Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38565325G>A | CA405672881 | RYR1 | c.1401G>A c.1383G>A c.12991G>A (p.Ala4331Thr) c.12976G>A (p.Ala4326Thr) c.12973G>A (p.Ala4325Thr) c.12958G>A (p.Ala4320Thr) c.12988G>A (p.Ala4330Thr) | dbSNP gnomAD v4 |
19 | g.38565325G>C | CA405672883 | RYR1 | c.1401G>C c.1383G>C c.12991G>C (p.Ala4331Pro) c.12976G>C (p.Ala4326Pro) c.12973G>C (p.Ala4325Pro) c.12958G>C (p.Ala4320Pro) c.12988G>C (p.Ala4330Pro) | |
19 | g.38565325G= | CA2335084814 | RYR1 | c.1401G= c.1383G= c.12991G= (p.Ala4331=) c.12976G= (p.Ala4326=) c.12973G= (p.Ala4325=) c.12958G= (p.Ala4320=) c.12988G= (p.Ala4330=) | |
19 | g.38565325G>T | CA405672885 | RYR1 | c.1401G>T c.1383G>T c.12991G>T (p.Ala4331Ser) c.12976G>T (p.Ala4326Ser) c.12973G>T (p.Ala4325Ser) c.12958G>T (p.Ala4320Ser) c.12988G>T (p.Ala4330Ser) | |
19 | g.38565325_38565326insTG | CA995731646 | RYR1 | c.1401_1402insTG c.1383_1384insTG c.12991_12992insTG (p.Ala4331ValfsTer11) c.12976_12977insTG (p.Ala4326ValfsTer11) c.12973_12974insTG (p.Ala4325ValfsTer11) c.12958_12959insTG (p.Ala4320ValfsTer11) c.12988_12989insTG (p.Ala4330ValfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565327_38565340del | CA2576772102 | RYR1 | c.1403_1416del c.1385_1398del c.12993_13006del (p.Val4332LeufsTer?) c.12978_12991del (p.Val4327LeufsTer?) c.12975_12988del (p.Val4326LeufsTer?) c.12960_12973del (p.Val4321LeufsTer?) c.12990_13003del (p.Val4331LeufsTer?) | |
19 | g.38565331_38565354dup | CA2584909139 | RYR1 | c.1407_1430dup c.1389_1412dup c.12997_13020dup (p.Val4340_Thr4341insAlaAlaLeuLeuTrpAlaAlaVal) c.12982_13005dup (p.Val4335_Thr4336insAlaAlaLeuLeuTrpAlaAlaVal) c.12979_13002dup (p.Val4334_Thr4335insAlaAlaLeuLeuTrpAlaAlaVal) c.12964_12987dup (p.Val4329_Thr4330insAlaAlaLeuLeuTrpAlaAlaVal) c.12994_13017dup (p.Val4339_Thr4340insAlaAlaLeuLeuTrpAlaAlaVal) | gnomAD v4 |
19 | g.38565326C>A | CA405672888 | RYR1 | c.1402C>A c.1384C>A c.12992C>A (p.Ala4331Glu) c.12977C>A (p.Ala4326Glu) c.12974C>A (p.Ala4325Glu) c.12959C>A (p.Ala4320Glu) c.12989C>A (p.Ala4330Glu) | |
19 | g.38565326C>G | CA405672891 | RYR1 | c.1402C>G c.1384C>G c.12992C>G (p.Ala4331Gly) c.12977C>G (p.Ala4326Gly) c.12974C>G (p.Ala4325Gly) c.12959C>G (p.Ala4320Gly) c.12989C>G (p.Ala4330Gly) | |
19 | g.38565326C>T | CA405672892 | RYR1 | c.1402C>T c.1384C>T c.12992C>T (p.Ala4331Val) c.12977C>T (p.Ala4326Val) c.12974C>T (p.Ala4325Val) c.12959C>T (p.Ala4320Val) c.12989C>T (p.Ala4330Val) | ClinVar |
19 | g.38565327A>C | CA507355749 | RYR1 | c.1403A>C c.1385A>C c.12993A>C (p.Ala4331=) c.12978A>C (p.Ala4326=) c.12975A>C (p.Ala4325=) c.12960A>C (p.Ala4320=) c.12990A>C (p.Ala4330=) | |
19 | g.38565327A>G | CA507355750 | RYR1 | c.1403A>G c.1385A>G c.12993A>G (p.Ala4331=) c.12978A>G (p.Ala4326=) c.12975A>G (p.Ala4325=) c.12960A>G (p.Ala4320=) c.12990A>G (p.Ala4330=) | |
19 | g.38565327A>T | CA507355752 | RYR1 | c.1403A>T c.1385A>T c.12993A>T (p.Ala4331=) c.12978A>T (p.Ala4326=) c.12975A>T (p.Ala4325=) c.12960A>T (p.Ala4320=) c.12990A>T (p.Ala4330=) | ClinVar |
19 | g.38565328G>A | CA405672893 | RYR1 | c.1404G>A c.1386G>A c.12994G>A (p.Val4332Met) c.12979G>A (p.Val4327Met) c.12976G>A (p.Val4326Met) c.12961G>A (p.Val4321Met) c.12991G>A (p.Val4331Met) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565328G>C | CA405672894 | RYR1 | c.1404G>C c.1386G>C c.12994G>C (p.Val4332Leu) c.12979G>C (p.Val4327Leu) c.12976G>C (p.Val4326Leu) c.12961G>C (p.Val4321Leu) c.12991G>C (p.Val4331Leu) | |
19 | g.38565328G= | CA2335084815 | RYR1 | c.1404G= c.1386G= c.12994G= (p.Val4332=) c.12979G= (p.Val4327=) c.12976G= (p.Val4326=) c.12961G= (p.Val4321=) c.12991G= (p.Val4331=) | |
19 | g.38565328G>T | CA405672895 | RYR1 | c.1404G>T c.1386G>T c.12994G>T (p.Val4332Leu) c.12979G>T (p.Val4327Leu) c.12976G>T (p.Val4326Leu) c.12961G>T (p.Val4321Leu) c.12991G>T (p.Val4331Leu) | |
19 | g.38565329T>A | CA405672900 | RYR1 | c.1405T>A c.1387T>A c.12995T>A (p.Val4332Glu) c.12980T>A (p.Val4327Glu) c.12977T>A (p.Val4326Glu) c.12962T>A (p.Val4321Glu) c.12992T>A (p.Val4331Glu) | |
19 | g.38565329T>C | CA405672898 | RYR1 | c.1405T>C c.1387T>C c.12995T>C (p.Val4332Ala) c.12980T>C (p.Val4327Ala) c.12977T>C (p.Val4326Ala) c.12962T>C (p.Val4321Ala) c.12992T>C (p.Val4331Ala) | |
19 | g.38565329T>G | CA405672897 | RYR1 | c.1405T>G c.1387T>G c.12995T>G (p.Val4332Gly) c.12980T>G (p.Val4327Gly) c.12977T>G (p.Val4326Gly) c.12962T>G (p.Val4321Gly) c.12992T>G (p.Val4331Gly) | |
19 | g.38565330G>A | CA507355756 | RYR1 | c.1406G>A c.1388G>A c.12996G>A (p.Val4332=) c.12981G>A (p.Val4327=) c.12978G>A (p.Val4326=) c.12963G>A (p.Val4321=) c.12993G>A (p.Val4331=) | |
19 | g.38565330G>C | CA507355755 | RYR1 | c.1406G>C c.1388G>C c.12996G>C (p.Val4332=) c.12981G>C (p.Val4327=) c.12978G>C (p.Val4326=) c.12963G>C (p.Val4321=) c.12993G>C (p.Val4331=) | |
19 | g.38565330G>T | CA507355754 | RYR1 | c.1406G>T c.1388G>T c.12996G>T (p.Val4332=) c.12981G>T (p.Val4327=) c.12978G>T (p.Val4326=) c.12963G>T (p.Val4321=) c.12993G>T (p.Val4331=) | |
19 | g.38565331G>A | CA405672903 | RYR1 | c.1407G>A c.1389G>A c.12997G>A (p.Ala4333Thr) c.12982G>A (p.Ala4328Thr) c.12979G>A (p.Ala4327Thr) c.12964G>A (p.Ala4322Thr) c.12994G>A (p.Ala4332Thr) | |
19 | g.38565331G>C | CA405672906 | RYR1 | c.1407G>C c.1389G>C c.12997G>C (p.Ala4333Pro) c.12982G>C (p.Ala4328Pro) c.12979G>C (p.Ala4327Pro) c.12964G>C (p.Ala4322Pro) c.12994G>C (p.Ala4332Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565331G= | CA2335084816 | RYR1 | c.1407G= c.1389G= c.12997G= (p.Ala4333=) c.12982G= (p.Ala4328=) c.12979G= (p.Ala4327=) c.12964G= (p.Ala4322=) c.12994G= (p.Ala4332=) | |
19 | g.38565331G>T | CA405672908 | RYR1 | c.1407G>T c.1389G>T c.12997G>T (p.Ala4333Ser) c.12982G>T (p.Ala4328Ser) c.12979G>T (p.Ala4327Ser) c.12964G>T (p.Ala4322Ser) c.12994G>T (p.Ala4332Ser) | |
19 | g.38565332C>A | CA405672910 | RYR1 | c.1408C>A c.1390C>A c.12998C>A (p.Ala4333Glu) c.12983C>A (p.Ala4328Glu) c.12980C>A (p.Ala4327Glu) c.12965C>A (p.Ala4322Glu) c.12995C>A (p.Ala4332Glu) | |
19 | g.38565332C>G | CA405672914 | RYR1 | c.1408C>G c.1390C>G c.12998C>G (p.Ala4333Gly) c.12983C>G (p.Ala4328Gly) c.12980C>G (p.Ala4327Gly) c.12965C>G (p.Ala4322Gly) c.12995C>G (p.Ala4332Gly) | |
19 | g.38565332C>T | CA405672917 | RYR1 | c.1408C>T c.1390C>T c.12998C>T (p.Ala4333Val) c.12983C>T (p.Ala4328Val) c.12980C>T (p.Ala4327Val) c.12965C>T (p.Ala4322Val) c.12995C>T (p.Ala4332Val) | gnomAD v4 |
19 | g.38565333G>A | CA507355757 | RYR1 | c.1409G>A c.1391G>A c.12999G>A (p.Ala4333=) c.12984G>A (p.Ala4328=) c.12981G>A (p.Ala4327=) c.12966G>A (p.Ala4322=) c.12996G>A (p.Ala4332=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565333G>C | CA507355758 | RYR1 | c.1409G>C c.1391G>C c.12999G>C (p.Ala4333=) c.12984G>C (p.Ala4328=) c.12981G>C (p.Ala4327=) c.12966G>C (p.Ala4322=) c.12996G>C (p.Ala4332=) | dbSNP |
19 | g.38565333G= | CA2335084817 | RYR1 | c.1409G= c.1391G= c.12999G= (p.Ala4333=) c.12984G= (p.Ala4328=) c.12981G= (p.Ala4327=) c.12966G= (p.Ala4322=) c.12996G= (p.Ala4332=) | |
19 | g.38565333G>T | CA507355760 | RYR1 | c.1409G>T c.1391G>T c.12999G>T (p.Ala4333=) c.12984G>T (p.Ala4328=) c.12981G>T (p.Ala4327=) c.12966G>T (p.Ala4322=) c.12996G>T (p.Ala4332=) | |
19 | g.38565334G>A | CA405672920 | RYR1 | c.1410G>A c.1392G>A c.13000G>A (p.Ala4334Thr) c.12985G>A (p.Ala4329Thr) c.12982G>A (p.Ala4328Thr) c.12967G>A (p.Ala4323Thr) c.12997G>A (p.Ala4333Thr) | dbSNP gnomAD v4 |
19 | g.38565334G>C | CA405672921 | RYR1 | c.1410G>C c.1392G>C c.13000G>C (p.Ala4334Pro) c.12985G>C (p.Ala4329Pro) c.12982G>C (p.Ala4328Pro) c.12967G>C (p.Ala4323Pro) c.12997G>C (p.Ala4333Pro) | |
19 | g.38565334G= | CA2335084818 | RYR1 | c.1410G= c.1392G= c.13000G= (p.Ala4334=) c.12985G= (p.Ala4329=) c.12982G= (p.Ala4328=) c.12967G= (p.Ala4323=) c.12997G= (p.Ala4333=) | |
19 | g.38565334G>T | CA405672923 | RYR1 | c.1410G>T c.1392G>T c.13000G>T (p.Ala4334Ser) c.12985G>T (p.Ala4329Ser) c.12982G>T (p.Ala4328Ser) c.12967G>T (p.Ala4323Ser) c.12997G>T (p.Ala4333Ser) | |
19 | g.38565335C>A | CA405672924 | RYR1 | c.1411C>A c.1393C>A c.13001C>A (p.Ala4334Glu) c.12986C>A (p.Ala4329Glu) c.12983C>A (p.Ala4328Glu) c.12968C>A (p.Ala4323Glu) c.12998C>A (p.Ala4333Glu) | |
19 | g.38565335C>G | CA405672925 | RYR1 | c.1411C>G c.1393C>G c.13001C>G (p.Ala4334Gly) c.12986C>G (p.Ala4329Gly) c.12983C>G (p.Ala4328Gly) c.12968C>G (p.Ala4323Gly) c.12998C>G (p.Ala4333Gly) | dbSNP gnomAD v4 |
19 | g.38565335C>T | CA405672928 | RYR1 | c.1411C>T c.1393C>T c.13001C>T (p.Ala4334Val) c.12986C>T (p.Ala4329Val) c.12983C>T (p.Ala4328Val) c.12968C>T (p.Ala4323Val) c.12998C>T (p.Ala4333Val) | gnomAD v4 |
19 | g.38565336G>A | CA507355762 | RYR1 | c.1412G>A c.1394G>A c.13002G>A (p.Ala4334=) c.12987G>A (p.Ala4329=) c.12984G>A (p.Ala4328=) c.12969G>A (p.Ala4323=) c.12999G>A (p.Ala4333=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565336G>C | CA507355764 | RYR1 | c.1412G>C c.1394G>C c.13002G>C (p.Ala4334=) c.12987G>C (p.Ala4329=) c.12984G>C (p.Ala4328=) c.12969G>C (p.Ala4323=) c.12999G>C (p.Ala4333=) | |
19 | g.38565336G= | CA2335084819 | RYR1 | c.1412G= c.1394G= c.13002G= (p.Ala4334=) c.12987G= (p.Ala4329=) c.12984G= (p.Ala4328=) c.12969G= (p.Ala4323=) c.12999G= (p.Ala4333=) | |
19 | g.38565336G>T | CA507355763 | RYR1 | c.1412G>T c.1394G>T c.13002G>T (p.Ala4334=) c.12987G>T (p.Ala4329=) c.12984G>T (p.Ala4328=) c.12969G>T (p.Ala4323=) c.12999G>T (p.Ala4333=) | gnomAD v4 |
19 | g.38565337C>A | CA405672933 | RYR1 | c.1413C>A c.1395C>A c.13003C>A (p.Leu4335Met) c.12988C>A (p.Leu4330Met) c.12985C>A (p.Leu4329Met) c.12970C>A (p.Leu4324Met) c.13000C>A (p.Leu4334Met) | |
19 | g.38565337C>G | CA405672931 | RYR1 | c.1413C>G c.1395C>G c.13003C>G (p.Leu4335Val) c.12988C>G (p.Leu4330Val) c.12985C>G (p.Leu4329Val) c.12970C>G (p.Leu4324Val) c.13000C>G (p.Leu4334Val) | |
19 | g.38565337C>T | CA507355765 | RYR1 | c.1413C>T c.1395C>T c.13003C>T (p.Leu4335=) c.12988C>T (p.Leu4330=) c.12985C>T (p.Leu4329=) c.12970C>T (p.Leu4324=) c.13000C>T (p.Leu4334=) | |
19 | g.38565347_38565412del | CA2814346185 | RYR1 | c.1423_1488del c.1405_1470del c.13013_13078del (p.Ala4338_Trp4359del) c.12998_13063del (p.Ala4333_Trp4354del) c.12995_13060del (p.Ala4332_Trp4353del) c.12980_13045del (p.Ala4327_Trp4348del) c.13010_13075del (p.Ala4337_Trp4358del) | |
19 | g.38565338T>A | CA405672935 | RYR1 | c.1414T>A c.1396T>A c.13004T>A (p.Leu4335Gln) c.12989T>A (p.Leu4330Gln) c.12986T>A (p.Leu4329Gln) c.12971T>A (p.Leu4324Gln) c.13001T>A (p.Leu4334Gln) | |
19 | g.38565338T>C | CA405672940 | RYR1 | c.1414T>C c.1396T>C c.13004T>C (p.Leu4335Pro) c.12989T>C (p.Leu4330Pro) c.12986T>C (p.Leu4329Pro) c.12971T>C (p.Leu4324Pro) c.13001T>C (p.Leu4334Pro) | |
