Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.16986783_16986789delinsCCGCCCGCA1156050270ATP13A2c.3235+16_3235+22delinsCGGGCGG (p.=)
c.3103+16_3103+22delinsCGGGCGG (p.=)
c.3220+16_3220+22delinsCGGGCGG (p.=)
n.1125_1131delinsCGGGCGG
n.823+16_823+22delinsCGGGCGG (p.=)
c.3232+16_3232+22delinsCGGGCGG (p.=)
c.3208+16_3208+22delinsCGGGCGG (p.=)
c.3175+16_3175+22delinsCGGGCGG (p.=)
c.3118+16_3118+22delinsCGGGCGG (p.=)
c.3217+16_3217+22delinsCGGGCGG (p.=)
c.3193+16_3193+22delinsCGGGCGG (p.=)
c.3028+16_3028+22delinsCGGGCGG (p.=)
c.3190+16_3190+22delinsCGGGCGG (p.=)
1g.16986791_16986796delCA1156050276ATP13A2c.3235+16_3235+21del (p.=)
c.3103+16_3103+21del (p.=)
c.3220+16_3220+21del (p.=)
n.1125_1130del
n.823+16_823+21del (p.=)
c.3232+16_3232+21del (p.=)
c.3208+16_3208+21del (p.=)
c.3175+16_3175+21del (p.=)
c.3118+16_3118+21del (p.=)
c.3217+16_3217+21del (p.=)
c.3193+16_3193+21del (p.=)
c.3028+16_3028+21del (p.=)
c.3190+16_3190+21del (p.=)
dbSNP
1g.16986789G>ACA636566ATP13A2c.3235+16C>T (p.=)
c.3103+16C>T (p.=)
c.3220+16C>T (p.=)
n.1125C>T
n.823+16C>T (p.=)
c.3232+16C>T (p.=)
c.3208+16C>T (p.=)
c.3175+16C>T (p.=)
c.3118+16C>T (p.=)
c.3217+16C>T (p.=)
c.3193+16C>T (p.=)
c.3028+16C>T (p.=)
c.3190+16C>T (p.=)
dbSNP ExAC gnomAD
1g.16986789G=CA1143920169ATP13A2c.3235+16C= (p.=)
c.3103+16C= (p.=)
c.3220+16C= (p.=)
n.1125C=
n.823+16C= (p.=)
c.3232+16C= (p.=)
c.3208+16C= (p.=)
c.3175+16C= (p.=)
c.3118+16C= (p.=)
c.3217+16C= (p.=)
c.3193+16C= (p.=)
c.3028+16C= (p.=)
c.3190+16C= (p.=)
1g.16986790C=CA1156050289ATP13A2c.3235+15G= (p.=)
c.3103+15G= (p.=)
c.3220+15G= (p.=)
n.1124G=
n.823+15G= (p.=)
c.3232+15G= (p.=)
c.3208+15G= (p.=)
c.3175+15G= (p.=)
c.3118+15G= (p.=)
c.3217+15G= (p.=)
c.3193+15G= (p.=)
c.3028+15G= (p.=)
c.3190+15G= (p.=)
1g.16986790C>TCA636567ATP13A2c.3235+15G>A (p.=)
c.3103+15G>A (p.=)
c.3220+15G>A (p.=)
n.1124G>A
n.823+15G>A (p.=)
c.3232+15G>A (p.=)
c.3208+15G>A (p.=)
c.3175+15G>A (p.=)
c.3118+15G>A (p.=)
c.3217+15G>A (p.=)
c.3193+15G>A (p.=)
c.3028+15G>A (p.=)
c.3190+15G>A (p.=)
ClinVar dbSNP ExAC gnomAD
1g.16986791G>ACA636568ATP13A2c.3235+14C>T (p.=)
c.3103+14C>T (p.=)
c.3220+14C>T (p.=)
n.1123C>T
n.823+14C>T (p.=)
c.3232+14C>T (p.=)
c.3208+14C>T (p.=)
c.3175+14C>T (p.=)
c.3118+14C>T (p.=)
c.3217+14C>T (p.=)
c.3193+14C>T (p.=)
c.3028+14C>T (p.=)
