Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38505302T>CCA2335056098RYR1c.8311-7T>C (n.8311-7T>C)
c.8308-7T>C (n.8308-7T>C)
c.1763-7T>C
n.8394-7T>C
 dbSNP
19g.38505302T=CA2335056097RYR1c.8311-7T= (n.8311-7T=)
c.8308-7T= (n.8308-7T=)
c.1763-7T=
n.8394-7T=
19g.38505305C=CA2335056099RYR1c.8311-4C= (n.8311-4C=)
c.8308-4C= (n.8308-4C=)
c.1763-4C=
n.8394-4C=
19g.38505305C>TCA071820RYR1c.8311-4C>T (n.8311-4C>T)
c.8308-4C>T (n.8308-4C>T)
c.1763-4C>T
n.8394-4C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505307A>CCA405677335RYR1c.8311-2A>C (n.8311-2A>C)
c.8308-2A>C (n.8308-2A>C)
c.1763-2A>C
n.8394-2A>C
19g.38505307A>GCA405677339RYR1c.8311-2A>G (n.8311-2A>G)
c.8308-2A>G (n.8308-2A>G)
c.1763-2A>G
n.8394-2A>G
19g.38505307A>TCA405677337RYR1c.8311-2A>T (n.8311-2A>T)
c.8308-2A>T (n.8308-2A>T)
c.1763-2A>T
n.8394-2A>T
19g.38505308G>ACA405677340RYR1c.8311-1G>A (n.8311-1G>A)
c.8308-1G>A (n.8308-1G>A)
c.1763-1G>A
n.8394-1G>A
19g.38505308G>CCA405677342RYR1c.8311-1G>C (n.8311-1G>C)
c.8308-1G>C (n.8308-1G>C)
c.1763-1G>C
n.8394-1G>C
 ClinVar dbSNP
19g.38505308G=CA2335056100RYR1c.8311-1G= (n.8311-1G=)
c.8308-1G= (n.8308-1G=)
c.1763-1G=
n.8394-1G=
19g.38505308G>TCA405677344RYR1c.8311-1G>T (n.8311-1G>T)
c.8308-1G>T (n.8308-1G>T)
c.1763-1G>T
n.8394-1G>T
 COSMIC
19g.38505309A>CCA405677346RYR1c.8311A>C (p.Ile2771Leu)
c.8308A>C (p.Ile2770Leu)
c.1763A>C
n.8394A>C
19g.38505309A>GCA405677347RYR1c.8311A>G (p.Ile2771Val)
c.8308A>G (p.Ile2770Val)
c.1763A>G
n.8394A>G
19g.38505309A>TCA405677350RYR1c.8311A>T (p.Ile2771Phe)
c.8308A>T (p.Ile2770Phe)
c.1763A>T
n.8394A>T
19g.38505310T>ACA405677352RYR1c.8312T>A (p.Ile2771Asn)
c.8309T>A (p.Ile2770Asn)
c.1764T>A
n.8395T>A
19g.38505310T>CCA405677353RYR1c.8312T>C (p.Ile2771Thr)
c.8309T>C (p.Ile2770Thr)
c.1764T>C
n.8395T>C
19g.38505310T>GCA405677355RYR1c.8312T>G (p.Ile2771Ser)
c.8309T>G (p.Ile2770Ser)
c.1764T>G
n.8395T>G
19g.38505311C>ACA10587322RYR1c.8313C>A (p.Ile2771=)
c.8310C>A (p.Ile2770=)
c.1765C>A
n.8396C>A
 ClinVar dbSNP gnomAD v4
19g.38505311C=CA2335056101RYR1c.8313C= (p.Ile2771=)
c.8310C= (p.Ile2770=)
c.1765C=
n.8396C=
19g.38505311C>GCA405677357RYR1c.8313C>G (p.Ile2771Met)
c.8310C>G (p.Ile2770Met)
c.1765C>G
n.8396C>G
19g.38505311C>TCA507244396RYR1c.8313C>T (p.Ile2771=)
c.8310C>T (p.Ile2770=)
c.1765C>T
n.8396C>T
 gnomAD v4
19g.38505312C>ACA405677359RYR1c.8314C>A (p.Gln2772Lys)
c.8311C>A (p.Gln2771Lys)
c.1766C>A
n.8397C>A
 gnomAD v4
19g.38505312C>GCA405677361RYR1c.8314C>G (p.Gln2772Glu)
c.8311C>G (p.Gln2771Glu)
c.1766C>G
n.8397C>G
19g.38505312C>TCA405677360RYR1c.8314C>T (p.Gln2772Ter)
c.8311C>T (p.Gln2771Ter)
c.1766C>T
n.8397C>T
19g.38505313A=CA2335056102RYR1c.8315A= (p.Gln2772=)
c.8312A= (p.Gln2771=)
c.1767A=
n.8398A=
19g.38505313A>CCA405677363RYR1c.8315A>C (p.Gln2772Pro)
c.8312A>C (p.Gln2771Pro)
c.1767A>C
n.8398A>C
19g.38505313A>GCA071828RYR1c.8315A>G (p.Gln2772Arg)
c.8312A>G (p.Gln2771Arg)
c.1767A>G
n.8398A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505313A>TCA405677364RYR1c.8315A>T (p.Gln2772Leu)
c.8312A>T (p.Gln2771Leu)
c.1767A>T
n.8398A>T
19g.38505314G>ACA507244400RYR1c.8316G>A (p.Gln2772=)
c.8313G>A (p.Gln2771=)
c.1768G>A
n.8399G>A
19g.38505314G>CCA405677366RYR1c.8316G>C (p.Gln2772His)
c.8313G>C (p.Gln2771His)
c.1768G>C
n.8399G>C
19g.38505314G>TCA405677368RYR1c.8316G>T (p.Gln2772His)
c.8313G>T (p.Gln2771His)
c.1768G>T
n.8399G>T
19g.38505315A>CCA405677370RYR1c.8317A>C (p.Asn2773His)
c.8314A>C (p.Asn2772His)
c.1769A>C
n.8400A>C
19g.38505315A>GCA405677371RYR1c.8317A>G (p.Asn2773Asp)
c.8314A>G (p.Asn2772Asp)
c.1769A>G
n.8400A>G
19g.38505315A>TCA405677373RYR1c.8317A>T (p.Asn2773Tyr)
c.8314A>T (p.Asn2772Tyr)
c.1769A>T
n.8400A>T
19g.38505316A>CCA405677375RYR1c.8318A>C (p.Asn2773Thr)
c.8315A>C (p.Asn2772Thr)
c.1770A>C
n.8401A>C
19g.38505316A>GCA083241RYR1c.8318A>G (p.Asn2773Ser)
c.8315A>G (p.Asn2772Ser)
c.1770A>G
n.8401A>G
19g.38505316A>TCA405677377RYR1c.8318A>T (p.Asn2773Ile)
c.8315A>T (p.Asn2772Ile)
c.1770A>T
n.8401A>T
19g.38505316_38505317insGCCA083221RYR1c.8318_8319insGC (p.Asn2773LysfsTer10)
c.8315_8316insGC (p.Asn2772LysfsTer10)
c.1770_1771insGC
n.8401_8402insGC
19g.38505317C>ACA405677379RYR1c.8319C>A (p.Asn2773Lys)
c.8316C>A (p.Asn2772Lys)
c.1771C>A
n.8402C>A
 gnomAD v4
19g.38505317C=CA2335056103RYR1c.8319C= (p.Asn2773=)
c.8316C= (p.Asn2772=)
c.1771C=
n.8402C=
19g.38505317C>GCA405677381RYR1c.8319C>G (p.Asn2773Lys)
c.8316C>G (p.Asn2772Lys)
c.1771C>G
n.8402C>G
 dbSNP gnomAD v4
19g.38505317C>TCA507244403RYR1c.8319C>T (p.Asn2773=)
c.8316C>T (p.Asn2772=)
c.1771C>T
n.8402C>T
19g.38505318A>CCA405677385RYR1c.8320A>C (p.Asn2774His)
c.8317A>C (p.Asn2773His)
c.1772A>C
n.8403A>C
19g.38505318A>GCA405677384RYR1c.8320A>G (p.Asn2774Asp)
c.8317A>G (p.Asn2773Asp)
c.1772A>G
n.8403A>G
19g.38505318A>TCA405677382RYR1c.8320A>T (p.Asn2774Tyr)
c.8317A>T (p.Asn2773Tyr)
c.1772A>T
n.8403A>T
19g.38505319A=CA2335056104RYR1c.8321A= (p.Asn2774=)
