Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137812980T>CCA5375095EHMT1c.2868-26T>C (n.2868-26T>C)
c.2754-26T>C (n.2754-26T>C)
c.2775-26T>C (n.2775-26T>C)
c.2908-26T>C (n.2908-26T>C)
c.762-26T>C (n.762-26T>C)
c.1725-26T>C (n.1725-26T>C)
c.555-26T>C
n.394-26T>C
c.2859-26T>C (n.2859-26T>C)
c.2850-26T>C (n.2850-26T>C)
c.2877-26T>C (n.2877-26T>C)
c.2874-26T>C (n.2874-26T>C)
c.2856-26T>C (n.2856-26T>C)
c.2799-26T>C (n.2799-26T>C)
c.2733-26T>C (n.2733-26T>C)
c.1299-26T>C (n.1299-26T>C)
c.651-26T>C (n.651-26T>C)
c.438-26T>C (n.438-26T>C)
c.2712-26T>C (n.2712-26T>C)
c.2847-26T>C (n.2847-26T>C)
c.2853-26T>C (n.2853-26T>C)
c.2769-26T>C (n.2769-26T>C)
c.2697-26T>C (n.2697-26T>C)
c.2631-26T>C (n.2631-26T>C)
c.1992-26T>C (n.1992-26T>C)
c.2610-26T>C (n.2610-26T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137812980T=CA1884685658EHMT1c.2868-26T= (n.2868-26T=)
c.2754-26T= (n.2754-26T=)
c.2775-26T= (n.2775-26T=)
c.2908-26T= (n.2908-26T=)
c.762-26T= (n.762-26T=)
c.1725-26T= (n.1725-26T=)
c.555-26T=
n.394-26T=
c.2859-26T= (n.2859-26T=)
c.2850-26T= (n.2850-26T=)
c.2877-26T= (n.2877-26T=)
c.2874-26T= (n.2874-26T=)
c.2856-26T= (n.2856-26T=)
c.2799-26T= (n.2799-26T=)
c.2733-26T= (n.2733-26T=)
c.1299-26T= (n.1299-26T=)
c.651-26T= (n.651-26T=)
c.438-26T= (n.438-26T=)
c.2712-26T= (n.2712-26T=)
c.2847-26T= (n.2847-26T=)
c.2853-26T= (n.2853-26T=)
c.2769-26T= (n.2769-26T=)
c.2697-26T= (n.2697-26T=)
c.2631-26T= (n.2631-26T=)
c.1992-26T= (n.1992-26T=)
c.2610-26T= (n.2610-26T=)
9g.137812982G>ACA591375844EHMT1c.2868-24G>A (n.2868-24G>A)
c.2754-24G>A (n.2754-24G>A)
c.2775-24G>A (n.2775-24G>A)
c.2908-24G>A (n.2908-24G>A)
c.762-24G>A (n.762-24G>A)
c.1725-24G>A (n.1725-24G>A)
c.555-24G>A
n.394-24G>A
c.2859-24G>A (n.2859-24G>A)
c.2850-24G>A (n.2850-24G>A)
c.2877-24G>A (n.2877-24G>A)
c.2874-24G>A (n.2874-24G>A)
c.2856-24G>A (n.2856-24G>A)
c.2799-24G>A (n.2799-24G>A)
c.2733-24G>A (n.2733-24G>A)
c.1299-24G>A (n.1299-24G>A)
c.651-24G>A (n.651-24G>A)
c.438-24G>A (n.438-24G>A)
c.2712-24G>A (n.2712-24G>A)
c.2847-24G>A (n.2847-24G>A)
c.2853-24G>A (n.2853-24G>A)
c.2769-24G>A (n.2769-24G>A)
c.2697-24G>A (n.2697-24G>A)
c.2631-24G>A (n.2631-24G>A)
c.1992-24G>A (n.1992-24G>A)
c.2610-24G>A (n.2610-24G>A)
 dbSNP gnomAD v2 gnomAD v4
9g.137812982G>CCA861223873EHMT1c.2868-24G>C (n.2868-24G>C)
c.2754-24G>C (n.2754-24G>C)
c.2775-24G>C (n.2775-24G>C)
c.2908-24G>C (n.2908-24G>C)
c.762-24G>C (n.762-24G>C)
c.1725-24G>C (n.1725-24G>C)
c.555-24G>C
n.394-24G>C
c.2859-24G>C (n.2859-24G>C)
c.2850-24G>C (n.2850-24G>C)
c.2877-24G>C (n.2877-24G>C)
c.2874-24G>C (n.2874-24G>C)
c.2856-24G>C (n.2856-24G>C)
c.2799-24G>C (n.2799-24G>C)
c.2733-24G>C (n.2733-24G>C)
c.1299-24G>C (n.1299-24G>C)
c.651-24G>C (n.651-24G>C)
c.438-24G>C (n.438-24G>C)
c.2712-24G>C (n.2712-24G>C)
c.2847-24G>C (n.2847-24G>C)
c.2853-24G>C (n.2853-24G>C)
c.2769-24G>C (n.2769-24G>C)
c.2697-24G>C (n.2697-24G>C)
c.2631-24G>C (n.2631-24G>C)
c.1992-24G>C (n.1992-24G>C)
c.2610-24G>C (n.2610-24G>C)
 dbSNP gnomAD v3 gnomAD v4
9g.137812982G=CA1884685659EHMT1c.2868-24G= (n.2868-24G=)
c.2754-24G= (n.2754-24G=)
c.2775-24G= (n.2775-24G=)
c.2908-24G= (n.2908-24G=)
c.762-24G= (n.762-24G=)
c.1725-24G= (n.1725-24G=)
c.555-24G=
n.394-24G=
c.2859-24G= (n.2859-24G=)
c.2850-24G= (n.2850-24G=)
c.2877-24G= (n.2877-24G=)
c.2874-24G= (n.2874-24G=)
c.2856-24G= (n.2856-24G=)
c.2799-24G= (n.2799-24G=)
c.2733-24G= (n.2733-24G=)
c.1299-24G= (n.1299-24G=)
c.651-24G= (n.651-24G=)
c.438-24G= (n.438-24G=)
c.2712-24G= (n.2712-24G=)
c.2847-24G= (n.2847-24G=)
c.2853-24G= (n.2853-24G=)
c.2769-24G= (n.2769-24G=)
c.2697-24G= (n.2697-24G=)
c.2631-24G= (n.2631-24G=)
c.1992-24G= (n.1992-24G=)
c.2610-24G= (n.2610-24G=)
9g.137812983T>CCA2692890672EHMT1c.2868-23T>C (n.2868-23T>C)
c.2754-23T>C (n.2754-23T>C)
c.2775-23T>C (n.2775-23T>C)
c.2908-23T>C (n.2908-23T>C)
c.762-23T>C (n.762-23T>C)
c.1725-23T>C (n.1725-23T>C)
c.555-23T>C
n.394-23T>C
c.2859-23T>C (n.2859-23T>C)
c.2850-23T>C (n.2850-23T>C)
c.2877-23T>C (n.2877-23T>C)
c.2874-23T>C (n.2874-23T>C)
c.2856-23T>C (n.2856-23T>C)
c.2799-23T>C (n.2799-23T>C)
c.2733-23T>C (n.2733-23T>C)
c.1299-23T>C (n.1299-23T>C)
c.651-23T>C (n.651-23T>C)
c.438-23T>C (n.438-23T>C)
c.2712-23T>C (n.2712-23T>C)
c.2847-23T>C (n.2847-23T>C)
c.2853-23T>C (n.2853-23T>C)
c.2769-23T>C (n.2769-23T>C)
c.2697-23T>C (n.2697-23T>C)
c.2631-23T>C (n.2631-23T>C)
c.1992-23T>C (n.1992-23T>C)
c.2610-23T>C (n.2610-23T>C)
 gnomAD v4
9g.137812985G>ACA5375096EHMT1c.2868-21G>A (n.2868-21G>A)
c.2754-21G>A (n.2754-21G>A)
c.2775-21G>A (n.2775-21G>A)
c.2908-21G>A (n.2908-21G>A)
c.762-21G>A (n.762-21G>A)
c.1725-21G>A (n.1725-21G>A)
c.555-21G>A
n.394-21G>A
c.2859-21G>A (n.2859-21G>A)
c.2850-21G>A (n.2850-21G>A)
c.2877-21G>A (n.2877-21G>A)
c.2874-21G>A (n.2874-21G>A)
c.2856-21G>A (n.2856-21G>A)
c.2799-21G>A (n.2799-21G>A)
c.2733-21G>A (n.2733-21G>A)
c.1299-21G>A (n.1299-21G>A)
c.651-21G>A (n.651-21G>A)
c.438-21G>A (n.438-21G>A)
c.2712-21G>A (n.2712-21G>A)
c.2847-21G>A (n.2847-21G>A)
c.2853-21G>A (n.2853-21G>A)
c.2769-21G>A (n.2769-21G>A)
c.2697-21G>A (n.2697-21G>A)
c.2631-21G>A (n.2631-21G>A)
c.1992-21G>A (n.1992-21G>A)
c.2610-21G>A (n.2610-21G>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.137812985G=CA1884685660EHMT1c.2868-21G= (n.2868-21G=)
c.2754-21G= (n.2754-21G=)
c.2775-21G= (n.2775-21G=)
c.2908-21G= (n.2908-21G=)
c.762-21G= (n.762-21G=)
c.1725-21G= (n.1725-21G=)
c.555-21G=
n.394-21G=
c.2859-21G= (n.2859-21G=)
c.2850-21G= (n.2850-21G=)
c.2877-21G= (n.2877-21G=)
c.2874-21G= (n.2874-21G=)
c.2856-21G= (n.2856-21G=)
c.2799-21G= (n.2799-21G=)
c.2733-21G= (n.2733-21G=)
c.1299-21G= (n.1299-21G=)
c.651-21G= (n.651-21G=)
c.438-21G= (n.438-21G=)
c.2712-21G= (n.2712-21G=)
c.2847-21G= (n.2847-21G=)
c.2853-21G= (n.2853-21G=)
c.2769-21G= (n.2769-21G=)
c.2697-21G= (n.2697-21G=)
c.2631-21G= (n.2631-21G=)
c.1992-21G= (n.1992-21G=)
c.2610-21G= (n.2610-21G=)
9g.137812986C=CA1884685661EHMT1c.2868-20C= (n.2868-20C=)
c.2754-20C= (n.2754-20C=)
c.2775-20C= (n.2775-20C=)
c.2908-20C= (n.2908-20C=)
c.762-20C= (n.762-20C=)
c.1725-20C= (n.1725-20C=)
c.555-20C=
n.394-20C=
c.2859-20C= (n.2859-20C=)
c.2850-20C= (n.2850-20C=)
c.2877-20C= (n.2877-20C=)
c.2874-20C= (n.2874-20C=)
c.2856-20C= (n.2856-20C=)
c.2799-20C= (n.2799-20C=)
c.2733-20C= (n.2733-20C=)
c.1299-20C= (n.1299-20C=)
c.651-20C= (n.651-20C=)
c.438-20C= (n.438-20C=)
c.2712-20C= (n.2712-20C=)
c.2847-20C= (n.2847-20C=)
c.2853-20C= (n.2853-20C=)
c.2769-20C= (n.2769-20C=)
c.2697-20C= (n.2697-20C=)
c.2631-20C= (n.2631-20C=)
c.1992-20C= (n.1992-20C=)
c.2610-20C= (n.2610-20C=)
9g.137812986C>GCA591375845EHMT1c.2868-20C>G (n.2868-20C>G)
c.2754-20C>G (n.2754-20C>G)
c.2775-20C>G (n.2775-20C>G)
c.2908-20C>G (n.2908-20C>G)
c.762-20C>G (n.762-20C>G)
c.1725-20C>G (n.1725-20C>G)
c.555-20C>G
n.394-20C>G
c.2859-20C>G (n.2859-20C>G)
c.2850-20C>G (n.2850-20C>G)
c.2877-20C>G (n.2877-20C>G)
c.2874-20C>G (n.2874-20C>G)
c.2856-20C>G (n.2856-20C>G)
c.2799-20C>G (n.2799-20C>G)
c.2733-20C>G (n.2733-20C>G)
c.1299-20C>G (n.1299-20C>G)
c.651-20C>G (n.651-20C>G)
c.438-20C>G (n.438-20C>G)
c.2712-20C>G (n.2712-20C>G)
c.2847-20C>G (n.2847-20C>G)
c.2853-20C>G (n.2853-20C>G)
c.2769-20C>G (n.2769-20C>G)
c.2697-20C>G (n.2697-20C>G)
c.2631-20C>G (n.2631-20C>G)
c.1992-20C>G (n.1992-20C>G)
c.2610-20C>G (n.2610-20C>G)
 dbSNP gnomAD v2 gnomAD v4
9g.137812989T>ACA2579536495EHMT1c.2868-17T>A (n.2868-17T>A)
c.2754-17T>A (n.2754-17T>A)
c.2775-17T>A (n.2775-17T>A)
c.2908-17T>A (n.2908-17T>A)
c.762-17T>A (n.762-17T>A)
c.1725-17T>A (n.1725-17T>A)
c.555-17T>A
n.394-17T>A
c.2859-17T>A (n.2859-17T>A)
c.2850-17T>A (n.2850-17T>A)
c.2877-17T>A (n.2877-17T>A)
c.2874-17T>A (n.2874-17T>A)
c.2856-17T>A (n.2856-17T>A)
c.2799-17T>A (n.2799-17T>A)
c.2733-17T>A (n.2733-17T>A)
c.1299-17T>A (n.1299-17T>A)
c.651-17T>A (n.651-17T>A)
c.438-17T>A (n.438-17T>A)
c.2712-17T>A (n.2712-17T>A)
c.2847-17T>A (n.2847-17T>A)
c.2853-17T>A (n.2853-17T>A)
c.2769-17T>A (n.2769-17T>A)
c.2697-17T>A (n.2697-17T>A)
c.2631-17T>A (n.2631-17T>A)
c.1992-17T>A (n.1992-17T>A)
c.2610-17T>A (n.2610-17T>A)
 gnomAD v4
9g.137812991C>ACA2692890673EHMT1c.2868-15C>A (n.2868-15C>A)
c.2754-15C>A (n.2754-15C>A)
c.2775-15C>A (n.2775-15C>A)
c.2908-15C>A (n.2908-15C>A)
c.762-15C>A (n.762-15C>A)
c.1725-15C>A (n.1725-15C>A)
c.555-15C>A
n.394-15C>A
c.2859-15C>A (n.2859-15C>A)
c.2850-15C>A (n.2850-15C>A)
c.2877-15C>A (n.2877-15C>A)
c.2874-15C>A (n.2874-15C>A)
c.2856-15C>A (n.2856-15C>A)
c.2799-15C>A (n.2799-15C>A)
c.2733-15C>A (n.2733-15C>A)
c.1299-15C>A (n.1299-15C>A)
c.651-15C>A (n.651-15C>A)
c.438-15C>A (n.438-15C>A)
c.2712-15C>A (n.2712-15C>A)
c.2847-15C>A (n.2847-15C>A)
c.2853-15C>A (n.2853-15C>A)
c.2769-15C>A (n.2769-15C>A)
c.2697-15C>A (n.2697-15C>A)
c.2631-15C>A (n.2631-15C>A)
c.1992-15C>A (n.1992-15C>A)
c.2610-15C>A (n.2610-15C>A)
 gnomAD v4
9g.137812991C=CA1884685662EHMT1c.2868-15C= (n.2868-15C=)
c.2754-15C= (n.2754-15C=)
c.2775-15C= (n.2775-15C=)
c.2908-15C= (n.2908-15C=)
c.762-15C= (n.762-15C=)
c.1725-15C= (n.1725-15C=)
c.555-15C=
n.394-15C=
c.2859-15C= (n.2859-15C=)
c.2850-15C= (n.2850-15C=)
c.2877-15C= (n.2877-15C=)
c.2874-15C= (n.2874-15C=)
c.2856-15C= (n.2856-15C=)
c.2799-15C= (n.2799-15C=)
c.2733-15C= (n.2733-15C=)
c.1299-15C= (n.1299-15C=)
c.651-15C= (n.651-15C=)
c.438-15C= (n.438-15C=)
c.2712-15C= (n.2712-15C=)
c.2847-15C= (n.2847-15C=)
c.2853-15C= (n.2853-15C=)
c.2769-15C= (n.2769-15C=)
c.2697-15C= (n.2697-15C=)
c.2631-15C= (n.2631-15C=)
c.1992-15C= (n.1992-15C=)
c.2610-15C= (n.2610-15C=)
9g.137812991C>TCA201843062EHMT1c.2868-15C>T (n.2868-15C>T)
c.2754-15C>T (n.2754-15C>T)
c.2775-15C>T (n.2775-15C>T)
c.2908-15C>T (n.2908-15C>T)
c.762-15C>T (n.762-15C>T)
c.1725-15C>T (n.1725-15C>T)
c.555-15C>T
n.394-15C>T
c.2859-15C>T (n.2859-15C>T)
c.2850-15C>T (n.2850-15C>T)
c.2877-15C>T (n.2877-15C>T)
c.2874-15C>T (n.2874-15C>T)
c.2856-15C>T (n.2856-15C>T)
c.2799-15C>T (n.2799-15C>T)
c.2733-15C>T (n.2733-15C>T)
c.1299-15C>T (n.1299-15C>T)
c.651-15C>T (n.651-15C>T)
c.438-15C>T (n.438-15C>T)
c.2712-15C>T (n.2712-15C>T)
c.2847-15C>T (n.2847-15C>T)
c.2853-15C>T (n.2853-15C>T)
c.2769-15C>T (n.2769-15C>T)
c.2697-15C>T (n.2697-15C>T)
c.2631-15C>T (n.2631-15C>T)
c.1992-15C>T (n.1992-15C>T)
c.2610-15C>T (n.2610-15C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.137812992A>GCA2579536496EHMT1c.2868-14A>G (n.2868-14A>G)
c.2754-14A>G (n.2754-14A>G)
c.2775-14A>G (n.2775-14A>G)
c.2908-14A>G (n.2908-14A>G)
c.762-14A>G (n.762-14A>G)
c.1725-14A>G (n.1725-14A>G)
c.555-14A>G
n.394-14A>G
c.2859-14A>G (n.2859-14A>G)
c.2850-14A>G (n.2850-14A>G)
c.2877-14A>G (n.2877-14A>G)
c.2874-14A>G (n.2874-14A>G)
c.2856-14A>G (n.2856-14A>G)
c.2799-14A>G (n.2799-14A>G)
c.2733-14A>G (n.2733-14A>G)
c.1299-14A>G (n.1299-14A>G)
c.651-14A>G (n.651-14A>G)
c.438-14A>G (n.438-14A>G)
c.2712-14A>G (n.2712-14A>G)
c.2847-14A>G (n.2847-14A>G)
c.2853-14A>G (n.2853-14A>G)
c.2769-14A>G (n.2769-14A>G)
c.2697-14A>G (n.2697-14A>G)
c.2631-14A>G (n.2631-14A>G)
c.1992-14A>G (n.1992-14A>G)
c.2610-14A>G (n.2610-14A>G)
 gnomAD v4
9g.137812994T>CCA2692890674EHMT1c.2868-12T>C (n.2868-12T>C)
c.2754-12T>C (n.2754-12T>C)
c.2775-12T>C (n.2775-12T>C)
c.2908-12T>C (n.2908-12T>C)
c.762-12T>C (n.762-12T>C)
c.1725-12T>C (n.1725-12T>C)
c.555-12T>C
n.394-12T>C
c.2859-12T>C (n.2859-12T>C)
c.2850-12T>C (n.2850-12T>C)
c.2877-12T>C (n.2877-12T>C)
c.2874-12T>C (n.2874-12T>C)
c.2856-12T>C (n.2856-12T>C)
c.2799-12T>C (n.2799-12T>C)
c.2733-12T>C (n.2733-12T>C)
c.1299-12T>C (n.1299-12T>C)
c.651-12T>C (n.651-12T>C)
c.438-12T>C (n.438-12T>C)
c.2712-12T>C (n.2712-12T>C)
c.2847-12T>C (n.2847-12T>C)
c.2853-12T>C (n.2853-12T>C)
c.2769-12T>C (n.2769-12T>C)
c.2697-12T>C (n.2697-12T>C)
c.2631-12T>C (n.2631-12T>C)
c.1992-12T>C (n.1992-12T>C)
c.2610-12T>C (n.2610-12T>C)
 gnomAD v4
9g.137812997C=CA1884685663EHMT1c.2868-9C= (n.2868-9C=)
c.2754-9C= (n.2754-9C=)
c.2775-9C= (n.2775-9C=)
c.2908-9C= (n.2908-9C=)
c.762-9C= (n.762-9C=)
c.1725-9C= (n.1725-9C=)
c.555-9C=
n.394-9C=
c.2859-9C= (n.2859-9C=)
c.2850-9C= (n.2850-9C=)
c.2877-9C= (n.2877-9C=)
c.2874-9C= (n.2874-9C=)
c.2856-9C= (n.2856-9C=)
c.2799-9C= (n.2799-9C=)
c.2733-9C= (n.2733-9C=)
c.1299-9C= (n.1299-9C=)
c.651-9C= (n.651-9C=)
c.438-9C= (n.438-9C=)
c.2712-9C= (n.2712-9C=)
c.2847-9C= (n.2847-9C=)
c.2853-9C= (n.2853-9C=)
c.2769-9C= (n.2769-9C=)
c.2697-9C= (n.2697-9C=)
c.2631-9C= (n.2631-9C=)
c.1992-9C= (n.1992-9C=)
c.2610-9C= (n.2610-9C=)
9g.137812997C>GCA201843067EHMT1c.2868-9C>G (n.2868-9C>G)
c.2754-9C>G (n.2754-9C>G)
c.2775-9C>G (n.2775-9C>G)
c.2908-9C>G (n.2908-9C>G)
c.762-9C>G (n.762-9C>G)
c.1725-9C>G (n.1725-9C>G)
c.555-9C>G
n.394-9C>G
c.2859-9C>G (n.2859-9C>G)
c.2850-9C>G (n.2850-9C>G)
c.2877-9C>G (n.2877-9C>G)
c.2874-9C>G (n.2874-9C>G)
c.2856-9C>G (n.2856-9C>G)
c.2799-9C>G (n.2799-9C>G)
c.2733-9C>G (n.2733-9C>G)
c.1299-9C>G (n.1299-9C>G)
c.651-9C>G (n.651-9C>G)
c.438-9C>G (n.438-9C>G)
c.2712-9C>G (n.2712-9C>G)
c.2847-9C>G (n.2847-9C>G)
c.2853-9C>G (n.2853-9C>G)
c.2769-9C>G (n.2769-9C>G)
c.2697-9C>G (n.2697-9C>G)
c.2631-9C>G (n.2631-9C>G)
c.1992-9C>G (n.1992-9C>G)
c.2610-9C>G (n.2610-9C>G)
 dbSNP
9g.137812997C>TCA1130161543EHMT1c.2868-9C>T (n.2868-9C>T)
c.2754-9C>T (n.2754-9C>T)
c.2775-9C>T (n.2775-9C>T)
c.2908-9C>T (n.2908-9C>T)
c.762-9C>T (n.762-9C>T)
c.1725-9C>T (n.1725-9C>T)
c.555-9C>T
n.394-9C>T
c.2859-9C>T (n.2859-9C>T)
c.2850-9C>T (n.2850-9C>T)
c.2877-9C>T (n.2877-9C>T)
c.2874-9C>T (n.2874-9C>T)
c.2856-9C>T (n.2856-9C>T)
c.2799-9C>T (n.2799-9C>T)
c.2733-9C>T (n.2733-9C>T)
c.1299-9C>T (n.1299-9C>T)
c.651-9C>T (n.651-9C>T)
c.438-9C>T (n.438-9C>T)
c.2712-9C>T (n.2712-9C>T)
c.2847-9C>T (n.2847-9C>T)
c.2853-9C>T (n.2853-9C>T)
c.2769-9C>T (n.2769-9C>T)
c.2697-9C>T (n.2697-9C>T)
c.2631-9C>T (n.2631-9C>T)
c.1992-9C>T (n.1992-9C>T)
c.2610-9C>T (n.2610-9C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.137812998C=CA1884685664EHMT1c.2868-8C= (n.2868-8C=)
c.2754-8C= (n.2754-8C=)
c.2775-8C= (n.2775-8C=)
c.2908-8C= (n.2908-8C=)
c.762-8C= (n.762-8C=)
c.1725-8C= (n.1725-8C=)
c.555-8C=
n.394-8C=
c.2859-8C= (n.2859-8C=)
c.2850-8C= (n.2850-8C=)
c.2877-8C= (n.2877-8C=)
c.2874-8C= (n.2874-8C=)
c.2856-8C= (n.2856-8C=)
c.2799-8C= (n.2799-8C=)
c.2733-8C= (n.2733-8C=)
c.1299-8C= (n.1299-8C=)
c.651-8C= (n.651-8C=)
c.438-8C= (n.438-8C=)
c.2712-8C= (n.2712-8C=)
c.2847-8C= (n.2847-8C=)
c.2853-8C= (n.2853-8C=)
c.2769-8C= (n.2769-8C=)
c.2697-8C= (n.2697-8C=)
c.2631-8C= (n.2631-8C=)
c.1992-8C= (n.1992-8C=)
c.2610-8C= (n.2610-8C=)
9g.137812998C>TCA5375097EHMT1c.2868-8C>T (n.2868-8C>T)
c.2754-8C>T (n.2754-8C>T)
c.2775-8C>T (n.2775-8C>T)
c.2908-8C>T (n.2908-8C>T)
c.762-8C>T (n.762-8C>T)
c.1725-8C>T (n.1725-8C>T)
c.555-8C>T
n.394-8C>T
c.2859-8C>T (n.2859-8C>T)
c.2850-8C>T (n.2850-8C>T)
c.2877-8C>T (n.2877-8C>T)
c.2874-8C>T (n.2874-8C>T)
c.2856-8C>T (n.2856-8C>T)
c.2799-8C>T (n.2799-8C>T)
c.2733-8C>T (n.2733-8C>T)
c.1299-8C>T (n.1299-8C>T)
c.651-8C>T (n.651-8C>T)
c.438-8C>T (n.438-8C>T)
c.2712-8C>T (n.2712-8C>T)
c.2847-8C>T (n.2847-8C>T)
c.2853-8C>T (n.2853-8C>T)
c.2769-8C>T (n.2769-8C>T)
c.2697-8C>T (n.2697-8C>T)
c.2631-8C>T (n.2631-8C>T)
c.1992-8C>T (n.1992-8C>T)
c.2610-8C>T (n.2610-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137812999C=CA1884685665EHMT1c.2868-7C= (n.2868-7C=)
c.2754-7C= (n.2754-7C=)
c.2775-7C= (n.2775-7C=)
c.2908-7C= (n.2908-7C=)
c.762-7C= (n.762-7C=)
c.1725-7C= (n.1725-7C=)
c.555-7C=
n.394-7C=
c.2859-7C= (n.2859-7C=)
c.2850-7C= (n.2850-7C=)
c.2877-7C= (n.2877-7C=)
c.2874-7C= (n.2874-7C=)
c.2856-7C= (n.2856-7C=)
c.2799-7C= (n.2799-7C=)
c.2733-7C= (n.2733-7C=)
c.1299-7C= (n.1299-7C=)
c.651-7C= (n.651-7C=)
c.438-7C= (n.438-7C=)
c.2712-7C= (n.2712-7C=)
c.2847-7C= (n.2847-7C=)
c.2853-7C= (n.2853-7C=)
c.2769-7C= (n.2769-7C=)
c.2697-7C= (n.2697-7C=)
c.2631-7C= (n.2631-7C=)
c.1992-7C= (n.1992-7C=)
c.2610-7C= (n.2610-7C=)
9g.137812999C>TCA1884685666EHMT1c.2868-7C>T (n.2868-7C>T)
c.2754-7C>T (n.2754-7C>T)
c.2775-7C>T (n.2775-7C>T)
c.2908-7C>T (n.2908-7C>T)
c.762-7C>T (n.762-7C>T)
c.1725-7C>T (n.1725-7C>T)
c.555-7C>T
n.394-7C>T
c.2859-7C>T (n.2859-7C>T)
c.2850-7C>T (n.2850-7C>T)
c.2877-7C>T (n.2877-7C>T)
c.2874-7C>T (n.2874-7C>T)
c.2856-7C>T (n.2856-7C>T)
c.2799-7C>T (n.2799-7C>T)
c.2733-7C>T (n.2733-7C>T)
c.1299-7C>T (n.1299-7C>T)
c.651-7C>T (n.651-7C>T)
c.438-7C>T (n.438-7C>T)
c.2712-7C>T (n.2712-7C>T)
c.2847-7C>T (n.2847-7C>T)
c.2853-7C>T (n.2853-7C>T)
c.2769-7C>T (n.2769-7C>T)
c.2697-7C>T (n.2697-7C>T)
c.2631-7C>T (n.2631-7C>T)
c.1992-7C>T (n.1992-7C>T)
c.2610-7C>T (n.2610-7C>T)
 ClinVar dbSNP
9g.137813004A>CCA375793151EHMT1c.2868-2A>C (n.2868-2A>C)
c.2754-2A>C (n.2754-2A>C)
c.2775-2A>C (n.2775-2A>C)
c.2908-2A>C (n.2908-2A>C)
c.762-2A>C (n.762-2A>C)
c.1725-2A>C (n.1725-2A>C)
c.555-2A>C
n.394-2A>C
c.2859-2A>C (n.2859-2A>C)
c.2850-2A>C (n.2850-2A>C)
c.2877-2A>C (n.2877-2A>C)
c.2874-2A>C (n.2874-2A>C)
c.2856-2A>C (n.2856-2A>C)
c.2799-2A>C (n.2799-2A>C)
c.2733-2A>C (n.2733-2A>C)
c.1299-2A>C (n.1299-2A>C)
c.651-2A>C (n.651-2A>C)
c.438-2A>C (n.438-2A>C)
c.2712-2A>C (n.2712-2A>C)
c.2847-2A>C (n.2847-2A>C)
c.2853-2A>C (n.2853-2A>C)
c.2769-2A>C (n.2769-2A>C)
c.2697-2A>C (n.2697-2A>C)
c.2631-2A>C (n.2631-2A>C)
c.1992-2A>C (n.1992-2A>C)
c.2610-2A>C (n.2610-2A>C)
9g.137813004A>GCA375793149EHMT1c.2868-2A>G (n.2868-2A>G)
c.2754-2A>G (n.2754-2A>G)
c.2775-2A>G (n.2775-2A>G)
c.2908-2A>G (n.2908-2A>G)
c.762-2A>G (n.762-2A>G)
c.1725-2A>G (n.1725-2A>G)
c.555-2A>G
n.394-2A>G
c.2859-2A>G (n.2859-2A>G)
c.2850-2A>G (n.2850-2A>G)
c.2877-2A>G (n.2877-2A>G)
c.2874-2A>G (n.2874-2A>G)
c.2856-2A>G (n.2856-2A>G)
c.2799-2A>G (n.2799-2A>G)
c.2733-2A>G (n.2733-2A>G)
c.1299-2A>G (n.1299-2A>G)
c.651-2A>G (n.651-2A>G)
c.438-2A>G (n.438-2A>G)
c.2712-2A>G (n.2712-2A>G)
c.2847-2A>G (n.2847-2A>G)
c.2853-2A>G (n.2853-2A>G)
c.2769-2A>G (n.2769-2A>G)
c.2697-2A>G (n.2697-2A>G)
c.2631-2A>G (n.2631-2A>G)
c.1992-2A>G (n.1992-2A>G)
c.2610-2A>G (n.2610-2A>G)
9g.137813004A>TCA375793146EHMT1c.2868-2A>T (n.2868-2A>T)
c.2754-2A>T (n.2754-2A>T)
c.2775-2A>T (n.2775-2A>T)
c.2908-2A>T (n.2908-2A>T)
c.762-2A>T (n.762-2A>T)
c.1725-2A>T (n.1725-2A>T)
c.555-2A>T
n.394-2A>T
c.2859-2A>T (n.2859-2A>T)
c.2850-2A>T (n.2850-2A>T)
c.2877-2A>T (n.2877-2A>T)
c.2874-2A>T (n.2874-2A>T)
c.2856-2A>T (n.2856-2A>T)
c.2799-2A>T (n.2799-2A>T)
c.2733-2A>T (n.2733-2A>T)
c.1299-2A>T (n.1299-2A>T)
c.651-2A>T (n.651-2A>T)
c.438-2A>T (n.438-2A>T)
c.2712-2A>T (n.2712-2A>T)
c.2847-2A>T (n.2847-2A>T)
c.2853-2A>T (n.2853-2A>T)
c.2769-2A>T (n.2769-2A>T)
c.2697-2A>T (n.2697-2A>T)
c.2631-2A>T (n.2631-2A>T)
c.1992-2A>T (n.1992-2A>T)
c.2610-2A>T (n.2610-2A>T)
9g.137813005G>ACA345058EHMT1c.2868-1G>A (n.2868-1G>A)
c.2754-1G>A (n.2754-1G>A)
c.2775-1G>A (n.2775-1G>A)
c.2908-1G>A (n.2908-1G>A)
c.762-1G>A (n.762-1G>A)
c.1725-1G>A (n.1725-1G>A)
c.555-1G>A
n.394-1G>A
c.2859-1G>A (n.2859-1G>A)
c.2850-1G>A (n.2850-1G>A)
c.2877-1G>A (n.2877-1G>A)
c.2874-1G>A (n.2874-1G>A)
c.2856-1G>A (n.2856-1G>A)
c.2799-1G>A (n.2799-1G>A)
c.2733-1G>A (n.2733-1G>A)
c.1299-1G>A (n.1299-1G>A)
c.651-1G>A (n.651-1G>A)
c.438-1G>A (n.438-1G>A)
c.2712-1G>A (n.2712-1G>A)
c.2847-1G>A (n.2847-1G>A)
c.2853-1G>A (n.2853-1G>A)
c.2769-1G>A (n.2769-1G>A)
c.2697-1G>A (n.2697-1G>A)
c.2631-1G>A (n.2631-1G>A)
c.1992-1G>A (n.1992-1G>A)
c.2610-1G>A (n.2610-1G>A)
 ClinVar dbSNP
9g.137813005G>CCA375793152EHMT1c.2868-1G>C (n.2868-1G>C)
c.2754-1G>C (n.2754-1G>C)
c.2775-1G>C (n.2775-1G>C)
c.2908-1G>C (n.2908-1G>C)
c.762-1G>C (n.762-1G>C)
c.1725-1G>C (n.1725-1G>C)
c.555-1G>C
n.394-1G>C
c.2859-1G>C (n.2859-1G>C)
c.2850-1G>C (n.2850-1G>C)
c.2877-1G>C (n.2877-1G>C)
c.2874-1G>C (n.2874-1G>C)
c.2856-1G>C (n.2856-1G>C)
c.2799-1G>C (n.2799-1G>C)
c.2733-1G>C (n.2733-1G>C)
c.1299-1G>C (n.1299-1G>C)
c.651-1G>C (n.651-1G>C)
c.438-1G>C (n.438-1G>C)
c.2712-1G>C (n.2712-1G>C)
c.2847-1G>C (n.2847-1G>C)
c.2853-1G>C (n.2853-1G>C)
c.2769-1G>C (n.2769-1G>C)
c.2697-1G>C (n.2697-1G>C)
c.2631-1G>C (n.2631-1G>C)
c.1992-1G>C (n.1992-1G>C)
c.2610-1G>C (n.2610-1G>C)
9g.137813005G=CA1884685667EHMT1c.2868-1G= (n.2868-1G=)
c.2754-1G= (n.2754-1G=)
c.2775-1G= (n.2775-1G=)
c.2908-1G= (n.2908-1G=)
c.762-1G= (n.762-1G=)
c.1725-1G= (n.1725-1G=)
c.555-1G=
n.394-1G=
c.2859-1G= (n.2859-1G=)
c.2850-1G= (n.2850-1G=)
c.2877-1G= (n.2877-1G=)
c.2874-1G= (n.2874-1G=)
c.2856-1G= (n.2856-1G=)
c.2799-1G= (n.2799-1G=)
c.2733-1G= (n.2733-1G=)
c.1299-1G= (n.1299-1G=)
c.651-1G= (n.651-1G=)
c.438-1G= (n.438-1G=)
c.2712-1G= (n.2712-1G=)
c.2847-1G= (n.2847-1G=)
c.2853-1G= (n.2853-1G=)
c.2769-1G= (n.2769-1G=)
c.2697-1G= (n.2697-1G=)
c.2631-1G= (n.2631-1G=)
c.1992-1G= (n.1992-1G=)
c.2610-1G= (n.2610-1G=)
9g.137813005G>TCA375793154EHMT1c.2868-1G>T (n.2868-1G>T)
c.2754-1G>T (n.2754-1G>T)
c.2775-1G>T (n.2775-1G>T)
c.2908-1G>T (n.2908-1G>T)
c.762-1G>T (n.762-1G>T)
c.1725-1G>T (n.1725-1G>T)
c.555-1G>T
n.394-1G>T
c.2859-1G>T (n.2859-1G>T)
c.2850-1G>T (n.2850-1G>T)
c.2877-1G>T (n.2877-1G>T)
c.2874-1G>T (n.2874-1G>T)
c.2856-1G>T (n.2856-1G>T)
c.2799-1G>T (n.2799-1G>T)
c.2733-1G>T (n.2733-1G>T)
c.1299-1G>T (n.1299-1G>T)
c.651-1G>T (n.651-1G>T)
c.438-1G>T (n.438-1G>T)
c.2712-1G>T (n.2712-1G>T)
c.2847-1G>T (n.2847-1G>T)
c.2853-1G>T (n.2853-1G>T)
c.2769-1G>T (n.2769-1G>T)
c.2697-1G>T (n.2697-1G>T)
c.2631-1G>T (n.2631-1G>T)
c.1992-1G>T (n.1992-1G>T)
c.2610-1G>T (n.2610-1G>T)
9g.137813006C>ACA468161012EHMT1c.2868C>A (p.Val956=)
c.2754C>A (p.Val918=)
c.2775C>A (p.Val925=)
c.2908C>A (n.2908C>A)
c.762C>A (p.Val254=)
c.1725C>A (p.Val575=)
c.555C>A
n.394C>A
c.2859C>A (p.Val953=)
c.2850C>A (p.Val950=)
c.2877C>A (p.Val959=)
c.2874C>A (p.Val958=)
c.2856C>A (p.Val952=)
c.2799C>A (p.Val933=)
c.2733C>A (p.Val911=)
c.1299C>A (p.Val433=)
c.651C>A (p.Val217=)
c.438C>A (p.Val146=)