19 | g.38565338T>G | CA405672938 | RYR1 | c.1414T>G c.1396T>G c.13004T>G (p.Leu4335Arg) c.12989T>G (p.Leu4330Arg) c.12986T>G (p.Leu4329Arg) c.12971T>G (p.Leu4324Arg) c.13001T>G (p.Leu4334Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565338T= | CA2335084820 | RYR1 | c.1414T= c.1396T= c.13004T= (p.Leu4335=) c.12989T= (p.Leu4330=) c.12986T= (p.Leu4329=) c.12971T= (p.Leu4324=) c.13001T= (p.Leu4334=) | |
19 | g.38565339G>A | CA507355767 | RYR1 | c.1415G>A c.1397G>A c.13005G>A (p.Leu4335=) c.12990G>A (p.Leu4330=) c.12987G>A (p.Leu4329=) c.12972G>A (p.Leu4324=) c.13002G>A (p.Leu4334=) | gnomAD v4 |
19 | g.38565339G>C | CA507355768 | RYR1 | c.1415G>C c.1397G>C c.13005G>C (p.Leu4335=) c.12990G>C (p.Leu4330=) c.12987G>C (p.Leu4329=) c.12972G>C (p.Leu4324=) c.13002G>C (p.Leu4334=) | ClinVar |
19 | g.38565339G>T | CA507355769 | RYR1 | c.1415G>T c.1397G>T c.13005G>T (p.Leu4335=) c.12990G>T (p.Leu4330=) c.12987G>T (p.Leu4329=) c.12972G>T (p.Leu4324=) c.13002G>T (p.Leu4334=) | gnomAD v4 |
19 | g.38565340C>A | CA405672942 | RYR1 | c.1416C>A c.1398C>A c.13006C>A (p.Leu4336Ile) c.12991C>A (p.Leu4331Ile) c.12988C>A (p.Leu4330Ile) c.12973C>A (p.Leu4325Ile) c.13003C>A (p.Leu4335Ile) | |
19 | g.38565340C>G | CA405672952 | RYR1 | c.1416C>G c.1398C>G c.13006C>G (p.Leu4336Val) c.12991C>G (p.Leu4331Val) c.12988C>G (p.Leu4330Val) c.12973C>G (p.Leu4325Val) c.13003C>G (p.Leu4335Val) | |
19 | g.38565340C>T | CA405672950 | RYR1 | c.1416C>T c.1398C>T c.13006C>T (p.Leu4336Phe) c.12991C>T (p.Leu4331Phe) c.12988C>T (p.Leu4330Phe) c.12973C>T (p.Leu4325Phe) c.13003C>T (p.Leu4335Phe) | gnomAD v4 |
19 | g.38565341T>A | CA405672954 | RYR1 | c.1417T>A c.1399T>A c.13007T>A (p.Leu4336His) c.12992T>A (p.Leu4331His) c.12989T>A (p.Leu4330His) c.12974T>A (p.Leu4325His) c.13004T>A (p.Leu4335His) | |
19 | g.38565341T>C | CA405672969 | RYR1 | c.1417T>C c.1399T>C c.13007T>C (p.Leu4336Pro) c.12992T>C (p.Leu4331Pro) c.12989T>C (p.Leu4330Pro) c.12974T>C (p.Leu4325Pro) c.13004T>C (p.Leu4335Pro) | |
19 | g.38565341T>G | CA405672965 | RYR1 | c.1417T>G c.1399T>G c.13007T>G (p.Leu4336Arg) c.12992T>G (p.Leu4331Arg) c.12989T>G (p.Leu4330Arg) c.12974T>G (p.Leu4325Arg) c.13004T>G (p.Leu4335Arg) | |
19 | g.38565341_38565361delinsTCTGGGCAGCAGTGACGCGCG | CA2335084821 | RYR1 | c.1417_1437delinsTCTGGGCAGCAGTGACGCGCG c.1399_1419delinsTCTGGGCAGCAGTGACGCGCG c.13007_13027delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4336=) c.12992_13012delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4331=) c.12989_13009delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4330=) c.12974_12994delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4325=) c.13004_13024delinsTCTGGGCAGCAGTGACGCGCG (p.Leu4335=) | |
19 | g.38565342C>A | CA507355773 | RYR1 | c.1418C>A c.1400C>A c.13008C>A (p.Leu4336=) c.12993C>A (p.Leu4331=) c.12990C>A (p.Leu4330=) c.12975C>A (p.Leu4325=) c.13005C>A (p.Leu4335=) | |
19 | g.38565342C= | CA2335084822 | RYR1 | c.1418C= c.1400C= c.13008C= (p.Leu4336=) c.12993C= (p.Leu4331=) c.12990C= (p.Leu4330=) c.12975C= (p.Leu4325=) c.13005C= (p.Leu4335=) | |
19 | g.38565342C>G | CA507355775 | RYR1 | c.1418C>G c.1400C>G c.13008C>G (p.Leu4336=) c.12993C>G (p.Leu4331=) c.12990C>G (p.Leu4330=) c.12975C>G (p.Leu4325=) c.13005C>G (p.Leu4335=) | gnomAD v4 |
19 | g.38565342C>T | CA507355774 | RYR1 | c.1418C>T c.1400C>T c.13008C>T (p.Leu4336=) c.12993C>T (p.Leu4331=) c.12990C>T (p.Leu4330=) c.12975C>T (p.Leu4325=) c.13005C>T (p.Leu4335=) | dbSNP |
19 | g.38565347_38565366del | CA024029 | RYR1 | c.1423_1442del c.1405_1424del c.13013_13032del (p.Ala4338GlyfsTer?) c.12998_13017del (p.Ala4333GlyfsTer?) c.12995_13014del (p.Ala4332GlyfsTer?) c.12980_12999del (p.Ala4327GlyfsTer?) c.13010_13029del (p.Ala4337GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
19 | g.38565343T>A | CA405672975 | RYR1 | c.1419T>A c.1401T>A c.13009T>A (p.Trp4337Arg) c.12994T>A (p.Trp4332Arg) c.12991T>A (p.Trp4331Arg) c.12976T>A (p.Trp4326Arg) c.13006T>A (p.Trp4336Arg) | gnomAD v4 |
19 | g.38565343T>C | CA405672978 | RYR1 | c.1419T>C c.1401T>C c.13009T>C (p.Trp4337Arg) c.12994T>C (p.Trp4332Arg) c.12991T>C (p.Trp4331Arg) c.12976T>C (p.Trp4326Arg) c.13006T>C (p.Trp4336Arg) | |
19 | g.38565343T>G | CA405672980 | RYR1 | c.1419T>G c.1401T>G c.13009T>G (p.Trp4337Gly) c.12994T>G (p.Trp4332Gly) c.12991T>G (p.Trp4331Gly) c.12976T>G (p.Trp4326Gly) c.13006T>G (p.Trp4336Gly) | |
19 | g.38565344G>A | CA405672984 | RYR1 | c.1420G>A c.1402G>A c.13010G>A (p.Trp4337Ter) c.12995G>A (p.Trp4332Ter) c.12992G>A (p.Trp4331Ter) c.12977G>A (p.Trp4326Ter) c.13007G>A (p.Trp4336Ter) | |
19 | g.38565344G>C | CA405672987 | RYR1 | c.1420G>C c.1402G>C c.13010G>C (p.Trp4337Ser) c.12995G>C (p.Trp4332Ser) c.12992G>C (p.Trp4331Ser) c.12977G>C (p.Trp4326Ser) c.13007G>C (p.Trp4336Ser) | |
19 | g.38565344G>T | CA405672990 | RYR1 | c.1420G>T c.1402G>T c.13010G>T (p.Trp4337Leu) c.12995G>T (p.Trp4332Leu) c.12992G>T (p.Trp4331Leu) c.12977G>T (p.Trp4326Leu) c.13007G>T (p.Trp4336Leu) | |
19 | g.38565346del | CA2573156324 | RYR1 | c.1422del c.1404del c.13012del (p.Ala4338GlnfsTer3) c.12997del (p.Ala4333GlnfsTer3) c.12994del (p.Ala4332GlnfsTer3) c.12979del (p.Ala4327GlnfsTer3) c.13009del (p.Ala4337GlnfsTer3) | ClinVar dbSNP |
19 | g.38565345G>A | CA405672991 | RYR1 | c.1421G>A c.1403G>A c.13011G>A (p.Trp4337Ter) c.12996G>A (p.Trp4332Ter) c.12993G>A (p.Trp4331Ter) c.12978G>A (p.Trp4326Ter) c.13008G>A (p.Trp4336Ter) | ClinVar gnomAD v4 |
19 | g.38565345G>C | CA405672993 | RYR1 | c.1421G>C c.1403G>C c.13011G>C (p.Trp4337Cys) c.12996G>C (p.Trp4332Cys) c.12993G>C (p.Trp4331Cys) c.12978G>C (p.Trp4326Cys) c.13008G>C (p.Trp4336Cys) | |
19 | g.38565345G>T | CA405672994 | RYR1 | c.1421G>T c.1403G>T c.13011G>T (p.Trp4337Cys) c.12996G>T (p.Trp4332Cys) c.12993G>T (p.Trp4331Cys) c.12978G>T (p.Trp4326Cys) c.13008G>T (p.Trp4336Cys) | gnomAD v4 |
19 | g.38565346G>A | CA405672999 | RYR1 | c.1422G>A c.1404G>A c.13012G>A (p.Ala4338Thr) c.12997G>A (p.Ala4333Thr) c.12994G>A (p.Ala4332Thr) c.12979G>A (p.Ala4327Thr) c.13009G>A (p.Ala4337Thr) | |
19 | g.38565346G>C | CA405672996 | RYR1 | c.1422G>C c.1404G>C c.13012G>C (p.Ala4338Pro) c.12997G>C (p.Ala4333Pro) c.12994G>C (p.Ala4332Pro) c.12979G>C (p.Ala4327Pro) c.13009G>C (p.Ala4337Pro) | gnomAD v4 |
19 | g.38565346G>T | CA405672995 | RYR1 | c.1422G>T c.1404G>T c.13012G>T (p.Ala4338Ser) c.12997G>T (p.Ala4333Ser) c.12994G>T (p.Ala4332Ser) c.12979G>T (p.Ala4327Ser) c.13009G>T (p.Ala4337Ser) | |
19 | g.38565347C>A | CA405673000 | RYR1 | c.1423C>A c.1405C>A c.13013C>A (p.Ala4338Glu) c.12998C>A (p.Ala4333Glu) c.12995C>A (p.Ala4332Glu) c.12980C>A (p.Ala4327Glu) c.13010C>A (p.Ala4337Glu) | |
19 | g.38565347C>G | CA405673002 | RYR1 | c.1423C>G c.1405C>G c.13013C>G (p.Ala4338Gly) c.12998C>G (p.Ala4333Gly) c.12995C>G (p.Ala4332Gly) c.12980C>G (p.Ala4327Gly) c.13010C>G (p.Ala4337Gly) | |
19 | g.38565347C>T | CA405673003 | RYR1 | c.1423C>T c.1405C>T c.13013C>T (p.Ala4338Val) c.12998C>T (p.Ala4333Val) c.12995C>T (p.Ala4332Val) c.12980C>T (p.Ala4327Val) c.13010C>T (p.Ala4337Val) | ClinVar gnomAD v4 |
19 | g.38565348A>C | CA507355778 | RYR1 | c.1424A>C c.1406A>C c.13014A>C (p.Ala4338=) c.12999A>C (p.Ala4333=) c.12996A>C (p.Ala4332=) c.12981A>C (p.Ala4327=) c.13011A>C (p.Ala4337=) | |
19 | g.38565348A>G | CA507355779 | RYR1 | c.1424A>G c.1406A>G c.13014A>G (p.Ala4338=) c.12999A>G (p.Ala4333=) c.12996A>G (p.Ala4332=) c.12981A>G (p.Ala4327=) c.13011A>G (p.Ala4337=) | gnomAD v4 |
19 | g.38565348A>T | CA507355780 | RYR1 | c.1424A>T c.1406A>T c.13014A>T (p.Ala4338=) c.12999A>T (p.Ala4333=) c.12996A>T (p.Ala4332=) c.12981A>T (p.Ala4327=) c.13011A>T (p.Ala4337=) | |
19 | g.38565349G>A | CA405673004 | RYR1 | c.1425G>A c.1407G>A c.13015G>A (p.Ala4339Thr) c.13000G>A (p.Ala4334Thr) c.12997G>A (p.Ala4333Thr) c.12982G>A (p.Ala4328Thr) c.13012G>A (p.Ala4338Thr) | gnomAD v4 |
19 | g.38565349G>C | CA16621737 | RYR1 | c.1425G>C c.1407G>C c.13015G>C (p.Ala4339Pro) c.13000G>C (p.Ala4334Pro) c.12997G>C (p.Ala4333Pro) c.12982G>C (p.Ala4328Pro) c.13012G>C (p.Ala4338Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565349G= | CA2335084823 | RYR1 | c.1425G= c.1407G= c.13015G= (p.Ala4339=) c.13000G= (p.Ala4334=) c.12997G= (p.Ala4333=) c.12982G= (p.Ala4328=) c.13012G= (p.Ala4338=) | |
19 | g.38565349G>T | CA405673005 | RYR1 | c.1425G>T c.1407G>T c.13015G>T (p.Ala4339Ser) c.13000G>T (p.Ala4334Ser) c.12997G>T (p.Ala4333Ser) c.12982G>T (p.Ala4328Ser) c.13012G>T (p.Ala4338Ser) | |
19 | g.38565350C>A | CA405673007 | RYR1 | c.1426C>A c.1408C>A c.13016C>A (p.Ala4339Glu) c.13001C>A (p.Ala4334Glu) c.12998C>A (p.Ala4333Glu) c.12983C>A (p.Ala4328Glu) c.13013C>A (p.Ala4338Glu) | dbSNP |
19 | g.38565350C>G | CA405673008 | RYR1 | c.1426C>G c.1408C>G c.13016C>G (p.Ala4339Gly) c.13001C>G (p.Ala4334Gly) c.12998C>G (p.Ala4333Gly) c.12983C>G (p.Ala4328Gly) c.13013C>G (p.Ala4338Gly) | |
19 | g.38565350C>T | CA405673012 | RYR1 | c.1426C>T c.1408C>T c.13016C>T (p.Ala4339Val) c.13001C>T (p.Ala4334Val) c.12998C>T (p.Ala4333Val) c.12983C>T (p.Ala4328Val) c.13013C>T (p.Ala4338Val) | gnomAD v4 |
19 | g.38565351A>C | CA507355785 | RYR1 | c.1427A>C c.1409A>C c.13017A>C (p.Ala4339=) c.13002A>C (p.Ala4334=) c.12999A>C (p.Ala4333=) c.12984A>C (p.Ala4328=) c.13014A>C (p.Ala4338=) | |
19 | g.38565351A>G | CA507355783 | RYR1 | c.1427A>G c.1409A>G c.13017A>G (p.Ala4339=) c.13002A>G (p.Ala4334=) c.12999A>G (p.Ala4333=) c.12984A>G (p.Ala4328=) c.13014A>G (p.Ala4338=) | gnomAD v4 |
19 | g.38565351A>T | CA507355784 | RYR1 | c.1427A>T c.1409A>T c.13017A>T (p.Ala4339=) c.13002A>T (p.Ala4334=) c.12999A>T (p.Ala4333=) c.12984A>T (p.Ala4328=) c.13014A>T (p.Ala4338=) | |
19 | g.38565352G>A | CA405673014 | RYR1 | c.1428G>A c.1410G>A c.13018G>A (p.Val4340Met) c.13003G>A (p.Val4335Met) c.13000G>A (p.Val4334Met) c.12985G>A (p.Val4329Met) c.13015G>A (p.Val4339Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565352G>C | CA405673015 | RYR1 | c.1428G>C c.1410G>C c.13018G>C (p.Val4340Leu) c.13003G>C (p.Val4335Leu) c.13000G>C (p.Val4334Leu) c.12985G>C (p.Val4329Leu) c.13015G>C (p.Val4339Leu) | dbSNP |
19 | g.38565352G= | CA2335084824 | RYR1 | c.1428G= c.1410G= c.13018G= (p.Val4340=) c.13003G= (p.Val4335=) c.13000G= (p.Val4334=) c.12985G= (p.Val4329=) c.13015G= (p.Val4339=) | |
19 | g.38565352G>T | CA405673013 | RYR1 | c.1428G>T c.1410G>T c.13018G>T (p.Val4340Leu) c.13003G>T (p.Val4335Leu) c.13000G>T (p.Val4334Leu) c.12985G>T (p.Val4329Leu) c.13015G>T (p.Val4339Leu) | |
19 | g.38565353T>A | CA405673017 | RYR1 | c.1429T>A c.1411T>A c.13019T>A (p.Val4340Glu) c.13004T>A (p.Val4335Glu) c.13001T>A (p.Val4334Glu) c.12986T>A (p.Val4329Glu) c.13016T>A (p.Val4339Glu) | |
