UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.20638010_20638087dup | CA2643868797 | PINK1 | c.556_633dup (p.Ala211_Pro212insLysSerThrGlyLeuLeuProGlyArgGlyProGlyThrSerAlaProGlyGluGlyGlnGluArgAlaProGlyAla) | gnomAD v4 |
| 1 | g.20638015C>A | CA338857154 | PINK1 | c.561C>A (p.Ser187Arg) | |
| 1 | g.20638015C= | CA1157620553 | PINK1 | c.561C= (p.Ser187=) | |
| 1 | g.20638015C>G | CA338857156 | PINK1 | c.561C>G (p.Ser187Arg) | |
| 1 | g.20638015C>T | CA660455 | PINK1 | c.561C>T (p.Ser187=) | dbSNP ExAC gnomAD v2 |
| 1 | g.20638016A>C | CA338857167 | PINK1 | c.562A>C (p.Thr188Pro) | |
| 1 | g.20638016A>G | CA338857160 | PINK1 | c.562A>G (p.Thr188Ala) | |
| 1 | g.20638016A>T | CA338857162 | PINK1 | c.562A>T (p.Thr188Ser) | |
| 1 | g.20638017C>A | CA338857170 | PINK1 | c.563C>A (p.Thr188Asn) | |
| 1 | g.20638017C>G | CA338857174 | PINK1 | c.563C>G (p.Thr188Ser) | |
| 1 | g.20638017C>T | CA338857177 | PINK1 | c.563C>T (p.Thr188Ile) | gnomAD v4 |
| 1 | g.20638018del | CA2643868798 | PINK1 | c.564del (p.Leu190CysfsTer?) | gnomAD v4 |
| 1 | g.20638018C>A | CA416674622 | PINK1 | c.564C>A (p.Thr188=) | |
| 1 | g.20638018C= | CA1157620559 | PINK1 | c.564C= (p.Thr188=) | |
| 1 | g.20638018C>G | CA416674623 | PINK1 | c.564C>G (p.Thr188=) | |
| 1 | g.20638018C>T | CA660456 | PINK1 | c.564C>T (p.Thr188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638019G>A | CA660457 | PINK1 | c.565G>A (p.Gly189Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.20638019G>C | CA338857179 | PINK1 | c.565G>C (p.Gly189Arg) | |
| 1 | g.20638019G= | CA1157620585 | PINK1 | c.565G= (p.Gly189=) | |
| 1 | g.20638019G>T | CA338857181 | PINK1 | c.565G>T (p.Gly189Trp) | |
| 1 | g.20638020G>A | CA338857185 | PINK1 | c.566G>A (p.Gly189Glu) | |
| 1 | g.20638020G>C | CA338857189 | PINK1 | c.566G>C (p.Gly189Ala) | gnomAD v4 |
| 1 | g.20638020G>T | CA338857192 | PINK1 | c.566G>T (p.Gly189Val) | |
| 1 | g.20638021G>A | CA416674627 | PINK1 | c.567G>A (p.Gly189=) | dbSNP gnomAD v4 |
| 1 | g.20638021G>C | CA660458 | PINK1 | c.567G>C (p.Gly189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20638021G= | CA1157620586 | PINK1 | c.567G= (p.Gly189=) | |
| 1 | g.20638021G>T | CA416674626 | PINK1 | c.567G>T (p.Gly189=) | dbSNP |
| 1 | g.20638022T>A | CA338857201 | PINK1 | c.568T>A (p.Leu190Met) | |
| 1 | g.20638022T>C | CA416674628 | PINK1 | c.568T>C (p.Leu190=) | |
| 1 | g.20638022T>G | CA338857205 | PINK1 | c.568T>G (p.Leu190Val) | |
| 1 | g.20638023T>A | CA338857208 | PINK1 | c.569T>A (p.Leu190Ter) | |
| 1 | g.20638023T>C | CA338857214 | PINK1 | c.569T>C (p.Leu190Ser) | |
| 1 | g.20638023T>G | CA338857210 | PINK1 | c.569T>G (p.Leu190Trp) | |
| 1 | g.20638024G>A | CA416674631 | PINK1 | c.570G>A (p.Leu190=) | |
| 1 | g.20638024G>C | CA338857219 | PINK1 | c.570G>C (p.Leu190Phe) | |
| 1 | g.20638024G>T | CA338857223 | PINK1 | c.570G>T (p.Leu190Phe) | |
| 1 | g.20638025C>A | CA338857226 | PINK1 | c.571C>A (p.Leu191Ile) | |
| 1 | g.20638025C>G | CA338857229 | PINK1 | c.571C>G (p.Leu191Val) | |
| 1 | g.20638025C>T | CA338857232 | PINK1 | c.571C>T (p.Leu191Phe) | gnomAD v4 |
| 1 | g.20638026T>A | CA338857235 | PINK1 | c.572T>A (p.Leu191His) | |
| 1 | g.20638026T>C | CA338857234 | PINK1 | c.572T>C (p.Leu191Pro) | |
| 1 | g.20638026T>G | CA338857233 | PINK1 | c.572T>G (p.Leu191Arg) | |
| 1 | g.20638027T>A | CA416674635 | PINK1 | c.573T>A (p.Leu191=) | |
| 1 | g.20638027T>C | CA416674636 | PINK1 | c.573T>C (p.Leu191=) | |
