Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
10 | g.89222590A>G | CA2610080812 | LIPA | c.823-8T>C (n.823-8T>C) c.655-8T>C (n.655-8T>C) c.475-8T>C (n.475-8T>C) | gnomAD v4 |
10 | g.89222591T>C | CA669676378 | LIPA | c.823-9A>G (n.823-9A>G) c.655-9A>G (n.655-9A>G) c.475-9A>G (n.475-9A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222591T= | CA1926733143 | LIPA | c.823-9A= (n.823-9A=) c.655-9A= (n.655-9A=) c.475-9A= (n.475-9A=) | |
10 | g.89222592A>G | CA2610080813 | LIPA | c.823-10T>C (n.823-10T>C) c.655-10T>C (n.655-10T>C) c.475-10T>C (n.475-10T>C) | gnomAD v4 |
10 | g.89222595T>C | CA5593594 | LIPA | c.823-13A>G (n.823-13A>G) c.655-13A>G (n.655-13A>G) c.475-13A>G (n.475-13A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222595T= | CA1926733144 | LIPA | c.823-13A= (n.823-13A=) c.655-13A= (n.655-13A=) c.475-13A= (n.475-13A=) | |
10 | g.89222596del | CA2610080814 | LIPA | c.823-14del (n.823-14del) c.655-14del (n.655-14del) c.475-14del (n.475-14del) | ClinVar gnomAD v4 |
10 | g.89222596A>G | CA2740093476 | LIPA | c.823-14T>C (n.823-14T>C) c.655-14T>C (n.655-14T>C) c.475-14T>C (n.475-14T>C) | ClinVar |
10 | g.89222597C>A | CA669676383 | LIPA | c.823-15G>T (n.823-15G>T) c.655-15G>T (n.655-15G>T) c.475-15G>T (n.475-15G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222597C= | CA1926733145 | LIPA | c.823-15G= (n.823-15G=) c.655-15G= (n.655-15G=) c.475-15G= (n.475-15G=) | |
10 | g.89222597C>T | CA2610080815 | LIPA | c.823-15G>A (n.823-15G>A) c.655-15G>A (n.655-15G>A) c.475-15G>A (n.475-15G>A) | gnomAD v4 |
10 | g.89222598A>G | CA2610080816 | LIPA | c.823-16T>C (n.823-16T>C) c.655-16T>C (n.655-16T>C) c.475-16T>C (n.475-16T>C) | gnomAD v4 |
10 | g.89222598A>T | CA2610080817 | LIPA | c.823-16T>A (n.823-16T>A) c.655-16T>A (n.655-16T>A) c.475-16T>A (n.475-16T>A) | gnomAD v4 |
10 | g.89222599T>A | CA669676388 | LIPA | c.823-17A>T (n.823-17A>T) c.655-17A>T (n.655-17A>T) c.475-17A>T (n.475-17A>T) | dbSNP |
10 | g.89222599T>C | CA5593595 | LIPA | c.823-17A>G (n.823-17A>G) c.655-17A>G (n.655-17A>G) c.475-17A>G (n.475-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222599T= | CA1926733146 | LIPA | c.823-17A= (n.823-17A=) c.655-17A= (n.655-17A=) c.475-17A= (n.475-17A=) | |
10 | g.89222600T>A | CA1926733148 | LIPA | c.823-18A>T (n.823-18A>T) c.655-18A>T (n.655-18A>T) c.475-18A>T (n.475-18A>T) | dbSNP |
10 | g.89222600T>G | CA2574605640 | LIPA | c.823-18A>C (n.823-18A>C) c.655-18A>C (n.655-18A>C) c.475-18A>C (n.475-18A>C) | |
10 | g.89222600T= | CA1926733147 | LIPA | c.823-18A= (n.823-18A=) c.655-18A= (n.655-18A=) c.475-18A= (n.475-18A=) | |
10 | g.89222601G>A | CA2574605641 | LIPA | c.823-19C>T (n.823-19C>T) c.655-19C>T (n.655-19C>T) c.475-19C>T (n.475-19C>T) | gnomAD v4 |