c.3190+14C>T (p.=)
dbSNP ExAC gnomAD
1g.16986791G>CCA18625597ATP13A2c.3235+14C>G (p.=)
c.3103+14C>G (p.=)
c.3220+14C>G (p.=)
n.1123C>G
n.823+14C>G (p.=)
c.3232+14C>G (p.=)
c.3208+14C>G (p.=)
c.3175+14C>G (p.=)
c.3118+14C>G (p.=)
c.3217+14C>G (p.=)
c.3193+14C>G (p.=)
c.3028+14C>G (p.=)
c.3190+14C>G (p.=)
dbSNP
1g.16986791G=CA1144123665ATP13A2c.3235+14C= (p.=)
c.3103+14C= (p.=)
c.3220+14C= (p.=)
n.1123C=
n.823+14C= (p.=)
c.3232+14C= (p.=)
c.3208+14C= (p.=)
c.3175+14C= (p.=)
c.3118+14C= (p.=)
c.3217+14C= (p.=)
c.3193+14C= (p.=)
c.3028+14C= (p.=)
c.3190+14C= (p.=)
1g.16986792C=CA1143652347ATP13A2c.3235+13G= (p.=)
c.3103+13G= (p.=)
c.3220+13G= (p.=)
n.1122G=
n.823+13G= (p.=)
c.3232+13G= (p.=)
c.3208+13G= (p.=)
c.3175+13G= (p.=)
c.3118+13G= (p.=)
c.3217+13G= (p.=)
c.3193+13G= (p.=)
c.3028+13G= (p.=)
c.3190+13G= (p.=)
1g.16986792C>TCA636569ATP13A2c.3235+13G>A (p.=)
c.3103+13G>A (p.=)
c.3220+13G>A (p.=)
n.1122G>A
n.823+13G>A (p.=)
c.3232+13G>A (p.=)
c.3208+13G>A (p.=)
c.3175+13G>A (p.=)
c.3118+13G>A (p.=)
c.3217+13G>A (p.=)
c.3193+13G>A (p.=)
c.3028+13G>A (p.=)
c.3190+13G>A (p.=)
ClinVar dbSNP ExAC gnomAD
1g.16986793C>ACA645671295ATP13A2c.3235+12G>T (p.=)
c.3103+12G>T (p.=)
c.3220+12G>T (p.=)
n.1121G>T
n.823+12G>T (p.=)
c.3232+12G>T (p.=)
c.3208+12G>T (p.=)
c.3175+12G>T (p.=)
c.3118+12G>T (p.=)
c.3217+12G>T (p.=)
c.3193+12G>T (p.=)
c.3028+12G>T (p.=)
c.3190+12G>T (p.=)
COSMIC
1g.16986793C=CA1156050302ATP13A2c.3235+12G= (p.=)
c.3103+12G= (p.=)
c.3220+12G= (p.=)
n.1121G=
n.823+12G= (p.=)
c.3232+12G= (p.=)
c.3208+12G= (p.=)
c.3175+12G= (p.=)
c.3118+12G= (p.=)
c.3217+12G= (p.=)
c.3193+12G= (p.=)
c.3028+12G= (p.=)
c.3190+12G= (p.=)
1g.16986793C>TCA18625604ATP13A2c.3235+12G>A (p.=)
c.3103+12G>A (p.=)
c.3220+12G>A (p.=)
n.1121G>A
n.823+12G>A (p.=)
c.3232+12G>A (p.=)
c.3208+12G>A (p.=)
c.3175+12G>A (p.=)
c.3118+12G>A (p.=)
c.3217+12G>A (p.=)
c.3193+12G>A (p.=)
c.3028+12G>A (p.=)
c.3190+12G>A (p.=)
dbSNP gnomAD
1g.16986794C>ACA521449631ATP13A2c.3235+11G>T (p.=)
c.3103+11G>T (p.=)
c.3220+11G>T (p.=)
n.1120G>T
n.823+11G>T (p.=)
c.3232+11G>T (p.=)
c.3208+11G>T (p.=)
c.3175+11G>T (p.=)
c.3118+11G>T (p.=)
c.3217+11G>T (p.=)
c.3193+11G>T (p.=)
c.3028+11G>T (p.=)
c.3190+11G>T (p.=)
gnomAD
1g.16986794C=CA1156050309ATP13A2c.3235+11G= (p.=)
c.3103+11G= (p.=)
c.3220+11G= (p.=)
