| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17004805G>A | CA16043960 | ATP13A2 | c.364C>T (p.Gln122Ter) c.98C>T c.341C>T c.290C>T c.76C>T (p.Gln26Ter) c.-483C>T (n.-483C>T) | ClinVar dbSNP |
| 1 | g.17004805G>C | CA338263557 | ATP13A2 | c.364C>G (p.Gln122Glu) c.98C>G c.341C>G c.290C>G c.76C>G (p.Gln26Glu) c.-483C>G (n.-483C>G) | |
| 1 | g.17004805G= | CA1156072579 | ATP13A2 | c.364C= (p.Gln122=) c.98C= c.341C= c.290C= c.76C= (p.Gln26=) c.-483C= (n.-483C=) | |
| 1 | g.17004805G>T | CA338263559 | ATP13A2 | c.364C>A (p.Gln122Lys) c.98C>A c.341C>A c.290C>A c.76C>A (p.Gln26Lys) c.-483C>A (n.-483C>A) | gnomAD v4 |
| 1 | g.17004806T>A | CA416071661 | ATP13A2 | c.363A>T (p.Pro121=) c.97A>T c.340A>T c.289A>T c.75A>T (p.Pro25=) c.-484A>T (n.-484A>T) | |
| 1 | g.17004806T>C | CA416071667 | ATP13A2 | c.363A>G (p.Pro121=) c.97A>G c.340A>G c.289A>G c.75A>G (p.Pro25=) c.-484A>G (n.-484A>G) | |
| 1 | g.17004806T>G | CA416071665 | ATP13A2 | c.363A>C (p.Pro121=) c.97A>C c.340A>C c.289A>C c.75A>C (p.Pro25=) c.-484A>C (n.-484A>C) | |
| 1 | g.17004807G>A | CA338263563 | ATP13A2 | c.362C>T (p.Pro121Leu) c.96C>T c.339C>T c.288C>T c.74C>T (p.Pro25Leu) c.-485C>T (n.-485C>T) | |
| 1 | g.17004807G>C | CA338263565 | ATP13A2 | c.362C>G (p.Pro121Arg) c.96C>G c.339C>G c.288C>G c.74C>G (p.Pro25Arg) c.-485C>G (n.-485C>G) | |
| 1 | g.17004807G>T | CA338263561 | ATP13A2 | c.362C>A (p.Pro121Gln) c.96C>A c.339C>A c.288C>A c.74C>A (p.Pro25Gln) c.-485C>A (n.-485C>A) | |
| 1 | g.17004808G>A | CA338263566 | ATP13A2 | c.361C>T (p.Pro121Ser) c.95C>T c.338C>T c.287C>T c.73C>T (p.Pro25Ser) c.-486C>T (n.-486C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17004808G>C | CA338263567 | ATP13A2 | c.361C>G (p.Pro121Ala) c.95C>G c.338C>G c.287C>G c.73C>G (p.Pro25Ala) c.-486C>G (n.-486C>G) | |
| 1 | g.17004808G= | CA1156072584 | ATP13A2 | c.361C= (p.Pro121=) c.95C= c.338C= c.287C= c.73C= (p.Pro25=) c.-486C= (n.-486C=) | |
| 1 | g.17004808G>T | CA338263569 | ATP13A2 | c.361C>A (p.Pro121Thr) c.95C>A c.338C>A c.287C>A c.73C>A (p.Pro25Thr) c.-486C>A (n.-486C>A) | gnomAD v4 |
| 1 | g.17004808_17004812delinsGGGAC | CA1156072585 | ATP13A2 | c.357_361delinsGTCCC (p.Pro119=) c.91_95delinsGTCCC c.334_338delinsGTCCC c.283_287delinsGTCCC c.69_73delinsGTCCC (p.Pro23=) c.-490_-486delinsGTCCC (n.-490_-486delinsGTCCC) | |
| 1 | g.17004809G>A | CA416071689 | ATP13A2 | c.360C>T (p.Ser120=) c.94C>T c.337C>T c.286C>T c.72C>T (p.Ser24=) c.-487C>T (n.-487C>T) | |
| 1 | g.17004809G>C | CA416071691 | ATP13A2 | c.360C>G (p.Ser120=) c.94C>G c.337C>G c.286C>G c.72C>G (p.Ser24=) c.-487C>G (n.-487C>G) | |
