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 |
|---|---|---|---|---|---|
| 6 | g.131860387_131860388delinsAA | CA645550959 | ENPP1 | c.796_797delinsAA (p.Gly266Lys) c.413_414delinsAA c.287_288delinsAA | COSMIC |
| 6 | g.131860388G>A | CA365667444 | ENPP1 | c.797G>A (p.Gly266Glu) c.414G>A c.288G>A | |
| 6 | g.131860388G>C | CA365667448 | ENPP1 | c.797G>C (p.Gly266Ala) c.414G>C c.288G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131860388G= | CA1664259047 | ENPP1 | c.797G= (p.Gly266=) c.414G= c.288G= | |
| 6 | g.131860388G>T | CA123290 | ENPP1 | c.797G>T (p.Gly266Val) c.414G>T c.288G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131860389A>C | CA452155332 | ENPP1 | c.798A>C (p.Gly266=) c.415A>C c.289A>C | |
| 6 | g.131860389A>G | CA452155333 | ENPP1 | c.798A>G (p.Gly266=) c.415A>G c.289A>G | |
| 6 | g.131860389A>T | CA452155330 | ENPP1 | c.798A>T (p.Gly266=) c.415A>T c.289A>T | |
| 6 | g.131860390T>A | CA365667454 | ENPP1 | c.799T>A (p.Leu267Met) c.416T>A c.290T>A | |
| 6 | g.131860390T>C | CA452155335 | ENPP1 | c.799T>C (p.Leu267=) c.416T>C c.290T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131860390T>G | CA365667457 | ENPP1 | c.799T>G (p.Leu267Val) c.416T>G c.290T>G | COSMIC COSMIC |
| 6 | g.131860390T= | CA1664259053 | ENPP1 | c.799T= (p.Leu267=) c.416T= c.290T= | |
| 6 | g.131860391T>A | CA365667460 | ENPP1 | c.800T>A (p.Leu267Ter) c.417T>A c.291T>A | |
| 6 | g.131860391T>C | CA365667467 | ENPP1 | c.800T>C (p.Leu267Ser) c.417T>C c.291T>C | |
| 6 | g.131860391T>G | CA365667469 | ENPP1 | c.800T>G (p.Leu267Trp) c.417T>G c.291T>G | |
| 6 | g.131860392G>A | CA452155342 | ENPP1 | c.801G>A (p.Leu267=) c.418G>A c.292G>A | gnomAD v3 gnomAD v4 |
| 6 | g.131860392G>C | CA365667475 | ENPP1 | c.801G>C (p.Leu267Phe) c.418G>C c.292G>C | |
| 6 | g.131860392G>T | CA365667484 | ENPP1 | c.801G>T (p.Leu267Phe) c.418G>T c.292G>T | |
| 6 | g.131860393T>A | CA365667489 | ENPP1 | c.802T>A (p.Tyr268Asn) c.419T>A c.293T>A | |
| 6 | g.131860393T>C | CA4002014 | ENPP1 | c.802T>C (p.Tyr268His) c.419T>C c.293T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860393T>G | CA365667496 | ENPP1 | c.802T>G (p.Tyr268Asp) c.419T>G c.293T>G | |
| 6 | g.131860393T= | CA1664259057 | ENPP1 | c.802T= (p.Tyr268=) c.419T= c.293T= | |
| 6 | g.131860394A= | CA1664259061 | ENPP1 | c.803A= (p.Tyr268=) c.420A= c.294A= | |
| 6 | g.131860394A>C | CA365667502 | ENPP1 | c.803A>C (p.Tyr268Ser) c.420A>C c.294A>C | |
| 6 | g.131860394A>G | CA365667506 | ENPP1 | c.803A>G (p.Tyr268Cys) c.420A>G c.294A>G | gnomAD v4 |
| 6 | g.131860394A>T | CA365667510 | ENPP1 | c.803A>T (p.Tyr268Phe) c.420A>T c.294A>T | dbSNP gnomAD v4 |
| 6 | g.131860395T>A | CA365667518 | ENPP1 | c.804T>A (p.Tyr268Ter) c.421T>A c.295T>A | |
| 6 | g.131860395T>C | CA452155347 | ENPP1 | c.804T>C (p.Tyr268=) c.421T>C c.295T>C | |
| 6 | g.131860395T>G | CA365667515 | ENPP1 | c.804T>G (p.Tyr268Ter) c.421T>G c.295T>G | |
| 6 | g.131860396C>A | CA365667521 | ENPP1 | c.805C>A (p.Pro269Thr) c.422C>A c.296C>A | gnomAD v4 |
| 6 | g.131860396C>G | CA365667522 | ENPP1 | c.805C>G (p.Pro269Ala) c.422C>G c.296C>G | gnomAD v4 |
| 6 | g.131860396C>T | CA365667526 | ENPP1 | c.805C>T (p.Pro269Ser) c.422C>T c.296C>T | |
| 6 | g.131860397C>A | CA365667532 | ENPP1 | c.806C>A (p.Pro269Gln) c.423C>A c.297C>A | |
| 6 | g.131860397C>G | CA365667536 | ENPP1 | c.806C>G (p.Pro269Arg) c.423C>G c.297C>G | |
| 6 | g.131860397C>T | CA365667539 | ENPP1 | c.806C>T (p.Pro269Leu) c.423C>T c.297C>T | |
| 6 | g.131860398A>C | CA452155352 | ENPP1 | c.807A>C (p.Pro269=) c.424A>C c.298A>C | |
| 6 | g.131860398A>G | CA452155353 | ENPP1 | c.807A>G (p.Pro269=) c.424A>G c.298A>G | |
| 6 | g.131860398A>T | CA452155355 | ENPP1 | c.807A>T (p.Pro269=) c.424A>T c.298A>T | |
| 6 | g.131860399G>A | CA365667544 | ENPP1 | c.808G>A (p.Glu270Lys) c.425G>A c.299G>A | |
| 6 | g.131860399G>C | CA365667550 | ENPP1 | c.808G>C (p.Glu270Gln) c.425G>C c.299G>C | |
| 6 | g.131860399G>T | CA365667548 | ENPP1 | c.808G>T (p.Glu270Ter) c.425G>T c.299G>T | |
| 6 | g.131860400A>C | CA365667555 | ENPP1 | c.809A>C (p.Glu270Ala) c.426A>C c.300A>C | |