n.1120G=
n.823+11G= (p.=)
c.3232+11G= (p.=)
c.3208+11G= (p.=)
c.3175+11G= (p.=)
c.3118+11G= (p.=)
c.3217+11G= (p.=)
c.3193+11G= (p.=)
c.3028+11G= (p.=)
c.3190+11G= (p.=)
1g.16986794C>GCA521449632ATP13A2c.3235+11G>C (p.=)
c.3103+11G>C (p.=)
c.3220+11G>C (p.=)
n.1120G>C
n.823+11G>C (p.=)
c.3232+11G>C (p.=)
c.3208+11G>C (p.=)
c.3175+11G>C (p.=)
c.3118+11G>C (p.=)
c.3217+11G>C (p.=)
c.3193+11G>C (p.=)
c.3028+11G>C (p.=)
c.3190+11G>C (p.=)
gnomAD
1g.16986794C>TCA636570ATP13A2c.3235+11G>A (p.=)
c.3103+11G>A (p.=)
c.3220+11G>A (p.=)
n.1120G>A
n.823+11G>A (p.=)
c.3232+11G>A (p.=)
c.3208+11G>A (p.=)
c.3175+11G>A (p.=)
c.3118+11G>A (p.=)
c.3217+11G>A (p.=)
c.3193+11G>A (p.=)
c.3028+11G>A (p.=)
c.3190+11G>A (p.=)
dbSNP ExAC gnomAD
1g.16986795G>ACA636571ATP13A2c.3235+10C>T (p.=)
c.3103+10C>T (p.=)
c.3220+10C>T (p.=)
n.1119C>T
n.823+10C>T (p.=)
c.3232+10C>T (p.=)
c.3208+10C>T (p.=)
c.3175+10C>T (p.=)
c.3118+10C>T (p.=)
c.3217+10C>T (p.=)
c.3193+10C>T (p.=)
c.3028+10C>T (p.=)
c.3190+10C>T (p.=)
ClinVar dbSNP ExAC gnomAD
1g.16986795G=CA1147287469ATP13A2c.3235+10C= (p.=)
c.3103+10C= (p.=)
c.3220+10C= (p.=)
n.1119C=
n.823+10C= (p.=)
c.3232+10C= (p.=)
c.3208+10C= (p.=)
c.3175+10C= (p.=)
c.3118+10C= (p.=)
c.3217+10C= (p.=)
c.3193+10C= (p.=)
c.3028+10C= (p.=)
c.3190+10C= (p.=)
1g.16986803A>CCA338233249ATP13A2c.3235+2T>G (p.=)
c.3103+2T>G (p.=)
c.3220+2T>G (p.=)
n.1111T>G
n.823+2T>G (p.=)
c.3232+2T>G (p.=)
c.3208+2T>G (p.=)
c.3175+2T>G (p.=)
c.3118+2T>G (p.=)
c.3217+2T>G (p.=)
c.3193+2T>G (p.=)
c.3028+2T>G (p.=)
c.3190+2T>G (p.=)
1g.16986803A>GCA338233248ATP13A2c.3235+2T>C (p.=)
c.3103+2T>C (p.=)
c.3220+2T>C (p.=)
n.1111T>C
n.823+2T>C (p.=)
c.3232+2T>C (p.=)
c.3208+2T>C (p.=)
c.3175+2T>C (p.=)
c.3118+2T>C (p.=)
c.3217+2T>C (p.=)
c.3193+2T>C (p.=)
c.3028+2T>C (p.=)
c.3190+2T>C (p.=)
1g.16986803A>TCA338233250ATP13A2c.3235+2T>A (p.=)
c.3103+2T>A (p.=)
c.3220+2T>A (p.=)
n.1111T>A
n.823+2T>A (p.=)
c.3232+2T>A (p.=)
c.3208+2T>A (p.=)
c.3175+2T>A (p.=)
c.3118+2T>A (p.=)
c.3217+2T>A (p.=)
c.3193+2T>A (p.=)
c.3028+2T>A (p.=)
c.3190+2T>A (p.=)
1g.16986804C>ACA338233252ATP13A2c.3235+1G>T (p.=)
c.3103+1G>T (p.=)
c.3220+1G>T (p.=)
n.1110G>T
n.823+1G>T (p.=)
c.3232+1G>T (p.=)
c.3208+1G>T (p.=)
c.3175+1G>T (p.=)
c.3118+1G>T (p.=)
c.3217+1G>T (p.=)
c.3193+1G>T (p.=)
c.3028+1G>T (p.=)
