Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.89222490del | CA2610080699 | LIPA | c.894+23del (n.894+23del) c.726+23del (n.726+23del) c.546+23del (n.546+23del) | gnomAD v4 |
10 | g.89222489A= | CA1926733102 | LIPA | c.894+22T= (n.894+22T=) c.726+22T= (n.726+22T=) c.546+22T= (n.546+22T=) | |
10 | g.89222489A>C | CA2610080704 | LIPA | c.894+22T>G (n.894+22T>G) c.726+22T>G (n.726+22T>G) c.546+22T>G (n.546+22T>G) | gnomAD v4 |
10 | g.89222489A>G | CA5593577 | LIPA | c.894+22T>C (n.894+22T>C) c.726+22T>C (n.726+22T>C) c.546+22T>C (n.546+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222491T>C | CA2574605634 | LIPA | c.894+20A>G (n.894+20A>G) c.726+20A>G (n.726+20A>G) c.546+20A>G (n.546+20A>G) | gnomAD v4 |
10 | g.89222492G>A | CA2610080711 | LIPA | c.894+19C>T (n.894+19C>T) c.726+19C>T (n.726+19C>T) c.546+19C>T (n.546+19C>T) | gnomAD v4 |
10 | g.89222492G>T | CA2610080713 | LIPA | c.894+19C>A (n.894+19C>A) c.726+19C>A (n.726+19C>A) c.546+19C>A (n.546+19C>A) | gnomAD v4 |
10 | g.89222493C= | CA1926733103 | LIPA | c.894+18G= (n.894+18G=) c.726+18G= (n.726+18G=) c.546+18G= (n.546+18G=) | |
10 | g.89222493C>T | CA5593578 | LIPA | c.894+18G>A (n.894+18G>A) c.726+18G>A (n.726+18G>A) c.546+18G>A (n.546+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222494A>C | CA2610080718 | LIPA | c.894+17T>G (n.894+17T>G) c.726+17T>G (n.726+17T>G) c.546+17T>G (n.546+17T>G) | gnomAD v4 |
10 | g.89222494A>G | CA2740093475 | LIPA | c.894+17T>C (n.894+17T>C) c.726+17T>C (n.726+17T>C) c.546+17T>C (n.546+17T>C) | ClinVar |
10 | g.89222495C= | CA1926733104 | LIPA | c.894+16G= (n.894+16G=) c.726+16G= (n.726+16G=) c.546+16G= (n.546+16G=) | |
10 | g.89222495C>T | CA930986917 | LIPA | c.894+16G>A (n.894+16G>A) c.726+16G>A (n.726+16G>A) c.546+16G>A (n.546+16G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222497C>T | CA2610080719 | LIPA | c.894+14G>A (n.894+14G>A) c.726+14G>A (n.726+14G>A) c.546+14G>A (n.546+14G>A) | gnomAD v4 |
10 | g.89222498C>T | CA2610080721 | LIPA | c.894+13G>A (n.894+13G>A) c.726+13G>A (n.726+13G>A) c.546+13G>A (n.546+13G>A) | gnomAD v4 |
10 | g.89222499T>C | CA653727775 | LIPA | c.894+12A>G (n.894+12A>G) c.726+12A>G (n.726+12A>G) c.546+12A>G (n.546+12A>G) | gnomAD v4 COSMIC |
10 | g.89222500G>A | CA594955303 | LIPA | c.894+11C>T (n.894+11C>T) c.726+11C>T (n.726+11C>T) c.546+11C>T (n.546+11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.89222500G= | CA1926733105 | LIPA | c.894+11C= (n.894+11C=) c.726+11C= (n.726+11C=) c.546+11C= (n.546+11C=) | |
10 | g.89222500G>T | CA2574605635 | LIPA | c.894+11C>A (n.894+11C>A) c.726+11C>A (n.726+11C>A) c.546+11C>A (n.546+11C>A) | gnomAD v4 |
10 | g.89222501del | CA2610080724 | LIPA | c.894+11del (n.894+11del) c.726+11del (n.726+11del) c.546+11del (n.546+11del) | gnomAD v4 |
10 | g.89222501G>A | CA5593579 | LIPA | c.894+10C>T (n.894+10C>T) c.726+10C>T (n.726+10C>T) c.546+10C>T (n.546+10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222501G>C | CA2610080733 | LIPA | c.894+10C>G (n.894+10C>G) c.726+10C>G (n.726+10C>G) c.546+10C>G (n.546+10C>G) | gnomAD v4 |
10 | g.89222501G= | CA1926733106 | LIPA | c.894+10C= (n.894+10C=) c.726+10C= (n.726+10C=) c.546+10C= (n.546+10C=) | |
10 | g.89222501G>T | CA2574605636 | LIPA | c.894+10C>A (n.894+10C>A) c.726+10C>A (n.726+10C>A) c.546+10C>A (n.546+10C>A) | gnomAD v4 |
10 | g.89222502A>G | CA2610080735 | LIPA | c.894+9T>C (n.894+9T>C) c.726+9T>C (n.726+9T>C) c.546+9T>C (n.546+9T>C) | gnomAD v4 |
10 | g.89222503A= | CA1926733107 | LIPA | c.894+8T= (n.894+8T=) c.726+8T= (n.726+8T=) c.546+8T= (n.546+8T=) | |
10 | g.89222503A>C | CA2610080737 | LIPA | c.894+8T>G (n.894+8T>G) c.726+8T>G (n.726+8T>G) c.546+8T>G (n.546+8T>G) | gnomAD v4 |
10 | g.89222503A>G | CA2580082245 | LIPA | c.894+8T>C (n.894+8T>C) c.726+8T>C (n.726+8T>C) c.546+8T>C (n.546+8T>C) | ClinVar gnomAD v4 |
10 | g.89222503A>T | CA211366079 | LIPA | c.894+8T>A (n.894+8T>A) c.726+8T>A (n.726+8T>A) c.546+8T>A (n.546+8T>A) | dbSNP gnomAD v4 |
10 | g.89222504T>C | CA5593580 | LIPA | c.894+7A>G (n.894+7A>G) c.726+7A>G (n.726+7A>G) c.546+7A>G (n.546+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222504T>G | CA2574605637 | LIPA | c.894+7A>C (n.894+7A>C) c.726+7A>C (n.726+7A>C) c.546+7A>C (n.546+7A>C) | |
10 | g.89222504T= | CA1926733108 | LIPA | c.894+7A= (n.894+7A=) c.726+7A= (n.726+7A=) c.546+7A= (n.546+7A=) | |
10 | g.89222505G>A | CA5593581 | LIPA | c.894+6C>T (n.894+6C>T) c.726+6C>T (n.726+6C>T) c.546+6C>T (n.546+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222505G= | CA1926733109 | LIPA | c.894+6C= (n.894+6C=) c.726+6C= (n.726+6C=) c.546+6C= (n.546+6C=) | |
10 | g.89222505G>T | CA2610080750 | LIPA | c.894+6C>A (n.894+6C>A) c.726+6C>A (n.726+6C>A) c.546+6C>A (n.546+6C>A) | gnomAD v4 |
10 | g.89222506C>A | CA2610080751 | LIPA | c.894+5G>T (n.894+5G>T) c.726+5G>T (n.726+5G>T) c.546+5G>T (n.546+5G>T) | gnomAD v4 |