c.8318A= (p.Asn2773=)
c.1773A=
n.8404A=
19g.38505319A>CCA405677387RYR1c.8321A>C (p.Asn2774Thr)
c.8318A>C (p.Asn2773Thr)
c.1773A>C
n.8404A>C
19g.38505319A>GCA308117041RYR1c.8321A>G (p.Asn2774Ser)
c.8318A>G (p.Asn2773Ser)
c.1773A>G
n.8404A>G
 dbSNP gnomAD v4
19g.38505319A>TCA405677389RYR1c.8321A>T (p.Asn2774Ile)
c.8318A>T (p.Asn2773Ile)
c.1773A>T
n.8404A>T
19g.38505320C>ACA405677391RYR1c.8322C>A (p.Asn2774Lys)
c.8319C>A (p.Asn2773Lys)
c.1774C>A
n.8405C>A
19g.38505320C=CA2335056105RYR1c.8322C= (p.Asn2774=)
c.8319C= (p.Asn2773=)
c.1774C=
n.8405C=
19g.38505320C>GCA405677392RYR1c.8322C>G (p.Asn2774Lys)
c.8319C>G (p.Asn2773Lys)
c.1774C>G
n.8405C>G
19g.38505320C>TCA507244407RYR1c.8322C>T (p.Asn2774=)
c.8319C>T (p.Asn2773=)
c.1774C>T
n.8405C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38505321T>ACA405677394RYR1c.8323T>A (p.Trp2775Arg)
c.8320T>A (p.Trp2774Arg)
c.1775T>A
n.8406T>A
19g.38505321T>CCA405677396RYR1c.8323T>C (p.Trp2775Arg)
c.8320T>C (p.Trp2774Arg)
c.1775T>C
n.8406T>C
19g.38505321T>GCA405677397RYR1c.8323T>G (p.Trp2775Gly)
c.8320T>G (p.Trp2774Gly)
c.1775T>G
n.8406T>G
19g.38505322G>ACA405677399RYR1c.8324G>A (p.Trp2775Ter)
c.8321G>A (p.Trp2774Ter)
c.1776G>A
n.8407G>A
19g.38505322G>CCA405677400RYR1c.8324G>C (p.Trp2775Ser)
c.8321G>C (p.Trp2774Ser)
c.1776G>C
n.8407G>C
19g.38505322G>TCA083208RYR1c.8324G>T (p.Trp2775Leu)
c.8321G>T (p.Trp2774Leu)
c.1776G>T
n.8407G>T
19g.38505323G>ACA405677405RYR1c.8325G>A (p.Trp2775Ter)
c.8322G>A (p.Trp2774Ter)
c.1777G>A
n.8408G>A
 dbSNP
19g.38505323G>CCA405677406RYR1c.8325G>C (p.Trp2775Cys)
c.8322G>C (p.Trp2774Cys)
c.1777G>C
n.8408G>C
19g.38505323G=CA2335056106RYR1c.8325G= (p.Trp2775=)
c.8322G= (p.Trp2774=)
c.1777G=
n.8408G=
19g.38505323G>TCA405677403RYR1c.8325G>T (p.Trp2775Cys)
c.8322G>T (p.Trp2774Cys)
c.1777G>T
n.8408G>T
19g.38505324T>ACA405677408RYR1c.8326T>A (p.Ser2776Thr)
c.8323T>A (p.Ser2775Thr)
c.1778T>A
n.8409T>A
19g.38505324T>CCA405677410RYR1c.8326T>C (p.Ser2776Pro)
c.8323T>C (p.Ser2775Pro)
c.1778T>C
n.8409T>C
19g.38505324T>GCA405677412RYR1c.8326T>G (p.Ser2776Ala)
c.8323T>G (p.Ser2775Ala)
c.1778T>G
n.8409T>G
 dbSNP gnomAD v2 gnomAD v4
19g.38505324T=CA2335056107RYR1c.8326T= (p.Ser2776=)
c.8323T= (p.Ser2775=)
c.1778T=
n.8409T=
19g.38505325C>ACA405677415RYR1c.8327C>A (p.Ser2776Tyr)
c.8324C>A (p.Ser2775Tyr)
c.1779C>A
n.8410C>A
 dbSNP
19g.38505325C=CA2335056108RYR1c.8327C= (p.Ser2776=)
c.8324C= (p.Ser2775=)
c.1779C=
n.8410C=
19g.38505325C>GCA405677417RYR1c.8327C>G (p.Ser2776Cys)
c.8324C>G (p.Ser2775Cys)
c.1779C>G
n.8410C>G
19g.38505325C>TCA024910RYR1c.8327C>T (p.Ser2776Phe)
c.8324C>T (p.Ser2775Phe)
c.1779C>T
n.8410C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505326C>ACA071833RYR1c.8328C>A (p.Ser2776=)
c.8325C>A (p.Ser2775=)
c.1780C>A
n.8411C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505326C=CA2335056109RYR1c.8328C= (p.Ser2776=)
c.8325C= (p.Ser2775=)
c.1780C=
n.8411C=
19g.38505326C>GCA507244409RYR1c.8328C>G (p.Ser2776=)
c.8325C>G (p.Ser2775=)
c.1780C>G
n.8411C>G
19g.38505326C>TCA071838RYR1c.8328C>T (p.Ser2776=)
c.8325C>T (p.Ser2775=)
c.1780C>T
n.8411C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505327T>ACA405677424RYR1c.8329T>A (p.Tyr2777Asn)
c.8326T>A (p.Tyr2776Asn)
c.1781T>A
n.8412T>A
19g.38505327T>CCA405677425RYR1c.8329T>C (p.Tyr2777His)
c.8326T>C (p.Tyr2776His)
c.1781T>C
n.8412T>C
19g.38505327T>GCA405677427RYR1c.8329T>G (p.Tyr2777Asp)
c.8326T>G (p.Tyr2776Asp)
c.1781T>G
n.8412T>G
19g.38505328A=CA2335056110RYR1c.8330A= (p.Tyr2777=)
c.8327A= (p.Tyr2776=)
c.1782A=
n.8413A=
19g.38505328A>CCA405677433RYR1c.8330A>C (p.Tyr2777Ser)
c.8327A>C (p.Tyr2776Ser)
c.1782A>C
n.8413A>C
19g.38505328A>GCA071847RYR1c.8330A>G (p.Tyr2777Cys)
c.8327A>G (p.Tyr2776Cys)
c.1782A>G
n.8413A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505328A>TCA083243RYR1c.8330A>T (p.Tyr2777Phe)
c.8327A>T (p.Tyr2776Phe)
c.1782A>T
n.8413A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505329T>ACA405677434RYR1c.8331T>A (p.Tyr2777Ter)
c.8328T>A (p.Tyr2776Ter)
c.1783T>A
n.8414T>A
19g.38505329T>CCA507244410RYR1c.8331T>C (p.Tyr2777=)
c.8328T>C (p.Tyr2776=)
c.1783T>C
n.8414T>C
19g.38505329T>GCA405677435RYR1c.8331T>G (p.Tyr2777Ter)
c.8328T>G (p.Tyr2776Ter)
c.1783T>G
n.8414T>G
 gnomAD v4
19g.38505330G>ACA405677437RYR1c.8332G>A (p.Gly2778Arg)
c.8329G>A (p.Gly2777Arg)
c.1784G>A
n.8415G>A
 COSMIC
19g.38505330G>CCA405677439RYR1c.8332G>C (p.Gly2778Arg)
c.8329G>C (p.Gly2777Arg)
c.1784G>C
n.8415G>C
19g.38505330G>TCA405677441RYR1c.8332G>T (p.Gly2778Ter)
c.8329G>T (p.Gly2777Ter)
c.1784G>T
n.8415G>T
19g.38505331delCA2584901698RYR1c.8333del (p.Gly2778GlufsTer4)
c.8330del (p.Gly2777GlufsTer4)
c.1785del
n.8416del
 gnomAD v4
19g.38505331G>ACA405677449RYR1c.8333G>A (p.Gly2778Glu)
c.8330G>A (p.Gly2777Glu)
c.1785G>A
n.8416G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38505331G>CCA405677444RYR1c.8333G>C (p.Gly2778Ala)