10 | g.89222601G>T | CA2610080818 | LIPA | c.823-19C>A (n.823-19C>A) c.655-19C>A (n.655-19C>A) c.475-19C>A (n.475-19C>A) | gnomAD v4 |
10 | g.89222602A>G | CA2610080819 | LIPA | c.823-20T>C (n.823-20T>C) c.655-20T>C (n.655-20T>C) c.475-20T>C (n.475-20T>C) | gnomAD v4 |
10 | g.89222603A>G | CA2610080820 | LIPA | c.823-21T>C (n.823-21T>C) c.655-21T>C (n.655-21T>C) c.475-21T>C (n.475-21T>C) | gnomAD v4 |
10 | g.89222603A>T | CA2574605642 | LIPA | c.823-21T>A (n.823-21T>A) c.655-21T>A (n.655-21T>A) c.475-21T>A (n.475-21T>A) | |
10 | g.89222604A>G | CA2610080821 | LIPA | c.823-22T>C (n.823-22T>C) c.655-22T>C (n.655-22T>C) c.475-22T>C (n.475-22T>C) | gnomAD v4 |
10 | g.89222604A>T | CA2537863837 | LIPA | c.823-22T>A (n.823-22T>A) c.655-22T>A (n.655-22T>A) c.475-22T>A (n.475-22T>A) | |
10 | g.89222605T>C | CA1926733150 | LIPA | c.823-23A>G (n.823-23A>G) c.655-23A>G (n.655-23A>G) c.475-23A>G (n.475-23A>G) | dbSNP gnomAD v4 |
10 | g.89222605T= | CA1926733149 | LIPA | c.823-23A= (n.823-23A=) c.655-23A= (n.655-23A=) c.475-23A= (n.475-23A=) | |
10 | g.89222606G>A | CA2502953410 | LIPA | c.823-24C>T (n.823-24C>T) c.655-24C>T (n.655-24C>T) c.475-24C>T (n.475-24C>T) | |
10 | g.89222606G= | CA1926733151 | LIPA | c.823-24C= (n.823-24C=) c.655-24C= (n.655-24C=) c.475-24C= (n.475-24C=) | |
10 | g.89222606G>T | CA594955305 | LIPA | c.823-24C>A (n.823-24C>A) c.655-24C>A (n.655-24C>A) c.475-24C>A (n.475-24C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.89222609_89222611del | CA2610080822 | LIPA | c.823-26_823-24del (n.823-26_823-24del) c.655-26_655-24del (n.655-26_655-24del) c.475-26_475-24del (n.475-26_475-24del) | gnomAD v4 |
10 | g.89222607A= | CA1926733152 | LIPA | c.823-25T= (n.823-25T=) c.655-25T= (n.655-25T=) c.475-25T= (n.475-25T=) | |
10 | g.89222607A>G | CA5593596 | LIPA | c.823-25T>C (n.823-25T>C) c.655-25T>C (n.655-25T>C) c.475-25T>C (n.475-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.89222608A= | CA1926733153 | LIPA | c.823-26T= (n.823-26T=) c.655-26T= (n.655-26T=) c.475-26T= (n.475-26T=) | |
10 | g.89222608A>G | CA1926733154 | LIPA | c.823-26T>C (n.823-26T>C) c.655-26T>C (n.655-26T>C) c.475-26T>C (n.475-26T>C) | dbSNP gnomAD v4 |
10 | g.89222609G>A | CA2610080823 | LIPA | c.823-27C>T (n.823-27C>T) c.655-27C>T (n.655-27C>T) c.475-27C>T (n.475-27C>T) | gnomAD v4 |
10 | g.89222609G>T | CA2610080824 | LIPA | c.823-27C>A (n.823-27C>A) c.655-27C>A (n.655-27C>A) c.475-27C>A (n.475-27C>A) | gnomAD v4 |
10 | g.89222610A>T | CA2610080825 | LIPA | c.823-28T>A (n.823-28T>A) c.655-28T>A (n.655-28T>A) c.475-28T>A (n.475-28T>A) | gnomAD v4 |