c.3190+1G>T (p.=)
1g.16986804C>GCA338233256ATP13A2c.3235+1G>C (p.=)
c.3103+1G>C (p.=)
c.3220+1G>C (p.=)
n.1110G>C
n.823+1G>C (p.=)
c.3232+1G>C (p.=)
c.3208+1G>C (p.=)
c.3175+1G>C (p.=)
c.3118+1G>C (p.=)
c.3217+1G>C (p.=)
c.3193+1G>C (p.=)
c.3028+1G>C (p.=)
c.3190+1G>C (p.=)
1g.16986804C>TCA338233258ATP13A2c.3235+1G>A (p.=)
c.3103+1G>A (p.=)
c.3220+1G>A (p.=)
n.1110G>A
n.823+1G>A (p.=)
c.3232+1G>A (p.=)
c.3208+1G>A (p.=)
c.3175+1G>A (p.=)
c.3118+1G>A (p.=)
c.3217+1G>A (p.=)
c.3193+1G>A (p.=)
c.3028+1G>A (p.=)
c.3190+1G>A (p.=)
1g.16986805C>ACA338233260ATP13A2c.3235G>T (p.Val1079Leu)
c.3103G>T (p.Glu1035Ter)
c.3220G>T (p.Val1074Leu)
n.1109G>T
n.823G>T (p.Glu275Ter)
c.3235G>T (p.Glu1079Ter)
c.3232G>T (p.Glu1078Ter)
c.3220G>T (p.Glu1074Ter)
c.3208G>T (p.Glu1070Ter)
c.3175G>T (p.Glu1059Ter)
c.3118G>T (p.Glu1040Ter)
c.3217G>T (p.Glu1073Ter)
c.3193G>T (p.Glu1065Ter)
c.3028G>T (p.Glu1010Ter)
c.3217G>T (p.Val1073Leu)
c.3193G>T (p.Val1065Leu)
c.3190G>T (p.Val1064Leu)
c.3118G>T (p.Val1040Leu)
c.3103G>T (p.Val1035Leu)
c.3028G>T (p.Val1010Leu)
gnomAD
1g.16986805C=CA1156050316ATP13A2c.3235G= (p.Val1079=)
c.3103G= (p.Glu1035=)
c.3220G= (p.Val1074=)
n.1109G=
n.823G= (p.Glu275=)
c.3235G= (p.Glu1079=)
c.3232G= (p.Glu1078=)
c.3220G= (p.Glu1074=)
c.3208G= (p.Glu1070=)
c.3175G= (p.Glu1059=)
c.3118G= (p.Glu1040=)
c.3217G= (p.Glu1073=)
c.3193G= (p.Glu1065=)
c.3028G= (p.Glu1010=)
c.3217G= (p.Val1073=)
c.3193G= (p.Val1065=)
c.3190G= (p.Val1064=)
c.3118G= (p.Val1040=)
c.3103G= (p.Val1035=)
c.3028G= (p.Val1010=)
1g.16986805C>GCA338233261ATP13A2c.3235G>C (p.Val1079Leu)
c.3103G>C (p.Glu1035Gln)
c.3220G>C (p.Val1074Leu)
n.1109G>C
n.823G>C (p.Glu275Gln)
c.3235G>C (p.Glu1079Gln)
c.3232G>C (p.Glu1078Gln)
c.3220G>C (p.Glu1074Gln)
c.3208G>C (p.Glu1070Gln)
c.3175G>C (p.Glu1059Gln)
c.3118G>C (p.Glu1040Gln)
c.3217G>C (p.Glu1073Gln)
c.3193G>C (p.Glu1065Gln)
c.3028G>C (p.Glu1010Gln)
c.3217G>C (p.Val1073Leu)
c.3193G>C (p.Val1065Leu)
c.3190G>C (p.Val1064Leu)
c.3118G>C (p.Val1040Leu)
c.3103G>C (p.Val1035Leu)
c.3028G>C (p.Val1010Leu)
1g.16986805C>TCA338233262ATP13A2c.3235G>A (p.Val1079Met)
c.3103G>A (p.Glu1035Lys)
c.3220G>A (p.Val1074Met)
n.1109G>A
n.823G>A (p.Glu275Lys)
c.3235G>A (p.Glu1079Lys)
c.3232G>A (p.Glu1078Lys)
c.3220G>A (p.Glu1074Lys)
c.3208G>A (p.Glu1070Lys)
c.3175G>A (p.Glu1059Lys)