c.8330G>C (p.Gly2777Ala)
c.1785G>C
n.8416G>C
19g.38505331G=CA2335056111RYR1c.8333G= (p.Gly2778=)
c.8330G= (p.Gly2777=)
c.1785G=
n.8416G=
19g.38505331G>TCA405677447RYR1c.8333G>T (p.Gly2778Val)
c.8330G>T (p.Gly2777Val)
c.1785G>T
n.8416G>T
19g.38505332A>CCA507244412RYR1c.8334A>C (p.Gly2778=)
c.8331A>C (p.Gly2777=)
c.1786A>C
n.8417A>C
19g.38505332A>GCA507244413RYR1c.8334A>G (p.Gly2778=)
c.8331A>G (p.Gly2777=)
c.1786A>G
n.8417A>G
19g.38505332A>TCA507244411RYR1c.8334A>T (p.Gly2778=)
c.8331A>T (p.Gly2777=)
c.1786A>T
n.8417A>T
19g.38505333G>ACA405677452RYR1c.8335G>A (p.Glu2779Lys)
c.8332G>A (p.Glu2778Lys)
c.1787G>A
n.8418G>A
19g.38505333G>CCA405677453RYR1c.8335G>C (p.Glu2779Gln)
c.8332G>C (p.Glu2778Gln)
c.1787G>C
n.8418G>C
 dbSNP gnomAD v3 gnomAD v4
19g.38505333G=CA2335056112RYR1c.8335G= (p.Glu2779=)
c.8332G= (p.Glu2778=)
c.1787G=
n.8418G=
19g.38505333G>TCA405677455RYR1c.8335G>T (p.Glu2779Ter)
c.8332G>T (p.Glu2778Ter)
c.1787G>T
n.8418G>T
19g.38505334A>CCA405677458RYR1c.8336A>C (p.Glu2779Ala)
c.8333A>C (p.Glu2778Ala)
c.1788A>C
n.8419A>C
19g.38505334A>GCA405677460RYR1c.8336A>G (p.Glu2779Gly)
c.8333A>G (p.Glu2778Gly)
c.1788A>G
n.8419A>G
19g.38505334A>TCA405677463RYR1c.8336A>T (p.Glu2779Val)
c.8333A>T (p.Glu2778Val)
c.1788A>T
n.8419A>T
19g.38505335G>ACA024912RYR1c.8337G>A (p.Glu2779=)
c.8334G>A (p.Glu2778=)
c.1789G>A
n.8420G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505335G>CCA405677471RYR1c.8337G>C (p.Glu2779Asp)
c.8334G>C (p.Glu2778Asp)
c.1789G>C
n.8420G>C
19g.38505335G=CA2335056113RYR1c.8337G= (p.Glu2779=)
c.8334G= (p.Glu2778=)
c.1789G=
n.8420G=
19g.38505335G>TCA405677470RYR1c.8337G>T (p.Glu2779Asp)
c.8334G>T (p.Glu2778Asp)
c.1789G>T
n.8420G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38505336A=CA2335056114RYR1c.8338A= (p.Asn2780=)
c.8335A= (p.Asn2779=)
c.1790A=
n.8421A=
19g.38505336A>CCA405677477RYR1c.8338A>C (p.Asn2780His)
c.8335A>C (p.Asn2779His)
c.1790A>C
n.8421A>C
 dbSNP gnomAD v2 gnomAD v4
19g.38505336A>GCA405677474RYR1c.8338A>G (p.Asn2780Asp)
c.8335A>G (p.Asn2779Asp)
c.1790A>G
n.8421A>G
19g.38505336A>TCA405677475RYR1c.8338A>T (p.Asn2780Tyr)
c.8335A>T (p.Asn2779Tyr)
c.1790A>T
n.8421A>T
19g.38505337A>CCA405677481RYR1c.8339A>C (p.Asn2780Thr)
c.8336A>C (p.Asn2779Thr)
c.1791A>C
n.8422A>C
19g.38505337A>GCA405677484RYR1c.8339A>G (p.Asn2780Ser)
c.8336A>G (p.Asn2779Ser)
c.1791A>G
n.8422A>G
 gnomAD v4
19g.38505337A>TCA405677486RYR1c.8339A>T (p.Asn2780Ile)
c.8336A>T (p.Asn2779Ile)
c.1791A>T
n.8422A>T
19g.38505338C>ACA405677489RYR1c.8340C>A (p.Asn2780Lys)
c.8337C>A (p.Asn2779Lys)
c.1792C>A
n.8423C>A
 COSMIC
19g.38505338C=CA2335056116RYR1c.8340C= (p.Asn2780=)
c.8337C= (p.Asn2779=)
c.1792C=
n.8423C=
19g.38505338C>GCA405677491RYR1c.8340C>G (p.Asn2780Lys)
c.8337C>G (p.Asn2779Lys)
c.1792C>G
n.8423C>G
 gnomAD v4
19g.38505338C>TCA308117067RYR1c.8340C>T (p.Asn2780=)
c.8337C>T (p.Asn2779=)
c.1792C>T
n.8423C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505338_38505340delinsCATCA2335056115RYR1c.8340_8342delinsCAT (p.Asn2780=)
c.8337_8339delinsCAT (p.Asn2779=)
c.1792_1794delinsCAT
n.8423_8425delinsCAT
19g.38505339A>CCA405677496RYR1c.8341A>C (p.Ile2781Leu)
c.8338A>C (p.Ile2780Leu)
c.1793A>C
n.8424A>C
19g.38505339A>GCA405677497RYR1c.8341A>G (p.Ile2781Val)
c.8338A>G (p.Ile2780Val)
c.1793A>G
n.8424A>G
 gnomAD v4
19g.38505339A>TCA405677499RYR1c.8341A>T (p.Ile2781Leu)
c.8338A>T (p.Ile2780Leu)
c.1793A>T
n.8424A>T
19g.38505340_38505341delCA071855RYR1c.8342_8343del (p.Ile2781ArgfsTer?)
c.8339_8340del (p.Ile2780ArgfsTer?)
c.1794_1795del
n.8425_8426del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.[38505340_38505341del;38543804C>T]CA2742038398RYR1c.[8342_8343del;11941C>T] (p.Ile2781ArgfsTer49)
c.[8342_8343del;11926C>T] (p.Ile2781ArgfsTer49)
c.[8339_8340del;11923C>T] (p.Ile2780ArgfsTer49)
c.[1794_1795del;5310C>T]
c.[8342_8343del;11923C>T] (p.Ile2781ArgfsTer49)
c.[8342_8343del;11908C>T] (p.Ile2781ArgfsTer49)
c.[8339_8340del;11938C>T] (p.Ile2780ArgfsTer49)
19g.38505340T>ACA405677503RYR1c.8342T>A (p.Ile2781Lys)
c.8339T>A (p.Ile2780Lys)
c.1794T>A
n.8425T>A
19g.38505340T>CCA071860RYR1c.8342T>C (p.Ile2781Thr)
c.8339T>C (p.Ile2780Thr)
c.1794T>C
n.8425T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505340T>GCA405677502RYR1c.8342T>G (p.Ile2781Arg)
c.8339T>G (p.Ile2780Arg)
c.1794T>G
n.8425T>G
19g.38505340T=CA2335056117RYR1c.8342T= (p.Ile2781=)
c.8339T= (p.Ile2780=)
c.1794T=
n.8425T=
19g.38505341A=CA2335056118RYR1c.8343A= (p.Ile2781=)
c.8340A= (p.Ile2780=)
c.1795A=
n.8426A=
19g.38505341A>CCA507244414RYR1c.8343A>C (p.Ile2781=)
c.8340A>C (p.Ile2780=)
c.1795A>C
n.8426A>C
19g.38505341A>GCA308117085RYR1c.8343A>G (p.Ile2781Met)
c.8340A>G (p.Ile2780Met)
c.1795A>G
n.8426A>G
 dbSNP
19g.38505341A>TCA507244415RYR1c.8343A>T (p.Ile2781=)
c.8340A>T (p.Ile2780=)
c.1795A>T
n.8426A>T
19g.38505342_38505343delCA083256RYR1c.8344_8345del (p.Asp2782ArgfsTer?)
