| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38565456_38565463delinsGACGGTGA | CA2335084891 | RYR1 | c.58_65delinsGACGGTGA c.1532_1539delinsGACGGTGA c.1514_1521delinsGACGGTGA c.13122_13129delinsGACGGTGA (p.Val4374=) c.13107_13114delinsGACGGTGA (p.Val4369=) c.13104_13111delinsGACGGTGA (p.Val4368=) c.13089_13096delinsGACGGTGA (p.Val4363=) c.13119_13126delinsGACGGTGA (p.Val4373=) | |
| 19 | g.38565457_38565463del | CA2335084892 | RYR1 | c.59_65del c.1533_1539del c.1515_1521del c.13123_13129del (p.Thr4375ProfsTer?) c.13108_13114del (p.Thr4370ProfsTer?) c.13105_13111del (p.Thr4369ProfsTer?) c.13090_13096del (p.Thr4364ProfsTer?) c.13120_13126del (p.Thr4374ProfsTer?) | dbSNP |
| 19 | g.38565460G>A | CA405673579 | RYR1 | c.62G>A c.1536G>A c.1518G>A c.13126G>A (p.Val4376Met) c.13111G>A (p.Val4371Met) c.13108G>A (p.Val4370Met) c.13093G>A (p.Val4365Met) c.13123G>A (p.Val4375Met) | gnomAD v4 |
| 19 | g.38565460G>C | CA405673582 | RYR1 | c.62G>C c.1536G>C c.1518G>C c.13126G>C (p.Val4376Leu) c.13111G>C (p.Val4371Leu) c.13108G>C (p.Val4370Leu) c.13093G>C (p.Val4365Leu) c.13123G>C (p.Val4375Leu) | |
| 19 | g.38565460G= | CA2335084895 | RYR1 | c.62G= c.1536G= c.1518G= c.13126G= (p.Val4376=) c.13111G= (p.Val4371=) c.13108G= (p.Val4370=) c.13093G= (p.Val4365=) c.13123G= (p.Val4375=) | |
| 19 | g.38565460G>T | CA405673585 | RYR1 | c.62G>T c.1536G>T c.1518G>T c.13126G>T (p.Val4376Leu) c.13111G>T (p.Val4371Leu) c.13108G>T (p.Val4370Leu) c.13093G>T (p.Val4365Leu) c.13123G>T (p.Val4375Leu) | dbSNP gnomAD v2 |
| 19 | g.38565460_38565480dup | CA2584909150 | RYR1 | c.62_82dup c.1536_1556dup c.1518_1538dup c.13126_13146dup (p.Gly4382_Met4383insValThrGluLeuLeuAlaGly) c.13111_13131dup (p.Gly4377_Met4378insValThrGluLeuLeuAlaGly) c.13108_13128dup (p.Gly4376_Met4377insValThrGluLeuLeuAlaGly) c.13093_13113dup (p.Gly4371_Met4372insValThrGluLeuLeuAlaGly) c.13123_13143dup (p.Gly4381_Met4382insValThrGluLeuLeuAlaGly) | gnomAD v4 |
| 19 | g.38565461T>A | CA405673587 | RYR1 | c.63T>A c.1537T>A c.1519T>A c.13127T>A (p.Val4376Glu) c.13112T>A (p.Val4371Glu) c.13109T>A (p.Val4370Glu) c.13094T>A (p.Val4365Glu) c.13124T>A (p.Val4375Glu) | |
| 19 | g.38565461T>C | CA405673590 | RYR1 | c.63T>C c.1537T>C c.1519T>C c.13127T>C (p.Val4376Ala) c.13112T>C (p.Val4371Ala) c.13109T>C (p.Val4370Ala) c.13094T>C (p.Val4365Ala) c.13124T>C (p.Val4375Ala) | gnomAD v4 |
| 19 | g.38565461T>G | CA405673592 | RYR1 | c.63T>G c.1537T>G c.1519T>G c.13127T>G (p.Val4376Gly) c.13112T>G (p.Val4371Gly) c.13109T>G (p.Val4370Gly) c.13094T>G (p.Val4365Gly) c.13124T>G (p.Val4375Gly) | |
| 19 | g.38565462G>A | CA10648661 | RYR1 | c.64G>A c.1538G>A c.1520G>A c.13128G>A (p.Val4376=) c.13113G>A (p.Val4371=) c.13110G>A (p.Val4370=) c.13095G>A (p.Val4365=) c.13125G>A (p.Val4375=) | ClinVar dbSNP |
| 19 | g.38565462G>C | CA080786 | RYR1 | c.64G>C c.1538G>C c.1520G>C c.13128G>C (p.Val4376=) c.13113G>C (p.Val4371=) c.13110G>C (p.Val4370=) c.13095G>C (p.Val4365=) c.13125G>C (p.Val4375=) | |
| 19 | g.38565462G= | CA2335084896 | RYR1 | c.64G= c.1538G= c.1520G= c.13128G= (p.Val4376=) c.13113G= (p.Val4371=) c.13110G= (p.Val4370=) c.13095G= (p.Val4365=) c.13125G= (p.Val4375=) | |
| 19 | g.38565462G>T | CA507355682 | RYR1 | c.64G>T c.1538G>T c.1520G>T c.13128G>T (p.Val4376=) c.13113G>T (p.Val4371=) c.13110G>T (p.Val4370=) c.13095G>T (p.Val4365=) c.13125G>T (p.Val4375=) | gnomAD v4 |
| 19 | g.38565463A>C | CA405673597 | RYR1 | c.65A>C c.1539A>C c.1521A>C c.13129A>C (p.Thr4377Pro) c.13114A>C (p.Thr4372Pro) c.13111A>C (p.Thr4371Pro) c.13096A>C (p.Thr4366Pro) c.13126A>C (p.Thr4376Pro) | |
| 19 | g.38565463A>G | CA405673603 | RYR1 | c.65A>G c.1539A>G c.1521A>G c.13129A>G (p.Thr4377Ala) c.13114A>G (p.Thr4372Ala) c.13111A>G (p.Thr4371Ala) c.13096A>G (p.Thr4366Ala) c.13126A>G (p.Thr4376Ala) | gnomAD v4 |
| 19 | g.38565463A>T | CA405673602 | RYR1 | c.65A>T c.1539A>T c.1521A>T c.13129A>T (p.Thr4377Ser) c.13114A>T (p.Thr4372Ser) c.13111A>T (p.Thr4371Ser) c.13096A>T (p.Thr4366Ser) c.13126A>T (p.Thr4376Ser) | |
| 19 | g.38565464C>A | CA405673606 | RYR1 | c.66C>A c.1540C>A c.1522C>A c.13130C>A (p.Thr4377Asn) c.13115C>A (p.Thr4372Asn) c.13112C>A (p.Thr4371Asn) c.13097C>A (p.Thr4366Asn) c.13127C>A (p.Thr4376Asn) | gnomAD v4 |
| 19 | g.38565464C>G | CA405673612 | RYR1 | c.66C>G c.1540C>G c.1522C>G c.13130C>G (p.Thr4377Ser) c.13115C>G (p.Thr4372Ser) c.13112C>G (p.Thr4371Ser) c.13097C>G (p.Thr4366Ser) c.13127C>G (p.Thr4376Ser) | gnomAD v4 |
| 19 | g.38565464C>T | CA405673615 | RYR1 | c.66C>T c.1540C>T c.1522C>T c.13130C>T (p.Thr4377Ile) c.13115C>T (p.Thr4372Ile) c.13112C>T (p.Thr4371Ile) c.13097C>T (p.Thr4366Ile) c.13127C>T (p.Thr4376Ile) | gnomAD v4 |
| 19 | g.38565465C>A | CA507355687 | RYR1 | c.67C>A c.1541C>A c.1523C>A c.13131C>A (p.Thr4377=) c.13116C>A (p.Thr4372=) c.13113C>A (p.Thr4371=) c.13098C>A (p.Thr4366=) c.13128C>A (p.Thr4376=) | gnomAD v4 |
| 19 | g.38565465C= | CA2335084897 | RYR1 | c.67C= c.1541C= c.1523C= c.13131C= (p.Thr4377=) c.13116C= (p.Thr4372=) c.13113C= (p.Thr4371=) c.13098C= (p.Thr4366=) c.13128C= (p.Thr4376=) | |
| 19 | g.38565465C>G | CA507355690 | RYR1 | c.67C>G c.1541C>G c.1523C>G c.13131C>G (p.Thr4377=) c.13116C>G (p.Thr4372=) c.13113C>G (p.Thr4371=) c.13098C>G (p.Thr4366=) c.13128C>G (p.Thr4376=) | dbSNP |
| 19 | g.38565465C>T | CA507355694 | RYR1 | c.67C>T c.1541C>T c.1523C>T c.13131C>T (p.Thr4377=) c.13116C>T (p.Thr4372=) c.13113C>T (p.Thr4371=) c.13098C>T (p.Thr4366=) c.13128C>T (p.Thr4376=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565466G>A | CA405673617 | RYR1 | c.68G>A c.1542G>A c.1524G>A c.13132G>A (p.Glu4378Lys) c.13117G>A (p.Glu4373Lys) c.13114G>A (p.Glu4372Lys) c.13099G>A (p.Glu4367Lys) c.13129G>A (p.Glu4377Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565466G>C | CA405673620 | RYR1 | c.68G>C c.1542G>C c.1524G>C c.13132G>C (p.Glu4378Gln) c.13117G>C (p.Glu4373Gln) c.13114G>C (p.Glu4372Gln) c.13099G>C (p.Glu4367Gln) c.13129G>C (p.Glu4377Gln) | ClinVar |
| 19 | g.38565466G= | CA2335084898 | RYR1 | c.68G= c.1542G= c.1524G= c.13132G= (p.Glu4378=) c.13117G= (p.Glu4373=) c.13114G= (p.Glu4372=) c.13099G= (p.Glu4367=) c.13129G= (p.Glu4377=) | |
| 19 | g.38565466G>T | CA405673627 | RYR1 | c.68G>T c.1542G>T c.1524G>T c.13132G>T (p.Glu4378Ter) c.13117G>T (p.Glu4373Ter) c.13114G>T (p.Glu4372Ter) c.13099G>T (p.Glu4367Ter) c.13129G>T (p.Glu4377Ter) | gnomAD v4 |
| 19 | g.38565467A= | CA2335084899 | RYR1 | c.69A= c.1543A= c.1525A= c.13133A= (p.Glu4378=) c.13118A= (p.Glu4373=) c.13115A= (p.Glu4372=) c.13100A= (p.Glu4367=) c.13130A= (p.Glu4377=) | |
| 19 | g.38565467A>C | CA405673631 | RYR1 | c.69A>C c.1543A>C c.1525A>C c.13133A>C (p.Glu4378Ala) c.13118A>C (p.Glu4373Ala) c.13115A>C (p.Glu4372Ala) c.13100A>C (p.Glu4367Ala) c.13130A>C (p.Glu4377Ala) | |
| 19 | g.38565467A>G | CA405673642 | RYR1 | c.69A>G c.1543A>G c.1525A>G c.13133A>G (p.Glu4378Gly) c.13118A>G (p.Glu4373Gly) c.13115A>G (p.Glu4372Gly) c.13100A>G (p.Glu4367Gly) c.13130A>G (p.Glu4377Gly) | dbSNP gnomAD v4 |
| 19 | g.38565467A>T | CA405673643 | RYR1 | c.69A>T c.1543A>T c.1525A>T c.13133A>T (p.Glu4378Val) c.13118A>T (p.Glu4373Val) c.13115A>T (p.Glu4372Val) c.13100A>T (p.Glu4367Val) c.13130A>T (p.Glu4377Val) | |
| 19 | g.38565468G>A | CA507355700 | RYR1 | c.70G>A c.1544G>A c.1526G>A c.13134G>A (p.Glu4378=) c.13119G>A (p.Glu4373=) c.13116G>A (p.Glu4372=) c.13101G>A (p.Glu4367=) c.13131G>A (p.Glu4377=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565468G>C | CA405673647 | RYR1 | c.70G>C c.1544G>C c.1526G>C c.13134G>C (p.Glu4378Asp) c.13119G>C (p.Glu4373Asp) c.13116G>C (p.Glu4372Asp) c.13101G>C (p.Glu4367Asp) c.13131G>C (p.Glu4377Asp) | |
| 19 | g.38565468G= | CA2335084900 | RYR1 | c.70G= c.1544G= c.1526G= c.13134G= (p.Glu4378=) c.13119G= (p.Glu4373=) c.13116G= (p.Glu4372=) c.13101G= (p.Glu4367=) c.13131G= (p.Glu4377=) | |
| 19 | g.38565468G>T | CA405673649 | RYR1 | c.70G>T c.1544G>T c.1526G>T c.13134G>T (p.Glu4378Asp) c.13119G>T (p.Glu4373Asp) c.13116G>T (p.Glu4372Asp) c.13101G>T (p.Glu4367Asp) c.13131G>T (p.Glu4377Asp) | gnomAD v4 |
| 19 | g.38565469C>A | CA405673655 | RYR1 | c.71C>A c.1545C>A c.1527C>A c.13135C>A (p.Leu4379Ile) c.13120C>A (p.Leu4374Ile) c.13117C>A (p.Leu4373Ile) c.13102C>A (p.Leu4368Ile) c.13132C>A (p.Leu4378Ile) | gnomAD v4 |
| 19 | g.38565469C= | CA2335084901 | RYR1 | c.71C= c.1545C= c.1527C= c.13135C= (p.Leu4379=) c.13120C= (p.Leu4374=) c.13117C= (p.Leu4373=) c.13102C= (p.Leu4368=) c.13132C= (p.Leu4378=) | |
| 19 | g.38565469C>G | CA405673654 | RYR1 | c.71C>G c.1545C>G c.1527C>G c.13135C>G (p.Leu4379Val) c.13120C>G (p.Leu4374Val) c.13117C>G (p.Leu4373Val) c.13102C>G (p.Leu4368Val) c.13132C>G (p.Leu4378Val) | |
| 19 | g.38565469C>T | CA405673652 | RYR1 | c.71C>T c.1545C>T c.1527C>T c.13135C>T (p.Leu4379Phe) c.13120C>T (p.Leu4374Phe) c.13117C>T (p.Leu4373Phe) c.13102C>T (p.Leu4368Phe) c.13132C>T (p.Leu4378Phe) | dbSNP gnomAD v4 |
| 19 | g.38565470T>A | CA405673662 | RYR1 | c.72T>A c.1546T>A c.1528T>A c.13136T>A (p.Leu4379His) c.13121T>A (p.Leu4374His) c.13118T>A (p.Leu4373His) c.13103T>A (p.Leu4368His) c.13133T>A (p.Leu4378His) | |
| 19 | g.38565470T>C | CA405673658 | RYR1 | c.72T>C c.1546T>C c.1528T>C c.13136T>C (p.Leu4379Pro) c.13121T>C (p.Leu4374Pro) c.13118T>C (p.Leu4373Pro) c.13103T>C (p.Leu4368Pro) c.13133T>C (p.Leu4378Pro) | |
| 19 | g.38565470T>G | CA405673660 | RYR1 | c.72T>G c.1546T>G c.1528T>G c.13136T>G (p.Leu4379Arg) c.13121T>G (p.Leu4374Arg) c.13118T>G (p.Leu4373Arg) c.13103T>G (p.Leu4368Arg) c.13133T>G (p.Leu4378Arg) | |
| 19 | g.38565471C>A | CA507355705 | RYR1 | c.73C>A c.1547C>A c.1529C>A c.13137C>A (p.Leu4379=) c.13122C>A (p.Leu4374=) c.13119C>A (p.Leu4373=) c.13104C>A (p.Leu4368=) c.13134C>A (p.Leu4378=) | gnomAD v4 |
| 19 | g.38565471C= | CA2335084902 | RYR1 | c.73C= c.1547C= c.1529C= c.13137C= (p.Leu4379=) c.13122C= (p.Leu4374=) c.13119C= (p.Leu4373=) c.13104C= (p.Leu4368=) c.13134C= (p.Leu4378=) | |
| 19 | g.38565471C>G | CA507355706 | RYR1 | c.73C>G c.1547C>G c.1529C>G c.13137C>G (p.Leu4379=) c.13122C>G (p.Leu4374=) c.13119C>G (p.Leu4373=) c.13104C>G (p.Leu4368=) c.13134C>G (p.Leu4378=) | |
| 19 | g.38565471C>T | CA059594 | RYR1 | c.73C>T c.1547C>T c.1529C>T c.13137C>T (p.Leu4379=) c.13122C>T (p.Leu4374=) c.13119C>T (p.Leu4373=) c.13104C>T (p.Leu4368=) c.13134C>T (p.Leu4378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565472C>A | CA405673669 | RYR1 | c.74C>A c.1548C>A c.1530C>A c.13138C>A (p.Leu4380Met) c.13123C>A (p.Leu4375Met) c.13120C>A (p.Leu4374Met) c.13105C>A (p.Leu4369Met) c.13135C>A (p.Leu4379Met) | gnomAD v4 |
| 19 | g.38565472C= | CA2335084903 | RYR1 | c.74C= c.1548C= c.1530C= c.13138C= (p.Leu4380=) c.13123C= (p.Leu4375=) c.13120C= (p.Leu4374=) c.13105C= (p.Leu4369=) c.13135C= (p.Leu4379=) | |
