Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.10375401C=CA1345182235ATP2B2c.1281+29G= (n.1281+29G=)
c.1383+29G= (n.1383+29G=)
c.1416+29G= (n.1416+29G=)
c.1323+29G= (n.1323+29G=)
c.675+29G= (n.675+29G=)
c.984+29G= (n.984+29G=)
c.348+29G= (n.348+29G=)
3g.10375401C>GCA2253672ATP2B2c.1281+29G>C (n.1281+29G>C)
c.1383+29G>C (n.1383+29G>C)
c.1416+29G>C (n.1416+29G>C)
c.1323+29G>C (n.1323+29G>C)
c.675+29G>C (n.675+29G>C)
c.984+29G>C (n.984+29G>C)
c.348+29G>C (n.348+29G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375401C>TCA2253671ATP2B2c.1281+29G>A (n.1281+29G>A)
c.1383+29G>A (n.1383+29G>A)
c.1416+29G>A (n.1416+29G>A)
c.1323+29G>A (n.1323+29G>A)
c.675+29G>A (n.675+29G>A)
c.984+29G>A (n.984+29G>A)
c.348+29G>A (n.348+29G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375402G>ACA2253673ATP2B2c.1281+28C>T (n.1281+28C>T)
c.1383+28C>T (n.1383+28C>T)
c.1416+28C>T (n.1416+28C>T)
c.1323+28C>T (n.1323+28C>T)
c.675+28C>T (n.675+28C>T)
c.984+28C>T (n.984+28C>T)
c.348+28C>T (n.348+28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375402G=CA1345182237ATP2B2c.1281+28C= (n.1281+28C=)
c.1383+28C= (n.1383+28C=)
c.1416+28C= (n.1416+28C=)
c.1323+28C= (n.1323+28C=)
c.675+28C= (n.675+28C=)
c.984+28C= (n.984+28C=)
c.348+28C= (n.348+28C=)
3g.10375402G>TCA2664425139ATP2B2c.1281+28C>A (n.1281+28C>A)
c.1383+28C>A (n.1383+28C>A)
c.1416+28C>A (n.1416+28C>A)
c.1323+28C>A (n.1323+28C>A)
c.675+28C>A (n.675+28C>A)
c.984+28C>A (n.984+28C>A)
c.348+28C>A (n.348+28C>A)
 gnomAD v4
3g.10375403G>ACA70115999ATP2B2c.1281+27C>T (n.1281+27C>T)
c.1383+27C>T (n.1383+27C>T)
c.1416+27C>T (n.1416+27C>T)
c.1323+27C>T (n.1323+27C>T)
c.675+27C>T (n.675+27C>T)
c.984+27C>T (n.984+27C>T)
c.348+27C>T (n.348+27C>T)
 dbSNP
3g.10375403G=CA1345182240ATP2B2c.1281+27C= (n.1281+27C=)
c.1383+27C= (n.1383+27C=)
c.1416+27C= (n.1416+27C=)
c.1323+27C= (n.1323+27C=)
c.675+27C= (n.675+27C=)
c.984+27C= (n.984+27C=)
c.348+27C= (n.348+27C=)
3g.10375403G>TCA2664425140ATP2B2c.1281+27C>A (n.1281+27C>A)
c.1383+27C>A (n.1383+27C>A)
c.1416+27C>A (n.1416+27C>A)
c.1323+27C>A (n.1323+27C>A)
c.675+27C>A (n.675+27C>A)
c.984+27C>A (n.984+27C>A)
c.348+27C>A (n.348+27C>A)
 gnomAD v4
3g.10375404C>TCA2664425141ATP2B2c.1281+26G>A (n.1281+26G>A)
c.1383+26G>A (n.1383+26G>A)
c.1416+26G>A (n.1416+26G>A)
c.1323+26G>A (n.1323+26G>A)
c.675+26G>A (n.675+26G>A)
c.984+26G>A (n.984+26G>A)
c.348+26G>A (n.348+26G>A)
 gnomAD v4
3g.10375406G>ACA540901976ATP2B2c.1281+24C>T (n.1281+24C>T)
c.1383+24C>T (n.1383+24C>T)
c.1416+24C>T (n.1416+24C>T)
c.1323+24C>T (n.1323+24C>T)
c.675+24C>T (n.675+24C>T)
c.984+24C>T (n.984+24C>T)
c.348+24C>T (n.348+24C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.10375406G=CA1345182242ATP2B2c.1281+24C= (n.1281+24C=)
c.1383+24C= (n.1383+24C=)
c.1416+24C= (n.1416+24C=)
c.1323+24C= (n.1323+24C=)
c.675+24C= (n.675+24C=)
c.984+24C= (n.984+24C=)
c.348+24C= (n.348+24C=)
3g.10375406G>TCA2664425142ATP2B2c.1281+24C>A (n.1281+24C>A)
c.1383+24C>A (n.1383+24C>A)
c.1416+24C>A (n.1416+24C>A)
c.1323+24C>A (n.1323+24C>A)
c.675+24C>A (n.675+24C>A)
c.984+24C>A (n.984+24C>A)
c.348+24C>A (n.348+24C>A)
 gnomAD v4
3g.10375407G>ACA2664425143ATP2B2c.1281+23C>T (n.1281+23C>T)
c.1383+23C>T (n.1383+23C>T)
c.1416+23C>T (n.1416+23C>T)
c.1323+23C>T (n.1323+23C>T)
c.675+23C>T (n.675+23C>T)
c.984+23C>T (n.984+23C>T)
c.348+23C>T (n.348+23C>T)
 gnomAD v4
3g.10375407G>TCA2664425144ATP2B2c.1281+23C>A (n.1281+23C>A)
c.1383+23C>A (n.1383+23C>A)
c.1416+23C>A (n.1416+23C>A)
c.1323+23C>A (n.1323+23C>A)
c.675+23C>A (n.675+23C>A)
c.984+23C>A (n.984+23C>A)
c.348+23C>A (n.348+23C>A)
 gnomAD v4
3g.10375408T>GCA1345182245ATP2B2c.1281+22A>C (n.1281+22A>C)
c.1383+22A>C (n.1383+22A>C)
c.1416+22A>C (n.1416+22A>C)
c.1323+22A>C (n.1323+22A>C)
c.675+22A>C (n.675+22A>C)
c.984+22A>C (n.984+22A>C)
c.348+22A>C (n.348+22A>C)
 dbSNP
3g.10375408T=CA1345182244ATP2B2c.1281+22A= (n.1281+22A=)
c.1383+22A= (n.1383+22A=)
c.1416+22A= (n.1416+22A=)
c.1323+22A= (n.1323+22A=)
c.675+22A= (n.675+22A=)
c.984+22A= (n.984+22A=)
c.348+22A= (n.348+22A=)
3g.10375409C>ACA2664425145ATP2B2c.1281+21G>T (n.1281+21G>T)
c.1383+21G>T (n.1383+21G>T)
c.1416+21G>T (n.1416+21G>T)
c.1323+21G>T (n.1323+21G>T)
c.675+21G>T (n.675+21G>T)
c.984+21G>T (n.984+21G>T)
c.348+21G>T (n.348+21G>T)
 gnomAD v4
3g.10375409C=CA1345182246ATP2B2c.1281+21G= (n.1281+21G=)
c.1383+21G= (n.1383+21G=)
c.1416+21G= (n.1416+21G=)
c.1323+21G= (n.1323+21G=)
c.675+21G= (n.675+21G=)
c.984+21G= (n.984+21G=)
c.348+21G= (n.348+21G=)
3g.10375409C>GCA1345182248ATP2B2c.1281+21G>C (n.1281+21G>C)
c.1383+21G>C (n.1383+21G>C)
c.1416+21G>C (n.1416+21G>C)
c.1323+21G>C (n.1323+21G>C)
c.675+21G>C (n.675+21G>C)
c.984+21G>C (n.984+21G>C)
c.348+21G>C (n.348+21G>C)
 dbSNP
3g.10375410C>TCA2664425146ATP2B2c.1281+20G>A (n.1281+20G>A)
c.1383+20G>A (n.1383+20G>A)
c.1416+20G>A (n.1416+20G>A)
c.1323+20G>A (n.1323+20G>A)
c.675+20G>A (n.675+20G>A)
c.984+20G>A (n.984+20G>A)
c.348+20G>A (n.348+20G>A)
 gnomAD v4
3g.10375412G>ACA1345182251ATP2B2c.1281+18C>T (n.1281+18C>T)
c.1383+18C>T (n.1383+18C>T)
c.1416+18C>T (n.1416+18C>T)
c.1323+18C>T (n.1323+18C>T)
c.675+18C>T (n.675+18C>T)
c.984+18C>T (n.984+18C>T)
c.348+18C>T (n.348+18C>T)
 ClinVar dbSNP gnomAD v4
3g.10375412G>CCA2577507045ATP2B2c.1281+18C>G (n.1281+18C>G)
c.1383+18C>G (n.1383+18C>G)
c.1416+18C>G (n.1416+18C>G)
c.1323+18C>G (n.1323+18C>G)
c.675+18C>G (n.675+18C>G)
c.984+18C>G (n.984+18C>G)
c.348+18C>G (n.348+18C>G)
3g.10375412G=CA1345182250ATP2B2c.1281+18C= (n.1281+18C=)
c.1383+18C= (n.1383+18C=)
c.1416+18C= (n.1416+18C=)
c.1323+18C= (n.1323+18C=)
c.675+18C= (n.675+18C=)
c.984+18C= (n.984+18C=)
c.348+18C= (n.348+18C=)
3g.10375412G>TCA2577507046ATP2B2c.1281+18C>A (n.1281+18C>A)
c.1383+18C>A (n.1383+18C>A)
c.1416+18C>A (n.1416+18C>A)
c.1323+18C>A (n.1323+18C>A)
c.675+18C>A (n.675+18C>A)
c.984+18C>A (n.984+18C>A)
c.348+18C>A (n.348+18C>A)
3g.10375413C>ACA2664425147ATP2B2c.1281+17G>T (n.1281+17G>T)
c.1383+17G>T (n.1383+17G>T)
c.1416+17G>T (n.1416+17G>T)
c.1323+17G>T (n.1323+17G>T)
c.675+17G>T (n.675+17G>T)
c.984+17G>T (n.984+17G>T)
c.348+17G>T (n.348+17G>T)
 gnomAD v4
3g.10375413C=CA1345182253ATP2B2c.1281+17G= (n.1281+17G=)
c.1383+17G= (n.1383+17G=)
c.1416+17G= (n.1416+17G=)
c.1323+17G= (n.1323+17G=)
c.675+17G= (n.675+17G=)
c.984+17G= (n.984+17G=)
c.348+17G= (n.348+17G=)
3g.10375413C>GCA2253674ATP2B2c.1281+17G>C (n.1281+17G>C)
c.1383+17G>C (n.1383+17G>C)
c.1416+17G>C (n.1416+17G>C)
c.1323+17G>C (n.1323+17G>C)
c.675+17G>C (n.675+17G>C)
c.984+17G>C (n.984+17G>C)
c.348+17G>C (n.348+17G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375413C>TCA2253675ATP2B2c.1281+17G>A (n.1281+17G>A)
c.1383+17G>A (n.1383+17G>A)
c.1416+17G>A (n.1416+17G>A)
c.1323+17G>A (n.1323+17G>A)
c.675+17G>A (n.675+17G>A)
c.984+17G>A (n.984+17G>A)
c.348+17G>A (n.348+17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375414T>GCA2577507047ATP2B2c.1281+16A>C (n.1281+16A>C)
c.1383+16A>C (n.1383+16A>C)
c.1416+16A>C (n.1416+16A>C)
c.1323+16A>C (n.1323+16A>C)
c.675+16A>C (n.675+16A>C)
c.984+16A>C (n.984+16A>C)
c.348+16A>C (n.348+16A>C)
3g.10375415C=CA1345182257ATP2B2c.1281+15G= (n.1281+15G=)
c.1383+15G= (n.1383+15G=)
c.1416+15G= (n.1416+15G=)
c.1323+15G= (n.1323+15G=)
c.675+15G= (n.675+15G=)
c.984+15G= (n.984+15G=)
c.348+15G= (n.348+15G=)
3g.10375415C>GCA2664425148ATP2B2c.1281+15G>C (n.1281+15G>C)
c.1383+15G>C (n.1383+15G>C)
c.1416+15G>C (n.1416+15G>C)
c.1323+15G>C (n.1323+15G>C)
c.675+15G>C (n.675+15G>C)
c.984+15G>C (n.984+15G>C)
c.348+15G>C (n.348+15G>C)
 gnomAD v4
3g.10375415C>TCA896409402ATP2B2c.1281+15G>A (n.1281+15G>A)
c.1383+15G>A (n.1383+15G>A)
c.1416+15G>A (n.1416+15G>A)
c.1323+15G>A (n.1323+15G>A)
c.675+15G>A (n.675+15G>A)
c.984+15G>A (n.984+15G>A)
c.348+15G>A (n.348+15G>A)
 dbSNP
3g.10375416T>CCA540901977ATP2B2c.1281+14A>G (n.1281+14A>G)
