Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.10359823_10359849delinsTCCCCAGCTCCCTGCACCAGGGCACAGCA1345191571ATP2B2c.1766+33_1766+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA (n.1766+33_1766+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA)
c.1868+33_1868+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA (n.1868+33_1868+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA)
c.1901+33_1901+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA (n.1901+33_1901+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA)
c.1808+33_1808+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA (n.1808+33_1808+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA)
c.1160+33_1160+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA (n.1160+33_1160+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA)
c.1469+33_1469+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA (n.1469+33_1469+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA)
c.833+33_833+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA (n.833+33_833+59delinsCTGTGCCCTGGTGCAGGGAGCTGGGGA)
3g.10359827_10359852delCA1345191572ATP2B2c.1766+33_1766+58del (n.1766+33_1766+58del)
c.1868+33_1868+58del (n.1868+33_1868+58del)
c.1901+33_1901+58del (n.1901+33_1901+58del)
c.1808+33_1808+58del (n.1808+33_1808+58del)
c.1160+33_1160+58del (n.1160+33_1160+58del)
c.1469+33_1469+58del (n.1469+33_1469+58del)
c.833+33_833+58del (n.833+33_833+58del)
 dbSNP
3g.10359841_10359852delCA2664424717ATP2B2c.1766+32_1766+43del (n.1766+32_1766+43del)
c.1868+32_1868+43del (n.1868+32_1868+43del)
c.1901+32_1901+43del (n.1901+32_1901+43del)
c.1808+32_1808+43del (n.1808+32_1808+43del)
c.1160+32_1160+43del (n.1160+32_1160+43del)
c.1469+32_1469+43del (n.1469+32_1469+43del)
c.833+32_833+43del (n.833+32_833+43del)
 gnomAD v4
3g.10359847C=CA1345191597ATP2B2c.1766+35G= (n.1766+35G=)
c.1868+35G= (n.1868+35G=)
c.1901+35G= (n.1901+35G=)
c.1808+35G= (n.1808+35G=)
c.1160+35G= (n.1160+35G=)
c.1469+35G= (n.1469+35G=)
c.833+35G= (n.833+35G=)
3g.10359847C>TCA70099783ATP2B2c.1766+35G>A (n.1766+35G>A)
c.1868+35G>A (n.1868+35G>A)
c.1901+35G>A (n.1901+35G>A)
c.1808+35G>A (n.1808+35G>A)
c.1160+35G>A (n.1160+35G>A)
c.1469+35G>A (n.1469+35G>A)
c.833+35G>A (n.833+35G>A)
 dbSNP gnomAD v4
3g.10359849G=CA1345191599ATP2B2c.1766+33C= (n.1766+33C=)
c.1868+33C= (n.1868+33C=)
c.1901+33C= (n.1901+33C=)
c.1808+33C= (n.1808+33C=)
c.1160+33C= (n.1160+33C=)
c.1469+33C= (n.1469+33C=)
c.833+33C= (n.833+33C=)
3g.10359849G>TCA70099785ATP2B2c.1766+33C>A (n.1766+33C>A)
c.1868+33C>A (n.1868+33C>A)
c.1901+33C>A (n.1901+33C>A)
c.1808+33C>A (n.1808+33C>A)
c.1160+33C>A (n.1160+33C>A)
c.1469+33C>A (n.1469+33C>A)
c.833+33C>A (n.833+33C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.10359850C>ACA2253552ATP2B2c.1766+32G>T (n.1766+32G>T)
c.1868+32G>T (n.1868+32G>T)
c.1901+32G>T (n.1901+32G>T)
c.1808+32G>T (n.1808+32G>T)
c.1160+32G>T (n.1160+32G>T)
c.1469+32G>T (n.1469+32G>T)
c.833+32G>T (n.833+32G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359850C=CA1345191601ATP2B2c.1766+32G= (n.1766+32G=)
c.1868+32G= (n.1868+32G=)
c.1901+32G= (n.1901+32G=)
c.1808+32G= (n.1808+32G=)
c.1160+32G= (n.1160+32G=)
c.1469+32G= (n.1469+32G=)
c.833+32G= (n.833+32G=)
3g.10359850C>GCA70099806ATP2B2c.1766+32G>C (n.1766+32G>C)
c.1868+32G>C (n.1868+32G>C)
c.1901+32G>C (n.1901+32G>C)
c.1808+32G>C (n.1808+32G>C)
c.1160+32G>C (n.1160+32G>C)
c.1469+32G>C (n.1469+32G>C)
c.833+32G>C (n.833+32G>C)
 dbSNP
3g.10359851C=CA1345191603ATP2B2c.1766+31G= (n.1766+31G=)
c.1868+31G= (n.1868+31G=)
c.1901+31G= (n.1901+31G=)
c.1808+31G= (n.1808+31G=)
c.1160+31G= (n.1160+31G=)
c.1469+31G= (n.1469+31G=)
c.833+31G= (n.833+31G=)
3g.10359851C>TCA2253553ATP2B2c.1766+31G>A (n.1766+31G>A)
c.1868+31G>A (n.1868+31G>A)
c.1901+31G>A (n.1901+31G>A)
c.1808+31G>A (n.1808+31G>A)
c.1160+31G>A (n.1160+31G>A)
c.1469+31G>A (n.1469+31G>A)
c.833+31G>A (n.833+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359852C=CA1345191604ATP2B2c.1766+30G= (n.1766+30G=)
c.1868+30G= (n.1868+30G=)
c.1901+30G= (n.1901+30G=)
c.1808+30G= (n.1808+30G=)
c.1160+30G= (n.1160+30G=)
c.1469+30G= (n.1469+30G=)
c.833+30G= (n.833+30G=)
3g.10359852C>TCA1345191605ATP2B2c.1766+30G>A (n.1766+30G>A)
c.1868+30G>A (n.1868+30G>A)
c.1901+30G>A (n.1901+30G>A)
c.1808+30G>A (n.1808+30G>A)
c.1160+30G>A (n.1160+30G>A)
c.1469+30G>A (n.1469+30G>A)
c.833+30G>A (n.833+30G>A)
 dbSNP
3g.10359853T>ACA2664424721ATP2B2c.1766+29A>T (n.1766+29A>T)
c.1868+29A>T (n.1868+29A>T)
c.1901+29A>T (n.1901+29A>T)
c.1808+29A>T (n.1808+29A>T)
c.1160+29A>T (n.1160+29A>T)
c.1469+29A>T (n.1469+29A>T)
c.833+29A>T (n.833+29A>T)
 gnomAD v4
3g.10359853T=CA1345191607ATP2B2c.1766+29A= (n.1766+29A=)
c.1868+29A= (n.1868+29A=)
c.1901+29A= (n.1901+29A=)
c.1808+29A= (n.1808+29A=)
c.1160+29A= (n.1160+29A=)
c.1469+29A= (n.1469+29A=)
c.833+29A= (n.833+29A=)
3g.10359854C>GCA2664424722ATP2B2c.1766+28G>C (n.1766+28G>C)
c.1868+28G>C (n.1868+28G>C)
c.1901+28G>C (n.1901+28G>C)
c.1808+28G>C (n.1808+28G>C)
c.1160+28G>C (n.1160+28G>C)
c.1469+28G>C (n.1469+28G>C)
c.833+28G>C (n.833+28G>C)
 gnomAD v4
3g.10359854_10359860dupCA1045019006ATP2B2c.1766+22_1766+28dup (n.1766+22_1766+28dup)
c.1868+22_1868+28dup (n.1868+22_1868+28dup)
c.1901+22_1901+28dup (n.1901+22_1901+28dup)
c.1808+22_1808+28dup (n.1808+22_1808+28dup)
c.1160+22_1160+28dup (n.1160+22_1160+28dup)
c.1469+22_1469+28dup (n.1469+22_1469+28dup)
c.833+22_833+28dup (n.833+22_833+28dup)
 dbSNP gnomAD v3 gnomAD v4
3g.10359855A=CA1345191610ATP2B2c.1766+27T= (n.1766+27T=)
c.1868+27T= (n.1868+27T=)
c.1901+27T= (n.1901+27T=)
c.1808+27T= (n.1808+27T=)
c.1160+27T= (n.1160+27T=)
c.1469+27T= (n.1469+27T=)
c.833+27T= (n.833+27T=)
3g.10359855A>TCA1345191609ATP2B2c.1766+27T>A (n.1766+27T>A)
c.1868+27T>A (n.1868+27T>A)
c.1901+27T>A (n.1901+27T>A)
c.1808+27T>A (n.1808+27T>A)
c.1160+27T>A (n.1160+27T>A)
c.1469+27T>A (n.1469+27T>A)
c.833+27T>A (n.833+27T>A)
 dbSNP
3g.10359856G>TCA647438783ATP2B2c.1766+26C>A (n.1766+26C>A)
c.1868+26C>A (n.1868+26C>A)
c.1901+26C>A (n.1901+26C>A)
c.1808+26C>A (n.1808+26C>A)
c.1160+26C>A (n.1160+26C>A)
c.1469+26C>A (n.1469+26C>A)
c.833+26C>A (n.833+26C>A)
 COSMIC
3g.10359857C>ACA2253554ATP2B2c.1766+25G>T (n.1766+25G>T)
c.1868+25G>T (n.1868+25G>T)
c.1901+25G>T (n.1901+25G>T)
c.1808+25G>T (n.1808+25G>T)
c.1160+25G>T (n.1160+25G>T)
c.1469+25G>T (n.1469+25G>T)
c.833+25G>T (n.833+25G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359857C=CA1345191612ATP2B2c.1766+25G= (n.1766+25G=)
c.1868+25G= (n.1868+25G=)
c.1901+25G= (n.1901+25G=)
c.1808+25G= (n.1808+25G=)
c.1160+25G= (n.1160+25G=)
c.1469+25G= (n.1469+25G=)
c.833+25G= (n.833+25G=)
3g.10359859C=CA1345191614ATP2B2c.1766+23G= (n.1766+23G=)
c.1868+23G= (n.1868+23G=)
c.1901+23G= (n.1901+23G=)
c.1808+23G= (n.1808+23G=)
c.1160+23G= (n.1160+23G=)
c.1469+23G= (n.1469+23G=)
c.833+23G= (n.833+23G=)
3g.10359859C>TCA541213830ATP2B2c.1766+23G>A (n.1766+23G>A)
c.1868+23G>A (n.1868+23G>A)
c.1901+23G>A (n.1901+23G>A)
c.1808+23G>A (n.1808+23G>A)
c.1160+23G>A (n.1160+23G>A)
c.1469+23G>A (n.1469+23G>A)
c.833+23G>A (n.833+23G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.10359860C>ACA2664424723ATP2B2c.1766+22G>T (n.1766+22G>T)
c.1868+22G>T (n.1868+22G>T)
c.1901+22G>T (n.1901+22G>T)
c.1808+22G>T (n.1808+22G>T)
c.1160+22G>T (n.1160+22G>T)
c.1469+22G>T (n.1469+22G>T)
c.833+22G>T (n.833+22G>T)
 gnomAD v4
3g.10359860C=CA1345191616ATP2B2c.1766+22G= (n.1766+22G=)
c.1868+22G= (n.1868+22G=)
c.1901+22G= (n.1901+22G=)
c.1808+22G= (n.1808+22G=)
c.1160+22G= (n.1160+22G=)
c.1469+22G= (n.1469+22G=)
c.833+22G= (n.833+22G=)
