Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.137813058A>CCA375793366EHMT1c.2920A>C (p.Thr974Pro)
c.2806A>C (p.Thr936Pro)
c.2827A>C (p.Thr943Pro)
c.2960A>C (n.2960A>C)
c.814A>C (p.Thr272Pro)
c.1777A>C (p.Thr593Pro)
c.607A>C
n.446A>C
c.2911A>C (p.Thr971Pro)
c.2902A>C (p.Thr968Pro)
c.2929A>C (p.Thr977Pro)
c.2926A>C (p.Thr976Pro)
c.2908A>C (p.Thr970Pro)
c.2851A>C (p.Thr951Pro)
c.2785A>C (p.Thr929Pro)
c.1351A>C (p.Thr451Pro)
c.703A>C (p.Thr235Pro)
c.490A>C (p.Thr164Pro)
c.2764A>C (p.Thr922Pro)
c.2899A>C (p.Thr967Pro)
c.2905A>C (p.Thr969Pro)
c.2821A>C (p.Thr941Pro)
c.2749A>C (p.Thr917Pro)
c.2683A>C (p.Thr895Pro)
c.2044A>C (p.Thr682Pro)
c.2662A>C (p.Thr888Pro)
9g.137813058A>GCA375793368EHMT1c.2920A>G (p.Thr974Ala)
c.2806A>G (p.Thr936Ala)
c.2827A>G (p.Thr943Ala)
c.2960A>G (n.2960A>G)
c.814A>G (p.Thr272Ala)
c.1777A>G (p.Thr593Ala)
c.607A>G
n.446A>G
c.2911A>G (p.Thr971Ala)
c.2902A>G (p.Thr968Ala)
c.2929A>G (p.Thr977Ala)
c.2926A>G (p.Thr976Ala)
c.2908A>G (p.Thr970Ala)
c.2851A>G (p.Thr951Ala)
c.2785A>G (p.Thr929Ala)
c.1351A>G (p.Thr451Ala)
c.703A>G (p.Thr235Ala)
c.490A>G (p.Thr164Ala)
c.2764A>G (p.Thr922Ala)
c.2899A>G (p.Thr967Ala)
c.2905A>G (p.Thr969Ala)
c.2821A>G (p.Thr941Ala)
c.2749A>G (p.Thr917Ala)
c.2683A>G (p.Thr895Ala)
c.2044A>G (p.Thr682Ala)
c.2662A>G (p.Thr888Ala)
9g.137813058A>TCA375793367EHMT1c.2920A>T (p.Thr974Ser)
c.2806A>T (p.Thr936Ser)
c.2827A>T (p.Thr943Ser)
c.2960A>T (n.2960A>T)
c.814A>T (p.Thr272Ser)
c.1777A>T (p.Thr593Ser)
c.607A>T
n.446A>T
c.2911A>T (p.Thr971Ser)
c.2902A>T (p.Thr968Ser)
c.2929A>T (p.Thr977Ser)
c.2926A>T (p.Thr976Ser)
c.2908A>T (p.Thr970Ser)
c.2851A>T (p.Thr951Ser)
c.2785A>T (p.Thr929Ser)
c.1351A>T (p.Thr451Ser)
c.703A>T (p.Thr235Ser)
c.490A>T (p.Thr164Ser)
c.2764A>T (p.Thr922Ser)
c.2899A>T (p.Thr967Ser)
c.2905A>T (p.Thr969Ser)
c.2821A>T (p.Thr941Ser)
c.2749A>T (p.Thr917Ser)
c.2683A>T (p.Thr895Ser)
c.2044A>T (p.Thr682Ser)
c.2662A>T (p.Thr888Ser)
9g.137813059C>ACA375793369EHMT1c.2921C>A (p.Thr974Lys)
c.2807C>A (p.Thr936Lys)
c.2828C>A (p.Thr943Lys)
c.2961C>A (n.2961C>A)
c.815C>A (p.Thr272Lys)
c.1778C>A (p.Thr593Lys)
c.608C>A
n.447C>A
c.2912C>A (p.Thr971Lys)
c.2903C>A (p.Thr968Lys)
c.2930C>A (p.Thr977Lys)
c.2927C>A (p.Thr976Lys)
c.2909C>A (p.Thr970Lys)
c.2852C>A (p.Thr951Lys)
c.2786C>A (p.Thr929Lys)
c.1352C>A (p.Thr451Lys)
c.704C>A (p.Thr235Lys)
c.491C>A (p.Thr164Lys)
c.2765C>A (p.Thr922Lys)
c.2900C>A (p.Thr967Lys)
c.2906C>A (p.Thr969Lys)
c.2822C>A (p.Thr941Lys)
c.2750C>A (p.Thr917Lys)
c.2684C>A (p.Thr895Lys)