c.1383+14A>G (n.1383+14A>G)
c.1416+14A>G (n.1416+14A>G)
c.1323+14A>G (n.1323+14A>G)
c.675+14A>G (n.675+14A>G)
c.984+14A>G (n.984+14A>G)
c.348+14A>G (n.348+14A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.10375416T=CA1345182261ATP2B2c.1281+14A= (n.1281+14A=)
c.1383+14A= (n.1383+14A=)
c.1416+14A= (n.1416+14A=)
c.1323+14A= (n.1323+14A=)
c.675+14A= (n.675+14A=)
c.984+14A= (n.984+14A=)
c.348+14A= (n.348+14A=)
3g.10375417C=CA1345182264ATP2B2c.1281+13G= (n.1281+13G=)
c.1383+13G= (n.1383+13G=)
c.1416+13G= (n.1416+13G=)
c.1323+13G= (n.1323+13G=)
c.675+13G= (n.675+13G=)
c.984+13G= (n.984+13G=)
c.348+13G= (n.348+13G=)
3g.10375417C>TCA540901978ATP2B2c.1281+13G>A (n.1281+13G>A)
c.1383+13G>A (n.1383+13G>A)
c.1416+13G>A (n.1416+13G>A)
c.1323+13G>A (n.1323+13G>A)
c.675+13G>A (n.675+13G>A)
c.984+13G>A (n.984+13G>A)
c.348+13G>A (n.348+13G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.10375418C=CA1345182266ATP2B2c.1281+12G= (n.1281+12G=)
c.1383+12G= (n.1383+12G=)
c.1416+12G= (n.1416+12G=)
c.1323+12G= (n.1323+12G=)
c.675+12G= (n.675+12G=)
c.984+12G= (n.984+12G=)
c.348+12G= (n.348+12G=)
3g.10375418C>TCA2253676ATP2B2c.1281+12G>A (n.1281+12G>A)
c.1383+12G>A (n.1383+12G>A)
c.1416+12G>A (n.1416+12G>A)
c.1323+12G>A (n.1323+12G>A)
c.675+12G>A (n.675+12G>A)
c.984+12G>A (n.984+12G>A)
c.348+12G>A (n.348+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375419T>CCA540901981ATP2B2c.1281+11A>G (n.1281+11A>G)
c.1383+11A>G (n.1383+11A>G)
c.1416+11A>G (n.1416+11A>G)
c.1323+11A>G (n.1323+11A>G)
c.675+11A>G (n.675+11A>G)
c.984+11A>G (n.984+11A>G)
c.348+11A>G (n.348+11A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.10375419T=CA1345182269ATP2B2c.1281+11A= (n.1281+11A=)
c.1383+11A= (n.1383+11A=)
c.1416+11A= (n.1416+11A=)
c.1323+11A= (n.1323+11A=)
c.675+11A= (n.675+11A=)
c.984+11A= (n.984+11A=)
c.348+11A= (n.348+11A=)
3g.10375420C>ACA540901983ATP2B2c.1281+10G>T (n.1281+10G>T)
c.1383+10G>T (n.1383+10G>T)
c.1416+10G>T (n.1416+10G>T)
c.1323+10G>T (n.1323+10G>T)
c.675+10G>T (n.675+10G>T)
c.984+10G>T (n.984+10G>T)
c.348+10G>T (n.348+10G>T)
 dbSNP gnomAD v2 gnomAD v4
3g.10375420C=CA1345182272ATP2B2c.1281+10G= (n.1281+10G=)
c.1383+10G= (n.1383+10G=)
c.1416+10G= (n.1416+10G=)
c.1323+10G= (n.1323+10G=)
c.675+10G= (n.675+10G=)
c.984+10G= (n.984+10G=)
c.348+10G= (n.348+10G=)
3g.10375420C>TCA540901982ATP2B2c.1281+10G>A (n.1281+10G>A)
c.1383+10G>A (n.1383+10G>A)
c.1416+10G>A (n.1416+10G>A)
c.1323+10G>A (n.1323+10G>A)
c.675+10G>A (n.675+10G>A)
c.984+10G>A (n.984+10G>A)
c.348+10G>A (n.348+10G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10375421C>ACA2577507048ATP2B2c.1281+9G>T (n.1281+9G>T)
c.1383+9G>T (n.1383+9G>T)
c.1416+9G>T (n.1416+9G>T)
c.1323+9G>T (n.1323+9G>T)
c.675+9G>T (n.675+9G>T)
c.984+9G>T (n.984+9G>T)
c.348+9G>T (n.348+9G>T)
3g.10375421C>TCA2577507049ATP2B2c.1281+9G>A (n.1281+9G>A)
c.1383+9G>A (n.1383+9G>A)
c.1416+9G>A (n.1416+9G>A)
c.1323+9G>A (n.1323+9G>A)
c.675+9G>A (n.675+9G>A)
c.984+9G>A (n.984+9G>A)
c.348+9G>A (n.348+9G>A)
 gnomAD v4
3g.10375422C=CA1345182275ATP2B2c.1281+8G= (n.1281+8G=)
c.1383+8G= (n.1383+8G=)
c.1416+8G= (n.1416+8G=)
c.1323+8G= (n.1323+8G=)
c.675+8G= (n.675+8G=)
c.984+8G= (n.984+8G=)
c.348+8G= (n.348+8G=)
3g.10375422C>TCA540901984ATP2B2c.1281+8G>A (n.1281+8G>A)
c.1383+8G>A (n.1383+8G>A)
c.1416+8G>A (n.1416+8G>A)
c.1323+8G>A (n.1323+8G>A)
c.675+8G>A (n.675+8G>A)
c.984+8G>A (n.984+8G>A)
c.348+8G>A (n.348+8G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10375423C=CA1345182278ATP2B2c.1281+7G= (n.1281+7G=)
c.1383+7G= (n.1383+7G=)
c.1416+7G= (n.1416+7G=)
c.1323+7G= (n.1323+7G=)
c.675+7G= (n.675+7G=)
c.984+7G= (n.984+7G=)
c.348+7G= (n.348+7G=)
3g.10375423C>TCA70116037ATP2B2c.1281+7G>A (n.1281+7G>A)
c.1383+7G>A (n.1383+7G>A)
c.1416+7G>A (n.1416+7G>A)
c.1323+7G>A (n.1323+7G>A)
c.675+7G>A (n.675+7G>A)
c.984+7G>A (n.984+7G>A)
c.348+7G>A (n.348+7G>A)
 dbSNP gnomAD v4
3g.10375423_10375424delinsCTCA1345182277ATP2B2c.1281+6_1281+7delinsAG (n.1281+6_1281+7delinsAG)
c.1383+6_1383+7delinsAG (n.1383+6_1383+7delinsAG)
c.1416+6_1416+7delinsAG (n.1416+6_1416+7delinsAG)
c.1323+6_1323+7delinsAG (n.1323+6_1323+7delinsAG)
c.675+6_675+7delinsAG (n.675+6_675+7delinsAG)
c.984+6_984+7delinsAG (n.984+6_984+7delinsAG)
c.348+6_348+7delinsAG (n.348+6_348+7delinsAG)
3g.10375424delCA2253677ATP2B2c.1281+6del (n.1281+6del)
c.1383+6del (n.1383+6del)
c.1416+6del (n.1416+6del)
c.1323+6del (n.1323+6del)
c.675+6del (n.675+6del)
c.984+6del (n.984+6del)
c.348+6del (n.348+6del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375424T>CCA2577507050ATP2B2c.1281+6A>G (n.1281+6A>G)
c.1383+6A>G (n.1383+6A>G)
c.1416+6A>G (n.1416+6A>G)
c.1323+6A>G (n.1323+6A>G)
c.675+6A>G (n.675+6A>G)
c.984+6A>G (n.984+6A>G)
c.348+6A>G (n.348+6A>G)
3g.10375424T>GCA2253678ATP2B2c.1281+6A>C (n.1281+6A>C)
c.1383+6A>C (n.1383+6A>C)
c.1416+6A>C (n.1416+6A>C)
c.1323+6A>C (n.1323+6A>C)
c.675+6A>C (n.675+6A>C)
c.984+6A>C (n.984+6A>C)
c.348+6A>C (n.348+6A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375424T=CA1345182281ATP2B2c.1281+6A= (n.1281+6A=)
c.1383+6A= (n.1383+6A=)
c.1416+6A= (n.1416+6A=)
c.1323+6A= (n.1323+6A=)
c.675+6A= (n.675+6A=)
c.984+6A= (n.984+6A=)
c.348+6A= (n.348+6A=)
3g.10375427C=CA1345182283ATP2B2c.1281+3G= (n.1281+3G=)
c.1383+3G= (n.1383+3G=)
c.1416+3G= (n.1416+3G=)
c.1323+3G= (n.1323+3G=)
c.675+3G= (n.675+3G=)
c.984+3G= (n.984+3G=)
c.348+3G= (n.348+3G=)
3g.10375427C>TCA2253679ATP2B2c.1281+3G>A (n.1281+3G>A)
c.1383+3G>A (n.1383+3G>A)
c.1416+3G>A (n.1416+3G>A)
c.1323+3G>A (n.1323+3G>A)
c.675+3G>A (n.675+3G>A)
c.984+3G>A (n.984+3G>A)
c.348+3G>A (n.348+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375428A=CA1345182286ATP2B2c.1281+2T= (n.1281+2T=)
c.1383+2T= (n.1383+2T=)
c.1416+2T= (n.1416+2T=)
c.1323+2T= (n.1323+2T=)
c.675+2T= (n.675+2T=)
c.984+2T= (n.984+2T=)
c.348+2T= (n.348+2T=)
3g.10375428A>CCA351784117ATP2B2c.1281+2T>G (n.1281+2T>G)
c.1383+2T>G (n.1383+2T>G)
c.1416+2T>G (n.1416+2T>G)
c.1323+2T>G (n.1323+2T>G)
c.675+2T>G (n.675+2T>G)
c.984+2T>G (n.984+2T>G)
c.348+2T>G (n.348+2T>G)
 dbSNP
3g.10375428A>GCA351784119ATP2B2c.1281+2T>C (n.1281+2T>C)
c.1383+2T>C (n.1383+2T>C)
c.1416+2T>C (n.1416+2T>C)
c.1323+2T>C (n.1323+2T>C)
c.675+2T>C (n.675+2T>C)
c.984+2T>C (n.984+2T>C)
c.348+2T>C (n.348+2T>C)
3g.10375428A>TCA351784121ATP2B2c.1281+2T>A (n.1281+2T>A)
c.1383+2T>A (n.1383+2T>A)
c.1416+2T>A (n.1416+2T>A)
c.1323+2T>A (n.1323+2T>A)
c.675+2T>A (n.675+2T>A)
c.984+2T>A (n.984+2T>A)
c.348+2T>A (n.348+2T>A)
3g.10375429C>ACA351784123ATP2B2c.1281+1G>T (n.1281+1G>T)
c.1383+1G>T (n.1383+1G>T)
c.1416+1G>T (n.1416+1G>T)
c.1323+1G>T (n.1323+1G>T)
c.675+1G>T (n.675+1G>T)
c.984+1G>T (n.984+1G>T)
c.348+1G>T (n.348+1G>T)
3g.10375429C>GCA351784124ATP2B2c.1281+1G>C (n.1281+1G>C)
c.1383+1G>C (n.1383+1G>C)
c.1416+1G>C (n.1416+1G>C)
c.1323+1G>C (n.1323+1G>C)
c.675+1G>C (n.675+1G>C)
c.984+1G>C (n.984+1G>C)
c.348+1G>C (n.348+1G>C)
3g.10375429C>TCA351784126ATP2B2c.1281+1G>A (n.1281+1G>A)
c.1383+1G>A (n.1383+1G>A)
c.1416+1G>A (n.1416+1G>A)
c.1323+1G>A (n.1323+1G>A)
c.675+1G>A (n.675+1G>A)
c.984+1G>A (n.984+1G>A)
c.348+1G>A (n.348+1G>A)
3g.10375430C>ACA351784127ATP2B2c.1281G>T (p.Lys427Asn)
c.1383G>T (p.Lys461Asn)
c.1416G>T (p.Lys472Asn)
c.1323G>T (p.Lys441Asn)
c.675G>T (p.Lys225Asn)
c.984G>T (p.Lys328Asn)
c.348G>T (p.Lys116Asn)
3g.10375430C>GCA351784128ATP2B2c.1281G>C (p.Lys427Asn)
c.1383G>C (p.Lys461Asn)
c.1416G>C (p.Lys472Asn)
c.1323G>C (p.Lys441Asn)
c.675G>C (p.Lys225Asn)
c.984G>C (p.Lys328Asn)
c.348G>C (p.Lys116Asn)
3g.10375430C>TCA432440917ATP2B2c.1281G>A (p.Lys427=)
c.1383G>A (p.Lys461=)
c.1416G>A (p.Lys472=)
c.1323G>A (p.Lys441=)
c.675G>A (p.Lys225=)
c.984G>A (p.Lys328=)
c.348G>A (p.Lys116=)
3g.10375431T>ACA351784130ATP2B2c.1280A>T (p.Lys427Met)
c.1382A>T (p.Lys461Met)
c.1415A>T (p.Lys472Met)