19 | g.38565353T>C | CA405673019 | RYR1 | c.1429T>C c.1411T>C c.13019T>C (p.Val4340Ala) c.13004T>C (p.Val4335Ala) c.13001T>C (p.Val4334Ala) c.12986T>C (p.Val4329Ala) c.13016T>C (p.Val4339Ala) | gnomAD v4 |
19 | g.38565353T>G | CA405673023 | RYR1 | c.1429T>G c.1411T>G c.13019T>G (p.Val4340Gly) c.13004T>G (p.Val4335Gly) c.13001T>G (p.Val4334Gly) c.12986T>G (p.Val4329Gly) c.13016T>G (p.Val4339Gly) | |
19 | g.38565354G>A | CA507355788 | RYR1 | c.1430G>A c.1412G>A c.13020G>A (p.Val4340=) c.13005G>A (p.Val4335=) c.13002G>A (p.Val4334=) c.12987G>A (p.Val4329=) c.13017G>A (p.Val4339=) | ClinVar gnomAD v4 |
19 | g.38565354G>C | CA507355789 | RYR1 | c.1430G>C c.1412G>C c.13020G>C (p.Val4340=) c.13005G>C (p.Val4335=) c.13002G>C (p.Val4334=) c.12987G>C (p.Val4329=) c.13017G>C (p.Val4339=) | |
19 | g.38565354G>T | CA507355790 | RYR1 | c.1430G>T c.1412G>T c.13020G>T (p.Val4340=) c.13005G>T (p.Val4335=) c.13002G>T (p.Val4334=) c.12987G>T (p.Val4329=) c.13017G>T (p.Val4339=) | |
19 | g.38565355A>C | CA405673026 | RYR1 | c.1431A>C c.1413A>C c.13021A>C (p.Thr4341Pro) c.13006A>C (p.Thr4336Pro) c.13003A>C (p.Thr4335Pro) c.12988A>C (p.Thr4330Pro) c.13018A>C (p.Thr4340Pro) | |
19 | g.38565355A>G | CA405673032 | RYR1 | c.1431A>G c.1413A>G c.13021A>G (p.Thr4341Ala) c.13006A>G (p.Thr4336Ala) c.13003A>G (p.Thr4335Ala) c.12988A>G (p.Thr4330Ala) c.13018A>G (p.Thr4340Ala) | gnomAD v4 |
19 | g.38565355A>T | CA405673035 | RYR1 | c.1431A>T c.1413A>T c.13021A>T (p.Thr4341Ser) c.13006A>T (p.Thr4336Ser) c.13003A>T (p.Thr4335Ser) c.12988A>T (p.Thr4330Ser) c.13018A>T (p.Thr4340Ser) | |
19 | g.38565355_38565388delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG | CA2335084825 | RYR1 | c.1431_1464delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG c.1413_1446delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG c.13021_13054delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4341=) c.13006_13039delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4336=) c.13003_13036delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4335=) c.12988_13021delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4330=) c.13018_13051delinsACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGG (p.Thr4340=) | |
19 | g.38565356C>A | CA405673036 | RYR1 | c.1432C>A c.1414C>A c.13022C>A (p.Thr4341Lys) c.13007C>A (p.Thr4336Lys) c.13004C>A (p.Thr4335Lys) c.12989C>A (p.Thr4330Lys) c.13019C>A (p.Thr4340Lys) | gnomAD v4 |
19 | g.38565356C= | CA2335084827 | RYR1 | c.1432C= c.1414C= c.13022C= (p.Thr4341=) c.13007C= (p.Thr4336=) c.13004C= (p.Thr4335=) c.12989C= (p.Thr4330=) c.13019C= (p.Thr4340=) | |
19 | g.38565356C>G | CA405673038 | RYR1 | c.1432C>G c.1414C>G c.13022C>G (p.Thr4341Arg) c.13007C>G (p.Thr4336Arg) c.13004C>G (p.Thr4335Arg) c.12989C>G (p.Thr4330Arg) c.13019C>G (p.Thr4340Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565356C>T | CA059537 | RYR1 | c.1432C>T c.1414C>T c.13022C>T (p.Thr4341Met) c.13007C>T (p.Thr4336Met) c.13004C>T (p.Thr4335Met) c.12989C>T (p.Thr4330Met) c.13019C>T (p.Thr4340Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565358_38565390del | CA308109466 | RYR1 | c.1434_1466del c.1416_1448del c.13024_13056del (p.Arg4342_Ala4352del) c.13009_13041del (p.Arg4337_Ala4347del) c.13006_13038del (p.Arg4336_Ala4346del) c.12991_13023del (p.Arg4331_Ala4341del) c.13021_13053del (p.Arg4341_Ala4351del) | dbSNP |
19 | g.38565356_38565391delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG | CA2335084826 | RYR1 | c.1432_1467delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG c.1414_1449delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG c.13022_13057delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4341=) c.13007_13042delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4336=) c.13004_13039delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4335=) c.12989_13024delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4330=) c.13019_13054delinsCGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGG (p.Thr4340=) | |
19 | g.38565357G>A | CA507355794 | RYR1 | c.1433G>A c.1415G>A c.13023G>A (p.Thr4341=) c.13008G>A (p.Thr4336=) c.13005G>A (p.Thr4335=) c.12990G>A (p.Thr4330=) c.13020G>A (p.Thr4340=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565357G>C | CA507355795 | RYR1 | c.1433G>C c.1415G>C c.13023G>C (p.Thr4341=) c.13008G>C (p.Thr4336=) c.13005G>C (p.Thr4335=) c.12990G>C (p.Thr4330=) c.13020G>C (p.Thr4340=) | ClinVar |
19 | g.38565357G= | CA2335084828 | RYR1 | c.1433G= c.1415G= c.13023G= (p.Thr4341=) c.13008G= (p.Thr4336=) c.13005G= (p.Thr4335=) c.12990G= (p.Thr4330=) c.13020G= (p.Thr4340=) | |
19 | g.38565357G>T | CA507355796 | RYR1 | c.1433G>T c.1415G>T c.13023G>T (p.Thr4341=) c.13008G>T (p.Thr4336=) c.13005G>T (p.Thr4335=) c.12990G>T (p.Thr4330=) c.13020G>T (p.Thr4340=) | gnomAD v4 |
19 | g.38565357_38565358insGG | CA2335084829 | RYR1 | c.1433_1434insGG c.1415_1416insGG c.13023_13024insGG (p.Arg4342GlyfsTer?) c.13008_13009insGG (p.Arg4337GlyfsTer?) c.13005_13006insGG (p.Arg4336GlyfsTer?) c.12990_12991insGG (p.Arg4331GlyfsTer?) c.13020_13021insGG (p.Arg4341GlyfsTer?) | dbSNP |
19 | g.38565367_38565401del | CA995731663 | RYR1 | c.1443_1477del c.1425_1459del c.13033_13067del (p.Ala4345ProfsTer?) c.13018_13052del (p.Ala4340ProfsTer?) c.13015_13049del (p.Ala4339ProfsTer?) c.13000_13034del (p.Ala4334ProfsTer?) c.13030_13064del (p.Ala4344ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565358C>A | CA405673042 | RYR1 | c.1434C>A c.1416C>A c.13024C>A (p.Arg4342Ser) c.13009C>A (p.Arg4337Ser) c.13006C>A (p.Arg4336Ser) c.12991C>A (p.Arg4331Ser) c.13021C>A (p.Arg4341Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565358C= | CA2335084830 | RYR1 | c.1434C= c.1416C= c.13024C= (p.Arg4342=) c.13009C= (p.Arg4337=) c.13006C= (p.Arg4336=) c.12991C= (p.Arg4331=) c.13021C= (p.Arg4341=) | |
19 | g.38565358C>G | CA405673044 | RYR1 | c.1434C>G c.1416C>G c.13024C>G (p.Arg4342Gly) c.13009C>G (p.Arg4337Gly) c.13006C>G (p.Arg4336Gly) c.12991C>G (p.Arg4331Gly) c.13021C>G (p.Arg4341Gly) | |
19 | g.38565358C>T | CA405673048 | RYR1 | c.1434C>T c.1416C>T c.13024C>T (p.Arg4342Cys) c.13009C>T (p.Arg4337Cys) c.13006C>T (p.Arg4336Cys) c.12991C>T (p.Arg4331Cys) c.13021C>T (p.Arg4341Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565359G>A | CA405673055 | RYR1 | c.1435G>A c.1417G>A c.13025G>A (p.Arg4342His) c.13010G>A (p.Arg4337His) c.13007G>A (p.Arg4336His) c.12992G>A (p.Arg4331His) c.13022G>A (p.Arg4341His) | dbSNP gnomAD v4 |
19 | g.38565359G>C | CA405673050 | RYR1 | c.1435G>C c.1417G>C c.13025G>C (p.Arg4342Pro) c.13010G>C (p.Arg4337Pro) c.13007G>C (p.Arg4336Pro) c.12992G>C (p.Arg4331Pro) c.13022G>C (p.Arg4341Pro) | |
19 | g.38565359G= | CA2335084831 | RYR1 | c.1435G= c.1417G= c.13025G= (p.Arg4342=) c.13010G= (p.Arg4337=) c.13007G= (p.Arg4336=) c.12992G= (p.Arg4331=) c.13022G= (p.Arg4341=) | |
19 | g.38565359G>T | CA405673051 | RYR1 | c.1435G>T c.1417G>T c.13025G>T (p.Arg4342Leu) c.13010G>T (p.Arg4337Leu) c.13007G>T (p.Arg4336Leu) c.12992G>T (p.Arg4331Leu) c.13022G>T (p.Arg4341Leu) | gnomAD v4 |
19 | g.38565360C>A | CA507355799 | RYR1 | c.1436C>A c.1418C>A c.13026C>A (p.Arg4342=) c.13011C>A (p.Arg4337=) c.13008C>A (p.Arg4336=) c.12993C>A (p.Arg4331=) c.13023C>A (p.Arg4341=) | gnomAD v4 |
19 | g.38565360C>G | CA507355800 | RYR1 | c.1436C>G c.1418C>G c.13026C>G (p.Arg4342=) c.13011C>G (p.Arg4337=) c.13008C>G (p.Arg4336=) c.12993C>G (p.Arg4331=) c.13023C>G (p.Arg4341=) | |
19 | g.38565360C>T | CA507355801 | RYR1 | c.1436C>T c.1418C>T c.13026C>T (p.Arg4342=) c.13011C>T (p.Arg4337=) c.13008C>T (p.Arg4336=) c.12993C>T (p.Arg4331=) c.13023C>T (p.Arg4341=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565366_38565374dup | CA308109474 | RYR1 | c.1442_1450dup c.1424_1432dup c.13032_13040dup (p.Gly4347_Ala4348insAlaAlaGly) c.13017_13025dup (p.Gly4342_Ala4343insAlaAlaGly) c.13014_13022dup (p.Gly4341_Ala4342insAlaAlaGly) c.12999_13007dup (p.Gly4336_Ala4337insAlaAlaGly) c.13029_13037dup (p.Gly4346_Ala4347insAlaAlaGly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565361G>A | CA405673059 | RYR1 | c.1437G>A c.1419G>A c.13027G>A (p.Ala4343Thr) c.13012G>A (p.Ala4338Thr) c.13009G>A (p.Ala4337Thr) c.12994G>A (p.Ala4332Thr) c.13024G>A (p.Ala4342Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565361G>C | CA405673068 | RYR1 | c.1437G>C c.1419G>C c.13027G>C (p.Ala4343Pro) c.13012G>C (p.Ala4338Pro) c.13009G>C (p.Ala4337Pro) c.12994G>C (p.Ala4332Pro) c.13024G>C (p.Ala4342Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565361G= | CA2335084832 | RYR1 | c.1437G= c.1419G= c.13027G= (p.Ala4343=) c.13012G= (p.Ala4338=) c.13009G= (p.Ala4337=) c.12994G= (p.Ala4332=) c.13024G= (p.Ala4342=) | |
19 | g.38565361G>T | CA405673072 | RYR1 | c.1437G>T c.1419G>T c.13027G>T (p.Ala4343Ser) c.13012G>T (p.Ala4338Ser) c.13009G>T (p.Ala4337Ser) c.12994G>T (p.Ala4332Ser) c.13024G>T (p.Ala4342Ser) | gnomAD v4 |
19 | g.38565362C>A | CA405673075 | RYR1 | c.1438C>A c.1420C>A c.13028C>A (p.Ala4343Asp) c.13013C>A (p.Ala4338Asp) c.13010C>A (p.Ala4337Asp) c.12995C>A (p.Ala4332Asp) c.13025C>A (p.Ala4342Asp) | gnomAD v4 |
19 | g.38565362C>G | CA405673077 | RYR1 | c.1438C>G c.1420C>G c.13028C>G (p.Ala4343Gly) c.13013C>G (p.Ala4338Gly) c.13010C>G (p.Ala4337Gly) c.12995C>G (p.Ala4332Gly) c.13025C>G (p.Ala4342Gly) | |
19 | g.38565362C>T | CA405673078 | RYR1 | c.1438C>T c.1420C>T c.13028C>T (p.Ala4343Val) c.13013C>T (p.Ala4338Val) c.13010C>T (p.Ala4337Val) c.12995C>T (p.Ala4332Val) c.13025C>T (p.Ala4342Val) | gnomAD v4 |
19 | g.38565363T>A | CA507355805 | RYR1 | c.1439T>A c.1421T>A c.13029T>A (p.Ala4343=) c.13014T>A (p.Ala4338=) c.13011T>A (p.Ala4337=) c.12996T>A (p.Ala4332=) c.13026T>A (p.Ala4342=) | |
19 | g.38565363T>C | CA507355806 | RYR1 | c.1439T>C c.1421T>C c.13029T>C (p.Ala4343=) c.13014T>C (p.Ala4338=) c.13011T>C (p.Ala4337=) c.12996T>C (p.Ala4332=) c.13026T>C (p.Ala4342=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565363T>G | CA507355807 | RYR1 | c.1439T>G c.1421T>G c.13029T>G (p.Ala4343=) c.13014T>G (p.Ala4338=) c.13011T>G (p.Ala4337=) c.12996T>G (p.Ala4332=) c.13026T>G (p.Ala4342=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565363T= | CA2335084833 | RYR1 | c.1439T= c.1421T= c.13029T= (p.Ala4343=) c.13014T= (p.Ala4338=) c.13011T= (p.Ala4337=) c.12996T= (p.Ala4332=) c.13026T= (p.Ala4342=) | |
19 | g.38565364G>A | CA405673082 | RYR1 | c.1440G>A c.1422G>A c.13030G>A (p.Gly4344Arg) c.13015G>A (p.Gly4339Arg) c.13012G>A (p.Gly4338Arg) c.12997G>A (p.Gly4333Arg) c.13027G>A (p.Gly4343Arg) | |
