Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38584998_38585012dup | CA2580097258 | RYR1 | c.1638_1652dup c.3035_3049dup c.3007_3021dup n.95_109dup c.14702_14716dup (p.Pro4905_Ala4906insGluIleGluAspPro) c.14687_14701dup (p.Pro4900_Ala4901insGluIleGluAspPro) c.14684_14698dup (p.Pro4899_Ala4900insGluIleGluAspPro) c.14669_14683dup (p.Pro4894_Ala4895insGluIleGluAspPro) c.14699_14713dup (p.Pro4904_Ala4905insGluIleGluAspPro) c.14615_14629dup (p.Pro4876_Ala4877insGluIleGluAspPro) | ClinVar |
19 | g.38585009C>A | CA16043558 | RYR1 | c.1649C>A c.3046C>A c.3018C>A n.106C>A c.14713C>A (p.Pro4905Thr) c.14698C>A (p.Pro4900Thr) c.14695C>A (p.Pro4899Thr) c.14680C>A (p.Pro4894Thr) c.14710C>A (p.Pro4904Thr) c.14626C>A (p.Pro4876Thr) | ClinVar dbSNP |
19 | g.38585009C= | CA2335094960 | RYR1 | c.1649C= c.3046C= c.3018C= n.106C= c.14713C= (p.Pro4905=) c.14698C= (p.Pro4900=) c.14695C= (p.Pro4899=) c.14680C= (p.Pro4894=) c.14710C= (p.Pro4904=) c.14626C= (p.Pro4876=) | |
19 | g.38585009C>G | CA405690474 | RYR1 | c.1649C>G c.3046C>G c.3018C>G n.106C>G c.14713C>G (p.Pro4905Ala) c.14698C>G (p.Pro4900Ala) c.14695C>G (p.Pro4899Ala) c.14680C>G (p.Pro4894Ala) c.14710C>G (p.Pro4904Ala) c.14626C>G (p.Pro4876Ala) | |
19 | g.38585009C>T | CA405690476 | RYR1 | c.1649C>T c.3046C>T c.3018C>T n.106C>T c.14713C>T (p.Pro4905Ser) c.14698C>T (p.Pro4900Ser) c.14695C>T (p.Pro4899Ser) c.14680C>T (p.Pro4894Ser) c.14710C>T (p.Pro4904Ser) c.14626C>T (p.Pro4876Ser) | ClinVar |
19 | g.38585010C>A | CA405690479 | RYR1 | c.1650C>A c.3047C>A c.3019C>A n.107C>A c.14714C>A (p.Pro4905His) c.14699C>A (p.Pro4900His) c.14696C>A (p.Pro4899His) c.14681C>A (p.Pro4894His) c.14711C>A (p.Pro4904His) c.14627C>A (p.Pro4876His) | gnomAD v4 |
19 | g.38585010C>G | CA405690481 | RYR1 | c.1650C>G c.3047C>G c.3019C>G n.107C>G c.14714C>G (p.Pro4905Arg) c.14699C>G (p.Pro4900Arg) c.14696C>G (p.Pro4899Arg) c.14681C>G (p.Pro4894Arg) c.14711C>G (p.Pro4904Arg) c.14627C>G (p.Pro4876Arg) | |
19 | g.38585010C>T | CA405690486 | RYR1 | c.1650C>T c.3047C>T c.3019C>T n.107C>T c.14714C>T (p.Pro4905Leu) c.14699C>T (p.Pro4900Leu) c.14696C>T (p.Pro4899Leu) c.14681C>T (p.Pro4894Leu) c.14711C>T (p.Pro4904Leu) c.14627C>T (p.Pro4876Leu) | |
19 | g.38585011C>A | CA507246368 | RYR1 | c.1651C>A c.3048C>A c.3020C>A n.108C>A c.14715C>A (p.Pro4905=) c.14700C>A (p.Pro4900=) c.14697C>A (p.Pro4899=) c.14682C>A (p.Pro4894=) c.14712C>A (p.Pro4904=) c.14628C>A (p.Pro4876=) | |
19 | g.38585011C= | CA2335094961 | RYR1 | c.1651C= c.3048C= c.3020C= n.108C= c.14715C= (p.Pro4905=) c.14700C= (p.Pro4900=) c.14697C= (p.Pro4899=) c.14682C= (p.Pro4894=) c.14712C= (p.Pro4904=) c.14628C= (p.Pro4876=) | |
19 | g.38585011C>G | CA507246369 | RYR1 | c.1651C>G c.3048C>G c.3020C>G n.108C>G c.14715C>G (p.Pro4905=) c.14700C>G (p.Pro4900=) c.14697C>G (p.Pro4899=) c.14682C>G (p.Pro4894=) c.14712C>G (p.Pro4904=) c.14628C>G (p.Pro4876=) | |
19 | g.38585011C>T | CA507246370 | RYR1 | c.1651C>T c.3048C>T c.3020C>T n.108C>T c.14715C>T (p.Pro4905=) c.14700C>T (p.Pro4900=) c.14697C>T (p.Pro4899=) c.14682C>T (p.Pro4894=) c.14712C>T (p.Pro4904=) c.14628C>T (p.Pro4876=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585012G>A | CA405690492 | RYR1 | c.1652G>A c.3049G>A c.3021G>A n.109G>A c.14716G>A (p.Ala4906Thr) c.14701G>A (p.Ala4901Thr) c.14698G>A (p.Ala4900Thr) c.14683G>A (p.Ala4895Thr) c.14713G>A (p.Ala4905Thr) c.14629G>A (p.Ala4877Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585012G>C | CA405690495 | RYR1 | c.1652G>C c.3049G>C c.3021G>C n.109G>C c.14716G>C (p.Ala4906Pro) c.14701G>C (p.Ala4901Pro) c.14698G>C (p.Ala4900Pro) c.14683G>C (p.Ala4895Pro) c.14713G>C (p.Ala4905Pro) c.14629G>C (p.Ala4877Pro) | |
19 | g.38585012G= | CA2335094962 | RYR1 | c.1652G= c.3049G= c.3021G= n.109G= c.14716G= (p.Ala4906=) c.14701G= (p.Ala4901=) c.14698G= (p.Ala4900=) c.14683G= (p.Ala4895=) c.14713G= (p.Ala4905=) c.14629G= (p.Ala4877=) | |
19 | g.38585012G>T | CA405690499 | RYR1 | c.1652G>T c.3049G>T c.3021G>T n.109G>T c.14716G>T (p.Ala4906Ser) c.14701G>T (p.Ala4901Ser) c.14698G>T (p.Ala4900Ser) c.14683G>T (p.Ala4895Ser) c.14713G>T (p.Ala4905Ser) c.14629G>T (p.Ala4877Ser) | dbSNP |
19 | g.38585012dup | CA2838346201 | RYR1 | c.1652dup c.3049dup c.3021dup n.109dup c.14716dup (p.Ala4906GlyfsTer3) c.14701dup (p.Ala4901GlyfsTer3) c.14698dup (p.Ala4900GlyfsTer3) c.14683dup (p.Ala4895GlyfsTer3) c.14713dup (p.Ala4905GlyfsTer3) c.14629dup (p.Ala4877GlyfsTer3) | |
19 | g.38585013C>A | CA405690510 | RYR1 | c.1653C>A c.3050C>A c.3022C>A n.110C>A c.14717C>A (p.Ala4906Glu) c.14702C>A (p.Ala4901Glu) c.14699C>A (p.Ala4900Glu) c.14684C>A (p.Ala4895Glu) c.14714C>A (p.Ala4905Glu) c.14630C>A (p.Ala4877Glu) | |
19 | g.38585013C= | CA2335094963 | RYR1 | c.1653C= c.3050C= c.3022C= n.110C= c.14717C= (p.Ala4906=) c.14702C= (p.Ala4901=) c.14699C= (p.Ala4900=) c.14684C= (p.Ala4895=) c.14714C= (p.Ala4905=) c.14630C= (p.Ala4877=) | |
19 | g.38585013C>G | CA024239 | RYR1 | c.1653C>G c.3050C>G c.3022C>G n.110C>G c.14717C>G (p.Ala4906Gly) c.14702C>G (p.Ala4901Gly) c.14699C>G (p.Ala4900Gly) c.14684C>G (p.Ala4895Gly) c.14714C>G (p.Ala4905Gly) c.14630C>G (p.Ala4877Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585013C>T | CA024241 | RYR1 | c.1653C>T c.3050C>T c.3022C>T n.110C>T c.14717C>T (p.Ala4906Val) c.14702C>T (p.Ala4901Val) c.14699C>T (p.Ala4900Val) c.14684C>T (p.Ala4895Val) c.14714C>T (p.Ala4905Val) c.14630C>T (p.Ala4877Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585014G>A | CA061546 | RYR1 | c.1654G>A c.3051G>A c.3023G>A n.111G>A c.14718G>A (p.Ala4906=) c.14703G>A (p.Ala4901=) c.14700G>A (p.Ala4900=) c.14685G>A (p.Ala4895=) c.14715G>A (p.Ala4905=) c.14631G>A (p.Ala4877=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585014G>C | CA507246374 | RYR1 | c.1654G>C c.3051G>C c.3023G>C n.111G>C c.14718G>C (p.Ala4906=) c.14703G>C (p.Ala4901=) c.14700G>C (p.Ala4900=) c.14685G>C (p.Ala4895=) c.14715G>C (p.Ala4905=) c.14631G>C (p.Ala4877=) | |
19 | g.38585014G= | CA2335094964 | RYR1 | c.1654G= c.3051G= c.3023G= n.111G= c.14718G= (p.Ala4906=) c.14703G= (p.Ala4901=) c.14700G= (p.Ala4900=) c.14685G= (p.Ala4895=) c.14715G= (p.Ala4905=) c.14631G= (p.Ala4877=) | |
19 | g.38585014G>T | CA507246375 | RYR1 | c.1654G>T c.3051G>T c.3023G>T n.111G>T c.14718G>T (p.Ala4906=) c.14703G>T (p.Ala4901=) c.14700G>T (p.Ala4900=) c.14685G>T (p.Ala4895=) c.14715G>T (p.Ala4905=) c.14631G>T (p.Ala4877=) | |
19 | g.38585015G>A | CA405690545 | RYR1 | c.1655G>A c.3052G>A c.3024G>A n.112G>A c.14719G>A (p.Gly4907Ser) c.14704G>A (p.Gly4902Ser) c.14701G>A (p.Gly4901Ser) c.14686G>A (p.Gly4896Ser) c.14716G>A (p.Gly4906Ser) c.14632G>A (p.Gly4878Ser) | |
19 | g.38585015G>C | CA405690535 | RYR1 | c.1655G>C c.3052G>C c.3024G>C n.112G>C c.14719G>C (p.Gly4907Arg) c.14704G>C (p.Gly4902Arg) c.14701G>C (p.Gly4901Arg) c.14686G>C (p.Gly4896Arg) c.14716G>C (p.Gly4906Arg) c.14632G>C (p.Gly4878Arg) | |
19 | g.38585015G>T | CA405690541 | RYR1 | c.1655G>T c.3052G>T c.3024G>T n.112G>T c.14719G>T (p.Gly4907Cys) c.14704G>T (p.Gly4902Cys) c.14701G>T (p.Gly4901Cys) c.14686G>T (p.Gly4896Cys) c.14716G>T (p.Gly4906Cys) c.14632G>T (p.Gly4878Cys) | |
19 | g.38585016G>A | CA405690552 | RYR1 | c.1656G>A c.3053G>A c.3025G>A n.113G>A c.14720G>A (p.Gly4907Asp) c.14705G>A (p.Gly4902Asp) c.14702G>A (p.Gly4901Asp) c.14687G>A (p.Gly4896Asp) c.14717G>A (p.Gly4906Asp) c.14633G>A (p.Gly4878Asp) | |
19 | g.38585016G>C | CA405690554 | RYR1 | c.1656G>C c.3053G>C c.3025G>C n.113G>C c.14720G>C (p.Gly4907Ala) c.14705G>C (p.Gly4902Ala) c.14702G>C (p.Gly4901Ala) c.14687G>C (p.Gly4896Ala) c.14717G>C (p.Gly4906Ala) c.14633G>C (p.Gly4878Ala) | |
19 | g.38585016G>T | CA405690555 | RYR1 | c.1656G>T c.3053G>T c.3025G>T n.113G>T c.14720G>T (p.Gly4907Val) c.14705G>T (p.Gly4902Val) c.14702G>T (p.Gly4901Val) c.14687G>T (p.Gly4896Val) c.14717G>T (p.Gly4906Val) c.14633G>T (p.Gly4878Val) | |
19 | g.38585017T>A | CA507246377 | RYR1 | c.1657T>A c.3054T>A c.3026T>A n.114T>A c.14721T>A (p.Gly4907=) c.14706T>A (p.Gly4902=) c.14703T>A (p.Gly4901=) c.14688T>A (p.Gly4896=) c.14718T>A (p.Gly4906=) c.14634T>A (p.Gly4878=) | |
19 | g.38585017T>C | CA507246379 | RYR1 | c.1657T>C c.3054T>C c.3026T>C n.114T>C c.14721T>C (p.Gly4907=) c.14706T>C (p.Gly4902=) c.14703T>C (p.Gly4901=) c.14688T>C (p.Gly4896=) c.14718T>C (p.Gly4906=) c.14634T>C (p.Gly4878=) | |
19 | g.38585017T>G | CA507246380 | RYR1 | c.1657T>G c.3054T>G c.3026T>G n.114T>G c.14721T>G (p.Gly4907=) c.14706T>G (p.Gly4902=) c.14703T>G (p.Gly4901=) c.14688T>G (p.Gly4896=) c.14718T>G (p.Gly4906=) c.14634T>G (p.Gly4878=) | |
19 | g.38585018G>A | CA405690556 | RYR1 | c.1658G>A c.3055G>A c.3027G>A n.115G>A c.14722G>A (p.Asp4908Asn) c.14707G>A (p.Asp4903Asn) c.14704G>A (p.Asp4902Asn) c.14689G>A (p.Asp4897Asn) c.14719G>A (p.Asp4907Asn) c.14635G>A (p.Asp4879Asn) | |
19 | g.38585018G>C | CA405690557 | RYR1 | c.1658G>C c.3055G>C c.3027G>C n.115G>C c.14722G>C (p.Asp4908His) c.14707G>C (p.Asp4903His) c.14704G>C (p.Asp4902His) c.14689G>C (p.Asp4897His) c.14719G>C (p.Asp4907His) c.14635G>C (p.Asp4879His) | |
19 | g.38585018G>T | CA405690558 | RYR1 | c.1658G>T c.3055G>T c.3027G>T n.115G>T c.14722G>T (p.Asp4908Tyr) c.14707G>T (p.Asp4903Tyr) c.14704G>T (p.Asp4902Tyr) c.14689G>T (p.Asp4897Tyr) c.14719G>T (p.Asp4907Tyr) c.14635G>T (p.Asp4879Tyr) | |
19 | g.38585019A= | CA2335094965 | RYR1 | c.1659A= c.3056A= c.3028A= n.116A= c.14723A= (p.Asp4908=) c.14708A= (p.Asp4903=) c.14705A= (p.Asp4902=) c.14690A= (p.Asp4897=) c.14720A= (p.Asp4907=) c.14636A= (p.Asp4879=) | |
19 | g.38585019A>C | CA405690559 | RYR1 | c.1659A>C c.3056A>C c.3028A>C n.116A>C c.14723A>C (p.Asp4908Ala) c.14708A>C (p.Asp4903Ala) c.14705A>C (p.Asp4902Ala) c.14690A>C (p.Asp4897Ala) c.14720A>C (p.Asp4907Ala) c.14636A>C (p.Asp4879Ala) | |
19 | g.38585019A>G | CA405690561 | RYR1 | c.1659A>G c.3056A>G c.3028A>G n.116A>G c.14723A>G (p.Asp4908Gly) c.14708A>G (p.Asp4903Gly) c.14705A>G (p.Asp4902Gly) c.14690A>G (p.Asp4897Gly) c.14720A>G (p.Asp4907Gly) c.14636A>G (p.Asp4879Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585019A>T | CA405690565 | RYR1 | c.1659A>T c.3056A>T c.3028A>T n.116A>T c.14723A>T (p.Asp4908Val) c.14708A>T (p.Asp4903Val) c.14705A>T (p.Asp4902Val) c.14690A>T (p.Asp4897Val) c.14720A>T (p.Asp4907Val) c.14636A>T (p.Asp4879Val) | |
19 | g.38585020C>A | CA405690567 | RYR1 | c.1660C>A c.3057C>A c.3029C>A n.117C>A c.14724C>A (p.Asp4908Glu) c.14709C>A (p.Asp4903Glu) c.14706C>A (p.Asp4902Glu) c.14691C>A (p.Asp4897Glu) c.14721C>A (p.Asp4907Glu) c.14637C>A (p.Asp4879Glu) | |
19 | g.38585020C= | CA2335094966 | RYR1 | c.1660C= c.3057C= c.3029C= n.117C= c.14724C= (p.Asp4908=) c.14709C= (p.Asp4903=) c.14706C= (p.Asp4902=) c.14691C= (p.Asp4897=) c.14721C= (p.Asp4907=) c.14637C= (p.Asp4879=) | |
19 | g.38585020C>G | CA405690568 | RYR1 | c.1660C>G c.3057C>G c.3029C>G n.117C>G c.14724C>G (p.Asp4908Glu) c.14709C>G (p.Asp4903Glu) c.14706C>G (p.Asp4902Glu) c.14691C>G (p.Asp4897Glu) c.14721C>G (p.Asp4907Glu) c.14637C>G (p.Asp4879Glu) | gnomAD v4 |