c.1322A>T (p.Lys441Met)
c.674A>T (p.Lys225Met)
c.983A>T (p.Lys328Met)
c.347A>T (p.Lys116Met)
3g.10375431T>CCA351784131ATP2B2c.1280A>G (p.Lys427Arg)
c.1382A>G (p.Lys461Arg)
c.1415A>G (p.Lys472Arg)
c.1322A>G (p.Lys441Arg)
c.674A>G (p.Lys225Arg)
c.983A>G (p.Lys328Arg)
c.347A>G (p.Lys116Arg)
3g.10375431T>GCA351784133ATP2B2c.1280A>C (p.Lys427Thr)
c.1382A>C (p.Lys461Thr)
c.1415A>C (p.Lys472Thr)
c.1322A>C (p.Lys441Thr)
c.674A>C (p.Lys225Thr)
c.983A>C (p.Lys328Thr)
c.347A>C (p.Lys116Thr)
3g.10375432T>ACA351784136ATP2B2c.1279A>T (p.Lys427Ter)
c.1381A>T (p.Lys461Ter)
c.1414A>T (p.Lys472Ter)
c.1321A>T (p.Lys441Ter)
c.673A>T (p.Lys225Ter)
c.982A>T (p.Lys328Ter)
c.346A>T (p.Lys116Ter)
3g.10375432T>CCA351784137ATP2B2c.1279A>G (p.Lys427Glu)
c.1381A>G (p.Lys461Glu)
c.1414A>G (p.Lys472Glu)
c.1321A>G (p.Lys441Glu)
c.673A>G (p.Lys225Glu)
c.982A>G (p.Lys328Glu)
c.346A>G (p.Lys116Glu)
3g.10375432T>GCA351784134ATP2B2c.1279A>C (p.Lys427Gln)
c.1381A>C (p.Lys461Gln)
c.1414A>C (p.Lys472Gln)
c.1321A>C (p.Lys441Gln)
c.673A>C (p.Lys225Gln)
c.982A>C (p.Lys328Gln)
c.346A>C (p.Lys116Gln)
3g.10375433C>ACA432440929ATP2B2c.1278G>T (p.Val426=)
c.1380G>T (p.Val460=)
c.1413G>T (p.Val471=)
c.1320G>T (p.Val440=)
c.672G>T (p.Val224=)
c.981G>T (p.Val327=)
c.345G>T (p.Val115=)
3g.10375433C>GCA432440928ATP2B2c.1278G>C (p.Val426=)
c.1380G>C (p.Val460=)
c.1413G>C (p.Val471=)
c.1320G>C (p.Val440=)
c.672G>C (p.Val224=)
c.981G>C (p.Val327=)
c.345G>C (p.Val115=)
3g.10375433C>TCA432440926ATP2B2c.1278G>A (p.Val426=)
c.1380G>A (p.Val460=)
c.1413G>A (p.Val471=)
c.1320G>A (p.Val440=)
c.672G>A (p.Val224=)
c.981G>A (p.Val327=)
c.345G>A (p.Val115=)
3g.10375434A>CCA351784138ATP2B2c.1277T>G (p.Val426Gly)
c.1379T>G (p.Val460Gly)
c.1412T>G (p.Val471Gly)
c.1319T>G (p.Val440Gly)
c.671T>G (p.Val224Gly)
c.980T>G (p.Val327Gly)
c.344T>G (p.Val115Gly)
3g.10375434A>GCA351784140ATP2B2c.1277T>C (p.Val426Ala)
c.1379T>C (p.Val460Ala)
c.1412T>C (p.Val471Ala)
c.1319T>C (p.Val440Ala)
c.671T>C (p.Val224Ala)
c.980T>C (p.Val327Ala)
c.344T>C (p.Val115Ala)
3g.10375434A>TCA351784142ATP2B2c.1277T>A (p.Val426Glu)
c.1379T>A (p.Val460Glu)
c.1412T>A (p.Val471Glu)
c.1319T>A (p.Val440Glu)
c.671T>A (p.Val224Glu)
c.980T>A (p.Val327Glu)
c.344T>A (p.Val115Glu)
3g.10375435C>ACA351784143ATP2B2c.1276G>T (p.Val426Leu)
c.1378G>T (p.Val460Leu)
c.1411G>T (p.Val471Leu)
c.1318G>T (p.Val440Leu)
c.670G>T (p.Val224Leu)
c.979G>T (p.Val327Leu)
c.343G>T (p.Val115Leu)
3g.10375435C>GCA351784145ATP2B2c.1276G>C (p.Val426Leu)
c.1378G>C (p.Val460Leu)
c.1411G>C (p.Val471Leu)
c.1318G>C (p.Val440Leu)
c.670G>C (p.Val224Leu)
c.979G>C (p.Val327Leu)
c.343G>C (p.Val115Leu)
3g.10375435C>TCA351784147ATP2B2c.1276G>A (p.Val426Met)
c.1378G>A (p.Val460Met)
c.1411G>A (p.Val471Met)
c.1318G>A (p.Val440Met)
c.670G>A (p.Val224Met)
c.979G>A (p.Val327Met)
c.343G>A (p.Val115Met)
3g.10375436C>ACA432440935ATP2B2c.1275G>T (p.Ser425=)
c.1377G>T (p.Ser459=)
c.1410G>T (p.Ser470=)
c.1317G>T (p.Ser439=)
c.669G>T (p.Ser223=)
c.978G>T (p.Ser326=)
c.342G>T (p.Ser114=)
3g.10375436C=CA1345182291ATP2B2c.1275G= (p.Ser425=)
c.1377G= (p.Ser459=)
c.1410G= (p.Ser470=)
c.1317G= (p.Ser439=)
c.669G= (p.Ser223=)
c.978G= (p.Ser326=)
c.342G= (p.Ser114=)
3g.10375436C>GCA2253680ATP2B2c.1275G>C (p.Ser425=)
c.1377G>C (p.Ser459=)
c.1410G>C (p.Ser470=)
c.1317G>C (p.Ser439=)
c.669G>C (p.Ser223=)
c.978G>C (p.Ser326=)
c.342G>C (p.Ser114=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375436C>TCA70116084ATP2B2c.1275G>A (p.Ser425=)
c.1377G>A (p.Ser459=)
c.1410G>A (p.Ser470=)
c.1317G>A (p.Ser439=)
c.669G>A (p.Ser223=)
c.978G>A (p.Ser326=)
c.342G>A (p.Ser114=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.10375437G>ACA351784150ATP2B2c.1274C>T (p.Ser425Leu)
c.1376C>T (p.Ser459Leu)
c.1409C>T (p.Ser470Leu)
c.1316C>T (p.Ser439Leu)
c.668C>T (p.Ser223Leu)
c.977C>T (p.Ser326Leu)
c.341C>T (p.Ser114Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.10375437G>CCA351784152ATP2B2c.1274C>G (p.Ser425Trp)
c.1376C>G (p.Ser459Trp)
c.1409C>G (p.Ser470Trp)
c.1316C>G (p.Ser439Trp)
c.668C>G (p.Ser223Trp)
c.977C>G (p.Ser326Trp)
c.341C>G (p.Ser114Trp)
3g.10375437G=CA1345182297ATP2B2c.1274C= (p.Ser425=)
c.1376C= (p.Ser459=)
c.1409C= (p.Ser470=)
c.1316C= (p.Ser439=)
c.668C= (p.Ser223=)
c.977C= (p.Ser326=)
c.341C= (p.Ser114=)
3g.10375437G>TCA351784153ATP2B2c.1274C>A (p.Ser425Ter)
c.1376C>A (p.Ser459Ter)
c.1409C>A (p.Ser470Ter)
c.1316C>A (p.Ser439Ter)
c.668C>A (p.Ser223Ter)
c.977C>A (p.Ser326Ter)
c.341C>A (p.Ser114Ter)
3g.10375438A>CCA351784155ATP2B2c.1273T>G (p.Ser425Ala)
c.1375T>G (p.Ser459Ala)
c.1408T>G (p.Ser470Ala)
c.1315T>G (p.Ser439Ala)
c.667T>G (p.Ser223Ala)
c.976T>G (p.Ser326Ala)
c.340T>G (p.Ser114Ala)
 gnomAD v4
3g.10375438A>GCA351784156ATP2B2c.1273T>C (p.Ser425Pro)
c.1375T>C (p.Ser459Pro)
c.1408T>C (p.Ser470Pro)
c.1315T>C (p.Ser439Pro)
c.667T>C (p.Ser223Pro)
c.976T>C (p.Ser326Pro)
c.340T>C (p.Ser114Pro)
3g.10375438A>TCA351784158ATP2B2c.1273T>A (p.Ser425Thr)
c.1375T>A (p.Ser459Thr)
c.1408T>A (p.Ser470Thr)
c.1315T>A (p.Ser439Thr)
c.667T>A (p.Ser223Thr)
c.976T>A (p.Ser326Thr)
c.340T>A (p.Ser114Thr)
3g.10375439A=CA1345182302ATP2B2c.1272T= (p.Tyr424=)
c.1374T= (p.Tyr458=)
c.1407T= (p.Tyr469=)
c.1314T= (p.Tyr438=)
c.666T= (p.Tyr222=)
c.975T= (p.Tyr325=)
c.339T= (p.Tyr113=)
3g.10375439A>CCA351784160ATP2B2c.1272T>G (p.Tyr424Ter)
c.1374T>G (p.Tyr458Ter)
c.1407T>G (p.Tyr469Ter)
c.1314T>G (p.Tyr438Ter)
c.666T>G (p.Tyr222Ter)
c.975T>G (p.Tyr325Ter)
c.339T>G (p.Tyr113Ter)
3g.10375439A>GCA2253681ATP2B2c.1272T>C (p.Tyr424=)
c.1374T>C (p.Tyr458=)
c.1407T>C (p.Tyr469=)
c.1314T>C (p.Tyr438=)
c.666T>C (p.Tyr222=)
c.975T>C (p.Tyr325=)
c.339T>C (p.Tyr113=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375439A>TCA351784162ATP2B2c.1272T>A (p.Tyr424Ter)
c.1374T>A (p.Tyr458Ter)
c.1407T>A (p.Tyr469Ter)
c.1314T>A (p.Tyr438Ter)
c.666T>A (p.Tyr222Ter)
c.975T>A (p.Tyr325Ter)
c.339T>A (p.Tyr113Ter)
3g.10375440T>ACA351784165ATP2B2c.1271A>T (p.Tyr424Phe)
c.1373A>T (p.Tyr458Phe)
c.1406A>T (p.Tyr469Phe)
c.1313A>T (p.Tyr438Phe)
c.665A>T (p.Tyr222Phe)
c.974A>T (p.Tyr325Phe)
c.338A>T (p.Tyr113Phe)
3g.10375440T>CCA351784166ATP2B2c.1271A>G (p.Tyr424Cys)
c.1373A>G (p.Tyr458Cys)
c.1406A>G (p.Tyr469Cys)
c.1313A>G (p.Tyr438Cys)
c.665A>G (p.Tyr222Cys)
c.974A>G (p.Tyr325Cys)
c.338A>G (p.Tyr113Cys)
3g.10375440T>GCA351784167ATP2B2c.1271A>C (p.Tyr424Ser)
c.1373A>C (p.Tyr458Ser)
c.1406A>C (p.Tyr469Ser)
c.1313A>C (p.Tyr438Ser)
c.665A>C (p.Tyr222Ser)
c.974A>C (p.Tyr325Ser)
c.338A>C (p.Tyr113Ser)
3g.10375441A>CCA351784168ATP2B2c.1270T>G (p.Tyr424Asp)
c.1372T>G (p.Tyr458Asp)
c.1405T>G (p.Tyr469Asp)
c.1312T>G (p.Tyr438Asp)
c.664T>G (p.Tyr222Asp)
c.973T>G (p.Tyr325Asp)
c.337T>G (p.Tyr113Asp)
3g.10375441A>GCA351784170ATP2B2c.1270T>C (p.Tyr424His)
c.1372T>C (p.Tyr458His)
c.1405T>C (p.Tyr469His)
c.1312T>C (p.Tyr438His)
c.664T>C (p.Tyr222His)
c.973T>C (p.Tyr325His)
c.337T>C (p.Tyr113His)
 ClinVar
3g.10375441A>TCA351784171ATP2B2c.1270T>A (p.Tyr424Asn)
c.1372T>A (p.Tyr458Asn)
c.1405T>A (p.Tyr469Asn)
c.1312T>A (p.Tyr438Asn)
c.664T>A (p.Tyr222Asn)
c.973T>A (p.Tyr325Asn)
c.337T>A (p.Tyr113Asn)
3g.10375442G>ACA432440950ATP2B2c.1269C>T (p.Ala423=)
c.1371C>T (p.Ala457=)
c.1404C>T (p.Ala468=)
c.1311C>T (p.Ala437=)
c.663C>T (p.Ala221=)
c.972C>T (p.Ala324=)
c.336C>T (p.Ala112=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10375442G>CCA432440952ATP2B2c.1269C>G (p.Ala423=)
c.1371C>G (p.Ala457=)
c.1404C>G (p.Ala468=)
c.1311C>G (p.Ala437=)
c.663C>G (p.Ala221=)
c.972C>G (p.Ala324=)
c.336C>G (p.Ala112=)
3g.10375442G=CA1345182306ATP2B2c.1269C= (p.Ala423=)
c.1371C= (p.Ala457=)
c.1404C= (p.Ala468=)
c.1311C= (p.Ala437=)
c.663C= (p.Ala221=)
c.972C= (p.Ala324=)
c.336C= (p.Ala112=)
3g.10375442G>TCA432440953ATP2B2c.1269C>A (p.Ala423=)
c.1371C>A (p.Ala457=)
c.1404C>A (p.Ala468=)