19 | g.38565364G>C | CA405673083 | RYR1 | c.1440G>C c.1422G>C c.13030G>C (p.Gly4344Arg) c.13015G>C (p.Gly4339Arg) c.13012G>C (p.Gly4338Arg) c.12997G>C (p.Gly4333Arg) c.13027G>C (p.Gly4343Arg) | |
19 | g.38565364G>T | CA405673087 | RYR1 | c.1440G>T c.1422G>T c.13030G>T (p.Gly4344Trp) c.13015G>T (p.Gly4339Trp) c.13012G>T (p.Gly4338Trp) c.12997G>T (p.Gly4333Trp) c.13027G>T (p.Gly4343Trp) | gnomAD v4 |
19 | g.38565367del | CA2573054759 | RYR1 | c.1443del c.1425del c.13033del (p.Ala4345ProfsTer30) c.13018del (p.Ala4340ProfsTer30) c.13015del (p.Ala4339ProfsTer30) c.13000del (p.Ala4334ProfsTer30) c.13030del (p.Ala4344ProfsTer30) | ClinVar dbSNP gnomAD v4 |
19 | g.38565365G>A | CA405673096 | RYR1 | c.1441G>A c.1423G>A c.13031G>A (p.Gly4344Glu) c.13016G>A (p.Gly4339Glu) c.13013G>A (p.Gly4338Glu) c.12998G>A (p.Gly4333Glu) c.13028G>A (p.Gly4343Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565365G>C | CA405673099 | RYR1 | c.1441G>C c.1423G>C c.13031G>C (p.Gly4344Ala) c.13016G>C (p.Gly4339Ala) c.13013G>C (p.Gly4338Ala) c.12998G>C (p.Gly4333Ala) c.13028G>C (p.Gly4343Ala) | gnomAD v4 |
19 | g.38565365G= | CA2335084834 | RYR1 | c.1441G= c.1423G= c.13031G= (p.Gly4344=) c.13016G= (p.Gly4339=) c.13013G= (p.Gly4338=) c.12998G= (p.Gly4333=) c.13028G= (p.Gly4343=) | |
19 | g.38565365G>T | CA405673100 | RYR1 | c.1441G>T c.1423G>T c.13031G>T (p.Gly4344Val) c.13016G>T (p.Gly4339Val) c.13013G>T (p.Gly4338Val) c.12998G>T (p.Gly4333Val) c.13028G>T (p.Gly4343Val) | gnomAD v4 |
19 | g.38565366G>A | CA507355811 | RYR1 | c.1442G>A c.1424G>A c.13032G>A (p.Gly4344=) c.13017G>A (p.Gly4339=) c.13014G>A (p.Gly4338=) c.12999G>A (p.Gly4333=) c.13029G>A (p.Gly4343=) | gnomAD v4 |
19 | g.38565366G>C | CA507355812 | RYR1 | c.1442G>C c.1424G>C c.13032G>C (p.Gly4344=) c.13017G>C (p.Gly4339=) c.13014G>C (p.Gly4338=) c.12999G>C (p.Gly4333=) c.13029G>C (p.Gly4343=) | gnomAD v4 |
19 | g.38565366G>T | CA507355814 | RYR1 | c.1442G>T c.1424G>T c.13032G>T (p.Gly4344=) c.13017G>T (p.Gly4339=) c.13014G>T (p.Gly4338=) c.12999G>T (p.Gly4333=) c.13029G>T (p.Gly4343=) | gnomAD v4 |
19 | g.38565367G>A | CA405673116 | RYR1 | c.1443G>A c.1425G>A c.13033G>A (p.Ala4345Thr) c.13018G>A (p.Ala4340Thr) c.13015G>A (p.Ala4339Thr) c.13000G>A (p.Ala4334Thr) c.13030G>A (p.Ala4344Thr) | gnomAD v4 |
19 | g.38565367G>C | CA308109477 | RYR1 | c.1443G>C c.1425G>C c.13033G>C (p.Ala4345Pro) c.13018G>C (p.Ala4340Pro) c.13015G>C (p.Ala4339Pro) c.13000G>C (p.Ala4334Pro) c.13030G>C (p.Ala4344Pro) | dbSNP gnomAD v4 |
19 | g.38565367G= | CA2335084835 | RYR1 | c.1443G= c.1425G= c.13033G= (p.Ala4345=) c.13018G= (p.Ala4340=) c.13015G= (p.Ala4339=) c.13000G= (p.Ala4334=) c.13030G= (p.Ala4344=) | |
19 | g.38565367G>T | CA405673113 | RYR1 | c.1443G>T c.1425G>T c.13033G>T (p.Ala4345Ser) c.13018G>T (p.Ala4340Ser) c.13015G>T (p.Ala4339Ser) c.13000G>T (p.Ala4334Ser) c.13030G>T (p.Ala4344Ser) | gnomAD v4 |
19 | g.38565368C>A | CA405673121 | RYR1 | c.1444C>A c.1426C>A c.13034C>A (p.Ala4345Asp) c.13019C>A (p.Ala4340Asp) c.13016C>A (p.Ala4339Asp) c.13001C>A (p.Ala4334Asp) c.13031C>A (p.Ala4344Asp) | gnomAD v4 |
19 | g.38565368C>G | CA405673124 | RYR1 | c.1444C>G c.1426C>G c.13034C>G (p.Ala4345Gly) c.13019C>G (p.Ala4340Gly) c.13016C>G (p.Ala4339Gly) c.13001C>G (p.Ala4334Gly) c.13031C>G (p.Ala4344Gly) | |
19 | g.38565368C>T | CA405673128 | RYR1 | c.1444C>T c.1426C>T c.13034C>T (p.Ala4345Val) c.13019C>T (p.Ala4340Val) c.13016C>T (p.Ala4339Val) c.13001C>T (p.Ala4334Val) c.13031C>T (p.Ala4344Val) | gnomAD v4 |
19 | g.38565369_38565403del | CA2584909140 | RYR1 | c.1445_1479del c.1427_1461del c.13035_13069del (p.Gly4347LeufsTer?) c.13020_13054del (p.Gly4342LeufsTer?) c.13017_13051del (p.Gly4341LeufsTer?) c.13002_13036del (p.Gly4336LeufsTer?) c.13032_13066del (p.Gly4346LeufsTer?) | gnomAD v4 |
19 | g.38565369C>A | CA507355818 | RYR1 | c.1445C>A c.1427C>A c.13035C>A (p.Ala4345=) c.13020C>A (p.Ala4340=) c.13017C>A (p.Ala4339=) c.13002C>A (p.Ala4334=) c.13032C>A (p.Ala4344=) | gnomAD v4 |
19 | g.38565369C= | CA2335084836 | RYR1 | c.1445C= c.1427C= c.13035C= (p.Ala4345=) c.13020C= (p.Ala4340=) c.13017C= (p.Ala4339=) c.13002C= (p.Ala4334=) c.13032C= (p.Ala4344=) | |
19 | g.38565369C>G | CA507355819 | RYR1 | c.1445C>G c.1427C>G c.13035C>G (p.Ala4345=) c.13020C>G (p.Ala4340=) c.13017C>G (p.Ala4339=) c.13002C>G (p.Ala4334=) c.13032C>G (p.Ala4344=) | |
19 | g.38565369C>T | CA308109479 | RYR1 | c.1445C>T c.1427C>T c.13035C>T (p.Ala4345=) c.13020C>T (p.Ala4340=) c.13017C>T (p.Ala4339=) c.13002C>T (p.Ala4334=) c.13032C>T (p.Ala4344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565375_38565400del | CA2576772103 | RYR1 | c.1451_1476del c.1433_1458del c.13041_13066del (p.Ala4348ProfsTer?) c.13026_13051del (p.Ala4343ProfsTer?) c.13023_13048del (p.Ala4342ProfsTer?) c.13008_13033del (p.Ala4337ProfsTer?) c.13038_13063del (p.Ala4347ProfsTer?) | ClinVar gnomAD v4 |
19 | g.38565370del | CA2584909141 | RYR1 | c.1446del c.1428del c.13036del (p.Ala4346LeufsTer29) c.13021del (p.Ala4341LeufsTer29) c.13018del (p.Ala4340LeufsTer29) c.13003del (p.Ala4335LeufsTer29) c.13033del (p.Ala4345LeufsTer29) | gnomAD v4 |
19 | g.38565370G>A | CA405673130 | RYR1 | c.1446G>A c.1428G>A c.13036G>A (p.Ala4346Thr) c.13021G>A (p.Ala4341Thr) c.13018G>A (p.Ala4340Thr) c.13003G>A (p.Ala4335Thr) c.13033G>A (p.Ala4345Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565370G>C | CA405673134 | RYR1 | c.1446G>C c.1428G>C c.13036G>C (p.Ala4346Pro) c.13021G>C (p.Ala4341Pro) c.13018G>C (p.Ala4340Pro) c.13003G>C (p.Ala4335Pro) c.13033G>C (p.Ala4345Pro) | |
19 | g.38565370G= | CA2335084837 | RYR1 | c.1446G= c.1428G= c.13036G= (p.Ala4346=) c.13021G= (p.Ala4341=) c.13018G= (p.Ala4340=) c.13003G= (p.Ala4335=) c.13033G= (p.Ala4345=) | |
19 | g.38565370G>T | CA405673137 | RYR1 | c.1446G>T c.1428G>T c.13036G>T (p.Ala4346Ser) c.13021G>T (p.Ala4341Ser) c.13018G>T (p.Ala4340Ser) c.13003G>T (p.Ala4335Ser) c.13033G>T (p.Ala4345Ser) | gnomAD v4 |
19 | g.38565371C>A | CA405673140 | RYR1 | c.1447C>A c.1429C>A c.13037C>A (p.Ala4346Asp) c.13022C>A (p.Ala4341Asp) c.13019C>A (p.Ala4340Asp) c.13004C>A (p.Ala4335Asp) c.13034C>A (p.Ala4345Asp) | gnomAD v4 |
19 | g.38565371C>G | CA405673155 | RYR1 | c.1447C>G c.1429C>G c.13037C>G (p.Ala4346Gly) c.13022C>G (p.Ala4341Gly) c.13019C>G (p.Ala4340Gly) c.13004C>G (p.Ala4335Gly) c.13034C>G (p.Ala4345Gly) | gnomAD v4 |
19 | g.38565371C>T | CA405673143 | RYR1 | c.1447C>T c.1429C>T c.13037C>T (p.Ala4346Val) c.13022C>T (p.Ala4341Val) c.13019C>T (p.Ala4340Val) c.13004C>T (p.Ala4335Val) c.13034C>T (p.Ala4345Val) | gnomAD v4 |
19 | g.38565371_38565372del | CA2584909142 | RYR1 | c.1447_1448del c.1429_1430del c.13037_13038del (p.Ala4346GlyfsTer?) c.13022_13023del (p.Ala4341GlyfsTer?) c.13019_13020del (p.Ala4340GlyfsTer?) c.13004_13005del (p.Ala4335GlyfsTer?) c.13034_13035del (p.Ala4345GlyfsTer?) | gnomAD v4 |
19 | g.38565372T>A | CA507355822 | RYR1 | c.1448T>A c.1430T>A c.13038T>A (p.Ala4346=) c.13023T>A (p.Ala4341=) c.13020T>A (p.Ala4340=) c.13005T>A (p.Ala4335=) c.13035T>A (p.Ala4345=) | |
19 | g.38565372T>C | CA059539 | RYR1 | c.1448T>C c.1430T>C c.13038T>C (p.Ala4346=) c.13023T>C (p.Ala4341=) c.13020T>C (p.Ala4340=) c.13005T>C (p.Ala4335=) c.13035T>C (p.Ala4345=) | ClinVar dbSNP ExAC gnomAD v4 |
19 | g.38565372T>G | CA507355820 | RYR1 | c.1448T>G c.1430T>G c.13038T>G (p.Ala4346=) c.13023T>G (p.Ala4341=) c.13020T>G (p.Ala4340=) c.13005T>G (p.Ala4335=) c.13035T>G (p.Ala4345=) | dbSNP gnomAD v4 |
19 | g.38565372T= | CA2335084838 | RYR1 | c.1448T= c.1430T= c.13038T= (p.Ala4346=) c.13023T= (p.Ala4341=) c.13020T= (p.Ala4340=) c.13005T= (p.Ala4335=) c.13035T= (p.Ala4345=) | |
19 | g.38565373G>A | CA405673159 | RYR1 | c.1449G>A c.1431G>A c.13039G>A (p.Gly4347Ser) c.13024G>A (p.Gly4342Ser) c.13021G>A (p.Gly4341Ser) c.13006G>A (p.Gly4336Ser) c.13036G>A (p.Gly4346Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565373G>C | CA405673169 | RYR1 | c.1449G>C c.1431G>C c.13039G>C (p.Gly4347Arg) c.13024G>C (p.Gly4342Arg) c.13021G>C (p.Gly4341Arg) c.13006G>C (p.Gly4336Arg) c.13036G>C (p.Gly4346Arg) | gnomAD v4 |
19 | g.38565373G= | CA2335084839 | RYR1 | c.1449G= c.1431G= c.13039G= (p.Gly4347=) c.13024G= (p.Gly4342=) c.13021G= (p.Gly4341=) c.13006G= (p.Gly4336=) c.13036G= (p.Gly4346=) | |
19 | g.38565373G>T | CA405673171 | RYR1 | c.1449G>T c.1431G>T c.13039G>T (p.Gly4347Cys) c.13024G>T (p.Gly4342Cys) c.13021G>T (p.Gly4341Cys) c.13006G>T (p.Gly4336Cys) c.13036G>T (p.Gly4346Cys) | gnomAD v4 |
19 | g.38565374G>A | CA405673182 | RYR1 | c.1450G>A c.1432G>A c.13040G>A (p.Gly4347Asp) c.13025G>A (p.Gly4342Asp) c.13022G>A (p.Gly4341Asp) c.13007G>A (p.Gly4336Asp) c.13037G>A (p.Gly4346Asp) | gnomAD v4 |
19 | g.38565374G>C | CA405673172 | RYR1 | c.1450G>C c.1432G>C c.13040G>C (p.Gly4347Ala) c.13025G>C (p.Gly4342Ala) c.13022G>C (p.Gly4341Ala) c.13007G>C (p.Gly4336Ala) c.13037G>C (p.Gly4346Ala) | |
19 | g.38565374G>T | CA405673174 | RYR1 | c.1450G>T c.1432G>T c.13040G>T (p.Gly4347Val) c.13025G>T (p.Gly4342Val) c.13022G>T (p.Gly4341Val) c.13007G>T (p.Gly4336Val) c.13037G>T (p.Gly4346Val) | gnomAD v4 |
19 | g.38565375C>A | CA507355825 | RYR1 | c.1451C>A c.1433C>A c.13041C>A (p.Gly4347=) c.13026C>A (p.Gly4342=) c.13023C>A (p.Gly4341=) c.13008C>A (p.Gly4336=) c.13038C>A (p.Gly4346=) | gnomAD v4 |
19 | g.38565375C= | CA2335084840 | RYR1 | c.1451C= c.1433C= c.13041C= (p.Gly4347=) c.13026C= (p.Gly4342=) c.13023C= (p.Gly4341=) c.13008C= (p.Gly4336=) c.13038C= (p.Gly4346=) | |
19 | g.38565375C>G | CA507355826 | RYR1 | c.1451C>G c.1433C>G c.13041C>G (p.Gly4347=) c.13026C>G (p.Gly4342=) c.13023C>G (p.Gly4341=) c.13008C>G (p.Gly4336=) c.13038C>G (p.Gly4346=) | dbSNP |
19 | g.38565375C>T | CA507355827 | RYR1 | c.1451C>T c.1433C>T c.13041C>T (p.Gly4347=) c.13026C>T (p.Gly4342=) c.13023C>T (p.Gly4341=) c.13008C>T (p.Gly4336=) c.13038C>T (p.Gly4346=) | dbSNP gnomAD v4 |
19 | g.38565376G>A | CA405673185 | RYR1 | c.1452G>A c.1434G>A c.13042G>A (p.Ala4348Thr) c.13027G>A (p.Ala4343Thr) c.13024G>A (p.Ala4342Thr) c.13009G>A (p.Ala4337Thr) c.13039G>A (p.Ala4347Thr) | ClinVar dbSNP gnomAD v4 |
19 | g.38565376G>C | CA405673186 | RYR1 | c.1452G>C c.1434G>C c.13042G>C (p.Ala4348Pro) c.13027G>C (p.Ala4343Pro) c.13024G>C (p.Ala4342Pro) c.13009G>C (p.Ala4337Pro) c.13039G>C (p.Ala4347Pro) | |
19 | g.38565376G>T | CA405673188 | RYR1 | c.1452G>T c.1434G>T c.13042G>T (p.Ala4348Ser) c.13027G>T (p.Ala4343Ser) c.13024G>T (p.Ala4342Ser) c.13009G>T (p.Ala4337Ser) c.13039G>T (p.Ala4347Ser) | gnomAD v4 |
