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 |
|---|---|---|---|---|---|
| 9 | g.137811511A>C | CA467878101 | EHMT1 | c.2763A>C (p.Ile921=) c.2649A>C (p.Ile883=) c.2670A>C (p.Ile890=) c.2803A>C (n.2803A>C) c.657A>C (p.Ile219=) c.1620A>C (p.Ile540=) c.450A>C n.289A>C c.2754A>C (p.Ile918=) c.2745A>C (p.Ile915=) c.2772A>C (p.Ile924=) c.2769A>C (p.Ile923=) c.2751A>C (p.Ile917=) c.2694A>C (p.Ile898=) c.2628A>C (p.Ile876=) c.1194A>C (p.Ile398=) c.546A>C (p.Ile182=) c.333A>C (p.Ile111=) c.2607A>C (p.Ile869=) c.2742A>C (p.Ile914=) c.2748A>C (p.Ile916=) c.2664A>C (p.Ile888=) c.2592A>C (p.Ile864=) c.2526A>C (p.Ile842=) c.1887A>C (p.Ile629=) c.2505A>C (p.Ile835=) | |
| 9 | g.137811511A>G | CA375791417 | EHMT1 | c.2763A>G (p.Ile921Met) c.2649A>G (p.Ile883Met) c.2670A>G (p.Ile890Met) c.2803A>G (n.2803A>G) c.657A>G (p.Ile219Met) c.1620A>G (p.Ile540Met) c.450A>G n.289A>G c.2754A>G (p.Ile918Met) c.2745A>G (p.Ile915Met) c.2772A>G (p.Ile924Met) c.2769A>G (p.Ile923Met) c.2751A>G (p.Ile917Met) c.2694A>G (p.Ile898Met) c.2628A>G (p.Ile876Met) c.1194A>G (p.Ile398Met) c.546A>G (p.Ile182Met) c.333A>G (p.Ile111Met) c.2607A>G (p.Ile869Met) c.2742A>G (p.Ile914Met) c.2748A>G (p.Ile916Met) c.2664A>G (p.Ile888Met) c.2592A>G (p.Ile864Met) c.2526A>G (p.Ile842Met) c.1887A>G (p.Ile629Met) c.2505A>G (p.Ile835Met) | |
| 9 | g.137811511A>T | CA467878102 | EHMT1 | c.2763A>T (p.Ile921=) c.2649A>T (p.Ile883=) c.2670A>T (p.Ile890=) c.2803A>T (n.2803A>T) c.657A>T (p.Ile219=) c.1620A>T (p.Ile540=) c.450A>T n.289A>T c.2754A>T (p.Ile918=) c.2745A>T (p.Ile915=) c.2772A>T (p.Ile924=) c.2769A>T (p.Ile923=) c.2751A>T (p.Ile917=) c.2694A>T (p.Ile898=) c.2628A>T (p.Ile876=) c.1194A>T (p.Ile398=) c.546A>T (p.Ile182=) c.333A>T (p.Ile111=) c.2607A>T (p.Ile869=) c.2742A>T (p.Ile914=) c.2748A>T (p.Ile916=) c.2664A>T (p.Ile888=) c.2592A>T (p.Ile864=) c.2526A>T (p.Ile842=) c.1887A>T (p.Ile629=) c.2505A>T (p.Ile835=) | |
| 9 | g.137811512G>A | CA375791419 | EHMT1 | c.2764G>A (p.Ala922Thr) c.2650G>A (p.Ala884Thr) c.2671G>A (p.Ala891Thr) c.2804G>A (n.2804G>A) c.658G>A (p.Ala220Thr) c.1621G>A (p.Ala541Thr) c.451G>A n.290G>A c.2755G>A (p.Ala919Thr) c.2746G>A (p.Ala916Thr) c.2773G>A (p.Ala925Thr) c.2770G>A (p.Ala924Thr) c.2752G>A (p.Ala918Thr) c.2695G>A (p.Ala899Thr) c.2629G>A (p.Ala877Thr) c.1195G>A (p.Ala399Thr) c.547G>A (p.Ala183Thr) c.334G>A (p.Ala112Thr) c.2608G>A (p.Ala870Thr) c.2743G>A (p.Ala915Thr) c.2749G>A (p.Ala917Thr) c.2665G>A (p.Ala889Thr) c.2593G>A (p.Ala865Thr) c.2527G>A (p.Ala843Thr) c.1888G>A (p.Ala630Thr) c.2506G>A (p.Ala836Thr) | |
| 9 | g.137811512G>C | CA375791421 | EHMT1 | c.2764G>C (p.Ala922Pro) c.2650G>C (p.Ala884Pro) c.2671G>C (p.Ala891Pro) c.2804G>C (n.2804G>C) c.658G>C (p.Ala220Pro) c.1621G>C (p.Ala541Pro) c.451G>C n.290G>C c.2755G>C (p.Ala919Pro) c.2746G>C (p.Ala916Pro) c.2773G>C (p.Ala925Pro) c.2770G>C (p.Ala924Pro) c.2752G>C (p.Ala918Pro) c.2695G>C (p.Ala899Pro) c.2629G>C (p.Ala877Pro) c.1195G>C (p.Ala399Pro) c.547G>C (p.Ala183Pro) c.334G>C (p.Ala112Pro) c.2608G>C (p.Ala870Pro) c.2743G>C (p.Ala915Pro) c.2749G>C (p.Ala917Pro) c.2665G>C (p.Ala889Pro) c.2593G>C (p.Ala865Pro) c.2527G>C (p.Ala843Pro) c.1888G>C (p.Ala630Pro) c.2506G>C (p.Ala836Pro) | |
| 9 | g.137811512G>T | CA375791423 | EHMT1 | c.2764G>T (p.Ala922Ser) c.2650G>T (p.Ala884Ser) c.2671G>T (p.Ala891Ser) c.2804G>T (n.2804G>T) c.658G>T (p.Ala220Ser) c.1621G>T (p.Ala541Ser) c.451G>T n.290G>T c.2755G>T (p.Ala919Ser) c.2746G>T (p.Ala916Ser) c.2773G>T (p.Ala925Ser) c.2770G>T (p.Ala924Ser) c.2752G>T (p.Ala918Ser) c.2695G>T (p.Ala899Ser) c.2629G>T (p.Ala877Ser) c.1195G>T (p.Ala399Ser) c.547G>T (p.Ala183Ser) c.334G>T (p.Ala112Ser) c.2608G>T (p.Ala870Ser) c.2743G>T (p.Ala915Ser) c.2749G>T (p.Ala917Ser) c.2665G>T (p.Ala889Ser) c.2593G>T (p.Ala865Ser) c.2527G>T (p.Ala843Ser) c.1888G>T (p.Ala630Ser) c.2506G>T (p.Ala836Ser) | gnomAD v4 |