| 6 | g.131860400A>G | CA365667556 | ENPP1 | c.809A>G (p.Glu270Gly) c.426A>G c.300A>G | |
| 6 | g.131860400A>T | CA365667557 | ENPP1 | c.809A>T (p.Glu270Val) c.426A>T c.300A>T | |
| 6 | g.131860401A>C | CA365667558 | ENPP1 | c.810A>C (p.Glu270Asp) c.427A>C c.301A>C | |
| 6 | g.131860401A>G | CA452155359 | ENPP1 | c.810A>G (p.Glu270=) c.427A>G c.301A>G | |
| 6 | g.131860401A>T | CA365667561 | ENPP1 | c.810A>T (p.Glu270Asp) c.427A>T c.301A>T | |
| 6 | g.131860402T>A | CA365667564 | ENPP1 | c.811T>A (p.Ser271Thr) c.428T>A c.302T>A | |
| 6 | g.131860402T>C | CA365667565 | ENPP1 | c.811T>C (p.Ser271Pro) c.428T>C c.302T>C | |
| 6 | g.131860402T>G | CA365667566 | ENPP1 | c.811T>G (p.Ser271Ala) c.428T>G c.302T>G | |
| 6 | g.131860403C>A | CA365667567 | ENPP1 | c.812C>A (p.Ser271Tyr) c.429C>A c.303C>A | gnomAD v4 |
| 6 | g.131860403C>G | CA365667570 | ENPP1 | c.812C>G (p.Ser271Cys) c.429C>G c.303C>G | |
| 6 | g.131860403C>T | CA365667572 | ENPP1 | c.812C>T (p.Ser271Phe) c.429C>T c.303C>T | |
| 6 | g.131860404T>A | CA452155365 | ENPP1 | c.813T>A (p.Ser271=) c.430T>A c.304T>A | |
| 6 | g.131860404T>C | CA452155367 | ENPP1 | c.813T>C (p.Ser271=) c.430T>C c.304T>C | |
| 6 | g.131860404T>G | CA452155368 | ENPP1 | c.813T>G (p.Ser271=) c.430T>G c.304T>G | |
| 6 | g.131860405C>A | CA365667576 | ENPP1 | c.814C>A (p.His272Asn) c.431C>A c.305C>A | gnomAD v4 |
| 6 | g.131860405C= | CA1664259064 | ENPP1 | c.814C= (p.His272=) c.431C= c.305C= | |
| 6 | g.131860405C>G | CA365667575 | ENPP1 | c.814C>G (p.His272Asp) c.431C>G c.305C>G | |
| 6 | g.131860405C>T | CA4002015 | ENPP1 | c.814C>T (p.His272Tyr) c.431C>T c.305C>T | dbSNP ExAC gnomAD v2 |
| 6 | g.131860406A= | CA1664259066 | ENPP1 | c.815A= (p.His272=) c.432A= c.306A= | |
| 6 | g.131860406A>C | CA365667584 | ENPP1 | c.815A>C (p.His272Pro) c.432A>C c.306A>C | gnomAD v4 |
| 6 | g.131860406A>G | CA4002016 | ENPP1 | c.815A>G (p.His272Arg) c.432A>G c.306A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860406A>T | CA365667589 | ENPP1 | c.815A>T (p.His272Leu) c.432A>T c.306A>T | gnomAD v4 |
| 6 | g.131860407T>A | CA365667594 | ENPP1 | c.816T>A (p.His272Gln) c.433T>A c.307T>A | |
| 6 | g.131860407T>C | CA452155370 | ENPP1 | c.816T>C (p.His272=) c.433T>C c.307T>C | |
| 6 | g.131860407T>G | CA365667598 | ENPP1 | c.816T>G (p.His272Gln) c.433T>G c.307T>G | |
| 6 | g.131860408G>A | CA365667603 | ENPP1 | c.817G>A (p.Gly273Ser) c.434G>A c.308G>A | |
| 6 | g.131860408G>C | CA365667605 | ENPP1 | c.817G>C (p.Gly273Arg) c.434G>C c.308G>C | |
| 6 | g.131860408G>T | CA365667627 | ENPP1 | c.817G>T (p.Gly273Cys) c.434G>T c.308G>T | |
| 6 | g.131860409G>A | CA365667633 | ENPP1 | c.818G>A (p.Gly273Asp) c.435G>A c.309G>A | |
| 6 | g.131860409G>C | CA365667640 | ENPP1 | c.818G>C (p.Gly273Ala) c.435G>C c.309G>C | |
| 6 | g.131860409G>T | CA365667642 | ENPP1 | c.818G>T (p.Gly273Val) c.435G>T c.309G>T | |
| 6 | g.131860410C>A | CA452155374 | ENPP1 | c.819C>A (p.Gly273=) c.436C>A c.310C>A | gnomAD v4 |
| 6 | g.131860410C>G | CA452155373 | ENPP1 | c.819C>G (p.Gly273=) c.436C>G c.310C>G | |
| 6 | g.131860410C>T | CA452155372 | ENPP1 | c.819C>T (p.Gly273=) c.436C>T c.310C>T | gnomAD v4 |
| 6 | g.131860411A= | CA1664259068 | ENPP1 | c.820A= (p.Ile274=) c.437A= c.311A= | |
| 6 | g.131860411A>C | CA365667650 | ENPP1 | c.820A>C (p.Ile274Leu) c.437A>C c.311A>C | |
| 6 | g.131860411A>G | CA365667654 | ENPP1 | c.820A>G (p.Ile274Val) c.437A>G c.311A>G | dbSNP gnomAD v4 |
| 6 | g.131860411A>T | CA147933681 | ENPP1 | c.820A>T (p.Ile274Leu) c.437A>T c.311A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860412T>A | CA365667673 | ENPP1 | c.821T>A (p.Ile274Lys) c.438T>A c.312T>A | |
| 6 | g.131860412T>C | CA365667672 | ENPP1 | c.821T>C (p.Ile274Thr) c.438T>C c.312T>C | |
| 6 | g.131860412T>G | CA365667660 | ENPP1 | c.821T>G (p.Ile274Arg) c.438T>G c.312T>G | |
| 6 | g.131860413A>C | CA452155378 | ENPP1 | c.822A>C (p.Ile274=) c.439A>C c.313A>C | |
| 6 | g.131860413A>G | CA365667674 | ENPP1 | c.822A>G (p.Ile274Met) c.439A>G c.313A>G | |
| 6 | g.131860413A>T | CA452155379 | ENPP1 | c.822A>T (p.Ile274=) c.439A>T c.313A>T | |
