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.21568100_21568101del | CA2739272371 | ALPL | c.649-4_649-3del (n.649-4_649-3del) c.418-4_418-3del (n.418-4_418-3del) c.484-4_484-3del (n.484-4_484-3del) c.493-4_493-3del (n.493-4_493-3del) | ClinVar |
| 1 | g.21568101T>C | CA2580061474 | ALPL | c.649-3T>C (n.649-3T>C) c.418-3T>C (n.418-3T>C) c.484-3T>C (n.484-3T>C) c.493-3T>C (n.493-3T>C) | ClinVar |
| 1 | g.21568101_21568103delinsAA | CA2586964039 | ALPL | c.649-3_649-1delinsAA (n.649-3_649-1delinsAA) c.418-3_418-1delinsAA (n.418-3_418-1delinsAA) c.484-3_484-1delinsAA (n.484-3_484-1delinsAA) c.493-3_493-1delinsAA (n.493-3_493-1delinsAA) | |
| 1 | g.21568102A>C | CA338878997 | ALPL | c.649-2A>C (n.649-2A>C) c.418-2A>C (n.418-2A>C) c.484-2A>C (n.484-2A>C) c.493-2A>C (n.493-2A>C) | |
| 1 | g.21568102A>G | CA338878995 | ALPL | c.649-2A>G (n.649-2A>G) c.418-2A>G (n.418-2A>G) c.484-2A>G (n.484-2A>G) c.493-2A>G (n.493-2A>G) | |
| 1 | g.21568102A>T | CA338878993 | ALPL | c.649-2A>T (n.649-2A>T) c.418-2A>T (n.418-2A>T) c.484-2A>T (n.484-2A>T) c.493-2A>T (n.493-2A>T) | |
| 1 | g.21568103G>A | CA338878999 | ALPL | c.649-1G>A (n.649-1G>A) c.418-1G>A (n.418-1G>A) c.484-1G>A (n.484-1G>A) c.493-1G>A (n.493-1G>A) | ClinVar dbSNP |
| 1 | g.21568103G>C | CA338879000 | ALPL | c.649-1G>C (n.649-1G>C) c.418-1G>C (n.418-1G>C) c.484-1G>C (n.484-1G>C) c.493-1G>C (n.493-1G>C) | gnomAD v4 |
| 1 | g.21568103G>T | CA338879002 | ALPL | c.649-1G>T (n.649-1G>T) c.418-1G>T (n.418-1G>T) c.484-1G>T (n.484-1G>T) c.493-1G>T (n.493-1G>T) | |
| 1 | g.21568104G>A | CA338879003 | ALPL | c.649G>A (p.Val217Met) c.418G>A (p.Val140Met) c.484G>A (p.Val162Met) c.493G>A (p.Val165Met) | dbSNP |
| 1 | g.21568104G>C | CA338879005 | ALPL | c.649G>C (p.Val217Leu) c.418G>C (p.Val140Leu) c.484G>C (p.Val162Leu) c.493G>C (p.Val165Leu) | |
| 1 | g.21568104G= | CA1158016125 | ALPL | c.649G= (p.Val217=) c.418G= (p.Val140=) c.484G= (p.Val162=) c.493G= (p.Val165=) | |
| 1 | g.21568104G>T | CA338879007 | ALPL | c.649G>T (p.Val217Leu) c.418G>T (p.Val140Leu) c.484G>T (p.Val162Leu) c.493G>T (p.Val165Leu) | |
| 1 | g.21568104_21568105delinsGT | CA1158016126 | ALPL | c.649_650delinsGT (p.Val217=) c.418_419delinsGT (p.Val140=) c.484_485delinsGT (p.Val162=) c.493_494delinsGT (p.Val165=) | |
| 1 | g.21568104_21568105insC | CA666566 | ALPL | c.649_650insC (p.Val217AlafsTer15) c.418_419insC (p.Val140AlafsTer15) c.484_485insC (p.Val162AlafsTer15) c.493_494insC (p.Val165AlafsTer15) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568104_21568105insCTA | CA1158016128 | ALPL | c.649_650insCTA (p.Val217delinsAlaMet) c.418_419insCTA (p.Val140delinsAlaMet) c.484_485insCTA (p.Val162delinsAlaMet) c.493_494insCTA (p.Val165delinsAlaMet) | ClinVar dbSNP |
| 1 | g.21568105T>A | CA338879010 | ALPL | c.650T>A (p.Val217Glu) c.419T>A (p.Val140Glu) c.485T>A (p.Val162Glu) c.494T>A (p.Val165Glu) | dbSNP |
| 1 | g.21568105T>C | CA666567 | ALPL | c.650T>C (p.Val217Ala) c.419T>C (p.Val140Ala) c.485T>C (p.Val162Ala) c.494T>C (p.Val165Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568105T>G | CA338879011 | ALPL | c.650T>G (p.Val217Gly) c.419T>G (p.Val140Gly) c.485T>G (p.Val162Gly) c.494T>G (p.Val165Gly) | |
| 1 | g.21568105T= | CA1158016127 | ALPL | c.650T= (p.Val217=) c.419T= (p.Val140=) c.485T= (p.Val162=) c.494T= (p.Val165=) | |
| 1 | g.21568105delinsCTAA | CA658820988 | ALPL | c.650delinsCTAA (p.Val217delinsAlaLys) c.419delinsCTAA (p.Val140delinsAlaLys) c.485delinsCTAA (p.Val162delinsAlaLys) c.494delinsCTAA (p.Val165delinsAlaLys) | ClinVar dbSNP |
| 1 | g.21568105_21568106insAA | CA666568 | ALPL | c.650_651insAA (p.Ile218ArgfsTer?) c.419_420insAA (p.Ile141ArgfsTer?) c.485_486insAA (p.Ile163ArgfsTer?) c.494_495insAA (p.Ile166ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568106G>A | CA416529862 | ALPL | c.651G>A (p.Val217=) c.420G>A (p.Val140=) c.486G>A (p.Val162=) c.495G>A (p.Val165=) | |
| 1 | g.21568106G>C | CA416529864 | ALPL | c.651G>C (p.Val217=) c.420G>C (p.Val140=) c.486G>C (p.Val162=) c.495G>C (p.Val165=) | |
| 1 | g.21568106G>T | CA416529867 | ALPL | c.651G>T (p.Val217=) c.420G>T (p.Val140=) c.486G>T (p.Val162=) c.495G>T (p.Val165=) | |
| 1 | g.21568107A>C | CA338879014 | ALPL | c.652A>C (p.Ile218Leu) c.421A>C (p.Ile141Leu) c.487A>C (p.Ile163Leu) c.496A>C (p.Ile166Leu) | |
| 1 | g.21568107A>G | CA338879015 | ALPL | c.652A>G (p.Ile218Val) c.421A>G (p.Ile141Val) c.487A>G (p.Ile163Val) c.496A>G (p.Ile166Val) | |
| 1 | g.21568107A>T | CA338879016 | ALPL | c.652A>T (p.Ile218Phe) c.421A>T (p.Ile141Phe) c.487A>T (p.Ile163Phe) c.496A>T (p.Ile166Phe) | |
| 1 | g.21568108T>A | CA666569 | ALPL | c.653T>A (p.Ile218Asn) c.422T>A (p.Ile141Asn) c.488T>A (p.Ile163Asn) c.497T>A (p.Ile166Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568108T>C | CA338879021 | ALPL | c.653T>C (p.Ile218Thr) c.422T>C (p.Ile141Thr) c.488T>C (p.Ile163Thr) c.497T>C (p.Ile166Thr) | gnomAD v4 |
| 1 | g.21568108T>G | CA338879019 | ALPL | c.653T>G (p.Ile218Ser) c.422T>G (p.Ile141Ser) c.488T>G (p.Ile163Ser) c.497T>G (p.Ile166Ser) | |
| 1 | g.21568108T= | CA1148278875 | ALPL | c.653T= (p.Ile218=) c.422T= (p.Ile141=) c.488T= (p.Ile163=) c.497T= (p.Ile166=) | |
| 1 | g.21568109C>A | CA416529879 | ALPL | c.654C>A (p.Ile218=) c.423C>A (p.Ile141=) c.489C>A (p.Ile163=) c.498C>A (p.Ile166=) | |
| 1 | g.21568109C>G | CA338879022 | ALPL | c.654C>G (p.Ile218Met) c.423C>G (p.Ile141Met) c.489C>G (p.Ile163Met) c.498C>G (p.Ile166Met) | gnomAD v4 |
| 1 | g.21568109C>T | CA416529877 | ALPL | c.654C>T (p.Ile218=) c.423C>T (p.Ile141=) c.489C>T (p.Ile163=) c.498C>T (p.Ile166=) | COSMIC |
| 1 | g.21568110A= | CA1158016129 | ALPL | c.655A= (p.Met219=) c.424A= (p.Met142=) c.490A= (p.Met164=) c.499A= (p.Met167=) | |
| 1 | g.21568110A>C | CA338879024 | ALPL | c.655A>C (p.Met219Leu) c.424A>C (p.Met142Leu) c.490A>C (p.Met164Leu) c.499A>C (p.Met167Leu) | dbSNP |
| 1 | g.21568110A>G | CA666570 | ALPL | c.655A>G (p.Met219Val) c.424A>G (p.Met142Val) c.490A>G (p.Met164Val) c.499A>G (p.Met167Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568110A>T | CA338879027 | ALPL | c.655A>T (p.Met219Leu) c.424A>T (p.Met142Leu) c.490A>T (p.Met164Leu) c.499A>T (p.Met167Leu) | |
| 1 | g.21568111T>A | CA338879029 | ALPL | c.656T>A (p.Met219Lys) c.425T>A (p.Met142Lys) c.491T>A (p.Met164Lys) c.500T>A (p.Met167Lys) | |
| 1 | g.21568111T>C | CA338879031 | ALPL | c.656T>C (p.Met219Thr) c.425T>C (p.Met142Thr) c.491T>C (p.Met164Thr) c.500T>C (p.Met167Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568111T>G | CA338879032 | ALPL | c.656T>G (p.Met219Arg) c.425T>G (p.Met142Arg) c.491T>G (p.Met164Arg) c.500T>G (p.Met167Arg) | |