10 | g.89222611A= | CA1926733155 | LIPA | c.823-29T= (n.823-29T=) c.655-29T= (n.655-29T=) c.475-29T= (n.475-29T=) | |
10 | g.89222611A>G | CA1926733156 | LIPA | c.823-29T>C (n.823-29T>C) c.655-29T>C (n.655-29T>C) c.475-29T>C (n.475-29T>C) | dbSNP |
10 | g.89222612T>A | CA2610080826 | LIPA | c.823-30A>T (n.823-30A>T) c.655-30A>T (n.655-30A>T) c.475-30A>T (n.475-30A>T) | gnomAD v4 |
10 | g.89222612T>C | CA211366192 | LIPA | c.823-30A>G (n.823-30A>G) c.655-30A>G (n.655-30A>G) c.475-30A>G (n.475-30A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222612T= | CA1926733157 | LIPA | c.823-30A= (n.823-30A=) c.655-30A= (n.655-30A=) c.475-30A= (n.475-30A=) | |
10 | g.89222613G>T | CA2574605643 | LIPA | c.823-31C>A (n.823-31C>A) c.655-31C>A (n.655-31C>A) c.475-31C>A (n.475-31C>A) | gnomAD v4 |
10 | g.89222617dup | CA2610080827 | LIPA | c.823-32dup (n.823-32dup) c.655-32dup (n.655-32dup) c.475-32dup (n.475-32dup) | gnomAD v4 |
10 | g.89222615A= | CA1926733158 | LIPA | c.823-33T= (n.823-33T=) c.655-33T= (n.655-33T=) c.475-33T= (n.475-33T=) | |
10 | g.89222615A>G | CA211366195 | LIPA | c.823-33T>C (n.823-33T>C) c.655-33T>C (n.655-33T>C) c.475-33T>C (n.475-33T>C) | dbSNP gnomAD v4 |
10 | g.89222615A>T | CA669676404 | LIPA | c.823-33T>A (n.823-33T>A) c.655-33T>A (n.655-33T>A) c.475-33T>A (n.475-33T>A) | dbSNP gnomAD v4 |
10 | g.89222616A>G | CA2574605644 | LIPA | c.823-34T>C (n.823-34T>C) c.655-34T>C (n.655-34T>C) c.475-34T>C (n.475-34T>C) | gnomAD v4 |
10 | g.89222617A= | CA1926733159 | LIPA | c.823-35T= (n.823-35T=) c.655-35T= (n.655-35T=) c.475-35T= (n.475-35T=) | |
10 | g.89222617A>C | CA594955307 | LIPA | c.823-35T>G (n.823-35T>G) c.655-35T>G (n.655-35T>G) c.475-35T>G (n.475-35T>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.89222617A>G | CA2610080828 | LIPA | c.823-35T>C (n.823-35T>C) c.655-35T>C (n.655-35T>C) c.475-35T>C (n.475-35T>C) | gnomAD v4 |
10 | g.89222618C= | CA1926733160 | LIPA | c.823-36G= (n.823-36G=) c.655-36G= (n.655-36G=) c.475-36G= (n.475-36G=) | |
10 | g.89222618C>T | CA1926733161 | LIPA | c.823-36G>A (n.823-36G>A) c.655-36G>A (n.655-36G>A) c.475-36G>A (n.475-36G>A) | dbSNP gnomAD v4 |
10 | g.89222619A>G | CA2610080829 | LIPA | c.823-37T>C (n.823-37T>C) c.655-37T>C (n.655-37T>C) c.475-37T>C (n.475-37T>C) | gnomAD v4 |
10 | g.89222619A>T | CA2542421195 | LIPA | c.823-37T>A (n.823-37T>A) c.655-37T>A (n.655-37T>A) c.475-37T>A (n.475-37T>A) | |
10 | g.89222620G>A | CA594955309 | LIPA | c.823-38C>T (n.823-38C>T) c.655-38C>T (n.655-38C>T) c.475-38C>T (n.475-38C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.89222620G= | CA1926733162 | LIPA | c.823-38C= (n.823-38C=) c.655-38C= (n.655-38C=) c.475-38C= (n.475-38C=) | |
