Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38485584C>T | CA2584898010 | RYR1 | c.4935-6C>T (n.4935-6C>T) c.4932-6C>T (n.4932-6C>T) n.5018-6C>T | gnomAD v4 |
19 | g.38485585T>C | CA2584898011 | RYR1 | c.4935-5T>C (n.4935-5T>C) c.4932-5T>C (n.4932-5T>C) n.5018-5T>C | gnomAD v4 |
19 | g.38485586G>A | CA2584898012 | RYR1 | c.4935-4G>A (n.4935-4G>A) c.4932-4G>A (n.4932-4G>A) n.5018-4G>A | gnomAD v4 |
19 | g.38485586G= | CA2335046131 | RYR1 | c.4935-4G= (n.4935-4G=) c.4932-4G= (n.4932-4G=) n.5018-4G= | |
19 | g.38485586G>T | CA633066577 | RYR1 | c.4935-4G>T (n.4935-4G>T) c.4932-4G>T (n.4932-4G>T) n.5018-4G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485587C>A | CA2584898013 | RYR1 | c.4935-3C>A (n.4935-3C>A) c.4932-3C>A (n.4932-3C>A) n.5018-3C>A | gnomAD v4 |
19 | g.38485587C>T | CA2584898014 | RYR1 | c.4935-3C>T (n.4935-3C>T) c.4932-3C>T (n.4932-3C>T) n.5018-3C>T | gnomAD v4 |
19 | g.38485588A= | CA2335046132 | RYR1 | c.4935-2A= (n.4935-2A=) c.4932-2A= (n.4932-2A=) n.5018-2A= | |
19 | g.38485588A>C | CA405652346 | RYR1 | c.4935-2A>C (n.4935-2A>C) c.4932-2A>C (n.4932-2A>C) n.5018-2A>C | |
19 | g.38485588A>G | CA405652352 | RYR1 | c.4935-2A>G (n.4935-2A>G) c.4932-2A>G (n.4932-2A>G) n.5018-2A>G | |
19 | g.38485588A>T | CA405652355 | RYR1 | c.4935-2A>T (n.4935-2A>T) c.4932-2A>T (n.4932-2A>T) n.5018-2A>T | ClinVar dbSNP |
19 | g.38485589G>A | CA405652359 | RYR1 | c.4935-1G>A (n.4935-1G>A) c.4932-1G>A (n.4932-1G>A) n.5018-1G>A | ClinVar gnomAD v4 |
19 | g.38485589G>C | CA405652361 | RYR1 | c.4935-1G>C (n.4935-1G>C) c.4932-1G>C (n.4932-1G>C) n.5018-1G>C | ClinVar gnomAD v4 |
19 | g.38485589G>T | CA405652364 | RYR1 | c.4935-1G>T (n.4935-1G>T) c.4932-1G>T (n.4932-1G>T) n.5018-1G>T | gnomAD v4 |
19 | g.38485590G>A | CA507238175 | RYR1 | c.4935G>A (p.Arg1645=) c.4932G>A (p.Arg1644=) n.5018G>A | |
19 | g.38485590G>C | CA507238177 | RYR1 | c.4935G>C (p.Arg1645=) c.4932G>C (p.Arg1644=) n.5018G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485590G= | CA2335046133 | RYR1 | c.4935G= (p.Arg1645=) c.4932G= (p.Arg1644=) n.5018G= | |
19 | g.38485590G>T | CA507238176 | RYR1 | c.4935G>T (p.Arg1645=) c.4932G>T (p.Arg1644=) n.5018G>T | gnomAD v4 |
19 | g.38485591T>A | CA405652374 | RYR1 | c.4936T>A (p.Cys1646Ser) c.4933T>A (p.Cys1645Ser) n.5019T>A | |
19 | g.38485591T>C | CA405652373 | RYR1 | c.4936T>C (p.Cys1646Arg) c.4933T>C (p.Cys1645Arg) n.5019T>C | |
19 | g.38485591T>G | CA405652370 | RYR1 | c.4936T>G (p.Cys1646Gly) c.4933T>G (p.Cys1645Gly) n.5019T>G | gnomAD v4 |
19 | g.38485592G>A | CA405652377 | RYR1 | c.4937G>A (p.Cys1646Tyr) c.4934G>A (p.Cys1645Tyr) n.5020G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485592G>C | CA405652378 | RYR1 | c.4937G>C (p.Cys1646Ser) c.4934G>C (p.Cys1645Ser) n.5020G>C | |
19 | g.38485592G= | CA2335046134 | RYR1 | c.4937G= (p.Cys1646=) c.4934G= (p.Cys1645=) n.5020G= | |
19 | g.38485592G>T | CA405652379 | RYR1 | c.4937G>T (p.Cys1646Phe) c.4934G>T (p.Cys1645Phe) n.5020G>T | gnomAD v4 |
19 | g.38485593C>A | CA405652381 | RYR1 | c.4938C>A (p.Cys1646Ter) c.4935C>A (p.Cys1645Ter) n.5021C>A | |
19 | g.38485593C>G | CA405652383 | RYR1 | c.4938C>G (p.Cys1646Trp) c.4935C>G (p.Cys1645Trp) n.5021C>G | |
19 | g.38485593C>T | CA507238178 | RYR1 | c.4938C>T (p.Cys1646=) c.4935C>T (p.Cys1645=) n.5021C>T | gnomAD v4 |
19 | g.38485594A= | CA2335046135 | RYR1 | c.4939A= (p.Met1647=) c.4936A= (p.Met1646=) n.5022A= | |
19 | g.38485594A>C | CA405652385 | RYR1 | c.4939A>C (p.Met1647Leu) c.4936A>C (p.Met1646Leu) n.5022A>C | |
19 | g.38485594A>G | CA405652388 | RYR1 | c.4939A>G (p.Met1647Val) c.4936A>G (p.Met1646Val) n.5022A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485594A>T | CA405652411 | RYR1 | c.4939A>T (p.Met1647Leu) c.4936A>T (p.Met1646Leu) n.5022A>T | |
19 | g.38485595T>A | CA405652422 | RYR1 | c.4940T>A (p.Met1647Lys) c.4937T>A (p.Met1646Lys) n.5023T>A | |
19 | g.38485595T>C | CA308092791 | RYR1 | c.4940T>C (p.Met1647Thr) c.4937T>C (p.Met1646Thr) n.5023T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485595T>G | CA405652430 | RYR1 | c.4940T>G (p.Met1647Arg) c.4937T>G (p.Met1646Arg) n.5023T>G | |
19 | g.38485595T= | CA2335046136 | RYR1 | c.4940T= (p.Met1647=) c.4937T= (p.Met1646=) n.5023T= | |
19 | g.38485596G>A | CA405652432 | RYR1 | c.4941G>A (p.Met1647Ile) c.4938G>A (p.Met1646Ile) n.5024G>A | |
19 | g.38485596G>C | CA405652436 | RYR1 | c.4941G>C (p.Met1647Ile) c.4938G>C (p.Met1646Ile) n.5024G>C | COSMIC |
19 | g.38485596G>T | CA405652441 | RYR1 | c.4941G>T (p.Met1647Ile) c.4938G>T (p.Met1646Ile) n.5024G>T | gnomAD v4 |
19 | g.38485597G>A | CA405652445 | RYR1 | c.4942G>A (p.Asp1648Asn) c.4939G>A (p.Asp1647Asn) n.5025G>A | |
19 | g.38485597G>C | CA405652447 | RYR1 | c.4942G>C (p.Asp1648His) c.4939G>C (p.Asp1647His) n.5025G>C | |
19 | g.38485597G>T | CA405652444 | RYR1 | c.4942G>T (p.Asp1648Tyr) c.4939G>T (p.Asp1647Tyr) n.5025G>T | gnomAD v4 |
19 | g.38485598A>C | CA405652457 | RYR1 | c.4943A>C (p.Asp1648Ala) c.4940A>C (p.Asp1647Ala) n.5026A>C | |
19 | g.38485598A>G | CA405652461 | RYR1 | c.4943A>G (p.Asp1648Gly) c.4940A>G (p.Asp1647Gly) n.5026A>G | |
19 | g.38485598A>T | CA405652462 | RYR1 | c.4943A>T (p.Asp1648Val) c.4940A>T (p.Asp1647Val) n.5026A>T | |