19 | g.38565381_38565392del | CA2584909143 | RYR1 | c.1457_1468del c.1439_1450del c.13047_13058del (p.Ala4350_Gly4353del) c.13032_13043del (p.Ala4345_Gly4348del) c.13029_13040del (p.Ala4344_Gly4347del) c.13014_13025del (p.Ala4339_Gly4342del) c.13044_13055del (p.Ala4349_Gly4352del) | gnomAD v4 |
19 | g.38565377del | CA2584909144 | RYR1 | c.1453del c.1435del c.13043del (p.Ala4348GlyfsTer27) c.13028del (p.Ala4343GlyfsTer27) c.13025del (p.Ala4342GlyfsTer27) c.13010del (p.Ala4337GlyfsTer27) c.13040del (p.Ala4347GlyfsTer27) | gnomAD v4 |
19 | g.38565377C>A | CA405673190 | RYR1 | c.1453C>A c.1435C>A c.13043C>A (p.Ala4348Glu) c.13028C>A (p.Ala4343Glu) c.13025C>A (p.Ala4342Glu) c.13010C>A (p.Ala4337Glu) c.13040C>A (p.Ala4347Glu) | gnomAD v4 |
19 | g.38565377C= | CA2335084841 | RYR1 | c.1453C= c.1435C= c.13043C= (p.Ala4348=) c.13028C= (p.Ala4343=) c.13025C= (p.Ala4342=) c.13010C= (p.Ala4337=) c.13040C= (p.Ala4347=) | |
19 | g.38565377C>G | CA405673192 | RYR1 | c.1453C>G c.1435C>G c.13043C>G (p.Ala4348Gly) c.13028C>G (p.Ala4343Gly) c.13025C>G (p.Ala4342Gly) c.13010C>G (p.Ala4337Gly) c.13040C>G (p.Ala4347Gly) | gnomAD v4 |
19 | g.38565377C>T | CA405673195 | RYR1 | c.1453C>T c.1435C>T c.13043C>T (p.Ala4348Val) c.13028C>T (p.Ala4343Val) c.13025C>T (p.Ala4342Val) c.13010C>T (p.Ala4337Val) c.13040C>T (p.Ala4347Val) | dbSNP gnomAD v4 |
19 | g.38565377_38565378delinsCG | CA2335084842 | RYR1 | c.1453_1454delinsCG c.1435_1436delinsCG c.13043_13044delinsCG (p.Ala4348=) c.13028_13029delinsCG (p.Ala4343=) c.13025_13026delinsCG (p.Ala4342=) c.13010_13011delinsCG (p.Ala4337=) c.13040_13041delinsCG (p.Ala4347=) | |
19 | g.38565378G>A | CA024031 | RYR1 | c.1454G>A c.1436G>A c.13044G>A (p.Ala4348=) c.13029G>A (p.Ala4343=) c.13026G>A (p.Ala4342=) c.13011G>A (p.Ala4337=) c.13041G>A (p.Ala4347=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565378G>C | CA507355835 | RYR1 | c.1454G>C c.1436G>C c.13044G>C (p.Ala4348=) c.13029G>C (p.Ala4343=) c.13026G>C (p.Ala4342=) c.13011G>C (p.Ala4337=) c.13041G>C (p.Ala4347=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565378G= | CA2335084844 | RYR1 | c.1454G= c.1436G= c.13044G= (p.Ala4348=) c.13029G= (p.Ala4343=) c.13026G= (p.Ala4342=) c.13011G= (p.Ala4337=) c.13041G= (p.Ala4347=) | |
19 | g.38565378G>T | CA507355834 | RYR1 | c.1454G>T c.1436G>T c.13044G>T (p.Ala4348=) c.13029G>T (p.Ala4343=) c.13026G>T (p.Ala4342=) c.13011G>T (p.Ala4337=) c.13041G>T (p.Ala4347=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565382dup | CA2584909145 | RYR1 | c.1458dup c.1440dup c.13048dup (p.Ala4350GlyfsTer?) c.13033dup (p.Ala4345GlyfsTer?) c.13030dup (p.Ala4344GlyfsTer?) c.13015dup (p.Ala4339GlyfsTer?) c.13045dup (p.Ala4349GlyfsTer?) | gnomAD v4 |
19 | g.38565380_38565382dup | CA2335084843 | RYR1 | c.1456_1458dup c.1438_1440dup c.13046_13048dup (p.Gly4349_Ala4350insGly) c.13031_13033dup (p.Gly4344_Ala4345insGly) c.13028_13030dup (p.Gly4343_Ala4344insGly) c.13013_13015dup (p.Gly4338_Ala4339insGly) c.13043_13045dup (p.Gly4348_Ala4349insGly) | ClinVar dbSNP gnomAD v4 |
19 | g.38565382del | CA633066828 | RYR1 | c.1458del c.1440del c.13048del (p.Ala4350ArgfsTer25) c.13033del (p.Ala4345ArgfsTer25) c.13030del (p.Ala4344ArgfsTer25) c.13015del (p.Ala4339ArgfsTer25) c.13045del (p.Ala4349ArgfsTer25) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565380_38565382del | CA2814346197 | RYR1 | c.1456_1458del c.1438_1440del c.13046_13048del (p.Gly4349del) c.13031_13033del (p.Gly4344del) c.13028_13030del (p.Gly4343del) c.13013_13015del (p.Gly4338del) c.13043_13045del (p.Gly4348del) | |
19 | g.38565379G>A | CA405673197 | RYR1 | c.1455G>A c.1437G>A c.13045G>A (p.Gly4349Arg) c.13030G>A (p.Gly4344Arg) c.13027G>A (p.Gly4343Arg) c.13012G>A (p.Gly4338Arg) c.13042G>A (p.Gly4348Arg) | gnomAD v4 |
19 | g.38565379G>C | CA405673201 | RYR1 | c.1455G>C c.1437G>C c.13045G>C (p.Gly4349Arg) c.13030G>C (p.Gly4344Arg) c.13027G>C (p.Gly4343Arg) c.13012G>C (p.Gly4338Arg) c.13042G>C (p.Gly4348Arg) | |
19 | g.38565379G>T | CA405673210 | RYR1 | c.1455G>T c.1437G>T c.13045G>T (p.Gly4349Trp) c.13030G>T (p.Gly4344Trp) c.13027G>T (p.Gly4343Trp) c.13012G>T (p.Gly4338Trp) c.13042G>T (p.Gly4348Trp) | gnomAD v4 |
19 | g.38565380G>A | CA405673212 | RYR1 | c.1456G>A c.1438G>A c.13046G>A (p.Gly4349Glu) c.13031G>A (p.Gly4344Glu) c.13028G>A (p.Gly4343Glu) c.13013G>A (p.Gly4338Glu) c.13043G>A (p.Gly4348Glu) | gnomAD v4 |
19 | g.38565380G>C | CA405673214 | RYR1 | c.1456G>C c.1438G>C c.13046G>C (p.Gly4349Ala) c.13031G>C (p.Gly4344Ala) c.13028G>C (p.Gly4343Ala) c.13013G>C (p.Gly4338Ala) c.13043G>C (p.Gly4348Ala) | ClinVar dbSNP |
19 | g.38565380G= | CA2335084846 | RYR1 | c.1456G= c.1438G= c.13046G= (p.Gly4349=) c.13031G= (p.Gly4344=) c.13028G= (p.Gly4343=) c.13013G= (p.Gly4338=) c.13043G= (p.Gly4348=) | |
19 | g.38565380G>T | CA405673216 | RYR1 | c.1456G>T c.1438G>T c.13046G>T (p.Gly4349Val) c.13031G>T (p.Gly4344Val) c.13028G>T (p.Gly4343Val) c.13013G>T (p.Gly4338Val) c.13043G>T (p.Gly4348Val) | gnomAD v4 |
19 | g.38565380_38565383delinsGGGC | CA2335084845 | RYR1 | c.1456_1459delinsGGGC c.1438_1441delinsGGGC c.13046_13049delinsGGGC (p.Gly4349=) c.13031_13034delinsGGGC (p.Gly4344=) c.13028_13031delinsGGGC (p.Gly4343=) c.13013_13016delinsGGGC (p.Gly4338=) c.13043_13046delinsGGGC (p.Gly4348=) | |
19 | g.38565381G>A | CA507355840 | RYR1 | c.1457G>A c.1439G>A c.13047G>A (p.Gly4349=) c.13032G>A (p.Gly4344=) c.13029G>A (p.Gly4343=) c.13014G>A (p.Gly4338=) c.13044G>A (p.Gly4348=) | gnomAD v4 |
19 | g.38565381G>C | CA507355839 | RYR1 | c.1457G>C c.1439G>C c.13047G>C (p.Gly4349=) c.13032G>C (p.Gly4344=) c.13029G>C (p.Gly4343=) c.13014G>C (p.Gly4338=) c.13044G>C (p.Gly4348=) | |
19 | g.38565381G>T | CA507355837 | RYR1 | c.1457G>T c.1439G>T c.13047G>T (p.Gly4349=) c.13032G>T (p.Gly4344=) c.13029G>T (p.Gly4343=) c.13014G>T (p.Gly4338=) c.13044G>T (p.Gly4348=) | gnomAD v4 |
19 | g.38565389_38565391dup | CA2335084847 | RYR1 | c.1465_1467dup c.1447_1449dup c.13055_13057dup (p.Ala4352_Gly4353insAla) c.13040_13042dup (p.Ala4347_Gly4348insAla) c.13037_13039dup (p.Ala4346_Gly4347insAla) c.13022_13024dup (p.Ala4341_Gly4342insAla) c.13052_13054dup (p.Ala4351_Gly4352insAla) | dbSNP |
19 | g.38565386_38565391dup | CA882058928 | RYR1 | c.1462_1467dup c.1444_1449dup c.13052_13057dup (p.Ala4352_Gly4353insAlaAla) c.13037_13042dup (p.Ala4347_Gly4348insAlaAla) c.13034_13039dup (p.Ala4346_Gly4347insAlaAla) c.13019_13024dup (p.Ala4341_Gly4342insAlaAla) c.13049_13054dup (p.Ala4351_Gly4352insAlaAla) | ClinVar dbSNP gnomAD v4 |
19 | g.38565389_38565391del | CA507355838 | RYR1 | c.1465_1467del c.1447_1449del c.13055_13057del (p.Ala4352del) c.13040_13042del (p.Ala4347del) c.13037_13039del (p.Ala4346del) c.13022_13024del (p.Ala4341del) c.13052_13054del (p.Ala4351del) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565382G>A | CA059552 | RYR1 | c.1458G>A c.1440G>A c.13048G>A (p.Ala4350Thr) c.13033G>A (p.Ala4345Thr) c.13030G>A (p.Ala4344Thr) c.13015G>A (p.Ala4339Thr) c.13045G>A (p.Ala4349Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38565382G>C | CA405673225 | RYR1 | c.1458G>C c.1440G>C c.13048G>C (p.Ala4350Pro) c.13033G>C (p.Ala4345Pro) c.13030G>C (p.Ala4344Pro) c.13015G>C (p.Ala4339Pro) c.13045G>C (p.Ala4349Pro) | |
19 | g.38565382G= | CA2335084848 | RYR1 | c.1458G= c.1440G= c.13048G= (p.Ala4350=) c.13033G= (p.Ala4345=) c.13030G= (p.Ala4344=) c.13015G= (p.Ala4339=) c.13045G= (p.Ala4349=) | |
19 | g.38565382G>T | CA405673223 | RYR1 | c.1458G>T c.1440G>T c.13048G>T (p.Ala4350Ser) c.13033G>T (p.Ala4345Ser) c.13030G>T (p.Ala4344Ser) c.13015G>T (p.Ala4339Ser) c.13045G>T (p.Ala4349Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565385_38565396dup | CA2576772104 | RYR1 | c.1461_1472dup c.1443_1454dup c.13051_13062dup (p.Ala4354_Leu4355insAlaAlaGlyAla) c.13036_13047dup (p.Ala4349_Leu4350insAlaAlaGlyAla) c.13033_13044dup (p.Ala4348_Leu4349insAlaAlaGlyAla) c.13018_13029dup (p.Ala4343_Leu4344insAlaAlaGlyAla) c.13048_13059dup (p.Ala4353_Leu4354insAlaAlaGlyAla) | gnomAD v4 |
19 | g.38565383del | CA2814346203 | RYR1 | c.1459del c.1441del c.13049del (p.Ala4350GlyfsTer25) c.13034del (p.Ala4345GlyfsTer25) c.13031del (p.Ala4344GlyfsTer25) c.13016del (p.Ala4339GlyfsTer25) c.13046del (p.Ala4349GlyfsTer25) | |
19 | g.38565383C>A | CA405673226 | RYR1 | c.1459C>A c.1441C>A c.13049C>A (p.Ala4350Glu) c.13034C>A (p.Ala4345Glu) c.13031C>A (p.Ala4344Glu) c.13016C>A (p.Ala4339Glu) c.13046C>A (p.Ala4349Glu) | gnomAD v4 |
19 | g.38565383C>G | CA405673229 | RYR1 | c.1459C>G c.1441C>G c.13049C>G (p.Ala4350Gly) c.13034C>G (p.Ala4345Gly) c.13031C>G (p.Ala4344Gly) c.13016C>G (p.Ala4339Gly) c.13046C>G (p.Ala4349Gly) | gnomAD v4 |
19 | g.38565383C>T | CA405673231 | RYR1 | c.1459C>T c.1441C>T c.13049C>T (p.Ala4350Val) c.13034C>T (p.Ala4345Val) c.13031C>T (p.Ala4344Val) c.13016C>T (p.Ala4339Val) c.13046C>T (p.Ala4349Val) | gnomAD v4 |
19 | g.38565392_38565431del | CA2584909146 | RYR1 | c.1468_1507del c.1450_1489del c.13058_13097del (p.Gly4353AlafsTer9) c.13043_13082del (p.Gly4348AlafsTer9) c.13040_13079del (p.Gly4347AlafsTer9) c.13025_13064del (p.Gly4342AlafsTer9) c.13055_13094del (p.Gly4352AlafsTer9) | gnomAD v4 |
19 | g.38565384G>A | CA507355842 | RYR1 | c.1460G>A c.1442G>A c.13050G>A (p.Ala4350=) c.13035G>A (p.Ala4345=) c.13032G>A (p.Ala4344=) c.13017G>A (p.Ala4339=) c.13047G>A (p.Ala4349=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565384G>C | CA507355844 | RYR1 | c.1460G>C c.1442G>C c.13050G>C (p.Ala4350=) c.13035G>C (p.Ala4345=) c.13032G>C (p.Ala4344=) c.13017G>C (p.Ala4339=) c.13047G>C (p.Ala4349=) | |
19 | g.38565384G>T | CA507355843 | RYR1 | c.1460G>T c.1442G>T c.13050G>T (p.Ala4350=) c.13035G>T (p.Ala4345=) c.13032G>T (p.Ala4344=) c.13017G>T (p.Ala4339=) c.13047G>T (p.Ala4349=) | gnomAD v4 |
19 | g.38565385G>A | CA080780 | RYR1 | c.1461G>A c.1443G>A c.13051G>A (p.Ala4351Thr) c.13036G>A (p.Ala4346Thr) c.13033G>A (p.Ala4345Thr) c.13018G>A (p.Ala4340Thr) c.13048G>A (p.Ala4350Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565385G>C | CA405673236 | RYR1 | c.1461G>C c.1443G>C c.13051G>C (p.Ala4351Pro) c.13036G>C (p.Ala4346Pro) c.13033G>C (p.Ala4345Pro) c.13018G>C (p.Ala4340Pro) c.13048G>C (p.Ala4350Pro) | |
19 | g.38565385G= | CA2335084849 | RYR1 | c.1461G= c.1443G= c.13051G= (p.Ala4351=) c.13036G= (p.Ala4346=) c.13033G= (p.Ala4345=) c.13018G= (p.Ala4340=) c.13048G= (p.Ala4350=) | |
19 | g.38565385G>T | CA405673242 | RYR1 | c.1461G>T c.1443G>T c.13051G>T (p.Ala4351Ser) c.13036G>T (p.Ala4346Ser) c.13033G>T (p.Ala4345Ser) c.13018G>T (p.Ala4340Ser) c.13048G>T (p.Ala4350Ser) | gnomAD v4 |
19 | g.38565386C>A | CA405673245 | RYR1 | c.1462C>A c.1444C>A c.13052C>A (p.Ala4351Glu) c.13037C>A (p.Ala4346Glu) c.13034C>A (p.Ala4345Glu) c.13019C>A (p.Ala4340Glu) c.13049C>A (p.Ala4350Glu) | dbSNP gnomAD v4 |