| 1 | g.20638027T>G | CA416674637 | PINK1 | c.573T>G (p.Leu191=) | |
| 1 | g.20638028C>A | CA338857238 | PINK1 | c.574C>A (p.Pro192Thr) | |
| 1 | g.20638028C>G | CA338857248 | PINK1 | c.574C>G (p.Pro192Ala) | |
| 1 | g.20638028C>T | CA338857250 | PINK1 | c.574C>T (p.Pro192Ser) | gnomAD v4 |
| 1 | g.20638029C>A | CA338857259 | PINK1 | c.575C>A (p.Pro192Gln) | |
| 1 | g.20638029C>G | CA338857265 | PINK1 | c.575C>G (p.Pro192Arg) | |
| 1 | g.20638029C>T | CA338857266 | PINK1 | c.575C>T (p.Pro192Leu) | |
| 1 | g.20638030A>C | CA416674639 | PINK1 | c.576A>C (p.Pro192=) | |
| 1 | g.20638030A>G | CA416674641 | PINK1 | c.576A>G (p.Pro192=) | |
| 1 | g.20638030A>T | CA416674640 | PINK1 | c.576A>T (p.Pro192=) | |
| 1 | g.20638031G>A | CA660459 | PINK1 | c.577G>A (p.Gly193Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638031G>C | CA338857281 | PINK1 | c.577G>C (p.Gly193Arg) | |
| 1 | g.20638031G= | CA1145506225 | PINK1 | c.577G= (p.Gly193=) | |
| 1 | g.20638031G>T | CA338857276 | PINK1 | c.577G>T (p.Gly193Trp) | |
| 1 | g.20638032G>A | CA338857288 | PINK1 | c.578G>A (p.Gly193Glu) | |
| 1 | g.20638032G>C | CA338857291 | PINK1 | c.578G>C (p.Gly193Ala) | |
| 1 | g.20638032G>T | CA338857296 | PINK1 | c.578G>T (p.Gly193Val) | |
| 1 | g.20638033G>A | CA416674647 | PINK1 | c.579G>A (p.Gly193=) | |
| 1 | g.20638033G>C | CA416674643 | PINK1 | c.579G>C (p.Gly193=) | |
| 1 | g.20638033G>T | CA416674645 | PINK1 | c.579G>T (p.Gly193=) | |
| 1 | g.20638034A>C | CA416674648 | PINK1 | c.580A>C (p.Arg194=) | |
| 1 | g.20638034A>G | CA338857303 | PINK1 | c.580A>G (p.Arg194Gly) | |
| 1 | g.20638034A>T | CA338857306 | PINK1 | c.580A>T (p.Arg194Ter) | |
| 1 | g.20638035G>A | CA338857307 | PINK1 | c.581G>A (p.Arg194Lys) | gnomAD v4 |
| 1 | g.20638035G>C | CA338857308 | PINK1 | c.581G>C (p.Arg194Thr) | |
| 1 | g.20638035G>T | CA338857309 | PINK1 | c.581G>T (p.Arg194Ile) | |
| 1 | g.20638036A>C | CA338857315 | PINK1 | c.582A>C (p.Arg194Ser) | |
| 1 | g.20638036A>G | CA416674651 | PINK1 | c.582A>G (p.Arg194=) | |
| 1 | g.20638036A>T | CA338857319 | PINK1 | c.582A>T (p.Arg194Ser) | |
| 1 | g.20638037G>A | CA338857338 | PINK1 | c.583G>A (p.Gly195Ser) | |
| 1 | g.20638037G>C | CA338857328 | PINK1 | c.583G>C (p.Gly195Arg) | |
| 1 | g.20638037G>T | CA338857324 | PINK1 | c.583G>T (p.Gly195Cys) | |
| 1 | g.20638038G>A | CA18990012 | PINK1 | c.584G>A (p.Gly195Asp) | dbSNP gnomAD v4 |
| 1 | g.20638038G>C | CA338857362 | PINK1 | c.584G>C (p.Gly195Ala) | |
| 1 | g.20638038G= | CA1147528977 | PINK1 | c.584G= (p.Gly195=) | |
| 1 | g.20638038G>T | CA338857359 | PINK1 | c.584G>T (p.Gly195Val) | |
| 1 | g.20638039C>A | CA416674654 | PINK1 | c.585C>A (p.Gly195=) | |
| 1 | g.20638039C= | CA1157620597 | PINK1 | c.585C= (p.Gly195=) | |
| 1 | g.20638039C>G | CA416674656 | PINK1 | c.585C>G (p.Gly195=) | |
| 1 | g.20638039C>T | CA416674658 | PINK1 | c.585C>T (p.Gly195=) | dbSNP |
| 1 | g.20638041del | CA2586966201 | PINK1 | c.587del (p.Pro196GlnfsTer25) | |
| 1 | g.20638040C>A | CA338857367 | PINK1 | c.586C>A (p.Pro196Thr) | |
| 1 | g.20638040C= | CA1140590134 | PINK1 | c.586C= (p.Pro196=) | |
| 1 | g.20638040C>G | CA338857372 | PINK1 | c.586C>G (p.Pro196Ala) | |
| 1 | g.20638040C>T | CA660460 | PINK1 | c.586C>T (p.Pro196Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.20638041C>A | CA338857377 | PINK1 | c.587C>A (p.Pro196Gln) | |
| 1 | g.20638041C= | CA1141608440 | PINK1 | c.587C= (p.Pro196=) | |
| 1 | g.20638041C>G | CA338857385 | PINK1 | c.587C>G (p.Pro196Arg) | |