| 9 | g.137811513C>A | CA375791436 | EHMT1 | c.2765C>A (p.Ala922Asp) c.2651C>A (p.Ala884Asp) c.2672C>A (p.Ala891Asp) c.2805C>A (n.2805C>A) c.659C>A (p.Ala220Asp) c.1622C>A (p.Ala541Asp) c.452C>A n.291C>A c.2756C>A (p.Ala919Asp) c.2747C>A (p.Ala916Asp) c.2774C>A (p.Ala925Asp) c.2771C>A (p.Ala924Asp) c.2753C>A (p.Ala918Asp) c.2696C>A (p.Ala899Asp) c.2630C>A (p.Ala877Asp) c.1196C>A (p.Ala399Asp) c.548C>A (p.Ala183Asp) c.335C>A (p.Ala112Asp) c.2609C>A (p.Ala870Asp) c.2744C>A (p.Ala915Asp) c.2750C>A (p.Ala917Asp) c.2666C>A (p.Ala889Asp) c.2594C>A (p.Ala865Asp) c.2528C>A (p.Ala843Asp) c.1889C>A (p.Ala630Asp) c.2507C>A (p.Ala836Asp) | |
| 9 | g.137811513C>G | CA375791432 | EHMT1 | c.2765C>G (p.Ala922Gly) c.2651C>G (p.Ala884Gly) c.2672C>G (p.Ala891Gly) c.2805C>G (n.2805C>G) c.659C>G (p.Ala220Gly) c.1622C>G (p.Ala541Gly) c.452C>G n.291C>G c.2756C>G (p.Ala919Gly) c.2747C>G (p.Ala916Gly) c.2774C>G (p.Ala925Gly) c.2771C>G (p.Ala924Gly) c.2753C>G (p.Ala918Gly) c.2696C>G (p.Ala899Gly) c.2630C>G (p.Ala877Gly) c.1196C>G (p.Ala399Gly) c.548C>G (p.Ala183Gly) c.335C>G (p.Ala112Gly) c.2609C>G (p.Ala870Gly) c.2744C>G (p.Ala915Gly) c.2750C>G (p.Ala917Gly) c.2666C>G (p.Ala889Gly) c.2594C>G (p.Ala865Gly) c.2528C>G (p.Ala843Gly) c.1889C>G (p.Ala630Gly) c.2507C>G (p.Ala836Gly) | |
| 9 | g.137811513C>T | CA375791430 | EHMT1 | c.2765C>T (p.Ala922Val) c.2651C>T (p.Ala884Val) c.2672C>T (p.Ala891Val) c.2805C>T (n.2805C>T) c.659C>T (p.Ala220Val) c.1622C>T (p.Ala541Val) c.452C>T n.291C>T c.2756C>T (p.Ala919Val) c.2747C>T (p.Ala916Val) c.2774C>T (p.Ala925Val) c.2771C>T (p.Ala924Val) c.2753C>T (p.Ala918Val) c.2696C>T (p.Ala899Val) c.2630C>T (p.Ala877Val) c.1196C>T (p.Ala399Val) c.548C>T (p.Ala183Val) c.335C>T (p.Ala112Val) c.2609C>T (p.Ala870Val) c.2744C>T (p.Ala915Val) c.2750C>T (p.Ala917Val) c.2666C>T (p.Ala889Val) c.2594C>T (p.Ala865Val) c.2528C>T (p.Ala843Val) c.1889C>T (p.Ala630Val) c.2507C>T (p.Ala836Val) | |
| 9 | g.137811514C>A | CA467878103 | EHMT1 | c.2766C>A (p.Ala922=) c.2652C>A (p.Ala884=) c.2673C>A (p.Ala891=) c.2806C>A (n.2806C>A) c.660C>A (p.Ala220=) c.1623C>A (p.Ala541=) c.453C>A n.292C>A c.2757C>A (p.Ala919=) c.2748C>A (p.Ala916=) c.2775C>A (p.Ala925=) c.2772C>A (p.Ala924=) c.2754C>A (p.Ala918=) c.2697C>A (p.Ala899=) c.2631C>A (p.Ala877=) c.1197C>A (p.Ala399=) c.549C>A (p.Ala183=) c.336C>A (p.Ala112=) c.2610C>A (p.Ala870=) c.2745C>A (p.Ala915=) c.2751C>A (p.Ala917=) c.2667C>A (p.Ala889=) c.2595C>A (p.Ala865=) c.2529C>A (p.Ala843=) c.1890C>A (p.Ala630=) c.2508C>A (p.Ala836=) | gnomAD v4 |
| 9 | g.137811514C= | CA1884684944 | EHMT1 | c.2766C= (p.Ala922=) c.2652C= (p.Ala884=) c.2673C= (p.Ala891=) c.2806C= (n.2806C=) c.660C= (p.Ala220=) c.1623C= (p.Ala541=) c.453C= n.292C= c.2757C= (p.Ala919=) c.2748C= (p.Ala916=) c.2775C= (p.Ala925=) c.2772C= (p.Ala924=) c.2754C= (p.Ala918=) c.2697C= (p.Ala899=) c.2631C= (p.Ala877=) c.1197C= (p.Ala399=) c.549C= (p.Ala183=) c.336C= (p.Ala112=) c.2610C= (p.Ala870=) c.2745C= (p.Ala915=) c.2751C= (p.Ala917=) c.2667C= (p.Ala889=) c.2595C= (p.Ala865=) c.2529C= (p.Ala843=) c.1890C= (p.Ala630=) c.2508C= (p.Ala836=) | |
| 9 | g.137811514C>G | CA467878104 | EHMT1 | c.2766C>G (p.Ala922=) c.2652C>G (p.Ala884=) c.2673C>G (p.Ala891=) c.2806C>G (n.2806C>G) c.660C>G (p.Ala220=) c.1623C>G (p.Ala541=) c.453C>G n.292C>G c.2757C>G (p.Ala919=) c.2748C>G (p.Ala916=) c.2775C>G (p.Ala925=) c.2772C>G (p.Ala924=) c.2754C>G (p.Ala918=) c.2697C>G (p.Ala899=) c.2631C>G (p.Ala877=) c.1197C>G (p.Ala399=) c.549C>G (p.Ala183=) c.336C>G (p.Ala112=) c.2610C>G (p.Ala870=) c.2745C>G (p.Ala915=) c.2751C>G (p.Ala917=) c.2667C>G (p.Ala889=) c.2595C>G (p.Ala865=) c.2529C>G (p.Ala843=) c.1890C>G (p.Ala630=) c.2508C>G (p.Ala836=) | |
