T (p.Gln4114Leu) c.12164A>T (p.Gln4055Leu) c.12308A>T (p.Gln4103Leu) c.12380A>T (p.Gln4127Leu) | |
1 | g.237784060G>A | CA424032182 | RYR2 | c.*3440G>A (n.*3440G>A) c.12336G>A (p.Gln4112=) c.12369G>A (p.Gln4123=) c.4525G>A c.12348G>A (p.Gln4116=) c.2401G>A c.12300G>A (p.Gln4100=) n.3543G>A c.12402G>A (p.Gln4134=) c.12399G>A (p.Gln4133=) c.12378G>A (p.Gln4126=) c.12372G>A (p.Gln4124=) c.12366G>A (p.Gln4122=) c.12342G>A (p.Gln4114=) c.12165G>A (p.Gln4055=) c.12309G>A (p.Gln4103=) c.12381G>A (p.Gln4127=) | |
1 | g.237784060G>C | CA345413021 | RYR2 | c.*3440G>C (n.*3440G>C) c.12336G>C (p.Gln4112His) c.12369G>C (p.Gln4123His) c.4525G>C c.12348G>C (p.Gln4116His) c.2401G>C c.12300G>C (p.Gln4100His) n.3543G>C c.12402G>C (p.Gln4134His) c.12399G>C (p.Gln4133His) c.12378G>C (p.Gln4126His) c.12372G>C (p.Gln4124His) c.12366G>C (p.Gln4122His) c.12342G>C (p.Gln4114His) c.12165G>C (p.Gln4055His) c.12309G>C (p.Gln4103His) c.12381G>C (p.Gln4127His) | |
1 | g.237784060G>T | CA345413022 | RYR2 | c.*3440G>T (n.*3440G>T) c.12336G>T (p.Gln4112His) c.12369G>T (p.Gln4123His) c.4525G>T c.12348G>T (p.Gln4116His) c.2401G>T c.12300G>T (p.Gln4100His) n.3543G>T c.12402G>T (p.Gln4134His) c.12399G>T (p.Gln4133His) c.12378G>T (p.Gln4126His) c.12372G>T (p.Gln4124His) c.12366G>T (p.Gln4122His) c.12342G>T (p.Gln4114His) c.12165G>T (p.Gln4055His) c.12309G>T (p.Gln4103His) c.12381G>T (p.Gln4127His) | ClinVar dbSNP |
1 | g.237784061A>C | CA345413023 | RYR2 | c.*3441A>C (n.*3441A>C) c.12337A>C (p.Thr4113Pro) c.12370A>C (p.Thr4124Pro) c.4526A>C c.12349A>C (p.Thr4117Pro) c.2402A>C c.12301A>C (p.Thr4101Pro) n.3544A>C c.12403A>C (p.Thr4135Pro) c.12400A>C (p.Thr4134Pro) c.12379A>C (p.Thr4127Pro) c.12373A>C (p.Thr4125Pro) c.12367A>C (p.Thr4123Pro) c.12343A>C (p.Thr4115Pro) c.12166A>C (p.Thr4056Pro) c.12310A>C (p.Thr4104Pro) c.12382A>C (p.Thr4128Pro) | |
1 | g.237784061A>G | CA345413024 | RYR2 | c.*3441A>G (n.*3441A>G) c.12337A>G (p.Thr4113Ala) c.12370A>G (p.Thr4124Ala) c.4526A>G c.12349A>G (p.Thr4117Ala) c.2402A>G c.12301A>G (p.Thr4101Ala) n.3544A>G c.12403A>G (p.Thr4135Ala) c.12400A>G (p.Thr4134Ala) c.12379A>G (p.Thr4127Ala) c.12373A>G (p.Thr4125Ala) c.12367A>G (p.Thr4123Ala) c.12343A>G (p.Thr4115Ala) c.12166A>G (p.Thr4056Ala) c.12310A>G (p.Thr4104Ala) c.12382A>G (p.Thr4128Ala) | |
1 | g.237784061A>T | CA345413025 | RYR2 | c.*3441A>T (n.*3441A>T) c.12337A>T (p.Thr4113Ser) c.12370A>T (p.Thr4124Ser) c.4526A>T c.12349A>T (p.Thr4117Ser) c.2402A>T c.12301A>T (p.Thr4101Ser) n.3544A>T c.12403A>T (p.Thr4135Ser) c.12400A>T (p.Thr4134Ser) c.12379A>T (p.Thr4127Ser) c.12373A>T (p.Thr4125Ser) c.12367A>T (p.Thr4123Ser) c.12343A>T (p.Thr4115Ser) c.12166A>T (p.Thr4056Ser) c.12310A>T (p.Thr4104Ser) c.12382A>T (p.Thr4128Ser) | |
1 | g.237784062C>A | CA345413027 | RYR2 | c.*3442C>A (n.*3442C>A) c.12338C>A (p.Thr4113Asn) c.12371C>A (p.Thr4124Asn) c.4527C>A c.12350C>A (p.Thr4117Asn) c.2403C>A c.12302C>A (p.Thr4101Asn) n.3545C>A c.12404C>A (p.Thr4135Asn) c.12401C>A (p.Thr4134Asn) c.12380C>A (p.Thr4127Asn) c.12374C>A (p.Thr4125Asn) c.12368C>A (p.Thr4123Asn) c.12344C>A (p.Thr4115Asn) c.12167C>A (p.Thr4056Asn) c.12311C>A (p.Thr4104Asn) c.12383C>A (p.Thr4128Asn) | COSMIC COSMIC |
1 | g.237784062C>G | CA345413028 | RYR2 | c.*3442C>G (n.*3442C>G) c.12338C>G (p.Thr4113Ser) c.12371C>G (p.Thr4124Ser) c.4527C>G c.12350C>G (p.Thr4117Ser) c.2403C>G c.12302C>G (p.Thr4101Ser) n.3545C>G c.12404C>G (p.Thr4135Ser) c.12401C>G (p.Thr4134Ser) c.12380C>G (p.Thr4127Ser) c.12374C>G (p.Thr4125Ser) c.12368C>G (p.Thr4123Ser) c.12344C>G (p.Thr4115Ser) c.12167C>G (p.Thr4056Ser) c.12311C>G (p.Thr4104Ser) c.12383C>G (p.Thr4128Ser) | |
1 | g.237784062C>T | CA345413026 | RYR2 | c.*3442C>T (n.*3442C>T) c.12338C>T (p.Thr4113Ile) c.12371C>T (p.Thr4124Ile) c.4527C>T c.12350C>T (p.Thr4117Ile) c.2403C>T c.12302C>T (p.Thr4101Ile) n.3545C>T c.12404C>T (p.Thr4135Ile) c.12401C>T (p.Thr4134Ile) c.12380C>T (p.Thr4127Ile) c.12374C>T (p.Thr4125Ile) c.12368C>T (p.Thr4123Ile) c.12344C>T (p.Thr4115Ile) c.12167C>T (p.Thr4056Ile) c.12311C>T (p.Thr4104Ile) c.12383C>T (p.Thr4128Ile) | |
1 | g.237784063T>A | CA424032186 | RYR2 | c.*3443T>A (n.*3443T>A) c.12339T>A (p.Thr4113=) c.12372T>A (p.Thr4124=) c.4528T>A c.12351T>A (p.Thr4117=) c.2404T>A c.12303T>A (p.Thr4101=) n.3546T>A c.12405T>A (p.Thr4135=) c.12402T>A (p.Thr4134=) c.12381T>A (p.Thr4127=) c.12375T>A (p.Thr4125=) c.12369T>A (p.Thr4123=) c.12345T>A (p.Thr4115=) c.12168T>A (p.Thr4056=) c.12312T>A (p.Thr4104=) c.12384T>A (p.Thr4128=) | |
1 | g.237784063T>C | CA424032188 | RYR2 | c.*3443T>C (n.*3443T>C) c.12339T>C (p.Thr4113=) c.12372T>C (p.Thr4124=) c.4528T>C c.12351T>C (p.Thr4117=) c.2404T>C c.12303T>C (p.Thr4101=) n.3546T>C c.12405T>C (p.Thr4135=) c.12402T>C (p.Thr4134=) c.12381T>C (p.Thr4127=) c.12375T>C (p.Thr4125=) c.12369T>C (p.Thr4123=) c.12345T>C (p.Thr4115=) c.12168T>C (p.Thr4056=) c.12312T>C (p.Thr4104=) c.12384T>C (p.Thr4128=) | gnomAD v4 |
1 | g.237784063T>G | CA424032189 | RYR2 | c.*3443T>G (n.*3443T>G) c.12339T>G (p.Thr4113=) c.12372T>G (p.Thr4124=) c.4528T>G c.12351T>G (p.Thr4117=) c.2404T>G c.12303T>G (p.Thr4101=) n.3546T>G c.12405T>G (p.Thr4135=) c.12402T>G (p.Thr4134=) c.12381T>G (p.Thr4127=) c.12375T>G (p.Thr4125=) c.12369T>G (p.Thr4123=) c.12345T>G (p.Thr4115=) c.12168T>G (p.Thr4056=) c.12312T>G (p.Thr4104=) c.12384T>G (p.Thr4128=) | |
1 | g.237784064T>A | CA345413029 | RYR2 | c.*3444T>A (n.*3444T>A) c.12340T>A (p.Phe4114Ile) c.12373T>A (p.Phe4125Ile) c.4529T>A c.12352T>A (p.Phe4118Ile) c.2405T>A c.12304T>A (p.Phe4102Ile) n.3547T>A c.12406T>A (p.Phe4136Ile) c.12403T>A (p.Phe4135Ile) c.12382T>A (p.Phe4128Ile) c.12376T>A (p.Phe4126Ile) c.12370T>A (p.Phe4124Ile) c.12346T>A (p.Phe4116Ile) c.12169T>A (p.Phe4057Ile) c.12313T>A (p.Phe4105Ile) c.12385T>A (p.Phe4129Ile) | |
1 | g.237784064T>C | CA345413030 | RYR2 | c.*3444T>C (n.*3444T>C) c.12340T>C (p.Phe4114Leu) c.12373T>C (p.Phe4125Leu) c.4529T>C c.12352T>C (p.Phe4118Leu) c.2405T>C c.12304T>C (p.Phe4102Leu) n.3547T>C c.12406T>C (p.Phe4136Leu) c.12403T>C (p.Phe4135Leu) c.12382T>C (p.Phe4128Leu) c.12376T>C (p.Phe4126Leu) c.12370T>C (p.Phe4124Leu) c.12346T>C (p.Phe4116Leu) c.12169T>C (p.Phe4057Leu) c.12313T>C (p.Phe4105Leu) c.12385T>C (p.Phe4129Leu) | |
1 | g.237784064T>G | CA345413031 | RYR2 | c.*3444T>G (n.*3444T>G) c.12340T>G (p.Phe4114Val) c.12373T>G (p.Phe4125Val) c.4529T>G c.12352T>G (p.Phe4118Val) c.2405T>G c.12304T>G (p.Phe4102Val) n.3547T>G c.12406T>G (p.Phe4136Val) c.12403T>G (p.Phe4135Val) c.12382T>G (p.Phe4128Val) c.12376T>G (p.Phe4126Val) c.12370T>G (p.Phe4124Val) c.12346T>G (p.Phe4116Val) c.12169T>G (p.Phe4057Val) c.12313T>G (p.Phe4105Val) c.12385T>G (p.Phe4129Val) | |
1 | g.237784065T>A | CA345413032 | RYR2 | c.*3445T>A (n.*3445T>A) c.12341T>A (p.Phe4114Tyr) c.12374T>A (p.Phe4125Tyr) c.4530T>A c.12353T>A (p.Phe4118Tyr) c.2406T>A c.12305T>A (p.Phe4102Tyr) n.3548T>A c.12407T>A (p.Phe4136Tyr) c.12404T>A (p.Phe4135Tyr) c.12383T>A (p.Phe4128Tyr) c.12377T>A (p.Phe4126Tyr) c.12371T>A (p.Phe4124Tyr) c.12347T>A (p.Phe4116Tyr) c.12170T>A (p.Phe4057Tyr) c.12314T>A (p.Phe4105Tyr) c.12386T>A (p.Phe4129Tyr) | |
1 | g.237784065T>C | CA345413033 | RYR2 | c.*3445T>C (n.*3445T>C) c.12341T>C (p.Phe4114Ser) c.12374T>C (p.Phe4125Ser) c.4530T>C c.12353T>C (p.Phe4118Ser) c.2406T>C c.12305T>C (p.Phe4102Ser) n.3548T>C c.12407T>C (p.Phe4136Ser) c.12404T>C (p.Phe4135Ser) c.12383T>C (p.Phe4128Ser) c.12377T>C (p.Phe4126Ser) c.12371T>C (p.Phe4124Ser) c.12347T>C (p.Phe4116Ser) c.12170T>C (p.Phe4057Ser) c.12314T>C (p.Phe4105Ser) c.12386T>C (p.Phe4129Ser) | |
1 | g.237784065T>G | CA345413034 | RYR2 | c.*3445T>G (n.*3445T>G) c.12341T>G (p.Phe4114Cys) c.12374T>G (p.Phe4125Cys) c.4530T>G c.12353T>G (p.Phe4118Cys) c.2406T>G c.12305T>G (p.Phe4102Cys) n.3548T>G c.12407T>G (p.Phe4136Cys) c.12404T>G (p.Phe4135Cys) c.12383T>G (p.Phe4128Cys) c.12377T>G (p.Phe4126Cys) c.12371T>G (p.Phe4124Cys) c.12347T>G (p.Phe4116Cys) c.12170T>G (p.Phe4057Cys) c.12314T>G (p.Phe4105Cys) c.12386T>G (p.Phe4129Cys) | |
1 | g.237784066T>A | CA345413035 | RYR2 | c.*3446T>A (n.*3446T>A) c.12342T>A (p.Phe4114Leu) c.12375T>A (p.Phe4125Leu) c.4531T>A c.12354T>A (p.Phe4118Leu) c.2407T>A c.12306T>A (p.Phe4102Leu) n.3549T>A c.12408T>A (p.Phe4136Leu) c.12405T>A (p.Phe4135Leu) c.12384T>A (p.Phe4128Leu) c.12378T>A (p.Phe4126Leu) c.12372T>A (p.Phe4124Leu) c.12348T>A (p.Phe4116Leu) c.12171T>A (p.Phe4057Leu) c.12315T>A (p.Phe4105Leu) c.12387T>A (p.Phe4129Leu) | |
1 | g.237784066T>C | CA424032039 | RYR2 | c.*3446T>C (n.*3446T>C) c.12342T>C (p.Phe4114=) c.12375T>C (p.Phe4125=) c.4531T>C c.12354T>C (p.Phe4118=) c.2407T>C c.12306T>C (p.Phe4102=) n.3549T>C c.12408T>C (p.Phe4136=) c.12405T>C (p.Phe4135=) c.12384T>C (p.Phe4128=) c.12378T>C (p.Phe4126=) c.12372T>C (p.Phe4124=) c.12348T>C (p.Phe4116=) c.12171T>C (p.Phe4057=) c.12315T>C (p.Phe4105=) c.12387T>C (p.Phe4129=) | ClinVar |
1 | g.237784066T>G | CA345413036 | RYR2 | c.*3446T>G (n.*3446T>G) c.12342T>G (p.Phe4114Leu) c.12375T>G (p.Phe4125Leu) c.4531T>G c.12354T>G (p.Phe4118Leu) c.2407T>G c.12306T>G (p.Phe4102Leu) n.3549T>G c.12408T>G (p.Phe4136Leu) c.12405T>G (p.Phe4135Leu) c.12384T>G (p.Phe4128Leu) c.12378T>G (p.Phe4126Leu) c.12372T>G (p.Phe4124Leu) c.12348T>G (p.Phe4116Leu) c.12171T>G (p.Phe4057Leu) c.12315T>G (p.Phe4105Leu) c.12387T>G (p.Phe4129Leu) | |
1 | g.237784067C>A | CA345413037 | RYR2 | c.*3447C>A (n.*3447C>A) c.12343C>A (p.Leu4115Met) c.12376C>A (p.Leu4126Met) c.4532C>A c.12355C>A (p.Leu4119Met) c.2408C>A c.12307C>A (p.Leu4103Met) n.3550C>A c.12409C>A (p.Leu4137Met) c.12406C>A (p.Leu4136Met) c.12385C>A (p.Leu4129Met) c.12379C>A (p.Leu4127Met) c.12373C>A (p.Leu4125Met) c.12349C>A (p.Leu4117Met) c.12172C>A (p.Leu4058Met) c.12316C>A (p.Leu4106Met) c.12388C>A (p.Leu4130Met) | |
1 | g.237784067C>G | CA345413038 | RYR2 | c.*3447C>G (n.*3447C>G) c.12343C>G (p.Leu4115Val) c.12376C>G (p.Leu4126Val) c.4532C>G c.12355C>G (p.Leu4119Val) c.2408C>G c.12307C>G (p.Leu4103Val) n.3550C>G c.12409C>G (p.Leu4137Val) c.12406C>G (p.Leu4136Val) c.12385C>G (p.Leu4129Val) c.12379C>G (p.Leu4127Val) c.12373C>G (p.Leu4125Val) c.12349C>G (p.Leu4117Val) c.12172C>G (p.Leu4058Val) c.12316C>G (p.Leu4106Val) c.12388C>G (p.Leu4130Val) | |