| 1 | g.17004809G>T | CA416071692 | ATP13A2 | c.360C>A (p.Ser120=) c.94C>A c.337C>A c.286C>A c.72C>A (p.Ser24=) c.-487C>A (n.-487C>A) | |
| 1 | g.17004811_17004814del | CA890972802 | ATP13A2 | c.357_360del (p.Ser120HisfsTer?) c.91_94del c.334_337del c.283_286del c.69_72del (p.Ser24HisfsTer?) c.-490_-487del (n.-490_-487del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17004810G>A | CA338263573 | ATP13A2 | c.359C>T (p.Ser120Phe) c.93C>T c.336C>T c.285C>T c.71C>T (p.Ser24Phe) c.-488C>T (n.-488C>T) | |
| 1 | g.17004810G>C | CA338263574 | ATP13A2 | c.359C>G (p.Ser120Cys) c.93C>G c.336C>G c.285C>G c.71C>G (p.Ser24Cys) c.-488C>G (n.-488C>G) | |
| 1 | g.17004810G>T | CA338263576 | ATP13A2 | c.359C>A (p.Ser120Tyr) c.93C>A c.336C>A c.285C>A c.71C>A (p.Ser24Tyr) c.-488C>A (n.-488C>A) | |
| 1 | g.17004811A= | CA1156072589 | ATP13A2 | c.358T= (p.Ser120=) c.92T= c.335T= c.284T= c.70T= (p.Ser24=) c.-489T= (n.-489T=) | |
| 1 | g.17004811A>C | CA338263579 | ATP13A2 | c.358T>G (p.Ser120Ala) c.92T>G c.335T>G c.284T>G c.70T>G (p.Ser24Ala) c.-489T>G (n.-489T>G) | |
| 1 | g.17004811A>G | CA338263581 | ATP13A2 | c.358T>C (p.Ser120Pro) c.92T>C c.335T>C c.284T>C c.70T>C (p.Ser24Pro) c.-489T>C (n.-489T>C) | dbSNP gnomAD v4 |
| 1 | g.17004811A>T | CA338263582 | ATP13A2 | c.358T>A (p.Ser120Thr) c.92T>A c.335T>A c.284T>A c.70T>A (p.Ser24Thr) c.-489T>A (n.-489T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17004812C>A | CA416071706 | ATP13A2 | c.357G>T (p.Pro119=) c.91G>T c.334G>T c.283G>T c.69G>T (p.Pro23=) c.-490G>T (n.-490G>T) | COSMIC COSMIC |
| 1 | g.17004812C= | CA1141825754 | ATP13A2 | c.357G= (p.Pro119=) c.91G= c.334G= c.283G= c.69G= (p.Pro23=) c.-490G= (n.-490G=) | |
| 1 | g.17004812C>G | CA416071707 | ATP13A2 | c.357G>C (p.Pro119=) c.91G>C c.334G>C c.283G>C c.69G>C (p.Pro23=) c.-490G>C (n.-490G>C) | |
| 1 | g.17004812C>T | CA637659 | ATP13A2 | c.357G>A (p.Pro119=) c.91G>A c.334G>A c.283G>A c.69G>A (p.Pro23=) c.-490G>A (n.-490G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.17004813G>A | CA637660 | ATP13A2 | c.356C>T (p.Pro119Leu) c.90C>T c.333C>T c.282C>T c.68C>T (p.Pro23Leu) c.-491C>T (n.-491C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17004813G>C | CA338263584 | ATP13A2 | c.356C>G (p.Pro119Arg) c.90C>G c.333C>G c.282C>G c.68C>G (p.Pro23Arg) c.-491C>G (n.-491C>G) | |
| 1 | g.17004813G= | CA1156072595 | ATP13A2 | c.356C= (p.Pro119=) c.90C= c.333C= c.282C= c.68C= (p.Pro23=) c.-491C= (n.-491C=) | |
