X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
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.25013251_25013274del | CA1131757043 | ARX | c.726_749del (p.Leu243_Glu250del)
| dbSNP gnomAD v3 gnomAD v4 |
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 |
X | g.25013350C>A | CA515947917 | ARX | c.645G>T (p.Pro215=)
| gnomAD v3 gnomAD v4 |
X | g.25013350C>G | CA515947919 | ARX | c.645G>C (p.Pro215=)
| ClinVar |
X | g.25013350C>T | CA515947923 | ARX | c.645G>A (p.Pro215=)
| |
X | g.25013350_25013353del | CA2573158499 | ARX | c.642_645del (p.Pro215LeufsTer?)
| ClinVar dbSNP |
X | g.25013351G>A | CA412612743 | ARX | c.644C>T (p.Pro215Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013351G>C | CA412612744 | ARX | c.644C>G (p.Pro215Arg)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013351G= | CA2420209226 | ARX | c.644C= (p.Pro215=)
| |
X | g.25013351G>T | CA16608871 | ARX | c.644C>A (p.Pro215Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013354dup | CA2820100836 | ARX | c.644dup (p.Ala216GlyfsTer22)
| |
X | g.25013352G>A | CA412612745 | ARX | c.643C>T (p.Pro215Ser)
| gnomAD v4 |
X | g.25013352G>C | CA412612746 | ARX | c.643C>G (p.Pro215Ala)
| |
X | g.25013352G>T | CA412612747 | ARX | c.643C>A (p.Pro215Thr)
| |
X | g.25013352_25013381delinsGGGCGCTGCCCGGGCCGCCGGCCACGCCGA | CA2420209227 | ARX | c.614_643delinsTCGGCGTGGCCGGCGGCCCGGGCAGCGCCC (p.Leu205=)
| |
X | g.25013353G>A | CA515947931 | ARX | c.642C>T (p.Ala214=)
| |
X | g.25013353G>C | CA515947932 | ARX | c.642C>G (p.Ala214=)
| |
X | g.25013353G= | CA2420209228 | ARX | c.642C= (p.Ala214=)
| |
X | g.25013353G>T | CA327733051 | ARX | c.642C>A (p.Ala214=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013359_25013387del | CA10605871 | ARX | c.614_642del (p.Leu205ProfsTer23)
| ClinVar dbSNP |
X | g.25013354G>A | CA412612750 | ARX | c.641C>T (p.Ala214Val)
| dbSNP gnomAD v4 |
X | g.25013354G>C | CA412612748 | ARX | c.641C>G (p.Ala214Gly)
| dbSNP |
X | g.25013354G= | CA2420209229 | ARX | c.641C= (p.Ala214=)
| |
X | g.25013354G>T | CA412612749 | ARX | c.641C>A (p.Ala214Asp)
| ClinVar |
X | g.25013355C>A | CA412612751 | ARX | c.640G>T (p.Ala214Ser)
| |
X | g.25013355C>G | CA412612752 | ARX | c.640G>C (p.Ala214Pro)
| |
X | g.25013355C>T | CA412612753 | ARX | c.640G>A (p.Ala214Thr)
| gnomAD v4 |
X | g.25013356G>A | CA515947940 | ARX | c.639C>T (p.Ser213=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013356G>C | CA412612754 | ARX | c.639C>G (p.Ser213Arg)
| |
X | g.25013356G= | CA2420209230 | ARX | c.639C= (p.Ser213=)
| |
X | g.25013356G>T | CA412612755 | ARX | c.639C>A (p.Ser213Arg)
| gnomAD v4 |
X | g.25013357C>A | CA412612756 | ARX | c.638G>T (p.Ser213Ile)
| |
X | g.25013357C>G | CA412612757 | ARX | c.638G>C (p.Ser213Thr)
| |
X | g.25013357C>T | CA412612758 | ARX | c.638G>A (p.Ser213Asn)
| gnomAD v4 |
X | g.25013358T>A | CA412612759 | ARX | c.637A>T (p.Ser213Cys)
| |
X | g.25013358T>C | CA412612760 | ARX | c.637A>G (p.Ser213Gly)
| dbSNP |
X | g.25013358T>G | CA412612761 | ARX | c.637A>C (p.Ser213Arg)
| |
X | g.25013358T= | CA2420209231 | ARX | c.637A= (p.Ser213=)
| |
X | g.25013359G>A | CA515947948 | ARX | c.636C>T (p.Gly212=)
| ClinVar |
X | g.25013359G>C | CA515947956 | ARX | c.636C>G (p.Gly212=)
| |
X | g.25013359G>T | CA515947951 | ARX | c.636C>A (p.Gly212=)
| gnomAD v4 |