1 | g.237784067C>T | CA424032040 | RYR2 | c.*3447C>T (n.*3447C>T) c.12343C>T (p.Leu4115=) c.12376C>T (p.Leu4126=) c.4532C>T c.12355C>T (p.Leu4119=) c.2408C>T c.12307C>T (p.Leu4103=) n.3550C>T c.12409C>T (p.Leu4137=) c.12406C>T (p.Leu4136=) c.12385C>T (p.Leu4129=) c.12379C>T (p.Leu4127=) c.12373C>T (p.Leu4125=) c.12349C>T (p.Leu4117=) c.12172C>T (p.Leu4058=) c.12316C>T (p.Leu4106=) c.12388C>T (p.Leu4130=) | |
1 | g.237784068T>A | CA345413039 | RYR2 | c.*3448T>A (n.*3448T>A) c.12344T>A (p.Leu4115Gln) c.12377T>A (p.Leu4126Gln) c.4533T>A c.12356T>A (p.Leu4119Gln) c.2409T>A c.12308T>A (p.Leu4103Gln) n.3551T>A c.12410T>A (p.Leu4137Gln) c.12407T>A (p.Leu4136Gln) c.12386T>A (p.Leu4129Gln) c.12380T>A (p.Leu4127Gln) c.12374T>A (p.Leu4125Gln) c.12350T>A (p.Leu4117Gln) c.12173T>A (p.Leu4058Gln) c.12317T>A (p.Leu4106Gln) c.12389T>A (p.Leu4130Gln) | |
1 | g.237784068T>C | CA345413040 | RYR2 | c.*3448T>C (n.*3448T>C) c.12344T>C (p.Leu4115Pro) c.12377T>C (p.Leu4126Pro) c.4533T>C c.12356T>C (p.Leu4119Pro) c.2409T>C c.12308T>C (p.Leu4103Pro) n.3551T>C c.12410T>C (p.Leu4137Pro) c.12407T>C (p.Leu4136Pro) c.12386T>C (p.Leu4129Pro) c.12380T>C (p.Leu4127Pro) c.12374T>C (p.Leu4125Pro) c.12350T>C (p.Leu4117Pro) c.12173T>C (p.Leu4058Pro) c.12317T>C (p.Leu4106Pro) c.12389T>C (p.Leu4130Pro) | |
1 | g.237784068T>G | CA345413041 | RYR2 | c.*3448T>G (n.*3448T>G) c.12344T>G (p.Leu4115Arg) c.12377T>G (p.Leu4126Arg) c.4533T>G c.12356T>G (p.Leu4119Arg) c.2409T>G c.12308T>G (p.Leu4103Arg) n.3551T>G c.12410T>G (p.Leu4137Arg) c.12407T>G (p.Leu4136Arg) c.12386T>G (p.Leu4129Arg) c.12380T>G (p.Leu4127Arg) c.12374T>G (p.Leu4125Arg) c.12350T>G (p.Leu4117Arg) c.12173T>G (p.Leu4058Arg) c.12317T>G (p.Leu4106Arg) c.12389T>G (p.Leu4130Arg) | |
1 | g.237784069G>A | CA424032041 | RYR2 | c.*3449G>A (n.*3449G>A) c.12345G>A (p.Leu4115=) c.12378G>A (p.Leu4126=) c.4534G>A c.12357G>A (p.Leu4119=) c.2410G>A c.12309G>A (p.Leu4103=) n.3552G>A c.12411G>A (p.Leu4137=) c.12408G>A (p.Leu4136=) c.12387G>A (p.Leu4129=) c.12381G>A (p.Leu4127=) c.12375G>A (p.Leu4125=) c.12351G>A (p.Leu4117=) c.12174G>A (p.Leu4058=) c.12318G>A (p.Leu4106=) c.12390G>A (p.Leu4130=) | ClinVar dbSNP |
1 | g.237784069G>C | CA424032042 | RYR2 | c.*3449G>C (n.*3449G>C) c.12345G>C (p.Leu4115=) c.12378G>C (p.Leu4126=) c.4534G>C c.12357G>C (p.Leu4119=) c.2410G>C c.12309G>C (p.Leu4103=) n.3552G>C c.12411G>C (p.Leu4137=) c.12408G>C (p.Leu4136=) c.12387G>C (p.Leu4129=) c.12381G>C (p.Leu4127=) c.12375G>C (p.Leu4125=) c.12351G>C (p.Leu4117=) c.12174G>C (p.Leu4058=) c.12318G>C (p.Leu4106=) c.12390G>C (p.Leu4130=) | gnomAD v4 |
1 | g.237784069G>T | CA424032043 | RYR2 | c.*3449G>T (n.*3449G>T) c.12345G>T (p.Leu4115=) c.12378G>T (p.Leu4126=) c.4534G>T c.12357G>T (p.Leu4119=) c.2410G>T c.12309G>T (p.Leu4103=) n.3552G>T c.12411G>T (p.Leu4137=) c.12408G>T (p.Leu4136=) c.12387G>T (p.Leu4129=) c.12381G>T (p.Leu4127=) c.12375G>T (p.Leu4125=) c.12351G>T (p.Leu4117=) c.12174G>T (p.Leu4058=) c.12318G>T (p.Leu4106=) c.12390G>T (p.Leu4130=) | |
1 | g.237784070G>A | CA345413044 | RYR2 | c.*3450G>A (n.*3450G>A) c.12346G>A (p.Glu4116Lys) c.12379G>A (p.Glu4127Lys) c.4535G>A c.12358G>A (p.Glu4120Lys) c.2411G>A c.12310G>A (p.Glu4104Lys) n.3553G>A c.12412G>A (p.Glu4138Lys) c.12409G>A (p.Glu4137Lys) c.12388G>A (p.Glu4130Lys) c.12382G>A (p.Glu4128Lys) c.12376G>A (p.Glu4126Lys) c.12352G>A (p.Glu4118Lys) c.12175G>A (p.Glu4059Lys) c.12319G>A (p.Glu4107Lys) c.12391G>A (p.Glu4131Lys) | COSMIC COSMIC |
1 | g.237784070G>C | CA345413043 | RYR2 | c.*3450G>C (n.*3450G>C) c.12346G>C (p.Glu4116Gln) c.12379G>C (p.Glu4127Gln) c.4535G>C c.12358G>C (p.Glu4120Gln) c.2411G>C c.12310G>C (p.Glu4104Gln) n.3553G>C c.12412G>C (p.Glu4138Gln) c.12409G>C (p.Glu4137Gln) c.12388G>C (p.Glu4130Gln) c.12382G>C (p.Glu4128Gln) c.12376G>C (p.Glu4126Gln) c.12352G>C (p.Glu4118Gln) c.12175G>C (p.Glu4059Gln) c.12319G>C (p.Glu4107Gln) c.12391G>C (p.Glu4131Gln) | |
1 | g.237784070G>T | CA345413042 | RYR2 | c.*3450G>T (n.*3450G>T) c.12346G>T (p.Glu4116Ter) c.12379G>T (p.Glu4127Ter) c.4535G>T c.12358G>T (p.Glu4120Ter) c.2411G>T c.12310G>T (p.Glu4104Ter) n.3553G>T c.12412G>T (p.Glu4138Ter) c.12409G>T (p.Glu4137Ter) c.12388G>T (p.Glu4130Ter) c.12382G>T (p.Glu4128Ter) c.12376G>T (p.Glu4126Ter) c.12352G>T (p.Glu4118Ter) c.12175G>T (p.Glu4059Ter) c.12319G>T (p.Glu4107Ter) c.12391G>T (p.Glu4131Ter) | |
1 | g.237784071A>C | CA345413045 | RYR2 | c.*3451A>C (n.*3451A>C) c.12347A>C (p.Glu4116Ala) c.12380A>C (p.Glu4127Ala) c.4536A>C c.12359A>C (p.Glu4120Ala) c.2412A>C c.12311A>C (p.Glu4104Ala) n.3554A>C c.12413A>C (p.Glu4138Ala) c.12410A>C (p.Glu4137Ala) c.12389A>C (p.Glu4130Ala) c.12383A>C (p.Glu4128Ala) c.12377A>C (p.Glu4126Ala) c.12353A>C (p.Glu4118Ala) c.12176A>C (p.Glu4059Ala) c.12320A>C (p.Glu4107Ala) c.12392A>C (p.Glu4131Ala) | |
1 | g.237784071A>G | CA345413046 | RYR2 | c.*3451A>G (n.*3451A>G) c.12347A>G (p.Glu4116Gly) c.12380A>G (p.Glu4127Gly) c.4536A>G c.12359A>G (p.Glu4120Gly) c.2412A>G c.12311A>G (p.Glu4104Gly) n.3554A>G c.12413A>G (p.Glu4138Gly) c.12410A>G (p.Glu4137Gly) c.12389A>G (p.Glu4130Gly) c.12383A>G (p.Glu4128Gly) c.12377A>G (p.Glu4126Gly) c.12353A>G (p.Glu4118Gly) c.12176A>G (p.Glu4059Gly) c.12320A>G (p.Glu4107Gly) c.12392A>G (p.Glu4131Gly) | gnomAD v4 |
1 | g.237784071A>T | CA345413047 | RYR2 | c.*3451A>T (n.*3451A>T) c.12347A>T (p.Glu4116Val) c.12380A>T (p.Glu4127Val) c.4536A>T c.12359A>T (p.Glu4120Val) c.2412A>T c.12311A>T (p.Glu4104Val) n.3554A>T c.12413A>T (p.Glu4138Val) c.12410A>T (p.Glu4137Val) c.12389A>T (p.Glu4130Val) c.12383A>T (p.Glu4128Val) c.12377A>T (p.Glu4126Val) c.12353A>T (p.Glu4118Val) c.12176A>T (p.Glu4059Val) c.12320A>T (p.Glu4107Val) c.12392A>T (p.Glu4131Val) | |
1 | g.237784072A>C | CA345413048 | RYR2 | c.*3452A>C (n.*3452A>C) c.12348A>C (p.Glu4116Asp) c.12381A>C (p.Glu4127Asp) c.4537A>C c.12360A>C (p.Glu4120Asp) c.2413A>C c.12312A>C (p.Glu4104Asp) n.3555A>C c.12414A>C (p.Glu4138Asp) c.12411A>C (p.Glu4137Asp) c.12390A>C (p.Glu4130Asp) c.12384A>C (p.Glu4128Asp) c.12378A>C (p.Glu4126Asp) c.12354A>C (p.Glu4118Asp) c.12177A>C (p.Glu4059Asp) c.12321A>C (p.Glu4107Asp) c.12393A>C (p.Glu4131Asp) | |
1 | g.237784072A>G | CA424032049 | RYR2 | c.*3452A>G (n.*3452A>G) c.12348A>G (p.Glu4116=) c.12381A>G (p.Glu4127=) c.4537A>G c.12360A>G (p.Glu4120=) c.2413A>G c.12312A>G (p.Glu4104=) n.3555A>G c.12414A>G (p.Glu4138=) c.12411A>G (p.Glu4137=) c.12390A>G (p.Glu4130=) c.12384A>G (p.Glu4128=) c.12378A>G (p.Glu4126=) c.12354A>G (p.Glu4118=) c.12177A>G (p.Glu4059=) c.12321A>G (p.Glu4107=) c.12393A>G (p.Glu4131=) | |
1 | g.237784072A>T | CA345413049 | RYR2 | c.*3452A>T (n.*3452A>T) c.12348A>T (p.Glu4116Asp) c.12381A>T (p.Glu4127Asp) c.4537A>T c.12360A>T (p.Glu4120Asp) c.2413A>T c.12312A>T (p.Glu4104Asp) n.3555A>T c.12414A>T (p.Glu4138Asp) c.12411A>T (p.Glu4137Asp) c.12390A>T (p.Glu4130Asp) c.12384A>T (p.Glu4128Asp) c.12378A>T (p.Glu4126Asp) c.12354A>T (p.Glu4118Asp) c.12177A>T (p.Glu4059Asp) c.12321A>T (p.Glu4107Asp) c.12393A>T (p.Glu4131Asp) | |
1 | g.237784073T>A | CA345413050 | RYR2 | c.*3453T>A (n.*3453T>A) c.12349T>A (p.Leu4117Ile) c.12382T>A (p.Leu4128Ile) c.4538T>A c.12361T>A (p.Leu4121Ile) c.2414T>A c.12313T>A (p.Leu4105Ile) n.3556T>A c.12415T>A (p.Leu4139Ile) c.12412T>A (p.Leu4138Ile) c.12391T>A (p.Leu4131Ile) c.12385T>A (p.Leu4129Ile) c.12379T>A (p.Leu4127Ile) c.12355T>A (p.Leu4119Ile) c.12178T>A (p.Leu4060Ile) c.12322T>A (p.Leu4108Ile) c.12394T>A (p.Leu4132Ile) | |
1 | g.237784073T>C | CA424032050 | RYR2 | c.*3453T>C (n.*3453T>C) c.12349T>C (p.Leu4117=) c.12382T>C (p.Leu4128=) c.4538T>C c.12361T>C (p.Leu4121=) c.2414T>C c.12313T>C (p.Leu4105=) n.3556T>C c.12415T>C (p.Leu4139=) c.12412T>C (p.Leu4138=) c.12391T>C (p.Leu4131=) c.12385T>C (p.Leu4129=) c.12379T>C (p.Leu4127=) c.12355T>C (p.Leu4119=) c.12178T>C (p.Leu4060=) c.12322T>C (p.Leu4108=) c.12394T>C (p.Leu4132=) | |
1 | g.237784073T>G | CA345413051 | RYR2 | c.*3453T>G (n.*3453T>G) c.12349T>G (p.Leu4117Val) c.12382T>G (p.Leu4128Val) c.4538T>G c.12361T>G (p.Leu4121Val) c.2414T>G c.12313T>G (p.Leu4105Val) n.3556T>G c.12415T>G (p.Leu4139Val) c.12412T>G (p.Leu4138Val) c.12391T>G (p.Leu4131Val) c.12385T>G (p.Leu4129Val) c.12379T>G (p.Leu4127Val) c.12355T>G (p.Leu4119Val) c.12178T>G (p.Leu4060Val) c.12322T>G (p.Leu4108Val) c.12394T>G (p.Leu4132Val) | |
1 | g.237784073T= | CA2487482372 | RYR2 | c.*3453T= (n.*3453T=) c.12349T= (p.Leu4117=) c.12382T= (p.Leu4128=) c.4538T= c.12361T= (p.Leu4121=) c.2414T= c.12313T= (p.Leu4105=) n.3556T= c.12415T= (p.Leu4139=) c.12412T= (p.Leu4138=) c.12391T= (p.Leu4131=) c.12385T= (p.Leu4129=) c.12379T= (p.Leu4127=) c.12355T= (p.Leu4119=) c.12178T= (p.Leu4060=) c.12322T= (p.Leu4108=) c.12394T= (p.Leu4132=) | |
1 | g.237784073_237784074insAA | CA2487482373 | RYR2 | c.*3453_*3454insAA (n.*3453_*3454insAA) c.12349_12350insAA (p.Leu4117Ter) c.12382_12383insAA (p.Leu4128Ter) c.4538_4539insAA c.12361_12362insAA (p.Leu4121Ter) c.2414_2415insAA c.12313_12314insAA (p.Leu4105Ter) n.3556_3557insAA c.12415_12416insAA (p.Leu4139Ter) c.12412_12413insAA (p.Leu4138Ter) c.12391_12392insAA (p.Leu4131Ter) c.12385_12386insAA (p.Leu4129Ter) c.12379_12380insAA (p.Leu4127Ter) c.12355_12356insAA (p.Leu4119Ter) c.12178_12179insAA (p.Leu4060Ter) c.12322_12323insAA (p.Leu4108Ter) c.12394_12395insAA (p.Leu4132Ter) | dbSNP |
1 | g.237784074T>A | CA345413052 | RYR2 | c.*3454T>A (n.*3454T>A) c.12350T>A (p.Leu4117Ter) c.12383T>A (p.Leu4128Ter) c.4539T>A c.12362T>A (p.Leu4121Ter) c.2415T>A c.12314T>A (p.Leu4105Ter) n.3557T>A c.12416T>A (p.Leu4139Ter) c.12413T>A (p.Leu4138Ter) c.12392T>A (p.Leu4131Ter) c.12386T>A (p.Leu4129Ter) c.12380T>A (p.Leu4127Ter) c.12356T>A (p.Leu4119Ter) c.12179T>A (p.Leu4060Ter) c.12323T>A (p.Leu4108Ter) c.12395T>A (p.Leu4132Ter) | |
