| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137812961C= | CA1884685652 | EHMT1 | c.2868-45C= (n.2868-45C=) c.2754-45C= (n.2754-45C=) c.2775-45C= (n.2775-45C=) c.2908-45C= (n.2908-45C=) c.762-45C= (n.762-45C=) c.1725-45C= (n.1725-45C=) c.555-45C= n.394-45C= c.2859-45C= (n.2859-45C=) c.2850-45C= (n.2850-45C=) c.2877-45C= (n.2877-45C=) c.2874-45C= (n.2874-45C=) c.2856-45C= (n.2856-45C=) c.2799-45C= (n.2799-45C=) c.2733-45C= (n.2733-45C=) c.1299-45C= (n.1299-45C=) c.651-45C= (n.651-45C=) c.438-45C= (n.438-45C=) c.2712-45C= (n.2712-45C=) c.2847-45C= (n.2847-45C=) c.2853-45C= (n.2853-45C=) c.2769-45C= (n.2769-45C=) c.2697-45C= (n.2697-45C=) c.2631-45C= (n.2631-45C=) c.1992-45C= (n.1992-45C=) c.2610-45C= (n.2610-45C=) | |
| 9 | g.137812961C>T | CA201842986 | EHMT1 | c.2868-45C>T (n.2868-45C>T) c.2754-45C>T (n.2754-45C>T) c.2775-45C>T (n.2775-45C>T) c.2908-45C>T (n.2908-45C>T) c.762-45C>T (n.762-45C>T) c.1725-45C>T (n.1725-45C>T) c.555-45C>T n.394-45C>T c.2859-45C>T (n.2859-45C>T) c.2850-45C>T (n.2850-45C>T) c.2877-45C>T (n.2877-45C>T) c.2874-45C>T (n.2874-45C>T) c.2856-45C>T (n.2856-45C>T) c.2799-45C>T (n.2799-45C>T) c.2733-45C>T (n.2733-45C>T) c.1299-45C>T (n.1299-45C>T) c.651-45C>T (n.651-45C>T) c.438-45C>T (n.438-45C>T) c.2712-45C>T (n.2712-45C>T) c.2847-45C>T (n.2847-45C>T) c.2853-45C>T (n.2853-45C>T) c.2769-45C>T (n.2769-45C>T) c.2697-45C>T (n.2697-45C>T) c.2631-45C>T (n.2631-45C>T) c.1992-45C>T (n.1992-45C>T) c.2610-45C>T (n.2610-45C>T) | dbSNP |
| 9 | g.137812965T>G | CA1884685654 | EHMT1 | c.2868-41T>G (n.2868-41T>G) c.2754-41T>G (n.2754-41T>G) c.2775-41T>G (n.2775-41T>G) c.2908-41T>G (n.2908-41T>G) c.762-41T>G (n.762-41T>G) c.1725-41T>G (n.1725-41T>G) c.555-41T>G n.394-41T>G c.2859-41T>G (n.2859-41T>G) c.2850-41T>G (n.2850-41T>G) c.2877-41T>G (n.2877-41T>G) c.2874-41T>G (n.2874-41T>G) c.2856-41T>G (n.2856-41T>G) c.2799-41T>G (n.2799-41T>G) c.2733-41T>G (n.2733-41T>G) c.1299-41T>G (n.1299-41T>G) c.651-41T>G (n.651-41T>G) c.438-41T>G (n.438-41T>G) c.2712-41T>G (n.2712-41T>G) c.2847-41T>G (n.2847-41T>G) c.2853-41T>G (n.2853-41T>G) c.2769-41T>G (n.2769-41T>G) c.2697-41T>G (n.2697-41T>G) c.2631-41T>G (n.2631-41T>G) c.1992-41T>G (n.1992-41T>G) c.2610-41T>G (n.2610-41T>G) | dbSNP |
| 9 | g.137812965T= | CA1884685653 | EHMT1 | c.2868-41T= (n.2868-41T=) c.2754-41T= (n.2754-41T=) c.2775-41T= (n.2775-41T=) c.2908-41T= (n.2908-41T=) c.762-41T= (n.762-41T=) c.1725-41T= (n.1725-41T=) c.555-41T= n.394-41T= c.2859-41T= (n.2859-41T=) c.2850-41T= (n.2850-41T=) c.2877-41T= (n.2877-41T=) c.2874-41T= (n.2874-41T=) c.2856-41T= (n.2856-41T=) c.2799-41T= (n.2799-41T=) c.2733-41T= (n.2733-41T=) c.1299-41T= (n.1299-41T=) c.651-41T= (n.651-41T=) c.438-41T= (n.438-41T=) c.2712-41T= (n.2712-41T=) c.2847-41T= (n.2847-41T=) c.2853-41T= (n.2853-41T=) c.2769-41T= (n.2769-41T=) c.2697-41T= (n.2697-41T=) c.2631-41T= (n.2631-41T=) c.1992-41T= (n.1992-41T=) c.2610-41T= (n.2610-41T=) | |
| 9 | g.137812966C>A | CA2692890669 | EHMT1 | c.2868-40C>A (n.2868-40C>A) c.2754-40C>A (n.2754-40C>A) c.2775-40C>A (n.2775-40C>A) c.2908-40C>A (n.2908-40C>A) c.762-40C>A (n.762-40C>A) c.1725-40C>A (n.1725-40C>A) c.555-40C>A n.394-40C>A c.2859-40C>A (n.2859-40C>A) c.2850-40C>A (n.2850-40C>A) c.2877-40C>A (n.2877-40C>A) c.2874-40C>A (n.2874-40C>A) c.2856-40C>A (n.2856-40C>A) c.2799-40C>A (n.2799-40C>A) c.2733-40C>A (n.2733-40C>A) c.1299-40C>A (n.1299-40C>A) c.651-40C>A (n.651-40C>A) c.438-40C>A (n.438-40C>A) c.2712-40C>A (n.2712-40C>A) c.2847-40C>A (n.2847-40C>A) c.2853-40C>A (n.2853-40C>A) c.2769-40C>A (n.2769-40C>A) c.2697-40C>A (n.2697-40C>A) c.2631-40C>A (n.2631-40C>A) c.1992-40C>A (n.1992-40C>A) c.2610-40C>A (n.2610-40C>A) | gnomAD v4 |
| 9 | g.137812966C= | CA1884685655 | EHMT1 | c.2868-40C= (n.2868-40C=) c.2754-40C= (n.2754-40C=) c.2775-40C= (n.2775-40C=) c.2908-40C= (n.2908-40C=) c.762-40C= (n.762-40C=) c.1725-40C= (n.1725-40C=) c.555-40C= n.394-40C= c.2859-40C= (n.2859-40C=) c.2850-40C= (n.2850-40C=) c.2877-40C= (n.2877-40C=) c.2874-40C= (n.2874-40C=) c.2856-40C= (n.2856-40C=) c.2799-40C= (n.2799-40C=) c.2733-40C= (n.2733-40C=) c.1299-40C= (n.1299-40C=) c.651-40C= (n.651-40C=) c.438-40C= (n.438-40C=) c.2712-40C= (n.2712-40C=) c.2847-40C= (n.2847-40C=) c.2853-40C= (n.2853-40C=) c.2769-40C= (n.2769-40C=) c.2697-40C= (n.2697-40C=) c.2631-40C= (n.2631-40C=) c.1992-40C= (n.1992-40C=) c.2610-40C= (n.2610-40C=) | |