c.2712C>A (p.Val904=)
c.2847C>A (p.Val949=)
c.2853C>A (p.Val951=)
c.2769C>A (p.Val923=)
c.2697C>A (p.Val899=)
c.2631C>A (p.Val877=)
c.1992C>A (p.Val664=)
c.2610C>A (p.Val870=)
9g.137813006C>GCA468161013EHMT1c.2868C>G (p.Val956=)
c.2754C>G (p.Val918=)
c.2775C>G (p.Val925=)
c.2908C>G (n.2908C>G)
c.762C>G (p.Val254=)
c.1725C>G (p.Val575=)
c.555C>G
n.394C>G
c.2859C>G (p.Val953=)
c.2850C>G (p.Val950=)
c.2877C>G (p.Val959=)
c.2874C>G (p.Val958=)
c.2856C>G (p.Val952=)
c.2799C>G (p.Val933=)
c.2733C>G (p.Val911=)
c.1299C>G (p.Val433=)
c.651C>G (p.Val217=)
c.438C>G (p.Val146=)
c.2712C>G (p.Val904=)
c.2847C>G (p.Val949=)
c.2853C>G (p.Val951=)
c.2769C>G (p.Val923=)
c.2697C>G (p.Val899=)
c.2631C>G (p.Val877=)
c.1992C>G (p.Val664=)
c.2610C>G (p.Val870=)
9g.137813006C>TCA468161014EHMT1c.2868C>T (p.Val956=)
c.2754C>T (p.Val918=)
c.2775C>T (p.Val925=)
c.2908C>T (n.2908C>T)
c.762C>T (p.Val254=)
c.1725C>T (p.Val575=)
c.555C>T
n.394C>T
c.2859C>T (p.Val953=)
c.2850C>T (p.Val950=)
c.2877C>T (p.Val959=)
c.2874C>T (p.Val958=)
c.2856C>T (p.Val952=)
c.2799C>T (p.Val933=)
c.2733C>T (p.Val911=)
c.1299C>T (p.Val433=)
c.651C>T (p.Val217=)
c.438C>T (p.Val146=)
c.2712C>T (p.Val904=)
c.2847C>T (p.Val949=)
c.2853C>T (p.Val951=)
c.2769C>T (p.Val923=)
c.2697C>T (p.Val899=)
c.2631C>T (p.Val877=)
c.1992C>T (p.Val664=)
c.2610C>T (p.Val870=)
9g.137813007C>ACA375793157EHMT1c.2869C>A (p.Leu957Ile)
c.2755C>A (p.Leu919Ile)
c.2776C>A (p.Leu926Ile)
c.2909C>A (n.2909C>A)
c.763C>A (p.Leu255Ile)
c.1726C>A (p.Leu576Ile)
c.556C>A
n.395C>A
c.2860C>A (p.Leu954Ile)
c.2851C>A (p.Leu951Ile)
c.2878C>A (p.Leu960Ile)
c.2875C>A (p.Leu959Ile)
c.2857C>A (p.Leu953Ile)
c.2800C>A (p.Leu934Ile)
c.2734C>A (p.Leu912Ile)
c.1300C>A (p.Leu434Ile)
c.652C>A (p.Leu218Ile)
c.439C>A (p.Leu147Ile)
c.2713C>A (p.Leu905Ile)
c.2848C>A (p.Leu950Ile)
c.2854C>A (p.Leu952Ile)
c.2770C>A (p.Leu924Ile)
c.2698C>A (p.Leu900Ile)
c.2632C>A (p.Leu878Ile)
c.1993C>A (p.Leu665Ile)
c.2611C>A (p.Leu871Ile)
9g.137813007C>GCA375793159EHMT1c.2869C>G (p.Leu957Val)
c.2755C>G (p.Leu919Val)
c.2776C>G (p.Leu926Val)
c.2909C>G (n.2909C>G)
c.763C>G (p.Leu255Val)
c.1726C>G (p.Leu576Val)
c.556C>G
n.395C>G
c.2860C>G (p.Leu954Val)
c.2851C>G (p.Leu951Val)
c.2878C>G (p.Leu960Val)
c.2875C>G (p.Leu959Val)
c.2857C>G (p.Leu953Val)
c.2800C>G (p.Leu934Val)
c.2734C>G (p.Leu912Val)
c.1300C>G (p.Leu434Val)
c.652C>G (p.Leu218Val)
c.439C>G (p.Leu147Val)
c.2713C>G (p.Leu905Val)
c.2848C>G (p.Leu950Val)
c.2854C>G (p.Leu952Val)
c.2770C>G (p.Leu924Val)
c.2698C>G (p.Leu900Val)
c.2632C>G (p.Leu878Val)
c.1993C>G (p.Leu665Val)
c.2611C>G (p.Leu871Val)
 gnomAD v4
9g.137813007C>TCA375793161EHMT1c.2869C>T (p.Leu957Phe)
c.2755C>T (p.Leu919Phe)
c.2776C>T (p.Leu926Phe)
c.2909C>T (n.2909C>T)
c.763C>T (p.Leu255Phe)
c.1726C>T (p.Leu576Phe)
c.556C>T
n.395C>T
c.2860C>T (p.Leu954Phe)
c.2851C>T (p.Leu951Phe)
c.2878C>T (p.Leu960Phe)
c.2875C>T (p.Leu959Phe)
c.2857C>T (p.Leu953Phe)
c.2800C>T (p.Leu934Phe)
c.2734C>T (p.Leu912Phe)
c.1300C>T (p.Leu434Phe)
c.652C>T (p.Leu218Phe)
c.439C>T (p.Leu147Phe)
c.2713C>T (p.Leu905Phe)
c.2848C>T (p.Leu950Phe)
c.2854C>T (p.Leu952Phe)
c.2770C>T (p.Leu924Phe)
c.2698C>T (p.Leu900Phe)
c.2632C>T (p.Leu878Phe)
c.1993C>T (p.Leu665Phe)
c.2611C>T (p.Leu871Phe)
9g.137813007_137813011delinsCTCTTCA1884685668EHMT1c.2869_2873delinsCTCTT (p.Leu957=)
c.2755_2759delinsCTCTT (p.Leu919=)
c.2776_2780delinsCTCTT (p.Leu926=)
c.2909_2913delinsCTCTT (n.2909_2913delinsCTCTT)
c.763_767delinsCTCTT (p.Leu255=)
c.1726_1730delinsCTCTT (p.Leu576=)
c.556_560delinsCTCTT
n.395_399delinsCTCTT
c.2860_2864delinsCTCTT (p.Leu954=)
c.2851_2855delinsCTCTT (p.Leu951=)
c.2878_2882delinsCTCTT (p.Leu960=)
c.2875_2879delinsCTCTT (p.Leu959=)
c.2857_2861delinsCTCTT (p.Leu953=)
c.2800_2804delinsCTCTT (p.Leu934=)
c.2734_2738delinsCTCTT (p.Leu912=)
c.1300_1304delinsCTCTT (p.Leu434=)
c.652_656delinsCTCTT (p.Leu218=)
c.439_443delinsCTCTT (p.Leu147=)
c.2713_2717delinsCTCTT (p.Leu905=)
c.2848_2852delinsCTCTT (p.Leu950=)
c.2854_2858delinsCTCTT (p.Leu952=)
c.2770_2774delinsCTCTT (p.Leu924=)
c.2698_2702delinsCTCTT (p.Leu900=)
c.2632_2636delinsCTCTT (p.Leu878=)
c.1993_1997delinsCTCTT (p.Leu665=)
c.2611_2615delinsCTCTT (p.Leu871=)
9g.137813008T>ACA375793163EHMT1c.2870T>A (p.Leu957His)
c.2756T>A (p.Leu919His)
c.2777T>A (p.Leu926His)
c.2910T>A (n.2910T>A)
c.764T>A (p.Leu255His)
c.1727T>A (p.Leu576His)
c.557T>A
n.396T>A
c.2861T>A (p.Leu954His)
c.2852T>A (p.Leu951His)
c.2879T>A (p.Leu960His)
c.2876T>A (p.Leu959His)
c.2858T>A (p.Leu953His)
c.2801T>A (p.Leu934His)
c.2735T>A (p.Leu912His)
c.1301T>A (p.Leu434His)
c.653T>A (p.Leu218His)
c.440T>A (p.Leu147His)
c.2714T>A (p.Leu905His)
c.2849T>A (p.Leu950His)
c.2855T>A (p.Leu952His)
c.2771T>A (p.Leu924His)
c.2699T>A (p.Leu900His)
c.2633T>A (p.Leu878His)
c.1994T>A (p.Leu665His)
c.2612T>A (p.Leu871His)
9g.137813008T>CCA375793165EHMT1c.2870T>C (p.Leu957Pro)
c.2756T>C (p.Leu919Pro)
c.2777T>C (p.Leu926Pro)
c.2910T>C (n.2910T>C)
c.764T>C (p.Leu255Pro)
c.1727T>C (p.Leu576Pro)
c.557T>C
n.396T>C
c.2861T>C (p.Leu954Pro)
c.2852T>C (p.Leu951Pro)
c.2879T>C (p.Leu960Pro)
c.2876T>C (p.Leu959Pro)
c.2858T>C (p.Leu953Pro)
c.2801T>C (p.Leu934Pro)
c.2735T>C (p.Leu912Pro)
c.1301T>C (p.Leu434Pro)
c.653T>C (p.Leu218Pro)
c.440T>C (p.Leu147Pro)
c.2714T>C (p.Leu905Pro)
c.2849T>C (p.Leu950Pro)
c.2855T>C (p.Leu952Pro)
c.2771T>C (p.Leu924Pro)
c.2699T>C (p.Leu900Pro)
c.2633T>C (p.Leu878Pro)
c.1994T>C (p.Leu665Pro)
c.2612T>C (p.Leu871Pro)
9g.137813008T>GCA375793167EHMT1c.2870T>G (p.Leu957Arg)
c.2756T>G (p.Leu919Arg)
c.2777T>G (p.Leu926Arg)
c.2910T>G (n.2910T>G)
c.764T>G (p.Leu255Arg)
c.1727T>G (p.Leu576Arg)
c.557T>G
n.396T>G
c.2861T>G (p.Leu954Arg)
c.2852T>G (p.Leu951Arg)
c.2879T>G (p.Leu960Arg)
c.2876T>G (p.Leu959Arg)
c.2858T>G (p.Leu953Arg)
c.2801T>G (p.Leu934Arg)
c.2735T>G (p.Leu912Arg)
c.1301T>G (p.Leu434Arg)
c.653T>G (p.Leu218Arg)
c.440T>G (p.Leu147Arg)
c.2714T>G (p.Leu905Arg)
c.2849T>G (p.Leu950Arg)
c.2855T>G (p.Leu952Arg)
c.2771T>G (p.Leu924Arg)
c.2699T>G (p.Leu900Arg)
c.2633T>G (p.Leu878Arg)
c.1994T>G (p.Leu665Arg)
c.2612T>G (p.Leu871Arg)
9g.137813015_137813018delCA345059EHMT1c.2877_2880del (p.Ser960GlyfsTer7)
c.2763_2766del (p.Ser922GlyfsTer7)
c.2784_2787del (p.Ser929GlyfsTer7)
c.2917_2920del (n.2917_2920del)
c.771_774del (p.Ser258GlyfsTer7)
c.1734_1737del (p.Ser579GlyfsTer7)
c.564_567del
n.403_406del
c.2868_2871del (p.Ser957GlyfsTer7)
c.2859_2862del (p.Ser954GlyfsTer7)
c.2886_2889del (p.Ser963GlyfsTer7)
c.2883_2886del (p.Ser962GlyfsTer7)
c.2865_2868del (p.Ser956GlyfsTer7)
c.2808_2811del (p.Ser937GlyfsTer7)
c.2742_2745del (p.Ser915GlyfsTer7)
c.1308_1311del (p.Ser437GlyfsTer7)
c.660_663del (p.Ser221GlyfsTer7)
c.447_450del (p.Ser150GlyfsTer7)
c.2721_2724del (p.Ser908GlyfsTer7)
c.2856_2859del (p.Ser953GlyfsTer7)
c.2862_2865del (p.Ser955GlyfsTer7)
c.2778_2781del (p.Ser927GlyfsTer7)
c.2706_2709del (p.Ser903GlyfsTer7)
c.2640_2643del (p.Ser881GlyfsTer7)
c.2001_2004del (p.Ser668GlyfsTer7)
c.2619_2622del (p.Ser874GlyfsTer7)
 ClinVar dbSNP COSMIC COSMIC
9g.137813009C>ACA468161015EHMT1c.2871C>A (p.Leu957=)
c.2757C>A (p.Leu919=)
c.2778C>A (p.Leu926=)
c.2911C>A (n.2911C>A)
c.765C>A (p.Leu255=)
c.1728C>A (p.Leu576=)
c.558C>A
n.397C>A
c.2862C>A (p.Leu954=)
c.2853C>A (p.Leu951=)
c.2880C>A (p.Leu960=)
c.2877C>A (p.Leu959=)
c.2859C>A (p.Leu953=)
c.2802C>A (p.Leu934=)
c.2736C>A (p.Leu912=)
c.1302C>A (p.Leu434=)
c.654C>A (p.Leu218=)
c.441C>A (p.Leu147=)
c.2715C>A (p.Leu905=)
c.2850C>A (p.Leu950=)
c.2856C>A (p.Leu952=)
c.2772C>A (p.Leu924=)
c.2700C>A (p.Leu900=)
c.2634C>A (p.Leu878=)
c.1995C>A (p.Leu665=)
c.2613C>A (p.Leu871=)
9g.137813009C=CA1884685669EHMT1c.2871C= (p.Leu957=)
c.2757C= (p.Leu919=)
c.2778C= (p.Leu926=)
c.2911C= (n.2911C=)
c.765C= (p.Leu255=)
c.1728C= (p.Leu576=)
c.558C=
n.397C=
c.2862C= (p.Leu954=)
c.2853C= (p.Leu951=)
c.2880C= (p.Leu960=)
c.2877C= (p.Leu959=)
c.2859C= (p.Leu953=)
c.2802C= (p.Leu934=)
c.2736C= (p.Leu912=)
c.1302C= (p.Leu434=)
c.654C= (p.Leu218=)
c.441C= (p.Leu147=)
c.2715C= (p.Leu905=)
c.2850C= (p.Leu950=)
c.2856C= (p.Leu952=)
c.2772C= (p.Leu924=)
c.2700C= (p.Leu900=)
c.2634C= (p.Leu878=)
c.1995C= (p.Leu665=)
c.2613C= (p.Leu871=)
9g.137813009C>GCA468161016EHMT1c.2871C>G (p.Leu957=)
c.2757C>G (p.Leu919=)
c.2778C>G (p.Leu926=)
c.2911C>G (n.2911C>G)
c.765C>G (p.Leu255=)
c.1728C>G (p.Leu576=)
c.558C>G
n.397C>G
c.2862C>G (p.Leu954=)
c.2853C>G (p.Leu951=)
c.2880C>G (p.Leu960=)
c.2877C>G (p.Leu959=)
c.2859C>G (p.Leu953=)
c.2802C>G (p.Leu934=)
c.2736C>G (p.Leu912=)
c.1302C>G (p.Leu434=)
c.654C>G (p.Leu218=)
c.441C>G (p.Leu147=)
c.2715C>G (p.Leu905=)
c.2850C>G (p.Leu950=)
c.2856C>G (p.Leu952=)
c.2772C>G (p.Leu924=)
c.2700C>G (p.Leu900=)
c.2634C>G (p.Leu878=)
c.1995C>G (p.Leu665=)
c.2613C>G (p.Leu871=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813009C>TCA468161017EHMT1c.2871C>T (p.Leu957=)
c.2757C>T (p.Leu919=)
c.2778C>T (p.Leu926=)
c.2911C>T (n.2911C>T)
c.765C>T (p.Leu255=)
c.1728C>T (p.Leu576=)
c.558C>T
n.397C>T
c.2862C>T (p.Leu954=)
c.2853C>T (p.Leu951=)
c.2880C>T (p.Leu960=)
c.2877C>T (p.Leu959=)
c.2859C>T (p.Leu953=)
c.2802C>T (p.Leu934=)
c.2736C>T (p.Leu912=)
c.1302C>T (p.Leu434=)
c.654C>T (p.Leu218=)
c.441C>T (p.Leu147=)
c.2715C>T (p.Leu905=)
c.2850C>T (p.Leu950=)
c.2856C>T (p.Leu952=)
c.2772C>T (p.Leu924=)
c.2700C>T (p.Leu900=)
c.2634C>T (p.Leu878=)
c.1995C>T (p.Leu665=)
c.2613C>T (p.Leu871=)
9g.137813010T>ACA375793171EHMT1c.2872T>A (p.Phe958Ile)
c.2758T>A (p.Phe920Ile)
c.2779T>A (p.Phe927Ile)
c.2912T>A (n.2912T>A)
c.766T>A (p.Phe256Ile)
c.1729T>A (p.Phe577Ile)
c.559T>A
n.398T>A
c.2863T>A (p.Phe955Ile)
c.2854T>A (p.Phe952Ile)
c.2881T>A (p.Phe961Ile)
c.2878T>A (p.Phe960Ile)
c.2860T>A (p.Phe954Ile)
c.2803T>A (p.Phe935Ile)
c.2737T>A (p.Phe913Ile)
c.1303T>A (p.Phe435Ile)
c.655T>A (p.Phe219Ile)
c.442T>A (p.Phe148Ile)
c.2716T>A (p.Phe906Ile)
c.2851T>A (p.Phe951Ile)
c.2857T>A (p.Phe953Ile)
c.2773T>A (p.Phe925Ile)
c.2701T>A (p.Phe901Ile)
c.2635T>A (p.Phe879Ile)
c.1996T>A (p.Phe666Ile)
c.2614T>A (p.Phe872Ile)
9g.137813010T>CCA375793173EHMT1c.2872T>C (p.Phe958Leu)
c.2758T>C (p.Phe920Leu)
c.2779T>C (p.Phe927Leu)
c.2912T>C (n.2912T>C)
c.766T>C (p.Phe256Leu)
c.1729T>C (p.Phe577Leu)
c.559T>C
n.398T>C
c.2863T>C (p.Phe955Leu)
c.2854T>C (p.Phe952Leu)
c.2881T>C (p.Phe961Leu)
c.2878T>C (p.Phe960Leu)
c.2860T>C (p.Phe954Leu)
c.2803T>C (p.Phe935Leu)
c.2737T>C (p.Phe913Leu)
c.1303T>C (p.Phe435Leu)
c.655T>C (p.Phe219Leu)
c.442T>C (p.Phe148Leu)
c.2716T>C (p.Phe906Leu)
c.2851T>C (p.Phe951Leu)
c.2857T>C (p.Phe953Leu)
c.2773T>C (p.Phe925Leu)
c.2701T>C (p.Phe901Leu)
c.2635T>C (p.Phe879Leu)
c.1996T>C (p.Phe666Leu)
c.2614T>C (p.Phe872Leu)
9g.137813010T>GCA375793175EHMT1c.2872T>G (p.Phe958Val)
c.2758T>G (p.Phe920Val)
c.2779T>G (p.Phe927Val)
c.2912T>G (n.2912T>G)
c.766T>G (p.Phe256Val)
c.1729T>G (p.Phe577Val)
c.559T>G
n.398T>G
c.2863T>G (p.Phe955Val)
c.2854T>G (p.Phe952Val)
c.2881T>G (p.Phe961Val)
c.2878T>G (p.Phe960Val)
c.2860T>G (p.Phe954Val)
c.2803T>G (p.Phe935Val)
c.2737T>G (p.Phe913Val)
c.1303T>G (p.Phe435Val)
c.655T>G (p.Phe219Val)
c.442T>G (p.Phe148Val)
c.2716T>G (p.Phe906Val)
c.2851T>G (p.Phe951Val)
c.2857T>G (p.Phe953Val)
c.2773T>G (p.Phe925Val)
c.2701T>G (p.Phe901Val)
c.2635T>G (p.Phe879Val)
c.1996T>G (p.Phe666Val)
c.2614T>G (p.Phe872Val)
9g.137813011T>ACA375793180EHMT1c.2873T>A (p.Phe958Tyr)
c.2759T>A (p.Phe920Tyr)
c.2780T>A (p.Phe927Tyr)
c.2913T>A (n.2913T>A)
c.767T>A (p.Phe256Tyr)
c.1730T>A (p.Phe577Tyr)
c.560T>A
n.399T>A
c.2864T>A (p.Phe955Tyr)
c.2855T>A (p.Phe952Tyr)
c.2882T>A (p.Phe961Tyr)
c.2879T>A (p.Phe960Tyr)
c.2861T>A (p.Phe954Tyr)
c.2804T>A (p.Phe935Tyr)
c.2738T>A (p.Phe913Tyr)
c.1304T>A (p.Phe435Tyr)
c.656T>A (p.Phe219Tyr)
c.443T>A (p.Phe148Tyr)
c.2717T>A (p.Phe906Tyr)
c.2852T>A (p.Phe951Tyr)
c.2858T>A (p.Phe953Tyr)
c.2774T>A (p.Phe925Tyr)
c.2702T>A (p.Phe901Tyr)
c.2636T>A (p.Phe879Tyr)
c.1997T>A (p.Phe666Tyr)
c.2615T>A (p.Phe872Tyr)
9g.137813011T>CCA375793178EHMT1c.2873T>C (p.Phe958Ser)
c.2759T>C (p.Phe920Ser)
c.2780T>C (p.Phe927Ser)
c.2913T>C (n.2913T>C)
c.767T>C (p.Phe256Ser)
c.1730T>C (p.Phe577Ser)
c.560T>C
n.399T>C
c.2864T>C (p.Phe955Ser)
c.2855T>C (p.Phe952Ser)
c.2882T>C (p.Phe961Ser)
c.2879T>C (p.Phe960Ser)
c.2861T>C (p.Phe954Ser)
c.2804T>C (p.Phe935Ser)
c.2738T>C (p.Phe913Ser)
c.1304T>C (p.Phe435Ser)
c.656T>C (p.Phe219Ser)
c.443T>C (p.Phe148Ser)
c.2717T>C (p.Phe906Ser)
c.2852T>C (p.Phe951Ser)
c.2858T>C (p.Phe953Ser)
c.2774T>C (p.Phe925Ser)
c.2702T>C (p.Phe901Ser)
c.2636T>C (p.Phe879Ser)
c.1997T>C (p.Phe666Ser)
c.2615T>C (p.Phe872Ser)
9g.137813011T>GCA375793176EHMT1c.2873T>G (p.Phe958Cys)
c.2759T>G (p.Phe920Cys)
c.2780T>G (p.Phe927Cys)
c.2913T>G (n.2913T>G)
c.767T>G (p.Phe256Cys)
c.1730T>G (p.Phe577Cys)
c.560T>G
n.399T>G
c.2864T>G (p.Phe955Cys)
c.2855T>G (p.Phe952Cys)
c.2882T>G (p.Phe961Cys)
c.2879T>G (p.Phe960Cys)
c.2861T>G (p.Phe954Cys)
c.2804T>G (p.Phe935Cys)
c.2738T>G (p.Phe913Cys)
c.1304T>G (p.Phe435Cys)
c.656T>G (p.Phe219Cys)
c.443T>G (p.Phe148Cys)
c.2717T>G (p.Phe906Cys)
c.2852T>G (p.Phe951Cys)
c.2858T>G (p.Phe953Cys)
c.2774T>G (p.Phe925Cys)
c.2702T>G (p.Phe901Cys)
c.2636T>G (p.Phe879Cys)
c.1997T>G (p.Phe666Cys)
c.2615T>G (p.Phe872Cys)
9g.137813012T>ACA375793181EHMT1c.2874T>A (p.Phe958Leu)
c.2760T>A (p.Phe920Leu)
c.2781T>A (p.Phe927Leu)
c.2914T>A (n.2914T>A)
c.768T>A (p.Phe256Leu)
c.1731T>A (p.Phe577Leu)
c.561T>A
n.400T>A
c.2865T>A (p.Phe955Leu)
c.2856T>A (p.Phe952Leu)
c.2883T>A (p.Phe961Leu)
c.2880T>A (p.Phe960Leu)
c.2862T>A (p.Phe954Leu)
c.2805T>A (p.Phe935Leu)
c.2739T>A (p.Phe913Leu)
c.1305T>A (p.Phe435Leu)
c.657T>A (p.Phe219Leu)
c.444T>A (p.Phe148Leu)
c.2718T>A (p.Phe906Leu)
c.2853T>A (p.Phe951Leu)
c.2859T>A (p.Phe953Leu)
c.2775T>A (p.Phe925Leu)
c.2703T>A (p.Phe901Leu)
c.2637T>A (p.Phe879Leu)
c.1998T>A (p.Phe666Leu)
c.2616T>A (p.Phe872Leu)
9g.137813012T>CCA468161018EHMT1c.2874T>C (p.Phe958=)
c.2760T>C (p.Phe920=)
c.2781T>C (p.Phe927=)
c.2914T>C (n.2914T>C)
c.768T>C (p.Phe256=)
c.1731T>C (p.Phe577=)
c.561T>C
n.400T>C
c.2865T>C (p.Phe955=)
c.2856T>C (p.Phe952=)
c.2883T>C (p.Phe961=)
c.2880T>C (p.Phe960=)
c.2862T>C (p.Phe954=)
c.2805T>C (p.Phe935=)
c.2739T>C (p.Phe913=)
c.1305T>C (p.Phe435=)
c.657T>C (p.Phe219=)
c.444T>C (p.Phe148=)
c.2718T>C (p.Phe906=)
c.2853T>C (p.Phe951=)
c.2859T>C (p.Phe953=)
c.2775T>C (p.Phe925=)
c.2703T>C (p.Phe901=)
c.2637T>C (p.Phe879=)
c.1998T>C (p.Phe666=)
c.2616T>C (p.Phe872=)
9g.137813012T>GCA375793183EHMT1c.2874T>G (p.Phe958Leu)
c.2760T>G (p.Phe920Leu)
c.2781T>G (p.Phe927Leu)
c.2914T>G (n.2914T>G)
c.768T>G (p.Phe256Leu)
c.1731T>G (p.Phe577Leu)
c.561T>G
n.400T>G
c.2865T>G (p.Phe955Leu)
c.2856T>G (p.Phe952Leu)
c.2883T>G (p.Phe961Leu)
c.2880T>G (p.Phe960Leu)
c.2862T>G (p.Phe954Leu)
c.2805T>G (p.Phe935Leu)
c.2739T>G (p.Phe913Leu)
c.1305T>G (p.Phe435Leu)
c.657T>G (p.Phe219Leu)
c.444T>G (p.Phe148Leu)
c.2718T>G (p.Phe906Leu)
c.2853T>G (p.Phe951Leu)
c.2859T>G (p.Phe953Leu)
c.2775T>G (p.Phe925Leu)
c.2703T>G (p.Phe901Leu)
c.2637T>G (p.Phe879Leu)
c.1998T>G (p.Phe666Leu)
c.2616T>G (p.Phe872Leu)
9g.137813013C>ACA375793186EHMT1c.2875C>A (p.Leu959Ile)
c.2761C>A (p.Leu921Ile)
c.2782C>A (p.Leu928Ile)
c.2915C>A (n.2915C>A)
c.769C>A (p.Leu257Ile)
c.1732C>A (p.Leu578Ile)
c.562C>A
n.401C>A
c.2866C>A (p.Leu956Ile)
c.2857C>A (p.Leu953Ile)
c.2884C>A (p.Leu962Ile)
c.2881C>A (p.Leu961Ile)
c.2863C>A (p.Leu955Ile)
c.2806C>A (p.Leu936Ile)
c.2740C>A (p.Leu914Ile)
c.1306C>A (p.Leu436Ile)
c.658C>A (p.Leu220Ile)
c.445C>A (p.Leu149Ile)
c.2719C>A (p.Leu907Ile)
c.2854C>A (p.Leu952Ile)
c.2860C>A (p.Leu954Ile)
c.2776C>A (p.Leu926Ile)
c.2704C>A (p.Leu902Ile)
c.2638C>A (p.Leu880Ile)
c.1999C>A (p.Leu667Ile)
c.2617C>A (p.Leu873Ile)
9g.137813013C>GCA375793187EHMT1c.2875C>G (p.Leu959Val)
c.2761C>G (p.Leu921Val)
c.2782C>G (p.Leu928Val)
c.2915C>G (n.2915C>G)
c.769C>G (p.Leu257Val)
c.1732C>G (p.Leu578Val)
c.562C>G
n.401C>G
c.2866C>G (p.Leu956Val)
c.2857C>G (p.Leu953Val)
c.2884C>G (p.Leu962Val)
c.2881C>G (p.Leu961Val)
c.2863C>G (p.Leu955Val)
c.2806C>G (p.Leu936Val)
c.2740C>G (p.Leu914Val)
c.1306C>G (p.Leu436Val)
c.658C>G (p.Leu220Val)
c.445C>G (p.Leu149Val)
c.2719C>G (p.Leu907Val)
c.2854C>G (p.Leu952Val)
c.2860C>G (p.Leu954Val)
c.2776C>G (p.Leu926Val)
c.2704C>G (p.Leu902Val)
c.2638C>G (p.Leu880Val)
c.1999C>G (p.Leu667Val)
c.2617C>G (p.Leu873Val)
9g.137813013C>TCA375793188EHMT1c.2875C>T (p.Leu959Phe)
c.2761C>T (p.Leu921Phe)
c.2782C>T (p.Leu928Phe)
c.2915C>T (n.2915C>T)
c.769C>T (p.Leu257Phe)
c.1732C>T (p.Leu578Phe)
c.562C>T
n.401C>T
c.2866C>T (p.Leu956Phe)
c.2857C>T (p.Leu953Phe)
c.2884C>T (p.Leu962Phe)
c.2881C>T (p.Leu961Phe)
c.2863C>T (p.Leu955Phe)
c.2806C>T (p.Leu936Phe)
c.2740C>T (p.Leu914Phe)
c.1306C>T (p.Leu436Phe)
c.658C>T (p.Leu220Phe)
c.445C>T (p.Leu149Phe)
c.2719C>T (p.Leu907Phe)
c.2854C>T (p.Leu952Phe)
c.2860C>T (p.Leu954Phe)
c.2776C>T (p.Leu926Phe)
c.2704C>T (p.Leu902Phe)
c.2638C>T (p.Leu880Phe)
c.1999C>T (p.Leu667Phe)
c.2617C>T (p.Leu873Phe)
 ClinVar
9g.137813014T>ACA375793190EHMT1c.2876T>A (p.Leu959His)
c.2762T>A (p.Leu921His)
c.2783T>A (p.Leu928His)
c.2916T>A (n.2916T>A)
c.770T>A (p.Leu257His)
c.1733T>A (p.Leu578His)
c.563T>A
n.402T>A
c.2867T>A (p.Leu956His)
c.2858T>A (p.Leu953His)
c.2885T>A (p.Leu962His)
c.2882T>A (p.Leu961His)
c.2864T>A (p.Leu955His)
c.2807T>A (p.Leu936His)
c.2741T>A (p.Leu914His)
c.1307T>A (p.Leu436His)
c.659T>A (p.Leu220His)
c.446T>A (p.Leu149His)
c.2720T>A (p.Leu907His)
c.2855T>A (p.Leu952His)
c.2861T>A (p.Leu954His)
c.2777T>A (p.Leu926His)
c.2705T>A (p.Leu902His)
c.2639T>A (p.Leu880His)
c.2000T>A (p.Leu667His)
c.2618T>A (p.Leu873His)
9g.137813014T>CCA375793192EHMT1c.2876T>C (p.Leu959Pro)
c.2762T>C (p.Leu921Pro)
c.2783T>C (p.Leu928Pro)
c.2916T>C (n.2916T>C)
c.770T>C (p.Leu257Pro)
c.1733T>C (p.Leu578Pro)
c.563T>C
n.402T>C
c.2867T>C (p.Leu956Pro)
c.2858T>C (p.Leu953Pro)
c.2885T>C (p.Leu962Pro)
c.2882T>C (p.Leu961Pro)
c.2864T>C (p.Leu955Pro)
c.2807T>C (p.Leu936Pro)
c.2741T>C (p.Leu914Pro)
c.1307T>C (p.Leu436Pro)
c.659T>C (p.Leu220Pro)
c.446T>C (p.Leu149Pro)
c.2720T>C (p.Leu907Pro)
c.2855T>C (p.Leu952Pro)
c.2861T>C (p.Leu954Pro)
c.2777T>C (p.Leu926Pro)
c.2705T>C (p.Leu902Pro)
c.2639T>C (p.Leu880Pro)
c.2000T>C (p.Leu667Pro)
c.2618T>C (p.Leu873Pro)
9g.137813014T>GCA375793194EHMT1c.2876T>G (p.Leu959Arg)
c.2762T>G (p.Leu921Arg)
c.2783T>G (p.Leu928Arg)
c.2916T>G (n.2916T>G)
c.770T>G (p.Leu257Arg)
c.1733T>G (p.Leu578Arg)
c.563T>G
n.402T>G
c.2867T>G (p.Leu956Arg)
c.2858T>G (p.Leu953Arg)
c.2885T>G (p.Leu962Arg)
c.2882T>G (p.Leu961Arg)
c.2864T>G (p.Leu955Arg)
c.2807T>G (p.Leu936Arg)
c.2741T>G (p.Leu914Arg)
c.1307T>G (p.Leu436Arg)
c.659T>G (p.Leu220Arg)
c.446T>G (p.Leu149Arg)
c.2720T>G (p.Leu907Arg)
c.2855T>G (p.Leu952Arg)
c.2861T>G (p.Leu954Arg)
c.2777T>G (p.Leu926Arg)
c.2705T>G (p.Leu902Arg)
c.2639T>G (p.Leu880Arg)
c.2000T>G (p.Leu667Arg)
c.2618T>G (p.Leu873Arg)
9g.137813015T>ACA468161019EHMT1c.2877T>A (p.Leu959=)
c.2763T>A (p.Leu921=)
c.2784T>A (p.Leu928=)
c.2917T>A (n.2917T>A)
c.771T>A (p.Leu257=)
c.1734T>A (p.Leu578=)
c.564T>A
n.403T>A
c.2868T>A (p.Leu956=)
c.2859T>A (p.Leu953=)
c.2886T>A (p.Leu962=)
c.2883T>A (p.Leu961=)
c.2865T>A (p.Leu955=)
c.2808T>A (p.Leu936=)
c.2742T>A (p.Leu914=)
c.1308T>A (p.Leu436=)
c.660T>A (p.Leu220=)
c.447T>A (p.Leu149=)
c.2721T>A (p.Leu907=)
c.2856T>A (p.Leu952=)
c.2862T>A (p.Leu954=)
c.2778T>A (p.Leu926=)
c.2706T>A (p.Leu902=)
c.2640T>A (p.Leu880=)
c.2001T>A (p.Leu667=)
c.2619T>A (p.Leu873=)
9g.137813015T>CCA201843116EHMT1c.2877T>C (p.Leu959=)
c.2763T>C (p.Leu921=)
c.2784T>C (p.Leu928=)
c.2917T>C (n.2917T>C)
c.771T>C (p.Leu257=)
c.1734T>C (p.Leu578=)
c.564T>C
n.403T>C
c.2868T>C (p.Leu956=)
c.2859T>C (p.Leu953=)
c.2886T>C (p.Leu962=)
c.2883T>C (p.Leu961=)
c.2865T>C (p.Leu955=)
c.2808T>C (p.Leu936=)
c.2742T>C (p.Leu914=)
c.1308T>C (p.Leu436=)
c.660T>C (p.Leu220=)
c.447T>C (p.Leu149=)
c.2721T>C (p.Leu907=)
c.2856T>C (p.Leu952=)
c.2862T>C (p.Leu954=)
c.2778T>C (p.Leu926=)
c.2706T>C (p.Leu902=)
c.2640T>C (p.Leu880=)
c.2001T>C (p.Leu667=)
c.2619T>C (p.Leu873=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813015T>GCA468161020EHMT1c.2877T>G (p.Leu959=)
c.2763T>G (p.Leu921=)
c.2784T>G (p.Leu928=)
c.2917T>G (n.2917T>G)
c.771T>G (p.Leu257=)
c.1734T>G (p.Leu578=)
c.564T>G
n.403T>G
c.2868T>G (p.Leu956=)
c.2859T>G (p.Leu953=)
c.2886T>G (p.Leu962=)
c.2883T>G (p.Leu961=)
c.2865T>G (p.Leu955=)
c.2808T>G (p.Leu936=)
c.2742T>G (p.Leu914=)
c.1308T>G (p.Leu436=)
c.660T>G (p.Leu220=)
c.447T>G (p.Leu149=)
c.2721T>G (p.Leu907=)
c.2856T>G (p.Leu952=)
c.2862T>G (p.Leu954=)
c.2778T>G (p.Leu926=)
c.2706T>G (p.Leu902=)
c.2640T>G (p.Leu880=)
c.2001T>G (p.Leu667=)
c.2619T>G (p.Leu873=)
9g.137813015T=CA1884685671EHMT1c.2877T= (p.Leu959=)
c.2763T= (p.Leu921=)
c.2784T= (p.Leu928=)
c.2917T= (n.2917T=)
c.771T= (p.Leu257=)
c.1734T= (p.Leu578=)
c.564T=
n.403T=
c.2868T= (p.Leu956=)
c.2859T= (p.Leu953=)
c.2886T= (p.Leu962=)
c.2883T= (p.Leu961=)
c.2865T= (p.Leu955=)
c.2808T= (p.Leu936=)
c.2742T= (p.Leu914=)
c.1308T= (p.Leu436=)
c.660T= (p.Leu220=)
c.447T= (p.Leu149=)
c.2721T= (p.Leu907=)
c.2856T= (p.Leu952=)
c.2862T= (p.Leu954=)
c.2778T= (p.Leu926=)
c.2706T= (p.Leu902=)
c.2640T= (p.Leu880=)
c.2001T= (p.Leu667=)
c.2619T= (p.Leu873=)
9g.137813015_137813019delinsTTCTCCA1884685670EHMT1c.2877_2881delinsTTCTC (p.Leu959=)
c.2763_2767delinsTTCTC (p.Leu921=)
c.2784_2788delinsTTCTC (p.Leu928=)
c.2917_2921delinsTTCTC (n.2917_2921delinsTTCTC)
c.771_775delinsTTCTC (p.Leu257=)
c.1734_1738delinsTTCTC (p.Leu578=)
c.564_568delinsTTCTC
n.403_407delinsTTCTC
c.2868_2872delinsTTCTC (p.Leu956=)
c.2859_2863delinsTTCTC (p.Leu953=)
c.2886_2890delinsTTCTC (p.Leu962=)
c.2883_2887delinsTTCTC (p.Leu961=)
c.2865_2869delinsTTCTC (p.Leu955=)
c.2808_2812delinsTTCTC (p.Leu936=)