c.2045C>A (p.Thr682Lys)
c.2663C>A (p.Thr888Lys)
9g.137813059C=CA1884685683EHMT1c.2921C= (p.Thr974=)
c.2807C= (p.Thr936=)
c.2828C= (p.Thr943=)
c.2961C= (n.2961C=)
c.815C= (p.Thr272=)
c.1778C= (p.Thr593=)
c.608C=
n.447C=
c.2912C= (p.Thr971=)
c.2903C= (p.Thr968=)
c.2930C= (p.Thr977=)
c.2927C= (p.Thr976=)
c.2909C= (p.Thr970=)
c.2852C= (p.Thr951=)
c.2786C= (p.Thr929=)
c.1352C= (p.Thr451=)
c.704C= (p.Thr235=)
c.491C= (p.Thr164=)
c.2765C= (p.Thr922=)
c.2900C= (p.Thr967=)
c.2906C= (p.Thr969=)
c.2822C= (p.Thr941=)
c.2750C= (p.Thr917=)
c.2684C= (p.Thr895=)
c.2045C= (p.Thr682=)
c.2663C= (p.Thr888=)
9g.137813059C>GCA375793370EHMT1c.2921C>G (p.Thr974Arg)
c.2807C>G (p.Thr936Arg)
c.2828C>G (p.Thr943Arg)
c.2961C>G (n.2961C>G)
c.815C>G (p.Thr272Arg)
c.1778C>G (p.Thr593Arg)
c.608C>G
n.447C>G
c.2912C>G (p.Thr971Arg)
c.2903C>G (p.Thr968Arg)
c.2930C>G (p.Thr977Arg)
c.2927C>G (p.Thr976Arg)
c.2909C>G (p.Thr970Arg)
c.2852C>G (p.Thr951Arg)
c.2786C>G (p.Thr929Arg)
c.1352C>G (p.Thr451Arg)
c.704C>G (p.Thr235Arg)
c.491C>G (p.Thr164Arg)
c.2765C>G (p.Thr922Arg)
c.2900C>G (p.Thr967Arg)
c.2906C>G (p.Thr969Arg)
c.2822C>G (p.Thr941Arg)
c.2750C>G (p.Thr917Arg)
c.2684C>G (p.Thr895Arg)
c.2045C>G (p.Thr682Arg)
c.2663C>G (p.Thr888Arg)
9g.137813059C>TCA5375102EHMT1c.2921C>T (p.Thr974Met)
c.2807C>T (p.Thr936Met)
c.2828C>T (p.Thr943Met)
c.2961C>T (n.2961C>T)
c.815C>T (p.Thr272Met)
c.1778C>T (p.Thr593Met)
c.608C>T
n.447C>T
c.2912C>T (p.Thr971Met)
c.2903C>T (p.Thr968Met)
c.2930C>T (p.Thr977Met)
c.2927C>T (p.Thr976Met)
c.2909C>T (p.Thr970Met)
c.2852C>T (p.Thr951Met)
c.2786C>T (p.Thr929Met)
c.1352C>T (p.Thr451Met)
c.704C>T (p.Thr235Met)
c.491C>T (p.Thr164Met)
c.2765C>T (p.Thr922Met)
c.2900C>T (p.Thr967Met)
c.2906C>T (p.Thr969Met)
c.2822C>T (p.Thr941Met)
c.2750C>T (p.Thr917Met)
c.2684C>T (p.Thr895Met)
c.2045C>T (p.Thr682Met)
c.2663C>T (p.Thr888Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813060G>ACA5375103EHMT1c.2922G>A (p.Thr974=)
c.2808G>A (p.Thr936=)
c.2829G>A (p.Thr943=)
c.2962G>A (n.2962G>A)
c.816G>A (p.Thr272=)
c.1779G>A (p.Thr593=)
c.609G>A
n.448G>A
c.2913G>A (p.Thr971=)
c.2904G>A (p.Thr968=)
c.2931G>A (p.Thr977=)
c.2928G>A (p.Thr976=)
c.2910G>A (p.Thr970=)
c.2853G>A (p.Thr951=)
c.2787G>A (p.Thr929=)
c.1353G>A (p.Thr451=)
c.705G>A (p.Thr235=)
c.492G>A (p.Thr164=)
c.2766G>A (p.Thr922=)
c.2901G>A (p.Thr967=)
c.2907G>A (p.Thr969=)
c.2823G>A (p.Thr941=)
c.2751G>A (p.Thr917=)
c.2685G>A (p.Thr895=)
c.2046G>A (p.Thr682=)