| 9 | g.137811514C>T | CA5375055 | EHMT1 | c.2766C>T (p.Ala922=) c.2652C>T (p.Ala884=) c.2673C>T (p.Ala891=) c.2806C>T (n.2806C>T) c.660C>T (p.Ala220=) c.1623C>T (p.Ala541=) c.453C>T n.292C>T c.2757C>T (p.Ala919=) c.2748C>T (p.Ala916=) c.2775C>T (p.Ala925=) c.2772C>T (p.Ala924=) c.2754C>T (p.Ala918=) c.2697C>T (p.Ala899=) c.2631C>T (p.Ala877=) c.1197C>T (p.Ala399=) c.549C>T (p.Ala183=) c.336C>T (p.Ala112=) c.2610C>T (p.Ala870=) c.2745C>T (p.Ala915=) c.2751C>T (p.Ala917=) c.2667C>T (p.Ala889=) c.2595C>T (p.Ala865=) c.2529C>T (p.Ala843=) c.1890C>T (p.Ala630=) c.2508C>T (p.Ala836=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137811515G>A | CA5375056 | EHMT1 | c.2767G>A (p.Glu923Lys) c.2653G>A (p.Glu885Lys) c.2674G>A (p.Glu892Lys) c.2807G>A (n.2807G>A) c.661G>A (p.Glu221Lys) c.1624G>A (p.Glu542Lys) c.454G>A n.293G>A c.2758G>A (p.Glu920Lys) c.2749G>A (p.Glu917Lys) c.2776G>A (p.Glu926Lys) c.2773G>A (p.Glu925Lys) c.2755G>A (p.Glu919Lys) c.2698G>A (p.Glu900Lys) c.2632G>A (p.Glu878Lys) c.1198G>A (p.Glu400Lys) c.550G>A (p.Glu184Lys) c.337G>A (p.Glu113Lys) c.2611G>A (p.Glu871Lys) c.2746G>A (p.Glu916Lys) c.2752G>A (p.Glu918Lys) c.2668G>A (p.Glu890Lys) c.2596G>A (p.Glu866Lys) c.2530G>A (p.Glu844Lys) c.1891G>A (p.Glu631Lys) c.2509G>A (p.Glu837Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137811515G>C | CA375791440 | EHMT1 | c.2767G>C (p.Glu923Gln) c.2653G>C (p.Glu885Gln) c.2674G>C (p.Glu892Gln) c.2807G>C (n.2807G>C) c.661G>C (p.Glu221Gln) c.1624G>C (p.Glu542Gln) c.454G>C n.293G>C c.2758G>C (p.Glu920Gln) c.2749G>C (p.Glu917Gln) c.2776G>C (p.Glu926Gln) c.2773G>C (p.Glu925Gln) c.2755G>C (p.Glu919Gln) c.2698G>C (p.Glu900Gln) c.2632G>C (p.Glu878Gln) c.1198G>C (p.Glu400Gln) c.550G>C (p.Glu184Gln) c.337G>C (p.Glu113Gln) c.2611G>C (p.Glu871Gln) c.2746G>C (p.Glu916Gln) c.2752G>C (p.Glu918Gln) c.2668G>C (p.Glu890Gln) c.2596G>C (p.Glu866Gln) c.2530G>C (p.Glu844Gln) c.1891G>C (p.Glu631Gln) c.2509G>C (p.Glu837Gln) | |
| 9 | g.137811515G= | CA1884684945 | EHMT1 | c.2767G= (p.Glu923=) c.2653G= (p.Glu885=) c.2674G= (p.Glu892=) c.2807G= (n.2807G=) c.661G= (p.Glu221=) c.1624G= (p.Glu542=) c.454G= n.293G= c.2758G= (p.Glu920=) c.2749G= (p.Glu917=) c.2776G= (p.Glu926=) c.2773G= (p.Glu925=) c.2755G= (p.Glu919=) c.2698G= (p.Glu900=) c.2632G= (p.Glu878=) c.1198G= (p.Glu400=) c.550G= (p.Glu184=) c.337G= (p.Glu113=) c.2611G= (p.Glu871=) c.2746G= (p.Glu916=) c.2752G= (p.Glu918=) c.2668G= (p.Glu890=) c.2596G= (p.Glu866=) c.2530G= (p.Glu844=) c.1891G= (p.Glu631=) c.2509G= (p.Glu837=) | |
| 9 | g.137811515G>T | CA375791444 | EHMT1 | c.2767G>T (p.Glu923Ter) c.2653G>T (p.Glu885Ter) c.2674G>T (p.Glu892Ter) c.2807G>T (n.2807G>T) c.661G>T (p.Glu221Ter) c.1624G>T (p.Glu542Ter) c.454G>T n.293G>T c.2758G>T (p.Glu920Ter) c.2749G>T (p.Glu917Ter) c.2776G>T (p.Glu926Ter) c.2773G>T (p.Glu925Ter) c.2755G>T (p.Glu919Ter) c.2698G>T (p.Glu900Ter) c.2632G>T (p.Glu878Ter) c.1198G>T (p.Glu400Ter) c.550G>T (p.Glu184Ter) c.337G>T (p.Glu113Ter) c.2611G>T (p.Glu871Ter) c.2746G>T (p.Glu916Ter) c.2752G>T (p.Glu918Ter) c.2668G>T (p.Glu890Ter) c.2596G>T (p.Glu866Ter) c.2530G>T (p.Glu844Ter) c.1891G>T (p.Glu631Ter) c.2509G>T (p.Glu837Ter) | gnomAD v4 |
| 9 | g.137811516A>C | CA375791447 | EHMT1 | c.2768A>C (p.Glu923Ala) c.2654A>C (p.Glu885Ala) c.2675A>C (p.Glu892Ala) c.2808A>C (n.2808A>C) c.662A>C (p.Glu221Ala) c.1625A>C (p.Glu542Ala) c.455A>C n.294A>C c.2759A>C (p.Glu920Ala) c.2750A>C (p.Glu917Ala) c.2777A>C (p.Glu926Ala) c.2774A>C (p.Glu925Ala) c.2756A>C (p.Glu919Ala) c.2699A>C (p.Glu900Ala) c.2633A>C (p.Glu878Ala) c.1199A>C (p.Glu400Ala) c.551A>C (p.Glu184Ala) c.338A>C (p.Glu113Ala) c.2612A>C (p.Glu871Ala) c.2747A>C (p.Glu916Ala) c.2753A>C (p.Glu918Ala) c.2669A>C (p.Glu890Ala) c.2597A>C (p.Glu866Ala) c.2531A>C (p.Glu844Ala) c.1892A>C (p.Glu631Ala) c.2510A>C (p.Glu837Ala) | |
| 9 | g.137811516A>G | CA375791459 | EHMT1 | c.2768A>G (p.Glu923Gly) c.2654A>G (p.Glu885Gly) c.2675A>G (p.Glu892Gly) c.2808A>G (n.2808A>G) c.662A>G (p.Glu221Gly) c.1625A>G (p.Glu542Gly) c.455A>G n.294A>G c.2759A>G (p.Glu920Gly) c.2750A>G (p.Glu917Gly) c.2777A>G (p.Glu926Gly) c.2774A>G (p.Glu925Gly) c.2756A>G (p.Glu919Gly) c.2699A>G (p.Glu900Gly) c.2633A>G (p.Glu878Gly) c.1199A>G (p.Glu400Gly) c.551A>G (p.Glu184Gly) c.338A>G (p.Glu113Gly) c.2612A>G (p.Glu871Gly) c.2747A>G (p.Glu916Gly) c.2753A>G (p.Glu918Gly) c.2669A>G (p.Glu890Gly) c.2597A>G (p.Glu866Gly) c.2531A>G (p.Glu844Gly) c.1892A>G (p.Glu631Gly) c.2510A>G (p.Glu837Gly) | |