10 | g.89222620G>T | CA2574605645 | LIPA | c.823-38C>A (n.823-38C>A) c.655-38C>A (n.655-38C>A) c.475-38C>A (n.475-38C>A) | gnomAD v4 |
10 | g.89222623T>C | CA5593597 | LIPA | c.823-41A>G (n.823-41A>G) c.655-41A>G (n.655-41A>G) c.475-41A>G (n.475-41A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222623T= | CA1926733163 | LIPA | c.823-41A= (n.823-41A=) c.655-41A= (n.655-41A=) c.475-41A= (n.475-41A=) | |
10 | g.89222624T>A | CA2574605646 | LIPA | c.823-42A>T (n.823-42A>T) c.655-42A>T (n.655-42A>T) c.475-42A>T (n.475-42A>T) | |
10 | g.89222624T>G | CA2513385457 | LIPA | c.823-42A>C (n.823-42A>C) c.655-42A>C (n.655-42A>C) c.475-42A>C (n.475-42A>C) | gnomAD v4 |
10 | g.89222627G>A | CA2610080831 | LIPA | c.823-45C>T (n.823-45C>T) c.655-45C>T (n.655-45C>T) c.475-45C>T (n.475-45C>T) | gnomAD v4 |
10 | g.89222627G>C | CA2610080830 | LIPA | c.823-45C>G (n.823-45C>G) c.655-45C>G (n.655-45C>G) c.475-45C>G (n.475-45C>G) | gnomAD v4 |
10 | g.89222627G>T | CA2574605647 | LIPA | c.823-45C>A (n.823-45C>A) c.655-45C>A (n.655-45C>A) c.475-45C>A (n.475-45C>A) | gnomAD v4 |
10 | g.89222628G>A | CA2610080832 | LIPA | c.823-46C>T (n.823-46C>T) c.655-46C>T (n.655-46C>T) c.475-46C>T (n.475-46C>T) | gnomAD v4 |
10 | g.89222628G>T | CA2574605648 | LIPA | c.823-46C>A (n.823-46C>A) c.655-46C>A (n.655-46C>A) c.475-46C>A (n.475-46C>A) | gnomAD v4 |
10 | g.89222629T>A | CA2527328765 | LIPA | c.823-47A>T (n.823-47A>T) c.655-47A>T (n.655-47A>T) c.475-47A>T (n.475-47A>T) | |
10 | g.89222630G= | CA1926733164 | LIPA | c.823-48C= (n.823-48C=) c.655-48C= (n.655-48C=) c.475-48C= (n.475-48C=) | |
10 | g.89222630G>T | CA930986995 | LIPA | c.823-48C>A (n.823-48C>A) c.655-48C>A (n.655-48C>A) c.475-48C>A (n.475-48C>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222631G>A | CA669676430 | LIPA | c.823-49C>T (n.823-49C>T) c.655-49C>T (n.655-49C>T) c.475-49C>T (n.475-49C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222631G>C | CA1926733166 | LIPA | c.823-49C>G (n.823-49C>G) c.655-49C>G (n.655-49C>G) c.475-49C>G (n.475-49C>G) | dbSNP gnomAD v4 |
10 | g.89222631G= | CA1926733165 | LIPA | c.823-49C= (n.823-49C=) c.655-49C= (n.655-49C=) c.475-49C= (n.475-49C=) | |
10 | g.89222631G>T | CA2610080833 | LIPA | c.823-49C>A (n.823-49C>A) c.655-49C>A (n.655-49C>A) c.475-49C>A (n.475-49C>A) | gnomAD v4 |
10 | g.89222632C>A | CA2557935657 | LIPA | c.823-50G>T (n.823-50G>T) c.655-50G>T (n.655-50G>T) c.475-50G>T (n.475-50G>T) | |
10 | g.89222632C= | CA1926733167 | LIPA | c.823-50G= (n.823-50G=) c.655-50G= (n.655-50G=) c.475-50G= (n.475-50G=) | |