c.2664G>A (p.Thr888=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813060G>CCA468161046EHMT1c.2922G>C (p.Thr974=)
c.2808G>C (p.Thr936=)
c.2829G>C (p.Thr943=)
c.2962G>C (n.2962G>C)
c.816G>C (p.Thr272=)
c.1779G>C (p.Thr593=)
c.609G>C
n.448G>C
c.2913G>C (p.Thr971=)
c.2904G>C (p.Thr968=)
c.2931G>C (p.Thr977=)
c.2928G>C (p.Thr976=)
c.2910G>C (p.Thr970=)
c.2853G>C (p.Thr951=)
c.2787G>C (p.Thr929=)
c.1353G>C (p.Thr451=)
c.705G>C (p.Thr235=)
c.492G>C (p.Thr164=)
c.2766G>C (p.Thr922=)
c.2901G>C (p.Thr967=)
c.2907G>C (p.Thr969=)
c.2823G>C (p.Thr941=)
c.2751G>C (p.Thr917=)
c.2685G>C (p.Thr895=)
c.2046G>C (p.Thr682=)
c.2664G>C (p.Thr888=)
9g.137813060G=CA1884685684EHMT1c.2922G= (p.Thr974=)
c.2808G= (p.Thr936=)
c.2829G= (p.Thr943=)
c.2962G= (n.2962G=)
c.816G= (p.Thr272=)
c.1779G= (p.Thr593=)
c.609G=
n.448G=
c.2913G= (p.Thr971=)
c.2904G= (p.Thr968=)
c.2931G= (p.Thr977=)
c.2928G= (p.Thr976=)
c.2910G= (p.Thr970=)
c.2853G= (p.Thr951=)
c.2787G= (p.Thr929=)
c.1353G= (p.Thr451=)
c.705G= (p.Thr235=)
c.492G= (p.Thr164=)
c.2766G= (p.Thr922=)
c.2901G= (p.Thr967=)
c.2907G= (p.Thr969=)
c.2823G= (p.Thr941=)
c.2751G= (p.Thr917=)
c.2685G= (p.Thr895=)
c.2046G= (p.Thr682=)
c.2664G= (p.Thr888=)
9g.137813060G>TCA468161047EHMT1c.2922G>T (p.Thr974=)
c.2808G>T (p.Thr936=)
c.2829G>T (p.Thr943=)
c.2962G>T (n.2962G>T)
c.816G>T (p.Thr272=)
c.1779G>T (p.Thr593=)
c.609G>T
n.448G>T
c.2913G>T (p.Thr971=)
c.2904G>T (p.Thr968=)
c.2931G>T (p.Thr977=)
c.2928G>T (p.Thr976=)
c.2910G>T (p.Thr970=)
c.2853G>T (p.Thr951=)
c.2787G>T (p.Thr929=)
c.1353G>T (p.Thr451=)
c.705G>T (p.Thr235=)
c.492G>T (p.Thr164=)
c.2766G>T (p.Thr922=)
c.2901G>T (p.Thr967=)
c.2907G>T (p.Thr969=)
c.2823G>T (p.Thr941=)
c.2751G>T (p.Thr917=)
c.2685G>T (p.Thr895=)
c.2046G>T (p.Thr682=)
c.2664G>T (p.Thr888=)
 gnomAD v4
9g.137813061C>ACA375793371EHMT1c.2923C>A (p.Pro975Thr)
c.2809C>A (p.Pro937Thr)
c.2830C>A (p.Pro944Thr)
c.2963C>A (n.2963C>A)
c.817C>A (p.Pro273Thr)
c.1780C>A (p.Pro594Thr)
c.610C>A
n.449C>A
c.2914C>A (p.Pro972Thr)
c.2905C>A (p.Pro969Thr)
c.2932C>A (p.Pro978Thr)
c.2929C>A (p.Pro977Thr)
c.2911C>A (p.Pro971Thr)
c.2854C>A (p.Pro952Thr)
c.2788C>A (p.Pro930Thr)
c.1354C>A (p.Pro452Thr)
c.706C>A (p.Pro236Thr)
c.493C>A (p.Pro165Thr)
c.2767C>A (p.Pro923Thr)
c.2902C>A (p.Pro968Thr)
c.2908C>A (p.Pro970Thr)
c.2824C>A (p.Pro942Thr)
c.2752C>A (p.Pro918Thr)
c.2686C>A (p.Pro896Thr)
c.2047C>A (p.Pro683Thr)
c.2665C>A (p.Pro889Thr)
9g.137813061C>GCA375793372EHMT1c.2923C>G (p.Pro975Ala)
c.2809C>G (p.Pro937Ala)
c.2830C>G (p.Pro944Ala)
c.2963C>G (n.2963C>G)
c.817C>G (p.Pro273Ala)