| 6 | g.131860414A= | CA1664259072 | ENPP1 | c.823A= (p.Ile275=) c.440A= c.314A= | |
| 6 | g.131860414A>C | CA365667676 | ENPP1 | c.823A>C (p.Ile275Leu) c.440A>C c.314A>C | |
| 6 | g.131860414A>G | CA4002017 | ENPP1 | c.823A>G (p.Ile275Val) c.440A>G c.314A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860414A>T | CA365667682 | ENPP1 | c.823A>T (p.Ile275Phe) c.440A>T c.314A>T | |
| 6 | g.131860415T>A | CA365667687 | ENPP1 | c.824T>A (p.Ile275Asn) c.441T>A c.315T>A | |
| 6 | g.131860415T>C | CA365667691 | ENPP1 | c.824T>C (p.Ile275Thr) c.441T>C c.315T>C | gnomAD v4 |
| 6 | g.131860415T>G | CA365667695 | ENPP1 | c.824T>G (p.Ile275Ser) c.441T>G c.315T>G | |
| 6 | g.131860416C>A | CA452155386 | ENPP1 | c.825C>A (p.Ile275=) c.442C>A c.316C>A | gnomAD v4 |
| 6 | g.131860416C= | CA1664259077 | ENPP1 | c.825C= (p.Ile275=) c.442C= c.316C= | |
| 6 | g.131860416C>G | CA365667703 | ENPP1 | c.825C>G (p.Ile275Met) c.442C>G c.316C>G | |
| 6 | g.131860416C>T | CA147933708 | ENPP1 | c.825C>T (p.Ile275=) c.442C>T c.316C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860417del | CA2578742867 | ENPP1 | c.826del (p.Asp276ThrfsTer9) c.443del c.317del | |
| 6 | g.131860417G>A | CA4002018 | ENPP1 | c.826G>A (p.Asp276Asn) c.443G>A c.317G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860417G>C | CA365667712 | ENPP1 | c.826G>C (p.Asp276His) c.443G>C c.317G>C | |
| 6 | g.131860417G= | CA1664259081 | ENPP1 | c.826G= (p.Asp276=) c.443G= c.317G= | |
| 6 | g.131860417G>T | CA365667715 | ENPP1 | c.826G>T (p.Asp276Tyr) c.443G>T c.317G>T | gnomAD v4 |
| 6 | g.131860418A= | CA1664259085 | ENPP1 | c.827A= (p.Asp276=) c.444A= c.318A= | |
| 6 | g.131860418A>C | CA365667720 | ENPP1 | c.827A>C (p.Asp276Ala) c.444A>C c.318A>C | |
| 6 | g.131860418A>G | CA365667723 | ENPP1 | c.827A>G (p.Asp276Gly) c.444A>G c.318A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.131860418A>T | CA365667718 | ENPP1 | c.827A>T (p.Asp276Val) c.444A>T c.318A>T | |
| 6 | g.131860419C>A | CA365667724 | ENPP1 | c.828C>A (p.Asp276Glu) c.445C>A c.319C>A | |
| 6 | g.131860419C>G | CA365667725 | ENPP1 | c.828C>G (p.Asp276Glu) c.445C>G c.319C>G | gnomAD v4 |
| 6 | g.131860419C>T | CA452155394 | ENPP1 | c.828C>T (p.Asp276=) c.445C>T c.319C>T | |
| 6 | g.131860420A= | CA1664259090 | ENPP1 | c.829A= (p.Asn277=) c.446A= c.320A= | |
| 6 | g.131860420A>C | CA4002019 | ENPP1 | c.829A>C (p.Asn277His) c.446A>C c.320A>C | dbSNP ExAC gnomAD v2 |
| 6 | g.131860420A>G | CA365667729 | ENPP1 | c.829A>G (p.Asn277Asp) c.446A>G c.320A>G | |
| 6 | g.131860420A>T | CA365667732 | ENPP1 | c.829A>T (p.Asn277Tyr) c.446A>T c.320A>T | |
| 6 | g.131860421A>C | CA365667738 | ENPP1 | c.830A>C (p.Asn277Thr) c.447A>C c.321A>C | |
| 6 | g.131860421A>G | CA365667741 | ENPP1 | c.830A>G (p.Asn277Ser) c.447A>G c.321A>G | |
| 6 | g.131860421A>T | CA365667747 | ENPP1 | c.830A>T (p.Asn277Ile) c.447A>T c.321A>T | |
| 6 | g.131860422T>A | CA365667749 | ENPP1 | c.831T>A (p.Asn277Lys) c.448T>A c.322T>A | |
| 6 | g.131860422T>C | CA452155399 | ENPP1 | c.831T>C (p.Asn277=) c.448T>C c.322T>C | |
| 6 | g.131860422T>G | CA365667750 | ENPP1 | c.831T>G (p.Asn277Lys) c.448T>G c.322T>G | |
| 6 | g.131860423A= | CA1664259096 | ENPP1 | c.832A= (p.Lys278=) c.449A= c.323A= | |
| 6 | g.131860423A>C | CA365667754 | ENPP1 | c.832A>C (p.Lys278Gln) c.449A>C c.323A>C | |
| 6 | g.131860423A>G | CA4002020 | ENPP1 | c.832A>G (p.Lys278Glu) c.449A>G c.323A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131860423A>T | CA365667758 | ENPP1 | c.832A>T (p.Lys278Ter) c.449A>T c.323A>T | |
| 6 | g.131860424A>C | CA365667775 | ENPP1 | c.833A>C (p.Lys278Thr) c.450A>C c.324A>C | |
| 6 | g.131860424A>G | CA365667774 | ENPP1 | c.833A>G (p.Lys278Arg) c.450A>G c.324A>G | |
| 6 | g.131860424A>T | CA365667765 | ENPP1 | c.833A>T (p.Lys278Ile) c.450A>T c.324A>T | |
| 6 | g.131860425A>C | CA365667779 | ENPP1 | c.834A>C (p.Lys278Asn) c.451A>C c.325A>C | |
| 6 | g.131860425A>G | CA452155404 | ENPP1 | c.834A>G (p.Lys278=) c.451A>G c.325A>G | |
| 6 | g.131860425A>T | CA365667786 | ENPP1 | c.834A>T (p.Lys278Asn) c.451A>T c.325A>T | |