| 9 | g.137812966C>T | CA1130161535 | EHMT1 | c.2868-40C>T (n.2868-40C>T) c.2754-40C>T (n.2754-40C>T) c.2775-40C>T (n.2775-40C>T) c.2908-40C>T (n.2908-40C>T) c.762-40C>T (n.762-40C>T) c.1725-40C>T (n.1725-40C>T) c.555-40C>T n.394-40C>T c.2859-40C>T (n.2859-40C>T) c.2850-40C>T (n.2850-40C>T) c.2877-40C>T (n.2877-40C>T) c.2874-40C>T (n.2874-40C>T) c.2856-40C>T (n.2856-40C>T) c.2799-40C>T (n.2799-40C>T) c.2733-40C>T (n.2733-40C>T) c.1299-40C>T (n.1299-40C>T) c.651-40C>T (n.651-40C>T) c.438-40C>T (n.438-40C>T) c.2712-40C>T (n.2712-40C>T) c.2847-40C>T (n.2847-40C>T) c.2853-40C>T (n.2853-40C>T) c.2769-40C>T (n.2769-40C>T) c.2697-40C>T (n.2697-40C>T) c.2631-40C>T (n.2631-40C>T) c.1992-40C>T (n.1992-40C>T) c.2610-40C>T (n.2610-40C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.137812967A>G | CA2579536494 | EHMT1 | c.2868-39A>G (n.2868-39A>G) c.2754-39A>G (n.2754-39A>G) c.2775-39A>G (n.2775-39A>G) c.2908-39A>G (n.2908-39A>G) c.762-39A>G (n.762-39A>G) c.1725-39A>G (n.1725-39A>G) c.555-39A>G n.394-39A>G c.2859-39A>G (n.2859-39A>G) c.2850-39A>G (n.2850-39A>G) c.2877-39A>G (n.2877-39A>G) c.2874-39A>G (n.2874-39A>G) c.2856-39A>G (n.2856-39A>G) c.2799-39A>G (n.2799-39A>G) c.2733-39A>G (n.2733-39A>G) c.1299-39A>G (n.1299-39A>G) c.651-39A>G (n.651-39A>G) c.438-39A>G (n.438-39A>G) c.2712-39A>G (n.2712-39A>G) c.2847-39A>G (n.2847-39A>G) c.2853-39A>G (n.2853-39A>G) c.2769-39A>G (n.2769-39A>G) c.2697-39A>G (n.2697-39A>G) c.2631-39A>G (n.2631-39A>G) c.1992-39A>G (n.1992-39A>G) c.2610-39A>G (n.2610-39A>G) | gnomAD v4 |
| 9 | g.137812968G>A | CA861223868 | EHMT1 | c.2868-38G>A (n.2868-38G>A) c.2754-38G>A (n.2754-38G>A) c.2775-38G>A (n.2775-38G>A) c.2908-38G>A (n.2908-38G>A) c.762-38G>A (n.762-38G>A) c.1725-38G>A (n.1725-38G>A) c.555-38G>A n.394-38G>A c.2859-38G>A (n.2859-38G>A) c.2850-38G>A (n.2850-38G>A) c.2877-38G>A (n.2877-38G>A) c.2874-38G>A (n.2874-38G>A) c.2856-38G>A (n.2856-38G>A) c.2799-38G>A (n.2799-38G>A) c.2733-38G>A (n.2733-38G>A) c.1299-38G>A (n.1299-38G>A) c.651-38G>A (n.651-38G>A) c.438-38G>A (n.438-38G>A) c.2712-38G>A (n.2712-38G>A) c.2847-38G>A (n.2847-38G>A) c.2853-38G>A (n.2853-38G>A) c.2769-38G>A (n.2769-38G>A) c.2697-38G>A (n.2697-38G>A) c.2631-38G>A (n.2631-38G>A) c.1992-38G>A (n.1992-38G>A) c.2610-38G>A (n.2610-38G>A) | dbSNP |
| 9 | g.137812968G>C | CA5375093 | EHMT1 | c.2868-38G>C (n.2868-38G>C) c.2754-38G>C (n.2754-38G>C) c.2775-38G>C (n.2775-38G>C) c.2908-38G>C (n.2908-38G>C) c.762-38G>C (n.762-38G>C) c.1725-38G>C (n.1725-38G>C) c.555-38G>C n.394-38G>C c.2859-38G>C (n.2859-38G>C) c.2850-38G>C (n.2850-38G>C) c.2877-38G>C (n.2877-38G>C) c.2874-38G>C (n.2874-38G>C) c.2856-38G>C (n.2856-38G>C) c.2799-38G>C (n.2799-38G>C) c.2733-38G>C (n.2733-38G>C) c.1299-38G>C (n.1299-38G>C) c.651-38G>C (n.651-38G>C) c.438-38G>C (n.438-38G>C) c.2712-38G>C (n.2712-38G>C) c.2847-38G>C (n.2847-38G>C) c.2853-38G>C (n.2853-38G>C) c.2769-38G>C (n.2769-38G>C) c.2697-38G>C (n.2697-38G>C) c.2631-38G>C (n.2631-38G>C) c.1992-38G>C (n.1992-38G>C) c.2610-38G>C (n.2610-38G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137812968G= | CA1884685656 | EHMT1 | c.2868-38G= (n.2868-38G=) c.2754-38G= (n.2754-38G=) c.2775-38G= (n.2775-38G=) c.2908-38G= (n.2908-38G=) c.762-38G= (n.762-38G=) c.1725-38G= (n.1725-38G=) c.555-38G= n.394-38G= c.2859-38G= (n.2859-38G=) c.2850-38G= (n.2850-38G=) c.2877-38G= (n.2877-38G=) c.2874-38G= (n.2874-38G=) c.2856-38G= (n.2856-38G=) c.2799-38G= (n.2799-38G=) c.2733-38G= (n.2733-38G=) c.1299-38G= (n.1299-38G=) c.651-38G= (n.651-38G=) c.438-38G= (n.438-38G=) c.2712-38G= (n.2712-38G=) c.2847-38G= (n.2847-38G=) c.2853-38G= (n.2853-38G=) c.2769-38G= (n.2769-38G=) c.2697-38G= (n.2697-38G=) c.2631-38G= (n.2631-38G=) c.1992-38G= (n.1992-38G=) c.2610-38G= (n.2610-38G=) | |
| 9 | g.137812968G>T | CA2692890670 | EHMT1 | c.2868-38G>T (n.2868-38G>T) c.2754-38G>T (n.2754-38G>T) c.2775-38G>T (n.2775-38G>T) c.2908-38G>T (n.2908-38G>T) c.762-38G>T (n.762-38G>T) c.1725-38G>T (n.1725-38G>T) c.555-38G>T n.394-38G>T c.2859-38G>T (n.2859-38G>T) c.2850-38G>T (n.2850-38G>T) c.2877-38G>T (n.2877-38G>T) c.2874-38G>T (n.2874-38G>T) c.2856-38G>T (n.2856-38G>T) c.2799-38G>T (n.2799-38G>T) c.2733-38G>T (n.2733-38G>T) c.1299-38G>T (n.1299-38G>T) c.651-38G>T (n.651-38G>T) c.438-38G>T (n.438-38G>T) c.2712-38G>T (n.2712-38G>T) c.2847-38G>T (n.2847-38G>T) c.2853-38G>T (n.2853-38G>T) c.2769-38G>T (n.2769-38G>T) c.2697-38G>T (n.2697-38G>T) c.2631-38G>T (n.2631-38G>T) c.1992-38G>T (n.1992-38G>T) c.2610-38G>T (n.2610-38G>T) | gnomAD v4 |