| 1 | g.21568111T= | CA1158016131 | ALPL | c.656T= (p.Met219=) c.425T= (p.Met142=) c.491T= (p.Met164=) c.500T= (p.Met167=) | |
| 1 | g.21568111_21568112delinsTG | CA1158016130 | ALPL | c.656_657delinsTG (p.Met219=) c.425_426delinsTG (p.Met142=) c.491_492delinsTG (p.Met164=) c.500_501delinsTG (p.Met167=) | |
| 1 | g.21568112G>A | CA338879036 | ALPL | c.657G>A (p.Met219Ile) c.426G>A (p.Met142Ile) c.492G>A (p.Met164Ile) c.501G>A (p.Met167Ile) | |
| 1 | g.21568112G>C | CA338879037 | ALPL | c.657G>C (p.Met219Ile) c.426G>C (p.Met142Ile) c.492G>C (p.Met164Ile) c.501G>C (p.Met167Ile) | |
| 1 | g.21568112G= | CA1158016132 | ALPL | c.657G= (p.Met219=) c.426G= (p.Met142=) c.492G= (p.Met164=) c.501G= (p.Met167=) | |
| 1 | g.21568112G>T | CA666572 | ALPL | c.657G>T (p.Met219Ile) c.426G>T (p.Met142Ile) c.492G>T (p.Met164Ile) c.501G>T (p.Met167Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568117dup | CA16040717 | ALPL | c.662dup (p.Gly222TrpfsTer10) c.431dup (p.Gly145TrpfsTer10) c.497dup (p.Gly167TrpfsTer10) c.506dup (p.Gly170TrpfsTer10) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568117del | CA666571 | ALPL | c.662del (p.Gly221ValfsTer?) c.431del (p.Gly144ValfsTer?) c.497del (p.Gly166ValfsTer?) c.506del (p.Gly169ValfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21568113G>A | CA666573 | ALPL | c.658G>A (p.Gly220Arg) c.427G>A (p.Gly143Arg) c.493G>A (p.Gly165Arg) c.502G>A (p.Gly168Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568113G>C | CA338879042 | ALPL | c.658G>C (p.Gly220Arg) c.427G>C (p.Gly143Arg) c.493G>C (p.Gly165Arg) c.502G>C (p.Gly168Arg) | |
| 1 | g.21568113G= | CA1148465515 | ALPL | c.658G= (p.Gly220=) c.427G= (p.Gly143=) c.493G= (p.Gly165=) c.502G= (p.Gly168=) | |
| 1 | g.21568113G>T | CA338879044 | ALPL | c.658G>T (p.Gly220Trp) c.427G>T (p.Gly143Trp) c.493G>T (p.Gly165Trp) c.502G>T (p.Gly168Trp) | |
| 1 | g.21568114G>A | CA338879047 | ALPL | c.659G>A (p.Gly220Glu) c.428G>A (p.Gly143Glu) c.494G>A (p.Gly165Glu) c.503G>A (p.Gly168Glu) | ClinVar gnomAD v4 |
| 1 | g.21568114G>C | CA338879046 | ALPL | c.659G>C (p.Gly220Ala) c.428G>C (p.Gly143Ala) c.494G>C (p.Gly165Ala) c.503G>C (p.Gly168Ala) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568114G= | CA1158016133 | ALPL | c.659G= (p.Gly220=) c.428G= (p.Gly143=) c.494G= (p.Gly165=) c.503G= (p.Gly168=) | |
| 1 | g.21568114G>T | CA338879049 | ALPL | c.659G>T (p.Gly220Val) c.428G>T (p.Gly143Val) c.494G>T (p.Gly165Val) c.503G>T (p.Gly168Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568115G>A | CA416529895 | ALPL | c.660G>A (p.Gly220=) c.429G>A (p.Gly143=) c.495G>A (p.Gly165=) c.504G>A (p.Gly168=) | |
| 1 | g.21568115G>C | CA416529896 | ALPL | c.660G>C (p.Gly220=) c.429G>C (p.Gly143=) c.495G>C (p.Gly165=) c.504G>C (p.Gly168=) | |
| 1 | g.21568115G= | CA1158016134 | ALPL | c.660G= (p.Gly220=) c.429G= (p.Gly143=) c.495G= (p.Gly165=) c.504G= (p.Gly168=) | |
| 1 | g.21568115G>T | CA416529893 | ALPL | c.660G>T (p.Gly220=) c.429G>T (p.Gly143=) c.495G>T (p.Gly165=) c.504G>T (p.Gly168=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21568116G>A | CA338879051 | ALPL | c.661G>A (p.Gly221Ser) c.430G>A (p.Gly144Ser) c.496G>A (p.Gly166Ser) c.505G>A (p.Gly169Ser) | |
| 1 | g.21568116G>C | CA666574 | ALPL | c.661G>C (p.Gly221Arg) c.430G>C (p.Gly144Arg) c.496G>C (p.Gly166Arg) c.505G>C (p.Gly169Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568116G= | CA1158016135 | ALPL | c.661G= (p.Gly221=) c.430G= (p.Gly144=) c.496G= (p.Gly166=) c.505G= (p.Gly169=) | |
| 1 | g.21568116G>T | CA338879053 | ALPL | c.661G>T (p.Gly221Cys) c.430G>T (p.Gly144Cys) c.496G>T (p.Gly166Cys) c.505G>T (p.Gly169Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568117G>A | CA338879056 | ALPL | c.662G>A (p.Gly221Asp) c.431G>A (p.Gly144Asp) c.497G>A (p.Gly166Asp) c.506G>A (p.Gly169Asp) | |
| 1 | g.21568117G>C | CA666575 | ALPL | c.662G>C (p.Gly221Ala) c.431G>C (p.Gly144Ala) c.497G>C (p.Gly166Ala) c.506G>C (p.Gly169Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568117G= | CA1147211666 | ALPL | c.662G= (p.Gly221=) c.431G= (p.Gly144=) c.497G= (p.Gly166=) c.506G= (p.Gly169=) | |
| 1 | g.21568117G>T | CA666576 | ALPL | c.662G>T (p.Gly221Val) c.431G>T (p.Gly144Val) c.497G>T (p.Gly166Val) c.506G>T (p.Gly169Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568118T>A | CA416529904 | ALPL | c.663T>A (p.Gly221=) c.432T>A (p.Gly144=) c.498T>A (p.Gly166=) c.507T>A (p.Gly169=) | |
| 1 | g.21568118T>C | CA416529903 | ALPL | c.663T>C (p.Gly221=) c.432T>C (p.Gly144=) c.498T>C (p.Gly166=) c.507T>C (p.Gly169=) | gnomAD v4 |
| 1 | g.21568118T>G | CA416529905 | ALPL | c.663T>G (p.Gly221=) c.432T>G (p.Gly144=) c.498T>G (p.Gly166=) c.507T>G (p.Gly169=) | dbSNP |
| 1 | g.21568118T= | CA1158016136 | ALPL | c.663T= (p.Gly221=) c.432T= (p.Gly144=) c.498T= (p.Gly166=) c.507T= (p.Gly169=) | |
| 1 | g.21568119G>A | CA338879058 | ALPL | c.664G>A (p.Gly222Ser) c.433G>A (p.Gly145Ser) c.499G>A (p.Gly167Ser) c.508G>A (p.Gly170Ser) | |
| 1 | g.21568119G>C | CA338879060 | ALPL | c.664G>C (p.Gly222Arg) c.433G>C (p.Gly145Arg) c.499G>C (p.Gly167Arg) c.508G>C (p.Gly170Arg) | |
| 1 | g.21568119G>T | CA338879062 | ALPL | c.664G>T (p.Gly222Cys) c.433G>T (p.Gly145Cys) c.499G>T (p.Gly167Cys) c.508G>T (p.Gly170Cys) | |
| 1 | g.21568120G>A | CA338879064 | ALPL | c.665G>A (p.Gly222Asp) c.434G>A (p.Gly145Asp) c.500G>A (p.Gly167Asp) c.509G>A (p.Gly170Asp) | |
| 1 | g.21568120G>C | CA338879065 | ALPL | c.665G>C (p.Gly222Ala) c.434G>C (p.Gly145Ala) c.500G>C (p.Gly167Ala) c.509G>C (p.Gly170Ala) | |
| 1 | g.21568120G>T | CA338879067 | ALPL | c.665G>T (p.Gly222Val) c.434G>T (p.Gly145Val) c.500G>T (p.Gly167Val) c.509G>T (p.Gly170Val) | |
| 1 | g.21568121C>A | CA416529913 | ALPL | c.666C>A (p.Gly222=) c.435C>A (p.Gly145=) c.501C>A (p.Gly167=) c.510C>A (p.Gly170=) | |
| 1 | g.21568121C>G | CA416529915 | ALPL | c.666C>G (p.Gly222=) c.435C>G (p.Gly145=) c.501C>G (p.Gly167=) c.510C>G (p.Gly170=) | |
| 1 | g.21568121C>T | CA416529912 | ALPL | c.666C>T (p.Gly222=) c.435C>T (p.Gly145=) c.501C>T (p.Gly167=) c.510C>T (p.Gly170=) | ClinVar |
| 1 | g.21568122C>A | CA416529917 | ALPL | c.667C>A (p.Arg223=) c.436C>A (p.Arg146=) c.502C>A (p.Arg168=) c.511C>A (p.Arg171=) | |
| 1 | g.21568122C= | CA1158016137 | ALPL | c.667C= (p.Arg223=) c.436C= (p.Arg146=) c.502C= (p.Arg168=) c.511C= (p.Arg171=) | |
| 1 | g.21568122C>G | CA338879068 | ALPL | c.667C>G (p.Arg223Gly) c.436C>G (p.Arg146Gly) c.502C>G (p.Arg168Gly) c.511C>G (p.Arg171Gly) | |