10 | g.89222632C>T | CA669676432 | LIPA | c.823-50G>A (n.823-50G>A) c.655-50G>A (n.655-50G>A) c.475-50G>A (n.475-50G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222633A= | CA1926733168 | LIPA | c.823-51T= (n.823-51T=) c.655-51T= (n.655-51T=) c.475-51T= (n.475-51T=) | |
10 | g.89222633A>G | CA211366198 | LIPA | c.823-51T>C (n.823-51T>C) c.655-51T>C (n.655-51T>C) c.475-51T>C (n.475-51T>C) | dbSNP gnomAD v4 |
10 | g.89222634T>A | CA2610080834 | LIPA | c.823-52A>T (n.823-52A>T) c.655-52A>T (n.655-52A>T) c.475-52A>T (n.475-52A>T) | gnomAD v4 |
10 | g.89222634T>C | CA5593598 | LIPA | c.823-52A>G (n.823-52A>G) c.655-52A>G (n.655-52A>G) c.475-52A>G (n.475-52A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222634T= | CA1926733169 | LIPA | c.823-52A= (n.823-52A=) c.655-52A= (n.655-52A=) c.475-52A= (n.475-52A=) | |
10 | g.89222635T>C | CA2610080835 | LIPA | c.823-53A>G (n.823-53A>G) c.655-53A>G (n.655-53A>G) c.475-53A>G (n.475-53A>G) | gnomAD v4 |
10 | g.89222635T>G | CA2610080836 | LIPA | c.823-53A>C (n.823-53A>C) c.655-53A>C (n.655-53A>C) c.475-53A>C (n.475-53A>C) | gnomAD v4 |
10 | g.89222636G>A | CA1926733172 | LIPA | c.823-54C>T (n.823-54C>T) c.655-54C>T (n.655-54C>T) c.475-54C>T (n.475-54C>T) | dbSNP |
10 | g.89222636G= | CA1926733171 | LIPA | c.823-54C= (n.823-54C=) c.655-54C= (n.655-54C=) c.475-54C= (n.475-54C=) | |
10 | g.89222636G>T | CA2574605649 | LIPA | c.823-54C>A (n.823-54C>A) c.655-54C>A (n.655-54C>A) c.475-54C>A (n.475-54C>A) | gnomAD v4 |
10 | g.89222636_89222639delinsGATA | CA1926733170 | LIPA | c.823-57_823-54delinsTATC (n.823-57_823-54delinsTATC) c.655-57_655-54delinsTATC (n.655-57_655-54delinsTATC) c.475-57_475-54delinsTATC (n.475-57_475-54delinsTATC) | |
10 | g.89222641_89222643del | CA211366203 | LIPA | c.823-57_823-55del (n.823-57_823-55del) c.655-57_655-55del (n.655-57_655-55del) c.475-57_475-55del (n.475-57_475-55del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.89222638T>A | CA669676442 | LIPA | c.823-56A>T (n.823-56A>T) c.655-56A>T (n.655-56A>T) c.475-56A>T (n.475-56A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222638T>C | CA211366208 | LIPA | c.823-56A>G (n.823-56A>G) c.655-56A>G (n.655-56A>G) c.475-56A>G (n.475-56A>G) | dbSNP |
10 | g.89222638T= | CA1926733173 | LIPA | c.823-56A= (n.823-56A=) c.655-56A= (n.655-56A=) c.475-56A= (n.475-56A=) | |
10 | g.89222639A>G | CA2571665908 | LIPA | c.823-57T>C (n.823-57T>C) c.655-57T>C (n.655-57T>C) c.475-57T>C (n.475-57T>C) | |
10 | g.89222641T>C | CA1926733175 | LIPA | c.823-59A>G (n.823-59A>G) c.655-59A>G (n.655-59A>G) c.475-59A>G (n.475-59A>G) | dbSNP |
10 | g.89222641T= | CA1926733174 | LIPA | c.823-59A= (n.823-59A=) c.655-59A= (n.655-59A=) c.475-59A= (n.475-59A=) | |
10 | g.89222644A= | CA1926733176 | LIPA | c.823-62T= (n.823-62T=) c.655-62T= (n.655-62T=) c.475-62T= (n.475-62T=) | |