| 19 | g.38565472C>G | CA405673673 | RYR1 | c.74C>G c.1548C>G c.1530C>G c.13138C>G (p.Leu4380Val) c.13123C>G (p.Leu4375Val) c.13120C>G (p.Leu4374Val) c.13105C>G (p.Leu4369Val) c.13135C>G (p.Leu4379Val) | |
| 19 | g.38565472C>T | CA507355709 | RYR1 | c.74C>T c.1548C>T c.1530C>T c.13138C>T (p.Leu4380=) c.13123C>T (p.Leu4375=) c.13120C>T (p.Leu4374=) c.13105C>T (p.Leu4369=) c.13135C>T (p.Leu4379=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565473del | CA2584909151 | RYR1 | c.75del c.1549del c.1531del c.13139del (p.Leu4380ArgfsTer?) c.13124del (p.Leu4375ArgfsTer?) c.13121del (p.Leu4374ArgfsTer?) c.13106del (p.Leu4369ArgfsTer?) c.13136del (p.Leu4379ArgfsTer?) | gnomAD v4 |
| 19 | g.38565473T>A | CA405673687 | RYR1 | c.75T>A c.1549T>A c.1531T>A c.13139T>A (p.Leu4380Gln) c.13124T>A (p.Leu4375Gln) c.13121T>A (p.Leu4374Gln) c.13106T>A (p.Leu4369Gln) c.13136T>A (p.Leu4379Gln) | gnomAD v4 |
| 19 | g.38565473T>C | CA405673685 | RYR1 | c.75T>C c.1549T>C c.1531T>C c.13139T>C (p.Leu4380Pro) c.13124T>C (p.Leu4375Pro) c.13121T>C (p.Leu4374Pro) c.13106T>C (p.Leu4369Pro) c.13136T>C (p.Leu4379Pro) | gnomAD v4 |
| 19 | g.38565473T>G | CA405673677 | RYR1 | c.75T>G c.1549T>G c.1531T>G c.13139T>G (p.Leu4380Arg) c.13124T>G (p.Leu4375Arg) c.13121T>G (p.Leu4374Arg) c.13106T>G (p.Leu4369Arg) c.13136T>G (p.Leu4379Arg) | |
| 19 | g.38565474G>A | CA507355712 | RYR1 | c.76G>A c.1550G>A c.1532G>A c.13140G>A (p.Leu4380=) c.13125G>A (p.Leu4375=) c.13122G>A (p.Leu4374=) c.13107G>A (p.Leu4369=) c.13137G>A (p.Leu4379=) | gnomAD v4 |
| 19 | g.38565474G>C | CA507355713 | RYR1 | c.76G>C c.1550G>C c.1532G>C c.13140G>C (p.Leu4380=) c.13125G>C (p.Leu4375=) c.13122G>C (p.Leu4374=) c.13107G>C (p.Leu4369=) c.13137G>C (p.Leu4379=) | |
| 19 | g.38565474G>T | CA507355714 | RYR1 | c.76G>T c.1550G>T c.1532G>T c.13140G>T (p.Leu4380=) c.13125G>T (p.Leu4375=) c.13122G>T (p.Leu4374=) c.13107G>T (p.Leu4369=) c.13137G>T (p.Leu4379=) | gnomAD v4 |
| 19 | g.38565475G>A | CA405673690 | RYR1 | c.77G>A c.1551G>A c.1533G>A c.13141G>A (p.Ala4381Thr) c.13126G>A (p.Ala4376Thr) c.13123G>A (p.Ala4375Thr) c.13108G>A (p.Ala4370Thr) c.13138G>A (p.Ala4380Thr) | gnomAD v4 |
| 19 | g.38565475G>C | CA405673694 | RYR1 | c.77G>C c.1551G>C c.1533G>C c.13141G>C (p.Ala4381Pro) c.13126G>C (p.Ala4376Pro) c.13123G>C (p.Ala4375Pro) c.13108G>C (p.Ala4370Pro) c.13138G>C (p.Ala4380Pro) | |
| 19 | g.38565475G>T | CA405673695 | RYR1 | c.77G>T c.1551G>T c.1533G>T c.13141G>T (p.Ala4381Ser) c.13126G>T (p.Ala4376Ser) c.13123G>T (p.Ala4375Ser) c.13108G>T (p.Ala4370Ser) c.13138G>T (p.Ala4380Ser) | gnomAD v4 |
| 19 | g.38565476C>A | CA405673696 | RYR1 | c.78C>A c.1552C>A c.1534C>A c.13142C>A (p.Ala4381Glu) c.13127C>A (p.Ala4376Glu) c.13124C>A (p.Ala4375Glu) c.13109C>A (p.Ala4370Glu) c.13139C>A (p.Ala4380Glu) | dbSNP gnomAD v4 |
| 19 | g.38565476C= | CA2335084904 | RYR1 | c.78C= c.1552C= c.1534C= c.13142C= (p.Ala4381=) c.13127C= (p.Ala4376=) c.13124C= (p.Ala4375=) c.13109C= (p.Ala4370=) c.13139C= (p.Ala4380=) | |
| 19 | g.38565476C>G | CA024035 | RYR1 | c.78C>G c.1552C>G c.1534C>G c.13142C>G (p.Ala4381Gly) c.13127C>G (p.Ala4376Gly) c.13124C>G (p.Ala4375Gly) c.13109C>G (p.Ala4370Gly) c.13139C>G (p.Ala4380Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565476C>T | CA405673697 | RYR1 | c.78C>T c.1552C>T c.1534C>T c.13142C>T (p.Ala4381Val) c.13127C>T (p.Ala4376Val) c.13124C>T (p.Ala4375Val) c.13109C>T (p.Ala4370Val) c.13139C>T (p.Ala4380Val) | gnomAD v4 |
| 19 | g.38565477A>C | CA507355717 | RYR1 | c.79A>C c.1553A>C c.1535A>C c.13143A>C (p.Ala4381=) c.13128A>C (p.Ala4376=) c.13125A>C (p.Ala4375=) c.13110A>C (p.Ala4370=) c.13140A>C (p.Ala4380=) | |
| 19 | g.38565477A>G | CA507355718 | RYR1 | c.79A>G c.1553A>G c.1535A>G c.13143A>G (p.Ala4381=) c.13128A>G (p.Ala4376=) c.13125A>G (p.Ala4375=) c.13110A>G (p.Ala4370=) c.13140A>G (p.Ala4380=) | gnomAD v4 |
| 19 | g.38565477A>T | CA507355719 | RYR1 | c.79A>T c.1553A>T c.1535A>T c.13143A>T (p.Ala4381=) c.13128A>T (p.Ala4376=) c.13125A>T (p.Ala4375=) c.13110A>T (p.Ala4370=) c.13140A>T (p.Ala4380=) | |
| 19 | g.38565478G>A | CA405673699 | RYR1 | c.80G>A c.1554G>A c.1536G>A c.13144G>A (p.Gly4382Ser) c.13129G>A (p.Gly4377Ser) c.13126G>A (p.Gly4376Ser) c.13111G>A (p.Gly4371Ser) c.13141G>A (p.Gly4381Ser) | dbSNP gnomAD v4 |
| 19 | g.38565478G>C | CA405673704 | RYR1 | c.80G>C c.1554G>C c.1536G>C c.13144G>C (p.Gly4382Arg) c.13129G>C (p.Gly4377Arg) c.13126G>C (p.Gly4376Arg) c.13111G>C (p.Gly4371Arg) c.13141G>C (p.Gly4381Arg) | |
| 19 | g.38565478G= | CA2335084905 | RYR1 | c.80G= c.1554G= c.1536G= c.13144G= (p.Gly4382=) c.13129G= (p.Gly4377=) c.13126G= (p.Gly4376=) c.13111G= (p.Gly4371=) c.13141G= (p.Gly4381=) | |
| 19 | g.38565478G>T | CA405673702 | RYR1 | c.80G>T c.1554G>T c.1536G>T c.13144G>T (p.Gly4382Cys) c.13129G>T (p.Gly4377Cys) c.13126G>T (p.Gly4376Cys) c.13111G>T (p.Gly4371Cys) c.13141G>T (p.Gly4381Cys) | gnomAD v4 |
| 19 | g.38565479G>A | CA405673710 | RYR1 | c.81G>A c.1555G>A c.1537G>A c.13145G>A (p.Gly4382Asp) c.13130G>A (p.Gly4377Asp) c.13127G>A (p.Gly4376Asp) c.13112G>A (p.Gly4371Asp) c.13142G>A (p.Gly4381Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565479G>C | CA405673714 | RYR1 | c.81G>C c.1555G>C c.1537G>C c.13145G>C (p.Gly4382Ala) c.13130G>C (p.Gly4377Ala) c.13127G>C (p.Gly4376Ala) c.13112G>C (p.Gly4371Ala) c.13142G>C (p.Gly4381Ala) | |
| 19 | g.38565479G= | CA2335084906 | RYR1 | c.81G= c.1555G= c.1537G= c.13145G= (p.Gly4382=) c.13130G= (p.Gly4377=) c.13127G= (p.Gly4376=) c.13112G= (p.Gly4371=) c.13142G= (p.Gly4381=) | |
| 19 | g.38565479G>T | CA405673716 | RYR1 | c.81G>T c.1555G>T c.1537G>T c.13145G>T (p.Gly4382Val) c.13130G>T (p.Gly4377Val) c.13127G>T (p.Gly4376Val) c.13112G>T (p.Gly4371Val) c.13142G>T (p.Gly4381Val) | gnomAD v4 |
| 19 | g.38565480C>A | CA507355723 | RYR1 | c.82C>A c.1556C>A c.1538C>A c.13146C>A (p.Gly4382=) c.13131C>A (p.Gly4377=) c.13128C>A (p.Gly4376=) c.13113C>A (p.Gly4371=) c.13143C>A (p.Gly4381=) | gnomAD v4 |
| 19 | g.38565480C= | CA2335084907 | RYR1 | c.82C= c.1556C= c.1538C= c.13146C= (p.Gly4382=) c.13131C= (p.Gly4377=) c.13128C= (p.Gly4376=) c.13113C= (p.Gly4371=) c.13143C= (p.Gly4381=) | |
| 19 | g.38565480C>G | CA507355724 | RYR1 | c.82C>G c.1556C>G c.1538C>G c.13146C>G (p.Gly4382=) c.13131C>G (p.Gly4377=) c.13128C>G (p.Gly4376=) c.13113C>G (p.Gly4371=) c.13143C>G (p.Gly4381=) | dbSNP |
| 19 | g.38565480C>T | CA507355725 | RYR1 | c.82C>T c.1556C>T c.1538C>T c.13146C>T (p.Gly4382=) c.13131C>T (p.Gly4377=) c.13128C>T (p.Gly4376=) c.13113C>T (p.Gly4371=) c.13143C>T (p.Gly4381=) | gnomAD v4 |
| 19 | g.38565481A>C | CA405673718 | RYR1 | c.83A>C c.1557A>C c.1539A>C c.13147A>C (p.Met4383Leu) c.13132A>C (p.Met4378Leu) c.13129A>C (p.Met4377Leu) c.13114A>C (p.Met4372Leu) c.13144A>C (p.Met4382Leu) | |
| 19 | g.38565481A>G | CA405673719 | RYR1 | c.83A>G c.1557A>G c.1539A>G c.13147A>G (p.Met4383Val) c.13132A>G (p.Met4378Val) c.13129A>G (p.Met4377Val) c.13114A>G (p.Met4372Val) c.13144A>G (p.Met4382Val) | gnomAD v4 |
| 19 | g.38565481A>T | CA405673720 | RYR1 | c.83A>T c.1557A>T c.1539A>T c.13147A>T (p.Met4383Leu) c.13132A>T (p.Met4378Leu) c.13129A>T (p.Met4377Leu) c.13114A>T (p.Met4372Leu) c.13144A>T (p.Met4382Leu) | |
| 19 | g.38565482T>A | CA405673721 | RYR1 | c.84T>A c.1558T>A c.1540T>A c.13148T>A (p.Met4383Lys) c.13133T>A (p.Met4378Lys) c.13130T>A (p.Met4377Lys) c.13115T>A (p.Met4372Lys) c.13145T>A (p.Met4382Lys) | |
| 19 | g.38565482T>C | CA405673722 | RYR1 | c.84T>C c.1558T>C c.1540T>C c.13148T>C (p.Met4383Thr) c.13133T>C (p.Met4378Thr) c.13130T>C (p.Met4377Thr) c.13115T>C (p.Met4372Thr) c.13145T>C (p.Met4382Thr) | gnomAD v4 |
| 19 | g.38565482T>G | CA405673723 | RYR1 | c.84T>G c.1558T>G c.1540T>G c.13148T>G (p.Met4383Arg) c.13133T>G (p.Met4378Arg) c.13130T>G (p.Met4377Arg) c.13115T>G (p.Met4372Arg) c.13145T>G (p.Met4382Arg) | |
| 19 | g.38565483G>A | CA405673725 | RYR1 | c.85G>A c.1559G>A c.1541G>A c.13149G>A (p.Met4383Ile) c.13134G>A (p.Met4378Ile) c.13131G>A (p.Met4377Ile) c.13116G>A (p.Met4372Ile) c.13146G>A (p.Met4382Ile) | gnomAD v4 |
| 19 | g.38565483G>C | CA405673726 | RYR1 | c.85G>C c.1559G>C c.1541G>C c.13149G>C (p.Met4383Ile) c.13134G>C (p.Met4378Ile) c.13131G>C (p.Met4377Ile) c.13116G>C (p.Met4372Ile) c.13146G>C (p.Met4382Ile) | |
| 19 | g.38565483G>T | CA405673731 | RYR1 | c.85G>T c.1559G>T c.1541G>T c.13149G>T (p.Met4383Ile) c.13134G>T (p.Met4378Ile) c.13131G>T (p.Met4377Ile) c.13116G>T (p.Met4372Ile) c.13146G>T (p.Met4382Ile) | gnomAD v4 |
| 19 | g.38565484C>A | CA405673735 | RYR1 | c.86C>A c.1560C>A c.1542C>A c.13150C>A (p.Pro4384Thr) c.13135C>A (p.Pro4379Thr) c.13132C>A (p.Pro4378Thr) c.13117C>A (p.Pro4373Thr) c.13147C>A (p.Pro4383Thr) | gnomAD v4 |
| 19 | g.38565484C>G | CA405673737 | RYR1 | c.86C>G c.1560C>G c.1542C>G c.13150C>G (p.Pro4384Ala) c.13135C>G (p.Pro4379Ala) c.13132C>G (p.Pro4378Ala) c.13117C>G (p.Pro4373Ala) c.13147C>G (p.Pro4383Ala) | |
| 19 | g.38565484C>T | CA405673734 | RYR1 | c.86C>T c.1560C>T c.1542C>T c.13150C>T (p.Pro4384Ser) c.13135C>T (p.Pro4379Ser) c.13132C>T (p.Pro4378Ser) c.13117C>T (p.Pro4373Ser) c.13147C>T (p.Pro4383Ser) | gnomAD v4 |
| 19 | g.38565486del | CA2584909152 | RYR1 | c.88del c.1562del c.1544del c.13152del (p.Asp4385ThrfsTer?) c.13137del (p.Asp4380ThrfsTer?) c.13134del (p.Asp4379ThrfsTer?) c.13119del (p.Asp4374ThrfsTer?) c.13149del (p.Asp4384ThrfsTer?) | gnomAD v4 |
| 19 | g.38565485C>A | CA405673740 | RYR1 | c.87C>A c.1561C>A c.1543C>A c.13151C>A (p.Pro4384His) c.13136C>A (p.Pro4379His) c.13133C>A (p.Pro4378His) c.13118C>A (p.Pro4373His) c.13148C>A (p.Pro4383His) | gnomAD v4 |
| 19 | g.38565485C>G | CA405673745 | RYR1 | c.87C>G c.1561C>G c.1543C>G c.13151C>G (p.Pro4384Arg) c.13136C>G (p.Pro4379Arg) c.13133C>G (p.Pro4378Arg) c.13118C>G (p.Pro4373Arg) c.13148C>G (p.Pro4383Arg) | |
| 19 | g.38565485C>T | CA405673743 | RYR1 | c.87C>T c.1561C>T c.1543C>T c.13151C>T (p.Pro4384Leu) c.13136C>T (p.Pro4379Leu) c.13133C>T (p.Pro4378Leu) c.13118C>T (p.Pro4373Leu) c.13148C>T (p.Pro4383Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565486C>A | CA507355734 | RYR1 | c.88C>A c.1562C>A c.1544C>A c.13152C>A (p.Pro4384=) c.13137C>A (p.Pro4379=) c.13134C>A (p.Pro4378=) c.13119C>A (p.Pro4373=) c.13149C>A (p.Pro4383=) | gnomAD v4 |
| 19 | g.38565486C= | CA2335084908 | RYR1 | c.88C= c.1562C= c.1544C= c.13152C= (p.Pro4384=) c.13137C= (p.Pro4379=) c.13134C= (p.Pro4378=) c.13119C= (p.Pro4373=) c.13149C= (p.Pro4383=) | |
| 19 | g.38565486C>G | CA308109508 | RYR1 | c.88C>G c.1562C>G c.1544C>G c.13152C>G (p.Pro4384=) c.13137C>G (p.Pro4379=) c.13134C>G (p.Pro4378=) c.13119C>G (p.Pro4373=) c.13149C>G (p.Pro4383=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565486C>T | CA059604 | RYR1 | c.88C>T c.1562C>T c.1544C>T c.13152C>T (p.Pro4384=) c.13137C>T (p.Pro4379=) c.13134C>T (p.Pro4378=) c.13119C>T (p.Pro4373=) c.13149C>T (p.Pro4383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565487G>A | CA405673753 | RYR1 | c.89G>A c.1563G>A c.1545G>A c.13153G>A (p.Asp4385Asn) c.13138G>A (p.Asp4380Asn) c.13135G>A (p.Asp4379Asn) c.13120G>A (p.Asp4374Asn) c.13150G>A (p.Asp4384Asn) | gnomAD v4 |