c.3118G>A (p.Glu1040Lys)
c.3217G>A (p.Glu1073Lys)
c.3193G>A (p.Glu1065Lys)
c.3028G>A (p.Glu1010Lys)
c.3217G>A (p.Val1073Met)
c.3193G>A (p.Val1065Met)
c.3190G>A (p.Val1064Met)
c.3118G>A (p.Val1040Met)
c.3103G>A (p.Val1035Met)
c.3028G>A (p.Val1010Met)
1g.16986806A=CA1156050318ATP13A2c.3234T= (p.Asn1078=)
c.3102T= (p.Asn1034=)
c.3219T= (p.Asn1073=)
n.1108T=
n.822T= (p.Asn274=)
c.3231T= (p.Asn1077=)
c.3207T= (p.Asn1069=)
c.3174T= (p.Asn1058=)
c.3117T= (p.Asn1039=)
c.3216T= (p.Asn1072=)
c.3192T= (p.Asn1064=)
c.3027T= (p.Asn1009=)
c.3189T= (p.Asn1063=)
1g.16986806A>CCA338233263ATP13A2c.3234T>G (p.Asn1078Lys)
c.3102T>G (p.Asn1034Lys)
c.3219T>G (p.Asn1073Lys)
n.1108T>G
n.822T>G (p.Asn274Lys)
c.3231T>G (p.Asn1077Lys)
c.3207T>G (p.Asn1069Lys)
c.3174T>G (p.Asn1058Lys)
c.3117T>G (p.Asn1039Lys)
c.3216T>G (p.Asn1072Lys)
c.3192T>G (p.Asn1064Lys)
c.3027T>G (p.Asn1009Lys)
c.3189T>G (p.Asn1063Lys)
1g.16986806A>GCA416093540ATP13A2c.3234T>C (p.Asn1078=)
c.3102T>C (p.Asn1034=)
c.3219T>C (p.Asn1073=)
n.1108T>C
n.822T>C (p.Asn274=)
c.3231T>C (p.Asn1077=)
c.3207T>C (p.Asn1069=)
c.3174T>C (p.Asn1058=)
c.3117T>C (p.Asn1039=)
c.3216T>C (p.Asn1072=)
c.3192T>C (p.Asn1064=)
c.3027T>C (p.Asn1009=)
c.3189T>C (p.Asn1063=)
gnomAD
1g.16986806A>TCA338233264ATP13A2c.3234T>A (p.Asn1078Lys)
c.3102T>A (p.Asn1034Lys)
c.3219T>A (p.Asn1073Lys)
n.1108T>A
n.822T>A (p.Asn274Lys)
c.3231T>A (p.Asn1077Lys)
c.3207T>A (p.Asn1069Lys)
c.3174T>A (p.Asn1058Lys)
c.3117T>A (p.Asn1039Lys)
c.3216T>A (p.Asn1072Lys)
c.3192T>A (p.Asn1064Lys)
c.3027T>A (p.Asn1009Lys)
c.3189T>A (p.Asn1063Lys)
1g.16986807T>ACA338233266ATP13A2c.3233A>T (p.Asn1078Ile)
c.3101A>T (p.Asn1034Ile)
c.3218A>T (p.Asn1073Ile)
n.1107A>T
n.821A>T (p.Asn274Ile)
c.3230A>T (p.Asn1077Ile)
c.3206A>T (p.Asn1069Ile)
c.3173A>T (p.Asn1058Ile)
c.3116A>T (p.Asn1039Ile)
c.3215A>T (p.Asn1072Ile)
c.3191A>T (p.Asn1064Ile)
c.3026A>T (p.Asn1009Ile)
c.3188A>T (p.Asn1063Ile)
1g.16986807T>CCA338233268ATP13A2c.3233A>G (p.Asn1078Ser)
c.3101A>G (p.Asn1034Ser)
c.3218A>G (p.Asn1073Ser)
n.1107A>G
n.821A>G (p.Asn274Ser)
c.3230A>G (p.Asn1077Ser)
c.3206A>G (p.Asn1069Ser)
c.3173A>G (p.Asn1058Ser)
c.3116A>G (p.Asn1039Ser)
c.3215A>G (p.Asn1072Ser)
c.3191A>G (p.Asn1064Ser)
c.3026A>G (p.Asn1009Ser)
c.3188A>G (p.Asn1063Ser)
gnomAD COSMIC COSMIC
1g.16986807T>GCA338233269ATP13A2c.3233A>C (p.Asn1078Thr)