10 | g.89222506C>T | CA645543220 | LIPA | c.894+5G>A (n.894+5G>A) c.726+5G>A (n.726+5G>A) c.546+5G>A (n.546+5G>A) | gnomAD v4 COSMIC COSMIC |
10 | g.89222507C>A | CA2610080755 | LIPA | c.894+4G>T (n.894+4G>T) c.726+4G>T (n.726+4G>T) c.546+4G>T (n.546+4G>T) | gnomAD v4 |
10 | g.89222508T>C | CA2610080759 | LIPA | c.894+3A>G (n.894+3A>G) c.726+3A>G (n.726+3A>G) c.546+3A>G (n.546+3A>G) | gnomAD v4 |
10 | g.89222509A= | CA1926733110 | LIPA | c.894+2T= (n.894+2T=) c.726+2T= (n.726+2T=) c.546+2T= (n.546+2T=) | |
10 | g.89222509A>C | CA377516631 | LIPA | c.894+2T>G (n.894+2T>G) c.726+2T>G (n.726+2T>G) c.546+2T>G (n.546+2T>G) | |
10 | g.89222509A>G | CA377516630 | LIPA | c.894+2T>C (n.894+2T>C) c.726+2T>C (n.726+2T>C) c.546+2T>C (n.546+2T>C) | ClinVar dbSNP |
10 | g.89222509A>T | CA377516632 | LIPA | c.894+2T>A (n.894+2T>A) c.726+2T>A (n.726+2T>A) c.546+2T>A (n.546+2T>A) | |
10 | g.89222510C>A | CA377516633 | LIPA | c.894+1G>T (n.894+1G>T) c.726+1G>T (n.726+1G>T) c.546+1G>T (n.546+1G>T) | |
10 | g.89222510C= | CA1926733111 | LIPA | c.894+1G= (n.894+1G=) c.726+1G= (n.726+1G=) c.546+1G= (n.546+1G=) | |
10 | g.89222510C>G | CA377516635 | LIPA | c.894+1G>C (n.894+1G>C) c.726+1G>C (n.726+1G>C) c.546+1G>C (n.546+1G>C) | |
10 | g.89222510C>T | CA377516634 | LIPA | c.894+1G>A (n.894+1G>A) c.726+1G>A (n.726+1G>A) c.546+1G>A (n.546+1G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
10 | g.89222511C>A | CA377516636 | LIPA | c.894G>T (p.Gln298His) c.726G>T (p.Gln242His) c.546G>T (p.Gln182His) | |
10 | g.89222511C= | CA1926733112 | LIPA | c.894G= (p.Gln298=) c.726G= (p.Gln242=) c.546G= (p.Gln182=) | |
10 | g.89222511C>G | CA377516637 | LIPA | c.894G>C (p.Gln298His) c.726G>C (p.Gln242His) c.546G>C (p.Gln182His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.89222511C>T | CA346907 | LIPA | c.894G>A (p.Gln298=) c.726G>A (p.Gln242=) c.546G>A (p.Gln182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222512T>A | CA377516638 | LIPA | c.893A>T (p.Gln298Leu) c.725A>T (p.Gln242Leu) c.545A>T (p.Gln182Leu) | |
10 | g.89222512T>C | CA377516640 | LIPA | c.893A>G (p.Gln298Arg) c.725A>G (p.Gln242Arg) c.545A>G (p.Gln182Arg) | gnomAD v4 |
10 | g.89222512T>G | CA377516639 | LIPA | c.893A>C (p.Gln298Pro) c.725A>C (p.Gln242Pro) c.545A>C (p.Gln182Pro) | |
10 | g.89222513G>A | CA377516641 | LIPA | c.892C>T (p.Gln298Ter) c.724C>T (p.Gln242Ter) c.544C>T (p.Gln182Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.89222513G>C | CA377516642 | LIPA | c.892C>G (p.Gln298Glu) c.724C>G (p.Gln242Glu) c.544C>G (p.Gln182Glu) | |
10 | g.89222513G= | CA1926733113 | LIPA | c.892C= (p.Gln298=) c.724C= (p.Gln242=) c.544C= (p.Gln182=) | |
10 | g.89222513G>T | CA377516643 | LIPA | c.892C>A (p.Gln298Lys) c.724C>A (p.Gln242Lys) c.544C>A (p.Gln182Lys) | gnomAD v4 |
10 | g.89222514del | CA2574605638 | LIPA | c.892del (p.Gln298ArgfsTer?) c.724del (p.Gln242ArgfsTer?) c.544del (p.Gln182ArgfsTer?) | ClinVar |
10 | g.89222514G>A | CA5593582 | LIPA | c.891C>T (p.Ser297=) c.723C>T (p.Ser241=) c.543C>T (p.Ser181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222514G>C | CA377516644 | LIPA | c.891C>G (p.Ser297Arg) c.723C>G (p.Ser241Arg) c.543C>G (p.Ser181Arg) | |
10 | g.89222514G= | CA1926733114 | LIPA | c.891C= (p.Ser297=) c.723C= (p.Ser241=) c.543C= (p.Ser181=) | |
10 | g.89222514G>T | CA377516645 | LIPA | c.891C>A (p.Ser297Arg) c.723C>A (p.Ser241Arg) c.543C>A (p.Ser181Arg) | gnomAD v4 |
10 | g.89222515C>A | CA377516646 | LIPA | c.890G>T (p.Ser297Ile) c.722G>T (p.Ser241Ile) c.542G>T (p.Ser181Ile) | gnomAD v4 |
10 | g.89222515C>G | CA377516647 | LIPA | c.890G>C (p.Ser297Thr) c.722G>C (p.Ser241Thr) c.542G>C (p.Ser181Thr) | |
10 | g.89222515C>T | CA377516648 | LIPA | c.890G>A (p.Ser297Asn) c.722G>A (p.Ser241Asn) c.542G>A (p.Ser181Asn) | |
10 | g.89222515dup | CA2580082246 | LIPA | c.890dup (p.Ser297ArgfsTer5) c.722dup (p.Ser241ArgfsTer5) c.542dup (p.Ser181ArgfsTer5) | ClinVar gnomAD v4 |
10 | g.89222516T>A | CA5593583 | LIPA | c.889A>T (p.Ser297Cys) c.721A>T (p.Ser241Cys) c.541A>T (p.Ser181Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222516T>C | CA247503 | LIPA | c.889A>G (p.Ser297Gly) c.721A>G (p.Ser241Gly) c.541A>G (p.Ser181Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222516T>G | CA377516649 | LIPA | c.889A>C (p.Ser297Arg) c.721A>C (p.Ser241Arg) c.541A>C (p.Ser181Arg) | |
10 | g.89222516T= | CA1926733115 | LIPA | c.889A= (p.Ser297=) c.721A= (p.Ser241=) c.541A= (p.Ser181=) | |
10 | g.89222517C>A | CA377516650 | LIPA | c.888G>T (p.Trp296Cys) c.720G>T (p.Trp240Cys) c.540G>T (p.Trp180Cys) | |
10 | g.89222517C= | CA1926733116 | LIPA | c.888G= (p.Trp296=) c.720G= (p.Trp240=) c.540G= (p.Trp180=) | |