c.1780C>G (p.Pro594Ala)
c.610C>G
n.449C>G
c.2914C>G (p.Pro972Ala)
c.2905C>G (p.Pro969Ala)
c.2932C>G (p.Pro978Ala)
c.2929C>G (p.Pro977Ala)
c.2911C>G (p.Pro971Ala)
c.2854C>G (p.Pro952Ala)
c.2788C>G (p.Pro930Ala)
c.1354C>G (p.Pro452Ala)
c.706C>G (p.Pro236Ala)
c.493C>G (p.Pro165Ala)
c.2767C>G (p.Pro923Ala)
c.2902C>G (p.Pro968Ala)
c.2908C>G (p.Pro970Ala)
c.2824C>G (p.Pro942Ala)
c.2752C>G (p.Pro918Ala)
c.2686C>G (p.Pro896Ala)
c.2047C>G (p.Pro683Ala)
c.2665C>G (p.Pro889Ala)
 ClinVar gnomAD v4
9g.137813061C>TCA375793373EHMT1c.2923C>T (p.Pro975Ser)
c.2809C>T (p.Pro937Ser)
c.2830C>T (p.Pro944Ser)
c.2963C>T (n.2963C>T)
c.817C>T (p.Pro273Ser)
c.1780C>T (p.Pro594Ser)
c.610C>T
n.449C>T
c.2914C>T (p.Pro972Ser)
c.2905C>T (p.Pro969Ser)
c.2932C>T (p.Pro978Ser)
c.2929C>T (p.Pro977Ser)
c.2911C>T (p.Pro971Ser)
c.2854C>T (p.Pro952Ser)
c.2788C>T (p.Pro930Ser)
c.1354C>T (p.Pro452Ser)
c.706C>T (p.Pro236Ser)
c.493C>T (p.Pro165Ser)
c.2767C>T (p.Pro923Ser)
c.2902C>T (p.Pro968Ser)
c.2908C>T (p.Pro970Ser)
c.2824C>T (p.Pro942Ser)
c.2752C>T (p.Pro918Ser)
c.2686C>T (p.Pro896Ser)
c.2047C>T (p.Pro683Ser)
c.2665C>T (p.Pro889Ser)
 gnomAD v4
9g.137813062C>ACA375793374EHMT1c.2924C>A (p.Pro975His)
c.2810C>A (p.Pro937His)
c.2831C>A (p.Pro944His)
c.2964C>A (n.2964C>A)
c.818C>A (p.Pro273His)
c.1781C>A (p.Pro594His)
c.611C>A
n.450C>A
c.2915C>A (p.Pro972His)
c.2906C>A (p.Pro969His)
c.2933C>A (p.Pro978His)
c.2930C>A (p.Pro977His)
c.2912C>A (p.Pro971His)
c.2855C>A (p.Pro952His)
c.2789C>A (p.Pro930His)
c.1355C>A (p.Pro452His)
c.707C>A (p.Pro236His)
c.494C>A (p.Pro165His)
c.2768C>A (p.Pro923His)
c.2903C>A (p.Pro968His)
c.2909C>A (p.Pro970His)
c.2825C>A (p.Pro942His)
c.2753C>A (p.Pro918His)
c.2687C>A (p.Pro896His)
c.2048C>A (p.Pro683His)
c.2666C>A (p.Pro889His)
9g.137813062C>GCA375793375EHMT1c.2924C>G (p.Pro975Arg)
c.2810C>G (p.Pro937Arg)
c.2831C>G (p.Pro944Arg)
c.2964C>G (n.2964C>G)
c.818C>G (p.Pro273Arg)
c.1781C>G (p.Pro594Arg)
c.611C>G
n.450C>G
c.2915C>G (p.Pro972Arg)
c.2906C>G (p.Pro969Arg)
c.2933C>G (p.Pro978Arg)
c.2930C>G (p.Pro977Arg)
c.2912C>G (p.Pro971Arg)
c.2855C>G (p.Pro952Arg)
c.2789C>G (p.Pro930Arg)
c.1355C>G (p.Pro452Arg)
c.707C>G (p.Pro236Arg)
c.494C>G (p.Pro165Arg)
c.2768C>G (p.Pro923Arg)
c.2903C>G (p.Pro968Arg)
c.2909C>G (p.Pro970Arg)
c.2825C>G (p.Pro942Arg)
c.2753C>G (p.Pro918Arg)
c.2687C>G (p.Pro896Arg)
c.2048C>G (p.Pro683Arg)
c.2666C>G (p.Pro889Arg)
9g.137813062C>TCA375793376EHMT1c.2924C>T (p.Pro975Leu)
c.2810C>T (p.Pro937Leu)
c.2831C>T (p.Pro944Leu)