| 6 | g.131860426A= | CA1664259099 | ENPP1 | c.835A= (p.Met279=) c.452A= c.326A= | |
| 6 | g.131860426A>C | CA365667792 | ENPP1 | c.835A>C (p.Met279Leu) c.452A>C c.326A>C | |
| 6 | g.131860426A>G | CA4002021 | ENPP1 | c.835A>G (p.Met279Val) c.452A>G c.326A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860426A>T | CA365667798 | ENPP1 | c.835A>T (p.Met279Leu) c.452A>T c.326A>T | gnomAD v4 |
| 6 | g.131860427T>A | CA365667805 | ENPP1 | c.836T>A (p.Met279Lys) c.453T>A c.327T>A | |
| 6 | g.131860427T>C | CA365667808 | ENPP1 | c.836T>C (p.Met279Thr) c.453T>C c.327T>C | |
| 6 | g.131860427T>G | CA365667809 | ENPP1 | c.836T>G (p.Met279Arg) c.453T>G c.327T>G | |
| 6 | g.131860428G>A | CA4002022 | ENPP1 | c.837G>A (p.Met279Ile) c.454G>A c.328G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860428G>C | CA365667810 | ENPP1 | c.837G>C (p.Met279Ile) c.454G>C c.328G>C | |
| 6 | g.131860428G= | CA1664259104 | ENPP1 | c.837G= (p.Met279=) c.454G= c.328G= | |
| 6 | g.131860428G>T | CA365667813 | ENPP1 | c.837G>T (p.Met279Ile) c.454G>T c.328G>T | dbSNP |
| 6 | g.131860429T>A | CA365667816 | ENPP1 | c.838T>A (p.Tyr280Asn) c.455T>A c.329T>A | |
| 6 | g.131860429T>C | CA365667825 | ENPP1 | c.838T>C (p.Tyr280His) c.455T>C c.329T>C | |
| 6 | g.131860429T>G | CA365667827 | ENPP1 | c.838T>G (p.Tyr280Asp) c.455T>G c.329T>G | |
| 6 | g.131860430A= | CA1664259108 | ENPP1 | c.839A= (p.Tyr280=) c.456A= c.330A= | |
| 6 | g.131860430A>C | CA365667834 | ENPP1 | c.839A>C (p.Tyr280Ser) c.456A>C c.330A>C | |
| 6 | g.131860430A>G | CA147933767 | ENPP1 | c.839A>G (p.Tyr280Cys) c.456A>G c.330A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131860430A>T | CA365667828 | ENPP1 | c.839A>T (p.Tyr280Phe) c.456A>T c.330A>T | |
| 6 | g.131860431T>A | CA365667845 | ENPP1 | c.840T>A (p.Tyr280Ter) c.457T>A c.331T>A | |
| 6 | g.131860431T>C | CA452155413 | ENPP1 | c.840T>C (p.Tyr280=) c.457T>C c.331T>C | |
| 6 | g.131860431T>G | CA365667851 | ENPP1 | c.840T>G (p.Tyr280Ter) c.457T>G c.331T>G | |
| 6 | g.131860432G>A | CA365667855 | ENPP1 | c.841G>A (p.Asp281Asn) c.458G>A c.332G>A | |
| 6 | g.131860432G>C | CA365667861 | ENPP1 | c.841G>C (p.Asp281His) c.458G>C c.332G>C | |
| 6 | g.131860432G= | CA1664259113 | ENPP1 | c.841G= (p.Asp281=) c.458G= c.332G= | |
| 6 | g.131860432G>T | CA365667858 | ENPP1 | c.841G>T (p.Asp281Tyr) c.458G>T c.332G>T | dbSNP gnomAD v4 |
| 6 | g.131860433A>C | CA365667866 | ENPP1 | c.842A>C (p.Asp281Ala) c.459A>C c.333A>C | |
| 6 | g.131860433A>G | CA365667867 | ENPP1 | c.842A>G (p.Asp281Gly) c.459A>G c.333A>G | |
| 6 | g.131860433A>T | CA365667870 | ENPP1 | c.842A>T (p.Asp281Val) c.459A>T c.333A>T | |
| 6 | g.131860434T>A | CA365667874 | ENPP1 | c.843T>A (p.Asp281Glu) c.460T>A c.334T>A | |
| 6 | g.131860434T>C | CA452155418 | ENPP1 | c.843T>C (p.Asp281=) c.460T>C c.334T>C | |
| 6 | g.131860434T>G | CA365667880 | ENPP1 | c.843T>G (p.Asp281Glu) c.460T>G c.334T>G | |
| 6 | g.131860435C>A | CA365667882 | ENPP1 | c.844C>A (p.Pro282Thr) c.461C>A c.335C>A | gnomAD v4 |
| 6 | g.131860435C>G | CA365667884 | ENPP1 | c.844C>G (p.Pro282Ala) c.461C>G c.335C>G | |
| 6 | g.131860435C>T | CA365667887 | ENPP1 | c.844C>T (p.Pro282Ser) c.461C>T c.335C>T | |
| 6 | g.131860436C>A | CA365667890 | ENPP1 | c.845C>A (p.Pro282His) c.462C>A c.336C>A | |
| 6 | g.131860436C= | CA1664259115 | ENPP1 | c.845C= (p.Pro282=) c.462C= c.336C= | |
| 6 | g.131860436C>G | CA365667895 | ENPP1 | c.845C>G (p.Pro282Arg) c.462C>G c.336C>G | |
| 6 | g.131860436C>T | CA365667899 | ENPP1 | c.845C>T (p.Pro282Leu) c.462C>T c.336C>T | ClinVar dbSNP |
| 6 | g.131860437C>A | CA452155423 | ENPP1 | c.846C>A (p.Pro282=) c.463C>A c.337C>A | gnomAD v4 |
| 6 | g.131860437C>G | CA452155428 | ENPP1 | c.846C>G (p.Pro282=) c.463C>G c.337C>G | |
| 6 | g.131860437C>T | CA452155426 | ENPP1 | c.846C>T (p.Pro282=) c.463C>T c.337C>T | |
| 6 | g.131860438A>C | CA365667911 | ENPP1 | c.847A>C (p.Lys283Gln) c.464A>C c.338A>C | |
| 6 | g.131860438A>G | CA365667903 | ENPP1 | c.847A>G (p.Lys283Glu) c.464A>G c.338A>G | |