10 | g.89222517C>G | CA377516652 | LIPA | c.888G>C (p.Trp296Cys) c.720G>C (p.Trp240Cys) c.540G>C (p.Trp180Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222517C>T | CA377516651 | LIPA | c.888G>A (p.Trp296Ter) c.720G>A (p.Trp240Ter) c.540G>A (p.Trp180Ter) | |
10 | g.89222518C>A | CA377516653 | LIPA | c.887G>T (p.Trp296Leu) c.719G>T (p.Trp240Leu) c.539G>T (p.Trp180Leu) | |
10 | g.89222518C>G | CA377516654 | LIPA | c.887G>C (p.Trp296Ser) c.719G>C (p.Trp240Ser) c.539G>C (p.Trp180Ser) | |
10 | g.89222518C>T | CA377516655 | LIPA | c.887G>A (p.Trp296Ter) c.719G>A (p.Trp240Ter) c.539G>A (p.Trp180Ter) | gnomAD v4 |
10 | g.89222519A>C | CA377516656 | LIPA | c.886T>G (p.Trp296Gly) c.718T>G (p.Trp240Gly) c.538T>G (p.Trp180Gly) | |
10 | g.89222519A>G | CA377516657 | LIPA | c.886T>C (p.Trp296Arg) c.718T>C (p.Trp240Arg) c.538T>C (p.Trp180Arg) | |
10 | g.89222519A>T | CA377516658 | LIPA | c.886T>A (p.Trp296Arg) c.718T>A (p.Trp240Arg) c.538T>A (p.Trp180Arg) | |
10 | g.89222520G>A | CA10606471 | LIPA | c.885C>T (p.His295=) c.717C>T (p.His239=) c.537C>T (p.His179=) | ClinVar dbSNP gnomAD v4 |
10 | g.89222520G>C | CA377516659 | LIPA | c.885C>G (p.His295Gln) c.717C>G (p.His239Gln) c.537C>G (p.His179Gln) | |
10 | g.89222520G= | CA1926733117 | LIPA | c.885C= (p.His295=) c.717C= (p.His239=) c.537C= (p.His179=) | |
10 | g.89222520G>T | CA377516660 | LIPA | c.885C>A (p.His295Gln) c.717C>A (p.His239Gln) c.537C>A (p.His179Gln) | gnomAD v4 |
10 | g.89222521T>A | CA377516663 | LIPA | c.884A>T (p.His295Leu) c.716A>T (p.His239Leu) c.536A>T (p.His179Leu) | |
10 | g.89222521T>C | CA377516662 | LIPA | c.884A>G (p.His295Arg) c.716A>G (p.His239Arg) c.536A>G (p.His179Arg) | |
10 | g.89222521T>G | CA377516661 | LIPA | c.884A>C (p.His295Pro) c.716A>C (p.His239Pro) c.536A>C (p.His179Pro) | ClinVar gnomAD v4 |
10 | g.89222522G>A | CA377516664 | LIPA | c.883C>T (p.His295Tyr) c.715C>T (p.His239Tyr) c.535C>T (p.His179Tyr) | ClinVar dbSNP gnomAD v4 |
10 | g.89222522G>C | CA377516665 | LIPA | c.883C>G (p.His295Asp) c.715C>G (p.His239Asp) c.535C>G (p.His179Asp) | |
10 | g.89222522G= | CA1926733118 | LIPA | c.883C= (p.His295=) c.715C= (p.His239=) c.535C= (p.His179=) | |
10 | g.89222522G>T | CA377516666 | LIPA | c.883C>A (p.His295Asn) c.715C>A (p.His239Asn) c.535C>A (p.His179Asn) | gnomAD v4 |
10 | g.89222523T>A | CA377516667 | LIPA | c.882A>T (p.Leu294Phe) c.714A>T (p.Leu238Phe) c.534A>T (p.Leu178Phe) | |
10 | g.89222523T>C | CA470737545 | LIPA | c.882A>G (p.Leu294=) c.714A>G (p.Leu238=) c.534A>G (p.Leu178=) | gnomAD v4 |
10 | g.89222523T>G | CA377516668 | LIPA | c.882A>C (p.Leu294Phe) c.714A>C (p.Leu238Phe) c.534A>C (p.Leu178Phe) | |
10 | g.89222524A= | CA1926733119 | LIPA | c.881T= (p.Leu294=) c.713T= (p.Leu238=) c.533T= (p.Leu178=) | |
10 | g.89222524A>C | CA377516669 | LIPA | c.881T>G (p.Leu294Ter) c.713T>G (p.Leu238Ter) c.533T>G (p.Leu178Ter) | |
10 | g.89222524A>G | CA5593584 | LIPA | c.881T>C (p.Leu294Ser) c.713T>C (p.Leu238Ser) c.533T>C (p.Leu178Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222524A>T | CA377516670 | LIPA | c.881T>A (p.Leu294Ter) c.713T>A (p.Leu238Ter) c.533T>A (p.Leu178Ter) | |
10 | g.89222525del | CA2610080795 | LIPA | c.881del (p.Leu294TyrfsTer?) c.713del (p.Leu238TyrfsTer?) c.533del (p.Leu178TyrfsTer?) | gnomAD v4 |
10 | g.89222525A>C | CA377516671 | LIPA | c.880T>G (p.Leu294Val) c.712T>G (p.Leu238Val) c.532T>G (p.Leu178Val) | |
10 | g.89222525A>G | CA470737546 | LIPA | c.880T>C (p.Leu294=) c.712T>C (p.Leu238=) c.532T>C (p.Leu178=) | COSMIC COSMIC |
10 | g.89222525A>T | CA377516672 | LIPA | c.880T>A (p.Leu294Ile) c.712T>A (p.Leu238Ile) c.532T>A (p.Leu178Ile) | |
10 | g.89222526C>A | CA377516673 | LIPA | c.879G>T (p.Met293Ile) c.711G>T (p.Met237Ile) c.531G>T (p.Met177Ile) | |
10 | g.89222526C>G | CA377516674 | LIPA | c.879G>C (p.Met293Ile) c.711G>C (p.Met237Ile) c.531G>C (p.Met177Ile) | gnomAD v4 |
10 | g.89222526C>T | CA377516675 | LIPA | c.879G>A (p.Met293Ile) c.711G>A (p.Met237Ile) c.531G>A (p.Met177Ile) | gnomAD v4 |
10 | g.89222527A>C | CA377516676 | LIPA | c.878T>G (p.Met293Arg) c.710T>G (p.Met237Arg) c.530T>G (p.Met177Arg) | |
10 | g.89222527A>G | CA377516678 | LIPA | c.878T>C (p.Met293Thr) c.710T>C (p.Met237Thr) c.530T>C (p.Met177Thr) | gnomAD v4 |
10 | g.89222527A>T | CA377516677 | LIPA | c.878T>A (p.Met293Lys) c.710T>A (p.Met237Lys) c.530T>A (p.Met177Lys) | |
10 | g.89222528T>A | CA377516679 | LIPA | c.877A>T (p.Met293Leu) c.709A>T (p.Met237Leu) c.529A>T (p.Met177Leu) | |
10 | g.89222528T>C | CA5593585 | LIPA | c.877A>G (p.Met293Val) c.709A>G (p.Met237Val) c.529A>G (p.Met177Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222528T>G | CA377516680 | LIPA | c.877A>C (p.Met293Leu) c.709A>C (p.Met237Leu) c.529A>C (p.Met177Leu) | ClinVar dbSNP gnomAD v4 |
10 | g.89222528T= | CA1926733120 | LIPA | c.877A= (p.Met293=) c.709A= (p.Met237=) c.529A= (p.Met177=) | |
10 | g.89222529G>A | CA470737547 | LIPA | c.876C>T (p.Asn292=) c.708C>T (p.Asn236=) c.528C>T (p.Asn176=) | gnomAD v4 |