| 1 | g.20638041C>T | CA660461 | PINK1 | c.587C>T (p.Pro196Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638042A= | CA1157620612 | PINK1 | c.588A= (p.Pro196=) | |
| 1 | g.20638042A>C | CA416674659 | PINK1 | c.588A>C (p.Pro196=) | |
| 1 | g.20638042A>G | CA416674661 | PINK1 | c.588A>G (p.Pro196=) | |
| 1 | g.20638042A>T | CA416674660 | PINK1 | c.588A>T (p.Pro196=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20638043G>A | CA338857388 | PINK1 | c.589G>A (p.Gly197Ser) | gnomAD v4 |
| 1 | g.20638043G>C | CA338857391 | PINK1 | c.589G>C (p.Gly197Arg) | |
| 1 | g.20638043G>T | CA338857401 | PINK1 | c.589G>T (p.Gly197Cys) | gnomAD v4 |
| 1 | g.20638044G>A | CA338857405 | PINK1 | c.590G>A (p.Gly197Asp) | gnomAD v4 |
| 1 | g.20638044G>C | CA338857416 | PINK1 | c.590G>C (p.Gly197Ala) | |
| 1 | g.20638044G= | CA1157620621 | PINK1 | c.590G= (p.Gly197=) | |
| 1 | g.20638044G>T | CA338857418 | PINK1 | c.590G>T (p.Gly197Val) | dbSNP |
| 1 | g.20638045T>A | CA416674663 | PINK1 | c.591T>A (p.Gly197=) | |
| 1 | g.20638045T>C | CA416674664 | PINK1 | c.591T>C (p.Gly197=) | dbSNP |
| 1 | g.20638045T>G | CA416674666 | PINK1 | c.591T>G (p.Gly197=) | |
| 1 | g.20638045T= | CA1157620629 | PINK1 | c.591T= (p.Gly197=) | |
| 1 | g.20638046A>C | CA338857426 | PINK1 | c.592A>C (p.Thr198Pro) | |
| 1 | g.20638046A>G | CA338857429 | PINK1 | c.592A>G (p.Thr198Ala) | |
| 1 | g.20638046A>T | CA338857433 | PINK1 | c.592A>T (p.Thr198Ser) | |
| 1 | g.20638047C>A | CA338857438 | PINK1 | c.593C>A (p.Thr198Asn) | |
| 1 | g.20638047C>G | CA338857444 | PINK1 | c.593C>G (p.Thr198Ser) | |
| 1 | g.20638047C>T | CA338857447 | PINK1 | c.593C>T (p.Thr198Ile) | |
| 1 | g.20638048C>A | CA416674667 | PINK1 | c.594C>A (p.Thr198=) | |
| 1 | g.20638048C= | CA1148478415 | PINK1 | c.594C= (p.Thr198=) | |
| 1 | g.20638048C>G | CA660462 | PINK1 | c.594C>G (p.Thr198=) | dbSNP ExAC gnomAD v2 |
| 1 | g.20638048C>T | CA416674670 | PINK1 | c.594C>T (p.Thr198=) | gnomAD v4 |
| 1 | g.20638049A= | CA1157620635 | PINK1 | c.595A= (p.Ser199=) | |
| 1 | g.20638049A>C | CA338857454 | PINK1 | c.595A>C (p.Ser199Arg) | dbSNP gnomAD v4 |
| 1 | g.20638049A>G | CA338857458 | PINK1 | c.595A>G (p.Ser199Gly) | dbSNP |
| 1 | g.20638049A>T | CA338857473 | PINK1 | c.595A>T (p.Ser199Cys) | |
| 1 | g.20638050G>A | CA338857481 | PINK1 | c.596G>A (p.Ser199Asn) | |
| 1 | g.20638050G>C | CA660463 | PINK1 | c.596G>C (p.Ser199Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638050G= | CA1144001207 | PINK1 | c.596G= (p.Ser199=) | |
| 1 | g.20638050G>T | CA338857486 | PINK1 | c.596G>T (p.Ser199Ile) | |
| 1 | g.20638051T>A | CA338857494 | PINK1 | c.597T>A (p.Ser199Arg) | |
| 1 | g.20638051T>C | CA416674671 | PINK1 | c.597T>C (p.Ser199=) | gnomAD v4 |
| 1 | g.20638051T>G | CA338857495 | PINK1 | c.597T>G (p.Ser199Arg) | gnomAD v4 |
| 1 | g.20638052G>A | CA338857496 | PINK1 | c.598G>A (p.Ala200Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20638052G>C | CA338857499 | PINK1 | c.598G>C (p.Ala200Pro) | |
| 1 | g.20638052G= | CA1157620640 | PINK1 | c.598G= (p.Ala200=) | |
| 1 | g.20638052G>T | CA338857508 | PINK1 | c.598G>T (p.Ala200Ser) | |
| 1 | g.20638052_20638053delinsGC | CA1157620642 | PINK1 | c.598_599delinsGC (p.Ala200=) | |
| 1 | g.20638053del | CA891842427 | PINK1 | c.599del (p.Ala200AspfsTer21) | ClinVar dbSNP gnomAD v4 |
| 1 | g.20638053C>A | CA338857513 | PINK1 | c.599C>A (p.Ala200Glu) | |
| 1 | g.20638053C= | CA1142326181 | PINK1 | c.599C= (p.Ala200=) | |