| 1 | g.21568122C>T | CA274235 | ALPL | c.667C>T (p.Arg223Trp) c.436C>T (p.Arg146Trp) c.502C>T (p.Arg168Trp) c.511C>T (p.Arg171Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.21568123G>A | CA666577 | ALPL | c.668G>A (p.Arg223Gln) c.437G>A (p.Arg146Gln) c.503G>A (p.Arg168Gln) c.512G>A (p.Arg171Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568123G>C | CA338879072 | ALPL | c.668G>C (p.Arg223Pro) c.437G>C (p.Arg146Pro) c.503G>C (p.Arg168Pro) c.512G>C (p.Arg171Pro) | |
| 1 | g.21568123G= | CA1143366460 | ALPL | c.668G= (p.Arg223=) c.437G= (p.Arg146=) c.503G= (p.Arg168=) c.512G= (p.Arg171=) | |
| 1 | g.21568123G>T | CA338879074 | ALPL | c.668G>T (p.Arg223Leu) c.437G>T (p.Arg146Leu) c.503G>T (p.Arg168Leu) c.512G>T (p.Arg171Leu) | gnomAD v4 |
| 1 | g.21568124G>A | CA416529926 | ALPL | c.669G>A (p.Arg223=) c.438G>A (p.Arg146=) c.504G>A (p.Arg168=) c.513G>A (p.Arg171=) | ClinVar |
| 1 | g.21568124G>C | CA416529922 | ALPL | c.669G>C (p.Arg223=) c.438G>C (p.Arg146=) c.504G>C (p.Arg168=) c.513G>C (p.Arg171=) | |
| 1 | g.21568124G>T | CA416529924 | ALPL | c.669G>T (p.Arg223=) c.438G>T (p.Arg146=) c.504G>T (p.Arg168=) c.513G>T (p.Arg171=) | gnomAD v4 |
| 1 | g.21568125A= | CA1158016138 | ALPL | c.670A= (p.Lys224=) c.439A= (p.Lys147=) c.505A= (p.Lys169=) c.514A= (p.Lys172=) | |
| 1 | g.21568125A>C | CA338879079 | ALPL | c.670A>C (p.Lys224Gln) c.439A>C (p.Lys147Gln) c.505A>C (p.Lys169Gln) c.514A>C (p.Lys172Gln) | |
| 1 | g.21568125A>G | CA338879076 | ALPL | c.670A>G (p.Lys224Glu) c.439A>G (p.Lys147Glu) c.505A>G (p.Lys169Glu) c.514A>G (p.Lys172Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568125A>T | CA338879078 | ALPL | c.670A>T (p.Lys224Ter) c.439A>T (p.Lys147Ter) c.505A>T (p.Lys169Ter) c.514A>T (p.Lys172Ter) | |
| 1 | g.21568126A>C | CA338879081 | ALPL | c.671A>C (p.Lys224Thr) c.440A>C (p.Lys147Thr) c.506A>C (p.Lys169Thr) c.515A>C (p.Lys172Thr) | |
| 1 | g.21568126A>G | CA338879082 | ALPL | c.671A>G (p.Lys224Arg) c.440A>G (p.Lys147Arg) c.506A>G (p.Lys169Arg) c.515A>G (p.Lys172Arg) | |
| 1 | g.21568126A>T | CA338879084 | ALPL | c.671A>T (p.Lys224Ile) c.440A>T (p.Lys147Ile) c.506A>T (p.Lys169Ile) c.515A>T (p.Lys172Ile) | ClinVar |
| 1 | g.21568127A>C | CA338879086 | ALPL | c.672A>C (p.Lys224Asn) c.441A>C (p.Lys147Asn) c.507A>C (p.Lys169Asn) c.516A>C (p.Lys172Asn) | |
| 1 | g.21568127A>G | CA416529932 | ALPL | c.672A>G (p.Lys224=) c.441A>G (p.Lys147=) c.507A>G (p.Lys169=) c.516A>G (p.Lys172=) | |
| 1 | g.21568127A>T | CA338879087 | ALPL | c.672A>T (p.Lys224Asn) c.441A>T (p.Lys147Asn) c.507A>T (p.Lys169Asn) c.516A>T (p.Lys172Asn) | |
| 1 | g.21568128T>A | CA338879089 | ALPL | c.673T>A (p.Tyr225Asn) c.442T>A (p.Tyr148Asn) c.508T>A (p.Tyr170Asn) c.517T>A (p.Tyr173Asn) | |
| 1 | g.21568128T>C | CA666578 | ALPL | c.673T>C (p.Tyr225His) c.442T>C (p.Tyr148His) c.508T>C (p.Tyr170His) c.517T>C (p.Tyr173His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568128T>G | CA338879091 | ALPL | c.673T>G (p.Tyr225Asp) c.442T>G (p.Tyr148Asp) c.508T>G (p.Tyr170Asp) c.517T>G (p.Tyr173Asp) | |
| 1 | g.21568128T= | CA1158016139 | ALPL | c.673T= (p.Tyr225=) c.442T= (p.Tyr148=) c.508T= (p.Tyr170=) c.517T= (p.Tyr173=) | |
| 1 | g.21568129A>C | CA338879092 | ALPL | c.674A>C (p.Tyr225Ser) c.443A>C (p.Tyr148Ser) c.509A>C (p.Tyr170Ser) c.518A>C (p.Tyr173Ser) | |
| 1 | g.21568129A>G | CA338879094 | ALPL | c.674A>G (p.Tyr225Cys) c.443A>G (p.Tyr148Cys) c.509A>G (p.Tyr170Cys) c.518A>G (p.Tyr173Cys) | |
| 1 | g.21568129A>T | CA338879095 | ALPL | c.674A>T (p.Tyr225Phe) c.443A>T (p.Tyr148Phe) c.509A>T (p.Tyr170Phe) c.518A>T (p.Tyr173Phe) | |
| 1 | g.21568130C>A | CA338879098 | ALPL | c.675C>A (p.Tyr225Ter) c.444C>A (p.Tyr148Ter) c.510C>A (p.Tyr170Ter) c.519C>A (p.Tyr173Ter) | |
| 1 | g.21568130C= | CA1158016140 | ALPL | c.675C= (p.Tyr225=) c.444C= (p.Tyr148=) c.510C= (p.Tyr170=) c.519C= (p.Tyr173=) | |
| 1 | g.21568130C>G | CA338879097 | ALPL | c.675C>G (p.Tyr225Ter) c.444C>G (p.Tyr148Ter) c.510C>G (p.Tyr170Ter) c.519C>G (p.Tyr173Ter) | |
| 1 | g.21568130C>T | CA19063350 | ALPL | c.675C>T (p.Tyr225=) c.444C>T (p.Tyr148=) c.510C>T (p.Tyr170=) c.519C>T (p.Tyr173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568130_21568131insCA | CA2695197984 | ALPL | c.675_676insCA (p.Met226GlnfsTer?) c.444_445insCA (p.Met149GlnfsTer?) c.510_511insCA (p.Met171GlnfsTer?) c.519_520insCA (p.Met174GlnfsTer?) | ClinVar |
| 1 | g.21568131A= | CA1158016141 | ALPL | c.676A= (p.Met226=) c.445A= (p.Met149=) c.511A= (p.Met171=) c.520A= (p.Met174=) | |
| 1 | g.21568131A>C | CA666579 | ALPL | c.676A>C (p.Met226Leu) c.445A>C (p.Met149Leu) c.511A>C (p.Met171Leu) c.520A>C (p.Met174Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568131A>G | CA19063356 | ALPL | c.676A>G (p.Met226Val) c.445A>G (p.Met149Val) c.511A>G (p.Met171Val) c.520A>G (p.Met174Val) | dbSNP |
| 1 | g.21568131A>T | CA338879101 | ALPL | c.676A>T (p.Met226Leu) c.445A>T (p.Met149Leu) c.511A>T (p.Met171Leu) c.520A>T (p.Met174Leu) | |
| 1 | g.21568132T>A | CA338879103 | ALPL | c.677T>A (p.Met226Lys) c.446T>A (p.Met149Lys) c.512T>A (p.Met171Lys) c.521T>A (p.Met174Lys) | |
| 1 | g.21568132T>C | CA666580 | ALPL | c.677T>C (p.Met226Thr) c.446T>C (p.Met149Thr) c.512T>C (p.Met171Thr) c.521T>C (p.Met174Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568132T>G | CA338879105 | ALPL | c.677T>G (p.Met226Arg) c.446T>G (p.Met149Arg) c.512T>G (p.Met171Arg) c.521T>G (p.Met174Arg) | |
| 1 | g.21568132T= | CA1158016142 | ALPL | c.677T= (p.Met226=) c.446T= (p.Met149=) c.512T= (p.Met171=) c.521T= (p.Met174=) | |
| 1 | g.21568133G>A | CA338879109 | ALPL | c.678G>A (p.Met226Ile) c.447G>A (p.Met149Ile) c.513G>A (p.Met171Ile) c.522G>A (p.Met174Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21568133G>C | CA338879111 | ALPL | c.678G>C (p.Met226Ile) c.447G>C (p.Met149Ile) c.513G>C (p.Met171Ile) c.522G>C (p.Met174Ile) | |
| 1 | g.21568133G= | CA1158016143 | ALPL | c.678G= (p.Met226=) c.447G= (p.Met149=) c.513G= (p.Met171=) c.522G= (p.Met174=) | |
| 1 | g.21568133G>T | CA338879113 | ALPL | c.678G>T (p.Met226Ile) c.447G>T (p.Met149Ile) c.513G>T (p.Met171Ile) c.522G>T (p.Met174Ile) | |
| 1 | g.21568134T>A | CA338879114 | ALPL | c.679T>A (p.Tyr227Asn) c.448T>A (p.Tyr150Asn) c.514T>A (p.Tyr172Asn) c.523T>A (p.Tyr175Asn) | |
| 1 | g.21568134T>C | CA338879115 | ALPL | c.679T>C (p.Tyr227His) c.448T>C (p.Tyr150His) c.514T>C (p.Tyr172His) c.523T>C (p.Tyr175His) | |
| 1 | g.21568134T>G | CA338879117 | ALPL | c.679T>G (p.Tyr227Asp) c.448T>G (p.Tyr150Asp) c.514T>G (p.Tyr172Asp) c.523T>G (p.Tyr175Asp) | |
| 1 | g.21568135A= | CA1158016144 | ALPL | c.680A= (p.Tyr227=) c.449A= (p.Tyr150=) c.515A= (p.Tyr172=) c.524A= (p.Tyr175=) | |