| 19 | g.38565487G>C | CA405673755 | RYR1 | c.89G>C c.1563G>C c.1545G>C c.13153G>C (p.Asp4385His) c.13138G>C (p.Asp4380His) c.13135G>C (p.Asp4379His) c.13120G>C (p.Asp4374His) c.13150G>C (p.Asp4384His) | gnomAD v4 |
| 19 | g.38565487G= | CA2335084909 | RYR1 | c.89G= c.1563G= c.1545G= c.13153G= (p.Asp4385=) c.13138G= (p.Asp4380=) c.13135G= (p.Asp4379=) c.13120G= (p.Asp4374=) c.13150G= (p.Asp4384=) | |
| 19 | g.38565487G>T | CA405673760 | RYR1 | c.89G>T c.1563G>T c.1545G>T c.13153G>T (p.Asp4385Tyr) c.13138G>T (p.Asp4380Tyr) c.13135G>T (p.Asp4379Tyr) c.13120G>T (p.Asp4374Tyr) c.13150G>T (p.Asp4384Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565488A>C | CA405673762 | RYR1 | c.90A>C c.1564A>C c.1546A>C c.13154A>C (p.Asp4385Ala) c.13139A>C (p.Asp4380Ala) c.13136A>C (p.Asp4379Ala) c.13121A>C (p.Asp4374Ala) c.13151A>C (p.Asp4384Ala) | |
| 19 | g.38565488A>G | CA405673768 | RYR1 | c.90A>G c.1564A>G c.1546A>G c.13154A>G (p.Asp4385Gly) c.13139A>G (p.Asp4380Gly) c.13136A>G (p.Asp4379Gly) c.13121A>G (p.Asp4374Gly) c.13151A>G (p.Asp4384Gly) | gnomAD v4 |
| 19 | g.38565488A>T | CA405673770 | RYR1 | c.90A>T c.1564A>T c.1546A>T c.13154A>T (p.Asp4385Val) c.13139A>T (p.Asp4380Val) c.13136A>T (p.Asp4379Val) c.13121A>T (p.Asp4374Val) c.13151A>T (p.Asp4384Val) | |
| 19 | g.38565489C>A | CA405673777 | RYR1 | c.91C>A c.1565C>A c.1547C>A c.13155C>A (p.Asp4385Glu) c.13140C>A (p.Asp4380Glu) c.13137C>A (p.Asp4379Glu) c.13122C>A (p.Asp4374Glu) c.13152C>A (p.Asp4384Glu) | gnomAD v4 |
| 19 | g.38565489C>G | CA405673780 | RYR1 | c.91C>G c.1565C>G c.1547C>G c.13155C>G (p.Asp4385Glu) c.13140C>G (p.Asp4380Glu) c.13137C>G (p.Asp4379Glu) c.13122C>G (p.Asp4374Glu) c.13152C>G (p.Asp4384Glu) | |
| 19 | g.38565489C>T | CA080795 | RYR1 | c.91C>T c.1565C>T c.1547C>T c.13155C>T (p.Asp4385=) c.13140C>T (p.Asp4380=) c.13137C>T (p.Asp4379=) c.13122C>T (p.Asp4374=) c.13152C>T (p.Asp4384=) | gnomAD v4 |
| 19 | g.38565492del | CA2584909153 | RYR1 | c.94del c.1568del c.1550del c.13158del (p.Thr4387ProfsTer?) c.13143del (p.Thr4382ProfsTer?) c.13140del (p.Thr4381ProfsTer?) c.13125del (p.Thr4376ProfsTer?) c.13155del (p.Thr4386ProfsTer?) | gnomAD v4 |
| 19 | g.38565490C>A | CA405673800 | RYR1 | c.92C>A c.1566C>A c.1548C>A c.13156C>A (p.Pro4386Thr) c.13141C>A (p.Pro4381Thr) c.13138C>A (p.Pro4380Thr) c.13123C>A (p.Pro4375Thr) c.13153C>A (p.Pro4385Thr) | gnomAD v4 |
| 19 | g.38565490C= | CA2335084910 | RYR1 | c.92C= c.1566C= c.1548C= c.13156C= (p.Pro4386=) c.13141C= (p.Pro4381=) c.13138C= (p.Pro4380=) c.13123C= (p.Pro4375=) c.13153C= (p.Pro4385=) | |
| 19 | g.38565490C>G | CA405673796 | RYR1 | c.92C>G c.1566C>G c.1548C>G c.13156C>G (p.Pro4386Ala) c.13141C>G (p.Pro4381Ala) c.13138C>G (p.Pro4380Ala) c.13123C>G (p.Pro4375Ala) c.13153C>G (p.Pro4385Ala) | |
| 19 | g.38565490C>T | CA405673783 | RYR1 | c.92C>T c.1566C>T c.1548C>T c.13156C>T (p.Pro4386Ser) c.13141C>T (p.Pro4381Ser) c.13138C>T (p.Pro4380Ser) c.13123C>T (p.Pro4375Ser) c.13153C>T (p.Pro4385Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565491C>A | CA405673803 | RYR1 | c.93C>A c.1567C>A c.1549C>A c.13157C>A (p.Pro4386His) c.13142C>A (p.Pro4381His) c.13139C>A (p.Pro4380His) c.13124C>A (p.Pro4375His) c.13154C>A (p.Pro4385His) | gnomAD v4 |
| 19 | g.38565491C>G | CA405673806 | RYR1 | c.93C>G c.1567C>G c.1549C>G c.13157C>G (p.Pro4386Arg) c.13142C>G (p.Pro4381Arg) c.13139C>G (p.Pro4380Arg) c.13124C>G (p.Pro4375Arg) c.13154C>G (p.Pro4385Arg) | gnomAD v4 |
| 19 | g.38565491C>T | CA405673807 | RYR1 | c.93C>T c.1567C>T c.1549C>T c.13157C>T (p.Pro4386Leu) c.13142C>T (p.Pro4381Leu) c.13139C>T (p.Pro4380Leu) c.13124C>T (p.Pro4375Leu) c.13154C>T (p.Pro4385Leu) | gnomAD v4 |
| 19 | g.38565492C>A | CA507355736 | RYR1 | c.94C>A c.1568C>A c.1550C>A c.13158C>A (p.Pro4386=) c.13143C>A (p.Pro4381=) c.13140C>A (p.Pro4380=) c.13125C>A (p.Pro4375=) c.13155C>A (p.Pro4385=) | gnomAD v4 |
| 19 | g.38565492C>G | CA507355737 | RYR1 | c.94C>G c.1568C>G c.1550C>G c.13158C>G (p.Pro4386=) c.13143C>G (p.Pro4381=) c.13140C>G (p.Pro4380=) c.13125C>G (p.Pro4375=) c.13155C>G (p.Pro4385=) | gnomAD v4 |
| 19 | g.38565492C>T | CA507355738 | RYR1 | c.94C>T c.1568C>T c.1550C>T c.13158C>T (p.Pro4386=) c.13143C>T (p.Pro4381=) c.13140C>T (p.Pro4380=) c.13125C>T (p.Pro4375=) c.13155C>T (p.Pro4385=) | ClinVar gnomAD v4 |
| 19 | g.38565493A>C | CA405673808 | RYR1 | c.95A>C c.1569A>C c.1551A>C c.13159A>C (p.Thr4387Pro) c.13144A>C (p.Thr4382Pro) c.13141A>C (p.Thr4381Pro) c.13126A>C (p.Thr4376Pro) c.13156A>C (p.Thr4386Pro) | gnomAD v4 |
| 19 | g.38565493A>G | CA405673809 | RYR1 | c.95A>G c.1569A>G c.1551A>G c.13159A>G (p.Thr4387Ala) c.13144A>G (p.Thr4382Ala) c.13141A>G (p.Thr4381Ala) c.13126A>G (p.Thr4376Ala) c.13156A>G (p.Thr4386Ala) | gnomAD v4 |
| 19 | g.38565493A>T | CA405673810 | RYR1 | c.95A>T c.1569A>T c.1551A>T c.13159A>T (p.Thr4387Ser) c.13144A>T (p.Thr4382Ser) c.13141A>T (p.Thr4381Ser) c.13126A>T (p.Thr4376Ser) c.13156A>T (p.Thr4386Ser) | gnomAD v4 |
| 19 | g.38565494C>A | CA405673811 | RYR1 | c.96C>A c.1570C>A c.1552C>A c.13160C>A (p.Thr4387Asn) c.13145C>A (p.Thr4382Asn) c.13142C>A (p.Thr4381Asn) c.13127C>A (p.Thr4376Asn) c.13157C>A (p.Thr4386Asn) | gnomAD v4 |
| 19 | g.38565494C= | CA2335084911 | RYR1 | c.96C= c.1570C= c.1552C= c.13160C= (p.Thr4387=) c.13145C= (p.Thr4382=) c.13142C= (p.Thr4381=) c.13127C= (p.Thr4376=) c.13157C= (p.Thr4386=) | |
| 19 | g.38565494C>G | CA405673813 | RYR1 | c.96C>G c.1570C>G c.1552C>G c.13160C>G (p.Thr4387Ser) c.13145C>G (p.Thr4382Ser) c.13142C>G (p.Thr4381Ser) c.13127C>G (p.Thr4376Ser) c.13157C>G (p.Thr4386Ser) | gnomAD v4 |
| 19 | g.38565494C>T | CA405673815 | RYR1 | c.96C>T c.1570C>T c.1552C>T c.13160C>T (p.Thr4387Ile) c.13145C>T (p.Thr4382Ile) c.13142C>T (p.Thr4381Ile) c.13127C>T (p.Thr4376Ile) c.13157C>T (p.Thr4386Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565495C>A | CA507355741 | RYR1 | c.97C>A c.1571C>A c.1553C>A c.13161C>A (p.Thr4387=) c.13146C>A (p.Thr4382=) c.13143C>A (p.Thr4381=) c.13128C>A (p.Thr4376=) c.13158C>A (p.Thr4386=) | gnomAD v4 |
| 19 | g.38565495C= | CA2335084912 | RYR1 | c.97C= c.1571C= c.1553C= c.13161C= (p.Thr4387=) c.13146C= (p.Thr4382=) c.13143C= (p.Thr4381=) c.13128C= (p.Thr4376=) c.13158C= (p.Thr4386=) | |
| 19 | g.38565495C>G | CA507355742 | RYR1 | c.97C>G c.1571C>G c.1553C>G c.13161C>G (p.Thr4387=) c.13146C>G (p.Thr4382=) c.13143C>G (p.Thr4381=) c.13128C>G (p.Thr4376=) c.13158C>G (p.Thr4386=) | gnomAD v4 |
| 19 | g.38565495C>T | CA507355743 | RYR1 | c.97C>T c.1571C>T c.1553C>T c.13161C>T (p.Thr4387=) c.13146C>T (p.Thr4382=) c.13143C>T (p.Thr4381=) c.13128C>T (p.Thr4376=) c.13158C>T (p.Thr4386=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565496A= | CA2335084913 | RYR1 | c.98A= c.1572A= c.1554A= c.13162A= (p.Ser4388=) c.13147A= (p.Ser4383=) c.13144A= (p.Ser4382=) c.13129A= (p.Ser4377=) c.13159A= (p.Ser4387=) | |
| 19 | g.38565496A>C | CA405673828 | RYR1 | c.98A>C c.1572A>C c.1554A>C c.13162A>C (p.Ser4388Arg) c.13147A>C (p.Ser4383Arg) c.13144A>C (p.Ser4382Arg) c.13129A>C (p.Ser4377Arg) c.13159A>C (p.Ser4387Arg) | dbSNP |
| 19 | g.38565496A>G | CA405673830 | RYR1 | c.98A>G c.1572A>G c.1554A>G c.13162A>G (p.Ser4388Gly) c.13147A>G (p.Ser4383Gly) c.13144A>G (p.Ser4382Gly) c.13129A>G (p.Ser4377Gly) c.13159A>G (p.Ser4387Gly) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565496A>T | CA405673833 | RYR1 | c.98A>T c.1572A>T c.1554A>T c.13162A>T (p.Ser4388Cys) c.13147A>T (p.Ser4383Cys) c.13144A>T (p.Ser4382Cys) c.13129A>T (p.Ser4377Cys) c.13159A>T (p.Ser4387Cys) | |
| 19 | g.38565497G>A | CA405673849 | RYR1 | c.99G>A c.1573G>A c.1555G>A c.13163G>A (p.Ser4388Asn) c.13148G>A (p.Ser4383Asn) c.13145G>A (p.Ser4382Asn) c.13130G>A (p.Ser4377Asn) c.13160G>A (p.Ser4387Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565497G>C | CA405673856 | RYR1 | c.99G>C c.1573G>C c.1555G>C c.13163G>C (p.Ser4388Thr) c.13148G>C (p.Ser4383Thr) c.13145G>C (p.Ser4382Thr) c.13130G>C (p.Ser4377Thr) c.13160G>C (p.Ser4387Thr) | |
| 19 | g.38565497G= | CA2335084914 | RYR1 | c.99G= c.1573G= c.1555G= c.13163G= (p.Ser4388=) c.13148G= (p.Ser4383=) c.13145G= (p.Ser4382=) c.13130G= (p.Ser4377=) c.13160G= (p.Ser4387=) | |
| 19 | g.38565497G>T | CA405673848 | RYR1 | c.99G>T c.1573G>T c.1555G>T c.13163G>T (p.Ser4388Ile) c.13148G>T (p.Ser4383Ile) c.13145G>T (p.Ser4382Ile) c.13130G>T (p.Ser4377Ile) c.13160G>T (p.Ser4387Ile) | dbSNP gnomAD v4 |
| 19 | g.38565498C>A | CA405673860 | RYR1 | c.100C>A c.1574C>A c.1556C>A c.13164C>A (p.Ser4388Arg) c.13149C>A (p.Ser4383Arg) c.13146C>A (p.Ser4382Arg) c.13131C>A (p.Ser4377Arg) c.13161C>A (p.Ser4387Arg) | gnomAD v4 |
| 19 | g.38565498C= | CA2335084915 | RYR1 | c.100C= c.1574C= c.1556C= c.13164C= (p.Ser4388=) c.13149C= (p.Ser4383=) c.13146C= (p.Ser4382=) c.13131C= (p.Ser4377=) c.13161C= (p.Ser4387=) | |
| 19 | g.38565498C>G | CA405673877 | RYR1 | c.100C>G c.1574C>G c.1556C>G c.13164C>G (p.Ser4388Arg) c.13149C>G (p.Ser4383Arg) c.13146C>G (p.Ser4382Arg) c.13131C>G (p.Ser4377Arg) c.13161C>G (p.Ser4387Arg) | |
| 19 | g.38565498C>T | CA507355747 | RYR1 | c.100C>T c.1574C>T c.1556C>T c.13164C>T (p.Ser4388=) c.13149C>T (p.Ser4383=) c.13146C>T (p.Ser4382=) c.13131C>T (p.Ser4377=) c.13161C>T (p.Ser4387=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565499G>A | CA059610 | RYR1 | c.101G>A c.1575G>A c.1557G>A c.13165G>A (p.Asp4389Asn) c.13150G>A (p.Asp4384Asn) c.13147G>A (p.Asp4383Asn) c.13132G>A (p.Asp4378Asn) c.13162G>A (p.Asp4388Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565499G>C | CA405673890 | RYR1 | c.101G>C c.1575G>C c.1557G>C c.13165G>C (p.Asp4389His) c.13150G>C (p.Asp4384His) c.13147G>C (p.Asp4383His) c.13132G>C (p.Asp4378His) c.13162G>C (p.Asp4388His) | gnomAD v4 |
| 19 | g.38565499G= | CA2335084916 | RYR1 | c.101G= c.1575G= c.1557G= c.13165G= (p.Asp4389=) c.13150G= (p.Asp4384=) c.13147G= (p.Asp4383=) c.13132G= (p.Asp4378=) c.13162G= (p.Asp4388=) | |
| 19 | g.38565499G>T | CA405673893 | RYR1 | c.101G>T c.1575G>T c.1557G>T c.13165G>T (p.Asp4389Tyr) c.13150G>T (p.Asp4384Tyr) c.13147G>T (p.Asp4383Tyr) c.13132G>T (p.Asp4378Tyr) c.13162G>T (p.Asp4388Tyr) | |
| 19 | g.38565500A>C | CA405673897 | RYR1 | c.102A>C c.1576A>C c.1558A>C c.13166A>C (p.Asp4389Ala) c.13151A>C (p.Asp4384Ala) c.13148A>C (p.Asp4383Ala) c.13133A>C (p.Asp4378Ala) c.13163A>C (p.Asp4388Ala) | |
| 19 | g.38565500A>G | CA405673898 | RYR1 | c.102A>G c.1576A>G c.1558A>G c.13166A>G (p.Asp4389Gly) c.13151A>G (p.Asp4384Gly) c.13148A>G (p.Asp4383Gly) c.13133A>G (p.Asp4378Gly) c.13163A>G (p.Asp4388Gly) | gnomAD v4 |