c.2742_2746delinsTTCTC (p.Leu914=)
c.1308_1312delinsTTCTC (p.Leu436=)
c.660_664delinsTTCTC (p.Leu220=)
c.447_451delinsTTCTC (p.Leu149=)
c.2721_2725delinsTTCTC (p.Leu907=)
c.2856_2860delinsTTCTC (p.Leu952=)
c.2862_2866delinsTTCTC (p.Leu954=)
c.2778_2782delinsTTCTC (p.Leu926=)
c.2706_2710delinsTTCTC (p.Leu902=)
c.2640_2644delinsTTCTC (p.Leu880=)
c.2001_2005delinsTTCTC (p.Leu667=)
c.2619_2623delinsTTCTC (p.Leu873=)
9g.137813016T>ACA375793197EHMT1c.2878T>A (p.Ser960Thr)
c.2764T>A (p.Ser922Thr)
c.2785T>A (p.Ser929Thr)
c.2918T>A (n.2918T>A)
c.772T>A (p.Ser258Thr)
c.1735T>A (p.Ser579Thr)
c.565T>A
n.404T>A
c.2869T>A (p.Ser957Thr)
c.2860T>A (p.Ser954Thr)
c.2887T>A (p.Ser963Thr)
c.2884T>A (p.Ser962Thr)
c.2866T>A (p.Ser956Thr)
c.2809T>A (p.Ser937Thr)
c.2743T>A (p.Ser915Thr)
c.1309T>A (p.Ser437Thr)
c.661T>A (p.Ser221Thr)
c.448T>A (p.Ser150Thr)
c.2722T>A (p.Ser908Thr)
c.2857T>A (p.Ser953Thr)
c.2863T>A (p.Ser955Thr)
c.2779T>A (p.Ser927Thr)
c.2707T>A (p.Ser903Thr)
c.2641T>A (p.Ser881Thr)
c.2002T>A (p.Ser668Thr)
c.2620T>A (p.Ser874Thr)
9g.137813016T>CCA375793198EHMT1c.2878T>C (p.Ser960Pro)
c.2764T>C (p.Ser922Pro)
c.2785T>C (p.Ser929Pro)
c.2918T>C (n.2918T>C)
c.772T>C (p.Ser258Pro)
c.1735T>C (p.Ser579Pro)
c.565T>C
n.404T>C
c.2869T>C (p.Ser957Pro)
c.2860T>C (p.Ser954Pro)
c.2887T>C (p.Ser963Pro)
c.2884T>C (p.Ser962Pro)
c.2866T>C (p.Ser956Pro)
c.2809T>C (p.Ser937Pro)
c.2743T>C (p.Ser915Pro)
c.1309T>C (p.Ser437Pro)
c.661T>C (p.Ser221Pro)
c.448T>C (p.Ser150Pro)
c.2722T>C (p.Ser908Pro)
c.2857T>C (p.Ser953Pro)
c.2863T>C (p.Ser955Pro)
c.2779T>C (p.Ser927Pro)
c.2707T>C (p.Ser903Pro)
c.2641T>C (p.Ser881Pro)
c.2002T>C (p.Ser668Pro)
c.2620T>C (p.Ser874Pro)
9g.137813016T>GCA375793199EHMT1c.2878T>G (p.Ser960Ala)
c.2764T>G (p.Ser922Ala)
c.2785T>G (p.Ser929Ala)
c.2918T>G (n.2918T>G)
c.772T>G (p.Ser258Ala)
c.1735T>G (p.Ser579Ala)
c.565T>G
n.404T>G
c.2869T>G (p.Ser957Ala)
c.2860T>G (p.Ser954Ala)
c.2887T>G (p.Ser963Ala)
c.2884T>G (p.Ser962Ala)
c.2866T>G (p.Ser956Ala)
c.2809T>G (p.Ser937Ala)
c.2743T>G (p.Ser915Ala)
c.1309T>G (p.Ser437Ala)
c.661T>G (p.Ser221Ala)
c.448T>G (p.Ser150Ala)
c.2722T>G (p.Ser908Ala)
c.2857T>G (p.Ser953Ala)
c.2863T>G (p.Ser955Ala)
c.2779T>G (p.Ser927Ala)
c.2707T>G (p.Ser903Ala)
c.2641T>G (p.Ser881Ala)
c.2002T>G (p.Ser668Ala)
c.2620T>G (p.Ser874Ala)
9g.137813016_137813019delCA201843129EHMT1c.2878_2881del (p.Ser960GlyfsTer7)
c.2764_2767del (p.Ser922GlyfsTer7)
c.2785_2788del (p.Ser929GlyfsTer7)
c.2918_2921del (n.2918_2921del)
c.772_775del (p.Ser258GlyfsTer7)
c.1735_1738del (p.Ser579GlyfsTer7)
c.565_568del
n.404_407del
c.2869_2872del (p.Ser957GlyfsTer7)
c.2860_2863del (p.Ser954GlyfsTer7)
c.2887_2890del (p.Ser963GlyfsTer7)
c.2884_2887del (p.Ser962GlyfsTer7)
c.2866_2869del (p.Ser956GlyfsTer7)
c.2809_2812del (p.Ser937GlyfsTer7)
c.2743_2746del (p.Ser915GlyfsTer7)
c.1309_1312del (p.Ser437GlyfsTer7)
c.661_664del (p.Ser221GlyfsTer7)
c.448_451del (p.Ser150GlyfsTer7)
c.2722_2725del (p.Ser908GlyfsTer7)
c.2857_2860del (p.Ser953GlyfsTer7)
c.2863_2866del (p.Ser955GlyfsTer7)
c.2779_2782del (p.Ser927GlyfsTer7)
c.2707_2710del (p.Ser903GlyfsTer7)
c.2641_2644del (p.Ser881GlyfsTer7)
c.2002_2005del (p.Ser668GlyfsTer7)
c.2620_2623del (p.Ser874GlyfsTer7)
 dbSNP
9g.137813017C>ACA5375098EHMT1c.2879C>A (p.Ser960Tyr)
c.2765C>A (p.Ser922Tyr)
c.2786C>A (p.Ser929Tyr)
c.2919C>A (n.2919C>A)
c.773C>A (p.Ser258Tyr)
c.1736C>A (p.Ser579Tyr)
c.566C>A
n.405C>A
c.2870C>A (p.Ser957Tyr)
c.2861C>A (p.Ser954Tyr)
c.2888C>A (p.Ser963Tyr)
c.2885C>A (p.Ser962Tyr)
c.2867C>A (p.Ser956Tyr)
c.2810C>A (p.Ser937Tyr)
c.2744C>A (p.Ser915Tyr)
c.1310C>A (p.Ser437Tyr)
c.662C>A (p.Ser221Tyr)
c.449C>A (p.Ser150Tyr)
c.2723C>A (p.Ser908Tyr)
c.2858C>A (p.Ser953Tyr)
c.2864C>A (p.Ser955Tyr)
c.2780C>A (p.Ser927Tyr)
c.2708C>A (p.Ser903Tyr)
c.2642C>A (p.Ser881Tyr)
c.2003C>A (p.Ser668Tyr)
c.2621C>A (p.Ser874Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813017C=CA1884685672EHMT1c.2879C= (p.Ser960=)
c.2765C= (p.Ser922=)
c.2786C= (p.Ser929=)
c.2919C= (n.2919C=)
c.773C= (p.Ser258=)
c.1736C= (p.Ser579=)
c.566C=
n.405C=
c.2870C= (p.Ser957=)
c.2861C= (p.Ser954=)
c.2888C= (p.Ser963=)
c.2885C= (p.Ser962=)
c.2867C= (p.Ser956=)
c.2810C= (p.Ser937=)
c.2744C= (p.Ser915=)
c.1310C= (p.Ser437=)
c.662C= (p.Ser221=)
c.449C= (p.Ser150=)
c.2723C= (p.Ser908=)
c.2858C= (p.Ser953=)
c.2864C= (p.Ser955=)
c.2780C= (p.Ser927=)
c.2708C= (p.Ser903=)
c.2642C= (p.Ser881=)
c.2003C= (p.Ser668=)
c.2621C= (p.Ser874=)
9g.137813017C>GCA375793203EHMT1c.2879C>G (p.Ser960Cys)
c.2765C>G (p.Ser922Cys)
c.2786C>G (p.Ser929Cys)
c.2919C>G (n.2919C>G)
c.773C>G (p.Ser258Cys)
c.1736C>G (p.Ser579Cys)
c.566C>G
n.405C>G
c.2870C>G (p.Ser957Cys)
c.2861C>G (p.Ser954Cys)
c.2888C>G (p.Ser963Cys)
c.2885C>G (p.Ser962Cys)
c.2867C>G (p.Ser956Cys)
c.2810C>G (p.Ser937Cys)
c.2744C>G (p.Ser915Cys)
c.1310C>G (p.Ser437Cys)
c.662C>G (p.Ser221Cys)
c.449C>G (p.Ser150Cys)
c.2723C>G (p.Ser908Cys)
c.2858C>G (p.Ser953Cys)
c.2864C>G (p.Ser955Cys)
c.2780C>G (p.Ser927Cys)
c.2708C>G (p.Ser903Cys)
c.2642C>G (p.Ser881Cys)
c.2003C>G (p.Ser668Cys)
c.2621C>G (p.Ser874Cys)
9g.137813017C>TCA375793204EHMT1c.2879C>T (p.Ser960Phe)
c.2765C>T (p.Ser922Phe)
c.2786C>T (p.Ser929Phe)
c.2919C>T (n.2919C>T)
c.773C>T (p.Ser258Phe)
c.1736C>T (p.Ser579Phe)
c.566C>T
n.405C>T
c.2870C>T (p.Ser957Phe)
c.2861C>T (p.Ser954Phe)
c.2888C>T (p.Ser963Phe)
c.2885C>T (p.Ser962Phe)
c.2867C>T (p.Ser956Phe)
c.2810C>T (p.Ser937Phe)
c.2744C>T (p.Ser915Phe)
c.1310C>T (p.Ser437Phe)
c.662C>T (p.Ser221Phe)
c.449C>T (p.Ser150Phe)
c.2723C>T (p.Ser908Phe)
c.2858C>T (p.Ser953Phe)
c.2864C>T (p.Ser955Phe)
c.2780C>T (p.Ser927Phe)
c.2708C>T (p.Ser903Phe)
c.2642C>T (p.Ser881Phe)
c.2003C>T (p.Ser668Phe)
c.2621C>T (p.Ser874Phe)
9g.137813018T>ACA468161021EHMT1c.2880T>A (p.Ser960=)
c.2766T>A (p.Ser922=)
c.2787T>A (p.Ser929=)
c.2920T>A (n.2920T>A)
c.774T>A (p.Ser258=)
c.1737T>A (p.Ser579=)
c.567T>A
n.406T>A
c.2871T>A (p.Ser957=)
c.2862T>A (p.Ser954=)
c.2889T>A (p.Ser963=)
c.2886T>A (p.Ser962=)
c.2868T>A (p.Ser956=)
c.2811T>A (p.Ser937=)
c.2745T>A (p.Ser915=)
c.1311T>A (p.Ser437=)
c.663T>A (p.Ser221=)
c.450T>A (p.Ser150=)
c.2724T>A (p.Ser908=)
c.2859T>A (p.Ser953=)
c.2865T>A (p.Ser955=)
c.2781T>A (p.Ser927=)
c.2709T>A (p.Ser903=)
c.2643T>A (p.Ser881=)
c.2004T>A (p.Ser668=)
c.2622T>A (p.Ser874=)
 dbSNP gnomAD v2 gnomAD v4
9g.137813018T>CCA468161022EHMT1c.2880T>C (p.Ser960=)
c.2766T>C (p.Ser922=)
c.2787T>C (p.Ser929=)
c.2920T>C (n.2920T>C)
c.774T>C (p.Ser258=)
c.1737T>C (p.Ser579=)
c.567T>C
n.406T>C
c.2871T>C (p.Ser957=)
c.2862T>C (p.Ser954=)
c.2889T>C (p.Ser963=)
c.2886T>C (p.Ser962=)
c.2868T>C (p.Ser956=)
c.2811T>C (p.Ser937=)
c.2745T>C (p.Ser915=)
c.1311T>C (p.Ser437=)
c.663T>C (p.Ser221=)
c.450T>C (p.Ser150=)
c.2724T>C (p.Ser908=)
c.2859T>C (p.Ser953=)
c.2865T>C (p.Ser955=)
c.2781T>C (p.Ser927=)
c.2709T>C (p.Ser903=)
c.2643T>C (p.Ser881=)
c.2004T>C (p.Ser668=)
c.2622T>C (p.Ser874=)
9g.137813018T>GCA468161023EHMT1c.2880T>G (p.Ser960=)
c.2766T>G (p.Ser922=)
c.2787T>G (p.Ser929=)
c.2920T>G (n.2920T>G)
c.774T>G (p.Ser258=)
c.1737T>G (p.Ser579=)
c.567T>G
n.406T>G
c.2871T>G (p.Ser957=)
c.2862T>G (p.Ser954=)
c.2889T>G (p.Ser963=)
c.2886T>G (p.Ser962=)
c.2868T>G (p.Ser956=)
c.2811T>G (p.Ser937=)
c.2745T>G (p.Ser915=)
c.1311T>G (p.Ser437=)
c.663T>G (p.Ser221=)
c.450T>G (p.Ser150=)
c.2724T>G (p.Ser908=)
c.2859T>G (p.Ser953=)
c.2865T>G (p.Ser955=)
c.2781T>G (p.Ser927=)
c.2709T>G (p.Ser903=)
c.2643T>G (p.Ser881=)
c.2004T>G (p.Ser668=)
c.2622T>G (p.Ser874=)
9g.137813018T=CA1884685673EHMT1c.2880T= (p.Ser960=)
c.2766T= (p.Ser922=)
c.2787T= (p.Ser929=)
c.2920T= (n.2920T=)
c.774T= (p.Ser258=)
c.1737T= (p.Ser579=)
c.567T=
n.406T=
c.2871T= (p.Ser957=)
c.2862T= (p.Ser954=)
c.2889T= (p.Ser963=)
c.2886T= (p.Ser962=)
c.2868T= (p.Ser956=)
c.2811T= (p.Ser937=)
c.2745T= (p.Ser915=)
c.1311T= (p.Ser437=)
c.663T= (p.Ser221=)
c.450T= (p.Ser150=)
c.2724T= (p.Ser908=)
c.2859T= (p.Ser953=)
c.2865T= (p.Ser955=)
c.2781T= (p.Ser927=)
c.2709T= (p.Ser903=)
c.2643T= (p.Ser881=)
c.2004T= (p.Ser668=)
c.2622T= (p.Ser874=)
9g.137813019C>ACA468161024EHMT1c.2881C>A (p.Arg961=)
c.2767C>A (p.Arg923=)
c.2788C>A (p.Arg930=)
c.2921C>A (n.2921C>A)
c.775C>A (p.Arg259=)
c.1738C>A (p.Arg580=)
c.568C>A
n.407C>A
c.2872C>A (p.Arg958=)
c.2863C>A (p.Arg955=)
c.2890C>A (p.Arg964=)
c.2887C>A (p.Arg963=)
c.2869C>A (p.Arg957=)
c.2812C>A (p.Arg938=)
c.2746C>A (p.Arg916=)
c.1312C>A (p.Arg438=)
c.664C>A (p.Arg222=)
c.451C>A (p.Arg151=)
c.2725C>A (p.Arg909=)
c.2860C>A (p.Arg954=)
c.2866C>A (p.Arg956=)
c.2782C>A (p.Arg928=)
c.2710C>A (p.Arg904=)
c.2644C>A (p.Arg882=)
c.2005C>A (p.Arg669=)
c.2623C>A (p.Arg875=)
9g.137813019C>GCA375793208EHMT1c.2881C>G (p.Arg961Gly)
c.2767C>G (p.Arg923Gly)
c.2788C>G (p.Arg930Gly)
c.2921C>G (n.2921C>G)
c.775C>G (p.Arg259Gly)
c.1738C>G (p.Arg580Gly)
c.568C>G
n.407C>G
c.2872C>G (p.Arg958Gly)
c.2863C>G (p.Arg955Gly)
c.2890C>G (p.Arg964Gly)
c.2887C>G (p.Arg963Gly)
c.2869C>G (p.Arg957Gly)
c.2812C>G (p.Arg938Gly)
c.2746C>G (p.Arg916Gly)
c.1312C>G (p.Arg438Gly)
c.664C>G (p.Arg222Gly)
c.451C>G (p.Arg151Gly)
c.2725C>G (p.Arg909Gly)
c.2860C>G (p.Arg954Gly)
c.2866C>G (p.Arg956Gly)
c.2782C>G (p.Arg928Gly)
c.2710C>G (p.Arg904Gly)
c.2644C>G (p.Arg882Gly)
c.2005C>G (p.Arg669Gly)
c.2623C>G (p.Arg875Gly)
9g.137813019C>TCA375793209EHMT1c.2881C>T (p.Arg961Trp)
c.2767C>T (p.Arg923Trp)
c.2788C>T (p.Arg930Trp)
c.2921C>T (n.2921C>T)
c.775C>T (p.Arg259Trp)
c.1738C>T (p.Arg580Trp)
c.568C>T
n.407C>T
c.2872C>T (p.Arg958Trp)
c.2863C>T (p.Arg955Trp)
c.2890C>T (p.Arg964Trp)
c.2887C>T (p.Arg963Trp)
c.2869C>T (p.Arg957Trp)
c.2812C>T (p.Arg938Trp)
c.2746C>T (p.Arg916Trp)
c.1312C>T (p.Arg438Trp)
c.664C>T (p.Arg222Trp)
c.451C>T (p.Arg151Trp)
c.2725C>T (p.Arg909Trp)
c.2860C>T (p.Arg954Trp)
c.2866C>T (p.Arg956Trp)
c.2782C>T (p.Arg928Trp)
c.2710C>T (p.Arg904Trp)
c.2644C>T (p.Arg882Trp)
c.2005C>T (p.Arg669Trp)
c.2623C>T (p.Arg875Trp)
 gnomAD v4 COSMIC COSMIC
9g.137813020G>ACA10633344EHMT1c.2882G>A (p.Arg961Gln)
c.2768G>A (p.Arg923Gln)
c.2789G>A (p.Arg930Gln)
c.2922G>A (n.2922G>A)
c.776G>A (p.Arg259Gln)
c.1739G>A (p.Arg580Gln)
c.569G>A
n.408G>A
c.2873G>A (p.Arg958Gln)
c.2864G>A (p.Arg955Gln)
c.2891G>A (p.Arg964Gln)
c.2888G>A (p.Arg963Gln)
c.2870G>A (p.Arg957Gln)
c.2813G>A (p.Arg938Gln)
c.2747G>A (p.Arg916Gln)
c.1313G>A (p.Arg438Gln)
c.665G>A (p.Arg222Gln)
c.452G>A (p.Arg151Gln)
c.2726G>A (p.Arg909Gln)
c.2861G>A (p.Arg954Gln)
c.2867G>A (p.Arg956Gln)
c.2783G>A (p.Arg928Gln)
c.2711G>A (p.Arg904Gln)
c.2645G>A (p.Arg882Gln)
c.2006G>A (p.Arg669Gln)
c.2624G>A (p.Arg875Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137813020G>CCA375793213EHMT1c.2882G>C (p.Arg961Pro)
c.2768G>C (p.Arg923Pro)
c.2789G>C (p.Arg930Pro)
c.2922G>C (n.2922G>C)
c.776G>C (p.Arg259Pro)
c.1739G>C (p.Arg580Pro)
c.569G>C
n.408G>C
c.2873G>C (p.Arg958Pro)
c.2864G>C (p.Arg955Pro)
c.2891G>C (p.Arg964Pro)
c.2888G>C (p.Arg963Pro)
c.2870G>C (p.Arg957Pro)
c.2813G>C (p.Arg938Pro)
c.2747G>C (p.Arg916Pro)
c.1313G>C (p.Arg438Pro)
c.665G>C (p.Arg222Pro)
c.452G>C (p.Arg151Pro)
c.2726G>C (p.Arg909Pro)
c.2861G>C (p.Arg954Pro)
c.2867G>C (p.Arg956Pro)
c.2783G>C (p.Arg928Pro)
c.2711G>C (p.Arg904Pro)
c.2645G>C (p.Arg882Pro)
c.2006G>C (p.Arg669Pro)
c.2624G>C (p.Arg875Pro)
9g.137813020G=CA1884685674EHMT1c.2882G= (p.Arg961=)
c.2768G= (p.Arg923=)
c.2789G= (p.Arg930=)
c.2922G= (n.2922G=)
c.776G= (p.Arg259=)
c.1739G= (p.Arg580=)
c.569G=
n.408G=
c.2873G= (p.Arg958=)
c.2864G= (p.Arg955=)
c.2891G= (p.Arg964=)
c.2888G= (p.Arg963=)
c.2870G= (p.Arg957=)
c.2813G= (p.Arg938=)
c.2747G= (p.Arg916=)
c.1313G= (p.Arg438=)
c.665G= (p.Arg222=)
c.452G= (p.Arg151=)
c.2726G= (p.Arg909=)
c.2861G= (p.Arg954=)
c.2867G= (p.Arg956=)
c.2783G= (p.Arg928=)
c.2711G= (p.Arg904=)
c.2645G= (p.Arg882=)
c.2006G= (p.Arg669=)
c.2624G= (p.Arg875=)
9g.137813020G>TCA375793212EHMT1c.2882G>T (p.Arg961Leu)
c.2768G>T (p.Arg923Leu)
c.2789G>T (p.Arg930Leu)
c.2922G>T (n.2922G>T)
c.776G>T (p.Arg259Leu)
c.1739G>T (p.Arg580Leu)
c.569G>T
n.408G>T
c.2873G>T (p.Arg958Leu)
c.2864G>T (p.Arg955Leu)
c.2891G>T (p.Arg964Leu)
c.2888G>T (p.Arg963Leu)
c.2870G>T (p.Arg957Leu)
c.2813G>T (p.Arg938Leu)
c.2747G>T (p.Arg916Leu)
c.1313G>T (p.Arg438Leu)
c.665G>T (p.Arg222Leu)
c.452G>T (p.Arg151Leu)
c.2726G>T (p.Arg909Leu)
c.2861G>T (p.Arg954Leu)
c.2867G>T (p.Arg956Leu)
c.2783G>T (p.Arg928Leu)
c.2711G>T (p.Arg904Leu)
c.2645G>T (p.Arg882Leu)
c.2006G>T (p.Arg669Leu)
c.2624G>T (p.Arg875Leu)
9g.137813021G>ACA468161025EHMT1c.2883G>A (p.Arg961=)
c.2769G>A (p.Arg923=)
c.2790G>A (p.Arg930=)
c.2923G>A (n.2923G>A)
c.777G>A (p.Arg259=)
c.1740G>A (p.Arg580=)
c.570G>A
n.409G>A
c.2874G>A (p.Arg958=)
c.2865G>A (p.Arg955=)
c.2892G>A (p.Arg964=)
c.2889G>A (p.Arg963=)
c.2871G>A (p.Arg957=)
c.2814G>A (p.Arg938=)
c.2748G>A (p.Arg916=)
c.1314G>A (p.Arg438=)
c.666G>A (p.Arg222=)
c.453G>A (p.Arg151=)
c.2727G>A (p.Arg909=)
c.2862G>A (p.Arg954=)
c.2868G>A (p.Arg956=)
c.2784G>A (p.Arg928=)
c.2712G>A (p.Arg904=)
c.2646G>A (p.Arg882=)
c.2007G>A (p.Arg669=)
c.2625G>A (p.Arg875=)
9g.137813021G>CCA468161026EHMT1c.2883G>C (p.Arg961=)
c.2769G>C (p.Arg923=)
c.2790G>C (p.Arg930=)
c.2923G>C (n.2923G>C)
c.777G>C (p.Arg259=)
c.1740G>C (p.Arg580=)
c.570G>C
n.409G>C
c.2874G>C (p.Arg958=)
c.2865G>C (p.Arg955=)
c.2892G>C (p.Arg964=)
c.2889G>C (p.Arg963=)
c.2871G>C (p.Arg957=)
c.2814G>C (p.Arg938=)
c.2748G>C (p.Arg916=)
c.1314G>C (p.Arg438=)
c.666G>C (p.Arg222=)
c.453G>C (p.Arg151=)
c.2727G>C (p.Arg909=)
c.2862G>C (p.Arg954=)
c.2868G>C (p.Arg956=)
c.2784G>C (p.Arg928=)
c.2712G>C (p.Arg904=)
c.2646G>C (p.Arg882=)
c.2007G>C (p.Arg669=)
c.2625G>C (p.Arg875=)
9g.137813021G>TCA468161027EHMT1c.2883G>T (p.Arg961=)
c.2769G>T (p.Arg923=)
c.2790G>T (p.Arg930=)
c.2923G>T (n.2923G>T)
c.777G>T (p.Arg259=)
c.1740G>T (p.Arg580=)
c.570G>T
n.409G>T
c.2874G>T (p.Arg958=)
c.2865G>T (p.Arg955=)
c.2892G>T (p.Arg964=)
c.2889G>T (p.Arg963=)
c.2871G>T (p.Arg957=)
c.2814G>T (p.Arg938=)
c.2748G>T (p.Arg916=)
c.1314G>T (p.Arg438=)
c.666G>T (p.Arg222=)
c.453G>T (p.Arg151=)
c.2727G>T (p.Arg909=)
c.2862G>T (p.Arg954=)
c.2868G>T (p.Arg956=)
c.2784G>T (p.Arg928=)
c.2712G>T (p.Arg904=)
c.2646G>T (p.Arg882=)
c.2007G>T (p.Arg669=)
c.2625G>T (p.Arg875=)
9g.137813022G>ACA375793215EHMT1c.2884G>A (p.Asp962Asn)
c.2770G>A (p.Asp924Asn)
c.2791G>A (p.Asp931Asn)
c.2924G>A (n.2924G>A)
c.778G>A (p.Asp260Asn)
c.1741G>A (p.Asp581Asn)
c.571G>A
n.410G>A
c.2875G>A (p.Asp959Asn)
c.2866G>A (p.Asp956Asn)
c.2893G>A (p.Asp965Asn)
c.2890G>A (p.Asp964Asn)
c.2872G>A (p.Asp958Asn)
c.2815G>A (p.Asp939Asn)
c.2749G>A (p.Asp917Asn)
c.1315G>A (p.Asp439Asn)
c.667G>A (p.Asp223Asn)
c.454G>A (p.Asp152Asn)
c.2728G>A (p.Asp910Asn)
c.2863G>A (p.Asp955Asn)
c.2869G>A (p.Asp957Asn)
c.2785G>A (p.Asp929Asn)
c.2713G>A (p.Asp905Asn)
c.2647G>A (p.Asp883Asn)
c.2008G>A (p.Asp670Asn)
c.2626G>A (p.Asp876Asn)
9g.137813022G>CCA375793216EHMT1c.2884G>C (p.Asp962His)
c.2770G>C (p.Asp924His)
c.2791G>C (p.Asp931His)
c.2924G>C (n.2924G>C)
c.778G>C (p.Asp260His)
c.1741G>C (p.Asp581His)
c.571G>C
n.410G>C
c.2875G>C (p.Asp959His)
c.2866G>C (p.Asp956His)
c.2893G>C (p.Asp965His)
c.2890G>C (p.Asp964His)
c.2872G>C (p.Asp958His)
c.2815G>C (p.Asp939His)
c.2749G>C (p.Asp917His)
c.1315G>C (p.Asp439His)
c.667G>C (p.Asp223His)
c.454G>C (p.Asp152His)
c.2728G>C (p.Asp910His)
c.2863G>C (p.Asp955His)
c.2869G>C (p.Asp957His)
c.2785G>C (p.Asp929His)
c.2713G>C (p.Asp905His)
c.2647G>C (p.Asp883His)
c.2008G>C (p.Asp670His)
c.2626G>C (p.Asp876His)
9g.137813022G>TCA375793218EHMT1c.2884G>T (p.Asp962Tyr)
c.2770G>T (p.Asp924Tyr)
c.2791G>T (p.Asp931Tyr)
c.2924G>T (n.2924G>T)
c.778G>T (p.Asp260Tyr)
c.1741G>T (p.Asp581Tyr)
c.571G>T
n.410G>T
c.2875G>T (p.Asp959Tyr)
c.2866G>T (p.Asp956Tyr)
c.2893G>T (p.Asp965Tyr)
c.2890G>T (p.Asp964Tyr)
c.2872G>T (p.Asp958Tyr)
c.2815G>T (p.Asp939Tyr)
c.2749G>T (p.Asp917Tyr)
c.1315G>T (p.Asp439Tyr)
c.667G>T (p.Asp223Tyr)
c.454G>T (p.Asp152Tyr)
c.2728G>T (p.Asp910Tyr)
c.2863G>T (p.Asp955Tyr)
c.2869G>T (p.Asp957Tyr)
c.2785G>T (p.Asp929Tyr)
c.2713G>T (p.Asp905Tyr)
c.2647G>T (p.Asp883Tyr)
c.2008G>T (p.Asp670Tyr)
c.2626G>T (p.Asp876Tyr)
9g.137813023A>CCA375793220EHMT1c.2885A>C (p.Asp962Ala)
c.2771A>C (p.Asp924Ala)
c.2792A>C (p.Asp931Ala)
c.2925A>C (n.2925A>C)
c.779A>C (p.Asp260Ala)
c.1742A>C (p.Asp581Ala)
c.572A>C
n.411A>C
c.2876A>C (p.Asp959Ala)
c.2867A>C (p.Asp956Ala)
c.2894A>C (p.Asp965Ala)
c.2891A>C (p.Asp964Ala)
c.2873A>C (p.Asp958Ala)
c.2816A>C (p.Asp939Ala)
c.2750A>C (p.Asp917Ala)
c.1316A>C (p.Asp439Ala)
c.668A>C (p.Asp223Ala)
c.455A>C (p.Asp152Ala)
c.2729A>C (p.Asp910Ala)
c.2864A>C (p.Asp955Ala)
c.2870A>C (p.Asp957Ala)
c.2786A>C (p.Asp929Ala)
c.2714A>C (p.Asp905Ala)
c.2648A>C (p.Asp883Ala)
c.2009A>C (p.Asp670Ala)
c.2627A>C (p.Asp876Ala)
9g.137813023A>GCA375793222EHMT1c.2885A>G (p.Asp962Gly)
c.2771A>G (p.Asp924Gly)
c.2792A>G (p.Asp931Gly)
c.2925A>G (n.2925A>G)
c.779A>G (p.Asp260Gly)
c.1742A>G (p.Asp581Gly)
c.572A>G
n.411A>G
c.2876A>G (p.Asp959Gly)
c.2867A>G (p.Asp956Gly)
c.2894A>G (p.Asp965Gly)
c.2891A>G (p.Asp964Gly)
c.2873A>G (p.Asp958Gly)
c.2816A>G (p.Asp939Gly)
c.2750A>G (p.Asp917Gly)
c.1316A>G (p.Asp439Gly)
c.668A>G (p.Asp223Gly)
c.455A>G (p.Asp152Gly)
c.2729A>G (p.Asp910Gly)
c.2864A>G (p.Asp955Gly)
c.2870A>G (p.Asp957Gly)
c.2786A>G (p.Asp929Gly)
c.2714A>G (p.Asp905Gly)
c.2648A>G (p.Asp883Gly)
c.2009A>G (p.Asp670Gly)
c.2627A>G (p.Asp876Gly)
9g.137813023A>TCA375793224EHMT1c.2885A>T (p.Asp962Val)
c.2771A>T (p.Asp924Val)
c.2792A>T (p.Asp931Val)
c.2925A>T (n.2925A>T)
c.779A>T (p.Asp260Val)
c.1742A>T (p.Asp581Val)
c.572A>T
n.411A>T
c.2876A>T (p.Asp959Val)
c.2867A>T (p.Asp956Val)
c.2894A>T (p.Asp965Val)
c.2891A>T (p.Asp964Val)
c.2873A>T (p.Asp958Val)
c.2816A>T (p.Asp939Val)
c.2750A>T (p.Asp917Val)
c.1316A>T (p.Asp439Val)
c.668A>T (p.Asp223Val)
c.455A>T (p.Asp152Val)
c.2729A>T (p.Asp910Val)
c.2864A>T (p.Asp955Val)
c.2870A>T (p.Asp957Val)
c.2786A>T (p.Asp929Val)
c.2714A>T (p.Asp905Val)
c.2648A>T (p.Asp883Val)
c.2009A>T (p.Asp670Val)
c.2627A>T (p.Asp876Val)
9g.137813024T>ACA375793225EHMT1c.2886T>A (p.Asp962Glu)
c.2772T>A (p.Asp924Glu)
c.2793T>A (p.Asp931Glu)
c.2926T>A (n.2926T>A)
c.780T>A (p.Asp260Glu)
c.1743T>A (p.Asp581Glu)
c.573T>A
n.412T>A
c.2877T>A (p.Asp959Glu)
c.2868T>A (p.Asp956Glu)
c.2895T>A (p.Asp965Glu)
c.2892T>A (p.Asp964Glu)
c.2874T>A (p.Asp958Glu)
c.2817T>A (p.Asp939Glu)
c.2751T>A (p.Asp917Glu)
c.1317T>A (p.Asp439Glu)
c.669T>A (p.Asp223Glu)
c.456T>A (p.Asp152Glu)
c.2730T>A (p.Asp910Glu)
c.2865T>A (p.Asp955Glu)
c.2871T>A (p.Asp957Glu)
c.2787T>A (p.Asp929Glu)
c.2715T>A (p.Asp905Glu)
c.2649T>A (p.Asp883Glu)
c.2010T>A (p.Asp670Glu)
c.2628T>A (p.Asp876Glu)
9g.137813024T>CCA468161028EHMT1c.2886T>C (p.Asp962=)
c.2772T>C (p.Asp924=)
c.2793T>C (p.Asp931=)
c.2926T>C (n.2926T>C)
c.780T>C (p.Asp260=)
c.1743T>C (p.Asp581=)
c.573T>C
n.412T>C
c.2877T>C (p.Asp959=)
c.2868T>C (p.Asp956=)
c.2895T>C (p.Asp965=)
c.2892T>C (p.Asp964=)
c.2874T>C (p.Asp958=)
c.2817T>C (p.Asp939=)
c.2751T>C (p.Asp917=)
c.1317T>C (p.Asp439=)
c.669T>C (p.Asp223=)
c.456T>C (p.Asp152=)
c.2730T>C (p.Asp910=)
c.2865T>C (p.Asp955=)
c.2871T>C (p.Asp957=)
c.2787T>C (p.Asp929=)
c.2715T>C (p.Asp905=)
c.2649T>C (p.Asp883=)
c.2010T>C (p.Asp670=)
c.2628T>C (p.Asp876=)
9g.137813024T>GCA375793226EHMT1c.2886T>G (p.Asp962Glu)
c.2772T>G (p.Asp924Glu)
c.2793T>G (p.Asp931Glu)
c.2926T>G (n.2926T>G)
c.780T>G (p.Asp260Glu)
c.1743T>G (p.Asp581Glu)
c.573T>G
n.412T>G
c.2877T>G (p.Asp959Glu)
c.2868T>G (p.Asp956Glu)
c.2895T>G (p.Asp965Glu)
c.2892T>G (p.Asp964Glu)
c.2874T>G (p.Asp958Glu)
c.2817T>G (p.Asp939Glu)
c.2751T>G (p.Asp917Glu)
c.1317T>G (p.Asp439Glu)
c.669T>G (p.Asp223Glu)
c.456T>G (p.Asp152Glu)
c.2730T>G (p.Asp910Glu)
c.2865T>G (p.Asp955Glu)
c.2871T>G (p.Asp957Glu)
c.2787T>G (p.Asp929Glu)
c.2715T>G (p.Asp905Glu)
c.2649T>G (p.Asp883Glu)
c.2010T>G (p.Asp670Glu)
c.2628T>G (p.Asp876Glu)
9g.137813025T>ACA375793228EHMT1c.2887T>A (p.Ser963Thr)
c.2773T>A (p.Ser925Thr)
c.2794T>A (p.Ser932Thr)
c.2927T>A (n.2927T>A)
c.781T>A (p.Ser261Thr)
c.1744T>A (p.Ser582Thr)
c.574T>A
n.413T>A
c.2878T>A (p.Ser960Thr)
c.2869T>A (p.Ser957Thr)
c.2896T>A (p.Ser966Thr)
c.2893T>A (p.Ser965Thr)
c.2875T>A (p.Ser959Thr)
c.2818T>A (p.Ser940Thr)
c.2752T>A (p.Ser918Thr)
c.1318T>A (p.Ser440Thr)
c.670T>A (p.Ser224Thr)
c.457T>A (p.Ser153Thr)
c.2731T>A (p.Ser911Thr)
c.2866T>A (p.Ser956Thr)
c.2872T>A (p.Ser958Thr)
c.2788T>A (p.Ser930Thr)
c.2716T>A (p.Ser906Thr)
c.2650T>A (p.Ser884Thr)
c.2011T>A (p.Ser671Thr)
c.2629T>A (p.Ser877Thr)
9g.137813025T>CCA375793230EHMT1c.2887T>C (p.Ser963Pro)
c.2773T>C (p.Ser925Pro)
c.2794T>C (p.Ser932Pro)
c.2927T>C (n.2927T>C)
c.781T>C (p.Ser261Pro)
c.1744T>C (p.Ser582Pro)
c.574T>C
n.413T>C
c.2878T>C (p.Ser960Pro)
c.2869T>C (p.Ser957Pro)
c.2896T>C (p.Ser966Pro)
c.2893T>C (p.Ser965Pro)
c.2875T>C (p.Ser959Pro)
c.2818T>C (p.Ser940Pro)
c.2752T>C (p.Ser918Pro)
c.1318T>C (p.Ser440Pro)
c.670T>C (p.Ser224Pro)
c.457T>C (p.Ser153Pro)
c.2731T>C (p.Ser911Pro)
c.2866T>C (p.Ser956Pro)
c.2872T>C (p.Ser958Pro)
c.2788T>C (p.Ser930Pro)
c.2716T>C (p.Ser906Pro)
c.2650T>C (p.Ser884Pro)
c.2011T>C (p.Ser671Pro)
c.2629T>C (p.Ser877Pro)
9g.137813025T>GCA375793232EHMT1c.2887T>G (p.Ser963Ala)
c.2773T>G (p.Ser925Ala)
c.2794T>G (p.Ser932Ala)
c.2927T>G (n.2927T>G)
c.781T>G (p.Ser261Ala)
c.1744T>G (p.Ser582Ala)
c.574T>G
n.413T>G
c.2878T>G (p.Ser960Ala)
c.2869T>G (p.Ser957Ala)
c.2896T>G (p.Ser966Ala)
c.2893T>G (p.Ser965Ala)
c.2875T>G (p.Ser959Ala)
c.2818T>G (p.Ser940Ala)
c.2752T>G (p.Ser918Ala)
c.1318T>G (p.Ser440Ala)
c.670T>G (p.Ser224Ala)
c.457T>G (p.Ser153Ala)
c.2731T>G (p.Ser911Ala)
c.2866T>G (p.Ser956Ala)
c.2872T>G (p.Ser958Ala)
c.2788T>G (p.Ser930Ala)
c.2716T>G (p.Ser906Ala)
c.2650T>G (p.Ser884Ala)
c.2011T>G (p.Ser671Ala)