| 1 | g.21568135A>C | CA338879122 | ALPL | c.680A>C (p.Tyr227Ser) c.449A>C (p.Tyr150Ser) c.515A>C (p.Tyr172Ser) c.524A>C (p.Tyr175Ser) | |
| 1 | g.21568135A>G | CA338879121 | ALPL | c.680A>G (p.Tyr227Cys) c.449A>G (p.Tyr150Cys) c.515A>G (p.Tyr172Cys) c.524A>G (p.Tyr175Cys) | dbSNP |
| 1 | g.21568135A>T | CA338879119 | ALPL | c.680A>T (p.Tyr227Phe) c.449A>T (p.Tyr150Phe) c.515A>T (p.Tyr172Phe) c.524A>T (p.Tyr175Phe) | |
| 1 | g.21568136C>A | CA338879124 | ALPL | c.681C>A (p.Tyr227Ter) c.450C>A (p.Tyr150Ter) c.516C>A (p.Tyr172Ter) c.525C>A (p.Tyr175Ter) | ClinVar gnomAD v4 |
| 1 | g.21568136C>G | CA338879125 | ALPL | c.681C>G (p.Tyr227Ter) c.450C>G (p.Tyr150Ter) c.516C>G (p.Tyr172Ter) c.525C>G (p.Tyr175Ter) | |
| 1 | g.21568136C>T | CA416529953 | ALPL | c.681C>T (p.Tyr227=) c.450C>T (p.Tyr150=) c.516C>T (p.Tyr172=) c.525C>T (p.Tyr175=) | gnomAD v4 |
| 1 | g.21568137C>A | CA338879127 | ALPL | c.682C>A (p.Pro228Thr) c.451C>A (p.Pro151Thr) c.517C>A (p.Pro173Thr) c.526C>A (p.Pro176Thr) | |
| 1 | g.21568137C>G | CA338879128 | ALPL | c.682C>G (p.Pro228Ala) c.451C>G (p.Pro151Ala) c.517C>G (p.Pro173Ala) c.526C>G (p.Pro176Ala) | |
| 1 | g.21568137C>T | CA338879129 | ALPL | c.682C>T (p.Pro228Ser) c.451C>T (p.Pro151Ser) c.517C>T (p.Pro173Ser) c.526C>T (p.Pro176Ser) | |
| 1 | g.21568138C>A | CA338879131 | ALPL | c.683C>A (p.Pro228His) c.452C>A (p.Pro151His) c.518C>A (p.Pro173His) c.527C>A (p.Pro176His) | |
| 1 | g.21568138C>G | CA338879133 | ALPL | c.683C>G (p.Pro228Arg) c.452C>G (p.Pro151Arg) c.518C>G (p.Pro173Arg) c.527C>G (p.Pro176Arg) | gnomAD v4 |
| 1 | g.21568138C>T | CA338879134 | ALPL | c.683C>T (p.Pro228Leu) c.452C>T (p.Pro151Leu) c.518C>T (p.Pro173Leu) c.527C>T (p.Pro176Leu) | |
| 1 | g.21568139C>A | CA416529962 | ALPL | c.684C>A (p.Pro228=) c.453C>A (p.Pro151=) c.519C>A (p.Pro173=) c.528C>A (p.Pro176=) | |
| 1 | g.21568139C= | CA1143671127 | ALPL | c.684C= (p.Pro228=) c.453C= (p.Pro151=) c.519C= (p.Pro173=) c.528C= (p.Pro176=) | |
| 1 | g.21568139C>G | CA416529963 | ALPL | c.684C>G (p.Pro228=) c.453C>G (p.Pro151=) c.519C>G (p.Pro173=) c.528C>G (p.Pro176=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568139C>T | CA666581 | ALPL | c.684C>T (p.Pro228=) c.453C>T (p.Pro151=) c.519C>T (p.Pro173=) c.528C>T (p.Pro176=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568140A>C | CA338879137 | ALPL | c.685A>C (p.Lys229Gln) c.454A>C (p.Lys152Gln) c.520A>C (p.Lys174Gln) c.529A>C (p.Lys177Gln) | |
| 1 | g.21568140A>G | CA338879139 | ALPL | c.685A>G (p.Lys229Glu) c.454A>G (p.Lys152Glu) c.520A>G (p.Lys174Glu) c.529A>G (p.Lys177Glu) | |
| 1 | g.21568140A>T | CA338879141 | ALPL | c.685A>T (p.Lys229Ter) c.454A>T (p.Lys152Ter) c.520A>T (p.Lys174Ter) c.529A>T (p.Lys177Ter) | |
| 1 | g.21568141A>C | CA338879146 | ALPL | c.686A>C (p.Lys229Thr) c.455A>C (p.Lys152Thr) c.521A>C (p.Lys174Thr) c.530A>C (p.Lys177Thr) | |
| 1 | g.21568141A>G | CA338879144 | ALPL | c.686A>G (p.Lys229Arg) c.455A>G (p.Lys152Arg) c.521A>G (p.Lys174Arg) c.530A>G (p.Lys177Arg) | gnomAD v4 |
| 1 | g.21568141A>T | CA338879142 | ALPL | c.686A>T (p.Lys229Met) c.455A>T (p.Lys152Met) c.521A>T (p.Lys174Met) c.530A>T (p.Lys177Met) | |
| 1 | g.21568142G>A | CA416529969 | ALPL | c.687G>A (p.Lys229=) c.456G>A (p.Lys152=) c.522G>A (p.Lys174=) c.531G>A (p.Lys177=) | gnomAD v4 |
| 1 | g.21568142G>C | CA338879147 | ALPL | c.687G>C (p.Lys229Asn) c.456G>C (p.Lys152Asn) c.522G>C (p.Lys174Asn) c.531G>C (p.Lys177Asn) | |
| 1 | g.21568142G= | CA1158016145 | ALPL | c.687G= (p.Lys229=) c.456G= (p.Lys152=) c.522G= (p.Lys174=) c.531G= (p.Lys177=) | |
| 1 | g.21568142G>T | CA666582 | ALPL | c.687G>T (p.Lys229Asn) c.456G>T (p.Lys152Asn) c.522G>T (p.Lys174Asn) c.531G>T (p.Lys177Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568143A= | CA1158016146 | ALPL | c.688A= (p.Asn230=) c.457A= (p.Asn153=) c.523A= (p.Asn175=) c.532A= (p.Asn178=) | |
| 1 | g.21568143A>C | CA338879150 | ALPL | c.688A>C (p.Asn230His) c.457A>C (p.Asn153His) c.523A>C (p.Asn175His) c.532A>C (p.Asn178His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568143A>G | CA338879152 | ALPL | c.688A>G (p.Asn230Asp) c.457A>G (p.Asn153Asp) c.523A>G (p.Asn175Asp) c.532A>G (p.Asn178Asp) | |
| 1 | g.21568143A>T | CA338879153 | ALPL | c.688A>T (p.Asn230Tyr) c.457A>T (p.Asn153Tyr) c.523A>T (p.Asn175Tyr) c.532A>T (p.Asn178Tyr) | |
| 1 | g.21568144A>C | CA338879154 | ALPL | c.689A>C (p.Asn230Thr) c.458A>C (p.Asn153Thr) c.524A>C (p.Asn175Thr) c.533A>C (p.Asn178Thr) | |
| 1 | g.21568144A>G | CA338879155 | ALPL | c.689A>G (p.Asn230Ser) c.458A>G (p.Asn153Ser) c.524A>G (p.Asn175Ser) c.533A>G (p.Asn178Ser) | |
| 1 | g.21568144A>T | CA338879156 | ALPL | c.689A>T (p.Asn230Ile) c.458A>T (p.Asn153Ile) c.524A>T (p.Asn175Ile) c.533A>T (p.Asn178Ile) | |
| 1 | g.21568145T>A | CA338879157 | ALPL | c.690T>A (p.Asn230Lys) c.459T>A (p.Asn153Lys) c.525T>A (p.Asn175Lys) c.534T>A (p.Asn178Lys) | |
| 1 | g.21568145T>C | CA416529977 | ALPL | c.690T>C (p.Asn230=) c.459T>C (p.Asn153=) c.525T>C (p.Asn175=) c.534T>C (p.Asn178=) | |
| 1 | g.21568145T>G | CA338879158 | ALPL | c.690T>G (p.Asn230Lys) c.459T>G (p.Asn153Lys) c.525T>G (p.Asn175Lys) c.534T>G (p.Asn178Lys) | |
| 1 | g.21568146A= | CA1148423842 | ALPL | c.691A= (p.Lys231=) c.460A= (p.Lys154=) c.526A= (p.Lys176=) c.535A= (p.Lys179=) | |
| 1 | g.21568146A>C | CA338879159 | ALPL | c.691A>C (p.Lys231Gln) c.460A>C (p.Lys154Gln) c.526A>C (p.Lys176Gln) c.535A>C (p.Lys179Gln) | |
| 1 | g.21568146A>G | CA666583 | ALPL | c.691A>G (p.Lys231Glu) c.460A>G (p.Lys154Glu) c.526A>G (p.Lys176Glu) c.535A>G (p.Lys179Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568146A>T | CA338879160 | ALPL | c.691A>T (p.Lys231Ter) c.460A>T (p.Lys154Ter) c.526A>T (p.Lys176Ter) c.535A>T (p.Lys179Ter) | |
| 1 | g.21568149dup | CA416529980 | ALPL | c.694dup (p.Thr232AsnfsTer2) c.463dup (p.Thr155AsnfsTer2) c.529dup (p.Thr177AsnfsTer2) c.538dup (p.Thr180AsnfsTer2) | COSMIC |
| 1 | g.21568147A= | CA1158016147 | ALPL | c.692A= (p.Lys231=) c.461A= (p.Lys154=) c.527A= (p.Lys176=) c.536A= (p.Lys179=) | |
| 1 | g.21568147A>C | CA338879162 | ALPL | c.692A>C (p.Lys231Thr) c.461A>C (p.Lys154Thr) c.527A>C (p.Lys176Thr) c.536A>C (p.Lys179Thr) | |
| 1 | g.21568147A>G | CA666584 | ALPL | c.692A>G (p.Lys231Arg) c.461A>G (p.Lys154Arg) c.527A>G (p.Lys176Arg) c.536A>G (p.Lys179Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568147A>T | CA338879161 | ALPL | c.692A>T (p.Lys231Ile) c.461A>T (p.Lys154Ile) c.527A>T (p.Lys176Ile) c.536A>T (p.Lys179Ile) | |
| 1 | g.21568148A>C | CA338879163 | ALPL | c.693A>C (p.Lys231Asn) c.462A>C (p.Lys154Asn) c.528A>C (p.Lys176Asn) c.537A>C (p.Lys179Asn) | COSMIC |