| 19 | g.38565500A>T | CA405673899 | RYR1 | c.102A>T c.1576A>T c.1558A>T c.13166A>T (p.Asp4389Val) c.13151A>T (p.Asp4384Val) c.13148A>T (p.Asp4383Val) c.13133A>T (p.Asp4378Val) c.13163A>T (p.Asp4388Val) | |
| 19 | g.38565501C>A | CA405673900 | RYR1 | c.103C>A c.1577C>A c.1559C>A c.13167C>A (p.Asp4389Glu) c.13152C>A (p.Asp4384Glu) c.13149C>A (p.Asp4383Glu) c.13134C>A (p.Asp4378Glu) c.13164C>A (p.Asp4388Glu) | gnomAD v4 |
| 19 | g.38565501C>G | CA405673901 | RYR1 | c.103C>G c.1577C>G c.1559C>G c.13167C>G (p.Asp4389Glu) c.13152C>G (p.Asp4384Glu) c.13149C>G (p.Asp4383Glu) c.13134C>G (p.Asp4378Glu) c.13164C>G (p.Asp4388Glu) | |
| 19 | g.38565501C>T | CA507355751 | RYR1 | c.103C>T c.1577C>T c.1559C>T c.13167C>T (p.Asp4389=) c.13152C>T (p.Asp4384=) c.13149C>T (p.Asp4383=) c.13134C>T (p.Asp4378=) c.13164C>T (p.Asp4388=) | ClinVar gnomAD v4 |
| 19 | g.38565505_38565516dup | CA2584909154 | RYR1 | c.107_118dup c.1581_1592dup c.1563_1574dup c.13171_13182dup (p.Glu4394_Gln4395insValHisGlyGlu) c.13156_13167dup (p.Glu4389_Gln4390insValHisGlyGlu) c.13153_13164dup (p.Glu4388_Gln4389insValHisGlyGlu) c.13138_13149dup (p.Glu4383_Gln4384insValHisGlyGlu) c.13168_13179dup (p.Glu4393_Gln4394insValHisGlyGlu) | gnomAD v4 |
| 19 | g.38565502G>A | CA080798 | RYR1 | c.104G>A c.1578G>A c.1560G>A c.13168G>A (p.Glu4390Lys) c.13153G>A (p.Glu4385Lys) c.13150G>A (p.Glu4384Lys) c.13135G>A (p.Glu4379Lys) c.13165G>A (p.Glu4389Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565502G>C | CA405673905 | RYR1 | c.104G>C c.1578G>C c.1560G>C c.13168G>C (p.Glu4390Gln) c.13153G>C (p.Glu4385Gln) c.13150G>C (p.Glu4384Gln) c.13135G>C (p.Glu4379Gln) c.13165G>C (p.Glu4389Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565502G= | CA2335084917 | RYR1 | c.104G= c.1578G= c.1560G= c.13168G= (p.Glu4390=) c.13153G= (p.Glu4385=) c.13150G= (p.Glu4384=) c.13135G= (p.Glu4379=) c.13165G= (p.Glu4389=) | |
| 19 | g.38565502G>T | CA405673908 | RYR1 | c.104G>T c.1578G>T c.1560G>T c.13168G>T (p.Glu4390Ter) c.13153G>T (p.Glu4385Ter) c.13150G>T (p.Glu4384Ter) c.13135G>T (p.Glu4379Ter) c.13165G>T (p.Glu4389Ter) | gnomAD v4 |
| 19 | g.38565503A= | CA2335084918 | RYR1 | c.105A= c.1579A= c.1561A= c.13169A= (p.Glu4390=) c.13154A= (p.Glu4385=) c.13151A= (p.Glu4384=) c.13136A= (p.Glu4379=) c.13166A= (p.Glu4389=) | |
| 19 | g.38565503A>C | CA405673919 | RYR1 | c.105A>C c.1579A>C c.1561A>C c.13169A>C (p.Glu4390Ala) c.13154A>C (p.Glu4385Ala) c.13151A>C (p.Glu4384Ala) c.13136A>C (p.Glu4379Ala) c.13166A>C (p.Glu4389Ala) | |
| 19 | g.38565503A>G | CA405673915 | RYR1 | c.105A>G c.1579A>G c.1561A>G c.13169A>G (p.Glu4390Gly) c.13154A>G (p.Glu4385Gly) c.13151A>G (p.Glu4384Gly) c.13136A>G (p.Glu4379Gly) c.13166A>G (p.Glu4389Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565503A>T | CA405673913 | RYR1 | c.105A>T c.1579A>T c.1561A>T c.13169A>T (p.Glu4390Val) c.13154A>T (p.Glu4385Val) c.13151A>T (p.Glu4384Val) c.13136A>T (p.Glu4379Val) c.13166A>T (p.Glu4389Val) | |
| 19 | g.38565504G>A | CA507355753 | RYR1 | c.106G>A c.1580G>A c.1562G>A c.13170G>A (p.Glu4390=) c.13155G>A (p.Glu4385=) c.13152G>A (p.Glu4384=) c.13137G>A (p.Glu4379=) c.13167G>A (p.Glu4389=) | gnomAD v4 |
| 19 | g.38565504G>C | CA405673926 | RYR1 | c.106G>C c.1580G>C c.1562G>C c.13170G>C (p.Glu4390Asp) c.13155G>C (p.Glu4385Asp) c.13152G>C (p.Glu4384Asp) c.13137G>C (p.Glu4379Asp) c.13167G>C (p.Glu4389Asp) | |
| 19 | g.38565504G>T | CA405673960 | RYR1 | c.106G>T c.1580G>T c.1562G>T c.13170G>T (p.Glu4390Asp) c.13155G>T (p.Glu4385Asp) c.13152G>T (p.Glu4384Asp) c.13137G>T (p.Glu4379Asp) c.13167G>T (p.Glu4389Asp) | gnomAD v4 |
| 19 | g.38565505G>A | CA405673963 | RYR1 | c.107G>A c.1581G>A c.1563G>A c.13171G>A (p.Val4391Met) c.13156G>A (p.Val4386Met) c.13153G>A (p.Val4385Met) c.13138G>A (p.Val4380Met) c.13168G>A (p.Val4390Met) | gnomAD v4 |
| 19 | g.38565505G>C | CA405673967 | RYR1 | c.107G>C c.1581G>C c.1563G>C c.13171G>C (p.Val4391Leu) c.13156G>C (p.Val4386Leu) c.13153G>C (p.Val4385Leu) c.13138G>C (p.Val4380Leu) c.13168G>C (p.Val4390Leu) | |
| 19 | g.38565505G>T | CA405673974 | RYR1 | c.107G>T c.1581G>T c.1563G>T c.13171G>T (p.Val4391Leu) c.13156G>T (p.Val4386Leu) c.13153G>T (p.Val4385Leu) c.13138G>T (p.Val4380Leu) c.13168G>T (p.Val4390Leu) | gnomAD v4 |
| 19 | g.38565506T>A | CA405673977 | RYR1 | c.108T>A c.1582T>A c.1564T>A c.13172T>A (p.Val4391Glu) c.13157T>A (p.Val4386Glu) c.13154T>A (p.Val4385Glu) c.13139T>A (p.Val4380Glu) c.13169T>A (p.Val4390Glu) | |
| 19 | g.38565506T>C | CA405673980 | RYR1 | c.108T>C c.1582T>C c.1564T>C c.13172T>C (p.Val4391Ala) c.13157T>C (p.Val4386Ala) c.13154T>C (p.Val4385Ala) c.13139T>C (p.Val4380Ala) c.13169T>C (p.Val4390Ala) | gnomAD v4 |
| 19 | g.38565506T>G | CA405673982 | RYR1 | c.108T>G c.1582T>G c.1564T>G c.13172T>G (p.Val4391Gly) c.13157T>G (p.Val4386Gly) c.13154T>G (p.Val4385Gly) c.13139T>G (p.Val4380Gly) c.13169T>G (p.Val4390Gly) | |
| 19 | g.38565507G>A | CA507355759 | RYR1 | c.109G>A c.1583G>A c.1565G>A c.13173G>A (p.Val4391=) c.13158G>A (p.Val4386=) c.13155G>A (p.Val4385=) c.13140G>A (p.Val4380=) c.13170G>A (p.Val4390=) | gnomAD v4 |
| 19 | g.38565507G>C | CA308109512 | RYR1 | c.109G>C c.1583G>C c.1565G>C c.13173G>C (p.Val4391=) c.13158G>C (p.Val4386=) c.13155G>C (p.Val4385=) c.13140G>C (p.Val4380=) c.13170G>C (p.Val4390=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565507G= | CA2335084919 | RYR1 | c.109G= c.1583G= c.1565G= c.13173G= (p.Val4391=) c.13158G= (p.Val4386=) c.13155G= (p.Val4385=) c.13140G= (p.Val4380=) c.13170G= (p.Val4390=) | |
| 19 | g.38565507G>T | CA507355761 | RYR1 | c.109G>T c.1583G>T c.1565G>T c.13173G>T (p.Val4391=) c.13158G>T (p.Val4386=) c.13155G>T (p.Val4385=) c.13140G>T (p.Val4380=) c.13170G>T (p.Val4390=) | gnomAD v4 |
| 19 | g.38565508C>A | CA405673990 | RYR1 | c.110C>A c.1584C>A c.1566C>A c.13174C>A (p.His4392Asn) c.13159C>A (p.His4387Asn) c.13156C>A (p.His4386Asn) c.13141C>A (p.His4381Asn) c.13171C>A (p.His4391Asn) | gnomAD v4 |
| 19 | g.38565508C= | CA2335084920 | RYR1 | c.110C= c.1584C= c.1566C= c.13174C= (p.His4392=) c.13159C= (p.His4387=) c.13156C= (p.His4386=) c.13141C= (p.His4381=) c.13171C= (p.His4391=) | |
| 19 | g.38565508C>G | CA405674007 | RYR1 | c.110C>G c.1584C>G c.1566C>G c.13174C>G (p.His4392Asp) c.13159C>G (p.His4387Asp) c.13156C>G (p.His4386Asp) c.13141C>G (p.His4381Asp) c.13171C>G (p.His4391Asp) | gnomAD v4 |
| 19 | g.38565508C>T | CA405674010 | RYR1 | c.110C>T c.1584C>T c.1566C>T c.13174C>T (p.His4392Tyr) c.13159C>T (p.His4387Tyr) c.13156C>T (p.His4386Tyr) c.13141C>T (p.His4381Tyr) c.13171C>T (p.His4391Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565509A= | CA2335084921 | RYR1 | c.111A= c.1585A= c.1567A= c.13175A= (p.His4392=) c.13160A= (p.His4387=) c.13157A= (p.His4386=) c.13142A= (p.His4381=) c.13172A= (p.His4391=) | |
| 19 | g.38565509A>C | CA405674014 | RYR1 | c.111A>C c.1585A>C c.1567A>C c.13175A>C (p.His4392Pro) c.13160A>C (p.His4387Pro) c.13157A>C (p.His4386Pro) c.13142A>C (p.His4381Pro) c.13172A>C (p.His4391Pro) | gnomAD v4 |
| 19 | g.38565509A>G | CA405674017 | RYR1 | c.111A>G c.1585A>G c.1567A>G c.13175A>G (p.His4392Arg) c.13160A>G (p.His4387Arg) c.13157A>G (p.His4386Arg) c.13142A>G (p.His4381Arg) c.13172A>G (p.His4391Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565509A>T | CA405674015 | RYR1 | c.111A>T c.1585A>T c.1567A>T c.13175A>T (p.His4392Leu) c.13160A>T (p.His4387Leu) c.13157A>T (p.His4386Leu) c.13142A>T (p.His4381Leu) c.13172A>T (p.His4391Leu) | |
| 19 | g.38565509_38565519del | CA2697556508 | RYR1 | c.111_121del c.1585_1595del c.1567_1577del c.13175_13185del (p.His4392ProfsTer?) c.13160_13170del (p.His4387ProfsTer?) c.13157_13167del (p.His4386ProfsTer?) c.13142_13152del (p.His4381ProfsTer?) c.13172_13182del (p.His4391ProfsTer?) | ClinVar |
| 19 | g.38565510C>A | CA405674021 | RYR1 | c.112C>A c.1586C>A c.1568C>A c.13176C>A (p.His4392Gln) c.13161C>A (p.His4387Gln) c.13158C>A (p.His4386Gln) c.13143C>A (p.His4381Gln) c.13173C>A (p.His4391Gln) | gnomAD v4 |
| 19 | g.38565510C= | CA2335084922 | RYR1 | c.112C= c.1586C= c.1568C= c.13176C= (p.His4392=) c.13161C= (p.His4387=) c.13158C= (p.His4386=) c.13143C= (p.His4381=) c.13173C= (p.His4391=) | |
| 19 | g.38565510C>G | CA405674024 | RYR1 | c.112C>G c.1586C>G c.1568C>G c.13176C>G (p.His4392Gln) c.13161C>G (p.His4387Gln) c.13158C>G (p.His4386Gln) c.13143C>G (p.His4381Gln) c.13173C>G (p.His4391Gln) | |
| 19 | g.38565510C>T | CA507355766 | RYR1 | c.112C>T c.1586C>T c.1568C>T c.13176C>T (p.His4392=) c.13161C>T (p.His4387=) c.13158C>T (p.His4386=) c.13143C>T (p.His4381=) c.13173C>T (p.His4391=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565511G>A | CA405674028 | RYR1 | c.113G>A c.1587G>A c.1569G>A c.13177G>A (p.Gly4393Ser) c.13162G>A (p.Gly4388Ser) c.13159G>A (p.Gly4387Ser) c.13144G>A (p.Gly4382Ser) c.13174G>A (p.Gly4392Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565511G>C | CA405674030 | RYR1 | c.113G>C c.1587G>C c.1569G>C c.13177G>C (p.Gly4393Arg) c.13162G>C (p.Gly4388Arg) c.13159G>C (p.Gly4387Arg) c.13144G>C (p.Gly4382Arg) c.13174G>C (p.Gly4392Arg) | |
| 19 | g.38565511G= | CA2335084923 | RYR1 | c.113G= c.1587G= c.1569G= c.13177G= (p.Gly4393=) c.13162G= (p.Gly4388=) c.13159G= (p.Gly4387=) c.13144G= (p.Gly4382=) c.13174G= (p.Gly4392=) | |
| 19 | g.38565511G>T | CA405674032 | RYR1 | c.113G>T c.1587G>T c.1569G>T c.13177G>T (p.Gly4393Cys) c.13162G>T (p.Gly4388Cys) c.13159G>T (p.Gly4387Cys) c.13144G>T (p.Gly4382Cys) c.13174G>T (p.Gly4392Cys) | dbSNP gnomAD v4 |
| 19 | g.38565512G>A | CA405674034 | RYR1 | c.114G>A c.1588G>A c.1570G>A c.13178G>A (p.Gly4393Asp) c.13163G>A (p.Gly4388Asp) c.13160G>A (p.Gly4387Asp) c.13145G>A (p.Gly4382Asp) c.13175G>A (p.Gly4392Asp) | gnomAD v4 |
| 19 | g.38565512G>C | CA405674035 | RYR1 | c.114G>C c.1588G>C c.1570G>C c.13178G>C (p.Gly4393Ala) c.13163G>C (p.Gly4388Ala) c.13160G>C (p.Gly4387Ala) c.13145G>C (p.Gly4382Ala) c.13175G>C (p.Gly4392Ala) | |
| 19 | g.38565512G>T | CA405674037 | RYR1 | c.114G>T c.1588G>T c.1570G>T c.13178G>T (p.Gly4393Val) c.13163G>T (p.Gly4388Val) c.13160G>T (p.Gly4387Val) c.13145G>T (p.Gly4382Val) c.13175G>T (p.Gly4392Val) | |
| 19 | g.38565514_38565520dup | CA2584909155 | RYR1 | c.116_122dup c.1590_1596dup c.1572_1578dup c.13180_13186dup (p.Pro4396ArgfsTer?) c.13165_13171dup (p.Pro4391ArgfsTer?) c.13162_13168dup (p.Pro4390ArgfsTer?) c.13147_13153dup (p.Pro4385ArgfsTer?) c.13177_13183dup (p.Pro4395ArgfsTer?) | gnomAD v4 |
| 19 | g.38565513C>A | CA507355770 | RYR1 | c.115C>A c.1589C>A c.1571C>A c.13179C>A (p.Gly4393=) c.13164C>A (p.Gly4388=) c.13161C>A (p.Gly4387=) c.13146C>A (p.Gly4382=) c.13176C>A (p.Gly4392=) | gnomAD v4 |