| 9 | g.137812969C>T | CA2786319604 | EHMT1 | c.2868-37C>T (n.2868-37C>T) c.2754-37C>T (n.2754-37C>T) c.2775-37C>T (n.2775-37C>T) c.2908-37C>T (n.2908-37C>T) c.762-37C>T (n.762-37C>T) c.1725-37C>T (n.1725-37C>T) c.555-37C>T n.394-37C>T c.2859-37C>T (n.2859-37C>T) c.2850-37C>T (n.2850-37C>T) c.2877-37C>T (n.2877-37C>T) c.2874-37C>T (n.2874-37C>T) c.2856-37C>T (n.2856-37C>T) c.2799-37C>T (n.2799-37C>T) c.2733-37C>T (n.2733-37C>T) c.1299-37C>T (n.1299-37C>T) c.651-37C>T (n.651-37C>T) c.438-37C>T (n.438-37C>T) c.2712-37C>T (n.2712-37C>T) c.2847-37C>T (n.2847-37C>T) c.2853-37C>T (n.2853-37C>T) c.2769-37C>T (n.2769-37C>T) c.2697-37C>T (n.2697-37C>T) c.2631-37C>T (n.2631-37C>T) c.1992-37C>T (n.1992-37C>T) c.2610-37C>T (n.2610-37C>T) | |
| 9 | g.137812972_137812973delinsTA | CA1884685657 | EHMT1 | c.2868-34_2868-33delinsTA (n.2868-34_2868-33delinsTA) c.2754-34_2754-33delinsTA (n.2754-34_2754-33delinsTA) c.2775-34_2775-33delinsTA (n.2775-34_2775-33delinsTA) c.2908-34_2908-33delinsTA (n.2908-34_2908-33delinsTA) c.762-34_762-33delinsTA (n.762-34_762-33delinsTA) c.1725-34_1725-33delinsTA (n.1725-34_1725-33delinsTA) c.555-34_555-33delinsTA n.394-34_394-33delinsTA c.2859-34_2859-33delinsTA (n.2859-34_2859-33delinsTA) c.2850-34_2850-33delinsTA (n.2850-34_2850-33delinsTA) c.2877-34_2877-33delinsTA (n.2877-34_2877-33delinsTA) c.2874-34_2874-33delinsTA (n.2874-34_2874-33delinsTA) c.2856-34_2856-33delinsTA (n.2856-34_2856-33delinsTA) c.2799-34_2799-33delinsTA (n.2799-34_2799-33delinsTA) c.2733-34_2733-33delinsTA (n.2733-34_2733-33delinsTA) c.1299-34_1299-33delinsTA (n.1299-34_1299-33delinsTA) c.651-34_651-33delinsTA (n.651-34_651-33delinsTA) c.438-34_438-33delinsTA (n.438-34_438-33delinsTA) c.2712-34_2712-33delinsTA (n.2712-34_2712-33delinsTA) c.2847-34_2847-33delinsTA (n.2847-34_2847-33delinsTA) c.2853-34_2853-33delinsTA (n.2853-34_2853-33delinsTA) c.2769-34_2769-33delinsTA (n.2769-34_2769-33delinsTA) c.2697-34_2697-33delinsTA (n.2697-34_2697-33delinsTA) c.2631-34_2631-33delinsTA (n.2631-34_2631-33delinsTA) c.1992-34_1992-33delinsTA (n.1992-34_1992-33delinsTA) c.2610-34_2610-33delinsTA (n.2610-34_2610-33delinsTA) | |
| 9 | g.137812973A>C | CA2692890671 | EHMT1 | c.2868-33A>C (n.2868-33A>C) c.2754-33A>C (n.2754-33A>C) c.2775-33A>C (n.2775-33A>C) c.2908-33A>C (n.2908-33A>C) c.762-33A>C (n.762-33A>C) c.1725-33A>C (n.1725-33A>C) c.555-33A>C n.394-33A>C c.2859-33A>C (n.2859-33A>C) c.2850-33A>C (n.2850-33A>C) c.2877-33A>C (n.2877-33A>C) c.2874-33A>C (n.2874-33A>C) c.2856-33A>C (n.2856-33A>C) c.2799-33A>C (n.2799-33A>C) c.2733-33A>C (n.2733-33A>C) c.1299-33A>C (n.1299-33A>C) c.651-33A>C (n.651-33A>C) c.438-33A>C (n.438-33A>C) c.2712-33A>C (n.2712-33A>C) c.2847-33A>C (n.2847-33A>C) c.2853-33A>C (n.2853-33A>C) c.2769-33A>C (n.2769-33A>C) c.2697-33A>C (n.2697-33A>C) c.2631-33A>C (n.2631-33A>C) c.1992-33A>C (n.1992-33A>C) c.2610-33A>C (n.2610-33A>C) | gnomAD v4 |
| 9 | g.137812975del | CA5375094 | EHMT1 | c.2868-31del (n.2868-31del) c.2754-31del (n.2754-31del) c.2775-31del (n.2775-31del) c.2908-31del (n.2908-31del) c.762-31del (n.762-31del) c.1725-31del (n.1725-31del) c.555-31del n.394-31del c.2859-31del (n.2859-31del) c.2850-31del (n.2850-31del) c.2877-31del (n.2877-31del) c.2874-31del (n.2874-31del) c.2856-31del (n.2856-31del) c.2799-31del (n.2799-31del) c.2733-31del (n.2733-31del) c.1299-31del (n.1299-31del) c.651-31del (n.651-31del) c.438-31del (n.438-31del) c.2712-31del (n.2712-31del) c.2847-31del (n.2847-31del) c.2853-31del (n.2853-31del) c.2769-31del (n.2769-31del) c.2697-31del (n.2697-31del) c.2631-31del (n.2631-31del) c.1992-31del (n.1992-31del) c.2610-31del (n.2610-31del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.137812980T>C | CA5375095 | EHMT1 | c.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 |
| 9 | g.137812980T= | CA1884685658 | EHMT1 | c.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=) | |
| 9 | g.137812982G>A | CA591375844 | EHMT1 | c.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 |
| 9 | g.137812982G>C | CA861223873 | EHMT1 | c.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 |
| 9 | g.137812982G= | CA1884685659 | EHMT1 | c.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=) | |
| 9 | g.137812983T>C | CA2692890672 | EHMT1 | c.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 |