| 1 | g.20638053C>G | CA338857512 | PINK1 | c.599C>G (p.Ala200Gly) | |
| 1 | g.20638053C>T | CA660464 | PINK1 | c.599C>T (p.Ala200Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638054A= | CA1157620652 | PINK1 | c.600A= (p.Ala200=) | |
| 1 | g.20638054A>C | CA18990014 | PINK1 | c.600A>C (p.Ala200=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.20638054A>G | CA416674675 | PINK1 | c.600A>G (p.Ala200=) | |
| 1 | g.20638054A>T | CA416674673 | PINK1 | c.600A>T (p.Ala200=) | |
| 1 | g.20638055C>A | CA338857517 | PINK1 | c.601C>A (p.Pro201Thr) | |
| 1 | g.20638055C>G | CA338857518 | PINK1 | c.601C>G (p.Pro201Ala) | |
| 1 | g.20638055C>T | CA338857520 | PINK1 | c.601C>T (p.Pro201Ser) | gnomAD v4 |
| 1 | g.20638056C>A | CA338857524 | PINK1 | c.602C>A (p.Pro201Gln) | |
| 1 | g.20638056C>G | CA338857525 | PINK1 | c.602C>G (p.Pro201Arg) | |
| 1 | g.20638056C>T | CA338857530 | PINK1 | c.602C>T (p.Pro201Leu) | COSMIC |
| 1 | g.20638056_20638059delinsCAGG | CA1157620656 | PINK1 | c.602_605delinsCAGG (p.Pro201=) | |
| 1 | g.20638057A>C | CA416674680 | PINK1 | c.603A>C (p.Pro201=) | |
| 1 | g.20638057A>G | CA416674678 | PINK1 | c.603A>G (p.Pro201=) | gnomAD v4 |
| 1 | g.20638057A>T | CA416674679 | PINK1 | c.603A>T (p.Pro201=) | |
| 1 | g.20638059_20638061del | CA521898720 | PINK1 | c.605_607del (p.Gly202del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638058G>A | CA338857531 | PINK1 | c.604G>A (p.Gly202Arg) | dbSNP |
| 1 | g.20638058G>C | CA338857532 | PINK1 | c.604G>C (p.Gly202Arg) | |
| 1 | g.20638058G= | CA1157620664 | PINK1 | c.604G= (p.Gly202=) | |
| 1 | g.20638058G>T | CA338857535 | PINK1 | c.604G>T (p.Gly202Ter) | |
| 1 | g.20638059G>A | CA338857537 | PINK1 | c.605G>A (p.Gly202Glu) | |
| 1 | g.20638059G>C | CA338857540 | PINK1 | c.605G>C (p.Gly202Ala) | |
| 1 | g.20638059G>T | CA338857550 | PINK1 | c.605G>T (p.Gly202Val) | |
| 1 | g.20638060A= | CA1157620667 | PINK1 | c.606A= (p.Gly202=) | |
| 1 | g.20638060A>C | CA416674684 | PINK1 | c.606A>C (p.Gly202=) | |
| 1 | g.20638060A>G | CA660465 | PINK1 | c.606A>G (p.Gly202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638060A>T | CA416674685 | PINK1 | c.606A>T (p.Gly202=) | |
| 1 | g.20638061G>A | CA338857557 | PINK1 | c.607G>A (p.Glu203Lys) | |
| 1 | g.20638061G>C | CA338857560 | PINK1 | c.607G>C (p.Glu203Gln) | |
| 1 | g.20638061G>T | CA338857559 | PINK1 | c.607G>T (p.Glu203Ter) | gnomAD v4 |
| 1 | g.20638062A>C | CA338857562 | PINK1 | c.608A>C (p.Glu203Ala) | |
| 1 | g.20638062A>G | CA338857566 | PINK1 | c.608A>G (p.Glu203Gly) | |
| 1 | g.20638062A>T | CA338857569 | PINK1 | c.608A>T (p.Glu203Val) | |
| 1 | g.20638063A>C | CA338857572 | PINK1 | c.609A>C (p.Glu203Asp) | COSMIC |
| 1 | g.20638063A>G | CA416674688 | PINK1 | c.609A>G (p.Glu203=) | |
| 1 | g.20638063A>T | CA338857574 | PINK1 | c.609A>T (p.Glu203Asp) | |
| 1 | g.20638064G>A | CA338857576 | PINK1 | c.610G>A (p.Gly204Arg) | |
| 1 | g.20638064G>C | CA338857577 | PINK1 | c.610G>C (p.Gly204Arg) | |
| 1 | g.20638064G>T | CA338857578 | PINK1 | c.610G>T (p.Gly204Trp) | |
| 1 | g.20638065G>A | CA338857581 | PINK1 | c.611G>A (p.Gly204Glu) | |
| 1 | g.20638065G>C | CA338857583 | PINK1 | c.611G>C (p.Gly204Ala) | dbSNP |
| 1 | g.20638065G= | CA1157620679 | PINK1 | c.611G= (p.Gly204=) | |
| 1 | g.20638065G>T | CA338857586 | PINK1 | c.611G>T (p.Gly204Val) | |
| 1 | g.20638066G>A | CA416674692 | PINK1 | c.612G>A (p.Gly204=) | |
| 1 | g.20638066G>C | CA416674693 | PINK1 | c.612G>C (p.Gly204=) | |