19 | g.38585020C>T | CA061552 | RYR1 | c.1660C>T c.3057C>T c.3029C>T n.117C>T c.14724C>T (p.Asp4908=) c.14709C>T (p.Asp4903=) c.14706C>T (p.Asp4902=) c.14691C>T (p.Asp4897=) c.14721C>T (p.Asp4907=) c.14637C>T (p.Asp4879=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585021G>A | CA061556 | RYR1 | c.1661G>A c.3058G>A c.3030G>A n.118G>A c.14725G>A (p.Glu4909Lys) c.14710G>A (p.Glu4904Lys) c.14707G>A (p.Glu4903Lys) c.14692G>A (p.Glu4898Lys) c.14722G>A (p.Glu4908Lys) c.14638G>A (p.Glu4880Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585021G>C | CA405690576 | RYR1 | c.1661G>C c.3058G>C c.3030G>C n.118G>C c.14725G>C (p.Glu4909Gln) c.14710G>C (p.Glu4904Gln) c.14707G>C (p.Glu4903Gln) c.14692G>C (p.Glu4898Gln) c.14722G>C (p.Glu4908Gln) c.14638G>C (p.Glu4880Gln) | |
19 | g.38585021G= | CA2335094967 | RYR1 | c.1661G= c.3058G= c.3030G= n.118G= c.14725G= (p.Glu4909=) c.14710G= (p.Glu4904=) c.14707G= (p.Glu4903=) c.14692G= (p.Glu4898=) c.14722G= (p.Glu4908=) c.14638G= (p.Glu4880=) | |
19 | g.38585021G>T | CA405690571 | RYR1 | c.1661G>T c.3058G>T c.3030G>T n.118G>T c.14725G>T (p.Glu4909Ter) c.14710G>T (p.Glu4904Ter) c.14707G>T (p.Glu4903Ter) c.14692G>T (p.Glu4898Ter) c.14722G>T (p.Glu4908Ter) c.14638G>T (p.Glu4880Ter) | |
19 | g.38585022A>C | CA405690586 | RYR1 | c.1662A>C c.3059A>C c.3031A>C n.119A>C c.14726A>C (p.Glu4909Ala) c.14711A>C (p.Glu4904Ala) c.14708A>C (p.Glu4903Ala) c.14693A>C (p.Glu4898Ala) c.14723A>C (p.Glu4908Ala) c.14639A>C (p.Glu4880Ala) | |
19 | g.38585022A>G | CA405690590 | RYR1 | c.1662A>G c.3059A>G c.3031A>G n.119A>G c.14726A>G (p.Glu4909Gly) c.14711A>G (p.Glu4904Gly) c.14708A>G (p.Glu4903Gly) c.14693A>G (p.Glu4898Gly) c.14723A>G (p.Glu4908Gly) c.14639A>G (p.Glu4880Gly) | |
19 | g.38585022A>T | CA405690587 | RYR1 | c.1662A>T c.3059A>T c.3031A>T n.119A>T c.14726A>T (p.Glu4909Val) c.14711A>T (p.Glu4904Val) c.14708A>T (p.Glu4903Val) c.14693A>T (p.Glu4898Val) c.14723A>T (p.Glu4908Val) c.14639A>T (p.Glu4880Val) | |
19 | g.38585023A>C | CA405690594 | RYR1 | c.1663A>C c.3060A>C c.3032A>C n.120A>C c.14727A>C (p.Glu4909Asp) c.14712A>C (p.Glu4904Asp) c.14709A>C (p.Glu4903Asp) c.14694A>C (p.Glu4898Asp) c.14724A>C (p.Glu4908Asp) c.14640A>C (p.Glu4880Asp) | |
19 | g.38585023A>G | CA507246382 | RYR1 | c.1663A>G c.3060A>G c.3032A>G n.120A>G c.14727A>G (p.Glu4909=) c.14712A>G (p.Glu4904=) c.14709A>G (p.Glu4903=) c.14694A>G (p.Glu4898=) c.14724A>G (p.Glu4908=) c.14640A>G (p.Glu4880=) | gnomAD v4 |
19 | g.38585023A>T | CA405690598 | RYR1 | c.1663A>T c.3060A>T c.3032A>T n.120A>T c.14727A>T (p.Glu4909Asp) c.14712A>T (p.Glu4904Asp) c.14709A>T (p.Glu4903Asp) c.14694A>T (p.Glu4898Asp) c.14724A>T (p.Glu4908Asp) c.14640A>T (p.Glu4880Asp) | |
19 | g.38585024T>A | CA081306 | RYR1 | c.1664T>A c.3061T>A c.3033T>A n.121T>A c.14728T>A (p.Tyr4910Asn) c.14713T>A (p.Tyr4905Asn) c.14710T>A (p.Tyr4904Asn) c.14695T>A (p.Tyr4899Asn) c.14725T>A (p.Tyr4909Asn) c.14641T>A (p.Tyr4881Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585024T>C | CA405690613 | RYR1 | c.1664T>C c.3061T>C c.3033T>C n.121T>C c.14728T>C (p.Tyr4910His) c.14713T>C (p.Tyr4905His) c.14710T>C (p.Tyr4904His) c.14695T>C (p.Tyr4899His) c.14725T>C (p.Tyr4909His) c.14641T>C (p.Tyr4881His) | |
19 | g.38585024T>G | CA405690612 | RYR1 | c.1664T>G c.3061T>G c.3033T>G n.121T>G c.14728T>G (p.Tyr4910Asp) c.14713T>G (p.Tyr4905Asp) c.14710T>G (p.Tyr4904Asp) c.14695T>G (p.Tyr4899Asp) c.14725T>G (p.Tyr4909Asp) c.14641T>G (p.Tyr4881Asp) | |
19 | g.38585024T= | CA2335094968 | RYR1 | c.1664T= c.3061T= c.3033T= n.121T= c.14728T= (p.Tyr4910=) c.14713T= (p.Tyr4905=) c.14710T= (p.Tyr4904=) c.14695T= (p.Tyr4899=) c.14725T= (p.Tyr4909=) c.14641T= (p.Tyr4881=) | |
19 | g.38585025A>C | CA405690616 | RYR1 | c.1665A>C c.3062A>C c.3034A>C n.122A>C c.14729A>C (p.Tyr4910Ser) c.14714A>C (p.Tyr4905Ser) c.14711A>C (p.Tyr4904Ser) c.14696A>C (p.Tyr4899Ser) c.14726A>C (p.Tyr4909Ser) c.14642A>C (p.Tyr4881Ser) | |
19 | g.38585025A>G | CA405690622 | RYR1 | c.1665A>G c.3062A>G c.3034A>G n.122A>G c.14729A>G (p.Tyr4910Cys) c.14714A>G (p.Tyr4905Cys) c.14711A>G (p.Tyr4904Cys) c.14696A>G (p.Tyr4899Cys) c.14726A>G (p.Tyr4909Cys) c.14642A>G (p.Tyr4881Cys) | |
19 | g.38585025A>T | CA405690631 | RYR1 | c.1665A>T c.3062A>T c.3034A>T n.122A>T c.14729A>T (p.Tyr4910Phe) c.14714A>T (p.Tyr4905Phe) c.14711A>T (p.Tyr4904Phe) c.14696A>T (p.Tyr4899Phe) c.14726A>T (p.Tyr4909Phe) c.14642A>T (p.Tyr4881Phe) | |
19 | g.38585026C>A | CA405690636 | RYR1 | c.1666C>A c.3063C>A c.3035C>A n.123C>A c.14730C>A (p.Tyr4910Ter) c.14715C>A (p.Tyr4905Ter) c.14712C>A (p.Tyr4904Ter) c.14697C>A (p.Tyr4899Ter) c.14727C>A (p.Tyr4909Ter) c.14643C>A (p.Tyr4881Ter) | |
19 | g.38585026C= | CA2335094969 | RYR1 | c.1666C= c.3063C= c.3035C= n.123C= c.14730C= (p.Tyr4910=) c.14715C= (p.Tyr4905=) c.14712C= (p.Tyr4904=) c.14697C= (p.Tyr4899=) c.14727C= (p.Tyr4909=) c.14643C= (p.Tyr4881=) | |
19 | g.38585026C>G | CA405690638 | RYR1 | c.1666C>G c.3063C>G c.3035C>G n.123C>G c.14730C>G (p.Tyr4910Ter) c.14715C>G (p.Tyr4905Ter) c.14712C>G (p.Tyr4904Ter) c.14697C>G (p.Tyr4899Ter) c.14727C>G (p.Tyr4909Ter) c.14643C>G (p.Tyr4881Ter) | |
19 | g.38585026C>T | CA061563 | RYR1 | c.1666C>T c.3063C>T c.3035C>T n.123C>T c.14730C>T (p.Tyr4910=) c.14715C>T (p.Tyr4905=) c.14712C>T (p.Tyr4904=) c.14697C>T (p.Tyr4899=) c.14727C>T (p.Tyr4909=) c.14643C>T (p.Tyr4881=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38585027G>A | CA10606470 | RYR1 | c.1667G>A c.3064G>A c.3036G>A n.124G>A c.14731G>A (p.Glu4911Lys) c.14716G>A (p.Glu4906Lys) c.14713G>A (p.Glu4905Lys) c.14698G>A (p.Glu4900Lys) c.14728G>A (p.Glu4910Lys) c.14644G>A (p.Glu4882Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585027G>C | CA405690645 | RYR1 | c.1667G>C c.3064G>C c.3036G>C n.124G>C c.14731G>C (p.Glu4911Gln) c.14716G>C (p.Glu4906Gln) c.14713G>C (p.Glu4905Gln) c.14698G>C (p.Glu4900Gln) c.14728G>C (p.Glu4910Gln) c.14644G>C (p.Glu4882Gln) | |
19 | g.38585027G= | CA2335094970 | RYR1 | c.1667G= c.3064G= c.3036G= n.124G= c.14731G= (p.Glu4911=) c.14716G= (p.Glu4906=) c.14713G= (p.Glu4905=) c.14698G= (p.Glu4900=) c.14728G= (p.Glu4910=) c.14644G= (p.Glu4882=) | |
19 | g.38585027G>T | CA405690647 | RYR1 | c.1667G>T c.3064G>T c.3036G>T n.124G>T c.14731G>T (p.Glu4911Ter) c.14716G>T (p.Glu4906Ter) c.14713G>T (p.Glu4905Ter) c.14698G>T (p.Glu4900Ter) c.14728G>T (p.Glu4910Ter) c.14644G>T (p.Glu4882Ter) | |
19 | g.38585028A>C | CA405690656 | RYR1 | c.1668A>C c.3065A>C c.3037A>C n.125A>C c.14732A>C (p.Glu4911Ala) c.14717A>C (p.Glu4906Ala) c.14714A>C (p.Glu4905Ala) c.14699A>C (p.Glu4900Ala) c.14729A>C (p.Glu4910Ala) c.14645A>C (p.Glu4882Ala) | |
19 | g.38585028A>G | CA405690652 | RYR1 | c.1668A>G c.3065A>G c.3037A>G n.125A>G c.14732A>G (p.Glu4911Gly) c.14717A>G (p.Glu4906Gly) c.14714A>G (p.Glu4905Gly) c.14699A>G (p.Glu4900Gly) c.14729A>G (p.Glu4910Gly) c.14645A>G (p.Glu4882Gly) | |
19 | g.38585028A>T | CA405690650 | RYR1 | c.1668A>T c.3065A>T c.3037A>T n.125A>T c.14732A>T (p.Glu4911Val) c.14717A>T (p.Glu4906Val) c.14714A>T (p.Glu4905Val) c.14699A>T (p.Glu4900Val) c.14729A>T (p.Glu4910Val) c.14645A>T (p.Glu4882Val) | |
19 | g.38585029G>A | CA507246383 | RYR1 | c.1669G>A c.3066G>A c.3038G>A n.126G>A c.14733G>A (p.Glu4911=) c.14718G>A (p.Glu4906=) c.14715G>A (p.Glu4905=) c.14700G>A (p.Glu4900=) c.14730G>A (p.Glu4910=) c.14646G>A (p.Glu4882=) | ClinVar |
19 | g.38585029G>C | CA405690659 | RYR1 | c.1669G>C c.3066G>C c.3038G>C n.126G>C c.14733G>C (p.Glu4911Asp) c.14718G>C (p.Glu4906Asp) c.14715G>C (p.Glu4905Asp) c.14700G>C (p.Glu4900Asp) c.14730G>C (p.Glu4910Asp) c.14646G>C (p.Glu4882Asp) | |
19 | g.38585029G>T | CA405690661 | RYR1 | c.1669G>T c.3066G>T c.3038G>T n.126G>T c.14733G>T (p.Glu4911Asp) c.14718G>T (p.Glu4906Asp) c.14715G>T (p.Glu4905Asp) c.14700G>T (p.Glu4900Asp) c.14730G>T (p.Glu4910Asp) c.14646G>T (p.Glu4882Asp) | |
19 | g.38585030C>A | CA405690663 | RYR1 | c.1670C>A c.3067C>A c.3039C>A n.127C>A c.14734C>A (p.Leu4912Ile) c.14719C>A (p.Leu4907Ile) c.14716C>A (p.Leu4906Ile) c.14701C>A (p.Leu4901Ile) c.14731C>A (p.Leu4911Ile) c.14647C>A (p.Leu4883Ile) | |
19 | g.38585030C>G | CA405690669 | RYR1 | c.1670C>G c.3067C>G c.3039C>G n.127C>G c.14734C>G (p.Leu4912Val) c.14719C>G (p.Leu4907Val) c.14716C>G (p.Leu4906Val) c.14701C>G (p.Leu4901Val) c.14731C>G (p.Leu4911Val) c.14647C>G (p.Leu4883Val) | |
19 | g.38585030C>T | CA405690672 | RYR1 | c.1670C>T c.3067C>T c.3039C>T n.127C>T c.14734C>T (p.Leu4912Phe) c.14719C>T (p.Leu4907Phe) c.14716C>T (p.Leu4906Phe) c.14701C>T (p.Leu4901Phe) c.14731C>T (p.Leu4911Phe) c.14647C>T (p.Leu4883Phe) | gnomAD v4 |
19 | g.38585031T>A | CA405690679 | RYR1 | c.1671T>A c.3068T>A c.3040T>A n.128T>A c.14735T>A (p.Leu4912His) c.14720T>A (p.Leu4907His) c.14717T>A (p.Leu4906His) c.14702T>A (p.Leu4901His) c.14732T>A (p.Leu4911His) c.14648T>A (p.Leu4883His) | |
19 | g.38585031T>C | CA405690681 | RYR1 | c.1671T>C c.3068T>C c.3040T>C n.128T>C c.14735T>C (p.Leu4912Pro) c.14720T>C (p.Leu4907Pro) c.14717T>C (p.Leu4906Pro) c.14702T>C (p.Leu4901Pro) c.14732T>C (p.Leu4911Pro) c.14648T>C (p.Leu4883Pro) | ClinVar |
19 | g.38585031T>G | CA405690684 | RYR1 | c.1671T>G c.3068T>G c.3040T>G n.128T>G c.14735T>G (p.Leu4912Arg) c.14720T>G (p.Leu4907Arg) c.14717T>G (p.Leu4906Arg) c.14702T>G (p.Leu4901Arg) c.14732T>G (p.Leu4911Arg) c.14648T>G (p.Leu4883Arg) | |
19 | g.38585032C>A | CA507246384 | RYR1 | c.1672C>A c.3069C>A c.3041C>A n.129C>A c.14736C>A (p.Leu4912=) c.14721C>A (p.Leu4907=) c.14718C>A (p.Leu4906=) c.14703C>A (p.Leu4901=) c.14733C>A (p.Leu4911=) c.14649C>A (p.Leu4883=) | |
19 | g.38585032C= | CA2335094971 | RYR1 | c.1672C= c.3069C= c.3041C= n.129C= c.14736C= (p.Leu4912=) c.14721C= (p.Leu4907=) c.14718C= (p.Leu4906=) c.14703C= (p.Leu4901=) c.14733C= (p.Leu4911=) c.14649C= (p.Leu4883=) | |
19 | g.38585032C>G | CA507246385 | RYR1 | c.1672C>G c.3069C>G c.3041C>G n.129C>G c.14736C>G (p.Leu4912=) c.14721C>G (p.Leu4907=) c.14718C>G (p.Leu4906=) c.14703C>G (p.Leu4901=) c.14733C>G (p.Leu4911=) c.14649C>G (p.Leu4883=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585032C>T | CA507246386 | RYR1 | c.1672C>T c.3069C>T c.3041C>T n.129C>T c.14736C>T (p.Leu4912=) c.14721C>T (p.Leu4907=) c.14718C>T (p.Leu4906=) c.14703C>T (p.Leu4901=) c.14733C>T (p.Leu4911=) c.14649C>T (p.Leu4883=) | |
19 | g.38585033T>A | CA405690695 | RYR1 | c.1673T>A c.3070T>A c.3042T>A n.130T>A c.14737T>A (p.Tyr4913Asn) c.14722T>A (p.Tyr4908Asn) c.14719T>A (p.Tyr4907Asn) c.14704T>A (p.Tyr4902Asn) c.14734T>A (p.Tyr4912Asn) c.14650T>A (p.Tyr4884Asn) | ClinVar |
19 | g.38585033T>C | CA405690698 | RYR1 | c.1673T>C c.3070T>C c.3042T>C n.130T>C c.14737T>C (p.Tyr4913His) c.14722T>C (p.Tyr4908His) c.14719T>C (p.Tyr4907His) c.14704T>C (p.Tyr4902His) c.14734T>C (p.Tyr4912His) c.14650T>C (p.Tyr4884His) | gnomAD v4 |
19 | g.38585033T>G | CA405690700 | RYR1 | c.1673T>G c.3070T>G c.3042T>G n.130T>G c.14737T>G (p.Tyr4913Asp) c.14722T>G (p.Tyr4908Asp) c.14719T>G (p.Tyr4907Asp) c.14704T>G (p.Tyr4902Asp) c.14734T>G (p.Tyr4912Asp) c.14650T>G (p.Tyr4884Asp) | |
19 | g.38585034A= | CA2335094972 | RYR1 | c.1674A= c.3071A= c.3043A= n.131A= c.14738A= (p.Tyr4913=) c.14723A= (p.Tyr4908=) c.14720A= (p.Tyr4907=) c.14705A= (p.Tyr4902=) c.14735A= (p.Tyr4912=) c.14651A= (p.Tyr4884=) | |
19 | g.38585034A>C | CA405690705 | RYR1 | c.1674A>C c.3071A>C c.3043A>C n.131A>C c.14738A>C (p.Tyr4913Ser) c.14723A>C (p.Tyr4908Ser) c.14720A>C (p.Tyr4907Ser) c.14705A>C (p.Tyr4902Ser) c.14735A>C (p.Tyr4912Ser) c.14651A>C (p.Tyr4884Ser) | gnomAD v4 |