10 | g.89222529G>C | CA377516681 | LIPA | c.876C>G (p.Asn292Lys) c.708C>G (p.Asn236Lys) c.528C>G (p.Asn176Lys) | |
10 | g.89222529G>T | CA377516682 | LIPA | c.876C>A (p.Asn292Lys) c.708C>A (p.Asn236Lys) c.528C>A (p.Asn176Lys) | gnomAD v4 |
10 | g.89222530T>A | CA377516683 | LIPA | c.875A>T (p.Asn292Ile) c.707A>T (p.Asn236Ile) c.527A>T (p.Asn176Ile) | |
10 | g.89222530T>C | CA377516684 | LIPA | c.875A>G (p.Asn292Ser) c.707A>G (p.Asn236Ser) c.527A>G (p.Asn176Ser) | |
10 | g.89222530T>G | CA377516685 | LIPA | c.875A>C (p.Asn292Thr) c.707A>C (p.Asn236Thr) c.527A>C (p.Asn176Thr) | gnomAD v4 |
10 | g.89222531T>A | CA377516686 | LIPA | c.874A>T (p.Asn292Tyr) c.706A>T (p.Asn236Tyr) c.526A>T (p.Asn176Tyr) | |
10 | g.89222531T>C | CA377516687 | LIPA | c.874A>G (p.Asn292Asp) c.706A>G (p.Asn236Asp) c.526A>G (p.Asn176Asp) | |
10 | g.89222531T>G | CA377516688 | LIPA | c.874A>C (p.Asn292His) c.706A>C (p.Asn236His) c.526A>C (p.Asn176His) | |
10 | g.89222532T>A | CA377516690 | LIPA | c.873A>T (p.Gln291His) c.705A>T (p.Gln235His) c.525A>T (p.Gln175His) | |
10 | g.89222532T>C | CA470737548 | LIPA | c.873A>G (p.Gln291=) c.705A>G (p.Gln235=) c.525A>G (p.Gln175=) | dbSNP gnomAD v4 |
10 | g.89222532T>G | CA377516689 | LIPA | c.873A>C (p.Gln291His) c.705A>C (p.Gln235His) c.525A>C (p.Gln175His) | |
10 | g.89222532T= | CA1926733121 | LIPA | c.873A= (p.Gln291=) c.705A= (p.Gln235=) c.525A= (p.Gln175=) | |
10 | g.89222533T>A | CA377516691 | LIPA | c.872A>T (p.Gln291Leu) c.704A>T (p.Gln235Leu) c.872A>T c.524A>T (p.Gln175Leu) | |
10 | g.89222533T>C | CA377516693 | LIPA | c.872A>G (p.Gln291Arg) c.704A>G (p.Gln235Arg) c.872A>G c.524A>G (p.Gln175Arg) | dbSNP gnomAD v2 |
10 | g.89222533T>G | CA377516692 | LIPA | c.872A>C (p.Gln291Pro) c.704A>C (p.Gln235Pro) c.872A>C c.524A>C (p.Gln175Pro) | |
10 | g.89222533T= | CA1926733122 | LIPA | c.872A= (p.Gln291=) c.704A= (p.Gln235=) c.872A= c.524A= (p.Gln175=) | |
10 | g.89222534G>A | CA377516694 | LIPA | c.871C>T (p.Gln291Ter) c.703C>T (p.Gln235Ter) c.871C>T c.523C>T (p.Gln175Ter) | ClinVar |
10 | g.89222534G>C | CA5593586 | LIPA | c.871C>G (p.Gln291Glu) c.703C>G (p.Gln235Glu) c.871C>G c.523C>G (p.Gln175Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222534G= | CA1926733123 | LIPA | c.871C= (p.Gln291=) c.703C= (p.Gln235=) c.871C= c.523C= (p.Gln175=) | |
10 | g.89222534G>T | CA377516695 | LIPA | c.871C>A (p.Gln291Lys) c.703C>A (p.Gln235Lys) c.871C>A c.523C>A (p.Gln175Lys) | |
10 | g.89222535C>A | CA470737550 | LIPA | c.870G>T (p.Val290=) c.702G>T (p.Val234=) c.522G>T (p.Val174=) | |
10 | g.89222535C= | CA1926733124 | LIPA | c.870G= (p.Val290=) c.702G= (p.Val234=) c.522G= (p.Val174=) | |
10 | g.89222535C>G | CA470737549 | LIPA | c.870G>C (p.Val290=) c.702G>C (p.Val234=) c.522G>C (p.Val174=) | |
10 | g.89222535C>T | CA5593587 | LIPA | c.870G>A (p.Val290=) c.702G>A (p.Val234=) c.522G>A (p.Val174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222536A>C | CA377516696 | LIPA | c.869T>G (p.Val290Gly) c.701T>G (p.Val234Gly) c.521T>G (p.Val174Gly) | |
10 | g.89222536A>G | CA377516697 | LIPA | c.869T>C (p.Val290Ala) c.701T>C (p.Val234Ala) c.521T>C (p.Val174Ala) | |
10 | g.89222536A>T | CA377516698 | LIPA | c.869T>A (p.Val290Glu) c.701T>A (p.Val234Glu) c.521T>A (p.Val174Glu) | |
10 | g.89222537C>A | CA377516699 | LIPA | c.868G>T (p.Val290Leu) c.700G>T (p.Val234Leu) c.520G>T (p.Val174Leu) | |
10 | g.89222537C>G | CA377516700 | LIPA | c.868G>C (p.Val290Leu) c.700G>C (p.Val234Leu) c.520G>C (p.Val174Leu) | |
10 | g.89222537C>T | CA377516701 | LIPA | c.868G>A (p.Val290Met) c.700G>A (p.Val234Met) c.520G>A (p.Val174Met) | |
10 | g.89222538A>C | CA470737551 | LIPA | c.867T>G (p.Ser289=) c.699T>G (p.Ser233=) c.519T>G (p.Ser173=) | |
10 | g.89222538A>G | CA470737552 | LIPA | c.867T>C (p.Ser289=) c.699T>C (p.Ser233=) c.519T>C (p.Ser173=) | |
10 | g.89222538A>T | CA470737553 | LIPA | c.867T>A (p.Ser289=) c.699T>A (p.Ser233=) c.519T>A (p.Ser173=) | |
10 | g.89222539G>A | CA377516704 | LIPA | c.866C>T (p.Ser289Phe) c.698C>T (p.Ser233Phe) c.518C>T (p.Ser173Phe) | |
10 | g.89222539G>C | CA377516703 | LIPA | c.866C>G (p.Ser289Cys) c.698C>G (p.Ser233Cys) c.518C>G (p.Ser173Cys) | ClinVar dbSNP |
10 | g.89222539G= | CA1926733125 | LIPA | c.866C= (p.Ser289=) c.698C= (p.Ser233=) c.518C= (p.Ser173=) | |
10 | g.89222539G>T | CA377516702 | LIPA | c.866C>A (p.Ser289Tyr) c.698C>A (p.Ser233Tyr) c.518C>A (p.Ser173Tyr) | |
10 | g.89222540A>C | CA377516705 | LIPA | c.865T>G (p.Ser289Ala) c.697T>G (p.Ser233Ala) c.517T>G (p.Ser173Ala) | |
10 | g.89222540A>G | CA377516706 | LIPA | c.865T>C (p.Ser289Pro) c.697T>C (p.Ser233Pro) c.517T>C (p.Ser173Pro) | |
10 | g.89222540A>T | CA377516707 | LIPA | c.865T>A (p.Ser289Thr) c.697T>A (p.Ser233Thr) c.517T>A (p.Ser173Thr) | |
10 | g.89222541A>C | CA470737554 | LIPA | c.864T>G (p.Thr288=) c.696T>G (p.Thr232=) c.516T>G (p.Thr172=) | |