| 1 | g.20638066G>T | CA416674694 | PINK1 | c.612G>T (p.Gly204=) | |
| 1 | g.20638067C>A | CA338857595 | PINK1 | c.613C>A (p.Gln205Lys) | |
| 1 | g.20638067C= | CA1157620683 | PINK1 | c.613C= (p.Gln205=) | |
| 1 | g.20638067C>G | CA338857592 | PINK1 | c.613C>G (p.Gln205Glu) | |
| 1 | g.20638067C>T | CA18990019 | PINK1 | c.613C>T (p.Gln205Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20638068A= | CA1143543716 | PINK1 | c.614A= (p.Gln205=) | |
| 1 | g.20638068A>C | CA338857598 | PINK1 | c.614A>C (p.Gln205Pro) | |
| 1 | g.20638068A>G | CA18990021 | PINK1 | c.614A>G (p.Gln205Arg) | dbSNP |
| 1 | g.20638068A>T | CA338857599 | PINK1 | c.614A>T (p.Gln205Leu) | |
| 1 | g.20638069G>A | CA18990022 | PINK1 | c.615G>A (p.Gln205=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20638069G>C | CA338857604 | PINK1 | c.615G>C (p.Gln205His) | |
| 1 | g.20638069G= | CA1143598033 | PINK1 | c.615G= (p.Gln205=) | |
| 1 | g.20638069G>T | CA338857607 | PINK1 | c.615G>T (p.Gln205His) | |
| 1 | g.20638070G>A | CA660466 | PINK1 | c.616G>A (p.Glu206Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20638070G>C | CA338857611 | PINK1 | c.616G>C (p.Glu206Gln) | |
| 1 | g.20638070G= | CA1157620693 | PINK1 | c.616G= (p.Glu206=) | |
| 1 | g.20638070G>T | CA338857616 | PINK1 | c.616G>T (p.Glu206Ter) | |
| 1 | g.20638071A>C | CA338857619 | PINK1 | c.617A>C (p.Glu206Ala) | COSMIC |
| 1 | g.20638071A>G | CA338857622 | PINK1 | c.617A>G (p.Glu206Gly) | |
| 1 | g.20638071A>T | CA338857625 | PINK1 | c.617A>T (p.Glu206Val) | |
| 1 | g.20638072G>A | CA416674701 | PINK1 | c.618G>A (p.Glu206=) | gnomAD v4 |
| 1 | g.20638072G>C | CA338857627 | PINK1 | c.618G>C (p.Glu206Asp) | |
| 1 | g.20638072G>T | CA338857630 | PINK1 | c.618G>T (p.Glu206Asp) | |
| 1 | g.20638073C>A | CA416674704 | PINK1 | c.619C>A (p.Arg207=) | |
| 1 | g.20638073C= | CA1157620700 | PINK1 | c.619C= (p.Arg207=) | |
| 1 | g.20638073C>G | CA338857632 | PINK1 | c.619C>G (p.Arg207Gly) | |
| 1 | g.20638073C>T | CA660467 | PINK1 | c.619C>T (p.Arg207Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20638073_20638074delinsCG | CA1157620696 | PINK1 | c.619_620delinsCG (p.Arg207=) | |
| 1 | g.20638074del | CA274494 | PINK1 | c.620del (p.Arg207GlnfsTer14) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.20638074G>A | CA660468 | PINK1 | c.620G>A (p.Arg207Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638074G>C | CA338857640 | PINK1 | c.620G>C (p.Arg207Pro) | |
| 1 | g.20638074G= | CA1157620711 | PINK1 | c.620G= (p.Arg207=) | |
| 1 | g.20638074G>T | CA338857638 | PINK1 | c.620G>T (p.Arg207Leu) | gnomAD v4 |
| 1 | g.20638075A>C | CA416674706 | PINK1 | c.621A>C (p.Arg207=) | |
| 1 | g.20638075A>G | CA416674709 | PINK1 | c.621A>G (p.Arg207=) | |
| 1 | g.20638075A>T | CA416674707 | PINK1 | c.621A>T (p.Arg207=) | |
| 1 | g.20638076G>A | CA338857644 | PINK1 | c.622G>A (p.Ala208Thr) | |
| 1 | g.20638076G>C | CA338857649 | PINK1 | c.622G>C (p.Ala208Pro) | |
| 1 | g.20638076G>T | CA338857651 | PINK1 | c.622G>T (p.Ala208Ser) | |
| 1 | g.20638077C>A | CA338857653 | PINK1 | c.623C>A (p.Ala208Asp) | |
| 1 | g.20638077C>G | CA338857655 | PINK1 | c.623C>G (p.Ala208Gly) | |
| 1 | g.20638077C>T | CA338857658 | PINK1 | c.623C>T (p.Ala208Val) | gnomAD v4 |
| 1 | g.20638078T>A | CA416674715 | PINK1 | c.624T>A (p.Ala208=) | |
| 1 | g.20638078T>C | CA416674712 | PINK1 | c.624T>C (p.Ala208=) | ClinVar dbSNP |
| 1 | g.20638078T>G | CA416674713 | PINK1 | c.624T>G (p.Ala208=) | |