19 | g.38565386C= | CA2335084850 | RYR1 | c.1462C= c.1444C= c.13052C= (p.Ala4351=) c.13037C= (p.Ala4346=) c.13034C= (p.Ala4345=) c.13019C= (p.Ala4340=) c.13049C= (p.Ala4350=) | |
19 | g.38565386C>G | CA405673247 | RYR1 | c.1462C>G c.1444C>G c.13052C>G (p.Ala4351Gly) c.13037C>G (p.Ala4346Gly) c.13034C>G (p.Ala4345Gly) c.13019C>G (p.Ala4340Gly) c.13049C>G (p.Ala4350Gly) | |
19 | g.38565386C>T | CA405673250 | RYR1 | c.1462C>T c.1444C>T c.13052C>T (p.Ala4351Val) c.13037C>T (p.Ala4346Val) c.13034C>T (p.Ala4345Val) c.13019C>T (p.Ala4340Val) c.13049C>T (p.Ala4350Val) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565387G>A | CA507355848 | RYR1 | c.1463G>A c.1445G>A c.13053G>A (p.Ala4351=) c.13038G>A (p.Ala4346=) c.13035G>A (p.Ala4345=) c.13020G>A (p.Ala4340=) c.13050G>A (p.Ala4350=) | gnomAD v4 |
19 | g.38565387G>C | CA507355849 | RYR1 | c.1463G>C c.1445G>C c.13053G>C (p.Ala4351=) c.13038G>C (p.Ala4346=) c.13035G>C (p.Ala4345=) c.13020G>C (p.Ala4340=) c.13050G>C (p.Ala4350=) | |
19 | g.38565387G>T | CA507355850 | RYR1 | c.1463G>T c.1445G>T c.13053G>T (p.Ala4351=) c.13038G>T (p.Ala4346=) c.13035G>T (p.Ala4345=) c.13020G>T (p.Ala4340=) c.13050G>T (p.Ala4350=) | gnomAD v4 |
19 | g.38565388dup | CA2584909147 | RYR1 | c.1464dup c.1446dup c.13054dup (p.Ala4352GlyfsTer?) c.13039dup (p.Ala4347GlyfsTer?) c.13036dup (p.Ala4346GlyfsTer?) c.13021dup (p.Ala4341GlyfsTer?) c.13051dup (p.Ala4351GlyfsTer?) | gnomAD v4 |
19 | g.38565388G>A | CA405673251 | RYR1 | c.1464G>A c.1446G>A c.13054G>A (p.Ala4352Thr) c.13039G>A (p.Ala4347Thr) c.13036G>A (p.Ala4346Thr) c.13021G>A (p.Ala4341Thr) c.13051G>A (p.Ala4351Thr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565388G>C | CA405673253 | RYR1 | c.1464G>C c.1446G>C c.13054G>C (p.Ala4352Pro) c.13039G>C (p.Ala4347Pro) c.13036G>C (p.Ala4346Pro) c.13021G>C (p.Ala4341Pro) c.13051G>C (p.Ala4351Pro) | ClinVar dbSNP gnomAD v4 |
19 | g.38565388G= | CA2335084851 | RYR1 | c.1464G= c.1446G= c.13054G= (p.Ala4352=) c.13039G= (p.Ala4347=) c.13036G= (p.Ala4346=) c.13021G= (p.Ala4341=) c.13051G= (p.Ala4351=) | |
19 | g.38565388G>T | CA405673256 | RYR1 | c.1464G>T c.1446G>T c.13054G>T (p.Ala4352Ser) c.13039G>T (p.Ala4347Ser) c.13036G>T (p.Ala4346Ser) c.13021G>T (p.Ala4341Ser) c.13051G>T (p.Ala4351Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565389C>A | CA405673264 | RYR1 | c.1465C>A c.1447C>A c.13055C>A (p.Ala4352Glu) c.13040C>A (p.Ala4347Glu) c.13037C>A (p.Ala4346Glu) c.13022C>A (p.Ala4341Glu) c.13052C>A (p.Ala4351Glu) | gnomAD v4 |
19 | g.38565389C= | CA2335084853 | RYR1 | c.1465C= c.1447C= c.13055C= (p.Ala4352=) c.13040C= (p.Ala4347=) c.13037C= (p.Ala4346=) c.13022C= (p.Ala4341=) c.13052C= (p.Ala4351=) | |
19 | g.38565389C>G | CA405673261 | RYR1 | c.1465C>G c.1447C>G c.13055C>G (p.Ala4352Gly) c.13040C>G (p.Ala4347Gly) c.13037C>G (p.Ala4346Gly) c.13022C>G (p.Ala4341Gly) c.13052C>G (p.Ala4351Gly) | gnomAD v4 |
19 | g.38565389C>T | CA405673259 | RYR1 | c.1465C>T c.1447C>T c.13055C>T (p.Ala4352Val) c.13040C>T (p.Ala4347Val) c.13037C>T (p.Ala4346Val) c.13022C>T (p.Ala4341Val) c.13052C>T (p.Ala4351Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565389_38565390delinsCG | CA2335084852 | RYR1 | c.1465_1466delinsCG c.1447_1448delinsCG c.13055_13056delinsCG (p.Ala4352=) c.13040_13041delinsCG (p.Ala4347=) c.13037_13038delinsCG (p.Ala4346=) c.13022_13023delinsCG (p.Ala4341=) c.13052_13053delinsCG (p.Ala4351=) | |
19 | g.38565390G>A | CA507355851 | RYR1 | c.1466G>A c.1448G>A c.13056G>A (p.Ala4352=) c.13041G>A (p.Ala4347=) c.13038G>A (p.Ala4346=) c.13023G>A (p.Ala4341=) c.13053G>A (p.Ala4351=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565390G>C | CA507355852 | RYR1 | c.1466G>C c.1448G>C c.13056G>C (p.Ala4352=) c.13041G>C (p.Ala4347=) c.13038G>C (p.Ala4346=) c.13023G>C (p.Ala4341=) c.13053G>C (p.Ala4351=) | |
19 | g.38565390G= | CA2335084854 | RYR1 | c.1466G= c.1448G= c.13056G= (p.Ala4352=) c.13041G= (p.Ala4347=) c.13038G= (p.Ala4346=) c.13023G= (p.Ala4341=) c.13053G= (p.Ala4351=) | |
19 | g.38565390G>T | CA507355853 | RYR1 | c.1466G>T c.1448G>T c.13056G>T (p.Ala4352=) c.13041G>T (p.Ala4347=) c.13038G>T (p.Ala4346=) c.13023G>T (p.Ala4341=) c.13053G>T (p.Ala4351=) | gnomAD v4 |
19 | g.38565392del | CA882058936 | RYR1 | c.1468del c.1450del c.13058del (p.Gly4353AlafsTer22) c.13043del (p.Gly4348AlafsTer22) c.13040del (p.Gly4347AlafsTer22) c.13025del (p.Gly4342AlafsTer22) c.13055del (p.Gly4352AlafsTer22) | ClinVar dbSNP gnomAD v4 |
19 | g.38565391G>A | CA405673266 | RYR1 | c.1467G>A c.1449G>A c.13057G>A (p.Gly4353Ser) c.13042G>A (p.Gly4348Ser) c.13039G>A (p.Gly4347Ser) c.13024G>A (p.Gly4342Ser) c.13054G>A (p.Gly4352Ser) | gnomAD v4 |
19 | g.38565391G>C | CA405673268 | RYR1 | c.1467G>C c.1449G>C c.13057G>C (p.Gly4353Arg) c.13042G>C (p.Gly4348Arg) c.13039G>C (p.Gly4347Arg) c.13024G>C (p.Gly4342Arg) c.13054G>C (p.Gly4352Arg) | |
19 | g.38565391G>T | CA405673271 | RYR1 | c.1467G>T c.1449G>T c.13057G>T (p.Gly4353Cys) c.13042G>T (p.Gly4348Cys) c.13039G>T (p.Gly4347Cys) c.13024G>T (p.Gly4342Cys) c.13054G>T (p.Gly4352Cys) | gnomAD v4 |
19 | g.38565392G>A | CA308109483 | RYR1 | c.1468G>A c.1450G>A c.13058G>A (p.Gly4353Asp) c.13043G>A (p.Gly4348Asp) c.13040G>A (p.Gly4347Asp) c.13025G>A (p.Gly4342Asp) c.13055G>A (p.Gly4352Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565392G>C | CA405673273 | RYR1 | c.1468G>C c.1450G>C c.13058G>C (p.Gly4353Ala) c.13043G>C (p.Gly4348Ala) c.13040G>C (p.Gly4347Ala) c.13025G>C (p.Gly4342Ala) c.13055G>C (p.Gly4352Ala) | gnomAD v4 |
19 | g.38565392G= | CA2335084855 | RYR1 | c.1468G= c.1450G= c.13058G= (p.Gly4353=) c.13043G= (p.Gly4348=) c.13040G= (p.Gly4347=) c.13025G= (p.Gly4342=) c.13055G= (p.Gly4352=) | |
19 | g.38565392G>T | CA405673276 | RYR1 | c.1468G>T c.1450G>T c.13058G>T (p.Gly4353Val) c.13043G>T (p.Gly4348Val) c.13040G>T (p.Gly4347Val) c.13025G>T (p.Gly4342Val) c.13055G>T (p.Gly4352Val) | dbSNP gnomAD v4 |
19 | g.38565393C>A | CA507355857 | RYR1 | c.1469C>A c.1451C>A c.13059C>A (p.Gly4353=) c.13044C>A (p.Gly4348=) c.13041C>A (p.Gly4347=) c.13026C>A (p.Gly4342=) c.13056C>A (p.Gly4352=) | gnomAD v4 |
19 | g.38565393C= | CA2335084856 | RYR1 | c.1469C= c.1451C= c.13059C= (p.Gly4353=) c.13044C= (p.Gly4348=) c.13041C= (p.Gly4347=) c.13026C= (p.Gly4342=) c.13056C= (p.Gly4352=) | |
19 | g.38565393C>G | CA308109484 | RYR1 | c.1469C>G c.1451C>G c.13059C>G (p.Gly4353=) c.13044C>G (p.Gly4348=) c.13041C>G (p.Gly4347=) c.13026C>G (p.Gly4342=) c.13056C>G (p.Gly4352=) | dbSNP |
19 | g.38565393C>T | CA507355858 | RYR1 | c.1469C>T c.1451C>T c.13059C>T (p.Gly4353=) c.13044C>T (p.Gly4348=) c.13041C>T (p.Gly4347=) c.13026C>T (p.Gly4342=) c.13056C>T (p.Gly4352=) | gnomAD v4 |
19 | g.38565394G>A | CA405673279 | RYR1 | c.1470G>A c.1452G>A c.13060G>A (p.Ala4354Thr) c.13045G>A (p.Ala4349Thr) c.13042G>A (p.Ala4348Thr) c.13027G>A (p.Ala4343Thr) c.13057G>A (p.Ala4353Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565394G>C | CA405673281 | RYR1 | c.1470G>C c.1452G>C c.13060G>C (p.Ala4354Pro) c.13045G>C (p.Ala4349Pro) c.13042G>C (p.Ala4348Pro) c.13027G>C (p.Ala4343Pro) c.13057G>C (p.Ala4353Pro) | |
19 | g.38565394G= | CA2335084857 | RYR1 | c.1470G= c.1452G= c.13060G= (p.Ala4354=) c.13045G= (p.Ala4349=) c.13042G= (p.Ala4348=) c.13027G= (p.Ala4343=) c.13057G= (p.Ala4353=) | |
19 | g.38565394G>T | CA405673284 | RYR1 | c.1470G>T c.1452G>T c.13060G>T (p.Ala4354Ser) c.13045G>T (p.Ala4349Ser) c.13042G>T (p.Ala4348Ser) c.13027G>T (p.Ala4343Ser) c.13057G>T (p.Ala4353Ser) | dbSNP gnomAD v4 |
19 | g.38565395C>A | CA405673286 | RYR1 | c.1471C>A c.1453C>A c.13061C>A (p.Ala4354Glu) c.13046C>A (p.Ala4349Glu) c.13043C>A (p.Ala4348Glu) c.13028C>A (p.Ala4343Glu) c.13058C>A (p.Ala4353Glu) | gnomAD v4 |
19 | g.38565395C>G | CA405673288 | RYR1 | c.1471C>G c.1453C>G c.13061C>G (p.Ala4354Gly) c.13046C>G (p.Ala4349Gly) c.13043C>G (p.Ala4348Gly) c.13028C>G (p.Ala4343Gly) c.13058C>G (p.Ala4353Gly) | |
19 | g.38565395C>T | CA405673291 | RYR1 | c.1471C>T c.1453C>T c.13061C>T (p.Ala4354Val) c.13046C>T (p.Ala4349Val) c.13043C>T (p.Ala4348Val) c.13028C>T (p.Ala4343Val) c.13058C>T (p.Ala4353Val) | gnomAD v4 |
19 | g.38565396G>A | CA507355860 | RYR1 | c.1472G>A c.1454G>A c.13062G>A (p.Ala4354=) c.13047G>A (p.Ala4349=) c.13044G>A (p.Ala4348=) c.13029G>A (p.Ala4343=) c.13059G>A (p.Ala4353=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565396G>C | CA507355862 | RYR1 | c.1472G>C c.1454G>C c.13062G>C (p.Ala4354=) c.13047G>C (p.Ala4349=) c.13044G>C (p.Ala4348=) c.13029G>C (p.Ala4343=) c.13059G>C (p.Ala4353=) | |
19 | g.38565396G= | CA2335084858 | RYR1 | c.1472G= c.1454G= c.13062G= (p.Ala4354=) c.13047G= (p.Ala4349=) c.13044G= (p.Ala4348=) c.13029G= (p.Ala4343=) c.13059G= (p.Ala4353=) | |
19 | g.38565396G>T | CA507355863 | RYR1 | c.1472G>T c.1454G>T c.13062G>T (p.Ala4354=) c.13047G>T (p.Ala4349=) c.13044G>T (p.Ala4348=) c.13029G>T (p.Ala4343=) c.13059G>T (p.Ala4353=) | ClinVar dbSNP gnomAD v4 |
19 | g.38565396_38565407delinsGCTGGGCCTGCT | CA2335084859 | RYR1 | c.1472_1483delinsGCTGGGCCTGCT c.1454_1465delinsGCTGGGCCTGCT c.13062_13073delinsGCTGGGCCTGCT (p.Ala4354=) c.13047_13058delinsGCTGGGCCTGCT (p.Ala4349=) c.13044_13055delinsGCTGGGCCTGCT (p.Ala4348=) c.13029_13040delinsGCTGGGCCTGCT (p.Ala4343=) c.13059_13070delinsGCTGGGCCTGCT (p.Ala4353=) | |
19 | g.38565397C>A | CA405673297 | RYR1 | c.1473C>A c.1455C>A c.13063C>A (p.Leu4355Met) c.13048C>A (p.Leu4350Met) c.13045C>A (p.Leu4349Met) c.13030C>A (p.Leu4344Met) c.13060C>A (p.Leu4354Met) | gnomAD v4 |
19 | g.38565397C= | CA2335084860 | RYR1 | c.1473C= c.1455C= c.13063C= (p.Leu4355=) c.13048C= (p.Leu4350=) c.13045C= (p.Leu4349=) c.13030C= (p.Leu4344=) c.13060C= (p.Leu4354=) | |
19 | g.38565397C>G | CA405673294 | RYR1 | c.1473C>G c.1455C>G c.13063C>G (p.Leu4355Val) c.13048C>G (p.Leu4350Val) c.13045C>G (p.Leu4349Val) c.13030C>G (p.Leu4344Val) c.13060C>G (p.Leu4354Val) | |
19 | g.38565397C>T | CA507355865 | RYR1 | c.1473C>T c.1455C>T c.13063C>T (p.Leu4355=) c.13048C>T (p.Leu4350=) c.13045C>T (p.Leu4349=) c.13030C>T (p.Leu4344=) c.13060C>T (p.Leu4354=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565402_38565412del | CA1139666438 | RYR1 | c.1478_1488del c.1460_1470del c.13068_13078del (p.Leu4358AlafsTer?) c.13053_13063del (p.Leu4353AlafsTer?) c.13050_13060del (p.Leu4352AlafsTer?) c.13035_13045del (p.Leu4347AlafsTer?) c.13065_13075del (p.Leu4357AlafsTer?) | ClinVar dbSNP |
19 | g.38565398T>A | CA405673299 | RYR1 | c.1474T>A c.1456T>A c.13064T>A (p.Leu4355Gln) c.13049T>A (p.Leu4350Gln) c.13046T>A (p.Leu4349Gln) c.13031T>A (p.Leu4344Gln) c.13061T>A (p.Leu4354Gln) | |