c.1311C>A (p.Ala437=)
c.663C>A (p.Ala221=)
c.972C>A (p.Ala324=)
c.336C>A (p.Ala112=)
3g.10375443G>ACA351784172ATP2B2c.1268C>T (p.Ala423Val)
c.1370C>T (p.Ala457Val)
c.1403C>T (p.Ala468Val)
c.1310C>T (p.Ala437Val)
c.662C>T (p.Ala221Val)
c.971C>T (p.Ala324Val)
c.335C>T (p.Ala112Val)
 gnomAD v4
3g.10375443G>CCA351784173ATP2B2c.1268C>G (p.Ala423Gly)
c.1370C>G (p.Ala457Gly)
c.1403C>G (p.Ala468Gly)
c.1310C>G (p.Ala437Gly)
c.662C>G (p.Ala221Gly)
c.971C>G (p.Ala324Gly)
c.335C>G (p.Ala112Gly)
3g.10375443G>TCA351784174ATP2B2c.1268C>A (p.Ala423Asp)
c.1370C>A (p.Ala457Asp)
c.1403C>A (p.Ala468Asp)
c.1310C>A (p.Ala437Asp)
c.662C>A (p.Ala221Asp)
c.971C>A (p.Ala324Asp)
c.335C>A (p.Ala112Asp)
3g.10375444C>ACA351784175ATP2B2c.1267G>T (p.Ala423Ser)
c.1369G>T (p.Ala457Ser)
c.1402G>T (p.Ala468Ser)
c.1309G>T (p.Ala437Ser)
c.661G>T (p.Ala221Ser)
c.970G>T (p.Ala324Ser)
c.334G>T (p.Ala112Ser)
3g.10375444C>GCA351784177ATP2B2c.1267G>C (p.Ala423Pro)
c.1369G>C (p.Ala457Pro)
c.1402G>C (p.Ala468Pro)
c.1309G>C (p.Ala437Pro)
c.661G>C (p.Ala221Pro)
c.970G>C (p.Ala324Pro)
c.334G>C (p.Ala112Pro)
3g.10375444C>TCA351784179ATP2B2c.1267G>A (p.Ala423Thr)
c.1369G>A (p.Ala457Thr)
c.1402G>A (p.Ala468Thr)
c.1309G>A (p.Ala437Thr)
c.661G>A (p.Ala221Thr)
c.970G>A (p.Ala324Thr)
c.334G>A (p.Ala112Thr)
3g.10375445C>ACA351784180ATP2B2c.1266G>T (p.Leu422Phe)
c.1368G>T (p.Leu456Phe)
c.1401G>T (p.Leu467Phe)
c.1308G>T (p.Leu436Phe)
c.660G>T (p.Leu220Phe)
c.969G>T (p.Leu323Phe)
c.333G>T (p.Leu111Phe)
3g.10375445C=CA1345182310ATP2B2c.1266G= (p.Leu422=)
c.1368G= (p.Leu456=)
c.1401G= (p.Leu467=)
c.1308G= (p.Leu436=)
c.660G= (p.Leu220=)
c.969G= (p.Leu323=)
c.333G= (p.Leu111=)
3g.10375445C>GCA351784182ATP2B2c.1266G>C (p.Leu422Phe)
c.1368G>C (p.Leu456Phe)
c.1401G>C (p.Leu467Phe)
c.1308G>C (p.Leu436Phe)
c.660G>C (p.Leu220Phe)
c.969G>C (p.Leu323Phe)
c.333G>C (p.Leu111Phe)
3g.10375445C>TCA2253682ATP2B2c.1266G>A (p.Leu422=)
c.1368G>A (p.Leu456=)
c.1401G>A (p.Leu467=)
c.1308G>A (p.Leu436=)
c.660G>A (p.Leu220=)
c.969G>A (p.Leu323=)
c.333G>A (p.Leu111=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375446A>CCA351784184ATP2B2c.1265T>G (p.Leu422Trp)
c.1367T>G (p.Leu456Trp)
c.1400T>G (p.Leu467Trp)
c.1307T>G (p.Leu436Trp)
c.659T>G (p.Leu220Trp)
c.968T>G (p.Leu323Trp)
c.332T>G (p.Leu111Trp)
3g.10375446A>GCA351784185ATP2B2c.1265T>C (p.Leu422Ser)
c.1367T>C (p.Leu456Ser)
c.1400T>C (p.Leu467Ser)
c.1307T>C (p.Leu436Ser)
c.659T>C (p.Leu220Ser)
c.968T>C (p.Leu323Ser)
c.332T>C (p.Leu111Ser)
3g.10375446A>TCA351784186ATP2B2c.1265T>A (p.Leu422Ter)
c.1367T>A (p.Leu456Ter)
c.1400T>A (p.Leu467Ter)
c.1307T>A (p.Leu436Ter)
c.659T>A (p.Leu220Ter)
c.968T>A (p.Leu323Ter)
c.332T>A (p.Leu111Ter)
3g.10375447A>CCA351784187ATP2B2c.1264T>G (p.Leu422Val)
c.1366T>G (p.Leu456Val)
c.1399T>G (p.Leu467Val)
c.1306T>G (p.Leu436Val)
c.658T>G (p.Leu220Val)
c.967T>G (p.Leu323Val)
c.331T>G (p.Leu111Val)
3g.10375447A>GCA432440965ATP2B2c.1264T>C (p.Leu422=)
c.1366T>C (p.Leu456=)
c.1399T>C (p.Leu467=)
c.1306T>C (p.Leu436=)
c.658T>C (p.Leu220=)
c.967T>C (p.Leu323=)
c.331T>C (p.Leu111=)
3g.10375447A>TCA351784188ATP2B2c.1264T>A (p.Leu422Met)
c.1366T>A (p.Leu456Met)
c.1399T>A (p.Leu467Met)
c.1306T>A (p.Leu436Met)
c.658T>A (p.Leu220Met)
c.967T>A (p.Leu323Met)
c.331T>A (p.Leu111Met)
3g.10375448C>ACA432440968ATP2B2c.1263G>T (p.Ser421=)
c.1365G>T (p.Ser455=)
c.1398G>T (p.Ser466=)
c.1305G>T (p.Ser435=)
c.657G>T (p.Ser219=)
c.966G>T (p.Ser322=)
c.330G>T (p.Ser110=)
3g.10375448C=CA1345182313ATP2B2c.1263G= (p.Ser421=)
c.1365G= (p.Ser455=)
c.1398G= (p.Ser466=)
c.1305G= (p.Ser435=)
c.657G= (p.Ser219=)
c.966G= (p.Ser322=)
c.330G= (p.Ser110=)
3g.10375448C>GCA432440970ATP2B2c.1263G>C (p.Ser421=)
c.1365G>C (p.Ser455=)
c.1398G>C (p.Ser466=)
c.1305G>C (p.Ser435=)
c.657G>C (p.Ser219=)
c.966G>C (p.Ser322=)
c.330G>C (p.Ser110=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375448C>TCA2253683ATP2B2c.1263G>A (p.Ser421=)
c.1365G>A (p.Ser455=)
c.1398G>A (p.Ser466=)
c.1305G>A (p.Ser435=)
c.657G>A (p.Ser219=)
c.966G>A (p.Ser322=)
c.330G>A (p.Ser110=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375449G>ACA351784192ATP2B2c.1262C>T (p.Ser421Leu)
c.1364C>T (p.Ser455Leu)
c.1397C>T (p.Ser466Leu)
c.1304C>T (p.Ser435Leu)
c.656C>T (p.Ser219Leu)
c.965C>T (p.Ser322Leu)
c.329C>T (p.Ser110Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.10375449G>CCA351784191ATP2B2c.1262C>G (p.Ser421Trp)
c.1364C>G (p.Ser455Trp)
c.1397C>G (p.Ser466Trp)
c.1304C>G (p.Ser435Trp)
c.656C>G (p.Ser219Trp)
c.965C>G (p.Ser322Trp)
c.329C>G (p.Ser110Trp)
3g.10375449G=CA1345182315ATP2B2c.1262C= (p.Ser421=)
c.1364C= (p.Ser455=)
c.1397C= (p.Ser466=)
c.1304C= (p.Ser435=)
c.656C= (p.Ser219=)
c.965C= (p.Ser322=)
c.329C= (p.Ser110=)
3g.10375449G>TCA351784190ATP2B2c.1262C>A (p.Ser421Ter)
c.1364C>A (p.Ser455Ter)
c.1397C>A (p.Ser466Ter)
c.1304C>A (p.Ser435Ter)
c.656C>A (p.Ser219Ter)
c.965C>A (p.Ser322Ter)
c.329C>A (p.Ser110Ter)
3g.10375450A>CCA351784195ATP2B2c.1261T>G (p.Ser421Ala)
c.1363T>G (p.Ser455Ala)
c.1396T>G (p.Ser466Ala)
c.1303T>G (p.Ser435Ala)
c.655T>G (p.Ser219Ala)
c.964T>G (p.Ser322Ala)
c.328T>G (p.Ser110Ala)
3g.10375450A>GCA351784196ATP2B2c.1261T>C (p.Ser421Pro)
c.1363T>C (p.Ser455Pro)
c.1396T>C (p.Ser466Pro)
c.1303T>C (p.Ser435Pro)
c.655T>C (p.Ser219Pro)
c.964T>C (p.Ser322Pro)
c.328T>C (p.Ser110Pro)
3g.10375450A>TCA351784197ATP2B2c.1261T>A (p.Ser421Thr)
c.1363T>A (p.Ser455Thr)
c.1396T>A (p.Ser466Thr)
c.1303T>A (p.Ser435Thr)
c.655T>A (p.Ser219Thr)
c.964T>A (p.Ser322Thr)
c.328T>A (p.Ser110Thr)
3g.10375451G>ACA432440979ATP2B2c.1260C>T (p.Ile420=)
c.1362C>T (p.Ile454=)
c.1395C>T (p.Ile465=)
c.1302C>T (p.Ile434=)
c.654C>T (p.Ile218=)
c.963C>T (p.Ile321=)
c.327C>T (p.Ile109=)
3g.10375451G>CCA351784199ATP2B2c.1260C>G (p.Ile420Met)
c.1362C>G (p.Ile454Met)
c.1395C>G (p.Ile465Met)
c.1302C>G (p.Ile434Met)
c.654C>G (p.Ile218Met)
c.963C>G (p.Ile321Met)
c.327C>G (p.Ile109Met)
3g.10375451G>TCA432440981ATP2B2c.1260C>A (p.Ile420=)
c.1362C>A (p.Ile454=)
c.1395C>A (p.Ile465=)
c.1302C>A (p.Ile434=)
c.654C>A (p.Ile218=)
c.963C>A (p.Ile321=)
c.327C>A (p.Ile109=)
3g.10375452A>CCA351784201ATP2B2c.1259T>G (p.Ile420Ser)
c.1361T>G (p.Ile454Ser)
c.1394T>G (p.Ile465Ser)
c.1301T>G (p.Ile434Ser)
c.653T>G (p.Ile218Ser)
c.962T>G (p.Ile321Ser)
c.326T>G (p.Ile109Ser)
3g.10375452A>GCA351784203ATP2B2c.1259T>C (p.Ile420Thr)
c.1361T>C (p.Ile454Thr)
c.1394T>C (p.Ile465Thr)
c.1301T>C (p.Ile434Thr)
c.653T>C (p.Ile218Thr)
c.962T>C (p.Ile321Thr)
c.326T>C (p.Ile109Thr)
3g.10375452A>TCA351784204ATP2B2c.1259T>A (p.Ile420Asn)
c.1361T>A (p.Ile454Asn)
c.1394T>A (p.Ile465Asn)
c.1301T>A (p.Ile434Asn)
c.653T>A (p.Ile218Asn)
c.962T>A (p.Ile321Asn)
c.326T>A (p.Ile109Asn)
3g.10375453T>ACA351784207ATP2B2c.1258A>T (p.Ile420Phe)
c.1360A>T (p.Ile454Phe)
c.1393A>T (p.Ile465Phe)
c.1300A>T (p.Ile434Phe)
c.652A>T (p.Ile218Phe)
c.961A>T (p.Ile321Phe)
c.325A>T (p.Ile109Phe)
3g.10375453T>CCA351784210ATP2B2c.1258A>G (p.Ile420Val)
c.1360A>G (p.Ile454Val)
c.1393A>G (p.Ile465Val)
c.1300A>G (p.Ile434Val)
c.652A>G (p.Ile218Val)
c.961A>G (p.Ile321Val)
c.325A>G (p.Ile109Val)
 dbSNP
3g.10375453T>GCA351784208ATP2B2c.1258A>C (p.Ile420Leu)
c.1360A>C (p.Ile454Leu)
c.1393A>C (p.Ile465Leu)
c.1300A>C (p.Ile434Leu)
c.652A>C (p.Ile218Leu)
c.961A>C (p.Ile321Leu)
c.325A>C (p.Ile109Leu)
3g.10375453T=CA1345182318ATP2B2c.1258A= (p.Ile420=)
c.1360A= (p.Ile454=)
c.1393A= (p.Ile465=)
c.1300A= (p.Ile434=)
c.652A= (p.Ile218=)
c.961A= (p.Ile321=)
c.325A= (p.Ile109=)
3g.10375454G>ACA432440990ATP2B2c.1257C>T (p.Thr419=)
c.1359C>T (p.Thr453=)
c.1392C>T (p.Thr464=)
c.1299C>T (p.Thr433=)
c.651C>T (p.Thr217=)
c.960C>T (p.Thr320=)
c.324C>T (p.Thr108=)
3g.10375454G>CCA432440992ATP2B2c.1257C>G (p.Thr419=)
c.1359C>G (p.Thr453=)
c.1392C>G (p.Thr464=)
c.1299C>G (p.Thr433=)
c.651C>G (p.Thr217=)
c.960C>G (p.Thr320=)