| 6 | g.131860438A>T | CA365667908 | ENPP1 | c.847A>T (p.Lys283Ter) c.464A>T c.338A>T | |
| 6 | g.131860439A>C | CA365667919 | ENPP1 | c.848A>C (p.Lys283Thr) c.465A>C c.339A>C | gnomAD v4 |
| 6 | g.131860439A>G | CA365667927 | ENPP1 | c.848A>G (p.Lys283Arg) c.465A>G c.339A>G | |
| 6 | g.131860439A>T | CA365667931 | ENPP1 | c.848A>T (p.Lys283Ile) c.465A>T c.339A>T | gnomAD v4 |
| 6 | g.131860440A>C | CA365667936 | ENPP1 | c.849A>C (p.Lys283Asn) c.466A>C c.340A>C | |
| 6 | g.131860440A>G | CA452155432 | ENPP1 | c.849A>G (p.Lys283=) c.466A>G c.340A>G | |
| 6 | g.131860440A>T | CA365667939 | ENPP1 | c.849A>T (p.Lys283Asn) c.466A>T c.340A>T | |
| 6 | g.131860441A= | CA1664259119 | ENPP1 | c.850A= (p.Met284=) c.467A= c.341A= | |
| 6 | g.131860441A>C | CA365667943 | ENPP1 | c.850A>C (p.Met284Leu) c.467A>C c.341A>C | |
| 6 | g.131860441A>G | CA365667948 | ENPP1 | c.850A>G (p.Met284Val) c.467A>G c.341A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131860441A>T | CA365667950 | ENPP1 | c.850A>T (p.Met284Leu) c.467A>T c.341A>T | |
| 6 | g.131860442T>A | CA365667953 | ENPP1 | c.851T>A (p.Met284Lys) c.468T>A c.342T>A | gnomAD v4 |
| 6 | g.131860442T>C | CA4002023 | ENPP1 | c.851T>C (p.Met284Thr) c.468T>C c.342T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131860442T>G | CA365667956 | ENPP1 | c.851T>G (p.Met284Arg) c.468T>G c.342T>G | |
| 6 | g.131860442T= | CA1664259123 | ENPP1 | c.851T= (p.Met284=) c.468T= c.342T= | |
| 6 | g.131860443G>A | CA365667958 | ENPP1 | c.852G>A (p.Met284Ile) c.469G>A c.343G>A | |
| 6 | g.131860443G>C | CA365667960 | ENPP1 | c.852G>C (p.Met284Ile) c.469G>C c.343G>C | |
| 6 | g.131860443G>T | CA365667957 | ENPP1 | c.852G>T (p.Met284Ile) c.469G>T c.343G>T | |
| 6 | g.131860444A>C | CA365667964 | ENPP1 | c.853A>C (p.Asn285His) c.470A>C c.344A>C | |
| 6 | g.131860444A>G | CA365667968 | ENPP1 | c.853A>G (p.Asn285Asp) c.470A>G c.344A>G | |
| 6 | g.131860444A>T | CA365667970 | ENPP1 | c.853A>T (p.Asn285Tyr) c.470A>T c.344A>T | |
| 6 | g.131860445A>C | CA365667975 | ENPP1 | c.854A>C (p.Asn285Thr) c.471A>C c.345A>C | |
| 6 | g.131860445A>G | CA365667983 | ENPP1 | c.854A>G (p.Asn285Ser) c.471A>G c.345A>G | gnomAD v4 |
| 6 | g.131860445A>T | CA365667987 | ENPP1 | c.854A>T (p.Asn285Ile) c.471A>T c.345A>T | |
| 6 | g.131860446T>A | CA4002024 | ENPP1 | c.855T>A (p.Asn285Lys) c.472T>A c.346T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131860446T>C | CA452155442 | ENPP1 | c.855T>C (p.Asn285=) c.472T>C c.346T>C | |
| 6 | g.131860446T>G | CA365667994 | ENPP1 | c.855T>G (p.Asn285Lys) c.472T>G c.346T>G | |
| 6 | g.131860446T= | CA1664259128 | ENPP1 | c.855T= (p.Asn285=) c.472T= c.346T= | |
| 6 | g.131860447G>A | CA365668004 | ENPP1 | c.856G>A (p.Ala286Thr) c.473G>A c.347G>A | |
| 6 | g.131860447G>C | CA365668005 | ENPP1 | c.856G>C (p.Ala286Pro) c.473G>C c.347G>C | |
| 6 | g.131860447G>T | CA365668006 | ENPP1 | c.856G>T (p.Ala286Ser) c.473G>T c.347G>T | |
| 6 | g.131860448C>A | CA365668008 | ENPP1 | c.857C>A (p.Ala286Asp) c.474C>A c.348C>A | gnomAD v4 |
| 6 | g.131860448C= | CA1664259130 | ENPP1 | c.857C= (p.Ala286=) c.474C= c.348C= | |
| 6 | g.131860448C>G | CA365668013 | ENPP1 | c.857C>G (p.Ala286Gly) c.474C>G c.348C>G | |
| 6 | g.131860448C>T | CA4002025 | ENPP1 | c.857C>T (p.Ala286Val) c.474C>T c.348C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131860449T>A | CA452155444 | ENPP1 | c.858T>A (p.Ala286=) c.475T>A c.349T>A | |
| 6 | g.131860449T>C | CA452155445 | ENPP1 | c.858T>C (p.Ala286=) c.475T>C c.349T>C | COSMIC |
| 6 | g.131860449T>G | CA452155447 | ENPP1 | c.858T>G (p.Ala286=) c.475T>G c.349T>G | |
| 6 | g.131860450T>A | CA365668034 | ENPP1 | c.859T>A (p.Ser287Thr) c.476T>A c.350T>A | |
| 6 | g.131860450T>C | CA365668048 | ENPP1 | c.859T>C (p.Ser287Pro) c.476T>C c.350T>C | gnomAD v4 |
| 6 | g.131860450T>G | CA365668045 | ENPP1 | c.859T>G (p.Ser287Ala) c.476T>G c.350T>G | |
| 6 | g.131860451C>A | CA365668053 | ENPP1 | c.860C>A (p.Ser287Tyr) c.477C>A c.351C>A | gnomAD v4 |
| 6 | g.131860451C= | CA1664259136 | ENPP1 | c.860C= (p.Ser287=) c.477C= c.351C= | |