| 9 | g.137812985G>A | CA5375096 | EHMT1 | c.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 |
| 9 | g.137812985G= | CA1884685660 | EHMT1 | c.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=) | |
| 9 | g.137812986C= | CA1884685661 | EHMT1 | c.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=) | |
| 9 | g.137812986C>G | CA591375845 | EHMT1 | c.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 |
| 9 | g.137812989T>A | CA2579536495 | EHMT1 | c.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 |
| 9 | g.137812991C>A | CA2692890673 | EHMT1 | c.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 |
| 9 | g.137812991C= | CA1884685662 | EHMT1 | c.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=) | |
| 9 | g.137812991C>T | CA201843062 | EHMT1 | c.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 |
| 9 | g.137812992A>G | CA2579536496 | EHMT1 | c.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 |
| 9 | g.137812994T>C | CA2692890674 | EHMT1 | c.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 |
| 9 | g.137812997C= | CA1884685663 | EHMT1 | c.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=) | |
| 9 | g.137812997C>G | CA201843067 | EHMT1 | c.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 |
| 9 | g.137812997C>T | CA1130161543 | EHMT1 | c.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 |
| 9 | g.137812998C= | CA1884685664 | EHMT1 | c.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=) | |
| 9 | g.137812998C>T | CA5375097 | EHMT1 | c.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 |
| 9 | g.137812999C= | CA1884685665 | EHMT1 | c.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=) | |
| 9 | g.137812999C>T | CA1884685666 | EHMT1 | c.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 |
| 9 | g.137813004A>C | CA375793151 | EHMT1 | c.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) | |
| 9 | g.137813004A>G | CA375793149 | EHMT1 | c.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) | |
| 9 | g.137813004A>T | CA375793146 | EHMT1 | c.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) | |
| 9 | g.137813005G>A | CA345058 | EHMT1 | c.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 |
| 9 | g.137813005G>C | CA375793152 | EHMT1 | c.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) | |
| 9 | g.137813005G= | CA1884685667 | EHMT1 | c.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=) | |
| 9 | g.137813005G>T | CA375793154 | EHMT1 | c.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) | |
| 9 | g.137813006C>A | CA468161012 | EHMT1 | c.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=) | |
| 9 | g.137813006C>G | CA468161013 | EHMT1 | c.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=) | |
| 9 | g.137813006C>T | CA468161014 | EHMT1 | c.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=) | |
| 9 | g.137813007C>A | CA375793157 | EHMT1 | c.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) | |
| 9 | g.137813007C>G | CA375793159 | EHMT1 | c.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 |
| 9 | g.137813007C>T | CA375793161 | EHMT1 | c.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) | |
| 9 | g.137813007_137813011delinsCTCTT | CA1884685668 | EHMT1 | c.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=) | |
| 9 | g.137813008T>A | CA375793163 | EHMT1 | c.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) | |
| 9 | g.137813008T>C | CA375793165 | EHMT1 | c.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) | |
| 9 | g.137813008T>G | CA375793167 | EHMT1 | c.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) | |
| 9 | g.137813015_137813018del | CA345059 | EHMT1 | c.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 |
| 9 | g.137813009C>A | CA468161015 | EHMT1 | c.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=) | |
| 9 | g.137813009C= | CA1884685669 | EHMT1 | c.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=) | |
| 9 | g.137813009C>G | CA468161016 | EHMT1 | c.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 |
| 9 | g.137813009C>T | CA468161017 | EHMT1 | c.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=) | |
| 9 | g.137813010T>A | CA375793171 | EHMT1 | c.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) | |
| 9 | g.137813010T>C | CA375793173 | EHMT1 | c.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) | |
| 9 | g.137813010T>G | CA375793175 | EHMT1 | c.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) | |