1 | g.237784074T>C | CA345413053 | RYR2 | c.*3454T>C (n.*3454T>C) c.12350T>C (p.Leu4117Ser) c.12383T>C (p.Leu4128Ser) c.4539T>C c.12362T>C (p.Leu4121Ser) c.2415T>C c.12314T>C (p.Leu4105Ser) n.3557T>C c.12416T>C (p.Leu4139Ser) c.12413T>C (p.Leu4138Ser) c.12392T>C (p.Leu4131Ser) c.12386T>C (p.Leu4129Ser) c.12380T>C (p.Leu4127Ser) c.12356T>C (p.Leu4119Ser) c.12179T>C (p.Leu4060Ser) c.12323T>C (p.Leu4108Ser) c.12395T>C (p.Leu4132Ser) | |
1 | g.237784074T>G | CA345413054 | RYR2 | c.*3454T>G (n.*3454T>G) c.12350T>G (p.Leu4117Ter) c.12383T>G (p.Leu4128Ter) c.4539T>G c.12362T>G (p.Leu4121Ter) c.2415T>G c.12314T>G (p.Leu4105Ter) n.3557T>G c.12416T>G (p.Leu4139Ter) c.12413T>G (p.Leu4138Ter) c.12392T>G (p.Leu4131Ter) c.12386T>G (p.Leu4129Ter) c.12380T>G (p.Leu4127Ter) c.12356T>G (p.Leu4119Ter) c.12179T>G (p.Leu4060Ter) c.12323T>G (p.Leu4108Ter) c.12395T>G (p.Leu4132Ter) | |
1 | g.237784074_237784077delinsTAGC | CA2487482374 | RYR2 | c.*3454_*3457delinsTAGC (n.*3454_*3457delinsTAGC) c.12350_12353delinsTAGC (p.Leu4117=) c.12383_12386delinsTAGC (p.Leu4128=) c.4539_4542delinsTAGC c.12362_12365delinsTAGC (p.Leu4121=) c.2415_2418delinsTAGC c.12314_12317delinsTAGC (p.Leu4105=) n.3557_3560delinsTAGC c.12416_12419delinsTAGC (p.Leu4139=) c.12413_12416delinsTAGC (p.Leu4138=) c.12392_12395delinsTAGC (p.Leu4131=) c.12386_12389delinsTAGC (p.Leu4129=) c.12380_12383delinsTAGC (p.Leu4127=) c.12356_12359delinsTAGC (p.Leu4119=) c.12179_12182delinsTAGC (p.Leu4060=) c.12323_12326delinsTAGC (p.Leu4108=) c.12395_12398delinsTAGC (p.Leu4132=) | |
1 | g.237784075A>C | CA345413055 | RYR2 | c.*3455A>C (n.*3455A>C) c.12351A>C (p.Leu4117Phe) c.12384A>C (p.Leu4128Phe) c.4540A>C c.12363A>C (p.Leu4121Phe) c.2416A>C c.12315A>C (p.Leu4105Phe) n.3558A>C c.12417A>C (p.Leu4139Phe) c.12414A>C (p.Leu4138Phe) c.12393A>C (p.Leu4131Phe) c.12387A>C (p.Leu4129Phe) c.12381A>C (p.Leu4127Phe) c.12357A>C (p.Leu4119Phe) c.12180A>C (p.Leu4060Phe) c.12324A>C (p.Leu4108Phe) c.12396A>C (p.Leu4132Phe) | |
1 | g.237784075A>G | CA424032055 | RYR2 | c.*3455A>G (n.*3455A>G) c.12351A>G (p.Leu4117=) c.12384A>G (p.Leu4128=) c.4540A>G c.12363A>G (p.Leu4121=) c.2416A>G c.12315A>G (p.Leu4105=) n.3558A>G c.12417A>G (p.Leu4139=) c.12414A>G (p.Leu4138=) c.12393A>G (p.Leu4131=) c.12387A>G (p.Leu4129=) c.12381A>G (p.Leu4127=) c.12357A>G (p.Leu4119=) c.12180A>G (p.Leu4060=) c.12324A>G (p.Leu4108=) c.12396A>G (p.Leu4132=) | |
1 | g.237784075A>T | CA345413056 | RYR2 | c.*3455A>T (n.*3455A>T) c.12351A>T (p.Leu4117Phe) c.12384A>T (p.Leu4128Phe) c.4540A>T c.12363A>T (p.Leu4121Phe) c.2416A>T c.12315A>T (p.Leu4105Phe) n.3558A>T c.12417A>T (p.Leu4139Phe) c.12414A>T (p.Leu4138Phe) c.12393A>T (p.Leu4131Phe) c.12387A>T (p.Leu4129Phe) c.12381A>T (p.Leu4127Phe) c.12357A>T (p.Leu4119Phe) c.12180A>T (p.Leu4060Phe) c.12324A>T (p.Leu4108Phe) c.12396A>T (p.Leu4132Phe) | |
1 | g.237784077_237784079del | CA1139656705 | RYR2 | c.*3457_*3459del (n.*3457_*3459del) c.12353_12355del (p.Ala4118del) c.12386_12388del (p.Ala4129del) c.4542_4544del c.12365_12367del (p.Ala4122del) c.2418_2420del c.12317_12319del (p.Ala4106del) n.3560_3562del c.12419_12421del (p.Ala4140del) c.12416_12418del (p.Ala4139del) c.12395_12397del (p.Ala4132del) c.12389_12391del (p.Ala4130del) c.12383_12385del (p.Ala4128del) c.12359_12361del (p.Ala4120del) c.12182_12184del (p.Ala4061del) c.12326_12328del (p.Ala4109del) c.12398_12400del (p.Ala4133del) | ClinVar dbSNP |
1 | g.237784076G>A | CA066408 | RYR2 | c.*3456G>A (n.*3456G>A) c.12352G>A (p.Ala4118Thr) c.12385G>A (p.Ala4129Thr) c.4541G>A c.12364G>A (p.Ala4122Thr) c.2417G>A c.12316G>A (p.Ala4106Thr) n.3559G>A c.12418G>A (p.Ala4140Thr) c.12415G>A (p.Ala4139Thr) c.12394G>A (p.Ala4132Thr) c.12388G>A (p.Ala4130Thr) c.12382G>A (p.Ala4128Thr) c.12358G>A (p.Ala4120Thr) c.12181G>A (p.Ala4061Thr) c.12325G>A (p.Ala4109Thr) c.12397G>A (p.Ala4133Thr) | |
1 | g.237784076G>C | CA345413058 | RYR2 | c.*3456G>C (n.*3456G>C) c.12352G>C (p.Ala4118Pro) c.12385G>C (p.Ala4129Pro) c.4541G>C c.12364G>C (p.Ala4122Pro) c.2417G>C c.12316G>C (p.Ala4106Pro) n.3559G>C c.12418G>C (p.Ala4140Pro) c.12415G>C (p.Ala4139Pro) c.12394G>C (p.Ala4132Pro) c.12388G>C (p.Ala4130Pro) c.12382G>C (p.Ala4128Pro) c.12358G>C (p.Ala4120Pro) c.12181G>C (p.Ala4061Pro) c.12325G>C (p.Ala4109Pro) c.12397G>C (p.Ala4133Pro) | |
1 | g.237784076G>T | CA345413057 | RYR2 | c.*3456G>T (n.*3456G>T) c.12352G>T (p.Ala4118Ser) c.12385G>T (p.Ala4129Ser) c.4541G>T c.12364G>T (p.Ala4122Ser) c.2417G>T c.12316G>T (p.Ala4106Ser) n.3559G>T c.12418G>T (p.Ala4140Ser) c.12415G>T (p.Ala4139Ser) c.12394G>T (p.Ala4132Ser) c.12388G>T (p.Ala4130Ser) c.12382G>T (p.Ala4128Ser) c.12358G>T (p.Ala4120Ser) c.12181G>T (p.Ala4061Ser) c.12325G>T (p.Ala4109Ser) c.12397G>T (p.Ala4133Ser) | |
1 | g.237784077C>A | CA345413059 | RYR2 | c.*3457C>A (n.*3457C>A) c.12353C>A (p.Ala4118Glu) c.12386C>A (p.Ala4129Glu) c.4542C>A c.12365C>A (p.Ala4122Glu) c.2418C>A c.12317C>A (p.Ala4106Glu) n.3560C>A c.12419C>A (p.Ala4140Glu) c.12416C>A (p.Ala4139Glu) c.12395C>A (p.Ala4132Glu) c.12389C>A (p.Ala4130Glu) c.12383C>A (p.Ala4128Glu) c.12359C>A (p.Ala4120Glu) c.12182C>A (p.Ala4061Glu) c.12326C>A (p.Ala4109Glu) c.12398C>A (p.Ala4133Glu) | COSMIC |
1 | g.237784077C>G | CA345413061 | RYR2 | c.*3457C>G (n.*3457C>G) c.12353C>G (p.Ala4118Gly) c.12386C>G (p.Ala4129Gly) c.4542C>G c.12365C>G (p.Ala4122Gly) c.2418C>G c.12317C>G (p.Ala4106Gly) n.3560C>G c.12419C>G (p.Ala4140Gly) c.12416C>G (p.Ala4139Gly) c.12395C>G (p.Ala4132Gly) c.12389C>G (p.Ala4130Gly) c.12383C>G (p.Ala4128Gly) c.12359C>G (p.Ala4120Gly) c.12182C>G (p.Ala4061Gly) c.12326C>G (p.Ala4109Gly) c.12398C>G (p.Ala4133Gly) | |
1 | g.237784077C>T | CA345413060 | RYR2 | c.*3457C>T (n.*3457C>T) c.12353C>T (p.Ala4118Val) c.12386C>T (p.Ala4129Val) c.4542C>T c.12365C>T (p.Ala4122Val) c.2418C>T c.12317C>T (p.Ala4106Val) n.3560C>T c.12419C>T (p.Ala4140Val) c.12416C>T (p.Ala4139Val) c.12395C>T (p.Ala4132Val) c.12389C>T (p.Ala4130Val) c.12383C>T (p.Ala4128Val) c.12359C>T (p.Ala4120Val) c.12182C>T (p.Ala4061Val) c.12326C>T (p.Ala4109Val) c.12398C>T (p.Ala4133Val) | |
1 | g.237784078A= | CA1143912160 | RYR2 | c.*3458A= (n.*3458A=) c.12354A= (p.Ala4118=) c.12387A= (p.Ala4129=) c.4543A= c.12366A= (p.Ala4122=) c.2419A= c.12318A= (p.Ala4106=) n.3561A= c.12420A= (p.Ala4140=) c.12417A= (p.Ala4139=) c.12396A= (p.Ala4132=) c.12390A= (p.Ala4130=) c.12384A= (p.Ala4128=) c.12360A= (p.Ala4120=) c.12183A= (p.Ala4061=) c.12327A= (p.Ala4109=) c.12399A= (p.Ala4133=) | |
1 | g.237784078A>C | CA424032061 | RYR2 | c.*3458A>C (n.*3458A>C) c.12354A>C (p.Ala4118=) c.12387A>C (p.Ala4129=) c.4543A>C c.12366A>C (p.Ala4122=) c.2419A>C c.12318A>C (p.Ala4106=) n.3561A>C c.12420A>C (p.Ala4140=) c.12417A>C (p.Ala4139=) c.12396A>C (p.Ala4132=) c.12390A>C (p.Ala4130=) c.12384A>C (p.Ala4128=) c.12360A>C (p.Ala4120=) c.12183A>C (p.Ala4061=) c.12327A>C (p.Ala4109=) c.12399A>C (p.Ala4133=) | |
1 | g.237784078A>G | CA066410 | RYR2 | c.*3458A>G (n.*3458A>G) c.12354A>G (p.Ala4118=) c.12387A>G (p.Ala4129=) c.4543A>G c.12366A>G (p.Ala4122=) c.2419A>G c.12318A>G (p.Ala4106=) n.3561A>G c.12420A>G (p.Ala4140=) c.12417A>G (p.Ala4139=) c.12396A>G (p.Ala4132=) c.12390A>G (p.Ala4130=) c.12384A>G (p.Ala4128=) c.12360A>G (p.Ala4120=) c.12183A>G (p.Ala4061=) c.12327A>G (p.Ala4109=) c.12399A>G (p.Ala4133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784078A>T | CA424032059 | RYR2 | c.*3458A>T (n.*3458A>T) c.12354A>T (p.Ala4118=) c.12387A>T (p.Ala4129=) c.4543A>T c.12366A>T (p.Ala4122=) c.2419A>T c.12318A>T (p.Ala4106=) n.3561A>T c.12420A>T (p.Ala4140=) c.12417A>T (p.Ala4139=) c.12396A>T (p.Ala4132=) c.12390A>T (p.Ala4130=) c.12384A>T (p.Ala4128=) c.12360A>T (p.Ala4120=) c.12183A>T (p.Ala4061=) c.12327A>T (p.Ala4109=) c.12399A>T (p.Ala4133=) | |
1 | g.237784079G>A | CA345413062 | RYR2 | c.*3459G>A (n.*3459G>A) c.12355G>A (p.Glu4119Lys) c.12388G>A (p.Glu4130Lys) c.4544G>A c.12367G>A (p.Glu4123Lys) c.2420G>A c.12319G>A (p.Glu4107Lys) n.3562G>A c.12421G>A (p.Glu4141Lys) c.12418G>A (p.Glu4140Lys) c.12397G>A (p.Glu4133Lys) c.12391G>A (p.Glu4131Lys) c.12385G>A (p.Glu4129Lys) c.12361G>A (p.Glu4121Lys) c.12184G>A (p.Glu4062Lys) c.12328G>A (p.Glu4110Lys) c.12400G>A (p.Glu4134Lys) | |
1 | g.237784079G>C | CA345413063 | RYR2 | c.*3459G>C (n.*3459G>C) c.12355G>C (p.Glu4119Gln) c.12388G>C (p.Glu4130Gln) c.4544G>C c.12367G>C (p.Glu4123Gln) c.2420G>C c.12319G>C (p.Glu4107Gln) n.3562G>C c.12421G>C (p.Glu4141Gln) c.12418G>C (p.Glu4140Gln) c.12397G>C (p.Glu4133Gln) c.12391G>C (p.Glu4131Gln) c.12385G>C (p.Glu4129Gln) c.12361G>C (p.Glu4121Gln) c.12184G>C (p.Glu4062Gln) c.12328G>C (p.Glu4110Gln) c.12400G>C (p.Glu4134Gln) | |
1 | g.237784079G>T | CA345413064 | RYR2 | c.*3459G>T (n.*3459G>T) c.12355G>T (p.Glu4119Ter) c.12388G>T (p.Glu4130Ter) c.4544G>T c.12367G>T (p.Glu4123Ter) c.2420G>T c.12319G>T (p.Glu4107Ter) n.3562G>T c.12421G>T (p.Glu4141Ter) c.12418G>T (p.Glu4140Ter) c.12397G>T (p.Glu4133Ter) c.12391G>T (p.Glu4131Ter) c.12385G>T (p.Glu4129Ter) c.12361G>T (p.Glu4121Ter) c.12184G>T (p.Glu4062Ter) c.12328G>T (p.Glu4110Ter) c.12400G>T (p.Glu4134Ter) | |
1 | g.237784080A>C | CA345413065 | RYR2 | c.*3460A>C (n.*3460A>C) c.12356A>C (p.Glu4119Ala) c.12389A>C (p.Glu4130Ala) c.4545A>C c.12368A>C (p.Glu4123Ala) c.2421A>C c.12320A>C (p.Glu4107Ala) n.3563A>C c.12422A>C (p.Glu4141Ala) c.12419A>C (p.Glu4140Ala) c.12398A>C (p.Glu4133Ala) c.12392A>C (p.Glu4131Ala) c.12386A>C (p.Glu4129Ala) c.12362A>C (p.Glu4121Ala) c.12185A>C (p.Glu4062Ala) c.12329A>C (p.Glu4110Ala) c.12401A>C (p.Glu4134Ala) | |
1 | g.237784080A>G | CA345413066 | RYR2 | c.*3460A>G (n.*3460A>G) c.12356A>G (p.Glu4119Gly) c.12389A>G (p.Glu4130Gly) c.4545A>G c.12368A>G (p.Glu4123Gly) c.2421A>G c.12320A>G (p.Glu4107Gly) n.3563A>G c.12422A>G (p.Glu4141Gly) c.12419A>G (p.Glu4140Gly) c.12398A>G (p.Glu4133Gly) c.12392A>G (p.Glu4131Gly) c.12386A>G (p.Glu4129Gly) c.12362A>G (p.Glu4121Gly) c.12185A>G (p.Glu4062Gly) c.12329A>G (p.Glu4110Gly) c.12401A>G (p.Glu4134Gly) | ClinVar |