| 1 | g.21568148A>G | CA416529986 | ALPL | c.693A>G (p.Lys231=) c.462A>G (p.Lys154=) c.528A>G (p.Lys176=) c.537A>G (p.Lys179=) | |
| 1 | g.21568148A>T | CA338879164 | ALPL | c.693A>T (p.Lys231Asn) c.462A>T (p.Lys154Asn) c.528A>T (p.Lys176Asn) c.537A>T (p.Lys179Asn) | |
| 1 | g.21568149A>C | CA338879165 | ALPL | c.694A>C (p.Thr232Pro) c.463A>C (p.Thr155Pro) c.529A>C (p.Thr177Pro) c.538A>C (p.Thr180Pro) | |
| 1 | g.21568149A>G | CA338879166 | ALPL | c.694A>G (p.Thr232Ala) c.463A>G (p.Thr155Ala) c.529A>G (p.Thr177Ala) c.538A>G (p.Thr180Ala) | |
| 1 | g.21568149A>T | CA338879167 | ALPL | c.694A>T (p.Thr232Ser) c.463A>T (p.Thr155Ser) c.529A>T (p.Thr177Ser) c.538A>T (p.Thr180Ser) | |
| 1 | g.21568150C>A | CA338879168 | ALPL | c.695C>A (p.Thr232Asn) c.464C>A (p.Thr155Asn) c.530C>A (p.Thr177Asn) c.539C>A (p.Thr180Asn) | |
| 1 | g.21568150C>G | CA338879169 | ALPL | c.695C>G (p.Thr232Ser) c.464C>G (p.Thr155Ser) c.530C>G (p.Thr177Ser) c.539C>G (p.Thr180Ser) | |
| 1 | g.21568150C>T | CA338879170 | ALPL | c.695C>T (p.Thr232Ile) c.464C>T (p.Thr155Ile) c.530C>T (p.Thr177Ile) c.539C>T (p.Thr180Ile) | |
| 1 | g.21568151T>A | CA416529995 | ALPL | c.696T>A (p.Thr232=) c.465T>A (p.Thr155=) c.531T>A (p.Thr177=) c.540T>A (p.Thr180=) | |
| 1 | g.21568151T>C | CA416529993 | ALPL | c.696T>C (p.Thr232=) c.465T>C (p.Thr155=) c.531T>C (p.Thr177=) c.540T>C (p.Thr180=) | ClinVar COSMIC |
| 1 | g.21568151T>G | CA416529996 | ALPL | c.696T>G (p.Thr232=) c.465T>G (p.Thr155=) c.531T>G (p.Thr177=) c.540T>G (p.Thr180=) | |
| 1 | g.21568152G>A | CA338879171 | ALPL | c.697G>A (p.Asp233Asn) c.466G>A (p.Asp156Asn) c.532G>A (p.Asp178Asn) c.541G>A (p.Asp181Asn) | |
| 1 | g.21568152G>C | CA338879172 | ALPL | c.697G>C (p.Asp233His) c.466G>C (p.Asp156His) c.532G>C (p.Asp178His) c.541G>C (p.Asp181His) | |
| 1 | g.21568152G>T | CA338879173 | ALPL | c.697G>T (p.Asp233Tyr) c.466G>T (p.Asp156Tyr) c.532G>T (p.Asp178Tyr) c.541G>T (p.Asp181Tyr) | |
| 1 | g.21568153A>C | CA338879175 | ALPL | c.698A>C (p.Asp233Ala) c.467A>C (p.Asp156Ala) c.533A>C (p.Asp178Ala) c.542A>C (p.Asp181Ala) | |
| 1 | g.21568153A>G | CA338879176 | ALPL | c.698A>G (p.Asp233Gly) c.467A>G (p.Asp156Gly) c.533A>G (p.Asp178Gly) c.542A>G (p.Asp181Gly) | |
| 1 | g.21568153A>T | CA338879174 | ALPL | c.698A>T (p.Asp233Val) c.467A>T (p.Asp156Val) c.533A>T (p.Asp178Val) c.542A>T (p.Asp181Val) | |
| 1 | g.21568154T>A | CA338879177 | ALPL | c.699T>A (p.Asp233Glu) c.468T>A (p.Asp156Glu) c.534T>A (p.Asp178Glu) c.543T>A (p.Asp181Glu) | ClinVar |
| 1 | g.21568154T>C | CA416530003 | ALPL | c.699T>C (p.Asp233=) c.468T>C (p.Asp156=) c.534T>C (p.Asp178=) c.543T>C (p.Asp181=) | ClinVar gnomAD v4 |
| 1 | g.21568154T>G | CA338879178 | ALPL | c.699T>G (p.Asp233Glu) c.468T>G (p.Asp156Glu) c.534T>G (p.Asp178Glu) c.543T>G (p.Asp181Glu) | |
| 1 | g.21568155G>A | CA338879179 | ALPL | c.700G>A (p.Val234Met) c.469G>A (p.Val157Met) c.535G>A (p.Val179Met) c.544G>A (p.Val182Met) | gnomAD v4 |
| 1 | g.21568155G>C | CA338879180 | ALPL | c.700G>C (p.Val234Leu) c.469G>C (p.Val157Leu) c.535G>C (p.Val179Leu) c.544G>C (p.Val182Leu) | |
| 1 | g.21568155G>T | CA338879181 | ALPL | c.700G>T (p.Val234Leu) c.469G>T (p.Val157Leu) c.535G>T (p.Val179Leu) c.544G>T (p.Val182Leu) | |
| 1 | g.21568156T>A | CA338879182 | ALPL | c.701T>A (p.Val234Glu) c.470T>A (p.Val157Glu) c.536T>A (p.Val179Glu) c.545T>A (p.Val182Glu) | |
| 1 | g.21568156T>C | CA666585 | ALPL | c.701T>C (p.Val234Ala) c.470T>C (p.Val157Ala) c.536T>C (p.Val179Ala) c.545T>C (p.Val182Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568156T>G | CA338879183 | ALPL | c.701T>G (p.Val234Gly) c.470T>G (p.Val157Gly) c.536T>G (p.Val179Gly) c.545T>G (p.Val182Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568156T= | CA1158016148 | ALPL | c.701T= (p.Val234=) c.470T= (p.Val157=) c.536T= (p.Val179=) c.545T= (p.Val182=) | |
| 1 | g.21568157G>A | CA416530010 | ALPL | c.702G>A (p.Val234=) c.471G>A (p.Val157=) c.537G>A (p.Val179=) c.546G>A (p.Val182=) | ClinVar |
| 1 | g.21568157G>C | CA416530012 | ALPL | c.702G>C (p.Val234=) c.471G>C (p.Val157=) c.537G>C (p.Val179=) c.546G>C (p.Val182=) | |
| 1 | g.21568157G= | CA1148271915 | ALPL | c.702G= (p.Val234=) c.471G= (p.Val157=) c.537G= (p.Val179=) c.546G= (p.Val182=) | |
| 1 | g.21568157G>T | CA666586 | ALPL | c.702G>T (p.Val234=) c.471G>T (p.Val157=) c.537G>T (p.Val179=) c.546G>T (p.Val182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568158G>A | CA338879184 | ALPL | c.703G>A (p.Glu235Lys) c.472G>A (p.Glu158Lys) c.538G>A (p.Glu180Lys) c.547G>A (p.Glu183Lys) | |
| 1 | g.21568158G>C | CA338879185 | ALPL | c.703G>C (p.Glu235Gln) c.472G>C (p.Glu158Gln) c.538G>C (p.Glu180Gln) c.547G>C (p.Glu183Gln) | |
| 1 | g.21568158G>T | CA338879186 | ALPL | c.703G>T (p.Glu235Ter) c.472G>T (p.Glu158Ter) c.538G>T (p.Glu180Ter) c.547G>T (p.Glu183Ter) | |
| 1 | g.21568159A>C | CA338879188 | ALPL | c.704A>C (p.Glu235Ala) c.473A>C (p.Glu158Ala) c.539A>C (p.Glu180Ala) c.548A>C (p.Glu183Ala) | |
| 1 | g.21568159A>G | CA338879189 | ALPL | c.704A>G (p.Glu235Gly) c.473A>G (p.Glu158Gly) c.539A>G (p.Glu180Gly) c.548A>G (p.Glu183Gly) | gnomAD v4 COSMIC |
| 1 | g.21568159A>T | CA338879187 | ALPL | c.704A>T (p.Glu235Val) c.473A>T (p.Glu158Val) c.539A>T (p.Glu180Val) c.548A>T (p.Glu183Val) | |
| 1 | g.21568160G>A | CA416530019 | ALPL | c.705G>A (p.Glu235=) c.474G>A (p.Glu158=) c.540G>A (p.Glu180=) c.549G>A (p.Glu183=) | |
| 1 | g.21568160G>C | CA338879190 | ALPL | c.705G>C (p.Glu235Asp) c.474G>C (p.Glu158Asp) c.540G>C (p.Glu180Asp) c.549G>C (p.Glu183Asp) | |
| 1 | g.21568160G>T | CA338879191 | ALPL | c.705G>T (p.Glu235Asp) c.474G>T (p.Glu158Asp) c.540G>T (p.Glu180Asp) c.549G>T (p.Glu183Asp) | ClinVar dbSNP |
| 1 | g.21568161T>A | CA338879192 | ALPL | c.706T>A (p.Tyr236Asn) c.475T>A (p.Tyr159Asn) c.541T>A (p.Tyr181Asn) c.550T>A (p.Tyr184Asn) | |
| 1 | g.21568161T>C | CA666587 | ALPL | c.706T>C (p.Tyr236His) c.475T>C (p.Tyr159His) c.541T>C (p.Tyr181His) c.550T>C (p.Tyr184His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568161T>G | CA338879193 | ALPL | c.706T>G (p.Tyr236Asp) c.475T>G (p.Tyr159Asp) c.541T>G (p.Tyr181Asp) c.550T>G (p.Tyr184Asp) | |
| 1 | g.21568161T= | CA1158016149 | ALPL | c.706T= (p.Tyr236=) c.475T= (p.Tyr159=) c.541T= (p.Tyr181=) c.550T= (p.Tyr184=) | |
| 1 | g.21568162A= | CA1144744646 | ALPL | c.707A= (p.Tyr236=) c.476A= (p.Tyr159=) c.542A= (p.Tyr181=) c.551A= (p.Tyr184=) | |
| 1 | g.21568162A>C | CA338879195 | ALPL | c.707A>C (p.Tyr236Ser) c.476A>C (p.Tyr159Ser) c.542A>C (p.Tyr181Ser) c.551A>C (p.Tyr184Ser) | |