3g.10359860C>GCA2253555ATP2B2c.1766+22G>C (n.1766+22G>C)
c.1868+22G>C (n.1868+22G>C)
c.1901+22G>C (n.1901+22G>C)
c.1808+22G>C (n.1808+22G>C)
c.1160+22G>C (n.1160+22G>C)
c.1469+22G>C (n.1469+22G>C)
c.833+22G>C (n.833+22G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359860C>TCA2253556ATP2B2c.1766+22G>A (n.1766+22G>A)
c.1868+22G>A (n.1868+22G>A)
c.1901+22G>A (n.1901+22G>A)
c.1808+22G>A (n.1808+22G>A)
c.1160+22G>A (n.1160+22G>A)
c.1469+22G>A (n.1469+22G>A)
c.833+22G>A (n.833+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359861G>ACA2253557ATP2B2c.1766+21C>T (n.1766+21C>T)
c.1868+21C>T (n.1868+21C>T)
c.1901+21C>T (n.1901+21C>T)
c.1808+21C>T (n.1808+21C>T)
c.1160+21C>T (n.1160+21C>T)
c.1469+21C>T (n.1469+21C>T)
c.833+21C>T (n.833+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359861G=CA1345191619ATP2B2c.1766+21C= (n.1766+21C=)
c.1868+21C= (n.1868+21C=)
c.1901+21C= (n.1901+21C=)
c.1808+21C= (n.1808+21C=)
c.1160+21C= (n.1160+21C=)
c.1469+21C= (n.1469+21C=)
c.833+21C= (n.833+21C=)
3g.10359861G>TCA2664424724ATP2B2c.1766+21C>A (n.1766+21C>A)
c.1868+21C>A (n.1868+21C>A)
c.1901+21C>A (n.1901+21C>A)
c.1808+21C>A (n.1808+21C>A)
c.1160+21C>A (n.1160+21C>A)
c.1469+21C>A (n.1469+21C>A)
c.833+21C>A (n.833+21C>A)
 gnomAD v4
3g.10359862G>ACA1045019019ATP2B2c.1766+20C>T (n.1766+20C>T)
c.1868+20C>T (n.1868+20C>T)
c.1901+20C>T (n.1901+20C>T)
c.1808+20C>T (n.1808+20C>T)
c.1160+20C>T (n.1160+20C>T)
c.1469+20C>T (n.1469+20C>T)
c.833+20C>T (n.833+20C>T)
 dbSNP
3g.10359862G=CA1345191622ATP2B2c.1766+20C= (n.1766+20C=)
c.1868+20C= (n.1868+20C=)
c.1901+20C= (n.1901+20C=)
c.1808+20C= (n.1808+20C=)
c.1160+20C= (n.1160+20C=)
c.1469+20C= (n.1469+20C=)
c.833+20C= (n.833+20C=)
3g.10359864G>ACA541213831ATP2B2c.1766+18C>T (n.1766+18C>T)
c.1868+18C>T (n.1868+18C>T)
c.1901+18C>T (n.1901+18C>T)
c.1808+18C>T (n.1808+18C>T)
c.1160+18C>T (n.1160+18C>T)
c.1469+18C>T (n.1469+18C>T)
c.833+18C>T (n.833+18C>T)
 dbSNP gnomAD v2
3g.10359864G=CA1345191624ATP2B2c.1766+18C= (n.1766+18C=)
c.1868+18C= (n.1868+18C=)
c.1901+18C= (n.1901+18C=)
c.1808+18C= (n.1808+18C=)
c.1160+18C= (n.1160+18C=)
c.1469+18C= (n.1469+18C=)
c.833+18C= (n.833+18C=)
3g.10359866C=CA1345191625ATP2B2c.1766+16G= (n.1766+16G=)
c.1868+16G= (n.1868+16G=)
c.1901+16G= (n.1901+16G=)
c.1808+16G= (n.1808+16G=)
c.1160+16G= (n.1160+16G=)
c.1469+16G= (n.1469+16G=)
c.833+16G= (n.833+16G=)
3g.10359866C>TCA541213832ATP2B2c.1766+16G>A (n.1766+16G>A)
c.1868+16G>A (n.1868+16G>A)
c.1901+16G>A (n.1901+16G>A)
c.1808+16G>A (n.1808+16G>A)
c.1160+16G>A (n.1160+16G>A)
c.1469+16G>A (n.1469+16G>A)
c.833+16G>A (n.833+16G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.10359867C>TCA2664424725ATP2B2c.1766+15G>A (n.1766+15G>A)
c.1868+15G>A (n.1868+15G>A)
c.1901+15G>A (n.1901+15G>A)
c.1808+15G>A (n.1808+15G>A)
c.1160+15G>A (n.1160+15G>A)
c.1469+15G>A (n.1469+15G>A)
c.833+15G>A (n.833+15G>A)
 gnomAD v4
3g.10359868T>CCA2702178047ATP2B2c.1766+14A>G (n.1766+14A>G)
c.1868+14A>G (n.1868+14A>G)
c.1901+14A>G (n.1901+14A>G)
c.1808+14A>G (n.1808+14A>G)
c.1160+14A>G (n.1160+14A>G)
c.1469+14A>G (n.1469+14A>G)
c.833+14A>G (n.833+14A>G)
 dbSNP
3g.10359868T>GCA2664424726ATP2B2c.1766+14A>C (n.1766+14A>C)
c.1868+14A>C (n.1868+14A>C)
c.1901+14A>C (n.1901+14A>C)
c.1808+14A>C (n.1808+14A>C)
c.1160+14A>C (n.1160+14A>C)
c.1469+14A>C (n.1469+14A>C)
c.833+14A>C (n.833+14A>C)
 gnomAD v4
3g.10359869G>ACA2577507011ATP2B2c.1766+13C>T (n.1766+13C>T)
c.1868+13C>T (n.1868+13C>T)
c.1901+13C>T (n.1901+13C>T)
c.1808+13C>T (n.1808+13C>T)
c.1160+13C>T (n.1160+13C>T)
c.1469+13C>T (n.1469+13C>T)
c.833+13C>T (n.833+13C>T)
3g.10359869G>CCA1345191628ATP2B2c.1766+13C>G (n.1766+13C>G)
c.1868+13C>G (n.1868+13C>G)
c.1901+13C>G (n.1901+13C>G)
c.1808+13C>G (n.1808+13C>G)
c.1160+13C>G (n.1160+13C>G)
c.1469+13C>G (n.1469+13C>G)
c.833+13C>G (n.833+13C>G)
 dbSNP
3g.10359869G=CA1345191627ATP2B2c.1766+13C= (n.1766+13C=)
c.1868+13C= (n.1868+13C=)
c.1901+13C= (n.1901+13C=)
c.1808+13C= (n.1808+13C=)
c.1160+13C= (n.1160+13C=)
c.1469+13C= (n.1469+13C=)
c.833+13C= (n.833+13C=)
3g.10359870C>ACA2577507012ATP2B2c.1766+12G>T (n.1766+12G>T)
c.1868+12G>T (n.1868+12G>T)
c.1901+12G>T (n.1901+12G>T)
c.1808+12G>T (n.1808+12G>T)
c.1160+12G>T (n.1160+12G>T)
c.1469+12G>T (n.1469+12G>T)
c.833+12G>T (n.833+12G>T)
3g.10359872C=CA1345191630ATP2B2c.1766+10G= (n.1766+10G=)
c.1868+10G= (n.1868+10G=)
c.1901+10G= (n.1901+10G=)
c.1808+10G= (n.1808+10G=)
c.1160+10G= (n.1160+10G=)
c.1469+10G= (n.1469+10G=)
c.833+10G= (n.833+10G=)
3g.10359872C>TCA541213833ATP2B2c.1766+10G>A (n.1766+10G>A)
c.1868+10G>A (n.1868+10G>A)
c.1901+10G>A (n.1901+10G>A)
c.1808+10G>A (n.1808+10G>A)
c.1160+10G>A (n.1160+10G>A)
c.1469+10G>A (n.1469+10G>A)
c.833+10G>A (n.833+10G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.10359873A=CA1345191631ATP2B2c.1766+9T= (n.1766+9T=)
c.1868+9T= (n.1868+9T=)
c.1901+9T= (n.1901+9T=)
c.1808+9T= (n.1808+9T=)
c.1160+9T= (n.1160+9T=)
c.1469+9T= (n.1469+9T=)
c.833+9T= (n.833+9T=)
3g.10359873A>CCA541213834ATP2B2c.1766+9T>G (n.1766+9T>G)
c.1868+9T>G (n.1868+9T>G)
c.1901+9T>G (n.1901+9T>G)
c.1808+9T>G (n.1808+9T>G)
c.1160+9T>G (n.1160+9T>G)
c.1469+9T>G (n.1469+9T>G)
c.833+9T>G (n.833+9T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10359873A>GCA2664424727ATP2B2c.1766+9T>C (n.1766+9T>C)
c.1868+9T>C (n.1868+9T>C)
c.1901+9T>C (n.1901+9T>C)
c.1808+9T>C (n.1808+9T>C)
c.1160+9T>C (n.1160+9T>C)
c.1469+9T>C (n.1469+9T>C)
c.833+9T>C (n.833+9T>C)
 gnomAD v4
3g.10359874G>ACA541213835ATP2B2c.1766+8C>T (n.1766+8C>T)
c.1868+8C>T (n.1868+8C>T)
c.1901+8C>T (n.1901+8C>T)
c.1808+8C>T (n.1808+8C>T)
c.1160+8C>T (n.1160+8C>T)
c.1469+8C>T (n.1469+8C>T)
c.833+8C>T (n.833+8C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.10359874G=CA1345191636ATP2B2c.1766+8C= (n.1766+8C=)
c.1868+8C= (n.1868+8C=)
c.1901+8C= (n.1901+8C=)
c.1808+8C= (n.1808+8C=)
c.1160+8C= (n.1160+8C=)
c.1469+8C= (n.1469+8C=)
c.833+8C= (n.833+8C=)
3g.10359875C>ACA2664424728ATP2B2c.1766+7G>T (n.1766+7G>T)
c.1868+7G>T (n.1868+7G>T)
c.1901+7G>T (n.1901+7G>T)
c.1808+7G>T (n.1808+7G>T)
c.1160+7G>T (n.1160+7G>T)
c.1469+7G>T (n.1469+7G>T)
c.833+7G>T (n.833+7G>T)
 gnomAD v4
3g.10359875C=CA1345191639ATP2B2c.1766+7G= (n.1766+7G=)
c.1868+7G= (n.1868+7G=)
c.1901+7G= (n.1901+7G=)
c.1808+7G= (n.1808+7G=)
c.1160+7G= (n.1160+7G=)
c.1469+7G= (n.1469+7G=)
c.833+7G= (n.833+7G=)
3g.10359875C>TCA2253558ATP2B2c.1766+7G>A (n.1766+7G>A)
c.1868+7G>A (n.1868+7G>A)
c.1901+7G>A (n.1901+7G>A)
c.1808+7G>A (n.1808+7G>A)
c.1160+7G>A (n.1160+7G>A)
c.1469+7G>A (n.1469+7G>A)
c.833+7G>A (n.833+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.10359876G>ACA2253559ATP2B2c.1766+6C>T (n.1766+6C>T)
c.1868+6C>T (n.1868+6C>T)
c.1901+6C>T (n.1901+6C>T)
c.1808+6C>T (n.1808+6C>T)
c.1160+6C>T (n.1160+6C>T)
c.1469+6C>T (n.1469+6C>T)
c.833+6C>T (n.833+6C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359876G=CA1345191648ATP2B2c.1766+6C= (n.1766+6C=)
c.1868+6C= (n.1868+6C=)
c.1901+6C= (n.1901+6C=)
c.1808+6C= (n.1808+6C=)
c.1160+6C= (n.1160+6C=)
c.1469+6C= (n.1469+6C=)
c.833+6C= (n.833+6C=)
3g.10359876G>TCA896399702ATP2B2c.1766+6C>A (n.1766+6C>A)
c.1868+6C>A (n.1868+6C>A)
c.1901+6C>A (n.1901+6C>A)
c.1808+6C>A (n.1808+6C>A)
c.1160+6C>A (n.1160+6C>A)
c.1469+6C>A (n.1469+6C>A)
c.833+6C>A (n.833+6C>A)
 dbSNP gnomAD v4
3g.10359877_10359901dupCA1045019027ATP2B2c.1747_1766+5dup
c.1849_1868+5dup
c.1882_1901+5dup
c.1789_1808+5dup
c.1141_1160+5dup
c.1450_1469+5dup
c.814_833+5dup
 gnomAD v3 gnomAD v4
3g.10359878T>CCA645535562ATP2B2c.1766+4A>G (n.1766+4A>G)
c.1868+4A>G (n.1868+4A>G)
c.1901+4A>G (n.1901+4A>G)
c.1808+4A>G (n.1808+4A>G)
c.1160+4A>G (n.1160+4A>G)