19 | g.38585034A>G | CA405690708 | RYR1 | c.1674A>G c.3071A>G c.3043A>G n.131A>G c.14738A>G (p.Tyr4913Cys) c.14723A>G (p.Tyr4908Cys) c.14720A>G (p.Tyr4907Cys) c.14705A>G (p.Tyr4902Cys) c.14735A>G (p.Tyr4912Cys) c.14651A>G (p.Tyr4884Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38585034A>T | CA405690704 | RYR1 | c.1674A>T c.3071A>T c.3043A>T n.131A>T c.14738A>T (p.Tyr4913Phe) c.14723A>T (p.Tyr4908Phe) c.14720A>T (p.Tyr4907Phe) c.14705A>T (p.Tyr4902Phe) c.14735A>T (p.Tyr4912Phe) c.14651A>T (p.Tyr4884Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585035C>A | CA405690711 | RYR1 | c.1675C>A c.3072C>A c.3044C>A n.132C>A c.14739C>A (p.Tyr4913Ter) c.14724C>A (p.Tyr4908Ter) c.14721C>A (p.Tyr4907Ter) c.14706C>A (p.Tyr4902Ter) c.14736C>A (p.Tyr4912Ter) c.14652C>A (p.Tyr4884Ter) | |
19 | g.38585035C= | CA2335094973 | RYR1 | c.1675C= c.3072C= c.3044C= n.132C= c.14739C= (p.Tyr4913=) c.14724C= (p.Tyr4908=) c.14721C= (p.Tyr4907=) c.14706C= (p.Tyr4902=) c.14736C= (p.Tyr4912=) c.14652C= (p.Tyr4884=) | |
19 | g.38585035C>G | CA405690714 | RYR1 | c.1675C>G c.3072C>G c.3044C>G n.132C>G c.14739C>G (p.Tyr4913Ter) c.14724C>G (p.Tyr4908Ter) c.14721C>G (p.Tyr4907Ter) c.14706C>G (p.Tyr4902Ter) c.14736C>G (p.Tyr4912Ter) c.14652C>G (p.Tyr4884Ter) | |
19 | g.38585035C>T | CA507246387 | RYR1 | c.1675C>T c.3072C>T c.3044C>T n.132C>T c.14739C>T (p.Tyr4913=) c.14724C>T (p.Tyr4908=) c.14721C>T (p.Tyr4907=) c.14706C>T (p.Tyr4902=) c.14736C>T (p.Tyr4912=) c.14652C>T (p.Tyr4884=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38585036A= | CA2335094974 | RYR1 | c.1676A= c.3073A= c.3045A= n.133A= c.14740A= (p.Arg4914=) c.14725A= (p.Arg4909=) c.14722A= (p.Arg4908=) c.14707A= (p.Arg4903=) c.14737A= (p.Arg4913=) c.14653A= (p.Arg4885=) | |
19 | g.38585036A>C | CA507246388 | RYR1 | c.1676A>C c.3073A>C c.3045A>C n.133A>C c.14740A>C (p.Arg4914=) c.14725A>C (p.Arg4909=) c.14722A>C (p.Arg4908=) c.14707A>C (p.Arg4903=) c.14737A>C (p.Arg4913=) c.14653A>C (p.Arg4885=) | |
19 | g.38585036A>G | CA024242 | RYR1 | c.1676A>G c.3073A>G c.3045A>G n.133A>G c.14740A>G (p.Arg4914Gly) c.14725A>G (p.Arg4909Gly) c.14722A>G (p.Arg4908Gly) c.14707A>G (p.Arg4903Gly) c.14737A>G (p.Arg4913Gly) c.14653A>G (p.Arg4885Gly) | ClinVar dbSNP |
19 | g.38585036A>T | CA405690726 | RYR1 | c.1676A>T c.3073A>T c.3045A>T n.133A>T c.14740A>T (p.Arg4914Trp) c.14725A>T (p.Arg4909Trp) c.14722A>T (p.Arg4908Trp) c.14707A>T (p.Arg4903Trp) c.14737A>T (p.Arg4913Trp) c.14653A>T (p.Arg4885Trp) | |
19 | g.38585037G>A | CA405690729 | RYR1 | c.1677G>A c.3074G>A c.3046G>A n.134G>A c.14741G>A (p.Arg4914Lys) c.14726G>A (p.Arg4909Lys) c.14723G>A (p.Arg4908Lys) c.14708G>A (p.Arg4903Lys) c.14738G>A (p.Arg4913Lys) c.14654G>A (p.Arg4885Lys) | |
19 | g.38585037G>C | CA024244 | RYR1 | c.1677G>C c.3074G>C c.3046G>C n.134G>C c.14741G>C (p.Arg4914Thr) c.14726G>C (p.Arg4909Thr) c.14723G>C (p.Arg4908Thr) c.14708G>C (p.Arg4903Thr) c.14738G>C (p.Arg4913Thr) c.14654G>C (p.Arg4885Thr) | ClinVar dbSNP |
19 | g.38585037G= | CA2335094975 | RYR1 | c.1677G= c.3074G= c.3046G= n.134G= c.14741G= (p.Arg4914=) c.14726G= (p.Arg4909=) c.14723G= (p.Arg4908=) c.14708G= (p.Arg4903=) c.14738G= (p.Arg4913=) c.14654G= (p.Arg4885=) | |
19 | g.38585037G>T | CA405690734 | RYR1 | c.1677G>T c.3074G>T c.3046G>T n.134G>T c.14741G>T (p.Arg4914Met) c.14726G>T (p.Arg4909Met) c.14723G>T (p.Arg4908Met) c.14708G>T (p.Arg4903Met) c.14738G>T (p.Arg4913Met) c.14654G>T (p.Arg4885Met) | |
19 | g.38585038G>A | CA507246389 | RYR1 | c.1678G>A c.3075G>A c.3047G>A n.135G>A c.14742G>A (p.Arg4914=) c.14727G>A (p.Arg4909=) c.14724G>A (p.Arg4908=) c.14709G>A (p.Arg4903=) c.14739G>A (p.Arg4913=) c.14655G>A (p.Arg4885=) | gnomAD v4 |
19 | g.38585038G>C | CA405690735 | RYR1 | c.1678G>C c.3075G>C c.3047G>C n.135G>C c.14742G>C (p.Arg4914Ser) c.14727G>C (p.Arg4909Ser) c.14724G>C (p.Arg4908Ser) c.14709G>C (p.Arg4903Ser) c.14739G>C (p.Arg4913Ser) c.14655G>C (p.Arg4885Ser) | |
19 | g.38585038G>T | CA405690736 | RYR1 | c.1678G>T c.3075G>T c.3047G>T n.135G>T c.14742G>T (p.Arg4914Ser) c.14727G>T (p.Arg4909Ser) c.14724G>T (p.Arg4908Ser) c.14709G>T (p.Arg4903Ser) c.14739G>T (p.Arg4913Ser) c.14655G>T (p.Arg4885Ser) | |
19 | g.38585039G>A | CA405690737 | RYR1 | c.1679G>A c.3076G>A c.3048G>A n.136G>A c.14743G>A (p.Val4915Met) c.14728G>A (p.Val4910Met) c.14725G>A (p.Val4909Met) c.14710G>A (p.Val4904Met) c.14740G>A (p.Val4914Met) c.14656G>A (p.Val4886Met) | |
19 | g.38585039G>C | CA405690738 | RYR1 | c.1679G>C c.3076G>C c.3048G>C n.136G>C c.14743G>C (p.Val4915Leu) c.14728G>C (p.Val4910Leu) c.14725G>C (p.Val4909Leu) c.14710G>C (p.Val4904Leu) c.14740G>C (p.Val4914Leu) c.14656G>C (p.Val4886Leu) | |
19 | g.38585039G>T | CA405690740 | RYR1 | c.1679G>T c.3076G>T c.3048G>T n.136G>T c.14743G>T (p.Val4915Leu) c.14728G>T (p.Val4910Leu) c.14725G>T (p.Val4909Leu) c.14710G>T (p.Val4904Leu) c.14740G>T (p.Val4914Leu) c.14656G>T (p.Val4886Leu) | |
19 | g.38585040T>A | CA405690750 | RYR1 | c.1680T>A c.3077T>A c.3049T>A n.137T>A c.14744T>A (p.Val4915Glu) c.14729T>A (p.Val4910Glu) c.14726T>A (p.Val4909Glu) c.14711T>A (p.Val4904Glu) c.14741T>A (p.Val4914Glu) c.14657T>A (p.Val4886Glu) | |
19 | g.38585040T>C | CA405690741 | RYR1 | c.1680T>C c.3077T>C c.3049T>C n.137T>C c.14744T>C (p.Val4915Ala) c.14729T>C (p.Val4910Ala) c.14726T>C (p.Val4909Ala) c.14711T>C (p.Val4904Ala) c.14741T>C (p.Val4914Ala) c.14657T>C (p.Val4886Ala) | |
19 | g.38585040T>G | CA405690743 | RYR1 | c.1680T>G c.3077T>G c.3049T>G n.137T>G c.14744T>G (p.Val4915Gly) c.14729T>G (p.Val4910Gly) c.14726T>G (p.Val4909Gly) c.14711T>G (p.Val4904Gly) c.14741T>G (p.Val4914Gly) c.14657T>G (p.Val4886Gly) | |
19 | g.38585041G>A | CA507246390 | RYR1 | c.1681G>A c.3078G>A c.3050G>A n.138G>A c.14745G>A (p.Val4915=) c.14730G>A (p.Val4910=) c.14727G>A (p.Val4909=) c.14712G>A (p.Val4904=) c.14742G>A (p.Val4914=) c.14658G>A (p.Val4886=) | |
19 | g.38585041G>C | CA061570 | RYR1 | c.1681G>C c.3078G>C c.3050G>C n.138G>C c.14745G>C (p.Val4915=) c.14730G>C (p.Val4910=) c.14727G>C (p.Val4909=) c.14712G>C (p.Val4904=) c.14742G>C (p.Val4914=) c.14658G>C (p.Val4886=) | dbSNP ExAC |
19 | g.38585041G= | CA2335094976 | RYR1 | c.1681G= c.3078G= c.3050G= n.138G= c.14745G= (p.Val4915=) c.14730G= (p.Val4910=) c.14727G= (p.Val4909=) c.14712G= (p.Val4904=) c.14742G= (p.Val4914=) c.14658G= (p.Val4886=) | |
19 | g.38585041G>T | CA507246391 | RYR1 | c.1681G>T c.3078G>T c.3050G>T n.138G>T c.14745G>T (p.Val4915=) c.14730G>T (p.Val4910=) c.14727G>T (p.Val4909=) c.14712G>T (p.Val4904=) c.14742G>T (p.Val4914=) c.14658G>T (p.Val4886=) | |
19 | g.38585042G>A | CA405690753 | RYR1 | c.1682G>A c.3079G>A c.3051G>A n.139G>A c.14746G>A (p.Val4916Ile) c.14731G>A (p.Val4911Ile) c.14728G>A (p.Val4910Ile) c.14713G>A (p.Val4905Ile) c.14743G>A (p.Val4915Ile) c.14659G>A (p.Val4887Ile) | dbSNP |
19 | g.38585042G>C | CA405690757 | RYR1 | c.1682G>C c.3079G>C c.3051G>C n.139G>C c.14746G>C (p.Val4916Leu) c.14731G>C (p.Val4911Leu) c.14728G>C (p.Val4910Leu) c.14713G>C (p.Val4905Leu) c.14743G>C (p.Val4915Leu) c.14659G>C (p.Val4887Leu) | |
19 | g.38585042G= | CA2335094977 | RYR1 | c.1682G= c.3079G= c.3051G= n.139G= c.14746G= (p.Val4916=) c.14731G= (p.Val4911=) c.14728G= (p.Val4910=) c.14713G= (p.Val4905=) c.14743G= (p.Val4915=) c.14659G= (p.Val4887=) | |
19 | g.38585042G>T | CA405690759 | RYR1 | c.1682G>T c.3079G>T c.3051G>T n.139G>T c.14746G>T (p.Val4916Phe) c.14731G>T (p.Val4911Phe) c.14728G>T (p.Val4910Phe) c.14713G>T (p.Val4905Phe) c.14743G>T (p.Val4915Phe) c.14659G>T (p.Val4887Phe) | |
19 | g.38585043T>A | CA405690763 | RYR1 | c.1683T>A c.3080T>A c.3052T>A n.140T>A c.14747T>A (p.Val4916Asp) c.14732T>A (p.Val4911Asp) c.14729T>A (p.Val4910Asp) c.14714T>A (p.Val4905Asp) c.14744T>A (p.Val4915Asp) c.14660T>A (p.Val4887Asp) | |
19 | g.38585043T>C | CA405690768 | RYR1 | c.1683T>C c.3080T>C c.3052T>C n.140T>C c.14747T>C (p.Val4916Ala) c.14732T>C (p.Val4911Ala) c.14729T>C (p.Val4910Ala) c.14714T>C (p.Val4905Ala) c.14744T>C (p.Val4915Ala) c.14660T>C (p.Val4887Ala) | |
19 | g.38585043T>G | CA405690769 | RYR1 | c.1683T>G c.3080T>G c.3052T>G n.140T>G c.14747T>G (p.Val4916Gly) c.14732T>G (p.Val4911Gly) c.14729T>G (p.Val4910Gly) c.14714T>G (p.Val4905Gly) c.14744T>G (p.Val4915Gly) c.14660T>G (p.Val4887Gly) | |
19 | g.38585044C>A | CA507246392 | RYR1 | c.1684C>A c.3081C>A c.3053C>A n.141C>A c.14748C>A (p.Val4916=) c.14733C>A (p.Val4911=) c.14730C>A (p.Val4910=) c.14715C>A (p.Val4905=) c.14745C>A (p.Val4915=) c.14661C>A (p.Val4887=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585044C= | CA2335094978 | RYR1 | c.1684C= c.3081C= c.3053C= n.141C= c.14748C= (p.Val4916=) c.14733C= (p.Val4911=) c.14730C= (p.Val4910=) c.14715C= (p.Val4905=) c.14745C= (p.Val4915=) c.14661C= (p.Val4887=) | |
19 | g.38585044C>G | CA507246393 | RYR1 | c.1684C>G c.3081C>G c.3053C>G n.141C>G c.14748C>G (p.Val4916=) c.14733C>G (p.Val4911=) c.14730C>G (p.Val4910=) c.14715C>G (p.Val4905=) c.14745C>G (p.Val4915=) c.14661C>G (p.Val4887=) | |
19 | g.38585044C>T | CA507246394 | RYR1 | c.1684C>T c.3081C>T c.3053C>T n.141C>T c.14748C>T (p.Val4916=) c.14733C>T (p.Val4911=) c.14730C>T (p.Val4910=) c.14715C>T (p.Val4905=) c.14745C>T (p.Val4915=) c.14661C>T (p.Val4887=) | |
19 | g.38585045T>A | CA405690772 | RYR1 | c.1685T>A c.3082T>A c.3054T>A n.142T>A c.14749T>A (p.Phe4917Ile) c.14734T>A (p.Phe4912Ile) c.14731T>A (p.Phe4911Ile) c.14716T>A (p.Phe4906Ile) c.14746T>A (p.Phe4916Ile) c.14662T>A (p.Phe4888Ile) | ClinVar |
19 | g.38585045T>C | CA405690775 | RYR1 | c.1685T>C c.3082T>C c.3054T>C n.142T>C c.14749T>C (p.Phe4917Leu) c.14734T>C (p.Phe4912Leu) c.14731T>C (p.Phe4911Leu) c.14716T>C (p.Phe4906Leu) c.14746T>C (p.Phe4916Leu) c.14662T>C (p.Phe4888Leu) | ClinVar dbSNP |
19 | g.38585045T>G | CA405690776 | RYR1 | c.1685T>G c.3082T>G c.3054T>G n.142T>G c.14749T>G (p.Phe4917Val) c.14734T>G (p.Phe4912Val) c.14731T>G (p.Phe4911Val) c.14716T>G (p.Phe4906Val) c.14746T>G (p.Phe4916Val) c.14662T>G (p.Phe4888Val) | |
19 | g.38585045T= | CA2335094979 | RYR1 | c.1685T= c.3082T= c.3054T= n.142T= c.14749T= (p.Phe4917=) c.14734T= (p.Phe4912=) c.14731T= (p.Phe4911=) c.14716T= (p.Phe4906=) c.14746T= (p.Phe4916=) c.14662T= (p.Phe4888=) | |
19 | g.38585046T>A | CA405690785 | RYR1 | c.1686T>A c.3083T>A c.3055T>A n.143T>A c.14750T>A (p.Phe4917Tyr) c.14735T>A (p.Phe4912Tyr) c.14732T>A (p.Phe4911Tyr) c.14717T>A (p.Phe4906Tyr) c.14747T>A (p.Phe4916Tyr) c.14663T>A (p.Phe4888Tyr) | |
19 | g.38585046T>C | CA405690786 | RYR1 | c.1686T>C c.3083T>C c.3055T>C n.143T>C c.14750T>C (p.Phe4917Ser) c.14735T>C (p.Phe4912Ser) c.14732T>C (p.Phe4911Ser) c.14717T>C (p.Phe4906Ser) c.14747T>C (p.Phe4916Ser) c.14663T>C (p.Phe4888Ser) | |
19 | g.38585046T>G | CA405690789 | RYR1 | c.1686T>G c.3083T>G c.3055T>G n.143T>G c.14750T>G (p.Phe4917Cys) c.14735T>G (p.Phe4912Cys) c.14732T>G (p.Phe4911Cys) c.14717T>G (p.Phe4906Cys) c.14747T>G (p.Phe4916Cys) c.14663T>G (p.Phe4888Cys) | |
19 | g.38585047C>A | CA405690794 | RYR1 | c.1687C>A c.3084C>A c.3056C>A n.144C>A c.14751C>A (p.Phe4917Leu) c.14736C>A (p.Phe4912Leu) c.14733C>A (p.Phe4911Leu) c.14718C>A (p.Phe4906Leu) c.14748C>A (p.Phe4916Leu) c.14664C>A (p.Phe4888Leu) | ClinVar |
19 | g.38585047C= | CA2335094980 | RYR1 | c.1687C= c.3084C= c.3056C= n.144C= c.14751C= (p.Phe4917=) c.14736C= (p.Phe4912=) c.14733C= (p.Phe4911=) c.14718C= (p.Phe4906=) c.14748C= (p.Phe4916=) c.14664C= (p.Phe4888=) | |