| 9 | g.137813011T>A | CA375793180 | EHMT1 | c.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) | |
| 9 | g.137813011T>C | CA375793178 | EHMT1 | c.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) | |
| 9 | g.137813011T>G | CA375793176 | EHMT1 | c.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) | |
| 9 | g.137813012T>A | CA375793181 | EHMT1 | c.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) | |
| 9 | g.137813012T>C | CA468161018 | EHMT1 | c.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=) | |
| 9 | g.137813012T>G | CA375793183 | EHMT1 | c.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) | |
| 9 | g.137813013C>A | CA375793186 | EHMT1 | c.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) | |
| 9 | g.137813013C>G | CA375793187 | EHMT1 | c.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) | |
| 9 | g.137813013C>T | CA375793188 | EHMT1 | c.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 |
| 9 | g.137813014T>A | CA375793190 | EHMT1 | c.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) | |
| 9 | g.137813014T>C | CA375793192 | EHMT1 | c.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) | |
| 9 | g.137813014T>G | CA375793194 | EHMT1 | c.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) | |
| 9 | g.137813015T>A | CA468161019 | EHMT1 | c.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=) | |
| 9 | g.137813015T>C | CA201843116 | EHMT1 | c.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 |
| 9 | g.137813015T>G | CA468161020 | EHMT1 | c.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=) | |
| 9 | g.137813015T= | CA1884685671 | EHMT1 | c.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=) | |
| 9 | g.137813015_137813019delinsTTCTC | CA1884685670 | EHMT1 | c.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=) | |
| 9 | g.137813016T>A | CA375793197 | EHMT1 | c.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) | |
| 9 | g.137813016T>C | CA375793198 | EHMT1 | c.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) | |
| 9 | g.137813016T>G | CA375793199 | EHMT1 | c.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) | |
| 9 | g.137813016_137813019del | CA201843129 | EHMT1 | c.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 |
| 9 | g.137813017C>A | CA5375098 | EHMT1 | c.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 |
| 9 | g.137813017C= | CA1884685672 | EHMT1 | c.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=) | |
| 9 | g.137813017C>G | CA375793203 | EHMT1 | c.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) | |
| 9 | g.137813017C>T | CA375793204 | EHMT1 | c.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) | |
| 9 | g.137813018T>A | CA468161021 | EHMT1 | c.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 |
| 9 | g.137813018T>C | CA468161022 | EHMT1 | c.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=) | |
| 9 | g.137813018T>G | CA468161023 | EHMT1 | c.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=) | |
| 9 | g.137813018T= | CA1884685673 | EHMT1 | c.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=) | |
| 9 | g.137813019C>A | CA468161024 | EHMT1 | c.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=) | |
| 9 | g.137813019C>G | CA375793208 | EHMT1 | c.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) | |
| 9 | g.137813019C>T | CA375793209 | EHMT1 | c.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 |
| 9 | g.137813020G>A | CA10633344 | EHMT1 | c.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 |
| 9 | g.137813020G>C | CA375793213 | EHMT1 | c.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) | |
| 9 | g.137813020G= | CA1884685674 | EHMT1 | c.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=) | |
| 9 | g.137813020G>T | CA375793212 | EHMT1 | c.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) | |
| 9 | g.137813021G>A | CA468161025 | EHMT1 | c.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=) | |
| 9 | g.137813021G>C | CA468161026 | EHMT1 | c.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=) | |
| 9 | g.137813021G>T | CA468161027 | EHMT1 | c.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=) | |
| 9 | g.137813022G>A | CA375793215 | EHMT1 | c.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) | |
| 9 | g.137813022G>C | CA375793216 | EHMT1 | c.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) | |