c.1469+4A>G (n.1469+4A>G)
c.833+4A>G (n.833+4A>G)
 COSMIC COSMIC
3g.10359880A>CCA351781129ATP2B2c.1766+2T>G (n.1766+2T>G)
c.1868+2T>G (n.1868+2T>G)
c.1901+2T>G (n.1901+2T>G)
c.1808+2T>G (n.1808+2T>G)
c.1160+2T>G (n.1160+2T>G)
c.1469+2T>G (n.1469+2T>G)
c.833+2T>G (n.833+2T>G)
3g.10359880A>GCA351781130ATP2B2c.1766+2T>C (n.1766+2T>C)
c.1868+2T>C (n.1868+2T>C)
c.1901+2T>C (n.1901+2T>C)
c.1808+2T>C (n.1808+2T>C)
c.1160+2T>C (n.1160+2T>C)
c.1469+2T>C (n.1469+2T>C)
c.833+2T>C (n.833+2T>C)
3g.10359880A>TCA351781131ATP2B2c.1766+2T>A (n.1766+2T>A)
c.1868+2T>A (n.1868+2T>A)
c.1901+2T>A (n.1901+2T>A)
c.1808+2T>A (n.1808+2T>A)
c.1160+2T>A (n.1160+2T>A)
c.1469+2T>A (n.1469+2T>A)
c.833+2T>A (n.833+2T>A)
3g.10359881C>ACA351781132ATP2B2c.1766+1G>T (n.1766+1G>T)
c.1868+1G>T (n.1868+1G>T)
c.1901+1G>T (n.1901+1G>T)
c.1808+1G>T (n.1808+1G>T)
c.1160+1G>T (n.1160+1G>T)
c.1469+1G>T (n.1469+1G>T)
c.833+1G>T (n.833+1G>T)
 dbSNP gnomAD v2
3g.10359881C=CA1345191651ATP2B2c.1766+1G= (n.1766+1G=)
c.1868+1G= (n.1868+1G=)
c.1901+1G= (n.1901+1G=)
c.1808+1G= (n.1808+1G=)
c.1160+1G= (n.1160+1G=)
c.1469+1G= (n.1469+1G=)
c.833+1G= (n.833+1G=)
3g.10359881C>GCA351781133ATP2B2c.1766+1G>C (n.1766+1G>C)
c.1868+1G>C (n.1868+1G>C)
c.1901+1G>C (n.1901+1G>C)
c.1808+1G>C (n.1808+1G>C)
c.1160+1G>C (n.1160+1G>C)
c.1469+1G>C (n.1469+1G>C)
c.833+1G>C (n.833+1G>C)
3g.10359881C>TCA351781134ATP2B2c.1766+1G>A (n.1766+1G>A)
c.1868+1G>A (n.1868+1G>A)
c.1901+1G>A (n.1901+1G>A)
c.1808+1G>A (n.1808+1G>A)
c.1160+1G>A (n.1160+1G>A)
c.1469+1G>A (n.1469+1G>A)
c.833+1G>A (n.833+1G>A)
3g.10359882T>ACA351781136ATP2B2c.1766A>T (p.Lys589Met)
c.1868A>T (p.Lys623Met)
c.1901A>T (p.Lys634Met)
c.1808A>T (p.Lys603Met)
c.1160A>T (p.Lys387Met)
c.1469A>T (p.Lys490Met)
c.833A>T (p.Lys278Met)
3g.10359882T>CCA2253560ATP2B2c.1766A>G (p.Lys589Arg)
c.1868A>G (p.Lys623Arg)
c.1901A>G (p.Lys634Arg)
c.1808A>G (p.Lys603Arg)
c.1160A>G (p.Lys387Arg)
c.1469A>G (p.Lys490Arg)
c.833A>G (p.Lys278Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359882T>GCA351781135ATP2B2c.1766A>C (p.Lys589Thr)
c.1868A>C (p.Lys623Thr)
c.1901A>C (p.Lys634Thr)
c.1808A>C (p.Lys603Thr)
c.1160A>C (p.Lys387Thr)
c.1469A>C (p.Lys490Thr)
c.833A>C (p.Lys278Thr)
3g.10359882T=CA1345191653ATP2B2c.1766A= (p.Lys589=)
c.1868A= (p.Lys623=)
c.1901A= (p.Lys634=)
c.1808A= (p.Lys603=)
c.1160A= (p.Lys387=)
c.1469A= (p.Lys490=)
c.833A= (p.Lys278=)
3g.10359883T>ACA351781137ATP2B2c.1765A>T (p.Lys589Ter)
c.1867A>T (p.Lys623Ter)
c.1900A>T (p.Lys634Ter)
c.1807A>T (p.Lys603Ter)
c.1159A>T (p.Lys387Ter)
c.1468A>T (p.Lys490Ter)
c.832A>T (p.Lys278Ter)
3g.10359883T>CCA351781138ATP2B2c.1765A>G (p.Lys589Glu)
c.1867A>G (p.Lys623Glu)
c.1900A>G (p.Lys634Glu)
c.1807A>G (p.Lys603Glu)
c.1159A>G (p.Lys387Glu)
c.1468A>G (p.Lys490Glu)
c.832A>G (p.Lys278Glu)
3g.10359883T>GCA351781139ATP2B2c.1765A>C (p.Lys589Gln)
c.1867A>C (p.Lys623Gln)
c.1900A>C (p.Lys634Gln)
c.1807A>C (p.Lys603Gln)
c.1159A>C (p.Lys387Gln)
c.1468A>C (p.Lys490Gln)
c.832A>C (p.Lys278Gln)
3g.10359884C>ACA351781140ATP2B2c.1764G>T (p.Lys588Asn)
c.1866G>T (p.Lys622Asn)
c.1899G>T (p.Lys633Asn)
c.1806G>T (p.Lys602Asn)
c.1158G>T (p.Lys386Asn)
c.1467G>T (p.Lys489Asn)
c.831G>T (p.Lys277Asn)
3g.10359884C>GCA351781141ATP2B2c.1764G>C (p.Lys588Asn)
c.1866G>C (p.Lys622Asn)
c.1899G>C (p.Lys633Asn)
c.1806G>C (p.Lys602Asn)
c.1158G>C (p.Lys386Asn)
c.1467G>C (p.Lys489Asn)
c.831G>C (p.Lys277Asn)
3g.10359884C>TCA432537769ATP2B2c.1764G>A (p.Lys588=)
c.1866G>A (p.Lys622=)
c.1899G>A (p.Lys633=)
c.1806G>A (p.Lys602=)
c.1158G>A (p.Lys386=)
c.1467G>A (p.Lys489=)
c.831G>A (p.Lys277=)
3g.10359885T>ACA351781142ATP2B2c.1763A>T (p.Lys588Met)
c.1865A>T (p.Lys622Met)
c.1898A>T (p.Lys633Met)
c.1805A>T (p.Lys602Met)
c.1157A>T (p.Lys386Met)
c.1466A>T (p.Lys489Met)
c.830A>T (p.Lys277Met)
3g.10359885T>CCA351781143ATP2B2c.1763A>G (p.Lys588Arg)
c.1865A>G (p.Lys622Arg)
c.1898A>G (p.Lys633Arg)
c.1805A>G (p.Lys602Arg)
c.1157A>G (p.Lys386Arg)
c.1466A>G (p.Lys489Arg)
c.830A>G (p.Lys277Arg)
3g.10359885T>GCA351781144ATP2B2c.1763A>C (p.Lys588Thr)
c.1865A>C (p.Lys622Thr)
c.1898A>C (p.Lys633Thr)
c.1805A>C (p.Lys602Thr)
c.1157A>C (p.Lys386Thr)
c.1466A>C (p.Lys489Thr)
c.830A>C (p.Lys277Thr)
3g.10359886T>ACA351781145ATP2B2c.1762A>T (p.Lys588Ter)
c.1864A>T (p.Lys622Ter)
c.1897A>T (p.Lys633Ter)
c.1804A>T (p.Lys602Ter)
c.1156A>T (p.Lys386Ter)
c.1465A>T (p.Lys489Ter)
c.829A>T (p.Lys277Ter)
3g.10359886T>CCA351781146ATP2B2c.1762A>G (p.Lys588Glu)
c.1864A>G (p.Lys622Glu)
c.1897A>G (p.Lys633Glu)
c.1804A>G (p.Lys602Glu)
c.1156A>G (p.Lys386Glu)
c.1465A>G (p.Lys489Glu)
c.829A>G (p.Lys277Glu)
3g.10359886T>GCA351781147ATP2B2c.1762A>C (p.Lys588Gln)
c.1864A>C (p.Lys622Gln)
c.1897A>C (p.Lys633Gln)
c.1804A>C (p.Lys602Gln)
c.1156A>C (p.Lys386Gln)
c.1465A>C (p.Lys489Gln)
c.829A>C (p.Lys277Gln)
 gnomAD v4
3g.10359886_10359887insTTTTTTAATGATACGGCCA2755201438ATP2B2c.1761_1762insGCCGTATCATTAAAAAA (p.Lys588AlafsTer31)
c.1863_1864insGCCGTATCATTAAAAAA (p.Lys622AlafsTer31)
c.1896_1897insGCCGTATCATTAAAAAA (p.Lys633AlafsTer31)
c.1803_1804insGCCGTATCATTAAAAAA (p.Lys602AlafsTer31)
c.1155_1156insGCCGTATCATTAAAAAA (p.Lys386AlafsTer31)
c.1464_1465insGCCGTATCATTAAAAAA (p.Lys489AlafsTer31)
c.828_829insGCCGTATCATTAAAAAA (p.Lys277AlafsTer31)
3g.10359887G>ACA432537771ATP2B2c.1761C>T (p.Leu587=)
c.1863C>T (p.Leu621=)
c.1896C>T (p.Leu632=)
c.1803C>T (p.Leu601=)
c.1155C>T (p.Leu385=)
c.1464C>T (p.Leu488=)
c.828C>T (p.Leu276=)
 gnomAD v4
3g.10359887G>CCA432537772ATP2B2c.1761C>G (p.Leu587=)
c.1863C>G (p.Leu621=)
c.1896C>G (p.Leu632=)
c.1803C>G (p.Leu601=)
c.1155C>G (p.Leu385=)
c.1464C>G (p.Leu488=)
c.828C>G (p.Leu276=)
3g.10359887G>TCA432537774ATP2B2c.1761C>A (p.Leu587=)
c.1863C>A (p.Leu621=)
c.1896C>A (p.Leu632=)
c.1803C>A (p.Leu601=)
c.1155C>A (p.Leu385=)
c.1464C>A (p.Leu488=)
c.828C>A (p.Leu276=)
 gnomAD v4
3g.10359888A>CCA351781148ATP2B2c.1760T>G (p.Leu587Arg)
c.1862T>G (p.Leu621Arg)
c.1895T>G (p.Leu632Arg)
c.1802T>G (p.Leu601Arg)
c.1154T>G (p.Leu385Arg)
c.1463T>G (p.Leu488Arg)
c.827T>G (p.Leu276Arg)
3g.10359888A>GCA351781149ATP2B2c.1760T>C (p.Leu587Pro)
c.1862T>C (p.Leu621Pro)
c.1895T>C (p.Leu632Pro)
c.1802T>C (p.Leu601Pro)
c.1154T>C (p.Leu385Pro)
c.1463T>C (p.Leu488Pro)
c.827T>C (p.Leu276Pro)
3g.10359888A>TCA351781150ATP2B2c.1760T>A (p.Leu587His)
c.1862T>A (p.Leu621His)
c.1895T>A (p.Leu632His)
c.1802T>A (p.Leu601His)
c.1154T>A (p.Leu385His)
c.1463T>A (p.Leu488His)
c.827T>A (p.Leu276His)
3g.10359889G>ACA351781153ATP2B2c.1759C>T (p.Leu587Phe)
c.1861C>T (p.Leu621Phe)
c.1894C>T (p.Leu632Phe)
c.1801C>T (p.Leu601Phe)
c.1153C>T (p.Leu385Phe)
c.1462C>T (p.Leu488Phe)
c.826C>T (p.Leu276Phe)
 dbSNP
3g.10359889G>CCA351781152ATP2B2c.1759C>G (p.Leu587Val)
c.1861C>G (p.Leu621Val)
c.1894C>G (p.Leu632Val)
c.1801C>G (p.Leu601Val)
c.1153C>G (p.Leu385Val)
c.1462C>G (p.Leu488Val)
c.826C>G (p.Leu276Val)
3g.10359889G=CA1345191655ATP2B2c.1759C= (p.Leu587=)
c.1861C= (p.Leu621=)
c.1894C= (p.Leu632=)
c.1801C= (p.Leu601=)
c.1153C= (p.Leu385=)
c.1462C= (p.Leu488=)
c.826C= (p.Leu276=)
3g.10359889G>TCA351781151ATP2B2c.1759C>A (p.Leu587Ile)
c.1861C>A (p.Leu621Ile)
c.1894C>A (p.Leu632Ile)
c.1801C>A (p.Leu601Ile)
c.1153C>A (p.Leu385Ile)
c.1462C>A (p.Leu488Ile)
c.826C>A (p.Leu276Ile)
3g.10359890C>ACA432537776ATP2B2c.1758G>T (p.Val586=)
c.1860G>T (p.Val620=)
c.1893G>T (p.Val631=)
c.1800G>T (p.Val600=)
c.1152G>T (p.Val384=)
c.1461G>T (p.Val487=)
c.825G>T (p.Val275=)
 dbSNP
3g.10359890C=CA1345191657ATP2B2c.1758G= (p.Val586=)
c.1860G= (p.Val620=)
c.1893G= (p.Val631=)
c.1800G= (p.Val600=)
c.1152G= (p.Val384=)
c.1461G= (p.Val487=)
c.825G= (p.Val275=)
3g.10359890C>GCA432537779ATP2B2c.1758G>C (p.Val586=)