c.2964C>T (n.2964C>T)
c.818C>T (p.Pro273Leu)
c.1781C>T (p.Pro594Leu)
c.611C>T
n.450C>T
c.2915C>T (p.Pro972Leu)
c.2906C>T (p.Pro969Leu)
c.2933C>T (p.Pro978Leu)
c.2930C>T (p.Pro977Leu)
c.2912C>T (p.Pro971Leu)
c.2855C>T (p.Pro952Leu)
c.2789C>T (p.Pro930Leu)
c.1355C>T (p.Pro452Leu)
c.707C>T (p.Pro236Leu)
c.494C>T (p.Pro165Leu)
c.2768C>T (p.Pro923Leu)
c.2903C>T (p.Pro968Leu)
c.2909C>T (p.Pro970Leu)
c.2825C>T (p.Pro942Leu)
c.2753C>T (p.Pro918Leu)
c.2687C>T (p.Pro896Leu)
c.2048C>T (p.Pro683Leu)
c.2666C>T (p.Pro889Leu)
9g.137813063C>ACA468161048EHMT1c.2925C>A (p.Pro975=)
c.2811C>A (p.Pro937=)
c.2832C>A (p.Pro944=)
c.2965C>A (n.2965C>A)
c.819C>A (p.Pro273=)
c.1782C>A (p.Pro594=)
c.612C>A
n.451C>A
c.2916C>A (p.Pro972=)
c.2907C>A (p.Pro969=)
c.2934C>A (p.Pro978=)
c.2931C>A (p.Pro977=)
c.2913C>A (p.Pro971=)
c.2856C>A (p.Pro952=)
c.2790C>A (p.Pro930=)
c.1356C>A (p.Pro452=)
c.708C>A (p.Pro236=)
c.495C>A (p.Pro165=)
c.2769C>A (p.Pro923=)
c.2904C>A (p.Pro968=)
c.2910C>A (p.Pro970=)
c.2826C>A (p.Pro942=)
c.2754C>A (p.Pro918=)
c.2688C>A (p.Pro896=)
c.2049C>A (p.Pro683=)
c.2667C>A (p.Pro889=)
9g.137813063C=CA1884685685EHMT1c.2925C= (p.Pro975=)
c.2811C= (p.Pro937=)
c.2832C= (p.Pro944=)
c.2965C= (n.2965C=)
c.819C= (p.Pro273=)
c.1782C= (p.Pro594=)
c.612C=
n.451C=
c.2916C= (p.Pro972=)
c.2907C= (p.Pro969=)
c.2934C= (p.Pro978=)
c.2931C= (p.Pro977=)
c.2913C= (p.Pro971=)
c.2856C= (p.Pro952=)
c.2790C= (p.Pro930=)
c.1356C= (p.Pro452=)
c.708C= (p.Pro236=)
c.495C= (p.Pro165=)
c.2769C= (p.Pro923=)
c.2904C= (p.Pro968=)
c.2910C= (p.Pro970=)
c.2826C= (p.Pro942=)
c.2754C= (p.Pro918=)
c.2688C= (p.Pro896=)
c.2049C= (p.Pro683=)
c.2667C= (p.Pro889=)
9g.137813063C>GCA468161049EHMT1c.2925C>G (p.Pro975=)
c.2811C>G (p.Pro937=)
c.2832C>G (p.Pro944=)
c.2965C>G (n.2965C>G)
c.819C>G (p.Pro273=)
c.1782C>G (p.Pro594=)
c.612C>G
n.451C>G
c.2916C>G (p.Pro972=)
c.2907C>G (p.Pro969=)
c.2934C>G (p.Pro978=)
c.2931C>G (p.Pro977=)
c.2913C>G (p.Pro971=)
c.2856C>G (p.Pro952=)
c.2790C>G (p.Pro930=)
c.1356C>G (p.Pro452=)
c.708C>G (p.Pro236=)
c.495C>G (p.Pro165=)
c.2769C>G (p.Pro923=)
c.2904C>G (p.Pro968=)
c.2910C>G (p.Pro970=)
c.2826C>G (p.Pro942=)
c.2754C>G (p.Pro918=)
c.2688C>G (p.Pro896=)
c.2049C>G (p.Pro683=)
c.2667C>G (p.Pro889=)
9g.137813063C>TCA5375104EHMT1c.2925C>T (p.Pro975=)
c.2811C>T (p.Pro937=)
c.2832C>T (p.Pro944=)
c.2965C>T (n.2965C>T)
c.819C>T (p.Pro273=)
c.1782C>T (p.Pro594=)
c.612C>T
n.451C>T
c.2916C>T (p.Pro972=)
c.2907C>T (p.Pro969=)
c.2934C>T (p.Pro978=)
c.2931C>T (p.Pro977=)