c.2629T>G (p.Ser877Ala)
9g.137813026C>ACA375793239EHMT1c.2888C>A (p.Ser963Ter)
c.2774C>A (p.Ser925Ter)
c.2795C>A (p.Ser932Ter)
c.2928C>A (n.2928C>A)
c.782C>A (p.Ser261Ter)
c.1745C>A (p.Ser582Ter)
c.575C>A
n.414C>A
c.2879C>A (p.Ser960Ter)
c.2870C>A (p.Ser957Ter)
c.2897C>A (p.Ser966Ter)
c.2894C>A (p.Ser965Ter)
c.2876C>A (p.Ser959Ter)
c.2819C>A (p.Ser940Ter)
c.2753C>A (p.Ser918Ter)
c.1319C>A (p.Ser440Ter)
c.671C>A (p.Ser224Ter)
c.458C>A (p.Ser153Ter)
c.2732C>A (p.Ser911Ter)
c.2867C>A (p.Ser956Ter)
c.2873C>A (p.Ser958Ter)
c.2789C>A (p.Ser930Ter)
c.2717C>A (p.Ser906Ter)
c.2651C>A (p.Ser884Ter)
c.2012C>A (p.Ser671Ter)
c.2630C>A (p.Ser877Ter)
9g.137813026C>GCA375793235EHMT1c.2888C>G (p.Ser963Ter)
c.2774C>G (p.Ser925Ter)
c.2795C>G (p.Ser932Ter)
c.2928C>G (n.2928C>G)
c.782C>G (p.Ser261Ter)
c.1745C>G (p.Ser582Ter)
c.575C>G
n.414C>G
c.2879C>G (p.Ser960Ter)
c.2870C>G (p.Ser957Ter)
c.2897C>G (p.Ser966Ter)
c.2894C>G (p.Ser965Ter)
c.2876C>G (p.Ser959Ter)
c.2819C>G (p.Ser940Ter)
c.2753C>G (p.Ser918Ter)
c.1319C>G (p.Ser440Ter)
c.671C>G (p.Ser224Ter)
c.458C>G (p.Ser153Ter)
c.2732C>G (p.Ser911Ter)
c.2867C>G (p.Ser956Ter)
c.2873C>G (p.Ser958Ter)
c.2789C>G (p.Ser930Ter)
c.2717C>G (p.Ser906Ter)
c.2651C>G (p.Ser884Ter)
c.2012C>G (p.Ser671Ter)
c.2630C>G (p.Ser877Ter)
9g.137813026C>TCA375793237EHMT1c.2888C>T (p.Ser963Leu)
c.2774C>T (p.Ser925Leu)
c.2795C>T (p.Ser932Leu)
c.2928C>T (n.2928C>T)
c.782C>T (p.Ser261Leu)
c.1745C>T (p.Ser582Leu)
c.575C>T
n.414C>T
c.2879C>T (p.Ser960Leu)
c.2870C>T (p.Ser957Leu)
c.2897C>T (p.Ser966Leu)
c.2894C>T (p.Ser965Leu)
c.2876C>T (p.Ser959Leu)
c.2819C>T (p.Ser940Leu)
c.2753C>T (p.Ser918Leu)
c.1319C>T (p.Ser440Leu)
c.671C>T (p.Ser224Leu)
c.458C>T (p.Ser153Leu)
c.2732C>T (p.Ser911Leu)
c.2867C>T (p.Ser956Leu)
c.2873C>T (p.Ser958Leu)
c.2789C>T (p.Ser930Leu)
c.2717C>T (p.Ser906Leu)
c.2651C>T (p.Ser884Leu)
c.2012C>T (p.Ser671Leu)
c.2630C>T (p.Ser877Leu)
9g.137813027A>CCA468161029EHMT1c.2889A>C (p.Ser963=)
c.2775A>C (p.Ser925=)
c.2796A>C (p.Ser932=)
c.2929A>C (n.2929A>C)
c.783A>C (p.Ser261=)
c.1746A>C (p.Ser582=)
c.576A>C
n.415A>C
c.2880A>C (p.Ser960=)
c.2871A>C (p.Ser957=)
c.2898A>C (p.Ser966=)
c.2895A>C (p.Ser965=)
c.2877A>C (p.Ser959=)
c.2820A>C (p.Ser940=)
c.2754A>C (p.Ser918=)
c.1320A>C (p.Ser440=)
c.672A>C (p.Ser224=)
c.459A>C (p.Ser153=)
c.2733A>C (p.Ser911=)
c.2868A>C (p.Ser956=)
c.2874A>C (p.Ser958=)
c.2790A>C (p.Ser930=)
c.2718A>C (p.Ser906=)
c.2652A>C (p.Ser884=)
c.2013A>C (p.Ser671=)
c.2631A>C (p.Ser877=)
 gnomAD v4
9g.137813027A>GCA468161030EHMT1c.2889A>G (p.Ser963=)
c.2775A>G (p.Ser925=)
c.2796A>G (p.Ser932=)
c.2929A>G (n.2929A>G)
c.783A>G (p.Ser261=)
c.1746A>G (p.Ser582=)
c.576A>G
n.415A>G
c.2880A>G (p.Ser960=)
c.2871A>G (p.Ser957=)
c.2898A>G (p.Ser966=)
c.2895A>G (p.Ser965=)
c.2877A>G (p.Ser959=)
c.2820A>G (p.Ser940=)
c.2754A>G (p.Ser918=)
c.1320A>G (p.Ser440=)
c.672A>G (p.Ser224=)
c.459A>G (p.Ser153=)
c.2733A>G (p.Ser911=)
c.2868A>G (p.Ser956=)
c.2874A>G (p.Ser958=)
c.2790A>G (p.Ser930=)
c.2718A>G (p.Ser906=)
c.2652A>G (p.Ser884=)
c.2013A>G (p.Ser671=)
c.2631A>G (p.Ser877=)
 gnomAD v4
9g.137813027A>TCA468161031EHMT1c.2889A>T (p.Ser963=)
c.2775A>T (p.Ser925=)
c.2796A>T (p.Ser932=)
c.2929A>T (n.2929A>T)
c.783A>T (p.Ser261=)
c.1746A>T (p.Ser582=)
c.576A>T
n.415A>T
c.2880A>T (p.Ser960=)
c.2871A>T (p.Ser957=)
c.2898A>T (p.Ser966=)
c.2895A>T (p.Ser965=)
c.2877A>T (p.Ser959=)
c.2820A>T (p.Ser940=)
c.2754A>T (p.Ser918=)
c.1320A>T (p.Ser440=)
c.672A>T (p.Ser224=)
c.459A>T (p.Ser153=)
c.2733A>T (p.Ser911=)
c.2868A>T (p.Ser956=)
c.2874A>T (p.Ser958=)
c.2790A>T (p.Ser930=)
c.2718A>T (p.Ser906=)
c.2652A>T (p.Ser884=)
c.2013A>T (p.Ser671=)
c.2631A>T (p.Ser877=)
9g.137813028G>ACA375793242EHMT1c.2890G>A (p.Asp964Asn)
c.2776G>A (p.Asp926Asn)
c.2797G>A (p.Asp933Asn)
c.2930G>A (n.2930G>A)
c.784G>A (p.Asp262Asn)
c.1747G>A (p.Asp583Asn)
c.577G>A
n.416G>A
c.2881G>A (p.Asp961Asn)
c.2872G>A (p.Asp958Asn)
c.2899G>A (p.Asp967Asn)
c.2896G>A (p.Asp966Asn)
c.2878G>A (p.Asp960Asn)
c.2821G>A (p.Asp941Asn)
c.2755G>A (p.Asp919Asn)
c.1321G>A (p.Asp441Asn)
c.673G>A (p.Asp225Asn)
c.460G>A (p.Asp154Asn)
c.2734G>A (p.Asp912Asn)
c.2869G>A (p.Asp957Asn)
c.2875G>A (p.Asp959Asn)
c.2791G>A (p.Asp931Asn)
c.2719G>A (p.Asp907Asn)
c.2653G>A (p.Asp885Asn)
c.2014G>A (p.Asp672Asn)
c.2632G>A (p.Asp878Asn)
 COSMIC COSMIC
9g.137813028G>CCA375793244EHMT1c.2890G>C (p.Asp964His)
c.2776G>C (p.Asp926His)
c.2797G>C (p.Asp933His)
c.2930G>C (n.2930G>C)
c.784G>C (p.Asp262His)
c.1747G>C (p.Asp583His)
c.577G>C
n.416G>C
c.2881G>C (p.Asp961His)
c.2872G>C (p.Asp958His)
c.2899G>C (p.Asp967His)
c.2896G>C (p.Asp966His)
c.2878G>C (p.Asp960His)
c.2821G>C (p.Asp941His)
c.2755G>C (p.Asp919His)
c.1321G>C (p.Asp441His)
c.673G>C (p.Asp225His)
c.460G>C (p.Asp154His)
c.2734G>C (p.Asp912His)
c.2869G>C (p.Asp957His)
c.2875G>C (p.Asp959His)
c.2791G>C (p.Asp931His)
c.2719G>C (p.Asp907His)
c.2653G>C (p.Asp885His)
c.2014G>C (p.Asp672His)
c.2632G>C (p.Asp878His)
 gnomAD v4
9g.137813028G>TCA375793245EHMT1c.2890G>T (p.Asp964Tyr)
c.2776G>T (p.Asp926Tyr)
c.2797G>T (p.Asp933Tyr)
c.2930G>T (n.2930G>T)
c.784G>T (p.Asp262Tyr)
c.1747G>T (p.Asp583Tyr)
c.577G>T
n.416G>T
c.2881G>T (p.Asp961Tyr)
c.2872G>T (p.Asp958Tyr)
c.2899G>T (p.Asp967Tyr)
c.2896G>T (p.Asp966Tyr)
c.2878G>T (p.Asp960Tyr)
c.2821G>T (p.Asp941Tyr)
c.2755G>T (p.Asp919Tyr)
c.1321G>T (p.Asp441Tyr)
c.673G>T (p.Asp225Tyr)
c.460G>T (p.Asp154Tyr)
c.2734G>T (p.Asp912Tyr)
c.2869G>T (p.Asp957Tyr)
c.2875G>T (p.Asp959Tyr)
c.2791G>T (p.Asp931Tyr)
c.2719G>T (p.Asp907Tyr)
c.2653G>T (p.Asp885Tyr)
c.2014G>T (p.Asp672Tyr)
c.2632G>T (p.Asp878Tyr)
9g.137813029A>CCA375793248EHMT1c.2891A>C (p.Asp964Ala)
c.2777A>C (p.Asp926Ala)
c.2798A>C (p.Asp933Ala)
c.2931A>C (n.2931A>C)
c.785A>C (p.Asp262Ala)
c.1748A>C (p.Asp583Ala)
c.578A>C
n.417A>C
c.2882A>C (p.Asp961Ala)
c.2873A>C (p.Asp958Ala)
c.2900A>C (p.Asp967Ala)
c.2897A>C (p.Asp966Ala)
c.2879A>C (p.Asp960Ala)
c.2822A>C (p.Asp941Ala)
c.2756A>C (p.Asp919Ala)
c.1322A>C (p.Asp441Ala)
c.674A>C (p.Asp225Ala)
c.461A>C (p.Asp154Ala)
c.2735A>C (p.Asp912Ala)
c.2870A>C (p.Asp957Ala)
c.2876A>C (p.Asp959Ala)
c.2792A>C (p.Asp931Ala)
c.2720A>C (p.Asp907Ala)
c.2654A>C (p.Asp885Ala)
c.2015A>C (p.Asp672Ala)
c.2633A>C (p.Asp878Ala)
9g.137813029A>GCA375793250EHMT1c.2891A>G (p.Asp964Gly)
c.2777A>G (p.Asp926Gly)
c.2798A>G (p.Asp933Gly)
c.2931A>G (n.2931A>G)
c.785A>G (p.Asp262Gly)
c.1748A>G (p.Asp583Gly)
c.578A>G
n.417A>G
c.2882A>G (p.Asp961Gly)
c.2873A>G (p.Asp958Gly)
c.2900A>G (p.Asp967Gly)
c.2897A>G (p.Asp966Gly)
c.2879A>G (p.Asp960Gly)
c.2822A>G (p.Asp941Gly)
c.2756A>G (p.Asp919Gly)
c.1322A>G (p.Asp441Gly)
c.674A>G (p.Asp225Gly)
c.461A>G (p.Asp154Gly)
c.2735A>G (p.Asp912Gly)
c.2870A>G (p.Asp957Gly)
c.2876A>G (p.Asp959Gly)
c.2792A>G (p.Asp931Gly)
c.2720A>G (p.Asp907Gly)
c.2654A>G (p.Asp885Gly)
c.2015A>G (p.Asp672Gly)
c.2633A>G (p.Asp878Gly)
9g.137813029A>TCA375793251EHMT1c.2891A>T (p.Asp964Val)
c.2777A>T (p.Asp926Val)
c.2798A>T (p.Asp933Val)
c.2931A>T (n.2931A>T)
c.785A>T (p.Asp262Val)
c.1748A>T (p.Asp583Val)
c.578A>T
n.417A>T
c.2882A>T (p.Asp961Val)
c.2873A>T (p.Asp958Val)
c.2900A>T (p.Asp967Val)
c.2897A>T (p.Asp966Val)
c.2879A>T (p.Asp960Val)
c.2822A>T (p.Asp941Val)
c.2756A>T (p.Asp919Val)
c.1322A>T (p.Asp441Val)
c.674A>T (p.Asp225Val)
c.461A>T (p.Asp154Val)
c.2735A>T (p.Asp912Val)
c.2870A>T (p.Asp957Val)
c.2876A>T (p.Asp959Val)
c.2792A>T (p.Asp931Val)
c.2720A>T (p.Asp907Val)
c.2654A>T (p.Asp885Val)
c.2015A>T (p.Asp672Val)
c.2633A>T (p.Asp878Val)
9g.137813030T>ACA375793254EHMT1c.2892T>A (p.Asp964Glu)
c.2778T>A (p.Asp926Glu)
c.2799T>A (p.Asp933Glu)
c.2932T>A (n.2932T>A)
c.786T>A (p.Asp262Glu)
c.1749T>A (p.Asp583Glu)
c.579T>A
n.418T>A
c.2883T>A (p.Asp961Glu)
c.2874T>A (p.Asp958Glu)
c.2901T>A (p.Asp967Glu)
c.2898T>A (p.Asp966Glu)
c.2880T>A (p.Asp960Glu)
c.2823T>A (p.Asp941Glu)
c.2757T>A (p.Asp919Glu)
c.1323T>A (p.Asp441Glu)
c.675T>A (p.Asp225Glu)
c.462T>A (p.Asp154Glu)
c.2736T>A (p.Asp912Glu)
c.2871T>A (p.Asp957Glu)
c.2877T>A (p.Asp959Glu)
c.2793T>A (p.Asp931Glu)
c.2721T>A (p.Asp907Glu)
c.2655T>A (p.Asp885Glu)
c.2016T>A (p.Asp672Glu)
c.2634T>A (p.Asp878Glu)
9g.137813030T>CCA468161032EHMT1c.2892T>C (p.Asp964=)
c.2778T>C (p.Asp926=)
c.2799T>C (p.Asp933=)
c.2932T>C (n.2932T>C)
c.786T>C (p.Asp262=)
c.1749T>C (p.Asp583=)
c.579T>C
n.418T>C
c.2883T>C (p.Asp961=)
c.2874T>C (p.Asp958=)
c.2901T>C (p.Asp967=)
c.2898T>C (p.Asp966=)
c.2880T>C (p.Asp960=)
c.2823T>C (p.Asp941=)
c.2757T>C (p.Asp919=)
c.1323T>C (p.Asp441=)
c.675T>C (p.Asp225=)
c.462T>C (p.Asp154=)
c.2736T>C (p.Asp912=)
c.2871T>C (p.Asp957=)
c.2877T>C (p.Asp959=)
c.2793T>C (p.Asp931=)
c.2721T>C (p.Asp907=)
c.2655T>C (p.Asp885=)
c.2016T>C (p.Asp672=)
c.2634T>C (p.Asp878=)
9g.137813030T>GCA375793256EHMT1c.2892T>G (p.Asp964Glu)
c.2778T>G (p.Asp926Glu)
c.2799T>G (p.Asp933Glu)
c.2932T>G (n.2932T>G)
c.786T>G (p.Asp262Glu)
c.1749T>G (p.Asp583Glu)
c.579T>G
n.418T>G
c.2883T>G (p.Asp961Glu)
c.2874T>G (p.Asp958Glu)
c.2901T>G (p.Asp967Glu)
c.2898T>G (p.Asp966Glu)
c.2880T>G (p.Asp960Glu)
c.2823T>G (p.Asp941Glu)
c.2757T>G (p.Asp919Glu)
c.1323T>G (p.Asp441Glu)
c.675T>G (p.Asp225Glu)
c.462T>G (p.Asp154Glu)
c.2736T>G (p.Asp912Glu)
c.2871T>G (p.Asp957Glu)
c.2877T>G (p.Asp959Glu)
c.2793T>G (p.Asp931Glu)
c.2721T>G (p.Asp907Glu)
c.2655T>G (p.Asp885Glu)
c.2016T>G (p.Asp672Glu)
c.2634T>G (p.Asp878Glu)
9g.137813031G>ACA375793258EHMT1c.2893G>A (p.Val965Ile)
c.2779G>A (p.Val927Ile)
c.2800G>A (p.Val934Ile)
c.2933G>A (n.2933G>A)
c.787G>A (p.Val263Ile)
c.1750G>A (p.Val584Ile)
c.580G>A
n.419G>A
c.2884G>A (p.Val962Ile)
c.2875G>A (p.Val959Ile)
c.2902G>A (p.Val968Ile)
c.2899G>A (p.Val967Ile)
c.2881G>A (p.Val961Ile)
c.2824G>A (p.Val942Ile)
c.2758G>A (p.Val920Ile)
c.1324G>A (p.Val442Ile)
c.676G>A (p.Val226Ile)
c.463G>A (p.Val155Ile)
c.2737G>A (p.Val913Ile)
c.2872G>A (p.Val958Ile)
c.2878G>A (p.Val960Ile)
c.2794G>A (p.Val932Ile)
c.2722G>A (p.Val908Ile)
c.2656G>A (p.Val886Ile)
c.2017G>A (p.Val673Ile)
c.2635G>A (p.Val879Ile)
 gnomAD v4
9g.137813031G>CCA375793261EHMT1c.2893G>C (p.Val965Leu)
c.2779G>C (p.Val927Leu)
c.2800G>C (p.Val934Leu)
c.2933G>C (n.2933G>C)
c.787G>C (p.Val263Leu)
c.1750G>C (p.Val584Leu)
c.580G>C
n.419G>C
c.2884G>C (p.Val962Leu)
c.2875G>C (p.Val959Leu)
c.2902G>C (p.Val968Leu)
c.2899G>C (p.Val967Leu)
c.2881G>C (p.Val961Leu)
c.2824G>C (p.Val942Leu)
c.2758G>C (p.Val920Leu)
c.1324G>C (p.Val442Leu)
c.676G>C (p.Val226Leu)
c.463G>C (p.Val155Leu)
c.2737G>C (p.Val913Leu)
c.2872G>C (p.Val958Leu)
c.2878G>C (p.Val960Leu)
c.2794G>C (p.Val932Leu)
c.2722G>C (p.Val908Leu)
c.2656G>C (p.Val886Leu)
c.2017G>C (p.Val673Leu)
c.2635G>C (p.Val879Leu)
9g.137813031G>TCA375793263EHMT1c.2893G>T (p.Val965Phe)
c.2779G>T (p.Val927Phe)
c.2800G>T (p.Val934Phe)
c.2933G>T (n.2933G>T)
c.787G>T (p.Val263Phe)
c.1750G>T (p.Val584Phe)
c.580G>T
n.419G>T
c.2884G>T (p.Val962Phe)
c.2875G>T (p.Val959Phe)
c.2902G>T (p.Val968Phe)
c.2899G>T (p.Val967Phe)
c.2881G>T (p.Val961Phe)
c.2824G>T (p.Val942Phe)
c.2758G>T (p.Val920Phe)
c.1324G>T (p.Val442Phe)
c.676G>T (p.Val226Phe)
c.463G>T (p.Val155Phe)
c.2737G>T (p.Val913Phe)
c.2872G>T (p.Val958Phe)
c.2878G>T (p.Val960Phe)
c.2794G>T (p.Val932Phe)
c.2722G>T (p.Val908Phe)
c.2656G>T (p.Val886Phe)
c.2017G>T (p.Val673Phe)
c.2635G>T (p.Val879Phe)
9g.137813032T>ACA375793266EHMT1c.2894T>A (p.Val965Asp)
c.2780T>A (p.Val927Asp)
c.2801T>A (p.Val934Asp)
c.2934T>A (n.2934T>A)
c.788T>A (p.Val263Asp)
c.1751T>A (p.Val584Asp)
c.581T>A
n.420T>A
c.2885T>A (p.Val962Asp)
c.2876T>A (p.Val959Asp)
c.2903T>A (p.Val968Asp)
c.2900T>A (p.Val967Asp)
c.2882T>A (p.Val961Asp)
c.2825T>A (p.Val942Asp)
c.2759T>A (p.Val920Asp)
c.1325T>A (p.Val442Asp)
c.677T>A (p.Val226Asp)
c.464T>A (p.Val155Asp)
c.2738T>A (p.Val913Asp)
c.2873T>A (p.Val958Asp)
c.2879T>A (p.Val960Asp)
c.2795T>A (p.Val932Asp)
c.2723T>A (p.Val908Asp)
c.2657T>A (p.Val886Asp)
c.2018T>A (p.Val673Asp)
c.2636T>A (p.Val879Asp)
9g.137813032T>CCA375793268EHMT1c.2894T>C (p.Val965Ala)
c.2780T>C (p.Val927Ala)
c.2801T>C (p.Val934Ala)
c.2934T>C (n.2934T>C)
c.788T>C (p.Val263Ala)
c.1751T>C (p.Val584Ala)
c.581T>C
n.420T>C
c.2885T>C (p.Val962Ala)
c.2876T>C (p.Val959Ala)
c.2903T>C (p.Val968Ala)
c.2900T>C (p.Val967Ala)
c.2882T>C (p.Val961Ala)
c.2825T>C (p.Val942Ala)
c.2759T>C (p.Val920Ala)
c.1325T>C (p.Val442Ala)
c.677T>C (p.Val226Ala)
c.464T>C (p.Val155Ala)
c.2738T>C (p.Val913Ala)
c.2873T>C (p.Val958Ala)
c.2879T>C (p.Val960Ala)
c.2795T>C (p.Val932Ala)
c.2723T>C (p.Val908Ala)
c.2657T>C (p.Val886Ala)
c.2018T>C (p.Val673Ala)
c.2636T>C (p.Val879Ala)
9g.137813032T>GCA375793265EHMT1c.2894T>G (p.Val965Gly)
c.2780T>G (p.Val927Gly)
c.2801T>G (p.Val934Gly)
c.2934T>G (n.2934T>G)
c.788T>G (p.Val263Gly)
c.1751T>G (p.Val584Gly)
c.581T>G
n.420T>G
c.2885T>G (p.Val962Gly)
c.2876T>G (p.Val959Gly)
c.2903T>G (p.Val968Gly)
c.2900T>G (p.Val967Gly)
c.2882T>G (p.Val961Gly)
c.2825T>G (p.Val942Gly)
c.2759T>G (p.Val920Gly)
c.1325T>G (p.Val442Gly)
c.677T>G (p.Val226Gly)
c.464T>G (p.Val155Gly)
c.2738T>G (p.Val913Gly)
c.2873T>G (p.Val958Gly)
c.2879T>G (p.Val960Gly)
c.2795T>G (p.Val932Gly)
c.2723T>G (p.Val908Gly)
c.2657T>G (p.Val886Gly)
c.2018T>G (p.Val673Gly)
c.2636T>G (p.Val879Gly)
9g.137813033C>ACA468161033EHMT1c.2895C>A (p.Val965=)
c.2781C>A (p.Val927=)
c.2802C>A (p.Val934=)
c.2935C>A (n.2935C>A)
c.789C>A (p.Val263=)
c.1752C>A (p.Val584=)
c.582C>A
n.421C>A
c.2886C>A (p.Val962=)
c.2877C>A (p.Val959=)
c.2904C>A (p.Val968=)
c.2901C>A (p.Val967=)
c.2883C>A (p.Val961=)
c.2826C>A (p.Val942=)
c.2760C>A (p.Val920=)
c.1326C>A (p.Val442=)
c.678C>A (p.Val226=)
c.465C>A (p.Val155=)
c.2739C>A (p.Val913=)
c.2874C>A (p.Val958=)
c.2880C>A (p.Val960=)
c.2796C>A (p.Val932=)
c.2724C>A (p.Val908=)
c.2658C>A (p.Val886=)
c.2019C>A (p.Val673=)
c.2637C>A (p.Val879=)
 gnomAD v4
9g.137813033C>GCA468161034EHMT1c.2895C>G (p.Val965=)
c.2781C>G (p.Val927=)
c.2802C>G (p.Val934=)
c.2935C>G (n.2935C>G)
c.789C>G (p.Val263=)
c.1752C>G (p.Val584=)
c.582C>G
n.421C>G
c.2886C>G (p.Val962=)
c.2877C>G (p.Val959=)
c.2904C>G (p.Val968=)
c.2901C>G (p.Val967=)
c.2883C>G (p.Val961=)
c.2826C>G (p.Val942=)
c.2760C>G (p.Val920=)
c.1326C>G (p.Val442=)
c.678C>G (p.Val226=)
c.465C>G (p.Val155=)
c.2739C>G (p.Val913=)
c.2874C>G (p.Val958=)
c.2880C>G (p.Val960=)
c.2796C>G (p.Val932=)
c.2724C>G (p.Val908=)
c.2658C>G (p.Val886=)
c.2019C>G (p.Val673=)
c.2637C>G (p.Val879=)
9g.137813033C>TCA468161035EHMT1c.2895C>T (p.Val965=)
c.2781C>T (p.Val927=)
c.2802C>T (p.Val934=)
c.2935C>T (n.2935C>T)
c.789C>T (p.Val263=)
c.1752C>T (p.Val584=)
c.582C>T
n.421C>T
c.2886C>T (p.Val962=)
c.2877C>T (p.Val959=)
c.2904C>T (p.Val968=)
c.2901C>T (p.Val967=)
c.2883C>T (p.Val961=)
c.2826C>T (p.Val942=)
c.2760C>T (p.Val920=)
c.1326C>T (p.Val442=)
c.678C>T (p.Val226=)
c.465C>T (p.Val155=)
c.2739C>T (p.Val913=)
c.2874C>T (p.Val958=)
c.2880C>T (p.Val960=)
c.2796C>T (p.Val932=)
c.2724C>T (p.Val908=)
c.2658C>T (p.Val886=)
c.2019C>T (p.Val673=)
c.2637C>T (p.Val879=)
 gnomAD v4
9g.137813034A=CA1884685675EHMT1c.2896A= (p.Thr966=)
c.2782A= (p.Thr928=)
c.2803A= (p.Thr935=)
c.2936A= (n.2936A=)
c.790A= (p.Thr264=)
c.1753A= (p.Thr585=)
c.583A=
n.422A=
c.2887A= (p.Thr963=)
c.2878A= (p.Thr960=)
c.2905A= (p.Thr969=)
c.2902A= (p.Thr968=)
c.2884A= (p.Thr962=)
c.2827A= (p.Thr943=)
c.2761A= (p.Thr921=)
c.1327A= (p.Thr443=)
c.679A= (p.Thr227=)
c.466A= (p.Thr156=)
c.2740A= (p.Thr914=)
c.2875A= (p.Thr959=)
c.2881A= (p.Thr961=)
c.2797A= (p.Thr933=)
c.2725A= (p.Thr909=)
c.2659A= (p.Thr887=)
c.2020A= (p.Thr674=)
c.2638A= (p.Thr880=)
9g.137813034A>CCA201843137EHMT1c.2896A>C (p.Thr966Pro)
c.2782A>C (p.Thr928Pro)
c.2803A>C (p.Thr935Pro)
c.2936A>C (n.2936A>C)
c.790A>C (p.Thr264Pro)
c.1753A>C (p.Thr585Pro)
c.583A>C
n.422A>C
c.2887A>C (p.Thr963Pro)
c.2878A>C (p.Thr960Pro)
c.2905A>C (p.Thr969Pro)
c.2902A>C (p.Thr968Pro)
c.2884A>C (p.Thr962Pro)
c.2827A>C (p.Thr943Pro)
c.2761A>C (p.Thr921Pro)
c.1327A>C (p.Thr443Pro)
c.679A>C (p.Thr227Pro)
c.466A>C (p.Thr156Pro)
c.2740A>C (p.Thr914Pro)
c.2875A>C (p.Thr959Pro)
c.2881A>C (p.Thr961Pro)
c.2797A>C (p.Thr933Pro)
c.2725A>C (p.Thr909Pro)
c.2659A>C (p.Thr887Pro)
c.2020A>C (p.Thr674Pro)
c.2638A>C (p.Thr880Pro)
 dbSNP
9g.137813034A>GCA375793272EHMT1c.2896A>G (p.Thr966Ala)
c.2782A>G (p.Thr928Ala)
c.2803A>G (p.Thr935Ala)
c.2936A>G (n.2936A>G)
c.790A>G (p.Thr264Ala)
c.1753A>G (p.Thr585Ala)
c.583A>G
n.422A>G
c.2887A>G (p.Thr963Ala)
c.2878A>G (p.Thr960Ala)
c.2905A>G (p.Thr969Ala)
c.2902A>G (p.Thr968Ala)
c.2884A>G (p.Thr962Ala)
c.2827A>G (p.Thr943Ala)
c.2761A>G (p.Thr921Ala)
c.1327A>G (p.Thr443Ala)
c.679A>G (p.Thr227Ala)
c.466A>G (p.Thr156Ala)
c.2740A>G (p.Thr914Ala)
c.2875A>G (p.Thr959Ala)
c.2881A>G (p.Thr961Ala)
c.2797A>G (p.Thr933Ala)
c.2725A>G (p.Thr909Ala)
c.2659A>G (p.Thr887Ala)
c.2020A>G (p.Thr674Ala)
c.2638A>G (p.Thr880Ala)
9g.137813034A>TCA375793273EHMT1c.2896A>T (p.Thr966Ser)
c.2782A>T (p.Thr928Ser)
c.2803A>T (p.Thr935Ser)
c.2936A>T (n.2936A>T)
c.790A>T (p.Thr264Ser)
c.1753A>T (p.Thr585Ser)
c.583A>T
n.422A>T
c.2887A>T (p.Thr963Ser)
c.2878A>T (p.Thr960Ser)
c.2905A>T (p.Thr969Ser)
c.2902A>T (p.Thr968Ser)
c.2884A>T (p.Thr962Ser)
c.2827A>T (p.Thr943Ser)
c.2761A>T (p.Thr921Ser)
c.1327A>T (p.Thr443Ser)
c.679A>T (p.Thr227Ser)
c.466A>T (p.Thr156Ser)
c.2740A>T (p.Thr914Ser)
c.2875A>T (p.Thr959Ser)
c.2881A>T (p.Thr961Ser)
c.2797A>T (p.Thr933Ser)
c.2725A>T (p.Thr909Ser)
c.2659A>T (p.Thr887Ser)
c.2020A>T (p.Thr674Ser)
c.2638A>T (p.Thr880Ser)
9g.137813035C>ACA375793275EHMT1c.2897C>A (p.Thr966Asn)
c.2783C>A (p.Thr928Asn)
c.2804C>A (p.Thr935Asn)
c.2937C>A (n.2937C>A)
c.791C>A (p.Thr264Asn)
c.1754C>A (p.Thr585Asn)
c.584C>A
n.423C>A
c.2888C>A (p.Thr963Asn)
c.2879C>A (p.Thr960Asn)
c.2906C>A (p.Thr969Asn)
c.2903C>A (p.Thr968Asn)
c.2885C>A (p.Thr962Asn)
c.2828C>A (p.Thr943Asn)
c.2762C>A (p.Thr921Asn)
c.1328C>A (p.Thr443Asn)
c.680C>A (p.Thr227Asn)
c.467C>A (p.Thr156Asn)
c.2741C>A (p.Thr914Asn)
c.2876C>A (p.Thr959Asn)
c.2882C>A (p.Thr961Asn)
c.2798C>A (p.Thr933Asn)
c.2726C>A (p.Thr909Asn)
c.2660C>A (p.Thr887Asn)
c.2021C>A (p.Thr674Asn)
c.2639C>A (p.Thr880Asn)
9g.137813035C>GCA375793277EHMT1c.2897C>G (p.Thr966Ser)
c.2783C>G (p.Thr928Ser)
c.2804C>G (p.Thr935Ser)
c.2937C>G (n.2937C>G)
c.791C>G (p.Thr264Ser)
c.1754C>G (p.Thr585Ser)
c.584C>G
n.423C>G
c.2888C>G (p.Thr963Ser)
c.2879C>G (p.Thr960Ser)
c.2906C>G (p.Thr969Ser)
c.2903C>G (p.Thr968Ser)
c.2885C>G (p.Thr962Ser)
c.2828C>G (p.Thr943Ser)
c.2762C>G (p.Thr921Ser)
c.1328C>G (p.Thr443Ser)
c.680C>G (p.Thr227Ser)
c.467C>G (p.Thr156Ser)
c.2741C>G (p.Thr914Ser)
c.2876C>G (p.Thr959Ser)
c.2882C>G (p.Thr961Ser)
c.2798C>G (p.Thr933Ser)
c.2726C>G (p.Thr909Ser)
c.2660C>G (p.Thr887Ser)
c.2021C>G (p.Thr674Ser)
c.2639C>G (p.Thr880Ser)
9g.137813035C>TCA375793278EHMT1c.2897C>T (p.Thr966Ile)
c.2783C>T (p.Thr928Ile)
c.2804C>T (p.Thr935Ile)
c.2937C>T (n.2937C>T)
c.791C>T (p.Thr264Ile)
c.1754C>T (p.Thr585Ile)
c.584C>T
n.423C>T
c.2888C>T (p.Thr963Ile)
c.2879C>T (p.Thr960Ile)
c.2906C>T (p.Thr969Ile)
c.2903C>T (p.Thr968Ile)
c.2885C>T (p.Thr962Ile)
c.2828C>T (p.Thr943Ile)
c.2762C>T (p.Thr921Ile)
c.1328C>T (p.Thr443Ile)
c.680C>T (p.Thr227Ile)
c.467C>T (p.Thr156Ile)
c.2741C>T (p.Thr914Ile)
c.2876C>T (p.Thr959Ile)
c.2882C>T (p.Thr961Ile)
c.2798C>T (p.Thr933Ile)
c.2726C>T (p.Thr909Ile)
c.2660C>T (p.Thr887Ile)
c.2021C>T (p.Thr674Ile)
c.2639C>T (p.Thr880Ile)
9g.137813036C>ACA468161037EHMT1c.2898C>A (p.Thr966=)
c.2784C>A (p.Thr928=)
c.2805C>A (p.Thr935=)
c.2938C>A (n.2938C>A)
c.792C>A (p.Thr264=)
c.1755C>A (p.Thr585=)
c.585C>A
n.424C>A
c.2889C>A (p.Thr963=)
c.2880C>A (p.Thr960=)
c.2907C>A (p.Thr969=)
c.2904C>A (p.Thr968=)
c.2886C>A (p.Thr962=)
c.2829C>A (p.Thr943=)
c.2763C>A (p.Thr921=)
c.1329C>A (p.Thr443=)
c.681C>A (p.Thr227=)
c.468C>A (p.Thr156=)
c.2742C>A (p.Thr914=)
c.2877C>A (p.Thr959=)
c.2883C>A (p.Thr961=)
c.2799C>A (p.Thr933=)
c.2727C>A (p.Thr909=)
c.2661C>A (p.Thr887=)
c.2022C>A (p.Thr674=)
c.2640C>A (p.Thr880=)
9g.137813036C=CA1884685676EHMT1c.2898C= (p.Thr966=)
c.2784C= (p.Thr928=)
c.2805C= (p.Thr935=)
c.2938C= (n.2938C=)
c.792C= (p.Thr264=)
c.1755C= (p.Thr585=)
c.585C=
n.424C=
c.2889C= (p.Thr963=)
c.2880C= (p.Thr960=)
c.2907C= (p.Thr969=)
c.2904C= (p.Thr968=)
c.2886C= (p.Thr962=)
c.2829C= (p.Thr943=)
c.2763C= (p.Thr921=)
c.1329C= (p.Thr443=)
c.681C= (p.Thr227=)
c.468C= (p.Thr156=)
c.2742C= (p.Thr914=)
c.2877C= (p.Thr959=)
c.2883C= (p.Thr961=)
c.2799C= (p.Thr933=)
c.2727C= (p.Thr909=)
c.2661C= (p.Thr887=)
c.2022C= (p.Thr674=)
c.2640C= (p.Thr880=)
9g.137813036C>GCA468161036EHMT1c.2898C>G (p.Thr966=)
c.2784C>G (p.Thr928=)
c.2805C>G (p.Thr935=)
c.2938C>G (n.2938C>G)
c.792C>G (p.Thr264=)
c.1755C>G (p.Thr585=)
c.585C>G
n.424C>G
c.2889C>G (p.Thr963=)
c.2880C>G (p.Thr960=)
c.2907C>G (p.Thr969=)
c.2904C>G (p.Thr968=)
c.2886C>G (p.Thr962=)
c.2829C>G (p.Thr943=)
c.2763C>G (p.Thr921=)
c.1329C>G (p.Thr443=)
c.681C>G (p.Thr227=)
c.468C>G (p.Thr156=)
c.2742C>G (p.Thr914=)
c.2877C>G (p.Thr959=)
c.2883C>G (p.Thr961=)
c.2799C>G (p.Thr933=)
c.2727C>G (p.Thr909=)
c.2661C>G (p.Thr887=)
c.2022C>G (p.Thr674=)
c.2640C>G (p.Thr880=)
9g.137813036C>TCA5375099EHMT1c.2898C>T (p.Thr966=)
c.2784C>T (p.Thr928=)
c.2805C>T (p.Thr935=)
c.2938C>T (n.2938C>T)
c.792C>T (p.Thr264=)
c.1755C>T (p.Thr585=)
c.585C>T
n.424C>T
c.2889C>T (p.Thr963=)
c.2880C>T (p.Thr960=)
c.2907C>T (p.Thr969=)
c.2904C>T (p.Thr968=)
c.2886C>T (p.Thr962=)
c.2829C>T (p.Thr943=)
c.2763C>T (p.Thr921=)
c.1329C>T (p.Thr443=)
c.681C>T (p.Thr227=)
c.468C>T (p.Thr156=)
c.2742C>T (p.Thr914=)
c.2877C>T (p.Thr959=)
c.2883C>T (p.Thr961=)
c.2799C>T (p.Thr933=)
c.2727C>T (p.Thr909=)
c.2661C>T (p.Thr887=)
c.2022C>T (p.Thr674=)
c.2640C>T (p.Thr880=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813037T>ACA375793281EHMT1c.2899T>A (p.Leu967Ile)
c.2785T>A (p.Leu929Ile)
