| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580340G>A | CA061356 | RYR1 | c.14512-30G>A (p.=) c.14497-30G>A (p.=) c.14494-30G>A (p.=) c.14479-30G>A (p.=) c.14509-30G>A (p.=) c.14425-30G>A (p.=) n.14512-30G>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.38580342A>G | CA882064629 | RYR1 | c.14512-28A>G (p.=) c.14497-28A>G (p.=) c.14494-28A>G (p.=) c.14479-28A>G (p.=) c.14509-28A>G (p.=) c.14425-28A>G (p.=) n.14512-28A>G (p.=) | |
| 19 | g.38580343G>A | CA081247 | RYR1 | c.14512-27G>A (p.=) c.14497-27G>A (p.=) c.14494-27G>A (p.=) c.14479-27G>A (p.=) c.14509-27G>A (p.=) c.14425-27G>A (p.=) n.14512-27G>A (p.=) | |
| 19 | g.38580348C>A | CA308121895 | RYR1 | c.14512-22C>A (p.=) c.14497-22C>A (p.=) c.14494-22C>A (p.=) c.14479-22C>A (p.=) c.14509-22C>A (p.=) c.14425-22C>A (p.=) n.14512-22C>A (p.=) | dbSNP gnomAD |
| 19 | g.38580349C>T | CA633066913 | RYR1 | c.14512-21C>T (p.=) c.14497-21C>T (p.=) c.14494-21C>T (p.=) c.14479-21C>T (p.=) c.14509-21C>T (p.=) c.14425-21C>T (p.=) n.14512-21C>T (p.=) | gnomAD |
| 19 | g.38580355C>G | CA882064631 | RYR1 | c.14512-15C>G (p.=) c.14497-15C>G (p.=) c.14494-15C>G (p.=) c.14479-15C>G (p.=) c.14509-15C>G (p.=) c.14425-15C>G (p.=) n.14512-15C>G (p.=) | |
| 19 | g.38580355C>T | CA633066914 | RYR1 | c.14512-15C>T (p.=) c.14497-15C>T (p.=) c.14494-15C>T (p.=) c.14479-15C>T (p.=) c.14509-15C>T (p.=) c.14425-15C>T (p.=) n.14512-15C>T (p.=) | gnomAD |
| 19 | g.38580359C>T | CA882064632 | RYR1 | c.14512-11C>T (p.=) c.14497-11C>T (p.=) c.14494-11C>T (p.=) c.14479-11C>T (p.=) c.14509-11C>T (p.=) c.14425-11C>T (p.=) n.14512-11C>T (p.=) | |
| 19 | g.38580360C>G | CA882064635 | RYR1 | c.14512-10C>G (p.=) c.14497-10C>G (p.=) c.14494-10C>G (p.=) c.14479-10C>G (p.=) c.14509-10C>G (p.=) c.14425-10C>G (p.=) n.14512-10C>G (p.=) | |
| 19 | g.38580360C>T | CA061353 | RYR1 | c.14512-10C>T (p.=) c.14497-10C>T (p.=) c.14494-10C>T (p.=) c.14479-10C>T (p.=) c.14509-10C>T (p.=) c.14425-10C>T (p.=) n.14512-10C>T (p.=) | dbSNP ExAC gnomAD |
| 19 | g.38580362G>A | CA061372 | RYR1 | c.14512-8G>A (p.=) c.14497-8G>A (p.=) c.14494-8G>A (p.=) c.14479-8G>A (p.=) c.14509-8G>A (p.=) c.14425-8G>A (p.=) n.14512-8G>A (p.=) | dbSNP ExAC gnomAD |
| 19 | g.38580363C>T | CA081246 | RYR1 | c.14512-7C>T (p.=) c.14497-7C>T (p.=) c.14494-7C>T (p.=) c.14479-7C>T (p.=) c.14509-7C>T (p.=) c.14425-7C>T (p.=) n.14512-7C>T (p.=) | |
| 19 | g.38580365C>T | CA308121905 | RYR1 | c.14512-5C>T (p.=) c.14497-5C>T (p.=) c.14494-5C>T (p.=) c.14479-5C>T (p.=) c.14509-5C>T (p.=) c.14425-5C>T (p.=) n.14512-5C>T (p.=) | dbSNP gnomAD |
| 19 | g.38580368A>C | CA405687532 | RYR1 | c.14512-2A>C (p.=) c.14497-2A>C (p.=) c.14494-2A>C (p.=) c.14479-2A>C (p.=) c.14509-2A>C (p.=) c.14425-2A>C (p.=) n.14512-2A>C (p.=) | |