10 | g.89222644A>C | CA1926733177 | LIPA | c.823-62T>G (n.823-62T>G) c.655-62T>G (n.655-62T>G) c.475-62T>G (n.475-62T>G) | dbSNP |
10 | g.89222644A>T | CA2610080837 | LIPA | c.823-62T>A (n.823-62T>A) c.655-62T>A (n.655-62T>A) c.475-62T>A (n.475-62T>A) | gnomAD v4 |
10 | g.89222645C= | CA1926733178 | LIPA | c.823-63G= (n.823-63G=) c.655-63G= (n.655-63G=) c.475-63G= (n.475-63G=) | |
10 | g.89222645C>T | CA1926733179 | LIPA | c.823-63G>A (n.823-63G>A) c.655-63G>A (n.655-63G>A) c.475-63G>A (n.475-63G>A) | dbSNP gnomAD v4 |
10 | g.89222645_89222647del | CA2522951076 | LIPA | c.823-65_823-63del (n.823-65_823-63del) c.655-65_655-63del (n.655-65_655-63del) c.475-65_475-63del (n.475-65_475-63del) | |
10 | g.89222647T>C | CA2610080838 | LIPA | c.823-65A>G (n.823-65A>G) c.655-65A>G (n.655-65A>G) c.475-65A>G (n.475-65A>G) | gnomAD v4 |
10 | g.89222648T>A | CA2610080839 | LIPA | c.823-66A>T (n.823-66A>T) c.655-66A>T (n.655-66A>T) c.475-66A>T (n.475-66A>T) | gnomAD v4 |
10 | g.89222648T>C | CA1926733180 | LIPA | c.823-66A>G (n.823-66A>G) c.655-66A>G (n.655-66A>G) c.475-66A>G (n.475-66A>G) | dbSNP |
10 | g.89222648T= | CA1926733181 | LIPA | c.823-66A= (n.823-66A=) c.655-66A= (n.655-66A=) c.475-66A= (n.475-66A=) | |
10 | g.89222649G>A | CA2567134075 | LIPA | c.823-67C>T (n.823-67C>T) c.655-67C>T (n.655-67C>T) c.475-67C>T (n.475-67C>T) | gnomAD v4 |
10 | g.89222650T>A | CA2610080840 | LIPA | c.823-68A>T (n.823-68A>T) c.655-68A>T (n.655-68A>T) c.475-68A>T (n.475-68A>T) | gnomAD v4 |
10 | g.89222650T>C | CA211366214 | LIPA | c.823-68A>G (n.823-68A>G) c.655-68A>G (n.655-68A>G) c.475-68A>G (n.475-68A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.89222650T= | CA1926733182 | LIPA | c.823-68A= (n.823-68A=) c.655-68A= (n.655-68A=) c.475-68A= (n.475-68A=) | |
10 | g.89222652T>G | CA2610080843 | LIPA | c.823-70A>C (n.823-70A>C) c.655-70A>C (n.655-70A>C) c.475-70A>C (n.475-70A>C) | gnomAD v4 |
10 | g.89222653T>G | CA2610080845 | LIPA | c.823-71A>C (n.823-71A>C) c.655-71A>C (n.655-71A>C) c.475-71A>C (n.475-71A>C) | gnomAD v4 |
10 | g.89222654T>C | CA2554844540 | LIPA | c.823-72A>G (n.823-72A>G) c.655-72A>G (n.655-72A>G) c.475-72A>G (n.475-72A>G) | |
10 | g.89222654T>G | CA2610080846 | LIPA | c.823-72A>C (n.823-72A>C) c.655-72A>C (n.655-72A>C) c.475-72A>C (n.475-72A>C) | gnomAD v4 |
10 | g.89222654_89222675delinsTTGCCCTTCAAAGCACTAAAAA | CA1926733183 | LIPA | c.823-93_823-72delinsTTTTTAGTGCTTTGAAGGGCAA (n.823-93_823-72delinsTTTTTAGTGCTTTGAAGGGCAA) c.655-93_655-72delinsTTTTTAGTGCTTTGAAGGGCAA (n.655-93_655-72delinsTTTTTAGTGCTTTGAAGGGCAA) c.475-93_475-72delinsTTTTTAGTGCTTTGAAGGGCAA (n.475-93_475-72delinsTTTTTAGTGCTTTGAAGGGCAA) |