c.8341_8342del (p.Asp2781ArgfsTer?)
c.1796_1797del
n.8427_8428del
19g.38505342G>ACA405677504RYR1c.8344G>A (p.Asp2782Asn)
c.8341G>A (p.Asp2781Asn)
c.1796G>A
n.8427G>A
 dbSNP gnomAD v4
19g.38505342G>CCA405677506RYR1c.8344G>C (p.Asp2782His)
c.8341G>C (p.Asp2781His)
c.1796G>C
n.8427G>C
19g.38505342G>TCA405677507RYR1c.8344G>T (p.Asp2782Tyr)
c.8341G>T (p.Asp2781Tyr)
c.1796G>T
n.8427G>T
19g.38505343A=CA2335056119RYR1c.8345A= (p.Asp2782=)
c.8342A= (p.Asp2781=)
c.1797A=
n.8428A=
19g.38505343A>CCA405677509RYR1c.8345A>C (p.Asp2782Ala)
c.8342A>C (p.Asp2781Ala)
c.1797A>C
n.8428A>C
19g.38505343A>GCA405677512RYR1c.8345A>G (p.Asp2782Gly)
c.8342A>G (p.Asp2781Gly)
c.1797A>G
n.8428A>G
 ClinVar dbSNP gnomAD v4
19g.38505343A>TCA405677515RYR1c.8345A>T (p.Asp2782Val)
c.8342A>T (p.Asp2781Val)
c.1797A>T
n.8428A>T
 gnomAD v4
19g.38505344C>ACA405677517RYR1c.8346C>A (p.Asp2782Glu)
c.8343C>A (p.Asp2781Glu)
c.1798C>A
n.8429C>A
 gnomAD v4
19g.38505344C=CA2335056120RYR1c.8346C= (p.Asp2782=)
c.8343C= (p.Asp2781=)
c.1798C=
n.8429C=
19g.38505344C>GCA405677518RYR1c.8346C>G (p.Asp2782Glu)
c.8343C>G (p.Asp2781Glu)
c.1798C>G
n.8429C>G
 gnomAD v4
19g.38505344C>TCA071866RYR1c.8346C>T (p.Asp2782=)
c.8343C>T (p.Asp2781=)
c.1798C>T
n.8429C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505345G>ACA308117092RYR1c.8347G>A (p.Glu2783Lys)
c.8344G>A (p.Glu2782Lys)
c.1799G>A
n.8430G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38505345G>CCA071872RYR1c.8347G>C (p.Glu2783Gln)
c.8344G>C (p.Glu2782Gln)
c.1799G>C
n.8430G>C
 ClinVar dbSNP ExAC gnomAD v2
19g.38505345G=CA2335056121RYR1c.8347G= (p.Glu2783=)
c.8344G= (p.Glu2782=)
c.1799G=
n.8430G=
19g.38505345G>TCA405677529RYR1c.8347G>T (p.Glu2783Ter)
c.8344G>T (p.Glu2782Ter)
c.1799G>T
n.8430G>T
19g.38505345_38505346delinsCTCA915953001RYR1c.8347_8348delinsCT (p.Glu2783Leu)
c.8344_8345delinsCT (p.Glu2782Leu)
c.1799_1800delinsCT
n.8430_8431delinsCT
 ClinVar dbSNP
19g.38505345_38505346delinsGACA2335056122RYR1c.8347_8348delinsGA (p.Glu2783=)
c.8344_8345delinsGA (p.Glu2782=)
c.1799_1800delinsGA
n.8430_8431delinsGA
19g.38505346A=CA2335056123RYR1c.8348A= (p.Glu2783=)
c.8345A= (p.Glu2782=)
c.1800A=
n.8431A=
19g.38505346A>CCA405677535RYR1c.8348A>C (p.Glu2783Ala)
c.8345A>C (p.Glu2782Ala)
c.1800A>C
n.8431A>C
19g.38505346A>GCA405677532RYR1c.8348A>G (p.Glu2783Gly)
c.8345A>G (p.Glu2782Gly)
c.1800A>G
n.8431A>G
19g.38505346A>TCA071878RYR1c.8348A>T (p.Glu2783Val)
c.8345A>T (p.Glu2782Val)
c.1800A>T
n.8431A>T
 ClinVar dbSNP ExAC gnomAD v2
19g.38505347G>ACA507244416RYR1c.8349G>A (p.Glu2783=)
c.8346G>A (p.Glu2782=)
c.1801G>A
n.8432G>A
19g.38505347G>CCA405677538RYR1c.8349G>C (p.Glu2783Asp)
c.8346G>C (p.Glu2782Asp)
c.1801G>C
n.8432G>C
19g.38505347G>TCA405677537RYR1c.8349G>T (p.Glu2783Asp)
c.8346G>T (p.Glu2782Asp)
c.1801G>T
n.8432G>T
19g.38505348G>ACA405677540RYR1c.8350G>A (p.Glu2784Lys)
c.8347G>A (p.Glu2783Lys)
c.1802G>A
n.8433G>A
 dbSNP
19g.38505348G>CCA083262RYR1c.8350G>C (p.Glu2784Gln)
c.8347G>C (p.Glu2783Gln)
c.1802G>C
n.8433G>C
19g.38505348G=CA2335056124RYR1c.8350G= (p.Glu2784=)
c.8347G= (p.Glu2783=)
c.1802G=
n.8433G=
19g.38505348G>TCA405677542RYR1c.8350G>T (p.Glu2784Ter)
c.8347G>T (p.Glu2783Ter)
c.1802G>T
n.8433G>T
19g.38505349A>CCA405677544RYR1c.8351A>C (p.Glu2784Ala)
c.8348A>C (p.Glu2783Ala)
c.1803A>C
n.8434A>C
19g.38505349A>GCA405677547RYR1c.8351A>G (p.Glu2784Gly)
c.8348A>G (p.Glu2783Gly)
c.1803A>G
n.8434A>G
19g.38505349A>TCA083265RYR1c.8351A>T (p.Glu2784Val)
c.8348A>T (p.Glu2783Val)
c.1803A>T
n.8434A>T
19g.38505350G>ACA507244417RYR1c.8352G>A (p.Glu2784=)
c.8349G>A (p.Glu2783=)
c.1804G>A
n.8435G>A
19g.38505350G>CCA405677555RYR1c.8352G>C (p.Glu2784Asp)
c.8349G>C (p.Glu2783Asp)
c.1804G>C
n.8435G>C
19g.38505350G>TCA405677558RYR1c.8352G>T (p.Glu2784Asp)
c.8349G>T (p.Glu2783Asp)
c.1804G>T
n.8435G>T
19g.38505351C>ACA405677559RYR1c.8353C>A (p.Leu2785Met)
c.8350C>A (p.Leu2784Met)
c.1805C>A
n.8436C>A
 gnomAD v4
19g.38505351C=CA2335056125RYR1c.8353C= (p.Leu2785=)
c.8350C= (p.Leu2784=)
c.1805C=
n.8436C=
19g.38505351C>GCA405677561RYR1c.8353C>G (p.Leu2785Val)
c.8350C>G (p.Leu2784Val)
c.1805C>G
n.8436C>G
19g.38505351C>TCA308117094RYR1c.8353C>T (p.Leu2785=)
c.8350C>T (p.Leu2784=)
c.1805C>T
n.8436C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38505352T>ACA405677563RYR1c.8354T>A (p.Leu2785Gln)
c.8351T>A (p.Leu2784Gln)
c.1806T>A
n.8437T>A
19g.38505352T>CCA405677565RYR1c.8354T>C (p.Leu2785Pro)
c.8351T>C (p.Leu2784Pro)
c.1806T>C
n.8437T>C
 gnomAD v4
19g.38505352T>GCA405677567RYR1c.8354T>G (p.Leu2785Arg)
c.8351T>G (p.Leu2784Arg)
c.1806T>G