| 19 | g.38565513C>G | CA507355771 | RYR1 | c.115C>G c.1589C>G c.1571C>G c.13179C>G (p.Gly4393=) c.13164C>G (p.Gly4388=) c.13161C>G (p.Gly4387=) c.13146C>G (p.Gly4382=) c.13176C>G (p.Gly4392=) | |
| 19 | g.38565513C>T | CA507355772 | RYR1 | c.115C>T c.1589C>T c.1571C>T c.13179C>T (p.Gly4393=) c.13164C>T (p.Gly4388=) c.13161C>T (p.Gly4387=) c.13146C>T (p.Gly4382=) c.13176C>T (p.Gly4392=) | gnomAD v4 |
| 19 | g.38565514G>A | CA059617 | RYR1 | c.116G>A c.1590G>A c.1572G>A c.13180G>A (p.Glu4394Lys) c.13165G>A (p.Glu4389Lys) c.13162G>A (p.Glu4388Lys) c.13147G>A (p.Glu4383Lys) c.13177G>A (p.Glu4393Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565514G>C | CA405674040 | RYR1 | c.116G>C c.1590G>C c.1572G>C c.13180G>C (p.Glu4394Gln) c.13165G>C (p.Glu4389Gln) c.13162G>C (p.Glu4388Gln) c.13147G>C (p.Glu4383Gln) c.13177G>C (p.Glu4393Gln) | |
| 19 | g.38565514G= | CA2335084924 | RYR1 | c.116G= c.1590G= c.1572G= c.13180G= (p.Glu4394=) c.13165G= (p.Glu4389=) c.13162G= (p.Glu4388=) c.13147G= (p.Glu4383=) c.13177G= (p.Glu4393=) | |
| 19 | g.38565514G>T | CA405674046 | RYR1 | c.116G>T c.1590G>T c.1572G>T c.13180G>T (p.Glu4394Ter) c.13165G>T (p.Glu4389Ter) c.13162G>T (p.Glu4388Ter) c.13147G>T (p.Glu4383Ter) c.13177G>T (p.Glu4393Ter) | gnomAD v4 |
| 19 | g.38565515A>C | CA405674050 | RYR1 | c.117A>C c.1591A>C c.1573A>C c.13181A>C (p.Glu4394Ala) c.13166A>C (p.Glu4389Ala) c.13163A>C (p.Glu4388Ala) c.13148A>C (p.Glu4383Ala) c.13178A>C (p.Glu4393Ala) | |
| 19 | g.38565515A>G | CA405674063 | RYR1 | c.117A>G c.1591A>G c.1573A>G c.13181A>G (p.Glu4394Gly) c.13166A>G (p.Glu4389Gly) c.13163A>G (p.Glu4388Gly) c.13148A>G (p.Glu4383Gly) c.13178A>G (p.Glu4393Gly) | gnomAD v4 |
| 19 | g.38565515A>T | CA405674066 | RYR1 | c.117A>T c.1591A>T c.1573A>T c.13181A>T (p.Glu4394Val) c.13166A>T (p.Glu4389Val) c.13163A>T (p.Glu4388Val) c.13148A>T (p.Glu4383Val) c.13178A>T (p.Glu4393Val) | |
| 19 | g.38565516G>A | CA507355776 | RYR1 | c.118G>A c.1592G>A c.1574G>A c.13182G>A (p.Glu4394=) c.13167G>A (p.Glu4389=) c.13164G>A (p.Glu4388=) c.13149G>A (p.Glu4383=) c.13179G>A (p.Glu4393=) | gnomAD v4 |
| 19 | g.38565516G>C | CA405674068 | RYR1 | c.118G>C c.1592G>C c.1574G>C c.13182G>C (p.Glu4394Asp) c.13167G>C (p.Glu4389Asp) c.13164G>C (p.Glu4388Asp) c.13149G>C (p.Glu4383Asp) c.13179G>C (p.Glu4393Asp) | |
| 19 | g.38565516G>T | CA405674073 | RYR1 | c.118G>T c.1592G>T c.1574G>T c.13182G>T (p.Glu4394Asp) c.13167G>T (p.Glu4389Asp) c.13164G>T (p.Glu4388Asp) c.13149G>T (p.Glu4383Asp) c.13179G>T (p.Glu4393Asp) | |
| 19 | g.38565517C>A | CA405674076 | RYR1 | c.119C>A c.1593C>A c.1575C>A c.13183C>A (p.Gln4395Lys) c.13168C>A (p.Gln4390Lys) c.13165C>A (p.Gln4389Lys) c.13150C>A (p.Gln4384Lys) c.13180C>A (p.Gln4394Lys) | gnomAD v4 |
| 19 | g.38565517C>G | CA405674089 | RYR1 | c.119C>G c.1593C>G c.1575C>G c.13183C>G (p.Gln4395Glu) c.13168C>G (p.Gln4390Glu) c.13165C>G (p.Gln4389Glu) c.13150C>G (p.Gln4384Glu) c.13180C>G (p.Gln4394Glu) | |
| 19 | g.38565517C>T | CA405674085 | RYR1 | c.119C>T c.1593C>T c.1575C>T c.13183C>T (p.Gln4395Ter) c.13168C>T (p.Gln4390Ter) c.13165C>T (p.Gln4389Ter) c.13150C>T (p.Gln4384Ter) c.13180C>T (p.Gln4394Ter) | gnomAD v4 |
| 19 | g.38565518A= | CA2335084925 | RYR1 | c.120A= c.1594A= c.1576A= c.13184A= (p.Gln4395=) c.13169A= (p.Gln4390=) c.13166A= (p.Gln4389=) c.13151A= (p.Gln4384=) c.13181A= (p.Gln4394=) | |
| 19 | g.38565518A>C | CA405674092 | RYR1 | c.120A>C c.1594A>C c.1576A>C c.13184A>C (p.Gln4395Pro) c.13169A>C (p.Gln4390Pro) c.13166A>C (p.Gln4389Pro) c.13151A>C (p.Gln4384Pro) c.13181A>C (p.Gln4394Pro) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565518A>G | CA405674095 | RYR1 | c.120A>G c.1594A>G c.1576A>G c.13184A>G (p.Gln4395Arg) c.13169A>G (p.Gln4390Arg) c.13166A>G (p.Gln4389Arg) c.13151A>G (p.Gln4384Arg) c.13181A>G (p.Gln4394Arg) | dbSNP |
| 19 | g.38565518A>T | CA405674100 | RYR1 | c.120A>T c.1594A>T c.1576A>T c.13184A>T (p.Gln4395Leu) c.13169A>T (p.Gln4390Leu) c.13166A>T (p.Gln4389Leu) c.13151A>T (p.Gln4384Leu) c.13181A>T (p.Gln4394Leu) | |
| 19 | g.38565519G>A | CA507355777 | RYR1 | c.121G>A c.1595G>A c.1577G>A c.13185G>A (p.Gln4395=) c.13170G>A (p.Gln4390=) c.13167G>A (p.Gln4389=) c.13152G>A (p.Gln4384=) c.13182G>A (p.Gln4394=) | gnomAD v4 |
| 19 | g.38565519G>C | CA405674103 | RYR1 | c.121G>C c.1595G>C c.1577G>C c.13185G>C (p.Gln4395His) c.13170G>C (p.Gln4390His) c.13167G>C (p.Gln4389His) c.13152G>C (p.Gln4384His) c.13182G>C (p.Gln4394His) | |
| 19 | g.38565519G= | CA2335084926 | RYR1 | c.121G= c.1595G= c.1577G= c.13185G= (p.Gln4395=) c.13170G= (p.Gln4390=) c.13167G= (p.Gln4389=) c.13152G= (p.Gln4384=) c.13182G= (p.Gln4394=) | |
| 19 | g.38565519G>T | CA405674120 | RYR1 | c.121G>T c.1595G>T c.1577G>T c.13185G>T (p.Gln4395His) c.13170G>T (p.Gln4390His) c.13167G>T (p.Gln4389His) c.13152G>T (p.Gln4384His) c.13182G>T (p.Gln4394His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565520C>A | CA405674121 | RYR1 | c.122C>A c.1596C>A c.1578C>A c.13186C>A (p.Pro4396Thr) c.13171C>A (p.Pro4391Thr) c.13168C>A (p.Pro4390Thr) c.13153C>A (p.Pro4385Thr) c.13183C>A (p.Pro4395Thr) | gnomAD v4 |
| 19 | g.38565520C>G | CA405674122 | RYR1 | c.122C>G c.1596C>G c.1578C>G c.13186C>G (p.Pro4396Ala) c.13171C>G (p.Pro4391Ala) c.13168C>G (p.Pro4390Ala) c.13153C>G (p.Pro4385Ala) c.13183C>G (p.Pro4395Ala) | gnomAD v4 |
| 19 | g.38565520C>T | CA405674125 | RYR1 | c.122C>T c.1596C>T c.1578C>T c.13186C>T (p.Pro4396Ser) c.13171C>T (p.Pro4391Ser) c.13168C>T (p.Pro4390Ser) c.13153C>T (p.Pro4385Ser) c.13183C>T (p.Pro4395Ser) | gnomAD v4 |
| 19 | g.38565521C>A | CA405674141 | RYR1 | c.123C>A c.1597C>A c.1579C>A c.13187C>A (p.Pro4396Gln) c.13172C>A (p.Pro4391Gln) c.13169C>A (p.Pro4390Gln) c.13154C>A (p.Pro4385Gln) c.13184C>A (p.Pro4395Gln) | gnomAD v4 |
| 19 | g.38565521C= | CA2335084927 | RYR1 | c.123C= c.1597C= c.1579C= c.13187C= (p.Pro4396=) c.13172C= (p.Pro4391=) c.13169C= (p.Pro4390=) c.13154C= (p.Pro4385=) c.13184C= (p.Pro4395=) | |
| 19 | g.38565521C>G | CA405674148 | RYR1 | c.123C>G c.1597C>G c.1579C>G c.13187C>G (p.Pro4396Arg) c.13172C>G (p.Pro4391Arg) c.13169C>G (p.Pro4390Arg) c.13154C>G (p.Pro4385Arg) c.13184C>G (p.Pro4395Arg) | |
| 19 | g.38565521C>T | CA405674150 | RYR1 | c.123C>T c.1597C>T c.1579C>T c.13187C>T (p.Pro4396Leu) c.13172C>T (p.Pro4391Leu) c.13169C>T (p.Pro4390Leu) c.13154C>T (p.Pro4385Leu) c.13184C>T (p.Pro4395Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565522G>A | CA10587332 | RYR1 | c.124G>A c.1598G>A c.1580G>A c.13188G>A (p.Pro4396=) c.13173G>A (p.Pro4391=) c.13170G>A (p.Pro4390=) c.13155G>A (p.Pro4385=) c.13185G>A (p.Pro4395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565522G>C | CA507355781 | RYR1 | c.124G>C c.1598G>C c.1580G>C c.13188G>C (p.Pro4396=) c.13173G>C (p.Pro4391=) c.13170G>C (p.Pro4390=) c.13155G>C (p.Pro4385=) c.13185G>C (p.Pro4395=) | |
| 19 | g.38565522G= | CA2335084928 | RYR1 | c.124G= c.1598G= c.1580G= c.13188G= (p.Pro4396=) c.13173G= (p.Pro4391=) c.13170G= (p.Pro4390=) c.13155G= (p.Pro4385=) c.13185G= (p.Pro4395=) | |
| 19 | g.38565522G>T | CA507355782 | RYR1 | c.124G>T c.1598G>T c.1580G>T c.13188G>T (p.Pro4396=) c.13173G>T (p.Pro4391=) c.13170G>T (p.Pro4390=) c.13155G>T (p.Pro4385=) c.13185G>T (p.Pro4395=) | |
| 19 | g.38565530_38565534dup | CA2576772106 | RYR1 | c.132_136dup c.1606_1610dup c.1588_1592dup c.13196_13200dup (p.Gly4401ArgfsTer?) c.13181_13185dup (p.Gly4396ArgfsTer?) c.13178_13182dup (p.Gly4395ArgfsTer?) c.13163_13167dup (p.Gly4390ArgfsTer?) c.13193_13197dup (p.Gly4400ArgfsTer?) | gnomAD v4 |
| 19 | g.38565537_38565632del | CA2584909156 | RYR1 | c.139_234del c.1613_1708del c.1595_1690del c.13203_13298del (p.Asp4402_Gly4433del) c.13188_13283del (p.Asp4397_Gly4428del) c.13185_13280del (p.Asp4396_Gly4427del) c.13170_13265del (p.Asp4391_Gly4422del) c.13200_13295del (p.Asp4401_Gly4432del) | gnomAD v4 |
| 19 | g.38565523G>A | CA405674174 | RYR1 | c.125G>A c.1599G>A c.1581G>A c.13189G>A (p.Ala4397Thr) c.13174G>A (p.Ala4392Thr) c.13171G>A (p.Ala4391Thr) c.13156G>A (p.Ala4386Thr) c.13186G>A (p.Ala4396Thr) | dbSNP gnomAD v4 |
| 19 | g.38565523G>C | CA405674161 | RYR1 | c.125G>C c.1599G>C c.1581G>C c.13189G>C (p.Ala4397Pro) c.13174G>C (p.Ala4392Pro) c.13171G>C (p.Ala4391Pro) c.13156G>C (p.Ala4386Pro) c.13186G>C (p.Ala4396Pro) | |
| 19 | g.38565523G= | CA2335084929 | RYR1 | c.125G= c.1599G= c.1581G= c.13189G= (p.Ala4397=) c.13174G= (p.Ala4392=) c.13171G= (p.Ala4391=) c.13156G= (p.Ala4386=) c.13186G= (p.Ala4396=) | |
| 19 | g.38565523G>T | CA405674165 | RYR1 | c.125G>T c.1599G>T c.1581G>T c.13189G>T (p.Ala4397Ser) c.13174G>T (p.Ala4392Ser) c.13171G>T (p.Ala4391Ser) c.13156G>T (p.Ala4386Ser) c.13186G>T (p.Ala4396Ser) | gnomAD v4 |
| 19 | g.38565524C>A | CA405674175 | RYR1 | c.126C>A c.1600C>A c.1582C>A c.13190C>A (p.Ala4397Asp) c.13175C>A (p.Ala4392Asp) c.13172C>A (p.Ala4391Asp) c.13157C>A (p.Ala4386Asp) c.13187C>A (p.Ala4396Asp) | gnomAD v4 |
| 19 | g.38565524C= | CA2335084930 | RYR1 | c.126C= c.1600C= c.1582C= c.13190C= (p.Ala4397=) c.13175C= (p.Ala4392=) c.13172C= (p.Ala4391=) c.13157C= (p.Ala4386=) c.13187C= (p.Ala4396=) | |
| 19 | g.38565524C>G | CA16607802 | RYR1 | c.126C>G c.1600C>G c.1582C>G c.13190C>G (p.Ala4397Gly) c.13175C>G (p.Ala4392Gly) c.13172C>G (p.Ala4391Gly) c.13157C>G (p.Ala4386Gly) c.13187C>G (p.Ala4396Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565524C>T | CA405674176 | RYR1 | c.126C>T c.1600C>T c.1582C>T c.13190C>T (p.Ala4397Val) c.13175C>T (p.Ala4392Val) c.13172C>T (p.Ala4391Val) c.13157C>T (p.Ala4386Val) c.13187C>T (p.Ala4396Val) | gnomAD v4 |
| 19 | g.38565525C>A | CA507355786 | RYR1 | c.127C>A c.1601C>A c.1583C>A c.13191C>A (p.Ala4397=) c.13176C>A (p.Ala4392=) c.13173C>A (p.Ala4391=) c.13158C>A (p.Ala4386=) c.13188C>A (p.Ala4396=) | gnomAD v4 |
| 19 | g.38565525C= | CA2335084931 | RYR1 | c.127C= c.1601C= c.1583C= c.13191C= (p.Ala4397=) c.13176C= (p.Ala4392=) c.13173C= (p.Ala4391=) c.13158C= (p.Ala4386=) c.13188C= (p.Ala4396=) | |
| 19 | g.38565525C>G | CA507355787 | RYR1 | c.127C>G c.1601C>G c.1583C>G c.13191C>G (p.Ala4397=) c.13176C>G (p.Ala4392=) c.13173C>G (p.Ala4391=) c.13158C>G (p.Ala4386=) c.13188C>G (p.Ala4396=) | |
| 19 | g.38565525C>T | CA059625 | RYR1 | c.127C>T c.1601C>T c.1583C>T c.13191C>T (p.Ala4397=) c.13176C>T (p.Ala4392=) c.13173C>T (p.Ala4391=) c.13158C>T (p.Ala4386=) c.13188C>T (p.Ala4396=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565526G>A | CA405674177 | RYR1 | c.128G>A c.1602G>A c.1584G>A c.13192G>A (p.Gly4398Arg) c.13177G>A (p.Gly4393Arg) c.13174G>A (p.Gly4392Arg) c.13159G>A (p.Gly4387Arg) c.13189G>A (p.Gly4397Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565526G>C | CA405674178 | RYR1 | c.128G>C c.1602G>C c.1584G>C c.13192G>C (p.Gly4398Arg) c.13177G>C (p.Gly4393Arg) c.13174G>C (p.Gly4392Arg) c.13159G>C (p.Gly4387Arg) c.13189G>C (p.Gly4397Arg) | gnomAD v4 |