| 1 | g.20638079C>A | CA338857661 | PINK1 | c.625C>A (p.Pro209Thr) | |
| 1 | g.20638079C= | CA1140474562 | PINK1 | c.625C= (p.Pro209=) | |
| 1 | g.20638079C>G | CA18990034 | PINK1 | c.625C>G (p.Pro209Ala) | dbSNP |
| 1 | g.20638079C>T | CA338857665 | PINK1 | c.625C>T (p.Pro209Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.20638080del | CA2643868802 | PINK1 | c.626del (p.Pro209ArgfsTer12) | gnomAD v4 |
| 1 | g.20638080C>A | CA338857685 | PINK1 | c.626C>A (p.Pro209Gln) | |
| 1 | g.20638080C= | CA1140532293 | PINK1 | c.626C= (p.Pro209=) | |
| 1 | g.20638080C>G | CA338857686 | PINK1 | c.626C>G (p.Pro209Arg) | dbSNP |
| 1 | g.20638080C>T | CA660469 | PINK1 | c.626C>T (p.Pro209Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638081G>A | CA660470 | PINK1 | c.627G>A (p.Pro209=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.20638081G>C | CA416674717 | PINK1 | c.627G>C (p.Pro209=) | |
| 1 | g.20638081G= | CA1157620722 | PINK1 | c.627G= (p.Pro209=) | |
| 1 | g.20638081G>T | CA416674718 | PINK1 | c.627G>T (p.Pro209=) | |
| 1 | g.20638085dup | CA2643868804 | PINK1 | c.631dup (p.Ala211GlyfsTer?) | gnomAD v4 |
| 1 | g.20638085del | CA645512716 | PINK1 | c.631del (p.Ala211ProfsTer10) | gnomAD v4 COSMIC |
| 1 | g.20638082G>A | CA338857689 | PINK1 | c.628G>A (p.Gly210Arg) | gnomAD v4 |
| 1 | g.20638082G>C | CA338857692 | PINK1 | c.628G>C (p.Gly210Arg) | dbSNP gnomAD v2 |
| 1 | g.20638082G= | CA1157620737 | PINK1 | c.628G= (p.Gly210=) | |
| 1 | g.20638082G>T | CA338857694 | PINK1 | c.628G>T (p.Gly210Trp) | |
| 1 | g.20638083G>A | CA338857698 | PINK1 | c.629G>A (p.Gly210Glu) | |
| 1 | g.20638083G>C | CA338857700 | PINK1 | c.629G>C (p.Gly210Ala) | |
| 1 | g.20638083G>T | CA338857702 | PINK1 | c.629G>T (p.Gly210Val) | |
| 1 | g.20638084G>A | CA416674720 | PINK1 | c.630G>A (p.Gly210=) | ClinVar gnomAD v4 |
| 1 | g.20638084G>C | CA416674721 | PINK1 | c.630G>C (p.Gly210=) | |
| 1 | g.20638084G>T | CA416674722 | PINK1 | c.630G>T (p.Gly210=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.20638085G>A | CA660471 | PINK1 | c.631G>A (p.Ala211Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638085G>C | CA338857705 | PINK1 | c.631G>C (p.Ala211Pro) | |
| 1 | g.20638085G= | CA1143512115 | PINK1 | c.631G= (p.Ala211=) | |
| 1 | g.20638085G>T | CA18990044 | PINK1 | c.631G>T (p.Ala211Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638086C>A | CA338857711 | PINK1 | c.632C>A (p.Ala211Asp) | |
| 1 | g.20638086C= | CA1157620750 | PINK1 | c.632C= (p.Ala211=) | |
| 1 | g.20638086C>G | CA338857716 | PINK1 | c.632C>G (p.Ala211Gly) | |
| 1 | g.20638086C>T | CA338857719 | PINK1 | c.632C>T (p.Ala211Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20638087C>A | CA416674723 | PINK1 | c.633C>A (p.Ala211=) | |
| 1 | g.20638087C= | CA1157620752 | PINK1 | c.633C= (p.Ala211=) | |
| 1 | g.20638087C>G | CA416674725 | PINK1 | c.633C>G (p.Ala211=) | |
| 1 | g.20638087C>T | CA416674726 | PINK1 | c.633C>T (p.Ala211=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20638088C>A | CA338857727 | PINK1 | c.634C>A (p.Pro212Thr) | |
| 1 | g.20638088C= | CA1157620758 | PINK1 | c.634C= (p.Pro212=) | |
| 1 | g.20638088C>G | CA338857726 | PINK1 | c.634C>G (p.Pro212Ala) | |
| 1 | g.20638088C>T | CA338857723 | PINK1 | c.634C>T (p.Pro212Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.20638089C>A | CA338857728 | PINK1 | c.635C>A (p.Pro212His) | |
| 1 | g.20638089C= | CA1157620763 | PINK1 | c.635C= (p.Pro212=) | |