| 9 | g.137811516A>T | CA375791451 | EHMT1 | c.2768A>T (p.Glu923Val) c.2654A>T (p.Glu885Val) c.2675A>T (p.Glu892Val) c.2808A>T (n.2808A>T) c.662A>T (p.Glu221Val) c.1625A>T (p.Glu542Val) c.455A>T n.294A>T c.2759A>T (p.Glu920Val) c.2750A>T (p.Glu917Val) c.2777A>T (p.Glu926Val) c.2774A>T (p.Glu925Val) c.2756A>T (p.Glu919Val) c.2699A>T (p.Glu900Val) c.2633A>T (p.Glu878Val) c.1199A>T (p.Glu400Val) c.551A>T (p.Glu184Val) c.338A>T (p.Glu113Val) c.2612A>T (p.Glu871Val) c.2747A>T (p.Glu916Val) c.2753A>T (p.Glu918Val) c.2669A>T (p.Glu890Val) c.2597A>T (p.Glu866Val) c.2531A>T (p.Glu844Val) c.1892A>T (p.Glu631Val) c.2510A>T (p.Glu837Val) | gnomAD v4 |
| 9 | g.137811517G>A | CA5375057 | EHMT1 | c.2769G>A (p.Glu923=) c.2655G>A (p.Glu885=) c.2676G>A (p.Glu892=) c.2809G>A (n.2809G>A) c.663G>A (p.Glu221=) c.1626G>A (p.Glu542=) c.456G>A n.295G>A c.2760G>A (p.Glu920=) c.2751G>A (p.Glu917=) c.2778G>A (p.Glu926=) c.2775G>A (p.Glu925=) c.2757G>A (p.Glu919=) c.2700G>A (p.Glu900=) c.2634G>A (p.Glu878=) c.1200G>A (p.Glu400=) c.552G>A (p.Glu184=) c.339G>A (p.Glu113=) c.2613G>A (p.Glu871=) c.2748G>A (p.Glu916=) c.2754G>A (p.Glu918=) c.2670G>A (p.Glu890=) c.2598G>A (p.Glu866=) c.2532G>A (p.Glu844=) c.1893G>A (p.Glu631=) c.2511G>A (p.Glu837=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137811517G>C | CA375791468 | EHMT1 | c.2769G>C (p.Glu923Asp) c.2655G>C (p.Glu885Asp) c.2676G>C (p.Glu892Asp) c.2809G>C (n.2809G>C) c.663G>C (p.Glu221Asp) c.1626G>C (p.Glu542Asp) c.456G>C n.295G>C c.2760G>C (p.Glu920Asp) c.2751G>C (p.Glu917Asp) c.2778G>C (p.Glu926Asp) c.2775G>C (p.Glu925Asp) c.2757G>C (p.Glu919Asp) c.2700G>C (p.Glu900Asp) c.2634G>C (p.Glu878Asp) c.1200G>C (p.Glu400Asp) c.552G>C (p.Glu184Asp) c.339G>C (p.Glu113Asp) c.2613G>C (p.Glu871Asp) c.2748G>C (p.Glu916Asp) c.2754G>C (p.Glu918Asp) c.2670G>C (p.Glu890Asp) c.2598G>C (p.Glu866Asp) c.2532G>C (p.Glu844Asp) c.1893G>C (p.Glu631Asp) c.2511G>C (p.Glu837Asp) | |
| 9 | g.137811517G= | CA1884684946 | EHMT1 | c.2769G= (p.Glu923=) c.2655G= (p.Glu885=) c.2676G= (p.Glu892=) c.2809G= (n.2809G=) c.663G= (p.Glu221=) c.1626G= (p.Glu542=) c.456G= n.295G= c.2760G= (p.Glu920=) c.2751G= (p.Glu917=) c.2778G= (p.Glu926=) c.2775G= (p.Glu925=) c.2757G= (p.Glu919=) c.2700G= (p.Glu900=) c.2634G= (p.Glu878=) c.1200G= (p.Glu400=) c.552G= (p.Glu184=) c.339G= (p.Glu113=) c.2613G= (p.Glu871=) c.2748G= (p.Glu916=) c.2754G= (p.Glu918=) c.2670G= (p.Glu890=) c.2598G= (p.Glu866=) c.2532G= (p.Glu844=) c.1893G= (p.Glu631=) c.2511G= (p.Glu837=) | |
| 9 | g.137811517G>T | CA375791470 | EHMT1 | c.2769G>T (p.Glu923Asp) c.2655G>T (p.Glu885Asp) c.2676G>T (p.Glu892Asp) c.2809G>T (n.2809G>T) c.663G>T (p.Glu221Asp) c.1626G>T (p.Glu542Asp) c.456G>T n.295G>T c.2760G>T (p.Glu920Asp) c.2751G>T (p.Glu917Asp) c.2778G>T (p.Glu926Asp) c.2775G>T (p.Glu925Asp) c.2757G>T (p.Glu919Asp) c.2700G>T (p.Glu900Asp) c.2634G>T (p.Glu878Asp) c.1200G>T (p.Glu400Asp) c.552G>T (p.Glu184Asp) c.339G>T (p.Glu113Asp) c.2613G>T (p.Glu871Asp) c.2748G>T (p.Glu916Asp) c.2754G>T (p.Glu918Asp) c.2670G>T (p.Glu890Asp) c.2598G>T (p.Glu866Asp) c.2532G>T (p.Glu844Asp) c.1893G>T (p.Glu631Asp) c.2511G>T (p.Glu837Asp) | |
| 9 | g.137811518A>C | CA375791474 | EHMT1 | c.2770A>C (p.Ile924Leu) c.2656A>C (p.Ile886Leu) c.2677A>C (p.Ile893Leu) c.2810A>C (n.2810A>C) c.664A>C (p.Ile222Leu) c.1627A>C (p.Ile543Leu) c.457A>C n.296A>C c.2761A>C (p.Ile921Leu) c.2752A>C (p.Ile918Leu) c.2779A>C (p.Ile927Leu) c.2776A>C (p.Ile926Leu) c.2758A>C (p.Ile920Leu) c.2701A>C (p.Ile901Leu) c.2635A>C (p.Ile879Leu) c.1201A>C (p.Ile401Leu) c.553A>C (p.Ile185Leu) c.340A>C (p.Ile114Leu) c.2614A>C (p.Ile872Leu) c.2749A>C (p.Ile917Leu) c.2755A>C (p.Ile919Leu) c.2671A>C (p.Ile891Leu) c.2599A>C (p.Ile867Leu) c.2533A>C (p.Ile845Leu) c.1894A>C (p.Ile632Leu) c.2512A>C (p.Ile838Leu) | |