19 | g.38485599C>A | CA405652463 | RYR1 | c.4944C>A (p.Asp1648Glu) c.4941C>A (p.Asp1647Glu) n.5027C>A | gnomAD v4 |
19 | g.38485599C>G | CA405652465 | RYR1 | c.4944C>G (p.Asp1648Glu) c.4941C>G (p.Asp1647Glu) n.5027C>G | |
19 | g.38485599C>T | CA507238199 | RYR1 | c.4944C>T (p.Asp1648=) c.4941C>T (p.Asp1647=) n.5027C>T | |
19 | g.38485600A= | CA2335046137 | RYR1 | c.4945A= (p.Ile1649=) c.4942A= (p.Ile1648=) n.5028A= | |
19 | g.38485600A>C | CA405652468 | RYR1 | c.4945A>C (p.Ile1649Leu) c.4942A>C (p.Ile1648Leu) n.5028A>C | gnomAD v4 |
19 | g.38485600A>G | CA405652469 | RYR1 | c.4945A>G (p.Ile1649Val) c.4942A>G (p.Ile1648Val) n.5028A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485600A>T | CA405652471 | RYR1 | c.4945A>T (p.Ile1649Phe) c.4942A>T (p.Ile1648Phe) n.5028A>T | |
19 | g.38485601T>A | CA405652476 | RYR1 | c.4946T>A (p.Ile1649Asn) c.4943T>A (p.Ile1648Asn) n.5029T>A | |
19 | g.38485601T>C | CA405652478 | RYR1 | c.4946T>C (p.Ile1649Thr) c.4943T>C (p.Ile1648Thr) n.5029T>C | |
19 | g.38485601T>G | CA405652481 | RYR1 | c.4946T>G (p.Ile1649Ser) c.4943T>G (p.Ile1648Ser) n.5029T>G | |
19 | g.38485602C>A | CA507238210 | RYR1 | c.4947C>A (p.Ile1649=) c.4944C>A (p.Ile1648=) n.5030C>A | |
19 | g.38485602C>G | CA405652485 | RYR1 | c.4947C>G (p.Ile1649Met) c.4944C>G (p.Ile1648Met) n.5030C>G | |
19 | g.38485602C>T | CA507238214 | RYR1 | c.4947C>T (p.Ile1649=) c.4944C>T (p.Ile1648=) n.5030C>T | ClinVar |
19 | g.38485608_38485625dup | CA2695228660 | RYR1 | c.4953_4970dup (p.Leu1656_Asp1657insGluLeuSerGluArgLeu) c.4950_4967dup (p.Leu1655_Asp1656insGluLeuSerGluArgLeu) n.5036_5053dup | |
19 | g.38485603C>A | CA405652492 | RYR1 | c.4948C>A (p.Leu1650Met) c.4945C>A (p.Leu1649Met) n.5031C>A | COSMIC |
19 | g.38485603C>G | CA405652489 | RYR1 | c.4948C>G (p.Leu1650Val) c.4945C>G (p.Leu1649Val) n.5031C>G | |
19 | g.38485603C>T | CA507238220 | RYR1 | c.4948C>T (p.Leu1650=) c.4945C>T (p.Leu1649=) n.5031C>T | ClinVar gnomAD v4 |
19 | g.38485604T>A | CA405652496 | RYR1 | c.4949T>A (p.Leu1650Gln) c.4946T>A (p.Leu1649Gln) n.5032T>A | |
19 | g.38485604T>C | CA405652499 | RYR1 | c.4949T>C (p.Leu1650Pro) c.4946T>C (p.Leu1649Pro) n.5032T>C | ClinVar |
19 | g.38485604T>G | CA405652504 | RYR1 | c.4949T>G (p.Leu1650Arg) c.4946T>G (p.Leu1649Arg) n.5032T>G | |
19 | g.38485605G>A | CA066543 | RYR1 | c.4950G>A (p.Leu1650=) c.4947G>A (p.Leu1649=) n.5033G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485605G>C | CA507238229 | RYR1 | c.4950G>C (p.Leu1650=) c.4947G>C (p.Leu1649=) n.5033G>C | |
19 | g.38485605G= | CA2335046138 | RYR1 | c.4950G= (p.Leu1650=) c.4947G= (p.Leu1649=) n.5033G= | |
19 | g.38485605G>T | CA507238231 | RYR1 | c.4950G>T (p.Leu1650=) c.4947G>T (p.Leu1649=) n.5033G>T | gnomAD v4 |
19 | g.38485606del | CA2839636652 | RYR1 | c.4951del (p.Glu1651SerfsTer?) c.4948del (p.Glu1650SerfsTer?) n.5034del | |
19 | g.38485606G>A | CA405652511 | RYR1 | c.4951G>A (p.Glu1651Lys) c.4948G>A (p.Glu1650Lys) n.5034G>A | |
19 | g.38485606G>C | CA405652513 | RYR1 | c.4951G>C (p.Glu1651Gln) c.4948G>C (p.Glu1650Gln) n.5034G>C | |
19 | g.38485606G>T | CA405652515 | RYR1 | c.4951G>T (p.Glu1651Ter) c.4948G>T (p.Glu1650Ter) n.5034G>T | gnomAD v4 |
19 | g.38485607A>C | CA405652518 | RYR1 | c.4952A>C (p.Glu1651Ala) c.4949A>C (p.Glu1650Ala) n.5035A>C | |
19 | g.38485607A>G | CA405652519 | RYR1 | c.4952A>G (p.Glu1651Gly) c.4949A>G (p.Glu1650Gly) n.5035A>G | |
19 | g.38485607A>T | CA405652525 | RYR1 | c.4952A>T (p.Glu1651Val) c.4949A>T (p.Glu1650Val) n.5035A>T | |
19 | g.38485608G>A | CA066544 | RYR1 | c.4953G>A (p.Glu1651=) c.4950G>A (p.Glu1650=) n.5036G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485608G>C | CA405652533 | RYR1 | c.4953G>C (p.Glu1651Asp) c.4950G>C (p.Glu1650Asp) n.5036G>C | ClinVar dbSNP |
19 | g.38485608G= | CA2335046139 | RYR1 | c.4953G= (p.Glu1651=) c.4950G= (p.Glu1650=) n.5036G= | |
19 | g.38485608G>T | CA405652537 | RYR1 | c.4953G>T (p.Glu1651Asp) c.4950G>T (p.Glu1650Asp) n.5036G>T | gnomAD v4 |
19 | g.38485609C>A | CA405652539 | RYR1 | c.4954C>A (p.Leu1652Met) c.4951C>A (p.Leu1651Met) n.5037C>A | gnomAD v4 |
19 | g.38485609C>G | CA405652538 | RYR1 | c.4954C>G (p.Leu1652Val) c.4951C>G (p.Leu1651Val) n.5037C>G | |
19 | g.38485609C>T | CA507238249 | RYR1 | c.4954C>T (p.Leu1652=) c.4951C>T (p.Leu1651=) n.5037C>T | gnomAD v4 |
19 | g.38485612_38485629dup | CA995728852 | RYR1 | c.4957_4974dup (p.Leu1658_Gln1659insSerGluArgLeuAspLeu) c.4954_4971dup (p.Leu1657_Gln1658insSerGluArgLeuAspLeu) n.5040_5057dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485610T>A | CA405652541 | RYR1 | c.4955T>A (p.Leu1652Gln) c.4952T>A (p.Leu1651Gln) n.5038T>A | |
19 | g.38485610T>C | CA405652547 | RYR1 | c.4955T>C (p.Leu1652Pro) c.4952T>C (p.Leu1651Pro) n.5038T>C | |
19 | g.38485610T>G | CA405652544 | RYR1 | c.4955T>G (p.Leu1652Arg) c.4952T>G (p.Leu1651Arg) n.5038T>G | |
19 | g.38485611G>A | CA081674 | RYR1 | c.4956G>A (p.Leu1652=) c.4953G>A (p.Leu1651=) n.5039G>A | ClinVar gnomAD v4 |
19 | g.38485611G>C | CA507238257 | RYR1 | c.4956G>C (p.Leu1652=) c.4953G>C (p.Leu1651=) n.5039G>C | |
19 | g.38485611G>T | CA507238255 | RYR1 | c.4956G>T (p.Leu1652=) c.4953G>T (p.Leu1651=) n.5039G>T | gnomAD v4 |