1 | g.237784080A>T | CA345413067 | RYR2 | c.*3460A>T (n.*3460A>T) c.12356A>T (p.Glu4119Val) c.12389A>T (p.Glu4130Val) c.4545A>T c.12368A>T (p.Glu4123Val) c.2421A>T c.12320A>T (p.Glu4107Val) n.3563A>T c.12422A>T (p.Glu4141Val) c.12419A>T (p.Glu4140Val) c.12398A>T (p.Glu4133Val) c.12392A>T (p.Glu4131Val) c.12386A>T (p.Glu4129Val) c.12362A>T (p.Glu4121Val) c.12185A>T (p.Glu4062Val) c.12329A>T (p.Glu4110Val) c.12401A>T (p.Glu4134Val) | |
1 | g.237784081G>A | CA424032069 | RYR2 | c.*3461G>A (n.*3461G>A) c.12357G>A (p.Glu4119=) c.12390G>A (p.Glu4130=) c.4546G>A c.12369G>A (p.Glu4123=) c.2422G>A c.12321G>A (p.Glu4107=) n.3564G>A c.12423G>A (p.Glu4141=) c.12420G>A (p.Glu4140=) c.12399G>A (p.Glu4133=) c.12393G>A (p.Glu4131=) c.12387G>A (p.Glu4129=) c.12363G>A (p.Glu4121=) c.12186G>A (p.Glu4062=) c.12330G>A (p.Glu4110=) c.12402G>A (p.Glu4134=) | |
1 | g.237784081G>C | CA085173 | RYR2 | c.*3461G>C (n.*3461G>C) c.12357G>C (p.Glu4119Asp) c.12390G>C (p.Glu4130Asp) c.4546G>C c.12369G>C (p.Glu4123Asp) c.2422G>C c.12321G>C (p.Glu4107Asp) n.3564G>C c.12423G>C (p.Glu4141Asp) c.12420G>C (p.Glu4140Asp) c.12399G>C (p.Glu4133Asp) c.12393G>C (p.Glu4131Asp) c.12387G>C (p.Glu4129Asp) c.12363G>C (p.Glu4121Asp) c.12186G>C (p.Glu4062Asp) c.12330G>C (p.Glu4110Asp) c.12402G>C (p.Glu4134Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.237784081G= | CA2487482375 | RYR2 | c.*3461G= (n.*3461G=) c.12357G= (p.Glu4119=) c.12390G= (p.Glu4130=) c.4546G= c.12369G= (p.Glu4123=) c.2422G= c.12321G= (p.Glu4107=) n.3564G= c.12423G= (p.Glu4141=) c.12420G= (p.Glu4140=) c.12399G= (p.Glu4133=) c.12393G= (p.Glu4131=) c.12387G= (p.Glu4129=) c.12363G= (p.Glu4121=) c.12186G= (p.Glu4062=) c.12330G= (p.Glu4110=) c.12402G= (p.Glu4134=) | |
1 | g.237784081G>T | CA345413068 | RYR2 | c.*3461G>T (n.*3461G>T) c.12357G>T (p.Glu4119Asp) c.12390G>T (p.Glu4130Asp) c.4546G>T c.12369G>T (p.Glu4123Asp) c.2422G>T c.12321G>T (p.Glu4107Asp) n.3564G>T c.12423G>T (p.Glu4141Asp) c.12420G>T (p.Glu4140Asp) c.12399G>T (p.Glu4133Asp) c.12393G>T (p.Glu4131Asp) c.12387G>T (p.Glu4129Asp) c.12363G>T (p.Glu4121Asp) c.12186G>T (p.Glu4062Asp) c.12330G>T (p.Glu4110Asp) c.12402G>T (p.Glu4134Asp) | ClinVar dbSNP |
1 | g.237784082A>C | CA345413069 | RYR2 | c.*3462A>C (n.*3462A>C) c.12358A>C (p.Ser4120Arg) c.12391A>C (p.Ser4131Arg) c.4547A>C c.12370A>C (p.Ser4124Arg) c.2423A>C c.12322A>C (p.Ser4108Arg) n.3565A>C c.12424A>C (p.Ser4142Arg) c.12421A>C (p.Ser4141Arg) c.12400A>C (p.Ser4134Arg) c.12394A>C (p.Ser4132Arg) c.12388A>C (p.Ser4130Arg) c.12364A>C (p.Ser4122Arg) c.12187A>C (p.Ser4063Arg) c.12331A>C (p.Ser4111Arg) c.12403A>C (p.Ser4135Arg) | |
1 | g.237784082A>G | CA345413070 | RYR2 | c.*3462A>G (n.*3462A>G) c.12358A>G (p.Ser4120Gly) c.12391A>G (p.Ser4131Gly) c.4547A>G c.12370A>G (p.Ser4124Gly) c.2423A>G c.12322A>G (p.Ser4108Gly) n.3565A>G c.12424A>G (p.Ser4142Gly) c.12421A>G (p.Ser4141Gly) c.12400A>G (p.Ser4134Gly) c.12394A>G (p.Ser4132Gly) c.12388A>G (p.Ser4130Gly) c.12364A>G (p.Ser4122Gly) c.12187A>G (p.Ser4063Gly) c.12331A>G (p.Ser4111Gly) c.12403A>G (p.Ser4135Gly) | |
1 | g.237784082A>T | CA345413071 | RYR2 | c.*3462A>T (n.*3462A>T) c.12358A>T (p.Ser4120Cys) c.12391A>T (p.Ser4131Cys) c.4547A>T c.12370A>T (p.Ser4124Cys) c.2423A>T c.12322A>T (p.Ser4108Cys) n.3565A>T c.12424A>T (p.Ser4142Cys) c.12421A>T (p.Ser4141Cys) c.12400A>T (p.Ser4134Cys) c.12394A>T (p.Ser4132Cys) c.12388A>T (p.Ser4130Cys) c.12364A>T (p.Ser4122Cys) c.12187A>T (p.Ser4063Cys) c.12331A>T (p.Ser4111Cys) c.12403A>T (p.Ser4135Cys) | |
1 | g.237784083G>A | CA345413072 | RYR2 | c.*3463G>A (n.*3463G>A) c.12359G>A (p.Ser4120Asn) c.12392G>A (p.Ser4131Asn) c.4548G>A c.12371G>A (p.Ser4124Asn) c.2424G>A c.12323G>A (p.Ser4108Asn) n.3566G>A c.12425G>A (p.Ser4142Asn) c.12422G>A (p.Ser4141Asn) c.12401G>A (p.Ser4134Asn) c.12395G>A (p.Ser4132Asn) c.12389G>A (p.Ser4130Asn) c.12365G>A (p.Ser4122Asn) c.12188G>A (p.Ser4063Asn) c.12332G>A (p.Ser4111Asn) c.12404G>A (p.Ser4135Asn) | |
1 | g.237784083G>C | CA345413073 | RYR2 | c.*3463G>C (n.*3463G>C) c.12359G>C (p.Ser4120Thr) c.12392G>C (p.Ser4131Thr) c.4548G>C c.12371G>C (p.Ser4124Thr) c.2424G>C c.12323G>C (p.Ser4108Thr) n.3566G>C c.12425G>C (p.Ser4142Thr) c.12422G>C (p.Ser4141Thr) c.12401G>C (p.Ser4134Thr) c.12395G>C (p.Ser4132Thr) c.12389G>C (p.Ser4130Thr) c.12365G>C (p.Ser4122Thr) c.12188G>C (p.Ser4063Thr) c.12332G>C (p.Ser4111Thr) c.12404G>C (p.Ser4135Thr) | dbSNP |
1 | g.237784083G= | CA2487482376 | RYR2 | c.*3463G= (n.*3463G=) c.12359G= (p.Ser4120=) c.12392G= (p.Ser4131=) c.4548G= c.12371G= (p.Ser4124=) c.2424G= c.12323G= (p.Ser4108=) n.3566G= c.12425G= (p.Ser4142=) c.12422G= (p.Ser4141=) c.12401G= (p.Ser4134=) c.12395G= (p.Ser4132=) c.12389G= (p.Ser4130=) c.12365G= (p.Ser4122=) c.12188G= (p.Ser4063=) c.12332G= (p.Ser4111=) c.12404G= (p.Ser4135=) | |
1 | g.237784083G>T | CA345413074 | RYR2 | c.*3463G>T (n.*3463G>T) c.12359G>T (p.Ser4120Ile) c.12392G>T (p.Ser4131Ile) c.4548G>T c.12371G>T (p.Ser4124Ile) c.2424G>T c.12323G>T (p.Ser4108Ile) n.3566G>T c.12425G>T (p.Ser4142Ile) c.12422G>T (p.Ser4141Ile) c.12401G>T (p.Ser4134Ile) c.12395G>T (p.Ser4132Ile) c.12389G>T (p.Ser4130Ile) c.12365G>T (p.Ser4122Ile) c.12188G>T (p.Ser4063Ile) c.12332G>T (p.Ser4111Ile) c.12404G>T (p.Ser4135Ile) | |
1 | g.237784084C>A | CA007482 | RYR2 | c.*3464C>A (n.*3464C>A) c.12360C>A (p.Ser4120Arg) c.12393C>A (p.Ser4131Arg) c.4549C>A c.12372C>A (p.Ser4124Arg) c.2425C>A c.12324C>A (p.Ser4108Arg) n.3567C>A c.12426C>A (p.Ser4142Arg) c.12423C>A (p.Ser4141Arg) c.12402C>A (p.Ser4134Arg) c.12396C>A (p.Ser4132Arg) c.12390C>A (p.Ser4130Arg) c.12366C>A (p.Ser4122Arg) c.12189C>A (p.Ser4063Arg) c.12333C>A (p.Ser4111Arg) c.12405C>A (p.Ser4135Arg) | ClinVar dbSNP |
1 | g.237784084C= | CA2487482377 | RYR2 | c.*3464C= (n.*3464C=) c.12360C= (p.Ser4120=) c.12393C= (p.Ser4131=) c.4549C= c.12372C= (p.Ser4124=) c.2425C= c.12324C= (p.Ser4108=) n.3567C= c.12426C= (p.Ser4142=) c.12423C= (p.Ser4141=) c.12402C= (p.Ser4134=) c.12396C= (p.Ser4132=) c.12390C= (p.Ser4130=) c.12366C= (p.Ser4122=) c.12189C= (p.Ser4063=) c.12333C= (p.Ser4111=) c.12405C= (p.Ser4135=) | |
1 | g.237784084C>G | CA345413075 | RYR2 | c.*3464C>G (n.*3464C>G) c.12360C>G (p.Ser4120Arg) c.12393C>G (p.Ser4131Arg) c.4549C>G c.12372C>G (p.Ser4124Arg) c.2425C>G c.12324C>G (p.Ser4108Arg) n.3567C>G c.12426C>G (p.Ser4142Arg) c.12423C>G (p.Ser4141Arg) c.12402C>G (p.Ser4134Arg) c.12396C>G (p.Ser4132Arg) c.12390C>G (p.Ser4130Arg) c.12366C>G (p.Ser4122Arg) c.12189C>G (p.Ser4063Arg) c.12333C>G (p.Ser4111Arg) c.12405C>G (p.Ser4135Arg) | |
1 | g.237784084C>T | CA085174 | RYR2 | c.*3464C>T (n.*3464C>T) c.12360C>T (p.Ser4120=) c.12393C>T (p.Ser4131=) c.4549C>T c.12372C>T (p.Ser4124=) c.2425C>T c.12324C>T (p.Ser4108=) n.3567C>T c.12426C>T (p.Ser4142=) c.12423C>T (p.Ser4141=) c.12402C>T (p.Ser4134=) c.12396C>T (p.Ser4132=) c.12390C>T (p.Ser4130=) c.12366C>T (p.Ser4122=) c.12189C>T (p.Ser4063=) c.12333C>T (p.Ser4111=) c.12405C>T (p.Ser4135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.237784085G>A | CA085176 | RYR2 | c.*3465G>A (n.*3465G>A) c.12361G>A (p.Val4121Ile) c.12394G>A (p.Val4132Ile) c.4550G>A c.12373G>A (p.Val4125Ile) c.2426G>A c.12325G>A (p.Val4109Ile) n.3568G>A c.12427G>A (p.Val4143Ile) c.12424G>A (p.Val4142Ile) c.12403G>A (p.Val4135Ile) c.12397G>A (p.Val4133Ile) c.12391G>A (p.Val4131Ile) c.12367G>A (p.Val4123Ile) c.12190G>A (p.Val4064Ile) c.12334G>A (p.Val4112Ile) c.12406G>A (p.Val4136Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.237784085G>C | CA345413076 | RYR2 | c.*3465G>C (n.*3465G>C) c.12361G>C (p.Val4121Leu) c.12394G>C (p.Val4132Leu) c.4550G>C c.12373G>C (p.Val4125Leu) c.2426G>C c.12325G>C (p.Val4109Leu) n.3568G>C c.12427G>C (p.Val4143Leu) c.12424G>C (p.Val4142Leu) c.12403G>C (p.Val4135Leu) c.12397G>C (p.Val4133Leu) c.12391G>C (p.Val4131Leu) c.12367G>C (p.Val4123Leu) c.12190G>C (p.Val4064Leu) c.12334G>C (p.Val4112Leu) c.12406G>C (p.Val4136Leu) | |
1 | g.237784085G= | CA2487482378 | RYR2 | c.*3465G= (n.*3465G=) c.12361G= (p.Val4121=) c.12394G= (p.Val4132=) c.4550G= c.12373G= (p.Val4125=) c.2426G= c.12325G= (p.Val4109=) n.3568G= c.12427G= (p.Val4143=) c.12424G= (p.Val4142=) c.12403G= (p.Val4135=) c.12397G= (p.Val4133=) c.12391G= (p.Val4131=) c.12367G= (p.Val4123=) c.12190G= (p.Val4064=) c.12334G= (p.Val4112=) c.12406G= (p.Val4136=) | |
1 | g.237784085G>T | CA007493 | RYR2 | c.*3465G>T (n.*3465G>T) c.12361G>T (p.Val4121Phe) c.12394G>T (p.Val4132Phe) c.4550G>T c.12373G>T (p.Val4125Phe) c.2426G>T c.12325G>T (p.Val4109Phe) n.3568G>T c.12427G>T (p.Val4143Phe) c.12424G>T (p.Val4142Phe) c.12403G>T (p.Val4135Phe) c.12397G>T (p.Val4133Phe) c.12391G>T (p.Val4131Phe) c.12367G>T (p.Val4123Phe) c.12190G>T (p.Val4064Phe) c.12334G>T (p.Val4112Phe) c.12406G>T (p.Val4136Phe) | ClinVar dbSNP COSMIC COSMIC |
1 | g.237784086T>A | CA345413077 | RYR2 | c.*3466T>A (n.*3466T>A) c.12362T>A (p.Val4121Asp) c.12395T>A (p.Val4132Asp) c.4551T>A c.12374T>A (p.Val4125Asp) c.2427T>A c.12326T>A (p.Val4109Asp) n.3569T>A c.12428T>A (p.Val4143Asp) c.12425T>A (p.Val4142Asp) c.12404T>A (p.Val4135Asp) c.12398T>A (p.Val4133Asp) c.12392T>A (p.Val4131Asp) c.12368T>A (p.Val4123Asp) c.12191T>A (p.Val4064Asp) c.12335T>A (p.Val4112Asp) c.12407T>A (p.Val4136Asp) | |
1 | g.237784086T>C | CA345413078 | RYR2 | c.*3466T>C (n.*3466T>C) c.12362T>C (p.Val4121Ala) c.12395T>C (p.Val4132Ala) c.4551T>C c.12374T>C (p.Val4125Ala) c.2427T>C c.12326T>C (p.Val4109Ala) n.3569T>C c.12428T>C (p.Val4143Ala) c.12425T>C (p.Val4142Ala) c.12404T>C (p.Val4135Ala) c.12398T>C (p.Val4133Ala) c.12392T>C (p.Val4131Ala) c.12368T>C (p.Val4123Ala) c.12191T>C (p.Val4064Ala) c.12335T>C (p.Val4112Ala) c.12407T>C (p.Val4136Ala) | gnomAD v4 |
1 | g.237784086T>G | CA345413079 | RYR2 | c.*3466T>G (n.*3466T>G) c.12362T>G (p.Val4121Gly) c.12395T>G (p.Val4132Gly) c.4551T>G c.12374T>G (p.Val4125Gly) c.2427T>G c.12326T>G (p.Val4109Gly) n.3569T>G c.12428T>G (p.Val4143Gly) c.12425T>G (p.Val4142Gly) c.12404T>G (p.Val4135Gly) c.12398T>G (p.Val4133Gly) c.12392T>G (p.Val4131Gly) c.12368T>G (p.Val4123Gly) c.12191T>G (p.Val4064Gly) c.12335T>G (p.Val4112Gly) c.12407T>G (p.Val4136Gly) | |