n.8437T>G
19g.38505353G>ACA507244419RYR1c.8355G>A (p.Leu2785=)
c.8352G>A (p.Leu2784=)
c.1807G>A
n.8438G>A
19g.38505353G>CCA507244420RYR1c.8355G>C (p.Leu2785=)
c.8352G>C (p.Leu2784=)
c.1807G>C
n.8438G>C
19g.38505353G>TCA507244421RYR1c.8355G>T (p.Leu2785=)
c.8352G>T (p.Leu2784=)
c.1807G>T
n.8438G>T
19g.38505354A>CCA405677569RYR1c.8356A>C (p.Lys2786Gln)
c.8353A>C (p.Lys2785Gln)
c.1808A>C
n.8439A>C
19g.38505354A>GCA405677574RYR1c.8356A>G (p.Lys2786Glu)
c.8353A>G (p.Lys2785Glu)
c.1808A>G
n.8439A>G
19g.38505354A>TCA405677572RYR1c.8356A>T (p.Lys2786Ter)
c.8353A>T (p.Lys2785Ter)
c.1808A>T
n.8439A>T
19g.38505355A>CCA405677577RYR1c.8357A>C (p.Lys2786Thr)
c.8354A>C (p.Lys2785Thr)
c.1809A>C
n.8440A>C
19g.38505355A>GCA405677579RYR1c.8357A>G (p.Lys2786Arg)
c.8354A>G (p.Lys2785Arg)
c.1809A>G
n.8440A>G
19g.38505355A>TCA405677580RYR1c.8357A>T (p.Lys2786Met)
c.8354A>T (p.Lys2785Met)
c.1809A>T
n.8440A>T
19g.38505356G>ACA507244425RYR1c.8358G>A (p.Lys2786=)
c.8355G>A (p.Lys2785=)
c.1810G>A
n.8441G>A
19g.38505356G>CCA405677582RYR1c.8358G>C (p.Lys2786Asn)
c.8355G>C (p.Lys2785Asn)
c.1810G>C
n.8441G>C
 dbSNP
19g.38505356G=CA2335056126RYR1c.8358G= (p.Lys2786=)
c.8355G= (p.Lys2785=)
c.1810G=
n.8441G=
19g.38505356G>TCA405677583RYR1c.8358G>T (p.Lys2786Asn)
c.8355G>T (p.Lys2785Asn)
c.1810G>T
n.8441G>T
19g.38505357A>CCA405677587RYR1c.8359A>C (p.Thr2787Pro)
c.8356A>C (p.Thr2786Pro)
c.1811A>C
n.8442A>C
 gnomAD v4
19g.38505357A>GCA405677588RYR1c.8359A>G (p.Thr2787Ala)
c.8356A>G (p.Thr2786Ala)
c.1811A>G
n.8442A>G
19g.38505357A>TCA405677589RYR1c.8359A>T (p.Thr2787Ser)
c.8356A>T (p.Thr2786Ser)
c.1811A>T
n.8442A>T
19g.38505358C>ACA405677593RYR1c.8360C>A (p.Thr2787Asn)
c.8357C>A (p.Thr2786Asn)
c.1812C>A
n.8443C>A
19g.38505358C=CA2335056127RYR1c.8360C= (p.Thr2787=)
c.8357C= (p.Thr2786=)
c.1812C=
n.8443C=
19g.38505358C>GCA024914RYR1c.8360C>G (p.Thr2787Ser)
c.8357C>G (p.Thr2786Ser)
c.1812C>G
n.8443C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505358C>TCA405677595RYR1c.8360C>T (p.Thr2787Ile)
c.8357C>T (p.Thr2786Ile)
c.1812C>T
n.8443C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505360dupCA083215RYR1c.8362dup (p.His2788ProfsTer?)
c.8359dup (p.His2787ProfsTer?)
c.1814dup
n.8445dup
 gnomAD v4
19g.38505359C>ACA507244436RYR1c.8361C>A (p.Thr2787=)
c.8358C>A (p.Thr2786=)
c.1813C>A
n.8444C>A
19g.38505359C=CA2335056128RYR1c.8361C= (p.Thr2787=)
c.8358C= (p.Thr2786=)
c.1813C=
n.8444C=
19g.38505359C>GCA507244438RYR1c.8361C>G (p.Thr2787=)
c.8358C>G (p.Thr2786=)
c.1813C>G
n.8444C>G
19g.38505359C>TCA071889RYR1c.8361C>T (p.Thr2787=)
c.8358C>T (p.Thr2786=)
c.1813C>T
n.8444C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505360C>ACA405677599RYR1c.8362C>A (p.His2788Asn)
c.8359C>A (p.His2787Asn)
c.1814C>A
n.8445C>A
19g.38505360C>GCA405677600RYR1c.8362C>G (p.His2788Asp)
c.8359C>G (p.His2787Asp)
c.1814C>G
n.8445C>G
19g.38505360C>TCA405677597RYR1c.8362C>T (p.His2788Tyr)
c.8359C>T (p.His2787Tyr)
c.1814C>T
n.8445C>T
19g.38505361A>CCA405677602RYR1c.8363A>C (p.His2788Pro)
c.8360A>C (p.His2787Pro)
c.1815A>C
n.8446A>C
19g.38505361A>GCA405677606RYR1c.8363A>G (p.His2788Arg)
c.8360A>G (p.His2787Arg)
c.1815A>G
n.8446A>G
19g.38505361A>TCA405677604RYR1c.8363A>T (p.His2788Leu)
c.8360A>T (p.His2787Leu)
c.1815A>T
n.8446A>T
19g.38505362C>ACA083219RYR1c.8364C>A (p.His2788Gln)
c.8361C>A (p.His2787Gln)
c.1816C>A
n.8447C>A
 gnomAD v4
19g.38505362C>GCA405677609RYR1c.8364C>G (p.His2788Gln)
c.8361C>G (p.His2787Gln)
c.1816C>G
n.8447C>G
19g.38505362C>TCA083268RYR1c.8364C>T (p.His2788=)
c.8361C>T (p.His2787=)
c.1816C>T
n.8447C>T
 ClinVar
19g.38505363C>ACA405677612RYR1c.8365C>A (p.Pro2789Thr)
c.8362C>A (p.Pro2788Thr)
c.1817C>A
n.8448C>A
 gnomAD v4
19g.38505363C=CA2335056129RYR1c.8365C= (p.Pro2789=)
c.8362C= (p.Pro2788=)
c.1817C=
n.8448C=
19g.38505363C>GCA405677615RYR1c.8365C>G (p.Pro2789Ala)
c.8362C>G (p.Pro2788Ala)
c.1817C>G
n.8448C>G
 dbSNP gnomAD v4
19g.38505363C>TCA405677616RYR1c.8365C>T (p.Pro2789Ser)
c.8362C>T (p.Pro2788Ser)
c.1817C>T
n.8448C>T
19g.38505364C>ACA405677619RYR1c.8366C>A (p.Pro2789His)
c.8363C>A (p.Pro2788His)
c.1818C>A
n.8449C>A
 gnomAD v4
19g.38505364C>GCA405677622RYR1c.8366C>G (p.Pro2789Arg)
c.8363C>G (p.Pro2788Arg)
c.1818C>G
n.8449C>G
19g.38505364C>TCA405677623RYR1c.8366C>T (p.Pro2789Leu)
c.8363C>T (p.Pro2788Leu)
c.1818C>T
n.8449C>T
 ClinVar gnomAD v4
19g.38505365C>ACA507244463RYR1c.8367C>A (p.Pro2789=)
c.8364C>A (p.Pro2788=)
c.1819C>A
n.8450C>A
 gnomAD v4
19g.38505365C=CA2335056130RYR1c.8367C= (p.Pro2789=)
c.8364C= (p.Pro2788=)
c.1819C=
n.8450C=