19 | g.38585047C>G | CA405690800 | RYR1 | c.1687C>G c.3084C>G c.3056C>G n.144C>G c.14751C>G (p.Phe4917Leu) c.14736C>G (p.Phe4912Leu) c.14733C>G (p.Phe4911Leu) c.14718C>G (p.Phe4906Leu) c.14748C>G (p.Phe4916Leu) c.14664C>G (p.Phe4888Leu) | |
19 | g.38585047C>T | CA061571 | RYR1 | c.1687C>T c.3084C>T c.3056C>T n.144C>T c.14751C>T (p.Phe4917=) c.14736C>T (p.Phe4912=) c.14733C>T (p.Phe4911=) c.14718C>T (p.Phe4906=) c.14748C>T (p.Phe4916=) c.14664C>T (p.Phe4888=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38585048G>A | CA405690809 | RYR1 | c.1688G>A c.3085G>A c.3057G>A n.145G>A c.14752G>A (p.Asp4918Asn) c.14737G>A (p.Asp4913Asn) c.14734G>A (p.Asp4912Asn) c.14719G>A (p.Asp4907Asn) c.14749G>A (p.Asp4917Asn) c.14665G>A (p.Asp4889Asn) | ClinVar dbSNP COSMIC |
19 | g.38585048G>C | CA405690804 | RYR1 | c.1688G>C c.3085G>C c.3057G>C n.145G>C c.14752G>C (p.Asp4918His) c.14737G>C (p.Asp4913His) c.14734G>C (p.Asp4912His) c.14719G>C (p.Asp4907His) c.14749G>C (p.Asp4917His) c.14665G>C (p.Asp4889His) | |
19 | g.38585048G= | CA2335094981 | RYR1 | c.1688G= c.3085G= c.3057G= n.145G= c.14752G= (p.Asp4918=) c.14737G= (p.Asp4913=) c.14734G= (p.Asp4912=) c.14719G= (p.Asp4907=) c.14749G= (p.Asp4917=) c.14665G= (p.Asp4889=) | |
19 | g.38585048G>T | CA405690807 | RYR1 | c.1688G>T c.3085G>T c.3057G>T n.145G>T c.14752G>T (p.Asp4918Tyr) c.14737G>T (p.Asp4913Tyr) c.14734G>T (p.Asp4912Tyr) c.14719G>T (p.Asp4907Tyr) c.14749G>T (p.Asp4917Tyr) c.14665G>T (p.Asp4889Tyr) | |
19 | g.38585049A>C | CA405690811 | RYR1 | c.1689A>C c.3086A>C c.3058A>C n.146A>C c.14753A>C (p.Asp4918Ala) c.14738A>C (p.Asp4913Ala) c.14735A>C (p.Asp4912Ala) c.14720A>C (p.Asp4907Ala) c.14750A>C (p.Asp4917Ala) c.14666A>C (p.Asp4889Ala) | |
19 | g.38585049A>G | CA405690819 | RYR1 | c.1689A>G c.3086A>G c.3058A>G n.146A>G c.14753A>G (p.Asp4918Gly) c.14738A>G (p.Asp4913Gly) c.14735A>G (p.Asp4912Gly) c.14720A>G (p.Asp4907Gly) c.14750A>G (p.Asp4917Gly) c.14666A>G (p.Asp4889Gly) | |
19 | g.38585049A>T | CA405690827 | RYR1 | c.1689A>T c.3086A>T c.3058A>T n.146A>T c.14753A>T (p.Asp4918Val) c.14738A>T (p.Asp4913Val) c.14735A>T (p.Asp4912Val) c.14720A>T (p.Asp4907Val) c.14750A>T (p.Asp4917Val) c.14666A>T (p.Asp4889Val) | |
19 | g.38585050C>A | CA405690831 | RYR1 | c.1690C>A c.3087C>A c.3059C>A n.147C>A c.14754C>A (p.Asp4918Glu) c.14739C>A (p.Asp4913Glu) c.14736C>A (p.Asp4912Glu) c.14721C>A (p.Asp4907Glu) c.14751C>A (p.Asp4917Glu) c.14667C>A (p.Asp4889Glu) | |
19 | g.38585050C= | CA2335094982 | RYR1 | c.1690C= c.3087C= c.3059C= n.147C= c.14754C= (p.Asp4918=) c.14739C= (p.Asp4913=) c.14736C= (p.Asp4912=) c.14721C= (p.Asp4907=) c.14751C= (p.Asp4917=) c.14667C= (p.Asp4889=) | |
19 | g.38585050C>G | CA405690832 | RYR1 | c.1690C>G c.3087C>G c.3059C>G n.147C>G c.14754C>G (p.Asp4918Glu) c.14739C>G (p.Asp4913Glu) c.14736C>G (p.Asp4912Glu) c.14721C>G (p.Asp4907Glu) c.14751C>G (p.Asp4917Glu) c.14667C>G (p.Asp4889Glu) | |
19 | g.38585050C>T | CA081310 | RYR1 | c.1690C>T c.3087C>T c.3059C>T n.147C>T c.14754C>T (p.Asp4918=) c.14739C>T (p.Asp4913=) c.14736C>T (p.Asp4912=) c.14721C>T (p.Asp4907=) c.14751C>T (p.Asp4917=) c.14667C>T (p.Asp4889=) | ClinVar dbSNP gnomAD v4 |
19 | g.38585054_38585074dup | CA2697556505 | RYR1 | c.1694_1714dup c.3091_3111dup c.3063_3083dup n.151_171dup c.14758_14778dup (p.Ile4926_Val4927insThrPhePhePhePheValIle) c.14743_14763dup (p.Ile4921_Val4922insThrPhePhePhePheValIle) c.14740_14760dup (p.Ile4920_Val4921insThrPhePhePhePheValIle) c.14725_14745dup (p.Ile4915_Val4916insThrPhePhePhePheValIle) c.14755_14775dup (p.Ile4925_Val4926insThrPhePhePhePheValIle) c.14671_14691dup (p.Ile4897_Val4898insThrPhePhePhePheValIle) | ClinVar |
19 | g.38585051A>C | CA405690833 | RYR1 | c.1691A>C c.3088A>C c.3060A>C n.148A>C c.14755A>C (p.Ile4919Leu) c.14740A>C (p.Ile4914Leu) c.14737A>C (p.Ile4913Leu) c.14722A>C (p.Ile4908Leu) c.14752A>C (p.Ile4918Leu) c.14668A>C (p.Ile4890Leu) | |
19 | g.38585051A>G | CA405690834 | RYR1 | c.1691A>G c.3088A>G c.3060A>G n.148A>G c.14755A>G (p.Ile4919Val) c.14740A>G (p.Ile4914Val) c.14737A>G (p.Ile4913Val) c.14722A>G (p.Ile4908Val) c.14752A>G (p.Ile4918Val) c.14668A>G (p.Ile4890Val) | gnomAD v4 |
19 | g.38585051A>T | CA405690835 | RYR1 | c.1691A>T c.3088A>T c.3060A>T n.148A>T c.14755A>T (p.Ile4919Phe) c.14740A>T (p.Ile4914Phe) c.14737A>T (p.Ile4913Phe) c.14722A>T (p.Ile4908Phe) c.14752A>T (p.Ile4918Phe) c.14668A>T (p.Ile4890Phe) | |
19 | g.38585052T>A | CA405690836 | RYR1 | c.1692T>A c.3089T>A c.3061T>A n.149T>A c.14756T>A (p.Ile4919Asn) c.14741T>A (p.Ile4914Asn) c.14738T>A (p.Ile4913Asn) c.14723T>A (p.Ile4908Asn) c.14753T>A (p.Ile4918Asn) c.14669T>A (p.Ile4890Asn) | |
19 | g.38585052T>C | CA405690837 | RYR1 | c.1692T>C c.3089T>C c.3061T>C n.149T>C c.14756T>C (p.Ile4919Thr) c.14741T>C (p.Ile4914Thr) c.14738T>C (p.Ile4913Thr) c.14723T>C (p.Ile4908Thr) c.14753T>C (p.Ile4918Thr) c.14669T>C (p.Ile4890Thr) | |
19 | g.38585052T>G | CA405690839 | RYR1 | c.1692T>G c.3089T>G c.3061T>G n.149T>G c.14756T>G (p.Ile4919Ser) c.14741T>G (p.Ile4914Ser) c.14738T>G (p.Ile4913Ser) c.14723T>G (p.Ile4908Ser) c.14753T>G (p.Ile4918Ser) c.14669T>G (p.Ile4890Ser) | |
19 | g.38585053C>A | CA061575 | RYR1 | c.1693C>A c.3090C>A c.3062C>A n.150C>A c.14757C>A (p.Ile4919=) c.14742C>A (p.Ile4914=) c.14739C>A (p.Ile4913=) c.14724C>A (p.Ile4908=) c.14754C>A (p.Ile4918=) c.14670C>A (p.Ile4890=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585053C= | CA2335094983 | RYR1 | c.1693C= c.3090C= c.3062C= n.150C= c.14757C= (p.Ile4919=) c.14742C= (p.Ile4914=) c.14739C= (p.Ile4913=) c.14724C= (p.Ile4908=) c.14754C= (p.Ile4918=) c.14670C= (p.Ile4890=) | |
19 | g.38585053C>G | CA405690841 | RYR1 | c.1693C>G c.3090C>G c.3062C>G n.150C>G c.14757C>G (p.Ile4919Met) c.14742C>G (p.Ile4914Met) c.14739C>G (p.Ile4913Met) c.14724C>G (p.Ile4908Met) c.14754C>G (p.Ile4918Met) c.14670C>G (p.Ile4890Met) | |
19 | g.38585053C>T | CA507246395 | RYR1 | c.1693C>T c.3090C>T c.3062C>T n.150C>T c.14757C>T (p.Ile4919=) c.14742C>T (p.Ile4914=) c.14739C>T (p.Ile4913=) c.14724C>T (p.Ile4908=) c.14754C>T (p.Ile4918=) c.14670C>T (p.Ile4890=) | ClinVar dbSNP gnomAD v4 |
19 | g.38585054A= | CA2335094984 | RYR1 | c.1694A= c.3091A= c.3063A= n.151A= c.14758A= (p.Thr4920=) c.14743A= (p.Thr4915=) c.14740A= (p.Thr4914=) c.14725A= (p.Thr4909=) c.14755A= (p.Thr4919=) c.14671A= (p.Thr4891=) | |
19 | g.38585054A>C | CA405690843 | RYR1 | c.1694A>C c.3091A>C c.3063A>C n.151A>C c.14758A>C (p.Thr4920Pro) c.14743A>C (p.Thr4915Pro) c.14740A>C (p.Thr4914Pro) c.14725A>C (p.Thr4909Pro) c.14755A>C (p.Thr4919Pro) c.14671A>C (p.Thr4891Pro) | dbSNP |
19 | g.38585054A>G | CA405690844 | RYR1 | c.1694A>G c.3091A>G c.3063A>G n.151A>G c.14758A>G (p.Thr4920Ala) c.14743A>G (p.Thr4915Ala) c.14740A>G (p.Thr4914Ala) c.14725A>G (p.Thr4909Ala) c.14755A>G (p.Thr4919Ala) c.14671A>G (p.Thr4891Ala) | |
19 | g.38585054A>T | CA405690850 | RYR1 | c.1694A>T c.3091A>T c.3063A>T n.151A>T c.14758A>T (p.Thr4920Ser) c.14743A>T (p.Thr4915Ser) c.14740A>T (p.Thr4914Ser) c.14725A>T (p.Thr4909Ser) c.14755A>T (p.Thr4919Ser) c.14671A>T (p.Thr4891Ser) | |
19 | g.38585055C>A | CA024246 | RYR1 | c.1695C>A c.3092C>A c.3064C>A n.152C>A c.14759C>A (p.Thr4920Asn) c.14744C>A (p.Thr4915Asn) c.14741C>A (p.Thr4914Asn) c.14726C>A (p.Thr4909Asn) c.14756C>A (p.Thr4919Asn) c.14672C>A (p.Thr4891Asn) | ClinVar dbSNP |
19 | g.38585055C= | CA2335094985 | RYR1 | c.1695C= c.3092C= c.3064C= n.152C= c.14759C= (p.Thr4920=) c.14744C= (p.Thr4915=) c.14741C= (p.Thr4914=) c.14726C= (p.Thr4909=) c.14756C= (p.Thr4919=) c.14672C= (p.Thr4891=) | |
19 | g.38585055C>G | CA405690857 | RYR1 | c.1695C>G c.3092C>G c.3064C>G n.152C>G c.14759C>G (p.Thr4920Ser) c.14744C>G (p.Thr4915Ser) c.14741C>G (p.Thr4914Ser) c.14726C>G (p.Thr4909Ser) c.14756C>G (p.Thr4919Ser) c.14672C>G (p.Thr4891Ser) | |
19 | g.38585055C>T | CA405690861 | RYR1 | c.1695C>T c.3092C>T c.3064C>T n.152C>T c.14759C>T (p.Thr4920Ile) c.14744C>T (p.Thr4915Ile) c.14741C>T (p.Thr4914Ile) c.14726C>T (p.Thr4909Ile) c.14756C>T (p.Thr4919Ile) c.14672C>T (p.Thr4891Ile) | ClinVar dbSNP |
19 | g.38585055_38585058delinsCCTT | CA2335094986 | RYR1 | c.1695_1698delinsCCTT c.3092_3095delinsCCTT c.3064_3067delinsCCTT n.152_155delinsCCTT c.14759_14762delinsCCTT (p.Thr4920=) c.14744_14747delinsCCTT (p.Thr4915=) c.14741_14744delinsCCTT (p.Thr4914=) c.14726_14729delinsCCTT (p.Thr4909=) c.14756_14759delinsCCTT (p.Thr4919=) c.14672_14675delinsCCTT (p.Thr4891=) | |
19 | g.38585056C>A | CA081311 | RYR1 | c.1696C>A c.3093C>A c.3065C>A n.153C>A c.14760C>A (p.Thr4920=) c.14745C>A (p.Thr4915=) c.14742C>A (p.Thr4914=) c.14727C>A (p.Thr4909=) c.14757C>A (p.Thr4919=) c.14673C>A (p.Thr4891=) | |
19 | g.38585056C= | CA2335094987 | RYR1 | c.1696C= c.3093C= c.3065C= n.153C= c.14760C= (p.Thr4920=) c.14745C= (p.Thr4915=) c.14742C= (p.Thr4914=) c.14727C= (p.Thr4909=) c.14757C= (p.Thr4919=) c.14673C= (p.Thr4891=) | |
19 | g.38585056C>G | CA507246396 | RYR1 | c.1696C>G c.3093C>G c.3065C>G n.153C>G c.14760C>G (p.Thr4920=) c.14745C>G (p.Thr4915=) c.14742C>G (p.Thr4914=) c.14727C>G (p.Thr4909=) c.14757C>G (p.Thr4919=) c.14673C>G (p.Thr4891=) | ClinVar |
19 | g.38585056C>T | CA507246397 | RYR1 | c.1696C>T c.3093C>T c.3065C>T n.153C>T c.14760C>T (p.Thr4920=) c.14745C>T (p.Thr4915=) c.14742C>T (p.Thr4914=) c.14727C>T (p.Thr4909=) c.14757C>T (p.Thr4919=) c.14673C>T (p.Thr4891=) | ClinVar dbSNP gnomAD v4 |
19 | g.38585066_38585068dup | CA658658816 | RYR1 | c.1706_1708dup c.3103_3105dup c.3075_3077dup n.163_165dup c.14770_14772dup (p.Phe4924_Val4925insPhe) c.14755_14757dup (p.Phe4919_Val4920insPhe) c.14752_14754dup (p.Phe4918_Val4919insPhe) c.14737_14739dup (p.Phe4913_Val4914insPhe) c.14767_14769dup (p.Phe4923_Val4924insPhe) c.14683_14685dup (p.Phe4895_Val4896insPhe) | ClinVar dbSNP |
19 | g.38585063_38585068dup | CA2580614898 | RYR1 | c.1703_1708dup c.3100_3105dup c.3072_3077dup n.160_165dup c.14767_14772dup (p.Phe4924_Val4925insPhePhe) c.14752_14757dup (p.Phe4919_Val4920insPhePhe) c.14749_14754dup (p.Phe4918_Val4919insPhePhe) c.14734_14739dup (p.Phe4913_Val4914insPhePhe) c.14764_14769dup (p.Phe4923_Val4924insPhePhe) c.14680_14685dup (p.Phe4895_Val4896insPhePhe) | ClinVar |
19 | g.38585066_38585068del | CA16620842 | RYR1 | c.1706_1708del c.3103_3105del c.3075_3077del n.163_165del c.14770_14772del (p.Phe4924del) c.14755_14757del (p.Phe4919del) c.14752_14754del (p.Phe4918del) c.14737_14739del (p.Phe4913del) c.14767_14769del (p.Phe4923del) c.14683_14685del (p.Phe4895del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585063_38585068del | CA2695228718 | RYR1 | c.1703_1708del c.3100_3105del c.3072_3077del n.160_165del c.14767_14772del (p.Phe4923_Phe4924del) c.14752_14757del (p.Phe4918_Phe4919del) c.14749_14754del (p.Phe4917_Phe4918del) c.14734_14739del (p.Phe4912_Phe4913del) c.14764_14769del (p.Phe4922_Phe4923del) c.14680_14685del (p.Phe4894_Phe4895del) | |
19 | g.38585057T>A | CA405690863 | RYR1 | c.1697T>A c.3094T>A c.3066T>A n.154T>A c.14761T>A (p.Phe4921Ile) c.14746T>A (p.Phe4916Ile) c.14743T>A (p.Phe4915Ile) c.14728T>A (p.Phe4910Ile) c.14758T>A (p.Phe4920Ile) c.14674T>A (p.Phe4892Ile) | |