c.324C>G (p.Thr108=)
3g.10375454G=CA1345182322ATP2B2c.1257C= (p.Thr419=)
c.1359C= (p.Thr453=)
c.1392C= (p.Thr464=)
c.1299C= (p.Thr433=)
c.651C= (p.Thr217=)
c.960C= (p.Thr320=)
c.324C= (p.Thr108=)
3g.10375454G>TCA432440993ATP2B2c.1257C>A (p.Thr419=)
c.1359C>A (p.Thr453=)
c.1392C>A (p.Thr464=)
c.1299C>A (p.Thr433=)
c.651C>A (p.Thr217=)
c.960C>A (p.Thr320=)
c.324C>A (p.Thr108=)
 dbSNP gnomAD v2
3g.10375455G>ACA351784211ATP2B2c.1256C>T (p.Thr419Ile)
c.1358C>T (p.Thr453Ile)
c.1391C>T (p.Thr464Ile)
c.1298C>T (p.Thr433Ile)
c.650C>T (p.Thr217Ile)
c.959C>T (p.Thr320Ile)
c.323C>T (p.Thr108Ile)
 gnomAD v4
3g.10375455G>CCA351784213ATP2B2c.1256C>G (p.Thr419Ser)
c.1358C>G (p.Thr453Ser)
c.1391C>G (p.Thr464Ser)
c.1298C>G (p.Thr433Ser)
c.650C>G (p.Thr217Ser)
c.959C>G (p.Thr320Ser)
c.323C>G (p.Thr108Ser)
3g.10375455G>TCA351784215ATP2B2c.1256C>A (p.Thr419Asn)
c.1358C>A (p.Thr453Asn)
c.1391C>A (p.Thr464Asn)
c.1298C>A (p.Thr433Asn)
c.650C>A (p.Thr217Asn)
c.959C>A (p.Thr320Asn)
c.323C>A (p.Thr108Asn)
3g.10375456T>ACA351784217ATP2B2c.1255A>T (p.Thr419Ser)
c.1357A>T (p.Thr453Ser)
c.1390A>T (p.Thr464Ser)
c.1297A>T (p.Thr433Ser)
c.649A>T (p.Thr217Ser)
c.958A>T (p.Thr320Ser)
c.322A>T (p.Thr108Ser)
3g.10375456T>CCA351784218ATP2B2c.1255A>G (p.Thr419Ala)
c.1357A>G (p.Thr453Ala)
c.1390A>G (p.Thr464Ala)
c.1297A>G (p.Thr433Ala)
c.649A>G (p.Thr217Ala)
c.958A>G (p.Thr320Ala)
c.322A>G (p.Thr108Ala)
3g.10375456T>GCA351784219ATP2B2c.1255A>C (p.Thr419Pro)
c.1357A>C (p.Thr453Pro)
c.1390A>C (p.Thr464Pro)
c.1297A>C (p.Thr433Pro)
c.649A>C (p.Thr217Pro)
c.958A>C (p.Thr320Pro)
c.322A>C (p.Thr108Pro)
 dbSNP
3g.10375456T=CA1345182326ATP2B2c.1255A= (p.Thr419=)
c.1357A= (p.Thr453=)
c.1390A= (p.Thr464=)
c.1297A= (p.Thr433=)
c.649A= (p.Thr217=)
c.958A= (p.Thr320=)
c.322A= (p.Thr108=)
3g.10375457G>ACA432441000ATP2B2c.1254C>T (p.Val418=)
c.1356C>T (p.Val452=)
c.1389C>T (p.Val463=)
c.1296C>T (p.Val432=)
c.648C>T (p.Val216=)
c.957C>T (p.Val319=)
c.321C>T (p.Val107=)
3g.10375457G>CCA432441002ATP2B2c.1254C>G (p.Val418=)
c.1356C>G (p.Val452=)
c.1389C>G (p.Val463=)
c.1296C>G (p.Val432=)
c.648C>G (p.Val216=)
c.957C>G (p.Val319=)
c.321C>G (p.Val107=)
3g.10375457G>TCA432441004ATP2B2c.1254C>A (p.Val418=)
c.1356C>A (p.Val452=)
c.1389C>A (p.Val463=)
c.1296C>A (p.Val432=)
c.648C>A (p.Val216=)
c.957C>A (p.Val319=)
c.321C>A (p.Val107=)
3g.10375458A=CA1345182331ATP2B2c.1253T= (p.Val418=)
c.1355T= (p.Val452=)
c.1388T= (p.Val463=)
c.1295T= (p.Val432=)
c.647T= (p.Val216=)
c.956T= (p.Val319=)
c.320T= (p.Val107=)
3g.10375458A>CCA351784220ATP2B2c.1253T>G (p.Val418Gly)
c.1355T>G (p.Val452Gly)
c.1388T>G (p.Val463Gly)
c.1295T>G (p.Val432Gly)
c.647T>G (p.Val216Gly)
c.956T>G (p.Val319Gly)
c.320T>G (p.Val107Gly)
3g.10375458A>GCA2253684ATP2B2c.1253T>C (p.Val418Ala)
c.1355T>C (p.Val452Ala)
c.1388T>C (p.Val463Ala)
c.1295T>C (p.Val432Ala)
c.647T>C (p.Val216Ala)
c.956T>C (p.Val319Ala)
c.320T>C (p.Val107Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375458A>TCA351784223ATP2B2c.1253T>A (p.Val418Asp)
c.1355T>A (p.Val452Asp)
c.1388T>A (p.Val463Asp)
c.1295T>A (p.Val432Asp)
c.647T>A (p.Val216Asp)
c.956T>A (p.Val319Asp)
c.320T>A (p.Val107Asp)
3g.10375459C>ACA351784224ATP2B2c.1252G>T (p.Val418Phe)
c.1354G>T (p.Val452Phe)
c.1387G>T (p.Val463Phe)
c.1294G>T (p.Val432Phe)
c.646G>T (p.Val216Phe)
c.955G>T (p.Val319Phe)
c.319G>T (p.Val107Phe)
3g.10375459C=CA1345182336ATP2B2c.1252G= (p.Val418=)
c.1354G= (p.Val452=)
c.1387G= (p.Val463=)
c.1294G= (p.Val432=)
c.646G= (p.Val216=)
c.955G= (p.Val319=)
c.319G= (p.Val107=)
3g.10375459C>GCA351784225ATP2B2c.1252G>C (p.Val418Leu)
c.1354G>C (p.Val452Leu)
c.1387G>C (p.Val463Leu)
c.1294G>C (p.Val432Leu)
c.646G>C (p.Val216Leu)
c.955G>C (p.Val319Leu)
c.319G>C (p.Val107Leu)
3g.10375459C>TCA2253685ATP2B2c.1252G>A (p.Val418Ile)
c.1354G>A (p.Val452Ile)
c.1387G>A (p.Val463Ile)
c.1294G>A (p.Val432Ile)
c.646G>A (p.Val216Ile)
c.955G>A (p.Val319Ile)
c.319G>A (p.Val107Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.10375460G>ACA432441011ATP2B2c.1251C>T (p.Ala417=)
c.1353C>T (p.Ala451=)
c.1386C>T (p.Ala462=)
c.1293C>T (p.Ala431=)
c.645C>T (p.Ala215=)
c.954C>T (p.Ala318=)
c.318C>T (p.Ala106=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375460G>CCA432441013ATP2B2c.1251C>G (p.Ala417=)
c.1353C>G (p.Ala451=)
c.1386C>G (p.Ala462=)
c.1293C>G (p.Ala431=)
c.645C>G (p.Ala215=)
c.954C>G (p.Ala318=)
c.318C>G (p.Ala106=)
3g.10375460G=CA1345182339ATP2B2c.1251C= (p.Ala417=)
c.1353C= (p.Ala451=)
c.1386C= (p.Ala462=)
c.1293C= (p.Ala431=)
c.645C= (p.Ala215=)
c.954C= (p.Ala318=)
c.318C= (p.Ala106=)
3g.10375460G>TCA432441014ATP2B2c.1251C>A (p.Ala417=)
c.1353C>A (p.Ala451=)
c.1386C>A (p.Ala462=)
c.1293C>A (p.Ala431=)
c.645C>A (p.Ala215=)
c.954C>A (p.Ala318=)
c.318C>A (p.Ala106=)
3g.10375461G>ACA351784227ATP2B2c.1250C>T (p.Ala417Val)
c.1352C>T (p.Ala451Val)
c.1385C>T (p.Ala462Val)
c.1292C>T (p.Ala431Val)
c.644C>T (p.Ala215Val)
c.953C>T (p.Ala318Val)
c.317C>T (p.Ala106Val)
 COSMIC COSMIC
3g.10375461G>CCA351784230ATP2B2c.1250C>G (p.Ala417Gly)
c.1352C>G (p.Ala451Gly)
c.1385C>G (p.Ala462Gly)
c.1292C>G (p.Ala431Gly)
c.644C>G (p.Ala215Gly)
c.953C>G (p.Ala318Gly)
c.317C>G (p.Ala106Gly)
3g.10375461G>TCA351784229ATP2B2c.1250C>A (p.Ala417Asp)
c.1352C>A (p.Ala451Asp)
c.1385C>A (p.Ala462Asp)
c.1292C>A (p.Ala431Asp)
c.644C>A (p.Ala215Asp)
c.953C>A (p.Ala318Asp)
c.317C>A (p.Ala106Asp)
3g.10375462C>ACA351784231ATP2B2c.1249G>T (p.Ala417Ser)
c.1351G>T (p.Ala451Ser)
c.1384G>T (p.Ala462Ser)
c.1291G>T (p.Ala431Ser)
c.643G>T (p.Ala215Ser)
c.952G>T (p.Ala318Ser)
c.316G>T (p.Ala106Ser)
3g.10375462C>GCA351784232ATP2B2c.1249G>C (p.Ala417Pro)
c.1351G>C (p.Ala451Pro)
c.1384G>C (p.Ala462Pro)
c.1291G>C (p.Ala431Pro)
c.643G>C (p.Ala215Pro)
c.952G>C (p.Ala318Pro)
c.316G>C (p.Ala106Pro)
3g.10375462C>TCA351784234ATP2B2c.1249G>A (p.Ala417Thr)
c.1351G>A (p.Ala451Thr)
c.1384G>A (p.Ala462Thr)
c.1291G>A (p.Ala431Thr)
c.643G>A (p.Ala215Thr)
c.952G>A (p.Ala318Thr)
c.316G>A (p.Ala106Thr)
3g.10375463C>ACA432441021ATP2B2c.1248G>T (p.Leu416=)
c.1350G>T (p.Leu450=)
c.1383G>T (p.Leu461=)
c.1290G>T (p.Leu430=)
c.642G>T (p.Leu214=)
c.951G>T (p.Leu317=)
c.315G>T (p.Leu105=)
3g.10375463C>GCA432441023ATP2B2c.1248G>C (p.Leu416=)
c.1350G>C (p.Leu450=)
c.1383G>C (p.Leu461=)
c.1290G>C (p.Leu430=)
c.642G>C (p.Leu214=)
c.951G>C (p.Leu317=)
c.315G>C (p.Leu105=)
3g.10375463C>TCA432441025ATP2B2c.1248G>A (p.Leu416=)
c.1350G>A (p.Leu450=)
c.1383G>A (p.Leu461=)
c.1290G>A (p.Leu430=)
c.642G>A (p.Leu214=)
c.951G>A (p.Leu317=)
c.315G>A (p.Leu105=)
3g.10375464A>CCA351784236ATP2B2c.1247T>G (p.Leu416Arg)
c.1349T>G (p.Leu450Arg)
c.1382T>G (p.Leu461Arg)
c.1289T>G (p.Leu430Arg)
c.641T>G (p.Leu214Arg)
c.950T>G (p.Leu317Arg)
c.314T>G (p.Leu105Arg)
3g.10375464A>GCA351784237ATP2B2c.1247T>C (p.Leu416Pro)
c.1349T>C (p.Leu450Pro)
c.1382T>C (p.Leu461Pro)
c.1289T>C (p.Leu430Pro)
c.641T>C (p.Leu214Pro)
c.950T>C (p.Leu317Pro)
c.314T>C (p.Leu105Pro)
3g.10375464A>TCA351784239ATP2B2c.1247T>A (p.Leu416Gln)
c.1349T>A (p.Leu450Gln)
c.1382T>A (p.Leu461Gln)
c.1289T>A (p.Leu430Gln)
c.641T>A (p.Leu214Gln)
c.950T>A (p.Leu317Gln)
c.314T>A (p.Leu105Gln)
3g.10375465G>ACA432441029ATP2B2c.1246C>T (p.Leu416=)
c.1348C>T (p.Leu450=)
c.1381C>T (p.Leu461=)
c.1288C>T (p.Leu430=)
c.640C>T (p.Leu214=)
c.949C>T (p.Leu317=)
c.313C>T (p.Leu105=)
3g.10375465G>CCA351784243ATP2B2c.1246C>G (p.Leu416Val)
c.1348C>G (p.Leu450Val)
c.1381C>G (p.Leu461Val)
c.1288C>G (p.Leu430Val)
c.640C>G (p.Leu214Val)
c.949C>G (p.Leu317Val)
c.313C>G (p.Leu105Val)
3g.10375465G>TCA351784241ATP2B2c.1246C>A (p.Leu416Met)
c.1348C>A (p.Leu450Met)
c.1381C>A (p.Leu461Met)
c.1288C>A (p.Leu430Met)
c.640C>A (p.Leu214Met)
c.949C>A (p.Leu317Met)
c.313C>A (p.Leu105Met)
3g.10375466A>CCA432441033ATP2B2c.1245T>G (p.Pro415=)
c.1347T>G (p.Pro449=)
c.1380T>G (p.Pro460=)
c.1287T>G (p.Pro429=)