| 9 | g.137813022G>T | CA375793218 | EHMT1 | c.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) | |
| 9 | g.137813023A>C | CA375793220 | EHMT1 | c.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) | |
| 9 | g.137813023A>G | CA375793222 | EHMT1 | c.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) | |
| 9 | g.137813023A>T | CA375793224 | EHMT1 | c.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) | |
| 9 | g.137813024T>A | CA375793225 | EHMT1 | c.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) | |
| 9 | g.137813024T>C | CA468161028 | EHMT1 | c.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=) | |
| 9 | g.137813024T>G | CA375793226 | EHMT1 | c.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) | |
| 9 | g.137813025T>A | CA375793228 | EHMT1 | c.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) | |
| 9 | g.137813025T>C | CA375793230 | EHMT1 | c.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) | |
| 9 | g.137813025T>G | CA375793232 | EHMT1 | c.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) | |
| 9 | g.137813026C>A | CA375793239 | EHMT1 | c.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) | |
| 9 | g.137813026C>G | CA375793235 | EHMT1 | c.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) | |
| 9 | g.137813026C>T | CA375793237 | EHMT1 | c.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) | |
| 9 | g.137813027A>C | CA468161029 | EHMT1 | c.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 |
| 9 | g.137813027A>G | CA468161030 | EHMT1 | c.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 |
| 9 | g.137813027A>T | CA468161031 | EHMT1 | c.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=) | |
| 9 | g.137813028G>A | CA375793242 | EHMT1 | c.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 |
| 9 | g.137813028G>C | CA375793244 | EHMT1 | c.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 |
| 9 | g.137813028G>T | CA375793245 | EHMT1 | c.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) | |
| 9 | g.137813029A>C | CA375793248 | EHMT1 | c.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) | |
| 9 | g.137813029A>G | CA375793250 | EHMT1 | c.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) | |
| 9 | g.137813029A>T | CA375793251 | EHMT1 | c.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) | |
| 9 | g.137813030T>A | CA375793254 | EHMT1 | c.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) | |
| 9 | g.137813030T>C | CA468161032 | EHMT1 | c.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=) | |
| 9 | g.137813030T>G | CA375793256 | EHMT1 | c.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) | |
| 9 | g.137813031G>A | CA375793258 | EHMT1 | c.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 |
| 9 | g.137813031G>C | CA375793261 | EHMT1 | c.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) | |
| 9 | g.137813031G>T | CA375793263 | EHMT1 | c.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) | |
| 9 | g.137813032T>A | CA375793266 | EHMT1 | c.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) | |
| 9 | g.137813032T>C | CA375793268 | EHMT1 | c.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) | |
| 9 | g.137813032T>G | CA375793265 | EHMT1 | c.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) | |
| 9 | g.137813033C>A | CA468161033 | EHMT1 | c.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 |
| 9 | g.137813033C>G | CA468161034 | EHMT1 | c.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=) | |
| 9 | g.137813033C>T | CA468161035 | EHMT1 | c.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 |
| 9 | g.137813034A= | CA1884685675 | EHMT1 | c.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=) | |
| 9 | g.137813034A>C | CA201843137 | EHMT1 | c.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 |
| 9 | g.137813034A>G | CA375793272 | EHMT1 | c.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) | |
| 9 | g.137813034A>T | CA375793273 | EHMT1 | c.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) | |
| 9 | g.137813035C>A | CA375793275 | EHMT1 | c.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) | |
| 9 | g.137813035C>G | CA375793277 | EHMT1 | c.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) | |
| 9 | g.137813035C>T | CA375793278 | EHMT1 | c.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) | |
| 9 | g.137813036C>A | CA468161037 | EHMT1 | c.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=) | |