| 1 | g.20638089C>G | CA338857729 | PINK1 | c.635C>G (p.Pro212Arg) | |
| 1 | g.20638089C>T | CA338857731 | PINK1 | c.635C>T (p.Pro212Leu) | dbSNP gnomAD v4 |
| 1 | g.20638090T>A | CA416674730 | PINK1 | c.636T>A (p.Pro212=) | |
| 1 | g.20638090T>C | CA416674728 | PINK1 | c.636T>C (p.Pro212=) | |
| 1 | g.20638090T>G | CA416674729 | PINK1 | c.636T>G (p.Pro212=) | |
| 1 | g.20638091G>A | CA338857734 | PINK1 | c.637G>A (p.Ala213Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.20638091G>C | CA338857737 | PINK1 | c.637G>C (p.Ala213Pro) | gnomAD v4 |
| 1 | g.20638091G= | CA1157620768 | PINK1 | c.637G= (p.Ala213=) | |
| 1 | g.20638091G>T | CA338857740 | PINK1 | c.637G>T (p.Ala213Ser) | |
| 1 | g.20638092C>A | CA660472 | PINK1 | c.638C>A (p.Ala213Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20638092C= | CA1157620772 | PINK1 | c.638C= (p.Ala213=) | |
| 1 | g.20638092C>G | CA338857747 | PINK1 | c.638C>G (p.Ala213Gly) | |
| 1 | g.20638092C>T | CA338857750 | PINK1 | c.638C>T (p.Ala213Val) | |
| 1 | g.20638093C>A | CA416674734 | PINK1 | c.639C>A (p.Ala213=) | |
| 1 | g.20638093C= | CA1141692813 | PINK1 | c.639C= (p.Ala213=) | |
| 1 | g.20638093C>G | CA416674735 | PINK1 | c.639C>G (p.Ala213=) | dbSNP gnomAD v4 |
| 1 | g.20638093C>T | CA660473 | PINK1 | c.639C>T (p.Ala213=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.20638094T>A | CA338857754 | PINK1 | c.640T>A (p.Phe214Ile) | |
| 1 | g.20638094T>C | CA338857756 | PINK1 | c.640T>C (p.Phe214Leu) | |
| 1 | g.20638094T>G | CA338857759 | PINK1 | c.640T>G (p.Phe214Val) | |
| 1 | g.20638095T>A | CA338857770 | PINK1 | c.641T>A (p.Phe214Tyr) | |
| 1 | g.20638095T>C | CA338857779 | PINK1 | c.641T>C (p.Phe214Ser) | |
| 1 | g.20638095T>G | CA338857767 | PINK1 | c.641T>G (p.Phe214Cys) | |
| 1 | g.20638096C>A | CA338857782 | PINK1 | c.642C>A (p.Phe214Leu) | |
| 1 | g.20638096C>G | CA338857785 | PINK1 | c.642C>G (p.Phe214Leu) | |
| 1 | g.20638096C>T | CA416674737 | PINK1 | c.642C>T (p.Phe214=) | |
| 1 | g.20638097C>A | CA338857787 | PINK1 | c.643C>A (p.Pro215Thr) | |
| 1 | g.20638097C>G | CA338857795 | PINK1 | c.643C>G (p.Pro215Ala) | |
| 1 | g.20638097C>T | CA338857798 | PINK1 | c.643C>T (p.Pro215Ser) | |
| 1 | g.20638098C>A | CA338857799 | PINK1 | c.644C>A (p.Pro215His) | |
| 1 | g.20638098C= | CA1143823295 | PINK1 | c.644C= (p.Pro215=) | |
| 1 | g.20638098C>G | CA660474 | PINK1 | c.644C>G (p.Pro215Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638098C>T | CA267233 | PINK1 | c.644C>T (p.Pro215Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.20638099C>A | CA416674738 | PINK1 | c.645C>A (p.Pro215=) | |
| 1 | g.20638099C>G | CA416674740 | PINK1 | c.645C>G (p.Pro215=) | |
| 1 | g.20638099C>T | CA416674739 | PINK1 | c.645C>T (p.Pro215=) | gnomAD v4 |
| 1 | g.20638100T>A | CA338857805 | PINK1 | c.646T>A (p.Leu216Met) | |
| 1 | g.20638100T>C | CA416674741 | PINK1 | c.646T>C (p.Leu216=) | |
| 1 | g.20638100T>G | CA338857809 | PINK1 | c.646T>G (p.Leu216Val) | |
| 1 | g.20638101T>A | CA338857811 | PINK1 | c.647T>A (p.Leu216Ter) | |
| 1 | g.20638101T>C | CA338857814 | PINK1 | c.647T>C (p.Leu216Ser) | |
| 1 | g.20638101T>G | CA338857817 | PINK1 | c.647T>G (p.Leu216Trp) | |
| 1 | g.20638102G>A | CA416674743 | PINK1 | c.648G>A (p.Leu216=) | dbSNP gnomAD v4 |
| 1 | g.20638102G>C | CA338857823 | PINK1 | c.648G>C (p.Leu216Phe) | gnomAD v4 |
| 1 | g.20638102G>T | CA338857826 | PINK1 | c.648G>T (p.Leu216Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.20638103G>A | CA660475 | PINK1 | c.649G>A (p.Ala217Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638103G>C | CA338857830 | PINK1 | c.649G>C (p.Ala217Pro) | |