X | g.25013360_25013371dup | CA641364631 | ARX | c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013360C>A | CA412612764 | ARX | c.635G>T (p.Gly212Val)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013360C= | CA2420209232 | ARX | c.635G= (p.Gly212=)
| |
X | g.25013360C>G | CA412612763 | ARX | c.635G>C (p.Gly212Ala)
| |
X | g.25013360C>T | CA412612762 | ARX | c.635G>A (p.Gly212Asp)
| gnomAD v4 |
X | g.25013361C>A | CA412612765 | ARX | c.634G>T (p.Gly212Cys)
| |
X | g.25013361C>G | CA412612767 | ARX | c.634G>C (p.Gly212Arg)
| |
X | g.25013361C>T | CA412612766 | ARX | c.634G>A (p.Gly212Ser)
| |
X | g.25013362C>A | CA515947969 | ARX | c.633G>T (p.Pro211=)
| gnomAD v4 |
X | g.25013362C= | CA2420209233 | ARX | c.633G= (p.Pro211=)
| |
X | g.25013362C>G | CA515947972 | ARX | c.633G>C (p.Pro211=)
| |
X | g.25013362C>T | CA10373890 | ARX | c.633G>A (p.Pro211=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013363G>A | CA16608826 | ARX | c.632C>T (p.Pro211Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.25013363G>C | CA412612768 | ARX | c.632C>G (p.Pro211Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013363G= | CA2420209234 | ARX | c.632C= (p.Pro211=)
| |
X | g.25013363G>T | CA412612769 | ARX | c.632C>A (p.Pro211Gln)
| gnomAD v4 |
X | g.25013364G>A | CA412612770 | ARX | c.631C>T (p.Pro211Ser)
| |
X | g.25013364G>C | CA412612771 | ARX | c.631C>G (p.Pro211Ala)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013364G= | CA2420209235 | ARX | c.631C= (p.Pro211=)
| |
X | g.25013364G>T | CA412612772 | ARX | c.631C>A (p.Pro211Thr)
| gnomAD v4 |
X | g.25013365G>A | CA515947983 | ARX | c.630C>T (p.Gly210=)
| gnomAD v4 |
X | g.25013365G>C | CA515947985 | ARX | c.630C>G (p.Gly210=)
| |
X | g.25013365G>T | CA515947986 | ARX | c.630C>A (p.Gly210=)
| gnomAD v4 |
X | g.25013366C>A | CA412612773 | ARX | c.629G>T (p.Gly210Val)
| ClinVar dbSNP |
X | g.25013366C= | CA2420209236 | ARX | c.629G= (p.Gly210=)
| |
X | g.25013366C>G | CA10373891 | ARX | c.629G>C (p.Gly210Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013366C>T | CA412612774 | ARX | c.629G>A (p.Gly210Asp)
| gnomAD v4 |
X | g.25013367C>A | CA412612775 | ARX | c.628G>T (p.Gly210Cys)
| gnomAD v4 |
X | g.25013367C>G | CA412612776 | ARX | c.628G>C (p.Gly210Arg)
| gnomAD v4 |
X | g.25013367C>T | CA412612777 | ARX | c.628G>A (p.Gly210Ser)
| ClinVar gnomAD v4 |
X | g.25013368G>A | CA515947996 | ARX | c.627C>T (p.Gly209=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013368G>C | CA515947998 | ARX | c.627C>G (p.Gly209=)
| |
X | g.25013368G= | CA2420209237 | ARX | c.627C= (p.Gly209=)
| |
X | g.25013368G>T | CA515947999 | ARX | c.627C>A (p.Gly209=)
| gnomAD v4 |
X | g.25013369C>A | CA412612780 | ARX | c.626G>T (p.Gly209Val)
| |
X | g.25013369C>G | CA412612779 | ARX | c.626G>C (p.Gly209Ala)
| |
X | g.25013369C>T | CA412612778 | ARX | c.626G>A (p.Gly209Asp)
| gnomAD v4 |
X | g.25013370C>A | CA412612781 | ARX | c.625G>T (p.Gly209Cys)
| gnomAD v4 |
X | g.25013370C= | CA2420209238 | ARX | c.625G= (p.Gly209=)
| |
X | g.25013370C>G | CA171158 | ARX | c.625G>C (p.Gly209Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013370C>T | CA412612782 | ARX | c.625G>A (p.Gly209Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013371G>A | CA515948010 | ARX | c.624C>T (p.Ala208=)
| gnomAD v4 |
X | g.25013371G>C | CA515948018 | ARX | c.624C>G (p.Ala208=)
| |
X | g.25013371G>T | CA515948013 | ARX | c.624C>A (p.Ala208=)
| |