10 | g.89222541A>G | CA470737555 | LIPA | c.864T>C (p.Thr288=) c.696T>C (p.Thr232=) c.516T>C (p.Thr172=) | |
10 | g.89222541A>T | CA470737556 | LIPA | c.864T>A (p.Thr288=) c.696T>A (p.Thr232=) c.516T>A (p.Thr172=) | |
10 | g.89222542G>A | CA377516708 | LIPA | c.863C>T (p.Thr288Ile) c.695C>T (p.Thr232Ile) c.515C>T (p.Thr172Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222542G>C | CA377516709 | LIPA | c.863C>G (p.Thr288Ser) c.695C>G (p.Thr232Ser) c.515C>G (p.Thr172Ser) | |
10 | g.89222542G= | CA1926733126 | LIPA | c.863C= (p.Thr288=) c.695C= (p.Thr232=) c.515C= (p.Thr172=) | |
10 | g.89222542G>T | CA377516710 | LIPA | c.863C>A (p.Thr288Asn) c.695C>A (p.Thr232Asn) c.515C>A (p.Thr172Asn) | |
10 | g.89222543T>A | CA377516711 | LIPA | c.862A>T (p.Thr288Ser) c.694A>T (p.Thr232Ser) c.514A>T (p.Thr172Ser) | |
10 | g.89222543T>C | CA377516712 | LIPA | c.862A>G (p.Thr288Ala) c.694A>G (p.Thr232Ala) c.514A>G (p.Thr172Ala) | |
10 | g.89222543T>G | CA377516713 | LIPA | c.862A>C (p.Thr288Pro) c.694A>C (p.Thr232Pro) c.514A>C (p.Thr172Pro) | |
10 | g.89222544T>A | CA470737557 | LIPA | c.861A>T (p.Gly287=) c.693A>T (p.Gly231=) c.513A>T (p.Gly171=) | |
10 | g.89222544T>C | CA470737558 | LIPA | c.861A>G (p.Gly287=) c.693A>G (p.Gly231=) c.513A>G (p.Gly171=) | |
10 | g.89222544T>G | CA470737559 | LIPA | c.861A>C (p.Gly287=) c.693A>C (p.Gly231=) c.513A>C (p.Gly171=) | |
10 | g.89222545C>A | CA377516714 | LIPA | c.860G>T (p.Gly287Val) c.692G>T (p.Gly231Val) c.512G>T (p.Gly171Val) | |
10 | g.89222545C= | CA1926733127 | LIPA | c.860G= (p.Gly287=) c.692G= (p.Gly231=) c.512G= (p.Gly171=) | |
10 | g.89222545C>G | CA377516715 | LIPA | c.860G>C (p.Gly287Ala) c.692G>C (p.Gly231Ala) c.512G>C (p.Gly171Ala) | dbSNP gnomAD v4 |
10 | g.89222545C>T | CA377516716 | LIPA | c.860G>A (p.Gly287Glu) c.692G>A (p.Gly231Glu) c.512G>A (p.Gly171Glu) | |
10 | g.89222546C>A | CA377516718 | LIPA | c.859G>T (p.Gly287Ter) c.691G>T (p.Gly231Ter) c.511G>T (p.Gly171Ter) | |
10 | g.89222546C>G | CA377516719 | LIPA | c.859G>C (p.Gly287Arg) c.691G>C (p.Gly231Arg) c.511G>C (p.Gly171Arg) | |
10 | g.89222546C>T | CA377516717 | LIPA | c.859G>A (p.Gly287Arg) c.691G>A (p.Gly231Arg) c.511G>A (p.Gly171Arg) | gnomAD v4 |
10 | g.89222547A>C | CA470737560 | LIPA | c.858T>G (p.Ala286=) c.690T>G (p.Ala230=) c.510T>G (p.Ala170=) | gnomAD v4 |
10 | g.89222547A>G | CA470737561 | LIPA | c.858T>C (p.Ala286=) c.690T>C (p.Ala230=) c.510T>C (p.Ala170=) | |
10 | g.89222547A>T | CA470737562 | LIPA | c.858T>A (p.Ala286=) c.690T>A (p.Ala230=) c.510T>A (p.Ala170=) | |
10 | g.89222548G>A | CA377516720 | LIPA | c.857C>T (p.Ala286Val) c.689C>T (p.Ala230Val) c.509C>T (p.Ala170Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.89222548G>C | CA377516721 | LIPA | c.857C>G (p.Ala286Gly) c.689C>G (p.Ala230Gly) c.509C>G (p.Ala170Gly) | |
10 | g.89222548G= | CA1926733128 | LIPA | c.857C= (p.Ala286=) c.689C= (p.Ala230=) c.509C= (p.Ala170=) | |
10 | g.89222548G>T | CA377516722 | LIPA | c.857C>A (p.Ala286Asp) c.689C>A (p.Ala230Asp) c.509C>A (p.Ala170Asp) | gnomAD v4 |
10 | g.89222549C>A | CA211366126 | LIPA | c.856G>T (p.Ala286Ser) c.688G>T (p.Ala230Ser) c.508G>T (p.Ala170Ser) | dbSNP |
10 | g.89222549C= | CA1926733129 | LIPA | c.856G= (p.Ala286=) c.688G= (p.Ala230=) c.508G= (p.Ala170=) | |
10 | g.89222549C>G | CA377516723 | LIPA | c.856G>C (p.Ala286Pro) c.688G>C (p.Ala230Pro) c.508G>C (p.Ala170Pro) | |
10 | g.89222549C>T | CA377516724 | LIPA | c.856G>A (p.Ala286Thr) c.688G>A (p.Ala230Thr) c.508G>A (p.Ala170Thr) | gnomAD v4 |
10 | g.89222550A>C | CA470737563 | LIPA | c.855T>G (p.Pro285=) c.687T>G (p.Pro229=) c.507T>G (p.Pro169=) | |
10 | g.89222550A>G | CA470737564 | LIPA | c.855T>C (p.Pro285=) c.687T>C (p.Pro229=) c.507T>C (p.Pro169=) | COSMIC COSMIC |
10 | g.89222550A>T | CA470737565 | LIPA | c.855T>A (p.Pro285=) c.687T>A (p.Pro229=) c.507T>A (p.Pro169=) | ClinVar |
10 | g.89222552_89222554del | CA2610080799 | LIPA | c.853_855del (p.Pro285del) c.685_687del (p.Pro229del) c.505_507del (p.Pro169del) | gnomAD v4 |
10 | g.89222551G>A | CA377516725 | LIPA | c.854C>T (p.Pro285Leu) c.686C>T (p.Pro229Leu) c.506C>T (p.Pro169Leu) | |
10 | g.89222551G>C | CA377516726 | LIPA | c.854C>G (p.Pro285Arg) c.686C>G (p.Pro229Arg) c.506C>G (p.Pro169Arg) | |
10 | g.89222551G>T | CA377516727 | LIPA | c.854C>A (p.Pro285His) c.686C>A (p.Pro229His) c.506C>A (p.Pro169His) | gnomAD v4 |
10 | g.89222552del | CA2573145914 | LIPA | c.854del (p.Pro285LeufsTer?) c.686del (p.Pro229LeufsTer?) c.506del (p.Pro169LeufsTer?) | ClinVar dbSNP |
10 | g.89222552G>A | CA377516728 | LIPA | c.853C>T (p.Pro285Ser) c.685C>T (p.Pro229Ser) c.505C>T (p.Pro169Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.89222552G>C | CA377516729 | LIPA | c.853C>G (p.Pro285Ala) c.685C>G (p.Pro229Ala) c.505C>G (p.Pro169Ala) | |