c.1860G>C (p.Val620=)
c.1893G>C (p.Val631=)
c.1800G>C (p.Val600=)
c.1152G>C (p.Val384=)
c.1461G>C (p.Val487=)
c.825G>C (p.Val275=)
3g.10359890C>TCA432537777ATP2B2c.1758G>A (p.Val586=)
c.1860G>A (p.Val620=)
c.1893G>A (p.Val631=)
c.1800G>A (p.Val600=)
c.1152G>A (p.Val384=)
c.1461G>A (p.Val487=)
c.825G>A (p.Val275=)
3g.10359891A>CCA351781154ATP2B2c.1757T>G (p.Val586Gly)
c.1859T>G (p.Val620Gly)
c.1892T>G (p.Val631Gly)
c.1799T>G (p.Val600Gly)
c.1151T>G (p.Val384Gly)
c.1460T>G (p.Val487Gly)
c.824T>G (p.Val275Gly)
3g.10359891A>GCA351781156ATP2B2c.1757T>C (p.Val586Ala)
c.1859T>C (p.Val620Ala)
c.1892T>C (p.Val631Ala)
c.1799T>C (p.Val600Ala)
c.1151T>C (p.Val384Ala)
c.1460T>C (p.Val487Ala)
c.824T>C (p.Val275Ala)
3g.10359891A>TCA351781155ATP2B2c.1757T>A (p.Val586Glu)
c.1859T>A (p.Val620Glu)
c.1892T>A (p.Val631Glu)
c.1799T>A (p.Val600Glu)
c.1151T>A (p.Val384Glu)
c.1460T>A (p.Val487Glu)
c.824T>A (p.Val275Glu)
3g.10359892C>ACA2253561ATP2B2c.1756G>T (p.Val586Leu)
c.1858G>T (p.Val620Leu)
c.1891G>T (p.Val631Leu)
c.1798G>T (p.Val600Leu)
c.1150G>T (p.Val384Leu)
c.1459G>T (p.Val487Leu)
c.823G>T (p.Val275Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359892C=CA1345191661ATP2B2c.1756G= (p.Val586=)
c.1858G= (p.Val620=)
c.1891G= (p.Val631=)
c.1798G= (p.Val600=)
c.1150G= (p.Val384=)
c.1459G= (p.Val487=)
c.823G= (p.Val275=)
3g.10359892C>GCA351781157ATP2B2c.1756G>C (p.Val586Leu)
c.1858G>C (p.Val620Leu)
c.1891G>C (p.Val631Leu)
c.1798G>C (p.Val600Leu)
c.1150G>C (p.Val384Leu)
c.1459G>C (p.Val487Leu)
c.823G>C (p.Val275Leu)
3g.10359892C>TCA127431ATP2B2c.1756G>A (p.Val586Met)
c.1858G>A (p.Val620Met)
c.1891G>A (p.Val631Met)
c.1798G>A (p.Val600Met)
c.1150G>A (p.Val384Met)
c.1459G>A (p.Val487Met)
c.823G>A (p.Val275Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359892_10359893insCGACA2755201439ATP2B2c.1755_1756insTCG (p.Ile585_Val586insSer)
c.1857_1858insTCG (p.Ile619_Val620insSer)
c.1890_1891insTCG (p.Ile630_Val631insSer)
c.1797_1798insTCG (p.Ile599_Val600insSer)
c.1149_1150insTCG (p.Ile383_Val384insSer)
c.1458_1459insTCG (p.Ile486_Val487insSer)
c.822_823insTCG (p.Ile274_Val275insSer)
3g.10359893G>ACA2253562ATP2B2c.1755C>T (p.Ile585=)
c.1857C>T (p.Ile619=)
c.1890C>T (p.Ile630=)
c.1797C>T (p.Ile599=)
c.1149C>T (p.Ile383=)
c.1458C>T (p.Ile486=)
c.822C>T (p.Ile274=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359893G>CCA351781158ATP2B2c.1755C>G (p.Ile585Met)
c.1857C>G (p.Ile619Met)
c.1890C>G (p.Ile630Met)
c.1797C>G (p.Ile599Met)
c.1149C>G (p.Ile383Met)
c.1458C>G (p.Ile486Met)
c.822C>G (p.Ile274Met)
3g.10359893G=CA1345191667ATP2B2c.1755C= (p.Ile585=)
c.1857C= (p.Ile619=)
c.1890C= (p.Ile630=)
c.1797C= (p.Ile599=)
c.1149C= (p.Ile383=)
c.1458C= (p.Ile486=)
c.822C= (p.Ile274=)
3g.10359893G>TCA2253563ATP2B2c.1755C>A (p.Ile585=)
c.1857C>A (p.Ile619=)
c.1890C>A (p.Ile630=)
c.1797C>A (p.Ile599=)
c.1149C>A (p.Ile383=)
c.1458C>A (p.Ile486=)
c.822C>A (p.Ile274=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359894A>CCA351781159ATP2B2c.1754T>G (p.Ile585Ser)
c.1856T>G (p.Ile619Ser)
c.1889T>G (p.Ile630Ser)
c.1796T>G (p.Ile599Ser)
c.1148T>G (p.Ile383Ser)
c.1457T>G (p.Ile486Ser)
c.821T>G (p.Ile274Ser)
3g.10359894A>GCA351781160ATP2B2c.1754T>C (p.Ile585Thr)
c.1856T>C (p.Ile619Thr)
c.1889T>C (p.Ile630Thr)
c.1796T>C (p.Ile599Thr)
c.1148T>C (p.Ile383Thr)
c.1457T>C (p.Ile486Thr)
c.821T>C (p.Ile274Thr)
3g.10359894A>TCA351781161ATP2B2c.1754T>A (p.Ile585Asn)
c.1856T>A (p.Ile619Asn)
c.1889T>A (p.Ile630Asn)
c.1796T>A (p.Ile599Asn)
c.1148T>A (p.Ile383Asn)
c.1457T>A (p.Ile486Asn)
c.821T>A (p.Ile274Asn)
3g.10359895T>ACA351781162ATP2B2c.1753A>T (p.Ile585Phe)
c.1855A>T (p.Ile619Phe)
c.1888A>T (p.Ile630Phe)
c.1795A>T (p.Ile599Phe)
c.1147A>T (p.Ile383Phe)
c.1456A>T (p.Ile486Phe)
c.820A>T (p.Ile274Phe)
3g.10359895T>CCA2253564ATP2B2c.1753A>G (p.Ile585Val)
c.1855A>G (p.Ile619Val)
c.1888A>G (p.Ile630Val)
c.1795A>G (p.Ile599Val)
c.1147A>G (p.Ile383Val)
c.1456A>G (p.Ile486Val)
c.820A>G (p.Ile274Val)
 dbSNP ExAC
3g.10359895T>GCA351781163ATP2B2c.1753A>C (p.Ile585Leu)
c.1855A>C (p.Ile619Leu)
c.1888A>C (p.Ile630Leu)
c.1795A>C (p.Ile599Leu)
c.1147A>C (p.Ile383Leu)
c.1456A>C (p.Ile486Leu)
c.820A>C (p.Ile274Leu)
3g.10359895T=CA1345191676ATP2B2c.1753A= (p.Ile585=)
c.1855A= (p.Ile619=)
c.1888A= (p.Ile630=)
c.1795A= (p.Ile599=)
c.1147A= (p.Ile383=)
c.1456A= (p.Ile486=)
c.820A= (p.Ile274=)
3g.10359896C>ACA351781164ATP2B2c.1752G>T (p.Glu584Asp)
c.1854G>T (p.Glu618Asp)
c.1887G>T (p.Glu629Asp)
c.1794G>T (p.Glu598Asp)
c.1146G>T (p.Glu382Asp)
c.1455G>T (p.Glu485Asp)
c.819G>T (p.Glu273Asp)
3g.10359896C=CA1345191680ATP2B2c.1752G= (p.Glu584=)
c.1854G= (p.Glu618=)
c.1887G= (p.Glu629=)
c.1794G= (p.Glu598=)
c.1146G= (p.Glu382=)
c.1455G= (p.Glu485=)
c.819G= (p.Glu273=)
3g.10359896C>GCA351781165ATP2B2c.1752G>C (p.Glu584Asp)
c.1854G>C (p.Glu618Asp)
c.1887G>C (p.Glu629Asp)
c.1794G>C (p.Glu598Asp)
c.1146G>C (p.Glu382Asp)
c.1455G>C (p.Glu485Asp)
c.819G>C (p.Glu273Asp)
3g.10359896C>TCA432537785ATP2B2c.1752G>A (p.Glu584=)
c.1854G>A (p.Glu618=)
c.1887G>A (p.Glu629=)
c.1794G>A (p.Glu598=)
c.1146G>A (p.Glu382=)
c.1455G>A (p.Glu485=)
c.819G>A (p.Glu273=)
 dbSNP gnomAD v2 gnomAD v4
3g.10359897T>ACA351781166ATP2B2c.1751A>T (p.Glu584Val)
c.1853A>T (p.Glu618Val)
c.1886A>T (p.Glu629Val)
c.1793A>T (p.Glu598Val)
c.1145A>T (p.Glu382Val)
c.1454A>T (p.Glu485Val)
c.818A>T (p.Glu273Val)
3g.10359897T>CCA351781167ATP2B2c.1751A>G (p.Glu584Gly)
c.1853A>G (p.Glu618Gly)
c.1886A>G (p.Glu629Gly)
c.1793A>G (p.Glu598Gly)
c.1145A>G (p.Glu382Gly)
c.1454A>G (p.Glu485Gly)
c.818A>G (p.Glu273Gly)
3g.10359897T>GCA351781168ATP2B2c.1751A>C (p.Glu584Ala)
c.1853A>C (p.Glu618Ala)
c.1886A>C (p.Glu629Ala)
c.1793A>C (p.Glu598Ala)
c.1145A>C (p.Glu382Ala)
c.1454A>C (p.Glu485Ala)
c.818A>C (p.Glu273Ala)
3g.10359897_10359898insACA2755201440ATP2B2c.1750_1751insT (p.Glu584ValfsTer?)
c.1852_1853insT (p.Glu618ValfsTer?)
c.1885_1886insT (p.Glu629ValfsTer?)
c.1792_1793insT (p.Glu598ValfsTer?)
c.1144_1145insT (p.Glu382ValfsTer?)
c.1453_1454insT (p.Glu485ValfsTer?)
c.817_818insT (p.Glu273ValfsTer?)
3g.10359898C>ACA351781169ATP2B2c.1750G>T (p.Glu584Ter)
c.1852G>T (p.Glu618Ter)
c.1885G>T (p.Glu629Ter)
c.1792G>T (p.Glu598Ter)
c.1144G>T (p.Glu382Ter)
c.1453G>T (p.Glu485Ter)
c.817G>T (p.Glu273Ter)
3g.10359898C>GCA351781170ATP2B2c.1750G>C (p.Glu584Gln)
c.1852G>C (p.Glu618Gln)
c.1885G>C (p.Glu629Gln)
c.1792G>C (p.Glu598Gln)
c.1144G>C (p.Glu382Gln)
c.1453G>C (p.Glu485Gln)
c.817G>C (p.Glu273Gln)
3g.10359898C>TCA351781171ATP2B2c.1750G>A (p.Glu584Lys)
c.1852G>A (p.Glu618Lys)
c.1885G>A (p.Glu629Lys)
c.1792G>A (p.Glu598Lys)
c.1144G>A (p.Glu382Lys)
c.1453G>A (p.Glu485Lys)
c.817G>A (p.Glu273Lys)
3g.10359899A>CCA432537787ATP2B2c.1749T>G (p.Ser583=)
c.1851T>G (p.Ser617=)
c.1884T>G (p.Ser628=)
c.1791T>G (p.Ser597=)
c.1143T>G (p.Ser381=)
c.1452T>G (p.Ser484=)
c.816T>G (p.Ser272=)
3g.10359899A>GCA432537788ATP2B2c.1749T>C (p.Ser583=)
c.1851T>C (p.Ser617=)
c.1884T>C (p.Ser628=)
c.1791T>C (p.Ser597=)
c.1143T>C (p.Ser381=)
c.1452T>C (p.Ser484=)
c.816T>C (p.Ser272=)
3g.10359899A>TCA432537789ATP2B2c.1749T>A (p.Ser583=)
c.1851T>A (p.Ser617=)
c.1884T>A (p.Ser628=)
c.1791T>A (p.Ser597=)
c.1143T>A (p.Ser381=)
c.1452T>A (p.Ser484=)
c.816T>A (p.Ser272=)
3g.10359900G>ACA351781172ATP2B2c.1748C>T (p.Ser583Phe)
c.1850C>T (p.Ser617Phe)
c.1883C>T (p.Ser628Phe)
c.1790C>T (p.Ser597Phe)
c.1142C>T (p.Ser381Phe)
c.1451C>T (p.Ser484Phe)
c.815C>T (p.Ser272Phe)
3g.10359900G>CCA351781173ATP2B2c.1748C>G (p.Ser583Cys)
c.1850C>G (p.Ser617Cys)
c.1883C>G (p.Ser628Cys)
c.1790C>G (p.Ser597Cys)
c.1142C>G (p.Ser381Cys)
c.1451C>G (p.Ser484Cys)
c.815C>G (p.Ser272Cys)
 gnomAD v4