19 | g.38585057T>C | CA405690869 | RYR1 | c.1697T>C c.3094T>C c.3066T>C n.154T>C c.14761T>C (p.Phe4921Leu) c.14746T>C (p.Phe4916Leu) c.14743T>C (p.Phe4915Leu) c.14728T>C (p.Phe4910Leu) c.14758T>C (p.Phe4920Leu) c.14674T>C (p.Phe4892Leu) | |
19 | g.38585057T>G | CA405690872 | RYR1 | c.1697T>G c.3094T>G c.3066T>G n.154T>G c.14761T>G (p.Phe4921Val) c.14746T>G (p.Phe4916Val) c.14743T>G (p.Phe4915Val) c.14728T>G (p.Phe4910Val) c.14758T>G (p.Phe4920Val) c.14674T>G (p.Phe4892Val) | |
19 | g.38585057_38585058delinsAC | CA024248 | RYR1 | c.1697_1698delinsAC c.3094_3095delinsAC c.3066_3067delinsAC n.154_155delinsAC c.14761_14762delinsAC (p.Phe4921Thr) c.14746_14747delinsAC (p.Phe4916Thr) c.14743_14744delinsAC (p.Phe4915Thr) c.14728_14729delinsAC (p.Phe4910Thr) c.14758_14759delinsAC (p.Phe4920Thr) c.14674_14675delinsAC (p.Phe4892Thr) | ClinVar dbSNP |
19 | g.38585057_38585058delinsTT | CA2335094988 | RYR1 | c.1697_1698delinsTT c.3094_3095delinsTT c.3066_3067delinsTT n.154_155delinsTT c.14761_14762delinsTT (p.Phe4921=) c.14746_14747delinsTT (p.Phe4916=) c.14743_14744delinsTT (p.Phe4915=) c.14728_14729delinsTT (p.Phe4910=) c.14758_14759delinsTT (p.Phe4920=) c.14674_14675delinsTT (p.Phe4892=) | |
19 | g.38585058T>A | CA405690877 | RYR1 | c.1698T>A c.3095T>A c.3067T>A n.155T>A c.14762T>A (p.Phe4921Tyr) c.14747T>A (p.Phe4916Tyr) c.14744T>A (p.Phe4915Tyr) c.14729T>A (p.Phe4910Tyr) c.14759T>A (p.Phe4920Tyr) c.14675T>A (p.Phe4892Tyr) | |
19 | g.38585058T>C | CA024251 | RYR1 | c.1698T>C c.3095T>C c.3067T>C n.155T>C c.14762T>C (p.Phe4921Ser) c.14747T>C (p.Phe4916Ser) c.14744T>C (p.Phe4915Ser) c.14729T>C (p.Phe4910Ser) c.14759T>C (p.Phe4920Ser) c.14675T>C (p.Phe4892Ser) | ClinVar dbSNP |
19 | g.38585058T>G | CA405690881 | RYR1 | c.1698T>G c.3095T>G c.3067T>G n.155T>G c.14762T>G (p.Phe4921Cys) c.14747T>G (p.Phe4916Cys) c.14744T>G (p.Phe4915Cys) c.14729T>G (p.Phe4910Cys) c.14759T>G (p.Phe4920Cys) c.14675T>G (p.Phe4892Cys) | |
19 | g.38585058T= | CA2335094989 | RYR1 | c.1698T= c.3095T= c.3067T= n.155T= c.14762T= (p.Phe4921=) c.14747T= (p.Phe4916=) c.14744T= (p.Phe4915=) c.14729T= (p.Phe4910=) c.14759T= (p.Phe4920=) c.14675T= (p.Phe4892=) | |
19 | g.38585059C>A | CA405690888 | RYR1 | c.1699C>A c.3096C>A c.3068C>A n.156C>A c.14763C>A (p.Phe4921Leu) c.14748C>A (p.Phe4916Leu) c.14745C>A (p.Phe4915Leu) c.14730C>A (p.Phe4910Leu) c.14760C>A (p.Phe4920Leu) c.14676C>A (p.Phe4892Leu) | |
19 | g.38585059C= | CA2335094990 | RYR1 | c.1699C= c.3096C= c.3068C= n.156C= c.14763C= (p.Phe4921=) c.14748C= (p.Phe4916=) c.14745C= (p.Phe4915=) c.14730C= (p.Phe4910=) c.14760C= (p.Phe4920=) c.14676C= (p.Phe4892=) | |
19 | g.38585059C>G | CA405690891 | RYR1 | c.1699C>G c.3096C>G c.3068C>G n.156C>G c.14763C>G (p.Phe4921Leu) c.14748C>G (p.Phe4916Leu) c.14745C>G (p.Phe4915Leu) c.14730C>G (p.Phe4910Leu) c.14760C>G (p.Phe4920Leu) c.14676C>G (p.Phe4892Leu) | ClinVar dbSNP |
19 | g.38585059C>T | CA507246398 | RYR1 | c.1699C>T c.3096C>T c.3068C>T n.156C>T c.14763C>T (p.Phe4921=) c.14748C>T (p.Phe4916=) c.14745C>T (p.Phe4915=) c.14730C>T (p.Phe4910=) c.14760C>T (p.Phe4920=) c.14676C>T (p.Phe4892=) | dbSNP |
19 | g.38585060T>A | CA405690899 | RYR1 | c.1700T>A c.3097T>A c.3069T>A n.157T>A c.14764T>A (p.Phe4922Ile) c.14749T>A (p.Phe4917Ile) c.14746T>A (p.Phe4916Ile) c.14731T>A (p.Phe4911Ile) c.14761T>A (p.Phe4921Ile) c.14677T>A (p.Phe4893Ile) | |
19 | g.38585060T>C | CA405690902 | RYR1 | c.1700T>C c.3097T>C c.3069T>C n.157T>C c.14764T>C (p.Phe4922Leu) c.14749T>C (p.Phe4917Leu) c.14746T>C (p.Phe4916Leu) c.14731T>C (p.Phe4911Leu) c.14761T>C (p.Phe4921Leu) c.14677T>C (p.Phe4893Leu) | |
19 | g.38585060T>G | CA405690906 | RYR1 | c.1700T>G c.3097T>G c.3069T>G n.157T>G c.14764T>G (p.Phe4922Val) c.14749T>G (p.Phe4917Val) c.14746T>G (p.Phe4916Val) c.14731T>G (p.Phe4911Val) c.14761T>G (p.Phe4921Val) c.14677T>G (p.Phe4893Val) | |
19 | g.38585061T>A | CA405690910 | RYR1 | c.1701T>A c.3098T>A c.3070T>A n.158T>A c.14765T>A (p.Phe4922Tyr) c.14750T>A (p.Phe4917Tyr) c.14747T>A (p.Phe4916Tyr) c.14732T>A (p.Phe4911Tyr) c.14762T>A (p.Phe4921Tyr) c.14678T>A (p.Phe4893Tyr) | |
19 | g.38585061T>C | CA405690918 | RYR1 | c.1701T>C c.3098T>C c.3070T>C n.158T>C c.14765T>C (p.Phe4922Ser) c.14750T>C (p.Phe4917Ser) c.14747T>C (p.Phe4916Ser) c.14732T>C (p.Phe4911Ser) c.14762T>C (p.Phe4921Ser) c.14678T>C (p.Phe4893Ser) | |
19 | g.38585061T>G | CA405690919 | RYR1 | c.1701T>G c.3098T>G c.3070T>G n.158T>G c.14765T>G (p.Phe4922Cys) c.14750T>G (p.Phe4917Cys) c.14747T>G (p.Phe4916Cys) c.14732T>G (p.Phe4911Cys) c.14762T>G (p.Phe4921Cys) c.14678T>G (p.Phe4893Cys) | |
19 | g.38585062C>A | CA405690923 | RYR1 | c.1702C>A c.3099C>A c.3071C>A n.159C>A c.14766C>A (p.Phe4922Leu) c.14751C>A (p.Phe4917Leu) c.14748C>A (p.Phe4916Leu) c.14733C>A (p.Phe4911Leu) c.14763C>A (p.Phe4921Leu) c.14679C>A (p.Phe4893Leu) | ClinVar dbSNP |
19 | g.38585062C= | CA2335094991 | RYR1 | c.1702C= c.3099C= c.3071C= n.159C= c.14766C= (p.Phe4922=) c.14751C= (p.Phe4917=) c.14748C= (p.Phe4916=) c.14733C= (p.Phe4911=) c.14763C= (p.Phe4921=) c.14679C= (p.Phe4893=) | |
19 | g.38585062C>G | CA405690927 | RYR1 | c.1702C>G c.3099C>G c.3071C>G n.159C>G c.14766C>G (p.Phe4922Leu) c.14751C>G (p.Phe4917Leu) c.14748C>G (p.Phe4916Leu) c.14733C>G (p.Phe4911Leu) c.14763C>G (p.Phe4921Leu) c.14679C>G (p.Phe4893Leu) | ClinVar dbSNP |
19 | g.38585062C>T | CA507246399 | RYR1 | c.1702C>T c.3099C>T c.3071C>T n.159C>T c.14766C>T (p.Phe4922=) c.14751C>T (p.Phe4917=) c.14748C>T (p.Phe4916=) c.14733C>T (p.Phe4911=) c.14763C>T (p.Phe4921=) c.14679C>T (p.Phe4893=) | |
19 | g.38585063T>A | CA405690928 | RYR1 | c.1703T>A c.3100T>A c.3072T>A n.160T>A c.14767T>A (p.Phe4923Ile) c.14752T>A (p.Phe4918Ile) c.14749T>A (p.Phe4917Ile) c.14734T>A (p.Phe4912Ile) c.14764T>A (p.Phe4922Ile) c.14680T>A (p.Phe4894Ile) | gnomAD v4 |
19 | g.38585063T>C | CA405690929 | RYR1 | c.1703T>C c.3100T>C c.3072T>C n.160T>C c.14767T>C (p.Phe4923Leu) c.14752T>C (p.Phe4918Leu) c.14749T>C (p.Phe4917Leu) c.14734T>C (p.Phe4912Leu) c.14764T>C (p.Phe4922Leu) c.14680T>C (p.Phe4894Leu) | |
19 | g.38585063T>G | CA405690930 | RYR1 | c.1703T>G c.3100T>G c.3072T>G n.160T>G c.14767T>G (p.Phe4923Val) c.14752T>G (p.Phe4918Val) c.14749T>G (p.Phe4917Val) c.14734T>G (p.Phe4912Val) c.14764T>G (p.Phe4922Val) c.14680T>G (p.Phe4894Val) | |
19 | g.38585064del | CA2584911142 | RYR1 | c.1704del c.3101del c.3073del n.161del c.14768del (p.Phe4923SerfsTer14) c.14753del (p.Phe4918SerfsTer14) c.14750del (p.Phe4917SerfsTer14) c.14735del (p.Phe4912SerfsTer14) c.14765del (p.Phe4922SerfsTer14) c.14681del (p.Phe4894SerfsTer14) | gnomAD v4 |
19 | g.38585064T>A | CA405690931 | RYR1 | c.1704T>A c.3101T>A c.3073T>A n.161T>A c.14768T>A (p.Phe4923Tyr) c.14753T>A (p.Phe4918Tyr) c.14750T>A (p.Phe4917Tyr) c.14735T>A (p.Phe4912Tyr) c.14765T>A (p.Phe4922Tyr) c.14681T>A (p.Phe4894Tyr) | |
19 | g.38585064T>C | CA405690932 | RYR1 | c.1704T>C c.3101T>C c.3073T>C n.161T>C c.14768T>C (p.Phe4923Ser) c.14753T>C (p.Phe4918Ser) c.14750T>C (p.Phe4917Ser) c.14735T>C (p.Phe4912Ser) c.14765T>C (p.Phe4922Ser) c.14681T>C (p.Phe4894Ser) | |
19 | g.38585064T>G | CA405690935 | RYR1 | c.1704T>G c.3101T>G c.3073T>G n.161T>G c.14768T>G (p.Phe4923Cys) c.14753T>G (p.Phe4918Cys) c.14750T>G (p.Phe4917Cys) c.14735T>G (p.Phe4912Cys) c.14765T>G (p.Phe4922Cys) c.14681T>G (p.Phe4894Cys) | |
19 | g.38585065C>A | CA405690937 | RYR1 | c.1705C>A c.3102C>A c.3074C>A n.162C>A c.14769C>A (p.Phe4923Leu) c.14754C>A (p.Phe4918Leu) c.14751C>A (p.Phe4917Leu) c.14736C>A (p.Phe4912Leu) c.14766C>A (p.Phe4922Leu) c.14682C>A (p.Phe4894Leu) | |
19 | g.38585065C>G | CA405690942 | RYR1 | c.1705C>G c.3102C>G c.3074C>G n.162C>G c.14769C>G (p.Phe4923Leu) c.14754C>G (p.Phe4918Leu) c.14751C>G (p.Phe4917Leu) c.14736C>G (p.Phe4912Leu) c.14766C>G (p.Phe4922Leu) c.14682C>G (p.Phe4894Leu) | |
19 | g.38585065C>T | CA507246400 | RYR1 | c.1705C>T c.3102C>T c.3074C>T n.162C>T c.14769C>T (p.Phe4923=) c.14754C>T (p.Phe4918=) c.14751C>T (p.Phe4917=) c.14736C>T (p.Phe4912=) c.14766C>T (p.Phe4922=) c.14682C>T (p.Phe4894=) | gnomAD v4 |
19 | g.38585066T>A | CA405690946 | RYR1 | c.1706T>A c.3103T>A c.3075T>A n.163T>A c.14770T>A (p.Phe4924Ile) c.14755T>A (p.Phe4919Ile) c.14752T>A (p.Phe4918Ile) c.14737T>A (p.Phe4913Ile) c.14767T>A (p.Phe4923Ile) c.14683T>A (p.Phe4895Ile) | |
19 | g.38585066T>C | CA405690947 | RYR1 | c.1706T>C c.3103T>C c.3075T>C n.163T>C c.14770T>C (p.Phe4924Leu) c.14755T>C (p.Phe4919Leu) c.14752T>C (p.Phe4918Leu) c.14737T>C (p.Phe4913Leu) c.14767T>C (p.Phe4923Leu) c.14683T>C (p.Phe4895Leu) | |
19 | g.38585066T>G | CA405690948 | RYR1 | c.1706T>G c.3103T>G c.3075T>G n.163T>G c.14770T>G (p.Phe4924Val) c.14755T>G (p.Phe4919Val) c.14752T>G (p.Phe4918Val) c.14737T>G (p.Phe4913Val) c.14767T>G (p.Phe4923Val) c.14683T>G (p.Phe4895Val) | COSMIC |
19 | g.38585066_38585072delinsTTCGTCA | CA2335094992 | RYR1 | c.1706_1712delinsTTCGTCA c.3103_3109delinsTTCGTCA c.3075_3081delinsTTCGTCA n.163_169delinsTTCGTCA c.14770_14776delinsTTCGTCA (p.Phe4924=) c.14755_14761delinsTTCGTCA (p.Phe4919=) c.14752_14758delinsTTCGTCA (p.Phe4918=) c.14737_14743delinsTTCGTCA (p.Phe4913=) c.14767_14773delinsTTCGTCA (p.Phe4923=) c.14683_14689delinsTTCGTCA (p.Phe4895=) | |
19 | g.38585067T>A | CA405690954 | RYR1 | c.1707T>A c.3104T>A c.3076T>A n.164T>A c.14771T>A (p.Phe4924Tyr) c.14756T>A (p.Phe4919Tyr) c.14753T>A (p.Phe4918Tyr) c.14738T>A (p.Phe4913Tyr) c.14768T>A (p.Phe4923Tyr) c.14684T>A (p.Phe4895Tyr) | |
19 | g.38585067T>C | CA405690958 | RYR1 | c.1707T>C c.3104T>C c.3076T>C n.164T>C c.14771T>C (p.Phe4924Ser) c.14756T>C (p.Phe4919Ser) c.14753T>C (p.Phe4918Ser) c.14738T>C (p.Phe4913Ser) c.14768T>C (p.Phe4923Ser) c.14684T>C (p.Phe4895Ser) | |
19 | g.38585067T>G | CA405690963 | RYR1 | c.1707T>G c.3104T>G c.3076T>G n.164T>G c.14771T>G (p.Phe4924Cys) c.14756T>G (p.Phe4919Cys) c.14753T>G (p.Phe4918Cys) c.14738T>G (p.Phe4913Cys) c.14768T>G (p.Phe4923Cys) c.14684T>G (p.Phe4895Cys) | |
19 | g.38585075_38585080del | CA024253 | RYR1 | c.1715_1720del c.3112_3117del c.3084_3089del n.172_177del c.14779_14784del (p.Val4927_Ile4928del) c.14764_14769del (p.Val4922_Ile4923del) c.14761_14766del (p.Val4921_Ile4922del) c.14746_14751del (p.Val4916_Ile4917del) c.14776_14781del (p.Val4926_Ile4927del) c.14692_14697del (p.Val4898_Ile4899del) | ClinVar dbSNP |
19 | g.38585068C>A | CA405690970 | RYR1 | c.1708C>A c.3105C>A c.3077C>A n.165C>A c.14772C>A (p.Phe4924Leu) c.14757C>A (p.Phe4919Leu) c.14754C>A (p.Phe4918Leu) c.14739C>A (p.Phe4913Leu) c.14769C>A (p.Phe4923Leu) c.14685C>A (p.Phe4895Leu) | |
19 | g.38585068C= | CA2335094993 | RYR1 | c.1708C= c.3105C= c.3077C= n.165C= c.14772C= (p.Phe4924=) c.14757C= (p.Phe4919=) c.14754C= (p.Phe4918=) c.14739C= (p.Phe4913=) c.14769C= (p.Phe4923=) c.14685C= (p.Phe4895=) | |
19 | g.38585068C>G | CA405690972 | RYR1 | c.1708C>G c.3105C>G c.3077C>G n.165C>G c.14772C>G (p.Phe4924Leu) c.14757C>G (p.Phe4919Leu) c.14754C>G (p.Phe4918Leu) c.14739C>G (p.Phe4913Leu) c.14769C>G (p.Phe4923Leu) c.14685C>G (p.Phe4895Leu) | |