19 | g.38485612T>A | CA405652560 | RYR1 | c.4957T>A (p.Ser1653Thr) c.4954T>A (p.Ser1652Thr) n.5040T>A | gnomAD v4 |
19 | g.38485612T>C | CA405652563 | RYR1 | c.4957T>C (p.Ser1653Pro) c.4954T>C (p.Ser1652Pro) n.5040T>C | gnomAD v4 |
19 | g.38485612T>G | CA405652573 | RYR1 | c.4957T>G (p.Ser1653Ala) c.4954T>G (p.Ser1652Ala) n.5040T>G | |
19 | g.38485613C>A | CA405652581 | RYR1 | c.4958C>A (p.Ser1653Ter) c.4955C>A (p.Ser1652Ter) n.5041C>A | gnomAD v4 |
19 | g.38485613C= | CA2335046140 | RYR1 | c.4958C= (p.Ser1653=) c.4955C= (p.Ser1652=) n.5041C= | |
19 | g.38485613C>G | CA405652585 | RYR1 | c.4958C>G (p.Ser1653Trp) c.4955C>G (p.Ser1652Trp) n.5041C>G | dbSNP |
19 | g.38485613C>T | CA308092804 | RYR1 | c.4958C>T (p.Ser1653Leu) c.4955C>T (p.Ser1652Leu) n.5041C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485614G>A | CA066547 | RYR1 | c.4959G>A (p.Ser1653=) c.4956G>A (p.Ser1652=) n.5042G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485614G>C | CA507238274 | RYR1 | c.4959G>C (p.Ser1653=) c.4956G>C (p.Ser1652=) n.5042G>C | |
19 | g.38485614G= | CA2335046141 | RYR1 | c.4959G= (p.Ser1653=) c.4956G= (p.Ser1652=) n.5042G= | |
19 | g.38485614G>T | CA507238276 | RYR1 | c.4959G>T (p.Ser1653=) c.4956G>T (p.Ser1652=) n.5042G>T | dbSNP gnomAD v4 |
19 | g.38485615G>A | CA405652606 | RYR1 | c.4960G>A (p.Glu1654Lys) c.4957G>A (p.Glu1653Lys) n.5043G>A | |
19 | g.38485615G>C | CA405652613 | RYR1 | c.4960G>C (p.Glu1654Gln) c.4957G>C (p.Glu1653Gln) n.5043G>C | gnomAD v4 |
19 | g.38485615G>T | CA405652617 | RYR1 | c.4960G>T (p.Glu1654Ter) c.4957G>T (p.Glu1653Ter) n.5043G>T | |
19 | g.38485616A>C | CA405652620 | RYR1 | c.4961A>C (p.Glu1654Ala) c.4958A>C (p.Glu1653Ala) n.5044A>C | |
19 | g.38485616A>G | CA405652624 | RYR1 | c.4961A>G (p.Glu1654Gly) c.4958A>G (p.Glu1653Gly) n.5044A>G | |
19 | g.38485616A>T | CA405652629 | RYR1 | c.4961A>T (p.Glu1654Val) c.4958A>T (p.Glu1653Val) n.5044A>T | |
19 | g.38485617G>A | CA081675 | RYR1 | c.4962G>A (p.Glu1654=) c.4959G>A (p.Glu1653=) n.5045G>A | |
19 | g.38485617G>C | CA405652641 | RYR1 | c.4962G>C (p.Glu1654Asp) c.4959G>C (p.Glu1653Asp) n.5045G>C | |
19 | g.38485617G>T | CA081663 | RYR1 | c.4962G>T (p.Glu1654Asp) c.4959G>T (p.Glu1653Asp) n.5045G>T | gnomAD v4 |
19 | g.38485618C>A | CA405652648 | RYR1 | c.4963C>A (p.Arg1655Ser) c.4960C>A (p.Arg1654Ser) n.5046C>A | ClinVar |
19 | g.38485618C= | CA2335046142 | RYR1 | c.4963C= (p.Arg1655=) c.4960C= (p.Arg1654=) n.5046C= | |
19 | g.38485618C>G | CA405652651 | RYR1 | c.4963C>G (p.Arg1655Gly) c.4960C>G (p.Arg1654Gly) n.5046C>G | gnomAD v4 |
19 | g.38485618C>T | CA066551 | RYR1 | c.4963C>T (p.Arg1655Cys) c.4960C>T (p.Arg1654Cys) n.5046C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485619G>A | CA066554 | RYR1 | c.4964G>A (p.Arg1655His) c.4961G>A (p.Arg1654His) n.5047G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38485619G>C | CA405652657 | RYR1 | c.4964G>C (p.Arg1655Pro) c.4961G>C (p.Arg1654Pro) n.5047G>C | |
19 | g.38485619G= | CA2335046143 | RYR1 | c.4964G= (p.Arg1655=) c.4961G= (p.Arg1654=) n.5047G= | |
19 | g.38485619G>T | CA405652662 | RYR1 | c.4964G>T (p.Arg1655Leu) c.4961G>T (p.Arg1654Leu) n.5047G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38485620C>A | CA507238300 | RYR1 | c.4965C>A (p.Arg1655=) c.4962C>A (p.Arg1654=) n.5048C>A | |
19 | g.38485620C>G | CA507238302 | RYR1 | c.4965C>G (p.Arg1655=) c.4962C>G (p.Arg1654=) n.5048C>G | |
19 | g.38485620C>T | CA507238304 | RYR1 | c.4965C>T (p.Arg1655=) c.4962C>T (p.Arg1654=) n.5048C>T | gnomAD v4 |
19 | g.38485621C>A | CA405652670 | RYR1 | c.4966C>A (p.Leu1656Met) c.4963C>A (p.Leu1655Met) n.5049C>A | gnomAD v4 |
19 | g.38485621C= | CA2335046144 | RYR1 | c.4966C= (p.Leu1656=) c.4963C= (p.Leu1655=) n.5049C= | |
19 | g.38485621C>G | CA405652668 | RYR1 | c.4966C>G (p.Leu1656Val) c.4963C>G (p.Leu1655Val) n.5049C>G | |
19 | g.38485621C>T | CA081676 | RYR1 | c.4966C>T (p.Leu1656=) c.4963C>T (p.Leu1655=) n.5049C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485622T>A | CA405652671 | RYR1 | c.4967T>A (p.Leu1656Gln) c.4964T>A (p.Leu1655Gln) n.5050T>A | gnomAD v4 |
19 | g.38485622T>C | CA405652673 | RYR1 | c.4967T>C (p.Leu1656Pro) c.4964T>C (p.Leu1655Pro) n.5050T>C | gnomAD v4 |
19 | g.38485622T>G | CA405652676 | RYR1 | c.4967T>G (p.Leu1656Arg) c.4964T>G (p.Leu1655Arg) n.5050T>G | |
19 | g.38485623G>A | CA507238315 | RYR1 | c.4968G>A (p.Leu1656=) c.4965G>A (p.Leu1655=) n.5051G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485623G>C | CA507238317 | RYR1 | c.4968G>C (p.Leu1656=) c.4965G>C (p.Leu1655=) n.5051G>C | |
19 | g.38485623G= | CA2335046145 | RYR1 | c.4968G= (p.Leu1656=) c.4965G= (p.Leu1655=) n.5051G= | |
19 | g.38485623G>T | CA507238319 | RYR1 | c.4968G>T (p.Leu1656=) c.4965G>T (p.Leu1655=) n.5051G>T | gnomAD v4 |
19 | g.38485624G>A | CA405652679 | RYR1 | c.4969G>A (p.Asp1657Asn) c.4966G>A (p.Asp1656Asn) n.5052G>A | |
19 | g.38485624G>C | CA405652689 | RYR1 | c.4969G>C (p.Asp1657His) c.4966G>C (p.Asp1656His) n.5052G>C | dbSNP |
19 | g.38485624G>T | CA405652704 | RYR1 | c.4969G>T (p.Asp1657Tyr) c.4966G>T (p.Asp1656Tyr) n.5052G>T | dbSNP gnomAD v4 |
19 | g.38485625A= | CA2335046146 | RYR1 | c.4970A= (p.Asp1657=) c.4967A= (p.Asp1656=) n.5053A= | |
19 | g.38485625A>C | CA066555 | RYR1 | c.4970A>C (p.Asp1657Ala) c.4967A>C (p.Asp1656Ala) n.5053A>C | dbSNP ExAC |