c.2913C>T (p.Pro971=)
c.2856C>T (p.Pro952=)
c.2790C>T (p.Pro930=)
c.1356C>T (p.Pro452=)
c.708C>T (p.Pro236=)
c.495C>T (p.Pro165=)
c.2769C>T (p.Pro923=)
c.2904C>T (p.Pro968=)
c.2910C>T (p.Pro970=)
c.2826C>T (p.Pro942=)
c.2754C>T (p.Pro918=)
c.2688C>T (p.Pro896=)
c.2049C>T (p.Pro683=)
c.2667C>T (p.Pro889=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813064C>ACA375793377EHMT1c.2926C>A (p.Leu976Met)
c.2812C>A (p.Leu938Met)
c.2833C>A (p.Leu945Met)
c.2966C>A (n.2966C>A)
c.820C>A (p.Leu274Met)
c.1783C>A (p.Leu595Met)
c.613C>A
n.452C>A
c.2917C>A (p.Leu973Met)
c.2908C>A (p.Leu970Met)
c.2935C>A (p.Leu979Met)
c.2932C>A (p.Leu978Met)
c.2914C>A (p.Leu972Met)
c.2857C>A (p.Leu953Met)
c.2791C>A (p.Leu931Met)
c.1357C>A (p.Leu453Met)
c.709C>A (p.Leu237Met)
c.496C>A (p.Leu166Met)
c.2770C>A (p.Leu924Met)
c.2905C>A (p.Leu969Met)
c.2911C>A (p.Leu971Met)
c.2827C>A (p.Leu943Met)
c.2755C>A (p.Leu919Met)
c.2689C>A (p.Leu897Met)
c.2050C>A (p.Leu684Met)
c.2668C>A (p.Leu890Met)
9g.137813064C>GCA375793378EHMT1c.2926C>G (p.Leu976Val)
c.2812C>G (p.Leu938Val)
c.2833C>G (p.Leu945Val)
c.2966C>G (n.2966C>G)
c.820C>G (p.Leu274Val)
c.1783C>G (p.Leu595Val)
c.613C>G
n.452C>G
c.2917C>G (p.Leu973Val)
c.2908C>G (p.Leu970Val)
c.2935C>G (p.Leu979Val)
c.2932C>G (p.Leu978Val)
c.2914C>G (p.Leu972Val)
c.2857C>G (p.Leu953Val)
c.2791C>G (p.Leu931Val)
c.1357C>G (p.Leu453Val)
c.709C>G (p.Leu237Val)
c.496C>G (p.Leu166Val)
c.2770C>G (p.Leu924Val)
c.2905C>G (p.Leu969Val)
c.2911C>G (p.Leu971Val)
c.2827C>G (p.Leu943Val)
c.2755C>G (p.Leu919Val)
c.2689C>G (p.Leu897Val)
c.2050C>G (p.Leu684Val)
c.2668C>G (p.Leu890Val)
9g.137813064C>TCA468161050EHMT1c.2926C>T (p.Leu976=)
c.2812C>T (p.Leu938=)
c.2833C>T (p.Leu945=)
c.2966C>T (n.2966C>T)
c.820C>T (p.Leu274=)
c.1783C>T (p.Leu595=)
c.613C>T
n.452C>T
c.2917C>T (p.Leu973=)
c.2908C>T (p.Leu970=)
c.2935C>T (p.Leu979=)
c.2932C>T (p.Leu978=)
c.2914C>T (p.Leu972=)
c.2857C>T (p.Leu953=)
c.2791C>T (p.Leu931=)
c.1357C>T (p.Leu453=)
c.709C>T (p.Leu237=)
c.496C>T (p.Leu166=)
c.2770C>T (p.Leu924=)
c.2905C>T (p.Leu969=)
c.2911C>T (p.Leu971=)
c.2827C>T (p.Leu943=)
c.2755C>T (p.Leu919=)
c.2689C>T (p.Leu897=)
c.2050C>T (p.Leu684=)
c.2668C>T (p.Leu890=)
9g.137813065T>ACA375793381EHMT1c.2927T>A (p.Leu976Gln)
c.2813T>A (p.Leu938Gln)
c.2834T>A (p.Leu945Gln)
c.2967T>A (n.2967T>A)
c.821T>A (p.Leu274Gln)
c.1784T>A (p.Leu595Gln)
c.614T>A
n.453T>A
c.2918T>A (p.Leu973Gln)
c.2909T>A (p.Leu970Gln)
c.2936T>A (p.Leu979Gln)
c.2933T>A (p.Leu978Gln)
c.2915T>A (p.Leu972Gln)
c.2858T>A (p.Leu953Gln)