c.639T>G (p.Pro213=)
c.948T>G (p.Pro316=)
c.312T>G (p.Pro104=)
3g.10375466A>GCA432441035ATP2B2c.1245T>C (p.Pro415=)
c.1347T>C (p.Pro449=)
c.1380T>C (p.Pro460=)
c.1287T>C (p.Pro429=)
c.639T>C (p.Pro213=)
c.948T>C (p.Pro316=)
c.312T>C (p.Pro104=)
3g.10375466A>TCA432441036ATP2B2c.1245T>A (p.Pro415=)
c.1347T>A (p.Pro449=)
c.1380T>A (p.Pro460=)
c.1287T>A (p.Pro429=)
c.639T>A (p.Pro213=)
c.948T>A (p.Pro316=)
c.312T>A (p.Pro104=)
3g.10375467G>ACA351784244ATP2B2c.1244C>T (p.Pro415Leu)
c.1346C>T (p.Pro449Leu)
c.1379C>T (p.Pro460Leu)
c.1286C>T (p.Pro429Leu)
c.638C>T (p.Pro213Leu)
c.947C>T (p.Pro316Leu)
c.311C>T (p.Pro104Leu)
3g.10375467G>CCA351784246ATP2B2c.1244C>G (p.Pro415Arg)
c.1346C>G (p.Pro449Arg)
c.1379C>G (p.Pro460Arg)
c.1286C>G (p.Pro429Arg)
c.638C>G (p.Pro213Arg)
c.947C>G (p.Pro316Arg)
c.311C>G (p.Pro104Arg)
3g.10375467G>TCA351784247ATP2B2c.1244C>A (p.Pro415His)
c.1346C>A (p.Pro449His)
c.1379C>A (p.Pro460His)
c.1286C>A (p.Pro429His)
c.638C>A (p.Pro213His)
c.947C>A (p.Pro316His)
c.311C>A (p.Pro104His)
3g.10375468G>ACA351784249ATP2B2c.1243C>T (p.Pro415Ser)
c.1345C>T (p.Pro449Ser)
c.1378C>T (p.Pro460Ser)
c.1285C>T (p.Pro429Ser)
c.637C>T (p.Pro213Ser)
c.946C>T (p.Pro316Ser)
c.310C>T (p.Pro104Ser)
3g.10375468G>CCA351784251ATP2B2c.1243C>G (p.Pro415Ala)
c.1345C>G (p.Pro449Ala)
c.1378C>G (p.Pro460Ala)
c.1285C>G (p.Pro429Ala)
c.637C>G (p.Pro213Ala)
c.946C>G (p.Pro316Ala)
c.310C>G (p.Pro104Ala)
3g.10375468G>TCA351784252ATP2B2c.1243C>A (p.Pro415Thr)
c.1345C>A (p.Pro449Thr)
c.1378C>A (p.Pro460Thr)
c.1285C>A (p.Pro429Thr)
c.637C>A (p.Pro213Thr)
c.946C>A (p.Pro316Thr)
c.310C>A (p.Pro104Thr)
3g.10375469G>ACA432441043ATP2B2c.1242C>T (p.Leu414=)
c.1344C>T (p.Leu448=)
c.1377C>T (p.Leu459=)
c.1284C>T (p.Leu428=)
c.636C>T (p.Leu212=)
c.945C>T (p.Leu315=)
c.309C>T (p.Leu103=)
 dbSNP gnomAD v4
3g.10375469G>CCA432441045ATP2B2c.1242C>G (p.Leu414=)
c.1344C>G (p.Leu448=)
c.1377C>G (p.Leu459=)
c.1284C>G (p.Leu428=)
c.636C>G (p.Leu212=)
c.945C>G (p.Leu315=)
c.309C>G (p.Leu103=)
3g.10375469G=CA1345182343ATP2B2c.1242C= (p.Leu414=)
c.1344C= (p.Leu448=)
c.1377C= (p.Leu459=)
c.1284C= (p.Leu428=)
c.636C= (p.Leu212=)
c.945C= (p.Leu315=)
c.309C= (p.Leu103=)
3g.10375469G>TCA432441047ATP2B2c.1242C>A (p.Leu414=)
c.1344C>A (p.Leu448=)
c.1377C>A (p.Leu459=)
c.1284C>A (p.Leu428=)
c.636C>A (p.Leu212=)
c.945C>A (p.Leu315=)
c.309C>A (p.Leu103=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375470A>CCA351784254ATP2B2c.1241T>G (p.Leu414Arg)
c.1343T>G (p.Leu448Arg)
c.1376T>G (p.Leu459Arg)
c.1283T>G (p.Leu428Arg)
c.635T>G (p.Leu212Arg)
c.944T>G (p.Leu315Arg)
c.308T>G (p.Leu103Arg)
3g.10375470A>GCA351784257ATP2B2c.1241T>C (p.Leu414Pro)
c.1343T>C (p.Leu448Pro)
c.1376T>C (p.Leu459Pro)
c.1283T>C (p.Leu428Pro)
c.635T>C (p.Leu212Pro)
c.944T>C (p.Leu315Pro)
c.308T>C (p.Leu103Pro)
3g.10375470A>TCA351784256ATP2B2c.1241T>A (p.Leu414His)
c.1343T>A (p.Leu448His)
c.1376T>A (p.Leu459His)
c.1283T>A (p.Leu428His)
c.635T>A (p.Leu212His)
c.944T>A (p.Leu315His)
c.308T>A (p.Leu103His)
3g.10375471G>ACA351784258ATP2B2c.1240C>T (p.Leu414Phe)
c.1342C>T (p.Leu448Phe)
c.1375C>T (p.Leu459Phe)
c.1282C>T (p.Leu428Phe)
c.634C>T (p.Leu212Phe)
c.943C>T (p.Leu315Phe)
c.307C>T (p.Leu103Phe)
3g.10375471G>CCA351784259ATP2B2c.1240C>G (p.Leu414Val)
c.1342C>G (p.Leu448Val)
c.1375C>G (p.Leu459Val)
c.1282C>G (p.Leu428Val)
c.634C>G (p.Leu212Val)
c.943C>G (p.Leu315Val)
c.307C>G (p.Leu103Val)
3g.10375471G>TCA351784261ATP2B2c.1240C>A (p.Leu414Ile)
c.1342C>A (p.Leu448Ile)
c.1375C>A (p.Leu459Ile)
c.1282C>A (p.Leu428Ile)
c.634C>A (p.Leu212Ile)
c.943C>A (p.Leu315Ile)
c.307C>A (p.Leu103Ile)
3g.10375472C>ACA432441056ATP2B2c.1239G>T (p.Gly413=)
c.1341G>T (p.Gly447=)
c.1374G>T (p.Gly458=)
c.1281G>T (p.Gly427=)
c.633G>T (p.Gly211=)
c.942G>T (p.Gly314=)
c.306G>T (p.Gly102=)
3g.10375472C=CA1345182345ATP2B2c.1239G= (p.Gly413=)
c.1341G= (p.Gly447=)
c.1374G= (p.Gly458=)
c.1281G= (p.Gly427=)
c.633G= (p.Gly211=)
c.942G= (p.Gly314=)
c.306G= (p.Gly102=)
3g.10375472C>GCA432441054ATP2B2c.1239G>C (p.Gly413=)
c.1341G>C (p.Gly447=)
c.1374G>C (p.Gly458=)
c.1281G>C (p.Gly427=)
c.633G>C (p.Gly211=)
c.942G>C (p.Gly314=)
c.306G>C (p.Gly102=)
 dbSNP gnomAD v2
3g.10375472C>TCA432441052ATP2B2c.1239G>A (p.Gly413=)
c.1341G>A (p.Gly447=)
c.1374G>A (p.Gly458=)
c.1281G>A (p.Gly427=)
c.633G>A (p.Gly211=)
c.942G>A (p.Gly314=)
c.306G>A (p.Gly102=)
3g.10375473C>ACA351784263ATP2B2c.1238G>T (p.Gly413Val)
c.1340G>T (p.Gly447Val)
c.1373G>T (p.Gly458Val)
c.1280G>T (p.Gly427Val)
c.632G>T (p.Gly211Val)
c.941G>T (p.Gly314Val)
c.305G>T (p.Gly102Val)
 gnomAD v4
3g.10375473C>GCA351784265ATP2B2c.1238G>C (p.Gly413Ala)
c.1340G>C (p.Gly447Ala)
c.1373G>C (p.Gly458Ala)
c.1280G>C (p.Gly427Ala)
c.632G>C (p.Gly211Ala)
c.941G>C (p.Gly314Ala)
c.305G>C (p.Gly102Ala)
3g.10375473C>TCA351784266ATP2B2c.1238G>A (p.Gly413Glu)
c.1340G>A (p.Gly447Glu)
c.1373G>A (p.Gly458Glu)
c.1280G>A (p.Gly427Glu)
c.632G>A (p.Gly211Glu)
c.941G>A (p.Gly314Glu)
c.305G>A (p.Gly102Glu)
 gnomAD v4 COSMIC COSMIC
3g.10375474C>ACA351784268ATP2B2c.1237G>T (p.Gly413Trp)
c.1339G>T (p.Gly447Trp)
c.1372G>T (p.Gly458Trp)
c.1279G>T (p.Gly427Trp)
c.631G>T (p.Gly211Trp)
c.940G>T (p.Gly314Trp)
c.304G>T (p.Gly102Trp)
3g.10375474C>GCA351784270ATP2B2c.1237G>C (p.Gly413Arg)
c.1339G>C (p.Gly447Arg)
c.1372G>C (p.Gly458Arg)
c.1279G>C (p.Gly427Arg)
c.631G>C (p.Gly211Arg)
c.940G>C (p.Gly314Arg)
c.304G>C (p.Gly102Arg)
3g.10375474C>TCA351784272ATP2B2c.1237G>A (p.Gly413Arg)
c.1339G>A (p.Gly447Arg)
c.1372G>A (p.Gly458Arg)
c.1279G>A (p.Gly427Arg)
c.631G>A (p.Gly211Arg)
c.940G>A (p.Gly314Arg)
c.304G>A (p.Gly102Arg)
3g.10375475C>ACA351784273ATP2B2c.1236G>T (p.Glu412Asp)
c.1338G>T (p.Glu446Asp)
c.1371G>T (p.Glu457Asp)
c.1278G>T (p.Glu426Asp)
c.630G>T (p.Glu210Asp)
c.939G>T (p.Glu313Asp)
c.303G>T (p.Glu101Asp)
3g.10375475C>GCA351784275ATP2B2c.1236G>C (p.Glu412Asp)
c.1338G>C (p.Glu446Asp)
c.1371G>C (p.Glu457Asp)
c.1278G>C (p.Glu426Asp)
c.630G>C (p.Glu210Asp)
c.939G>C (p.Glu313Asp)
c.303G>C (p.Glu101Asp)
3g.10375475C>TCA432441062ATP2B2c.1236G>A (p.Glu412=)
c.1338G>A (p.Glu446=)
c.1371G>A (p.Glu457=)
c.1278G>A (p.Glu426=)
c.630G>A (p.Glu210=)
c.939G>A (p.Glu313=)
c.303G>A (p.Glu101=)
 gnomAD v4
3g.10375476T>ACA351784277ATP2B2c.1235A>T (p.Glu412Val)
c.1337A>T (p.Glu446Val)
c.1370A>T (p.Glu457Val)
c.1277A>T (p.Glu426Val)
c.629A>T (p.Glu210Val)
c.938A>T (p.Glu313Val)
c.302A>T (p.Glu101Val)
3g.10375476T>CCA351784280ATP2B2c.1235A>G (p.Glu412Gly)
c.1337A>G (p.Glu446Gly)
c.1370A>G (p.Glu457Gly)
c.1277A>G (p.Glu426Gly)
c.629A>G (p.Glu210Gly)
c.938A>G (p.Glu313Gly)
c.302A>G (p.Glu101Gly)
3g.10375476T>GCA351784278ATP2B2c.1235A>C (p.Glu412Ala)
c.1337A>C (p.Glu446Ala)
c.1370A>C (p.Glu457Ala)
c.1277A>C (p.Glu426Ala)
c.629A>C (p.Glu210Ala)
c.938A>C (p.Glu313Ala)
c.302A>C (p.Glu101Ala)
3g.10375477C>ACA351784282ATP2B2c.1234G>T (p.Glu412Ter)
c.1336G>T (p.Glu446Ter)
c.1369G>T (p.Glu457Ter)
c.1276G>T (p.Glu426Ter)
c.628G>T (p.Glu210Ter)
c.937G>T (p.Glu313Ter)
c.301G>T (p.Glu101Ter)
3g.10375477C=CA1345182353ATP2B2c.1234G= (p.Glu412=)
c.1336G= (p.Glu446=)
c.1369G= (p.Glu457=)
c.1276G= (p.Glu426=)
c.628G= (p.Glu210=)
c.937G= (p.Glu313=)
c.301G= (p.Glu101=)
3g.10375477C>GCA351784284ATP2B2c.1234G>C (p.Glu412Gln)
c.1336G>C (p.Glu446Gln)
c.1369G>C (p.Glu457Gln)
c.1276G>C (p.Glu426Gln)
c.628G>C (p.Glu210Gln)
c.937G>C (p.Glu313Gln)
c.301G>C (p.Glu101Gln)
 COSMIC COSMIC
3g.10375477C>TCA16617794ATP2B2c.1234G>A (p.Glu412Lys)
c.1336G>A (p.Glu446Lys)
c.1369G>A (p.Glu457Lys)
c.1276G>A (p.Glu426Lys)
c.628G>A (p.Glu210Lys)
c.937G>A (p.Glu313Lys)
c.301G>A (p.Glu101Lys)
 ClinVar dbSNP
3g.10375478G>ACA432441068ATP2B2c.1233C>T (p.Pro411=)
c.1335C>T (p.Pro445=)
c.1368C>T (p.Pro456=)
c.1275C>T (p.Pro425=)
c.627C>T (p.Pro209=)
c.936C>T (p.Pro312=)
c.300C>T (p.Pro100=)
 ClinVar gnomAD v4