| 19 | g.38580368A>G | CA405687536 | RYR1 | c.14512-2A>G (p.=) c.14497-2A>G (p.=) c.14494-2A>G (p.=) c.14479-2A>G (p.=) c.14509-2A>G (p.=) c.14425-2A>G (p.=) n.14512-2A>G (p.=) | |
| 19 | g.38580368A>T | CA405687539 | RYR1 | c.14512-2A>T (p.=) c.14497-2A>T (p.=) c.14494-2A>T (p.=) c.14479-2A>T (p.=) c.14509-2A>T (p.=) c.14425-2A>T (p.=) n.14512-2A>T (p.=) | |
| 19 | g.38580369G>A | CA113770 | RYR1 | c.14512-1G>A (p.=) c.14497-1G>A (p.=) c.14494-1G>A (p.=) c.14479-1G>A (p.=) c.14509-1G>A (p.=) c.14425-1G>A (p.=) n.14512-1G>A (p.=) | ClinVar |
| 19 | g.38580369G>C | CA405687542 | RYR1 | c.14512-1G>C (p.=) c.14497-1G>C (p.=) c.14494-1G>C (p.=) c.14479-1G>C (p.=) c.14509-1G>C (p.=) c.14425-1G>C (p.=) n.14512-1G>C (p.=) | |
| 19 | g.38580369G>T | CA405687544 | RYR1 | c.14512-1G>T (p.=) c.14497-1G>T (p.=) c.14494-1G>T (p.=) c.14479-1G>T (p.=) c.14509-1G>T (p.=) c.14425-1G>T (p.=) n.14512-1G>T (p.=) | |
| 19 | g.38580370C>A | CA405687546 | RYR1 | c.14512C>A (p.Leu4838Met) c.14497C>A (p.Leu4833Met) c.14494C>A (p.Leu4832Met) c.14479C>A (p.Leu4827Met) c.14509C>A (p.Leu4837Met) c.14425C>A (p.Leu4809Met) n.14512C>A (p.Leu4838Met) | |
| 19 | g.38580370C>G | CA024163 | RYR1 | c.14512C>G (p.Leu4838Val) c.14497C>G (p.Leu4833Val) c.14494C>G (p.Leu4832Val) c.14479C>G (p.Leu4827Val) c.14509C>G (p.Leu4837Val) c.14425C>G (p.Leu4809Val) n.14512C>G (p.Leu4838Val) | ClinVar dbSNP |
| 19 | g.38580370C>T | CA507356005 | RYR1 | c.14512C>T (p.Leu4838=) c.14497C>T (p.Leu4833=) c.14494C>T (p.Leu4832=) c.14479C>T (p.Leu4827=) c.14509C>T (p.Leu4837=) c.14425C>T (p.Leu4809=) n.14512C>T (p.Leu4838=) | |
| 19 | g.38580371T>A | CA405687554 | RYR1 | c.14513T>A (p.Leu4838Gln) c.14498T>A (p.Leu4833Gln) c.14495T>A (p.Leu4832Gln) c.14480T>A (p.Leu4827Gln) c.14510T>A (p.Leu4837Gln) c.14426T>A (p.Leu4809Gln) n.14513T>A (p.Leu4838Gln) | |
| 19 | g.38580371T>C | CA405687550 | RYR1 | c.14513T>C (p.Leu4838Pro) c.14498T>C (p.Leu4833Pro) c.14495T>C (p.Leu4832Pro) c.14480T>C (p.Leu4827Pro) c.14510T>C (p.Leu4837Pro) c.14426T>C (p.Leu4809Pro) n.14513T>C (p.Leu4838Pro) | |
| 19 | g.38580371T>G | CA405687552 | RYR1 | c.14513T>G (p.Leu4838Arg) c.14498T>G (p.Leu4833Arg) c.14495T>G (p.Leu4832Arg) c.14480T>G (p.Leu4827Arg) c.14510T>G (p.Leu4837Arg) c.14426T>G (p.Leu4809Arg) n.14513T>G (p.Leu4838Arg) | |
| 19 | g.38580372G>A | CA507356007 | RYR1 | c.14514G>A (p.Leu4838=) c.14499G>A (p.Leu4833=) c.14496G>A (p.Leu4832=) c.14481G>A (p.Leu4827=) c.14511G>A (p.Leu4837=) c.14427G>A (p.Leu4809=) n.14514G>A (p.Leu4838=) | |
| 19 | g.38580372G>C | CA507356008 | RYR1 | c.14514G>C (p.Leu4838=) c.14499G>C (p.Leu4833=) c.14496G>C (p.Leu4832=) c.14481G>C (p.Leu4827=) c.14511G>C (p.Leu4837=) c.14427G>C (p.Leu4809=) n.14514G>C (p.Leu4838=) | |