| 9 | g.137811518A>G | CA375791476 | EHMT1 | c.2770A>G (p.Ile924Val) c.2656A>G (p.Ile886Val) c.2677A>G (p.Ile893Val) c.2810A>G (n.2810A>G) c.664A>G (p.Ile222Val) c.1627A>G (p.Ile543Val) c.457A>G n.296A>G c.2761A>G (p.Ile921Val) c.2752A>G (p.Ile918Val) c.2779A>G (p.Ile927Val) c.2776A>G (p.Ile926Val) c.2758A>G (p.Ile920Val) c.2701A>G (p.Ile901Val) c.2635A>G (p.Ile879Val) c.1201A>G (p.Ile401Val) c.553A>G (p.Ile185Val) c.340A>G (p.Ile114Val) c.2614A>G (p.Ile872Val) c.2749A>G (p.Ile917Val) c.2755A>G (p.Ile919Val) c.2671A>G (p.Ile891Val) c.2599A>G (p.Ile867Val) c.2533A>G (p.Ile845Val) c.1894A>G (p.Ile632Val) c.2512A>G (p.Ile838Val) | |
| 9 | g.137811518A>T | CA375791478 | EHMT1 | c.2770A>T (p.Ile924Phe) c.2656A>T (p.Ile886Phe) c.2677A>T (p.Ile893Phe) c.2810A>T (n.2810A>T) c.664A>T (p.Ile222Phe) c.1627A>T (p.Ile543Phe) c.457A>T n.296A>T c.2761A>T (p.Ile921Phe) c.2752A>T (p.Ile918Phe) c.2779A>T (p.Ile927Phe) c.2776A>T (p.Ile926Phe) c.2758A>T (p.Ile920Phe) c.2701A>T (p.Ile901Phe) c.2635A>T (p.Ile879Phe) c.1201A>T (p.Ile401Phe) c.553A>T (p.Ile185Phe) c.340A>T (p.Ile114Phe) c.2614A>T (p.Ile872Phe) c.2749A>T (p.Ile917Phe) c.2755A>T (p.Ile919Phe) c.2671A>T (p.Ile891Phe) c.2599A>T (p.Ile867Phe) c.2533A>T (p.Ile845Phe) c.1894A>T (p.Ile632Phe) c.2512A>T (p.Ile838Phe) | |
| 9 | g.137811519T>A | CA375791480 | EHMT1 | c.2771T>A (p.Ile924Asn) c.2657T>A (p.Ile886Asn) c.2678T>A (p.Ile893Asn) c.2811T>A (n.2811T>A) c.665T>A (p.Ile222Asn) c.1628T>A (p.Ile543Asn) c.458T>A n.297T>A c.2762T>A (p.Ile921Asn) c.2753T>A (p.Ile918Asn) c.2780T>A (p.Ile927Asn) c.2777T>A (p.Ile926Asn) c.2759T>A (p.Ile920Asn) c.2702T>A (p.Ile901Asn) c.2636T>A (p.Ile879Asn) c.1202T>A (p.Ile401Asn) c.554T>A (p.Ile185Asn) c.341T>A (p.Ile114Asn) c.2615T>A (p.Ile872Asn) c.2750T>A (p.Ile917Asn) c.2756T>A (p.Ile919Asn) c.2672T>A (p.Ile891Asn) c.2600T>A (p.Ile867Asn) c.2534T>A (p.Ile845Asn) c.1895T>A (p.Ile632Asn) c.2513T>A (p.Ile838Asn) | |
| 9 | g.137811519T>C | CA375791481 | EHMT1 | c.2771T>C (p.Ile924Thr) c.2657T>C (p.Ile886Thr) c.2678T>C (p.Ile893Thr) c.2811T>C (n.2811T>C) c.665T>C (p.Ile222Thr) c.1628T>C (p.Ile543Thr) c.458T>C n.297T>C c.2762T>C (p.Ile921Thr) c.2753T>C (p.Ile918Thr) c.2780T>C (p.Ile927Thr) c.2777T>C (p.Ile926Thr) c.2759T>C (p.Ile920Thr) c.2702T>C (p.Ile901Thr) c.2636T>C (p.Ile879Thr) c.1202T>C (p.Ile401Thr) c.554T>C (p.Ile185Thr) c.341T>C (p.Ile114Thr) c.2615T>C (p.Ile872Thr) c.2750T>C (p.Ile917Thr) c.2756T>C (p.Ile919Thr) c.2672T>C (p.Ile891Thr) c.2600T>C (p.Ile867Thr) c.2534T>C (p.Ile845Thr) c.1895T>C (p.Ile632Thr) c.2513T>C (p.Ile838Thr) | gnomAD v4 |
| 9 | g.137811519T>G | CA375791482 | EHMT1 | c.2771T>G (p.Ile924Ser) c.2657T>G (p.Ile886Ser) c.2678T>G (p.Ile893Ser) c.2811T>G (n.2811T>G) c.665T>G (p.Ile222Ser) c.1628T>G (p.Ile543Ser) c.458T>G n.297T>G c.2762T>G (p.Ile921Ser) c.2753T>G (p.Ile918Ser) c.2780T>G (p.Ile927Ser) c.2777T>G (p.Ile926Ser) c.2759T>G (p.Ile920Ser) c.2702T>G (p.Ile901Ser) c.2636T>G (p.Ile879Ser) c.1202T>G (p.Ile401Ser) c.554T>G (p.Ile185Ser) c.341T>G (p.Ile114Ser) c.2615T>G (p.Ile872Ser) c.2750T>G (p.Ile917Ser) c.2756T>G (p.Ile919Ser) c.2672T>G (p.Ile891Ser) c.2600T>G (p.Ile867Ser) c.2534T>G (p.Ile845Ser) c.1895T>G (p.Ile632Ser) c.2513T>G (p.Ile838Ser) | |
| 9 | g.137811520C>A | CA467878105 | EHMT1 | c.2772C>A (p.Ile924=) c.2658C>A (p.Ile886=) c.2679C>A (p.Ile893=) c.2812C>A (n.2812C>A) c.666C>A (p.Ile222=) c.1629C>A (p.Ile543=) c.459C>A n.298C>A c.2763C>A (p.Ile921=) c.2754C>A (p.Ile918=) c.2781C>A (p.Ile927=) c.2778C>A (p.Ile926=) c.2760C>A (p.Ile920=) c.2703C>A (p.Ile901=) c.2637C>A (p.Ile879=) c.1203C>A (p.Ile401=) c.555C>A (p.Ile185=) c.342C>A (p.Ile114=) c.2616C>A (p.Ile872=) c.2751C>A (p.Ile917=) c.2757C>A (p.Ile919=) c.2673C>A (p.Ile891=) c.2601C>A (p.Ile867=) c.2535C>A (p.Ile845=) c.1896C>A (p.Ile632=) c.2514C>A (p.Ile838=) | gnomAD v4 |
| 9 | g.137811520C= | CA1884684947 | EHMT1 | c.2772C= (p.Ile924=) c.2658C= (p.Ile886=) c.2679C= (p.Ile893=) c.2812C= (n.2812C=) c.666C= (p.Ile222=) c.1629C= (p.Ile543=) c.459C= n.298C= c.2763C= (p.Ile921=) c.2754C= (p.Ile918=) c.2781C= (p.Ile927=) c.2778C= (p.Ile926=) c.2760C= (p.Ile920=) c.2703C= (p.Ile901=) c.2637C= (p.Ile879=) c.1203C= (p.Ile401=) c.555C= (p.Ile185=) c.342C= (p.Ile114=) c.2616C= (p.Ile872=) c.2751C= (p.Ile917=) c.2757C= (p.Ile919=) c.2673C= (p.Ile891=) c.2601C= (p.Ile867=) c.2535C= (p.Ile845=) c.1896C= (p.Ile632=) c.2514C= (p.Ile838=) | |
| 9 | g.137811520C>G | CA5375059 | EHMT1 | c.2772C>G (p.Ile924Met) c.2658C>G (p.Ile886Met) c.2679C>G (p.Ile893Met) c.2812C>G (n.2812C>G) c.666C>G (p.Ile222Met) c.1629C>G (p.Ile543Met) c.459C>G n.298C>G c.2763C>G (p.Ile921Met) c.2754C>G (p.Ile918Met) c.2781C>G (p.Ile927Met) c.2778C>G (p.Ile926Met) c.2760C>G (p.Ile920Met) c.2703C>G (p.Ile901Met) c.2637C>G (p.Ile879Met) c.1203C>G (p.Ile401Met) c.555C>G (p.Ile185Met) c.342C>G (p.Ile114Met) c.2616C>G (p.Ile872Met) c.2751C>G (p.Ile917Met) c.2757C>G (p.Ile919Met) c.2673C>G (p.Ile891Met) c.2601C>G (p.Ile867Met) c.2535C>G (p.Ile845Met) c.1896C>G (p.Ile632Met) c.2514C>G (p.Ile838Met) | dbSNP ExAC gnomAD v2 |
| 9 | g.137811520C>T | CA5375058 | EHMT1 | c.2772C>T (p.Ile924=) c.2658C>T (p.Ile886=) c.2679C>T (p.Ile893=) c.2812C>T (n.2812C>T) c.666C>T (p.Ile222=) c.1629C>T (p.Ile543=) c.459C>T n.298C>T c.2763C>T (p.Ile921=) c.2754C>T (p.Ile918=) c.2781C>T (p.Ile927=) c.2778C>T (p.Ile926=) c.2760C>T (p.Ile920=) c.2703C>T (p.Ile901=) c.2637C>T (p.Ile879=) c.1203C>T (p.Ile401=) c.555C>T (p.Ile185=) c.342C>T (p.Ile114=) c.2616C>T (p.Ile872=) c.2751C>T (p.Ile917=) c.2757C>T (p.Ile919=) c.2673C>T (p.Ile891=) c.2601C>T (p.Ile867=) c.2535C>T (p.Ile845=) c.1896C>T (p.Ile632=) c.2514C>T (p.Ile838=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.137811521C>A | CA375791499 | EHMT1 | c.2773C>A (p.Leu925Met) c.2659C>A (p.Leu887Met) c.2680C>A (p.Leu894Met) c.2813C>A (n.2813C>A) c.667C>A (p.Leu223Met) c.1630C>A (p.Leu544Met) c.460C>A n.299C>A c.2764C>A (p.Leu922Met) c.2755C>A (p.Leu919Met) c.2782C>A (p.Leu928Met) c.2779C>A (p.Leu927Met) c.2761C>A (p.Leu921Met) c.2704C>A (p.Leu902Met) c.2638C>A (p.Leu880Met) c.1204C>A (p.Leu402Met) c.556C>A (p.Leu186Met) c.343C>A (p.Leu115Met) c.2617C>A (p.Leu873Met) c.2752C>A (p.Leu918Met) c.2758C>A (p.Leu920Met) c.2674C>A (p.Leu892Met) c.2602C>A (p.Leu868Met) c.2536C>A (p.Leu846Met) c.1897C>A (p.Leu633Met) c.2515C>A (p.Leu839Met) | |
| 9 | g.137811521C>G | CA375791493 | EHMT1 | c.2773C>G (p.Leu925Val) c.2659C>G (p.Leu887Val) c.2680C>G (p.Leu894Val) c.2813C>G (n.2813C>G) c.667C>G (p.Leu223Val) c.1630C>G (p.Leu544Val) c.460C>G n.299C>G c.2764C>G (p.Leu922Val) c.2755C>G (p.Leu919Val) c.2782C>G (p.Leu928Val) c.2779C>G (p.Leu927Val) c.2761C>G (p.Leu921Val) c.2704C>G (p.Leu902Val) c.2638C>G (p.Leu880Val) c.1204C>G (p.Leu402Val) c.556C>G (p.Leu186Val) c.343C>G (p.Leu115Val) c.2617C>G (p.Leu873Val) c.2752C>G (p.Leu918Val) c.2758C>G (p.Leu920Val) c.2674C>G (p.Leu892Val) c.2602C>G (p.Leu868Val) c.2536C>G (p.Leu846Val) c.1897C>G (p.Leu633Val) c.2515C>G (p.Leu839Val) | |
| 9 | g.137811521C>T | CA467878106 | EHMT1 | c.2773C>T (p.Leu925=) c.2659C>T (p.Leu887=) c.2680C>T (p.Leu894=) c.2813C>T (n.2813C>T) c.667C>T (p.Leu223=) c.1630C>T (p.Leu544=) c.460C>T n.299C>T c.2764C>T (p.Leu922=) c.2755C>T (p.Leu919=) c.2782C>T (p.Leu928=) c.2779C>T (p.Leu927=) c.2761C>T (p.Leu921=) c.2704C>T (p.Leu902=) c.2638C>T (p.Leu880=) c.1204C>T (p.Leu402=) c.556C>T (p.Leu186=) c.343C>T (p.Leu115=) c.2617C>T (p.Leu873=) c.2752C>T (p.Leu918=) c.2758C>T (p.Leu920=) c.2674C>T (p.Leu892=) c.2602C>T (p.Leu868=) c.2536C>T (p.Leu846=) c.1897C>T (p.Leu633=) c.2515C>T (p.Leu839=) | |