1 | g.237784087C>A | CA424032084 | RYR2 | c.*3467C>A (n.*3467C>A) c.12363C>A (p.Val4121=) c.12396C>A (p.Val4132=) c.4552C>A c.12375C>A (p.Val4125=) c.2428C>A c.12327C>A (p.Val4109=) n.3570C>A c.12429C>A (p.Val4143=) c.12426C>A (p.Val4142=) c.12405C>A (p.Val4135=) c.12399C>A (p.Val4133=) c.12393C>A (p.Val4131=) c.12369C>A (p.Val4123=) c.12192C>A (p.Val4064=) c.12336C>A (p.Val4112=) c.12408C>A (p.Val4136=) | |
1 | g.237784087C= | CA2487482379 | RYR2 | c.*3467C= (n.*3467C=) c.12363C= (p.Val4121=) c.12396C= (p.Val4132=) c.4552C= c.12375C= (p.Val4125=) c.2428C= c.12327C= (p.Val4109=) n.3570C= c.12429C= (p.Val4143=) c.12426C= (p.Val4142=) c.12405C= (p.Val4135=) c.12399C= (p.Val4133=) c.12393C= (p.Val4131=) c.12369C= (p.Val4123=) c.12192C= (p.Val4064=) c.12336C= (p.Val4112=) c.12408C= (p.Val4136=) | |
1 | g.237784087C>G | CA424032085 | RYR2 | c.*3467C>G (n.*3467C>G) c.12363C>G (p.Val4121=) c.12396C>G (p.Val4132=) c.4552C>G c.12375C>G (p.Val4125=) c.2428C>G c.12327C>G (p.Val4109=) n.3570C>G c.12429C>G (p.Val4143=) c.12426C>G (p.Val4142=) c.12405C>G (p.Val4135=) c.12399C>G (p.Val4133=) c.12393C>G (p.Val4131=) c.12369C>G (p.Val4123=) c.12192C>G (p.Val4064=) c.12336C>G (p.Val4112=) c.12408C>G (p.Val4136=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.237784087C>T | CA424032086 | RYR2 | c.*3467C>T (n.*3467C>T) c.12363C>T (p.Val4121=) c.12396C>T (p.Val4132=) c.4552C>T c.12375C>T (p.Val4125=) c.2428C>T c.12327C>T (p.Val4109=) n.3570C>T c.12429C>T (p.Val4143=) c.12426C>T (p.Val4142=) c.12405C>T (p.Val4135=) c.12399C>T (p.Val4133=) c.12393C>T (p.Val4131=) c.12369C>T (p.Val4123=) c.12192C>T (p.Val4064=) c.12336C>T (p.Val4112=) c.12408C>T (p.Val4136=) | gnomAD v4 |
1 | g.237784088C>A | CA345413080 | RYR2 | c.*3468C>A (n.*3468C>A) c.12364C>A (p.Leu4122Met) c.12397C>A (p.Leu4133Met) c.4553C>A c.12376C>A (p.Leu4126Met) c.2429C>A c.12328C>A (p.Leu4110Met) n.3571C>A c.12430C>A (p.Leu4144Met) c.12427C>A (p.Leu4143Met) c.12406C>A (p.Leu4136Met) c.12400C>A (p.Leu4134Met) c.12394C>A (p.Leu4132Met) c.12370C>A (p.Leu4124Met) c.12193C>A (p.Leu4065Met) c.12337C>A (p.Leu4113Met) c.12409C>A (p.Leu4137Met) | |
1 | g.237784088C= | CA2487482380 | RYR2 | c.*3468C= (n.*3468C=) c.12364C= (p.Leu4122=) c.12397C= (p.Leu4133=) c.4553C= c.12376C= (p.Leu4126=) c.2429C= c.12328C= (p.Leu4110=) n.3571C= c.12430C= (p.Leu4144=) c.12427C= (p.Leu4143=) c.12406C= (p.Leu4136=) c.12400C= (p.Leu4134=) c.12394C= (p.Leu4132=) c.12370C= (p.Leu4124=) c.12193C= (p.Leu4065=) c.12337C= (p.Leu4113=) c.12409C= (p.Leu4137=) | |
1 | g.237784088C>G | CA345413081 | RYR2 | c.*3468C>G (n.*3468C>G) c.12364C>G (p.Leu4122Val) c.12397C>G (p.Leu4133Val) c.4553C>G c.12376C>G (p.Leu4126Val) c.2429C>G c.12328C>G (p.Leu4110Val) n.3571C>G c.12430C>G (p.Leu4144Val) c.12427C>G (p.Leu4143Val) c.12406C>G (p.Leu4136Val) c.12400C>G (p.Leu4134Val) c.12394C>G (p.Leu4132Val) c.12370C>G (p.Leu4124Val) c.12193C>G (p.Leu4065Val) c.12337C>G (p.Leu4113Val) c.12409C>G (p.Leu4137Val) | |
1 | g.237784088C>T | CA39827544 | RYR2 | c.*3468C>T (n.*3468C>T) c.12364C>T (p.Leu4122=) c.12397C>T (p.Leu4133=) c.4553C>T c.12376C>T (p.Leu4126=) c.2429C>T c.12328C>T (p.Leu4110=) n.3571C>T c.12430C>T (p.Leu4144=) c.12427C>T (p.Leu4143=) c.12406C>T (p.Leu4136=) c.12400C>T (p.Leu4134=) c.12394C>T (p.Leu4132=) c.12370C>T (p.Leu4124=) c.12193C>T (p.Leu4065=) c.12337C>T (p.Leu4113=) c.12409C>T (p.Leu4137=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.237784089T>A | CA345413082 | RYR2 | c.*3469T>A (n.*3469T>A) c.12365T>A (p.Leu4122Gln) c.12398T>A (p.Leu4133Gln) c.4554T>A c.12377T>A (p.Leu4126Gln) c.2430T>A c.12329T>A (p.Leu4110Gln) n.3572T>A c.12431T>A (p.Leu4144Gln) c.12428T>A (p.Leu4143Gln) c.12407T>A (p.Leu4136Gln) c.12401T>A (p.Leu4134Gln) c.12395T>A (p.Leu4132Gln) c.12371T>A (p.Leu4124Gln) c.12194T>A (p.Leu4065Gln) c.12338T>A (p.Leu4113Gln) c.12410T>A (p.Leu4137Gln) | |
1 | g.237784089T>C | CA345413083 | RYR2 | c.*3469T>C (n.*3469T>C) c.12365T>C (p.Leu4122Pro) c.12398T>C (p.Leu4133Pro) c.4554T>C c.12377T>C (p.Leu4126Pro) c.2430T>C c.12329T>C (p.Leu4110Pro) n.3572T>C c.12431T>C (p.Leu4144Pro) c.12428T>C (p.Leu4143Pro) c.12407T>C (p.Leu4136Pro) c.12401T>C (p.Leu4134Pro) c.12395T>C (p.Leu4132Pro) c.12371T>C (p.Leu4124Pro) c.12194T>C (p.Leu4065Pro) c.12338T>C (p.Leu4113Pro) c.12410T>C (p.Leu4137Pro) | |
1 | g.237784089T>G | CA345413084 | RYR2 | c.*3469T>G (n.*3469T>G) c.12365T>G (p.Leu4122Arg) c.12398T>G (p.Leu4133Arg) c.4554T>G c.12377T>G (p.Leu4126Arg) c.2430T>G c.12329T>G (p.Leu4110Arg) n.3572T>G c.12431T>G (p.Leu4144Arg) c.12428T>G (p.Leu4143Arg) c.12407T>G (p.Leu4136Arg) c.12401T>G (p.Leu4134Arg) c.12395T>G (p.Leu4132Arg) c.12371T>G (p.Leu4124Arg) c.12194T>G (p.Leu4065Arg) c.12338T>G (p.Leu4113Arg) c.12410T>G (p.Leu4137Arg) | ClinVar dbSNP |
1 | g.237784089T= | CA2487482381 | RYR2 | c.*3469T= (n.*3469T=) c.12365T= (p.Leu4122=) c.12398T= (p.Leu4133=) c.4554T= c.12377T= (p.Leu4126=) c.2430T= c.12329T= (p.Leu4110=) n.3572T= c.12431T= (p.Leu4144=) c.12428T= (p.Leu4143=) c.12407T= (p.Leu4136=) c.12401T= (p.Leu4134=) c.12395T= (p.Leu4132=) c.12371T= (p.Leu4124=) c.12194T= (p.Leu4065=) c.12338T= (p.Leu4113=) c.12410T= (p.Leu4137=) | |
1 | g.237784090G>A | CA424032091 | RYR2 | c.*3470G>A (n.*3470G>A) c.12366G>A (p.Leu4122=) c.12399G>A (p.Leu4133=) c.4555G>A c.12378G>A (p.Leu4126=) c.2431G>A c.12330G>A (p.Leu4110=) n.3573G>A c.12432G>A (p.Leu4144=) c.12429G>A (p.Leu4143=) c.12408G>A (p.Leu4136=) c.12402G>A (p.Leu4134=) c.12396G>A (p.Leu4132=) c.12372G>A (p.Leu4124=) c.12195G>A (p.Leu4065=) c.12339G>A (p.Leu4113=) c.12411G>A (p.Leu4137=) | ClinVar COSMIC COSMIC |
1 | g.237784090G>C | CA424032092 | RYR2 | c.*3470G>C (n.*3470G>C) c.12366G>C (p.Leu4122=) c.12399G>C (p.Leu4133=) c.4555G>C c.12378G>C (p.Leu4126=) c.2431G>C c.12330G>C (p.Leu4110=) n.3573G>C c.12432G>C (p.Leu4144=) c.12429G>C (p.Leu4143=) c.12408G>C (p.Leu4136=) c.12402G>C (p.Leu4134=) c.12396G>C (p.Leu4132=) c.12372G>C (p.Leu4124=) c.12195G>C (p.Leu4065=) c.12339G>C (p.Leu4113=) c.12411G>C (p.Leu4137=) | ClinVar dbSNP |
1 | g.237784090G= | CA2487482382 | RYR2 | c.*3470G= (n.*3470G=) c.12366G= (p.Leu4122=) c.12399G= (p.Leu4133=) c.4555G= c.12378G= (p.Leu4126=) c.2431G= c.12330G= (p.Leu4110=) n.3573G= c.12432G= (p.Leu4144=) c.12429G= (p.Leu4143=) c.12408G= (p.Leu4136=) c.12402G= (p.Leu4134=) c.12396G= (p.Leu4132=) c.12372G= (p.Leu4124=) c.12195G= (p.Leu4065=) c.12339G= (p.Leu4113=) c.12411G= (p.Leu4137=) | |
1 | g.237784090G>T | CA39827547 | RYR2 | c.*3470G>T (n.*3470G>T) c.12366G>T (p.Leu4122=) c.12399G>T (p.Leu4133=) c.4555G>T c.12378G>T (p.Leu4126=) c.2431G>T c.12330G>T (p.Leu4110=) n.3573G>T c.12432G>T (p.Leu4144=) c.12429G>T (p.Leu4143=) c.12408G>T (p.Leu4136=) c.12402G>T (p.Leu4134=) c.12396G>T (p.Leu4132=) c.12372G>T (p.Leu4124=) c.12195G>T (p.Leu4065=) c.12339G>T (p.Leu4113=) c.12411G>T (p.Leu4137=) | dbSNP |
1 | g.237784091A= | CA1148225104 | RYR2 | c.*3471A= (n.*3471A=) c.12367A= (p.Asn4123=) c.12400A= (p.Asn4134=) c.4556A= c.12379A= (p.Asn4127=) c.2432A= c.12331A= (p.Asn4111=) n.3574A= c.12433A= (p.Asn4145=) c.12430A= (p.Asn4144=) c.12409A= (p.Asn4137=) c.12403A= (p.Asn4135=) c.12397A= (p.Asn4133=) c.12373A= (p.Asn4125=) c.12196A= (p.Asn4066=) c.12340A= (p.Asn4114=) c.12412A= (p.Asn4138=) | |
1 | g.237784091A>C | CA007502 | RYR2 | c.*3471A>C (n.*3471A>C) c.12367A>C (p.Asn4123His) c.12400A>C (p.Asn4134His) c.4556A>C c.12379A>C (p.Asn4127His) c.2432A>C c.12331A>C (p.Asn4111His) n.3574A>C c.12433A>C (p.Asn4145His) c.12430A>C (p.Asn4144His) c.12409A>C (p.Asn4137His) c.12403A>C (p.Asn4135His) c.12397A>C (p.Asn4133His) c.12373A>C (p.Asn4125His) c.12196A>C (p.Asn4066His) c.12340A>C (p.Asn4114His) c.12412A>C (p.Asn4138His) | ClinVar dbSNP |
1 | g.237784091A>G | CA345413086 | RYR2 | c.*3471A>G (n.*3471A>G) c.12367A>G (p.Asn4123Asp) c.12400A>G (p.Asn4134Asp) c.4556A>G c.12379A>G (p.Asn4127Asp) c.2432A>G c.12331A>G (p.Asn4111Asp) n.3574A>G c.12433A>G (p.Asn4145Asp) c.12430A>G (p.Asn4144Asp) c.12409A>G (p.Asn4137Asp) c.12403A>G (p.Asn4135Asp) c.12397A>G (p.Asn4133Asp) c.12373A>G (p.Asn4125Asp) c.12196A>G (p.Asn4066Asp) c.12340A>G (p.Asn4114Asp) c.12412A>G (p.Asn4138Asp) | |
1 | g.237784091A>T | CA345413085 | RYR2 | c.*3471A>T (n.*3471A>T) c.12367A>T (p.Asn4123Tyr) c.12400A>T (p.Asn4134Tyr) c.4556A>T c.12379A>T (p.Asn4127Tyr) c.2432A>T c.12331A>T (p.Asn4111Tyr) n.3574A>T c.12433A>T (p.Asn4145Tyr) c.12430A>T (p.Asn4144Tyr) c.12409A>T (p.Asn4137Tyr) c.12403A>T (p.Asn4135Tyr) c.12397A>T (p.Asn4133Tyr) c.12373A>T (p.Asn4125Tyr) c.12196A>T (p.Asn4066Tyr) c.12340A>T (p.Asn4114Tyr) c.12412A>T (p.Asn4138Tyr) | |
1 | g.237784092A>C | CA345413087 | RYR2 | c.*3472A>C (n.*3472A>C) c.12368A>C (p.Asn4123Thr) c.12401A>C (p.Asn4134Thr) c.4557A>C c.12380A>C (p.Asn4127Thr) c.2433A>C c.12332A>C (p.Asn4111Thr) n.3575A>C c.12434A>C (p.Asn4145Thr) c.12431A>C (p.Asn4144Thr) c.12410A>C (p.Asn4137Thr) c.12404A>C (p.Asn4135Thr) c.12398A>C (p.Asn4133Thr) c.12374A>C (p.Asn4125Thr) c.12197A>C (p.Asn4066Thr) c.12341A>C (p.Asn4114Thr) c.12413A>C (p.Asn4138Thr) | |
1 | g.237784092A>G | CA345413088 | RYR2 | c.*3472A>G (n.*3472A>G) c.12368A>G (p.Asn4123Ser) c.12401A>G (p.Asn4134Ser) c.4557A>G c.12380A>G (p.Asn4127Ser) c.2433A>G c.12332A>G (p.Asn4111Ser) n.3575A>G c.12434A>G (p.Asn4145Ser) c.12431A>G (p.Asn4144Ser) c.12410A>G (p.Asn4137Ser) c.12404A>G (p.Asn4135Ser) c.12398A>G (p.Asn4133Ser) c.12374A>G (p.Asn4125Ser) c.12197A>G (p.Asn4066Ser) c.12341A>G (p.Asn4114Ser) c.12413A>G (p.Asn4138Ser) | |
1 | g.237784092A>T | CA345413089 | RYR2 | c.*3472A>T (n.*3472A>T) c.12368A>T (p.Asn4123Ile) c.12401A>T (p.Asn4134Ile) c.4557A>T c.12380A>T (p.Asn4127Ile) c.2433A>T c.12332A>T (p.Asn4111Ile) n.3575A>T c.12434A>T (p.Asn4145Ile) c.12431A>T (p.Asn4144Ile) c.12410A>T (p.Asn4137Ile) c.12404A>T (p.Asn4135Ile) c.12398A>T (p.Asn4133Ile) c.12374A>T (p.Asn4125Ile) c.12197A>T (p.Asn4066Ile) c.12341A>T (p.Asn4114Ile) c.12413A>T (p.Asn4138Ile) | |