c.3101A>C (p.Asn1034Thr)
c.3218A>C (p.Asn1073Thr)
n.1107A>C
n.821A>C (p.Asn274Thr)
c.3230A>C (p.Asn1077Thr)
c.3206A>C (p.Asn1069Thr)
c.3173A>C (p.Asn1058Thr)
c.3116A>C (p.Asn1039Thr)
c.3215A>C (p.Asn1072Thr)
c.3191A>C (p.Asn1064Thr)
c.3026A>C (p.Asn1009Thr)
c.3188A>C (p.Asn1063Thr)
1g.16986807T=CA1156050322ATP13A2c.3233A= (p.Asn1078=)
c.3101A= (p.Asn1034=)
c.3218A= (p.Asn1073=)
n.1107A=
n.821A= (p.Asn274=)
c.3230A= (p.Asn1077=)
c.3206A= (p.Asn1069=)
c.3173A= (p.Asn1058=)
c.3116A= (p.Asn1039=)
c.3215A= (p.Asn1072=)
c.3191A= (p.Asn1064=)
c.3026A= (p.Asn1009=)
c.3188A= (p.Asn1063=)
1g.16986808T>ACA338233273ATP13A2c.3232A>T (p.Asn1078Tyr)
c.3100A>T (p.Asn1034Tyr)
c.3217A>T (p.Asn1073Tyr)
n.1106A>T
n.820A>T (p.Asn274Tyr)
c.3229A>T (p.Asn1077Tyr)
c.3205A>T (p.Asn1069Tyr)
c.3172A>T (p.Asn1058Tyr)
c.3115A>T (p.Asn1039Tyr)
c.3214A>T (p.Asn1072Tyr)
c.3190A>T (p.Asn1064Tyr)
c.3025A>T (p.Asn1009Tyr)
c.3187A>T (p.Asn1063Tyr)
1g.16986808T>CCA338233271ATP13A2c.3232A>G (p.Asn1078Asp)
c.3100A>G (p.Asn1034Asp)
c.3217A>G (p.Asn1073Asp)
n.1106A>G
n.820A>G (p.Asn274Asp)
c.3229A>G (p.Asn1077Asp)
c.3205A>G (p.Asn1069Asp)
c.3172A>G (p.Asn1058Asp)
c.3115A>G (p.Asn1039Asp)
c.3214A>G (p.Asn1072Asp)
c.3190A>G (p.Asn1064Asp)
c.3025A>G (p.Asn1009Asp)
c.3187A>G (p.Asn1063Asp)
1g.16986808T>GCA338233270ATP13A2c.3232A>C (p.Asn1078His)
c.3100A>C (p.Asn1034His)
c.3217A>C (p.Asn1073His)
n.1106A>C
n.820A>C (p.Asn274His)
c.3229A>C (p.Asn1077His)
c.3205A>C (p.Asn1069His)
c.3172A>C (p.Asn1058His)
c.3115A>C (p.Asn1039His)
c.3214A>C (p.Asn1072His)
c.3190A>C (p.Asn1064His)
c.3025A>C (p.Asn1009His)
c.3187A>C (p.Asn1063His)
1g.16986809G>ACA416093544ATP13A2c.3231C>T (p.Thr1077=)
c.3099C>T (p.Thr1033=)
c.3216C>T (p.Thr1072=)
n.1105C>T
n.819C>T (p.Thr273=)
c.3228C>T (p.Thr1076=)
c.3204C>T (p.Thr1068=)
c.3171C>T (p.Thr1057=)
c.3114C>T (p.Thr1038=)
c.3213C>T (p.Thr1071=)
c.3189C>T (p.Thr1063=)
c.3024C>T (p.Thr1008=)
c.3186C>T (p.Thr1062=)
gnomAD
1g.16986809G>CCA416093545ATP13A2c.3231C>G (p.Thr1077=)
c.3099C>G (p.Thr1033=)
c.3216C>G (p.Thr1072=)
n.1105C>G
n.819C>G (p.Thr273=)
c.3228C>G (p.Thr1076=)
c.3204C>G (p.Thr1068=)
c.3171C>G (p.Thr1057=)
c.3114C>G (p.Thr1038=)
c.3213C>G (p.Thr1071=)
c.3189C>G (p.Thr1063=)
c.3024C>G (p.Thr1008=)
c.3186C>G (p.Thr1062=)