c.2806T>A (p.Leu936Ile)
c.2939T>A (n.2939T>A)
c.793T>A (p.Leu265Ile)
c.1756T>A (p.Leu586Ile)
c.586T>A
n.425T>A
c.2890T>A (p.Leu964Ile)
c.2881T>A (p.Leu961Ile)
c.2908T>A (p.Leu970Ile)
c.2905T>A (p.Leu969Ile)
c.2887T>A (p.Leu963Ile)
c.2830T>A (p.Leu944Ile)
c.2764T>A (p.Leu922Ile)
c.1330T>A (p.Leu444Ile)
c.682T>A (p.Leu228Ile)
c.469T>A (p.Leu157Ile)
c.2743T>A (p.Leu915Ile)
c.2878T>A (p.Leu960Ile)
c.2884T>A (p.Leu962Ile)
c.2800T>A (p.Leu934Ile)
c.2728T>A (p.Leu910Ile)
c.2662T>A (p.Leu888Ile)
c.2023T>A (p.Leu675Ile)
c.2641T>A (p.Leu881Ile)
9g.137813037T>CCA468161038EHMT1c.2899T>C (p.Leu967=)
c.2785T>C (p.Leu929=)
c.2806T>C (p.Leu936=)
c.2939T>C (n.2939T>C)
c.793T>C (p.Leu265=)
c.1756T>C (p.Leu586=)
c.586T>C
n.425T>C
c.2890T>C (p.Leu964=)
c.2881T>C (p.Leu961=)
c.2908T>C (p.Leu970=)
c.2905T>C (p.Leu969=)
c.2887T>C (p.Leu963=)
c.2830T>C (p.Leu944=)
c.2764T>C (p.Leu922=)
c.1330T>C (p.Leu444=)
c.682T>C (p.Leu228=)
c.469T>C (p.Leu157=)
c.2743T>C (p.Leu915=)
c.2878T>C (p.Leu960=)
c.2884T>C (p.Leu962=)
c.2800T>C (p.Leu934=)
c.2728T>C (p.Leu910=)
c.2662T>C (p.Leu888=)
c.2023T>C (p.Leu675=)
c.2641T>C (p.Leu881=)
 dbSNP gnomAD v2 gnomAD v4
9g.137813037T>GCA375793283EHMT1c.2899T>G (p.Leu967Val)
c.2785T>G (p.Leu929Val)
c.2806T>G (p.Leu936Val)
c.2939T>G (n.2939T>G)
c.793T>G (p.Leu265Val)
c.1756T>G (p.Leu586Val)
c.586T>G
n.425T>G
c.2890T>G (p.Leu964Val)
c.2881T>G (p.Leu961Val)
c.2908T>G (p.Leu970Val)
c.2905T>G (p.Leu969Val)
c.2887T>G (p.Leu963Val)
c.2830T>G (p.Leu944Val)
c.2764T>G (p.Leu922Val)
c.1330T>G (p.Leu444Val)
c.682T>G (p.Leu228Val)
c.469T>G (p.Leu157Val)
c.2743T>G (p.Leu915Val)
c.2878T>G (p.Leu960Val)
c.2884T>G (p.Leu962Val)
c.2800T>G (p.Leu934Val)
c.2728T>G (p.Leu910Val)
c.2662T>G (p.Leu888Val)
c.2023T>G (p.Leu675Val)
c.2641T>G (p.Leu881Val)
 gnomAD v4
9g.137813037T=CA1884685677EHMT1c.2899T= (p.Leu967=)
c.2785T= (p.Leu929=)
c.2806T= (p.Leu936=)
c.2939T= (n.2939T=)
c.793T= (p.Leu265=)
c.1756T= (p.Leu586=)
c.586T=
n.425T=
c.2890T= (p.Leu964=)
c.2881T= (p.Leu961=)
c.2908T= (p.Leu970=)
c.2905T= (p.Leu969=)
c.2887T= (p.Leu963=)
c.2830T= (p.Leu944=)
c.2764T= (p.Leu922=)
c.1330T= (p.Leu444=)
c.682T= (p.Leu228=)
c.469T= (p.Leu157=)
c.2743T= (p.Leu915=)
c.2878T= (p.Leu960=)
c.2884T= (p.Leu962=)
c.2800T= (p.Leu934=)
c.2728T= (p.Leu910=)
c.2662T= (p.Leu888=)
c.2023T= (p.Leu675=)
c.2641T= (p.Leu881=)
9g.137813038T>ACA375793285EHMT1c.2900T>A (p.Leu967Ter)
c.2786T>A (p.Leu929Ter)
c.2807T>A (p.Leu936Ter)
c.2940T>A (n.2940T>A)
c.794T>A (p.Leu265Ter)
c.1757T>A (p.Leu586Ter)
c.587T>A
n.426T>A
c.2891T>A (p.Leu964Ter)
c.2882T>A (p.Leu961Ter)
c.2909T>A (p.Leu970Ter)
c.2906T>A (p.Leu969Ter)
c.2888T>A (p.Leu963Ter)
c.2831T>A (p.Leu944Ter)
c.2765T>A (p.Leu922Ter)
c.1331T>A (p.Leu444Ter)
c.683T>A (p.Leu228Ter)
c.470T>A (p.Leu157Ter)
c.2744T>A (p.Leu915Ter)
c.2879T>A (p.Leu960Ter)
c.2885T>A (p.Leu962Ter)
c.2801T>A (p.Leu934Ter)
c.2729T>A (p.Leu910Ter)
c.2663T>A (p.Leu888Ter)
c.2024T>A (p.Leu675Ter)
c.2642T>A (p.Leu881Ter)
9g.137813038T>CCA375793287EHMT1c.2900T>C (p.Leu967Ser)
c.2786T>C (p.Leu929Ser)
c.2807T>C (p.Leu936Ser)
c.2940T>C (n.2940T>C)
c.794T>C (p.Leu265Ser)
c.1757T>C (p.Leu586Ser)
c.587T>C
n.426T>C
c.2891T>C (p.Leu964Ser)
c.2882T>C (p.Leu961Ser)
c.2909T>C (p.Leu970Ser)
c.2906T>C (p.Leu969Ser)
c.2888T>C (p.Leu963Ser)
c.2831T>C (p.Leu944Ser)
c.2765T>C (p.Leu922Ser)
c.1331T>C (p.Leu444Ser)
c.683T>C (p.Leu228Ser)
c.470T>C (p.Leu157Ser)
c.2744T>C (p.Leu915Ser)
c.2879T>C (p.Leu960Ser)
c.2885T>C (p.Leu962Ser)
c.2801T>C (p.Leu934Ser)
c.2729T>C (p.Leu910Ser)
c.2663T>C (p.Leu888Ser)
c.2024T>C (p.Leu675Ser)
c.2642T>C (p.Leu881Ser)
 gnomAD v4
9g.137813038T>GCA375793288EHMT1c.2900T>G (p.Leu967Ter)
c.2786T>G (p.Leu929Ter)
c.2807T>G (p.Leu936Ter)
c.2940T>G (n.2940T>G)
c.794T>G (p.Leu265Ter)
c.1757T>G (p.Leu586Ter)
c.587T>G
n.426T>G
c.2891T>G (p.Leu964Ter)
c.2882T>G (p.Leu961Ter)
c.2909T>G (p.Leu970Ter)
c.2906T>G (p.Leu969Ter)
c.2888T>G (p.Leu963Ter)
c.2831T>G (p.Leu944Ter)
c.2765T>G (p.Leu922Ter)
c.1331T>G (p.Leu444Ter)
c.683T>G (p.Leu228Ter)
c.470T>G (p.Leu157Ter)
c.2744T>G (p.Leu915Ter)
c.2879T>G (p.Leu960Ter)
c.2885T>G (p.Leu962Ter)
c.2801T>G (p.Leu934Ter)
c.2729T>G (p.Leu910Ter)
c.2663T>G (p.Leu888Ter)
c.2024T>G (p.Leu675Ter)
c.2642T>G (p.Leu881Ter)
9g.137813039A=CA1884685678EHMT1c.2901A= (p.Leu967=)
c.2787A= (p.Leu929=)
c.2808A= (p.Leu936=)
c.2941A= (n.2941A=)
c.795A= (p.Leu265=)
c.1758A= (p.Leu586=)
c.588A=
n.427A=
c.2892A= (p.Leu964=)
c.2883A= (p.Leu961=)
c.2910A= (p.Leu970=)
c.2907A= (p.Leu969=)
c.2889A= (p.Leu963=)
c.2832A= (p.Leu944=)
c.2766A= (p.Leu922=)
c.1332A= (p.Leu444=)
c.684A= (p.Leu228=)
c.471A= (p.Leu157=)
c.2745A= (p.Leu915=)
c.2880A= (p.Leu960=)
c.2886A= (p.Leu962=)
c.2802A= (p.Leu934=)
c.2730A= (p.Leu910=)
c.2664A= (p.Leu888=)
c.2025A= (p.Leu675=)
c.2643A= (p.Leu881=)
9g.137813039A>CCA375793289EHMT1c.2901A>C (p.Leu967Phe)
c.2787A>C (p.Leu929Phe)
c.2808A>C (p.Leu936Phe)
c.2941A>C (n.2941A>C)
c.795A>C (p.Leu265Phe)
c.1758A>C (p.Leu586Phe)
c.588A>C
n.427A>C
c.2892A>C (p.Leu964Phe)
c.2883A>C (p.Leu961Phe)
c.2910A>C (p.Leu970Phe)
c.2907A>C (p.Leu969Phe)
c.2889A>C (p.Leu963Phe)
c.2832A>C (p.Leu944Phe)
c.2766A>C (p.Leu922Phe)
c.1332A>C (p.Leu444Phe)
c.684A>C (p.Leu228Phe)
c.471A>C (p.Leu157Phe)
c.2745A>C (p.Leu915Phe)
c.2880A>C (p.Leu960Phe)
c.2886A>C (p.Leu962Phe)
c.2802A>C (p.Leu934Phe)
c.2730A>C (p.Leu910Phe)
c.2664A>C (p.Leu888Phe)
c.2025A>C (p.Leu675Phe)
c.2643A>C (p.Leu881Phe)
9g.137813039A>GCA468161039EHMT1c.2901A>G (p.Leu967=)
c.2787A>G (p.Leu929=)
c.2808A>G (p.Leu936=)
c.2941A>G (n.2941A>G)
c.795A>G (p.Leu265=)
c.1758A>G (p.Leu586=)
c.588A>G
n.427A>G
c.2892A>G (p.Leu964=)
c.2883A>G (p.Leu961=)
c.2910A>G (p.Leu970=)
c.2907A>G (p.Leu969=)
c.2889A>G (p.Leu963=)
c.2832A>G (p.Leu944=)
c.2766A>G (p.Leu922=)
c.1332A>G (p.Leu444=)
c.684A>G (p.Leu228=)
c.471A>G (p.Leu157=)
c.2745A>G (p.Leu915=)
c.2880A>G (p.Leu960=)
c.2886A>G (p.Leu962=)
c.2802A>G (p.Leu934=)
c.2730A>G (p.Leu910=)
c.2664A>G (p.Leu888=)
c.2025A>G (p.Leu675=)
c.2643A>G (p.Leu881=)
 dbSNP gnomAD v4
9g.137813039A>TCA375793291EHMT1c.2901A>T (p.Leu967Phe)
c.2787A>T (p.Leu929Phe)
c.2808A>T (p.Leu936Phe)
c.2941A>T (n.2941A>T)
c.795A>T (p.Leu265Phe)
c.1758A>T (p.Leu586Phe)
c.588A>T
n.427A>T
c.2892A>T (p.Leu964Phe)
c.2883A>T (p.Leu961Phe)
c.2910A>T (p.Leu970Phe)
c.2907A>T (p.Leu969Phe)
c.2889A>T (p.Leu963Phe)
c.2832A>T (p.Leu944Phe)
c.2766A>T (p.Leu922Phe)
c.1332A>T (p.Leu444Phe)
c.684A>T (p.Leu228Phe)
c.471A>T (p.Leu157Phe)
c.2745A>T (p.Leu915Phe)
c.2880A>T (p.Leu960Phe)
c.2886A>T (p.Leu962Phe)
c.2802A>T (p.Leu934Phe)
c.2730A>T (p.Leu910Phe)
c.2664A>T (p.Leu888Phe)
c.2025A>T (p.Leu675Phe)
c.2643A>T (p.Leu881Phe)
9g.137813040A>CCA375793293EHMT1c.2902A>C (p.Lys968Gln)
c.2788A>C (p.Lys930Gln)
c.2809A>C (p.Lys937Gln)
c.2942A>C (n.2942A>C)
c.796A>C (p.Lys266Gln)
c.1759A>C (p.Lys587Gln)
c.589A>C
n.428A>C
c.2893A>C (p.Lys965Gln)
c.2884A>C (p.Lys962Gln)
c.2911A>C (p.Lys971Gln)
c.2908A>C (p.Lys970Gln)
c.2890A>C (p.Lys964Gln)
c.2833A>C (p.Lys945Gln)
c.2767A>C (p.Lys923Gln)
c.1333A>C (p.Lys445Gln)
c.685A>C (p.Lys229Gln)
c.472A>C (p.Lys158Gln)
c.2746A>C (p.Lys916Gln)
c.2881A>C (p.Lys961Gln)
c.2887A>C (p.Lys963Gln)
c.2803A>C (p.Lys935Gln)
c.2731A>C (p.Lys911Gln)
c.2665A>C (p.Lys889Gln)
c.2026A>C (p.Lys676Gln)
c.2644A>C (p.Lys882Gln)
9g.137813040A>GCA375793297EHMT1c.2902A>G (p.Lys968Glu)
c.2788A>G (p.Lys930Glu)
c.2809A>G (p.Lys937Glu)
c.2942A>G (n.2942A>G)
c.796A>G (p.Lys266Glu)
c.1759A>G (p.Lys587Glu)
c.589A>G
n.428A>G
c.2893A>G (p.Lys965Glu)
c.2884A>G (p.Lys962Glu)
c.2911A>G (p.Lys971Glu)
c.2908A>G (p.Lys970Glu)
c.2890A>G (p.Lys964Glu)
c.2833A>G (p.Lys945Glu)
c.2767A>G (p.Lys923Glu)
c.1333A>G (p.Lys445Glu)
c.685A>G (p.Lys229Glu)
c.472A>G (p.Lys158Glu)
c.2746A>G (p.Lys916Glu)
c.2881A>G (p.Lys961Glu)
c.2887A>G (p.Lys963Glu)
c.2803A>G (p.Lys935Glu)
c.2731A>G (p.Lys911Glu)
c.2665A>G (p.Lys889Glu)
c.2026A>G (p.Lys676Glu)
c.2644A>G (p.Lys882Glu)
9g.137813040A>TCA375793295EHMT1c.2902A>T (p.Lys968Ter)
c.2788A>T (p.Lys930Ter)
c.2809A>T (p.Lys937Ter)
c.2942A>T (n.2942A>T)
c.796A>T (p.Lys266Ter)
c.1759A>T (p.Lys587Ter)
c.589A>T
n.428A>T
c.2893A>T (p.Lys965Ter)
c.2884A>T (p.Lys962Ter)
c.2911A>T (p.Lys971Ter)
c.2908A>T (p.Lys970Ter)
c.2890A>T (p.Lys964Ter)
c.2833A>T (p.Lys945Ter)
c.2767A>T (p.Lys923Ter)
c.1333A>T (p.Lys445Ter)
c.685A>T (p.Lys229Ter)
c.472A>T (p.Lys158Ter)
c.2746A>T (p.Lys916Ter)
c.2881A>T (p.Lys961Ter)
c.2887A>T (p.Lys963Ter)
c.2803A>T (p.Lys935Ter)
c.2731A>T (p.Lys911Ter)
c.2665A>T (p.Lys889Ter)
c.2026A>T (p.Lys676Ter)
c.2644A>T (p.Lys882Ter)
9g.137813041A>CCA375793299EHMT1c.2903A>C (p.Lys968Thr)
c.2789A>C (p.Lys930Thr)
c.2810A>C (p.Lys937Thr)
c.2943A>C (n.2943A>C)
c.797A>C (p.Lys266Thr)
c.1760A>C (p.Lys587Thr)
c.590A>C
n.429A>C
c.2894A>C (p.Lys965Thr)
c.2885A>C (p.Lys962Thr)
c.2912A>C (p.Lys971Thr)
c.2909A>C (p.Lys970Thr)
c.2891A>C (p.Lys964Thr)
c.2834A>C (p.Lys945Thr)
c.2768A>C (p.Lys923Thr)
c.1334A>C (p.Lys445Thr)
c.686A>C (p.Lys229Thr)
c.473A>C (p.Lys158Thr)
c.2747A>C (p.Lys916Thr)
c.2882A>C (p.Lys961Thr)
c.2888A>C (p.Lys963Thr)
c.2804A>C (p.Lys935Thr)
c.2732A>C (p.Lys911Thr)
c.2666A>C (p.Lys889Thr)
c.2027A>C (p.Lys676Thr)
c.2645A>C (p.Lys882Thr)
9g.137813041A>GCA375793301EHMT1c.2903A>G (p.Lys968Arg)
c.2789A>G (p.Lys930Arg)
c.2810A>G (p.Lys937Arg)
c.2943A>G (n.2943A>G)
c.797A>G (p.Lys266Arg)
c.1760A>G (p.Lys587Arg)
c.590A>G
n.429A>G
c.2894A>G (p.Lys965Arg)
c.2885A>G (p.Lys962Arg)
c.2912A>G (p.Lys971Arg)
c.2909A>G (p.Lys970Arg)
c.2891A>G (p.Lys964Arg)
c.2834A>G (p.Lys945Arg)
c.2768A>G (p.Lys923Arg)
c.1334A>G (p.Lys445Arg)
c.686A>G (p.Lys229Arg)
c.473A>G (p.Lys158Arg)
c.2747A>G (p.Lys916Arg)
c.2882A>G (p.Lys961Arg)
c.2888A>G (p.Lys963Arg)
c.2804A>G (p.Lys935Arg)
c.2732A>G (p.Lys911Arg)
c.2666A>G (p.Lys889Arg)
c.2027A>G (p.Lys676Arg)
c.2645A>G (p.Lys882Arg)
 gnomAD v4
9g.137813041A>TCA375793303EHMT1c.2903A>T (p.Lys968Met)
c.2789A>T (p.Lys930Met)
c.2810A>T (p.Lys937Met)
c.2943A>T (n.2943A>T)
c.797A>T (p.Lys266Met)
c.1760A>T (p.Lys587Met)
c.590A>T
n.429A>T
c.2894A>T (p.Lys965Met)
c.2885A>T (p.Lys962Met)
c.2912A>T (p.Lys971Met)
c.2909A>T (p.Lys970Met)
c.2891A>T (p.Lys964Met)
c.2834A>T (p.Lys945Met)
c.2768A>T (p.Lys923Met)
c.1334A>T (p.Lys445Met)
c.686A>T (p.Lys229Met)
c.473A>T (p.Lys158Met)
c.2747A>T (p.Lys916Met)
c.2882A>T (p.Lys961Met)
c.2888A>T (p.Lys963Met)
c.2804A>T (p.Lys935Met)
c.2732A>T (p.Lys911Met)
c.2666A>T (p.Lys889Met)
c.2027A>T (p.Lys676Met)
c.2645A>T (p.Lys882Met)
9g.137813042G>ACA5375100EHMT1c.2904G>A (p.Lys968=)
c.2790G>A (p.Lys930=)
c.2811G>A (p.Lys937=)
c.2944G>A (n.2944G>A)
c.798G>A (p.Lys266=)
c.1761G>A (p.Lys587=)
c.591G>A
n.430G>A
c.2895G>A (p.Lys965=)
c.2886G>A (p.Lys962=)
c.2913G>A (p.Lys971=)
c.2910G>A (p.Lys970=)
c.2892G>A (p.Lys964=)
c.2835G>A (p.Lys945=)
c.2769G>A (p.Lys923=)
c.1335G>A (p.Lys445=)
c.687G>A (p.Lys229=)
c.474G>A (p.Lys158=)
c.2748G>A (p.Lys916=)
c.2883G>A (p.Lys961=)
c.2889G>A (p.Lys963=)
c.2805G>A (p.Lys935=)
c.2733G>A (p.Lys911=)
c.2667G>A (p.Lys889=)
c.2028G>A (p.Lys676=)
c.2646G>A (p.Lys882=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813042G>CCA375793307EHMT1c.2904G>C (p.Lys968Asn)
c.2790G>C (p.Lys930Asn)
c.2811G>C (p.Lys937Asn)
c.2944G>C (n.2944G>C)
c.798G>C (p.Lys266Asn)
c.1761G>C (p.Lys587Asn)
c.591G>C
n.430G>C
c.2895G>C (p.Lys965Asn)
c.2886G>C (p.Lys962Asn)
c.2913G>C (p.Lys971Asn)
c.2910G>C (p.Lys970Asn)
c.2892G>C (p.Lys964Asn)
c.2835G>C (p.Lys945Asn)
c.2769G>C (p.Lys923Asn)
c.1335G>C (p.Lys445Asn)
c.687G>C (p.Lys229Asn)
c.474G>C (p.Lys158Asn)
c.2748G>C (p.Lys916Asn)
c.2883G>C (p.Lys961Asn)
c.2889G>C (p.Lys963Asn)
c.2805G>C (p.Lys935Asn)
c.2733G>C (p.Lys911Asn)
c.2667G>C (p.Lys889Asn)
c.2028G>C (p.Lys676Asn)
c.2646G>C (p.Lys882Asn)
9g.137813042G=CA1884685679EHMT1c.2904G= (p.Lys968=)
c.2790G= (p.Lys930=)
c.2811G= (p.Lys937=)
c.2944G= (n.2944G=)
c.798G= (p.Lys266=)
c.1761G= (p.Lys587=)
c.591G=
n.430G=
c.2895G= (p.Lys965=)
c.2886G= (p.Lys962=)
c.2913G= (p.Lys971=)
c.2910G= (p.Lys970=)
c.2892G= (p.Lys964=)
c.2835G= (p.Lys945=)
c.2769G= (p.Lys923=)
c.1335G= (p.Lys445=)
c.687G= (p.Lys229=)
c.474G= (p.Lys158=)
c.2748G= (p.Lys916=)
c.2883G= (p.Lys961=)
c.2889G= (p.Lys963=)
c.2805G= (p.Lys935=)
c.2733G= (p.Lys911=)
c.2667G= (p.Lys889=)
c.2028G= (p.Lys676=)
c.2646G= (p.Lys882=)
9g.137813042G>TCA375793310EHMT1c.2904G>T (p.Lys968Asn)
c.2790G>T (p.Lys930Asn)
c.2811G>T (p.Lys937Asn)
c.2944G>T (n.2944G>T)
c.798G>T (p.Lys266Asn)
c.1761G>T (p.Lys587Asn)
c.591G>T
n.430G>T
c.2895G>T (p.Lys965Asn)
c.2886G>T (p.Lys962Asn)
c.2913G>T (p.Lys971Asn)
c.2910G>T (p.Lys970Asn)
c.2892G>T (p.Lys964Asn)
c.2835G>T (p.Lys945Asn)
c.2769G>T (p.Lys923Asn)
c.1335G>T (p.Lys445Asn)
c.687G>T (p.Lys229Asn)
c.474G>T (p.Lys158Asn)
c.2748G>T (p.Lys916Asn)
c.2883G>T (p.Lys961Asn)
c.2889G>T (p.Lys963Asn)
c.2805G>T (p.Lys935Asn)
c.2733G>T (p.Lys911Asn)
c.2667G>T (p.Lys889Asn)
c.2028G>T (p.Lys676Asn)
c.2646G>T (p.Lys882Asn)
9g.137813043A>CCA375793313EHMT1c.2905A>C (p.Asn969His)
c.2791A>C (p.Asn931His)
c.2812A>C (p.Asn938His)
c.2945A>C (n.2945A>C)
c.799A>C (p.Asn267His)
c.1762A>C (p.Asn588His)
c.592A>C
n.431A>C
c.2896A>C (p.Asn966His)
c.2887A>C (p.Asn963His)
c.2914A>C (p.Asn972His)
c.2911A>C (p.Asn971His)
c.2893A>C (p.Asn965His)
c.2836A>C (p.Asn946His)
c.2770A>C (p.Asn924His)
c.1336A>C (p.Asn446His)
c.688A>C (p.Asn230His)
c.475A>C (p.Asn159His)
c.2749A>C (p.Asn917His)
c.2884A>C (p.Asn962His)
c.2890A>C (p.Asn964His)
c.2806A>C (p.Asn936His)
c.2734A>C (p.Asn912His)
c.2668A>C (p.Asn890His)
c.2029A>C (p.Asn677His)
c.2647A>C (p.Asn883His)
9g.137813043A>GCA375793314EHMT1c.2905A>G (p.Asn969Asp)
c.2791A>G (p.Asn931Asp)
c.2812A>G (p.Asn938Asp)
c.2945A>G (n.2945A>G)
c.799A>G (p.Asn267Asp)
c.1762A>G (p.Asn588Asp)
c.592A>G
n.431A>G
c.2896A>G (p.Asn966Asp)
c.2887A>G (p.Asn963Asp)
c.2914A>G (p.Asn972Asp)
c.2911A>G (p.Asn971Asp)
c.2893A>G (p.Asn965Asp)
c.2836A>G (p.Asn946Asp)
c.2770A>G (p.Asn924Asp)
c.1336A>G (p.Asn446Asp)
c.688A>G (p.Asn230Asp)
c.475A>G (p.Asn159Asp)
c.2749A>G (p.Asn917Asp)
c.2884A>G (p.Asn962Asp)
c.2890A>G (p.Asn964Asp)
c.2806A>G (p.Asn936Asp)
c.2734A>G (p.Asn912Asp)
c.2668A>G (p.Asn890Asp)
c.2029A>G (p.Asn677Asp)
c.2647A>G (p.Asn883Asp)
9g.137813043A>TCA375793316EHMT1c.2905A>T (p.Asn969Tyr)
c.2791A>T (p.Asn931Tyr)
c.2812A>T (p.Asn938Tyr)
c.2945A>T (n.2945A>T)
c.799A>T (p.Asn267Tyr)
c.1762A>T (p.Asn588Tyr)
c.592A>T
n.431A>T
c.2896A>T (p.Asn966Tyr)
c.2887A>T (p.Asn963Tyr)
c.2914A>T (p.Asn972Tyr)
c.2911A>T (p.Asn971Tyr)
c.2893A>T (p.Asn965Tyr)
c.2836A>T (p.Asn946Tyr)
c.2770A>T (p.Asn924Tyr)
c.1336A>T (p.Asn446Tyr)
c.688A>T (p.Asn230Tyr)
c.475A>T (p.Asn159Tyr)
c.2749A>T (p.Asn917Tyr)
c.2884A>T (p.Asn962Tyr)
c.2890A>T (p.Asn964Tyr)
c.2806A>T (p.Asn936Tyr)
c.2734A>T (p.Asn912Tyr)
c.2668A>T (p.Asn890Tyr)
c.2029A>T (p.Asn677Tyr)
c.2647A>T (p.Asn883Tyr)
9g.137813044A>CCA375793318EHMT1c.2906A>C (p.Asn969Thr)
c.2792A>C (p.Asn931Thr)
c.2813A>C (p.Asn938Thr)
c.2946A>C (n.2946A>C)
c.800A>C (p.Asn267Thr)
c.1763A>C (p.Asn588Thr)
c.593A>C
n.432A>C
c.2897A>C (p.Asn966Thr)
c.2888A>C (p.Asn963Thr)
c.2915A>C (p.Asn972Thr)
c.2912A>C (p.Asn971Thr)
c.2894A>C (p.Asn965Thr)
c.2837A>C (p.Asn946Thr)
c.2771A>C (p.Asn924Thr)
c.1337A>C (p.Asn446Thr)
c.689A>C (p.Asn230Thr)
c.476A>C (p.Asn159Thr)
c.2750A>C (p.Asn917Thr)
c.2885A>C (p.Asn962Thr)
c.2891A>C (p.Asn964Thr)
c.2807A>C (p.Asn936Thr)
c.2735A>C (p.Asn912Thr)
c.2669A>C (p.Asn890Thr)
c.2030A>C (p.Asn677Thr)
c.2648A>C (p.Asn883Thr)
9g.137813044A>GCA375793319EHMT1c.2906A>G (p.Asn969Ser)
c.2792A>G (p.Asn931Ser)
c.2813A>G (p.Asn938Ser)
c.2946A>G (n.2946A>G)
c.800A>G (p.Asn267Ser)
c.1763A>G (p.Asn588Ser)
c.593A>G
n.432A>G
c.2897A>G (p.Asn966Ser)
c.2888A>G (p.Asn963Ser)
c.2915A>G (p.Asn972Ser)
c.2912A>G (p.Asn971Ser)
c.2894A>G (p.Asn965Ser)
c.2837A>G (p.Asn946Ser)
c.2771A>G (p.Asn924Ser)
c.1337A>G (p.Asn446Ser)
c.689A>G (p.Asn230Ser)
c.476A>G (p.Asn159Ser)
c.2750A>G (p.Asn917Ser)
c.2885A>G (p.Asn962Ser)
c.2891A>G (p.Asn964Ser)
c.2807A>G (p.Asn936Ser)
c.2735A>G (p.Asn912Ser)
c.2669A>G (p.Asn890Ser)
c.2030A>G (p.Asn677Ser)
c.2648A>G (p.Asn883Ser)
9g.137813044A>TCA375793320EHMT1c.2906A>T (p.Asn969Ile)
c.2792A>T (p.Asn931Ile)
c.2813A>T (p.Asn938Ile)
c.2946A>T (n.2946A>T)
c.800A>T (p.Asn267Ile)
c.1763A>T (p.Asn588Ile)
c.593A>T
n.432A>T
c.2897A>T (p.Asn966Ile)
c.2888A>T (p.Asn963Ile)
c.2915A>T (p.Asn972Ile)
c.2912A>T (p.Asn971Ile)
c.2894A>T (p.Asn965Ile)
c.2837A>T (p.Asn946Ile)
c.2771A>T (p.Asn924Ile)
c.1337A>T (p.Asn446Ile)
c.689A>T (p.Asn230Ile)
c.476A>T (p.Asn159Ile)
c.2750A>T (p.Asn917Ile)
c.2885A>T (p.Asn962Ile)
c.2891A>T (p.Asn964Ile)
c.2807A>T (p.Asn936Ile)
c.2735A>T (p.Asn912Ile)
c.2669A>T (p.Asn890Ile)
c.2030A>T (p.Asn677Ile)
c.2648A>T (p.Asn883Ile)
9g.137813045C>ACA375793321EHMT1c.2907C>A (p.Asn969Lys)
c.2793C>A (p.Asn931Lys)
c.2814C>A (p.Asn938Lys)
c.2947C>A (n.2947C>A)
c.801C>A (p.Asn267Lys)
c.1764C>A (p.Asn588Lys)
c.594C>A
n.433C>A
c.2898C>A (p.Asn966Lys)
c.2889C>A (p.Asn963Lys)
c.2916C>A (p.Asn972Lys)
c.2913C>A (p.Asn971Lys)
c.2895C>A (p.Asn965Lys)
c.2838C>A (p.Asn946Lys)
c.2772C>A (p.Asn924Lys)
c.1338C>A (p.Asn446Lys)
c.690C>A (p.Asn230Lys)
c.477C>A (p.Asn159Lys)
c.2751C>A (p.Asn917Lys)
c.2886C>A (p.Asn962Lys)
c.2892C>A (p.Asn964Lys)
c.2808C>A (p.Asn936Lys)
c.2736C>A (p.Asn912Lys)
c.2670C>A (p.Asn890Lys)
c.2031C>A (p.Asn677Lys)
c.2649C>A (p.Asn883Lys)
9g.137813045C=CA1884685680EHMT1c.2907C= (p.Asn969=)
c.2793C= (p.Asn931=)
c.2814C= (p.Asn938=)
c.2947C= (n.2947C=)
c.801C= (p.Asn267=)
c.1764C= (p.Asn588=)
c.594C=
n.433C=
c.2898C= (p.Asn966=)
c.2889C= (p.Asn963=)
c.2916C= (p.Asn972=)
c.2913C= (p.Asn971=)
c.2895C= (p.Asn965=)
c.2838C= (p.Asn946=)
c.2772C= (p.Asn924=)
c.1338C= (p.Asn446=)
c.690C= (p.Asn230=)
c.477C= (p.Asn159=)
c.2751C= (p.Asn917=)
c.2886C= (p.Asn962=)
c.2892C= (p.Asn964=)
c.2808C= (p.Asn936=)
c.2736C= (p.Asn912=)
c.2670C= (p.Asn890=)
c.2031C= (p.Asn677=)
c.2649C= (p.Asn883=)
9g.137813045C>GCA375793323EHMT1c.2907C>G (p.Asn969Lys)
c.2793C>G (p.Asn931Lys)
c.2814C>G (p.Asn938Lys)
c.2947C>G (n.2947C>G)
c.801C>G (p.Asn267Lys)
c.1764C>G (p.Asn588Lys)
c.594C>G
n.433C>G
c.2898C>G (p.Asn966Lys)
c.2889C>G (p.Asn963Lys)
c.2916C>G (p.Asn972Lys)
c.2913C>G (p.Asn971Lys)
c.2895C>G (p.Asn965Lys)
c.2838C>G (p.Asn946Lys)
c.2772C>G (p.Asn924Lys)
c.1338C>G (p.Asn446Lys)
c.690C>G (p.Asn230Lys)
c.477C>G (p.Asn159Lys)
c.2751C>G (p.Asn917Lys)
c.2886C>G (p.Asn962Lys)
c.2892C>G (p.Asn964Lys)
c.2808C>G (p.Asn936Lys)
c.2736C>G (p.Asn912Lys)
c.2670C>G (p.Asn890Lys)
c.2031C>G (p.Asn677Lys)
c.2649C>G (p.Asn883Lys)
9g.137813045C>TCA201843145EHMT1c.2907C>T (p.Asn969=)
c.2793C>T (p.Asn931=)
c.2814C>T (p.Asn938=)
c.2947C>T (n.2947C>T)
c.801C>T (p.Asn267=)
c.1764C>T (p.Asn588=)
c.594C>T
n.433C>T
c.2898C>T (p.Asn966=)
c.2889C>T (p.Asn963=)
c.2916C>T (p.Asn972=)
c.2913C>T (p.Asn971=)
c.2895C>T (p.Asn965=)
c.2838C>T (p.Asn946=)
c.2772C>T (p.Asn924=)
c.1338C>T (p.Asn446=)
c.690C>T (p.Asn230=)
c.477C>T (p.Asn159=)
c.2751C>T (p.Asn917=)
c.2886C>T (p.Asn962=)
c.2892C>T (p.Asn964=)
c.2808C>T (p.Asn936=)
c.2736C>T (p.Asn912=)
c.2670C>T (p.Asn890=)
c.2031C>T (p.Asn677=)
c.2649C>T (p.Asn883=)
 dbSNP gnomAD v3 gnomAD v4
9g.137813046A>CCA375793324EHMT1c.2908A>C (p.Lys970Gln)
c.2794A>C (p.Lys932Gln)
c.2815A>C (p.Lys939Gln)
c.2948A>C (n.2948A>C)
c.802A>C (p.Lys268Gln)
c.1765A>C (p.Lys589Gln)
c.595A>C
n.434A>C
c.2899A>C (p.Lys967Gln)
c.2890A>C (p.Lys964Gln)
c.2917A>C (p.Lys973Gln)
c.2914A>C (p.Lys972Gln)
c.2896A>C (p.Lys966Gln)
c.2839A>C (p.Lys947Gln)
c.2773A>C (p.Lys925Gln)
c.1339A>C (p.Lys447Gln)
c.691A>C (p.Lys231Gln)
c.478A>C (p.Lys160Gln)
c.2752A>C (p.Lys918Gln)
c.2887A>C (p.Lys963Gln)
c.2893A>C (p.Lys965Gln)
c.2809A>C (p.Lys937Gln)
c.2737A>C (p.Lys913Gln)
c.2671A>C (p.Lys891Gln)
c.2032A>C (p.Lys678Gln)
c.2650A>C (p.Lys884Gln)
9g.137813046A>GCA375793325EHMT1c.2908A>G (p.Lys970Glu)
c.2794A>G (p.Lys932Glu)
c.2815A>G (p.Lys939Glu)
c.2948A>G (n.2948A>G)
c.802A>G (p.Lys268Glu)
c.1765A>G (p.Lys589Glu)
c.595A>G
n.434A>G
c.2899A>G (p.Lys967Glu)
c.2890A>G (p.Lys964Glu)
c.2917A>G (p.Lys973Glu)
c.2914A>G (p.Lys972Glu)
c.2896A>G (p.Lys966Glu)
c.2839A>G (p.Lys947Glu)
c.2773A>G (p.Lys925Glu)
c.1339A>G (p.Lys447Glu)
c.691A>G (p.Lys231Glu)
c.478A>G (p.Lys160Glu)
c.2752A>G (p.Lys918Glu)
c.2887A>G (p.Lys963Glu)
c.2893A>G (p.Lys965Glu)
c.2809A>G (p.Lys937Glu)
c.2737A>G (p.Lys913Glu)
c.2671A>G (p.Lys891Glu)
c.2032A>G (p.Lys678Glu)
c.2650A>G (p.Lys884Glu)
9g.137813046A>TCA375793327EHMT1c.2908A>T (p.Lys970Ter)
c.2794A>T (p.Lys932Ter)
c.2815A>T (p.Lys939Ter)
c.2948A>T (n.2948A>T)
c.802A>T (p.Lys268Ter)
c.1765A>T (p.Lys589Ter)
c.595A>T
n.434A>T
c.2899A>T (p.Lys967Ter)
c.2890A>T (p.Lys964Ter)
c.2917A>T (p.Lys973Ter)
c.2914A>T (p.Lys972Ter)
c.2896A>T (p.Lys966Ter)
c.2839A>T (p.Lys947Ter)
c.2773A>T (p.Lys925Ter)
c.1339A>T (p.Lys447Ter)
c.691A>T (p.Lys231Ter)
c.478A>T (p.Lys160Ter)
c.2752A>T (p.Lys918Ter)
c.2887A>T (p.Lys963Ter)
c.2893A>T (p.Lys965Ter)
c.2809A>T (p.Lys937Ter)
c.2737A>T (p.Lys913Ter)
c.2671A>T (p.Lys891Ter)
c.2032A>T (p.Lys678Ter)
c.2650A>T (p.Lys884Ter)
9g.137813047A=CA1884685681EHMT1c.2909A= (p.Lys970=)
c.2795A= (p.Lys932=)
c.2816A= (p.Lys939=)
c.2949A= (n.2949A=)
c.803A= (p.Lys268=)
c.1766A= (p.Lys589=)
c.596A=
n.435A=
c.2900A= (p.Lys967=)
c.2891A= (p.Lys964=)
c.2918A= (p.Lys973=)
c.2915A= (p.Lys972=)
c.2897A= (p.Lys966=)
c.2840A= (p.Lys947=)
c.2774A= (p.Lys925=)
c.1340A= (p.Lys447=)
c.692A= (p.Lys231=)
c.479A= (p.Lys160=)
c.2753A= (p.Lys918=)
c.2888A= (p.Lys963=)
c.2894A= (p.Lys965=)
c.2810A= (p.Lys937=)
c.2738A= (p.Lys913=)
c.2672A= (p.Lys891=)
c.2033A= (p.Lys678=)
c.2651A= (p.Lys884=)
9g.137813047A>CCA375793330EHMT1c.2909A>C (p.Lys970Thr)
c.2795A>C (p.Lys932Thr)
c.2816A>C (p.Lys939Thr)
c.2949A>C (n.2949A>C)