| 1 | g.21568162A>G | CA19063433 | ALPL | c.707A>G (p.Tyr236Cys) c.476A>G (p.Tyr159Cys) c.542A>G (p.Tyr181Cys) c.551A>G (p.Tyr184Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568162A>T | CA338879194 | ALPL | c.707A>T (p.Tyr236Phe) c.476A>T (p.Tyr159Phe) c.542A>T (p.Tyr181Phe) c.551A>T (p.Tyr184Phe) | |
| 1 | g.21568163T>A | CA338879196 | ALPL | c.708T>A (p.Tyr236Ter) c.477T>A (p.Tyr159Ter) c.543T>A (p.Tyr181Ter) c.552T>A (p.Tyr184Ter) | |
| 1 | g.21568163T>C | CA416530028 | ALPL | c.708T>C (p.Tyr236=) c.477T>C (p.Tyr159=) c.543T>C (p.Tyr181=) c.552T>C (p.Tyr184=) | ClinVar dbSNP |
| 1 | g.21568163T>G | CA338879197 | ALPL | c.708T>G (p.Tyr236Ter) c.477T>G (p.Tyr159Ter) c.543T>G (p.Tyr181Ter) c.552T>G (p.Tyr184Ter) | gnomAD v4 |
| 1 | g.21568164G>A | CA338879198 | ALPL | c.709G>A (p.Glu237Lys) c.478G>A (p.Glu160Lys) c.544G>A (p.Glu182Lys) c.553G>A (p.Glu185Lys) | |
| 1 | g.21568164G>C | CA338879199 | ALPL | c.709G>C (p.Glu237Gln) c.478G>C (p.Glu160Gln) c.544G>C (p.Glu182Gln) c.553G>C (p.Glu185Gln) | |
| 1 | g.21568164G>T | CA338879200 | ALPL | c.709G>T (p.Glu237Ter) c.478G>T (p.Glu160Ter) c.544G>T (p.Glu182Ter) c.553G>T (p.Glu185Ter) | |
| 1 | g.21568167_21568168del | CA2643930946 | ALPL | c.712_713del (p.Ser238Ter) c.481_482del (p.Ser161Ter) c.547_548del (p.Ser183Ter) c.556_557del (p.Ser186Ter) | gnomAD v4 |
| 1 | g.21568165A>C | CA338879203 | ALPL | c.710A>C (p.Glu237Ala) c.479A>C (p.Glu160Ala) c.545A>C (p.Glu182Ala) c.554A>C (p.Glu185Ala) | |
| 1 | g.21568165A>G | CA338879202 | ALPL | c.710A>G (p.Glu237Gly) c.479A>G (p.Glu160Gly) c.545A>G (p.Glu182Gly) c.554A>G (p.Glu185Gly) | |
| 1 | g.21568165A>T | CA338879201 | ALPL | c.710A>T (p.Glu237Val) c.479A>T (p.Glu160Val) c.545A>T (p.Glu182Val) c.554A>T (p.Glu185Val) | |
| 1 | g.21568166G>A | CA416530035 | ALPL | c.711G>A (p.Glu237=) c.480G>A (p.Glu160=) c.546G>A (p.Glu182=) c.555G>A (p.Glu185=) | |
| 1 | g.21568166G>C | CA338879204 | ALPL | c.711G>C (p.Glu237Asp) c.480G>C (p.Glu160Asp) c.546G>C (p.Glu182Asp) c.555G>C (p.Glu185Asp) | ClinVar |
| 1 | g.21568166G>T | CA338879205 | ALPL | c.711G>T (p.Glu237Asp) c.480G>T (p.Glu160Asp) c.546G>T (p.Glu182Asp) c.555G>T (p.Glu185Asp) | |
| 1 | g.21568167A>C | CA338879207 | ALPL | c.712A>C (p.Ser238Arg) c.481A>C (p.Ser161Arg) c.547A>C (p.Ser183Arg) c.556A>C (p.Ser186Arg) | gnomAD v4 |
| 1 | g.21568167A>G | CA338879211 | ALPL | c.712A>G (p.Ser238Gly) c.481A>G (p.Ser161Gly) c.547A>G (p.Ser183Gly) c.556A>G (p.Ser186Gly) | |
| 1 | g.21568167A>T | CA338879209 | ALPL | c.712A>T (p.Ser238Cys) c.481A>T (p.Ser161Cys) c.547A>T (p.Ser183Cys) c.556A>T (p.Ser186Cys) | |
| 1 | g.21568168G>A | CA19063436 | ALPL | c.713G>A (p.Ser238Asn) c.482G>A (p.Ser161Asn) c.548G>A (p.Ser183Asn) c.557G>A (p.Ser186Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568168G>C | CA338879212 | ALPL | c.713G>C (p.Ser238Thr) c.482G>C (p.Ser161Thr) c.548G>C (p.Ser183Thr) c.557G>C (p.Ser186Thr) | |
| 1 | g.21568168G= | CA1158016150 | ALPL | c.713G= (p.Ser238=) c.482G= (p.Ser161=) c.548G= (p.Ser183=) c.557G= (p.Ser186=) | |
| 1 | g.21568168G>T | CA338879214 | ALPL | c.713G>T (p.Ser238Ile) c.482G>T (p.Ser161Ile) c.548G>T (p.Ser183Ile) c.557G>T (p.Ser186Ile) | |
| 1 | g.21568169T>A | CA338879216 | ALPL | c.714T>A (p.Ser238Arg) c.483T>A (p.Ser161Arg) c.549T>A (p.Ser183Arg) c.558T>A (p.Ser186Arg) | |
| 1 | g.21568169T>C | CA416530056 | ALPL | c.714T>C (p.Ser238=) c.483T>C (p.Ser161=) c.549T>C (p.Ser183=) c.558T>C (p.Ser186=) | |
| 1 | g.21568169T>G | CA338879217 | ALPL | c.714T>G (p.Ser238Arg) c.483T>G (p.Ser161Arg) c.549T>G (p.Ser183Arg) c.558T>G (p.Ser186Arg) | |
| 1 | g.21568169_21568170delinsTG | CA1158016151 | ALPL | c.714_715delinsTG (p.Ser238=) c.483_484delinsTG (p.Ser161=) c.549_550delinsTG (p.Ser183=) c.558_559delinsTG (p.Ser186=) | |
| 1 | g.21568170del | CA916082004 | ALPL | c.715del (p.Asp239ThrfsTer?) c.484del (p.Asp162ThrfsTer?) c.550del (p.Asp184ThrfsTer?) c.559del (p.Asp187ThrfsTer?) | ClinVar dbSNP |
| 1 | g.21568170G>A | CA338879219 | ALPL | c.715G>A (p.Asp239Asn) c.484G>A (p.Asp162Asn) c.550G>A (p.Asp184Asn) c.559G>A (p.Asp187Asn) | COSMIC |
| 1 | g.21568170G>C | CA338879221 | ALPL | c.715G>C (p.Asp239His) c.484G>C (p.Asp162His) c.550G>C (p.Asp184His) c.559G>C (p.Asp187His) | |
| 1 | g.21568170G= | CA1158016152 | ALPL | c.715G= (p.Asp239=) c.484G= (p.Asp162=) c.550G= (p.Asp184=) c.559G= (p.Asp187=) | |
| 1 | g.21568170G>T | CA338879222 | ALPL | c.715G>T (p.Asp239Tyr) c.484G>T (p.Asp162Tyr) c.550G>T (p.Asp184Tyr) c.559G>T (p.Asp187Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568171A>C | CA338879224 | ALPL | c.716A>C (p.Asp239Ala) c.485A>C (p.Asp162Ala) c.551A>C (p.Asp184Ala) c.560A>C (p.Asp187Ala) | |
| 1 | g.21568171A>G | CA338879226 | ALPL | c.716A>G (p.Asp239Gly) c.485A>G (p.Asp162Gly) c.551A>G (p.Asp184Gly) c.560A>G (p.Asp187Gly) | ClinVar |
| 1 | g.21568171A>T | CA338879228 | ALPL | c.716A>T (p.Asp239Val) c.485A>T (p.Asp162Val) c.551A>T (p.Asp184Val) c.560A>T (p.Asp187Val) | |
| 1 | g.21568171_21568174delinsTAATGT | CA2580061443 | ALPL | c.716_719delinsTAATGT (p.Asp239ValfsTer3) c.485_488delinsTAATGT (p.Asp162ValfsTer3) c.551_554delinsTAATGT (p.Asp184ValfsTer3) c.560_563delinsTAATGT (p.Asp187ValfsTer3) | ClinVar |
| 1 | g.21568172C>A | CA338879232 | ALPL | c.717C>A (p.Asp239Glu) c.486C>A (p.Asp162Glu) c.552C>A (p.Asp184Glu) c.561C>A (p.Asp187Glu) | ClinVar gnomAD v4 |
| 1 | g.21568172C= | CA1158016153 | ALPL | c.717C= (p.Asp239=) c.486C= (p.Asp162=) c.552C= (p.Asp184=) c.561C= (p.Asp187=) | |
| 1 | g.21568172C>G | CA338879230 | ALPL | c.717C>G (p.Asp239Glu) c.486C>G (p.Asp162Glu) c.552C>G (p.Asp184Glu) c.561C>G (p.Asp187Glu) | |
| 1 | g.21568172C>T | CA666588 | ALPL | c.717C>T (p.Asp239=) c.486C>T (p.Asp162=) c.552C>T (p.Asp184=) c.561C>T (p.Asp187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568173G>A | CA338879234 | ALPL | c.718G>A (p.Glu240Lys) c.487G>A (p.Glu163Lys) c.553G>A (p.Glu185Lys) c.562G>A (p.Glu188Lys) | dbSNP gnomAD v4 |
| 1 | g.21568173G>C | CA338879236 | ALPL | c.718G>C (p.Glu240Gln) c.487G>C (p.Glu163Gln) c.553G>C (p.Glu185Gln) c.562G>C (p.Glu188Gln) | |
| 1 | g.21568173G= | CA1158016154 | ALPL | c.718G= (p.Glu240=) c.487G= (p.Glu163=) c.553G= (p.Glu185=) c.562G= (p.Glu188=) | |
| 1 | g.21568173G>T | CA338879237 | ALPL | c.718G>T (p.Glu240Ter) c.487G>T (p.Glu163Ter) c.553G>T (p.Glu185Ter) c.562G>T (p.Glu188Ter) | |
| 1 | g.21568174A>C | CA338879239 | ALPL | c.719A>C (p.Glu240Ala) c.488A>C (p.Glu163Ala) c.554A>C (p.Glu185Ala) c.563A>C (p.Glu188Ala) | |
| 1 | g.21568174A>G | CA338879240 | ALPL | c.719A>G (p.Glu240Gly) c.488A>G (p.Glu163Gly) c.554A>G (p.Glu185Gly) c.563A>G (p.Glu188Gly) | |