| 6 | g.131860451C>G | CA365668059 | ENPP1 | c.860C>G (p.Ser287Cys) c.477C>G c.351C>G | |
| 6 | g.131860451C>T | CA4002026 | ENPP1 | c.860C>T (p.Ser287Phe) c.477C>T c.351C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.131860452C>A | CA452155453 | ENPP1 | c.861C>A (p.Ser287=) c.478C>A c.352C>A | gnomAD v4 |
| 6 | g.131860452C>G | CA452155452 | ENPP1 | c.861C>G (p.Ser287=) c.478C>G c.352C>G | gnomAD v4 |
| 6 | g.131860452C>T | CA452155451 | ENPP1 | c.861C>T (p.Ser287=) c.478C>T c.352C>T | |
| 6 | g.131860453T>A | CA365668068 | ENPP1 | c.862T>A (p.Phe288Ile) c.479T>A c.353T>A | |
| 6 | g.131860453T>C | CA365668070 | ENPP1 | c.862T>C (p.Phe288Leu) c.479T>C c.353T>C | gnomAD v4 |
| 6 | g.131860453T>G | CA365668073 | ENPP1 | c.862T>G (p.Phe288Val) c.479T>G c.353T>G | |
| 6 | g.131860454T>A | CA365668078 | ENPP1 | c.863T>A (p.Phe288Tyr) c.480T>A c.354T>A | |
| 6 | g.131860454T>C | CA365668084 | ENPP1 | c.863T>C (p.Phe288Ser) c.480T>C c.354T>C | COSMIC |
| 6 | g.131860454T>G | CA365668088 | ENPP1 | c.863T>G (p.Phe288Cys) c.480T>G c.354T>G | |
| 6 | g.131860455T>A | CA365668091 | ENPP1 | c.864T>A (p.Phe288Leu) c.481T>A c.355T>A | |
| 6 | g.131860455T>C | CA452155456 | ENPP1 | c.864T>C (p.Phe288=) c.481T>C c.355T>C | |
| 6 | g.131860455T>G | CA365668095 | ENPP1 | c.864T>G (p.Phe288Leu) c.481T>G c.355T>G | |
| 6 | g.131860456T>A | CA4002027 | ENPP1 | c.865T>A (p.Ser289Thr) c.482T>A c.356T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860456T>C | CA365668115 | ENPP1 | c.865T>C (p.Ser289Pro) c.482T>C c.356T>C | |
| 6 | g.131860456T>G | CA365668111 | ENPP1 | c.865T>G (p.Ser289Ala) c.482T>G c.356T>G | |
| 6 | g.131860456T= | CA1664259142 | ENPP1 | c.865T= (p.Ser289=) c.482T= c.356T= | |
| 6 | g.131860457C>A | CA365668116 | ENPP1 | c.866C>A (p.Ser289Ter) c.483C>A c.357C>A | |
| 6 | g.131860457C>G | CA365668120 | ENPP1 | c.866C>G (p.Ser289Ter) c.483C>G c.357C>G | |
| 6 | g.131860457C>T | CA365668117 | ENPP1 | c.866C>T (p.Ser289Leu) c.483C>T c.357C>T | |
| 6 | g.131860458A>C | CA452155463 | ENPP1 | c.867A>C (p.Ser289=) c.484A>C c.358A>C | |
| 6 | g.131860458A>G | CA452155459 | ENPP1 | c.867A>G (p.Ser289=) c.484A>G c.358A>G | gnomAD v4 |
| 6 | g.131860458A>T | CA452155461 | ENPP1 | c.867A>T (p.Ser289=) c.484A>T c.358A>T | |
| 6 | g.131860459C>A | CA365668125 | ENPP1 | c.868C>A (p.Leu290Ile) c.485C>A c.359C>A | |
| 6 | g.131860459C>G | CA365668129 | ENPP1 | c.868C>G (p.Leu290Val) c.485C>G c.359C>G | |
| 6 | g.131860459C>T | CA365668132 | ENPP1 | c.868C>T (p.Leu290Phe) c.485C>T c.359C>T | |
| 6 | g.131860460T>A | CA365668138 | ENPP1 | c.869T>A (p.Leu290His) c.486T>A c.360T>A | |
| 6 | g.131860460T>C | CA365668140 | ENPP1 | c.869T>C (p.Leu290Pro) c.486T>C c.360T>C | |
| 6 | g.131860460T>G | CA365668142 | ENPP1 | c.869T>G (p.Leu290Arg) c.486T>G c.360T>G | |
| 6 | g.131860460T= | CA1664259146 | ENPP1 | c.869T= (p.Leu290=) c.486T= c.360T= | |
| 6 | g.131860461T>A | CA452155465 | ENPP1 | c.870T>A (p.Leu290=) c.487T>A c.361T>A | |
| 6 | g.131860461T>C | CA452155466 | ENPP1 | c.870T>C (p.Leu290=) c.487T>C c.361T>C | |
| 6 | g.131860461T>G | CA452155467 | ENPP1 | c.870T>G (p.Leu290=) c.487T>G c.361T>G | |
| 6 | g.131860465_131860470dup | CA570098334 | ENPP1 | c.874_879dup (p.Lys293_Glu294insSerLys) c.491_496dup c.365_370dup | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131860465_131860470del | CA2512174862 | ENPP1 | c.874_879del (p.Ser292_Lys293del) c.491_496del c.365_370del | |
| 6 | g.131860462A>C | CA365668145 | ENPP1 | c.871A>C (p.Lys291Gln) c.488A>C c.362A>C | |
| 6 | g.131860462A>G | CA365668148 | ENPP1 | c.871A>G (p.Lys291Glu) c.488A>G c.362A>G | |
| 6 | g.131860462A>T | CA365668150 | ENPP1 | c.871A>T (p.Lys291Ter) c.488A>T c.362A>T | |
| 6 | g.131860465del | CA2573332439 | ENPP1 | c.874del (p.Ser292ValfsTer?) c.491del c.365del | |
| 6 | g.131860463A>C | CA365668154 | ENPP1 | c.872A>C (p.Lys291Thr) c.489A>C c.363A>C | |
| 6 | g.131860463A>G | CA365668159 | ENPP1 | c.872A>G (p.Lys291Arg) c.489A>G c.363A>G | |
| 6 | g.131860463A>T | CA365668160 | ENPP1 | c.872A>T (p.Lys291Ile) c.489A>T c.363A>T | |