19g.38505365C>GCA507244464RYR1c.8367C>G (p.Pro2789=)
c.8364C>G (p.Pro2788=)
c.1819C>G
n.8450C>G
19g.38505365C>TCA507244465RYR1c.8367C>T (p.Pro2789=)
c.8364C>T (p.Pro2788=)
c.1819C>T
n.8450C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
19g.38505366A>CCA405677624RYR1c.8368A>C (p.Met2790Leu)
c.8365A>C (p.Met2789Leu)
c.1820A>C
n.8451A>C
19g.38505366A>GCA405677627RYR1c.8368A>G (p.Met2790Val)
c.8365A>G (p.Met2789Val)
c.1820A>G
n.8451A>G
 gnomAD v4
19g.38505366A>TCA405677630RYR1c.8368A>T (p.Met2790Leu)
c.8365A>T (p.Met2789Leu)
c.1820A>T
n.8451A>T
19g.38505367T>ACA405677638RYR1c.8369T>A (p.Met2790Lys)
c.8366T>A (p.Met2789Lys)
c.1821T>A
n.8452T>A
 ClinVar dbSNP
19g.38505367T>CCA405677632RYR1c.8369T>C (p.Met2790Thr)
c.8366T>C (p.Met2789Thr)
c.1821T>C
n.8452T>C
 gnomAD v4
19g.38505367T>GCA405677633RYR1c.8369T>G (p.Met2790Arg)
c.8366T>G (p.Met2789Arg)
c.1821T>G
n.8452T>G
19g.38505368G>ACA405677641RYR1c.8370G>A (p.Met2790Ile)
c.8367G>A (p.Met2789Ile)
c.1822G>A
n.8453G>A
19g.38505368G>CCA405677642RYR1c.8370G>C (p.Met2790Ile)
c.8367G>C (p.Met2789Ile)
c.1822G>C
n.8453G>C
19g.38505368G>TCA405677643RYR1c.8370G>T (p.Met2790Ile)
c.8367G>T (p.Met2789Ile)
c.1822G>T
n.8453G>T
19g.38505369C>ACA405677646RYR1c.8371C>A (p.Leu2791Met)
c.8368C>A (p.Leu2790Met)
c.1823C>A
n.8454C>A
 gnomAD v4
19g.38505369C>GCA405677652RYR1c.8371C>G (p.Leu2791Val)
c.8368C>G (p.Leu2790Val)
c.1823C>G
n.8454C>G
19g.38505369C>TCA507244477RYR1c.8371C>T (p.Leu2791=)
c.8368C>T (p.Leu2790=)
c.1823C>T
n.8454C>T
19g.38505370delCA2695228669RYR1c.8372del (p.Leu2791ArgfsTer23)
c.8369del (p.Leu2790ArgfsTer23)
c.1824del
n.8455del
19g.38505370T>ACA405677657RYR1c.8372T>A (p.Leu2791Gln)
c.8369T>A (p.Leu2790Gln)
c.1824T>A
n.8455T>A
19g.38505370T>CCA405677659RYR1c.8372T>C (p.Leu2791Pro)
c.8369T>C (p.Leu2790Pro)
c.1824T>C
n.8455T>C
19g.38505370T>GCA405677665RYR1c.8372T>G (p.Leu2791Arg)
c.8369T>G (p.Leu2790Arg)
c.1824T>G
n.8455T>G
19g.38505371G>ACA507244486RYR1c.8373G>A (p.Leu2791=)
c.8370G>A (p.Leu2790=)
c.1825G>A
n.8456G>A
19g.38505371G>CCA071894RYR1c.8373G>C (p.Leu2791=)
c.8370G>C (p.Leu2790=)
c.1825G>C
n.8456G>C
 dbSNP ExAC gnomAD v2
19g.38505371G=CA2335056131RYR1c.8373G= (p.Leu2791=)
c.8370G= (p.Leu2790=)
c.1825G=
n.8456G=
19g.38505371G>TCA507244482RYR1c.8373G>T (p.Leu2791=)
c.8370G>T (p.Leu2790=)
c.1825G>T
n.8456G>T
19g.38505372A>CCA507244488RYR1c.8374A>C (p.Arg2792=)
c.8371A>C (p.Arg2791=)
c.1826A>C
n.8457A>C
19g.38505372A>GCA405677669RYR1c.8374A>G (p.Arg2792Gly)
c.8371A>G (p.Arg2791Gly)
c.1826A>G
n.8457A>G
19g.38505372A>TCA405677671RYR1c.8374A>T (p.Arg2792Trp)
c.8371A>T (p.Arg2791Trp)
c.1826A>T
n.8457A>T
19g.38505373G>ACA405677676RYR1c.8375G>A (p.Arg2792Lys)
c.8372G>A (p.Arg2791Lys)
c.1827G>A
n.8458G>A
19g.38505373G>CCA405677679RYR1c.8375G>C (p.Arg2792Thr)
c.8372G>C (p.Arg2791Thr)
c.1827G>C
n.8458G>C
 dbSNP
19g.38505373G=CA2335056132RYR1c.8375G= (p.Arg2792=)
c.8372G= (p.Arg2791=)
c.1827G=
n.8458G=
19g.38505373G>TCA405677675RYR1c.8375G>T (p.Arg2792Met)
c.8372G>T (p.Arg2791Met)
c.1827G>T
n.8458G>T
 dbSNP
19g.38505374G>ACA024916RYR1c.8376G>A (p.Arg2792=)
c.8373G>A (p.Arg2791=)
c.1828G>A
n.8459G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505374G>CCA083270RYR1c.8376G>C (p.Arg2792Ser)
c.8373G>C (p.Arg2791Ser)
c.1828G>C
n.8459G>C
19g.38505374G=CA2335056133RYR1c.8376G= (p.Arg2792=)
c.8373G= (p.Arg2791=)
c.1828G=
n.8459G=
19g.38505374G>TCA405677685RYR1c.8376G>T (p.Arg2792Ser)
c.8373G>T (p.Arg2791Ser)
c.1828G>T
n.8459G>T
19g.38505375C>ACA405677688RYR1c.8377C>A (p.Pro2793Thr)
c.8374C>A (p.Pro2792Thr)
c.1829C>A
n.8460C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38505375C=CA2335056134RYR1c.8377C= (p.Pro2793=)
c.8374C= (p.Pro2792=)
c.1829C=
n.8460C=
19g.38505375C>GCA405677689RYR1c.8377C>G (p.Pro2793Ala)
c.8374C>G (p.Pro2792Ala)
c.1829C>G
n.8460C>G
19g.38505375C>TCA071904RYR1c.8377C>T (p.Pro2793Ser)
c.8374C>T (p.Pro2792Ser)
c.1829C>T
n.8460C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505377delCA913015958RYR1c.8379del (p.Tyr2794ThrfsTer20)
c.8376del (p.Tyr2793ThrfsTer20)
c.1831del
n.8462del
19g.38505376C>ACA405677696RYR1c.8378C>A (p.Pro2793His)
c.8375C>A (p.Pro2792His)
c.1830C>A
n.8461C>A
19g.38505376C=CA2335056135RYR1c.8378C= (p.Pro2793=)
c.8375C= (p.Pro2792=)
c.1830C=
n.8461C=
19g.38505376C>GCA405677698RYR1c.8378C>G (p.Pro2793Arg)
c.8375C>G (p.Pro2792Arg)
c.1830C>G
n.8461C>G
 dbSNP gnomAD v2 gnomAD v4
19g.38505376C>TCA071909RYR1c.8378C>T (p.Pro2793Leu)
c.8375C>T (p.Pro2792Leu)
c.1830C>T
n.8461C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.38505377C>ACA507244511RYR1c.8379C>A (p.Pro2793=)