| 1 | g.21568174A>T | CA338879241 | ALPL | c.719A>T (p.Glu240Val) c.488A>T (p.Glu163Val) c.554A>T (p.Glu185Val) c.563A>T (p.Glu188Val) | |
| 1 | g.21568175G>A | CA416530071 | ALPL | c.720G>A (p.Glu240=) c.489G>A (p.Glu163=) c.555G>A (p.Glu185=) c.564G>A (p.Glu188=) | |
| 1 | g.21568175G>C | CA338879243 | ALPL | c.720G>C (p.Glu240Asp) c.489G>C (p.Glu163Asp) c.555G>C (p.Glu185Asp) c.564G>C (p.Glu188Asp) | |
| 1 | g.21568175G>T | CA338879245 | ALPL | c.720G>T (p.Glu240Asp) c.489G>T (p.Glu163Asp) c.555G>T (p.Glu185Asp) c.564G>T (p.Glu188Asp) | |
| 1 | g.21568176A>C | CA338879247 | ALPL | c.721A>C (p.Lys241Gln) c.490A>C (p.Lys164Gln) c.556A>C (p.Lys186Gln) c.565A>C (p.Lys189Gln) | |
| 1 | g.21568176A>G | CA338879249 | ALPL | c.721A>G (p.Lys241Glu) c.490A>G (p.Lys164Glu) c.556A>G (p.Lys186Glu) c.565A>G (p.Lys189Glu) | gnomAD v4 |
| 1 | g.21568176A>T | CA338879250 | ALPL | c.721A>T (p.Lys241Ter) c.490A>T (p.Lys164Ter) c.556A>T (p.Lys186Ter) c.565A>T (p.Lys189Ter) | |
| 1 | g.21568177A= | CA1158016155 | ALPL | c.722A= (p.Lys241=) c.491A= (p.Lys164=) c.557A= (p.Lys186=) c.566A= (p.Lys189=) | |
| 1 | g.21568177A>C | CA338879255 | ALPL | c.722A>C (p.Lys241Thr) c.491A>C (p.Lys164Thr) c.557A>C (p.Lys186Thr) c.566A>C (p.Lys189Thr) | |
| 1 | g.21568177A>G | CA338879253 | ALPL | c.722A>G (p.Lys241Arg) c.491A>G (p.Lys164Arg) c.557A>G (p.Lys186Arg) c.566A>G (p.Lys189Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568177A>T | CA338879252 | ALPL | c.722A>T (p.Lys241Ile) c.491A>T (p.Lys164Ile) c.557A>T (p.Lys186Ile) c.566A>T (p.Lys189Ile) | |
| 1 | g.21568178A>C | CA338879257 | ALPL | c.723A>C (p.Lys241Asn) c.492A>C (p.Lys164Asn) c.558A>C (p.Lys186Asn) c.567A>C (p.Lys189Asn) | |
| 1 | g.21568178A>G | CA416530078 | ALPL | c.723A>G (p.Lys241=) c.492A>G (p.Lys164=) c.558A>G (p.Lys186=) c.567A>G (p.Lys189=) | |
| 1 | g.21568178A>T | CA338879259 | ALPL | c.723A>T (p.Lys241Asn) c.492A>T (p.Lys164Asn) c.558A>T (p.Lys186Asn) c.567A>T (p.Lys189Asn) | |
| 1 | g.21568179G>A | CA338879260 | ALPL | c.724G>A (p.Ala242Thr) c.493G>A (p.Ala165Thr) c.559G>A (p.Ala187Thr) c.568G>A (p.Ala190Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.21568179G>C | CA338879262 | ALPL | c.724G>C (p.Ala242Pro) c.493G>C (p.Ala165Pro) c.559G>C (p.Ala187Pro) c.568G>C (p.Ala190Pro) | |
| 1 | g.21568179G= | CA1158016156 | ALPL | c.724G= (p.Ala242=) c.493G= (p.Ala165=) c.559G= (p.Ala187=) c.568G= (p.Ala190=) | |
| 1 | g.21568179G>T | CA338879264 | ALPL | c.724G>T (p.Ala242Ser) c.493G>T (p.Ala165Ser) c.559G>T (p.Ala187Ser) c.568G>T (p.Ala190Ser) | |
| 1 | g.21568180C>A | CA338879265 | ALPL | c.725C>A (p.Ala242Asp) c.494C>A (p.Ala165Asp) c.560C>A (p.Ala187Asp) c.569C>A (p.Ala190Asp) | |
| 1 | g.21568180C>G | CA338879267 | ALPL | c.725C>G (p.Ala242Gly) c.494C>G (p.Ala165Gly) c.560C>G (p.Ala187Gly) c.569C>G (p.Ala190Gly) | |
| 1 | g.21568180C>T | CA338879268 | ALPL | c.725C>T (p.Ala242Val) c.494C>T (p.Ala165Val) c.560C>T (p.Ala187Val) c.569C>T (p.Ala190Val) | |
| 1 | g.21568181del | CA2643930951 | ALPL | c.726del (p.Arg243GlyfsTer?) c.495del (p.Arg166GlyfsTer?) c.561del (p.Arg188GlyfsTer?) c.570del (p.Arg191GlyfsTer?) | gnomAD v4 |
| 1 | g.21568181C>A | CA416530089 | ALPL | c.726C>A (p.Ala242=) c.495C>A (p.Ala165=) c.561C>A (p.Ala187=) c.570C>A (p.Ala190=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568181C= | CA1158016157 | ALPL | c.726C= (p.Ala242=) c.495C= (p.Ala165=) c.561C= (p.Ala187=) c.570C= (p.Ala190=) | |
| 1 | g.21568181C>G | CA416530082 | ALPL | c.726C>G (p.Ala242=) c.495C>G (p.Ala165=) c.561C>G (p.Ala187=) c.570C>G (p.Ala190=) | |
| 1 | g.21568181C>T | CA416530085 | ALPL | c.726C>T (p.Ala242=) c.495C>T (p.Ala165=) c.561C>T (p.Ala187=) c.570C>T (p.Ala190=) | |
| 1 | g.21568182A= | CA1148464546 | ALPL | c.727A= (p.Arg243=) c.496A= (p.Arg166=) c.562A= (p.Arg188=) c.571A= (p.Arg191=) | |
| 1 | g.21568182A>C | CA666589 | ALPL | c.727A>C (p.Arg243=) c.496A>C (p.Arg166=) c.562A>C (p.Arg188=) c.571A>C (p.Arg191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.21568182A>G | CA338879271 | ALPL | c.727A>G (p.Arg243Gly) c.496A>G (p.Arg166Gly) c.562A>G (p.Arg188Gly) c.571A>G (p.Arg191Gly) | |
| 1 | g.21568182A>T | CA338879272 | ALPL | c.727A>T (p.Arg243Trp) c.496A>T (p.Arg166Trp) c.562A>T (p.Arg188Trp) c.571A>T (p.Arg191Trp) | |
| 1 | g.21568183G>A | CA338879274 | ALPL | c.728G>A (p.Arg243Lys) c.497G>A (p.Arg166Lys) c.563G>A (p.Arg188Lys) c.572G>A (p.Arg191Lys) | |
| 1 | g.21568183G>C | CA338879276 | ALPL | c.728G>C (p.Arg243Thr) c.497G>C (p.Arg166Thr) c.563G>C (p.Arg188Thr) c.572G>C (p.Arg191Thr) | |
| 1 | g.21568183G>T | CA338879278 | ALPL | c.728G>T (p.Arg243Met) c.497G>T (p.Arg166Met) c.563G>T (p.Arg188Met) c.572G>T (p.Arg191Met) | |
| 1 | g.21568184G>A | CA416530099 | ALPL | c.729G>A (p.Arg243=) c.498G>A (p.Arg166=) c.564G>A (p.Arg188=) c.573G>A (p.Arg191=) | |
| 1 | g.21568184G>C | CA338879279 | ALPL | c.729G>C (p.Arg243Ser) c.498G>C (p.Arg166Ser) c.564G>C (p.Arg188Ser) c.573G>C (p.Arg191Ser) | |
| 1 | g.21568184G>T | CA338879280 | ALPL | c.729G>T (p.Arg243Ser) c.498G>T (p.Arg166Ser) c.564G>T (p.Arg188Ser) c.573G>T (p.Arg191Ser) | |
| 1 | g.21568185G>A | CA338879282 | ALPL | c.730G>A (p.Gly244Ser) c.499G>A (p.Gly167Ser) c.565G>A (p.Gly189Ser) c.574G>A (p.Gly192Ser) | |
| 1 | g.21568185G>C | CA338879284 | ALPL | c.730G>C (p.Gly244Arg) c.499G>C (p.Gly167Arg) c.565G>C (p.Gly189Arg) c.574G>C (p.Gly192Arg) | |
| 1 | g.21568185G>T | CA338879286 | ALPL | c.730G>T (p.Gly244Cys) c.499G>T (p.Gly167Cys) c.565G>T (p.Gly189Cys) c.574G>T (p.Gly192Cys) | |
| 1 | g.21568186G>A | CA338879287 | ALPL | c.731G>A (p.Gly244Asp) c.500G>A (p.Gly167Asp) c.566G>A (p.Gly189Asp) c.575G>A (p.Gly192Asp) | |
| 1 | g.21568186G>C | CA338879289 | ALPL | c.731G>C (p.Gly244Ala) c.500G>C (p.Gly167Ala) c.566G>C (p.Gly189Ala) c.575G>C (p.Gly192Ala) | |
| 1 | g.21568186G>T | CA338879291 | ALPL | c.731G>T (p.Gly244Val) c.500G>T (p.Gly167Val) c.566G>T (p.Gly189Val) c.575G>T (p.Gly192Val) | |
| 1 | g.21568187C>A | CA416530108 | ALPL | c.732C>A (p.Gly244=) c.501C>A (p.Gly167=) c.567C>A (p.Gly189=) c.576C>A (p.Gly192=) | |
| 1 | g.21568187C>G | CA416530109 | ALPL | c.732C>G (p.Gly244=) c.501C>G (p.Gly167=) c.567C>G (p.Gly189=) c.576C>G (p.Gly192=) | |
| 1 | g.21568187C>T | CA416530110 | ALPL | c.732C>T (p.Gly244=) c.501C>T (p.Gly167=) c.567C>T (p.Gly189=) c.576C>T (p.Gly192=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.21568188A>C | CA338879293 | ALPL | c.733A>C (p.Thr245Pro) c.502A>C (p.Thr168Pro) c.568A>C (p.Thr190Pro) c.577A>C (p.Thr193Pro) | |
| 1 | g.21568188A>G | CA338879294 | ALPL | c.733A>G (p.Thr245Ala) c.502A>G (p.Thr168Ala) c.568A>G (p.Thr190Ala) c.577A>G (p.Thr193Ala) | |