| 19 | g.38580372G>T | CA507356009 | RYR1 | c.14514G>T (p.Leu4838=) c.14499G>T (p.Leu4833=) c.14496G>T (p.Leu4832=) c.14481G>T (p.Leu4827=) c.14511G>T (p.Leu4837=) c.14427G>T (p.Leu4809=) n.14514G>T (p.Leu4838=) | |
| 19 | g.38580373G>A | CA405687555 | RYR1 | c.14515G>A (p.Val4839Met) c.14500G>A (p.Val4834Met) c.14497G>A (p.Val4833Met) c.14482G>A (p.Val4828Met) c.14512G>A (p.Val4838Met) c.14428G>A (p.Val4810Met) n.14515G>A (p.Val4839Met) | |
| 19 | g.38580373G>C | CA405687557 | RYR1 | c.14515G>C (p.Val4839Leu) c.14500G>C (p.Val4834Leu) c.14497G>C (p.Val4833Leu) c.14482G>C (p.Val4828Leu) c.14512G>C (p.Val4838Leu) c.14428G>C (p.Val4810Leu) n.14515G>C (p.Val4839Leu) | |
| 19 | g.38580373G>T | CA405687559 | RYR1 | c.14515G>T (p.Val4839Leu) c.14500G>T (p.Val4834Leu) c.14497G>T (p.Val4833Leu) c.14482G>T (p.Val4828Leu) c.14512G>T (p.Val4838Leu) c.14428G>T (p.Val4810Leu) n.14515G>T (p.Val4839Leu) | |
| 19 | g.38580374T>A | CA405687563 | RYR1 | c.14516T>A (p.Val4839Glu) c.14501T>A (p.Val4834Glu) c.14498T>A (p.Val4833Glu) c.14483T>A (p.Val4828Glu) c.14513T>A (p.Val4838Glu) c.14429T>A (p.Val4810Glu) n.14516T>A (p.Val4839Glu) | |
| 19 | g.38580374T>C | CA405687565 | RYR1 | c.14516T>C (p.Val4839Ala) c.14501T>C (p.Val4834Ala) c.14498T>C (p.Val4833Ala) c.14483T>C (p.Val4828Ala) c.14513T>C (p.Val4838Ala) c.14429T>C (p.Val4810Ala) n.14516T>C (p.Val4839Ala) | |
| 19 | g.38580374T>G | CA405687566 | RYR1 | c.14516T>G (p.Val4839Gly) c.14501T>G (p.Val4834Gly) c.14498T>G (p.Val4833Gly) c.14483T>G (p.Val4828Gly) c.14513T>G (p.Val4838Gly) c.14429T>G (p.Val4810Gly) n.14516T>G (p.Val4839Gly) | |
| 19 | g.38580375G>A | CA081242 | RYR1 | c.14517G>A (p.Val4839=) c.14502G>A (p.Val4834=) c.14499G>A (p.Val4833=) c.14484G>A (p.Val4828=) c.14514G>A (p.Val4838=) c.14430G>A (p.Val4810=) n.14517G>A (p.Val4839=) | |
| 19 | g.38580375G>C | CA507356014 | RYR1 | c.14517G>C (p.Val4839=) c.14502G>C (p.Val4834=) c.14499G>C (p.Val4833=) c.14484G>C (p.Val4828=) c.14514G>C (p.Val4838=) c.14430G>C (p.Val4810=) n.14517G>C (p.Val4839=) | |
| 19 | g.38580375G>T | CA507356016 | RYR1 | c.14517G>T (p.Val4839=) c.14502G>T (p.Val4834=) c.14499G>T (p.Val4833=) c.14484G>T (p.Val4828=) c.14514G>T (p.Val4838=) c.14430G>T (p.Val4810=) n.14517G>T (p.Val4839=) | |
| 19 | g.38580376A>C | CA405687567 | RYR1 | c.14518A>C (p.Met4840Leu) c.14503A>C (p.Met4835Leu) c.14500A>C (p.Met4834Leu) c.14485A>C (p.Met4829Leu) c.14515A>C (p.Met4839Leu) c.14431A>C (p.Met4811Leu) n.14518A>C (p.Met4840Leu) | |