3g.10359900G>TCA351781174ATP2B2c.1748C>A (p.Ser583Tyr)
c.1850C>A (p.Ser617Tyr)
c.1883C>A (p.Ser628Tyr)
c.1790C>A (p.Ser597Tyr)
c.1142C>A (p.Ser381Tyr)
c.1451C>A (p.Ser484Tyr)
c.815C>A (p.Ser272Tyr)
3g.10359900_10359906delCA2755201441ATP2B2c.1742_1748del (p.Gly581ValfsTer30)
c.1844_1850del (p.Gly615ValfsTer30)
c.1877_1883del (p.Gly626ValfsTer30)
c.1784_1790del (p.Gly595ValfsTer30)
c.1136_1142del (p.Gly379ValfsTer30)
c.1445_1451del (p.Gly482ValfsTer30)
c.809_815del (p.Gly270ValfsTer30)
3g.10359901A>CCA351781175ATP2B2c.1747T>G (p.Ser583Ala)
c.1849T>G (p.Ser617Ala)
c.1882T>G (p.Ser628Ala)
c.1789T>G (p.Ser597Ala)
c.1141T>G (p.Ser381Ala)
c.1450T>G (p.Ser484Ala)
c.814T>G (p.Ser272Ala)
3g.10359901A>GCA351781176ATP2B2c.1747T>C (p.Ser583Pro)
c.1849T>C (p.Ser617Pro)
c.1882T>C (p.Ser628Pro)
c.1789T>C (p.Ser597Pro)
c.1141T>C (p.Ser381Pro)
c.1450T>C (p.Ser484Pro)
c.814T>C (p.Ser272Pro)
3g.10359901A>TCA351781177ATP2B2c.1747T>A (p.Ser583Thr)
c.1849T>A (p.Ser617Thr)
c.1882T>A (p.Ser628Thr)
c.1789T>A (p.Ser597Thr)
c.1141T>A (p.Ser381Thr)
c.1450T>A (p.Ser484Thr)
c.814T>A (p.Ser272Thr)
3g.10359902A>CCA432537792ATP2B2c.1746T>G (p.Ala582=)
c.1848T>G (p.Ala616=)
c.1881T>G (p.Ala627=)
c.1788T>G (p.Ala596=)
c.1140T>G (p.Ala380=)
c.1449T>G (p.Ala483=)
c.813T>G (p.Ala271=)
3g.10359902A>GCA432537802ATP2B2c.1746T>C (p.Ala582=)
c.1848T>C (p.Ala616=)
c.1881T>C (p.Ala627=)
c.1788T>C (p.Ala596=)
c.1140T>C (p.Ala380=)
c.1449T>C (p.Ala483=)
c.813T>C (p.Ala271=)
3g.10359902A>TCA432537804ATP2B2c.1746T>A (p.Ala582=)
c.1848T>A (p.Ala616=)
c.1881T>A (p.Ala627=)
c.1788T>A (p.Ala596=)
c.1140T>A (p.Ala380=)
c.1449T>A (p.Ala483=)
c.813T>A (p.Ala271=)
3g.10359903G>ACA351781178ATP2B2c.1745C>T (p.Ala582Val)
c.1847C>T (p.Ala616Val)
c.1880C>T (p.Ala627Val)
c.1787C>T (p.Ala596Val)
c.1139C>T (p.Ala380Val)
c.1448C>T (p.Ala483Val)
c.812C>T (p.Ala271Val)
3g.10359903G>CCA351781180ATP2B2c.1745C>G (p.Ala582Gly)
c.1847C>G (p.Ala616Gly)
c.1880C>G (p.Ala627Gly)
c.1787C>G (p.Ala596Gly)
c.1139C>G (p.Ala380Gly)
c.1448C>G (p.Ala483Gly)
c.812C>G (p.Ala271Gly)
3g.10359903G>TCA351781179ATP2B2c.1745C>A (p.Ala582Asp)
c.1847C>A (p.Ala616Asp)
c.1880C>A (p.Ala627Asp)
c.1787C>A (p.Ala596Asp)
c.1139C>A (p.Ala380Asp)
c.1448C>A (p.Ala483Asp)
c.812C>A (p.Ala271Asp)
3g.10359904C>ACA351781181ATP2B2c.1744G>T (p.Ala582Ser)
c.1846G>T (p.Ala616Ser)
c.1879G>T (p.Ala627Ser)
c.1786G>T (p.Ala596Ser)
c.1138G>T (p.Ala380Ser)
c.1447G>T (p.Ala483Ser)
c.811G>T (p.Ala271Ser)
3g.10359904C>GCA351781183ATP2B2c.1744G>C (p.Ala582Pro)
c.1846G>C (p.Ala616Pro)
c.1879G>C (p.Ala627Pro)
c.1786G>C (p.Ala596Pro)
c.1138G>C (p.Ala380Pro)
c.1447G>C (p.Ala483Pro)
c.811G>C (p.Ala271Pro)
3g.10359904C>TCA351781182ATP2B2c.1744G>A (p.Ala582Thr)
c.1846G>A (p.Ala616Thr)
c.1879G>A (p.Ala627Thr)
c.1786G>A (p.Ala596Thr)
c.1138G>A (p.Ala380Thr)
c.1447G>A (p.Ala483Thr)
c.811G>A (p.Ala271Thr)
3g.10359905C>ACA432537807ATP2B2c.1743G>T (p.Gly581=)
c.1845G>T (p.Gly615=)
c.1878G>T (p.Gly626=)
c.1785G>T (p.Gly595=)
c.1137G>T (p.Gly379=)
c.1446G>T (p.Gly482=)
c.810G>T (p.Gly270=)
3g.10359905C>GCA432537808ATP2B2c.1743G>C (p.Gly581=)
c.1845G>C (p.Gly615=)
c.1878G>C (p.Gly626=)
c.1785G>C (p.Gly595=)
c.1137G>C (p.Gly379=)
c.1446G>C (p.Gly482=)
c.810G>C (p.Gly270=)
3g.10359905C>TCA432537809ATP2B2c.1743G>A (p.Gly581=)
c.1845G>A (p.Gly615=)
c.1878G>A (p.Gly626=)
c.1785G>A (p.Gly595=)
c.1137G>A (p.Gly379=)
c.1446G>A (p.Gly482=)
c.810G>A (p.Gly270=)
3g.10359906C>ACA351781184ATP2B2c.1742G>T (p.Gly581Val)
c.1844G>T (p.Gly615Val)
c.1877G>T (p.Gly626Val)
c.1784G>T (p.Gly595Val)
c.1136G>T (p.Gly379Val)
c.1445G>T (p.Gly482Val)
c.809G>T (p.Gly270Val)
3g.10359906C>GCA351781185ATP2B2c.1742G>C (p.Gly581Ala)
c.1844G>C (p.Gly615Ala)
c.1877G>C (p.Gly626Ala)
c.1784G>C (p.Gly595Ala)
c.1136G>C (p.Gly379Ala)
c.1445G>C (p.Gly482Ala)
c.809G>C (p.Gly270Ala)
3g.10359906C>TCA351781186ATP2B2c.1742G>A (p.Gly581Glu)
c.1844G>A (p.Gly615Glu)
c.1877G>A (p.Gly626Glu)
c.1784G>A (p.Gly595Glu)
c.1136G>A (p.Gly379Glu)
c.1445G>A (p.Gly482Glu)
c.809G>A (p.Gly270Glu)
3g.10359907C>ACA351781187ATP2B2c.1741G>T (p.Gly581Trp)
c.1843G>T (p.Gly615Trp)
c.1876G>T (p.Gly626Trp)
c.1783G>T (p.Gly595Trp)
c.1135G>T (p.Gly379Trp)
c.1444G>T (p.Gly482Trp)
c.808G>T (p.Gly270Trp)
3g.10359907C>GCA351781188ATP2B2c.1741G>C (p.Gly581Arg)
c.1843G>C (p.Gly615Arg)
c.1876G>C (p.Gly626Arg)
c.1783G>C (p.Gly595Arg)
c.1135G>C (p.Gly379Arg)
c.1444G>C (p.Gly482Arg)
c.808G>C (p.Gly270Arg)
3g.10359907C>TCA351781189ATP2B2c.1741G>A (p.Gly581Arg)
c.1843G>A (p.Gly615Arg)
c.1876G>A (p.Gly626Arg)
c.1783G>A (p.Gly595Arg)
c.1135G>A (p.Gly379Arg)
c.1444G>A (p.Gly482Arg)
c.808G>A (p.Gly270Arg)
 COSMIC COSMIC
3g.10359907_10359908insATCA2755201442ATP2B2c.1740_1741insAT (p.Gly581MetfsTer?)
c.1842_1843insAT (p.Gly615MetfsTer?)
c.1875_1876insAT (p.Gly626MetfsTer?)
c.1782_1783insAT (p.Gly595MetfsTer?)
c.1134_1135insAT (p.Gly379MetfsTer?)
c.1443_1444insAT (p.Gly482MetfsTer?)
c.807_808insAT (p.Gly270MetfsTer?)
3g.10359908C>ACA351781190ATP2B2c.1740G>T (p.Lys580Asn)
c.1842G>T (p.Lys614Asn)
c.1875G>T (p.Lys625Asn)
c.1782G>T (p.Lys594Asn)
c.1134G>T (p.Lys378Asn)
c.1443G>T (p.Lys481Asn)
c.807G>T (p.Lys269Asn)
3g.10359908C>GCA351781191ATP2B2c.1740G>C (p.Lys580Asn)
c.1842G>C (p.Lys614Asn)
c.1875G>C (p.Lys625Asn)
c.1782G>C (p.Lys594Asn)
c.1134G>C (p.Lys378Asn)
c.1443G>C (p.Lys481Asn)
c.807G>C (p.Lys269Asn)
3g.10359908C>TCA432537813ATP2B2c.1740G>A (p.Lys580=)
c.1842G>A (p.Lys614=)
c.1875G>A (p.Lys625=)
c.1782G>A (p.Lys594=)
c.1134G>A (p.Lys378=)
c.1443G>A (p.Lys481=)
c.807G>A (p.Lys269=)
3g.10359909T>ACA351781192ATP2B2c.1739A>T (p.Lys580Met)
c.1841A>T (p.Lys614Met)
c.1874A>T (p.Lys625Met)
c.1781A>T (p.Lys594Met)
c.1133A>T (p.Lys378Met)
c.1442A>T (p.Lys481Met)
c.806A>T (p.Lys269Met)
3g.10359909T>CCA351781193ATP2B2c.1739A>G (p.Lys580Arg)
c.1841A>G (p.Lys614Arg)
c.1874A>G (p.Lys625Arg)
c.1781A>G (p.Lys594Arg)
c.1133A>G (p.Lys378Arg)
c.1442A>G (p.Lys481Arg)
c.806A>G (p.Lys269Arg)
3g.10359909T>GCA351781194ATP2B2c.1739A>C (p.Lys580Thr)
c.1841A>C (p.Lys614Thr)
c.1874A>C (p.Lys625Thr)
c.1781A>C (p.Lys594Thr)
c.1133A>C (p.Lys378Thr)
c.1442A>C (p.Lys481Thr)
c.806A>C (p.Lys269Thr)
3g.10359910T>ACA351781197ATP2B2c.1738A>T (p.Lys580Ter)
c.1840A>T (p.Lys614Ter)
c.1873A>T (p.Lys625Ter)
c.1780A>T (p.Lys594Ter)
c.1132A>T (p.Lys378Ter)
c.1441A>T (p.Lys481Ter)
c.805A>T (p.Lys269Ter)
3g.10359910T>CCA351781195ATP2B2c.1738A>G (p.Lys580Glu)
c.1840A>G (p.Lys614Glu)
c.1873A>G (p.Lys625Glu)
c.1780A>G (p.Lys594Glu)
c.1132A>G (p.Lys378Glu)
c.1441A>G (p.Lys481Glu)
c.805A>G (p.Lys269Glu)
3g.10359910T>GCA351781196ATP2B2c.1738A>C (p.Lys580Gln)
c.1840A>C (p.Lys614Gln)
c.1873A>C (p.Lys625Gln)
c.1780A>C (p.Lys594Gln)
c.1132A>C (p.Lys378Gln)
c.1441A>C (p.Lys481Gln)
c.805A>C (p.Lys269Gln)
3g.10359911G>ACA432537814ATP2B2c.1737C>T (p.Ser579=)
c.1839C>T (p.Ser613=)
c.1872C>T (p.Ser624=)
c.1779C>T (p.Ser593=)
c.1131C>T (p.Ser377=)
c.1440C>T (p.Ser480=)
c.804C>T (p.Ser268=)
3g.10359911G>CCA351781198ATP2B2c.1737C>G (p.Ser579Arg)
c.1839C>G (p.Ser613Arg)
c.1872C>G (p.Ser624Arg)
c.1779C>G (p.Ser593Arg)
c.1131C>G (p.Ser377Arg)
c.1440C>G (p.Ser480Arg)
c.804C>G (p.Ser268Arg)
 gnomAD v4
3g.10359911G>TCA351781199ATP2B2c.1737C>A (p.Ser579Arg)
c.1839C>A (p.Ser613Arg)
c.1872C>A (p.Ser624Arg)
c.1779C>A (p.Ser593Arg)
c.1131C>A (p.Ser377Arg)
c.1440C>A (p.Ser480Arg)
c.804C>A (p.Ser268Arg)
3g.10359911_10359926delCA2755201443ATP2B2c.1722_1737del (p.Ser574ArgfsTer?)
c.1824_1839del (p.Ser608ArgfsTer?)
c.1857_1872del (p.Ser619ArgfsTer?)
c.1764_1779del (p.Ser588ArgfsTer?)
c.1116_1131del (p.Ser372ArgfsTer?)
c.1425_1440del (p.Ser475ArgfsTer?)
c.789_804del (p.Ser263ArgfsTer?)