19 | g.38585068C>T | CA061583 | RYR1 | c.1708C>T c.3105C>T c.3077C>T n.165C>T c.14772C>T (p.Phe4924=) c.14757C>T (p.Phe4919=) c.14754C>T (p.Phe4918=) c.14739C>T (p.Phe4913=) c.14769C>T (p.Phe4923=) c.14685C>T (p.Phe4895=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585069G>A | CA308125606 | RYR1 | c.1709G>A c.3106G>A c.3078G>A n.166G>A c.14773G>A (p.Val4925Ile) c.14758G>A (p.Val4920Ile) c.14755G>A (p.Val4919Ile) c.14740G>A (p.Val4914Ile) c.14770G>A (p.Val4924Ile) c.14686G>A (p.Val4896Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585069G>C | CA405690976 | RYR1 | c.1709G>C c.3106G>C c.3078G>C n.166G>C c.14773G>C (p.Val4925Leu) c.14758G>C (p.Val4920Leu) c.14755G>C (p.Val4919Leu) c.14740G>C (p.Val4914Leu) c.14770G>C (p.Val4924Leu) c.14686G>C (p.Val4896Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585069G= | CA2335094994 | RYR1 | c.1709G= c.3106G= c.3078G= n.166G= c.14773G= (p.Val4925=) c.14758G= (p.Val4920=) c.14755G= (p.Val4919=) c.14740G= (p.Val4914=) c.14770G= (p.Val4924=) c.14686G= (p.Val4896=) | |
19 | g.38585069G>T | CA405690980 | RYR1 | c.1709G>T c.3106G>T c.3078G>T n.166G>T c.14773G>T (p.Val4925Phe) c.14758G>T (p.Val4920Phe) c.14755G>T (p.Val4919Phe) c.14740G>T (p.Val4914Phe) c.14770G>T (p.Val4924Phe) c.14686G>T (p.Val4896Phe) | |
19 | g.38585070T>A | CA405690983 | RYR1 | c.1710T>A c.3107T>A c.3079T>A n.167T>A c.14774T>A (p.Val4925Asp) c.14759T>A (p.Val4920Asp) c.14756T>A (p.Val4919Asp) c.14741T>A (p.Val4914Asp) c.14771T>A (p.Val4924Asp) c.14687T>A (p.Val4896Asp) | |
19 | g.38585070T>C | CA405690981 | RYR1 | c.1710T>C c.3107T>C c.3079T>C n.167T>C c.14774T>C (p.Val4925Ala) c.14759T>C (p.Val4920Ala) c.14756T>C (p.Val4919Ala) c.14741T>C (p.Val4914Ala) c.14771T>C (p.Val4924Ala) c.14687T>C (p.Val4896Ala) | |
19 | g.38585070T>G | CA405690982 | RYR1 | c.1710T>G c.3107T>G c.3079T>G n.167T>G c.14774T>G (p.Val4925Gly) c.14759T>G (p.Val4920Gly) c.14756T>G (p.Val4919Gly) c.14741T>G (p.Val4914Gly) c.14771T>G (p.Val4924Gly) c.14687T>G (p.Val4896Gly) | |
19 | g.38585072_38585074del | CA2695228719 | RYR1 | c.1712_1714del c.3109_3111del c.3081_3083del n.169_171del c.14776_14778del (p.Ile4926del) c.14761_14763del (p.Ile4921del) c.14758_14760del (p.Ile4920del) c.14743_14745del (p.Ile4915del) c.14773_14775del (p.Ile4925del) c.14689_14691del (p.Ile4897del) | ClinVar |
19 | g.38585071C>A | CA507246405 | RYR1 | c.1711C>A c.3108C>A c.3080C>A n.168C>A c.14775C>A (p.Val4925=) c.14760C>A (p.Val4920=) c.14757C>A (p.Val4919=) c.14742C>A (p.Val4914=) c.14772C>A (p.Val4924=) c.14688C>A (p.Val4896=) | |
19 | g.38585071C>G | CA507246407 | RYR1 | c.1711C>G c.3108C>G c.3080C>G n.168C>G c.14775C>G (p.Val4925=) c.14760C>G (p.Val4920=) c.14757C>G (p.Val4919=) c.14742C>G (p.Val4914=) c.14772C>G (p.Val4924=) c.14688C>G (p.Val4896=) | |
19 | g.38585071C>T | CA081312 | RYR1 | c.1711C>T c.3108C>T c.3080C>T n.168C>T c.14775C>T (p.Val4925=) c.14760C>T (p.Val4920=) c.14757C>T (p.Val4919=) c.14742C>T (p.Val4914=) c.14772C>T (p.Val4924=) c.14688C>T (p.Val4896=) | |
19 | g.38585072A= | CA2335094995 | RYR1 | c.1712A= c.3109A= c.3081A= n.169A= c.14776A= (p.Ile4926=) c.14761A= (p.Ile4921=) c.14758A= (p.Ile4920=) c.14743A= (p.Ile4915=) c.14773A= (p.Ile4925=) c.14689A= (p.Ile4897=) | |
19 | g.38585072A>C | CA405690985 | RYR1 | c.1712A>C c.3109A>C c.3081A>C n.169A>C c.14776A>C (p.Ile4926Leu) c.14761A>C (p.Ile4921Leu) c.14758A>C (p.Ile4920Leu) c.14743A>C (p.Ile4915Leu) c.14773A>C (p.Ile4925Leu) c.14689A>C (p.Ile4897Leu) | |
19 | g.38585072A>G | CA061587 | RYR1 | c.1712A>G c.3109A>G c.3081A>G n.169A>G c.14776A>G (p.Ile4926Val) c.14761A>G (p.Ile4921Val) c.14758A>G (p.Ile4920Val) c.14743A>G (p.Ile4915Val) c.14773A>G (p.Ile4925Val) c.14689A>G (p.Ile4897Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585072A>T | CA405690989 | RYR1 | c.1712A>T c.3109A>T c.3081A>T n.169A>T c.14776A>T (p.Ile4926Phe) c.14761A>T (p.Ile4921Phe) c.14758A>T (p.Ile4920Phe) c.14743A>T (p.Ile4915Phe) c.14773A>T (p.Ile4925Phe) c.14689A>T (p.Ile4897Phe) | |
19 | g.38585073T>A | CA405690996 | RYR1 | c.1713T>A c.3110T>A c.3082T>A n.170T>A c.14777T>A (p.Ile4926Asn) c.14762T>A (p.Ile4921Asn) c.14759T>A (p.Ile4920Asn) c.14744T>A (p.Ile4915Asn) c.14774T>A (p.Ile4925Asn) c.14690T>A (p.Ile4897Asn) | |
19 | g.38585073T>C | CA405691003 | RYR1 | c.1713T>C c.3110T>C c.3082T>C n.170T>C c.14777T>C (p.Ile4926Thr) c.14762T>C (p.Ile4921Thr) c.14759T>C (p.Ile4920Thr) c.14744T>C (p.Ile4915Thr) c.14774T>C (p.Ile4925Thr) c.14690T>C (p.Ile4897Thr) | |
19 | g.38585073T>G | CA405691006 | RYR1 | c.1713T>G c.3110T>G c.3082T>G n.170T>G c.14777T>G (p.Ile4926Ser) c.14762T>G (p.Ile4921Ser) c.14759T>G (p.Ile4920Ser) c.14744T>G (p.Ile4915Ser) c.14774T>G (p.Ile4925Ser) c.14690T>G (p.Ile4897Ser) | |
19 | g.38585074C>A | CA507246413 | RYR1 | c.1714C>A c.3111C>A c.3083C>A n.171C>A c.14778C>A (p.Ile4926=) c.14763C>A (p.Ile4921=) c.14760C>A (p.Ile4920=) c.14745C>A (p.Ile4915=) c.14775C>A (p.Ile4925=) c.14691C>A (p.Ile4897=) | |
19 | g.38585074C= | CA2335094996 | RYR1 | c.1714C= c.3111C= c.3083C= n.171C= c.14778C= (p.Ile4926=) c.14763C= (p.Ile4921=) c.14760C= (p.Ile4920=) c.14745C= (p.Ile4915=) c.14775C= (p.Ile4925=) c.14691C= (p.Ile4897=) | |
19 | g.38585074C>G | CA405691010 | RYR1 | c.1714C>G c.3111C>G c.3083C>G n.171C>G c.14778C>G (p.Ile4926Met) c.14763C>G (p.Ile4921Met) c.14760C>G (p.Ile4920Met) c.14745C>G (p.Ile4915Met) c.14775C>G (p.Ile4925Met) c.14691C>G (p.Ile4897Met) | |
19 | g.38585074C>T | CA061589 | RYR1 | c.1714C>T c.3111C>T c.3083C>T n.171C>T c.14778C>T (p.Ile4926=) c.14763C>T (p.Ile4921=) c.14760C>T (p.Ile4920=) c.14745C>T (p.Ile4915=) c.14775C>T (p.Ile4925=) c.14691C>T (p.Ile4897=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585074_38585083delinsCGTCATCCTG | CA2335094997 | RYR1 | c.1714_1723delinsCGTCATCCTG c.3111_3120delinsCGTCATCCTG c.3083_3092delinsCGTCATCCTG n.171_180delinsCGTCATCCTG c.14778_14787delinsCGTCATCCTG (p.Ile4926=) c.14763_14772delinsCGTCATCCTG (p.Ile4921=) c.14760_14769delinsCGTCATCCTG (p.Ile4920=) c.14745_14754delinsCGTCATCCTG (p.Ile4915=) c.14775_14784delinsCGTCATCCTG (p.Ile4925=) c.14691_14700delinsCGTCATCCTG (p.Ile4897=) | |
19 | g.38585075G>A | CA061593 | RYR1 | c.1715G>A c.3112G>A c.3084G>A n.172G>A c.14779G>A (p.Val4927Ile) c.14764G>A (p.Val4922Ile) c.14761G>A (p.Val4921Ile) c.14746G>A (p.Val4916Ile) c.14776G>A (p.Val4926Ile) c.14692G>A (p.Val4898Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585075G>C | CA405691022 | RYR1 | c.1715G>C c.3112G>C c.3084G>C n.172G>C c.14779G>C (p.Val4927Leu) c.14764G>C (p.Val4922Leu) c.14761G>C (p.Val4921Leu) c.14746G>C (p.Val4916Leu) c.14776G>C (p.Val4926Leu) c.14692G>C (p.Val4898Leu) | |
19 | g.38585075G= | CA2335094998 | RYR1 | c.1715G= c.3112G= c.3084G= n.172G= c.14779G= (p.Val4927=) c.14764G= (p.Val4922=) c.14761G= (p.Val4921=) c.14746G= (p.Val4916=) c.14776G= (p.Val4926=) c.14692G= (p.Val4898=) | |
19 | g.38585075G>T | CA024257 | RYR1 | c.1715G>T c.3112G>T c.3084G>T n.172G>T c.14779G>T (p.Val4927Phe) c.14764G>T (p.Val4922Phe) c.14761G>T (p.Val4921Phe) c.14746G>T (p.Val4916Phe) c.14776G>T (p.Val4926Phe) c.14692G>T (p.Val4898Phe) | ClinVar dbSNP |
19 | g.38585075_38585083del | CA308125626 | RYR1 | c.1715_1723del c.3112_3120del c.3084_3092del n.172_180del c.14779_14787del (p.Val4927_Leu4929del) c.14764_14772del (p.Val4922_Leu4924del) c.14761_14769del (p.Val4921_Leu4923del) c.14746_14754del (p.Val4916_Leu4918del) c.14776_14784del (p.Val4926_Leu4928del) c.14692_14700del (p.Val4898_Leu4900del) | dbSNP |
19 | g.38585076T>A | CA405691040 | RYR1 | c.1716T>A c.3113T>A c.3085T>A n.173T>A c.14780T>A (p.Val4927Asp) c.14765T>A (p.Val4922Asp) c.14762T>A (p.Val4921Asp) c.14747T>A (p.Val4916Asp) c.14777T>A (p.Val4926Asp) c.14693T>A (p.Val4898Asp) | |
19 | g.38585076T>C | CA405691045 | RYR1 | c.1716T>C c.3113T>C c.3085T>C n.173T>C c.14780T>C (p.Val4927Ala) c.14765T>C (p.Val4922Ala) c.14762T>C (p.Val4921Ala) c.14747T>C (p.Val4916Ala) c.14777T>C (p.Val4926Ala) c.14693T>C (p.Val4898Ala) | |
19 | g.38585076T>G | CA405691048 | RYR1 | c.1716T>G c.3113T>G c.3085T>G n.173T>G c.14780T>G (p.Val4927Gly) c.14765T>G (p.Val4922Gly) c.14762T>G (p.Val4921Gly) c.14747T>G (p.Val4916Gly) c.14777T>G (p.Val4926Gly) c.14693T>G (p.Val4898Gly) | |
19 | g.38585077C>A | CA507246416 | RYR1 | c.1717C>A c.3114C>A c.3086C>A n.174C>A c.14781C>A (p.Val4927=) c.14766C>A (p.Val4922=) c.14763C>A (p.Val4921=) c.14748C>A (p.Val4916=) c.14778C>A (p.Val4926=) c.14694C>A (p.Val4898=) | gnomAD v4 |
19 | g.38585077C>G | CA507246417 | RYR1 | c.1717C>G c.3114C>G c.3086C>G n.174C>G c.14781C>G (p.Val4927=) c.14766C>G (p.Val4922=) c.14763C>G (p.Val4921=) c.14748C>G (p.Val4916=) c.14778C>G (p.Val4926=) c.14694C>G (p.Val4898=) | |
19 | g.38585077C>T | CA081314 | RYR1 | c.1717C>T c.3114C>T c.3086C>T n.174C>T c.14781C>T (p.Val4927=) c.14766C>T (p.Val4922=) c.14763C>T (p.Val4921=) c.14748C>T (p.Val4916=) c.14778C>T (p.Val4926=) c.14694C>T (p.Val4898=) | |
19 | g.38585078A= | CA2335094999 | RYR1 | c.1718A= c.3115A= c.3087A= n.175A= c.14782A= (p.Ile4928=) c.14767A= (p.Ile4923=) c.14764A= (p.Ile4922=) c.14749A= (p.Ile4917=) c.14779A= (p.Ile4927=) c.14695A= (p.Ile4899=) | |
19 | g.38585078A>C | CA405691054 | RYR1 | c.1718A>C c.3115A>C c.3087A>C n.175A>C c.14782A>C (p.Ile4928Leu) c.14767A>C (p.Ile4923Leu) c.14764A>C (p.Ile4922Leu) c.14749A>C (p.Ile4917Leu) c.14779A>C (p.Ile4927Leu) c.14695A>C (p.Ile4899Leu) | |
19 | g.38585078A>G | CA405691060 | RYR1 | c.1718A>G c.3115A>G c.3087A>G n.175A>G c.14782A>G (p.Ile4928Val) c.14767A>G (p.Ile4923Val) c.14764A>G (p.Ile4922Val) c.14749A>G (p.Ile4917Val) c.14779A>G (p.Ile4927Val) c.14695A>G (p.Ile4899Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585078A>T | CA405691064 | RYR1 | c.1718A>T c.3115A>T c.3087A>T n.175A>T c.14782A>T (p.Ile4928Phe) c.14767A>T (p.Ile4923Phe) c.14764A>T (p.Ile4922Phe) c.14749A>T (p.Ile4917Phe) c.14779A>T (p.Ile4927Phe) c.14695A>T (p.Ile4899Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585079T>A | CA405691071 | RYR1 | c.1719T>A c.3116T>A c.3088T>A n.176T>A c.14783T>A (p.Ile4928Asn) c.14768T>A (p.Ile4923Asn) c.14765T>A (p.Ile4922Asn) c.14750T>A (p.Ile4917Asn) c.14780T>A (p.Ile4927Asn) c.14696T>A (p.Ile4899Asn) | ClinVar |
19 | g.38585079T>C | CA405691086 | RYR1 | c.1719T>C c.3116T>C c.3088T>C n.176T>C c.14783T>C (p.Ile4928Thr) c.14768T>C (p.Ile4923Thr) c.14765T>C (p.Ile4922Thr) c.14750T>C (p.Ile4917Thr) c.14780T>C (p.Ile4927Thr) c.14696T>C (p.Ile4899Thr) | |
19 | g.38585079T>G | CA405691085 | RYR1 | c.1719T>G c.3116T>G c.3088T>G n.176T>G c.14783T>G (p.Ile4928Ser) c.14768T>G (p.Ile4923Ser) c.14765T>G (p.Ile4922Ser) c.14750T>G (p.Ile4917Ser) c.14780T>G (p.Ile4927Ser) c.14696T>G (p.Ile4899Ser) | |
19 | g.38585080C>A | CA507246419 | RYR1 | c.1720C>A c.3117C>A c.3089C>A n.177C>A c.14784C>A (p.Ile4928=) c.14769C>A (p.Ile4923=) c.14766C>A (p.Ile4922=) c.14751C>A (p.Ile4917=) c.14781C>A (p.Ile4927=) c.14697C>A (p.Ile4899=) | |
19 | g.38585080C= | CA2335095000 | RYR1 | c.1720C= c.3117C= c.3089C= n.177C= c.14784C= (p.Ile4928=) c.14769C= (p.Ile4923=) c.14766C= (p.Ile4922=) c.14751C= (p.Ile4917=) c.14781C= (p.Ile4927=) c.14697C= (p.Ile4899=) | |
19 | g.38585080C>G | CA061595 | RYR1 | c.1720C>G c.3117C>G c.3089C>G n.177C>G c.14784C>G (p.Ile4928Met) c.14769C>G (p.Ile4923Met) c.14766C>G (p.Ile4922Met) c.14751C>G (p.Ile4917Met) c.14781C>G (p.Ile4927Met) c.14697C>G (p.Ile4899Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585080C>T | CA507246420 | RYR1 | c.1720C>T c.3117C>T c.3089C>T n.177C>T c.14784C>T (p.Ile4928=) c.14769C>T (p.Ile4923=) c.14766C>T (p.Ile4922=) c.14751C>T (p.Ile4917=) c.14781C>T (p.Ile4927=) c.14697C>T (p.Ile4899=) | gnomAD v4 |