1 | g.237784093T>A | CA345413090 | RYR2 | c.*3473T>A (n.*3473T>A) c.12369T>A (p.Asn4123Lys) c.12402T>A (p.Asn4134Lys) c.4558T>A c.12381T>A (p.Asn4127Lys) c.2434T>A c.12333T>A (p.Asn4111Lys) n.3576T>A c.12435T>A (p.Asn4145Lys) c.12432T>A (p.Asn4144Lys) c.12411T>A (p.Asn4137Lys) c.12405T>A (p.Asn4135Lys) c.12399T>A (p.Asn4133Lys) c.12375T>A (p.Asn4125Lys) c.12198T>A (p.Asn4066Lys) c.12342T>A (p.Asn4114Lys) c.12414T>A (p.Asn4138Lys) | |
1 | g.237784093T>C | CA424032099 | RYR2 | c.*3473T>C (n.*3473T>C) c.12369T>C (p.Asn4123=) c.12402T>C (p.Asn4134=) c.4558T>C c.12381T>C (p.Asn4127=) c.2434T>C c.12333T>C (p.Asn4111=) n.3576T>C c.12435T>C (p.Asn4145=) c.12432T>C (p.Asn4144=) c.12411T>C (p.Asn4137=) c.12405T>C (p.Asn4135=) c.12399T>C (p.Asn4133=) c.12375T>C (p.Asn4125=) c.12198T>C (p.Asn4066=) c.12342T>C (p.Asn4114=) c.12414T>C (p.Asn4138=) | |
1 | g.237784093T>G | CA345413091 | RYR2 | c.*3473T>G (n.*3473T>G) c.12369T>G (p.Asn4123Lys) c.12402T>G (p.Asn4134Lys) c.4558T>G c.12381T>G (p.Asn4127Lys) c.2434T>G c.12333T>G (p.Asn4111Lys) n.3576T>G c.12435T>G (p.Asn4145Lys) c.12432T>G (p.Asn4144Lys) c.12411T>G (p.Asn4137Lys) c.12405T>G (p.Asn4135Lys) c.12399T>G (p.Asn4133Lys) c.12375T>G (p.Asn4125Lys) c.12198T>G (p.Asn4066Lys) c.12342T>G (p.Asn4114Lys) c.12414T>G (p.Asn4138Lys) | |
1 | g.237784094T>A | CA345413092 | RYR2 | c.*3474T>A (n.*3474T>A) c.12370T>A (p.Tyr4124Asn) c.12403T>A (p.Tyr4135Asn) c.4559T>A c.12382T>A (p.Tyr4128Asn) c.2435T>A c.12334T>A (p.Tyr4112Asn) n.3577T>A c.12436T>A (p.Tyr4146Asn) c.12433T>A (p.Tyr4145Asn) c.12412T>A (p.Tyr4138Asn) c.12406T>A (p.Tyr4136Asn) c.12400T>A (p.Tyr4134Asn) c.12376T>A (p.Tyr4126Asn) c.12199T>A (p.Tyr4067Asn) c.12343T>A (p.Tyr4115Asn) c.12415T>A (p.Tyr4139Asn) | |
1 | g.237784094T>C | CA345413093 | RYR2 | c.*3474T>C (n.*3474T>C) c.12370T>C (p.Tyr4124His) c.12403T>C (p.Tyr4135His) c.4559T>C c.12382T>C (p.Tyr4128His) c.2435T>C c.12334T>C (p.Tyr4112His) n.3577T>C c.12436T>C (p.Tyr4146His) c.12433T>C (p.Tyr4145His) c.12412T>C (p.Tyr4138His) c.12406T>C (p.Tyr4136His) c.12400T>C (p.Tyr4134His) c.12376T>C (p.Tyr4126His) c.12199T>C (p.Tyr4067His) c.12343T>C (p.Tyr4115His) c.12415T>C (p.Tyr4139His) | |
1 | g.237784094T>G | CA345413094 | RYR2 | c.*3474T>G (n.*3474T>G) c.12370T>G (p.Tyr4124Asp) c.12403T>G (p.Tyr4135Asp) c.4559T>G c.12382T>G (p.Tyr4128Asp) c.2435T>G c.12334T>G (p.Tyr4112Asp) n.3577T>G c.12436T>G (p.Tyr4146Asp) c.12433T>G (p.Tyr4145Asp) c.12412T>G (p.Tyr4138Asp) c.12406T>G (p.Tyr4136Asp) c.12400T>G (p.Tyr4134Asp) c.12376T>G (p.Tyr4126Asp) c.12199T>G (p.Tyr4067Asp) c.12343T>G (p.Tyr4115Asp) c.12415T>G (p.Tyr4139Asp) | |
1 | g.237784095A>C | CA345413095 | RYR2 | c.*3475A>C (n.*3475A>C) c.12371A>C (p.Tyr4124Ser) c.12404A>C (p.Tyr4135Ser) c.4560A>C c.12383A>C (p.Tyr4128Ser) c.2436A>C c.12335A>C (p.Tyr4112Ser) n.3578A>C c.12437A>C (p.Tyr4146Ser) c.12434A>C (p.Tyr4145Ser) c.12413A>C (p.Tyr4138Ser) c.12407A>C (p.Tyr4136Ser) c.12401A>C (p.Tyr4134Ser) c.12377A>C (p.Tyr4126Ser) c.12200A>C (p.Tyr4067Ser) c.12344A>C (p.Tyr4115Ser) c.12416A>C (p.Tyr4139Ser) | |
1 | g.237784095A>G | CA345413096 | RYR2 | c.*3475A>G (n.*3475A>G) c.12371A>G (p.Tyr4124Cys) c.12404A>G (p.Tyr4135Cys) c.4560A>G c.12383A>G (p.Tyr4128Cys) c.2436A>G c.12335A>G (p.Tyr4112Cys) n.3578A>G c.12437A>G (p.Tyr4146Cys) c.12434A>G (p.Tyr4145Cys) c.12413A>G (p.Tyr4138Cys) c.12407A>G (p.Tyr4136Cys) c.12401A>G (p.Tyr4134Cys) c.12377A>G (p.Tyr4126Cys) c.12200A>G (p.Tyr4067Cys) c.12344A>G (p.Tyr4115Cys) c.12416A>G (p.Tyr4139Cys) | |
1 | g.237784095A>T | CA345413097 | RYR2 | c.*3475A>T (n.*3475A>T) c.12371A>T (p.Tyr4124Phe) c.12404A>T (p.Tyr4135Phe) c.4560A>T c.12383A>T (p.Tyr4128Phe) c.2436A>T c.12335A>T (p.Tyr4112Phe) n.3578A>T c.12437A>T (p.Tyr4146Phe) c.12434A>T (p.Tyr4145Phe) c.12413A>T (p.Tyr4138Phe) c.12407A>T (p.Tyr4136Phe) c.12401A>T (p.Tyr4134Phe) c.12377A>T (p.Tyr4126Phe) c.12200A>T (p.Tyr4067Phe) c.12344A>T (p.Tyr4115Phe) c.12416A>T (p.Tyr4139Phe) | |
1 | g.237784096T>A | CA345413098 | RYR2 | c.*3476T>A (n.*3476T>A) c.12372T>A (p.Tyr4124Ter) c.12405T>A (p.Tyr4135Ter) c.4561T>A c.12384T>A (p.Tyr4128Ter) c.2437T>A c.12336T>A (p.Tyr4112Ter) n.3579T>A c.12438T>A (p.Tyr4146Ter) c.12435T>A (p.Tyr4145Ter) c.12414T>A (p.Tyr4138Ter) c.12408T>A (p.Tyr4136Ter) c.12402T>A (p.Tyr4134Ter) c.12378T>A (p.Tyr4126Ter) c.12201T>A (p.Tyr4067Ter) c.12345T>A (p.Tyr4115Ter) c.12417T>A (p.Tyr4139Ter) | |
1 | g.237784096T>C | CA424032103 | RYR2 | c.*3476T>C (n.*3476T>C) c.12372T>C (p.Tyr4124=) c.12405T>C (p.Tyr4135=) c.4561T>C c.12384T>C (p.Tyr4128=) c.2437T>C c.12336T>C (p.Tyr4112=) n.3579T>C c.12438T>C (p.Tyr4146=) c.12435T>C (p.Tyr4145=) c.12414T>C (p.Tyr4138=) c.12408T>C (p.Tyr4136=) c.12402T>C (p.Tyr4134=) c.12378T>C (p.Tyr4126=) c.12201T>C (p.Tyr4067=) c.12345T>C (p.Tyr4115=) c.12417T>C (p.Tyr4139=) | |
1 | g.237784096T>G | CA345413099 | RYR2 | c.*3476T>G (n.*3476T>G) c.12372T>G (p.Tyr4124Ter) c.12405T>G (p.Tyr4135Ter) c.4561T>G c.12384T>G (p.Tyr4128Ter) c.2437T>G c.12336T>G (p.Tyr4112Ter) n.3579T>G c.12438T>G (p.Tyr4146Ter) c.12435T>G (p.Tyr4145Ter) c.12414T>G (p.Tyr4138Ter) c.12408T>G (p.Tyr4136Ter) c.12402T>G (p.Tyr4134Ter) c.12378T>G (p.Tyr4126Ter) c.12201T>G (p.Tyr4067Ter) c.12345T>G (p.Tyr4115Ter) c.12417T>G (p.Tyr4139Ter) | |
1 | g.237784098del | CA2580062461 | RYR2 | c.*3478del (n.*3478del) c.12374del (p.Phe4125SerfsTer?) c.12407del (p.Phe4136SerfsTer?) c.4563del c.12386del (p.Phe4129SerfsTer?) c.2439del c.12338del (p.Phe4113SerfsTer?) n.3581del c.12440del (p.Phe4147SerfsTer?) c.12437del (p.Phe4146SerfsTer?) c.12416del (p.Phe4139SerfsTer?) c.12410del (p.Phe4137SerfsTer?) c.12404del (p.Phe4135SerfsTer?) c.12380del (p.Phe4127SerfsTer?) c.12203del (p.Phe4068SerfsTer?) c.12347del (p.Phe4116SerfsTer?) c.12419del (p.Phe4140SerfsTer?) | ClinVar |
1 | g.237784097T>A | CA345413100 | RYR2 | c.*3477T>A (n.*3477T>A) c.12373T>A (p.Phe4125Ile) c.12406T>A (p.Phe4136Ile) c.4562T>A c.12385T>A (p.Phe4129Ile) c.2438T>A c.12337T>A (p.Phe4113Ile) n.3580T>A c.12439T>A (p.Phe4147Ile) c.12436T>A (p.Phe4146Ile) c.12415T>A (p.Phe4139Ile) c.12409T>A (p.Phe4137Ile) c.12403T>A (p.Phe4135Ile) c.12379T>A (p.Phe4127Ile) c.12202T>A (p.Phe4068Ile) c.12346T>A (p.Phe4116Ile) c.12418T>A (p.Phe4140Ile) | |
1 | g.237784097T>C | CA345413102 | RYR2 | c.*3477T>C (n.*3477T>C) c.12373T>C (p.Phe4125Leu) c.12406T>C (p.Phe4136Leu) c.4562T>C c.12385T>C (p.Phe4129Leu) c.2438T>C c.12337T>C (p.Phe4113Leu) n.3580T>C c.12439T>C (p.Phe4147Leu) c.12436T>C (p.Phe4146Leu) c.12415T>C (p.Phe4139Leu) c.12409T>C (p.Phe4137Leu) c.12403T>C (p.Phe4135Leu) c.12379T>C (p.Phe4127Leu) c.12202T>C (p.Phe4068Leu) c.12346T>C (p.Phe4116Leu) c.12418T>C (p.Phe4140Leu) | ClinVar dbSNP |
1 | g.237784097T>G | CA345413101 | RYR2 | c.*3477T>G (n.*3477T>G) c.12373T>G (p.Phe4125Val) c.12406T>G (p.Phe4136Val) c.4562T>G c.12385T>G (p.Phe4129Val) c.2438T>G c.12337T>G (p.Phe4113Val) n.3580T>G c.12439T>G (p.Phe4147Val) c.12436T>G (p.Phe4146Val) c.12415T>G (p.Phe4139Val) c.12409T>G (p.Phe4137Val) c.12403T>G (p.Phe4135Val) c.12379T>G (p.Phe4127Val) c.12202T>G (p.Phe4068Val) c.12346T>G (p.Phe4116Val) c.12418T>G (p.Phe4140Val) | ClinVar dbSNP |
1 | g.237784097T= | CA2487482383 | RYR2 | c.*3477T= (n.*3477T=) c.12373T= (p.Phe4125=) c.12406T= (p.Phe4136=) c.4562T= c.12385T= (p.Phe4129=) c.2438T= c.12337T= (p.Phe4113=) n.3580T= c.12439T= (p.Phe4147=) c.12436T= (p.Phe4146=) c.12415T= (p.Phe4139=) c.12409T= (p.Phe4137=) c.12403T= (p.Phe4135=) c.12379T= (p.Phe4127=) c.12202T= (p.Phe4068=) c.12346T= (p.Phe4116=) c.12418T= (p.Phe4140=) | |
1 | g.237784098T>A | CA345413103 | RYR2 | c.*3478T>A (n.*3478T>A) c.12374T>A (p.Phe4125Tyr) c.12407T>A (p.Phe4136Tyr) c.4563T>A c.12386T>A (p.Phe4129Tyr) c.2439T>A c.12338T>A (p.Phe4113Tyr) n.3581T>A c.12440T>A (p.Phe4147Tyr) c.12437T>A (p.Phe4146Tyr) c.12416T>A (p.Phe4139Tyr) c.12410T>A (p.Phe4137Tyr) c.12404T>A (p.Phe4135Tyr) c.12380T>A (p.Phe4127Tyr) c.12203T>A (p.Phe4068Tyr) c.12347T>A (p.Phe4116Tyr) c.12419T>A (p.Phe4140Tyr) | |
1 | g.237784098T>C | CA345413104 | RYR2 | c.*3478T>C (n.*3478T>C) c.12374T>C (p.Phe4125Ser) c.12407T>C (p.Phe4136Ser) c.4563T>C c.12386T>C (p.Phe4129Ser) c.2439T>C c.12338T>C (p.Phe4113Ser) n.3581T>C c.12440T>C (p.Phe4147Ser) c.12437T>C (p.Phe4146Ser) c.12416T>C (p.Phe4139Ser) c.12410T>C (p.Phe4137Ser) c.12404T>C (p.Phe4135Ser) c.12380T>C (p.Phe4127Ser) c.12203T>C (p.Phe4068Ser) c.12347T>C (p.Phe4116Ser) c.12419T>C (p.Phe4140Ser) | |
1 | g.237784098T>G | CA345413105 | RYR2 | c.*3478T>G (n.*3478T>G) c.12374T>G (p.Phe4125Cys) c.12407T>G (p.Phe4136Cys) c.4563T>G c.12386T>G (p.Phe4129Cys) c.2439T>G c.12338T>G (p.Phe4113Cys) n.3581T>G c.12440T>G (p.Phe4147Cys) c.12437T>G (p.Phe4146Cys) c.12416T>G (p.Phe4139Cys) c.12410T>G (p.Phe4137Cys) c.12404T>G (p.Phe4135Cys) c.12380T>G (p.Phe4127Cys) c.12203T>G (p.Phe4068Cys) c.12347T>G (p.Phe4116Cys) c.12419T>G (p.Phe4140Cys) | |
1 | g.237784099C>A | CA345413106 | RYR2 | c.*3479C>A (n.*3479C>A) c.12375C>A (p.Phe4125Leu) c.12408C>A (p.Phe4136Leu) c.4564C>A c.12387C>A (p.Phe4129Leu) c.2440C>A c.12339C>A (p.Phe4113Leu) n.3582C>A c.12441C>A (p.Phe4147Leu) c.12438C>A (p.Phe4146Leu) c.12417C>A (p.Phe4139Leu) c.12411C>A (p.Phe4137Leu) c.12405C>A (p.Phe4135Leu) c.12381C>A (p.Phe4127Leu) c.12204C>A (p.Phe4068Leu) c.12348C>A (p.Phe4116Leu) c.12420C>A (p.Phe4140Leu) | |
1 | g.237784099C= | CA2487482384 | RYR2 | c.*3479C= (n.*3479C=) c.12375C= (p.Phe4125=) c.12408C= (p.Phe4136=) c.4564C= c.12387C= (p.Phe4129=) c.2440C= c.12339C= (p.Phe4113=) n.3582C= c.12441C= (p.Phe4147=) c.12438C= (p.Phe4146=) c.12417C= (p.Phe4139=) c.12411C= (p.Phe4137=) c.12405C= (p.Phe4135=) c.12381C= (p.Phe4127=) c.12204C= (p.Phe4068=) c.12348C= (p.Phe4116=) c.12420C= (p.Phe4140=) | |
1 | g.237784099C>G | CA345413107 | RYR2 | c.*3479C>G (n.*3479C>G) c.12375C>G (p.Phe4125Leu) c.12408C>G (p.Phe4136Leu) c.4564C>G c.12387C>G (p.Phe4129Leu) c.2440C>G c.12339C>G (p.Phe4113Leu) n.3582C>G c.12441C>G (p.Phe4147Leu) c.12438C>G (p.Phe4146Leu) c.12417C>G (p.Phe4139Leu) c.12411C>G (p.Phe4137Leu) c.12405C>G (p.Phe4135Leu) c.12381C>G (p.Phe4127Leu) c.12204C>G (p.Phe4068Leu) c.12348C>G (p.Phe4116Leu) c.12420C>G (p.Phe4140Leu) | gnomAD v4 |