3g.10359912C>ACA351781200ATP2B2c.1736G>T (p.Ser579Ile)
c.1838G>T (p.Ser613Ile)
c.1871G>T (p.Ser624Ile)
c.1778G>T (p.Ser593Ile)
c.1130G>T (p.Ser377Ile)
c.1439G>T (p.Ser480Ile)
c.803G>T (p.Ser268Ile)
3g.10359912C=CA1345191686ATP2B2c.1736G= (p.Ser579=)
c.1838G= (p.Ser613=)
c.1871G= (p.Ser624=)
c.1778G= (p.Ser593=)
c.1130G= (p.Ser377=)
c.1439G= (p.Ser480=)
c.803G= (p.Ser268=)
3g.10359912C>GCA351781201ATP2B2c.1736G>C (p.Ser579Thr)
c.1838G>C (p.Ser613Thr)
c.1871G>C (p.Ser624Thr)
c.1778G>C (p.Ser593Thr)
c.1130G>C (p.Ser377Thr)
c.1439G>C (p.Ser480Thr)
c.803G>C (p.Ser268Thr)
3g.10359912C>TCA70099868ATP2B2c.1736G>A (p.Ser579Asn)
c.1838G>A (p.Ser613Asn)
c.1871G>A (p.Ser624Asn)
c.1778G>A (p.Ser593Asn)
c.1130G>A (p.Ser377Asn)
c.1439G>A (p.Ser480Asn)
c.803G>A (p.Ser268Asn)
 dbSNP
3g.10359913T>ACA351781202ATP2B2c.1735A>T (p.Ser579Cys)
c.1837A>T (p.Ser613Cys)
c.1870A>T (p.Ser624Cys)
c.1777A>T (p.Ser593Cys)
c.1129A>T (p.Ser377Cys)
c.1438A>T (p.Ser480Cys)
c.802A>T (p.Ser268Cys)
3g.10359913T>CCA351781203ATP2B2c.1735A>G (p.Ser579Gly)
c.1837A>G (p.Ser613Gly)
c.1870A>G (p.Ser624Gly)
c.1777A>G (p.Ser593Gly)
c.1129A>G (p.Ser377Gly)
c.1438A>G (p.Ser480Gly)
c.802A>G (p.Ser268Gly)
3g.10359913T>GCA351781204ATP2B2c.1735A>C (p.Ser579Arg)
c.1837A>C (p.Ser613Arg)
c.1870A>C (p.Ser624Arg)
c.1777A>C (p.Ser593Arg)
c.1129A>C (p.Ser377Arg)
c.1438A>C (p.Ser480Arg)
c.802A>C (p.Ser268Arg)
3g.10359914G>ACA432537817ATP2B2c.1734C>T (p.Tyr578=)
c.1836C>T (p.Tyr612=)
c.1869C>T (p.Tyr623=)
c.1776C>T (p.Tyr592=)
c.1128C>T (p.Tyr376=)
c.1437C>T (p.Tyr479=)
c.801C>T (p.Tyr267=)
 gnomAD v4
3g.10359914G>CCA351781205ATP2B2c.1734C>G (p.Tyr578Ter)
c.1836C>G (p.Tyr612Ter)
c.1869C>G (p.Tyr623Ter)
c.1776C>G (p.Tyr592Ter)
c.1128C>G (p.Tyr376Ter)
c.1437C>G (p.Tyr479Ter)
c.801C>G (p.Tyr267Ter)
3g.10359914G>TCA351781206ATP2B2c.1734C>A (p.Tyr578Ter)
c.1836C>A (p.Tyr612Ter)
c.1869C>A (p.Tyr623Ter)
c.1776C>A (p.Tyr592Ter)
c.1128C>A (p.Tyr376Ter)
c.1437C>A (p.Tyr479Ter)
c.801C>A (p.Tyr267Ter)
3g.10359915T>ACA351781208ATP2B2c.1733A>T (p.Tyr578Phe)
c.1835A>T (p.Tyr612Phe)
c.1868A>T (p.Tyr623Phe)
c.1775A>T (p.Tyr592Phe)
c.1127A>T (p.Tyr376Phe)
c.1436A>T (p.Tyr479Phe)
c.800A>T (p.Tyr267Phe)
 gnomAD v4
3g.10359915T>CCA351781209ATP2B2c.1733A>G (p.Tyr578Cys)
c.1835A>G (p.Tyr612Cys)
c.1868A>G (p.Tyr623Cys)
c.1775A>G (p.Tyr592Cys)
c.1127A>G (p.Tyr376Cys)
c.1436A>G (p.Tyr479Cys)
c.800A>G (p.Tyr267Cys)
3g.10359915T>GCA351781207ATP2B2c.1733A>C (p.Tyr578Ser)
c.1835A>C (p.Tyr612Ser)
c.1868A>C (p.Tyr623Ser)
c.1775A>C (p.Tyr592Ser)
c.1127A>C (p.Tyr376Ser)
c.1436A>C (p.Tyr479Ser)
c.800A>C (p.Tyr267Ser)
3g.10359916A>CCA351781210ATP2B2c.1732T>G (p.Tyr578Asp)
c.1834T>G (p.Tyr612Asp)
c.1867T>G (p.Tyr623Asp)
c.1774T>G (p.Tyr592Asp)
c.1126T>G (p.Tyr376Asp)
c.1435T>G (p.Tyr479Asp)
c.799T>G (p.Tyr267Asp)
3g.10359916A>GCA351781211ATP2B2c.1732T>C (p.Tyr578His)
c.1834T>C (p.Tyr612His)
c.1867T>C (p.Tyr623His)
c.1774T>C (p.Tyr592His)
c.1126T>C (p.Tyr376His)
c.1435T>C (p.Tyr479His)
c.799T>C (p.Tyr267His)
3g.10359916A>TCA351781212ATP2B2c.1732T>A (p.Tyr578Asn)
c.1834T>A (p.Tyr612Asn)
c.1867T>A (p.Tyr623Asn)
c.1774T>A (p.Tyr592Asn)
c.1126T>A (p.Tyr376Asn)
c.1435T>A (p.Tyr479Asn)
c.799T>A (p.Tyr267Asn)
3g.10359917C>ACA351781213ATP2B2c.1731G>T (p.Met577Ile)
c.1833G>T (p.Met611Ile)
c.1866G>T (p.Met622Ile)
c.1773G>T (p.Met591Ile)
c.1125G>T (p.Met375Ile)
c.1434G>T (p.Met478Ile)
c.798G>T (p.Met266Ile)
 ClinVar
3g.10359917C>GCA351781214ATP2B2c.1731G>C (p.Met577Ile)
c.1833G>C (p.Met611Ile)
c.1866G>C (p.Met622Ile)
c.1773G>C (p.Met591Ile)
c.1125G>C (p.Met375Ile)
c.1434G>C (p.Met478Ile)
c.798G>C (p.Met266Ile)
3g.10359917C>TCA351781215ATP2B2c.1731G>A (p.Met577Ile)
c.1833G>A (p.Met611Ile)
c.1866G>A (p.Met622Ile)
c.1773G>A (p.Met591Ile)
c.1125G>A (p.Met375Ile)
c.1434G>A (p.Met478Ile)
c.798G>A (p.Met266Ile)
3g.10359918A>CCA351781216ATP2B2c.1730T>G (p.Met577Arg)
c.1832T>G (p.Met611Arg)
c.1865T>G (p.Met622Arg)
c.1772T>G (p.Met591Arg)
c.1124T>G (p.Met375Arg)
c.1433T>G (p.Met478Arg)
c.797T>G (p.Met266Arg)
3g.10359918A>GCA351781217ATP2B2c.1730T>C (p.Met577Thr)
c.1832T>C (p.Met611Thr)
c.1865T>C (p.Met622Thr)
c.1772T>C (p.Met591Thr)
c.1124T>C (p.Met375Thr)
c.1433T>C (p.Met478Thr)
c.797T>C (p.Met266Thr)
3g.10359918A>TCA351781218ATP2B2c.1730T>A (p.Met577Lys)
c.1832T>A (p.Met611Lys)
c.1865T>A (p.Met622Lys)
c.1772T>A (p.Met591Lys)
c.1124T>A (p.Met375Lys)
c.1433T>A (p.Met478Lys)
c.797T>A (p.Met266Lys)
3g.10359919T>ACA351781219ATP2B2c.1729A>T (p.Met577Leu)
c.1831A>T (p.Met611Leu)
c.1864A>T (p.Met622Leu)
c.1771A>T (p.Met591Leu)
c.1123A>T (p.Met375Leu)
c.1432A>T (p.Met478Leu)
c.796A>T (p.Met266Leu)
3g.10359919T>CCA351781220ATP2B2c.1729A>G (p.Met577Val)
c.1831A>G (p.Met611Val)
c.1864A>G (p.Met622Val)
c.1771A>G (p.Met591Val)
c.1123A>G (p.Met375Val)
c.1432A>G (p.Met478Val)
c.796A>G (p.Met266Val)
 ClinVar gnomAD v4
3g.10359919T>GCA351781221ATP2B2c.1729A>C (p.Met577Leu)
c.1831A>C (p.Met611Leu)
c.1864A>C (p.Met622Leu)
c.1771A>C (p.Met591Leu)
c.1123A>C (p.Met375Leu)
c.1432A>C (p.Met478Leu)
c.796A>C (p.Met266Leu)
3g.10359920G>ACA432537818ATP2B2c.1728C>T (p.Arg576=)
c.1830C>T (p.Arg610=)
c.1863C>T (p.Arg621=)
c.1770C>T (p.Arg590=)
c.1122C>T (p.Arg374=)
c.1431C>T (p.Arg477=)
c.795C>T (p.Arg265=)
3g.10359920G>CCA432537819ATP2B2c.1728C>G (p.Arg576=)
c.1830C>G (p.Arg610=)
c.1863C>G (p.Arg621=)
c.1770C>G (p.Arg590=)
c.1122C>G (p.Arg374=)
c.1431C>G (p.Arg477=)
c.795C>G (p.Arg265=)
3g.10359920G>TCA432537820ATP2B2c.1728C>A (p.Arg576=)
c.1830C>A (p.Arg610=)
c.1863C>A (p.Arg621=)
c.1770C>A (p.Arg590=)
c.1122C>A (p.Arg374=)
c.1431C>A (p.Arg477=)
c.795C>A (p.Arg265=)
3g.10359921C>ACA351781223ATP2B2c.1727G>T (p.Arg576Leu)
c.1829G>T (p.Arg610Leu)
c.1862G>T (p.Arg621Leu)
c.1769G>T (p.Arg590Leu)
c.1121G>T (p.Arg374Leu)
c.1430G>T (p.Arg477Leu)
c.794G>T (p.Arg265Leu)
 dbSNP gnomAD v3 gnomAD v4
3g.10359921C=CA1345191690ATP2B2c.1727G= (p.Arg576=)
c.1829G= (p.Arg610=)
c.1862G= (p.Arg621=)
c.1769G= (p.Arg590=)
c.1121G= (p.Arg374=)
c.1430G= (p.Arg477=)
c.794G= (p.Arg265=)
3g.10359921C>GCA351781224ATP2B2c.1727G>C (p.Arg576Pro)
c.1829G>C (p.Arg610Pro)
c.1862G>C (p.Arg621Pro)
c.1769G>C (p.Arg590Pro)
c.1121G>C (p.Arg374Pro)
c.1430G>C (p.Arg477Pro)
c.794G>C (p.Arg265Pro)
3g.10359921C>TCA351781222ATP2B2c.1727G>A (p.Arg576His)
c.1829G>A (p.Arg610His)
c.1862G>A (p.Arg621His)
c.1769G>A (p.Arg590His)
c.1121G>A (p.Arg374His)
c.1430G>A (p.Arg477His)
c.794G>A (p.Arg265His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.10359922G>ACA2253565ATP2B2c.1726C>T (p.Arg576Cys)
c.1828C>T (p.Arg610Cys)
c.1861C>T (p.Arg621Cys)
c.1768C>T (p.Arg590Cys)
c.1120C>T (p.Arg374Cys)
c.1429C>T (p.Arg477Cys)
c.793C>T (p.Arg265Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.10359922G>CCA351781225ATP2B2c.1726C>G (p.Arg576Gly)
c.1828C>G (p.Arg610Gly)
c.1861C>G (p.Arg621Gly)
c.1768C>G (p.Arg590Gly)
c.1120C>G (p.Arg374Gly)
c.1429C>G (p.Arg477Gly)
c.793C>G (p.Arg265Gly)
 gnomAD v4
3g.10359922G=CA1345191694ATP2B2c.1726C= (p.Arg576=)
c.1828C= (p.Arg610=)
c.1861C= (p.Arg621=)
c.1768C= (p.Arg590=)
c.1120C= (p.Arg374=)
c.1429C= (p.Arg477=)
c.793C= (p.Arg265=)
3g.10359922G>TCA351781226ATP2B2c.1726C>A (p.Arg576Ser)
c.1828C>A (p.Arg610Ser)
c.1861C>A (p.Arg621Ser)
c.1768C>A (p.Arg590Ser)
c.1120C>A (p.Arg374Ser)
c.1429C>A (p.Arg477Ser)
c.793C>A (p.Arg265Ser)
3g.10359923G>ACA432537822ATP2B2c.1725C>T (p.Phe575=)
c.1827C>T (p.Phe609=)
c.1860C>T (p.Phe620=)
c.1767C>T (p.Phe589=)
c.1119C>T (p.Phe373=)
c.1428C>T (p.Phe476=)
c.792C>T (p.Phe264=)
 gnomAD v4
3g.10359923G>CCA351781227ATP2B2c.1725C>G (p.Phe575Leu)
c.1827C>G (p.Phe609Leu)
c.1860C>G (p.Phe620Leu)
c.1767C>G (p.Phe589Leu)
c.1119C>G (p.Phe373Leu)
c.1428C>G (p.Phe476Leu)
c.792C>G (p.Phe264Leu)
3g.10359923G>TCA351781228ATP2B2c.1725C>A (p.Phe575Leu)
c.1827C>A (p.Phe609Leu)
c.1860C>A (p.Phe620Leu)
c.1767C>A (p.Phe589Leu)
c.1119C>A (p.Phe373Leu)
c.1428C>A (p.Phe476Leu)
c.792C>A (p.Phe264Leu)
3g.10359924A>CCA351781231ATP2B2c.1724T>G (p.Phe575Cys)
c.1826T>G (p.Phe609Cys)
c.1859T>G (p.Phe620Cys)
c.1766T>G (p.Phe589Cys)
c.1118T>G (p.Phe373Cys)
c.1427T>G (p.Phe476Cys)
