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 |
|---|---|---|---|---|---|
| 3 | g.81642905T>A | CA353687407 | GBE1 | c.868A>T (p.Ser290Cys) c.745A>T (p.Ser249Cys) n.418A>T | |
| 3 | g.81642905T>C | CA353687408 | GBE1 | c.868A>G (p.Ser290Gly) c.745A>G (p.Ser249Gly) n.418A>G | |
| 3 | g.81642905T>G | CA353687409 | GBE1 | c.868A>C (p.Ser290Arg) c.745A>C (p.Ser249Arg) n.418A>C | |
| 3 | g.81642906G>A | CA2499843 | GBE1 | c.867C>T (p.His289=) c.744C>T (p.His248=) n.417C>T | dbSNP ExAC gnomAD v2 |
| 3 | g.81642906G>C | CA353687410 | GBE1 | c.867C>G (p.His289Gln) c.744C>G (p.His248Gln) n.417C>G | |
| 3 | g.81642906G= | CA1378708590 | GBE1 | c.867C= (p.His289=) c.744C= (p.His248=) n.417C= | |
| 3 | g.81642906G>T | CA353687411 | GBE1 | c.867C>A (p.His289Gln) c.744C>A (p.His248Gln) n.417C>A | |
| 3 | g.81642907T>A | CA353687412 | GBE1 | c.866A>T (p.His289Leu) c.743A>T (p.His248Leu) n.416A>T | |
| 3 | g.81642907T>C | CA353687413 | GBE1 | c.866A>G (p.His289Arg) c.743A>G (p.His248Arg) n.416A>G | |
| 3 | g.81642907T>G | CA353687414 | GBE1 | c.866A>C (p.His289Pro) c.743A>C (p.His248Pro) n.416A>C | |
| 3 | g.81642908G>A | CA353687415 | GBE1 | c.865C>T (p.His289Tyr) c.742C>T (p.His248Tyr) n.415C>T | |
| 3 | g.81642908G>C | CA353687416 | GBE1 | c.865C>G (p.His289Asp) c.742C>G (p.His248Asp) n.415C>G | |
| 3 | g.81642908G>T | CA353687417 | GBE1 | c.865C>A (p.His289Asn) c.742C>A (p.His248Asn) n.415C>A | |
| 3 | g.81642909T>A | CA434493837 | GBE1 | c.864A>T (p.Val288=) c.741A>T (p.Val247=) n.414A>T | |
| 3 | g.81642909T>C | CA434493839 | GBE1 | c.864A>G (p.Val288=) c.741A>G (p.Val247=) n.414A>G | |
| 3 | g.81642909T>G | CA434493838 | GBE1 | c.864A>C (p.Val288=) c.741A>C (p.Val247=) n.414A>C | |
| 3 | g.81642910A>C | CA353687418 | GBE1 | c.863T>G (p.Val288Gly) c.740T>G (p.Val247Gly) n.413T>G | |
| 3 | g.81642910A>G | CA353687420 | GBE1 | c.863T>C (p.Val288Ala) c.740T>C (p.Val247Ala) n.413T>C | |
| 3 | g.81642910A>T | CA353687419 | GBE1 | c.863T>A (p.Val288Glu) c.740T>A (p.Val247Glu) n.413T>A | |
| 3 | g.81642911C>A | CA353687421 | GBE1 | c.862G>T (p.Val288Leu) c.739G>T (p.Val247Leu) n.412G>T | gnomAD v4 |
| 3 | g.81642911C= | CA1378708592 | GBE1 | c.862G= (p.Val288=) c.739G= (p.Val247=) n.412G= | |
| 3 | g.81642911C>G | CA353687422 | GBE1 | c.862G>C (p.Val288Leu) c.739G>C (p.Val247Leu) n.412G>C | gnomAD v4 |
| 3 | g.81642911C>T | CA353687423 | GBE1 | c.862G>A (p.Val288Ile) c.739G>A (p.Val247Ile) n.412G>A | |
| 3 | g.81642912C>A | CA434493843 | GBE1 | c.861G>T (p.Val287=) c.738G>T (p.Val246=) n.411G>T | |
| 3 | g.81642912C>G | CA434493844 | GBE1 | c.861G>C (p.Val287=) c.738G>C (p.Val246=) n.411G>C | |
| 3 | g.81642912C>T | CA434493845 | GBE1 | c.861G>A (p.Val287=) c.738G>A (p.Val246=) n.411G>A | |
| 3 | g.81642914_81642915dup | CA544276122 | GBE1 | c.860_861dup (p.Val288TrpfsTer14) c.737_738dup (p.Val247TrpfsTer14) n.410_411dup | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81642913A>C | CA353687424 | GBE1 | c.860T>G (p.Val287Gly) c.737T>G (p.Val246Gly) n.410T>G | |
| 3 | g.81642913A>G | CA353687425 | GBE1 | c.860T>C (p.Val287Ala) c.737T>C (p.Val246Ala) n.410T>C | gnomAD v4 |
| 3 | g.81642913A>T | CA353687426 | GBE1 | c.860T>A (p.Val287Glu) c.737T>A (p.Val246Glu) n.410T>A | |
| 3 | g.81642914C>A | CA353687427 | GBE1 | c.859G>T (p.Val287Leu) c.736G>T (p.Val246Leu) n.409G>T | |
| 3 | g.81642914C= | CA1378708598 | GBE1 | c.859G= (p.Val287=) c.736G= (p.Val246=) n.409G= | |
| 3 | g.81642914C>G | CA2499844 | GBE1 | c.859G>C (p.Val287Leu) c.736G>C (p.Val246Leu) n.409G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642914C>T | CA78291836 | GBE1 | c.859G>A (p.Val287Met) c.736G>A (p.Val246Met) n.409G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81642915A>C | CA353687428 | GBE1 | c.858T>G (p.Asp286Glu) c.735T>G (p.Asp245Glu) n.408T>G | |
| 3 | g.81642915A>G | CA434493850 | GBE1 | c.858T>C (p.Asp286=) c.735T>C (p.Asp245=) n.408T>C | |
| 3 | g.81642915A>T | CA353687429 | GBE1 | c.858T>A (p.Asp286Glu) c.735T>A (p.Asp245Glu) n.408T>A | |
| 3 | g.81642916T>A | CA353687430 | GBE1 | c.857A>T (p.Asp286Val) c.734A>T (p.Asp245Val) n.407A>T | |
| 3 | g.81642916T>C | CA353687431 | GBE1 | c.857A>G (p.Asp286Gly) c.734A>G (p.Asp245Gly) n.407A>G | |
| 3 | g.81642916T>G | CA353687432 | GBE1 | c.857A>C (p.Asp286Ala) c.734A>C (p.Asp245Ala) n.407A>C | |
| 3 | g.81642917C>A | CA353687435 | GBE1 | c.856G>T (p.Asp286Tyr) c.733G>T (p.Asp245Tyr) n.406G>T | |
| 3 | g.81642917C>G | CA353687433 | GBE1 | c.856G>C (p.Asp286His) c.733G>C (p.Asp245His) n.406G>C | |