10 | g.89222552G= | CA1926733130 | LIPA | c.853C= (p.Pro285=) c.685C= (p.Pro229=) c.505C= (p.Pro169=) | |
10 | g.89222552G>T | CA377516730 | LIPA | c.853C>A (p.Pro285Thr) c.685C>A (p.Pro229Thr) c.505C>A (p.Pro169Thr) | |
10 | g.89222553A= | CA1926733131 | LIPA | c.852T= (p.Ser284=) c.684T= (p.Ser228=) c.504T= (p.Ser168=) | |
10 | g.89222553A>C | CA5593588 | LIPA | c.852T>G (p.Ser284=) c.684T>G (p.Ser228=) c.504T>G (p.Ser168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222553A>G | CA470737566 | LIPA | c.852T>C (p.Ser284=) c.684T>C (p.Ser228=) c.504T>C (p.Ser168=) | ClinVar |
10 | g.89222553A>T | CA470737567 | LIPA | c.852T>A (p.Ser284=) c.684T>A (p.Ser228=) c.504T>A (p.Ser168=) | |
10 | g.89222554G>A | CA377516733 | LIPA | c.851C>T (p.Ser284Phe) c.683C>T (p.Ser228Phe) c.503C>T (p.Ser168Phe) | ClinVar dbSNP gnomAD v4 |
10 | g.89222554G>C | CA377516732 | LIPA | c.851C>G (p.Ser284Cys) c.683C>G (p.Ser228Cys) c.503C>G (p.Ser168Cys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.89222554G= | CA1926733132 | LIPA | c.851C= (p.Ser284=) c.683C= (p.Ser228=) c.503C= (p.Ser168=) | |
10 | g.89222554G>T | CA377516731 | LIPA | c.851C>A (p.Ser284Tyr) c.683C>A (p.Ser228Tyr) c.503C>A (p.Ser168Tyr) | gnomAD v4 |
10 | g.89222555A>C | CA377516734 | LIPA | c.850T>G (p.Ser284Ala) c.682T>G (p.Ser228Ala) c.502T>G (p.Ser168Ala) | |
10 | g.89222555A>G | CA377516735 | LIPA | c.850T>C (p.Ser284Pro) c.682T>C (p.Ser228Pro) c.502T>C (p.Ser168Pro) | ClinVar dbSNP |
10 | g.89222555A>T | CA377516736 | LIPA | c.850T>A (p.Ser284Thr) c.682T>A (p.Ser228Thr) c.502T>A (p.Ser168Thr) | |
10 | g.89222556A>C | CA377516737 | LIPA | c.849T>G (p.His283Gln) c.681T>G (p.His227Gln) c.501T>G (p.His167Gln) | gnomAD v4 |
10 | g.89222556A>G | CA470737568 | LIPA | c.849T>C (p.His283=) c.681T>C (p.His227=) c.501T>C (p.His167=) | |
10 | g.89222556A>T | CA377516738 | LIPA | c.849T>A (p.His283Gln) c.681T>A (p.His227Gln) c.501T>A (p.His167Gln) | |
10 | g.89222557T>A | CA377516739 | LIPA | c.848A>T (p.His283Leu) c.680A>T (p.His227Leu) c.500A>T (p.His167Leu) | |
10 | g.89222557T>C | CA377516740 | LIPA | c.848A>G (p.His283Arg) c.680A>G (p.His227Arg) c.500A>G (p.His167Arg) | |
10 | g.89222557T>G | CA377516741 | LIPA | c.848A>C (p.His283Pro) c.680A>C (p.His227Pro) c.500A>C (p.His167Pro) | gnomAD v4 |
10 | g.89222558G>A | CA377516742 | LIPA | c.847C>T (p.His283Tyr) c.679C>T (p.His227Tyr) c.499C>T (p.His167Tyr) | dbSNP gnomAD v4 |
10 | g.89222558G>C | CA377516743 | LIPA | c.847C>G (p.His283Asp) c.679C>G (p.His227Asp) c.499C>G (p.His167Asp) | gnomAD v4 |
10 | g.89222558G= | CA1926733133 | LIPA | c.847C= (p.His283=) c.679C= (p.His227=) c.499C= (p.His167=) | |
10 | g.89222558G>T | CA377516744 | LIPA | c.847C>A (p.His283Asn) c.679C>A (p.His227Asn) c.499C>A (p.His167Asn) | gnomAD v4 |
10 | g.89222559T>A | CA470737569 | LIPA | c.846A>T (p.Thr282=) c.678A>T (p.Thr226=) c.498A>T (p.Thr166=) | |
10 | g.89222559T>C | CA5593589 | LIPA | c.846A>G (p.Thr282=) c.678A>G (p.Thr226=) c.498A>G (p.Thr166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222559T>G | CA5593590 | LIPA | c.846A>C (p.Thr282=) c.678A>C (p.Thr226=) c.498A>C (p.Thr166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222559T= | CA1926733134 | LIPA | c.846A= (p.Thr282=) c.678A= (p.Thr226=) c.498A= (p.Thr166=) | |
10 | g.89222560G>A | CA377516747 | LIPA | c.845C>T (p.Thr282Ile) c.677C>T (p.Thr226Ile) c.497C>T (p.Thr166Ile) | gnomAD v4 |
10 | g.89222560G>C | CA377516746 | LIPA | c.845C>G (p.Thr282Arg) c.677C>G (p.Thr226Arg) c.497C>G (p.Thr166Arg) | |
10 | g.89222560G>T | CA377516745 | LIPA | c.845C>A (p.Thr282Lys) c.677C>A (p.Thr226Lys) c.497C>A (p.Thr166Lys) | gnomAD v4 |
10 | g.89222561T>A | CA377516748 | LIPA | c.844A>T (p.Thr282Ser) c.676A>T (p.Thr226Ser) c.496A>T (p.Thr166Ser) | |
10 | g.89222561T>C | CA377516750 | LIPA | c.844A>G (p.Thr282Ala) c.676A>G (p.Thr226Ala) c.496A>G (p.Thr166Ala) | |
10 | g.89222561T>G | CA377516749 | LIPA | c.844A>C (p.Thr282Pro) c.676A>C (p.Thr226Pro) c.496A>C (p.Thr166Pro) | |
10 | g.89222562T>A | CA470737570 | LIPA | c.843A>T (p.Thr281=) c.675A>T (p.Thr225=) c.495A>T (p.Thr165=) | ClinVar gnomAD v4 |
10 | g.89222562T>C | CA470737571 | LIPA | c.843A>G (p.Thr281=) c.675A>G (p.Thr225=) c.495A>G (p.Thr165=) | |
10 | g.89222562T>G | CA470737572 | LIPA | c.843A>C (p.Thr281=) c.675A>C (p.Thr225=) c.495A>C (p.Thr165=) | |
10 | g.89222563G>A | CA377516751 | LIPA | c.842C>T (p.Thr281Ile) c.674C>T (p.Thr225Ile) c.494C>T (p.Thr165Ile) | |
10 | g.89222563G>C | CA377516752 | LIPA | c.842C>G (p.Thr281Arg) c.674C>G (p.Thr225Arg) c.494C>G (p.Thr165Arg) | |
10 | g.89222563G>T | CA377516753 | LIPA | c.842C>A (p.Thr281Lys) c.674C>A (p.Thr225Lys) c.494C>A (p.Thr165Lys) | gnomAD v4 |
10 | g.89222564T>A | CA377516754 | LIPA | c.841A>T (p.Thr281Ser) c.673A>T (p.Thr225Ser) c.493A>T (p.Thr165Ser) | |
