Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38504223C>ACA405675356RYR1c.7930C>A (p.Leu2644Ile)
c.7927C>A (p.Leu2643Ile)
c.1382C>A
n.8013C>A
 COSMIC
19g.38504223C>GCA405675357RYR1c.7930C>G (p.Leu2644Val)
c.7927C>G (p.Leu2643Val)
c.1382C>G
n.8013C>G
19g.38504223C>TCA405675359RYR1c.7930C>T (p.Leu2644Phe)
c.7927C>T (p.Leu2643Phe)
c.1382C>T
n.8013C>T
 gnomAD v4 COSMIC
19g.38504224T>ACA405675362RYR1c.7931T>A (p.Leu2644His)
c.7928T>A (p.Leu2643His)
c.1383T>A
n.8014T>A
19g.38504224T>CCA405675373RYR1c.7931T>C (p.Leu2644Pro)
c.7928T>C (p.Leu2643Pro)
c.1383T>C
n.8014T>C
19g.38504224T>GCA405675375RYR1c.7931T>G (p.Leu2644Arg)
c.7928T>G (p.Leu2643Arg)
c.1383T>G
n.8014T>G
19g.38504225C>ACA507244140RYR1c.7932C>A (p.Leu2644=)
c.7929C>A (p.Leu2643=)
c.1384C>A
n.8015C>A
19g.38504225C>GCA507244141RYR1c.7932C>G (p.Leu2644=)
c.7929C>G (p.Leu2643=)
c.1384C>G
n.8015C>G
19g.38504225C>TCA507244142RYR1c.7932C>T (p.Leu2644=)
c.7929C>T (p.Leu2643=)
c.1384C>T
n.8015C>T
 dbSNP gnomAD v4
19g.38504226A=CA2335055571RYR1c.7933A= (p.Thr2645=)
c.7930A= (p.Thr2644=)
c.1385A=
n.8016A=
19g.38504226A>CCA405675379RYR1c.7933A>C (p.Thr2645Pro)
c.7930A>C (p.Thr2644Pro)
c.1385A>C
n.8016A>C
 dbSNP
19g.38504226A>GCA071134RYR1c.7933A>G (p.Thr2645Ala)
c.7930A>G (p.Thr2644Ala)
c.1385A>G
n.8016A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504226A>TCA405675389RYR1c.7933A>T (p.Thr2645Ser)
c.7930A>T (p.Thr2644Ser)
c.1385A>T
n.8016A>T
19g.38504227C>ACA405675395RYR1c.7934C>A (p.Thr2645Asn)
c.7931C>A (p.Thr2644Asn)
c.1386C>A
n.8017C>A
19g.38504227C>GCA405675397RYR1c.7934C>G (p.Thr2645Ser)
c.7931C>G (p.Thr2644Ser)
c.1386C>G
n.8017C>G
19g.38504227C>TCA405675399RYR1c.7934C>T (p.Thr2645Ile)
c.7931C>T (p.Thr2644Ile)
c.1386C>T
n.8017C>T
19g.38504228C>ACA507244143RYR1c.7935C>A (p.Thr2645=)
c.7932C>A (p.Thr2644=)
c.1387C>A
n.8018C>A
19g.38504228C>GCA507244144RYR1c.7935C>G (p.Thr2645=)
c.7932C>G (p.Thr2644=)
c.1387C>G
n.8018C>G
19g.38504228C>TCA507244145RYR1c.7935C>T (p.Thr2645=)
c.7932C>T (p.Thr2644=)
c.1387C>T
n.8018C>T
 gnomAD v4
19g.38504229A=CA2335055572RYR1c.7936A= (p.Asn2646=)
c.7933A= (p.Asn2645=)
c.1388A=
n.8019A=
19g.38504229A>CCA405675407RYR1c.7936A>C (p.Asn2646His)
c.7933A>C (p.Asn2645His)
c.1388A>C
n.8019A>C
19g.38504229A>GCA071140RYR1c.7936A>G (p.Asn2646Asp)
c.7933A>G (p.Asn2645Asp)
c.1388A>G
n.8019A>G
 ClinVar dbSNP ExAC gnomAD v2
19g.38504229A>TCA405675403RYR1c.7936A>T (p.Asn2646Tyr)
c.7933A>T (p.Asn2645Tyr)
c.1388A>T
n.8019A>T
19g.38504230A>CCA405675416RYR1c.7937A>C (p.Asn2646Thr)
c.7934A>C (p.Asn2645Thr)
c.1389A>C
n.8020A>C
 gnomAD v4
19g.38504230A>GCA405675425RYR1c.7937A>G (p.Asn2646Ser)
c.7934A>G (p.Asn2645Ser)
c.1389A>G