c.8376C>A (p.Pro2792=)
c.1831C>A
n.8462C>A
 gnomAD v4
19g.38505377C>GCA507244517RYR1c.8379C>G (p.Pro2793=)
c.8376C>G (p.Pro2792=)
c.1831C>G
n.8462C>G
19g.38505377C>TCA507244514RYR1c.8379C>T (p.Pro2793=)
c.8376C>T (p.Pro2792=)
c.1831C>T
n.8462C>T
 gnomAD v4
19g.38505378T>ACA405677704RYR1c.8380T>A (p.Tyr2794Asn)
c.8377T>A (p.Tyr2793Asn)
c.1832T>A
n.8463T>A
19g.38505378T>CCA405677705RYR1c.8380T>C (p.Tyr2794His)
c.8377T>C (p.Tyr2793His)
c.1832T>C
n.8463T>C
19g.38505378T>GCA405677706RYR1c.8380T>G (p.Tyr2794Asp)
c.8377T>G (p.Tyr2793Asp)
c.1832T>G
n.8463T>G
19g.38505379A>CCA405677710RYR1c.8381A>C (p.Tyr2794Ser)
c.8378A>C (p.Tyr2793Ser)
c.1833A>C
n.8464A>C
19g.38505379A>GCA405677713RYR1c.8381A>G (p.Tyr2794Cys)
c.8378A>G (p.Tyr2793Cys)
c.1833A>G
n.8464A>G
 gnomAD v4
19g.38505379A>TCA405677708RYR1c.8381A>T (p.Tyr2794Phe)
c.8378A>T (p.Tyr2793Phe)
c.1833A>T
n.8464A>T
19g.38505380C>ACA405677716RYR1c.8382C>A (p.Tyr2794Ter)
c.8379C>A (p.Tyr2793Ter)
c.1834C>A
n.8465C>A
 dbSNP gnomAD v2 gnomAD v4
19g.38505380C=CA2335056136RYR1c.8382C= (p.Tyr2794=)
c.8379C= (p.Tyr2793=)
c.1834C=
n.8465C=
19g.38505380C>GCA071914RYR1c.8382C>G (p.Tyr2794Ter)
c.8379C>G (p.Tyr2793Ter)
c.1834C>G
n.8465C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505380C>TCA071919RYR1c.8382C>T (p.Tyr2794=)
c.8379C>T (p.Tyr2793=)
c.1834C>T
n.8465C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505381A>CCA405677726RYR1c.8383A>C (p.Lys2795Gln)
c.8380A>C (p.Lys2794Gln)
c.1835A>C
n.8466A>C
19g.38505381A>GCA405677727RYR1c.8383A>G (p.Lys2795Glu)
c.8380A>G (p.Lys2794Glu)
c.1835A>G
n.8466A>G
19g.38505381A>TCA405677728RYR1c.8383A>T (p.Lys2795Ter)
c.8380A>T (p.Lys2794Ter)
c.1835A>T
n.8466A>T
19g.38505382A>CCA405677731RYR1c.8384A>C (p.Lys2795Thr)
c.8381A>C (p.Lys2794Thr)
c.1836A>C
n.8467A>C
19g.38505382A>GCA405677735RYR1c.8384A>G (p.Lys2795Arg)
c.8381A>G (p.Lys2794Arg)
c.1836A>G
n.8467A>G
19g.38505382A>TCA405677734RYR1c.8384A>T (p.Lys2795Met)
c.8381A>T (p.Lys2794Met)
c.1836A>T
n.8467A>T
19g.38505383G>ACA507244538RYR1c.8385G>A (p.Lys2795=)
c.8382G>A (p.Lys2794=)
c.1837G>A
n.8468G>A
 ClinVar dbSNP gnomAD v2 COSMIC
19g.38505383G>CCA405677736RYR1c.8385G>C (p.Lys2795Asn)
c.8382G>C (p.Lys2794Asn)
c.1837G>C
n.8468G>C
19g.38505383G=CA2335056137RYR1c.8385G= (p.Lys2795=)
c.8382G= (p.Lys2794=)
c.1837G=
n.8468G=
19g.38505383G>TCA405677739RYR1c.8385G>T (p.Lys2795Asn)
c.8382G>T (p.Lys2794Asn)
c.1837G>T
n.8468G>T
 dbSNP gnomAD v2 gnomAD v4
19g.38505384A=CA2335056138RYR1c.8386A= (p.Thr2796=)
c.8383A= (p.Thr2795=)
c.1838A=
n.8469A=
19g.38505384A>CCA405677742RYR1c.8386A>C (p.Thr2796Pro)
c.8383A>C (p.Thr2795Pro)
c.1838A>C
n.8469A>C
19g.38505384A>GCA071924RYR1c.8386A>G (p.Thr2796Ala)
c.8383A>G (p.Thr2795Ala)
c.1838A>G
n.8469A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505384A>TCA071930RYR1c.8386A>T (p.Thr2796Ser)
c.8383A>T (p.Thr2795Ser)
c.1838A>T
n.8469A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38505385C>ACA405677753RYR1c.8387C>A (p.Thr2796Asn)
c.8384C>A (p.Thr2795Asn)
c.1839C>A
n.8470C>A
 gnomAD v4
19g.38505385C=CA2335056139RYR1c.8387C= (p.Thr2796=)
c.8384C= (p.Thr2795=)
c.1839C=
n.8470C=
19g.38505385C>GCA405677756RYR1c.8387C>G (p.Thr2796Ser)
c.8384C>G (p.Thr2795Ser)
c.1839C>G
n.8470C>G
19g.38505385C>TCA405677750RYR1c.8387C>T (p.Thr2796Ile)
c.8384C>T (p.Thr2795Ile)
c.1839C>T
n.8470C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38505386C>ACA507244548RYR1c.8388C>A (p.Thr2796=)
c.8385C>A (p.Thr2795=)
c.1840C>A
n.8471C>A
 gnomAD v4
19g.38505386C=CA2335056140RYR1c.8388C= (p.Thr2796=)
c.8385C= (p.Thr2795=)
c.1840C=
n.8471C=
19g.38505386C>GCA507244550RYR1c.8388C>G (p.Thr2796=)
c.8385C>G (p.Thr2795=)
c.1840C>G
n.8471C>G
19g.38505386C>TCA071935RYR1c.8388C>T (p.Thr2796=)
c.8385C>T (p.Thr2795=)
c.1840C>T
n.8471C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38505387T>ACA405677758RYR1c.8389T>A (p.Phe2797Ile)
c.8386T>A (p.Phe2796Ile)
c.1841T>A
n.8472T>A
19g.38505387T>CCA405677762RYR1c.8389T>C (p.Phe2797Leu)
c.8386T>C (p.Phe2796Leu)
c.1841T>C
n.8472T>C
 gnomAD v4
19g.38505387T>GCA405677760RYR1c.8389T>G (p.Phe2797Val)
c.8386T>G (p.Phe2796Val)
c.1841T>G
n.8472T>G
19g.38505390delCA2584901699RYR1c.8392del (p.Ser2798GlnfsTer16)
c.8389del (p.Ser2797GlnfsTer16)
c.1844del
n.8475del
 gnomAD v4
19g.38505388T>ACA405677766RYR1c.8390T>A (p.Phe2797Tyr)
c.8387T>A (p.Phe2796Tyr)
c.1842T>A
n.8473T>A
19g.38505388T>CCA405677781RYR1c.8390T>C (p.Phe2797Ser)
c.8387T>C (p.Phe2796Ser)
c.1842T>C
n.8473T>C
19g.38505388T>GCA405677774RYR1c.8390T>G (p.Phe2797Cys)