| 19 | g.38580376A>G | CA405687568 | RYR1 | c.14518A>G (p.Met4840Val) c.14503A>G (p.Met4835Val) c.14500A>G (p.Met4834Val) c.14485A>G (p.Met4829Val) c.14515A>G (p.Met4839Val) c.14431A>G (p.Met4811Val) n.14518A>G (p.Met4840Val) | |
| 19 | g.38580376A>T | CA308121922 | RYR1 | c.14518A>T (p.Met4840Leu) c.14503A>T (p.Met4835Leu) c.14500A>T (p.Met4834Leu) c.14485A>T (p.Met4829Leu) c.14515A>T (p.Met4839Leu) c.14431A>T (p.Met4811Leu) n.14518A>T (p.Met4840Leu) | ClinVar dbSNP |
| 19 | g.38580377T>A | CA405687571 | RYR1 | c.14519T>A (p.Met4840Lys) c.14504T>A (p.Met4835Lys) c.14501T>A (p.Met4834Lys) c.14486T>A (p.Met4829Lys) c.14516T>A (p.Met4839Lys) c.14432T>A (p.Met4811Lys) n.14519T>A (p.Met4840Lys) | |
| 19 | g.38580377T>C | CA405687572 | RYR1 | c.14519T>C (p.Met4840Thr) c.14504T>C (p.Met4835Thr) c.14501T>C (p.Met4834Thr) c.14486T>C (p.Met4829Thr) c.14516T>C (p.Met4839Thr) c.14432T>C (p.Met4811Thr) n.14519T>C (p.Met4840Thr) | |
| 19 | g.38580377T>G | CA405687574 | RYR1 | c.14519T>G (p.Met4840Arg) c.14504T>G (p.Met4835Arg) c.14501T>G (p.Met4834Arg) c.14486T>G (p.Met4829Arg) c.14516T>G (p.Met4839Arg) c.14432T>G (p.Met4811Arg) n.14519T>G (p.Met4840Arg) | ClinVar |
| 19 | g.38580378G>A | CA405687579 | RYR1 | c.14520G>A (p.Met4840Ile) c.14505G>A (p.Met4835Ile) c.14502G>A (p.Met4834Ile) c.14487G>A (p.Met4829Ile) c.14517G>A (p.Met4839Ile) c.14433G>A (p.Met4811Ile) n.14520G>A (p.Met4840Ile) | |
| 19 | g.38580378G>C | CA405687578 | RYR1 | c.14520G>C (p.Met4840Ile) c.14505G>C (p.Met4835Ile) c.14502G>C (p.Met4834Ile) c.14487G>C (p.Met4829Ile) c.14517G>C (p.Met4839Ile) c.14433G>C (p.Met4811Ile) n.14520G>C (p.Met4840Ile) | |
| 19 | g.38580378G>T | CA405687576 | RYR1 | c.14520G>T (p.Met4840Ile) c.14505G>T (p.Met4835Ile) c.14502G>T (p.Met4834Ile) c.14487G>T (p.Met4829Ile) c.14517G>T (p.Met4839Ile) c.14433G>T (p.Met4811Ile) n.14520G>T (p.Met4840Ile) | |
| 19 | g.38580379A>C | CA405687580 | RYR1 | c.14521A>C (p.Thr4841Pro) c.14506A>C (p.Thr4836Pro) c.14503A>C (p.Thr4835Pro) c.14488A>C (p.Thr4830Pro) c.14518A>C (p.Thr4840Pro) c.14434A>C (p.Thr4812Pro) n.14521A>C (p.Thr4841Pro) | |
| 19 | g.38580379A>G | CA405687581 | RYR1 | c.14521A>G (p.Thr4841Ala) c.14506A>G (p.Thr4836Ala) c.14503A>G (p.Thr4835Ala) c.14488A>G (p.Thr4830Ala) c.14518A>G (p.Thr4840Ala) c.14434A>G (p.Thr4812Ala) n.14521A>G (p.Thr4841Ala) | |
| 19 | g.38580379A>T | CA405687583 | RYR1 | c.14521A>T (p.Thr4841Ser) c.14506A>T (p.Thr4836Ser) c.14503A>T (p.Thr4835Ser) c.14488A>T (p.Thr4830Ser) c.14518A>T (p.Thr4840Ser) c.14434A>T (p.Thr4812Ser) n.14521A>T (p.Thr4841Ser) | |
| 19 | g.38580380C>A | CA405687585 | RYR1 | c.14522C>A (p.Thr4841Asn) c.14507C>A (p.Thr4836Asn) c.14504C>A (p.Thr4835Asn) c.14489C>A (p.Thr4830Asn) c.14519C>A (p.Thr4840Asn) c.14435C>A (p.Thr4812Asn) n.14522C>A (p.Thr4841Asn) |