| 3 | g.81642917C>T | CA353687434 | GBE1 | c.856G>A (p.Asp286Asn) c.733G>A (p.Asp245Asn) n.406G>A | |
| 3 | g.81642918T>A | CA353687436 | GBE1 | c.855A>T (p.Leu285Phe) c.732A>T (p.Leu244Phe) n.405A>T | |
| 3 | g.81642918T>C | CA434493851 | GBE1 | c.855A>G (p.Leu285=) c.732A>G (p.Leu244=) n.405A>G | gnomAD v4 |
| 3 | g.81642918T>G | CA353687437 | GBE1 | c.855A>C (p.Leu285Phe) c.732A>C (p.Leu244Phe) n.405A>C | |
| 3 | g.81642919A= | CA1378708604 | GBE1 | c.854T= (p.Leu285=) c.731T= (p.Leu244=) n.404T= | |
| 3 | g.81642919A>C | CA353687438 | GBE1 | c.854T>G (p.Leu285Ter) c.731T>G (p.Leu244Ter) n.404T>G | ClinVar dbSNP |
| 3 | g.81642919A>G | CA353687439 | GBE1 | c.854T>C (p.Leu285Ser) c.731T>C (p.Leu244Ser) n.404T>C | |
| 3 | g.81642919A>T | CA353687440 | GBE1 | c.854T>A (p.Leu285Ter) c.731T>A (p.Leu244Ter) n.404T>A | |
| 3 | g.81642920A>C | CA353687441 | GBE1 | c.853T>G (p.Leu285Val) c.730T>G (p.Leu244Val) n.403T>G | |
| 3 | g.81642920A>G | CA434493853 | GBE1 | c.853T>C (p.Leu285=) c.730T>C (p.Leu244=) n.403T>C | |
| 3 | g.81642920A>T | CA353687442 | GBE1 | c.853T>A (p.Leu285Ile) c.730T>A (p.Leu244Ile) n.403T>A | |
| 3 | g.81642921G>A | CA434493854 | GBE1 | c.852C>T (p.Leu284=) c.729C>T (p.Leu243=) n.402C>T | gnomAD v3 gnomAD v4 |
| 3 | g.81642921G>C | CA434493855 | GBE1 | c.852C>G (p.Leu284=) c.729C>G (p.Leu243=) n.402C>G | dbSNP |
| 3 | g.81642921G= | CA1378708607 | GBE1 | c.852C= (p.Leu284=) c.729C= (p.Leu243=) n.402C= | |
| 3 | g.81642921G>T | CA434493856 | GBE1 | c.852C>A (p.Leu284=) c.729C>A (p.Leu243=) n.402C>A | |
| 3 | g.81642922A>C | CA353687443 | GBE1 | c.851T>G (p.Leu284Arg) c.728T>G (p.Leu243Arg) n.401T>G | |
| 3 | g.81642922A>G | CA353687444 | GBE1 | c.851T>C (p.Leu284Pro) c.728T>C (p.Leu243Pro) n.401T>C | |
| 3 | g.81642922A>T | CA353687445 | GBE1 | c.851T>A (p.Leu284His) c.728T>A (p.Leu243His) n.401T>A | |
| 3 | g.81642923G>A | CA353687446 | GBE1 | c.850C>T (p.Leu284Phe) c.727C>T (p.Leu243Phe) n.400C>T | dbSNP |
| 3 | g.81642923G>C | CA353687447 | GBE1 | c.850C>G (p.Leu284Val) c.727C>G (p.Leu243Val) n.400C>G | |
| 3 | g.81642923G= | CA1378708610 | GBE1 | c.850C= (p.Leu284=) c.727C= (p.Leu243=) n.400C= | |
| 3 | g.81642923G>T | CA353687448 | GBE1 | c.850C>A (p.Leu284Ile) c.727C>A (p.Leu243Ile) n.400C>A | |
| 3 | g.81642924G>A | CA434493859 | GBE1 | c.849C>T (p.Val283=) c.726C>T (p.Val242=) n.399C>T | dbSNP COSMIC COSMIC |
| 3 | g.81642924G>C | CA434493862 | GBE1 | c.849C>G (p.Val283=) c.726C>G (p.Val242=) n.399C>G | ClinVar dbSNP |
| 3 | g.81642924G= | CA1378708612 | GBE1 | c.849C= (p.Val283=) c.726C= (p.Val242=) n.399C= | |
| 3 | g.81642924G>T | CA434493860 | GBE1 | c.849C>A (p.Val283=) c.726C>A (p.Val242=) n.399C>A | |
| 3 | g.81642925A>C | CA353687449 | GBE1 | c.848T>G (p.Val283Gly) c.725T>G (p.Val242Gly) n.398T>G | gnomAD v4 |
| 3 | g.81642925A>G | CA353687451 | GBE1 | c.848T>C (p.Val283Ala) c.725T>C (p.Val242Ala) n.398T>C | |
| 3 | g.81642925A>T | CA353687450 | GBE1 | c.848T>A (p.Val283Asp) c.725T>A (p.Val242Asp) n.398T>A | |
| 3 | g.81642926C>A | CA353687452 | GBE1 | c.847G>T (p.Val283Phe) c.724G>T (p.Val242Phe) n.397G>T | |
| 3 | g.81642926C>G | CA353687453 | GBE1 | c.847G>C (p.Val283Leu) c.724G>C (p.Val242Leu) n.397G>C | gnomAD v4 |
| 3 | g.81642926C>T | CA353687454 | GBE1 | c.847G>A (p.Val283Ile) c.724G>A (p.Val242Ile) n.397G>A | |
| 3 | g.81642927T>A | CA434493865 | GBE1 | c.846A>T (p.Ile282=) c.723A>T (p.Ile241=) n.396A>T | |
| 3 | g.81642927T>C | CA353687455 | GBE1 | c.846A>G (p.Ile282Met) c.723A>G (p.Ile241Met) n.396A>G | |
| 3 | g.81642927T>G | CA78291837 | GBE1 | c.846A>C (p.Ile282=) c.723A>C (p.Ile241=) n.396A>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642927T= | CA1378708614 | GBE1 | c.846A= (p.Ile282=) c.723A= (p.Ile241=) n.396A= | |
| 3 | g.81642928A>C | CA353687456 | GBE1 | c.845T>G (p.Ile282Arg) c.722T>G (p.Ile241Arg) n.395T>G | |
| 3 | g.81642928A>G | CA353687457 | GBE1 | c.845T>C (p.Ile282Thr) c.722T>C (p.Ile241Thr) n.395T>C | gnomAD v4 |
| 3 | g.81642928A>T | CA353687458 | GBE1 | c.845T>A (p.Ile282Lys) c.722T>A (p.Ile241Lys) n.395T>A | |
| 3 | g.81642929T>A | CA353687459 | GBE1 | c.844A>T (p.Ile282Leu) c.721A>T (p.Ile241Leu) n.394A>T | |
| 3 | g.81642929T>C | CA2499845 | GBE1 | c.844A>G (p.Ile282Val) c.721A>G (p.Ile241Val) n.394A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642929T>G | CA353687460 | GBE1 | c.844A>C (p.Ile282Leu) c.721A>C (p.Ile241Leu) n.394A>C | |