1 | g.237784099C>T | CA424032107 | RYR2 | c.*3479C>T (n.*3479C>T) c.12375C>T (p.Phe4125=) c.12408C>T (p.Phe4136=) c.4564C>T c.12387C>T (p.Phe4129=) c.2440C>T c.12339C>T (p.Phe4113=) n.3582C>T c.12441C>T (p.Phe4147=) c.12438C>T (p.Phe4146=) c.12417C>T (p.Phe4139=) c.12411C>T (p.Phe4137=) c.12405C>T (p.Phe4135=) c.12381C>T (p.Phe4127=) c.12204C>T (p.Phe4068=) c.12348C>T (p.Phe4116=) c.12420C>T (p.Phe4140=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784100C>A | CA345413108 | RYR2 | c.*3480C>A (n.*3480C>A) c.12376C>A (p.Gln4126Lys) c.12409C>A (p.Gln4137Lys) c.4565C>A c.12388C>A (p.Gln4130Lys) c.2441C>A c.12340C>A (p.Gln4114Lys) n.3583C>A c.12442C>A (p.Gln4148Lys) c.12439C>A (p.Gln4147Lys) c.12418C>A (p.Gln4140Lys) c.12412C>A (p.Gln4138Lys) c.12406C>A (p.Gln4136Lys) c.12382C>A (p.Gln4128Lys) c.12205C>A (p.Gln4069Lys) c.12349C>A (p.Gln4117Lys) c.12421C>A (p.Gln4141Lys) | |
1 | g.237784100C>G | CA345413109 | RYR2 | c.*3480C>G (n.*3480C>G) c.12376C>G (p.Gln4126Glu) c.12409C>G (p.Gln4137Glu) c.4565C>G c.12388C>G (p.Gln4130Glu) c.2441C>G c.12340C>G (p.Gln4114Glu) n.3583C>G c.12442C>G (p.Gln4148Glu) c.12439C>G (p.Gln4147Glu) c.12418C>G (p.Gln4140Glu) c.12412C>G (p.Gln4138Glu) c.12406C>G (p.Gln4136Glu) c.12382C>G (p.Gln4128Glu) c.12205C>G (p.Gln4069Glu) c.12349C>G (p.Gln4117Glu) c.12421C>G (p.Gln4141Glu) | |
1 | g.237784100C>T | CA345413110 | RYR2 | c.*3480C>T (n.*3480C>T) c.12376C>T (p.Gln4126Ter) c.12409C>T (p.Gln4137Ter) c.4565C>T c.12388C>T (p.Gln4130Ter) c.2441C>T c.12340C>T (p.Gln4114Ter) n.3583C>T c.12442C>T (p.Gln4148Ter) c.12439C>T (p.Gln4147Ter) c.12418C>T (p.Gln4140Ter) c.12412C>T (p.Gln4138Ter) c.12406C>T (p.Gln4136Ter) c.12382C>T (p.Gln4128Ter) c.12205C>T (p.Gln4069Ter) c.12349C>T (p.Gln4117Ter) c.12421C>T (p.Gln4141Ter) | |
1 | g.237784101A>C | CA345413111 | RYR2 | c.*3481A>C (n.*3481A>C) c.12377A>C (p.Gln4126Pro) c.12410A>C (p.Gln4137Pro) c.4566A>C c.12389A>C (p.Gln4130Pro) c.2442A>C c.12341A>C (p.Gln4114Pro) n.3584A>C c.12443A>C (p.Gln4148Pro) c.12440A>C (p.Gln4147Pro) c.12419A>C (p.Gln4140Pro) c.12413A>C (p.Gln4138Pro) c.12407A>C (p.Gln4136Pro) c.12383A>C (p.Gln4128Pro) c.12206A>C (p.Gln4069Pro) c.12350A>C (p.Gln4117Pro) c.12422A>C (p.Gln4141Pro) | |
1 | g.237784101A>G | CA345413112 | RYR2 | c.*3481A>G (n.*3481A>G) c.12377A>G (p.Gln4126Arg) c.12410A>G (p.Gln4137Arg) c.4566A>G c.12389A>G (p.Gln4130Arg) c.2442A>G c.12341A>G (p.Gln4114Arg) n.3584A>G c.12443A>G (p.Gln4148Arg) c.12440A>G (p.Gln4147Arg) c.12419A>G (p.Gln4140Arg) c.12413A>G (p.Gln4138Arg) c.12407A>G (p.Gln4136Arg) c.12383A>G (p.Gln4128Arg) c.12206A>G (p.Gln4069Arg) c.12350A>G (p.Gln4117Arg) c.12422A>G (p.Gln4141Arg) | |
1 | g.237784101A>T | CA345413113 | RYR2 | c.*3481A>T (n.*3481A>T) c.12377A>T (p.Gln4126Leu) c.12410A>T (p.Gln4137Leu) c.4566A>T c.12389A>T (p.Gln4130Leu) c.2442A>T c.12341A>T (p.Gln4114Leu) n.3584A>T c.12443A>T (p.Gln4148Leu) c.12440A>T (p.Gln4147Leu) c.12419A>T (p.Gln4140Leu) c.12413A>T (p.Gln4138Leu) c.12407A>T (p.Gln4136Leu) c.12383A>T (p.Gln4128Leu) c.12206A>T (p.Gln4069Leu) c.12350A>T (p.Gln4117Leu) c.12422A>T (p.Gln4141Leu) | |
1 | g.237784102G>A | CA424032109 | RYR2 | c.*3482G>A (n.*3482G>A) c.12378G>A (p.Gln4126=) c.12411G>A (p.Gln4137=) c.4567G>A c.12390G>A (p.Gln4130=) c.2443G>A c.12342G>A (p.Gln4114=) n.3585G>A c.12444G>A (p.Gln4148=) c.12441G>A (p.Gln4147=) c.12420G>A (p.Gln4140=) c.12414G>A (p.Gln4138=) c.12408G>A (p.Gln4136=) c.12384G>A (p.Gln4128=) c.12207G>A (p.Gln4069=) c.12351G>A (p.Gln4117=) c.12423G>A (p.Gln4141=) | |
1 | g.237784102G>C | CA345413115 | RYR2 | c.*3482G>C (n.*3482G>C) c.12378G>C (p.Gln4126His) c.12411G>C (p.Gln4137His) c.4567G>C c.12390G>C (p.Gln4130His) c.2443G>C c.12342G>C (p.Gln4114His) n.3585G>C c.12444G>C (p.Gln4148His) c.12441G>C (p.Gln4147His) c.12420G>C (p.Gln4140His) c.12414G>C (p.Gln4138His) c.12408G>C (p.Gln4136His) c.12384G>C (p.Gln4128His) c.12207G>C (p.Gln4069His) c.12351G>C (p.Gln4117His) c.12423G>C (p.Gln4141His) | |
1 | g.237784102G>T | CA345413114 | RYR2 | c.*3482G>T (n.*3482G>T) c.12378G>T (p.Gln4126His) c.12411G>T (p.Gln4137His) c.4567G>T c.12390G>T (p.Gln4130His) c.2443G>T c.12342G>T (p.Gln4114His) n.3585G>T c.12444G>T (p.Gln4148His) c.12441G>T (p.Gln4147His) c.12420G>T (p.Gln4140His) c.12414G>T (p.Gln4138His) c.12408G>T (p.Gln4136His) c.12384G>T (p.Gln4128His) c.12207G>T (p.Gln4069His) c.12351G>T (p.Gln4117His) c.12423G>T (p.Gln4141His) | |
1 | g.237784102dup | CA2651213122 | RYR2 | c.*3482dup (n.*3482dup) c.12378dup (p.Pro4127AlafsTer21) c.12411dup (p.Pro4138AlafsTer21) c.4567dup c.12390dup (p.Pro4131AlafsTer21) c.2443dup c.12342dup (p.Pro4115AlafsTer21) n.3585dup c.12444dup (p.Pro4149AlafsTer21) c.12441dup (p.Pro4148AlafsTer21) c.12420dup (p.Pro4141AlafsTer21) c.12414dup (p.Pro4139AlafsTer21) c.12408dup (p.Pro4137AlafsTer21) c.12384dup (p.Pro4129AlafsTer21) c.12207dup (p.Pro4070AlafsTer21) c.12351dup (p.Pro4118AlafsTer21) c.12423dup (p.Pro4142AlafsTer21) | gnomAD v4 |
1 | g.237784103C>A | CA345413116 | RYR2 | c.*3483C>A (n.*3483C>A) c.12379C>A (p.Pro4127Thr) c.12412C>A (p.Pro4138Thr) c.4568C>A c.12391C>A (p.Pro4131Thr) c.2444C>A c.12343C>A (p.Pro4115Thr) n.3586C>A c.12445C>A (p.Pro4149Thr) c.12442C>A (p.Pro4148Thr) c.12421C>A (p.Pro4141Thr) c.12415C>A (p.Pro4139Thr) c.12409C>A (p.Pro4137Thr) c.12385C>A (p.Pro4129Thr) c.12208C>A (p.Pro4070Thr) c.12352C>A (p.Pro4118Thr) c.12424C>A (p.Pro4142Thr) | |
1 | g.237784103C>G | CA345413117 | RYR2 | c.*3483C>G (n.*3483C>G) c.12379C>G (p.Pro4127Ala) c.12412C>G (p.Pro4138Ala) c.4568C>G c.12391C>G (p.Pro4131Ala) c.2444C>G c.12343C>G (p.Pro4115Ala) n.3586C>G c.12445C>G (p.Pro4149Ala) c.12442C>G (p.Pro4148Ala) c.12421C>G (p.Pro4141Ala) c.12415C>G (p.Pro4139Ala) c.12409C>G (p.Pro4137Ala) c.12385C>G (p.Pro4129Ala) c.12208C>G (p.Pro4070Ala) c.12352C>G (p.Pro4118Ala) c.12424C>G (p.Pro4142Ala) | |
1 | g.237784103C>T | CA345413118 | RYR2 | c.*3483C>T (n.*3483C>T) c.12379C>T (p.Pro4127Ser) c.12412C>T (p.Pro4138Ser) c.4568C>T c.12391C>T (p.Pro4131Ser) c.2444C>T c.12343C>T (p.Pro4115Ser) n.3586C>T c.12445C>T (p.Pro4149Ser) c.12442C>T (p.Pro4148Ser) c.12421C>T (p.Pro4141Ser) c.12415C>T (p.Pro4139Ser) c.12409C>T (p.Pro4137Ser) c.12385C>T (p.Pro4129Ser) c.12208C>T (p.Pro4070Ser) c.12352C>T (p.Pro4118Ser) c.12424C>T (p.Pro4142Ser) | |
1 | g.237784104C>A | CA345413119 | RYR2 | c.*3484C>A (n.*3484C>A) c.12380C>A (p.Pro4127His) c.12413C>A (p.Pro4138His) c.4569C>A c.12392C>A (p.Pro4131His) c.2445C>A c.12344C>A (p.Pro4115His) n.3587C>A c.12446C>A (p.Pro4149His) c.12443C>A (p.Pro4148His) c.12422C>A (p.Pro4141His) c.12416C>A (p.Pro4139His) c.12410C>A (p.Pro4137His) c.12386C>A (p.Pro4129His) c.12209C>A (p.Pro4070His) c.12353C>A (p.Pro4118His) c.12425C>A (p.Pro4142His) | dbSNP |
1 | g.237784104C= | CA2487482385 | RYR2 | c.*3484C= (n.*3484C=) c.12380C= (p.Pro4127=) c.12413C= (p.Pro4138=) c.4569C= c.12392C= (p.Pro4131=) c.2445C= c.12344C= (p.Pro4115=) n.3587C= c.12446C= (p.Pro4149=) c.12443C= (p.Pro4148=) c.12422C= (p.Pro4141=) c.12416C= (p.Pro4139=) c.12410C= (p.Pro4137=) c.12386C= (p.Pro4129=) c.12209C= (p.Pro4070=) c.12353C= (p.Pro4118=) c.12425C= (p.Pro4142=) | |
1 | g.237784104C>G | CA345413120 | RYR2 | c.*3484C>G (n.*3484C>G) c.12380C>G (p.Pro4127Arg) c.12413C>G (p.Pro4138Arg) c.4569C>G c.12392C>G (p.Pro4131Arg) c.2445C>G c.12344C>G (p.Pro4115Arg) n.3587C>G c.12446C>G (p.Pro4149Arg) c.12443C>G (p.Pro4148Arg) c.12422C>G (p.Pro4141Arg) c.12416C>G (p.Pro4139Arg) c.12410C>G (p.Pro4137Arg) c.12386C>G (p.Pro4129Arg) c.12209C>G (p.Pro4070Arg) c.12353C>G (p.Pro4118Arg) c.12425C>G (p.Pro4142Arg) | |
1 | g.237784104C>T | CA345413121 | RYR2 | c.*3484C>T (n.*3484C>T) c.12380C>T (p.Pro4127Leu) c.12413C>T (p.Pro4138Leu) c.4569C>T c.12392C>T (p.Pro4131Leu) c.2445C>T c.12344C>T (p.Pro4115Leu) n.3587C>T c.12446C>T (p.Pro4149Leu) c.12443C>T (p.Pro4148Leu) c.12422C>T (p.Pro4141Leu) c.12416C>T (p.Pro4139Leu) c.12410C>T (p.Pro4137Leu) c.12386C>T (p.Pro4129Leu) c.12209C>T (p.Pro4070Leu) c.12353C>T (p.Pro4118Leu) c.12425C>T (p.Pro4142Leu) | ClinVar dbSNP |
1 | g.237784105C>A | CA424032115 | RYR2 | c.*3485C>A (n.*3485C>A) c.12381C>A (p.Pro4127=) c.12414C>A (p.Pro4138=) c.4570C>A c.12393C>A (p.Pro4131=) c.2446C>A c.12345C>A (p.Pro4115=) n.3588C>A c.12447C>A (p.Pro4149=) c.12444C>A (p.Pro4148=) c.12423C>A (p.Pro4141=) c.12417C>A (p.Pro4139=) c.12411C>A (p.Pro4137=) c.12387C>A (p.Pro4129=) c.12210C>A (p.Pro4070=) c.12354C>A (p.Pro4118=) c.12426C>A (p.Pro4142=) | |
1 | g.237784105C= | CA2487482386 | RYR2 | c.*3485C= (n.*3485C=) c.12381C= (p.Pro4127=) c.12414C= (p.Pro4138=) c.4570C= c.12393C= (p.Pro4131=) c.2446C= c.12345C= (p.Pro4115=) n.3588C= c.12447C= (p.Pro4149=) c.12444C= (p.Pro4148=) c.12423C= (p.Pro4141=) c.12417C= (p.Pro4139=) c.12411C= (p.Pro4137=) c.12387C= (p.Pro4129=) c.12210C= (p.Pro4070=) c.12354C= (p.Pro4118=) c.12426C= (p.Pro4142=) | |
1 | g.237784105C>G | CA424032116 | RYR2 | c.*3485C>G (n.*3485C>G) c.12381C>G (p.Pro4127=) c.12414C>G (p.Pro4138=) c.4570C>G c.12393C>G (p.Pro4131=) c.2446C>G c.12345C>G (p.Pro4115=) n.3588C>G c.12447C>G (p.Pro4149=) c.12444C>G (p.Pro4148=) c.12423C>G (p.Pro4141=) c.12417C>G (p.Pro4139=) c.12411C>G (p.Pro4137=) c.12387C>G (p.Pro4129=) c.12210C>G (p.Pro4070=) c.12354C>G (p.Pro4118=) c.12426C>G (p.Pro4142=) | dbSNP |
1 | g.237784105C>T | CA424032117 | RYR2 | c.*3485C>T (n.*3485C>T) c.12381C>T (p.Pro4127=) c.12414C>T (p.Pro4138=) c.4570C>T c.12393C>T (p.Pro4131=) c.2446C>T c.12345C>T (p.Pro4115=) n.3588C>T c.12447C>T (p.Pro4149=) c.12444C>T (p.Pro4148=) c.12423C>T (p.Pro4141=) c.12417C>T (p.Pro4139=) c.12411C>T (p.Pro4137=) c.12387C>T (p.Pro4129=) c.12210C>T (p.Pro4070=) c.12354C>T (p.Pro4118=) c.12426C>T (p.Pro4142=) | |