19 | g.38485625A>G | CA405652711 | RYR1 | c.4970A>G (p.Asp1657Gly) c.4967A>G (p.Asp1656Gly) n.5053A>G | gnomAD v4 |
19 | g.38485625A>T | CA405652709 | RYR1 | c.4970A>T (p.Asp1657Val) c.4967A>T (p.Asp1656Val) n.5053A>T | |
19 | g.38485626C>A | CA405652718 | RYR1 | c.4971C>A (p.Asp1657Glu) c.4968C>A (p.Asp1656Glu) n.5054C>A | |
19 | g.38485626C= | CA2335046147 | RYR1 | c.4971C= (p.Asp1657=) c.4968C= (p.Asp1656=) n.5054C= | |
19 | g.38485626C>G | CA405652721 | RYR1 | c.4971C>G (p.Asp1657Glu) c.4968C>G (p.Asp1656Glu) n.5054C>G | gnomAD v4 |
19 | g.38485626C>T | CA066559 | RYR1 | c.4971C>T (p.Asp1657=) c.4968C>T (p.Asp1656=) n.5054C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485627C>A | CA405652727 | RYR1 | c.4972C>A (p.Leu1658Met) c.4969C>A (p.Leu1657Met) n.5055C>A | |
19 | g.38485627C= | CA2335046148 | RYR1 | c.4972C= (p.Leu1658=) c.4969C= (p.Leu1657=) n.5055C= | |
19 | g.38485627C>G | CA405652730 | RYR1 | c.4972C>G (p.Leu1658Val) c.4969C>G (p.Leu1657Val) n.5055C>G | |
19 | g.38485627C>T | CA066562 | RYR1 | c.4972C>T (p.Leu1658=) c.4969C>T (p.Leu1657=) n.5055C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485627_38485634delinsCTGCAGCG | CA2335046149 | RYR1 | c.4972_4979delinsCTGCAGCG (p.Leu1658=) c.4969_4976delinsCTGCAGCG (p.Leu1657=) n.5055_5062delinsCTGCAGCG | |
19 | g.38485628T>A | CA405652747 | RYR1 | c.4973T>A (p.Leu1658Gln) c.4970T>A (p.Leu1657Gln) n.5056T>A | |
19 | g.38485628T>C | CA405652750 | RYR1 | c.4973T>C (p.Leu1658Pro) c.4970T>C (p.Leu1657Pro) n.5056T>C | |
19 | g.38485628T>G | CA405652755 | RYR1 | c.4973T>G (p.Leu1658Arg) c.4970T>G (p.Leu1657Arg) n.5056T>G | |
19 | g.38485628_38485634del | CA507238353 | RYR1 | c.4973_4979del (p.Leu1658ProfsTer29) c.4970_4976del (p.Leu1657ProfsTer29) n.5056_5062del | dbSNP |
19 | g.38485629G>A | CA507238354 | RYR1 | c.4974G>A (p.Leu1658=) c.4971G>A (p.Leu1657=) n.5057G>A | gnomAD v4 |
19 | g.38485629G>C | CA507238356 | RYR1 | c.4974G>C (p.Leu1658=) c.4971G>C (p.Leu1657=) n.5057G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485629G= | CA2335046150 | RYR1 | c.4974G= (p.Leu1658=) c.4971G= (p.Leu1657=) n.5057G= | |
19 | g.38485629G>T | CA507238361 | RYR1 | c.4974G>T (p.Leu1658=) c.4971G>T (p.Leu1657=) n.5057G>T | gnomAD v4 |
19 | g.38485629_38485635del | CA405652761 | RYR1 | c.4974_4980del (p.Gln1659SerfsTer28) c.4971_4977del (p.Gln1658SerfsTer28) n.5057_5063del | |
19 | g.38485630C>A | CA405652764 | RYR1 | c.4975C>A (p.Gln1659Lys) c.4972C>A (p.Gln1658Lys) n.5058C>A | gnomAD v4 |
19 | g.38485630C>G | CA405652768 | RYR1 | c.4975C>G (p.Gln1659Glu) c.4972C>G (p.Gln1658Glu) n.5058C>G | |
19 | g.38485630C>T | CA081680 | RYR1 | c.4975C>T (p.Gln1659Ter) c.4972C>T (p.Gln1658Ter) n.5058C>T | gnomAD v4 |
19 | g.38485631A= | CA2335046151 | RYR1 | c.4976A= (p.Gln1659=) c.4973A= (p.Gln1658=) n.5059A= | |
19 | g.38485631A>C | CA405652773 | RYR1 | c.4976A>C (p.Gln1659Pro) c.4973A>C (p.Gln1658Pro) n.5059A>C | |
19 | g.38485631A>G | CA066565 | RYR1 | c.4976A>G (p.Gln1659Arg) c.4973A>G (p.Gln1658Arg) n.5059A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485631A>T | CA405652771 | RYR1 | c.4976A>T (p.Gln1659Leu) c.4973A>T (p.Gln1658Leu) n.5059A>T | |
19 | g.38485632G>A | CA507238382 | RYR1 | c.4977G>A (p.Gln1659=) c.4974G>A (p.Gln1658=) n.5060G>A | gnomAD v4 COSMIC |
19 | g.38485632G>C | CA405652777 | RYR1 | c.4977G>C (p.Gln1659His) c.4974G>C (p.Gln1658His) n.5060G>C | |
19 | g.38485632G>T | CA405652786 | RYR1 | c.4977G>T (p.Gln1659His) c.4974G>T (p.Gln1658His) n.5060G>T | gnomAD v4 |
19 | g.38485633C>A | CA405652788 | RYR1 | c.4978C>A (p.Arg1660Ser) c.4975C>A (p.Arg1659Ser) n.5061C>A | gnomAD v4 COSMIC |
19 | g.38485633C= | CA2335046152 | RYR1 | c.4978C= (p.Arg1660=) c.4975C= (p.Arg1659=) n.5061C= | |
19 | g.38485633C>G | CA405652791 | RYR1 | c.4978C>G (p.Arg1660Gly) c.4975C>G (p.Arg1659Gly) n.5061C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485633C>T | CA405652794 | RYR1 | c.4978C>T (p.Arg1660Cys) c.4975C>T (p.Arg1659Cys) n.5061C>T | gnomAD v4 |
19 | g.38485634G>A | CA066568 | RYR1 | c.4979G>A (p.Arg1660His) c.4976G>A (p.Arg1659His) n.5062G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485634G>C | CA066571 | RYR1 | c.4979G>C (p.Arg1660Pro) c.4976G>C (p.Arg1659Pro) n.5062G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485634G= | CA2335046153 | RYR1 | c.4979G= (p.Arg1660=) c.4976G= (p.Arg1659=) n.5062G= | |
19 | g.38485634G>T | CA405652796 | RYR1 | c.4979G>T (p.Arg1660Leu) c.4976G>T (p.Arg1659Leu) n.5062G>T | gnomAD v4 COSMIC |
19 | g.38485635C>A | CA507238397 | RYR1 | c.4980C>A (p.Arg1660=) c.4977C>A (p.Arg1659=) n.5063C>A | |
19 | g.38485635C= | CA2335046154 | RYR1 | c.4980C= (p.Arg1660=) c.4977C= (p.Arg1659=) n.5063C= | |
19 | g.38485635C>G | CA507238399 | RYR1 | c.4980C>G (p.Arg1660=) c.4977C>G (p.Arg1659=) n.5063C>G | |
19 | g.38485635C>T | CA066575 | RYR1 | c.4980C>T (p.Arg1660=) c.4977C>T (p.Arg1659=) n.5063C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485636T>A | CA405652797 | RYR1 | c.4981T>A (p.Phe1661Ile) c.4978T>A (p.Phe1660Ile) n.5064T>A | |