c.2792T>A (p.Leu931Gln)
c.1358T>A (p.Leu453Gln)
c.710T>A (p.Leu237Gln)
c.497T>A (p.Leu166Gln)
c.2771T>A (p.Leu924Gln)
c.2906T>A (p.Leu969Gln)
c.2912T>A (p.Leu971Gln)
c.2828T>A (p.Leu943Gln)
c.2756T>A (p.Leu919Gln)
c.2690T>A (p.Leu897Gln)
c.2051T>A (p.Leu684Gln)
c.2669T>A (p.Leu890Gln)
9g.137813065T>CCA375793379EHMT1c.2927T>C (p.Leu976Pro)
c.2813T>C (p.Leu938Pro)
c.2834T>C (p.Leu945Pro)
c.2967T>C (n.2967T>C)
c.821T>C (p.Leu274Pro)
c.1784T>C (p.Leu595Pro)
c.614T>C
n.453T>C
c.2918T>C (p.Leu973Pro)
c.2909T>C (p.Leu970Pro)
c.2936T>C (p.Leu979Pro)
c.2933T>C (p.Leu978Pro)
c.2915T>C (p.Leu972Pro)
c.2858T>C (p.Leu953Pro)
c.2792T>C (p.Leu931Pro)
c.1358T>C (p.Leu453Pro)
c.710T>C (p.Leu237Pro)
c.497T>C (p.Leu166Pro)
c.2771T>C (p.Leu924Pro)
c.2906T>C (p.Leu969Pro)
c.2912T>C (p.Leu971Pro)
c.2828T>C (p.Leu943Pro)
c.2756T>C (p.Leu919Pro)
c.2690T>C (p.Leu897Pro)
c.2051T>C (p.Leu684Pro)
c.2669T>C (p.Leu890Pro)
 ClinVar
9g.137813065T>GCA5375105EHMT1c.2927T>G (p.Leu976Arg)
c.2813T>G (p.Leu938Arg)
c.2834T>G (p.Leu945Arg)
c.2967T>G (n.2967T>G)
c.821T>G (p.Leu274Arg)
c.1784T>G (p.Leu595Arg)
c.614T>G
n.453T>G
c.2918T>G (p.Leu973Arg)
c.2909T>G (p.Leu970Arg)
c.2936T>G (p.Leu979Arg)
c.2933T>G (p.Leu978Arg)
c.2915T>G (p.Leu972Arg)
c.2858T>G (p.Leu953Arg)
c.2792T>G (p.Leu931Arg)
c.1358T>G (p.Leu453Arg)
c.710T>G (p.Leu237Arg)
c.497T>G (p.Leu166Arg)
c.2771T>G (p.Leu924Arg)
c.2906T>G (p.Leu969Arg)
c.2912T>G (p.Leu971Arg)
c.2828T>G (p.Leu943Arg)
c.2756T>G (p.Leu919Arg)
c.2690T>G (p.Leu897Arg)
c.2051T>G (p.Leu684Arg)
c.2669T>G (p.Leu890Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813065T=CA1884685686EHMT1c.2927T= (p.Leu976=)
c.2813T= (p.Leu938=)
c.2834T= (p.Leu945=)
c.2967T= (n.2967T=)
c.821T= (p.Leu274=)
c.1784T= (p.Leu595=)
c.614T=
n.453T=
c.2918T= (p.Leu973=)
c.2909T= (p.Leu970=)
c.2936T= (p.Leu979=)
c.2933T= (p.Leu978=)
c.2915T= (p.Leu972=)
c.2858T= (p.Leu953=)
c.2792T= (p.Leu931=)
c.1358T= (p.Leu453=)
c.710T= (p.Leu237=)
c.497T= (p.Leu166=)
c.2771T= (p.Leu924=)
c.2906T= (p.Leu969=)
c.2912T= (p.Leu971=)
c.2828T= (p.Leu943=)
c.2756T= (p.Leu919=)
c.2690T= (p.Leu897=)
c.2051T= (p.Leu684=)
c.2669T= (p.Leu890=)
9g.137813066G>ACA468161051EHMT1c.2928G>A (p.Leu976=)
c.2814G>A (p.Leu938=)
c.2835G>A (p.Leu945=)
c.2968G>A (n.2968G>A)
c.822G>A (p.Leu274=)
c.1785G>A (p.Leu595=)
c.615G>A
n.454G>A
c.2919G>A (p.Leu973=)
c.2910G>A (p.Leu970=)
c.2937G>A (p.Leu979=)
c.2934G>A (p.Leu978=)
c.2916G>A (p.Leu972=)
c.2859G>A (p.Leu953=)
c.2793G>A (p.Leu931=)
c.1359G>A (p.Leu453=)