| 9 | g.137813036C= | CA1884685676 | EHMT1 | c.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=) | |
| 9 | g.137813036C>G | CA468161036 | EHMT1 | c.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=) | |
| 9 | g.137813036C>T | CA5375099 | EHMT1 | c.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 |
| 9 | g.137813037T>A | CA375793281 | EHMT1 | c.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) | |
| 9 | g.137813037T>C | CA468161038 | EHMT1 | c.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 |
| 9 | g.137813037T>G | CA375793283 | EHMT1 | c.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 |
| 9 | g.137813037T= | CA1884685677 | EHMT1 | c.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=) | |
| 9 | g.137813038T>A | CA375793285 | EHMT1 | c.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) | |
| 9 | g.137813038T>C | CA375793287 | EHMT1 | c.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 |
| 9 | g.137813038T>G | CA375793288 | EHMT1 | c.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) | |
| 9 | g.137813039A= | CA1884685678 | EHMT1 | c.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=) | |
| 9 | g.137813039A>C | CA375793289 | EHMT1 | c.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) | |
| 9 | g.137813039A>G | CA468161039 | EHMT1 | c.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 |
| 9 | g.137813039A>T | CA375793291 | EHMT1 | c.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) | |
| 9 | g.137813040A>C | CA375793293 | EHMT1 | c.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) | |
| 9 | g.137813040A>G | CA375793297 | EHMT1 | c.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) | |
| 9 | g.137813040A>T | CA375793295 | EHMT1 | c.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) | |
| 9 | g.137813041A>C | CA375793299 | EHMT1 | c.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) | |
| 9 | g.137813041A>G | CA375793301 | EHMT1 | c.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 |
| 9 | g.137813041A>T | CA375793303 | EHMT1 | c.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) | |
| 9 | g.137813042G>A | CA5375100 | EHMT1 | c.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 |
| 9 | g.137813042G>C | CA375793307 | EHMT1 | c.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) | |
| 9 | g.137813042G= | CA1884685679 | EHMT1 | c.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=) | |
| 9 | g.137813042G>T | CA375793310 | EHMT1 | c.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) | |
| 9 | g.137813043A>C | CA375793313 | EHMT1 | c.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) | |
| 9 | g.137813043A>G | CA375793314 | EHMT1 | c.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) | |
| 9 | g.137813043A>T | CA375793316 | EHMT1 | c.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) | |
| 9 | g.137813044A>C | CA375793318 | EHMT1 | c.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) | |
| 9 | g.137813044A>G | CA375793319 | EHMT1 | c.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) | |
| 9 | g.137813044A>T | CA375793320 | EHMT1 | c.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) | |
| 9 | g.137813045C>A | CA375793321 | EHMT1 | c.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) | |
| 9 | g.137813045C= | CA1884685680 | EHMT1 | c.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=) | |
| 9 | g.137813045C>G | CA375793323 | EHMT1 | c.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) | |
| 9 | g.137813045C>T | CA201843145 | EHMT1 | c.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 |
| 9 | g.137813046A>C | CA375793324 | EHMT1 | c.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) | |
| 9 | g.137813046A>G | CA375793325 | EHMT1 | c.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) | |
| 9 | g.137813046A>T | CA375793327 | EHMT1 | c.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) | |
| 9 | g.137813047A= | CA1884685681 | EHMT1 | c.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=) | |
| 9 | g.137813047A>C | CA375793330 | EHMT1 | c.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 |
| 9 | g.137813047A>G | CA5375101 | EHMT1 | c.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 |
| 9 | g.137813047A>T | CA375793334 | EHMT1 | c.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) | |