19 | g.38485636T>C | CA405652799 | RYR1 | c.4981T>C (p.Phe1661Leu) c.4978T>C (p.Phe1660Leu) n.5064T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485636T>G | CA405652809 | RYR1 | c.4981T>G (p.Phe1661Val) c.4978T>G (p.Phe1660Val) n.5064T>G | |
19 | g.38485636T= | CA2335046155 | RYR1 | c.4981T= (p.Phe1661=) c.4978T= (p.Phe1660=) n.5064T= | |
19 | g.38485637T>A | CA405652812 | RYR1 | c.4982T>A (p.Phe1661Tyr) c.4979T>A (p.Phe1660Tyr) n.5065T>A | |
19 | g.38485637T>C | CA405652818 | RYR1 | c.4982T>C (p.Phe1661Ser) c.4979T>C (p.Phe1660Ser) n.5065T>C | |
19 | g.38485637T>G | CA405652815 | RYR1 | c.4982T>G (p.Phe1661Cys) c.4979T>G (p.Phe1660Cys) n.5065T>G | |
19 | g.38485638C>A | CA405652822 | RYR1 | c.4983C>A (p.Phe1661Leu) c.4980C>A (p.Phe1660Leu) n.5066C>A | |
19 | g.38485638C= | CA2335046156 | RYR1 | c.4983C= (p.Phe1661=) c.4980C= (p.Phe1660=) n.5066C= | |
19 | g.38485638C>G | CA405652827 | RYR1 | c.4983C>G (p.Phe1661Leu) c.4980C>G (p.Phe1660Leu) n.5066C>G | |
19 | g.38485638C>T | CA066577 | RYR1 | c.4983C>T (p.Phe1661=) c.4980C>T (p.Phe1660=) n.5066C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485639C>A | CA405652834 | RYR1 | c.4984C>A (p.His1662Asn) c.4981C>A (p.His1661Asn) n.5067C>A | |
19 | g.38485639C>G | CA405652838 | RYR1 | c.4984C>G (p.His1662Asp) c.4981C>G (p.His1661Asp) n.5067C>G | |
19 | g.38485639C>T | CA405652839 | RYR1 | c.4984C>T (p.His1662Tyr) c.4981C>T (p.His1661Tyr) n.5067C>T | |
19 | g.38485640A= | CA2335046157 | RYR1 | c.4985A= (p.His1662=) c.4982A= (p.His1661=) n.5068A= | |
19 | g.38485640A>C | CA405652843 | RYR1 | c.4985A>C (p.His1662Pro) c.4982A>C (p.His1661Pro) n.5068A>C | |
19 | g.38485640A>G | CA405652847 | RYR1 | c.4985A>G (p.His1662Arg) c.4982A>G (p.His1661Arg) n.5068A>G | ClinVar dbSNP |
19 | g.38485640A>T | CA405652849 | RYR1 | c.4985A>T (p.His1662Leu) c.4982A>T (p.His1661Leu) n.5068A>T | |
19 | g.38485641C>A | CA405652851 | RYR1 | c.4986C>A (p.His1662Gln) c.4983C>A (p.His1661Gln) n.5069C>A | |
19 | g.38485641C= | CA2335046158 | RYR1 | c.4986C= (p.His1662=) c.4983C= (p.His1661=) n.5069C= | |
19 | g.38485641C>G | CA405652855 | RYR1 | c.4986C>G (p.His1662Gln) c.4983C>G (p.His1661Gln) n.5069C>G | |
19 | g.38485641C>T | CA081664 | RYR1 | c.4986C>T (p.His1662=) c.4983C>T (p.His1661=) n.5069C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485642T>A | CA405652858 | RYR1 | c.4987T>A (p.Ser1663Thr) c.4984T>A (p.Ser1662Thr) n.5070T>A | |
19 | g.38485642T>C | CA405652861 | RYR1 | c.4987T>C (p.Ser1663Pro) c.4984T>C (p.Ser1662Pro) n.5070T>C | |
19 | g.38485642T>G | CA405652864 | RYR1 | c.4987T>G (p.Ser1663Ala) c.4984T>G (p.Ser1662Ala) n.5070T>G | dbSNP |
19 | g.38485642T= | CA2335046159 | RYR1 | c.4987T= (p.Ser1663=) c.4984T= (p.Ser1662=) n.5070T= | |
19 | g.38485643C>A | CA405652880 | RYR1 | c.4988C>A (p.Ser1663Ter) c.4985C>A (p.Ser1662Ter) n.5071C>A | gnomAD v4 |
19 | g.38485643C= | CA2335046160 | RYR1 | c.4988C= (p.Ser1663=) c.4985C= (p.Ser1662=) n.5071C= | |
19 | g.38485643C>G | CA405652874 | RYR1 | c.4988C>G (p.Ser1663Trp) c.4985C>G (p.Ser1662Trp) n.5071C>G | ClinVar dbSNP gnomAD v4 |
19 | g.38485643C>T | CA405652870 | RYR1 | c.4988C>T (p.Ser1663Leu) c.4985C>T (p.Ser1662Leu) n.5071C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485644G>A | CA308092900 | RYR1 | c.4989G>A (p.Ser1663=) c.4986G>A (p.Ser1662=) n.5072G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485644G>C | CA507238440 | RYR1 | c.4989G>C (p.Ser1663=) c.4986G>C (p.Ser1662=) n.5072G>C | |
19 | g.38485644G= | CA2335046161 | RYR1 | c.4989G= (p.Ser1663=) c.4986G= (p.Ser1662=) n.5072G= | |
19 | g.38485644G>T | CA507238437 | RYR1 | c.4989G>T (p.Ser1663=) c.4986G>T (p.Ser1662=) n.5072G>T | dbSNP gnomAD v4 |
19 | g.38485645C>A | CA405652888 | RYR1 | c.4990C>A (p.His1664Asn) c.4987C>A (p.His1663Asn) n.5073C>A | |
19 | g.38485645C= | CA2335046162 | RYR1 | c.4990C= (p.His1664=) c.4987C= (p.His1663=) n.5073C= | |
19 | g.38485645C>G | CA405652889 | RYR1 | c.4990C>G (p.His1664Asp) c.4987C>G (p.His1663Asp) n.5073C>G | |
19 | g.38485645C>T | CA405652890 | RYR1 | c.4990C>T (p.His1664Tyr) c.4987C>T (p.His1663Tyr) n.5073C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485646A= | CA2335046163 | RYR1 | c.4991A= (p.His1664=) c.4988A= (p.His1663=) n.5074A= | |
19 | g.38485646A>C | CA405652891 | RYR1 | c.4991A>C (p.His1664Pro) c.4988A>C (p.His1663Pro) n.5074A>C | |
19 | g.38485646A>G | CA405652892 | RYR1 | c.4991A>G (p.His1664Arg) c.4988A>G (p.His1663Arg) n.5074A>G | |
19 | g.38485646A>T | CA066579 | RYR1 | c.4991A>T (p.His1664Leu) c.4988A>T (p.His1663Leu) n.5074A>T | dbSNP ExAC gnomAD v2 |
19 | g.38485647C>A | CA405652895 | RYR1 | c.4992C>A (p.His1664Gln) c.4989C>A (p.His1663Gln) n.5075C>A | |
19 | g.38485647C>G | CA405652896 | RYR1 | c.4992C>G (p.His1664Gln) c.4989C>G (p.His1663Gln) n.5075C>G | gnomAD v4 |
19 | g.38485647C>T | CA507238450 | RYR1 | c.4992C>T (p.His1664=) c.4989C>T (p.His1663=) n.5075C>T | |
19 | g.38485648A= | CA2335046164 | RYR1 | c.4993A= (p.Thr1665=) c.4990A= (p.Thr1664=) n.5076A= | |
19 | g.38485648A>C | CA405652899 | RYR1 | c.4993A>C (p.Thr1665Pro) c.4990A>C (p.Thr1664Pro) n.5076A>C | dbSNP |
19 | g.38485648A>G | CA405652902 | RYR1 | c.4993A>G (p.Thr1665Ala) c.4990A>G (p.Thr1664Ala) n.5076A>G | |
19 | g.38485648A>T | CA405652906 | RYR1 | c.4993A>T (p.Thr1665Ser) c.4990A>T (p.Thr1664Ser) n.5076A>T | |