3g.10375478G>CCA2253687ATP2B2c.1233C>G (p.Pro411=)
c.1335C>G (p.Pro445=)
c.1368C>G (p.Pro456=)
c.1275C>G (p.Pro425=)
c.627C>G (p.Pro209=)
c.936C>G (p.Pro312=)
c.300C>G (p.Pro100=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.10375478G=CA1345182356ATP2B2c.1233C= (p.Pro411=)
c.1335C= (p.Pro445=)
c.1368C= (p.Pro456=)
c.1275C= (p.Pro425=)
c.627C= (p.Pro209=)
c.936C= (p.Pro312=)
c.300C= (p.Pro100=)
3g.10375478G>TCA2253686ATP2B2c.1233C>A (p.Pro411=)
c.1335C>A (p.Pro445=)
c.1368C>A (p.Pro456=)
c.1275C>A (p.Pro425=)
c.627C>A (p.Pro209=)
c.936C>A (p.Pro312=)
c.300C>A (p.Pro100=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375479G>ACA351784288ATP2B2c.1232C>T (p.Pro411Leu)
c.1334C>T (p.Pro445Leu)
c.1367C>T (p.Pro456Leu)
c.1274C>T (p.Pro425Leu)
c.626C>T (p.Pro209Leu)
c.935C>T (p.Pro312Leu)
c.299C>T (p.Pro100Leu)
3g.10375479G>CCA351784289ATP2B2c.1232C>G (p.Pro411Arg)
c.1334C>G (p.Pro445Arg)
c.1367C>G (p.Pro456Arg)
c.1274C>G (p.Pro425Arg)
c.626C>G (p.Pro209Arg)
c.935C>G (p.Pro312Arg)
c.299C>G (p.Pro100Arg)
3g.10375479G>TCA351784291ATP2B2c.1232C>A (p.Pro411His)
c.1334C>A (p.Pro445His)
c.1367C>A (p.Pro456His)
c.1274C>A (p.Pro425His)
c.626C>A (p.Pro209His)
c.935C>A (p.Pro312His)
c.299C>A (p.Pro100His)
3g.10375480G>ACA351784293ATP2B2c.1231C>T (p.Pro411Ser)
c.1333C>T (p.Pro445Ser)
c.1366C>T (p.Pro456Ser)
c.1273C>T (p.Pro425Ser)
c.625C>T (p.Pro209Ser)
c.934C>T (p.Pro312Ser)
c.298C>T (p.Pro100Ser)
3g.10375480G>CCA351784295ATP2B2c.1231C>G (p.Pro411Ala)
c.1333C>G (p.Pro445Ala)
c.1366C>G (p.Pro456Ala)
c.1273C>G (p.Pro425Ala)
c.625C>G (p.Pro209Ala)
c.934C>G (p.Pro312Ala)
c.298C>G (p.Pro100Ala)
3g.10375480G>TCA351784296ATP2B2c.1231C>A (p.Pro411Thr)
c.1333C>A (p.Pro445Thr)
c.1366C>A (p.Pro456Thr)
c.1273C>A (p.Pro425Thr)
c.625C>A (p.Pro209Thr)
c.934C>A (p.Pro312Thr)
c.298C>A (p.Pro100Thr)
3g.10375481C>ACA432441077ATP2B2c.1230G>T (p.Val410=)
c.1332G>T (p.Val444=)
c.1365G>T (p.Val455=)
c.1272G>T (p.Val424=)
c.624G>T (p.Val208=)
c.933G>T (p.Val311=)
c.297G>T (p.Val99=)
3g.10375481C>GCA432441079ATP2B2c.1230G>C (p.Val410=)
c.1332G>C (p.Val444=)
c.1365G>C (p.Val455=)
c.1272G>C (p.Val424=)
c.624G>C (p.Val208=)
c.933G>C (p.Val311=)
c.297G>C (p.Val99=)
3g.10375481C>TCA432441081ATP2B2c.1230G>A (p.Val410=)
c.1332G>A (p.Val444=)
c.1365G>A (p.Val455=)
c.1272G>A (p.Val424=)
c.624G>A (p.Val208=)
c.933G>A (p.Val311=)
c.297G>A (p.Val99=)
3g.10375482A>CCA351784298ATP2B2c.1229T>G (p.Val410Gly)
c.1331T>G (p.Val444Gly)
c.1364T>G (p.Val455Gly)
c.1271T>G (p.Val424Gly)
c.623T>G (p.Val208Gly)
c.932T>G (p.Val311Gly)
c.296T>G (p.Val99Gly)
3g.10375482A>GCA351784300ATP2B2c.1229T>C (p.Val410Ala)
c.1331T>C (p.Val444Ala)
c.1364T>C (p.Val455Ala)
c.1271T>C (p.Val424Ala)
c.623T>C (p.Val208Ala)
c.932T>C (p.Val311Ala)
c.296T>C (p.Val99Ala)
3g.10375482A>TCA351784302ATP2B2c.1229T>A (p.Val410Glu)
c.1331T>A (p.Val444Glu)
c.1364T>A (p.Val455Glu)
c.1271T>A (p.Val424Glu)
c.623T>A (p.Val208Glu)
c.932T>A (p.Val311Glu)
c.296T>A (p.Val99Glu)
3g.10375483C>ACA351784307ATP2B2c.1228G>T (p.Val410Leu)
c.1330G>T (p.Val444Leu)
c.1363G>T (p.Val455Leu)
c.1270G>T (p.Val424Leu)
c.622G>T (p.Val208Leu)
c.931G>T (p.Val311Leu)
c.295G>T (p.Val99Leu)
3g.10375483C=CA1345182362ATP2B2c.1228G= (p.Val410=)
c.1330G= (p.Val444=)
c.1363G= (p.Val455=)
c.1270G= (p.Val424=)
c.622G= (p.Val208=)
c.931G= (p.Val311=)
c.295G= (p.Val99=)
3g.10375483C>GCA351784303ATP2B2c.1228G>C (p.Val410Leu)
c.1330G>C (p.Val444Leu)
c.1363G>C (p.Val455Leu)
c.1270G>C (p.Val424Leu)
c.622G>C (p.Val208Leu)
c.931G>C (p.Val311Leu)
c.295G>C (p.Val99Leu)
3g.10375483C>TCA351784305ATP2B2c.1228G>A (p.Val410Met)
c.1330G>A (p.Val444Met)
c.1363G>A (p.Val455Met)
c.1270G>A (p.Val424Met)
c.622G>A (p.Val208Met)
c.931G>A (p.Val311Met)
c.295G>A (p.Val99Met)
 dbSNP gnomAD v4
3g.10375484G>ACA2253688ATP2B2c.1227C>T (p.Ala409=)
c.1329C>T (p.Ala443=)
c.1362C>T (p.Ala454=)
c.1269C>T (p.Ala423=)
c.621C>T (p.Ala207=)
c.930C>T (p.Ala310=)
c.294C>T (p.Ala98=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375484G>CCA432441089ATP2B2c.1227C>G (p.Ala409=)
c.1329C>G (p.Ala443=)
c.1362C>G (p.Ala454=)
c.1269C>G (p.Ala423=)
c.621C>G (p.Ala207=)
c.930C>G (p.Ala310=)
c.294C>G (p.Ala98=)
 gnomAD v4
3g.10375484G=CA1345182364ATP2B2c.1227C= (p.Ala409=)
c.1329C= (p.Ala443=)
c.1362C= (p.Ala454=)
c.1269C= (p.Ala423=)
c.621C= (p.Ala207=)
c.930C= (p.Ala310=)
c.294C= (p.Ala98=)
3g.10375484G>TCA432441091ATP2B2c.1227C>A (p.Ala409=)
c.1329C>A (p.Ala443=)
c.1362C>A (p.Ala454=)
c.1269C>A (p.Ala423=)
c.621C>A (p.Ala207=)
c.930C>A (p.Ala310=)
c.294C>A (p.Ala98=)
3g.10375485G>ACA351784309ATP2B2c.1226C>T (p.Ala409Val)
c.1328C>T (p.Ala443Val)
c.1361C>T (p.Ala454Val)
c.1268C>T (p.Ala423Val)
c.620C>T (p.Ala207Val)
c.929C>T (p.Ala310Val)
c.293C>T (p.Ala98Val)
3g.10375485G>CCA351784310ATP2B2c.1226C>G (p.Ala409Gly)
c.1328C>G (p.Ala443Gly)
c.1361C>G (p.Ala454Gly)
c.1268C>G (p.Ala423Gly)
c.620C>G (p.Ala207Gly)
c.929C>G (p.Ala310Gly)
c.293C>G (p.Ala98Gly)
3g.10375485G>TCA351784312ATP2B2c.1226C>A (p.Ala409Asp)
c.1328C>A (p.Ala443Asp)
c.1361C>A (p.Ala454Asp)
c.1268C>A (p.Ala423Asp)
c.620C>A (p.Ala207Asp)
c.929C>A (p.Ala310Asp)
c.293C>A (p.Ala98Asp)
3g.10375486C>ACA351784314ATP2B2c.1225G>T (p.Ala409Ser)
c.1327G>T (p.Ala443Ser)
c.1360G>T (p.Ala454Ser)
c.1267G>T (p.Ala423Ser)
c.619G>T (p.Ala207Ser)
c.928G>T (p.Ala310Ser)
c.292G>T (p.Ala98Ser)
3g.10375486C>GCA351784316ATP2B2c.1225G>C (p.Ala409Pro)
c.1327G>C (p.Ala443Pro)
c.1360G>C (p.Ala454Pro)
c.1267G>C (p.Ala423Pro)
c.619G>C (p.Ala207Pro)
c.928G>C (p.Ala310Pro)
c.292G>C (p.Ala98Pro)
3g.10375486C>TCA351784317ATP2B2c.1225G>A (p.Ala409Thr)
c.1327G>A (p.Ala443Thr)
c.1360G>A (p.Ala454Thr)
c.1267G>A (p.Ala423Thr)
c.619G>A (p.Ala207Thr)
c.928G>A (p.Ala310Thr)
c.292G>A (p.Ala98Thr)
 gnomAD v4
3g.10375487G>ACA70116156ATP2B2c.1224C>T (p.Val408=)
c.1326C>T (p.Val442=)
c.1359C>T (p.Val453=)
c.1266C>T (p.Val422=)
c.618C>T (p.Val206=)
c.927C>T (p.Val309=)
c.291C>T (p.Val97=)
 dbSNP gnomAD v3 gnomAD v4
3g.10375487G>CCA432441097ATP2B2c.1224C>G (p.Val408=)
c.1326C>G (p.Val442=)
c.1359C>G (p.Val453=)
c.1266C>G (p.Val422=)
c.618C>G (p.Val206=)
c.927C>G (p.Val309=)
c.291C>G (p.Val97=)
3g.10375487G=CA1345182367ATP2B2c.1224C= (p.Val408=)
c.1326C= (p.Val442=)
c.1359C= (p.Val453=)
c.1266C= (p.Val422=)
c.618C= (p.Val206=)
c.927C= (p.Val309=)
c.291C= (p.Val97=)
3g.10375487G>TCA432441099ATP2B2c.1224C>A (p.Val408=)
c.1326C>A (p.Val442=)
c.1359C>A (p.Val453=)
c.1266C>A (p.Val422=)
c.618C>A (p.Val206=)
c.927C>A (p.Val309=)
c.291C>A (p.Val97=)
 gnomAD v4 COSMIC COSMIC
3g.10375488A>CCA351784319ATP2B2c.1223T>G (p.Val408Gly)
c.1325T>G (p.Val442Gly)
c.1358T>G (p.Val453Gly)
c.1265T>G (p.Val422Gly)
c.617T>G (p.Val206Gly)
c.926T>G (p.Val309Gly)
c.290T>G (p.Val97Gly)
3g.10375488A>GCA351784321ATP2B2c.1223T>C (p.Val408Ala)
c.1325T>C (p.Val442Ala)
c.1358T>C (p.Val453Ala)
c.1265T>C (p.Val422Ala)
c.617T>C (p.Val206Ala)
c.926T>C (p.Val309Ala)
c.290T>C (p.Val97Ala)
3g.10375488A>TCA351784322ATP2B2c.1223T>A (p.Val408Asp)
c.1325T>A (p.Val442Asp)
c.1358T>A (p.Val453Asp)
c.1265T>A (p.Val422Asp)
c.617T>A (p.Val206Asp)
c.926T>A (p.Val309Asp)
c.290T>A (p.Val97Asp)
3g.10375489C>ACA351784324ATP2B2c.1222G>T (p.Val408Phe)
c.1324G>T (p.Val442Phe)
c.1357G>T (p.Val453Phe)
c.1264G>T (p.Val422Phe)
c.616G>T (p.Val206Phe)
c.925G>T (p.Val309Phe)
c.289G>T (p.Val97Phe)
3g.10375489C>GCA351784326ATP2B2c.1222G>C (p.Val408Leu)
c.1324G>C (p.Val442Leu)
c.1357G>C (p.Val453Leu)
c.1264G>C (p.Val422Leu)
c.616G>C (p.Val206Leu)
c.925G>C (p.Val309Leu)
c.289G>C (p.Val97Leu)
3g.10375489C>TCA351784323ATP2B2c.1222G>A (p.Val408Ile)
c.1324G>A (p.Val442Ile)
c.1357G>A (p.Val453Ile)
c.1264G>A (p.Val422Ile)
c.616G>A (p.Val206Ile)
c.925G>A (p.Val309Ile)
c.289G>A (p.Val97Ile)
3g.10375490C>ACA432441106ATP2B2c.1221G>T (p.Val407=)
c.1323G>T (p.Val441=)
c.1356G>T (p.Val452=)