c.791T>G (p.Phe264Cys)
3g.10359924A>GCA351781229ATP2B2c.1724T>C (p.Phe575Ser)
c.1826T>C (p.Phe609Ser)
c.1859T>C (p.Phe620Ser)
c.1766T>C (p.Phe589Ser)
c.1118T>C (p.Phe373Ser)
c.1427T>C (p.Phe476Ser)
c.791T>C (p.Phe264Ser)
3g.10359924A>TCA351781230ATP2B2c.1724T>A (p.Phe575Tyr)
c.1826T>A (p.Phe609Tyr)
c.1859T>A (p.Phe620Tyr)
c.1766T>A (p.Phe589Tyr)
c.1118T>A (p.Phe373Tyr)
c.1427T>A (p.Phe476Tyr)
c.791T>A (p.Phe264Tyr)
3g.10359925A>CCA351781232ATP2B2c.1723T>G (p.Phe575Val)
c.1825T>G (p.Phe609Val)
c.1858T>G (p.Phe620Val)
c.1765T>G (p.Phe589Val)
c.1117T>G (p.Phe373Val)
c.1426T>G (p.Phe476Val)
c.790T>G (p.Phe264Val)
3g.10359925A>GCA351781233ATP2B2c.1723T>C (p.Phe575Leu)
c.1825T>C (p.Phe609Leu)
c.1858T>C (p.Phe620Leu)
c.1765T>C (p.Phe589Leu)
c.1117T>C (p.Phe373Leu)
c.1426T>C (p.Phe476Leu)
c.790T>C (p.Phe264Leu)
3g.10359925A>TCA351781234ATP2B2c.1723T>A (p.Phe575Ile)
c.1825T>A (p.Phe609Ile)
c.1858T>A (p.Phe620Ile)
c.1765T>A (p.Phe589Ile)
c.1117T>A (p.Phe373Ile)
c.1426T>A (p.Phe476Ile)
c.790T>A (p.Phe264Ile)
3g.10359926G>ACA432537824ATP2B2c.1722C>T (p.Ser574=)
c.1824C>T (p.Ser608=)
c.1857C>T (p.Ser619=)
c.1764C>T (p.Ser588=)
c.1116C>T (p.Ser372=)
c.1425C>T (p.Ser475=)
c.789C>T (p.Ser263=)
3g.10359926G>CCA351781235ATP2B2c.1722C>G (p.Ser574Arg)
c.1824C>G (p.Ser608Arg)
c.1857C>G (p.Ser619Arg)
c.1764C>G (p.Ser588Arg)
c.1116C>G (p.Ser372Arg)
c.1425C>G (p.Ser475Arg)
c.789C>G (p.Ser263Arg)
3g.10359926G>TCA351781236ATP2B2c.1722C>A (p.Ser574Arg)
c.1824C>A (p.Ser608Arg)
c.1857C>A (p.Ser619Arg)
c.1764C>A (p.Ser588Arg)
c.1116C>A (p.Ser372Arg)
c.1425C>A (p.Ser475Arg)
c.789C>A (p.Ser263Arg)
3g.10359927C>ACA351781239ATP2B2c.1721G>T (p.Ser574Ile)
c.1823G>T (p.Ser608Ile)
c.1856G>T (p.Ser619Ile)
c.1763G>T (p.Ser588Ile)
c.1115G>T (p.Ser372Ile)
c.1424G>T (p.Ser475Ile)
c.788G>T (p.Ser263Ile)
3g.10359927C=CA1345191700ATP2B2c.1721G= (p.Ser574=)
c.1823G= (p.Ser608=)
c.1856G= (p.Ser619=)
c.1763G= (p.Ser588=)
c.1115G= (p.Ser372=)
c.1424G= (p.Ser475=)
c.788G= (p.Ser263=)
3g.10359927C>GCA351781238ATP2B2c.1721G>C (p.Ser574Thr)
c.1823G>C (p.Ser608Thr)
c.1856G>C (p.Ser619Thr)
c.1763G>C (p.Ser588Thr)
c.1115G>C (p.Ser372Thr)
c.1424G>C (p.Ser475Thr)
c.788G>C (p.Ser263Thr)
 gnomAD v4
3g.10359927C>TCA351781237ATP2B2c.1721G>A (p.Ser574Asn)
c.1823G>A (p.Ser608Asn)
c.1856G>A (p.Ser619Asn)
c.1763G>A (p.Ser588Asn)
c.1115G>A (p.Ser372Asn)
c.1424G>A (p.Ser475Asn)
c.788G>A (p.Ser263Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.10359928T>ACA351781240ATP2B2c.1720A>T (p.Ser574Cys)
c.1822A>T (p.Ser608Cys)
c.1855A>T (p.Ser619Cys)
c.1762A>T (p.Ser588Cys)
c.1114A>T (p.Ser372Cys)
c.1423A>T (p.Ser475Cys)
c.787A>T (p.Ser263Cys)
3g.10359928T>CCA351781242ATP2B2c.1720A>G (p.Ser574Gly)
c.1822A>G (p.Ser608Gly)
c.1855A>G (p.Ser619Gly)
c.1762A>G (p.Ser588Gly)
c.1114A>G (p.Ser372Gly)
c.1423A>G (p.Ser475Gly)
c.787A>G (p.Ser263Gly)
3g.10359928T>GCA351781241ATP2B2c.1720A>C (p.Ser574Arg)
c.1822A>C (p.Ser608Arg)
c.1855A>C (p.Ser619Arg)
c.1762A>C (p.Ser588Arg)
c.1114A>C (p.Ser372Arg)
c.1423A>C (p.Ser475Arg)
c.787A>C (p.Ser263Arg)
3g.10359929C>ACA351781243ATP2B2c.1719G>T (p.Glu573Asp)
c.1821G>T (p.Glu607Asp)
c.1854G>T (p.Glu618Asp)
c.1761G>T (p.Glu587Asp)
c.1113G>T (p.Glu371Asp)
c.1422G>T (p.Glu474Asp)
c.786G>T (p.Glu262Asp)
3g.10359929C=CA1345191704ATP2B2c.1719G= (p.Glu573=)
c.1821G= (p.Glu607=)
c.1854G= (p.Glu618=)
c.1761G= (p.Glu587=)
c.1113G= (p.Glu371=)
c.1422G= (p.Glu474=)
c.786G= (p.Glu262=)
3g.10359929C>GCA351781244ATP2B2c.1719G>C (p.Glu573Asp)
c.1821G>C (p.Glu607Asp)
c.1854G>C (p.Glu618Asp)
c.1761G>C (p.Glu587Asp)
c.1113G>C (p.Glu371Asp)
c.1422G>C (p.Glu474Asp)
c.786G>C (p.Glu262Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.10359929C>TCA432537828ATP2B2c.1719G>A (p.Glu573=)
c.1821G>A (p.Glu607=)
c.1854G>A (p.Glu618=)
c.1761G>A (p.Glu587=)
c.1113G>A (p.Glu371=)
c.1422G>A (p.Glu474=)
c.786G>A (p.Glu262=)
 dbSNP gnomAD v4
3g.10359930T>ACA351781245ATP2B2c.1718A>T (p.Glu573Val)
c.1820A>T (p.Glu607Val)
c.1853A>T (p.Glu618Val)
c.1760A>T (p.Glu587Val)
c.1112A>T (p.Glu371Val)
c.1421A>T (p.Glu474Val)
c.785A>T (p.Glu262Val)
3g.10359930T>CCA351781247ATP2B2c.1718A>G (p.Glu573Gly)
c.1820A>G (p.Glu607Gly)
c.1853A>G (p.Glu618Gly)
c.1760A>G (p.Glu587Gly)
c.1112A>G (p.Glu371Gly)
c.1421A>G (p.Glu474Gly)
c.785A>G (p.Glu262Gly)
3g.10359930T>GCA351781246ATP2B2c.1718A>C (p.Glu573Ala)
c.1820A>C (p.Glu607Ala)
c.1853A>C (p.Glu618Ala)
c.1760A>C (p.Glu587Ala)
c.1112A>C (p.Glu371Ala)
c.1421A>C (p.Glu474Ala)
c.785A>C (p.Glu262Ala)
3g.10359931C>ACA351781248ATP2B2c.1717G>T (p.Glu573Ter)
c.1819G>T (p.Glu607Ter)
c.1852G>T (p.Glu618Ter)
c.1759G>T (p.Glu587Ter)
c.1111G>T (p.Glu371Ter)
c.1420G>T (p.Glu474Ter)
c.784G>T (p.Glu262Ter)
3g.10359931C=CA1345191708ATP2B2c.1717G= (p.Glu573=)
c.1819G= (p.Glu607=)
c.1852G= (p.Glu618=)
c.1759G= (p.Glu587=)
c.1111G= (p.Glu371=)
c.1420G= (p.Glu474=)
c.784G= (p.Glu262=)
3g.10359931C>GCA351781249ATP2B2c.1717G>C (p.Glu573Gln)
c.1819G>C (p.Glu607Gln)
c.1852G>C (p.Glu618Gln)
c.1759G>C (p.Glu587Gln)
c.1111G>C (p.Glu371Gln)
c.1420G>C (p.Glu474Gln)
c.784G>C (p.Glu262Gln)
3g.10359931C>TCA2253566ATP2B2c.1717G>A (p.Glu573Lys)
c.1819G>A (p.Glu607Lys)
c.1852G>A (p.Glu618Lys)
c.1759G>A (p.Glu587Lys)
c.1111G>A (p.Glu371Lys)
c.1420G>A (p.Glu474Lys)
c.784G>A (p.Glu262Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359932G>ACA2253567ATP2B2c.1716C>T (p.Asp572=)
c.1818C>T (p.Asp606=)
c.1851C>T (p.Asp617=)
c.1758C>T (p.Asp586=)
c.1110C>T (p.Asp370=)
c.1419C>T (p.Asp473=)
c.783C>T (p.Asp261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359932G>CCA351781250ATP2B2c.1716C>G (p.Asp572Glu)
c.1818C>G (p.Asp606Glu)
c.1851C>G (p.Asp617Glu)
c.1758C>G (p.Asp586Glu)
c.1110C>G (p.Asp370Glu)
c.1419C>G (p.Asp473Glu)
c.783C>G (p.Asp261Glu)
 dbSNP gnomAD v4
3g.10359932G=CA1345191712ATP2B2c.1716C= (p.Asp572=)
c.1818C= (p.Asp606=)
c.1851C= (p.Asp617=)
c.1758C= (p.Asp586=)
c.1110C= (p.Asp370=)
c.1419C= (p.Asp473=)
c.783C= (p.Asp261=)
3g.10359932G>TCA351781251ATP2B2c.1716C>A (p.Asp572Glu)
c.1818C>A (p.Asp606Glu)
c.1851C>A (p.Asp617Glu)
c.1758C>A (p.Asp586Glu)
c.1110C>A (p.Asp370Glu)
c.1419C>A (p.Asp473Glu)
c.783C>A (p.Asp261Glu)
 gnomAD v4
3g.10359933T>ACA351781252ATP2B2c.1715A>T (p.Asp572Val)
c.1817A>T (p.Asp606Val)
c.1850A>T (p.Asp617Val)
c.1757A>T (p.Asp586Val)
c.1109A>T (p.Asp370Val)
c.1418A>T (p.Asp473Val)
c.782A>T (p.Asp261Val)
3g.10359933T>CCA351781253ATP2B2c.1715A>G (p.Asp572Gly)
c.1817A>G (p.Asp606Gly)
c.1850A>G (p.Asp617Gly)
c.1757A>G (p.Asp586Gly)
c.1109A>G (p.Asp370Gly)
c.1418A>G (p.Asp473Gly)
c.782A>G (p.Asp261Gly)
3g.10359933T>GCA351781254ATP2B2c.1715A>C (p.Asp572Ala)
c.1817A>C (p.Asp606Ala)
c.1850A>C (p.Asp617Ala)
c.1757A>C (p.Asp586Ala)
c.1109A>C (p.Asp370Ala)
c.1418A>C (p.Asp473Ala)
c.782A>C (p.Asp261Ala)
3g.10359934C>ACA351781255ATP2B2c.1714G>T (p.Asp572Tyr)
c.1816G>T (p.Asp606Tyr)
c.1849G>T (p.Asp617Tyr)
c.1756G>T (p.Asp586Tyr)
c.1108G>T (p.Asp370Tyr)
c.1417G>T (p.Asp473Tyr)
c.781G>T (p.Asp261Tyr)
3g.10359934C=CA1345191717ATP2B2c.1714G= (p.Asp572=)
c.1816G= (p.Asp606=)
c.1849G= (p.Asp617=)
c.1756G= (p.Asp586=)
c.1108G= (p.Asp370=)
c.1417G= (p.Asp473=)
c.781G= (p.Asp261=)
3g.10359934C>GCA351781256ATP2B2c.1714G>C (p.Asp572His)
c.1816G>C (p.Asp606His)
c.1849G>C (p.Asp617His)
c.1756G>C (p.Asp586His)
c.1108G>C (p.Asp370His)
c.1417G>C (p.Asp473His)
c.781G>C (p.Asp261His)
3g.10359934C>TCA2253568ATP2B2c.1714G>A (p.Asp572Asn)
c.1816G>A (p.Asp606Asn)
c.1849G>A (p.Asp617Asn)
c.1756G>A (p.Asp586Asn)
c.1108G>A (p.Asp370Asn)
c.1417G>A (p.Asp473Asn)
c.781G>A (p.Asp261Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359935G>ACA2253569ATP2B2c.1713C>T (p.Pro571=)
c.1815C>T (p.Pro605=)
c.1848C>T (p.Pro616=)
c.1755C>T (p.Pro585=)
c.1107C>T (p.Pro369=)
c.1416C>T (p.Pro472=)
c.780C>T (p.Pro260=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.10359935G>CCA432537831ATP2B2c.1713C>G (p.Pro571=)
c.1815C>G (p.Pro605=)
c.1848C>G (p.Pro616=)
c.1755C>G (p.Pro585=)
c.1107C>G (p.Pro369=)
c.1416C>G (p.Pro472=)
c.780C>G (p.Pro260=)
3g.10359935G=CA1345191721ATP2B2c.1713C= (p.Pro571=)
c.1815C= (p.Pro605=)