| 3 | g.81642929T= | CA1378708617 | GBE1 | c.844A= (p.Ile282=) c.721A= (p.Ile241=) n.394A= | |
| 3 | g.81642930G>A | CA434493867 | GBE1 | c.843C>T (p.Ile281=) c.720C>T (p.Ile240=) n.393C>T | |
| 3 | g.81642930G>C | CA353687461 | GBE1 | c.843C>G (p.Ile281Met) c.720C>G (p.Ile240Met) n.393C>G | gnomAD v4 |
| 3 | g.81642930G>T | CA434493868 | GBE1 | c.843C>A (p.Ile281=) c.720C>A (p.Ile240=) n.393C>A | |
| 3 | g.81642931A= | CA1378708620 | GBE1 | c.842T= (p.Ile281=) c.719T= (p.Ile240=) n.392T= | |
| 3 | g.81642931A>C | CA353687464 | GBE1 | c.842T>G (p.Ile281Ser) c.719T>G (p.Ile240Ser) n.392T>G | ClinVar dbSNP |
| 3 | g.81642931A>G | CA353687463 | GBE1 | c.842T>C (p.Ile281Thr) c.719T>C (p.Ile240Thr) n.392T>C | |
| 3 | g.81642931A>T | CA353687462 | GBE1 | c.842T>A (p.Ile281Asn) c.719T>A (p.Ile240Asn) n.392T>A | |
| 3 | g.81642932T>A | CA353687465 | GBE1 | c.841A>T (p.Ile281Phe) c.718A>T (p.Ile240Phe) n.391A>T | ClinVar dbSNP |
| 3 | g.81642932T>C | CA353687466 | GBE1 | c.841A>G (p.Ile281Val) c.718A>G (p.Ile240Val) n.391A>G | |
| 3 | g.81642932T>G | CA353687467 | GBE1 | c.841A>C (p.Ile281Leu) c.718A>C (p.Ile240Leu) n.391A>C | |
| 3 | g.81642933A>C | CA434493869 | GBE1 | c.840T>G (p.Gly280=) c.717T>G (p.Gly239=) n.390T>G | |
| 3 | g.81642933A>G | CA434493870 | GBE1 | c.840T>C (p.Gly280=) c.717T>C (p.Gly239=) n.390T>C | |
| 3 | g.81642933A>T | CA434493871 | GBE1 | c.840T>A (p.Gly280=) c.717T>A (p.Gly239=) n.390T>A | |
| 3 | g.81642933dup | CA2666623719 | GBE1 | c.840dup (p.Ile281TyrfsTer24) c.717dup (p.Ile240TyrfsTer24) n.390dup | gnomAD v4 |
| 3 | g.81642934C>A | CA353687468 | GBE1 | c.839G>T (p.Gly280Val) c.716G>T (p.Gly239Val) n.389G>T | |
| 3 | g.81642934C= | CA1378708624 | GBE1 | c.839G= (p.Gly280=) c.716G= (p.Gly239=) n.389G= | |
| 3 | g.81642934C>G | CA353687469 | GBE1 | c.839G>C (p.Gly280Ala) c.716G>C (p.Gly239Ala) n.389G>C | |
| 3 | g.81642934C>T | CA2499846 | GBE1 | c.839G>A (p.Gly280Asp) c.716G>A (p.Gly239Asp) n.389G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642936del | CA2666623720 | GBE1 | c.839del (p.Gly280ValfsTer3) c.716del (p.Gly239ValfsTer3) n.389del | gnomAD v4 |
| 3 | g.81642935C>A | CA353687470 | GBE1 | c.838G>T (p.Gly280Cys) c.715G>T (p.Gly239Cys) n.388G>T | gnomAD v4 |
| 3 | g.81642935C>G | CA353687471 | GBE1 | c.838G>C (p.Gly280Arg) c.715G>C (p.Gly239Arg) n.388G>C | gnomAD v4 |
| 3 | g.81642935C>T | CA353687472 | GBE1 | c.838G>A (p.Gly280Ser) c.715G>A (p.Gly239Ser) n.388G>A | gnomAD v4 |
| 3 | g.81642936C>A | CA78291838 | GBE1 | c.837G>T (p.Met279Ile) c.714G>T (p.Met238Ile) n.387G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642936C= | CA1378708627 | GBE1 | c.837G= (p.Met279=) c.714G= (p.Met238=) n.387G= | |
| 3 | g.81642936C>G | CA353687473 | GBE1 | c.837G>C (p.Met279Ile) c.714G>C (p.Met238Ile) n.387G>C | |
| 3 | g.81642936C>T | CA353687474 | GBE1 | c.837G>A (p.Met279Ile) c.714G>A (p.Met238Ile) n.387G>A | |
| 3 | g.81642937A>C | CA353687477 | GBE1 | c.836T>G (p.Met279Arg) c.713T>G (p.Met238Arg) n.386T>G | |
| 3 | g.81642937A>G | CA353687476 | GBE1 | c.836T>C (p.Met279Thr) c.713T>C (p.Met238Thr) n.386T>C | gnomAD v4 |
| 3 | g.81642937A>T | CA353687475 | GBE1 | c.836T>A (p.Met279Lys) c.713T>A (p.Met238Lys) n.386T>A | |
| 3 | g.81642938T>A | CA353687478 | GBE1 | c.835A>T (p.Met279Leu) c.712A>T (p.Met238Leu) n.385A>T | |
| 3 | g.81642938T>C | CA353687479 | GBE1 | c.835A>G (p.Met279Val) c.712A>G (p.Met238Val) n.385A>G | dbSNP gnomAD v4 |
| 3 | g.81642938T>G | CA353687480 | GBE1 | c.835A>C (p.Met279Leu) c.712A>C (p.Met238Leu) n.385A>C | |
| 3 | g.81642938T= | CA1378708630 | GBE1 | c.835A= (p.Met279=) c.712A= (p.Met238=) n.385A= | |
| 3 | g.81642939G>A | CA434493873 | GBE1 | c.834C>T (p.Ser278=) c.711C>T (p.Ser237=) n.384C>T | |
| 3 | g.81642939G>C | CA434493874 | GBE1 | c.834C>G (p.Ser278=) c.711C>G (p.Ser237=) n.384C>G | |
| 3 | g.81642939G>T | CA434493875 | GBE1 | c.834C>A (p.Ser278=) c.711C>A (p.Ser237=) n.384C>A | |
| 3 | g.81642940G>A | CA353687481 | GBE1 | c.833C>T (p.Ser278Phe) c.710C>T (p.Ser237Phe) n.383C>T | |
| 3 | g.81642940G>C | CA353687482 | GBE1 | c.833C>G (p.Ser278Cys) c.710C>G (p.Ser237Cys) n.383C>G | |
| 3 | g.81642940G>T | CA353687483 | GBE1 | c.833C>A (p.Ser278Tyr) c.710C>A (p.Ser237Tyr) n.383C>A | |
| 3 | g.81642941A>C | CA353687484 | GBE1 | c.832T>G (p.Ser278Ala) c.709T>G (p.Ser237Ala) n.382T>G | |
| 3 | g.81642941A>G | CA353687485 | GBE1 | c.832T>C (p.Ser278Pro) c.709T>C (p.Ser237Pro) n.382T>C | |
| 3 | g.81642941A>T | CA353687486 | GBE1 | c.832T>A (p.Ser278Thr) c.709T>A (p.Ser237Thr) n.382T>A | |
| 3 | g.81642942A>C | CA353687487 | GBE1 | c.831T>G (p.His277Gln) c.708T>G (p.His236Gln) n.381T>G | |
| 3 | g.81642942A>G | CA434493876 | GBE1 | c.831T>C (p.His277=) c.708T>C (p.His236=) n.381T>C | |
| 3 | g.81642942A>T | CA353687488 | GBE1 | c.831T>A (p.His277Gln) c.708T>A (p.His236Gln) n.381T>A | |
| 3 | g.81642943T>A | CA353687489 | GBE1 | c.830A>T (p.His277Leu) c.707A>T (p.His236Leu) n.380A>T | gnomAD v4 |
| 3 | g.81642943T>C | CA353687490 | GBE1 | c.830A>G (p.His277Arg) c.707A>G (p.His236Arg) n.380A>G | |
| 3 | g.81642943T>G | CA353687491 | GBE1 | c.830A>C (p.His277Pro) c.707A>C (p.His236Pro) n.380A>C | |
| 3 | g.81642944G>A | CA353687494 | GBE1 | c.829C>T (p.His277Tyr) c.706C>T (p.His236Tyr) n.379C>T | |
| 3 | g.81642944G>C | CA353687493 | GBE1 | c.829C>G (p.His277Asp) c.706C>G (p.His236Asp) n.379C>G | |
| 3 | g.81642944G>T | CA353687492 | GBE1 | c.829C>A (p.His277Asn) c.706C>A (p.His236Asn) n.379C>A | |
| 3 | g.81642945A>C | CA434493877 | GBE1 | c.828T>G (p.Ala276=) c.705T>G (p.Ala235=) n.378T>G | |
| 3 | g.81642945A>G | CA434493878 | GBE1 | c.828T>C (p.Ala276=) c.705T>C (p.Ala235=) n.378T>C | ClinVar |
| 3 | g.81642945A>T | CA434493879 | GBE1 | c.828T>A (p.Ala276=) c.705T>A (p.Ala235=) n.378T>A | |
| 3 | g.81642946G>A | CA353687495 | GBE1 | c.827C>T (p.Ala276Val) c.704C>T (p.Ala235Val) n.377C>T | gnomAD v4 |
| 3 | g.81642946G>C | CA2499847 | GBE1 | c.827C>G (p.Ala276Gly) c.704C>G (p.Ala235Gly) n.377C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642946G= | CA1378708635 | GBE1 | c.827C= (p.Ala276=) c.704C= (p.Ala235=) n.377C= | |
| 3 | g.81642946G>T | CA353687496 | GBE1 | c.827C>A (p.Ala276Asp) c.704C>A (p.Ala235Asp) n.377C>A | |
| 3 | g.81642947C>A | CA353687497 | GBE1 | c.826G>T (p.Ala276Ser) c.703G>T (p.Ala235Ser) n.376G>T | |
| 3 | g.81642947C>G | CA353687498 | GBE1 | c.826G>C (p.Ala276Pro) c.703G>C (p.Ala235Pro) n.376G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642947C>T | CA353687499 | GBE1 | c.826G>A (p.Ala276Thr) c.703G>A (p.Ala235Thr) n.376G>A | |
| 3 | g.81642948T>A | CA434493880 | GBE1 | c.825A>T (p.Thr275=) c.702A>T (p.Thr234=) n.375A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642948T>C | CA434493881 | GBE1 | c.825A>G (p.Thr275=) c.702A>G (p.Thr234=) n.375A>G | ClinVar |
| 3 | g.81642948T>G | CA434493882 | GBE1 | c.825A>C (p.Thr275=) c.702A>C (p.Thr234=) n.375A>C | |
| 3 | g.81642949G>A | CA353687500 | GBE1 | c.824C>T (p.Thr275Ile) c.701C>T (p.Thr234Ile) n.374C>T | COSMIC COSMIC |
| 3 | g.81642949G>C | CA353687501 | GBE1 | c.824C>G (p.Thr275Arg) c.701C>G (p.Thr234Arg) n.374C>G | |
| 3 | g.81642949G>T | CA353687502 | GBE1 | c.824C>A (p.Thr275Lys) c.701C>A (p.Thr234Lys) n.374C>A | |
| 3 | g.81642950T>A | CA353687503 | GBE1 | c.823A>T (p.Thr275Ser) c.700A>T (p.Thr234Ser) n.373A>T | |
| 3 | g.81642950T>C | CA353687504 | GBE1 | c.823A>G (p.Thr275Ala) c.700A>G (p.Thr234Ala) n.373A>G | gnomAD v4 |
| 3 | g.81642950T>G | CA353687505 | GBE1 | c.823A>C (p.Thr275Pro) c.700A>C (p.Thr234Pro) n.373A>C | dbSNP |
| 3 | g.81642950T= | CA1378708637 | GBE1 | c.823A= (p.Thr275=) c.700A= (p.Thr234=) n.373A= | |
| 3 | g.81642951G>A | CA434493883 | GBE1 | c.822C>T (p.Asp274=) c.699C>T (p.Asp233=) n.372C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642951G>C | CA353687506 | GBE1 | c.822C>G (p.Asp274Glu) c.699C>G (p.Asp233Glu) n.372C>G | |
| 3 | g.81642951G>T | CA353687507 | GBE1 | c.822C>A (p.Asp274Glu) c.699C>A (p.Asp233Glu) n.372C>A | |
| 3 | g.81642952T>A | CA353687509 | GBE1 | c.821A>T (p.Asp274Val) c.698A>T (p.Asp233Val) n.371A>T | |
| 3 | g.81642952T>C | CA353687510 | GBE1 | c.821A>G (p.Asp274Gly) c.698A>G (p.Asp233Gly) n.371A>G | gnomAD v4 |
| 3 | g.81642952T>G | CA353687508 | GBE1 | c.821A>C (p.Asp274Ala) c.698A>C (p.Asp233Ala) n.371A>C | |
| 3 | g.81642953C>A | CA353687511 | GBE1 | c.820G>T (p.Asp274Tyr) c.697G>T (p.Asp233Tyr) n.370G>T | |
| 3 | g.81642953C= | CA1378708639 | GBE1 | c.820G= (p.Asp274=) c.697G= (p.Asp233=) n.370G= | |
| 3 | g.81642953C>G | CA353687512 | GBE1 | c.820G>C (p.Asp274His) c.697G>C (p.Asp233His) n.370G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81642953C>T | CA353687513 | GBE1 | c.820G>A (p.Asp274Asn) c.697G>A (p.Asp233Asn) n.370G>A | |
| 3 | g.81642954T>A | CA434493884 | GBE1 | c.819A>T (p.Val273=) c.696A>T (p.Val232=) n.369A>T | |
| 3 | g.81642954T>C | CA434493885 | GBE1 | c.819A>G (p.Val273=) c.696A>G (p.Val232=) n.369A>G | |
| 3 | g.81642954T>G | CA434493886 | GBE1 | c.819A>C (p.Val273=) c.696A>C (p.Val232=) n.369A>C | |
| 3 | g.81642955A>C | CA353687514 | GBE1 | c.818T>G (p.Val273Gly) c.695T>G (p.Val232Gly) n.368T>G | |
| 3 | g.81642955A>G | CA353687515 | GBE1 | c.818T>C (p.Val273Ala) c.695T>C (p.Val232Ala) n.368T>C | |
| 3 | g.81642955A>T | CA353687516 | GBE1 | c.818T>A (p.Val273Glu) c.695T>A (p.Val232Glu) n.368T>A | |
| 3 | g.81642956C>A | CA353687517 | GBE1 | c.817G>T (p.Val273Leu) c.694G>T (p.Val232Leu) n.367G>T | |
| 3 | g.81642956C>G | CA353687518 | GBE1 | c.817G>C (p.Val273Leu) c.694G>C (p.Val232Leu) n.367G>C | |
| 3 | g.81642956C>T | CA353687519 | GBE1 | c.817G>A (p.Val273Ile) c.694G>A (p.Val232Ile) n.367G>A | |
| 3 | g.81642957C>A | CA434493887 | GBE1 | c.816G>T (p.Leu272=) c.693G>T (p.Leu231=) n.366G>T | |
| 3 | g.81642957C>G | CA434493888 | GBE1 | c.816G>C (p.Leu272=) c.693G>C (p.Leu231=) n.366G>C | |
| 3 | g.81642957C>T | CA434493889 | GBE1 | c.816G>A (p.Leu272=) c.693G>A (p.Leu231=) n.366G>A | |
| 3 | g.81642958A>C | CA353687520 | GBE1 | c.815T>G (p.Leu272Arg) c.692T>G (p.Leu231Arg) n.365T>G | |
| 3 | g.81642958A>G | CA353687521 | GBE1 | c.815T>C (p.Leu272Pro) c.692T>C (p.Leu231Pro) n.365T>C | gnomAD v4 |
| 3 | g.81642958A>T | CA353687522 | GBE1 | c.815T>A (p.Leu272Gln) c.692T>A (p.Leu231Gln) n.365T>A | |
| 3 | g.81642959G>A | CA434493890 | GBE1 | c.814C>T (p.Leu272=) c.691C>T (p.Leu231=) n.364C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642959G>C | CA353687523 | GBE1 | c.814C>G (p.Leu272Val) c.691C>G (p.Leu231Val) n.364C>G | |
| 3 | g.81642959G= | CA1378708642 | GBE1 | c.814C= (p.Leu272=) c.691C= (p.Leu231=) n.364C= | |
| 3 | g.81642959G>T | CA353687524 | GBE1 | c.814C>A (p.Leu272Met) c.691C>A (p.Leu231Met) n.364C>A | |
| 3 | g.81642960T>A | CA353687525 | GBE1 | c.813A>T (p.Glu271Asp) c.690A>T (p.Glu230Asp) n.363A>T | |
| 3 | g.81642960T>C | CA434493891 | GBE1 | c.813A>G (p.Glu271=) c.690A>G (p.Glu230=) n.363A>G | ClinVar |
| 3 | g.81642960T>G | CA353687526 | GBE1 | c.813A>C (p.Glu271Asp) c.690A>C (p.Glu230Asp) n.363A>C | |
| 3 | g.81642961T>A | CA353687527 | GBE1 | c.812A>T (p.Glu271Val) c.689A>T (p.Glu230Val) n.362A>T | |
| 3 | g.81642961T>C | CA353687528 | GBE1 | c.812A>G (p.Glu271Gly) c.689A>G (p.Glu230Gly) n.362A>G | |
| 3 | g.81642961T>G | CA353687529 | GBE1 | c.812A>C (p.Glu271Ala) c.689A>C (p.Glu230Ala) n.362A>C | |
| 3 | g.81642962C>A | CA353687530 | GBE1 | c.811G>T (p.Glu271Ter) c.688G>T (p.Glu230Ter) n.361G>T | ClinVar |
| 3 | g.81642962C>G | CA353687531 | GBE1 | c.811G>C (p.Glu271Gln) c.688G>C (p.Glu230Gln) n.361G>C | |
| 3 | g.81642962C>T | CA353687532 | GBE1 | c.811G>A (p.Glu271Lys) c.688G>A (p.Glu230Lys) n.361G>A | |
| 3 | g.81642962_81642963delinsAA | CA2573137464 | GBE1 | c.810_811delinsTT (p.Gln270HisfsTer2) c.687_688delinsTT (p.Gln229HisfsTer2) n.360_361delinsTT | ClinVar dbSNP |
| 3 | g.81642963T>A | CA353687533 | GBE1 | c.810A>T (p.Gln270His) c.687A>T (p.Gln229His) n.360A>T | |
| 3 | g.81642963T>C | CA2499848 | GBE1 | c.810A>G (p.Gln270=) c.687A>G (p.Gln229=) n.360A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642963T>G | CA353687534 | GBE1 | c.810A>C (p.Gln270His) c.687A>C (p.Gln229His) n.360A>C | |
| 3 | g.81642963T= | CA1378708644 | GBE1 | c.810A= (p.Gln270=) c.687A= (p.Gln229=) n.360A= | |
| 3 | g.81642964T>A | CA2499849 | GBE1 | c.809A>T (p.Gln270Leu) c.686A>T (p.Gln229Leu) n.359A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642964T>C | CA353687535 | GBE1 | c.809A>G (p.Gln270Arg) c.686A>G (p.Gln229Arg) n.359A>G | |
| 3 | g.81642964T>G | CA353687536 | GBE1 | c.809A>C (p.Gln270Pro) c.686A>C (p.Gln229Pro) n.359A>C | |
| 3 | g.81642964T= | CA1378708646 | GBE1 | c.809A= (p.Gln270=) c.686A= (p.Gln229=) n.359A= | |
| 3 | g.81642965G>A | CA353687537 | GBE1 | c.808C>T (p.Gln270Ter) c.685C>T (p.Gln229Ter) n.358C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81642965G>C | CA353687538 | GBE1 | c.808C>G (p.Gln270Glu) c.685C>G (p.Gln229Glu) n.358C>G | |
| 3 | g.81642965G= | CA1378708649 | GBE1 | c.808C= (p.Gln270=) c.685C= (p.Gln229=) n.358C= | |
| 3 | g.81642965G>T | CA2499850 | GBE1 | c.808C>A (p.Gln270Lys) c.685C>A (p.Gln229Lys) n.358C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642966T>A | CA434493893 | GBE1 | c.807A>T (p.Leu269=) c.684A>T (p.Leu228=) n.357A>T | |
| 3 | g.81642966T>C | CA2499851 | GBE1 | c.807A>G (p.Leu269=) c.684A>G (p.Leu228=) n.357A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81642966T>G | CA434493892 | GBE1 | c.807A>C (p.Leu269=) c.684A>C (p.Leu228=) n.357A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81642966T= | CA1378708653 | GBE1 | c.807A= (p.Leu269=) c.684A= (p.Leu228=) n.357A= | |
| 3 | g.81642967A>C | CA353687539 | GBE1 | c.806T>G (p.Leu269Arg) c.683T>G (p.Leu228Arg) n.356T>G | |
| 3 | g.81642967A>G | CA353687540 | GBE1 | c.806T>C (p.Leu269Pro) c.683T>C (p.Leu228Pro) n.356T>C | |
| 3 | g.81642967A>T | CA353687541 | GBE1 | c.806T>A (p.Leu269Gln) c.683T>A (p.Leu228Gln) n.356T>A | |
| 3 | g.81642967dup | CA78291839 | GBE1 | c.806dup (p.Gln270ThrfsTer?) c.683dup (p.Gln229ThrfsTer?) n.356dup | dbSNP |
| 3 | g.81642968G>A | CA434493894 | GBE1 | c.805C>T (p.Leu269=) c.682C>T (p.Leu228=) n.355C>T | ClinVar gnomAD v4 |
| 3 | g.81642968G>C | CA353687542 | GBE1 | c.805C>G (p.Leu269Val) c.682C>G (p.Leu228Val) n.355C>G | |
| 3 | g.81642968G= | CA1378708662 | GBE1 | c.805C= (p.Leu269=) c.682C= (p.Leu228=) n.355C= | |
| 3 | g.81642968G>T | CA353687543 | GBE1 | c.805C>A (p.Leu269Ile) c.682C>A (p.Leu228Ile) n.355C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81642969C>A | CA353687544 | GBE1 | c.804G>T (p.Glu268Asp) c.681G>T (p.Glu227Asp) n.354G>T | |
| 3 | g.81642969C= | CA1378708664 | GBE1 | c.804G= (p.Glu268=) c.681G= (p.Glu227=) n.354G= | |
| 3 | g.81642969C>G | CA353687545 | GBE1 | c.804G>C (p.Glu268Asp) c.681G>C (p.Glu227Asp) n.354G>C | |
| 3 | g.81642969C>T | CA434493895 | GBE1 | c.804G>A (p.Glu268=) c.681G>A (p.Glu227=) n.354G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81642970T>A | CA353687546 | GBE1 | c.803A>T (p.Glu268Val) c.680A>T (p.Glu227Val) n.353A>T | |
| 3 | g.81642970T>C | CA353687547 | GBE1 | c.803A>G (p.Glu268Gly) c.680A>G (p.Glu227Gly) n.353A>G | |
| 3 | g.81642970T>G | CA353687548 | GBE1 | c.803A>C (p.Glu268Ala) c.680A>C (p.Glu227Ala) n.353A>C | |
| 3 | g.81642971C>A | CA353687549 | GBE1 | c.802G>T (p.Glu268Ter) c.679G>T (p.Glu227Ter) n.352G>T | |
| 3 | g.81642971C= | CA1378708667 | GBE1 | c.802G= (p.Glu268=) c.679G= (p.Glu227=) n.352G= | |
| 3 | g.81642971C>G | CA353687550 | GBE1 | c.802G>C (p.Glu268Gln) c.679G>C (p.Glu227Gln) n.352G>C | ClinVar dbSNP |
| 3 | g.81642971C>T | CA353687551 | GBE1 | c.802G>A (p.Glu268Lys) c.679G>A (p.Glu227Lys) n.352G>A | |
| 3 | g.81642972T>A | CA353687552 | GBE1 | c.801A>T (p.Glu267Asp) c.678A>T (p.Glu226Asp) n.351A>T | |
| 3 | g.81642972T>C | CA434493896 | GBE1 | c.801A>G (p.Glu267=) c.678A>G (p.Glu226=) n.351A>G | |
| 3 | g.81642972T>G | CA353687553 | GBE1 | c.801A>C (p.Glu267Asp) c.678A>C (p.Glu226Asp) n.351A>C | gnomAD v4 |
| 3 | g.81642973T>A | CA353687554 | GBE1 | c.800A>T (p.Glu267Val) c.677A>T (p.Glu226Val) n.350A>T | |
| 3 | g.81642973T>C | CA353687555 | GBE1 | c.800A>G (p.Glu267Gly) c.677A>G (p.Glu226Gly) n.350A>G | |
| 3 | g.81642973T>G | CA353687556 | GBE1 | c.800A>C (p.Glu267Ala) c.677A>C (p.Glu226Ala) n.350A>C | |
| 3 | g.81642974C>A | CA353687557 | GBE1 | c.799G>T (p.Glu267Ter) c.676G>T (p.Glu226Ter) n.349G>T | |
| 3 | g.81642974C= | CA1378708670 | GBE1 | c.799G= (p.Glu267=) c.676G= (p.Glu226=) n.349G= | |
| 3 | g.81642974C>G | CA353687558 | GBE1 | c.799G>C (p.Glu267Gln) c.676G>C (p.Glu226Gln) n.349G>C | gnomAD v4 |
| 3 | g.81642974C>T | CA353687559 | GBE1 | c.799G>A (p.Glu267Lys) c.676G>A (p.Glu226Lys) n.349G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81642975A= | CA1378708672 | GBE1 | c.798T= (p.Pro266=) c.675T= (p.Pro225=) n.348T= | |
| 3 | g.81642975A>C | CA434493897 | GBE1 | c.798T>G (p.Pro266=) c.675T>G (p.Pro225=) n.348T>G | gnomAD v4 |
| 3 | g.81642975A>G | CA434493898 | GBE1 | c.798T>C (p.Pro266=) c.675T>C (p.Pro225=) n.348T>C | gnomAD v4 |
| 3 | g.81642975A>T | CA2499852 | GBE1 | c.798T>A (p.Pro266=) c.675T>A (p.Pro225=) n.348T>A | dbSNP ExAC gnomAD v2 |
| 3 | g.81642976G>A | CA353687560 | GBE1 | c.797C>T (p.Pro266Leu) c.674C>T (p.Pro225Leu) n.347C>T | dbSNP |
| 3 | g.81642976G>C | CA353687561 | GBE1 | c.797C>G (p.Pro266Arg) c.674C>G (p.Pro225Arg) n.347C>G | |
| 3 | g.81642976G= | CA1378708675 | GBE1 | c.797C= (p.Pro266=) c.674C= (p.Pro225=) n.347C= | |
| 3 | g.81642976G>T | CA353687562 | GBE1 | c.797C>A (p.Pro266His) c.674C>A (p.Pro225His) n.347C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81642977G>A | CA353687563 | GBE1 | c.796C>T (p.Pro266Ser) c.673C>T (p.Pro225Ser) n.346C>T | dbSNP gnomAD v2 |
| 3 | g.81642977G>C | CA353687564 | GBE1 | c.796C>G (p.Pro266Ala) c.673C>G (p.Pro225Ala) n.346C>G | |
| 3 | g.81642977G= | CA1378708678 | GBE1 | c.796C= (p.Pro266=) c.673C= (p.Pro225=) n.346C= | |
| 3 | g.81642977G>T | CA353687565 | GBE1 | c.796C>A (p.Pro266Thr) c.673C>A (p.Pro225Thr) n.346C>A | gnomAD v4 |
| 3 | g.81642978T>A | CA434493899 | GBE1 | c.795A>T (p.Thr265=) c.672A>T (p.Thr224=) n.345A>T | |
| 3 | g.81642978T>C | CA434493900 | GBE1 | c.795A>G (p.Thr265=) c.672A>G (p.Thr224=) n.345A>G | |
| 3 | g.81642978T>G | CA434493901 | GBE1 | c.795A>C (p.Thr265=) c.672A>C (p.Thr224=) n.345A>C | |
| 3 | g.81642979G>A | CA353687566 | GBE1 | c.794C>T (p.Thr265Ile) c.671C>T (p.Thr224Ile) n.344C>T | dbSNP |
| 3 | g.81642979G>C | CA353687568 | GBE1 | c.794C>G (p.Thr265Arg) c.671C>G (p.Thr224Arg) n.344C>G | |
| 3 | g.81642979G= | CA1378708681 | GBE1 | c.794C= (p.Thr265=) c.671C= (p.Thr224=) n.344C= | |
| 3 | g.81642979G>T | CA353687567 | GBE1 | c.794C>A (p.Thr265Lys) c.671C>A (p.Thr224Lys) n.344C>A | gnomAD v4 |
| 3 | g.81642980T>A | CA78291840 | GBE1 | c.793A>T (p.Thr265Ser) c.670A>T (p.Thr224Ser) n.343A>T | dbSNP gnomAD v4 |
| 3 | g.81642980T>C | CA2499853 | GBE1 | c.793A>G (p.Thr265Ala) c.670A>G (p.Thr224Ala) n.343A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81642980T>G | CA353687569 | GBE1 | c.793A>C (p.Thr265Pro) c.670A>C (p.Thr224Pro) n.343A>C | gnomAD v4 |
| 3 | g.81642980T= | CA1378708685 | GBE1 | c.793A= (p.Thr265=) c.670A= (p.Thr224=) n.343A= | |
| 3 | g.81642981T>A | CA434493904 | GBE1 | c.792A>T (p.Gly264=) c.669A>T (p.Gly223=) n.342A>T | ClinVar gnomAD v4 |
| 3 | g.81642981T>C | CA434493903 | GBE1 | c.792A>G (p.Gly264=) c.669A>G (p.Gly223=) n.342A>G | ClinVar dbSNP |
| 3 | g.81642981T>G | CA434493902 | GBE1 | c.792A>C (p.Gly264=) c.669A>C (p.Gly223=) n.342A>C | |
| 3 | g.81642982C>A | CA353687570 | GBE1 | c.791G>T (p.Gly264Val) c.668G>T (p.Gly223Val) n.341G>T | |
| 3 | g.81642982C= | CA1378708689 | GBE1 | c.791G= (p.Gly264=) c.668G= (p.Gly223=) n.341G= | |
| 3 | g.81642982C>G | CA353687571 | GBE1 | c.791G>C (p.Gly264Ala) c.668G>C (p.Gly223Ala) n.341G>C | ClinVar |
| 3 | g.81642982C>T | CA2499854 | GBE1 | c.791G>A (p.Gly264Glu) c.668G>A (p.Gly223Glu) n.341G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81642983C>A | CA353687572 | GBE1 | c.790G>T (p.Gly264Ter) c.667G>T (p.Gly223Ter) n.340G>T | |
| 3 | g.81642983C= | CA1378708692 | GBE1 | c.790G= (p.Gly264=) c.667G= (p.Gly223=) n.340G= | |
| 3 | g.81642983C>G | CA353687573 | GBE1 | c.790G>C (p.Gly264Arg) c.667G>C (p.Gly223Arg) n.340G>C | |
| 3 | g.81642983C>T | CA353687574 | GBE1 | c.790G>A (p.Gly264Arg) c.667G>A (p.Gly223Arg) n.340G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81642984A= | CA1378708694 | GBE1 | c.789T= (p.Tyr263=) c.666T= (p.Tyr222=) n.339T= | |
| 3 | g.81642984A>C | CA353687575 | GBE1 | c.789T>G (p.Tyr263Ter) c.666T>G (p.Tyr222Ter) n.339T>G | |
| 3 | g.81642984A>G | CA434493905 | GBE1 | c.789T>C (p.Tyr263=) c.666T>C (p.Tyr222=) n.339T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642984A>T | CA353687576 | GBE1 | c.789T>A (p.Tyr263Ter) c.666T>A (p.Tyr222Ter) n.339T>A | |
| 3 | g.81642985T>A | CA353687578 | GBE1 | c.788A>T (p.Tyr263Phe) c.665A>T (p.Tyr222Phe) n.338A>T | |
| 3 | g.81642985T>C | CA2499855 | GBE1 | c.788A>G (p.Tyr263Cys) c.665A>G (p.Tyr222Cys) n.338A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81642985T>G | CA353687577 | GBE1 | c.788A>C (p.Tyr263Ser) c.665A>C (p.Tyr222Ser) n.338A>C | |
| 3 | g.81642985T= | CA1378708698 | GBE1 | c.788A= (p.Tyr263=) c.665A= (p.Tyr222=) n.338A= | |
| 3 | g.81642985_81642986delinsTA | CA1378708699 | GBE1 | c.787_788delinsTA (p.Tyr263=) c.664_665delinsTA (p.Tyr222=) n.337_338delinsTA | |
| 3 | g.81642986A= | CA1378708703 | GBE1 | c.787T= (p.Tyr263=) c.664T= (p.Tyr222=) n.337T= | |
| 3 | g.81642986A>C | CA353687579 | GBE1 | c.787T>G (p.Tyr263Asp) c.664T>G (p.Tyr222Asp) n.337T>G | |
| 3 | g.81642986A>G | CA353687580 | GBE1 | c.787T>C (p.Tyr263His) c.664T>C (p.Tyr222His) n.337T>C | |
| 3 | g.81642986A>T | CA78291841 | GBE1 | c.787T>A (p.Tyr263Asn) c.664T>A (p.Tyr222Asn) n.337T>A | dbSNP |
| 3 | g.81642987del | CA2499856 | GBE1 | c.787del (p.Tyr263MetfsTer11) c.664del (p.Tyr222MetfsTer11) n.337del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81642987A>C | CA434493908 | GBE1 | c.786T>G (p.Arg262=) c.663T>G (p.Arg221=) n.336T>G | |
| 3 | g.81642987A>G | CA434493906 | GBE1 | c.786T>C (p.Arg262=) c.663T>C (p.Arg221=) n.336T>C | |
| 3 | g.81642987A>T | CA434493907 | GBE1 | c.786T>A (p.Arg262=) c.663T>A (p.Arg221=) n.336T>A | |
| 3 | g.81642988C>A | CA353687581 | GBE1 | c.785G>T (p.Arg262Leu) c.662G>T (p.Arg221Leu) n.335G>T | |
| 3 | g.81642988C= | CA1378708712 | GBE1 | c.785G= (p.Arg262=) c.662G= (p.Arg221=) n.335G= | |
| 3 | g.81642988C>G | CA353687582 | GBE1 | c.785G>C (p.Arg262Pro) c.662G>C (p.Arg221Pro) n.335G>C | |
| 3 | g.81642988C>T | CA2499857 | GBE1 | c.785G>A (p.Arg262His) c.662G>A (p.Arg221His) n.335G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81642989G>A | CA115764 | GBE1 | c.784C>T (p.Arg262Cys) c.661C>T (p.Arg221Cys) n.334C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81642989G>C | CA353687583 | GBE1 | c.784C>G (p.Arg262Gly) c.661C>G (p.Arg221Gly) n.334C>G | |
| 3 | g.81642989G= | CA1378708717 | GBE1 | c.784C= (p.Arg262=) c.661C= (p.Arg221=) n.334C= | |
| 3 | g.81642989G>T | CA353687584 | GBE1 | c.784C>A (p.Arg262Ser) c.661C>A (p.Arg221Ser) n.334C>A | gnomAD v4 |
| 3 | g.81642990G>A | CA434493909 | GBE1 | c.783C>T (p.Ser261=) c.660C>T (p.Ser220=) n.333C>T | gnomAD v4 |
| 3 | g.81642990G>C | CA353687585 | GBE1 | c.783C>G (p.Ser261Arg) c.660C>G (p.Ser220Arg) n.333C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642990G= | CA1378708722 | GBE1 | c.783C= (p.Ser261=) c.660C= (p.Ser220=) n.333C= | |
| 3 | g.81642990G>T | CA353687586 | GBE1 | c.783C>A (p.Ser261Arg) c.660C>A (p.Ser220Arg) n.333C>A | ClinVar gnomAD v4 |
| 3 | g.81642991C>A | CA353687588 | GBE1 | c.783-1G>T (n.783-1G>T) c.660-1G>T (n.660-1G>T) n.333-1G>T | |
| 3 | g.81642991C= | CA1378708728 | GBE1 | c.783-1G= (n.783-1G=) c.660-1G= (n.660-1G=) n.333-1G= | |
| 3 | g.81642991C>G | CA353687587 | GBE1 | c.783-1G>C (n.783-1G>C) c.660-1G>C (n.660-1G>C) n.333-1G>C | |
| 3 | g.81642991C>T | CA115742 | GBE1 | c.783-1G>A (n.783-1G>A) c.660-1G>A (n.660-1G>A) n.333-1G>A | ClinVar dbSNP |
| 3 | g.81642992_81642995dup | CA1378708726 | GBE1 | c.783-4_783-1dup (n.783-4_783-1dup) c.660-4_660-1dup (n.660-4_660-1dup) n.333-4_333-1dup | dbSNP |
| 3 | g.81642992T>A | CA353687589 | GBE1 | c.783-2A>T (n.783-2A>T) c.660-2A>T (n.660-2A>T) n.333-2A>T | |
| 3 | g.81642992T>C | CA78291842 | GBE1 | c.783-2A>G (n.783-2A>G) c.660-2A>G (n.660-2A>G) n.333-2A>G | dbSNP |
| 3 | g.81642992T>G | CA353687590 | GBE1 | c.783-2A>C (n.783-2A>C) c.660-2A>C (n.660-2A>C) n.333-2A>C | |
| 3 | g.81642992T= | CA1378708733 | GBE1 | c.783-2A= (n.783-2A=) c.660-2A= (n.660-2A=) n.333-2A= | |
| 3 | g.81642996A= | CA1378708735 | GBE1 | c.783-6T= (n.783-6T=) c.660-6T= (n.660-6T=) n.333-6T= | |
| 3 | g.81642996A>G | CA1378708736 | GBE1 | c.783-6T>C (n.783-6T>C) c.660-6T>C (n.660-6T>C) n.333-6T>C | dbSNP |
| 3 | g.81642997A= | CA1378708738 | GBE1 | c.783-7T= (n.783-7T=) c.660-7T= (n.660-7T=) n.333-7T= | |
| 3 | g.81642997A>G | CA78291843 | GBE1 | c.783-7T>C (n.783-7T>C) c.660-7T>C (n.660-7T>C) n.333-7T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81642998T>C | CA78291844 | GBE1 | c.783-8A>G (n.783-8A>G) c.660-8A>G (n.660-8A>G) n.333-8A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81642998T>G | CA911020267 | GBE1 | c.783-8A>C (n.783-8A>C) c.660-8A>C (n.660-8A>C) n.333-8A>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.81642998T= | CA1378708742 | GBE1 | c.783-8A= (n.783-8A=) c.660-8A= (n.660-8A=) n.333-8A= | |
| 3 | g.81642999G>A | CA2666623721 | GBE1 | c.783-9C>T (n.783-9C>T) c.660-9C>T (n.660-9C>T) n.333-9C>T | gnomAD v4 |
| 3 | g.81642999G>T | CA2666623722 | GBE1 | c.783-9C>A (n.783-9C>A) c.660-9C>A (n.660-9C>A) n.333-9C>A | gnomAD v4 |
| 3 | g.81643001A>G | CA2740094509 | GBE1 | c.783-11T>C (n.783-11T>C) c.660-11T>C (n.660-11T>C) n.333-11T>C | ClinVar |
| 3 | g.81643002G>A | CA544276190 | GBE1 | c.783-12C>T (n.783-12C>T) c.660-12C>T (n.660-12C>T) n.333-12C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81643002G= | CA1378708743 | GBE1 | c.783-12C= (n.783-12C=) c.660-12C= (n.660-12C=) n.333-12C= | |
| 3 | g.81643002G>T | CA2666623723 | GBE1 | c.783-12C>A (n.783-12C>A) c.660-12C>A (n.660-12C>A) n.333-12C>A | gnomAD v4 |
| 3 | g.81643003A= | CA1378708745 | GBE1 | c.783-13T= (n.783-13T=) c.660-13T= (n.660-13T=) n.333-13T= | |
| 3 | g.81643003A>G | CA78291845 | GBE1 | c.783-13T>C (n.783-13T>C) c.660-13T>C (n.660-13T>C) n.333-13T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81643004A>G | CA2666623724 | GBE1 | c.783-14T>C (n.783-14T>C) c.660-14T>C (n.660-14T>C) n.333-14T>C | gnomAD v4 |
| 3 | g.81643005C>A | CA2666623725 | GBE1 | c.783-15G>T (n.783-15G>T) c.660-15G>T (n.660-15G>T) n.333-15G>T | gnomAD v4 |
| 3 | g.81643005C= | CA1378708747 | GBE1 | c.783-15G= (n.783-15G=) c.660-15G= (n.660-15G=) n.333-15G= | |
| 3 | g.81643005C>T | CA544276196 | GBE1 | c.783-15G>A (n.783-15G>A) c.660-15G>A (n.660-15G>A) n.333-15G>A | dbSNP gnomAD v2 gnomAD v4 |