| 1 | g.20638103G= | CA1144268634 | PINK1 | c.649G= (p.Ala217=) | |
| 1 | g.20638103G>T | CA660476 | PINK1 | c.649G>T (p.Ala217Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638104C>A | CA252277 | PINK1 | c.650C>A (p.Ala217Asp) | ClinVar dbSNP |
| 1 | g.20638104C= | CA1140886388 | PINK1 | c.650C= (p.Ala217=) | |
| 1 | g.20638104C>G | CA338857833 | PINK1 | c.650C>G (p.Ala217Gly) | |
| 1 | g.20638104C>T | CA338857835 | PINK1 | c.650C>T (p.Ala217Val) | |
| 1 | g.20638105C>A | CA416674745 | PINK1 | c.651C>A (p.Ala217=) | dbSNP |
| 1 | g.20638105C= | CA1157620798 | PINK1 | c.651C= (p.Ala217=) | |
| 1 | g.20638105C>G | CA416674747 | PINK1 | c.651C>G (p.Ala217=) | |
| 1 | g.20638105C>T | CA416674748 | PINK1 | c.651C>T (p.Ala217=) | |
| 1 | g.20638106A>C | CA338857840 | PINK1 | c.652A>C (p.Ile218Leu) | COSMIC |
| 1 | g.20638106A>G | CA338857853 | PINK1 | c.652A>G (p.Ile218Val) | |
| 1 | g.20638106A>T | CA338857860 | PINK1 | c.652A>T (p.Ile218Phe) | |
| 1 | g.20638107T>A | CA338857864 | PINK1 | c.653T>A (p.Ile218Asn) | |
| 1 | g.20638107T>C | CA338857867 | PINK1 | c.653T>C (p.Ile218Thr) | |
| 1 | g.20638107T>G | CA338857869 | PINK1 | c.653T>G (p.Ile218Ser) | |
| 1 | g.20638108C>A | CA416674750 | PINK1 | c.654C>A (p.Ile218=) | |
| 1 | g.20638108C= | CA1157620801 | PINK1 | c.654C= (p.Ile218=) | |
| 1 | g.20638108C>G | CA338857874 | PINK1 | c.654C>G (p.Ile218Met) | |
| 1 | g.20638108C>T | CA660477 | PINK1 | c.654C>T (p.Ile218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638109A>C | CA338857891 | PINK1 | c.655A>C (p.Lys219Gln) | |
| 1 | g.20638109A>G | CA338857887 | PINK1 | c.655A>G (p.Lys219Glu) | gnomAD v4 |
| 1 | g.20638109A>T | CA338857884 | PINK1 | c.655A>T (p.Lys219Ter) | |
| 1 | g.20638110A>C | CA338857899 | PINK1 | c.656A>C (p.Lys219Thr) | |
| 1 | g.20638110A>G | CA338857895 | PINK1 | c.656A>G (p.Lys219Arg) | |
| 1 | g.20638110A>T | CA338857897 | PINK1 | c.656A>T (p.Lys219Met) | |
| 1 | g.20638111G>A | CA416674755 | PINK1 | c.657G>A (p.Lys219=) | dbSNP |
| 1 | g.20638111G>C | CA338857907 | PINK1 | c.657G>C (p.Lys219Asn) | |
| 1 | g.20638111G= | CA1157620806 | PINK1 | c.657G= (p.Lys219=) | |
| 1 | g.20638111G>T | CA338857909 | PINK1 | c.657G>T (p.Lys219Asn) | |
| 1 | g.20638112A= | CA1148561539 | PINK1 | c.658A= (p.Met220=) | |
| 1 | g.20638112A>C | CA338857913 | PINK1 | c.658A>C (p.Met220Leu) | |
| 1 | g.20638112A>G | CA660478 | PINK1 | c.658A>G (p.Met220Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.20638112A>T | CA338857917 | PINK1 | c.658A>T (p.Met220Leu) | |
| 1 | g.20638113T>A | CA338857918 | PINK1 | c.659T>A (p.Met220Lys) | |
| 1 | g.20638113T>C | CA338857919 | PINK1 | c.659T>C (p.Met220Thr) | |
| 1 | g.20638113T>G | CA338857920 | PINK1 | c.659T>G (p.Met220Arg) | |
| 1 | g.20638114G>A | CA660479 | PINK1 | c.660G>A (p.Met220Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.20638114G>C | CA338857921 | PINK1 | c.660G>C (p.Met220Ile) | |
| 1 | g.20638114G= | CA1157620811 | PINK1 | c.660G= (p.Met220=) | |
| 1 | g.20638114G>T | CA338857922 | PINK1 | c.660G>T (p.Met220Ile) | |
| 1 | g.20638115A= | CA1157620819 | PINK1 | c.661A= (p.Met221=) | |
| 1 | g.20638115A>C | CA338857924 | PINK1 | c.661A>C (p.Met221Leu) | |
| 1 | g.20638115A>G | CA18990077 | PINK1 | c.661A>G (p.Met221Val) | dbSNP |
| 1 | g.20638115A>T | CA338857923 | PINK1 | c.661A>T (p.Met221Leu) |