n.8020A>G
19g.38504230A>TCA405675428RYR1c.7937A>T (p.Asn2646Ile)
c.7934A>T (p.Asn2645Ile)
c.1389A>T
n.8020A>T
19g.38504231C>ACA405675431RYR1c.7938C>A (p.Asn2646Lys)
c.7935C>A (p.Asn2645Lys)
c.1390C>A
n.8021C>A
19g.38504231C=CA2335055573RYR1c.7938C= (p.Asn2646=)
c.7935C= (p.Asn2645=)
c.1390C=
n.8021C=
19g.38504231C>GCA405675432RYR1c.7938C>G (p.Asn2646Lys)
c.7935C>G (p.Asn2645Lys)
c.1390C>G
n.8021C>G
19g.38504231C>TCA071145RYR1c.7938C>T (p.Asn2646=)
c.7935C>T (p.Asn2645=)
c.1390C>T
n.8021C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504232C>ACA405675433RYR1c.7939C>A (p.His2647Asn)
c.7936C>A (p.His2646Asn)
c.1391C>A
n.8022C>A
 gnomAD v4
19g.38504232C>GCA405675435RYR1c.7939C>G (p.His2647Asp)
c.7936C>G (p.His2646Asp)
c.1391C>G
n.8022C>G
19g.38504232C>TCA405675434RYR1c.7939C>T (p.His2647Tyr)
c.7936C>T (p.His2646Tyr)
c.1391C>T
n.8022C>T
 gnomAD v4
19g.38504233A>CCA405675438RYR1c.7940A>C (p.His2647Pro)
c.7937A>C (p.His2646Pro)
c.1392A>C
n.8023A>C
19g.38504233A>GCA405675439RYR1c.7940A>G (p.His2647Arg)
c.7937A>G (p.His2646Arg)
c.1392A>G
n.8023A>G
19g.38504233A>TCA405675440RYR1c.7940A>T (p.His2647Leu)
c.7937A>T (p.His2646Leu)
c.1392A>T
n.8023A>T
19g.38504234C>ACA405675441RYR1c.7941C>A (p.His2647Gln)
c.7938C>A (p.His2646Gln)
c.1393C>A
n.8024C>A
19g.38504234C=CA2335055574RYR1c.7941C= (p.His2647=)
c.7938C= (p.His2646=)
c.1393C=
n.8024C=
19g.38504234C>GCA071151RYR1c.7941C>G (p.His2647Gln)
c.7938C>G (p.His2646Gln)
c.1393C>G
n.8024C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504234C>TCA082944RYR1c.7941C>T (p.His2647=)
c.7938C>T (p.His2646=)
c.1393C>T
n.8024C>T
 gnomAD v4
19g.38504235T>ACA405675447RYR1c.7942T>A (p.Tyr2648Asn)
c.7939T>A (p.Tyr2647Asn)
c.1394T>A
n.8025T>A
19g.38504235T>CCA405675444RYR1c.7942T>C (p.Tyr2648His)
c.7939T>C (p.Tyr2647His)
c.1394T>C
n.8025T>C
19g.38504235T>GCA405675443RYR1c.7942T>G (p.Tyr2648Asp)
c.7939T>G (p.Tyr2647Asp)
c.1394T>G
n.8025T>G
19g.38504236A>CCA405675454RYR1c.7943A>C (p.Tyr2648Ser)
c.7940A>C (p.Tyr2647Ser)
c.1395A>C
n.8026A>C
19g.38504236A>GCA405675451RYR1c.7943A>G (p.Tyr2648Cys)
c.7940A>G (p.Tyr2647Cys)
c.1395A>G
n.8026A>G
 ClinVar COSMIC
19g.38504236A>TCA405675457RYR1c.7943A>T (p.Tyr2648Phe)
c.7940A>T (p.Tyr2647Phe)
c.1395A>T
n.8026A>T
19g.38504237T>ACA405675458RYR1c.7944T>A (p.Tyr2648Ter)
c.7941T>A (p.Tyr2647Ter)
c.1396T>A
n.8027T>A
19g.38504237T>CCA507244147RYR1c.7944T>C (p.Tyr2648=)
c.7941T>C (p.Tyr2647=)
c.1396T>C
n.8027T>C
19g.38504237T>GCA405675461RYR1c.7944T>G (p.Tyr2648Ter)
c.7941T>G (p.Tyr2647Ter)
c.1396T>G
n.8027T>G
 gnomAD v4
19g.38504238G>ACA405675466RYR1c.7945G>A (p.Glu2649Lys)
c.7942G>A (p.Glu2648Lys)
c.1397G>A
n.8028G>A

Number of alleles fetched