10 | g.89222564T>C | CA377516755 | LIPA | c.841A>G (p.Thr281Ala) c.673A>G (p.Thr225Ala) c.493A>G (p.Thr165Ala) | gnomAD v4 |
10 | g.89222564T>G | CA377516756 | LIPA | c.841A>C (p.Thr281Pro) c.673A>C (p.Thr225Pro) c.493A>C (p.Thr165Pro) | |
10 | g.89222565A= | CA1926733135 | LIPA | c.840T= (p.Tyr280=) c.672T= (p.Tyr224=) c.492T= (p.Tyr164=) | |
10 | g.89222565A>C | CA211366150 | LIPA | c.840T>G (p.Tyr280Ter) c.672T>G (p.Tyr224Ter) c.492T>G (p.Tyr164Ter) | dbSNP |
10 | g.89222565A>G | CA470737573 | LIPA | c.840T>C (p.Tyr280=) c.672T>C (p.Tyr224=) c.492T>C (p.Tyr164=) | ClinVar |
10 | g.89222565A>T | CA377516757 | LIPA | c.840T>A (p.Tyr280Ter) c.672T>A (p.Tyr224Ter) c.492T>A (p.Tyr164Ter) | |
10 | g.89222566T>A | CA377516758 | LIPA | c.839A>T (p.Tyr280Phe) c.671A>T (p.Tyr224Phe) c.491A>T (p.Tyr164Phe) | gnomAD v4 |
10 | g.89222566T>C | CA377516759 | LIPA | c.839A>G (p.Tyr280Cys) c.671A>G (p.Tyr224Cys) c.491A>G (p.Tyr164Cys) | gnomAD v4 |
10 | g.89222566T>G | CA377516760 | LIPA | c.839A>C (p.Tyr280Ser) c.671A>C (p.Tyr224Ser) c.491A>C (p.Tyr164Ser) | |
10 | g.89222567A>C | CA377516761 | LIPA | c.838T>G (p.Tyr280Asp) c.670T>G (p.Tyr224Asp) c.490T>G (p.Tyr164Asp) | |
10 | g.89222567A>G | CA377516762 | LIPA | c.838T>C (p.Tyr280His) c.670T>C (p.Tyr224His) c.490T>C (p.Tyr164His) | |
10 | g.89222567A>T | CA377516763 | LIPA | c.838T>A (p.Tyr280Asn) c.670T>A (p.Tyr224Asn) c.490T>A (p.Tyr164Asn) | |
10 | g.89222568T>A | CA470737574 | LIPA | c.837A>T (p.Val279=) c.669A>T (p.Val223=) c.489A>T (p.Val163=) | |
10 | g.89222568T>C | CA470737576 | LIPA | c.837A>G (p.Val279=) c.669A>G (p.Val223=) c.489A>G (p.Val163=) | ClinVar dbSNP gnomAD v4 |
10 | g.89222568T>G | CA470737575 | LIPA | c.837A>C (p.Val279=) c.669A>C (p.Val223=) c.489A>C (p.Val163=) | |
10 | g.89222569A>C | CA377516766 | LIPA | c.836T>G (p.Val279Gly) c.668T>G (p.Val223Gly) c.488T>G (p.Val163Gly) | |
10 | g.89222569A>G | CA377516764 | LIPA | c.836T>C (p.Val279Ala) c.668T>C (p.Val223Ala) c.488T>C (p.Val163Ala) | |
10 | g.89222569A>T | CA377516765 | LIPA | c.836T>A (p.Val279Glu) c.668T>A (p.Val223Glu) c.488T>A (p.Val163Glu) | |
10 | g.89222570C>A | CA377516767 | LIPA | c.835G>T (p.Val279Leu) c.667G>T (p.Val223Leu) c.487G>T (p.Val163Leu) | |
10 | g.89222570C= | CA1926733136 | LIPA | c.835G= (p.Val279=) c.667G= (p.Val223=) c.487G= (p.Val163=) | |
10 | g.89222570C>G | CA377516768 | LIPA | c.835G>C (p.Val279Leu) c.667G>C (p.Val223Leu) c.487G>C (p.Val163Leu) | |
10 | g.89222570C>T | CA5593591 | LIPA | c.835G>A (p.Val279Ile) c.667G>A (p.Val223Ile) c.487G>A (p.Val163Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.89222571A>C | CA377516769 | LIPA | c.834T>G (p.Asp278Glu) c.666T>G (p.Asp222Glu) c.486T>G (p.Asp162Glu) | gnomAD v4 |
10 | g.89222571A>G | CA470737577 | LIPA | c.834T>C (p.Asp278=) c.666T>C (p.Asp222=) c.486T>C (p.Asp162=) | |
10 | g.89222571A>T | CA377516770 | LIPA | c.834T>A (p.Asp278Glu) c.666T>A (p.Asp222Glu) c.486T>A (p.Asp162Glu) | |
10 | g.89222572T>A | CA377516771 | LIPA | c.833A>T (p.Asp278Val) c.665A>T (p.Asp222Val) c.485A>T (p.Asp162Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222572T>C | CA377516772 | LIPA | c.833A>G (p.Asp278Gly) c.665A>G (p.Asp222Gly) c.485A>G (p.Asp162Gly) | gnomAD v4 |
10 | g.89222572T>G | CA377516773 | LIPA | c.833A>C (p.Asp278Ala) c.665A>C (p.Asp222Ala) c.485A>C (p.Asp162Ala) | |
10 | g.89222572T= | CA1926733137 | LIPA | c.833A= (p.Asp278=) c.665A= (p.Asp222=) c.485A= (p.Asp162=) | |
10 | g.89222573C>A | CA377516774 | LIPA | c.832G>T (p.Asp278Tyr) c.664G>T (p.Asp222Tyr) c.484G>T (p.Asp162Tyr) | |
10 | g.89222573C>G | CA377516775 | LIPA | c.832G>C (p.Asp278His) c.664G>C (p.Asp222His) c.484G>C (p.Asp162His) | |
10 | g.89222573C>T | CA377516776 | LIPA | c.832G>A (p.Asp278Asn) c.664G>A (p.Asp222Asn) c.484G>A (p.Asp162Asn) | ClinVar |
10 | g.89222574del | CA2610080802 | LIPA | c.832del (p.Asp278MetfsTer?) c.664del (p.Asp222MetfsTer?) c.484del (p.Asp162MetfsTer?) | gnomAD v4 |
10 | g.89222574C>A | CA5593592 | LIPA | c.831G>T (p.Val277=) c.663G>T (p.Val221=) c.483G>T (p.Val161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222574C= | CA1926733138 | LIPA | c.831G= (p.Val277=) c.663G= (p.Val221=) c.483G= (p.Val161=) | |
10 | g.89222574C>G | CA470737578 | LIPA | c.831G>C (p.Val277=) c.663G>C (p.Val221=) c.483G>C (p.Val161=) | |
10 | g.89222574C>T | CA470737579 | LIPA | c.831G>A (p.Val277=) c.663G>A (p.Val221=) c.483G>A (p.Val161=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222575A>C | CA377516777 | LIPA | c.830T>G (p.Val277Gly) c.662T>G (p.Val221Gly) c.482T>G (p.Val161Gly) | |
10 | g.89222575A>G | CA377516779 | LIPA | c.830T>C (p.Val277Ala) c.662T>C (p.Val221Ala) c.482T>C (p.Val161Ala) | |
10 | g.89222575A>T | CA377516778 | LIPA | c.830T>A (p.Val277Glu) c.662T>A (p.Val221Glu) c.482T>A (p.Val161Glu) | |
10 | g.89222576C>A | CA377516780 | LIPA | c.829G>T (p.Val277Leu) c.661G>T (p.Val221Leu) c.481G>T (p.Val161Leu) | |