c.1848C= (p.Pro616=)
c.1755C= (p.Pro585=)
c.1107C= (p.Pro369=)
c.1416C= (p.Pro472=)
c.780C= (p.Pro260=)
3g.10359935G>TCA432537830ATP2B2c.1713C>A (p.Pro571=)
c.1815C>A (p.Pro605=)
c.1848C>A (p.Pro616=)
c.1755C>A (p.Pro585=)
c.1107C>A (p.Pro369=)
c.1416C>A (p.Pro472=)
c.780C>A (p.Pro260=)
 gnomAD v4
3g.10359936G>ACA351781257ATP2B2c.1712C>T (p.Pro571Leu)
c.1814C>T (p.Pro605Leu)
c.1847C>T (p.Pro616Leu)
c.1754C>T (p.Pro585Leu)
c.1106C>T (p.Pro369Leu)
c.1415C>T (p.Pro472Leu)
c.779C>T (p.Pro260Leu)
3g.10359936G>CCA351781258ATP2B2c.1712C>G (p.Pro571Arg)
c.1814C>G (p.Pro605Arg)
c.1847C>G (p.Pro616Arg)
c.1754C>G (p.Pro585Arg)
c.1106C>G (p.Pro369Arg)
c.1415C>G (p.Pro472Arg)
c.779C>G (p.Pro260Arg)
 COSMIC COSMIC
3g.10359936G>TCA351781259ATP2B2c.1712C>A (p.Pro571His)
c.1814C>A (p.Pro605His)
c.1847C>A (p.Pro616His)
c.1754C>A (p.Pro585His)
c.1106C>A (p.Pro369His)
c.1415C>A (p.Pro472His)
c.779C>A (p.Pro260His)
3g.10359937G>ACA351781260ATP2B2c.1711C>T (p.Pro571Ser)
c.1813C>T (p.Pro605Ser)
c.1846C>T (p.Pro616Ser)
c.1753C>T (p.Pro585Ser)
c.1105C>T (p.Pro369Ser)
c.1414C>T (p.Pro472Ser)
c.778C>T (p.Pro260Ser)
 gnomAD v4
3g.10359937G>CCA351781261ATP2B2c.1711C>G (p.Pro571Ala)
c.1813C>G (p.Pro605Ala)
c.1846C>G (p.Pro616Ala)
c.1753C>G (p.Pro585Ala)
c.1105C>G (p.Pro369Ala)
c.1414C>G (p.Pro472Ala)
c.778C>G (p.Pro260Ala)
3g.10359937G>TCA351781262ATP2B2c.1711C>A (p.Pro571Thr)
c.1813C>A (p.Pro605Thr)
c.1846C>A (p.Pro616Thr)
c.1753C>A (p.Pro585Thr)
c.1105C>A (p.Pro369Thr)
c.1414C>A (p.Pro472Thr)
c.778C>A (p.Pro260Thr)
3g.10359938C>ACA432537833ATP2B2c.1710G>T (p.Leu570=)
c.1812G>T (p.Leu604=)
c.1845G>T (p.Leu615=)
c.1752G>T (p.Leu584=)
c.1104G>T (p.Leu368=)
c.1413G>T (p.Leu471=)
c.777G>T (p.Leu259=)
 dbSNP
3g.10359938C=CA1345191724ATP2B2c.1710G= (p.Leu570=)
c.1812G= (p.Leu604=)
c.1845G= (p.Leu615=)
c.1752G= (p.Leu584=)
c.1104G= (p.Leu368=)
c.1413G= (p.Leu471=)
c.777G= (p.Leu259=)
3g.10359938C>GCA432537835ATP2B2c.1710G>C (p.Leu570=)
c.1812G>C (p.Leu604=)
c.1845G>C (p.Leu615=)
c.1752G>C (p.Leu584=)
c.1104G>C (p.Leu368=)
c.1413G>C (p.Leu471=)
c.777G>C (p.Leu259=)
3g.10359938C>TCA432537834ATP2B2c.1710G>A (p.Leu570=)
c.1812G>A (p.Leu604=)
c.1845G>A (p.Leu615=)
c.1752G>A (p.Leu584=)
c.1104G>A (p.Leu368=)
c.1413G>A (p.Leu471=)
c.777G>A (p.Leu259=)
 gnomAD v4
3g.10359939A>CCA351781263ATP2B2c.1709T>G (p.Leu570Arg)
c.1811T>G (p.Leu604Arg)
c.1844T>G (p.Leu615Arg)
c.1751T>G (p.Leu584Arg)
c.1103T>G (p.Leu368Arg)
c.1412T>G (p.Leu471Arg)
c.776T>G (p.Leu259Arg)
3g.10359939A>GCA351781264ATP2B2c.1709T>C (p.Leu570Pro)
c.1811T>C (p.Leu604Pro)
c.1844T>C (p.Leu615Pro)
c.1751T>C (p.Leu584Pro)
c.1103T>C (p.Leu368Pro)
c.1412T>C (p.Leu471Pro)
c.776T>C (p.Leu259Pro)
 gnomAD v4
3g.10359939A>TCA351781265ATP2B2c.1709T>A (p.Leu570Gln)
c.1811T>A (p.Leu604Gln)
c.1844T>A (p.Leu615Gln)
c.1751T>A (p.Leu584Gln)
c.1103T>A (p.Leu368Gln)
c.1412T>A (p.Leu471Gln)
c.776T>A (p.Leu259Gln)
3g.10359940G>ACA432537841ATP2B2c.1708C>T (p.Leu570=)
c.1810C>T (p.Leu604=)
c.1843C>T (p.Leu615=)
c.1750C>T (p.Leu584=)
c.1102C>T (p.Leu368=)
c.1411C>T (p.Leu471=)
c.775C>T (p.Leu259=)
 dbSNP
3g.10359940G>CCA351781266ATP2B2c.1708C>G (p.Leu570Val)
c.1810C>G (p.Leu604Val)
c.1843C>G (p.Leu615Val)
c.1750C>G (p.Leu584Val)
c.1102C>G (p.Leu368Val)
c.1411C>G (p.Leu471Val)
c.775C>G (p.Leu259Val)
3g.10359940G=CA1345191726ATP2B2c.1708C= (p.Leu570=)
c.1810C= (p.Leu604=)
c.1843C= (p.Leu615=)
c.1750C= (p.Leu584=)
c.1102C= (p.Leu368=)
c.1411C= (p.Leu471=)
c.775C= (p.Leu259=)
3g.10359940G>TCA351781267ATP2B2c.1708C>A (p.Leu570Met)
c.1810C>A (p.Leu604Met)
c.1843C>A (p.Leu615Met)
c.1750C>A (p.Leu584Met)
c.1102C>A (p.Leu368Met)
c.1411C>A (p.Leu471Met)
c.775C>A (p.Leu259Met)
3g.10359941C>ACA351781269ATP2B2c.1707G>T (p.Lys569Asn)
c.1809G>T (p.Lys603Asn)
c.1842G>T (p.Lys614Asn)
c.1749G>T (p.Lys583Asn)
c.1101G>T (p.Lys367Asn)
c.1410G>T (p.Lys470Asn)
c.774G>T (p.Lys258Asn)
 gnomAD v4
3g.10359941C>GCA351781268ATP2B2c.1707G>C (p.Lys569Asn)
c.1809G>C (p.Lys603Asn)
c.1842G>C (p.Lys614Asn)
c.1749G>C (p.Lys583Asn)
c.1101G>C (p.Lys367Asn)
c.1410G>C (p.Lys470Asn)
c.774G>C (p.Lys258Asn)
3g.10359941C>TCA432537842ATP2B2c.1707G>A (p.Lys569=)
c.1809G>A (p.Lys603=)
c.1842G>A (p.Lys614=)
c.1749G>A (p.Lys583=)
c.1101G>A (p.Lys367=)
c.1410G>A (p.Lys470=)
c.774G>A (p.Lys258=)
3g.10359942T>ACA351781270ATP2B2c.1706A>T (p.Lys569Met)
c.1808A>T (p.Lys603Met)
c.1841A>T (p.Lys614Met)
c.1748A>T (p.Lys583Met)
c.1100A>T (p.Lys367Met)
c.1409A>T (p.Lys470Met)
c.773A>T (p.Lys258Met)
3g.10359942T>CCA351781271ATP2B2c.1706A>G (p.Lys569Arg)
c.1808A>G (p.Lys603Arg)
c.1841A>G (p.Lys614Arg)
c.1748A>G (p.Lys583Arg)
c.1100A>G (p.Lys367Arg)
c.1409A>G (p.Lys470Arg)
c.773A>G (p.Lys258Arg)
3g.10359942T>GCA351781272ATP2B2c.1706A>C (p.Lys569Thr)
c.1808A>C (p.Lys603Thr)
c.1841A>C (p.Lys614Thr)
c.1748A>C (p.Lys583Thr)
c.1100A>C (p.Lys367Thr)
c.1409A>C (p.Lys470Thr)
c.773A>C (p.Lys258Thr)
3g.10359943T>ACA351781273ATP2B2c.1705A>T (p.Lys569Ter)
c.1807A>T (p.Lys603Ter)
c.1840A>T (p.Lys614Ter)
c.1747A>T (p.Lys583Ter)
c.1099A>T (p.Lys367Ter)
c.1408A>T (p.Lys470Ter)
c.772A>T (p.Lys258Ter)
3g.10359943T>CCA351781274ATP2B2c.1705A>G (p.Lys569Glu)
c.1807A>G (p.Lys603Glu)
c.1840A>G (p.Lys614Glu)
c.1747A>G (p.Lys583Glu)
c.1099A>G (p.Lys367Glu)
c.1408A>G (p.Lys470Glu)
c.772A>G (p.Lys258Glu)
3g.10359943T>GCA351781275ATP2B2c.1705A>C (p.Lys569Gln)
c.1807A>C (p.Lys603Gln)
c.1840A>C (p.Lys614Gln)
c.1747A>C (p.Lys583Gln)
c.1099A>C (p.Lys367Gln)
c.1408A>C (p.Lys470Gln)
c.772A>C (p.Lys258Gln)
3g.10359944G>ACA432537843ATP2B2c.1704C>T (p.Ile568=)
c.1806C>T (p.Ile602=)
c.1839C>T (p.Ile613=)
c.1746C>T (p.Ile582=)
c.1098C>T (p.Ile366=)
c.1407C>T (p.Ile469=)
c.771C>T (p.Ile257=)
 COSMIC COSMIC
3g.10359944G>CCA351781276ATP2B2c.1704C>G (p.Ile568Met)
c.1806C>G (p.Ile602Met)
c.1839C>G (p.Ile613Met)
c.1746C>G (p.Ile582Met)
c.1098C>G (p.Ile366Met)
c.1407C>G (p.Ile469Met)
c.771C>G (p.Ile257Met)
 dbSNP
3g.10359944G>TCA432537844ATP2B2c.1704C>A (p.Ile568=)
c.1806C>A (p.Ile602=)
c.1839C>A (p.Ile613=)
c.1746C>A (p.Ile582=)
c.1098C>A (p.Ile366=)
c.1407C>A (p.Ile469=)
c.771C>A (p.Ile257=)
3g.10359945A>CCA351781277ATP2B2c.1703T>G (p.Ile568Ser)
c.1805T>G (p.Ile602Ser)
c.1838T>G (p.Ile613Ser)
c.1745T>G (p.Ile582Ser)
c.1097T>G (p.Ile366Ser)
c.1406T>G (p.Ile469Ser)
c.770T>G (p.Ile257Ser)
3g.10359945A>GCA351781278ATP2B2c.1703T>C (p.Ile568Thr)
c.1805T>C (p.Ile602Thr)
c.1838T>C (p.Ile613Thr)
c.1745T>C (p.Ile582Thr)
c.1097T>C (p.Ile366Thr)
c.1406T>C (p.Ile469Thr)
c.770T>C (p.Ile257Thr)
3g.10359945A>TCA351781279ATP2B2c.1703T>A (p.Ile568Asn)
c.1805T>A (p.Ile602Asn)
c.1838T>A (p.Ile613Asn)
c.1745T>A (p.Ile582Asn)
c.1097T>A (p.Ile366Asn)
c.1406T>A (p.Ile469Asn)
c.770T>A (p.Ile257Asn)
3g.10359946T>ACA351781280ATP2B2c.1702A>T (p.Ile568Phe)
c.1804A>T (p.Ile602Phe)
c.1837A>T (p.Ile613Phe)
c.1744A>T (p.Ile582Phe)
c.1096A>T (p.Ile366Phe)
c.1405A>T (p.Ile469Phe)
c.769A>T (p.Ile257Phe)
 COSMIC
3g.10359946T>CCA351781281ATP2B2c.1702A>G (p.Ile568Val)
c.1804A>G (p.Ile602Val)
c.1837A>G (p.Ile613Val)
c.1744A>G (p.Ile582Val)
c.1096A>G (p.Ile366Val)
c.1405A>G (p.Ile469Val)
c.769A>G (p.Ile257Val)
3g.10359946T>GCA351781282ATP2B2c.1702A>C (p.Ile568Leu)
c.1804A>C (p.Ile602Leu)
c.1837A>C (p.Ile613Leu)
c.1744A>C (p.Ile582Leu)
c.1096A>C (p.Ile366Leu)
c.1405A>C (p.Ile469Leu)
c.769A>C (p.Ile257Leu)
3g.10359947G>ACA432537845ATP2B2c.1701C>T (p.Val567=)
c.1803C>T (p.Val601=)
c.1836C>T (p.Val612=)
c.1743C>T (p.Val581=)
c.1095C>T (p.Val365=)
c.1404C>T (p.Val468=)
c.768C>T (p.Val256=)
 dbSNP
3g.10359947G>CCA432537847ATP2B2c.1701C>G (p.Val567=)
c.1803C>G (p.Val601=)
c.1836C>G (p.Val612=)
c.1743C>G (p.Val581=)
c.1095C>G (p.Val365=)
c.1404C>G (p.Val468=)
c.768C>G (p.Val256=)
3g.10359947G=CA1345191728ATP2B2c.1701C= (p.Val567=)
c.1803C= (p.Val601=)
c.1836C= (p.Val612=)
c.1743C= (p.Val581=)
c.1095C= (p.Val365=)
c.1404C= (p.Val468=)
c.768C= (p.Val256=)
3g.10359947G>TCA432537846ATP2B2c.1701C>A (p.Val567=)
c.1803C>A (p.Val601=)
c.1836C>A (p.Val612=)
c.1743C>A (p.Val581=)
c.1095C>A (p.Val365=)
c.1404C>A (p.Val468=)
c.768C>A (p.Val256=)

Number of alleles fetched