| 6 | g.131860467_131860471del | CA2680367077 | ENPP1 | c.876_880del (p.Ser292ArgfsTer4) c.493_497del c.367_371del | gnomAD v4 |
| 6 | g.131860464A>C | CA365668166 | ENPP1 | c.873A>C (p.Lys291Asn) c.490A>C c.364A>C | |
| 6 | g.131860464A>G | CA452155473 | ENPP1 | c.873A>G (p.Lys291=) c.490A>G c.364A>G | |
| 6 | g.131860464A>T | CA365668169 | ENPP1 | c.873A>T (p.Lys291Asn) c.490A>T c.364A>T | |
| 6 | g.131860465A>C | CA365668170 | ENPP1 | c.874A>C (p.Ser292Arg) c.491A>C c.365A>C | |
| 6 | g.131860465A>G | CA365668171 | ENPP1 | c.874A>G (p.Ser292Gly) c.491A>G c.365A>G | |
| 6 | g.131860465A>T | CA365668172 | ENPP1 | c.874A>T (p.Ser292Cys) c.491A>T c.365A>T | |
| 6 | g.131860466G>A | CA365668176 | ENPP1 | c.875G>A (p.Ser292Asn) c.492G>A c.366G>A | dbSNP gnomAD v4 |
| 6 | g.131860466G>C | CA365668178 | ENPP1 | c.875G>C (p.Ser292Thr) c.492G>C c.366G>C | |
| 6 | g.131860466G= | CA1664259154 | ENPP1 | c.875G= (p.Ser292=) c.492G= c.366G= | |
| 6 | g.131860466G>T | CA365668181 | ENPP1 | c.875G>T (p.Ser292Ile) c.492G>T c.366G>T | |
| 6 | g.131860467T>A | CA365668184 | ENPP1 | c.876T>A (p.Ser292Arg) c.493T>A c.367T>A | |
| 6 | g.131860467T>C | CA452155476 | ENPP1 | c.876T>C (p.Ser292=) c.493T>C c.367T>C | |
| 6 | g.131860467T>G | CA365668189 | ENPP1 | c.876T>G (p.Ser292Arg) c.493T>G c.367T>G | |
| 6 | g.131860467_131860469delinsTAA | CA1664259156 | ENPP1 | c.876_878delinsTAA (p.Ser292=) c.493_495delinsTAA c.367_369delinsTAA | |
| 6 | g.131860468A>C | CA365668194 | ENPP1 | c.877A>C (p.Lys293Gln) c.494A>C c.368A>C | |
| 6 | g.131860468A>G | CA365668197 | ENPP1 | c.877A>G (p.Lys293Glu) c.494A>G c.368A>G | |
| 6 | g.131860468A>T | CA365668201 | ENPP1 | c.877A>T (p.Lys293Ter) c.494A>T c.368A>T | |
| 6 | g.131860469_131860470del | CA819065838 | ENPP1 | c.878_879del (p.Lys293ArgfsTer4) c.495_496del c.369_370del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131860469A>C | CA365668209 | ENPP1 | c.878A>C (p.Lys293Thr) c.495A>C c.369A>C | |
| 6 | g.131860469A>G | CA365668211 | ENPP1 | c.878A>G (p.Lys293Arg) c.495A>G c.369A>G | |
| 6 | g.131860469A>T | CA365668207 | ENPP1 | c.878A>T (p.Lys293Ile) c.495A>T c.369A>T | |
| 6 | g.131860470A>C | CA365668215 | ENPP1 | c.879A>C (p.Lys293Asn) c.496A>C c.370A>C | |
| 6 | g.131860470A>G | CA452155481 | ENPP1 | c.879A>G (p.Lys293=) c.496A>G c.370A>G | |
| 6 | g.131860470A>T | CA365668218 | ENPP1 | c.879A>T (p.Lys293Asn) c.496A>T c.370A>T | |
| 6 | g.131860471G>A | CA365668221 | ENPP1 | c.880G>A (p.Glu294Lys) c.497G>A c.371G>A | |
| 6 | g.131860471G>C | CA365668226 | ENPP1 | c.880G>C (p.Glu294Gln) c.497G>C c.371G>C | dbSNP |
| 6 | g.131860471G>T | CA365668232 | ENPP1 | c.880G>T (p.Glu294Ter) c.497G>T c.371G>T | |
| 6 | g.131860472A= | CA1664259162 | ENPP1 | c.881A= (p.Glu294=) c.498A= c.372A= | |
| 6 | g.131860472A>C | CA365668237 | ENPP1 | c.881A>C (p.Glu294Ala) c.498A>C c.372A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131860472A>G | CA365668242 | ENPP1 | c.881A>G (p.Glu294Gly) c.498A>G c.372A>G | |
| 6 | g.131860472A>T | CA365668244 | ENPP1 | c.881A>T (p.Glu294Val) c.498A>T c.372A>T | |
| 6 | g.131860473G>A | CA147933841 | ENPP1 | c.882G>A (p.Glu294=) c.499G>A c.373G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860473G>C | CA365668248 | ENPP1 | c.882G>C (p.Glu294Asp) c.499G>C c.373G>C | |
| 6 | g.131860473G= | CA1664259165 | ENPP1 | c.882G= (p.Glu294=) c.499G= c.373G= | |
| 6 | g.131860473G>T | CA365668254 | ENPP1 | c.882G>T (p.Glu294Asp) c.499G>T c.373G>T | |
| 6 | g.131860474A>C | CA365668262 | ENPP1 | c.883A>C (p.Lys295Gln) c.500A>C c.374A>C | |
| 6 | g.131860474A>G | CA365668264 | ENPP1 | c.883A>G (p.Lys295Glu) c.500A>G c.374A>G | |
| 6 | g.131860474A>T | CA365668268 | ENPP1 | c.883A>T (p.Lys295Ter) c.500A>T c.374A>T | |
| 6 | g.131860475A>C | CA365668282 | ENPP1 | c.884A>C (p.Lys295Thr) c.501A>C c.375A>C | |
| 6 | g.131860475A>G | CA365668278 | ENPP1 | c.884A>G (p.Lys295Arg) c.501A>G c.375A>G | |
| 6 | g.131860475A>T | CA365668274 | ENPP1 | c.884A>T (p.Lys295Ile) c.501A>T c.375A>T | |
| 6 | g.131860476A>C | CA365668289 | ENPP1 | c.885A>C (p.Lys295Asn) c.502A>C c.376A>C | |