| 9 | g.137811522T>A | CA375791506 | EHMT1 | c.2774T>A (p.Leu925Gln) c.2660T>A (p.Leu887Gln) c.2681T>A (p.Leu894Gln) c.2814T>A (n.2814T>A) c.668T>A (p.Leu223Gln) c.1631T>A (p.Leu544Gln) c.461T>A n.300T>A c.2765T>A (p.Leu922Gln) c.2756T>A (p.Leu919Gln) c.2783T>A (p.Leu928Gln) c.2780T>A (p.Leu927Gln) c.2762T>A (p.Leu921Gln) c.2705T>A (p.Leu902Gln) c.2639T>A (p.Leu880Gln) c.1205T>A (p.Leu402Gln) c.557T>A (p.Leu186Gln) c.344T>A (p.Leu115Gln) c.2618T>A (p.Leu873Gln) c.2753T>A (p.Leu918Gln) c.2759T>A (p.Leu920Gln) c.2675T>A (p.Leu892Gln) c.2603T>A (p.Leu868Gln) c.2537T>A (p.Leu846Gln) c.1898T>A (p.Leu633Gln) c.2516T>A (p.Leu839Gln) | |
| 9 | g.137811522T>C | CA375791510 | EHMT1 | c.2774T>C (p.Leu925Pro) c.2660T>C (p.Leu887Pro) c.2681T>C (p.Leu894Pro) c.2814T>C (n.2814T>C) c.668T>C (p.Leu223Pro) c.1631T>C (p.Leu544Pro) c.461T>C n.300T>C c.2765T>C (p.Leu922Pro) c.2756T>C (p.Leu919Pro) c.2783T>C (p.Leu928Pro) c.2780T>C (p.Leu927Pro) c.2762T>C (p.Leu921Pro) c.2705T>C (p.Leu902Pro) c.2639T>C (p.Leu880Pro) c.1205T>C (p.Leu402Pro) c.557T>C (p.Leu186Pro) c.344T>C (p.Leu115Pro) c.2618T>C (p.Leu873Pro) c.2753T>C (p.Leu918Pro) c.2759T>C (p.Leu920Pro) c.2675T>C (p.Leu892Pro) c.2603T>C (p.Leu868Pro) c.2537T>C (p.Leu846Pro) c.1898T>C (p.Leu633Pro) c.2516T>C (p.Leu839Pro) | |
| 9 | g.137811522T>G | CA375791519 | EHMT1 | c.2774T>G (p.Leu925Arg) c.2660T>G (p.Leu887Arg) c.2681T>G (p.Leu894Arg) c.2814T>G (n.2814T>G) c.668T>G (p.Leu223Arg) c.1631T>G (p.Leu544Arg) c.461T>G n.300T>G c.2765T>G (p.Leu922Arg) c.2756T>G (p.Leu919Arg) c.2783T>G (p.Leu928Arg) c.2780T>G (p.Leu927Arg) c.2762T>G (p.Leu921Arg) c.2705T>G (p.Leu902Arg) c.2639T>G (p.Leu880Arg) c.1205T>G (p.Leu402Arg) c.557T>G (p.Leu186Arg) c.344T>G (p.Leu115Arg) c.2618T>G (p.Leu873Arg) c.2753T>G (p.Leu918Arg) c.2759T>G (p.Leu920Arg) c.2675T>G (p.Leu892Arg) c.2603T>G (p.Leu868Arg) c.2537T>G (p.Leu846Arg) c.1898T>G (p.Leu633Arg) c.2516T>G (p.Leu839Arg) | |
| 9 | g.137811523G>A | CA467878107 | EHMT1 | c.2775G>A (p.Leu925=) c.2661G>A (p.Leu887=) c.2682G>A (p.Leu894=) c.2815G>A (n.2815G>A) c.669G>A (p.Leu223=) c.1632G>A (p.Leu544=) c.462G>A n.301G>A c.2766G>A (p.Leu922=) c.2757G>A (p.Leu919=) c.2784G>A (p.Leu928=) c.2781G>A (p.Leu927=) c.2763G>A (p.Leu921=) c.2706G>A (p.Leu902=) c.2640G>A (p.Leu880=) c.1206G>A (p.Leu402=) c.558G>A (p.Leu186=) c.345G>A (p.Leu115=) c.2619G>A (p.Leu873=) c.2754G>A (p.Leu918=) c.2760G>A (p.Leu920=) c.2676G>A (p.Leu892=) c.2604G>A (p.Leu868=) c.2538G>A (p.Leu846=) c.1899G>A (p.Leu633=) c.2517G>A (p.Leu839=) | gnomAD v4 |
| 9 | g.137811523G>C | CA467878108 | EHMT1 | c.2775G>C (p.Leu925=) c.2661G>C (p.Leu887=) c.2682G>C (p.Leu894=) c.2815G>C (n.2815G>C) c.669G>C (p.Leu223=) c.1632G>C (p.Leu544=) c.462G>C n.301G>C c.2766G>C (p.Leu922=) c.2757G>C (p.Leu919=) c.2784G>C (p.Leu928=) c.2781G>C (p.Leu927=) c.2763G>C (p.Leu921=) c.2706G>C (p.Leu902=) c.2640G>C (p.Leu880=) c.1206G>C (p.Leu402=) c.558G>C (p.Leu186=) c.345G>C (p.Leu115=) c.2619G>C (p.Leu873=) c.2754G>C (p.Leu918=) c.2760G>C (p.Leu920=) c.2676G>C (p.Leu892=) c.2604G>C (p.Leu868=) c.2538G>C (p.Leu846=) c.1899G>C (p.Leu633=) c.2517G>C (p.Leu839=) | |
| 9 | g.137811523G>T | CA467878109 | EHMT1 | c.2775G>T (p.Leu925=) c.2661G>T (p.Leu887=) c.2682G>T (p.Leu894=) c.2815G>T (n.2815G>T) c.669G>T (p.Leu223=) c.1632G>T (p.Leu544=) c.462G>T n.301G>T c.2766G>T (p.Leu922=) c.2757G>T (p.Leu919=) c.2784G>T (p.Leu928=) c.2781G>T (p.Leu927=) c.2763G>T (p.Leu921=) c.2706G>T (p.Leu902=) c.2640G>T (p.Leu880=) c.1206G>T (p.Leu402=) c.558G>T (p.Leu186=) c.345G>T (p.Leu115=) c.2619G>T (p.Leu873=) c.2754G>T (p.Leu918=) c.2760G>T (p.Leu920=) c.2676G>T (p.Leu892=) c.2604G>T (p.Leu868=) c.2538G>T (p.Leu846=) c.1899G>T (p.Leu633=) c.2517G>T (p.Leu839=) | gnomAD v4 |
| 9 | g.137811524C>A | CA375791525 | EHMT1 | c.2776C>A (p.Leu926Met) c.2662C>A (p.Leu888Met) c.2683C>A (p.Leu895Met) c.2816C>A (n.2816C>A) c.670C>A (p.Leu224Met) c.1633C>A (p.Leu545Met) c.463C>A n.302C>A c.2767C>A (p.Leu923Met) c.2758C>A (p.Leu920Met) c.2785C>A (p.Leu929Met) c.2782C>A (p.Leu928Met) c.2764C>A (p.Leu922Met) c.2707C>A (p.Leu903Met) c.2641C>A (p.Leu881Met) c.1207C>A (p.Leu403Met) c.559C>A (p.Leu187Met) c.346C>A (p.Leu116Met) c.2620C>A (p.Leu874Met) c.2755C>A (p.Leu919Met) c.2761C>A (p.Leu921Met) c.2677C>A (p.Leu893Met) c.2605C>A (p.Leu869Met) c.2539C>A (p.Leu847Met) c.1900C>A (p.Leu634Met) c.2518C>A (p.Leu840Met) | |