19 | g.38565398T>C | CA405673303 | RYR1 | c.1474T>C c.1456T>C c.13064T>C (p.Leu4355Pro) c.13049T>C (p.Leu4350Pro) c.13046T>C (p.Leu4349Pro) c.13031T>C (p.Leu4344Pro) c.13061T>C (p.Leu4354Pro) | ClinVar dbSNP gnomAD v4 |
19 | g.38565398T>G | CA405673300 | RYR1 | c.1474T>G c.1456T>G c.13064T>G (p.Leu4355Arg) c.13049T>G (p.Leu4350Arg) c.13046T>G (p.Leu4349Arg) c.13031T>G (p.Leu4344Arg) c.13061T>G (p.Leu4354Arg) | |
19 | g.38565399G>A | CA507355866 | RYR1 | c.1G>A c.1475G>A c.1457G>A c.13065G>A (p.Leu4355=) c.13050G>A (p.Leu4350=) c.13047G>A (p.Leu4349=) c.13032G>A (p.Leu4344=) c.13062G>A (p.Leu4354=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565399G>C | CA507355868 | RYR1 | c.1G>C c.1475G>C c.1457G>C c.13065G>C (p.Leu4355=) c.13050G>C (p.Leu4350=) c.13047G>C (p.Leu4349=) c.13032G>C (p.Leu4344=) c.13062G>C (p.Leu4354=) | gnomAD v4 |
19 | g.38565399G= | CA2335084861 | RYR1 | c.1G= c.1475G= c.1457G= c.13065G= (p.Leu4355=) c.13050G= (p.Leu4350=) c.13047G= (p.Leu4349=) c.13032G= (p.Leu4344=) c.13062G= (p.Leu4354=) | |
19 | g.38565399G>T | CA507355867 | RYR1 | c.1G>T c.1475G>T c.1457G>T c.13065G>T (p.Leu4355=) c.13050G>T (p.Leu4350=) c.13047G>T (p.Leu4349=) c.13032G>T (p.Leu4344=) c.13062G>T (p.Leu4354=) | gnomAD v4 |
19 | g.38565401del | CA2584909148 | RYR1 | c.3del c.1477del c.1459del c.13067del (p.Gly4356AlafsTer19) c.13052del (p.Gly4351AlafsTer19) c.13049del (p.Gly4350AlafsTer19) c.13034del (p.Gly4345AlafsTer19) c.13064del (p.Gly4355AlafsTer19) | gnomAD v4 |
19 | g.38565400G>A | CA405673306 | RYR1 | c.2G>A c.1476G>A c.1458G>A c.13066G>A (p.Gly4356Ser) c.13051G>A (p.Gly4351Ser) c.13048G>A (p.Gly4350Ser) c.13033G>A (p.Gly4345Ser) c.13063G>A (p.Gly4355Ser) | gnomAD v4 |
19 | g.38565400G>C | CA405673309 | RYR1 | c.2G>C c.1476G>C c.1458G>C c.13066G>C (p.Gly4356Arg) c.13051G>C (p.Gly4351Arg) c.13048G>C (p.Gly4350Arg) c.13033G>C (p.Gly4345Arg) c.13063G>C (p.Gly4355Arg) | |
19 | g.38565400G= | CA2335084862 | RYR1 | c.2G= c.1476G= c.1458G= c.13066G= (p.Gly4356=) c.13051G= (p.Gly4351=) c.13048G= (p.Gly4350=) c.13033G= (p.Gly4345=) c.13063G= (p.Gly4355=) | |
19 | g.38565400G>T | CA405673311 | RYR1 | c.2G>T c.1476G>T c.1458G>T c.13066G>T (p.Gly4356Cys) c.13051G>T (p.Gly4351Cys) c.13048G>T (p.Gly4350Cys) c.13033G>T (p.Gly4345Cys) c.13063G>T (p.Gly4355Cys) | ClinVar dbSNP gnomAD v4 |
19 | g.38565401G>A | CA405673315 | RYR1 | c.3G>A c.1477G>A c.1459G>A c.13067G>A (p.Gly4356Asp) c.13052G>A (p.Gly4351Asp) c.13049G>A (p.Gly4350Asp) c.13034G>A (p.Gly4345Asp) c.13064G>A (p.Gly4355Asp) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565401G>C | CA405673316 | RYR1 | c.3G>C c.1477G>C c.1459G>C c.13067G>C (p.Gly4356Ala) c.13052G>C (p.Gly4351Ala) c.13049G>C (p.Gly4350Ala) c.13034G>C (p.Gly4345Ala) c.13064G>C (p.Gly4355Ala) | |
19 | g.38565401G= | CA2335084863 | RYR1 | c.3G= c.1477G= c.1459G= c.13067G= (p.Gly4356=) c.13052G= (p.Gly4351=) c.13049G= (p.Gly4350=) c.13034G= (p.Gly4345=) c.13064G= (p.Gly4355=) | |
19 | g.38565401G>T | CA405673318 | RYR1 | c.3G>T c.1477G>T c.1459G>T c.13067G>T (p.Gly4356Val) c.13052G>T (p.Gly4351Val) c.13049G>T (p.Gly4350Val) c.13034G>T (p.Gly4345Val) c.13064G>T (p.Gly4355Val) | gnomAD v4 |
19 | g.38565402C>A | CA507355870 | RYR1 | c.4C>A c.1478C>A c.1460C>A c.13068C>A (p.Gly4356=) c.13053C>A (p.Gly4351=) c.13050C>A (p.Gly4350=) c.13035C>A (p.Gly4345=) c.13065C>A (p.Gly4355=) | gnomAD v4 |
19 | g.38565402C= | CA2335084864 | RYR1 | c.4C= c.1478C= c.1460C= c.13068C= (p.Gly4356=) c.13053C= (p.Gly4351=) c.13050C= (p.Gly4350=) c.13035C= (p.Gly4345=) c.13065C= (p.Gly4355=) | |
19 | g.38565402C>G | CA507355871 | RYR1 | c.4C>G c.1478C>G c.1460C>G c.13068C>G (p.Gly4356=) c.13053C>G (p.Gly4351=) c.13050C>G (p.Gly4350=) c.13035C>G (p.Gly4345=) c.13065C>G (p.Gly4355=) | |
19 | g.38565402C>T | CA507355872 | RYR1 | c.4C>T c.1478C>T c.1460C>T c.13068C>T (p.Gly4356=) c.13053C>T (p.Gly4351=) c.13050C>T (p.Gly4350=) c.13035C>T (p.Gly4345=) c.13065C>T (p.Gly4355=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565403C>A | CA405673327 | RYR1 | c.5C>A c.1479C>A c.1461C>A c.13069C>A (p.Leu4357Met) c.13054C>A (p.Leu4352Met) c.13051C>A (p.Leu4351Met) c.13036C>A (p.Leu4346Met) c.13066C>A (p.Leu4356Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565403C= | CA2335084865 | RYR1 | c.5C= c.1479C= c.1461C= c.13069C= (p.Leu4357=) c.13054C= (p.Leu4352=) c.13051C= (p.Leu4351=) c.13036C= (p.Leu4346=) c.13066C= (p.Leu4356=) | |
19 | g.38565403C>G | CA405673329 | RYR1 | c.5C>G c.1479C>G c.1461C>G c.13069C>G (p.Leu4357Val) c.13054C>G (p.Leu4352Val) c.13051C>G (p.Leu4351Val) c.13036C>G (p.Leu4346Val) c.13066C>G (p.Leu4356Val) | gnomAD v4 |
19 | g.38565403C>T | CA507355873 | RYR1 | c.5C>T c.1479C>T c.1461C>T c.13069C>T (p.Leu4357=) c.13054C>T (p.Leu4352=) c.13051C>T (p.Leu4351=) c.13036C>T (p.Leu4346=) c.13066C>T (p.Leu4356=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565404T>A | CA405673340 | RYR1 | c.6T>A c.1480T>A c.1462T>A c.13070T>A (p.Leu4357Gln) c.13055T>A (p.Leu4352Gln) c.13052T>A (p.Leu4351Gln) c.13037T>A (p.Leu4346Gln) c.13067T>A (p.Leu4356Gln) | |
19 | g.38565404T>C | CA405673342 | RYR1 | c.6T>C c.1480T>C c.1462T>C c.13070T>C (p.Leu4357Pro) c.13055T>C (p.Leu4352Pro) c.13052T>C (p.Leu4351Pro) c.13037T>C (p.Leu4346Pro) c.13067T>C (p.Leu4356Pro) | gnomAD v4 |
19 | g.38565404T>G | CA405673346 | RYR1 | c.6T>G c.1480T>G c.1462T>G c.13070T>G (p.Leu4357Arg) c.13055T>G (p.Leu4352Arg) c.13052T>G (p.Leu4351Arg) c.13037T>G (p.Leu4346Arg) c.13067T>G (p.Leu4356Arg) | gnomAD v4 |
19 | g.38565405G>A | CA507355876 | RYR1 | c.7G>A c.1481G>A c.1463G>A c.13071G>A (p.Leu4357=) c.13056G>A (p.Leu4352=) c.13053G>A (p.Leu4351=) c.13038G>A (p.Leu4346=) c.13068G>A (p.Leu4356=) | gnomAD v4 |
19 | g.38565405G>C | CA507355879 | RYR1 | c.7G>C c.1481G>C c.1463G>C c.13071G>C (p.Leu4357=) c.13056G>C (p.Leu4352=) c.13053G>C (p.Leu4351=) c.13038G>C (p.Leu4346=) c.13068G>C (p.Leu4356=) | ClinVar dbSNP |
19 | g.38565405G>T | CA507355877 | RYR1 | c.7G>T c.1481G>T c.1463G>T c.13071G>T (p.Leu4357=) c.13056G>T (p.Leu4352=) c.13053G>T (p.Leu4351=) c.13038G>T (p.Leu4346=) c.13068G>T (p.Leu4356=) | gnomAD v4 |
19 | g.38565406C>A | CA405673354 | RYR1 | c.8C>A c.1482C>A c.1464C>A c.13072C>A (p.Leu4358Ile) c.13057C>A (p.Leu4353Ile) c.13054C>A (p.Leu4352Ile) c.13039C>A (p.Leu4347Ile) c.13069C>A (p.Leu4357Ile) | gnomAD v4 |
19 | g.38565406C>G | CA405673351 | RYR1 | c.8C>G c.1482C>G c.1464C>G c.13072C>G (p.Leu4358Val) c.13057C>G (p.Leu4353Val) c.13054C>G (p.Leu4352Val) c.13039C>G (p.Leu4347Val) c.13069C>G (p.Leu4357Val) | |
19 | g.38565406C>T | CA405673348 | RYR1 | c.8C>T c.1482C>T c.1464C>T c.13072C>T (p.Leu4358Phe) c.13057C>T (p.Leu4353Phe) c.13054C>T (p.Leu4352Phe) c.13039C>T (p.Leu4347Phe) c.13069C>T (p.Leu4357Phe) | gnomAD v4 |
19 | g.38565407T>A | CA405673356 | RYR1 | c.9T>A c.1483T>A c.1465T>A c.13073T>A (p.Leu4358His) c.13058T>A (p.Leu4353His) c.13055T>A (p.Leu4352His) c.13040T>A (p.Leu4347His) c.13070T>A (p.Leu4357His) | |
19 | g.38565407T>C | CA405673357 | RYR1 | c.9T>C c.1483T>C c.1465T>C c.13073T>C (p.Leu4358Pro) c.13058T>C (p.Leu4353Pro) c.13055T>C (p.Leu4352Pro) c.13040T>C (p.Leu4347Pro) c.13070T>C (p.Leu4357Pro) | gnomAD v4 |
19 | g.38565407T>G | CA405673359 | RYR1 | c.9T>G c.1483T>G c.1465T>G c.13073T>G (p.Leu4358Arg) c.13058T>G (p.Leu4353Arg) c.13055T>G (p.Leu4352Arg) c.13040T>G (p.Leu4347Arg) c.13070T>G (p.Leu4357Arg) | |
19 | g.38565408C>A | CA507355880 | RYR1 | c.10C>A c.1484C>A c.1466C>A c.13074C>A (p.Leu4358=) c.13059C>A (p.Leu4353=) c.13056C>A (p.Leu4352=) c.13041C>A (p.Leu4347=) c.13071C>A (p.Leu4357=) | gnomAD v4 |
19 | g.38565408C= | CA2335084866 | RYR1 | c.10C= c.1484C= c.1466C= c.13074C= (p.Leu4358=) c.13059C= (p.Leu4353=) c.13056C= (p.Leu4352=) c.13041C= (p.Leu4347=) c.13071C= (p.Leu4357=) | |
19 | g.38565408C>G | CA507355881 | RYR1 | c.10C>G c.1484C>G c.1466C>G c.13074C>G (p.Leu4358=) c.13059C>G (p.Leu4353=) c.13056C>G (p.Leu4352=) c.13041C>G (p.Leu4347=) c.13071C>G (p.Leu4357=) | dbSNP |
19 | g.38565408C>T | CA507355882 | RYR1 | c.10C>T c.1484C>T c.1466C>T c.13074C>T (p.Leu4358=) c.13059C>T (p.Leu4353=) c.13056C>T (p.Leu4352=) c.13041C>T (p.Leu4347=) c.13071C>T (p.Leu4357=) | ClinVar gnomAD v4 |
19 | g.38565409T>A | CA405673363 | RYR1 | c.11T>A c.1485T>A c.1467T>A c.13075T>A (p.Trp4359Arg) c.13060T>A (p.Trp4354Arg) c.13057T>A (p.Trp4353Arg) c.13042T>A (p.Trp4348Arg) c.13072T>A (p.Trp4358Arg) | |
19 | g.38565409T>C | CA405673365 | RYR1 | c.11T>C c.1485T>C c.1467T>C c.13075T>C (p.Trp4359Arg) c.13060T>C (p.Trp4354Arg) c.13057T>C (p.Trp4353Arg) c.13042T>C (p.Trp4348Arg) c.13072T>C (p.Trp4358Arg) | |
19 | g.38565409T>G | CA405673367 | RYR1 | c.11T>G c.1485T>G c.1467T>G c.13075T>G (p.Trp4359Gly) c.13060T>G (p.Trp4354Gly) c.13057T>G (p.Trp4353Gly) c.13042T>G (p.Trp4348Gly) c.13072T>G (p.Trp4358Gly) | gnomAD v4 |
19 | g.38565410G>A | CA405673372 | RYR1 | c.12G>A c.1486G>A c.1468G>A c.13076G>A (p.Trp4359Ter) c.13061G>A (p.Trp4354Ter) c.13058G>A (p.Trp4353Ter) c.13043G>A (p.Trp4348Ter) c.13073G>A (p.Trp4358Ter) | gnomAD v4 |
19 | g.38565410G>C | CA405673373 | RYR1 | c.12G>C c.1486G>C c.1468G>C c.13076G>C (p.Trp4359Ser) c.13061G>C (p.Trp4354Ser) c.13058G>C (p.Trp4353Ser) c.13043G>C (p.Trp4348Ser) c.13073G>C (p.Trp4358Ser) | |
19 | g.38565410G>T | CA405673375 | RYR1 | c.12G>T c.1486G>T c.1468G>T c.13076G>T (p.Trp4359Leu) c.13061G>T (p.Trp4354Leu) c.13058G>T (p.Trp4353Leu) c.13043G>T (p.Trp4348Leu) c.13073G>T (p.Trp4358Leu) | gnomAD v4 |
19 | g.38565411G>A | CA405673376 | RYR1 | c.13G>A c.1487G>A c.1469G>A c.13077G>A (p.Trp4359Ter) c.13062G>A (p.Trp4354Ter) c.13059G>A (p.Trp4353Ter) c.13044G>A (p.Trp4348Ter) c.13074G>A (p.Trp4358Ter) | gnomAD v4 |
19 | g.38565411G>C | CA405673378 | RYR1 | c.13G>C c.1487G>C c.1469G>C c.13077G>C (p.Trp4359Cys) c.13062G>C (p.Trp4354Cys) c.13059G>C (p.Trp4353Cys) c.13044G>C (p.Trp4348Cys) c.13074G>C (p.Trp4358Cys) | |
19 | g.38565411G>T | CA405673380 | RYR1 | c.13G>T c.1487G>T c.1469G>T c.13077G>T (p.Trp4359Cys) c.13062G>T (p.Trp4354Cys) c.13059G>T (p.Trp4353Cys) c.13044G>T (p.Trp4348Cys) c.13074G>T (p.Trp4358Cys) | gnomAD v4 |
19 | g.38565412G>A | CA405673383 | RYR1 | c.14G>A c.1488G>A c.1470G>A c.13078G>A (p.Gly4360Ser) c.13063G>A (p.Gly4355Ser) c.13060G>A (p.Gly4354Ser) c.13045G>A (p.Gly4349Ser) c.13075G>A (p.Gly4359Ser) | |
19 | g.38565412G>C | CA405673382 | RYR1 | c.14G>C c.1488G>C c.1470G>C c.13078G>C (p.Gly4360Arg) c.13063G>C (p.Gly4355Arg) c.13060G>C (p.Gly4354Arg) c.13045G>C (p.Gly4349Arg) c.13075G>C (p.Gly4359Arg) | |