c.803A>C (p.Lys268Thr)
c.1766A>C (p.Lys589Thr)
c.596A>C
n.435A>C
c.2900A>C (p.Lys967Thr)
c.2891A>C (p.Lys964Thr)
c.2918A>C (p.Lys973Thr)
c.2915A>C (p.Lys972Thr)
c.2897A>C (p.Lys966Thr)
c.2840A>C (p.Lys947Thr)
c.2774A>C (p.Lys925Thr)
c.1340A>C (p.Lys447Thr)
c.692A>C (p.Lys231Thr)
c.479A>C (p.Lys160Thr)
c.2753A>C (p.Lys918Thr)
c.2888A>C (p.Lys963Thr)
c.2894A>C (p.Lys965Thr)
c.2810A>C (p.Lys937Thr)
c.2738A>C (p.Lys913Thr)
c.2672A>C (p.Lys891Thr)
c.2033A>C (p.Lys678Thr)
c.2651A>C (p.Lys884Thr)
 gnomAD v4
9g.137813047A>GCA5375101EHMT1c.2909A>G (p.Lys970Arg)
c.2795A>G (p.Lys932Arg)
c.2816A>G (p.Lys939Arg)
c.2949A>G (n.2949A>G)
c.803A>G (p.Lys268Arg)
c.1766A>G (p.Lys589Arg)
c.596A>G
n.435A>G
c.2900A>G (p.Lys967Arg)
c.2891A>G (p.Lys964Arg)
c.2918A>G (p.Lys973Arg)
c.2915A>G (p.Lys972Arg)
c.2897A>G (p.Lys966Arg)
c.2840A>G (p.Lys947Arg)
c.2774A>G (p.Lys925Arg)
c.1340A>G (p.Lys447Arg)
c.692A>G (p.Lys231Arg)
c.479A>G (p.Lys160Arg)
c.2753A>G (p.Lys918Arg)
c.2888A>G (p.Lys963Arg)
c.2894A>G (p.Lys965Arg)
c.2810A>G (p.Lys937Arg)
c.2738A>G (p.Lys913Arg)
c.2672A>G (p.Lys891Arg)
c.2033A>G (p.Lys678Arg)
c.2651A>G (p.Lys884Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813047A>TCA375793334EHMT1c.2909A>T (p.Lys970Met)
c.2795A>T (p.Lys932Met)
c.2816A>T (p.Lys939Met)
c.2949A>T (n.2949A>T)
c.803A>T (p.Lys268Met)
c.1766A>T (p.Lys589Met)
c.596A>T
n.435A>T
c.2900A>T (p.Lys967Met)
c.2891A>T (p.Lys964Met)
c.2918A>T (p.Lys973Met)
c.2915A>T (p.Lys972Met)
c.2897A>T (p.Lys966Met)
c.2840A>T (p.Lys947Met)
c.2774A>T (p.Lys925Met)
c.1340A>T (p.Lys447Met)
c.692A>T (p.Lys231Met)
c.479A>T (p.Lys160Met)
c.2753A>T (p.Lys918Met)
c.2888A>T (p.Lys963Met)
c.2894A>T (p.Lys965Met)
c.2810A>T (p.Lys937Met)
c.2738A>T (p.Lys913Met)
c.2672A>T (p.Lys891Met)
c.2033A>T (p.Lys678Met)
c.2651A>T (p.Lys884Met)
9g.137813048G>ACA468161040EHMT1c.2910G>A (p.Lys970=)
c.2796G>A (p.Lys932=)
c.2817G>A (p.Lys939=)
c.2950G>A (n.2950G>A)
c.804G>A (p.Lys268=)
c.1767G>A (p.Lys589=)
c.597G>A
n.436G>A
c.2901G>A (p.Lys967=)
c.2892G>A (p.Lys964=)
c.2919G>A (p.Lys973=)
c.2916G>A (p.Lys972=)
c.2898G>A (p.Lys966=)
c.2841G>A (p.Lys947=)
c.2775G>A (p.Lys925=)
c.1341G>A (p.Lys447=)
c.693G>A (p.Lys231=)
c.480G>A (p.Lys160=)
c.2754G>A (p.Lys918=)
c.2889G>A (p.Lys963=)
c.2895G>A (p.Lys965=)
c.2811G>A (p.Lys937=)
c.2739G>A (p.Lys913=)
c.2673G>A (p.Lys891=)
c.2034G>A (p.Lys678=)
c.2652G>A (p.Lys884=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813048G>CCA375793337EHMT1c.2910G>C (p.Lys970Asn)
c.2796G>C (p.Lys932Asn)
c.2817G>C (p.Lys939Asn)
c.2950G>C (n.2950G>C)
c.804G>C (p.Lys268Asn)
c.1767G>C (p.Lys589Asn)
c.597G>C
n.436G>C
c.2901G>C (p.Lys967Asn)
c.2892G>C (p.Lys964Asn)
c.2919G>C (p.Lys973Asn)
c.2916G>C (p.Lys972Asn)
c.2898G>C (p.Lys966Asn)
c.2841G>C (p.Lys947Asn)
c.2775G>C (p.Lys925Asn)
c.1341G>C (p.Lys447Asn)
c.693G>C (p.Lys231Asn)
c.480G>C (p.Lys160Asn)
c.2754G>C (p.Lys918Asn)
c.2889G>C (p.Lys963Asn)
c.2895G>C (p.Lys965Asn)
c.2811G>C (p.Lys937Asn)
c.2739G>C (p.Lys913Asn)
c.2673G>C (p.Lys891Asn)
c.2034G>C (p.Lys678Asn)
c.2652G>C (p.Lys884Asn)
9g.137813048G=CA1884685682EHMT1c.2910G= (p.Lys970=)
c.2796G= (p.Lys932=)
c.2817G= (p.Lys939=)
c.2950G= (n.2950G=)
c.804G= (p.Lys268=)
c.1767G= (p.Lys589=)
c.597G=
n.436G=
c.2901G= (p.Lys967=)
c.2892G= (p.Lys964=)
c.2919G= (p.Lys973=)
c.2916G= (p.Lys972=)
c.2898G= (p.Lys966=)
c.2841G= (p.Lys947=)
c.2775G= (p.Lys925=)
c.1341G= (p.Lys447=)
c.693G= (p.Lys231=)
c.480G= (p.Lys160=)
c.2754G= (p.Lys918=)
c.2889G= (p.Lys963=)
c.2895G= (p.Lys965=)
c.2811G= (p.Lys937=)
c.2739G= (p.Lys913=)
c.2673G= (p.Lys891=)
c.2034G= (p.Lys678=)
c.2652G= (p.Lys884=)
9g.137813048G>TCA375793339EHMT1c.2910G>T (p.Lys970Asn)
c.2796G>T (p.Lys932Asn)
c.2817G>T (p.Lys939Asn)
c.2950G>T (n.2950G>T)
c.804G>T (p.Lys268Asn)
c.1767G>T (p.Lys589Asn)
c.597G>T
n.436G>T
c.2901G>T (p.Lys967Asn)
c.2892G>T (p.Lys964Asn)
c.2919G>T (p.Lys973Asn)
c.2916G>T (p.Lys972Asn)
c.2898G>T (p.Lys966Asn)
c.2841G>T (p.Lys947Asn)
c.2775G>T (p.Lys925Asn)
c.1341G>T (p.Lys447Asn)
c.693G>T (p.Lys231Asn)
c.480G>T (p.Lys160Asn)
c.2754G>T (p.Lys918Asn)
c.2889G>T (p.Lys963Asn)
c.2895G>T (p.Lys965Asn)
c.2811G>T (p.Lys937Asn)
c.2739G>T (p.Lys913Asn)
c.2673G>T (p.Lys891Asn)
c.2034G>T (p.Lys678Asn)
c.2652G>T (p.Lys884Asn)
9g.137813049G>ACA375793341EHMT1c.2911G>A (p.Glu971Lys)
c.2797G>A (p.Glu933Lys)
c.2818G>A (p.Glu940Lys)
c.2951G>A (n.2951G>A)
c.805G>A (p.Glu269Lys)
c.1768G>A (p.Glu590Lys)
c.598G>A
n.437G>A
c.2902G>A (p.Glu968Lys)
c.2893G>A (p.Glu965Lys)
c.2920G>A (p.Glu974Lys)
c.2917G>A (p.Glu973Lys)
c.2899G>A (p.Glu967Lys)
c.2842G>A (p.Glu948Lys)
c.2776G>A (p.Glu926Lys)
c.1342G>A (p.Glu448Lys)
c.694G>A (p.Glu232Lys)
c.481G>A (p.Glu161Lys)
c.2755G>A (p.Glu919Lys)
c.2890G>A (p.Glu964Lys)
c.2896G>A (p.Glu966Lys)
c.2812G>A (p.Glu938Lys)
c.2740G>A (p.Glu914Lys)
c.2674G>A (p.Glu892Lys)
c.2035G>A (p.Glu679Lys)
c.2653G>A (p.Glu885Lys)
9g.137813049G>CCA375793343EHMT1c.2911G>C (p.Glu971Gln)
c.2797G>C (p.Glu933Gln)
c.2818G>C (p.Glu940Gln)
c.2951G>C (n.2951G>C)
c.805G>C (p.Glu269Gln)
c.1768G>C (p.Glu590Gln)
c.598G>C
n.437G>C
c.2902G>C (p.Glu968Gln)
c.2893G>C (p.Glu965Gln)
c.2920G>C (p.Glu974Gln)
c.2917G>C (p.Glu973Gln)
c.2899G>C (p.Glu967Gln)
c.2842G>C (p.Glu948Gln)
c.2776G>C (p.Glu926Gln)
c.1342G>C (p.Glu448Gln)
c.694G>C (p.Glu232Gln)
c.481G>C (p.Glu161Gln)
c.2755G>C (p.Glu919Gln)
c.2890G>C (p.Glu964Gln)
c.2896G>C (p.Glu966Gln)
c.2812G>C (p.Glu938Gln)
c.2740G>C (p.Glu914Gln)
c.2674G>C (p.Glu892Gln)
c.2035G>C (p.Glu679Gln)
c.2653G>C (p.Glu885Gln)
9g.137813049G>TCA375793345EHMT1c.2911G>T (p.Glu971Ter)
c.2797G>T (p.Glu933Ter)
c.2818G>T (p.Glu940Ter)
c.2951G>T (n.2951G>T)
c.805G>T (p.Glu269Ter)
c.1768G>T (p.Glu590Ter)
c.598G>T
n.437G>T
c.2902G>T (p.Glu968Ter)
c.2893G>T (p.Glu965Ter)
c.2920G>T (p.Glu974Ter)
c.2917G>T (p.Glu973Ter)
c.2899G>T (p.Glu967Ter)
c.2842G>T (p.Glu948Ter)
c.2776G>T (p.Glu926Ter)
c.1342G>T (p.Glu448Ter)
c.694G>T (p.Glu232Ter)
c.481G>T (p.Glu161Ter)
c.2755G>T (p.Glu919Ter)
c.2890G>T (p.Glu964Ter)
c.2896G>T (p.Glu966Ter)
c.2812G>T (p.Glu938Ter)
c.2740G>T (p.Glu914Ter)
c.2674G>T (p.Glu892Ter)
c.2035G>T (p.Glu679Ter)
c.2653G>T (p.Glu885Ter)
9g.137813050A>CCA375793347EHMT1c.2912A>C (p.Glu971Ala)
c.2798A>C (p.Glu933Ala)
c.2819A>C (p.Glu940Ala)
c.2952A>C (n.2952A>C)
c.806A>C (p.Glu269Ala)
c.1769A>C (p.Glu590Ala)
c.599A>C
n.438A>C
c.2903A>C (p.Glu968Ala)
c.2894A>C (p.Glu965Ala)
c.2921A>C (p.Glu974Ala)
c.2918A>C (p.Glu973Ala)
c.2900A>C (p.Glu967Ala)
c.2843A>C (p.Glu948Ala)
c.2777A>C (p.Glu926Ala)
c.1343A>C (p.Glu448Ala)
c.695A>C (p.Glu232Ala)
c.482A>C (p.Glu161Ala)
c.2756A>C (p.Glu919Ala)
c.2891A>C (p.Glu964Ala)
c.2897A>C (p.Glu966Ala)
c.2813A>C (p.Glu938Ala)
c.2741A>C (p.Glu914Ala)
c.2675A>C (p.Glu892Ala)
c.2036A>C (p.Glu679Ala)
c.2654A>C (p.Glu885Ala)
9g.137813050A>GCA375793348EHMT1c.2912A>G (p.Glu971Gly)
c.2798A>G (p.Glu933Gly)
c.2819A>G (p.Glu940Gly)
c.2952A>G (n.2952A>G)
c.806A>G (p.Glu269Gly)
c.1769A>G (p.Glu590Gly)
c.599A>G
n.438A>G
c.2903A>G (p.Glu968Gly)
c.2894A>G (p.Glu965Gly)
c.2921A>G (p.Glu974Gly)
c.2918A>G (p.Glu973Gly)
c.2900A>G (p.Glu967Gly)
c.2843A>G (p.Glu948Gly)
c.2777A>G (p.Glu926Gly)
c.1343A>G (p.Glu448Gly)
c.695A>G (p.Glu232Gly)
c.482A>G (p.Glu161Gly)
c.2756A>G (p.Glu919Gly)
c.2891A>G (p.Glu964Gly)
c.2897A>G (p.Glu966Gly)
c.2813A>G (p.Glu938Gly)
c.2741A>G (p.Glu914Gly)
c.2675A>G (p.Glu892Gly)
c.2036A>G (p.Glu679Gly)
c.2654A>G (p.Glu885Gly)
 gnomAD v4
9g.137813050A>TCA375793349EHMT1c.2912A>T (p.Glu971Val)
c.2798A>T (p.Glu933Val)
c.2819A>T (p.Glu940Val)
c.2952A>T (n.2952A>T)
c.806A>T (p.Glu269Val)
c.1769A>T (p.Glu590Val)
c.599A>T
n.438A>T
c.2903A>T (p.Glu968Val)
c.2894A>T (p.Glu965Val)
c.2921A>T (p.Glu974Val)
c.2918A>T (p.Glu973Val)
c.2900A>T (p.Glu967Val)
c.2843A>T (p.Glu948Val)
c.2777A>T (p.Glu926Val)
c.1343A>T (p.Glu448Val)
c.695A>T (p.Glu232Val)
c.482A>T (p.Glu161Val)
c.2756A>T (p.Glu919Val)
c.2891A>T (p.Glu964Val)
c.2897A>T (p.Glu966Val)
c.2813A>T (p.Glu938Val)
c.2741A>T (p.Glu914Val)
c.2675A>T (p.Glu892Val)
c.2036A>T (p.Glu679Val)
c.2654A>T (p.Glu885Val)
9g.137813051A>CCA375793351EHMT1c.2913A>C (p.Glu971Asp)
c.2799A>C (p.Glu933Asp)
c.2820A>C (p.Glu940Asp)
c.2953A>C (n.2953A>C)
c.807A>C (p.Glu269Asp)
c.1770A>C (p.Glu590Asp)
c.600A>C
n.439A>C
c.2904A>C (p.Glu968Asp)
c.2895A>C (p.Glu965Asp)
c.2922A>C (p.Glu974Asp)
c.2919A>C (p.Glu973Asp)
c.2901A>C (p.Glu967Asp)
c.2844A>C (p.Glu948Asp)
c.2778A>C (p.Glu926Asp)
c.1344A>C (p.Glu448Asp)
c.696A>C (p.Glu232Asp)
c.483A>C (p.Glu161Asp)
c.2757A>C (p.Glu919Asp)
c.2892A>C (p.Glu964Asp)
c.2898A>C (p.Glu966Asp)
c.2814A>C (p.Glu938Asp)
c.2742A>C (p.Glu914Asp)
c.2676A>C (p.Glu892Asp)
c.2037A>C (p.Glu679Asp)
c.2655A>C (p.Glu885Asp)
9g.137813051A>GCA468161041EHMT1c.2913A>G (p.Glu971=)
c.2799A>G (p.Glu933=)
c.2820A>G (p.Glu940=)
c.2953A>G (n.2953A>G)
c.807A>G (p.Glu269=)
c.1770A>G (p.Glu590=)
c.600A>G
n.439A>G
c.2904A>G (p.Glu968=)
c.2895A>G (p.Glu965=)
c.2922A>G (p.Glu974=)
c.2919A>G (p.Glu973=)
c.2901A>G (p.Glu967=)
c.2844A>G (p.Glu948=)
c.2778A>G (p.Glu926=)
c.1344A>G (p.Glu448=)
c.696A>G (p.Glu232=)
c.483A>G (p.Glu161=)
c.2757A>G (p.Glu919=)
c.2892A>G (p.Glu964=)
c.2898A>G (p.Glu966=)
c.2814A>G (p.Glu938=)
c.2742A>G (p.Glu914=)
c.2676A>G (p.Glu892=)
c.2037A>G (p.Glu679=)
c.2655A>G (p.Glu885=)
9g.137813051A>TCA375793350EHMT1c.2913A>T (p.Glu971Asp)
c.2799A>T (p.Glu933Asp)
c.2820A>T (p.Glu940Asp)
c.2953A>T (n.2953A>T)
c.807A>T (p.Glu269Asp)
c.1770A>T (p.Glu590Asp)
c.600A>T
n.439A>T
c.2904A>T (p.Glu968Asp)
c.2895A>T (p.Glu965Asp)
c.2922A>T (p.Glu974Asp)
c.2919A>T (p.Glu973Asp)
c.2901A>T (p.Glu967Asp)
c.2844A>T (p.Glu948Asp)
c.2778A>T (p.Glu926Asp)
c.1344A>T (p.Glu448Asp)
c.696A>T (p.Glu232Asp)
c.483A>T (p.Glu161Asp)
c.2757A>T (p.Glu919Asp)
c.2892A>T (p.Glu964Asp)
c.2898A>T (p.Glu966Asp)
c.2814A>T (p.Glu938Asp)
c.2742A>T (p.Glu914Asp)
c.2676A>T (p.Glu892Asp)
c.2037A>T (p.Glu679Asp)
c.2655A>T (p.Glu885Asp)
9g.137813052G>ACA375793352EHMT1c.2914G>A (p.Gly972Arg)
c.2800G>A (p.Gly934Arg)
c.2821G>A (p.Gly941Arg)
c.2954G>A (n.2954G>A)
c.808G>A (p.Gly270Arg)
c.1771G>A (p.Gly591Arg)
c.601G>A
n.440G>A
c.2905G>A (p.Gly969Arg)
c.2896G>A (p.Gly966Arg)
c.2923G>A (p.Gly975Arg)
c.2920G>A (p.Gly974Arg)
c.2902G>A (p.Gly968Arg)
c.2845G>A (p.Gly949Arg)
c.2779G>A (p.Gly927Arg)
c.1345G>A (p.Gly449Arg)
c.697G>A (p.Gly233Arg)
c.484G>A (p.Gly162Arg)
c.2758G>A (p.Gly920Arg)
c.2893G>A (p.Gly965Arg)
c.2899G>A (p.Gly967Arg)
c.2815G>A (p.Gly939Arg)
c.2743G>A (p.Gly915Arg)
c.2677G>A (p.Gly893Arg)
c.2038G>A (p.Gly680Arg)
c.2656G>A (p.Gly886Arg)
9g.137813052G>CCA375793353EHMT1c.2914G>C (p.Gly972Arg)
c.2800G>C (p.Gly934Arg)
c.2821G>C (p.Gly941Arg)
c.2954G>C (n.2954G>C)
c.808G>C (p.Gly270Arg)
c.1771G>C (p.Gly591Arg)
c.601G>C
n.440G>C
c.2905G>C (p.Gly969Arg)
c.2896G>C (p.Gly966Arg)
c.2923G>C (p.Gly975Arg)
c.2920G>C (p.Gly974Arg)
c.2902G>C (p.Gly968Arg)
c.2845G>C (p.Gly949Arg)
c.2779G>C (p.Gly927Arg)
c.1345G>C (p.Gly449Arg)
c.697G>C (p.Gly233Arg)
c.484G>C (p.Gly162Arg)
c.2758G>C (p.Gly920Arg)
c.2893G>C (p.Gly965Arg)
c.2899G>C (p.Gly967Arg)
c.2815G>C (p.Gly939Arg)
c.2743G>C (p.Gly915Arg)
c.2677G>C (p.Gly893Arg)
c.2038G>C (p.Gly680Arg)
c.2656G>C (p.Gly886Arg)
9g.137813052G>TCA375793354EHMT1c.2914G>T (p.Gly972Ter)
c.2800G>T (p.Gly934Ter)
c.2821G>T (p.Gly941Ter)
c.2954G>T (n.2954G>T)
c.808G>T (p.Gly270Ter)
c.1771G>T (p.Gly591Ter)
c.601G>T
n.440G>T
c.2905G>T (p.Gly969Ter)
c.2896G>T (p.Gly966Ter)
c.2923G>T (p.Gly975Ter)
c.2920G>T (p.Gly974Ter)
c.2902G>T (p.Gly968Ter)
c.2845G>T (p.Gly949Ter)
c.2779G>T (p.Gly927Ter)
c.1345G>T (p.Gly449Ter)
c.697G>T (p.Gly233Ter)
c.484G>T (p.Gly162Ter)
c.2758G>T (p.Gly920Ter)
c.2893G>T (p.Gly965Ter)
c.2899G>T (p.Gly967Ter)
c.2815G>T (p.Gly939Ter)
c.2743G>T (p.Gly915Ter)
c.2677G>T (p.Gly893Ter)
c.2038G>T (p.Gly680Ter)
c.2656G>T (p.Gly886Ter)
9g.137813053G>ACA375793355EHMT1c.2915G>A (p.Gly972Glu)
c.2801G>A (p.Gly934Glu)
c.2822G>A (p.Gly941Glu)
c.2955G>A (n.2955G>A)
c.809G>A (p.Gly270Glu)
c.1772G>A (p.Gly591Glu)
c.602G>A
n.441G>A
c.2906G>A (p.Gly969Glu)
c.2897G>A (p.Gly966Glu)
c.2924G>A (p.Gly975Glu)
c.2921G>A (p.Gly974Glu)
c.2903G>A (p.Gly968Glu)
c.2846G>A (p.Gly949Glu)
c.2780G>A (p.Gly927Glu)
c.1346G>A (p.Gly449Glu)
c.698G>A (p.Gly233Glu)
c.485G>A (p.Gly162Glu)
c.2759G>A (p.Gly920Glu)
c.2894G>A (p.Gly965Glu)
c.2900G>A (p.Gly967Glu)
c.2816G>A (p.Gly939Glu)
c.2744G>A (p.Gly915Glu)
c.2678G>A (p.Gly893Glu)
c.2039G>A (p.Gly680Glu)
c.2657G>A (p.Gly886Glu)
9g.137813053G>CCA375793356EHMT1c.2915G>C (p.Gly972Ala)
c.2801G>C (p.Gly934Ala)
c.2822G>C (p.Gly941Ala)
c.2955G>C (n.2955G>C)
c.809G>C (p.Gly270Ala)
c.1772G>C (p.Gly591Ala)
c.602G>C
n.441G>C
c.2906G>C (p.Gly969Ala)
c.2897G>C (p.Gly966Ala)
c.2924G>C (p.Gly975Ala)
c.2921G>C (p.Gly974Ala)
c.2903G>C (p.Gly968Ala)
c.2846G>C (p.Gly949Ala)
c.2780G>C (p.Gly927Ala)
c.1346G>C (p.Gly449Ala)
c.698G>C (p.Gly233Ala)
c.485G>C (p.Gly162Ala)
c.2759G>C (p.Gly920Ala)
c.2894G>C (p.Gly965Ala)
c.2900G>C (p.Gly967Ala)
c.2816G>C (p.Gly939Ala)
c.2744G>C (p.Gly915Ala)
c.2678G>C (p.Gly893Ala)
c.2039G>C (p.Gly680Ala)
c.2657G>C (p.Gly886Ala)
 gnomAD v4
9g.137813053G>TCA375793357EHMT1c.2915G>T (p.Gly972Val)
c.2801G>T (p.Gly934Val)
c.2822G>T (p.Gly941Val)
c.2955G>T (n.2955G>T)
c.809G>T (p.Gly270Val)
c.1772G>T (p.Gly591Val)
c.602G>T
n.441G>T
c.2906G>T (p.Gly969Val)
c.2897G>T (p.Gly966Val)
c.2924G>T (p.Gly975Val)
c.2921G>T (p.Gly974Val)
c.2903G>T (p.Gly968Val)
c.2846G>T (p.Gly949Val)
c.2780G>T (p.Gly927Val)
c.1346G>T (p.Gly449Val)
c.698G>T (p.Gly233Val)
c.485G>T (p.Gly162Val)
c.2759G>T (p.Gly920Val)
c.2894G>T (p.Gly965Val)
c.2900G>T (p.Gly967Val)
c.2816G>T (p.Gly939Val)
c.2744G>T (p.Gly915Val)
c.2678G>T (p.Gly893Val)
c.2039G>T (p.Gly680Val)
c.2657G>T (p.Gly886Val)
9g.137813054A>CCA468161042EHMT1c.2916A>C (p.Gly972=)
c.2802A>C (p.Gly934=)
c.2823A>C (p.Gly941=)
c.2956A>C (n.2956A>C)
c.810A>C (p.Gly270=)
c.1773A>C (p.Gly591=)
c.603A>C
n.442A>C
c.2907A>C (p.Gly969=)
c.2898A>C (p.Gly966=)
c.2925A>C (p.Gly975=)
c.2922A>C (p.Gly974=)
c.2904A>C (p.Gly968=)
c.2847A>C (p.Gly949=)
c.2781A>C (p.Gly927=)
c.1347A>C (p.Gly449=)
c.699A>C (p.Gly233=)
c.486A>C (p.Gly162=)
c.2760A>C (p.Gly920=)
c.2895A>C (p.Gly965=)
c.2901A>C (p.Gly967=)
c.2817A>C (p.Gly939=)
c.2745A>C (p.Gly915=)
c.2679A>C (p.Gly893=)
c.2040A>C (p.Gly680=)
c.2658A>C (p.Gly886=)
9g.137813054A>GCA468161043EHMT1c.2916A>G (p.Gly972=)
c.2802A>G (p.Gly934=)
c.2823A>G (p.Gly941=)
c.2956A>G (n.2956A>G)
c.810A>G (p.Gly270=)
c.1773A>G (p.Gly591=)
c.603A>G
n.442A>G
c.2907A>G (p.Gly969=)
c.2898A>G (p.Gly966=)
c.2925A>G (p.Gly975=)
c.2922A>G (p.Gly974=)
c.2904A>G (p.Gly968=)
c.2847A>G (p.Gly949=)
c.2781A>G (p.Gly927=)
c.1347A>G (p.Gly449=)
c.699A>G (p.Gly233=)
c.486A>G (p.Gly162=)
c.2760A>G (p.Gly920=)
c.2895A>G (p.Gly965=)
c.2901A>G (p.Gly967=)
c.2817A>G (p.Gly939=)
c.2745A>G (p.Gly915=)
c.2679A>G (p.Gly893=)
c.2040A>G (p.Gly680=)
c.2658A>G (p.Gly886=)
 gnomAD v4
9g.137813054A>TCA468161044EHMT1c.2916A>T (p.Gly972=)
c.2802A>T (p.Gly934=)
c.2823A>T (p.Gly941=)
c.2956A>T (n.2956A>T)
c.810A>T (p.Gly270=)
c.1773A>T (p.Gly591=)
c.603A>T
n.442A>T
c.2907A>T (p.Gly969=)
c.2898A>T (p.Gly966=)
c.2925A>T (p.Gly975=)
c.2922A>T (p.Gly974=)
c.2904A>T (p.Gly968=)
c.2847A>T (p.Gly949=)
c.2781A>T (p.Gly927=)
c.1347A>T (p.Gly449=)
c.699A>T (p.Gly233=)
c.486A>T (p.Gly162=)
c.2760A>T (p.Gly920=)
c.2895A>T (p.Gly965=)
c.2901A>T (p.Gly967=)
c.2817A>T (p.Gly939=)
c.2745A>T (p.Gly915=)
c.2679A>T (p.Gly893=)
c.2040A>T (p.Gly680=)
c.2658A>T (p.Gly886=)
9g.137813055G>ACA375793360EHMT1c.2917G>A (p.Glu973Lys)
c.2803G>A (p.Glu935Lys)
c.2824G>A (p.Glu942Lys)
c.2957G>A (n.2957G>A)
c.811G>A (p.Glu271Lys)
c.1774G>A (p.Glu592Lys)
c.604G>A
n.443G>A
c.2908G>A (p.Glu970Lys)
c.2899G>A (p.Glu967Lys)
c.2926G>A (p.Glu976Lys)
c.2923G>A (p.Glu975Lys)
c.2905G>A (p.Glu969Lys)
c.2848G>A (p.Glu950Lys)
c.2782G>A (p.Glu928Lys)
c.1348G>A (p.Glu450Lys)
c.700G>A (p.Glu234Lys)
c.487G>A (p.Glu163Lys)
c.2761G>A (p.Glu921Lys)
c.2896G>A (p.Glu966Lys)
c.2902G>A (p.Glu968Lys)
c.2818G>A (p.Glu940Lys)
c.2746G>A (p.Glu916Lys)
c.2680G>A (p.Glu894Lys)
c.2041G>A (p.Glu681Lys)
c.2659G>A (p.Glu887Lys)
9g.137813055G>CCA375793358EHMT1c.2917G>C (p.Glu973Gln)
c.2803G>C (p.Glu935Gln)
c.2824G>C (p.Glu942Gln)
c.2957G>C (n.2957G>C)
c.811G>C (p.Glu271Gln)
c.1774G>C (p.Glu592Gln)
c.604G>C
n.443G>C
c.2908G>C (p.Glu970Gln)
c.2899G>C (p.Glu967Gln)
c.2926G>C (p.Glu976Gln)
c.2923G>C (p.Glu975Gln)
c.2905G>C (p.Glu969Gln)
c.2848G>C (p.Glu950Gln)
c.2782G>C (p.Glu928Gln)
c.1348G>C (p.Glu450Gln)
c.700G>C (p.Glu234Gln)
c.487G>C (p.Glu163Gln)
c.2761G>C (p.Glu921Gln)
c.2896G>C (p.Glu966Gln)
c.2902G>C (p.Glu968Gln)
c.2818G>C (p.Glu940Gln)
c.2746G>C (p.Glu916Gln)
c.2680G>C (p.Glu894Gln)
c.2041G>C (p.Glu681Gln)
c.2659G>C (p.Glu887Gln)
9g.137813055G>TCA375793359EHMT1c.2917G>T (p.Glu973Ter)
c.2803G>T (p.Glu935Ter)
c.2824G>T (p.Glu942Ter)
c.2957G>T (n.2957G>T)
c.811G>T (p.Glu271Ter)
c.1774G>T (p.Glu592Ter)
c.604G>T
n.443G>T
c.2908G>T (p.Glu970Ter)
c.2899G>T (p.Glu967Ter)
c.2926G>T (p.Glu976Ter)
c.2923G>T (p.Glu975Ter)
c.2905G>T (p.Glu969Ter)
c.2848G>T (p.Glu950Ter)
c.2782G>T (p.Glu928Ter)
c.1348G>T (p.Glu450Ter)
c.700G>T (p.Glu234Ter)
c.487G>T (p.Glu163Ter)
c.2761G>T (p.Glu921Ter)
c.2896G>T (p.Glu966Ter)
c.2902G>T (p.Glu968Ter)
c.2818G>T (p.Glu940Ter)
c.2746G>T (p.Glu916Ter)
c.2680G>T (p.Glu894Ter)
c.2041G>T (p.Glu681Ter)
c.2659G>T (p.Glu887Ter)
9g.137813056A>CCA375793361EHMT1c.2918A>C (p.Glu973Ala)
c.2804A>C (p.Glu935Ala)
c.2825A>C (p.Glu942Ala)
c.2958A>C (n.2958A>C)
c.812A>C (p.Glu271Ala)
c.1775A>C (p.Glu592Ala)
c.605A>C
n.444A>C
c.2909A>C (p.Glu970Ala)
c.2900A>C (p.Glu967Ala)
c.2927A>C (p.Glu976Ala)
c.2924A>C (p.Glu975Ala)
c.2906A>C (p.Glu969Ala)
c.2849A>C (p.Glu950Ala)
c.2783A>C (p.Glu928Ala)
c.1349A>C (p.Glu450Ala)
c.701A>C (p.Glu234Ala)
c.488A>C (p.Glu163Ala)
c.2762A>C (p.Glu921Ala)
c.2897A>C (p.Glu966Ala)
c.2903A>C (p.Glu968Ala)
c.2819A>C (p.Glu940Ala)
c.2747A>C (p.Glu916Ala)
c.2681A>C (p.Glu894Ala)
c.2042A>C (p.Glu681Ala)
c.2660A>C (p.Glu887Ala)
9g.137813056A>GCA375793362EHMT1c.2918A>G (p.Glu973Gly)
c.2804A>G (p.Glu935Gly)
c.2825A>G (p.Glu942Gly)
c.2958A>G (n.2958A>G)
c.812A>G (p.Glu271Gly)
c.1775A>G (p.Glu592Gly)
c.605A>G
n.444A>G
c.2909A>G (p.Glu970Gly)
c.2900A>G (p.Glu967Gly)
c.2927A>G (p.Glu976Gly)
c.2924A>G (p.Glu975Gly)
c.2906A>G (p.Glu969Gly)
c.2849A>G (p.Glu950Gly)
c.2783A>G (p.Glu928Gly)
c.1349A>G (p.Glu450Gly)
c.701A>G (p.Glu234Gly)
c.488A>G (p.Glu163Gly)
c.2762A>G (p.Glu921Gly)
c.2897A>G (p.Glu966Gly)
c.2903A>G (p.Glu968Gly)
c.2819A>G (p.Glu940Gly)
c.2747A>G (p.Glu916Gly)
c.2681A>G (p.Glu894Gly)
c.2042A>G (p.Glu681Gly)
c.2660A>G (p.Glu887Gly)
9g.137813056A>TCA375793363EHMT1c.2918A>T (p.Glu973Val)
c.2804A>T (p.Glu935Val)
c.2825A>T (p.Glu942Val)
c.2958A>T (n.2958A>T)
c.812A>T (p.Glu271Val)
c.1775A>T (p.Glu592Val)
c.605A>T
n.444A>T
c.2909A>T (p.Glu970Val)
c.2900A>T (p.Glu967Val)
c.2927A>T (p.Glu976Val)
c.2924A>T (p.Glu975Val)
c.2906A>T (p.Glu969Val)
c.2849A>T (p.Glu950Val)
c.2783A>T (p.Glu928Val)
c.1349A>T (p.Glu450Val)
c.701A>T (p.Glu234Val)
c.488A>T (p.Glu163Val)
c.2762A>T (p.Glu921Val)
c.2897A>T (p.Glu966Val)
c.2903A>T (p.Glu968Val)
c.2819A>T (p.Glu940Val)
c.2747A>T (p.Glu916Val)
c.2681A>T (p.Glu894Val)
c.2042A>T (p.Glu681Val)
c.2660A>T (p.Glu887Val)
 gnomAD v4
9g.137813057G>ACA468161045EHMT1c.2919G>A (p.Glu973=)
c.2805G>A (p.Glu935=)
c.2826G>A (p.Glu942=)
c.2959G>A (n.2959G>A)
c.813G>A (p.Glu271=)
c.1776G>A (p.Glu592=)
c.606G>A
n.445G>A
c.2910G>A (p.Glu970=)
c.2901G>A (p.Glu967=)
c.2928G>A (p.Glu976=)
c.2925G>A (p.Glu975=)
c.2907G>A (p.Glu969=)
c.2850G>A (p.Glu950=)
c.2784G>A (p.Glu928=)
c.1350G>A (p.Glu450=)
c.702G>A (p.Glu234=)
c.489G>A (p.Glu163=)
c.2763G>A (p.Glu921=)
c.2898G>A (p.Glu966=)
c.2904G>A (p.Glu968=)
c.2820G>A (p.Glu940=)
c.2748G>A (p.Glu916=)
c.2682G>A (p.Glu894=)
c.2043G>A (p.Glu681=)
c.2661G>A (p.Glu887=)
9g.137813057G>CCA375793364EHMT1c.2919G>C (p.Glu973Asp)
c.2805G>C (p.Glu935Asp)
c.2826G>C (p.Glu942Asp)
c.2959G>C (n.2959G>C)
c.813G>C (p.Glu271Asp)
c.1776G>C (p.Glu592Asp)
c.606G>C
n.445G>C
c.2910G>C (p.Glu970Asp)
c.2901G>C (p.Glu967Asp)
c.2928G>C (p.Glu976Asp)
c.2925G>C (p.Glu975Asp)
c.2907G>C (p.Glu969Asp)
c.2850G>C (p.Glu950Asp)
c.2784G>C (p.Glu928Asp)
c.1350G>C (p.Glu450Asp)
c.702G>C (p.Glu234Asp)
c.489G>C (p.Glu163Asp)
c.2763G>C (p.Glu921Asp)
c.2898G>C (p.Glu966Asp)
c.2904G>C (p.Glu968Asp)
c.2820G>C (p.Glu940Asp)
c.2748G>C (p.Glu916Asp)
c.2682G>C (p.Glu894Asp)
c.2043G>C (p.Glu681Asp)
c.2661G>C (p.Glu887Asp)
 dbSNP
9g.137813057G>TCA375793365EHMT1c.2919G>T (p.Glu973Asp)
c.2805G>T (p.Glu935Asp)
c.2826G>T (p.Glu942Asp)
c.2959G>T (n.2959G>T)
c.813G>T (p.Glu271Asp)
c.1776G>T (p.Glu592Asp)
c.606G>T
n.445G>T
c.2910G>T (p.Glu970Asp)
c.2901G>T (p.Glu967Asp)
c.2928G>T (p.Glu976Asp)
c.2925G>T (p.Glu975Asp)
c.2907G>T (p.Glu969Asp)
c.2850G>T (p.Glu950Asp)
c.2784G>T (p.Glu928Asp)
c.1350G>T (p.Glu450Asp)
c.702G>T (p.Glu234Asp)
c.489G>T (p.Glu163Asp)
c.2763G>T (p.Glu921Asp)
c.2898G>T (p.Glu966Asp)
c.2904G>T (p.Glu968Asp)
c.2820G>T (p.Glu940Asp)
c.2748G>T (p.Glu916Asp)
c.2682G>T (p.Glu894Asp)
c.2043G>T (p.Glu681Asp)
c.2661G>T (p.Glu887Asp)
9g.137813058A>CCA375793366EHMT1c.2920A>C (p.Thr974Pro)
c.2806A>C (p.Thr936Pro)
c.2827A>C (p.Thr943Pro)
c.2960A>C (n.2960A>C)
c.814A>C (p.Thr272Pro)
c.1777A>C (p.Thr593Pro)
c.607A>C
n.446A>C
c.2911A>C (p.Thr971Pro)
c.2902A>C (p.Thr968Pro)
c.2929A>C (p.Thr977Pro)
c.2926A>C (p.Thr976Pro)
c.2908A>C (p.Thr970Pro)
c.2851A>C (p.Thr951Pro)
c.2785A>C (p.Thr929Pro)
c.1351A>C (p.Thr451Pro)
c.703A>C (p.Thr235Pro)
c.490A>C (p.Thr164Pro)
c.2764A>C (p.Thr922Pro)
c.2899A>C (p.Thr967Pro)
c.2905A>C (p.Thr969Pro)
c.2821A>C (p.Thr941Pro)
c.2749A>C (p.Thr917Pro)
c.2683A>C (p.Thr895Pro)