| 1 | g.21568188A>T | CA338879296 | ALPL | c.733A>T (p.Thr245Ser) c.502A>T (p.Thr168Ser) c.568A>T (p.Thr190Ser) c.577A>T (p.Thr193Ser) | |
| 1 | g.21568189C>A | CA338879298 | ALPL | c.734C>A (p.Thr245Lys) c.503C>A (p.Thr168Lys) c.569C>A (p.Thr190Lys) c.578C>A (p.Thr193Lys) | |
| 1 | g.21568189C= | CA1141877356 | ALPL | c.734C= (p.Thr245=) c.503C= (p.Thr168=) c.569C= (p.Thr190=) c.578C= (p.Thr193=) | |
| 1 | g.21568189C>G | CA338879300 | ALPL | c.734C>G (p.Thr245Arg) c.503C>G (p.Thr168Arg) c.569C>G (p.Thr190Arg) c.578C>G (p.Thr193Arg) | gnomAD v4 |
| 1 | g.21568189C>T | CA666590 | ALPL | c.734C>T (p.Thr245Met) c.503C>T (p.Thr168Met) c.569C>T (p.Thr190Met) c.578C>T (p.Thr193Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568190G>A | CA666591 | ALPL | c.735G>A (p.Thr245=) c.504G>A (p.Thr168=) c.570G>A (p.Thr190=) c.579G>A (p.Thr193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.21568190G>C | CA416530119 | ALPL | c.735G>C (p.Thr245=) c.504G>C (p.Thr168=) c.570G>C (p.Thr190=) c.579G>C (p.Thr193=) | |
| 1 | g.21568190G= | CA1158016158 | ALPL | c.735G= (p.Thr245=) c.504G= (p.Thr168=) c.570G= (p.Thr190=) c.579G= (p.Thr193=) | |
| 1 | g.21568190G>T | CA416530120 | ALPL | c.735G>T (p.Thr245=) c.504G>T (p.Thr168=) c.570G>T (p.Thr190=) c.579G>T (p.Thr193=) | |
| 1 | g.21568191A>C | CA416530123 | ALPL | c.736A>C (p.Arg246=) c.505A>C (p.Arg169=) c.571A>C (p.Arg191=) c.580A>C (p.Arg194=) | |
| 1 | g.21568191A>G | CA338879304 | ALPL | c.736A>G (p.Arg246Gly) c.505A>G (p.Arg169Gly) c.571A>G (p.Arg191Gly) c.580A>G (p.Arg194Gly) | |
| 1 | g.21568191A>T | CA338879303 | ALPL | c.736A>T (p.Arg246Trp) c.505A>T (p.Arg169Trp) c.571A>T (p.Arg191Trp) c.580A>T (p.Arg194Trp) | |
| 1 | g.21568192G>A | CA338879308 | ALPL | c.737G>A (p.Arg246Lys) c.506G>A (p.Arg169Lys) c.572G>A (p.Arg191Lys) c.581G>A (p.Arg194Lys) | |
| 1 | g.21568192G>C | CA338879306 | ALPL | c.737G>C (p.Arg246Thr) c.506G>C (p.Arg169Thr) c.572G>C (p.Arg191Thr) c.581G>C (p.Arg194Thr) | |
| 1 | g.21568192G>T | CA338879307 | ALPL | c.737G>T (p.Arg246Met) c.506G>T (p.Arg169Met) c.572G>T (p.Arg191Met) c.581G>T (p.Arg194Met) | |
| 1 | g.21568193G>A | CA416530128 | ALPL | c.738G>A (p.Arg246=) c.507G>A (p.Arg169=) c.573G>A (p.Arg191=) c.582G>A (p.Arg194=) | gnomAD v4 |
| 1 | g.21568193G>C | CA338879310 | ALPL | c.738G>C (p.Arg246Ser) c.507G>C (p.Arg169Ser) c.573G>C (p.Arg191Ser) c.582G>C (p.Arg194Ser) | |
| 1 | g.21568193G= | CA1158016159 | ALPL | c.738G= (p.Arg246=) c.507G= (p.Arg169=) c.573G= (p.Arg191=) c.582G= (p.Arg194=) | |
| 1 | g.21568193G>T | CA338879311 | ALPL | c.738G>T (p.Arg246Ser) c.507G>T (p.Arg169Ser) c.573G>T (p.Arg191Ser) c.582G>T (p.Arg194Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21568194C>A | CA338879314 | ALPL | c.739C>A (p.Leu247Met) c.508C>A (p.Leu170Met) c.574C>A (p.Leu192Met) c.583C>A (p.Leu195Met) | |
| 1 | g.21568194C>G | CA338879315 | ALPL | c.739C>G (p.Leu247Val) c.508C>G (p.Leu170Val) c.574C>G (p.Leu192Val) c.583C>G (p.Leu195Val) | |
| 1 | g.21568194C>T | CA416530132 | ALPL | c.739C>T (p.Leu247=) c.508C>T (p.Leu170=) c.574C>T (p.Leu192=) c.583C>T (p.Leu195=) | gnomAD v4 |
| 1 | g.21568195T>A | CA338879317 | ALPL | c.740T>A (p.Leu247Gln) c.509T>A (p.Leu170Gln) c.575T>A (p.Leu192Gln) c.584T>A (p.Leu195Gln) | |
| 1 | g.21568195T>C | CA338879318 | ALPL | c.740T>C (p.Leu247Pro) c.509T>C (p.Leu170Pro) c.575T>C (p.Leu192Pro) c.584T>C (p.Leu195Pro) | |
| 1 | g.21568195T>G | CA338879320 | ALPL | c.740T>G (p.Leu247Arg) c.509T>G (p.Leu170Arg) c.575T>G (p.Leu192Arg) c.584T>G (p.Leu195Arg) | |
| 1 | g.21568196G>A | CA416530137 | ALPL | c.741G>A (p.Leu247=) c.510G>A (p.Leu170=) c.576G>A (p.Leu192=) c.585G>A (p.Leu195=) | ClinVar dbSNP |
| 1 | g.21568196G>C | CA416530139 | ALPL | c.741G>C (p.Leu247=) c.510G>C (p.Leu170=) c.576G>C (p.Leu192=) c.585G>C (p.Leu195=) | |
| 1 | g.21568196G>T | CA416530140 | ALPL | c.741G>T (p.Leu247=) c.510G>T (p.Leu170=) c.576G>T (p.Leu192=) c.585G>T (p.Leu195=) | |
| 1 | g.21568197G>A | CA338879322 | ALPL | c.742G>A (p.Asp248Asn) c.511G>A (p.Asp171Asn) c.577G>A (p.Asp193Asn) c.586G>A (p.Asp196Asn) | |
| 1 | g.21568197G>C | CA338879323 | ALPL | c.742G>C (p.Asp248His) c.511G>C (p.Asp171His) c.577G>C (p.Asp193His) c.586G>C (p.Asp196His) | |
| 1 | g.21568197G>T | CA338879325 | ALPL | c.742G>T (p.Asp248Tyr) c.511G>T (p.Asp171Tyr) c.577G>T (p.Asp193Tyr) c.586G>T (p.Asp196Tyr) | |
| 1 | g.21568198A>C | CA338879330 | ALPL | c.743A>C (p.Asp248Ala) c.512A>C (p.Asp171Ala) c.578A>C (p.Asp193Ala) c.587A>C (p.Asp196Ala) | |
| 1 | g.21568198A>G | CA338879327 | ALPL | c.743A>G (p.Asp248Gly) c.512A>G (p.Asp171Gly) c.578A>G (p.Asp193Gly) c.587A>G (p.Asp196Gly) | |
| 1 | g.21568198A>T | CA338879329 | ALPL | c.743A>T (p.Asp248Val) c.512A>T (p.Asp171Val) c.578A>T (p.Asp193Val) c.587A>T (p.Asp196Val) | |
| 1 | g.21568199C>A | CA338879332 | ALPL | c.744C>A (p.Asp248Glu) c.513C>A (p.Asp171Glu) c.579C>A (p.Asp193Glu) c.588C>A (p.Asp196Glu) | |
| 1 | g.21568199C= | CA1143013221 | ALPL | c.744C= (p.Asp248=) c.513C= (p.Asp171=) c.579C= (p.Asp193=) c.588C= (p.Asp196=) | |
| 1 | g.21568199C>G | CA338879334 | ALPL | c.744C>G (p.Asp248Glu) c.513C>G (p.Asp171Glu) c.579C>G (p.Asp193Glu) c.588C>G (p.Asp196Glu) | |
| 1 | g.21568199C>T | CA666592 | ALPL | c.744C>T (p.Asp248=) c.513C>T (p.Asp171=) c.579C>T (p.Asp193=) c.588C>T (p.Asp196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568200G>A | CA666593 | ALPL | c.745G>A (p.Gly249Ser) c.514G>A (p.Gly172Ser) c.580G>A (p.Gly194Ser) c.589G>A (p.Gly197Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568200G>C | CA338879337 | ALPL | c.745G>C (p.Gly249Arg) c.514G>C (p.Gly172Arg) c.580G>C (p.Gly194Arg) c.589G>C (p.Gly197Arg) | |
| 1 | g.21568200G= | CA1158016160 | ALPL | c.745G= (p.Gly249=) c.514G= (p.Gly172=) c.580G= (p.Gly194=) c.589G= (p.Gly197=) | |
| 1 | g.21568200G>T | CA338879339 | ALPL | c.745G>T (p.Gly249Cys) c.514G>T (p.Gly172Cys) c.580G>T (p.Gly194Cys) c.589G>T (p.Gly197Cys) | gnomAD v4 |
| 1 | g.21568201G>A | CA338879341 | ALPL | c.746G>A (p.Gly249Asp) c.515G>A (p.Gly172Asp) c.581G>A (p.Gly194Asp) c.590G>A (p.Gly197Asp) | |
| 1 | g.21568201G>C | CA666594 | ALPL | c.746G>C (p.Gly249Ala) c.515G>C (p.Gly172Ala) c.581G>C (p.Gly194Ala) c.590G>C (p.Gly197Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21568201G= | CA1141580641 | ALPL | c.746G= (p.Gly249=) c.515G= (p.Gly172=) c.581G= (p.Gly194=) c.590G= (p.Gly197=) | |
| 1 | g.21568201G>T | CA123350 | ALPL | c.746G>T (p.Gly249Val) c.515G>T (p.Gly172Val) c.581G>T (p.Gly194Val) c.590G>T (p.Gly197Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |