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 |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013228_25013251dup | CA2420209171 | ARX | c.744_767dup (p.Ala256_Arg257insGluGluLeuLeuGluAspAspAla) | dbSNP |
| X | g.25013228_25013252delinsGCGTCGTCCTCCAGCAGCTCCTCCT | CA2420209169 | ARX | c.743_767delinsAGGAGGAGCTGCTGGAGGACGACGC (p.Glu248=) | |
| X | g.25013245_25013268dup | CA2693353584 | ARX | c.743_766dup (p.Asp255_Ala256insGluGluGluLeuLeuGluAspAsp) | gnomAD v4 |
| X | g.25013245_25013268del | CA641364630 | ARX | c.743_766del (p.Glu248_Asp255del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013230_25013293delinsGTCGTCCTCCAGCAGCTCCTCCTCGTCGTCCTCCAGCAGTTCCTCTTCCTCGTCCTCATCTTCT | CA2420209173 | ARX | c.702_765delinsAGAAGATGAGGACGAGGAAGAGGAACTGCTGGAGGACGACGAGGAGGAGCTGCTGGAGGACGAC (p.Glu234=) | |
| X | g.25013263_25013325dup | CA2693353589 | ARX | c.702_764dup (p.Asp254_Asp255insGluGluAspGluAspGluGluGluGluLeuLeuGluAspAspGluGluGluLeuLeuGluAsp) | gnomAD v4 |
| X | g.25013263_25013325del | CA658799627 | ARX | c.702_764del (p.Glu234_Asp254del) | ClinVar dbSNP gnomAD v4 |
| X | g.25013245_25013269delinsCTCCTCCTCGTCGTCCTCCAGCAGT | CA2420209177 | ARX | c.726_750delinsACTGCTGGAGGACGACGAGGAGGAG (p.Glu242=) | |
| X | g.25013251_25013274del | CA1131757043 | ARX | c.726_749del (p.Leu243_Glu250del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013249T>A | CA412612513 | ARX | c.746A>T (p.Glu249Val) | |
| X | g.25013249T>C | CA412612512 | ARX | c.746A>G (p.Glu249Gly) | |
| X | g.25013249T>G | CA412612511 | ARX | c.746A>C (p.Glu249Ala) | |
| X | g.25013250C>A | CA412612514 | ARX | c.745G>T (p.Glu249Ter) | |
| X | g.25013250C= | CA2420209181 | ARX | c.745G= (p.Glu249=) | |
| X | g.25013250C>G | CA412612515 | ARX | c.745G>C (p.Glu249Gln) | |
| X | g.25013250C>T | CA327733048 | ARX | c.745G>A (p.Glu249Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013251C>A | CA412612516 | ARX | c.744G>T (p.Glu248Asp) | gnomAD v4 |
| X | g.25013251C= | CA2420209182 | ARX | c.744G= (p.Glu248=) | |
| X | g.25013251C>G | CA412612517 | ARX | c.744G>C (p.Glu248Asp) | |
| X | g.25013251C>T | CA515947578 | ARX | c.744G>A (p.Glu248=) | dbSNP |
| X | g.25013252T>A | CA412612518 | ARX | c.743A>T (p.Glu248Val) | |
| X | g.25013252T>C | CA412612519 | ARX | c.743A>G (p.Glu248Gly) | |
| X | g.25013252T>G | CA412612520 | ARX | c.743A>C (p.Glu248Ala) | |
| X | g.25013253C>A | CA412612521 | ARX | c.742G>T (p.Glu248Ter) | |
| X | g.25013253C= | CA2420209183 | ARX | c.742G= (p.Glu248=) | |
| X | g.25013253C>G | CA412612522 | ARX | c.742G>C (p.Glu248Gln) | ClinVar dbSNP |
| X | g.25013253C>T | CA412612523 | ARX | c.742G>A (p.Glu248Lys) | |
| X | g.25013254G>A | CA515947585 | ARX | c.741C>T (p.Asp247=) | gnomAD v4 |
| X | g.25013254G>C | CA412612524 | ARX | c.741C>G (p.Asp247Glu) | dbSNP gnomAD v4 |
| X | g.25013254G= | CA2420209184 | ARX | c.741C= (p.Asp247=) | |
| X | g.25013254G>T | CA412612525 | ARX | c.741C>A (p.Asp247Glu) | gnomAD v4 |
| X | g.25013255T>A | CA412612527 | ARX | c.740A>T (p.Asp247Val) | |
| X | g.25013255T>C | CA10373883 | ARX | c.740A>G (p.Asp247Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013255T>G | CA412612526 | ARX | c.740A>C (p.Asp247Ala) | |
| X | g.25013255T= | CA2420209185 | ARX | c.740A= (p.Asp247=) | |
| X | g.25013256C>A | CA412612528 | ARX | c.739G>T (p.Asp247Tyr) | |
| X | g.25013256C= | CA2420209186 | ARX | c.739G= (p.Asp247=) | |
| X | g.25013256C>G | CA10373884 | ARX | c.739G>C (p.Asp247His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013256C>T | CA412612529 | ARX | c.739G>A (p.Asp247Asn) | dbSNP gnomAD v2 |
| X | g.25013257G>A | CA10373885 | ARX | c.738C>T (p.Asp246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013257G>C | CA412612531 | ARX | c.738C>G (p.Asp246Glu) | dbSNP gnomAD v4 |
| X | g.25013257G= | CA2420209187 | ARX | c.738C= (p.Asp246=) | |
| X | g.25013257G>T | CA412612530 | ARX | c.738C>A (p.Asp246Glu) | gnomAD v4 |
| X | g.25013258T>A | CA412612532 | ARX | c.737A>T (p.Asp246Val) | |
| X | g.25013258T>C | CA412612533 | ARX | c.737A>G (p.Asp246Gly) | dbSNP gnomAD v2 |
| X | g.25013258T>G | CA412612534 | ARX | c.737A>C (p.Asp246Ala) | |
| X | g.25013258T= | CA2420209188 | ARX | c.737A= (p.Asp246=) | |
| X | g.25013259C>A | CA412612535 | ARX | c.736G>T (p.Asp246Tyr) | gnomAD v4 |
| X | g.25013259C>G | CA412612536 | ARX | c.736G>C (p.Asp246His) | |
| X | g.25013259C>T | CA412612537 | ARX | c.736G>A (p.Asp246Asn) | |
| X | g.25013260C>A | CA412612538 | ARX | c.735G>T (p.Glu245Asp) | gnomAD v4 |
| X | g.25013260C>G | CA412612539 | ARX | c.735G>C (p.Glu245Asp) | |
| X | g.25013260C>T | CA515947597 | ARX | c.735G>A (p.Glu245=) | |
| X | g.25013261T>A | CA412612540 | ARX | c.734A>T (p.Glu245Val) | |
| X | g.25013261T>C | CA412612541 | ARX | c.734A>G (p.Glu245Gly) | |
| X | g.25013261T>G | CA412612542 | ARX | c.734A>C (p.Glu245Ala) | |
| X | g.25013262C>A | CA412612545 | ARX | c.733G>T (p.Glu245Ter) | gnomAD v4 |
| X | g.25013262C>G | CA412612543 | ARX | c.733G>C (p.Glu245Gln) | |
| X | g.25013262C>T | CA412612544 | ARX | c.733G>A (p.Glu245Lys) | |
| X | g.25013263C>A | CA515947602 | ARX | c.732G>T (p.Leu244=) | |
| X | g.25013263C= | CA2420209189 | ARX | c.732G= (p.Leu244=) | |
| X | g.25013263C>G | CA515947603 | ARX | c.732G>C (p.Leu244=) | |
| X | g.25013263C>T | CA515947604 | ARX | c.732G>A (p.Leu244=) | dbSNP |
| X | g.25013264A>C | CA412612546 | ARX | c.731T>G (p.Leu244Arg) | |
| X | g.25013264A>G | CA412612547 | ARX | c.731T>C (p.Leu244Pro) | ClinVar |
| X | g.25013264A>T | CA412612548 | ARX | c.731T>A (p.Leu244Gln) | |
| X | g.25013265G>A | CA515947605 | ARX | c.730C>T (p.Leu244=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013265G>C | CA412612549 | ARX | c.730C>G (p.Leu244Val) | |
| X | g.25013265G= | CA2420209190 | ARX | c.730C= (p.Leu244=) | |
| X | g.25013265G>T | CA412612550 | ARX | c.730C>A (p.Leu244Met) | gnomAD v4 |
| X | g.25013266C>A | CA515947609 | ARX | c.729G>T (p.Leu243=) | gnomAD v4 |
| X | g.25013266C= | CA2420209191 | ARX | c.729G= (p.Leu243=) | |
| X | g.25013266C>G | CA515947611 | ARX | c.729G>C (p.Leu243=) | |
| X | g.25013266C>T | CA515947612 | ARX | c.729G>A (p.Leu243=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013267A>C | CA412612551 | ARX | c.728T>G (p.Leu243Arg) | |
| X | g.25013267A>G | CA412612552 | ARX | c.728T>C (p.Leu243Pro) | |
| X | g.25013267A>T | CA412612553 | ARX | c.728T>A (p.Leu243Gln) | |
| X | g.25013268G>A | CA515947615 | ARX | c.727C>T (p.Leu243=) | |
| X | g.25013268G>C | CA412612554 | ARX | c.727C>G (p.Leu243Val) | |
| X | g.25013268G>T | CA412612555 | ARX | c.727C>A (p.Leu243Met) | gnomAD v4 |
| X | g.25013269T>A | CA412612557 | ARX | c.726A>T (p.Glu242Asp) | |
| X | g.25013269T>C | CA515947620 | ARX | c.726A>G (p.Glu242=) | |
| X | g.25013269T>G | CA412612556 | ARX | c.726A>C (p.Glu242Asp) | |
| X | g.25013270T>A | CA412612558 | ARX | c.725A>T (p.Glu242Val) | |
| X | g.25013270T>C | CA412612559 | ARX | c.725A>G (p.Glu242Gly) | |
| X | g.25013270T>G | CA412612560 | ARX | c.725A>C (p.Glu242Ala) | |
| X | g.25013271C>A | CA412612561 | ARX | c.724G>T (p.Glu242Ter) | |
| X | g.25013271C>G | CA412612562 | ARX | c.724G>C (p.Glu242Gln) | |
| X | g.25013271C>T | CA412612563 | ARX | c.724G>A (p.Glu242Lys) | gnomAD v4 |
| X | g.25013272C>A | CA412612564 | ARX | c.723G>T (p.Glu241Asp) | gnomAD v4 COSMIC |
| X | g.25013272C>G | CA412612565 | ARX | c.723G>C (p.Glu241Asp) | |
| X | g.25013272C>T | CA515947626 | ARX | c.723G>A (p.Glu241=) | gnomAD v4 |
| X | g.25013273T>A | CA412612566 | ARX | c.722A>T (p.Glu241Val) | |
| X | g.25013273T>C | CA412612567 | ARX | c.722A>G (p.Glu241Gly) | gnomAD v4 |
| X | g.25013273T>G | CA412612568 | ARX | c.722A>C (p.Glu241Ala) | |
| X | g.25013274C>A | CA412612571 | ARX | c.721G>T (p.Glu241Ter) | gnomAD v4 |
| X | g.25013274C>G | CA412612570 | ARX | c.721G>C (p.Glu241Gln) | |
| X | g.25013274C>T | CA412612569 | ARX | c.721G>A (p.Glu241Lys) | |
| X | g.25013275T>A | CA412612572 | ARX | c.720A>T (p.Glu240Asp) | |
| X | g.25013275T>C | CA515947633 | ARX | c.720A>G (p.Glu240=) | |
| X | g.25013275T>G | CA412612573 | ARX | c.720A>C (p.Glu240Asp) | |
| X | g.25013276T>A | CA412612574 | ARX | c.719A>T (p.Glu240Val) | |
| X | g.25013276T>C | CA412612575 | ARX | c.719A>G (p.Glu240Gly) | COSMIC |
| X | g.25013276T>G | CA412612576 | ARX | c.719A>C (p.Glu240Ala) | |
| X | g.25013277C>A | CA412612577 | ARX | c.718G>T (p.Glu240Ter) | gnomAD v4 |
| X | g.25013277C>G | CA412612578 | ARX | c.718G>C (p.Glu240Gln) | |
| X | g.25013277C>T | CA412612579 | ARX | c.718G>A (p.Glu240Lys) | gnomAD v4 COSMIC |
| X | g.25013278C>A | CA412612580 | ARX | c.717G>T (p.Glu239Asp) | |
| X | g.25013278C= | CA2420209192 | ARX | c.717G= (p.Glu239=) | |
| X | g.25013278C>G | CA412612581 | ARX | c.717G>C (p.Glu239Asp) | |
| X | g.25013278C>T | CA515947637 | ARX | c.717G>A (p.Glu239=) | ClinVar dbSNP |
| X | g.25013279T>A | CA412612582 | ARX | c.716A>T (p.Glu239Val) | |
| X | g.25013279T>C | CA412612583 | ARX | c.716A>G (p.Glu239Gly) | |
| X | g.25013279T>G | CA412612584 | ARX | c.716A>C (p.Glu239Ala) | |
| X | g.25013280C>A | CA412612586 | ARX | c.715G>T (p.Glu239Ter) | gnomAD v4 |
| X | g.25013280C>G | CA412612587 | ARX | c.715G>C (p.Glu239Gln) | |
| X | g.25013280C>T | CA412612585 | ARX | c.715G>A (p.Glu239Lys) | |
| X | g.25013281G>A | CA515947642 | ARX | c.714C>T (p.Asp238=) | ClinVar gnomAD v4 |
| X | g.25013281G>C | CA412612589 | ARX | c.714C>G (p.Asp238Glu) | ClinVar dbSNP |
| X | g.25013281G= | CA2420209193 | ARX | c.714C= (p.Asp238=) | |
| X | g.25013281G>T | CA412612588 | ARX | c.714C>A (p.Asp238Glu) | gnomAD v4 |
| X | g.25013282T>A | CA412612590 | ARX | c.713A>T (p.Asp238Val) | ClinVar |
| X | g.25013282T>C | CA412612591 | ARX | c.713A>G (p.Asp238Gly) | |
| X | g.25013282T>G | CA412612592 | ARX | c.713A>C (p.Asp238Ala) | |
| X | g.25013283C>A | CA412612593 | ARX | c.712G>T (p.Asp238Tyr) | gnomAD v4 |
| X | g.25013283C= | CA2420209194 | ARX | c.712G= (p.Asp238=) | |
| X | g.25013283C>G | CA412612594 | ARX | c.712G>C (p.Asp238His) | |
| X | g.25013283C>T | CA412612595 | ARX | c.712G>A (p.Asp238Asn) | dbSNP gnomAD v2 |
| X | g.25013284C>A | CA412612596 | ARX | c.711G>T (p.Glu237Asp) | gnomAD v4 |
| X | g.25013284C>G | CA412612597 | ARX | c.711G>C (p.Glu237Asp) | |
| X | g.25013284C>T | CA515947652 | ARX | c.711G>A (p.Glu237=) | ClinVar gnomAD v4 |
| X | g.25013285T>A | CA412612598 | ARX | c.710A>T (p.Glu237Val) | |
| X | g.25013285T>C | CA412612599 | ARX | c.710A>G (p.Glu237Gly) | gnomAD v4 |
| X | g.25013285T>G | CA412612600 | ARX | c.710A>C (p.Glu237Ala) | |
| X | g.25013286C>A | CA412612603 | ARX | c.709G>T (p.Glu237Ter) | |
| X | g.25013286C>G | CA412612601 | ARX | c.709G>C (p.Glu237Gln) | |
| X | g.25013286C>T | CA412612602 | ARX | c.709G>A (p.Glu237Lys) | |
| X | g.25013287A= | CA2420209195 | ARX | c.708T= (p.Asp236=) | |
| X | g.25013287A>C | CA412612604 | ARX | c.708T>G (p.Asp236Glu) | |
| X | g.25013287A>G | CA10373886 | ARX | c.708T>C (p.Asp236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013287A>T | CA412612605 | ARX | c.708T>A (p.Asp236Glu) | |
| X | g.25013287_25013290delinsATCT | CA2420209196 | ARX | c.705_708delinsAGAT (p.Glu235=) | |
| X | g.25013288T>A | CA412612606 | ARX | c.707A>T (p.Asp236Val) | gnomAD v4 |
| X | g.25013288T>C | CA412612607 | ARX | c.707A>G (p.Asp236Gly) | |
| X | g.25013288T>G | CA412612608 | ARX | c.707A>C (p.Asp236Ala) | |
| X | g.25013293_25013295del | CA2420209197 | ARX | c.705_707del (p.Glu235del) | dbSNP gnomAD v4 |
| X | g.25013289C>A | CA412612609 | ARX | c.706G>T (p.Asp236Tyr) | |
| X | g.25013289C= | CA2420209198 | ARX | c.706G= (p.Asp236=) | |
| X | g.25013289C>G | CA412612610 | ARX | c.706G>C (p.Asp236His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013289C>T | CA412612611 | ARX | c.706G>A (p.Asp236Asn) | |
| X | g.25013290T>A | CA412612612 | ARX | c.705A>T (p.Glu235Asp) | |
| X | g.25013290T>C | CA515947670 | ARX | c.705A>G (p.Glu235=) | |
| X | g.25013290T>G | CA412612613 | ARX | c.705A>C (p.Glu235Asp) | |
| X | g.25013291T>A | CA412612615 | ARX | c.704A>T (p.Glu235Val) | |
| X | g.25013291T>C | CA412612616 | ARX | c.704A>G (p.Glu235Gly) | |
| X | g.25013291T>G | CA412612614 | ARX | c.704A>C (p.Glu235Ala) | |
| X | g.25013292C>A | CA412612617 | ARX | c.703G>T (p.Glu235Ter) | |
| X | g.25013292C>G | CA412612618 | ARX | c.703G>C (p.Glu235Gln) | |
| X | g.25013292C>T | CA412612619 | ARX | c.703G>A (p.Glu235Lys) | COSMIC |
| X | g.25013293T>A | CA412612620 | ARX | c.702A>T (p.Glu234Asp) | |
| X | g.25013293T>C | CA515947682 | ARX | c.702A>G (p.Glu234=) | gnomAD v4 |
| X | g.25013293T>G | CA412612621 | ARX | c.702A>C (p.Glu234Asp) | |
| X | g.25013294T>A | CA412612622 | ARX | c.701A>T (p.Glu234Val) | |
| X | g.25013294T>C | CA412612623 | ARX | c.701A>G (p.Glu234Gly) | |
| X | g.25013294T>G | CA412612624 | ARX | c.701A>C (p.Glu234Ala) | |
| X | g.25013295C>A | CA412612625 | ARX | c.700G>T (p.Glu234Ter) | |
| X | g.25013295C>G | CA412612626 | ARX | c.700G>C (p.Glu234Gln) | |
| X | g.25013295C>T | CA412612627 | ARX | c.700G>A (p.Glu234Lys) | gnomAD v4 |
| X | g.25013296G>A | CA515947692 | ARX | c.699C>T (p.Asp233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013296G>C | CA412612628 | ARX | c.699C>G (p.Asp233Glu) | |
| X | g.25013296G= | CA2420209199 | ARX | c.699C= (p.Asp233=) | |
| X | g.25013296G>T | CA412612629 | ARX | c.699C>A (p.Asp233Glu) | gnomAD v4 |
| X | g.25013297T>A | CA412612632 | ARX | c.698A>T (p.Asp233Val) | |
| X | g.25013297T>C | CA412612631 | ARX | c.698A>G (p.Asp233Gly) | gnomAD v4 |
| X | g.25013297T>G | CA412612630 | ARX | c.698A>C (p.Asp233Ala) | COSMIC |
| X | g.25013298C>A | CA412612633 | ARX | c.697G>T (p.Asp233Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013298C= | CA2420209200 | ARX | c.697G= (p.Asp233=) | |
| X | g.25013298C>G | CA412612634 | ARX | c.697G>C (p.Asp233His) | gnomAD v4 |
| X | g.25013298C>T | CA412612635 | ARX | c.697G>A (p.Asp233Asn) | |
| X | g.25013299C>A | CA412612636 | ARX | c.696G>T (p.Glu232Asp) | |
| X | g.25013299C= | CA2420209201 | ARX | c.696G= (p.Glu232=) | |
| X | g.25013299C>G | CA412612637 | ARX | c.696G>C (p.Glu232Asp) | dbSNP |
| X | g.25013299C>T | CA515947700 | ARX | c.696G>A (p.Glu232=) | |
| X | g.25013300T>A | CA412612638 | ARX | c.695A>T (p.Glu232Val) | |
| X | g.25013300T>C | CA412612639 | ARX | c.695A>G (p.Glu232Gly) | |
| X | g.25013300T>G | CA412612640 | ARX | c.695A>C (p.Glu232Ala) | |
| X | g.25013301C>A | CA412612641 | ARX | c.694G>T (p.Glu232Ter) | gnomAD v4 |
| X | g.25013301C= | CA2420209202 | ARX | c.694G= (p.Glu232=) | |
| X | g.25013301C>G | CA412612642 | ARX | c.694G>C (p.Glu232Gln) | |
| X | g.25013301C>T | CA327733049 | ARX | c.694G>A (p.Glu232Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013302del | CA2545001740 | ARX | c.694del (p.Glu232ArgfsTer?) | |
| X | g.25013302C>A | CA515947710 | ARX | c.693G>T (p.Leu231=) | gnomAD v4 |
| X | g.25013302C>G | CA515947711 | ARX | c.693G>C (p.Leu231=) | gnomAD v4 |
| X | g.25013302C>T | CA515947714 | ARX | c.693G>A (p.Leu231=) | |
| X | g.25013303A>C | CA412612643 | ARX | c.692T>G (p.Leu231Arg) | |
| X | g.25013303A>G | CA412612644 | ARX | c.692T>C (p.Leu231Pro) | |
| X | g.25013303A>T | CA412612645 | ARX | c.692T>A (p.Leu231Gln) | |
| X | g.25013304G>A | CA515947720 | ARX | c.691C>T (p.Leu231=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013304G>C | CA412612647 | ARX | c.691C>G (p.Leu231Val) | |
| X | g.25013304G= | CA2420209203 | ARX | c.691C= (p.Leu231=) | |
| X | g.25013304G>T | CA412612646 | ARX | c.691C>A (p.Leu231Met) | gnomAD v4 |
| X | g.25013305C>A | CA515947732 | ARX | c.690G>T (p.Leu230=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013305C= | CA2420209204 | ARX | c.690G= (p.Leu230=) | |
| X | g.25013305C>G | CA515947734 | ARX | c.690G>C (p.Leu230=) | |
| X | g.25013305C>T | CA515947733 | ARX | c.690G>A (p.Leu230=) | |
| X | g.25013306A>C | CA412612648 | ARX | c.689T>G (p.Leu230Arg) | |
| X | g.25013306A>G | CA412612650 | ARX | c.689T>C (p.Leu230Pro) | |
| X | g.25013306A>T | CA412612649 | ARX | c.689T>A (p.Leu230Gln) | |
| X | g.25013307G>A | CA515947740 | ARX | c.688C>T (p.Leu230=) | gnomAD v4 |
| X | g.25013307G>C | CA412612651 | ARX | c.688C>G (p.Leu230Val) | |
| X | g.25013307G>T | CA412612652 | ARX | c.688C>A (p.Leu230Met) | |
| X | g.25013308C>A | CA412612653 | ARX | c.687G>T (p.Glu229Asp) | gnomAD v4 |
| X | g.25013308C= | CA2420209205 | ARX | c.687G= (p.Glu229=) | |
| X | g.25013308C>G | CA412612654 | ARX | c.687G>C (p.Glu229Asp) | |
| X | g.25013308C>T | CA515947748 | ARX | c.687G>A (p.Glu229=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013309T>A | CA412612655 | ARX | c.686A>T (p.Glu229Val) | |
| X | g.25013309T>C | CA412612656 | ARX | c.686A>G (p.Glu229Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013309T>G | CA412612657 | ARX | c.686A>C (p.Glu229Ala) | |
| X | g.25013309T= | CA2420209206 | ARX | c.686A= (p.Glu229=) | |
| X | g.25013310C>A | CA412612658 | ARX | c.685G>T (p.Glu229Ter) | gnomAD v4 |
| X | g.25013310C= | CA2420209207 | ARX | c.685G= (p.Glu229=) | |
| X | g.25013310C>G | CA412612659 | ARX | c.685G>C (p.Glu229Gln) | |
| X | g.25013310C>T | CA10373887 | ARX | c.685G>A (p.Glu229Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013311C>A | CA412612660 | ARX | c.684G>T (p.Glu228Asp) | |
| X | g.25013311C>G | CA412612661 | ARX | c.684G>C (p.Glu228Asp) | |
| X | g.25013311C>T | CA515947761 | ARX | c.684G>A (p.Glu228=) | gnomAD v4 |
| X | g.25013312T>A | CA412612662 | ARX | c.683A>T (p.Glu228Val) | |
| X | g.25013312T>C | CA412612663 | ARX | c.683A>G (p.Glu228Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013312T>G | CA412612664 | ARX | c.683A>C (p.Glu228Ala) | |
| X | g.25013312T= | CA2420209208 | ARX | c.683A= (p.Glu228=) | |
| X | g.25013313C>A | CA412612665 | ARX | c.682G>T (p.Glu228Ter) | |
| X | g.25013313C>G | CA412612666 | ARX | c.682G>C (p.Glu228Gln) | |
| X | g.25013313C>T | CA412612667 | ARX | c.682G>A (p.Glu228Lys) | |
| X | g.25013314C>A | CA412612668 | ARX | c.681G>T (p.Glu227Asp) | gnomAD v4 |
| X | g.25013314C= | CA2420209209 | ARX | c.681G= (p.Glu227=) | |
| X | g.25013314C>G | CA16609170 | ARX | c.681G>C (p.Glu227Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013314C>T | CA515947769 | ARX | c.681G>A (p.Glu227=) | ClinVar gnomAD v4 |
| X | g.25013315T>A | CA412612669 | ARX | c.680A>T (p.Glu227Val) | |
| X | g.25013315T>C | CA412612670 | ARX | c.680A>G (p.Glu227Gly) | |
| X | g.25013315T>G | CA412612671 | ARX | c.680A>C (p.Glu227Ala) | |
| X | g.25013316C>A | CA412612672 | ARX | c.679G>T (p.Glu227Ter) | |
| X | g.25013316C>G | CA412612673 | ARX | c.679G>C (p.Glu227Gln) | |
| X | g.25013316C>T | CA412612674 | ARX | c.679G>A (p.Glu227Lys) | gnomAD v4 |
| X | g.25013317G>A | CA515947780 | ARX | c.678C>T (p.Asp226=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013317G>C | CA10373888 | ARX | c.678C>G (p.Asp226Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013317G= | CA2420209210 | ARX | c.678C= (p.Asp226=) | |
| X | g.25013317G>T | CA412612675 | ARX | c.678C>A (p.Asp226Glu) | gnomAD v4 |
| X | g.25013318T>A | CA412612676 | ARX | c.677A>T (p.Asp226Val) | |
| X | g.25013318T>C | CA412612677 | ARX | c.677A>G (p.Asp226Gly) | gnomAD v4 |
| X | g.25013318T>G | CA412612678 | ARX | c.677A>C (p.Asp226Ala) | |
| X | g.25013319C>A | CA412612681 | ARX | c.676G>T (p.Asp226Tyr) | |
| X | g.25013319C>G | CA412612680 | ARX | c.676G>C (p.Asp226His) | |
| X | g.25013319C>T | CA412612679 | ARX | c.676G>A (p.Asp226Asn) | gnomAD v4 |
| X | g.25013320G>A | CA515947794 | ARX | c.675C>T (p.Asp225=) | ClinVar |
| X | g.25013320G>C | CA412612682 | ARX | c.675C>G (p.Asp225Glu) | gnomAD v4 |
| X | g.25013320G>T | CA412612683 | ARX | c.675C>A (p.Asp225Glu) | |
| X | g.25013321T>A | CA16608411 | ARX | c.674A>T (p.Asp225Val) | ClinVar dbSNP gnomAD v4 |
| X | g.25013321T>C | CA412612684 | ARX | c.674A>G (p.Asp225Gly) | |
| X | g.25013321T>G | CA412612685 | ARX | c.674A>C (p.Asp225Ala) | |
| X | g.25013321T= | CA2420209211 | ARX | c.674A= (p.Asp225=) | |
| X | g.25013322C>A | CA412612688 | ARX | c.673G>T (p.Asp225Tyr) | gnomAD v4 |
| X | g.25013322C>G | CA412612687 | ARX | c.673G>C (p.Asp225His) | |
| X | g.25013322C>T | CA412612686 | ARX | c.673G>A (p.Asp225Asn) | |
| X | g.25013323C>A | CA412612689 | ARX | c.672G>T (p.Glu224Asp) | |
| X | g.25013323C>G | CA412612690 | ARX | c.672G>C (p.Glu224Asp) | |
| X | g.25013323C>T | CA515947806 | ARX | c.672G>A (p.Glu224=) | |
| X | g.25013324T>A | CA412612691 | ARX | c.671A>T (p.Glu224Val) | |
| X | g.25013324T>C | CA412612692 | ARX | c.671A>G (p.Glu224Gly) | gnomAD v4 |
| X | g.25013324T>G | CA412612693 | ARX | c.671A>C (p.Glu224Ala) | |
| X | g.25013324T= | CA2420209212 | ARX | c.671A= (p.Glu224=) | |
| X | g.25013325C>A | CA412612694 | ARX | c.670G>T (p.Glu224Ter) | gnomAD v4 |
| X | g.25013325C= | CA2420209213 | ARX | c.670G= (p.Glu224=) | |
| X | g.25013325C>G | CA412612696 | ARX | c.670G>C (p.Glu224Gln) | dbSNP |
| X | g.25013325C>T | CA412612695 | ARX | c.670G>A (p.Glu224Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013332_25013337dup | CA10577657 | ARX | c.665_670dup (p.Thr223_Glu224insGlyThr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013326G>A | CA515947821 | ARX | c.669C>T (p.Thr223=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013326G>C | CA515947822 | ARX | c.669C>G (p.Thr223=) | ClinVar |
| X | g.25013326G= | CA2420209214 | ARX | c.669C= (p.Thr223=) | |
| X | g.25013326G>T | CA515947824 | ARX | c.669C>A (p.Thr223=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013327G>A | CA412612697 | ARX | c.668C>T (p.Thr223Ile) | |
| X | g.25013327G>C | CA412612698 | ARX | c.668C>G (p.Thr223Ser) | |
| X | g.25013327G>T | CA412612699 | ARX | c.668C>A (p.Thr223Asn) | ClinVar gnomAD v4 |
| X | g.25013328T>A | CA412612700 | ARX | c.667A>T (p.Thr223Ser) | |
| X | g.25013328T>C | CA412612701 | ARX | c.667A>G (p.Thr223Ala) | |
| X | g.25013328T>G | CA412612702 | ARX | c.667A>C (p.Thr223Pro) | |
| X | g.25013329G>A | CA515947831 | ARX | c.666C>T (p.Gly222=) | gnomAD v4 |
| X | g.25013329G>C | CA515947832 | ARX | c.666C>G (p.Gly222=) | gnomAD v4 |
| X | g.25013329G>T | CA515947833 | ARX | c.666C>A (p.Gly222=) | gnomAD v4 |
| X | g.25013330C>A | CA412612703 | ARX | c.665G>T (p.Gly222Val) | |
| X | g.25013330C>G | CA412612704 | ARX | c.665G>C (p.Gly222Ala) | |
| X | g.25013330C>T | CA412612705 | ARX | c.665G>A (p.Gly222Asp) | |
| X | g.25013331C>A | CA412612708 | ARX | c.664G>T (p.Gly222Cys) | |
| X | g.25013331C= | CA2420209215 | ARX | c.664G= (p.Gly222=) | |
| X | g.25013331C>G | CA412612707 | ARX | c.664G>C (p.Gly222Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013331C>T | CA412612706 | ARX | c.664G>A (p.Gly222Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013332G>A | CA16608870 | ARX | c.663C>T (p.Thr221=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013332G>C | CA515947837 | ARX | c.663C>G (p.Thr221=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013332G= | CA2420209216 | ARX | c.663C= (p.Thr221=) | |
| X | g.25013332G>T | CA515947841 | ARX | c.663C>A (p.Thr221=) | |
| X | g.25013333G>A | CA327733050 | ARX | c.662C>T (p.Thr221Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013333G>C | CA412612710 | ARX | c.662C>G (p.Thr221Ser) | |
| X | g.25013333G= | CA2420209217 | ARX | c.662C= (p.Thr221=) | |
| X | g.25013333G>T | CA412612709 | ARX | c.662C>A (p.Thr221Asn) | gnomAD v4 |
| X | g.25013334T>A | CA412612711 | ARX | c.661A>T (p.Thr221Ser) | |
| X | g.25013334T>C | CA224135 | ARX | c.661A>G (p.Thr221Ala) | dbSNP |
| X | g.25013334T>G | CA412612712 | ARX | c.661A>C (p.Thr221Pro) | |
| X | g.25013334T= | CA2420209218 | ARX | c.661A= (p.Thr221=) | |
| X | g.25013335G>A | CA515947854 | ARX | c.660C>T (p.Gly220=) | gnomAD v4 |
| X | g.25013335G>C | CA515947855 | ARX | c.660C>G (p.Gly220=) | |
| X | g.25013335G>T | CA515947853 | ARX | c.660C>A (p.Gly220=) | gnomAD v4 |
| X | g.25013336C>A | CA412612713 | ARX | c.659G>T (p.Gly220Val) | |
| X | g.25013336C>G | CA412612714 | ARX | c.659G>C (p.Gly220Ala) | ClinVar dbSNP gnomAD v4 |
| X | g.25013336C>T | CA412612715 | ARX | c.659G>A (p.Gly220Asp) | ClinVar gnomAD v4 |
| X | g.25013337C>A | CA412612716 | ARX | c.658G>T (p.Gly220Cys) | gnomAD v4 |
| X | g.25013337C= | CA2420209219 | ARX | c.658G= (p.Gly220=) | |
| X | g.25013337C>G | CA412612717 | ARX | c.658G>C (p.Gly220Arg) | |
| X | g.25013337C>T | CA412612718 | ARX | c.658G>A (p.Gly220Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013338A= | CA2420209220 | ARX | c.657T= (p.Gly219=) | |
| X | g.25013338A>C | CA515947866 | ARX | c.657T>G (p.Gly219=) | |
| X | g.25013338A>G | CA10373889 | ARX | c.657T>C (p.Gly219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013338A>T | CA515947865 | ARX | c.657T>A (p.Gly219=) | gnomAD v4 |
| X | g.25013339C>A | CA412612719 | ARX | c.656G>T (p.Gly219Val) | gnomAD v4 |
| X | g.25013339C>G | CA412612720 | ARX | c.656G>C (p.Gly219Ala) | |
| X | g.25013339C>T | CA412612721 | ARX | c.656G>A (p.Gly219Asp) | |
| X | g.25013340C>A | CA412612722 | ARX | c.655G>T (p.Gly219Cys) | |
| X | g.25013340C>G | CA412612724 | ARX | c.655G>C (p.Gly219Arg) | |
| X | g.25013340C>T | CA412612723 | ARX | c.655G>A (p.Gly219Ser) | gnomAD v4 |
| X | g.25013341A>C | CA515947876 | ARX | c.654T>G (p.Gly218=) | |
| X | g.25013341A>G | CA515947880 | ARX | c.654T>C (p.Gly218=) | |
| X | g.25013341A>T | CA515947879 | ARX | c.654T>A (p.Gly218=) | |
| X | g.25013342C>A | CA412612725 | ARX | c.653G>T (p.Gly218Val) | ClinVar |
| X | g.25013342C= | CA2420209221 | ARX | c.653G= (p.Gly218=) | |
| X | g.25013342C>G | CA412612726 | ARX | c.653G>C (p.Gly218Ala) | |
| X | g.25013342C>T | CA412612727 | ARX | c.653G>A (p.Gly218Asp) | dbSNP gnomAD v4 |
| X | g.25013343C>A | CA412612728 | ARX | c.652G>T (p.Gly218Cys) | |
| X | g.25013343C>G | CA412612729 | ARX | c.652G>C (p.Gly218Arg) | |
| X | g.25013343C>T | CA412612730 | ARX | c.652G>A (p.Gly218Ser) | |
| X | g.25013344C>A | CA171160 | ARX | c.651G>T (p.Ala217=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.25013344C= | CA2420209222 | ARX | c.651G= (p.Ala217=) | |
| X | g.25013344C>G | CA515947885 | ARX | c.651G>C (p.Ala217=) | |
| X | g.25013344C>T | CA515947887 | ARX | c.651G>A (p.Ala217=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013345G>A | CA412612731 | ARX | c.650C>T (p.Ala217Val) | dbSNP gnomAD v4 |
| X | g.25013345G>C | CA412612732 | ARX | c.650C>G (p.Ala217Gly) | |
| X | g.25013345G= | CA2420209223 | ARX | c.650C= (p.Ala217=) | |
| X | g.25013345G>T | CA412612733 | ARX | c.650C>A (p.Ala217Glu) | gnomAD v4 |
| X | g.25013346C>A | CA412612736 | ARX | c.649G>T (p.Ala217Ser) | gnomAD v4 |
| X | g.25013346C>G | CA412612735 | ARX | c.649G>C (p.Ala217Pro) | |
| X | g.25013346C>T | CA412612734 | ARX | c.649G>A (p.Ala217Thr) | |
| X | g.25013347A= | CA2420209224 | ARX | c.648T= (p.Ala216=) | |
| X | g.25013347A>C | CA515947900 | ARX | c.648T>G (p.Ala216=) | |
| X | g.25013347A>G | CA515947902 | ARX | c.648T>C (p.Ala216=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013347A>T | CA515947905 | ARX | c.648T>A (p.Ala216=) | gnomAD v4 |
| X | g.25013348G>A | CA412612737 | ARX | c.647C>T (p.Ala216Val) | gnomAD v4 |
| X | g.25013348G>C | CA412612738 | ARX | c.647C>G (p.Ala216Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013348G= | CA2420209225 | ARX | c.647C= (p.Ala216=) | |
| X | g.25013348G>T | CA412612739 | ARX | c.647C>A (p.Ala216Asp) | gnomAD v4 |
| X | g.25013352_25013380del | CA2695232864 | ARX | c.619_647del (p.Val207CysfsTer21) | |
| X | g.25013349C>A | CA412612740 | ARX | c.646G>T (p.Ala216Ser) | gnomAD v4 |
| X | g.25013349C>G | CA412612741 | ARX | c.646G>C (p.Ala216Pro) | |
| X | g.25013349C>T | CA412612742 | ARX | c.646G>A (p.Ala216Thr) | |
| X | g.25013354_25013365del | CA2573158498 | ARX | c.635_646del (p.Gly212_Pro215del) | ClinVar dbSNP |