c.1263G>T (p.Val421=)
c.615G>T (p.Val205=)
c.924G>T (p.Val308=)
c.288G>T (p.Val96=)
3g.10375490C=CA1345182372ATP2B2c.1221G= (p.Val407=)
c.1323G= (p.Val441=)
c.1356G= (p.Val452=)
c.1263G= (p.Val421=)
c.615G= (p.Val205=)
c.924G= (p.Val308=)
c.288G= (p.Val96=)
3g.10375490C>GCA432441107ATP2B2c.1221G>C (p.Val407=)
c.1323G>C (p.Val441=)
c.1356G>C (p.Val452=)
c.1263G>C (p.Val421=)
c.615G>C (p.Val205=)
c.924G>C (p.Val308=)
c.288G>C (p.Val96=)
3g.10375490C>TCA432441109ATP2B2c.1221G>A (p.Val407=)
c.1323G>A (p.Val441=)
c.1356G>A (p.Val452=)
c.1263G>A (p.Val421=)
c.615G>A (p.Val205=)
c.924G>A (p.Val308=)
c.288G>A (p.Val96=)
 dbSNP gnomAD v3 gnomAD v4
3g.10375491A>CCA351784328ATP2B2c.1220T>G (p.Val407Gly)
c.1322T>G (p.Val441Gly)
c.1355T>G (p.Val452Gly)
c.1262T>G (p.Val421Gly)
c.614T>G (p.Val205Gly)
c.923T>G (p.Val308Gly)
c.287T>G (p.Val96Gly)
3g.10375491A>GCA351784330ATP2B2c.1220T>C (p.Val407Ala)
c.1322T>C (p.Val441Ala)
c.1355T>C (p.Val452Ala)
c.1262T>C (p.Val421Ala)
c.614T>C (p.Val205Ala)
c.923T>C (p.Val308Ala)
c.287T>C (p.Val96Ala)
3g.10375491A>TCA351784331ATP2B2c.1220T>A (p.Val407Glu)
c.1322T>A (p.Val441Glu)
c.1355T>A (p.Val452Glu)
c.1262T>A (p.Val421Glu)
c.614T>A (p.Val205Glu)
c.923T>A (p.Val308Glu)
c.287T>A (p.Val96Glu)
3g.10375492C>ACA351784332ATP2B2c.1219G>T (p.Val407Leu)
c.1321G>T (p.Val441Leu)
c.1354G>T (p.Val452Leu)
c.1261G>T (p.Val421Leu)
c.613G>T (p.Val205Leu)
c.922G>T (p.Val308Leu)
c.286G>T (p.Val96Leu)
3g.10375492C>GCA351784333ATP2B2c.1219G>C (p.Val407Leu)
c.1321G>C (p.Val441Leu)
c.1354G>C (p.Val452Leu)
c.1261G>C (p.Val421Leu)
c.613G>C (p.Val205Leu)
c.922G>C (p.Val308Leu)
c.286G>C (p.Val96Leu)
3g.10375492C>TCA351784335ATP2B2c.1219G>A (p.Val407Met)
c.1321G>A (p.Val441Met)
c.1354G>A (p.Val452Met)
c.1261G>A (p.Val421Met)
c.613G>A (p.Val205Met)
c.922G>A (p.Val308Met)
c.286G>A (p.Val96Met)
3g.10375493C>ACA432441118ATP2B2c.1218G>T (p.Leu406=)
c.1320G>T (p.Leu440=)
c.1353G>T (p.Leu451=)
c.1260G>T (p.Leu420=)
c.612G>T (p.Leu204=)
c.921G>T (p.Leu307=)
c.285G>T (p.Leu95=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375493C=CA1345182376ATP2B2c.1218G= (p.Leu406=)
c.1320G= (p.Leu440=)
c.1353G= (p.Leu451=)
c.1260G= (p.Leu420=)
c.612G= (p.Leu204=)
c.921G= (p.Leu307=)
c.285G= (p.Leu95=)
3g.10375493C>GCA432441116ATP2B2c.1218G>C (p.Leu406=)
c.1320G>C (p.Leu440=)
c.1353G>C (p.Leu451=)
c.1260G>C (p.Leu420=)
c.612G>C (p.Leu204=)
c.921G>C (p.Leu307=)
c.285G>C (p.Leu95=)
3g.10375493C>TCA2253689ATP2B2c.1218G>A (p.Leu406=)
c.1320G>A (p.Leu440=)
c.1353G>A (p.Leu451=)
c.1260G>A (p.Leu420=)
c.612G>A (p.Leu204=)
c.921G>A (p.Leu307=)
c.285G>A (p.Leu95=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375494A>CCA351784338ATP2B2c.1217T>G (p.Leu406Arg)
c.1319T>G (p.Leu440Arg)
c.1352T>G (p.Leu451Arg)
c.1259T>G (p.Leu420Arg)
c.611T>G (p.Leu204Arg)
c.920T>G (p.Leu307Arg)
c.284T>G (p.Leu95Arg)
3g.10375494A>GCA351784339ATP2B2c.1217T>C (p.Leu406Pro)
c.1319T>C (p.Leu440Pro)
c.1352T>C (p.Leu451Pro)
c.1259T>C (p.Leu420Pro)
c.611T>C (p.Leu204Pro)
c.920T>C (p.Leu307Pro)
c.284T>C (p.Leu95Pro)
3g.10375494A>TCA351784340ATP2B2c.1217T>A (p.Leu406Gln)
c.1319T>A (p.Leu440Gln)
c.1352T>A (p.Leu451Gln)
c.1259T>A (p.Leu420Gln)
c.611T>A (p.Leu204Gln)
c.920T>A (p.Leu307Gln)
c.284T>A (p.Leu95Gln)
3g.10375495G>ACA432441123ATP2B2c.1216C>T (p.Leu406=)
c.1318C>T (p.Leu440=)
c.1351C>T (p.Leu451=)
c.1258C>T (p.Leu420=)
c.610C>T (p.Leu204=)
c.919C>T (p.Leu307=)
c.283C>T (p.Leu95=)
 dbSNP gnomAD v2 gnomAD v4
3g.10375495G>CCA351784342ATP2B2c.1216C>G (p.Leu406Val)
c.1318C>G (p.Leu440Val)
c.1351C>G (p.Leu451Val)
c.1258C>G (p.Leu420Val)
c.610C>G (p.Leu204Val)
c.919C>G (p.Leu307Val)
c.283C>G (p.Leu95Val)
3g.10375495G=CA1345182378ATP2B2c.1216C= (p.Leu406=)
c.1318C= (p.Leu440=)
c.1351C= (p.Leu451=)
c.1258C= (p.Leu420=)
c.610C= (p.Leu204=)
c.919C= (p.Leu307=)
c.283C= (p.Leu95=)
3g.10375495G>TCA351784344ATP2B2c.1216C>A (p.Leu406Met)
c.1318C>A (p.Leu440Met)
c.1351C>A (p.Leu451Met)
c.1258C>A (p.Leu420Met)
c.610C>A (p.Leu204Met)
c.919C>A (p.Leu307Met)
c.283C>A (p.Leu95Met)
3g.10375496C>ACA432441127ATP2B2c.1215G>T (p.Val405=)
c.1317G>T (p.Val439=)
c.1350G>T (p.Val450=)
c.1257G>T (p.Val419=)
c.609G>T (p.Val203=)
c.918G>T (p.Val306=)
c.282G>T (p.Val94=)
3g.10375496C>GCA432441130ATP2B2c.1215G>C (p.Val405=)
c.1317G>C (p.Val439=)
c.1350G>C (p.Val450=)
c.1257G>C (p.Val419=)
c.609G>C (p.Val203=)
c.918G>C (p.Val306=)
c.282G>C (p.Val94=)
3g.10375496C>TCA432441129ATP2B2c.1215G>A (p.Val405=)
c.1317G>A (p.Val439=)
c.1350G>A (p.Val450=)
c.1257G>A (p.Val419=)
c.609G>A (p.Val203=)
c.918G>A (p.Val306=)
c.282G>A (p.Val94=)
3g.10375497A>CCA351784347ATP2B2c.1214T>G (p.Val405Gly)
c.1316T>G (p.Val439Gly)
c.1349T>G (p.Val450Gly)
c.1256T>G (p.Val419Gly)
c.608T>G (p.Val203Gly)
c.917T>G (p.Val306Gly)
c.281T>G (p.Val94Gly)
3g.10375497A>GCA351784349ATP2B2c.1214T>C (p.Val405Ala)
c.1316T>C (p.Val439Ala)
c.1349T>C (p.Val450Ala)
c.1256T>C (p.Val419Ala)
c.608T>C (p.Val203Ala)
c.917T>C (p.Val306Ala)
c.281T>C (p.Val94Ala)
3g.10375497A>TCA351784346ATP2B2c.1214T>A (p.Val405Glu)
c.1316T>A (p.Val439Glu)
c.1349T>A (p.Val450Glu)
c.1256T>A (p.Val419Glu)
c.608T>A (p.Val203Glu)
c.917T>A (p.Val306Glu)
c.281T>A (p.Val94Glu)
3g.10375498C>ACA351784350ATP2B2c.1213G>T (p.Val405Leu)
c.1315G>T (p.Val439Leu)
c.1348G>T (p.Val450Leu)
c.1255G>T (p.Val419Leu)
c.607G>T (p.Val203Leu)
c.916G>T (p.Val306Leu)
c.280G>T (p.Val94Leu)
3g.10375498C>GCA351784352ATP2B2c.1213G>C (p.Val405Leu)
c.1315G>C (p.Val439Leu)
c.1348G>C (p.Val450Leu)
c.1255G>C (p.Val419Leu)
c.607G>C (p.Val203Leu)
c.916G>C (p.Val306Leu)
c.280G>C (p.Val94Leu)
 ClinVar dbSNP
3g.10375498C>TCA351784353ATP2B2c.1213G>A (p.Val405Met)
c.1315G>A (p.Val439Met)
c.1348G>A (p.Val450Met)
c.1255G>A (p.Val419Met)
c.607G>A (p.Val203Met)
c.916G>A (p.Val306Met)
c.280G>A (p.Val94Met)
3g.10375499C>ACA432441135ATP2B2c.1212G>T (p.Thr404=)
c.1314G>T (p.Thr438=)
c.1347G>T (p.Thr449=)
c.1254G>T (p.Thr418=)
c.606G>T (p.Thr202=)
c.915G>T (p.Thr305=)
c.279G>T (p.Thr93=)
 COSMIC COSMIC
3g.10375499C=CA1345182380ATP2B2c.1212G= (p.Thr404=)
c.1314G= (p.Thr438=)
c.1347G= (p.Thr449=)
c.1254G= (p.Thr418=)
c.606G= (p.Thr202=)
c.915G= (p.Thr305=)
c.279G= (p.Thr93=)
3g.10375499C>GCA432441136ATP2B2c.1212G>C (p.Thr404=)
c.1314G>C (p.Thr438=)
c.1347G>C (p.Thr449=)
c.1254G>C (p.Thr418=)
c.606G>C (p.Thr202=)
c.915G>C (p.Thr305=)
c.279G>C (p.Thr93=)
3g.10375499C>TCA2253690ATP2B2c.1212G>A (p.Thr404=)
c.1314G>A (p.Thr438=)
c.1347G>A (p.Thr449=)
c.1254G>A (p.Thr418=)
c.606G>A (p.Thr202=)
c.915G>A (p.Thr305=)
c.279G>A (p.Thr93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10375500G>ACA351784358ATP2B2c.1211C>T (p.Thr404Met)
c.1313C>T (p.Thr438Met)
c.1346C>T (p.Thr449Met)
c.1253C>T (p.Thr418Met)
c.605C>T (p.Thr202Met)
c.914C>T (p.Thr305Met)
c.278C>T (p.Thr93Met)
 gnomAD v4
3g.10375500G>CCA351784357ATP2B2c.1211C>G (p.Thr404Arg)
c.1313C>G (p.Thr438Arg)
c.1346C>G (p.Thr449Arg)
c.1253C>G (p.Thr418Arg)
c.605C>G (p.Thr202Arg)
c.914C>G (p.Thr305Arg)
c.278C>G (p.Thr93Arg)
3g.10375500G>TCA351784355ATP2B2c.1211C>A (p.Thr404Lys)
c.1313C>A (p.Thr438Lys)
c.1346C>A (p.Thr449Lys)
c.1253C>A (p.Thr418Lys)
c.605C>A (p.Thr202Lys)
c.914C>A (p.Thr305Lys)
c.278C>A (p.Thr93Lys)
3g.10375501T>ACA351784359ATP2B2c.1210A>T (p.Thr404Ser)
c.1312A>T (p.Thr438Ser)
c.1345A>T (p.Thr449Ser)
c.1252A>T (p.Thr418Ser)
c.604A>T (p.Thr202Ser)
c.913A>T (p.Thr305Ser)
c.277A>T (p.Thr93Ser)
3g.10375501T>CCA351784360ATP2B2c.1210A>G (p.Thr404Ala)
c.1312A>G (p.Thr438Ala)
c.1345A>G (p.Thr449Ala)
c.1252A>G (p.Thr418Ala)
c.604A>G (p.Thr202Ala)
c.913A>G (p.Thr305Ala)
c.277A>G (p.Thr93Ala)
3g.10375501T>GCA351784361ATP2B2c.1210A>C (p.Thr404Pro)
c.1312A>C (p.Thr438Pro)
c.1345A>C (p.Thr449Pro)
c.1252A>C (p.Thr418Pro)
c.604A>C (p.Thr202Pro)
c.913A>C (p.Thr305Pro)
c.277A>C (p.Thr93Pro)

Number of alleles fetched