| 6 | g.131860476A>G | CA452155488 | ENPP1 | c.885A>G (p.Lys295=) c.502A>G c.376A>G | |
| 6 | g.131860476A>T | CA365668294 | ENPP1 | c.885A>T (p.Lys295Asn) c.502A>T c.376A>T | |
| 6 | g.131860477T>A | CA365668301 | ENPP1 | c.886T>A (p.Phe296Ile) c.503T>A c.377T>A | |
| 6 | g.131860477T>C | CA365668314 | ENPP1 | c.886T>C (p.Phe296Leu) c.503T>C c.377T>C | |
| 6 | g.131860477T>G | CA365668317 | ENPP1 | c.886T>G (p.Phe296Val) c.503T>G c.377T>G | |
| 6 | g.131860478T>A | CA365668321 | ENPP1 | c.887T>A (p.Phe296Tyr) c.504T>A c.378T>A | |
| 6 | g.131860478T>C | CA365668323 | ENPP1 | c.887T>C (p.Phe296Ser) c.504T>C c.378T>C | |
| 6 | g.131860478T>G | CA365668328 | ENPP1 | c.887T>G (p.Phe296Cys) c.504T>G c.378T>G | |
| 6 | g.131860479T>A | CA365668333 | ENPP1 | c.888T>A (p.Phe296Leu) c.505T>A c.379T>A | |
| 6 | g.131860479T>C | CA452155490 | ENPP1 | c.888T>C (p.Phe296=) c.505T>C c.379T>C | |
| 6 | g.131860479T>G | CA365668337 | ENPP1 | c.888T>G (p.Phe296Leu) c.505T>G c.379T>G | |
| 6 | g.131860480A>C | CA365668352 | ENPP1 | c.889A>C (p.Asn297His) c.506A>C c.380A>C | ClinVar |
| 6 | g.131860480A>G | CA365668355 | ENPP1 | c.889A>G (p.Asn297Asp) c.506A>G c.380A>G | |
| 6 | g.131860480A>T | CA365668357 | ENPP1 | c.889A>T (p.Asn297Tyr) c.506A>T c.380A>T | |
| 6 | g.131860481A>C | CA365668367 | ENPP1 | c.890A>C (p.Asn297Thr) c.507A>C c.381A>C | |
| 6 | g.131860481A>G | CA365668360 | ENPP1 | c.890A>G (p.Asn297Ser) c.507A>G c.381A>G | |
| 6 | g.131860481A>T | CA365668364 | ENPP1 | c.890A>T (p.Asn297Ile) c.507A>T c.381A>T | |
| 6 | g.131860482T>A | CA365668369 | ENPP1 | c.891T>A (p.Asn297Lys) c.508T>A c.382T>A | |
| 6 | g.131860482T>C | CA452155493 | ENPP1 | c.891T>C (p.Asn297=) c.508T>C c.382T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131860482T>G | CA365668372 | ENPP1 | c.891T>G (p.Asn297Lys) c.508T>G c.382T>G | |
| 6 | g.131860482T= | CA1664259168 | ENPP1 | c.891T= (p.Asn297=) c.508T= c.382T= | |
| 6 | g.131860483C>A | CA365668376 | ENPP1 | c.892C>A (p.Pro298Thr) c.509C>A c.383C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860483C= | CA1664259172 | ENPP1 | c.892C= (p.Pro298=) c.509C= c.383C= | |
| 6 | g.131860483C>G | CA365668382 | ENPP1 | c.892C>G (p.Pro298Ala) c.509C>G c.383C>G | gnomAD v4 |
| 6 | g.131860483C>T | CA365668378 | ENPP1 | c.892C>T (p.Pro298Ser) c.509C>T c.383C>T | |
| 6 | g.131860484C>A | CA365668386 | ENPP1 | c.893C>A (p.Pro298His) c.510C>A c.384C>A | gnomAD v4 |
| 6 | g.131860484C= | CA1664259175 | ENPP1 | c.893C= (p.Pro298=) c.510C= c.384C= | |
| 6 | g.131860484C>G | CA365668389 | ENPP1 | c.893C>G (p.Pro298Arg) c.510C>G c.384C>G | |
| 6 | g.131860484C>T | CA4002028 | ENPP1 | c.893C>T (p.Pro298Leu) c.510C>T c.384C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.131860485T>A | CA452155495 | ENPP1 | c.894T>A (p.Pro298=) c.511T>A c.385T>A | |
| 6 | g.131860485T>C | CA452155498 | ENPP1 | c.894T>C (p.Pro298=) c.511T>C c.385T>C | |
| 6 | g.131860485T>G | CA452155496 | ENPP1 | c.894T>G (p.Pro298=) c.511T>G c.385T>G | |
| 6 | g.131860486G>A | CA365668396 | ENPP1 | c.895G>A (p.Glu299Lys) c.512G>A c.386G>A | |
| 6 | g.131860486G>C | CA365668399 | ENPP1 | c.895G>C (p.Glu299Gln) c.512G>C c.386G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.131860486G= | CA1664259177 | ENPP1 | c.895G= (p.Glu299=) c.512G= c.386G= | |
| 6 | g.131860486G>T | CA365668402 | ENPP1 | c.895G>T (p.Glu299Ter) c.512G>T c.386G>T | |
| 6 | g.131860487A>C | CA365668410 | ENPP1 | c.896A>C (p.Glu299Ala) c.513A>C c.387A>C | |
| 6 | g.131860487A>G | CA365668409 | ENPP1 | c.896A>G (p.Glu299Gly) c.513A>G c.387A>G | gnomAD v4 |
| 6 | g.131860487A>T | CA365668405 | ENPP1 | c.896A>T (p.Glu299Val) c.513A>T c.387A>T | |
| 6 | g.131860488G>A | CA4002029 | ENPP1 | c.897G>A (p.Glu299=) c.514G>A c.388G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131860488G>C | CA4002030 | ENPP1 | c.897G>C (p.Glu299Asp) c.514G>C c.388G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.131860488G= | CA1664259180 | ENPP1 | c.897G= (p.Glu299=) c.514G= c.388G= | |
| 6 | g.131860488G>T | CA365668411 | ENPP1 | c.897G>T (p.Glu299Asp) c.514G>T c.388G>T |