| 9 | g.137813048G>A | CA468161040 | EHMT1 | c.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 |
| 9 | g.137813048G>C | CA375793337 | EHMT1 | c.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) | |
| 9 | g.137813048G= | CA1884685682 | EHMT1 | c.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=) | |
| 9 | g.137813048G>T | CA375793339 | EHMT1 | c.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) | |
| 9 | g.137813049G>A | CA375793341 | EHMT1 | c.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) | |
| 9 | g.137813049G>C | CA375793343 | EHMT1 | c.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) | |
| 9 | g.137813049G>T | CA375793345 | EHMT1 | c.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) | |
| 9 | g.137813050A>C | CA375793347 | EHMT1 | c.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) | |
| 9 | g.137813050A>G | CA375793348 | EHMT1 | c.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 |
| 9 | g.137813050A>T | CA375793349 | EHMT1 | c.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) | |
| 9 | g.137813051A>C | CA375793351 | EHMT1 | c.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) | |
| 9 | g.137813051A>G | CA468161041 | EHMT1 | c.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=) | |
| 9 | g.137813051A>T | CA375793350 | EHMT1 | c.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) | |
| 9 | g.137813052G>A | CA375793352 | EHMT1 | c.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) | |
| 9 | g.137813052G>C | CA375793353 | EHMT1 | c.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) | |
| 9 | g.137813052G>T | CA375793354 | EHMT1 | c.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) | |
| 9 | g.137813053G>A | CA375793355 | EHMT1 | c.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) | |
| 9 | g.137813053G>C | CA375793356 | EHMT1 | c.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 |
| 9 | g.137813053G>T | CA375793357 | EHMT1 | c.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) | |
| 9 | g.137813054A>C | CA468161042 | EHMT1 | c.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=) | |
| 9 | g.137813054A>G | CA468161043 | EHMT1 | c.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 |
| 9 | g.137813054A>T | CA468161044 | EHMT1 | c.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=) | |
| 9 | g.137813055G>A | CA375793360 | EHMT1 | c.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) | |
| 9 | g.137813055G>C | CA375793358 | EHMT1 | c.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) | |
| 9 | g.137813055G>T | CA375793359 | EHMT1 | c.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) | |
| 9 | g.137813056A>C | CA375793361 | EHMT1 | c.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) | |
| 9 | g.137813056A>G | CA375793362 | EHMT1 | c.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) | |
| 9 | g.137813056A>T | CA375793363 | EHMT1 | c.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 |
| 9 | g.137813057G>A | CA468161045 | EHMT1 | c.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=) | |
| 9 | g.137813057G>C | CA375793364 | EHMT1 | c.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 |
| 9 | g.137813057G>T | CA375793365 | EHMT1 | c.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) | |
| 9 | g.137813058A>C | CA375793366 | EHMT1 | c.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) | |
| 9 | g.137813058A>G | CA375793368 | EHMT1 | c.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) | |
| 9 | g.137813058A>T | CA375793367 | EHMT1 | c.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) | |
| 9 | g.137813059C>A | CA375793369 | EHMT1 | c.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) | |
| 9 | g.137813059C= | CA1884685683 | EHMT1 | c.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=) | |
| 9 | g.137813059C>G | CA375793370 | EHMT1 | c.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) | |
| 9 | g.137813059C>T | CA5375102 | EHMT1 | c.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 |
| 9 | g.137813060G>A | CA5375103 | EHMT1 | c.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 |
| 9 | g.137813060G>C | CA468161046 | EHMT1 | c.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=) | |
| 9 | g.137813060G= | CA1884685684 | EHMT1 | c.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=) | |
| 9 | g.137813060G>T | CA468161047 | EHMT1 | c.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 |