19 | g.38485649C>A | CA405652916 | RYR1 | c.4994C>A (p.Thr1665Asn) c.4991C>A (p.Thr1664Asn) n.5077C>A | gnomAD v4 |
19 | g.38485649C= | CA2335046165 | RYR1 | c.4994C= (p.Thr1665=) c.4991C= (p.Thr1664=) n.5077C= | |
19 | g.38485649C>G | CA405652914 | RYR1 | c.4994C>G (p.Thr1665Ser) c.4991C>G (p.Thr1664Ser) n.5077C>G | |
19 | g.38485649C>T | CA405652910 | RYR1 | c.4994C>T (p.Thr1665Ile) c.4991C>T (p.Thr1664Ile) n.5077C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485650C>A | CA507238452 | RYR1 | c.4995C>A (p.Thr1665=) c.4992C>A (p.Thr1664=) n.5078C>A | gnomAD v4 |
19 | g.38485650C>G | CA507238454 | RYR1 | c.4995C>G (p.Thr1665=) c.4992C>G (p.Thr1664=) n.5078C>G | ClinVar gnomAD v4 COSMIC |
19 | g.38485650C>T | CA507238453 | RYR1 | c.4995C>T (p.Thr1665=) c.4992C>T (p.Thr1664=) n.5078C>T | gnomAD v4 |
19 | g.38485651C>A | CA405652918 | RYR1 | c.4996C>A (p.Leu1666Met) c.4993C>A (p.Leu1665Met) n.5079C>A | dbSNP gnomAD v2 |
19 | g.38485651C= | CA2335046166 | RYR1 | c.4996C= (p.Leu1666=) c.4993C= (p.Leu1665=) n.5079C= | |
19 | g.38485651C>G | CA405652920 | RYR1 | c.4996C>G (p.Leu1666Val) c.4993C>G (p.Leu1665Val) n.5079C>G | gnomAD v4 |
19 | g.38485651C>T | CA507238458 | RYR1 | c.4996C>T (p.Leu1666=) c.4993C>T (p.Leu1665=) n.5079C>T | ClinVar gnomAD v4 |
19 | g.38485652T>A | CA405652922 | RYR1 | c.4997T>A (p.Leu1666Gln) c.4994T>A (p.Leu1665Gln) n.5080T>A | |
19 | g.38485652T>C | CA405652924 | RYR1 | c.4997T>C (p.Leu1666Pro) c.4994T>C (p.Leu1665Pro) n.5080T>C | gnomAD v4 |
19 | g.38485652T>G | CA405652925 | RYR1 | c.4997T>G (p.Leu1666Arg) c.4994T>G (p.Leu1665Arg) n.5080T>G | |
19 | g.38485653G>A | CA507238461 | RYR1 | c.4998G>A (p.Leu1666=) c.4995G>A (p.Leu1665=) n.5081G>A | dbSNP gnomAD v4 |
19 | g.38485653G>C | CA507238462 | RYR1 | c.4998G>C (p.Leu1666=) c.4995G>C (p.Leu1665=) n.5081G>C | |
19 | g.38485653G= | CA2335046167 | RYR1 | c.4998G= (p.Leu1666=) c.4995G= (p.Leu1665=) n.5081G= | |
19 | g.38485653G>T | CA507238464 | RYR1 | c.4998G>T (p.Leu1666=) c.4995G>T (p.Leu1665=) n.5081G>T | |
19 | g.38485654C>A | CA405652929 | RYR1 | c.4999C>A (p.Arg1667Ser) c.4996C>A (p.Arg1666Ser) n.5082C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485654C= | CA2335046168 | RYR1 | c.4999C= (p.Arg1667=) c.4996C= (p.Arg1666=) n.5082C= | |
19 | g.38485654C>G | CA405652932 | RYR1 | c.4999C>G (p.Arg1667Gly) c.4996C>G (p.Arg1666Gly) n.5082C>G | |
19 | g.38485654C>T | CA212170 | RYR1 | c.4999C>T (p.Arg1667Cys) c.4996C>T (p.Arg1666Cys) n.5082C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485654_38485681delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG | CA2335046169 | RYR1 | c.4999_5026delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1667=) c.4996_5023delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG (p.Arg1666=) n.5082_5109delinsCGCCTCTACCGCGCTGTGTGCGCCCTGG | |
19 | g.38485655G>A | CA066587 | RYR1 | c.5000G>A (p.Arg1667His) c.4997G>A (p.Arg1666His) n.5083G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485655G>C | CA405652938 | RYR1 | c.5000G>C (p.Arg1667Pro) c.4997G>C (p.Arg1666Pro) n.5083G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485655G= | CA2335046170 | RYR1 | c.5000G= (p.Arg1667=) c.4997G= (p.Arg1666=) n.5083G= | |
19 | g.38485655G>T | CA405652941 | RYR1 | c.5000G>T (p.Arg1667Leu) c.4997G>T (p.Arg1666Leu) n.5083G>T | gnomAD v4 |
19 | g.38485657_38485683del | CA9415806 | RYR1 | c.5002_5028del (p.Leu1668_Gly1676del) c.4999_5025del (p.Leu1667_Gly1675del) n.5085_5111del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485656C>A | CA507238471 | RYR1 | c.5001C>A (p.Arg1667=) c.4998C>A (p.Arg1666=) n.5084C>A | dbSNP |
19 | g.38485656C>G | CA507238474 | RYR1 | c.5001C>G (p.Arg1667=) c.4998C>G (p.Arg1666=) n.5084C>G | |
19 | g.38485656C>T | CA507238476 | RYR1 | c.5001C>T (p.Arg1667=) c.4998C>T (p.Arg1666=) n.5084C>T | |
19 | g.38485657C>A | CA405652963 | RYR1 | c.5002C>A (p.Leu1668Ile) c.4999C>A (p.Leu1667Ile) n.5085C>A | |
19 | g.38485657C= | CA2335046171 | RYR1 | c.5002C= (p.Leu1668=) c.4999C= (p.Leu1667=) n.5085C= | |
19 | g.38485657C>G | CA405652950 | RYR1 | c.5002C>G (p.Leu1668Val) c.4999C>G (p.Leu1667Val) n.5085C>G | gnomAD v4 |
19 | g.38485657C>T | CA405652946 | RYR1 | c.5002C>T (p.Leu1668Phe) c.4999C>T (p.Leu1667Phe) n.5085C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485658T>A | CA405652966 | RYR1 | c.5003T>A (p.Leu1668His) c.5000T>A (p.Leu1667His) n.5086T>A | |
19 | g.38485658T>C | CA405652977 | RYR1 | c.5003T>C (p.Leu1668Pro) c.5000T>C (p.Leu1667Pro) n.5086T>C | |
19 | g.38485658T>G | CA405652981 | RYR1 | c.5003T>G (p.Leu1668Arg) c.5000T>G (p.Leu1667Arg) n.5086T>G | |
19 | g.38485658_38485684del | CA081685 | RYR1 | c.5003_5029del (p.Leu1668_Asn1677delinsHis) c.5000_5026del (p.Leu1667_Asn1676delinsHis) n.5086_5112del | |
19 | g.38485659C>A | CA507238479 | RYR1 | c.5004C>A (p.Leu1668=) c.5001C>A (p.Leu1667=) n.5087C>A | gnomAD v4 |
19 | g.38485659C>G | CA507238480 | RYR1 | c.5004C>G (p.Leu1668=) c.5001C>G (p.Leu1667=) n.5087C>G | |
19 | g.38485659C>T | CA507238481 | RYR1 | c.5004C>T (p.Leu1668=) c.5001C>T (p.Leu1667=) n.5087C>T | gnomAD v4 |
19 | g.38485660T>A | CA405652989 | RYR1 | c.5005T>A (p.Tyr1669Asn) c.5002T>A (p.Tyr1668Asn) n.5088T>A | |