c.2044A>C (p.Thr682Pro)
c.2662A>C (p.Thr888Pro)
9g.137813058A>GCA375793368EHMT1c.2920A>G (p.Thr974Ala)
c.2806A>G (p.Thr936Ala)
c.2827A>G (p.Thr943Ala)
c.2960A>G (n.2960A>G)
c.814A>G (p.Thr272Ala)
c.1777A>G (p.Thr593Ala)
c.607A>G
n.446A>G
c.2911A>G (p.Thr971Ala)
c.2902A>G (p.Thr968Ala)
c.2929A>G (p.Thr977Ala)
c.2926A>G (p.Thr976Ala)
c.2908A>G (p.Thr970Ala)
c.2851A>G (p.Thr951Ala)
c.2785A>G (p.Thr929Ala)
c.1351A>G (p.Thr451Ala)
c.703A>G (p.Thr235Ala)
c.490A>G (p.Thr164Ala)
c.2764A>G (p.Thr922Ala)
c.2899A>G (p.Thr967Ala)
c.2905A>G (p.Thr969Ala)
c.2821A>G (p.Thr941Ala)
c.2749A>G (p.Thr917Ala)
c.2683A>G (p.Thr895Ala)
c.2044A>G (p.Thr682Ala)
c.2662A>G (p.Thr888Ala)
9g.137813058A>TCA375793367EHMT1c.2920A>T (p.Thr974Ser)
c.2806A>T (p.Thr936Ser)
c.2827A>T (p.Thr943Ser)
c.2960A>T (n.2960A>T)
c.814A>T (p.Thr272Ser)
c.1777A>T (p.Thr593Ser)
c.607A>T
n.446A>T
c.2911A>T (p.Thr971Ser)
c.2902A>T (p.Thr968Ser)
c.2929A>T (p.Thr977Ser)
c.2926A>T (p.Thr976Ser)
c.2908A>T (p.Thr970Ser)
c.2851A>T (p.Thr951Ser)
c.2785A>T (p.Thr929Ser)
c.1351A>T (p.Thr451Ser)
c.703A>T (p.Thr235Ser)
c.490A>T (p.Thr164Ser)
c.2764A>T (p.Thr922Ser)
c.2899A>T (p.Thr967Ser)
c.2905A>T (p.Thr969Ser)
c.2821A>T (p.Thr941Ser)
c.2749A>T (p.Thr917Ser)
c.2683A>T (p.Thr895Ser)
c.2044A>T (p.Thr682Ser)
c.2662A>T (p.Thr888Ser)
9g.137813059C>ACA375793369EHMT1c.2921C>A (p.Thr974Lys)
c.2807C>A (p.Thr936Lys)
c.2828C>A (p.Thr943Lys)
c.2961C>A (n.2961C>A)
c.815C>A (p.Thr272Lys)
c.1778C>A (p.Thr593Lys)
c.608C>A
n.447C>A
c.2912C>A (p.Thr971Lys)
c.2903C>A (p.Thr968Lys)
c.2930C>A (p.Thr977Lys)
c.2927C>A (p.Thr976Lys)
c.2909C>A (p.Thr970Lys)
c.2852C>A (p.Thr951Lys)
c.2786C>A (p.Thr929Lys)
c.1352C>A (p.Thr451Lys)
c.704C>A (p.Thr235Lys)
c.491C>A (p.Thr164Lys)
c.2765C>A (p.Thr922Lys)
c.2900C>A (p.Thr967Lys)
c.2906C>A (p.Thr969Lys)
c.2822C>A (p.Thr941Lys)
c.2750C>A (p.Thr917Lys)
c.2684C>A (p.Thr895Lys)
c.2045C>A (p.Thr682Lys)
c.2663C>A (p.Thr888Lys)
9g.137813059C=CA1884685683EHMT1c.2921C= (p.Thr974=)
c.2807C= (p.Thr936=)
c.2828C= (p.Thr943=)
c.2961C= (n.2961C=)
c.815C= (p.Thr272=)
c.1778C= (p.Thr593=)
c.608C=
n.447C=
c.2912C= (p.Thr971=)
c.2903C= (p.Thr968=)
c.2930C= (p.Thr977=)
c.2927C= (p.Thr976=)
c.2909C= (p.Thr970=)
c.2852C= (p.Thr951=)
c.2786C= (p.Thr929=)
c.1352C= (p.Thr451=)
c.704C= (p.Thr235=)
c.491C= (p.Thr164=)
c.2765C= (p.Thr922=)
c.2900C= (p.Thr967=)
c.2906C= (p.Thr969=)
c.2822C= (p.Thr941=)
c.2750C= (p.Thr917=)
c.2684C= (p.Thr895=)
c.2045C= (p.Thr682=)
c.2663C= (p.Thr888=)
9g.137813059C>GCA375793370EHMT1c.2921C>G (p.Thr974Arg)
c.2807C>G (p.Thr936Arg)
c.2828C>G (p.Thr943Arg)
c.2961C>G (n.2961C>G)
c.815C>G (p.Thr272Arg)
c.1778C>G (p.Thr593Arg)
c.608C>G
n.447C>G
c.2912C>G (p.Thr971Arg)
c.2903C>G (p.Thr968Arg)
c.2930C>G (p.Thr977Arg)
c.2927C>G (p.Thr976Arg)
c.2909C>G (p.Thr970Arg)
c.2852C>G (p.Thr951Arg)
c.2786C>G (p.Thr929Arg)
c.1352C>G (p.Thr451Arg)
c.704C>G (p.Thr235Arg)
c.491C>G (p.Thr164Arg)
c.2765C>G (p.Thr922Arg)
c.2900C>G (p.Thr967Arg)
c.2906C>G (p.Thr969Arg)
c.2822C>G (p.Thr941Arg)
c.2750C>G (p.Thr917Arg)
c.2684C>G (p.Thr895Arg)
c.2045C>G (p.Thr682Arg)
c.2663C>G (p.Thr888Arg)
9g.137813059C>TCA5375102EHMT1c.2921C>T (p.Thr974Met)
c.2807C>T (p.Thr936Met)
c.2828C>T (p.Thr943Met)
c.2961C>T (n.2961C>T)
c.815C>T (p.Thr272Met)
c.1778C>T (p.Thr593Met)
c.608C>T
n.447C>T
c.2912C>T (p.Thr971Met)
c.2903C>T (p.Thr968Met)
c.2930C>T (p.Thr977Met)
c.2927C>T (p.Thr976Met)
c.2909C>T (p.Thr970Met)
c.2852C>T (p.Thr951Met)
c.2786C>T (p.Thr929Met)
c.1352C>T (p.Thr451Met)
c.704C>T (p.Thr235Met)
c.491C>T (p.Thr164Met)
c.2765C>T (p.Thr922Met)
c.2900C>T (p.Thr967Met)
c.2906C>T (p.Thr969Met)
c.2822C>T (p.Thr941Met)
c.2750C>T (p.Thr917Met)
c.2684C>T (p.Thr895Met)
c.2045C>T (p.Thr682Met)
c.2663C>T (p.Thr888Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813060G>ACA5375103EHMT1c.2922G>A (p.Thr974=)
c.2808G>A (p.Thr936=)
c.2829G>A (p.Thr943=)
c.2962G>A (n.2962G>A)
c.816G>A (p.Thr272=)
c.1779G>A (p.Thr593=)
c.609G>A
n.448G>A
c.2913G>A (p.Thr971=)
c.2904G>A (p.Thr968=)
c.2931G>A (p.Thr977=)
c.2928G>A (p.Thr976=)
c.2910G>A (p.Thr970=)
c.2853G>A (p.Thr951=)
c.2787G>A (p.Thr929=)
c.1353G>A (p.Thr451=)
c.705G>A (p.Thr235=)
c.492G>A (p.Thr164=)
c.2766G>A (p.Thr922=)
c.2901G>A (p.Thr967=)
c.2907G>A (p.Thr969=)
c.2823G>A (p.Thr941=)
c.2751G>A (p.Thr917=)
c.2685G>A (p.Thr895=)
c.2046G>A (p.Thr682=)
c.2664G>A (p.Thr888=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813060G>CCA468161046EHMT1c.2922G>C (p.Thr974=)
c.2808G>C (p.Thr936=)
c.2829G>C (p.Thr943=)
c.2962G>C (n.2962G>C)
c.816G>C (p.Thr272=)
c.1779G>C (p.Thr593=)
c.609G>C
n.448G>C
c.2913G>C (p.Thr971=)
c.2904G>C (p.Thr968=)
c.2931G>C (p.Thr977=)
c.2928G>C (p.Thr976=)
c.2910G>C (p.Thr970=)
c.2853G>C (p.Thr951=)
c.2787G>C (p.Thr929=)
c.1353G>C (p.Thr451=)
c.705G>C (p.Thr235=)
c.492G>C (p.Thr164=)
c.2766G>C (p.Thr922=)
c.2901G>C (p.Thr967=)
c.2907G>C (p.Thr969=)
c.2823G>C (p.Thr941=)
c.2751G>C (p.Thr917=)
c.2685G>C (p.Thr895=)
c.2046G>C (p.Thr682=)
c.2664G>C (p.Thr888=)
9g.137813060G=CA1884685684EHMT1c.2922G= (p.Thr974=)
c.2808G= (p.Thr936=)
c.2829G= (p.Thr943=)
c.2962G= (n.2962G=)
c.816G= (p.Thr272=)
c.1779G= (p.Thr593=)
c.609G=
n.448G=
c.2913G= (p.Thr971=)
c.2904G= (p.Thr968=)
c.2931G= (p.Thr977=)
c.2928G= (p.Thr976=)
c.2910G= (p.Thr970=)
c.2853G= (p.Thr951=)
c.2787G= (p.Thr929=)
c.1353G= (p.Thr451=)
c.705G= (p.Thr235=)
c.492G= (p.Thr164=)
c.2766G= (p.Thr922=)
c.2901G= (p.Thr967=)
c.2907G= (p.Thr969=)
c.2823G= (p.Thr941=)
c.2751G= (p.Thr917=)
c.2685G= (p.Thr895=)
c.2046G= (p.Thr682=)
c.2664G= (p.Thr888=)
9g.137813060G>TCA468161047EHMT1c.2922G>T (p.Thr974=)
c.2808G>T (p.Thr936=)
c.2829G>T (p.Thr943=)
c.2962G>T (n.2962G>T)
c.816G>T (p.Thr272=)
c.1779G>T (p.Thr593=)
c.609G>T
n.448G>T
c.2913G>T (p.Thr971=)
c.2904G>T (p.Thr968=)
c.2931G>T (p.Thr977=)
c.2928G>T (p.Thr976=)
c.2910G>T (p.Thr970=)
c.2853G>T (p.Thr951=)
c.2787G>T (p.Thr929=)
c.1353G>T (p.Thr451=)
c.705G>T (p.Thr235=)
c.492G>T (p.Thr164=)
c.2766G>T (p.Thr922=)
c.2901G>T (p.Thr967=)
c.2907G>T (p.Thr969=)
c.2823G>T (p.Thr941=)
c.2751G>T (p.Thr917=)
c.2685G>T (p.Thr895=)
c.2046G>T (p.Thr682=)
c.2664G>T (p.Thr888=)
 gnomAD v4
9g.137813061C>ACA375793371EHMT1c.2923C>A (p.Pro975Thr)
c.2809C>A (p.Pro937Thr)
c.2830C>A (p.Pro944Thr)
c.2963C>A (n.2963C>A)
c.817C>A (p.Pro273Thr)
c.1780C>A (p.Pro594Thr)
c.610C>A
n.449C>A
c.2914C>A (p.Pro972Thr)
c.2905C>A (p.Pro969Thr)
c.2932C>A (p.Pro978Thr)
c.2929C>A (p.Pro977Thr)
c.2911C>A (p.Pro971Thr)
c.2854C>A (p.Pro952Thr)
c.2788C>A (p.Pro930Thr)
c.1354C>A (p.Pro452Thr)
c.706C>A (p.Pro236Thr)
c.493C>A (p.Pro165Thr)
c.2767C>A (p.Pro923Thr)
c.2902C>A (p.Pro968Thr)
c.2908C>A (p.Pro970Thr)
c.2824C>A (p.Pro942Thr)
c.2752C>A (p.Pro918Thr)
c.2686C>A (p.Pro896Thr)
c.2047C>A (p.Pro683Thr)
c.2665C>A (p.Pro889Thr)
9g.137813061C>GCA375793372EHMT1c.2923C>G (p.Pro975Ala)
c.2809C>G (p.Pro937Ala)
c.2830C>G (p.Pro944Ala)
c.2963C>G (n.2963C>G)
c.817C>G (p.Pro273Ala)
c.1780C>G (p.Pro594Ala)
c.610C>G
n.449C>G
c.2914C>G (p.Pro972Ala)
c.2905C>G (p.Pro969Ala)
c.2932C>G (p.Pro978Ala)
c.2929C>G (p.Pro977Ala)
c.2911C>G (p.Pro971Ala)
c.2854C>G (p.Pro952Ala)
c.2788C>G (p.Pro930Ala)
c.1354C>G (p.Pro452Ala)
c.706C>G (p.Pro236Ala)
c.493C>G (p.Pro165Ala)
c.2767C>G (p.Pro923Ala)
c.2902C>G (p.Pro968Ala)
c.2908C>G (p.Pro970Ala)
c.2824C>G (p.Pro942Ala)
c.2752C>G (p.Pro918Ala)
c.2686C>G (p.Pro896Ala)
c.2047C>G (p.Pro683Ala)
c.2665C>G (p.Pro889Ala)
 ClinVar gnomAD v4
9g.137813061C>TCA375793373EHMT1c.2923C>T (p.Pro975Ser)
c.2809C>T (p.Pro937Ser)
c.2830C>T (p.Pro944Ser)
c.2963C>T (n.2963C>T)
c.817C>T (p.Pro273Ser)
c.1780C>T (p.Pro594Ser)
c.610C>T
n.449C>T
c.2914C>T (p.Pro972Ser)
c.2905C>T (p.Pro969Ser)
c.2932C>T (p.Pro978Ser)
c.2929C>T (p.Pro977Ser)
c.2911C>T (p.Pro971Ser)
c.2854C>T (p.Pro952Ser)
c.2788C>T (p.Pro930Ser)
c.1354C>T (p.Pro452Ser)
c.706C>T (p.Pro236Ser)
c.493C>T (p.Pro165Ser)
c.2767C>T (p.Pro923Ser)
c.2902C>T (p.Pro968Ser)
c.2908C>T (p.Pro970Ser)
c.2824C>T (p.Pro942Ser)
c.2752C>T (p.Pro918Ser)
c.2686C>T (p.Pro896Ser)
c.2047C>T (p.Pro683Ser)
c.2665C>T (p.Pro889Ser)
 gnomAD v4
9g.137813062C>ACA375793374EHMT1c.2924C>A (p.Pro975His)
c.2810C>A (p.Pro937His)
c.2831C>A (p.Pro944His)
c.2964C>A (n.2964C>A)
c.818C>A (p.Pro273His)
c.1781C>A (p.Pro594His)
c.611C>A
n.450C>A
c.2915C>A (p.Pro972His)
c.2906C>A (p.Pro969His)
c.2933C>A (p.Pro978His)
c.2930C>A (p.Pro977His)
c.2912C>A (p.Pro971His)
c.2855C>A (p.Pro952His)
c.2789C>A (p.Pro930His)
c.1355C>A (p.Pro452His)
c.707C>A (p.Pro236His)
c.494C>A (p.Pro165His)
c.2768C>A (p.Pro923His)
c.2903C>A (p.Pro968His)
c.2909C>A (p.Pro970His)
c.2825C>A (p.Pro942His)
c.2753C>A (p.Pro918His)
c.2687C>A (p.Pro896His)
c.2048C>A (p.Pro683His)
c.2666C>A (p.Pro889His)
9g.137813062C>GCA375793375EHMT1c.2924C>G (p.Pro975Arg)
c.2810C>G (p.Pro937Arg)
c.2831C>G (p.Pro944Arg)
c.2964C>G (n.2964C>G)
c.818C>G (p.Pro273Arg)
c.1781C>G (p.Pro594Arg)
c.611C>G
n.450C>G
c.2915C>G (p.Pro972Arg)
c.2906C>G (p.Pro969Arg)
c.2933C>G (p.Pro978Arg)
c.2930C>G (p.Pro977Arg)
c.2912C>G (p.Pro971Arg)
c.2855C>G (p.Pro952Arg)
c.2789C>G (p.Pro930Arg)
c.1355C>G (p.Pro452Arg)
c.707C>G (p.Pro236Arg)
c.494C>G (p.Pro165Arg)
c.2768C>G (p.Pro923Arg)
c.2903C>G (p.Pro968Arg)
c.2909C>G (p.Pro970Arg)
c.2825C>G (p.Pro942Arg)
c.2753C>G (p.Pro918Arg)
c.2687C>G (p.Pro896Arg)
c.2048C>G (p.Pro683Arg)
c.2666C>G (p.Pro889Arg)
9g.137813062C>TCA375793376EHMT1c.2924C>T (p.Pro975Leu)
c.2810C>T (p.Pro937Leu)
c.2831C>T (p.Pro944Leu)
c.2964C>T (n.2964C>T)
c.818C>T (p.Pro273Leu)
c.1781C>T (p.Pro594Leu)
c.611C>T
n.450C>T
c.2915C>T (p.Pro972Leu)
c.2906C>T (p.Pro969Leu)
c.2933C>T (p.Pro978Leu)
c.2930C>T (p.Pro977Leu)
c.2912C>T (p.Pro971Leu)
c.2855C>T (p.Pro952Leu)
c.2789C>T (p.Pro930Leu)
c.1355C>T (p.Pro452Leu)
c.707C>T (p.Pro236Leu)
c.494C>T (p.Pro165Leu)
c.2768C>T (p.Pro923Leu)
c.2903C>T (p.Pro968Leu)
c.2909C>T (p.Pro970Leu)
c.2825C>T (p.Pro942Leu)
c.2753C>T (p.Pro918Leu)
c.2687C>T (p.Pro896Leu)
c.2048C>T (p.Pro683Leu)
c.2666C>T (p.Pro889Leu)
9g.137813063C>ACA468161048EHMT1c.2925C>A (p.Pro975=)
c.2811C>A (p.Pro937=)
c.2832C>A (p.Pro944=)
c.2965C>A (n.2965C>A)
c.819C>A (p.Pro273=)
c.1782C>A (p.Pro594=)
c.612C>A
n.451C>A
c.2916C>A (p.Pro972=)
c.2907C>A (p.Pro969=)
c.2934C>A (p.Pro978=)
c.2931C>A (p.Pro977=)
c.2913C>A (p.Pro971=)
c.2856C>A (p.Pro952=)
c.2790C>A (p.Pro930=)
c.1356C>A (p.Pro452=)
c.708C>A (p.Pro236=)
c.495C>A (p.Pro165=)
c.2769C>A (p.Pro923=)
c.2904C>A (p.Pro968=)
c.2910C>A (p.Pro970=)
c.2826C>A (p.Pro942=)
c.2754C>A (p.Pro918=)
c.2688C>A (p.Pro896=)
c.2049C>A (p.Pro683=)
c.2667C>A (p.Pro889=)
9g.137813063C=CA1884685685EHMT1c.2925C= (p.Pro975=)
c.2811C= (p.Pro937=)
c.2832C= (p.Pro944=)
c.2965C= (n.2965C=)
c.819C= (p.Pro273=)
c.1782C= (p.Pro594=)
c.612C=
n.451C=
c.2916C= (p.Pro972=)
c.2907C= (p.Pro969=)
c.2934C= (p.Pro978=)
c.2931C= (p.Pro977=)
c.2913C= (p.Pro971=)
c.2856C= (p.Pro952=)
c.2790C= (p.Pro930=)
c.1356C= (p.Pro452=)
c.708C= (p.Pro236=)
c.495C= (p.Pro165=)
c.2769C= (p.Pro923=)
c.2904C= (p.Pro968=)
c.2910C= (p.Pro970=)
c.2826C= (p.Pro942=)
c.2754C= (p.Pro918=)
c.2688C= (p.Pro896=)
c.2049C= (p.Pro683=)
c.2667C= (p.Pro889=)
9g.137813063C>GCA468161049EHMT1c.2925C>G (p.Pro975=)
c.2811C>G (p.Pro937=)
c.2832C>G (p.Pro944=)
c.2965C>G (n.2965C>G)
c.819C>G (p.Pro273=)
c.1782C>G (p.Pro594=)
c.612C>G
n.451C>G
c.2916C>G (p.Pro972=)
c.2907C>G (p.Pro969=)
c.2934C>G (p.Pro978=)
c.2931C>G (p.Pro977=)
c.2913C>G (p.Pro971=)
c.2856C>G (p.Pro952=)
c.2790C>G (p.Pro930=)
c.1356C>G (p.Pro452=)
c.708C>G (p.Pro236=)
c.495C>G (p.Pro165=)
c.2769C>G (p.Pro923=)
c.2904C>G (p.Pro968=)
c.2910C>G (p.Pro970=)
c.2826C>G (p.Pro942=)
c.2754C>G (p.Pro918=)
c.2688C>G (p.Pro896=)
c.2049C>G (p.Pro683=)
c.2667C>G (p.Pro889=)
9g.137813063C>TCA5375104EHMT1c.2925C>T (p.Pro975=)
c.2811C>T (p.Pro937=)
c.2832C>T (p.Pro944=)
c.2965C>T (n.2965C>T)
c.819C>T (p.Pro273=)
c.1782C>T (p.Pro594=)
c.612C>T
n.451C>T
c.2916C>T (p.Pro972=)
c.2907C>T (p.Pro969=)
c.2934C>T (p.Pro978=)
c.2931C>T (p.Pro977=)
c.2913C>T (p.Pro971=)
c.2856C>T (p.Pro952=)
c.2790C>T (p.Pro930=)
c.1356C>T (p.Pro452=)
c.708C>T (p.Pro236=)
c.495C>T (p.Pro165=)
c.2769C>T (p.Pro923=)
c.2904C>T (p.Pro968=)
c.2910C>T (p.Pro970=)
c.2826C>T (p.Pro942=)
c.2754C>T (p.Pro918=)
c.2688C>T (p.Pro896=)
c.2049C>T (p.Pro683=)
c.2667C>T (p.Pro889=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813064C>ACA375793377EHMT1c.2926C>A (p.Leu976Met)
c.2812C>A (p.Leu938Met)
c.2833C>A (p.Leu945Met)
c.2966C>A (n.2966C>A)
c.820C>A (p.Leu274Met)
c.1783C>A (p.Leu595Met)
c.613C>A
n.452C>A
c.2917C>A (p.Leu973Met)
c.2908C>A (p.Leu970Met)
c.2935C>A (p.Leu979Met)
c.2932C>A (p.Leu978Met)
c.2914C>A (p.Leu972Met)
c.2857C>A (p.Leu953Met)
c.2791C>A (p.Leu931Met)
c.1357C>A (p.Leu453Met)
c.709C>A (p.Leu237Met)
c.496C>A (p.Leu166Met)
c.2770C>A (p.Leu924Met)
c.2905C>A (p.Leu969Met)
c.2911C>A (p.Leu971Met)
c.2827C>A (p.Leu943Met)
c.2755C>A (p.Leu919Met)
c.2689C>A (p.Leu897Met)
c.2050C>A (p.Leu684Met)
c.2668C>A (p.Leu890Met)
9g.137813064C>GCA375793378EHMT1c.2926C>G (p.Leu976Val)
c.2812C>G (p.Leu938Val)
c.2833C>G (p.Leu945Val)
c.2966C>G (n.2966C>G)
c.820C>G (p.Leu274Val)
c.1783C>G (p.Leu595Val)
c.613C>G
n.452C>G
c.2917C>G (p.Leu973Val)
c.2908C>G (p.Leu970Val)
c.2935C>G (p.Leu979Val)
c.2932C>G (p.Leu978Val)
c.2914C>G (p.Leu972Val)
c.2857C>G (p.Leu953Val)
c.2791C>G (p.Leu931Val)
c.1357C>G (p.Leu453Val)
c.709C>G (p.Leu237Val)
c.496C>G (p.Leu166Val)
c.2770C>G (p.Leu924Val)
c.2905C>G (p.Leu969Val)
c.2911C>G (p.Leu971Val)
c.2827C>G (p.Leu943Val)
c.2755C>G (p.Leu919Val)
c.2689C>G (p.Leu897Val)
c.2050C>G (p.Leu684Val)
c.2668C>G (p.Leu890Val)
9g.137813064C>TCA468161050EHMT1c.2926C>T (p.Leu976=)
c.2812C>T (p.Leu938=)
c.2833C>T (p.Leu945=)
c.2966C>T (n.2966C>T)
c.820C>T (p.Leu274=)
c.1783C>T (p.Leu595=)
c.613C>T
n.452C>T
c.2917C>T (p.Leu973=)
c.2908C>T (p.Leu970=)
c.2935C>T (p.Leu979=)
c.2932C>T (p.Leu978=)
c.2914C>T (p.Leu972=)
c.2857C>T (p.Leu953=)
c.2791C>T (p.Leu931=)
c.1357C>T (p.Leu453=)
c.709C>T (p.Leu237=)
c.496C>T (p.Leu166=)
c.2770C>T (p.Leu924=)
c.2905C>T (p.Leu969=)
c.2911C>T (p.Leu971=)
c.2827C>T (p.Leu943=)
c.2755C>T (p.Leu919=)
c.2689C>T (p.Leu897=)
c.2050C>T (p.Leu684=)
c.2668C>T (p.Leu890=)
9g.137813065T>ACA375793381EHMT1c.2927T>A (p.Leu976Gln)
c.2813T>A (p.Leu938Gln)
c.2834T>A (p.Leu945Gln)
c.2967T>A (n.2967T>A)
c.821T>A (p.Leu274Gln)
c.1784T>A (p.Leu595Gln)
c.614T>A
n.453T>A
c.2918T>A (p.Leu973Gln)
c.2909T>A (p.Leu970Gln)
c.2936T>A (p.Leu979Gln)
c.2933T>A (p.Leu978Gln)
c.2915T>A (p.Leu972Gln)
c.2858T>A (p.Leu953Gln)
c.2792T>A (p.Leu931Gln)
c.1358T>A (p.Leu453Gln)
c.710T>A (p.Leu237Gln)
c.497T>A (p.Leu166Gln)
c.2771T>A (p.Leu924Gln)
c.2906T>A (p.Leu969Gln)
c.2912T>A (p.Leu971Gln)
c.2828T>A (p.Leu943Gln)
c.2756T>A (p.Leu919Gln)
c.2690T>A (p.Leu897Gln)
c.2051T>A (p.Leu684Gln)
c.2669T>A (p.Leu890Gln)
9g.137813065T>CCA375793379EHMT1c.2927T>C (p.Leu976Pro)
c.2813T>C (p.Leu938Pro)
c.2834T>C (p.Leu945Pro)
c.2967T>C (n.2967T>C)
c.821T>C (p.Leu274Pro)
c.1784T>C (p.Leu595Pro)
c.614T>C
n.453T>C
c.2918T>C (p.Leu973Pro)
c.2909T>C (p.Leu970Pro)
c.2936T>C (p.Leu979Pro)
c.2933T>C (p.Leu978Pro)
c.2915T>C (p.Leu972Pro)
c.2858T>C (p.Leu953Pro)
c.2792T>C (p.Leu931Pro)
c.1358T>C (p.Leu453Pro)
c.710T>C (p.Leu237Pro)
c.497T>C (p.Leu166Pro)
c.2771T>C (p.Leu924Pro)
c.2906T>C (p.Leu969Pro)
c.2912T>C (p.Leu971Pro)
c.2828T>C (p.Leu943Pro)
c.2756T>C (p.Leu919Pro)
c.2690T>C (p.Leu897Pro)
c.2051T>C (p.Leu684Pro)
c.2669T>C (p.Leu890Pro)
 ClinVar
9g.137813065T>GCA5375105EHMT1c.2927T>G (p.Leu976Arg)
c.2813T>G (p.Leu938Arg)
c.2834T>G (p.Leu945Arg)
c.2967T>G (n.2967T>G)
c.821T>G (p.Leu274Arg)
c.1784T>G (p.Leu595Arg)
c.614T>G
n.453T>G
c.2918T>G (p.Leu973Arg)
c.2909T>G (p.Leu970Arg)
c.2936T>G (p.Leu979Arg)
c.2933T>G (p.Leu978Arg)
c.2915T>G (p.Leu972Arg)
c.2858T>G (p.Leu953Arg)
c.2792T>G (p.Leu931Arg)
c.1358T>G (p.Leu453Arg)
c.710T>G (p.Leu237Arg)
c.497T>G (p.Leu166Arg)
c.2771T>G (p.Leu924Arg)
c.2906T>G (p.Leu969Arg)
c.2912T>G (p.Leu971Arg)
c.2828T>G (p.Leu943Arg)
c.2756T>G (p.Leu919Arg)
c.2690T>G (p.Leu897Arg)
c.2051T>G (p.Leu684Arg)
c.2669T>G (p.Leu890Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813065T=CA1884685686EHMT1c.2927T= (p.Leu976=)
c.2813T= (p.Leu938=)
c.2834T= (p.Leu945=)
c.2967T= (n.2967T=)
c.821T= (p.Leu274=)
c.1784T= (p.Leu595=)
c.614T=
n.453T=
c.2918T= (p.Leu973=)
c.2909T= (p.Leu970=)
c.2936T= (p.Leu979=)
c.2933T= (p.Leu978=)
c.2915T= (p.Leu972=)
c.2858T= (p.Leu953=)
c.2792T= (p.Leu931=)
c.1358T= (p.Leu453=)
c.710T= (p.Leu237=)
c.497T= (p.Leu166=)
c.2771T= (p.Leu924=)
c.2906T= (p.Leu969=)
c.2912T= (p.Leu971=)
c.2828T= (p.Leu943=)
c.2756T= (p.Leu919=)
c.2690T= (p.Leu897=)
c.2051T= (p.Leu684=)
c.2669T= (p.Leu890=)
9g.137813066G>ACA468161051EHMT1c.2928G>A (p.Leu976=)
c.2814G>A (p.Leu938=)
c.2835G>A (p.Leu945=)
c.2968G>A (n.2968G>A)
c.822G>A (p.Leu274=)
c.1785G>A (p.Leu595=)
c.615G>A
n.454G>A
c.2919G>A (p.Leu973=)
c.2910G>A (p.Leu970=)
c.2937G>A (p.Leu979=)
c.2934G>A (p.Leu978=)
c.2916G>A (p.Leu972=)
c.2859G>A (p.Leu953=)
c.2793G>A (p.Leu931=)
c.1359G>A (p.Leu453=)
c.711G>A (p.Leu237=)
c.498G>A (p.Leu166=)
c.2772G>A (p.Leu924=)
c.2907G>A (p.Leu969=)
c.2913G>A (p.Leu971=)
c.2829G>A (p.Leu943=)
c.2757G>A (p.Leu919=)
c.2691G>A (p.Leu897=)
c.2052G>A (p.Leu684=)
c.2670G>A (p.Leu890=)
9g.137813066G>CCA468161052EHMT1c.2928G>C (p.Leu976=)
c.2814G>C (p.Leu938=)
c.2835G>C (p.Leu945=)
c.2968G>C (n.2968G>C)
c.822G>C (p.Leu274=)
c.1785G>C (p.Leu595=)
c.615G>C
n.454G>C
c.2919G>C (p.Leu973=)
c.2910G>C (p.Leu970=)
c.2937G>C (p.Leu979=)
c.2934G>C (p.Leu978=)
c.2916G>C (p.Leu972=)
c.2859G>C (p.Leu953=)
c.2793G>C (p.Leu931=)
c.1359G>C (p.Leu453=)
c.711G>C (p.Leu237=)
c.498G>C (p.Leu166=)
c.2772G>C (p.Leu924=)
c.2907G>C (p.Leu969=)
c.2913G>C (p.Leu971=)
c.2829G>C (p.Leu943=)
c.2757G>C (p.Leu919=)
c.2691G>C (p.Leu897=)
c.2052G>C (p.Leu684=)
c.2670G>C (p.Leu890=)
9g.137813066G>TCA468161053EHMT1c.2928G>T (p.Leu976=)
c.2814G>T (p.Leu938=)
c.2835G>T (p.Leu945=)
c.2968G>T (n.2968G>T)
c.822G>T (p.Leu274=)
c.1785G>T (p.Leu595=)
c.615G>T
n.454G>T
c.2919G>T (p.Leu973=)
c.2910G>T (p.Leu970=)
c.2937G>T (p.Leu979=)
c.2934G>T (p.Leu978=)
c.2916G>T (p.Leu972=)
c.2859G>T (p.Leu953=)
c.2793G>T (p.Leu931=)
c.1359G>T (p.Leu453=)
c.711G>T (p.Leu237=)
c.498G>T (p.Leu166=)
c.2772G>T (p.Leu924=)
c.2907G>T (p.Leu969=)
c.2913G>T (p.Leu971=)
c.2829G>T (p.Leu943=)
c.2757G>T (p.Leu919=)
c.2691G>T (p.Leu897=)
c.2052G>T (p.Leu684=)
c.2670G>T (p.Leu890=)
9g.137813067C>ACA375793384EHMT1c.2929C>A (p.Gln977Lys)
c.2815C>A (p.Gln939Lys)
c.2836C>A (p.Gln946Lys)
c.2969C>A (n.2969C>A)
c.823C>A (p.Gln275Lys)
c.1786C>A (p.Gln596Lys)
c.616C>A
n.455C>A
c.2920C>A (p.Gln974Lys)
c.2911C>A (p.Gln971Lys)
c.2938C>A (p.Gln980Lys)
c.2935C>A (p.Gln979Lys)
c.2917C>A (p.Gln973Lys)
c.2860C>A (p.Gln954Lys)
c.2794C>A (p.Gln932Lys)
c.1360C>A (p.Gln454Lys)
c.712C>A (p.Gln238Lys)
c.499C>A (p.Gln167Lys)
c.2773C>A (p.Gln925Lys)
c.2908C>A (p.Gln970Lys)
c.2914C>A (p.Gln972Lys)
c.2830C>A (p.Gln944Lys)
c.2758C>A (p.Gln920Lys)
c.2692C>A (p.Gln898Lys)
c.2053C>A (p.Gln685Lys)
c.2671C>A (p.Gln891Lys)
9g.137813067C>GCA375793387EHMT1c.2929C>G (p.Gln977Glu)
c.2815C>G (p.Gln939Glu)
c.2836C>G (p.Gln946Glu)
c.2969C>G (n.2969C>G)
c.823C>G (p.Gln275Glu)
c.1786C>G (p.Gln596Glu)
c.616C>G
n.455C>G
c.2920C>G (p.Gln974Glu)
c.2911C>G (p.Gln971Glu)
c.2938C>G (p.Gln980Glu)
c.2935C>G (p.Gln979Glu)
c.2917C>G (p.Gln973Glu)
c.2860C>G (p.Gln954Glu)
c.2794C>G (p.Gln932Glu)
c.1360C>G (p.Gln454Glu)
c.712C>G (p.Gln238Glu)
c.499C>G (p.Gln167Glu)
c.2773C>G (p.Gln925Glu)
c.2908C>G (p.Gln970Glu)
c.2914C>G (p.Gln972Glu)
c.2830C>G (p.Gln944Glu)
c.2758C>G (p.Gln920Glu)
c.2692C>G (p.Gln898Glu)
c.2053C>G (p.Gln685Glu)
c.2671C>G (p.Gln891Glu)
9g.137813067C>TCA375793388EHMT1c.2929C>T (p.Gln977Ter)
c.2815C>T (p.Gln939Ter)
c.2836C>T (p.Gln946Ter)
c.2969C>T (n.2969C>T)
c.823C>T (p.Gln275Ter)
c.1786C>T (p.Gln596Ter)
c.616C>T
n.455C>T
c.2920C>T (p.Gln974Ter)
c.2911C>T (p.Gln971Ter)
c.2938C>T (p.Gln980Ter)
c.2935C>T (p.Gln979Ter)
c.2917C>T (p.Gln973Ter)
c.2860C>T (p.Gln954Ter)
c.2794C>T (p.Gln932Ter)
c.1360C>T (p.Gln454Ter)
c.712C>T (p.Gln238Ter)
c.499C>T (p.Gln167Ter)
c.2773C>T (p.Gln925Ter)
c.2908C>T (p.Gln970Ter)
c.2914C>T (p.Gln972Ter)
c.2830C>T (p.Gln944Ter)
c.2758C>T (p.Gln920Ter)
c.2692C>T (p.Gln898Ter)
c.2053C>T (p.Gln685Ter)
c.2671C>T (p.Gln891Ter)
 ClinVar dbSNP
9g.137813068A=CA1884685687EHMT1c.2930A= (p.Gln977=)
c.2816A= (p.Gln939=)
c.2837A= (p.Gln946=)
c.2970A= (n.2970A=)
c.824A= (p.Gln275=)
c.1787A= (p.Gln596=)
c.617A=
n.456A=
c.2921A= (p.Gln974=)
c.2912A= (p.Gln971=)
c.2939A= (p.Gln980=)
c.2936A= (p.Gln979=)
c.2918A= (p.Gln973=)
c.2861A= (p.Gln954=)
c.2795A= (p.Gln932=)
c.1361A= (p.Gln454=)
c.713A= (p.Gln238=)
c.500A= (p.Gln167=)
c.2774A= (p.Gln925=)
c.2909A= (p.Gln970=)
c.2915A= (p.Gln972=)
c.2831A= (p.Gln944=)
c.2759A= (p.Gln920=)
c.2693A= (p.Gln898=)
c.2054A= (p.Gln685=)
c.2672A= (p.Gln891=)
9g.137813068A>CCA375793391EHMT1c.2930A>C (p.Gln977Pro)
c.2816A>C (p.Gln939Pro)
c.2837A>C (p.Gln946Pro)
c.2970A>C (n.2970A>C)
c.824A>C (p.Gln275Pro)
c.1787A>C (p.Gln596Pro)
c.617A>C
n.456A>C
c.2921A>C (p.Gln974Pro)
c.2912A>C (p.Gln971Pro)
c.2939A>C (p.Gln980Pro)
c.2936A>C (p.Gln979Pro)
c.2918A>C (p.Gln973Pro)
c.2861A>C (p.Gln954Pro)
c.2795A>C (p.Gln932Pro)
c.1361A>C (p.Gln454Pro)
c.713A>C (p.Gln238Pro)
c.500A>C (p.Gln167Pro)
c.2774A>C (p.Gln925Pro)
c.2909A>C (p.Gln970Pro)
c.2915A>C (p.Gln972Pro)
c.2831A>C (p.Gln944Pro)
c.2759A>C (p.Gln920Pro)
c.2693A>C (p.Gln898Pro)
c.2054A>C (p.Gln685Pro)
c.2672A>C (p.Gln891Pro)
9g.137813068A>GCA375793393EHMT1c.2930A>G (p.Gln977Arg)
c.2816A>G (p.Gln939Arg)
c.2837A>G (p.Gln946Arg)
c.2970A>G (n.2970A>G)
c.824A>G (p.Gln275Arg)
c.1787A>G (p.Gln596Arg)