19 | g.38565412G>T | CA405673381 | RYR1 | c.14G>T c.1488G>T c.1470G>T c.13078G>T (p.Gly4360Cys) c.13063G>T (p.Gly4355Cys) c.13060G>T (p.Gly4354Cys) c.13045G>T (p.Gly4349Cys) c.13075G>T (p.Gly4359Cys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565413G>A | CA405673388 | RYR1 | c.15G>A c.1489G>A c.1471G>A c.13079G>A (p.Gly4360Asp) c.13064G>A (p.Gly4355Asp) c.13061G>A (p.Gly4354Asp) c.13046G>A (p.Gly4349Asp) c.13076G>A (p.Gly4359Asp) | gnomAD v4 |
19 | g.38565413G>C | CA405673385 | RYR1 | c.15G>C c.1489G>C c.1471G>C c.13079G>C (p.Gly4360Ala) c.13064G>C (p.Gly4355Ala) c.13061G>C (p.Gly4354Ala) c.13046G>C (p.Gly4349Ala) c.13076G>C (p.Gly4359Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565413G= | CA2335084867 | RYR1 | c.15G= c.1489G= c.1471G= c.13079G= (p.Gly4360=) c.13064G= (p.Gly4355=) c.13061G= (p.Gly4354=) c.13046G= (p.Gly4349=) c.13076G= (p.Gly4359=) | |
19 | g.38565413G>T | CA405673386 | RYR1 | c.15G>T c.1489G>T c.1471G>T c.13079G>T (p.Gly4360Val) c.13064G>T (p.Gly4355Val) c.13061G>T (p.Gly4354Val) c.13046G>T (p.Gly4349Val) c.13076G>T (p.Gly4359Val) | dbSNP gnomAD v4 |
19 | g.38565414C>A | CA507355889 | RYR1 | c.16C>A c.1490C>A c.1472C>A c.13080C>A (p.Gly4360=) c.13065C>A (p.Gly4355=) c.13062C>A (p.Gly4354=) c.13047C>A (p.Gly4349=) c.13077C>A (p.Gly4359=) | gnomAD v4 |
19 | g.38565414C>G | CA507355886 | RYR1 | c.16C>G c.1490C>G c.1472C>G c.13080C>G (p.Gly4360=) c.13065C>G (p.Gly4355=) c.13062C>G (p.Gly4354=) c.13047C>G (p.Gly4349=) c.13077C>G (p.Gly4359=) | |
19 | g.38565414C>T | CA507355888 | RYR1 | c.16C>T c.1490C>T c.1472C>T c.13080C>T (p.Gly4360=) c.13065C>T (p.Gly4355=) c.13062C>T (p.Gly4354=) c.13047C>T (p.Gly4349=) c.13077C>T (p.Gly4359=) | ClinVar gnomAD v4 |
19 | g.38565415T>A | CA059555 | RYR1 | c.17T>A c.1491T>A c.1473T>A c.13081T>A (p.Ser4361Thr) c.13066T>A (p.Ser4356Thr) c.13063T>A (p.Ser4355Thr) c.13048T>A (p.Ser4350Thr) c.13078T>A (p.Ser4360Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565415T>C | CA405673390 | RYR1 | c.17T>C c.1491T>C c.1473T>C c.13081T>C (p.Ser4361Pro) c.13066T>C (p.Ser4356Pro) c.13063T>C (p.Ser4355Pro) c.13048T>C (p.Ser4350Pro) c.13078T>C (p.Ser4360Pro) | gnomAD v4 |
19 | g.38565415T>G | CA405673392 | RYR1 | c.17T>G c.1491T>G c.1473T>G c.13081T>G (p.Ser4361Ala) c.13066T>G (p.Ser4356Ala) c.13063T>G (p.Ser4355Ala) c.13048T>G (p.Ser4350Ala) c.13078T>G (p.Ser4360Ala) | |
19 | g.38565415T= | CA2335084868 | RYR1 | c.17T= c.1491T= c.1473T= c.13081T= (p.Ser4361=) c.13066T= (p.Ser4356=) c.13063T= (p.Ser4355=) c.13048T= (p.Ser4350=) c.13078T= (p.Ser4360=) | |
19 | g.38565416del | CA2814346223 | RYR1 | c.18del c.1492del c.1474del c.13082del (p.Ser4361CysfsTer14) c.13067del (p.Ser4356CysfsTer14) c.13064del (p.Ser4355CysfsTer14) c.13049del (p.Ser4350CysfsTer14) c.13079del (p.Ser4360CysfsTer14) | |
19 | g.38565416C>A | CA405673393 | RYR1 | c.18C>A c.1492C>A c.1474C>A c.13082C>A (p.Ser4361Ter) c.13067C>A (p.Ser4356Ter) c.13064C>A (p.Ser4355Ter) c.13049C>A (p.Ser4350Ter) c.13079C>A (p.Ser4360Ter) | gnomAD v4 |
19 | g.38565416C= | CA2335084869 | RYR1 | c.18C= c.1492C= c.1474C= c.13082C= (p.Ser4361=) c.13067C= (p.Ser4356=) c.13064C= (p.Ser4355=) c.13049C= (p.Ser4350=) c.13079C= (p.Ser4360=) | |
19 | g.38565416C>G | CA405673394 | RYR1 | c.18C>G c.1492C>G c.1474C>G c.13082C>G (p.Ser4361Trp) c.13067C>G (p.Ser4356Trp) c.13064C>G (p.Ser4355Trp) c.13049C>G (p.Ser4350Trp) c.13079C>G (p.Ser4360Trp) | |
19 | g.38565416C>T | CA405673395 | RYR1 | c.18C>T c.1492C>T c.1474C>T c.13082C>T (p.Ser4361Leu) c.13067C>T (p.Ser4356Leu) c.13064C>T (p.Ser4355Leu) c.13049C>T (p.Ser4350Leu) c.13079C>T (p.Ser4360Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565417G>A | CA507355890 | RYR1 | c.19G>A c.1493G>A c.1475G>A c.13083G>A (p.Ser4361=) c.13068G>A (p.Ser4356=) c.13065G>A (p.Ser4355=) c.13050G>A (p.Ser4350=) c.13080G>A (p.Ser4360=) | ClinVar gnomAD v4 |
19 | g.38565417G>C | CA507355891 | RYR1 | c.19G>C c.1493G>C c.1475G>C c.13083G>C (p.Ser4361=) c.13068G>C (p.Ser4356=) c.13065G>C (p.Ser4355=) c.13050G>C (p.Ser4350=) c.13080G>C (p.Ser4360=) | gnomAD v4 |
19 | g.38565417G>T | CA507355892 | RYR1 | c.19G>T c.1493G>T c.1475G>T c.13083G>T (p.Ser4361=) c.13068G>T (p.Ser4356=) c.13065G>T (p.Ser4355=) c.13050G>T (p.Ser4350=) c.13080G>T (p.Ser4360=) | gnomAD v4 |
19 | g.38565418C>A | CA405673396 | RYR1 | c.20C>A c.1494C>A c.1476C>A c.13084C>A (p.Leu4362Met) c.13069C>A (p.Leu4357Met) c.13066C>A (p.Leu4356Met) c.13051C>A (p.Leu4351Met) c.13081C>A (p.Leu4361Met) | gnomAD v4 |
19 | g.38565418C= | CA2335084870 | RYR1 | c.20C= c.1494C= c.1476C= c.13084C= (p.Leu4362=) c.13069C= (p.Leu4357=) c.13066C= (p.Leu4356=) c.13051C= (p.Leu4351=) c.13081C= (p.Leu4361=) | |
19 | g.38565418C>G | CA405673397 | RYR1 | c.20C>G c.1494C>G c.1476C>G c.13084C>G (p.Leu4362Val) c.13069C>G (p.Leu4357Val) c.13066C>G (p.Leu4356Val) c.13051C>G (p.Leu4351Val) c.13081C>G (p.Leu4361Val) | gnomAD v4 |
19 | g.38565418C>T | CA507355893 | RYR1 | c.20C>T c.1494C>T c.1476C>T c.13084C>T (p.Leu4362=) c.13069C>T (p.Leu4357=) c.13066C>T (p.Leu4356=) c.13051C>T (p.Leu4351=) c.13081C>T (p.Leu4361=) | dbSNP gnomAD v4 |
19 | g.38565421_38565435del | CA2576772105 | RYR1 | c.23_37del c.1497_1511del c.1479_1493del c.13087_13101del (p.Phe4363_Leu4367del) c.13072_13086del (p.Phe4358_Leu4362del) c.13069_13083del (p.Phe4357_Leu4361del) c.13054_13068del (p.Phe4352_Leu4356del) c.13084_13098del (p.Phe4362_Leu4366del) | |
19 | g.38565419T>A | CA405673400 | RYR1 | c.21T>A c.1495T>A c.1477T>A c.13085T>A (p.Leu4362Gln) c.13070T>A (p.Leu4357Gln) c.13067T>A (p.Leu4356Gln) c.13052T>A (p.Leu4351Gln) c.13082T>A (p.Leu4361Gln) | |
19 | g.38565419T>C | CA405673402 | RYR1 | c.21T>C c.1495T>C c.1477T>C c.13085T>C (p.Leu4362Pro) c.13070T>C (p.Leu4357Pro) c.13067T>C (p.Leu4356Pro) c.13052T>C (p.Leu4351Pro) c.13082T>C (p.Leu4361Pro) | gnomAD v4 |
19 | g.38565419T>G | CA405673403 | RYR1 | c.21T>G c.1495T>G c.1477T>G c.13085T>G (p.Leu4362Arg) c.13070T>G (p.Leu4357Arg) c.13067T>G (p.Leu4356Arg) c.13052T>G (p.Leu4351Arg) c.13082T>G (p.Leu4361Arg) | |
19 | g.38565420G>A | CA507355895 | RYR1 | c.22G>A c.1496G>A c.1478G>A c.13086G>A (p.Leu4362=) c.13071G>A (p.Leu4357=) c.13068G>A (p.Leu4356=) c.13053G>A (p.Leu4351=) c.13083G>A (p.Leu4361=) | gnomAD v4 |
19 | g.38565420G>C | CA507355898 | RYR1 | c.22G>C c.1496G>C c.1478G>C c.13086G>C (p.Leu4362=) c.13071G>C (p.Leu4357=) c.13068G>C (p.Leu4356=) c.13053G>C (p.Leu4351=) c.13083G>C (p.Leu4361=) | ClinVar |
19 | g.38565420G>T | CA507355896 | RYR1 | c.22G>T c.1496G>T c.1478G>T c.13086G>T (p.Leu4362=) c.13071G>T (p.Leu4357=) c.13068G>T (p.Leu4356=) c.13053G>T (p.Leu4351=) c.13083G>T (p.Leu4361=) | |
19 | g.38565421T>A | CA405673406 | RYR1 | c.23T>A c.1497T>A c.1479T>A c.13087T>A (p.Phe4363Ile) c.13072T>A (p.Phe4358Ile) c.13069T>A (p.Phe4357Ile) c.13054T>A (p.Phe4352Ile) c.13084T>A (p.Phe4362Ile) | |
19 | g.38565421T>C | CA405673404 | RYR1 | c.23T>C c.1497T>C c.1479T>C c.13087T>C (p.Phe4363Leu) c.13072T>C (p.Phe4358Leu) c.13069T>C (p.Phe4357Leu) c.13054T>C (p.Phe4352Leu) c.13084T>C (p.Phe4362Leu) | dbSNP gnomAD v4 |
19 | g.38565421T>G | CA405673405 | RYR1 | c.23T>G c.1497T>G c.1479T>G c.13087T>G (p.Phe4363Val) c.13072T>G (p.Phe4358Val) c.13069T>G (p.Phe4357Val) c.13054T>G (p.Phe4352Val) c.13084T>G (p.Phe4362Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38565421T= | CA2335084871 | RYR1 | c.23T= c.1497T= c.1479T= c.13087T= (p.Phe4363=) c.13072T= (p.Phe4358=) c.13069T= (p.Phe4357=) c.13054T= (p.Phe4352=) c.13084T= (p.Phe4362=) | |
19 | g.38565422T>A | CA405673407 | RYR1 | c.24T>A c.1498T>A c.1480T>A c.13088T>A (p.Phe4363Tyr) c.13073T>A (p.Phe4358Tyr) c.13070T>A (p.Phe4357Tyr) c.13055T>A (p.Phe4352Tyr) c.13085T>A (p.Phe4362Tyr) | |
19 | g.38565422T>C | CA405673408 | RYR1 | c.24T>C c.1498T>C c.1480T>C c.13088T>C (p.Phe4363Ser) c.13073T>C (p.Phe4358Ser) c.13070T>C (p.Phe4357Ser) c.13055T>C (p.Phe4352Ser) c.13085T>C (p.Phe4362Ser) | gnomAD v4 |
19 | g.38565422T>G | CA405673409 | RYR1 | c.24T>G c.1498T>G c.1480T>G c.13088T>G (p.Phe4363Cys) c.13073T>G (p.Phe4358Cys) c.13070T>G (p.Phe4357Cys) c.13055T>G (p.Phe4352Cys) c.13085T>G (p.Phe4362Cys) | |
19 | g.38565423C>A | CA059563 | RYR1 | c.25C>A c.1499C>A c.1481C>A c.13089C>A (p.Phe4363Leu) c.13074C>A (p.Phe4358Leu) c.13071C>A (p.Phe4357Leu) c.13056C>A (p.Phe4352Leu) c.13086C>A (p.Phe4362Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38565423C= | CA2335084872 | RYR1 | c.25C= c.1499C= c.1481C= c.13089C= (p.Phe4363=) c.13074C= (p.Phe4358=) c.13071C= (p.Phe4357=) c.13056C= (p.Phe4352=) c.13086C= (p.Phe4362=) | |
19 | g.38565423C>G | CA405673413 | RYR1 | c.25C>G c.1499C>G c.1481C>G c.13089C>G (p.Phe4363Leu) c.13074C>G (p.Phe4358Leu) c.13071C>G (p.Phe4357Leu) c.13056C>G (p.Phe4352Leu) c.13086C>G (p.Phe4362Leu) | gnomAD v4 |
19 | g.38565423C>T | CA507355899 | RYR1 | c.25C>T c.1499C>T c.1481C>T c.13089C>T (p.Phe4363=) c.13074C>T (p.Phe4358=) c.13071C>T (p.Phe4357=) c.13056C>T (p.Phe4352=) c.13086C>T (p.Phe4362=) | gnomAD v4 |
19 | g.38565424G>A | CA405673415 | RYR1 | c.26G>A c.1500G>A c.1482G>A c.13090G>A (p.Gly4364Ser) c.13075G>A (p.Gly4359Ser) c.13072G>A (p.Gly4358Ser) c.13057G>A (p.Gly4353Ser) c.13087G>A (p.Gly4363Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38565424G>C | CA405673417 | RYR1 | c.26G>C c.1500G>C c.1482G>C c.13090G>C (p.Gly4364Arg) c.13075G>C (p.Gly4359Arg) c.13072G>C (p.Gly4358Arg) c.13057G>C (p.Gly4353Arg) c.13087G>C (p.Gly4363Arg) | gnomAD v4 |
19 | g.38565424G= | CA2335084873 | RYR1 | c.26G= c.1500G= c.1482G= c.13090G= (p.Gly4364=) c.13075G= (p.Gly4359=) c.13072G= (p.Gly4358=) c.13057G= (p.Gly4353=) c.13087G= (p.Gly4363=) | |
19 | g.38565424G>T | CA405673418 | RYR1 | c.26G>T c.1500G>T c.1482G>T c.13090G>T (p.Gly4364Cys) c.13075G>T (p.Gly4359Cys) c.13072G>T (p.Gly4358Cys) c.13057G>T (p.Gly4353Cys) c.13087G>T (p.Gly4363Cys) | gnomAD v4 |
19 | g.38565425G>A | CA405673419 | RYR1 | c.27G>A c.1501G>A c.1483G>A c.13091G>A (p.Gly4364Asp) c.13076G>A (p.Gly4359Asp) c.13073G>A (p.Gly4358Asp) c.13058G>A (p.Gly4353Asp) c.13088G>A (p.Gly4363Asp) | gnomAD v4 |
19 | g.38565425G>C | CA405673420 | RYR1 | c.27G>C c.1501G>C c.1483G>C c.13091G>C (p.Gly4364Ala) c.13076G>C (p.Gly4359Ala) c.13073G>C (p.Gly4358Ala) c.13058G>C (p.Gly4353Ala) c.13088G>C (p.Gly4363Ala) | ClinVar dbSNP |
19 | g.38565425G= | CA2335084874 | RYR1 | c.27G= c.1501G= c.1483G= c.13091G= (p.Gly4364=) c.13076G= (p.Gly4359=) c.13073G= (p.Gly4358=) c.13058G= (p.Gly4353=) c.13088G= (p.Gly4363=) | |
19 | g.38565425G>T | CA405673421 | RYR1 | c.27G>T c.1501G>T c.1483G>T c.13091G>T (p.Gly4364Val) c.13076G>T (p.Gly4359Val) c.13073G>T (p.Gly4358Val) c.13058G>T (p.Gly4353Val) c.13088G>T (p.Gly4363Val) | gnomAD v4 |