19 | g.38585081C>A | CA405691098 | RYR1 | c.1721C>A c.3118C>A c.3090C>A n.178C>A c.14785C>A (p.Leu4929Met) c.14770C>A (p.Leu4924Met) c.14767C>A (p.Leu4923Met) c.14752C>A (p.Leu4918Met) c.14782C>A (p.Leu4928Met) c.14698C>A (p.Leu4900Met) | |
19 | g.38585081C>G | CA405691101 | RYR1 | c.1721C>G c.3118C>G c.3090C>G n.178C>G c.14785C>G (p.Leu4929Val) c.14770C>G (p.Leu4924Val) c.14767C>G (p.Leu4923Val) c.14752C>G (p.Leu4918Val) c.14782C>G (p.Leu4928Val) c.14698C>G (p.Leu4900Val) | |
19 | g.38585081C>T | CA507246422 | RYR1 | c.1721C>T c.3118C>T c.3090C>T n.178C>T c.14785C>T (p.Leu4929=) c.14770C>T (p.Leu4924=) c.14767C>T (p.Leu4923=) c.14752C>T (p.Leu4918=) c.14782C>T (p.Leu4928=) c.14698C>T (p.Leu4900=) | |
19 | g.38585082T>A | CA405691105 | RYR1 | c.1722T>A c.3119T>A c.3091T>A n.179T>A c.14786T>A (p.Leu4929Gln) c.14771T>A (p.Leu4924Gln) c.14768T>A (p.Leu4923Gln) c.14753T>A (p.Leu4918Gln) c.14783T>A (p.Leu4928Gln) c.14699T>A (p.Leu4900Gln) | |
19 | g.38585082T>C | CA405691110 | RYR1 | c.1722T>C c.3119T>C c.3091T>C n.179T>C c.14786T>C (p.Leu4929Pro) c.14771T>C (p.Leu4924Pro) c.14768T>C (p.Leu4923Pro) c.14753T>C (p.Leu4918Pro) c.14783T>C (p.Leu4928Pro) c.14699T>C (p.Leu4900Pro) | |
19 | g.38585082T>G | CA405691112 | RYR1 | c.1722T>G c.3119T>G c.3091T>G n.179T>G c.14786T>G (p.Leu4929Arg) c.14771T>G (p.Leu4924Arg) c.14768T>G (p.Leu4923Arg) c.14753T>G (p.Leu4918Arg) c.14783T>G (p.Leu4928Arg) c.14699T>G (p.Leu4900Arg) | |
19 | g.38585083G>A | CA507246426 | RYR1 | c.1723G>A c.3120G>A c.3092G>A n.180G>A c.14787G>A (p.Leu4929=) c.14772G>A (p.Leu4924=) c.14769G>A (p.Leu4923=) c.14754G>A (p.Leu4918=) c.14784G>A (p.Leu4928=) c.14700G>A (p.Leu4900=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38585083G>C | CA507246425 | RYR1 | c.1723G>C c.3120G>C c.3092G>C n.180G>C c.14787G>C (p.Leu4929=) c.14772G>C (p.Leu4924=) c.14769G>C (p.Leu4923=) c.14754G>C (p.Leu4918=) c.14784G>C (p.Leu4928=) c.14700G>C (p.Leu4900=) | gnomAD v4 |
19 | g.38585083G= | CA2335095002 | RYR1 | c.1723G= c.3120G= c.3092G= n.180G= c.14787G= (p.Leu4929=) c.14772G= (p.Leu4924=) c.14769G= (p.Leu4923=) c.14754G= (p.Leu4918=) c.14784G= (p.Leu4928=) c.14700G= (p.Leu4900=) | |
19 | g.38585083G>T | CA507246424 | RYR1 | c.1723G>T c.3120G>T c.3092G>T n.180G>T c.14787G>T (p.Leu4929=) c.14772G>T (p.Leu4924=) c.14769G>T (p.Leu4923=) c.14754G>T (p.Leu4918=) c.14784G>T (p.Leu4928=) c.14700G>T (p.Leu4900=) | |
19 | g.38585083_38585084delinsGT | CA2335095001 | RYR1 | c.1723_1724delinsGT c.3120_3121delinsGT c.3092_3093delinsGT n.180_181delinsGT c.14787_14788delinsGT (p.Leu4929=) c.14772_14773delinsGT (p.Leu4924=) c.14769_14770delinsGT (p.Leu4923=) c.14754_14755delinsGT (p.Leu4918=) c.14784_14785delinsGT (p.Leu4928=) c.14700_14701delinsGT (p.Leu4900=) | |
19 | g.38585084T>A | CA405691116 | RYR1 | c.1724T>A c.3121T>A c.3093T>A n.181T>A c.14788T>A (p.Leu4930Met) c.14773T>A (p.Leu4925Met) c.14770T>A (p.Leu4924Met) c.14755T>A (p.Leu4919Met) c.14785T>A (p.Leu4929Met) c.14701T>A (p.Leu4901Met) | |
19 | g.38585084T>C | CA507246428 | RYR1 | c.1724T>C c.3121T>C c.3093T>C n.181T>C c.14788T>C (p.Leu4930=) c.14773T>C (p.Leu4925=) c.14770T>C (p.Leu4924=) c.14755T>C (p.Leu4919=) c.14785T>C (p.Leu4929=) c.14701T>C (p.Leu4901=) | |
19 | g.38585084T>G | CA405691117 | RYR1 | c.1724T>G c.3121T>G c.3093T>G n.181T>G c.14788T>G (p.Leu4930Val) c.14773T>G (p.Leu4925Val) c.14770T>G (p.Leu4924Val) c.14755T>G (p.Leu4919Val) c.14785T>G (p.Leu4929Val) c.14701T>G (p.Leu4901Val) | |
19 | g.38585085del | CA061600 | RYR1 | c.1725del c.3122del c.3094del n.182del c.14789del (p.Leu4930TrpfsTer7) c.14774del (p.Leu4925TrpfsTer7) c.14771del (p.Leu4924TrpfsTer7) c.14756del (p.Leu4919TrpfsTer7) c.14786del (p.Leu4929TrpfsTer7) c.14702del (p.Leu4901TrpfsTer7) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585085T>A | CA405691132 | RYR1 | c.1725T>A c.3122T>A c.3094T>A n.182T>A c.14789T>A (p.Leu4930Ter) c.14774T>A (p.Leu4925Ter) c.14771T>A (p.Leu4924Ter) c.14756T>A (p.Leu4919Ter) c.14786T>A (p.Leu4929Ter) c.14702T>A (p.Leu4901Ter) | |
19 | g.38585085T>C | CA405691130 | RYR1 | c.1725T>C c.3122T>C c.3094T>C n.182T>C c.14789T>C (p.Leu4930Ser) c.14774T>C (p.Leu4925Ser) c.14771T>C (p.Leu4924Ser) c.14756T>C (p.Leu4919Ser) c.14786T>C (p.Leu4929Ser) c.14702T>C (p.Leu4901Ser) | ClinVar |
19 | g.38585085T>G | CA405691127 | RYR1 | c.1725T>G c.3122T>G c.3094T>G n.182T>G c.14789T>G (p.Leu4930Trp) c.14774T>G (p.Leu4925Trp) c.14771T>G (p.Leu4924Trp) c.14756T>G (p.Leu4919Trp) c.14786T>G (p.Leu4929Trp) c.14702T>G (p.Leu4901Trp) | |
19 | g.38585086G>A | CA507246430 | RYR1 | c.1726G>A c.3123G>A c.3095G>A n.183G>A c.14790G>A (p.Leu4930=) c.14775G>A (p.Leu4925=) c.14772G>A (p.Leu4924=) c.14757G>A (p.Leu4919=) c.14787G>A (p.Leu4929=) c.14703G>A (p.Leu4901=) | ClinVar |
19 | g.38585086G>C | CA405691133 | RYR1 | c.1726G>C c.3123G>C c.3095G>C n.183G>C c.14790G>C (p.Leu4930Phe) c.14775G>C (p.Leu4925Phe) c.14772G>C (p.Leu4924Phe) c.14757G>C (p.Leu4919Phe) c.14787G>C (p.Leu4929Phe) c.14703G>C (p.Leu4901Phe) | |
19 | g.38585086G>T | CA405691134 | RYR1 | c.1726G>T c.3123G>T c.3095G>T n.183G>T c.14790G>T (p.Leu4930Phe) c.14775G>T (p.Leu4925Phe) c.14772G>T (p.Leu4924Phe) c.14757G>T (p.Leu4919Phe) c.14787G>T (p.Leu4929Phe) c.14703G>T (p.Leu4901Phe) | |
19 | g.38585087del | CA081317 | RYR1 | c.1727del c.3124del c.3096del n.184del c.14791del (p.Ala4931ProfsTer6) c.14776del (p.Ala4926ProfsTer6) c.14773del (p.Ala4925ProfsTer6) c.14758del (p.Ala4920ProfsTer6) c.14788del (p.Ala4930ProfsTer6) c.14704del (p.Ala4902ProfsTer6) | |
19 | g.38585087G>A | CA405691135 | RYR1 | c.1727G>A c.3124G>A c.3096G>A n.184G>A c.14791G>A (p.Ala4931Thr) c.14776G>A (p.Ala4926Thr) c.14773G>A (p.Ala4925Thr) c.14758G>A (p.Ala4920Thr) c.14788G>A (p.Ala4930Thr) c.14704G>A (p.Ala4902Thr) | |
19 | g.38585087G>C | CA405691137 | RYR1 | c.1727G>C c.3124G>C c.3096G>C n.184G>C c.14791G>C (p.Ala4931Pro) c.14776G>C (p.Ala4926Pro) c.14773G>C (p.Ala4925Pro) c.14758G>C (p.Ala4920Pro) c.14788G>C (p.Ala4930Pro) c.14704G>C (p.Ala4902Pro) | |
19 | g.38585087G>T | CA405691138 | RYR1 | c.1727G>T c.3124G>T c.3096G>T n.184G>T c.14791G>T (p.Ala4931Ser) c.14776G>T (p.Ala4926Ser) c.14773G>T (p.Ala4925Ser) c.14758G>T (p.Ala4920Ser) c.14788G>T (p.Ala4930Ser) c.14704G>T (p.Ala4902Ser) | |
19 | g.38585088C>A | CA405691140 | RYR1 | c.1728C>A c.3125C>A c.3097C>A n.185C>A c.14792C>A (p.Ala4931Asp) c.14777C>A (p.Ala4926Asp) c.14774C>A (p.Ala4925Asp) c.14759C>A (p.Ala4920Asp) c.14789C>A (p.Ala4930Asp) c.14705C>A (p.Ala4902Asp) | ClinVar dbSNP |
19 | g.38585088C= | CA2335095003 | RYR1 | c.1728C= c.3125C= c.3097C= n.185C= c.14792C= (p.Ala4931=) c.14777C= (p.Ala4926=) c.14774C= (p.Ala4925=) c.14759C= (p.Ala4920=) c.14789C= (p.Ala4930=) c.14705C= (p.Ala4902=) | |
19 | g.38585088C>G | CA405691142 | RYR1 | c.1728C>G c.3125C>G c.3097C>G n.185C>G c.14792C>G (p.Ala4931Gly) c.14777C>G (p.Ala4926Gly) c.14774C>G (p.Ala4925Gly) c.14759C>G (p.Ala4920Gly) c.14789C>G (p.Ala4930Gly) c.14705C>G (p.Ala4902Gly) | |
19 | g.38585088C>T | CA061603 | RYR1 | c.1728C>T c.3125C>T c.3097C>T n.185C>T c.14792C>T (p.Ala4931Val) c.14777C>T (p.Ala4926Val) c.14774C>T (p.Ala4925Val) c.14759C>T (p.Ala4920Val) c.14789C>T (p.Ala4930Val) c.14705C>T (p.Ala4902Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38585089C>A | CA507246434 | RYR1 | c.1729C>A c.3126C>A c.3098C>A n.186C>A c.14793C>A (p.Ala4931=) c.14778C>A (p.Ala4926=) c.14775C>A (p.Ala4925=) c.14760C>A (p.Ala4920=) c.14790C>A (p.Ala4930=) c.14706C>A (p.Ala4902=) | |
19 | g.38585089C>G | CA507246436 | RYR1 | c.1729C>G c.3126C>G c.3098C>G n.186C>G c.14793C>G (p.Ala4931=) c.14778C>G (p.Ala4926=) c.14775C>G (p.Ala4925=) c.14760C>G (p.Ala4920=) c.14790C>G (p.Ala4930=) c.14706C>G (p.Ala4902=) | |
19 | g.38585089C>T | CA507246438 | RYR1 | c.1729C>T c.3126C>T c.3098C>T n.186C>T c.14793C>T (p.Ala4931=) c.14778C>T (p.Ala4926=) c.14775C>T (p.Ala4925=) c.14760C>T (p.Ala4920=) c.14790C>T (p.Ala4930=) c.14706C>T (p.Ala4902=) | gnomAD v4 |
19 | g.38585090A>C | CA405691144 | RYR1 | c.1730A>C c.3127A>C c.3099A>C n.187A>C c.14794A>C (p.Ile4932Leu) c.14779A>C (p.Ile4927Leu) c.14776A>C (p.Ile4926Leu) c.14761A>C (p.Ile4921Leu) c.14791A>C (p.Ile4931Leu) c.14707A>C (p.Ile4903Leu) | |
19 | g.38585090A>G | CA405691145 | RYR1 | c.1730A>G c.3127A>G c.3099A>G n.187A>G c.14794A>G (p.Ile4932Val) c.14779A>G (p.Ile4927Val) c.14776A>G (p.Ile4926Val) c.14761A>G (p.Ile4921Val) c.14791A>G (p.Ile4931Val) c.14707A>G (p.Ile4903Val) | |
19 | g.38585090A>T | CA405691146 | RYR1 | c.1730A>T c.3127A>T c.3099A>T n.187A>T c.14794A>T (p.Ile4932Phe) c.14779A>T (p.Ile4927Phe) c.14776A>T (p.Ile4926Phe) c.14761A>T (p.Ile4921Phe) c.14791A>T (p.Ile4931Phe) c.14707A>T (p.Ile4903Phe) | |
19 | g.38585091T>A | CA405691148 | RYR1 | c.1731T>A c.3128T>A c.3100T>A n.188T>A c.14795T>A (p.Ile4932Asn) c.14780T>A (p.Ile4927Asn) c.14777T>A (p.Ile4926Asn) c.14762T>A (p.Ile4921Asn) c.14792T>A (p.Ile4931Asn) c.14708T>A (p.Ile4903Asn) | |
19 | g.38585091T>C | CA405691149 | RYR1 | c.1731T>C c.3128T>C c.3100T>C n.188T>C c.14795T>C (p.Ile4932Thr) c.14780T>C (p.Ile4927Thr) c.14777T>C (p.Ile4926Thr) c.14762T>C (p.Ile4921Thr) c.14792T>C (p.Ile4931Thr) c.14708T>C (p.Ile4903Thr) | |
19 | g.38585091T>G | CA405691152 | RYR1 | c.1731T>G c.3128T>G c.3100T>G n.188T>G c.14795T>G (p.Ile4932Ser) c.14780T>G (p.Ile4927Ser) c.14777T>G (p.Ile4926Ser) c.14762T>G (p.Ile4921Ser) c.14792T>G (p.Ile4931Ser) c.14708T>G (p.Ile4903Ser) | |
19 | g.38585092C>A | CA507246446 | RYR1 | c.1732C>A c.3129C>A c.3101C>A n.189C>A c.14796C>A (p.Ile4932=) c.14781C>A (p.Ile4927=) c.14778C>A (p.Ile4926=) c.14763C>A (p.Ile4921=) c.14793C>A (p.Ile4931=) c.14709C>A (p.Ile4903=) | |
19 | g.38585092C= | CA2335095004 | RYR1 | c.1732C= c.3129C= c.3101C= n.189C= c.14796C= (p.Ile4932=) c.14781C= (p.Ile4927=) c.14778C= (p.Ile4926=) c.14763C= (p.Ile4921=) c.14793C= (p.Ile4931=) c.14709C= (p.Ile4903=) | |
19 | g.38585092C>G | CA405691156 | RYR1 | c.1732C>G c.3129C>G c.3101C>G n.189C>G c.14796C>G (p.Ile4932Met) c.14781C>G (p.Ile4927Met) c.14778C>G (p.Ile4926Met) c.14763C>G (p.Ile4921Met) c.14793C>G (p.Ile4931Met) c.14709C>G (p.Ile4903Met) | |
19 | g.38585092C>T | CA507246449 | RYR1 | c.1732C>T c.3129C>T c.3101C>T n.189C>T c.14796C>T (p.Ile4932=) c.14781C>T (p.Ile4927=) c.14778C>T (p.Ile4926=) c.14763C>T (p.Ile4921=) c.14793C>T (p.Ile4931=) c.14709C>T (p.Ile4903=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38585093A>C | CA405691160 | RYR1 | c.1733A>C c.3130A>C c.3102A>C n.190A>C c.14797A>C (p.Ile4933Leu) c.14782A>C (p.Ile4928Leu) c.14779A>C (p.Ile4927Leu) c.14764A>C (p.Ile4922Leu) c.14794A>C (p.Ile4932Leu) c.14710A>C (p.Ile4904Leu) | |
19 | g.38585093A>G | CA405691173 | RYR1 | c.1733A>G c.3130A>G c.3102A>G n.190A>G c.14797A>G (p.Ile4933Val) c.14782A>G (p.Ile4928Val) c.14779A>G (p.Ile4927Val) c.14764A>G (p.Ile4922Val) c.14794A>G (p.Ile4932Val) c.14710A>G (p.Ile4904Val) | |
19 | g.38585093A>T | CA405691175 | RYR1 | c.1733A>T c.3130A>T c.3102A>T n.190A>T c.14797A>T (p.Ile4933Phe) c.14782A>T (p.Ile4928Phe) c.14779A>T (p.Ile4927Phe) c.14764A>T (p.Ile4922Phe) c.14794A>T (p.Ile4932Phe) c.14710A>T (p.Ile4904Phe) | |
19 | g.38585094T>A | CA405691186 | RYR1 | c.1734T>A c.3131T>A c.3103T>A n.191T>A c.14798T>A (p.Ile4933Asn) c.14783T>A (p.Ile4928Asn) c.14780T>A (p.Ile4927Asn) c.14765T>A (p.Ile4922Asn) c.14795T>A (p.Ile4932Asn) c.14711T>A (p.Ile4904Asn) | |