| 9 | g.137811524C>G | CA375791527 | EHMT1 | c.2776C>G (p.Leu926Val) c.2662C>G (p.Leu888Val) c.2683C>G (p.Leu895Val) c.2816C>G (n.2816C>G) c.670C>G (p.Leu224Val) c.1633C>G (p.Leu545Val) c.463C>G n.302C>G c.2767C>G (p.Leu923Val) c.2758C>G (p.Leu920Val) c.2785C>G (p.Leu929Val) c.2782C>G (p.Leu928Val) c.2764C>G (p.Leu922Val) c.2707C>G (p.Leu903Val) c.2641C>G (p.Leu881Val) c.1207C>G (p.Leu403Val) c.559C>G (p.Leu187Val) c.346C>G (p.Leu116Val) c.2620C>G (p.Leu874Val) c.2755C>G (p.Leu919Val) c.2761C>G (p.Leu921Val) c.2677C>G (p.Leu893Val) c.2605C>G (p.Leu869Val) c.2539C>G (p.Leu847Val) c.1900C>G (p.Leu634Val) c.2518C>G (p.Leu840Val) | |
| 9 | g.137811524C>T | CA467878110 | EHMT1 | c.2776C>T (p.Leu926=) c.2662C>T (p.Leu888=) c.2683C>T (p.Leu895=) c.2816C>T (n.2816C>T) c.670C>T (p.Leu224=) c.1633C>T (p.Leu545=) c.463C>T n.302C>T c.2767C>T (p.Leu923=) c.2758C>T (p.Leu920=) c.2785C>T (p.Leu929=) c.2782C>T (p.Leu928=) c.2764C>T (p.Leu922=) c.2707C>T (p.Leu903=) c.2641C>T (p.Leu881=) c.1207C>T (p.Leu403=) c.559C>T (p.Leu187=) c.346C>T (p.Leu116=) c.2620C>T (p.Leu874=) c.2755C>T (p.Leu919=) c.2761C>T (p.Leu921=) c.2677C>T (p.Leu893=) c.2605C>T (p.Leu869=) c.2539C>T (p.Leu847=) c.1900C>T (p.Leu634=) c.2518C>T (p.Leu840=) | gnomAD v4 |
| 9 | g.137811525T>A | CA375791531 | EHMT1 | c.2777T>A (p.Leu926Gln) c.2663T>A (p.Leu888Gln) c.2684T>A (p.Leu895Gln) c.2817T>A (n.2817T>A) c.671T>A (p.Leu224Gln) c.1634T>A (p.Leu545Gln) c.464T>A n.303T>A c.2768T>A (p.Leu923Gln) c.2759T>A (p.Leu920Gln) c.2786T>A (p.Leu929Gln) c.2783T>A (p.Leu928Gln) c.2765T>A (p.Leu922Gln) c.2708T>A (p.Leu903Gln) c.2642T>A (p.Leu881Gln) c.1208T>A (p.Leu403Gln) c.560T>A (p.Leu187Gln) c.347T>A (p.Leu116Gln) c.2621T>A (p.Leu874Gln) c.2756T>A (p.Leu919Gln) c.2762T>A (p.Leu921Gln) c.2678T>A (p.Leu893Gln) c.2606T>A (p.Leu869Gln) c.2540T>A (p.Leu847Gln) c.1901T>A (p.Leu634Gln) c.2519T>A (p.Leu840Gln) | |
| 9 | g.137811525T>C | CA375791532 | EHMT1 | c.2777T>C (p.Leu926Pro) c.2663T>C (p.Leu888Pro) c.2684T>C (p.Leu895Pro) c.2817T>C (n.2817T>C) c.671T>C (p.Leu224Pro) c.1634T>C (p.Leu545Pro) c.464T>C n.303T>C c.2768T>C (p.Leu923Pro) c.2759T>C (p.Leu920Pro) c.2786T>C (p.Leu929Pro) c.2783T>C (p.Leu928Pro) c.2765T>C (p.Leu922Pro) c.2708T>C (p.Leu903Pro) c.2642T>C (p.Leu881Pro) c.1208T>C (p.Leu403Pro) c.560T>C (p.Leu187Pro) c.347T>C (p.Leu116Pro) c.2621T>C (p.Leu874Pro) c.2756T>C (p.Leu919Pro) c.2762T>C (p.Leu921Pro) c.2678T>C (p.Leu893Pro) c.2606T>C (p.Leu869Pro) c.2540T>C (p.Leu847Pro) c.1901T>C (p.Leu634Pro) c.2519T>C (p.Leu840Pro) | |
| 9 | g.137811525T>G | CA375791534 | EHMT1 | c.2777T>G (p.Leu926Arg) c.2663T>G (p.Leu888Arg) c.2684T>G (p.Leu895Arg) c.2817T>G (n.2817T>G) c.671T>G (p.Leu224Arg) c.1634T>G (p.Leu545Arg) c.464T>G n.303T>G c.2768T>G (p.Leu923Arg) c.2759T>G (p.Leu920Arg) c.2786T>G (p.Leu929Arg) c.2783T>G (p.Leu928Arg) c.2765T>G (p.Leu922Arg) c.2708T>G (p.Leu903Arg) c.2642T>G (p.Leu881Arg) c.1208T>G (p.Leu403Arg) c.560T>G (p.Leu187Arg) c.347T>G (p.Leu116Arg) c.2621T>G (p.Leu874Arg) c.2756T>G (p.Leu919Arg) c.2762T>G (p.Leu921Arg) c.2678T>G (p.Leu893Arg) c.2606T>G (p.Leu869Arg) c.2540T>G (p.Leu847Arg) c.1901T>G (p.Leu634Arg) c.2519T>G (p.Leu840Arg) | |
| 9 | g.137811526G>A | CA201841488 | EHMT1 | c.2778G>A (p.Leu926=) c.2664G>A (p.Leu888=) c.2685G>A (p.Leu895=) c.2818G>A (n.2818G>A) c.672G>A (p.Leu224=) c.1635G>A (p.Leu545=) c.465G>A n.304G>A c.2769G>A (p.Leu923=) c.2760G>A (p.Leu920=) c.2787G>A (p.Leu929=) c.2784G>A (p.Leu928=) c.2766G>A (p.Leu922=) c.2709G>A (p.Leu903=) c.2643G>A (p.Leu881=) c.1209G>A (p.Leu403=) c.561G>A (p.Leu187=) c.348G>A (p.Leu116=) c.2622G>A (p.Leu874=) c.2757G>A (p.Leu919=) c.2763G>A (p.Leu921=) c.2679G>A (p.Leu893=) c.2607G>A (p.Leu869=) c.2541G>A (p.Leu847=) c.1902G>A (p.Leu634=) c.2520G>A (p.Leu840=) | dbSNP |