| 19 | g.38565526G= | CA2335084932 | RYR1 | c.128G= c.1602G= c.1584G= c.13192G= (p.Gly4398=) c.13177G= (p.Gly4393=) c.13174G= (p.Gly4392=) c.13159G= (p.Gly4387=) c.13189G= (p.Gly4397=) | |
| 19 | g.38565526G>T | CA405674181 | RYR1 | c.128G>T c.1602G>T c.1584G>T c.13192G>T (p.Gly4398Trp) c.13177G>T (p.Gly4393Trp) c.13174G>T (p.Gly4392Trp) c.13159G>T (p.Gly4387Trp) c.13189G>T (p.Gly4397Trp) | gnomAD v4 |
| 19 | g.38565528dup | CA2584909157 | RYR1 | c.130dup c.1604dup c.1586dup c.13194dup (p.Pro4399AlafsTer?) c.13179dup (p.Pro4394AlafsTer?) c.13176dup (p.Pro4393AlafsTer?) c.13161dup (p.Pro4388AlafsTer?) c.13191dup (p.Pro4398AlafsTer?) | gnomAD v4 |
| 19 | g.38565528del | CA2584909158 | RYR1 | c.130del c.1604del c.1586del c.13194del (p.Pro4399ArgfsTer?) c.13179del (p.Pro4394ArgfsTer?) c.13176del (p.Pro4393ArgfsTer?) c.13161del (p.Pro4388ArgfsTer?) c.13191del (p.Pro4398ArgfsTer?) | gnomAD v4 |
| 19 | g.38565527G>A | CA405674185 | RYR1 | c.129G>A c.1603G>A c.1585G>A c.13193G>A (p.Gly4398Glu) c.13178G>A (p.Gly4393Glu) c.13175G>A (p.Gly4392Glu) c.13160G>A (p.Gly4387Glu) c.13190G>A (p.Gly4397Glu) | gnomAD v4 |
| 19 | g.38565527G>C | CA405674192 | RYR1 | c.129G>C c.1603G>C c.1585G>C c.13193G>C (p.Gly4398Ala) c.13178G>C (p.Gly4393Ala) c.13175G>C (p.Gly4392Ala) c.13160G>C (p.Gly4387Ala) c.13190G>C (p.Gly4397Ala) | |
| 19 | g.38565527G>T | CA405674197 | RYR1 | c.129G>T c.1603G>T c.1585G>T c.13193G>T (p.Gly4398Val) c.13178G>T (p.Gly4393Val) c.13175G>T (p.Gly4392Val) c.13160G>T (p.Gly4387Val) c.13190G>T (p.Gly4397Val) | gnomAD v4 |
| 19 | g.38565528G>A | CA507355793 | RYR1 | c.130G>A c.1604G>A c.1586G>A c.13194G>A (p.Gly4398=) c.13179G>A (p.Gly4393=) c.13176G>A (p.Gly4392=) c.13161G>A (p.Gly4387=) c.13191G>A (p.Gly4397=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565528G>C | CA507355791 | RYR1 | c.130G>C c.1604G>C c.1586G>C c.13194G>C (p.Gly4398=) c.13179G>C (p.Gly4393=) c.13176G>C (p.Gly4392=) c.13161G>C (p.Gly4387=) c.13191G>C (p.Gly4397=) | |
| 19 | g.38565528G= | CA2335084933 | RYR1 | c.130G= c.1604G= c.1586G= c.13194G= (p.Gly4398=) c.13179G= (p.Gly4393=) c.13176G= (p.Gly4392=) c.13161G= (p.Gly4387=) c.13191G= (p.Gly4397=) | |
| 19 | g.38565528G>T | CA507355792 | RYR1 | c.130G>T c.1604G>T c.1586G>T c.13194G>T (p.Gly4398=) c.13179G>T (p.Gly4393=) c.13176G>T (p.Gly4392=) c.13161G>T (p.Gly4387=) c.13191G>T (p.Gly4397=) | gnomAD v4 |
| 19 | g.38565529C>A | CA405674204 | RYR1 | c.131C>A c.1605C>A c.1587C>A c.13195C>A (p.Pro4399Thr) c.13180C>A (p.Pro4394Thr) c.13177C>A (p.Pro4393Thr) c.13162C>A (p.Pro4388Thr) c.13192C>A (p.Pro4398Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565529C= | CA2335084934 | RYR1 | c.131C= c.1605C= c.1587C= c.13195C= (p.Pro4399=) c.13180C= (p.Pro4394=) c.13177C= (p.Pro4393=) c.13162C= (p.Pro4388=) c.13192C= (p.Pro4398=) | |
| 19 | g.38565529C>G | CA405674212 | RYR1 | c.131C>G c.1605C>G c.1587C>G c.13195C>G (p.Pro4399Ala) c.13180C>G (p.Pro4394Ala) c.13177C>G (p.Pro4393Ala) c.13162C>G (p.Pro4388Ala) c.13192C>G (p.Pro4398Ala) | |
| 19 | g.38565529C>T | CA405674201 | RYR1 | c.131C>T c.1605C>T c.1587C>T c.13195C>T (p.Pro4399Ser) c.13180C>T (p.Pro4394Ser) c.13177C>T (p.Pro4393Ser) c.13162C>T (p.Pro4388Ser) c.13192C>T (p.Pro4398Ser) | gnomAD v4 |
| 19 | g.38565530del | CA2814346292 | RYR1 | c.132del c.1606del c.1588del c.13196del (p.Pro4399ArgfsTer?) c.13181del (p.Pro4394ArgfsTer?) c.13178del (p.Pro4393ArgfsTer?) c.13163del (p.Pro4388ArgfsTer?) c.13193del (p.Pro4398ArgfsTer?) | |
| 19 | g.38565530C>A | CA405674217 | RYR1 | c.132C>A c.1606C>A c.1588C>A c.13196C>A (p.Pro4399Gln) c.13181C>A (p.Pro4394Gln) c.13178C>A (p.Pro4393Gln) c.13163C>A (p.Pro4388Gln) c.13193C>A (p.Pro4398Gln) | gnomAD v4 |
| 19 | g.38565530C= | CA2335084935 | RYR1 | c.132C= c.1606C= c.1588C= c.13196C= (p.Pro4399=) c.13181C= (p.Pro4394=) c.13178C= (p.Pro4393=) c.13163C= (p.Pro4388=) c.13193C= (p.Pro4398=) | |
| 19 | g.38565530C>G | CA405674220 | RYR1 | c.132C>G c.1606C>G c.1588C>G c.13196C>G (p.Pro4399Arg) c.13181C>G (p.Pro4394Arg) c.13178C>G (p.Pro4393Arg) c.13163C>G (p.Pro4388Arg) c.13193C>G (p.Pro4398Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565530C>T | CA405674226 | RYR1 | c.132C>T c.1606C>T c.1588C>T c.13196C>T (p.Pro4399Leu) c.13181C>T (p.Pro4394Leu) c.13178C>T (p.Pro4393Leu) c.13163C>T (p.Pro4388Leu) c.13193C>T (p.Pro4398Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565531G>A | CA507355797 | RYR1 | c.133G>A c.1607G>A c.1589G>A c.13197G>A (p.Pro4399=) c.13182G>A (p.Pro4394=) c.13179G>A (p.Pro4393=) c.13164G>A (p.Pro4388=) c.13194G>A (p.Pro4398=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565531G>C | CA507355798 | RYR1 | c.133G>C c.1607G>C c.1589G>C c.13197G>C (p.Pro4399=) c.13182G>C (p.Pro4394=) c.13179G>C (p.Pro4393=) c.13164G>C (p.Pro4388=) c.13194G>C (p.Pro4398=) | |
| 19 | g.38565531G= | CA2335084936 | RYR1 | c.133G= c.1607G= c.1589G= c.13197G= (p.Pro4399=) c.13182G= (p.Pro4394=) c.13179G= (p.Pro4393=) c.13164G= (p.Pro4388=) c.13194G= (p.Pro4398=) | |
| 19 | g.38565531G>T | CA059632 | RYR1 | c.133G>T c.1607G>T c.1589G>T c.13197G>T (p.Pro4399=) c.13182G>T (p.Pro4394=) c.13179G>T (p.Pro4393=) c.13164G>T (p.Pro4388=) c.13194G>T (p.Pro4398=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565531_38565536dup | CA2697556511 | RYR1 | c.133_138dup c.1607_1612dup c.1589_1594dup c.13197_13202dup (p.Gly4401_Asp4402insGlyGly) c.13182_13187dup (p.Gly4396_Asp4397insGlyGly) c.13179_13184dup (p.Gly4395_Asp4396insGlyGly) c.13164_13169dup (p.Gly4390_Asp4391insGlyGly) c.13194_13199dup (p.Gly4400_Asp4401insGlyGly) | ClinVar |
| 19 | g.38565532G>A | CA405674251 | RYR1 | c.134G>A c.1608G>A c.1590G>A c.13198G>A (p.Gly4400Ser) c.13183G>A (p.Gly4395Ser) c.13180G>A (p.Gly4394Ser) c.13165G>A (p.Gly4389Ser) c.13195G>A (p.Gly4399Ser) | gnomAD v4 |
| 19 | g.38565532G>C | CA405674249 | RYR1 | c.134G>C c.1608G>C c.1590G>C c.13198G>C (p.Gly4400Arg) c.13183G>C (p.Gly4395Arg) c.13180G>C (p.Gly4394Arg) c.13165G>C (p.Gly4389Arg) c.13195G>C (p.Gly4399Arg) | |
| 19 | g.38565532G>T | CA405674245 | RYR1 | c.134G>T c.1608G>T c.1590G>T c.13198G>T (p.Gly4400Cys) c.13183G>T (p.Gly4395Cys) c.13180G>T (p.Gly4394Cys) c.13165G>T (p.Gly4389Cys) c.13195G>T (p.Gly4399Cys) | gnomAD v4 |
| 19 | g.38565533G>A | CA405674255 | RYR1 | c.135G>A c.1609G>A c.1591G>A c.13199G>A (p.Gly4400Asp) c.13184G>A (p.Gly4395Asp) c.13181G>A (p.Gly4394Asp) c.13166G>A (p.Gly4389Asp) c.13196G>A (p.Gly4399Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565533G>C | CA405674260 | RYR1 | c.135G>C c.1609G>C c.1591G>C c.13199G>C (p.Gly4400Ala) c.13184G>C (p.Gly4395Ala) c.13181G>C (p.Gly4394Ala) c.13166G>C (p.Gly4389Ala) c.13196G>C (p.Gly4399Ala) | |
| 19 | g.38565533G= | CA2335084937 | RYR1 | c.135G= c.1609G= c.1591G= c.13199G= (p.Gly4400=) c.13184G= (p.Gly4395=) c.13181G= (p.Gly4394=) c.13166G= (p.Gly4389=) c.13196G= (p.Gly4399=) | |
| 19 | g.38565533G>T | CA405674270 | RYR1 | c.135G>T c.1609G>T c.1591G>T c.13199G>T (p.Gly4400Val) c.13184G>T (p.Gly4395Val) c.13181G>T (p.Gly4394Val) c.13166G>T (p.Gly4389Val) c.13196G>T (p.Gly4399Val) | gnomAD v4 |
| 19 | g.38565534C>A | CA507355802 | RYR1 | c.136C>A c.1610C>A c.1592C>A c.13200C>A (p.Gly4400=) c.13185C>A (p.Gly4395=) c.13182C>A (p.Gly4394=) c.13167C>A (p.Gly4389=) c.13197C>A (p.Gly4399=) | gnomAD v4 |
| 19 | g.38565534C>G | CA507355803 | RYR1 | c.136C>G c.1610C>G c.1592C>G c.13200C>G (p.Gly4400=) c.13185C>G (p.Gly4395=) c.13182C>G (p.Gly4394=) c.13167C>G (p.Gly4389=) c.13197C>G (p.Gly4399=) | |
| 19 | g.38565534C>T | CA507355804 | RYR1 | c.136C>T c.1610C>T c.1592C>T c.13200C>T (p.Gly4400=) c.13185C>T (p.Gly4395=) c.13182C>T (p.Gly4394=) c.13167C>T (p.Gly4389=) c.13197C>T (p.Gly4399=) | ClinVar gnomAD v4 |
| 19 | g.38565535G>A | CA405674273 | RYR1 | c.137G>A c.1611G>A c.1593G>A c.13201G>A (p.Gly4401Arg) c.13186G>A (p.Gly4396Arg) c.13183G>A (p.Gly4395Arg) c.13168G>A (p.Gly4390Arg) c.13198G>A (p.Gly4400Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565535G>C | CA405674277 | RYR1 | c.137G>C c.1611G>C c.1593G>C c.13201G>C (p.Gly4401Arg) c.13186G>C (p.Gly4396Arg) c.13183G>C (p.Gly4395Arg) c.13168G>C (p.Gly4390Arg) c.13198G>C (p.Gly4400Arg) | |
| 19 | g.38565535G= | CA2335084938 | RYR1 | c.137G= c.1611G= c.1593G= c.13201G= (p.Gly4401=) c.13186G= (p.Gly4396=) c.13183G= (p.Gly4395=) c.13168G= (p.Gly4390=) c.13198G= (p.Gly4400=) | |
| 19 | g.38565535G>T | CA405674280 | RYR1 | c.137G>T c.1611G>T c.1593G>T c.13201G>T (p.Gly4401Ter) c.13186G>T (p.Gly4396Ter) c.13183G>T (p.Gly4395Ter) c.13168G>T (p.Gly4390Ter) c.13198G>T (p.Gly4400Ter) | gnomAD v4 |
| 19 | g.38565543_38565578dup | CA2584909159 | RYR1 | c.145_180dup c.1619_1654dup c.1601_1636dup c.13209_13244dup (p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13194_13229dup (p.Ala4410_Ala4411insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13191_13226dup (p.Ala4409_Ala4410insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13176_13211dup (p.Ala4404_Ala4405insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) c.13206_13241dup (p.Ala4414_Ala4415insAspGlyGluGlyAlaSerGluGlyAlaGlyAspAla) | gnomAD v4 |
| 19 | g.38565536G>A | CA405674284 | RYR1 | c.138G>A c.1612G>A c.1594G>A c.13202G>A (p.Gly4401Glu) c.13187G>A (p.Gly4396Glu) c.13184G>A (p.Gly4395Glu) c.13169G>A (p.Gly4390Glu) c.13199G>A (p.Gly4400Glu) | gnomAD v4 |
| 19 | g.38565536G>C | CA405674298 | RYR1 | c.138G>C c.1612G>C c.1594G>C c.13202G>C (p.Gly4401Ala) c.13187G>C (p.Gly4396Ala) c.13184G>C (p.Gly4395Ala) c.13169G>C (p.Gly4390Ala) c.13199G>C (p.Gly4400Ala) | |
| 19 | g.38565536G>T | CA405674295 | RYR1 | c.138G>T c.1612G>T c.1594G>T c.13202G>T (p.Gly4401Val) c.13187G>T (p.Gly4396Val) c.13184G>T (p.Gly4395Val) c.13169G>T (p.Gly4390Val) c.13199G>T (p.Gly4400Val) | gnomAD v4 |
| 19 | g.38565537A>C | CA507355808 | RYR1 | c.139A>C c.1613A>C c.1595A>C c.13203A>C (p.Gly4401=) c.13188A>C (p.Gly4396=) c.13185A>C (p.Gly4395=) c.13170A>C (p.Gly4390=) c.13200A>C (p.Gly4400=) | |
| 19 | g.38565537A>G | CA507355809 | RYR1 | c.139A>G c.1613A>G c.1595A>G c.13203A>G (p.Gly4401=) c.13188A>G (p.Gly4396=) c.13185A>G (p.Gly4395=) c.13170A>G (p.Gly4390=) c.13200A>G (p.Gly4400=) | gnomAD v4 |
| 19 | g.38565537A>T | CA507355810 | RYR1 | c.139A>T c.1613A>T c.1595A>T c.13203A>T (p.Gly4401=) c.13188A>T (p.Gly4396=) c.13185A>T (p.Gly4395=) c.13170A>T (p.Gly4390=) c.13200A>T (p.Gly4400=) | |
| 19 | g.38565538G>A | CA405674301 | RYR1 | c.140G>A c.1614G>A c.1596G>A c.13204G>A (p.Asp4402Asn) c.13189G>A (p.Asp4397Asn) c.13186G>A (p.Asp4396Asn) c.13171G>A (p.Asp4391Asn) c.13201G>A (p.Asp4401Asn) | gnomAD v4 |
| 19 | g.38565538G>C | CA405674306 | RYR1 | c.140G>C c.1614G>C c.1596G>C c.13204G>C (p.Asp4402His) c.13189G>C (p.Asp4397His) c.13186G>C (p.Asp4396His) c.13171G>C (p.Asp4391His) c.13201G>C (p.Asp4401His) | |