19 | g.38585094T>C | CA405691187 | RYR1 | c.1734T>C c.3131T>C c.3103T>C n.191T>C c.14798T>C (p.Ile4933Thr) c.14783T>C (p.Ile4928Thr) c.14780T>C (p.Ile4927Thr) c.14765T>C (p.Ile4922Thr) c.14795T>C (p.Ile4932Thr) c.14711T>C (p.Ile4904Thr) | |
19 | g.38585094T>G | CA405691188 | RYR1 | c.1734T>G c.3131T>G c.3103T>G n.191T>G c.14798T>G (p.Ile4933Ser) c.14783T>G (p.Ile4928Ser) c.14780T>G (p.Ile4927Ser) c.14765T>G (p.Ile4922Ser) c.14795T>G (p.Ile4932Ser) c.14711T>G (p.Ile4904Ser) | |
19 | g.38585095C>A | CA507246451 | RYR1 | c.1735C>A c.3132C>A c.3104C>A n.192C>A c.14799C>A (p.Ile4933=) c.14784C>A (p.Ile4928=) c.14781C>A (p.Ile4927=) c.14766C>A (p.Ile4922=) c.14796C>A (p.Ile4932=) c.14712C>A (p.Ile4904=) | |
19 | g.38585095C>G | CA405691189 | RYR1 | c.1735C>G c.3132C>G c.3104C>G n.192C>G c.14799C>G (p.Ile4933Met) c.14784C>G (p.Ile4928Met) c.14781C>G (p.Ile4927Met) c.14766C>G (p.Ile4922Met) c.14796C>G (p.Ile4932Met) c.14712C>G (p.Ile4904Met) | |
19 | g.38585095C>T | CA507246452 | RYR1 | c.1735C>T c.3132C>T c.3104C>T n.192C>T c.14799C>T (p.Ile4933=) c.14784C>T (p.Ile4928=) c.14781C>T (p.Ile4927=) c.14766C>T (p.Ile4922=) c.14796C>T (p.Ile4932=) c.14712C>T (p.Ile4904=) | |
19 | g.38585096C>A | CA405691190 | RYR1 | c.1736C>A c.3133C>A c.3105C>A n.193C>A c.14800C>A (p.Gln4934Lys) c.14785C>A (p.Gln4929Lys) c.14782C>A (p.Gln4928Lys) c.14767C>A (p.Gln4923Lys) c.14797C>A (p.Gln4933Lys) c.14713C>A (p.Gln4905Lys) | |
19 | g.38585096C>G | CA405691191 | RYR1 | c.1736C>G c.3133C>G c.3105C>G n.193C>G c.14800C>G (p.Gln4934Glu) c.14785C>G (p.Gln4929Glu) c.14782C>G (p.Gln4928Glu) c.14767C>G (p.Gln4923Glu) c.14797C>G (p.Gln4933Glu) c.14713C>G (p.Gln4905Glu) | |
19 | g.38585096C>T | CA405691192 | RYR1 | c.1736C>T c.3133C>T c.3105C>T n.193C>T c.14800C>T (p.Gln4934Ter) c.14785C>T (p.Gln4929Ter) c.14782C>T (p.Gln4928Ter) c.14767C>T (p.Gln4923Ter) c.14797C>T (p.Gln4933Ter) c.14713C>T (p.Gln4905Ter) | |
19 | g.38585097A= | CA2335095005 | RYR1 | c.1737A= c.3134A= c.3106A= n.194A= c.14801A= (p.Gln4934=) c.14786A= (p.Gln4929=) c.14783A= (p.Gln4928=) c.14768A= (p.Gln4923=) c.14798A= (p.Gln4933=) c.14714A= (p.Gln4905=) | |
19 | g.38585097A>C | CA405691195 | RYR1 | c.1737A>C c.3134A>C c.3106A>C n.194A>C c.14801A>C (p.Gln4934Pro) c.14786A>C (p.Gln4929Pro) c.14783A>C (p.Gln4928Pro) c.14768A>C (p.Gln4923Pro) c.14798A>C (p.Gln4933Pro) c.14714A>C (p.Gln4905Pro) | |
19 | g.38585097A>G | CA405691198 | RYR1 | c.1737A>G c.3134A>G c.3106A>G n.194A>G c.14801A>G (p.Gln4934Arg) c.14786A>G (p.Gln4929Arg) c.14783A>G (p.Gln4928Arg) c.14768A>G (p.Gln4923Arg) c.14798A>G (p.Gln4933Arg) c.14714A>G (p.Gln4905Arg) | ClinVar dbSNP |
19 | g.38585097A>T | CA405691199 | RYR1 | c.1737A>T c.3134A>T c.3106A>T n.194A>T c.14801A>T (p.Gln4934Leu) c.14786A>T (p.Gln4929Leu) c.14783A>T (p.Gln4928Leu) c.14768A>T (p.Gln4923Leu) c.14798A>T (p.Gln4933Leu) c.14714A>T (p.Gln4905Leu) | ClinVar |
19 | g.38585098G>A | CA507246457 | RYR1 | c.1738G>A c.3135G>A c.3107G>A n.195G>A c.14802G>A (p.Gln4934=) c.14787G>A (p.Gln4929=) c.14784G>A (p.Gln4928=) c.14769G>A (p.Gln4923=) c.14799G>A (p.Gln4933=) c.14715G>A (p.Gln4905=) | |
19 | g.38585098G>C | CA405691200 | RYR1 | c.1738G>C c.3135G>C c.3107G>C n.195G>C c.14802G>C (p.Gln4934His) c.14787G>C (p.Gln4929His) c.14784G>C (p.Gln4928His) c.14769G>C (p.Gln4923His) c.14799G>C (p.Gln4933His) c.14715G>C (p.Gln4905His) | ClinVar dbSNP |
19 | g.38585098G= | CA2335095006 | RYR1 | c.1738G= c.3135G= c.3107G= n.195G= c.14802G= (p.Gln4934=) c.14787G= (p.Gln4929=) c.14784G= (p.Gln4928=) c.14769G= (p.Gln4923=) c.14799G= (p.Gln4933=) c.14715G= (p.Gln4905=) | |
19 | g.38585098G>T | CA405691202 | RYR1 | c.1738G>T c.3135G>T c.3107G>T n.195G>T c.14802G>T (p.Gln4934His) c.14787G>T (p.Gln4929His) c.14784G>T (p.Gln4928His) c.14769G>T (p.Gln4923His) c.14799G>T (p.Gln4933His) c.14715G>T (p.Gln4905His) | |
19 | g.38585099G>A | CA405691206 | RYR1 | c.1739G>A c.3136G>A c.3108G>A n.196G>A c.14803G>A (p.Gly4935Ser) c.14788G>A (p.Gly4930Ser) c.14785G>A (p.Gly4929Ser) c.14770G>A (p.Gly4924Ser) c.14800G>A (p.Gly4934Ser) c.14716G>A (p.Gly4906Ser) | ClinVar dbSNP COSMIC |
19 | g.38585099G>C | CA405691209 | RYR1 | c.1739G>C c.3136G>C c.3108G>C n.196G>C c.14803G>C (p.Gly4935Arg) c.14788G>C (p.Gly4930Arg) c.14785G>C (p.Gly4929Arg) c.14770G>C (p.Gly4924Arg) c.14800G>C (p.Gly4934Arg) c.14716G>C (p.Gly4906Arg) | |
19 | g.38585099G>T | CA405691207 | RYR1 | c.1739G>T c.3136G>T c.3108G>T n.196G>T c.14803G>T (p.Gly4935Cys) c.14788G>T (p.Gly4930Cys) c.14785G>T (p.Gly4929Cys) c.14770G>T (p.Gly4924Cys) c.14800G>T (p.Gly4934Cys) c.14716G>T (p.Gly4906Cys) | |
19 | g.38585100G>A | CA405691213 | RYR1 | c.1739+1G>A c.3136+1G>A c.3108+1G>A n.196+1G>A c.14803+1G>A (n.14803+1G>A) c.14788+1G>A (n.14788+1G>A) c.14785+1G>A (n.14785+1G>A) c.14770+1G>A (n.14770+1G>A) c.14800+1G>A (n.14800+1G>A) c.14716+1G>A (n.14716+1G>A) | gnomAD v4 |
19 | g.38585100G>C | CA405691215 | RYR1 | c.1739+1G>C c.3136+1G>C c.3108+1G>C n.196+1G>C c.14803+1G>C (n.14803+1G>C) c.14788+1G>C (n.14788+1G>C) c.14785+1G>C (n.14785+1G>C) c.14770+1G>C (n.14770+1G>C) c.14800+1G>C (n.14800+1G>C) c.14716+1G>C (n.14716+1G>C) | |
19 | g.38585100G>T | CA405691218 | RYR1 | c.1739+1G>T c.3136+1G>T c.3108+1G>T n.196+1G>T c.14803+1G>T (n.14803+1G>T) c.14788+1G>T (n.14788+1G>T) c.14785+1G>T (n.14785+1G>T) c.14770+1G>T (n.14770+1G>T) c.14800+1G>T (n.14800+1G>T) c.14716+1G>T (n.14716+1G>T) | |
19 | g.38585101T>A | CA405691223 | RYR1 | c.1739+2T>A c.3136+2T>A c.3108+2T>A n.196+2T>A c.14803+2T>A (n.14803+2T>A) c.14788+2T>A (n.14788+2T>A) c.14785+2T>A (n.14785+2T>A) c.14770+2T>A (n.14770+2T>A) c.14800+2T>A (n.14800+2T>A) c.14716+2T>A (n.14716+2T>A) | |
19 | g.38585101T>C | CA405691225 | RYR1 | c.1739+2T>C c.3136+2T>C c.3108+2T>C n.196+2T>C c.14803+2T>C (n.14803+2T>C) c.14788+2T>C (n.14788+2T>C) c.14785+2T>C (n.14785+2T>C) c.14770+2T>C (n.14770+2T>C) c.14800+2T>C (n.14800+2T>C) c.14716+2T>C (n.14716+2T>C) | gnomAD v4 |
19 | g.38585101T>G | CA405691239 | RYR1 | c.1739+2T>G c.3136+2T>G c.3108+2T>G n.196+2T>G c.14803+2T>G (n.14803+2T>G) c.14788+2T>G (n.14788+2T>G) c.14785+2T>G (n.14785+2T>G) c.14770+2T>G (n.14770+2T>G) c.14800+2T>G (n.14800+2T>G) c.14716+2T>G (n.14716+2T>G) | |
19 | g.38585102C>A | CA2584911164 | RYR1 | c.1739+3C>A c.3136+3C>A c.3108+3C>A n.196+3C>A c.14803+3C>A (n.14803+3C>A) c.14788+3C>A (n.14788+3C>A) c.14785+3C>A (n.14785+3C>A) c.14770+3C>A (n.14770+3C>A) c.14800+3C>A (n.14800+3C>A) c.14716+3C>A (n.14716+3C>A) | gnomAD v4 |
19 | g.38585102C= | CA2335095007 | RYR1 | c.1739+3C= c.3136+3C= c.3108+3C= n.196+3C= c.14803+3C= (n.14803+3C=) c.14788+3C= (n.14788+3C=) c.14785+3C= (n.14785+3C=) c.14770+3C= (n.14770+3C=) c.14800+3C= (n.14800+3C=) c.14716+3C= (n.14716+3C=) | |
19 | g.38585102C>T | CA633067003 | RYR1 | c.1739+3C>T c.3136+3C>T c.3108+3C>T n.196+3C>T c.14803+3C>T (n.14803+3C>T) c.14788+3C>T (n.14788+3C>T) c.14785+3C>T (n.14785+3C>T) c.14770+3C>T (n.14770+3C>T) c.14800+3C>T (n.14800+3C>T) c.14716+3C>T (n.14716+3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38585102_38585103insTGATCATCGACGCTTTTGGTGAGCTCCG | CA2736062481 | RYR1 | c.1739+3_1739+4insTGATCATCGACGCTTTTGGTGAGCTCCG c.3136+3_3136+4insTGATCATCGACGCTTTTGGTGAGCTCCG c.3108+3_3108+4insTGATCATCGACGCTTTTGGTGAGCTCCG n.196+3_196+4insTGATCATCGACGCTTTTGGTGAGCTCCG c.14803+3_14803+4insTGATCATCGACGCTTTTGGTGAGCTCCG (n.14803+3_14803+4insTGATCATCGACGCTTTTGGTGAGCTCCG) c.14788+3_14788+4insTGATCATCGACGCTTTTGGTGAGCTCCG (n.14788+3_14788+4insTGATCATCGACGCTTTTGGTGAGCTCCG) c.14785+3_14785+4insTGATCATCGACGCTTTTGGTGAGCTCCG (n.14785+3_14785+4insTGATCATCGACGCTTTTGGTGAGCTCCG) c.14770+3_14770+4insTGATCATCGACGCTTTTGGTGAGCTCCG (n.14770+3_14770+4insTGATCATCGACGCTTTTGGTGAGCTCCG) c.14800+3_14800+4insTGATCATCGACGCTTTTGGTGAGCTCCG (n.14800+3_14800+4insTGATCATCGACGCTTTTGGTGAGCTCCG) c.14716+3_14716+4insTGATCATCGACGCTTTTGGTGAGCTCCG (n.14716+3_14716+4insTGATCATCGACGCTTTTGGTGAGCTCCG) | dbSNP |
19 | g.38585103A= | CA2335095008 | RYR1 | c.1739+4A= c.3136+4A= c.3108+4A= n.196+4A= c.14803+4A= (n.14803+4A=) c.14788+4A= (n.14788+4A=) c.14785+4A= (n.14785+4A=) c.14770+4A= (n.14770+4A=) c.14800+4A= (n.14800+4A=) c.14716+4A= (n.14716+4A=) | |
19 | g.38585103A>C | CA995723150 | RYR1 | c.1739+4A>C c.3136+4A>C c.3108+4A>C n.196+4A>C c.14803+4A>C (n.14803+4A>C) c.14788+4A>C (n.14788+4A>C) c.14785+4A>C (n.14785+4A>C) c.14770+4A>C (n.14770+4A>C) c.14800+4A>C (n.14800+4A>C) c.14716+4A>C (n.14716+4A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38585104G>C | CA915953040 | RYR1 | c.1739+5G>C c.3136+5G>C c.3108+5G>C n.196+5G>C c.14803+5G>C (n.14803+5G>C) c.14788+5G>C (n.14788+5G>C) c.14785+5G>C (n.14785+5G>C) c.14770+5G>C (n.14770+5G>C) c.14800+5G>C (n.14800+5G>C) c.14716+5G>C (n.14716+5G>C) | ClinVar dbSNP |
19 | g.38585104G= | CA2335095009 | RYR1 | c.1739+5G= c.3136+5G= c.3108+5G= n.196+5G= c.14803+5G= (n.14803+5G=) c.14788+5G= (n.14788+5G=) c.14785+5G= (n.14785+5G=) c.14770+5G= (n.14770+5G=) c.14800+5G= (n.14800+5G=) c.14716+5G= (n.14716+5G=) | |
19 | g.38585105T>A | CA2335095011 | RYR1 | c.1739+6T>A c.3136+6T>A c.3108+6T>A n.196+6T>A c.14803+6T>A (n.14803+6T>A) c.14788+6T>A (n.14788+6T>A) c.14785+6T>A (n.14785+6T>A) c.14770+6T>A (n.14770+6T>A) c.14800+6T>A (n.14800+6T>A) c.14716+6T>A (n.14716+6T>A) | dbSNP |
19 | g.38585105T= | CA2335095010 | RYR1 | c.1739+6T= c.3136+6T= c.3108+6T= n.196+6T= c.14803+6T= (n.14803+6T=) c.14788+6T= (n.14788+6T=) c.14785+6T= (n.14785+6T=) c.14770+6T= (n.14770+6T=) c.14800+6T= (n.14800+6T=) c.14716+6T= (n.14716+6T=) | |
19 | g.38585107C= | CA2335095012 | RYR1 | c.1739+8C= c.3136+8C= c.3108+8C= n.196+8C= c.14803+8C= (n.14803+8C=) c.14788+8C= (n.14788+8C=) c.14785+8C= (n.14785+8C=) c.14770+8C= (n.14770+8C=) c.14800+8C= (n.14800+8C=) c.14716+8C= (n.14716+8C=) | |
19 | g.38585107C>T | CA633067004 | RYR1 | c.1739+8C>T c.3136+8C>T c.3108+8C>T n.196+8C>T c.14803+8C>T (n.14803+8C>T) c.14788+8C>T (n.14788+8C>T) c.14785+8C>T (n.14785+8C>T) c.14770+8C>T (n.14770+8C>T) c.14800+8C>T (n.14800+8C>T) c.14716+8C>T (n.14716+8C>T) | dbSNP gnomAD v2 |
19 | g.38585108T>C | CA061646 | RYR1 | c.1739+9T>C c.3136+9T>C c.3108+9T>C n.196+9T>C c.14803+9T>C (n.14803+9T>C) c.14788+9T>C (n.14788+9T>C) c.14785+9T>C (n.14785+9T>C) c.14770+9T>C (n.14770+9T>C) c.14800+9T>C (n.14800+9T>C) c.14716+9T>C (n.14716+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38585108T= | CA2335095013 | RYR1 | c.1739+9T= c.3136+9T= c.3108+9T= n.196+9T= c.14803+9T= (n.14803+9T=) c.14788+9T= (n.14788+9T=) c.14785+9T= (n.14785+9T=) c.14770+9T= (n.14770+9T=) c.14800+9T= (n.14800+9T=) c.14716+9T= (n.14716+9T=) | |
19 | g.38585109G>T | CA2584911168 | RYR1 | c.1739+10G>T c.3136+10G>T c.3108+10G>T n.196+10G>T c.14803+10G>T (n.14803+10G>T) c.14788+10G>T (n.14788+10G>T) c.14785+10G>T (n.14785+10G>T) c.14770+10G>T (n.14770+10G>T) c.14800+10G>T (n.14800+10G>T) c.14716+10G>T (n.14716+10G>T) | gnomAD v4 |
19 | g.38585111del | CA2584911167 | RYR1 | c.1739+12del c.3136+12del c.3108+12del n.196+12del c.14803+12del (n.14803+12del) c.14788+12del (n.14788+12del) c.14785+12del (n.14785+12del) c.14770+12del (n.14770+12del) c.14800+12del (n.14800+12del) c.14716+12del (n.14716+12del) | gnomAD v4 |