c.8387T>G (p.Phe2796Cys)
c.1842T>G
n.8473T>G
19g.38505389T>ACA405677786RYR1c.8391T>A (p.Phe2797Leu)
c.8388T>A (p.Phe2796Leu)
c.1843T>A
n.8474T>A
19g.38505389T>CCA507244565RYR1c.8391T>C (p.Phe2797=)
c.8388T>C (p.Phe2796=)
c.1843T>C
n.8474T>C
 gnomAD v4
19g.38505389T>GCA405677789RYR1c.8391T>G (p.Phe2797Leu)
c.8388T>G (p.Phe2796Leu)
c.1843T>G
n.8474T>G
19g.38505390T>ACA405677794RYR1c.8392T>A (p.Ser2798Thr)
c.8389T>A (p.Ser2797Thr)
c.1844T>A
n.8475T>A
19g.38505390T>CCA405677806RYR1c.8392T>C (p.Ser2798Pro)
c.8389T>C (p.Ser2797Pro)
c.1844T>C
n.8475T>C
19g.38505390T>GCA405677817RYR1c.8392T>G (p.Ser2798Ala)
c.8389T>G (p.Ser2797Ala)
c.1844T>G
n.8475T>G
19g.38505391C>ACA405677820RYR1c.8393C>A (p.Ser2798Ter)
c.8390C>A (p.Ser2797Ter)
c.1845C>A
n.8476C>A
 gnomAD v4
19g.38505391C>GCA405677822RYR1c.8393C>G (p.Ser2798Ter)
c.8390C>G (p.Ser2797Ter)
c.1845C>G
n.8476C>G
19g.38505391C>TCA405677824RYR1c.8393C>T (p.Ser2798Leu)
c.8390C>T (p.Ser2797Leu)
c.1845C>T
n.8476C>T
19g.38505392A>CCA507244581RYR1c.8394A>C (p.Ser2798=)
c.8391A>C (p.Ser2797=)
c.1846A>C
n.8477A>C
19g.38505392A>GCA507244576RYR1c.8394A>G (p.Ser2798=)
c.8391A>G (p.Ser2797=)
c.1846A>G
n.8477A>G
 gnomAD v4
19g.38505392A>TCA507244579RYR1c.8394A>T (p.Ser2798=)
c.8391A>T (p.Ser2797=)
c.1846A>T
n.8477A>T
 ClinVar
19g.38505393G>ACA405677825RYR1c.8395G>A (p.Glu2799Lys)
c.8392G>A (p.Glu2798Lys)
c.1847G>A
n.8478G>A
 gnomAD v4 COSMIC
19g.38505393G>CCA405677828RYR1c.8395G>C (p.Glu2799Gln)
c.8392G>C (p.Glu2798Gln)
c.1847G>C
n.8478G>C
19g.38505393G>TCA405677849RYR1c.8395G>T (p.Glu2799Ter)
c.8392G>T (p.Glu2798Ter)
c.1847G>T
n.8478G>T
 gnomAD v4
19g.38505394A>CCA405677865RYR1c.8396A>C (p.Glu2799Ala)
c.8393A>C (p.Glu2798Ala)
c.1848A>C
n.8479A>C
19g.38505394A>GCA405677859RYR1c.8396A>G (p.Glu2799Gly)
c.8393A>G (p.Glu2798Gly)
c.1848A>G
n.8479A>G
 gnomAD v4
19g.38505394A>TCA405677862RYR1c.8396A>T (p.Glu2799Val)
c.8393A>T (p.Glu2798Val)
c.1848A>T
n.8479A>T
19g.38505395G>ACA507244593RYR1c.8397G>A (p.Glu2799=)
c.8394G>A (p.Glu2798=)
c.1849G>A
n.8480G>A
19g.38505395G>CCA405677869RYR1c.8397G>C (p.Glu2799Asp)
c.8394G>C (p.Glu2798Asp)
c.1849G>C
n.8480G>C
19g.38505395G>TCA405677872RYR1c.8397G>T (p.Glu2799Asp)
c.8394G>T (p.Glu2798Asp)
c.1849G>T
n.8480G>T
19g.38505396A>CCA405677875RYR1c.8398A>C (p.Lys2800Gln)
c.8395A>C (p.Lys2799Gln)
c.1850A>C
n.8481A>C
19g.38505396A>GCA405677876RYR1c.8398A>G (p.Lys2800Glu)
c.8395A>G (p.Lys2799Glu)
c.1850A>G
n.8481A>G
 gnomAD v4
19g.38505396A>TCA405677877RYR1c.8398A>T (p.Lys2800Ter)
c.8395A>T (p.Lys2799Ter)
c.1850A>T
n.8481A>T
 gnomAD v4
19g.38505397A=CA2335056141RYR1c.8399A= (p.Lys2800=)
c.8396A= (p.Lys2799=)
c.1851A=
n.8482A=
19g.38505397A>CCA405677878RYR1c.8399A>C (p.Lys2800Thr)
c.8396A>C (p.Lys2799Thr)
c.1851A>C
n.8482A>C
19g.38505397A>GCA405677879RYR1c.8399A>G (p.Lys2800Arg)
c.8396A>G (p.Lys2799Arg)
c.1851A>G
n.8482A>G
 dbSNP gnomAD v2 gnomAD v4
19g.38505397A>TCA405677880RYR1c.8399A>T (p.Lys2800Met)
c.8396A>T (p.Lys2799Met)
c.1851A>T
n.8482A>T
19g.38505398G>ACA507244609RYR1c.8400G>A (p.Lys2800=)
c.8397G>A (p.Lys2799=)
c.1852G>A
n.8483G>A
19g.38505398G>CCA405677881RYR1c.8400G>C (p.Lys2800Asn)
c.8397G>C (p.Lys2799Asn)
c.1852G>C
n.8483G>C
19g.38505398G>TCA405677882RYR1c.8400G>T (p.Lys2800Asn)
c.8397G>T (p.Lys2799Asn)
c.1852G>T
n.8483G>T
19g.38505399G>ACA405677887RYR1c.8400+1G>A (n.8400+1G>A)
c.8397+1G>A (n.8397+1G>A)
c.1852+1G>A
n.8483+1G>A
19g.38505399G>CCA405677888RYR1c.8400+1G>C (n.8400+1G>C)
c.8397+1G>C (n.8397+1G>C)
c.1852+1G>C
n.8483+1G>C
19g.38505399G>TCA405677886RYR1c.8400+1G>T (n.8400+1G>T)
c.8397+1G>T (n.8397+1G>T)
c.1852+1G>T
n.8483+1G>T
19g.38505400T>ACA16043101RYR1c.8400+2T>A (n.8400+2T>A)
c.8397+2T>A (n.8397+2T>A)
c.1852+2T>A
n.8483+2T>A
 ClinVar dbSNP
19g.38505400T>CCA405677896RYR1c.8400+2T>C (n.8400+2T>C)
c.8397+2T>C (n.8397+2T>C)
c.1852+2T>C
n.8483+2T>C
 ClinVar gnomAD v4
19g.38505400T>GCA405677900RYR1c.8400+2T>G (n.8400+2T>G)
c.8397+2T>G (n.8397+2T>G)
c.1852+2T>G
n.8483+2T>G
19g.38505400T=CA2335056142RYR1c.8400+2T= (n.8400+2T=)
c.8397+2T= (n.8397+2T=)
c.1852+2T=
n.8483+2T=
19g.38505401G>CCA2736029613RYR1c.8400+3G>C (n.8400+3G>C)
c.8397+3G>C (n.8397+3G>C)
c.1852+3G>C
n.8483+3G>C
 dbSNP
19g.38505401G>TCA2584901700RYR1c.8400+3G>T (n.8400+3G>T)
c.8397+3G>T (n.8397+3G>T)
c.1852+3G>T
n.8483+3G>T
 gnomAD v4
19g.38505402A>GCA2584901701RYR1c.8400+4A>G (n.8400+4A>G)
c.8397+4A>G (n.8397+4A>G)
c.1852+4A>G
n.8483+4A>G
 gnomAD v4
19g.38505402A>TCA2584901702RYR1c.8400+4A>T (n.8400+4A>T)
c.8397+4A>T (n.8397+4A>T)
c.1852+4A>T
n.8483+4A>T
 gnomAD v4

Number of alleles fetched