| 19 | g.38565538G>T | CA405674310 | RYR1 | c.140G>T c.1614G>T c.1596G>T c.13204G>T (p.Asp4402Tyr) c.13189G>T (p.Asp4397Tyr) c.13186G>T (p.Asp4396Tyr) c.13171G>T (p.Asp4391Tyr) c.13201G>T (p.Asp4401Tyr) | |
| 19 | g.38565539A>C | CA405674312 | RYR1 | c.141A>C c.1615A>C c.1597A>C c.13205A>C (p.Asp4402Ala) c.13190A>C (p.Asp4397Ala) c.13187A>C (p.Asp4396Ala) c.13172A>C (p.Asp4391Ala) c.13202A>C (p.Asp4401Ala) | |
| 19 | g.38565539A>G | CA405674313 | RYR1 | c.141A>G c.1615A>G c.1597A>G c.13205A>G (p.Asp4402Gly) c.13190A>G (p.Asp4397Gly) c.13187A>G (p.Asp4396Gly) c.13172A>G (p.Asp4391Gly) c.13202A>G (p.Asp4401Gly) | gnomAD v4 |
| 19 | g.38565539A>T | CA405674315 | RYR1 | c.141A>T c.1615A>T c.1597A>T c.13205A>T (p.Asp4402Val) c.13190A>T (p.Asp4397Val) c.13187A>T (p.Asp4396Val) c.13172A>T (p.Asp4391Val) c.13202A>T (p.Asp4401Val) | |
| 19 | g.38565540C>A | CA405674319 | RYR1 | c.142C>A c.1616C>A c.1598C>A c.13206C>A (p.Asp4402Glu) c.13191C>A (p.Asp4397Glu) c.13188C>A (p.Asp4396Glu) c.13173C>A (p.Asp4391Glu) c.13203C>A (p.Asp4401Glu) | gnomAD v4 |
| 19 | g.38565540C= | CA2335084939 | RYR1 | c.142C= c.1616C= c.1598C= c.13206C= (p.Asp4402=) c.13191C= (p.Asp4397=) c.13188C= (p.Asp4396=) c.13173C= (p.Asp4391=) c.13203C= (p.Asp4401=) | |
| 19 | g.38565540C>G | CA405674317 | RYR1 | c.142C>G c.1616C>G c.1598C>G c.13206C>G (p.Asp4402Glu) c.13191C>G (p.Asp4397Glu) c.13188C>G (p.Asp4396Glu) c.13173C>G (p.Asp4391Glu) c.13203C>G (p.Asp4401Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565540C>T | CA507355813 | RYR1 | c.142C>T c.1616C>T c.1598C>T c.13206C>T (p.Asp4402=) c.13191C>T (p.Asp4397=) c.13188C>T (p.Asp4396=) c.13173C>T (p.Asp4391=) c.13203C>T (p.Asp4401=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38565541G>A | CA308109525 | RYR1 | c.143G>A c.1617G>A c.1599G>A c.13207G>A (p.Ala4403Thr) c.13192G>A (p.Ala4398Thr) c.13189G>A (p.Ala4397Thr) c.13174G>A (p.Ala4392Thr) c.13204G>A (p.Ala4402Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565541G>C | CA308109529 | RYR1 | c.143G>C c.1617G>C c.1599G>C c.13207G>C (p.Ala4403Pro) c.13192G>C (p.Ala4398Pro) c.13189G>C (p.Ala4397Pro) c.13174G>C (p.Ala4392Pro) c.13204G>C (p.Ala4402Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565541G= | CA2335084940 | RYR1 | c.143G= c.1617G= c.1599G= c.13207G= (p.Ala4403=) c.13192G= (p.Ala4398=) c.13189G= (p.Ala4397=) c.13174G= (p.Ala4392=) c.13204G= (p.Ala4402=) | |
| 19 | g.38565541G>T | CA405674331 | RYR1 | c.143G>T c.1617G>T c.1599G>T c.13207G>T (p.Ala4403Ser) c.13192G>T (p.Ala4398Ser) c.13189G>T (p.Ala4397Ser) c.13174G>T (p.Ala4392Ser) c.13204G>T (p.Ala4402Ser) | gnomAD v4 |
| 19 | g.38565542_38565544del | CA2740096903 | RYR1 | c.144_146del c.1618_1620del c.1600_1602del c.13208_13210del (p.Ala4403del) c.13193_13195del (p.Ala4398del) c.13190_13192del (p.Ala4397del) c.13175_13177del (p.Ala4392del) c.13205_13207del (p.Ala4402del) | ClinVar |
| 19 | g.38565542C>A | CA405674346 | RYR1 | c.144C>A c.1618C>A c.1600C>A c.13208C>A (p.Ala4403Glu) c.13193C>A (p.Ala4398Glu) c.13190C>A (p.Ala4397Glu) c.13175C>A (p.Ala4392Glu) c.13205C>A (p.Ala4402Glu) | gnomAD v4 |
| 19 | g.38565542C>G | CA405674356 | RYR1 | c.144C>G c.1618C>G c.1600C>G c.13208C>G (p.Ala4403Gly) c.13193C>G (p.Ala4398Gly) c.13190C>G (p.Ala4397Gly) c.13175C>G (p.Ala4392Gly) c.13205C>G (p.Ala4402Gly) | |
| 19 | g.38565542C>T | CA405674357 | RYR1 | c.144C>T c.1618C>T c.1600C>T c.13208C>T (p.Ala4403Val) c.13193C>T (p.Ala4398Val) c.13190C>T (p.Ala4397Val) c.13175C>T (p.Ala4392Val) c.13205C>T (p.Ala4402Val) | ClinVar gnomAD v4 |
| 19 | g.38565543A= | CA2335084941 | RYR1 | c.145A= c.1619A= c.1601A= c.13209A= (p.Ala4403=) c.13194A= (p.Ala4398=) c.13191A= (p.Ala4397=) c.13176A= (p.Ala4392=) c.13206A= (p.Ala4402=) | |
| 19 | g.38565543A>C | CA507355815 | RYR1 | c.145A>C c.1619A>C c.1601A>C c.13209A>C (p.Ala4403=) c.13194A>C (p.Ala4398=) c.13191A>C (p.Ala4397=) c.13176A>C (p.Ala4392=) c.13206A>C (p.Ala4402=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565543A>G | CA507355816 | RYR1 | c.145A>G c.1619A>G c.1601A>G c.13209A>G (p.Ala4403=) c.13194A>G (p.Ala4398=) c.13191A>G (p.Ala4397=) c.13176A>G (p.Ala4392=) c.13206A>G (p.Ala4402=) | ClinVar gnomAD v4 |
| 19 | g.38565543A>T | CA507355817 | RYR1 | c.145A>T c.1619A>T c.1601A>T c.13209A>T (p.Ala4403=) c.13194A>T (p.Ala4398=) c.13191A>T (p.Ala4397=) c.13176A>T (p.Ala4392=) c.13206A>T (p.Ala4402=) | |
| 19 | g.38565544G>A | CA405674371 | RYR1 | c.146G>A c.1620G>A c.1602G>A c.13210G>A (p.Asp4404Asn) c.13195G>A (p.Asp4399Asn) c.13192G>A (p.Asp4398Asn) c.13177G>A (p.Asp4393Asn) c.13207G>A (p.Asp4403Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565544G>C | CA405674361 | RYR1 | c.146G>C c.1620G>C c.1602G>C c.13210G>C (p.Asp4404His) c.13195G>C (p.Asp4399His) c.13192G>C (p.Asp4398His) c.13177G>C (p.Asp4393His) c.13207G>C (p.Asp4403His) | |
| 19 | g.38565544G= | CA2335084942 | RYR1 | c.146G= c.1620G= c.1602G= c.13210G= (p.Asp4404=) c.13195G= (p.Asp4399=) c.13192G= (p.Asp4398=) c.13177G= (p.Asp4393=) c.13207G= (p.Asp4403=) | |
| 19 | g.38565544G>T | CA405674368 | RYR1 | c.146G>T c.1620G>T c.1602G>T c.13210G>T (p.Asp4404Tyr) c.13195G>T (p.Asp4399Tyr) c.13192G>T (p.Asp4398Tyr) c.13177G>T (p.Asp4393Tyr) c.13207G>T (p.Asp4403Tyr) | gnomAD v4 |
| 19 | g.38565545A= | CA2335084943 | RYR1 | c.147A= c.1621A= c.1603A= c.13211A= (p.Asp4404=) c.13196A= (p.Asp4399=) c.13193A= (p.Asp4398=) c.13178A= (p.Asp4393=) c.13208A= (p.Asp4403=) | |
| 19 | g.38565545A>C | CA405674383 | RYR1 | c.147A>C c.1621A>C c.1603A>C c.13211A>C (p.Asp4404Ala) c.13196A>C (p.Asp4399Ala) c.13193A>C (p.Asp4398Ala) c.13178A>C (p.Asp4393Ala) c.13208A>C (p.Asp4403Ala) | |
| 19 | g.38565545A>G | CA405674386 | RYR1 | c.147A>G c.1621A>G c.1603A>G c.13211A>G (p.Asp4404Gly) c.13196A>G (p.Asp4399Gly) c.13193A>G (p.Asp4398Gly) c.13178A>G (p.Asp4393Gly) c.13208A>G (p.Asp4403Gly) | dbSNP gnomAD v4 |
| 19 | g.38565545A>T | CA405674387 | RYR1 | c.147A>T c.1621A>T c.1603A>T c.13211A>T (p.Asp4404Val) c.13196A>T (p.Asp4399Val) c.13193A>T (p.Asp4398Val) c.13178A>T (p.Asp4393Val) c.13208A>T (p.Asp4403Val) | |
| 19 | g.38565546C>A | CA405674390 | RYR1 | c.148C>A c.1622C>A c.1604C>A c.13212C>A (p.Asp4404Glu) c.13197C>A (p.Asp4399Glu) c.13194C>A (p.Asp4398Glu) c.13179C>A (p.Asp4393Glu) c.13209C>A (p.Asp4403Glu) | gnomAD v4 |
| 19 | g.38565546C= | CA2335084944 | RYR1 | c.148C= c.1622C= c.1604C= c.13212C= (p.Asp4404=) c.13197C= (p.Asp4399=) c.13194C= (p.Asp4398=) c.13179C= (p.Asp4393=) c.13209C= (p.Asp4403=) | |
| 19 | g.38565546C>G | CA405674393 | RYR1 | c.148C>G c.1622C>G c.1604C>G c.13212C>G (p.Asp4404Glu) c.13197C>G (p.Asp4399Glu) c.13194C>G (p.Asp4398Glu) c.13179C>G (p.Asp4393Glu) c.13209C>G (p.Asp4403Glu) | |
| 19 | g.38565546C>T | CA308109547 | RYR1 | c.148C>T c.1622C>T c.1604C>T c.13212C>T (p.Asp4404=) c.13197C>T (p.Asp4399=) c.13194C>T (p.Asp4398=) c.13179C>T (p.Asp4393=) c.13209C>T (p.Asp4403=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565547_38565558dup | CA059643 | RYR1 | c.149_160dup c.1623_1634dup c.1605_1616dup c.13213_13224dup (p.Ala4408_Ser4409insGlyGluGlyAla) c.13198_13209dup (p.Ala4403_Ser4404insGlyGluGlyAla) c.13195_13206dup (p.Ala4402_Ser4403insGlyGluGlyAla) c.13180_13191dup (p.Ala4397_Ser4398insGlyGluGlyAla) c.13210_13221dup (p.Ala4407_Ser4408insGlyGluGlyAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565547G>A | CA405674394 | RYR1 | c.149G>A c.1623G>A c.1605G>A c.13213G>A (p.Gly4405Ser) c.13198G>A (p.Gly4400Ser) c.13195G>A (p.Gly4399Ser) c.13180G>A (p.Gly4394Ser) c.13210G>A (p.Gly4404Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565547G>C | CA405674395 | RYR1 | c.149G>C c.1623G>C c.1605G>C c.13213G>C (p.Gly4405Arg) c.13198G>C (p.Gly4400Arg) c.13195G>C (p.Gly4399Arg) c.13180G>C (p.Gly4394Arg) c.13210G>C (p.Gly4404Arg) | |
| 19 | g.38565547G= | CA2335084945 | RYR1 | c.149G= c.1623G= c.1605G= c.13213G= (p.Gly4405=) c.13198G= (p.Gly4400=) c.13195G= (p.Gly4399=) c.13180G= (p.Gly4394=) c.13210G= (p.Gly4404=) | |
| 19 | g.38565547G>T | CA308109552 | RYR1 | c.149G>T c.1623G>T c.1605G>T c.13213G>T (p.Gly4405Cys) c.13198G>T (p.Gly4400Cys) c.13195G>T (p.Gly4399Cys) c.13180G>T (p.Gly4394Cys) c.13210G>T (p.Gly4404Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565547_38565559delinsGGCGAGGGTGCCA | CA2335084946 | RYR1 | c.149_161delinsGGCGAGGGTGCCA c.1623_1635delinsGGCGAGGGTGCCA c.1605_1617delinsGGCGAGGGTGCCA c.13213_13225delinsGGCGAGGGTGCCA (p.Gly4405=) c.13198_13210delinsGGCGAGGGTGCCA (p.Gly4400=) c.13195_13207delinsGGCGAGGGTGCCA (p.Gly4399=) c.13180_13192delinsGGCGAGGGTGCCA (p.Gly4394=) c.13210_13222delinsGGCGAGGGTGCCA (p.Gly4404=) | |
| 19 | g.38565548G>A | CA405674396 | RYR1 | c.150G>A c.1624G>A c.1606G>A c.13214G>A (p.Gly4405Asp) c.13199G>A (p.Gly4400Asp) c.13196G>A (p.Gly4399Asp) c.13181G>A (p.Gly4394Asp) c.13211G>A (p.Gly4404Asp) | gnomAD v4 |
| 19 | g.38565548G>C | CA405674397 | RYR1 | c.150G>C c.1624G>C c.1606G>C c.13214G>C (p.Gly4405Ala) c.13199G>C (p.Gly4400Ala) c.13196G>C (p.Gly4399Ala) c.13181G>C (p.Gly4394Ala) c.13211G>C (p.Gly4404Ala) | |
| 19 | g.38565548G>T | CA405674398 | RYR1 | c.150G>T c.1624G>T c.1606G>T c.13214G>T (p.Gly4405Val) c.13199G>T (p.Gly4400Val) c.13196G>T (p.Gly4399Val) c.13181G>T (p.Gly4394Val) c.13211G>T (p.Gly4404Val) | gnomAD v4 |
| 19 | g.38565555_38565566del | CA633066823 | RYR1 | c.157_168del c.1631_1642del c.1613_1624del c.13221_13232del (p.Ala4408_Gly4411del) c.13206_13217del (p.Ala4403_Gly4406del) c.13203_13214del (p.Ala4402_Gly4405del) c.13188_13199del (p.Ala4397_Gly4400del) c.13218_13229del (p.Ala4407_Gly4410del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565549C>A | CA507355821 | RYR1 | c.151C>A c.1625C>A c.1607C>A c.13215C>A (p.Gly4405=) c.13200C>A (p.Gly4400=) c.13197C>A (p.Gly4399=) c.13182C>A (p.Gly4394=) c.13212C>A (p.Gly4404=) | gnomAD v4 |
| 19 | g.38565549C= | CA2335084947 | RYR1 | c.151C= c.1625C= c.1607C= c.13215C= (p.Gly4405=) c.13200C= (p.Gly4400=) c.13197C= (p.Gly4399=) c.13182C= (p.Gly4394=) c.13212C= (p.Gly4404=) | |
| 19 | g.38565549C>G | CA507355823 | RYR1 | c.151C>G c.1625C>G c.1607C>G c.13215C>G (p.Gly4405=) c.13200C>G (p.Gly4400=) c.13197C>G (p.Gly4399=) c.13182C>G (p.Gly4394=) c.13212C>G (p.Gly4404=) | gnomAD v4 |
| 19 | g.38565549C>T | CA308109564 | RYR1 | c.151C>T c.1625C>T c.1607C>T c.13215C>T (p.Gly4405=) c.13200C>T (p.Gly4400=) c.13197C>T (p.Gly4399=) c.13182C>T (p.Gly4394=) c.13212C>T (p.Gly4404=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565550_38565551insGCGAGGGTGCCG | CA080809 | RYR1 | c.152_153insGCGAGGGTGCCG c.1626_1627insGCGAGGGTGCCG c.1608_1609insGCGAGGGTGCCG c.13216_13217insGCGAGGGTGCCG (p.Gly4405_Glu4406insGlyGluGlyAla) c.13201_13202insGCGAGGGTGCCG (p.Gly4400_Glu4401insGlyGluGlyAla) c.13198_13199insGCGAGGGTGCCG (p.Gly4399_Glu4400insGlyGluGlyAla) c.13183_13184insGCGAGGGTGCCG (p.Gly4394_Glu4395insGlyGluGlyAla) c.13213_13214insGCGAGGGTGCCG (p.Gly4404_Glu4405insGlyGluGlyAla) | |