1 | g.237784106T>A | CA345413124 | RYR2 | c.*3486T>A (n.*3486T>A) c.12382T>A (p.Phe4128Ile) c.12415T>A (p.Phe4139Ile) c.4571T>A c.12394T>A (p.Phe4132Ile) c.2447T>A c.12346T>A (p.Phe4116Ile) n.3589T>A c.12448T>A (p.Phe4150Ile) c.12445T>A (p.Phe4149Ile) c.12424T>A (p.Phe4142Ile) c.12418T>A (p.Phe4140Ile) c.12412T>A (p.Phe4138Ile) c.12388T>A (p.Phe4130Ile) c.12211T>A (p.Phe4071Ile) c.12355T>A (p.Phe4119Ile) c.12427T>A (p.Phe4143Ile) | |
1 | g.237784106T>C | CA345413123 | RYR2 | c.*3486T>C (n.*3486T>C) c.12382T>C (p.Phe4128Leu) c.12415T>C (p.Phe4139Leu) c.4571T>C c.12394T>C (p.Phe4132Leu) c.2447T>C c.12346T>C (p.Phe4116Leu) n.3589T>C c.12448T>C (p.Phe4150Leu) c.12445T>C (p.Phe4149Leu) c.12424T>C (p.Phe4142Leu) c.12418T>C (p.Phe4140Leu) c.12412T>C (p.Phe4138Leu) c.12388T>C (p.Phe4130Leu) c.12211T>C (p.Phe4071Leu) c.12355T>C (p.Phe4119Leu) c.12427T>C (p.Phe4143Leu) | |
1 | g.237784106T>G | CA345413122 | RYR2 | c.*3486T>G (n.*3486T>G) c.12382T>G (p.Phe4128Val) c.12415T>G (p.Phe4139Val) c.4571T>G c.12394T>G (p.Phe4132Val) c.2447T>G c.12346T>G (p.Phe4116Val) n.3589T>G c.12448T>G (p.Phe4150Val) c.12445T>G (p.Phe4149Val) c.12424T>G (p.Phe4142Val) c.12418T>G (p.Phe4140Val) c.12412T>G (p.Phe4138Val) c.12388T>G (p.Phe4130Val) c.12211T>G (p.Phe4071Val) c.12355T>G (p.Phe4119Val) c.12427T>G (p.Phe4143Val) | |
1 | g.237784107T>A | CA345413125 | RYR2 | c.*3487T>A (n.*3487T>A) c.12383T>A (p.Phe4128Tyr) c.12416T>A (p.Phe4139Tyr) c.4572T>A c.12395T>A (p.Phe4132Tyr) c.2448T>A c.12347T>A (p.Phe4116Tyr) n.3590T>A c.12449T>A (p.Phe4150Tyr) c.12446T>A (p.Phe4149Tyr) c.12425T>A (p.Phe4142Tyr) c.12419T>A (p.Phe4140Tyr) c.12413T>A (p.Phe4138Tyr) c.12389T>A (p.Phe4130Tyr) c.12212T>A (p.Phe4071Tyr) c.12356T>A (p.Phe4119Tyr) c.12428T>A (p.Phe4143Tyr) | dbSNP gnomAD v4 |
1 | g.237784107T>C | CA345413126 | RYR2 | c.*3487T>C (n.*3487T>C) c.12383T>C (p.Phe4128Ser) c.12416T>C (p.Phe4139Ser) c.4572T>C c.12395T>C (p.Phe4132Ser) c.2448T>C c.12347T>C (p.Phe4116Ser) n.3590T>C c.12449T>C (p.Phe4150Ser) c.12446T>C (p.Phe4149Ser) c.12425T>C (p.Phe4142Ser) c.12419T>C (p.Phe4140Ser) c.12413T>C (p.Phe4138Ser) c.12389T>C (p.Phe4130Ser) c.12212T>C (p.Phe4071Ser) c.12356T>C (p.Phe4119Ser) c.12428T>C (p.Phe4143Ser) | |
1 | g.237784107T>G | CA345413127 | RYR2 | c.*3487T>G (n.*3487T>G) c.12383T>G (p.Phe4128Cys) c.12416T>G (p.Phe4139Cys) c.4572T>G c.12395T>G (p.Phe4132Cys) c.2448T>G c.12347T>G (p.Phe4116Cys) n.3590T>G c.12449T>G (p.Phe4150Cys) c.12446T>G (p.Phe4149Cys) c.12425T>G (p.Phe4142Cys) c.12419T>G (p.Phe4140Cys) c.12413T>G (p.Phe4138Cys) c.12389T>G (p.Phe4130Cys) c.12212T>G (p.Phe4071Cys) c.12356T>G (p.Phe4119Cys) c.12428T>G (p.Phe4143Cys) | |
1 | g.237784107T= | CA2487482387 | RYR2 | c.*3487T= (n.*3487T=) c.12383T= (p.Phe4128=) c.12416T= (p.Phe4139=) c.4572T= c.12395T= (p.Phe4132=) c.2448T= c.12347T= (p.Phe4116=) n.3590T= c.12449T= (p.Phe4150=) c.12446T= (p.Phe4149=) c.12425T= (p.Phe4142=) c.12419T= (p.Phe4140=) c.12413T= (p.Phe4138=) c.12389T= (p.Phe4130=) c.12212T= (p.Phe4071=) c.12356T= (p.Phe4119=) c.12428T= (p.Phe4143=) | |
1 | g.237784108T>A | CA345413128 | RYR2 | c.*3488T>A (n.*3488T>A) c.12384T>A (p.Phe4128Leu) c.12417T>A (p.Phe4139Leu) c.4573T>A c.12396T>A (p.Phe4132Leu) c.2449T>A c.12348T>A (p.Phe4116Leu) n.3591T>A c.12450T>A (p.Phe4150Leu) c.12447T>A (p.Phe4149Leu) c.12426T>A (p.Phe4142Leu) c.12420T>A (p.Phe4140Leu) c.12414T>A (p.Phe4138Leu) c.12390T>A (p.Phe4130Leu) c.12213T>A (p.Phe4071Leu) c.12357T>A (p.Phe4119Leu) c.12429T>A (p.Phe4143Leu) | gnomAD v4 |
1 | g.237784108T>C | CA424032123 | RYR2 | c.*3488T>C (n.*3488T>C) c.12384T>C (p.Phe4128=) c.12417T>C (p.Phe4139=) c.4573T>C c.12396T>C (p.Phe4132=) c.2449T>C c.12348T>C (p.Phe4116=) n.3591T>C c.12450T>C (p.Phe4150=) c.12447T>C (p.Phe4149=) c.12426T>C (p.Phe4142=) c.12420T>C (p.Phe4140=) c.12414T>C (p.Phe4138=) c.12390T>C (p.Phe4130=) c.12213T>C (p.Phe4071=) c.12357T>C (p.Phe4119=) c.12429T>C (p.Phe4143=) | |
1 | g.237784108T>G | CA345413129 | RYR2 | c.*3488T>G (n.*3488T>G) c.12384T>G (p.Phe4128Leu) c.12417T>G (p.Phe4139Leu) c.4573T>G c.12396T>G (p.Phe4132Leu) c.2449T>G c.12348T>G (p.Phe4116Leu) n.3591T>G c.12450T>G (p.Phe4150Leu) c.12447T>G (p.Phe4149Leu) c.12426T>G (p.Phe4142Leu) c.12420T>G (p.Phe4140Leu) c.12414T>G (p.Phe4138Leu) c.12390T>G (p.Phe4130Leu) c.12213T>G (p.Phe4071Leu) c.12357T>G (p.Phe4119Leu) c.12429T>G (p.Phe4143Leu) | |
1 | g.237784109C>A | CA345413130 | RYR2 | c.*3489C>A (n.*3489C>A) c.12385C>A (p.Leu4129Met) c.12418C>A (p.Leu4140Met) c.4574C>A c.12397C>A (p.Leu4133Met) c.2450C>A c.12349C>A (p.Leu4117Met) n.3592C>A c.12451C>A (p.Leu4151Met) c.12448C>A (p.Leu4150Met) c.12427C>A (p.Leu4143Met) c.12421C>A (p.Leu4141Met) c.12415C>A (p.Leu4139Met) c.12391C>A (p.Leu4131Met) c.12214C>A (p.Leu4072Met) c.12358C>A (p.Leu4120Met) c.12430C>A (p.Leu4144Met) | gnomAD v4 |
1 | g.237784109C= | CA2487482388 | RYR2 | c.*3489C= (n.*3489C=) c.12385C= (p.Leu4129=) c.12418C= (p.Leu4140=) c.4574C= c.12397C= (p.Leu4133=) c.2450C= c.12349C= (p.Leu4117=) n.3592C= c.12451C= (p.Leu4151=) c.12448C= (p.Leu4150=) c.12427C= (p.Leu4143=) c.12421C= (p.Leu4141=) c.12415C= (p.Leu4139=) c.12391C= (p.Leu4131=) c.12214C= (p.Leu4072=) c.12358C= (p.Leu4120=) c.12430C= (p.Leu4144=) | |
1 | g.237784109C>G | CA345413131 | RYR2 | c.*3489C>G (n.*3489C>G) c.12385C>G (p.Leu4129Val) c.12418C>G (p.Leu4140Val) c.4574C>G c.12397C>G (p.Leu4133Val) c.2450C>G c.12349C>G (p.Leu4117Val) n.3592C>G c.12451C>G (p.Leu4151Val) c.12448C>G (p.Leu4150Val) c.12427C>G (p.Leu4143Val) c.12421C>G (p.Leu4141Val) c.12415C>G (p.Leu4139Val) c.12391C>G (p.Leu4131Val) c.12214C>G (p.Leu4072Val) c.12358C>G (p.Leu4120Val) c.12430C>G (p.Leu4144Val) | |
1 | g.237784109C>T | CA424032125 | RYR2 | c.*3489C>T (n.*3489C>T) c.12385C>T (p.Leu4129=) c.12418C>T (p.Leu4140=) c.4574C>T c.12397C>T (p.Leu4133=) c.2450C>T c.12349C>T (p.Leu4117=) n.3592C>T c.12451C>T (p.Leu4151=) c.12448C>T (p.Leu4150=) c.12427C>T (p.Leu4143=) c.12421C>T (p.Leu4141=) c.12415C>T (p.Leu4139=) c.12391C>T (p.Leu4131=) c.12214C>T (p.Leu4072=) c.12358C>T (p.Leu4120=) c.12430C>T (p.Leu4144=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.237784110T>A | CA345413132 | RYR2 | c.*3490T>A (n.*3490T>A) c.12386T>A (p.Leu4129Gln) c.12419T>A (p.Leu4140Gln) c.4575T>A c.12398T>A (p.Leu4133Gln) c.2451T>A c.12350T>A (p.Leu4117Gln) n.3593T>A c.12452T>A (p.Leu4151Gln) c.12449T>A (p.Leu4150Gln) c.12428T>A (p.Leu4143Gln) c.12422T>A (p.Leu4141Gln) c.12416T>A (p.Leu4139Gln) c.12392T>A (p.Leu4131Gln) c.12215T>A (p.Leu4072Gln) c.12359T>A (p.Leu4120Gln) c.12431T>A (p.Leu4144Gln) | gnomAD v4 |
1 | g.237784110T>C | CA345413134 | RYR2 | c.*3490T>C (n.*3490T>C) c.12386T>C (p.Leu4129Pro) c.12419T>C (p.Leu4140Pro) c.4575T>C c.12398T>C (p.Leu4133Pro) c.2451T>C c.12350T>C (p.Leu4117Pro) n.3593T>C c.12452T>C (p.Leu4151Pro) c.12449T>C (p.Leu4150Pro) c.12428T>C (p.Leu4143Pro) c.12422T>C (p.Leu4141Pro) c.12416T>C (p.Leu4139Pro) c.12392T>C (p.Leu4131Pro) c.12215T>C (p.Leu4072Pro) c.12359T>C (p.Leu4120Pro) c.12431T>C (p.Leu4144Pro) | |
1 | g.237784110T>G | CA345413133 | RYR2 | c.*3490T>G (n.*3490T>G) c.12386T>G (p.Leu4129Arg) c.12419T>G (p.Leu4140Arg) c.4575T>G c.12398T>G (p.Leu4133Arg) c.2451T>G c.12350T>G (p.Leu4117Arg) n.3593T>G c.12452T>G (p.Leu4151Arg) c.12449T>G (p.Leu4150Arg) c.12428T>G (p.Leu4143Arg) c.12422T>G (p.Leu4141Arg) c.12416T>G (p.Leu4139Arg) c.12392T>G (p.Leu4131Arg) c.12215T>G (p.Leu4072Arg) c.12359T>G (p.Leu4120Arg) c.12431T>G (p.Leu4144Arg) | |
1 | g.237784111G>A | CA424032129 | RYR2 | c.*3491G>A (n.*3491G>A) c.12387G>A (p.Leu4129=) c.12420G>A (p.Leu4140=) c.4576G>A c.12399G>A (p.Leu4133=) c.2452G>A c.12351G>A (p.Leu4117=) n.3594G>A c.12453G>A (p.Leu4151=) c.12450G>A (p.Leu4150=) c.12429G>A (p.Leu4143=) c.12423G>A (p.Leu4141=) c.12417G>A (p.Leu4139=) c.12393G>A (p.Leu4131=) c.12216G>A (p.Leu4072=) c.12360G>A (p.Leu4120=) c.12432G>A (p.Leu4144=) | |
1 | g.237784111G>C | CA424032131 | RYR2 | c.*3491G>C (n.*3491G>C) c.12387G>C (p.Leu4129=) c.12420G>C (p.Leu4140=) c.4576G>C c.12399G>C (p.Leu4133=) c.2452G>C c.12351G>C (p.Leu4117=) n.3594G>C c.12453G>C (p.Leu4151=) c.12450G>C (p.Leu4150=) c.12429G>C (p.Leu4143=) c.12423G>C (p.Leu4141=) c.12417G>C (p.Leu4139=) c.12393G>C (p.Leu4131=) c.12216G>C (p.Leu4072=) c.12360G>C (p.Leu4120=) c.12432G>C (p.Leu4144=) | |
1 | g.237784111G>T | CA424032132 | RYR2 | c.*3491G>T (n.*3491G>T) c.12387G>T (p.Leu4129=) c.12420G>T (p.Leu4140=) c.4576G>T c.12399G>T (p.Leu4133=) c.2452G>T c.12351G>T (p.Leu4117=) n.3594G>T c.12453G>T (p.Leu4151=) c.12450G>T (p.Leu4150=) c.12429G>T (p.Leu4143=) c.12423G>T (p.Leu4141=) c.12417G>T (p.Leu4139=) c.12393G>T (p.Leu4131=) c.12216G>T (p.Leu4072=) c.12360G>T (p.Leu4120=) c.12432G>T (p.Leu4144=) | COSMIC |
1 | g.237784112G>A | CA345413135 | RYR2 | c.*3492G>A (n.*3492G>A) c.12388G>A (p.Gly4130Ser) c.12421G>A (p.Gly4141Ser) c.4577G>A c.12400G>A (p.Gly4134Ser) c.2453G>A c.12352G>A (p.Gly4118Ser) n.3595G>A c.12454G>A (p.Gly4152Ser) c.12451G>A (p.Gly4151Ser) c.12430G>A (p.Gly4144Ser) c.12424G>A (p.Gly4142Ser) c.12418G>A (p.Gly4140Ser) c.12394G>A (p.Gly4132Ser) c.12217G>A (p.Gly4073Ser) c.12361G>A (p.Gly4121Ser) c.12433G>A (p.Gly4145Ser) | |
1 | g.237784112G>C | CA345413136 | RYR2 | c.*3492G>C (n.*3492G>C) c.12388G>C (p.Gly4130Arg) c.12421G>C (p.Gly4141Arg) c.4577G>C c.12400G>C (p.Gly4134Arg) c.2453G>C c.12352G>C (p.Gly4118Arg) n.3595G>C c.12454G>C (p.Gly4152Arg) c.12451G>C (p.Gly4151Arg) c.12430G>C (p.Gly4144Arg) c.12424G>C (p.Gly4142Arg) c.12418G>C (p.Gly4140Arg) c.12394G>C (p.Gly4132Arg) c.12217G>C (p.Gly4073Arg) c.12361G>C (p.Gly4121Arg) c.12433G>C (p.Gly4145Arg) | |
1 | g.237784112G>T | CA345413137 | RYR2 | c.*3492G>T (n.*3492G>T) c.12388G>T (p.Gly4130Cys) c.12421G>T (p.Gly4141Cys) c.4577G>T c.12400G>T (p.Gly4134Cys) c.2453G>T c.12352G>T (p.Gly4118Cys) n.3595G>T c.12454G>T (p.Gly4152Cys) c.12451G>T (p.Gly4151Cys) c.12430G>T (p.Gly4144Cys) c.12424G>T (p.Gly4142Cys) c.12418G>T (p.Gly4140Cys) c.12394G>T (p.Gly4132Cys) c.12217G>T (p.Gly4073Cys) c.12361G>T (p.Gly4121Cys) c.12433G>T (p.Gly4145Cys) | COSMIC COSMIC |