1g.16986809G=CA1156050325ATP13A2c.3231C= (p.Thr1077=)
c.3099C= (p.Thr1033=)
c.3216C= (p.Thr1072=)
n.1105C=
n.819C= (p.Thr273=)
c.3228C= (p.Thr1076=)
c.3204C= (p.Thr1068=)
c.3171C= (p.Thr1057=)
c.3114C= (p.Thr1038=)
c.3213C= (p.Thr1071=)
c.3189C= (p.Thr1063=)
c.3024C= (p.Thr1008=)
c.3186C= (p.Thr1062=)
1g.16986809G>TCA416093546ATP13A2c.3231C>A (p.Thr1077=)
c.3099C>A (p.Thr1033=)
c.3216C>A (p.Thr1072=)
n.1105C>A
n.819C>A (p.Thr273=)
c.3228C>A (p.Thr1076=)
c.3204C>A (p.Thr1068=)
c.3171C>A (p.Thr1057=)
c.3114C>A (p.Thr1038=)
c.3213C>A (p.Thr1071=)
c.3189C>A (p.Thr1063=)
c.3024C>A (p.Thr1008=)
c.3186C>A (p.Thr1062=)
1g.16986810G>ACA338233275ATP13A2c.3230C>T (p.Thr1077Ile)
c.3098C>T (p.Thr1033Ile)
c.3215C>T (p.Thr1072Ile)
n.1104C>T
n.818C>T (p.Thr273Ile)
c.3227C>T (p.Thr1076Ile)
c.3203C>T (p.Thr1068Ile)
c.3170C>T (p.Thr1057Ile)
c.3113C>T (p.Thr1038Ile)
c.3212C>T (p.Thr1071Ile)
c.3188C>T (p.Thr1063Ile)
c.3023C>T (p.Thr1008Ile)
c.3185C>T (p.Thr1062Ile)
gnomAD
1g.16986810G>CCA338233276ATP13A2c.3230C>G (p.Thr1077Ser)
c.3098C>G (p.Thr1033Ser)
c.3215C>G (p.Thr1072Ser)
n.1104C>G
n.818C>G (p.Thr273Ser)
c.3227C>G (p.Thr1076Ser)
c.3203C>G (p.Thr1068Ser)
c.3170C>G (p.Thr1057Ser)
c.3113C>G (p.Thr1038Ser)
c.3212C>G (p.Thr1071Ser)
c.3188C>G (p.Thr1063Ser)
c.3023C>G (p.Thr1008Ser)
c.3185C>G (p.Thr1062Ser)
1g.16986810G=CA1156050328ATP13A2c.3230C= (p.Thr1077=)
c.3098C= (p.Thr1033=)
c.3215C= (p.Thr1072=)
n.1104C=
n.818C= (p.Thr273=)
c.3227C= (p.Thr1076=)
c.3203C= (p.Thr1068=)
c.3170C= (p.Thr1057=)
c.3113C= (p.Thr1038=)
c.3212C= (p.Thr1071=)
c.3188C= (p.Thr1063=)
c.3023C= (p.Thr1008=)
c.3185C= (p.Thr1062=)
1g.16986810G>TCA338233277ATP13A2c.3230C>A (p.Thr1077Asn)
c.3098C>A (p.Thr1033Asn)
c.3215C>A (p.Thr1072Asn)
n.1104C>A
n.818C>A (p.Thr273Asn)
c.3227C>A (p.Thr1076Asn)
c.3203C>A (p.Thr1068Asn)
c.3170C>A (p.Thr1057Asn)
c.3113C>A (p.Thr1038Asn)
c.3212C>A (p.Thr1071Asn)
c.3188C>A (p.Thr1063Asn)
c.3023C>A (p.Thr1008Asn)
c.3185C>A (p.Thr1062Asn)
1g.16986811T>ACA338233279ATP13A2c.3229A>T (p.Thr1077Ser)
c.3097A>T (p.Thr1033Ser)
c.3214A>T (p.Thr1072Ser)
n.1103A>T
n.817A>T (p.Thr273Ser)
c.3226A>T (p.Thr1076Ser)
c.3202A>T (p.Thr1068Ser)
c.3169A>T (p.Thr1057Ser)
c.3112A>T (p.Thr1038Ser)
c.3211A>T (p.Thr1071Ser)
c.3187A>T (p.Thr1063Ser)
c.3022A>T (p.Thr1008Ser)
c.3184A>T (p.Thr1062Ser)

Number of alleles fetched