10 | g.89222576C>G | CA377516781 | LIPA | c.829G>C (p.Val277Leu) c.661G>C (p.Val221Leu) c.481G>C (p.Val161Leu) | |
10 | g.89222576C>T | CA377516782 | LIPA | c.829G>A (p.Val277Met) c.661G>A (p.Val221Met) c.481G>A (p.Val161Met) | gnomAD v4 |
10 | g.89222577T>A | CA377516783 | LIPA | c.828A>T (p.Arg276Ser) c.660A>T (p.Arg220Ser) c.480A>T (p.Arg160Ser) | |
10 | g.89222577T>C | CA5593593 | LIPA | c.828A>G (p.Arg276=) c.660A>G (p.Arg220=) c.480A>G (p.Arg160=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222577T>G | CA377516784 | LIPA | c.828A>C (p.Arg276Ser) c.660A>C (p.Arg220Ser) c.480A>C (p.Arg160Ser) | |
10 | g.89222577T= | CA1926733139 | LIPA | c.828A= (p.Arg276=) c.660A= (p.Arg220=) c.480A= (p.Arg160=) | |
10 | g.89222578C>A | CA377516785 | LIPA | c.827G>T (p.Arg276Ile) c.659G>T (p.Arg220Ile) c.479G>T (p.Arg160Ile) | |
10 | g.89222578C>G | CA377516786 | LIPA | c.827G>C (p.Arg276Thr) c.659G>C (p.Arg220Thr) c.479G>C (p.Arg160Thr) | |
10 | g.89222578C>T | CA377516787 | LIPA | c.827G>A (p.Arg276Lys) c.659G>A (p.Arg220Lys) c.479G>A (p.Arg160Lys) | gnomAD v4 |
10 | g.89222579T>A | CA377516788 | LIPA | c.826A>T (p.Arg276Ter) c.658A>T (p.Arg220Ter) c.478A>T (p.Arg160Ter) | ClinVar dbSNP |
10 | g.89222579T>C | CA377516789 | LIPA | c.826A>G (p.Arg276Gly) c.658A>G (p.Arg220Gly) c.478A>G (p.Arg160Gly) | gnomAD v4 |
10 | g.89222579T>G | CA470737580 | LIPA | c.826A>C (p.Arg276=) c.658A>C (p.Arg220=) c.478A>C (p.Arg160=) | |
10 | g.89222579T= | CA1926733140 | LIPA | c.826A= (p.Arg276=) c.658A= (p.Arg220=) c.478A= (p.Arg160=) | |
10 | g.89222580A= | CA1926733141 | LIPA | c.825T= (p.Ser275=) c.657T= (p.Ser219=) c.477T= (p.Ser159=) | |
10 | g.89222580A>C | CA470737581 | LIPA | c.825T>G (p.Ser275=) c.657T>G (p.Ser219=) c.477T>G (p.Ser159=) | |
10 | g.89222580A>G | CA211366178 | LIPA | c.825T>C (p.Ser275=) c.657T>C (p.Ser219=) c.477T>C (p.Ser159=) | dbSNP gnomAD v4 |
10 | g.89222580A>T | CA470737582 | LIPA | c.825T>A (p.Ser275=) c.657T>A (p.Ser219=) c.477T>A (p.Ser159=) | |
10 | g.89222581_89222582del | CA2574605639 | LIPA | c.824_825del (p.Ser275Ter) c.656_657del (p.Ser219Ter) c.476_477del (p.Ser159Ter) | |
10 | g.89222581G>A | CA377516792 | LIPA | c.824C>T (p.Ser275Phe) c.656C>T (p.Ser219Phe) c.476C>T (p.Ser159Phe) | |
10 | g.89222581G>C | CA377516791 | LIPA | c.824C>G (p.Ser275Cys) c.656C>G (p.Ser219Cys) c.476C>G (p.Ser159Cys) | |
10 | g.89222581G>T | CA377516790 | LIPA | c.824C>A (p.Ser275Tyr) c.656C>A (p.Ser219Tyr) c.476C>A (p.Ser159Tyr) | gnomAD v4 |
10 | g.89222582A>C | CA377516793 | LIPA | c.823T>G (p.Ser275Ala) c.655T>G (p.Ser219Ala) c.475T>G (p.Ser159Ala) | |
10 | g.89222582A>G | CA377516794 | LIPA | c.823T>C (p.Ser275Pro) c.655T>C (p.Ser219Pro) c.475T>C (p.Ser159Pro) | gnomAD v4 |
10 | g.89222582A>T | CA377516795 | LIPA | c.823T>A (p.Ser275Thr) c.655T>A (p.Ser219Thr) c.475T>A (p.Ser159Thr) | |
10 | g.89222583C>A | CA377516796 | LIPA | c.823-1G>T (n.823-1G>T) c.655-1G>T (n.655-1G>T) c.475-1G>T (n.475-1G>T) | |
10 | g.89222583C>G | CA377516797 | LIPA | c.823-1G>C (n.823-1G>C) c.655-1G>C (n.655-1G>C) c.475-1G>C (n.475-1G>C) | |
10 | g.89222583C>T | CA377516798 | LIPA | c.823-1G>A (n.823-1G>A) c.655-1G>A (n.655-1G>A) c.475-1G>A (n.475-1G>A) | ClinVar gnomAD v4 |
10 | g.89222584T>A | CA377516799 | LIPA | c.823-2A>T (n.823-2A>T) c.655-2A>T (n.655-2A>T) c.475-2A>T (n.475-2A>T) | |
10 | g.89222584T>C | CA377516800 | LIPA | c.823-2A>G (n.823-2A>G) c.655-2A>G (n.655-2A>G) c.475-2A>G (n.475-2A>G) | ClinVar gnomAD v4 |
10 | g.89222584T>G | CA377516801 | LIPA | c.823-2A>C (n.823-2A>C) c.655-2A>C (n.655-2A>C) c.475-2A>C (n.475-2A>C) | |
10 | g.89222585G>A | CA2610080805 | LIPA | c.823-3C>T (n.823-3C>T) c.655-3C>T (n.655-3C>T) c.475-3C>T (n.475-3C>T) | gnomAD v4 |
10 | g.89222585G>T | CA2610080806 | LIPA | c.823-3C>A (n.823-3C>A) c.655-3C>A (n.655-3C>A) c.475-3C>A (n.475-3C>A) | gnomAD v4 |
10 | g.89222586C>A | CA2610080807 | LIPA | c.823-4G>T (n.823-4G>T) c.655-4G>T (n.655-4G>T) c.475-4G>T (n.475-4G>T) | ClinVar gnomAD v4 |
10 | g.89222586C>T | CA2610080808 | LIPA | c.823-4G>A (n.823-4G>A) c.655-4G>A (n.655-4G>A) c.475-4G>A (n.475-4G>A) | gnomAD v4 |
10 | g.89222587A>G | CA2610080810 | LIPA | c.823-5T>C (n.823-5T>C) c.655-5T>C (n.655-5T>C) c.475-5T>C (n.475-5T>C) | gnomAD v4 |
10 | g.89222590del | CA2610080809 | LIPA | c.823-5del (n.823-5del) c.655-5del (n.655-5del) c.475-5del (n.475-5del) | gnomAD v4 |
10 | g.89222588A= | CA1926733142 | LIPA | c.823-6T= (n.823-6T=) c.655-6T= (n.655-6T=) c.475-6T= (n.475-6T=) | |
10 | g.89222588A>G | CA211366183 | LIPA | c.823-6T>C (n.823-6T>C) c.655-6T>C (n.655-6T>C) c.475-6T>C (n.475-6T>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222589A>G | CA2610080811 | LIPA | c.823-7T>C (n.823-7T>C) c.655-7T>C (n.655-7T>C) c.475-7T>C (n.475-7T>C) | gnomAD v4 |