19 | g.38485660T>C | CA405652993 | RYR1 | c.5005T>C (p.Tyr1669His) c.5002T>C (p.Tyr1668His) n.5088T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38485660T>G | CA405653006 | RYR1 | c.5005T>G (p.Tyr1669Asp) c.5002T>G (p.Tyr1668Asp) n.5088T>G | |
19 | g.38485660T= | CA2335046172 | RYR1 | c.5005T= (p.Tyr1669=) c.5002T= (p.Tyr1668=) n.5088T= | |
19 | g.38485661A>C | CA405653008 | RYR1 | c.5006A>C (p.Tyr1669Ser) c.5003A>C (p.Tyr1668Ser) n.5089A>C | |
19 | g.38485661A>G | CA405653012 | RYR1 | c.5006A>G (p.Tyr1669Cys) c.5003A>G (p.Tyr1668Cys) n.5089A>G | gnomAD v4 |
19 | g.38485661A>T | CA405653014 | RYR1 | c.5006A>T (p.Tyr1669Phe) c.5003A>T (p.Tyr1668Phe) n.5089A>T | |
19 | g.38485661dup | CA2838527864 | RYR1 | c.5006dup (p.Tyr1669Ter) c.5003dup (p.Tyr1668Ter) n.5089dup | |
19 | g.38485662C>A | CA405653017 | RYR1 | c.5007C>A (p.Tyr1669Ter) c.5004C>A (p.Tyr1668Ter) n.5090C>A | |
19 | g.38485662C= | CA2335046173 | RYR1 | c.5007C= (p.Tyr1669=) c.5004C= (p.Tyr1668=) n.5090C= | |
19 | g.38485662C>G | CA405653020 | RYR1 | c.5007C>G (p.Tyr1669Ter) c.5004C>G (p.Tyr1668Ter) n.5090C>G | |
19 | g.38485662C>T | CA066590 | RYR1 | c.5007C>T (p.Tyr1669=) c.5004C>T (p.Tyr1668=) n.5090C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485662_38485663delinsAA | CA645615239 | RYR1 | c.5007_5008delinsAA (p.Tyr1669Ter) c.5004_5005delinsAA (p.Tyr1668Ter) n.5090_5091delinsAA | COSMIC |
19 | g.38485663C>A | CA405653027 | RYR1 | c.5008C>A (p.Arg1670Ser) c.5005C>A (p.Arg1669Ser) n.5091C>A | |
19 | g.38485663C= | CA2335046174 | RYR1 | c.5008C= (p.Arg1670=) c.5005C= (p.Arg1669=) n.5091C= | |
19 | g.38485663C>G | CA405653033 | RYR1 | c.5008C>G (p.Arg1670Gly) c.5005C>G (p.Arg1669Gly) n.5091C>G | |
19 | g.38485663C>T | CA405653030 | RYR1 | c.5008C>T (p.Arg1670Cys) c.5005C>T (p.Arg1669Cys) n.5091C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38485664G>A | CA405653037 | RYR1 | c.5009G>A (p.Arg1670His) c.5006G>A (p.Arg1669His) n.5092G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485664G>C | CA405653044 | RYR1 | c.5009G>C (p.Arg1670Pro) c.5006G>C (p.Arg1669Pro) n.5092G>C | |
19 | g.38485664G= | CA2335046175 | RYR1 | c.5009G= (p.Arg1670=) c.5006G= (p.Arg1669=) n.5092G= | |
19 | g.38485664G>T | CA405653039 | RYR1 | c.5009G>T (p.Arg1670Leu) c.5006G>T (p.Arg1669Leu) n.5092G>T | gnomAD v4 |
19 | g.38485665C>A | CA507238499 | RYR1 | c.5010C>A (p.Arg1670=) c.5007C>A (p.Arg1669=) n.5093C>A | |
19 | g.38485665C= | CA2335046176 | RYR1 | c.5010C= (p.Arg1670=) c.5007C= (p.Arg1669=) n.5093C= | |
19 | g.38485665C>G | CA066593 | RYR1 | c.5010C>G (p.Arg1670=) c.5007C>G (p.Arg1669=) n.5093C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485665C>T | CA066597 | RYR1 | c.5010C>T (p.Arg1670=) c.5007C>T (p.Arg1669=) n.5093C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38485666G>A | CA405653049 | RYR1 | c.5011G>A (p.Ala1671Thr) c.5008G>A (p.Ala1670Thr) n.5094G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.38485666G>C | CA405653055 | RYR1 | c.5011G>C (p.Ala1671Pro) c.5008G>C (p.Ala1670Pro) n.5094G>C | |
19 | g.38485666G= | CA2335046177 | RYR1 | c.5011G= (p.Ala1671=) c.5008G= (p.Ala1670=) n.5094G= | |
19 | g.38485666G>T | CA405653051 | RYR1 | c.5011G>T (p.Ala1671Ser) c.5008G>T (p.Ala1670Ser) n.5094G>T | ClinVar gnomAD v4 |
19 | g.38485667C>A | CA405653058 | RYR1 | c.5012C>A (p.Ala1671Asp) c.5009C>A (p.Ala1670Asp) n.5095C>A | gnomAD v4 |
19 | g.38485667C= | CA2335046178 | RYR1 | c.5012C= (p.Ala1671=) c.5009C= (p.Ala1670=) n.5095C= | |
19 | g.38485667C>G | CA405653067 | RYR1 | c.5012C>G (p.Ala1671Gly) c.5009C>G (p.Ala1670Gly) n.5095C>G | |
19 | g.38485667C>T | CA405653069 | RYR1 | c.5012C>T (p.Ala1671Val) c.5009C>T (p.Ala1670Val) n.5095C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485668T>A | CA507238506 | RYR1 | c.5013T>A (p.Ala1671=) c.5010T>A (p.Ala1670=) n.5096T>A | |
19 | g.38485668T>C | CA507238505 | RYR1 | c.5013T>C (p.Ala1671=) c.5010T>C (p.Ala1670=) n.5096T>C | |
19 | g.38485668T>G | CA507238504 | RYR1 | c.5013T>G (p.Ala1671=) c.5010T>G (p.Ala1670=) n.5096T>G | |
19 | g.38485669G>A | CA405653075 | RYR1 | c.5014G>A (p.Val1672Met) c.5011G>A (p.Val1671Met) n.5097G>A | |
19 | g.38485669G>C | CA405653077 | RYR1 | c.5014G>C (p.Val1672Leu) c.5011G>C (p.Val1671Leu) n.5097G>C | gnomAD v4 |
19 | g.38485669G>T | CA405653080 | RYR1 | c.5014G>T (p.Val1672Leu) c.5011G>T (p.Val1671Leu) n.5097G>T | gnomAD v4 |
19 | g.38485670T>A | CA405653082 | RYR1 | c.5015T>A (p.Val1672Glu) c.5012T>A (p.Val1671Glu) n.5098T>A | ClinVar |
19 | g.38485670T>C | CA405653086 | RYR1 | c.5015T>C (p.Val1672Ala) c.5012T>C (p.Val1671Ala) n.5098T>C | dbSNP gnomAD v2 |
19 | g.38485670T>G | CA405653087 | RYR1 | c.5015T>G (p.Val1672Gly) c.5012T>G (p.Val1671Gly) n.5098T>G | |
19 | g.38485670T= | CA2335046179 | RYR1 | c.5015T= (p.Val1672=) c.5012T= (p.Val1671=) n.5098T= | |
19 | g.38485671G>A | CA507238515 | RYR1 | c.5016G>A (p.Val1672=) c.5013G>A (p.Val1671=) n.5099G>A | |
19 | g.38485671G>C | CA507238516 | RYR1 | c.5016G>C (p.Val1672=) c.5013G>C (p.Val1671=) n.5099G>C | |
19 | g.38485671G>T | CA507238517 | RYR1 | c.5016G>T (p.Val1672=) c.5013G>T (p.Val1671=) n.5099G>T | |
19 | g.38485672T>A | CA405653091 | RYR1 | c.5017T>A (p.Cys1673Ser) c.5014T>A (p.Cys1672Ser) n.5100T>A | |