| 19 | g.38565550G>A | CA405674400 | RYR1 | c.152G>A c.1626G>A c.1608G>A c.13216G>A (p.Glu4406Lys) c.13201G>A (p.Glu4401Lys) c.13198G>A (p.Glu4400Lys) c.13183G>A (p.Glu4395Lys) c.13213G>A (p.Glu4405Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565550G>C | CA405674411 | RYR1 | c.152G>C c.1626G>C c.1608G>C c.13216G>C (p.Glu4406Gln) c.13201G>C (p.Glu4401Gln) c.13198G>C (p.Glu4400Gln) c.13183G>C (p.Glu4395Gln) c.13213G>C (p.Glu4405Gln) | |
| 19 | g.38565550G= | CA2335084948 | RYR1 | c.152G= c.1626G= c.1608G= c.13216G= (p.Glu4406=) c.13201G= (p.Glu4401=) c.13198G= (p.Glu4400=) c.13183G= (p.Glu4395=) c.13213G= (p.Glu4405=) | |
| 19 | g.38565550G>T | CA405674403 | RYR1 | c.152G>T c.1626G>T c.1608G>T c.13216G>T (p.Glu4406Ter) c.13201G>T (p.Glu4401Ter) c.13198G>T (p.Glu4400Ter) c.13183G>T (p.Glu4395Ter) c.13213G>T (p.Glu4405Ter) | dbSNP gnomAD v4 |
| 19 | g.38565551A= | CA2335084949 | RYR1 | c.153A= c.1627A= c.1609A= c.13217A= (p.Glu4406=) c.13202A= (p.Glu4401=) c.13199A= (p.Glu4400=) c.13184A= (p.Glu4395=) c.13214A= (p.Glu4405=) | |
| 19 | g.38565551A>C | CA308109569 | RYR1 | c.153A>C c.1627A>C c.1609A>C c.13217A>C (p.Glu4406Ala) c.13202A>C (p.Glu4401Ala) c.13199A>C (p.Glu4400Ala) c.13184A>C (p.Glu4395Ala) c.13214A>C (p.Glu4405Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565551A>G | CA405674414 | RYR1 | c.153A>G c.1627A>G c.1609A>G c.13217A>G (p.Glu4406Gly) c.13202A>G (p.Glu4401Gly) c.13199A>G (p.Glu4400Gly) c.13184A>G (p.Glu4395Gly) c.13214A>G (p.Glu4405Gly) | gnomAD v4 |
| 19 | g.38565551A>T | CA405674415 | RYR1 | c.153A>T c.1627A>T c.1609A>T c.13217A>T (p.Glu4406Val) c.13202A>T (p.Glu4401Val) c.13199A>T (p.Glu4400Val) c.13184A>T (p.Glu4395Val) c.13214A>T (p.Glu4405Val) | gnomAD v4 |
| 19 | g.38565551_38565552delinsAG | CA2335084950 | RYR1 | c.153_154delinsAG c.1627_1628delinsAG c.1609_1610delinsAG c.13217_13218delinsAG (p.Glu4406=) c.13202_13203delinsAG (p.Glu4401=) c.13199_13200delinsAG (p.Glu4400=) c.13184_13185delinsAG (p.Glu4395=) c.13214_13215delinsAG (p.Glu4405=) | |
| 19 | g.38565552G>A | CA507355824 | RYR1 | c.154G>A c.1628G>A c.1610G>A c.13218G>A (p.Glu4406=) c.13203G>A (p.Glu4401=) c.13200G>A (p.Glu4400=) c.13185G>A (p.Glu4395=) c.13215G>A (p.Glu4405=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565552G>C | CA405674416 | RYR1 | c.154G>C c.1628G>C c.1610G>C c.13218G>C (p.Glu4406Asp) c.13203G>C (p.Glu4401Asp) c.13200G>C (p.Glu4400Asp) c.13185G>C (p.Glu4395Asp) c.13215G>C (p.Glu4405Asp) | gnomAD v4 |
| 19 | g.38565552G= | CA2335084951 | RYR1 | c.154G= c.1628G= c.1610G= c.13218G= (p.Glu4406=) c.13203G= (p.Glu4401=) c.13200G= (p.Glu4400=) c.13185G= (p.Glu4395=) c.13215G= (p.Glu4405=) | |
| 19 | g.38565552G>T | CA405674417 | RYR1 | c.154G>T c.1628G>T c.1610G>T c.13218G>T (p.Glu4406Asp) c.13203G>T (p.Glu4401Asp) c.13200G>T (p.Glu4400Asp) c.13185G>T (p.Glu4395Asp) c.13215G>T (p.Glu4405Asp) | gnomAD v4 |
| 19 | g.38565554del | CA891863129 | RYR1 | c.156del c.1630del c.1612del c.13220del (p.Gly4407ValfsTer?) c.13205del (p.Gly4402ValfsTer?) c.13202del (p.Gly4401ValfsTer?) c.13187del (p.Gly4396ValfsTer?) c.13217del (p.Gly4406ValfsTer?) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38565553G>A | CA405674418 | RYR1 | c.155G>A c.1629G>A c.1611G>A c.13219G>A (p.Gly4407Ser) c.13204G>A (p.Gly4402Ser) c.13201G>A (p.Gly4401Ser) c.13186G>A (p.Gly4396Ser) c.13216G>A (p.Gly4406Ser) | gnomAD v4 |
| 19 | g.38565553G>C | CA405674421 | RYR1 | c.155G>C c.1629G>C c.1611G>C c.13219G>C (p.Gly4407Arg) c.13204G>C (p.Gly4402Arg) c.13201G>C (p.Gly4401Arg) c.13186G>C (p.Gly4396Arg) c.13216G>C (p.Gly4406Arg) | |
| 19 | g.38565553G>T | CA405674422 | RYR1 | c.155G>T c.1629G>T c.1611G>T c.13219G>T (p.Gly4407Cys) c.13204G>T (p.Gly4402Cys) c.13201G>T (p.Gly4401Cys) c.13186G>T (p.Gly4396Cys) c.13216G>T (p.Gly4406Cys) | gnomAD v4 |
| 19 | g.38565554G>A | CA405674427 | RYR1 | c.156G>A c.1630G>A c.1612G>A c.13220G>A (p.Gly4407Asp) c.13205G>A (p.Gly4402Asp) c.13202G>A (p.Gly4401Asp) c.13187G>A (p.Gly4396Asp) c.13217G>A (p.Gly4406Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565554G>C | CA405674430 | RYR1 | c.156G>C c.1630G>C c.1612G>C c.13220G>C (p.Gly4407Ala) c.13205G>C (p.Gly4402Ala) c.13202G>C (p.Gly4401Ala) c.13187G>C (p.Gly4396Ala) c.13217G>C (p.Gly4406Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565554G= | CA2335084952 | RYR1 | c.156G= c.1630G= c.1612G= c.13220G= (p.Gly4407=) c.13205G= (p.Gly4402=) c.13202G= (p.Gly4401=) c.13187G= (p.Gly4396=) c.13217G= (p.Gly4406=) | |
| 19 | g.38565554G>T | CA059654 | RYR1 | c.156G>T c.1630G>T c.1612G>T c.13220G>T (p.Gly4407Val) c.13205G>T (p.Gly4402Val) c.13202G>T (p.Gly4401Val) c.13187G>T (p.Gly4396Val) c.13217G>T (p.Gly4406Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38565555T>A | CA507355828 | RYR1 | c.157T>A c.1631T>A c.1613T>A c.13221T>A (p.Gly4407=) c.13206T>A (p.Gly4402=) c.13203T>A (p.Gly4401=) c.13188T>A (p.Gly4396=) c.13218T>A (p.Gly4406=) | |
| 19 | g.38565555T>C | CA507355829 | RYR1 | c.157T>C c.1631T>C c.1613T>C c.13221T>C (p.Gly4407=) c.13206T>C (p.Gly4402=) c.13203T>C (p.Gly4401=) c.13188T>C (p.Gly4396=) c.13218T>C (p.Gly4406=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565555T>G | CA507355830 | RYR1 | c.157T>G c.1631T>G c.1613T>G c.13221T>G (p.Gly4407=) c.13206T>G (p.Gly4402=) c.13203T>G (p.Gly4401=) c.13188T>G (p.Gly4396=) c.13218T>G (p.Gly4406=) | gnomAD v4 |
| 19 | g.38565555T= | CA2335084953 | RYR1 | c.157T= c.1631T= c.1613T= c.13221T= (p.Gly4407=) c.13206T= (p.Gly4402=) c.13203T= (p.Gly4401=) c.13188T= (p.Gly4396=) c.13218T= (p.Gly4406=) | |
| 19 | g.38565556G>A | CA405674443 | RYR1 | c.158G>A c.1632G>A c.1614G>A c.13222G>A (p.Ala4408Thr) c.13207G>A (p.Ala4403Thr) c.13204G>A (p.Ala4402Thr) c.13189G>A (p.Ala4397Thr) c.13219G>A (p.Ala4407Thr) | gnomAD v4 |
| 19 | g.38565556G>C | CA059660 | RYR1 | c.158G>C c.1632G>C c.1614G>C c.13222G>C (p.Ala4408Pro) c.13207G>C (p.Ala4403Pro) c.13204G>C (p.Ala4402Pro) c.13189G>C (p.Ala4397Pro) c.13219G>C (p.Ala4407Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565556G= | CA2335084954 | RYR1 | c.158G= c.1632G= c.1614G= c.13222G= (p.Ala4408=) c.13207G= (p.Ala4403=) c.13204G= (p.Ala4402=) c.13189G= (p.Ala4397=) c.13219G= (p.Ala4407=) | |
| 19 | g.38565556G>T | CA405674437 | RYR1 | c.158G>T c.1632G>T c.1614G>T c.13222G>T (p.Ala4408Ser) c.13207G>T (p.Ala4403Ser) c.13204G>T (p.Ala4402Ser) c.13189G>T (p.Ala4397Ser) c.13219G>T (p.Ala4407Ser) | gnomAD v4 |
| 19 | g.38565558_38565569dup | CA915953153 | RYR1 | c.160_171dup c.1634_1645dup c.1616_1627dup c.13224_13235dup (p.Ala4412_Gly4413insSerGluGlyAla) c.13209_13220dup (p.Ala4407_Gly4408insSerGluGlyAla) c.13206_13217dup (p.Ala4406_Gly4407insSerGluGlyAla) c.13191_13202dup (p.Ala4401_Gly4402insSerGluGlyAla) c.13221_13232dup (p.Ala4411_Gly4412insSerGluGlyAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38565559_38565579del | CA2584909163 | RYR1 | c.161_181del c.1635_1655del c.1617_1637del c.13225_13245del (p.Ser4409_Ala4415del) c.13210_13230del (p.Ser4404_Ala4410del) c.13207_13227del (p.Ser4403_Ala4409del) c.13192_13212del (p.Ser4398_Ala4404del) c.13222_13242del (p.Ser4408_Ala4414del) | gnomAD v4 |
| 19 | g.38565557C>A | CA405674446 | RYR1 | c.159C>A c.1633C>A c.1615C>A c.13223C>A (p.Ala4408Asp) c.13208C>A (p.Ala4403Asp) c.13205C>A (p.Ala4402Asp) c.13190C>A (p.Ala4397Asp) c.13220C>A (p.Ala4407Asp) | gnomAD v4 |
| 19 | g.38565557C= | CA2335084955 | RYR1 | c.159C= c.1633C= c.1615C= c.13223C= (p.Ala4408=) c.13208C= (p.Ala4403=) c.13205C= (p.Ala4402=) c.13190C= (p.Ala4397=) c.13220C= (p.Ala4407=) | |
| 19 | g.38565557C>G | CA405674449 | RYR1 | c.159C>G c.1633C>G c.1615C>G c.13223C>G (p.Ala4408Gly) c.13208C>G (p.Ala4403Gly) c.13205C>G (p.Ala4402Gly) c.13190C>G (p.Ala4397Gly) c.13220C>G (p.Ala4407Gly) | |
| 19 | g.38565557C>T | CA405674456 | RYR1 | c.159C>T c.1633C>T c.1615C>T c.13223C>T (p.Ala4408Val) c.13208C>T (p.Ala4403Val) c.13205C>T (p.Ala4402Val) c.13190C>T (p.Ala4397Val) c.13220C>T (p.Ala4407Val) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38565558C>A | CA507355833 | RYR1 | c.160C>A c.1634C>A c.1616C>A c.13224C>A (p.Ala4408=) c.13209C>A (p.Ala4403=) c.13206C>A (p.Ala4402=) c.13191C>A (p.Ala4397=) c.13221C>A (p.Ala4407=) | gnomAD v4 |
| 19 | g.38565558C= | CA2335084956 | RYR1 | c.160C= c.1634C= c.1616C= c.13224C= (p.Ala4408=) c.13209C= (p.Ala4403=) c.13206C= (p.Ala4402=) c.13191C= (p.Ala4397=) c.13221C= (p.Ala4407=) | |
| 19 | g.38565558C>G | CA507355831 | RYR1 | c.160C>G c.1634C>G c.1616C>G c.13224C>G (p.Ala4408=) c.13209C>G (p.Ala4403=) c.13206C>G (p.Ala4402=) c.13191C>G (p.Ala4397=) c.13221C>G (p.Ala4407=) | ClinVar dbSNP |
| 19 | g.38565558C>T | CA507355832 | RYR1 | c.160C>T c.1634C>T c.1616C>T c.13224C>T (p.Ala4408=) c.13209C>T (p.Ala4403=) c.13206C>T (p.Ala4402=) c.13191C>T (p.Ala4397=) c.13221C>T (p.Ala4407=) | gnomAD v4 |
| 19 | g.38565559A= | CA2335084957 | RYR1 | c.161A= c.1635A= c.1617A= c.13225A= (p.Ser4409=) c.13210A= (p.Ser4404=) c.13207A= (p.Ser4403=) c.13192A= (p.Ser4398=) c.13222A= (p.Ser4408=) | |
| 19 | g.38565559A>C | CA405674460 | RYR1 | c.161A>C c.1635A>C c.1617A>C c.13225A>C (p.Ser4409Arg) c.13210A>C (p.Ser4404Arg) c.13207A>C (p.Ser4403Arg) c.13192A>C (p.Ser4398Arg) c.13222A>C (p.Ser4408Arg) | gnomAD v4 |
| 19 | g.38565559A>G | CA405674465 | RYR1 | c.161A>G c.1635A>G c.1617A>G c.13225A>G (p.Ser4409Gly) c.13210A>G (p.Ser4404Gly) c.13207A>G (p.Ser4403Gly) c.13192A>G (p.Ser4398Gly) c.13222A>G (p.Ser4408Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38565559A>T | CA405674467 | RYR1 | c.161A>T c.1635A>T c.1617A>T c.13225A>T (p.Ser4409Cys) c.13210A>T (p.Ser4404Cys) c.13207A>T (p.Ser4403Cys) c.13192A>T (p.Ser4398Cys) c.13222A>T (p.Ser4408Cys) | |
| 19 | g.38565559_38565570del | CA2814346314 | RYR1 | c.161_172del c.1635_1646del c.1617_1628del c.13225_13236del (p.Ser4409_Ala4412del) c.13210_13221del (p.Ser4404_Ala4407del) c.13207_13218del (p.Ser4403_Ala4406del) c.13192_13203del (p.Ser4398_Ala4401del) c.13222_13233del (p.Ser4408_Ala4411del) | |
| 19 | g.38565560G>A | CA405674470 | RYR1 | c.162G>A c.1636G>A c.1618G>A c.13226G>A (p.Ser4409Asn) c.13211G>A (p.Ser4404Asn) c.13208G>A (p.Ser4403Asn) c.13193G>A (p.Ser4398Asn) c.13223G>A (p.Ser4408Asn) | gnomAD v4 |
| 19 | g.38565560G>C | CA405674477 | RYR1 | c.162G>C c.1636G>C c.1618G>C c.13226G>C (p.Ser4409Thr) c.13211G>C (p.Ser4404Thr) c.13208G>C (p.Ser4403Thr) c.13193G>C (p.Ser4398Thr) c.13223G>C (p.Ser4408Thr) | |
| 19 | g.38565560G>T | CA405674481 | RYR1 | c.162G>T c.1636G>T c.1618G>T c.13226G>T (p.Ser4409Ile) c.13211G>T (p.Ser4404Ile) c.13208G>T (p.Ser4403Ile) c.13193G>T (p.Ser4398Ile) c.13223G>T (p.Ser4408Ile) | gnomAD v4 |