Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
19g.38504238G>CCA405675470RYR1c.7945G>C (p.Glu2649Gln)
c.7942G>C (p.Glu2648Gln)
c.1397G>C
n.8028G>C
19g.38504238G>TCA405675476RYR1c.7945G>T (p.Glu2649Ter)
c.7942G>T (p.Glu2648Ter)
c.1397G>T
n.8028G>T
19g.38504239A>CCA405675478RYR1c.7946A>C (p.Glu2649Ala)
c.7943A>C (p.Glu2648Ala)
c.1398A>C
n.8029A>C
19g.38504239A>GCA405675482RYR1c.7946A>G (p.Glu2649Gly)
c.7943A>G (p.Glu2648Gly)
c.1398A>G
n.8029A>G
19g.38504239A>TCA405675484RYR1c.7946A>T (p.Glu2649Val)
c.7943A>T (p.Glu2648Val)
c.1398A>T
n.8029A>T
19g.38504240G>ACA507244149RYR1c.7947G>A (p.Glu2649=)
c.7944G>A (p.Glu2648=)
c.1399G>A
n.8030G>A
 COSMIC
19g.38504240G>CCA405675488RYR1c.7947G>C (p.Glu2649Asp)
c.7944G>C (p.Glu2648Asp)
c.1399G>C
n.8030G>C
19g.38504240G>TCA405675490RYR1c.7947G>T (p.Glu2649Asp)
c.7944G>T (p.Glu2648Asp)
c.1399G>T
n.8030G>T
19g.38504241C>ACA405675496RYR1c.7948C>A (p.Arg2650Ser)
c.7945C>A (p.Arg2649Ser)
c.1400C>A
n.8031C>A
 gnomAD v4
19g.38504241C=CA2335055575RYR1c.7948C= (p.Arg2650=)
c.7945C= (p.Arg2649=)
c.1400C=
n.8031C=
19g.38504241C>GCA405675498RYR1c.7948C>G (p.Arg2650Gly)
c.7945C>G (p.Arg2649Gly)
c.1400C>G
n.8031C>G
 gnomAD v4
19g.38504241C>TCA405675509RYR1c.7948C>T (p.Arg2650Cys)
c.7945C>T (p.Arg2649Cys)
c.1400C>T
n.8031C>T
 ClinVar dbSNP gnomAD v4
19g.38504242G>ACA071152RYR1c.7949G>A (p.Arg2650His)
c.7946G>A (p.Arg2649His)
c.1401G>A
n.8032G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38504242G>CCA405675516RYR1c.7949G>C (p.Arg2650Pro)
c.7946G>C (p.Arg2649Pro)
c.1401G>C
n.8032G>C
19g.38504242G=CA2335055576RYR1c.7949G= (p.Arg2650=)
c.7946G= (p.Arg2649=)
c.1401G=
n.8032G=
19g.38504242G>TCA405675517RYR1c.7949G>T (p.Arg2650Leu)
c.7946G>T (p.Arg2649Leu)
c.1401G>T
n.8032G>T
 dbSNP COSMIC

Number of alleles fetched