19 | g.38485672T>C | CA405653093 | RYR1 | c.5017T>C (p.Cys1673Arg) c.5014T>C (p.Cys1672Arg) n.5100T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485672T>G | CA405653094 | RYR1 | c.5017T>G (p.Cys1673Gly) c.5014T>G (p.Cys1672Gly) n.5100T>G | ClinVar gnomAD v4 |
19 | g.38485672T= | CA2335046180 | RYR1 | c.5017T= (p.Cys1673=) c.5014T= (p.Cys1672=) n.5100T= | |
19 | g.38485673G>A | CA405653107 | RYR1 | c.5018G>A (p.Cys1673Tyr) c.5015G>A (p.Cys1672Tyr) n.5101G>A | |
19 | g.38485673G>C | CA405653112 | RYR1 | c.5018G>C (p.Cys1673Ser) c.5015G>C (p.Cys1672Ser) n.5101G>C | |
19 | g.38485673G>T | CA405653109 | RYR1 | c.5018G>T (p.Cys1673Phe) c.5015G>T (p.Cys1672Phe) n.5101G>T | |
19 | g.38485674C>A | CA405653117 | RYR1 | c.5019C>A (p.Cys1673Ter) c.5016C>A (p.Cys1672Ter) n.5102C>A | |
19 | g.38485674C= | CA2335046181 | RYR1 | c.5019C= (p.Cys1673=) c.5016C= (p.Cys1672=) n.5102C= | |
19 | g.38485674C>G | CA405653121 | RYR1 | c.5019C>G (p.Cys1673Trp) c.5016C>G (p.Cys1672Trp) n.5102C>G | |
19 | g.38485674C>T | CA066602 | RYR1 | c.5019C>T (p.Cys1673=) c.5016C>T (p.Cys1672=) n.5102C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485675G>A | CA405653136 | RYR1 | c.5020G>A (p.Ala1674Thr) c.5017G>A (p.Ala1673Thr) n.5103G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38485675G>C | CA405653138 | RYR1 | c.5020G>C (p.Ala1674Pro) c.5017G>C (p.Ala1673Pro) n.5103G>C | |
19 | g.38485675G= | CA2335046182 | RYR1 | c.5020G= (p.Ala1674=) c.5017G= (p.Ala1673=) n.5103G= | |
19 | g.38485675G>T | CA405653142 | RYR1 | c.5020G>T (p.Ala1674Ser) c.5017G>T (p.Ala1673Ser) n.5103G>T | gnomAD v4 |
19 | g.38485676C>A | CA405653143 | RYR1 | c.5021C>A (p.Ala1674Asp) c.5018C>A (p.Ala1673Asp) n.5104C>A | gnomAD v4 |
19 | g.38485676C= | CA2335046183 | RYR1 | c.5021C= (p.Ala1674=) c.5018C= (p.Ala1673=) n.5104C= | |
19 | g.38485676C>G | CA405653144 | RYR1 | c.5021C>G (p.Ala1674Gly) c.5018C>G (p.Ala1673Gly) n.5104C>G | gnomAD v4 |
19 | g.38485676C>T | CA308092930 | RYR1 | c.5021C>T (p.Ala1674Val) c.5018C>T (p.Ala1673Val) n.5104C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485677C>A | CA507238532 | RYR1 | c.5022C>A (p.Ala1674=) c.5019C>A (p.Ala1673=) n.5105C>A | |
19 | g.38485677C= | CA2335046184 | RYR1 | c.5022C= (p.Ala1674=) c.5019C= (p.Ala1673=) n.5105C= | |
19 | g.38485677C>G | CA066605 | RYR1 | c.5022C>G (p.Ala1674=) c.5019C>G (p.Ala1673=) n.5105C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485677C>T | CA081690 | RYR1 | c.5022C>T (p.Ala1674=) c.5019C>T (p.Ala1673=) n.5105C>T | ClinVar |
19 | g.38485679_38485763del | CA2814345561 | RYR1 | c.5024_5108del (p.Leu1675GlnfsTer?) c.5021_5105del (p.Leu1674GlnfsTer?) n.5107_5191del | |
19 | g.38485678C>A | CA405653147 | RYR1 | c.5023C>A (p.Leu1675Met) c.5020C>A (p.Leu1674Met) n.5106C>A | gnomAD v4 |
19 | g.38485678C>G | CA405653156 | RYR1 | c.5023C>G (p.Leu1675Val) c.5020C>G (p.Leu1674Val) n.5106C>G | |
19 | g.38485678C>T | CA507238537 | RYR1 | c.5023C>T (p.Leu1675=) c.5020C>T (p.Leu1674=) n.5106C>T | |
19 | g.38485679T>A | CA405653160 | RYR1 | c.5024T>A (p.Leu1675Gln) c.5021T>A (p.Leu1674Gln) n.5107T>A | |
19 | g.38485679T>C | CA405653178 | RYR1 | c.5024T>C (p.Leu1675Pro) c.5021T>C (p.Leu1674Pro) n.5107T>C | ClinVar dbSNP |
19 | g.38485679T>G | CA405653181 | RYR1 | c.5024T>G (p.Leu1675Arg) c.5021T>G (p.Leu1674Arg) n.5107T>G | |
19 | g.38485680G>A | CA507238541 | RYR1 | c.5025G>A (p.Leu1675=) c.5022G>A (p.Leu1674=) n.5108G>A | dbSNP |
19 | g.38485680G>C | CA10651848 | RYR1 | c.5025G>C (p.Leu1675=) c.5022G>C (p.Leu1674=) n.5108G>C | ClinVar dbSNP gnomAD v4 |
19 | g.38485680G= | CA2335046185 | RYR1 | c.5025G= (p.Leu1675=) c.5022G= (p.Leu1674=) n.5108G= | |
19 | g.38485680G>T | CA507238543 | RYR1 | c.5025G>T (p.Leu1675=) c.5022G>T (p.Leu1674=) n.5108G>T | |
19 | g.38485681G>A | CA405653200 | RYR1 | c.5026G>A (p.Gly1676Ser) c.5023G>A (p.Gly1675Ser) n.5109G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38485681G>C | CA405653201 | RYR1 | c.5026G>C (p.Gly1676Arg) c.5023G>C (p.Gly1675Arg) n.5109G>C | |
19 | g.38485681G>T | CA405653202 | RYR1 | c.5026G>T (p.Gly1676Cys) c.5023G>T (p.Gly1675Cys) n.5109G>T | |
19 | g.38485682G>A | CA066607 | RYR1 | c.5027G>A (p.Gly1676Asp) c.5024G>A (p.Gly1675Asp) n.5110G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38485682G>C | CA405653204 | RYR1 | c.5027G>C (p.Gly1676Ala) c.5024G>C (p.Gly1675Ala) n.5110G>C | |
19 | g.38485682G= | CA2335046186 | RYR1 | c.5027G= (p.Gly1676=) c.5024G= (p.Gly1675=) n.5110G= | |
19 | g.38485682G>T | CA405653207 | RYR1 | c.5027G>T (p.Gly1676Val) c.5024G>T (p.Gly1675Val) n.5110G>T | gnomAD v4 |
19 | g.38485683C>A | CA507238547 | RYR1 | c.5028C>A (p.Gly1676=) c.5025C>A (p.Gly1675=) n.5111C>A | |
19 | g.38485683C>G | CA507238549 | RYR1 | c.5028C>G (p.Gly1676=) c.5025C>G (p.Gly1675=) n.5111C>G | |
19 | g.38485683C>T | CA507238551 | RYR1 | c.5028C>T (p.Gly1676=) c.5025C>T (p.Gly1675=) n.5111C>T | |
19 | g.38485684A>C | CA405653210 | RYR1 | c.5029A>C (p.Asn1677His) c.5026A>C (p.Asn1676His) n.5112A>C | |
19 | g.38485684A>G | CA405653213 | RYR1 | c.5029A>G (p.Asn1677Asp) c.5026A>G (p.Asn1676Asp) n.5112A>G | |
19 | g.38485684A>T | CA405653215 | RYR1 | c.5029A>T (p.Asn1677Tyr) c.5026A>T (p.Asn1676Tyr) n.5112A>T |