| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16986783_16986789delinsCCGCCCG | CA1156050270 | ATP13A2 | c.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.=) | |
| 1 | g.16986791_16986796del | CA1156050276 | ATP13A2 | c.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 |
| 1 | g.16986789G>A | CA636566 | ATP13A2 | c.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 |
| 1 | g.16986789G= | CA1143920169 | ATP13A2 | c.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.=) | |
| 1 | g.16986790C= | CA1156050289 | ATP13A2 | c.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.=) | |
| 1 | g.16986790C>T | CA636567 | ATP13A2 | c.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 |
| 1 | g.16986791G>A | CA636568 | ATP13A2 | c.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 |
| 1 | g.16986791G>C | CA18625597 | ATP13A2 | c.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 |
| 1 | g.16986791G= | CA1144123665 | ATP13A2 | c.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.=) | |
| 1 | g.16986792C= | CA1143652347 | ATP13A2 | c.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.=) | |
| 1 | g.16986792C>T | CA636569 | ATP13A2 | c.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 |
| 1 | g.16986793C>A | CA645671295 | ATP13A2 | c.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 |
| 1 | g.16986793C= | CA1156050302 | ATP13A2 | c.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.=) | |
| 1 | g.16986793C>T | CA18625604 | ATP13A2 | c.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 |
| 1 | g.16986794C>A | CA521449631 | ATP13A2 | c.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 |
| 1 | g.16986794C= | CA1156050309 | ATP13A2 | c.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.=) | |
| 1 | g.16986794C>G | CA521449632 | ATP13A2 | c.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 |
| 1 | g.16986794C>T | CA636570 | ATP13A2 | c.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 |
| 1 | g.16986795G>A | CA636571 | ATP13A2 | c.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 |
| 1 | g.16986795G= | CA1147287469 | ATP13A2 | c.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.=) | |
| 1 | g.16986803A>C | CA338233249 | ATP13A2 | c.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.=) | |
| 1 | g.16986803A>G | CA338233248 | ATP13A2 | c.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.=) | |
| 1 | g.16986803A>T | CA338233250 | ATP13A2 | c.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.=) | |
| 1 | g.16986804C>A | CA338233252 | ATP13A2 | c.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.=) | |
| 1 | g.16986804C>G | CA338233256 | ATP13A2 | c.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.=) | |
| 1 | g.16986804C>T | CA338233258 | ATP13A2 | c.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.=) | |
| 1 | g.16986805C>A | CA338233260 | ATP13A2 | c.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 |
| 1 | g.16986805C= | CA1156050316 | ATP13A2 | c.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=) | |
| 1 | g.16986805C>G | CA338233261 | ATP13A2 | c.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) | |
| 1 | g.16986805C>T | CA338233262 | ATP13A2 | c.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) | |
| 1 | g.16986806A= | CA1156050318 | ATP13A2 | c.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=) | |
| 1 | g.16986806A>C | CA338233263 | ATP13A2 | c.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) | |
| 1 | g.16986806A>G | CA416093540 | ATP13A2 | c.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 |
| 1 | g.16986806A>T | CA338233264 | ATP13A2 | c.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) | |
| 1 | g.16986807T>A | CA338233266 | ATP13A2 | c.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) | |
| 1 | g.16986807T>C | CA338233268 | ATP13A2 | c.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 |
| 1 | g.16986807T>G | CA338233269 | ATP13A2 | c.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) | |
| 1 | g.16986807T= | CA1156050322 | ATP13A2 | c.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=) | |
| 1 | g.16986808T>A | CA338233273 | ATP13A2 | c.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) | |
| 1 | g.16986808T>C | CA338233271 | ATP13A2 | c.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) | |
| 1 | g.16986808T>G | CA338233270 | ATP13A2 | c.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) | |
| 1 | g.16986809G>A | CA416093544 | ATP13A2 | c.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 |
| 1 | g.16986809G>C | CA416093545 | ATP13A2 | c.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=) | |
| 1 | g.16986809G= | CA1156050325 | ATP13A2 | c.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=) | |
| 1 | g.16986809G>T | CA416093546 | ATP13A2 | c.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=) | |
| 1 | g.16986810G>A | CA338233275 | ATP13A2 | c.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 |
| 1 | g.16986810G>C | CA338233276 | ATP13A2 | c.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) | |
| 1 | g.16986810G= | CA1156050328 | ATP13A2 | c.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=) | |
| 1 | g.16986810G>T | CA338233277 | ATP13A2 | c.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) | |
| 1 | g.16986811T>A | CA338233279 | ATP13A2 | c.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) |