| 1 | g.17004813G>T | CA338263586 | ATP13A2 | c.356C>A (p.Pro119Gln) c.90C>A c.333C>A c.282C>A c.68C>A (p.Pro23Gln) c.-491C>A (n.-491C>A) | |
| 1 | g.17004814G>A | CA338263596 | ATP13A2 | c.355C>T (p.Pro119Ser) c.89C>T c.332C>T c.281C>T c.67C>T (p.Pro23Ser) c.-492C>T (n.-492C>T) | gnomAD v4 |
| 1 | g.17004814G>C | CA338263588 | ATP13A2 | c.355C>G (p.Pro119Ala) c.89C>G c.332C>G c.281C>G c.67C>G (p.Pro23Ala) c.-492C>G (n.-492C>G) | dbSNP gnomAD v4 |
| 1 | g.17004814G= | CA1156072600 | ATP13A2 | c.355C= (p.Pro119=) c.89C= c.332C= c.281C= c.67C= (p.Pro23=) c.-492C= (n.-492C=) | |
| 1 | g.17004814G>T | CA338263590 | ATP13A2 | c.355C>A (p.Pro119Thr) c.89C>A c.332C>A c.281C>A c.67C>A (p.Pro23Thr) c.-492C>A (n.-492C>A) | |
| 1 | g.17004815C>A | CA338263602 | ATP13A2 | c.354G>T (p.Glu118Asp) c.88G>T c.331G>T c.280G>T c.66G>T (p.Glu22Asp) c.-493G>T (n.-493G>T) | |
| 1 | g.17004815C>G | CA338263605 | ATP13A2 | c.354G>C (p.Glu118Asp) c.88G>C c.331G>C c.280G>C c.66G>C (p.Glu22Asp) c.-493G>C (n.-493G>C) | |
| 1 | g.17004815C>T | CA416071732 | ATP13A2 | c.354G>A (p.Glu118=) c.88G>A c.331G>A c.280G>A c.66G>A (p.Glu22=) c.-493G>A (n.-493G>A) | gnomAD v4 |
| 1 | g.17004816T>A | CA338263607 | ATP13A2 | c.353A>T (p.Glu118Val) c.87A>T c.330A>T c.279A>T c.65A>T (p.Glu22Val) c.-494A>T (n.-494A>T) | dbSNP gnomAD v2 |
| 1 | g.17004816T>C | CA338263610 | ATP13A2 | c.353A>G (p.Glu118Gly) c.87A>G c.330A>G c.279A>G c.65A>G (p.Glu22Gly) c.-494A>G (n.-494A>G) | |
| 1 | g.17004816T>G | CA338263613 | ATP13A2 | c.353A>C (p.Glu118Ala) c.87A>C c.330A>C c.279A>C c.65A>C (p.Glu22Ala) c.-494A>C (n.-494A>C) | |
| 1 | g.17004816T= | CA1156072604 | ATP13A2 | c.353A= (p.Glu118=) c.87A= c.330A= c.279A= c.65A= (p.Glu22=) c.-494A= (n.-494A=) | |
| 1 | g.17004817C>A | CA637662 | ATP13A2 | c.352G>T (p.Glu118Ter) c.86G>T c.329G>T c.278G>T c.64G>T (p.Glu22Ter) c.-495G>T (n.-495G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17004817C= | CA1156072610 | ATP13A2 | c.352G= (p.Glu118=) c.86G= c.329G= c.278G= c.64G= (p.Glu22=) c.-495G= (n.-495G=) | |
| 1 | g.17004817C>G | CA338263619 | ATP13A2 | c.352G>C (p.Glu118Gln) c.86G>C c.329G>C c.278G>C c.64G>C (p.Glu22Gln) c.-495G>C (n.-495G>C) | |
| 1 | g.17004817C>T | CA637661 | ATP13A2 | c.352G>A (p.Glu118Lys) c.86G>A c.329G>A c.278G>A c.64G>A (p.Glu22Lys) c.-495G>A (n.-495G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17004817_17004830delinsCCAGGCTGGGGAAG | CA1156072609 | ATP13A2 | c.348-9_352delinsCTTCCCCAGCCTGG c.82-9_86delinsCTTCCCCAGCCTGG c.325-9_329delinsCTTCCCCAGCCTGG c.274-9_278delinsCTTCCCCAGCCTGG c.60-9_64delinsCTTCCCCAGCCTGG c.-499-9_-495delinsCTTCCCCAGCCTGG |