c.617A>G
n.456A>G
c.2921A>G (p.Gln974Arg)
c.2912A>G (p.Gln971Arg)
c.2939A>G (p.Gln980Arg)
c.2936A>G (p.Gln979Arg)
c.2918A>G (p.Gln973Arg)
c.2861A>G (p.Gln954Arg)
c.2795A>G (p.Gln932Arg)
c.1361A>G (p.Gln454Arg)
c.713A>G (p.Gln238Arg)
c.500A>G (p.Gln167Arg)
c.2774A>G (p.Gln925Arg)
c.2909A>G (p.Gln970Arg)
c.2915A>G (p.Gln972Arg)
c.2831A>G (p.Gln944Arg)
c.2759A>G (p.Gln920Arg)
c.2693A>G (p.Gln898Arg)
c.2054A>G (p.Gln685Arg)
c.2672A>G (p.Gln891Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813068A>TCA375793395EHMT1c.2930A>T (p.Gln977Leu)
c.2816A>T (p.Gln939Leu)
c.2837A>T (p.Gln946Leu)
c.2970A>T (n.2970A>T)
c.824A>T (p.Gln275Leu)
c.1787A>T (p.Gln596Leu)
c.617A>T
n.456A>T
c.2921A>T (p.Gln974Leu)
c.2912A>T (p.Gln971Leu)
c.2939A>T (p.Gln980Leu)
c.2936A>T (p.Gln979Leu)
c.2918A>T (p.Gln973Leu)
c.2861A>T (p.Gln954Leu)
c.2795A>T (p.Gln932Leu)
c.1361A>T (p.Gln454Leu)
c.713A>T (p.Gln238Leu)
c.500A>T (p.Gln167Leu)
c.2774A>T (p.Gln925Leu)
c.2909A>T (p.Gln970Leu)
c.2915A>T (p.Gln972Leu)
c.2831A>T (p.Gln944Leu)
c.2759A>T (p.Gln920Leu)
c.2693A>T (p.Gln898Leu)
c.2054A>T (p.Gln685Leu)
c.2672A>T (p.Gln891Leu)
9g.137813069G>ACA468161054EHMT1c.2931G>A (p.Gln977=)
c.2817G>A (p.Gln939=)
c.2838G>A (p.Gln946=)
c.2971G>A (n.2971G>A)
c.825G>A (p.Gln275=)
c.1788G>A (p.Gln596=)
c.618G>A
n.457G>A
c.2922G>A (p.Gln974=)
c.2913G>A (p.Gln971=)
c.2940G>A (p.Gln980=)
c.2937G>A (p.Gln979=)
c.2919G>A (p.Gln973=)
c.2862G>A (p.Gln954=)
c.2796G>A (p.Gln932=)
c.1362G>A (p.Gln454=)
c.714G>A (p.Gln238=)
c.501G>A (p.Gln167=)
c.2775G>A (p.Gln925=)
c.2910G>A (p.Gln970=)
c.2916G>A (p.Gln972=)
c.2832G>A (p.Gln944=)
c.2760G>A (p.Gln920=)
c.2694G>A (p.Gln898=)
c.2055G>A (p.Gln685=)
c.2673G>A (p.Gln891=)
 ClinVar dbSNP gnomAD v4
9g.137813069G>CCA375793396EHMT1c.2931G>C (p.Gln977His)
c.2817G>C (p.Gln939His)
c.2838G>C (p.Gln946His)
c.2971G>C (n.2971G>C)
c.825G>C (p.Gln275His)
c.1788G>C (p.Gln596His)
c.618G>C
n.457G>C
c.2922G>C (p.Gln974His)
c.2913G>C (p.Gln971His)
c.2940G>C (p.Gln980His)
c.2937G>C (p.Gln979His)
c.2919G>C (p.Gln973His)
c.2862G>C (p.Gln954His)
c.2796G>C (p.Gln932His)
c.1362G>C (p.Gln454His)
c.714G>C (p.Gln238His)
c.501G>C (p.Gln167His)
c.2775G>C (p.Gln925His)
c.2910G>C (p.Gln970His)
c.2916G>C (p.Gln972His)
c.2832G>C (p.Gln944His)
c.2760G>C (p.Gln920His)
c.2694G>C (p.Gln898His)
c.2055G>C (p.Gln685His)
c.2673G>C (p.Gln891His)
 dbSNP gnomAD v2 gnomAD v4
9g.137813069G=CA1884685688EHMT1c.2931G= (p.Gln977=)
c.2817G= (p.Gln939=)
c.2838G= (p.Gln946=)
c.2971G= (n.2971G=)
c.825G= (p.Gln275=)
c.1788G= (p.Gln596=)
c.618G=
n.457G=
c.2922G= (p.Gln974=)
c.2913G= (p.Gln971=)
c.2940G= (p.Gln980=)
c.2937G= (p.Gln979=)
c.2919G= (p.Gln973=)
c.2862G= (p.Gln954=)
c.2796G= (p.Gln932=)
c.1362G= (p.Gln454=)
c.714G= (p.Gln238=)
c.501G= (p.Gln167=)
c.2775G= (p.Gln925=)
c.2910G= (p.Gln970=)
c.2916G= (p.Gln972=)
c.2832G= (p.Gln944=)
c.2760G= (p.Gln920=)
c.2694G= (p.Gln898=)
c.2055G= (p.Gln685=)
c.2673G= (p.Gln891=)
9g.137813069G>TCA375793398EHMT1c.2931G>T (p.Gln977His)
c.2817G>T (p.Gln939His)
c.2838G>T (p.Gln946His)
c.2971G>T (n.2971G>T)
c.825G>T (p.Gln275His)
c.1788G>T (p.Gln596His)
c.618G>T
n.457G>T
c.2922G>T (p.Gln974His)
c.2913G>T (p.Gln971His)
c.2940G>T (p.Gln980His)
c.2937G>T (p.Gln979His)
c.2919G>T (p.Gln973His)
c.2862G>T (p.Gln954His)
c.2796G>T (p.Gln932His)
c.1362G>T (p.Gln454His)
c.714G>T (p.Gln238His)
c.501G>T (p.Gln167His)
c.2775G>T (p.Gln925His)
c.2910G>T (p.Gln970His)
c.2916G>T (p.Gln972His)
c.2832G>T (p.Gln944His)
c.2760G>T (p.Gln920His)
c.2694G>T (p.Gln898His)
c.2055G>T (p.Gln685His)
c.2673G>T (p.Gln891His)
9g.137813070T>ACA375793400EHMT1c.2932T>A (p.Cys978Ser)
c.2818T>A (p.Cys940Ser)
c.2839T>A (p.Cys947Ser)
c.2972T>A (n.2972T>A)
c.826T>A (p.Cys276Ser)
c.1789T>A (p.Cys597Ser)
c.619T>A
n.458T>A
c.2923T>A (p.Cys975Ser)
c.2914T>A (p.Cys972Ser)
c.2941T>A (p.Cys981Ser)
c.2938T>A (p.Cys980Ser)
c.2920T>A (p.Cys974Ser)
c.2863T>A (p.Cys955Ser)
c.2797T>A (p.Cys933Ser)
c.1363T>A (p.Cys455Ser)
c.715T>A (p.Cys239Ser)
c.502T>A (p.Cys168Ser)
c.2776T>A (p.Cys926Ser)
c.2911T>A (p.Cys971Ser)
c.2917T>A (p.Cys973Ser)
c.2833T>A (p.Cys945Ser)
c.2761T>A (p.Cys921Ser)
c.2695T>A (p.Cys899Ser)
c.2056T>A (p.Cys686Ser)
c.2674T>A (p.Cys892Ser)
9g.137813070T>CCA375793402EHMT1c.2932T>C (p.Cys978Arg)
c.2818T>C (p.Cys940Arg)
c.2839T>C (p.Cys947Arg)
c.2972T>C (n.2972T>C)
c.826T>C (p.Cys276Arg)
c.1789T>C (p.Cys597Arg)
c.619T>C
n.458T>C
c.2923T>C (p.Cys975Arg)
c.2914T>C (p.Cys972Arg)
c.2941T>C (p.Cys981Arg)
c.2938T>C (p.Cys980Arg)
c.2920T>C (p.Cys974Arg)
c.2863T>C (p.Cys955Arg)
c.2797T>C (p.Cys933Arg)
c.1363T>C (p.Cys455Arg)
c.715T>C (p.Cys239Arg)
c.502T>C (p.Cys168Arg)
c.2776T>C (p.Cys926Arg)
c.2911T>C (p.Cys971Arg)
c.2917T>C (p.Cys973Arg)
c.2833T>C (p.Cys945Arg)
c.2761T>C (p.Cys921Arg)
c.2695T>C (p.Cys899Arg)
c.2056T>C (p.Cys686Arg)
c.2674T>C (p.Cys892Arg)
9g.137813070T>GCA375793404EHMT1c.2932T>G (p.Cys978Gly)
c.2818T>G (p.Cys940Gly)
c.2839T>G (p.Cys947Gly)
c.2972T>G (n.2972T>G)
c.826T>G (p.Cys276Gly)
c.1789T>G (p.Cys597Gly)
c.619T>G
n.458T>G
c.2923T>G (p.Cys975Gly)
c.2914T>G (p.Cys972Gly)
c.2941T>G (p.Cys981Gly)
c.2938T>G (p.Cys980Gly)
c.2920T>G (p.Cys974Gly)
c.2863T>G (p.Cys955Gly)
c.2797T>G (p.Cys933Gly)
c.1363T>G (p.Cys455Gly)
c.715T>G (p.Cys239Gly)
c.502T>G (p.Cys168Gly)
c.2776T>G (p.Cys926Gly)
c.2911T>G (p.Cys971Gly)
c.2917T>G (p.Cys973Gly)
c.2833T>G (p.Cys945Gly)
c.2761T>G (p.Cys921Gly)
c.2695T>G (p.Cys899Gly)
c.2056T>G (p.Cys686Gly)
c.2674T>G (p.Cys892Gly)
9g.137813071G>ACA375793406EHMT1c.2933G>A (p.Cys978Tyr)
c.2819G>A (p.Cys940Tyr)
c.2840G>A (p.Cys947Tyr)
c.2973G>A (n.2973G>A)
c.827G>A (p.Cys276Tyr)
c.1790G>A (p.Cys597Tyr)
c.620G>A
n.459G>A
c.2924G>A (p.Cys975Tyr)
c.2915G>A (p.Cys972Tyr)
c.2942G>A (p.Cys981Tyr)
c.2939G>A (p.Cys980Tyr)
c.2921G>A (p.Cys974Tyr)
c.2864G>A (p.Cys955Tyr)
c.2798G>A (p.Cys933Tyr)
c.1364G>A (p.Cys455Tyr)
c.716G>A (p.Cys239Tyr)
c.503G>A (p.Cys168Tyr)
c.2777G>A (p.Cys926Tyr)
c.2912G>A (p.Cys971Tyr)
c.2918G>A (p.Cys973Tyr)
c.2834G>A (p.Cys945Tyr)
c.2762G>A (p.Cys921Tyr)
c.2696G>A (p.Cys899Tyr)
c.2057G>A (p.Cys686Tyr)
c.2675G>A (p.Cys892Tyr)
9g.137813071G>CCA375793411EHMT1c.2933G>C (p.Cys978Ser)
c.2819G>C (p.Cys940Ser)
c.2840G>C (p.Cys947Ser)
c.2973G>C (n.2973G>C)
c.827G>C (p.Cys276Ser)
c.1790G>C (p.Cys597Ser)
c.620G>C
n.459G>C
c.2924G>C (p.Cys975Ser)
c.2915G>C (p.Cys972Ser)
c.2942G>C (p.Cys981Ser)
c.2939G>C (p.Cys980Ser)
c.2921G>C (p.Cys974Ser)
c.2864G>C (p.Cys955Ser)
c.2798G>C (p.Cys933Ser)
c.1364G>C (p.Cys455Ser)
c.716G>C (p.Cys239Ser)
c.503G>C (p.Cys168Ser)
c.2777G>C (p.Cys926Ser)
c.2912G>C (p.Cys971Ser)
c.2918G>C (p.Cys973Ser)
c.2834G>C (p.Cys945Ser)
c.2762G>C (p.Cys921Ser)
c.2696G>C (p.Cys899Ser)
c.2057G>C (p.Cys686Ser)
c.2675G>C (p.Cys892Ser)
9g.137813071G>TCA375793407EHMT1c.2933G>T (p.Cys978Phe)
c.2819G>T (p.Cys940Phe)
c.2840G>T (p.Cys947Phe)
c.2973G>T (n.2973G>T)
c.827G>T (p.Cys276Phe)
c.1790G>T (p.Cys597Phe)
c.620G>T
n.459G>T
c.2924G>T (p.Cys975Phe)
c.2915G>T (p.Cys972Phe)
c.2942G>T (p.Cys981Phe)
c.2939G>T (p.Cys980Phe)
c.2921G>T (p.Cys974Phe)
c.2864G>T (p.Cys955Phe)
c.2798G>T (p.Cys933Phe)
c.1364G>T (p.Cys455Phe)
c.716G>T (p.Cys239Phe)
c.503G>T (p.Cys168Phe)
c.2777G>T (p.Cys926Phe)
c.2912G>T (p.Cys971Phe)
c.2918G>T (p.Cys973Phe)
c.2834G>T (p.Cys945Phe)
c.2762G>T (p.Cys921Phe)
c.2696G>T (p.Cys899Phe)
c.2057G>T (p.Cys686Phe)
c.2675G>T (p.Cys892Phe)
9g.137813072T>ACA375793413EHMT1c.2934T>A (p.Cys978Ter)
c.2820T>A (p.Cys940Ter)
c.2841T>A (p.Cys947Ter)
c.2974T>A (n.2974T>A)
c.828T>A (p.Cys276Ter)
c.1791T>A (p.Cys597Ter)
c.621T>A
n.460T>A
c.2925T>A (p.Cys975Ter)
c.2916T>A (p.Cys972Ter)
c.2943T>A (p.Cys981Ter)
c.2940T>A (p.Cys980Ter)
c.2922T>A (p.Cys974Ter)
c.2865T>A (p.Cys955Ter)
c.2799T>A (p.Cys933Ter)
c.1365T>A (p.Cys455Ter)
c.717T>A (p.Cys239Ter)
c.504T>A (p.Cys168Ter)
c.2778T>A (p.Cys926Ter)
c.2913T>A (p.Cys971Ter)
c.2919T>A (p.Cys973Ter)
c.2835T>A (p.Cys945Ter)
c.2763T>A (p.Cys921Ter)
c.2697T>A (p.Cys899Ter)
c.2058T>A (p.Cys686Ter)
c.2676T>A (p.Cys892Ter)
9g.137813072T>CCA468161055EHMT1c.2934T>C (p.Cys978=)
c.2820T>C (p.Cys940=)
c.2841T>C (p.Cys947=)
c.2974T>C (n.2974T>C)
c.828T>C (p.Cys276=)
c.1791T>C (p.Cys597=)
c.621T>C
n.460T>C
c.2925T>C (p.Cys975=)
c.2916T>C (p.Cys972=)
c.2943T>C (p.Cys981=)
c.2940T>C (p.Cys980=)
c.2922T>C (p.Cys974=)
c.2865T>C (p.Cys955=)
c.2799T>C (p.Cys933=)
c.1365T>C (p.Cys455=)
c.717T>C (p.Cys239=)
c.504T>C (p.Cys168=)
c.2778T>C (p.Cys926=)
c.2913T>C (p.Cys971=)
c.2919T>C (p.Cys973=)
c.2835T>C (p.Cys945=)
c.2763T>C (p.Cys921=)
c.2697T>C (p.Cys899=)
c.2058T>C (p.Cys686=)
c.2676T>C (p.Cys892=)
9g.137813072T>GCA375793415EHMT1c.2934T>G (p.Cys978Trp)
c.2820T>G (p.Cys940Trp)
c.2841T>G (p.Cys947Trp)
c.2974T>G (n.2974T>G)
c.828T>G (p.Cys276Trp)
c.1791T>G (p.Cys597Trp)
c.621T>G
n.460T>G
c.2925T>G (p.Cys975Trp)
c.2916T>G (p.Cys972Trp)
c.2943T>G (p.Cys981Trp)
c.2940T>G (p.Cys980Trp)
c.2922T>G (p.Cys974Trp)
c.2865T>G (p.Cys955Trp)
c.2799T>G (p.Cys933Trp)
c.1365T>G (p.Cys455Trp)
c.717T>G (p.Cys239Trp)
c.504T>G (p.Cys168Trp)
c.2778T>G (p.Cys926Trp)
c.2913T>G (p.Cys971Trp)
c.2919T>G (p.Cys973Trp)
c.2835T>G (p.Cys945Trp)
c.2763T>G (p.Cys921Trp)
c.2697T>G (p.Cys899Trp)
c.2058T>G (p.Cys686Trp)
c.2676T>G (p.Cys892Trp)
9g.137813073G>ACA375793417EHMT1c.2935G>A (p.Ala979Thr)
c.2821G>A (p.Ala941Thr)
c.2842G>A (p.Ala948Thr)
c.2975G>A (n.2975G>A)
c.829G>A (p.Ala277Thr)
c.1792G>A (p.Ala598Thr)
c.622G>A
n.461G>A
c.2926G>A (p.Ala976Thr)
c.2917G>A (p.Ala973Thr)
c.2944G>A (p.Ala982Thr)
c.2941G>A (p.Ala981Thr)
c.2923G>A (p.Ala975Thr)
c.2866G>A (p.Ala956Thr)
c.2800G>A (p.Ala934Thr)
c.1366G>A (p.Ala456Thr)
c.718G>A (p.Ala240Thr)
c.505G>A (p.Ala169Thr)
c.2779G>A (p.Ala927Thr)
c.2914G>A (p.Ala972Thr)
c.2920G>A (p.Ala974Thr)
c.2836G>A (p.Ala946Thr)
c.2764G>A (p.Ala922Thr)
c.2698G>A (p.Ala900Thr)
c.2059G>A (p.Ala687Thr)
c.2677G>A (p.Ala893Thr)
 gnomAD v4
9g.137813073G>CCA375793419EHMT1c.2935G>C (p.Ala979Pro)
c.2821G>C (p.Ala941Pro)
c.2842G>C (p.Ala948Pro)
c.2975G>C (n.2975G>C)
c.829G>C (p.Ala277Pro)
c.1792G>C (p.Ala598Pro)
c.622G>C
n.461G>C
c.2926G>C (p.Ala976Pro)
c.2917G>C (p.Ala973Pro)
c.2944G>C (p.Ala982Pro)
c.2941G>C (p.Ala981Pro)
c.2923G>C (p.Ala975Pro)
c.2866G>C (p.Ala956Pro)
c.2800G>C (p.Ala934Pro)
c.1366G>C (p.Ala456Pro)
c.718G>C (p.Ala240Pro)
c.505G>C (p.Ala169Pro)
c.2779G>C (p.Ala927Pro)
c.2914G>C (p.Ala972Pro)
c.2920G>C (p.Ala974Pro)
c.2836G>C (p.Ala946Pro)
c.2764G>C (p.Ala922Pro)
c.2698G>C (p.Ala900Pro)
c.2059G>C (p.Ala687Pro)
c.2677G>C (p.Ala893Pro)
9g.137813073G>TCA375793420EHMT1c.2935G>T (p.Ala979Ser)
c.2821G>T (p.Ala941Ser)
c.2842G>T (p.Ala948Ser)
c.2975G>T (n.2975G>T)
c.829G>T (p.Ala277Ser)
c.1792G>T (p.Ala598Ser)
c.622G>T
n.461G>T
c.2926G>T (p.Ala976Ser)
c.2917G>T (p.Ala973Ser)
c.2944G>T (p.Ala982Ser)
c.2941G>T (p.Ala981Ser)
c.2923G>T (p.Ala975Ser)
c.2866G>T (p.Ala956Ser)
c.2800G>T (p.Ala934Ser)
c.1366G>T (p.Ala456Ser)
c.718G>T (p.Ala240Ser)
c.505G>T (p.Ala169Ser)
c.2779G>T (p.Ala927Ser)
c.2914G>T (p.Ala972Ser)
c.2920G>T (p.Ala974Ser)
c.2836G>T (p.Ala946Ser)
c.2764G>T (p.Ala922Ser)
c.2698G>T (p.Ala900Ser)
c.2059G>T (p.Ala687Ser)
c.2677G>T (p.Ala893Ser)
9g.137813074C>ACA375793422EHMT1c.2936C>A (p.Ala979Glu)
c.2822C>A (p.Ala941Glu)
c.2843C>A (p.Ala948Glu)
c.2976C>A (n.2976C>A)
c.830C>A (p.Ala277Glu)
c.1793C>A (p.Ala598Glu)
c.623C>A
n.462C>A
c.2927C>A (p.Ala976Glu)
c.2918C>A (p.Ala973Glu)
c.2945C>A (p.Ala982Glu)
c.2942C>A (p.Ala981Glu)
c.2924C>A (p.Ala975Glu)
c.2867C>A (p.Ala956Glu)
c.2801C>A (p.Ala934Glu)
c.1367C>A (p.Ala456Glu)
c.719C>A (p.Ala240Glu)
c.506C>A (p.Ala169Glu)
c.2780C>A (p.Ala927Glu)
c.2915C>A (p.Ala972Glu)
c.2921C>A (p.Ala974Glu)
c.2837C>A (p.Ala946Glu)
c.2765C>A (p.Ala922Glu)
c.2699C>A (p.Ala900Glu)
c.2060C>A (p.Ala687Glu)
c.2678C>A (p.Ala893Glu)
9g.137813074C=CA1884685689EHMT1c.2936C= (p.Ala979=)
c.2822C= (p.Ala941=)
c.2843C= (p.Ala948=)
c.2976C= (n.2976C=)
c.830C= (p.Ala277=)
c.1793C= (p.Ala598=)
c.623C=
n.462C=
c.2927C= (p.Ala976=)
c.2918C= (p.Ala973=)
c.2945C= (p.Ala982=)
c.2942C= (p.Ala981=)
c.2924C= (p.Ala975=)
c.2867C= (p.Ala956=)
c.2801C= (p.Ala934=)
c.1367C= (p.Ala456=)
c.719C= (p.Ala240=)
c.506C= (p.Ala169=)
c.2780C= (p.Ala927=)
c.2915C= (p.Ala972=)
c.2921C= (p.Ala974=)
c.2837C= (p.Ala946=)
c.2765C= (p.Ala922=)
c.2699C= (p.Ala900=)
c.2060C= (p.Ala687=)
c.2678C= (p.Ala893=)
9g.137813074C>GCA5375106EHMT1c.2936C>G (p.Ala979Gly)
c.2822C>G (p.Ala941Gly)
c.2843C>G (p.Ala948Gly)
c.2976C>G (n.2976C>G)
c.830C>G (p.Ala277Gly)
c.1793C>G (p.Ala598Gly)
c.623C>G
n.462C>G
c.2927C>G (p.Ala976Gly)
c.2918C>G (p.Ala973Gly)
c.2945C>G (p.Ala982Gly)
c.2942C>G (p.Ala981Gly)
c.2924C>G (p.Ala975Gly)
c.2867C>G (p.Ala956Gly)
c.2801C>G (p.Ala934Gly)
c.1367C>G (p.Ala456Gly)
c.719C>G (p.Ala240Gly)
c.506C>G (p.Ala169Gly)
c.2780C>G (p.Ala927Gly)
c.2915C>G (p.Ala972Gly)
c.2921C>G (p.Ala974Gly)
c.2837C>G (p.Ala946Gly)
c.2765C>G (p.Ala922Gly)
c.2699C>G (p.Ala900Gly)
c.2060C>G (p.Ala687Gly)
c.2678C>G (p.Ala893Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813074C>TCA5375107EHMT1c.2936C>T (p.Ala979Val)
c.2822C>T (p.Ala941Val)
c.2843C>T (p.Ala948Val)
c.2976C>T (n.2976C>T)
c.830C>T (p.Ala277Val)
c.1793C>T (p.Ala598Val)
c.623C>T
n.462C>T
c.2927C>T (p.Ala976Val)
c.2918C>T (p.Ala973Val)
c.2945C>T (p.Ala982Val)
c.2942C>T (p.Ala981Val)
c.2924C>T (p.Ala975Val)
c.2867C>T (p.Ala956Val)
c.2801C>T (p.Ala934Val)
c.1367C>T (p.Ala456Val)
c.719C>T (p.Ala240Val)
c.506C>T (p.Ala169Val)
c.2780C>T (p.Ala927Val)
c.2915C>T (p.Ala972Val)
c.2921C>T (p.Ala974Val)
c.2837C>T (p.Ala946Val)
c.2765C>T (p.Ala922Val)
c.2699C>T (p.Ala900Val)
c.2060C>T (p.Ala687Val)
c.2678C>T (p.Ala893Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813075G>ACA5375108EHMT1c.2937G>A (p.Ala979=)
c.2823G>A (p.Ala941=)
c.2844G>A (p.Ala948=)
c.2977G>A (n.2977G>A)
c.831G>A (p.Ala277=)
c.1794G>A (p.Ala598=)
c.624G>A
n.463G>A
c.2928G>A (p.Ala976=)
c.2919G>A (p.Ala973=)
c.2946G>A (p.Ala982=)
c.2943G>A (p.Ala981=)
c.2925G>A (p.Ala975=)
c.2868G>A (p.Ala956=)
c.2802G>A (p.Ala934=)
c.1368G>A (p.Ala456=)
c.720G>A (p.Ala240=)
c.507G>A (p.Ala169=)
c.2781G>A (p.Ala927=)
c.2916G>A (p.Ala972=)
c.2922G>A (p.Ala974=)
c.2838G>A (p.Ala946=)
c.2766G>A (p.Ala922=)
c.2700G>A (p.Ala900=)
c.2061G>A (p.Ala687=)
c.2679G>A (p.Ala893=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813075G>CCA468161056EHMT1c.2937G>C (p.Ala979=)
c.2823G>C (p.Ala941=)
c.2844G>C (p.Ala948=)
c.2977G>C (n.2977G>C)
c.831G>C (p.Ala277=)
c.1794G>C (p.Ala598=)
c.624G>C
n.463G>C
c.2928G>C (p.Ala976=)
c.2919G>C (p.Ala973=)
c.2946G>C (p.Ala982=)
c.2943G>C (p.Ala981=)
c.2925G>C (p.Ala975=)
c.2868G>C (p.Ala956=)
c.2802G>C (p.Ala934=)
c.1368G>C (p.Ala456=)
c.720G>C (p.Ala240=)
c.507G>C (p.Ala169=)
c.2781G>C (p.Ala927=)
c.2916G>C (p.Ala972=)
c.2922G>C (p.Ala974=)
c.2838G>C (p.Ala946=)
c.2766G>C (p.Ala922=)
c.2700G>C (p.Ala900=)
c.2061G>C (p.Ala687=)
c.2679G>C (p.Ala893=)
9g.137813075G=CA1884685690EHMT1c.2937G= (p.Ala979=)
c.2823G= (p.Ala941=)
c.2844G= (p.Ala948=)
c.2977G= (n.2977G=)
c.831G= (p.Ala277=)
c.1794G= (p.Ala598=)
c.624G=
n.463G=
c.2928G= (p.Ala976=)
c.2919G= (p.Ala973=)
c.2946G= (p.Ala982=)
c.2943G= (p.Ala981=)
c.2925G= (p.Ala975=)
c.2868G= (p.Ala956=)
c.2802G= (p.Ala934=)
c.1368G= (p.Ala456=)
c.720G= (p.Ala240=)
c.507G= (p.Ala169=)
c.2781G= (p.Ala927=)
c.2916G= (p.Ala972=)
c.2922G= (p.Ala974=)
c.2838G= (p.Ala946=)
c.2766G= (p.Ala922=)
c.2700G= (p.Ala900=)
c.2061G= (p.Ala687=)
c.2679G= (p.Ala893=)
9g.137813075G>TCA468161057EHMT1c.2937G>T (p.Ala979=)
c.2823G>T (p.Ala941=)
c.2844G>T (p.Ala948=)
c.2977G>T (n.2977G>T)
c.831G>T (p.Ala277=)
c.1794G>T (p.Ala598=)
c.624G>T
n.463G>T
c.2928G>T (p.Ala976=)
c.2919G>T (p.Ala973=)
c.2946G>T (p.Ala982=)
c.2943G>T (p.Ala981=)
c.2925G>T (p.Ala975=)
c.2868G>T (p.Ala956=)
c.2802G>T (p.Ala934=)
c.1368G>T (p.Ala456=)
c.720G>T (p.Ala240=)
c.507G>T (p.Ala169=)
c.2781G>T (p.Ala927=)
c.2916G>T (p.Ala972=)
c.2922G>T (p.Ala974=)
c.2838G>T (p.Ala946=)
c.2766G>T (p.Ala922=)
c.2700G>T (p.Ala900=)
c.2061G>T (p.Ala687=)
c.2679G>T (p.Ala893=)
9g.137813076A>CCA375793425EHMT1c.2938A>C (p.Ser980Arg)
c.2824A>C (p.Ser942Arg)
c.2845A>C (p.Ser949Arg)
c.2978A>C (n.2978A>C)
c.832A>C (p.Ser278Arg)
c.1795A>C (p.Ser599Arg)
c.625A>C
n.464A>C
c.2929A>C (p.Ser977Arg)
c.2920A>C (p.Ser974Arg)
c.2947A>C (p.Ser983Arg)
c.2944A>C (p.Ser982Arg)
c.2926A>C (p.Ser976Arg)
c.2869A>C (p.Ser957Arg)
c.2803A>C (p.Ser935Arg)
c.1369A>C (p.Ser457Arg)
c.721A>C (p.Ser241Arg)
c.508A>C (p.Ser170Arg)
c.2782A>C (p.Ser928Arg)
c.2917A>C (p.Ser973Arg)
c.2923A>C (p.Ser975Arg)
c.2839A>C (p.Ser947Arg)
c.2767A>C (p.Ser923Arg)
c.2701A>C (p.Ser901Arg)
c.2062A>C (p.Ser688Arg)
c.2680A>C (p.Ser894Arg)
 gnomAD v4
9g.137813076A>GCA375793426EHMT1c.2938A>G (p.Ser980Gly)
c.2824A>G (p.Ser942Gly)
c.2845A>G (p.Ser949Gly)
c.2978A>G (n.2978A>G)
c.832A>G (p.Ser278Gly)
c.1795A>G (p.Ser599Gly)
c.625A>G
n.464A>G
c.2929A>G (p.Ser977Gly)
c.2920A>G (p.Ser974Gly)
c.2947A>G (p.Ser983Gly)
c.2944A>G (p.Ser982Gly)
c.2926A>G (p.Ser976Gly)
c.2869A>G (p.Ser957Gly)
c.2803A>G (p.Ser935Gly)
c.1369A>G (p.Ser457Gly)
c.721A>G (p.Ser241Gly)
c.508A>G (p.Ser170Gly)
c.2782A>G (p.Ser928Gly)
c.2917A>G (p.Ser973Gly)
c.2923A>G (p.Ser975Gly)
c.2839A>G (p.Ser947Gly)
c.2767A>G (p.Ser923Gly)
c.2701A>G (p.Ser901Gly)
c.2062A>G (p.Ser688Gly)
c.2680A>G (p.Ser894Gly)
9g.137813076A>TCA375793428EHMT1c.2938A>T (p.Ser980Cys)
c.2824A>T (p.Ser942Cys)
c.2845A>T (p.Ser949Cys)
c.2978A>T (n.2978A>T)
c.832A>T (p.Ser278Cys)
c.1795A>T (p.Ser599Cys)
c.625A>T
n.464A>T
c.2929A>T (p.Ser977Cys)
c.2920A>T (p.Ser974Cys)
c.2947A>T (p.Ser983Cys)
c.2944A>T (p.Ser982Cys)
c.2926A>T (p.Ser976Cys)
c.2869A>T (p.Ser957Cys)
c.2803A>T (p.Ser935Cys)
c.1369A>T (p.Ser457Cys)
c.721A>T (p.Ser241Cys)
c.508A>T (p.Ser170Cys)
c.2782A>T (p.Ser928Cys)
c.2917A>T (p.Ser973Cys)
c.2923A>T (p.Ser975Cys)
c.2839A>T (p.Ser947Cys)
c.2767A>T (p.Ser923Cys)
c.2701A>T (p.Ser901Cys)
c.2062A>T (p.Ser688Cys)
c.2680A>T (p.Ser894Cys)
9g.137813077G>ACA375793431EHMT1c.2939G>A (p.Ser980Asn)
c.2825G>A (p.Ser942Asn)
c.2846G>A (p.Ser949Asn)
c.2979G>A (n.2979G>A)
c.833G>A (p.Ser278Asn)
c.1796G>A (p.Ser599Asn)
c.626G>A
n.465G>A
c.2930G>A (p.Ser977Asn)
c.2921G>A (p.Ser974Asn)
c.2948G>A (p.Ser983Asn)
c.2945G>A (p.Ser982Asn)
c.2927G>A (p.Ser976Asn)
c.2870G>A (p.Ser957Asn)
c.2804G>A (p.Ser935Asn)
c.1370G>A (p.Ser457Asn)
c.722G>A (p.Ser241Asn)
c.509G>A (p.Ser170Asn)
c.2783G>A (p.Ser928Asn)
c.2918G>A (p.Ser973Asn)
c.2924G>A (p.Ser975Asn)
c.2840G>A (p.Ser947Asn)
c.2768G>A (p.Ser923Asn)
c.2702G>A (p.Ser901Asn)
c.2063G>A (p.Ser688Asn)
c.2681G>A (p.Ser894Asn)
 gnomAD v4
9g.137813077G>CCA375793433EHMT1c.2939G>C (p.Ser980Thr)
c.2825G>C (p.Ser942Thr)
c.2846G>C (p.Ser949Thr)
c.2979G>C (n.2979G>C)
c.833G>C (p.Ser278Thr)
c.1796G>C (p.Ser599Thr)
c.626G>C
n.465G>C
c.2930G>C (p.Ser977Thr)
c.2921G>C (p.Ser974Thr)
c.2948G>C (p.Ser983Thr)
c.2945G>C (p.Ser982Thr)
c.2927G>C (p.Ser976Thr)
c.2870G>C (p.Ser957Thr)
c.2804G>C (p.Ser935Thr)
c.1370G>C (p.Ser457Thr)
c.722G>C (p.Ser241Thr)
c.509G>C (p.Ser170Thr)
c.2783G>C (p.Ser928Thr)
c.2918G>C (p.Ser973Thr)
c.2924G>C (p.Ser975Thr)
c.2840G>C (p.Ser947Thr)
c.2768G>C (p.Ser923Thr)
c.2702G>C (p.Ser901Thr)
c.2063G>C (p.Ser688Thr)
c.2681G>C (p.Ser894Thr)
9g.137813077G>TCA375793435EHMT1c.2939G>T (p.Ser980Ile)
c.2825G>T (p.Ser942Ile)
c.2846G>T (p.Ser949Ile)
c.2979G>T (n.2979G>T)
c.833G>T (p.Ser278Ile)
c.1796G>T (p.Ser599Ile)
c.626G>T
n.465G>T
c.2930G>T (p.Ser977Ile)
c.2921G>T (p.Ser974Ile)
c.2948G>T (p.Ser983Ile)
c.2945G>T (p.Ser982Ile)
c.2927G>T (p.Ser976Ile)
c.2870G>T (p.Ser957Ile)
c.2804G>T (p.Ser935Ile)
c.1370G>T (p.Ser457Ile)
c.722G>T (p.Ser241Ile)
c.509G>T (p.Ser170Ile)
c.2783G>T (p.Ser928Ile)
c.2918G>T (p.Ser973Ile)
c.2924G>T (p.Ser975Ile)
c.2840G>T (p.Ser947Ile)
c.2768G>T (p.Ser923Ile)
c.2702G>T (p.Ser901Ile)
c.2063G>T (p.Ser688Ile)
c.2681G>T (p.Ser894Ile)
9g.137813078C>ACA375793439EHMT1c.2940C>A (p.Ser980Arg)
c.2826C>A (p.Ser942Arg)
c.2847C>A (p.Ser949Arg)
c.2980C>A (n.2980C>A)
c.834C>A (p.Ser278Arg)
c.1797C>A (p.Ser599Arg)
c.627C>A
n.466C>A
c.2931C>A (p.Ser977Arg)
c.2922C>A (p.Ser974Arg)
c.2949C>A (p.Ser983Arg)
c.2946C>A (p.Ser982Arg)
c.2928C>A (p.Ser976Arg)
c.2871C>A (p.Ser957Arg)
c.2805C>A (p.Ser935Arg)
c.1371C>A (p.Ser457Arg)
c.723C>A (p.Ser241Arg)
c.510C>A (p.Ser170Arg)
c.2784C>A (p.Ser928Arg)
c.2919C>A (p.Ser973Arg)
c.2925C>A (p.Ser975Arg)
c.2841C>A (p.Ser947Arg)
c.2769C>A (p.Ser923Arg)
c.2703C>A (p.Ser901Arg)
c.2064C>A (p.Ser688Arg)
c.2682C>A (p.Ser894Arg)
9g.137813078C>GCA375793437EHMT1c.2940C>G (p.Ser980Arg)
c.2826C>G (p.Ser942Arg)
c.2847C>G (p.Ser949Arg)
c.2980C>G (n.2980C>G)
c.834C>G (p.Ser278Arg)
c.1797C>G (p.Ser599Arg)
c.627C>G
n.466C>G
c.2931C>G (p.Ser977Arg)
c.2922C>G (p.Ser974Arg)
c.2949C>G (p.Ser983Arg)
c.2946C>G (p.Ser982Arg)
c.2928C>G (p.Ser976Arg)
c.2871C>G (p.Ser957Arg)
c.2805C>G (p.Ser935Arg)
c.1371C>G (p.Ser457Arg)
c.723C>G (p.Ser241Arg)
c.510C>G (p.Ser170Arg)
c.2784C>G (p.Ser928Arg)
c.2919C>G (p.Ser973Arg)
c.2925C>G (p.Ser975Arg)
c.2841C>G (p.Ser947Arg)
c.2769C>G (p.Ser923Arg)
c.2703C>G (p.Ser901Arg)
c.2064C>G (p.Ser688Arg)
c.2682C>G (p.Ser894Arg)
9g.137813078C>TCA468161058EHMT1c.2940C>T (p.Ser980=)
c.2826C>T (p.Ser942=)
c.2847C>T (p.Ser949=)
c.2980C>T (n.2980C>T)
c.834C>T (p.Ser278=)
c.1797C>T (p.Ser599=)
c.627C>T
n.466C>T
c.2931C>T (p.Ser977=)
c.2922C>T (p.Ser974=)
c.2949C>T (p.Ser983=)
c.2946C>T (p.Ser982=)
c.2928C>T (p.Ser976=)
c.2871C>T (p.Ser957=)
c.2805C>T (p.Ser935=)
c.1371C>T (p.Ser457=)
c.723C>T (p.Ser241=)
c.510C>T (p.Ser170=)
c.2784C>T (p.Ser928=)
c.2919C>T (p.Ser973=)
c.2925C>T (p.Ser975=)
c.2841C>T (p.Ser947=)
c.2769C>T (p.Ser923=)
c.2703C>T (p.Ser901=)
c.2064C>T (p.Ser688=)
c.2682C>T (p.Ser894=)
 gnomAD v4

Number of alleles fetched