c.711G>A (p.Leu237=)
c.498G>A (p.Leu166=)
c.2772G>A (p.Leu924=)
c.2907G>A (p.Leu969=)
c.2913G>A (p.Leu971=)
c.2829G>A (p.Leu943=)
c.2757G>A (p.Leu919=)
c.2691G>A (p.Leu897=)
c.2052G>A (p.Leu684=)
c.2670G>A (p.Leu890=)
9g.137813066G>CCA468161052EHMT1c.2928G>C (p.Leu976=)
c.2814G>C (p.Leu938=)
c.2835G>C (p.Leu945=)
c.2968G>C (n.2968G>C)
c.822G>C (p.Leu274=)
c.1785G>C (p.Leu595=)
c.615G>C
n.454G>C
c.2919G>C (p.Leu973=)
c.2910G>C (p.Leu970=)
c.2937G>C (p.Leu979=)
c.2934G>C (p.Leu978=)
c.2916G>C (p.Leu972=)
c.2859G>C (p.Leu953=)
c.2793G>C (p.Leu931=)
c.1359G>C (p.Leu453=)
c.711G>C (p.Leu237=)
c.498G>C (p.Leu166=)
c.2772G>C (p.Leu924=)
c.2907G>C (p.Leu969=)
c.2913G>C (p.Leu971=)
c.2829G>C (p.Leu943=)
c.2757G>C (p.Leu919=)
c.2691G>C (p.Leu897=)
c.2052G>C (p.Leu684=)
c.2670G>C (p.Leu890=)
9g.137813066G>TCA468161053EHMT1c.2928G>T (p.Leu976=)
c.2814G>T (p.Leu938=)
c.2835G>T (p.Leu945=)
c.2968G>T (n.2968G>T)
c.822G>T (p.Leu274=)
c.1785G>T (p.Leu595=)
c.615G>T
n.454G>T
c.2919G>T (p.Leu973=)
c.2910G>T (p.Leu970=)
c.2937G>T (p.Leu979=)
c.2934G>T (p.Leu978=)
c.2916G>T (p.Leu972=)
c.2859G>T (p.Leu953=)
c.2793G>T (p.Leu931=)
c.1359G>T (p.Leu453=)
c.711G>T (p.Leu237=)
c.498G>T (p.Leu166=)
c.2772G>T (p.Leu924=)
c.2907G>T (p.Leu969=)
c.2913G>T (p.Leu971=)
c.2829G>T (p.Leu943=)
c.2757G>T (p.Leu919=)
c.2691G>T (p.Leu897=)
c.2052G>T (p.Leu684=)
c.2670G>T (p.Leu890=)
9g.137813067C>ACA375793384EHMT1c.2929C>A (p.Gln977Lys)
c.2815C>A (p.Gln939Lys)
c.2836C>A (p.Gln946Lys)
c.2969C>A (n.2969C>A)
c.823C>A (p.Gln275Lys)
c.1786C>A (p.Gln596Lys)
c.616C>A
n.455C>A
c.2920C>A (p.Gln974Lys)
c.2911C>A (p.Gln971Lys)
c.2938C>A (p.Gln980Lys)
c.2935C>A (p.Gln979Lys)
c.2917C>A (p.Gln973Lys)
c.2860C>A (p.Gln954Lys)
c.2794C>A (p.Gln932Lys)
c.1360C>A (p.Gln454Lys)
c.712C>A (p.Gln238Lys)
c.499C>A (p.Gln167Lys)
c.2773C>A (p.Gln925Lys)
c.2908C>A (p.Gln970Lys)
c.2914C>A (p.Gln972Lys)
c.2830C>A (p.Gln944Lys)
c.2758C>A (p.Gln920Lys)
c.2692C>A (p.Gln898Lys)
c.2053C>A (p.Gln685Lys)
c.2671C>A (p.Gln891Lys)
9g.137813067C>GCA375793387EHMT1c.2929C>G (p.Gln977Glu)
c.2815C>G (p.Gln939Glu)
c.2836C>G (p.Gln946Glu)
c.2969C>G (n.2969C>G)
c.823C>G (p.Gln275Glu)
c.1786C>G (p.Gln596Glu)
c.616C>G
n.455C>G
c.2920C>G (p.Gln974Glu)
c.2911C>G (p.Gln971Glu)
c.2938C>G (p.Gln980Glu)
c.2935C>G (p.Gln979Glu)
c.2917C>G (p.Gln973Glu)
c.2860C>G (p.Gln954Glu)
c.2794C>G (p.Gln932Glu)
c.1360C>G (p.Gln454Glu)
c.712C>G (p.Gln238Glu)
c.499C>G (p.Gln167Glu)
c.2773C>G (p.Gln925Glu)
c.2908C>G (p.Gln970Glu)
c.2914C>G (p.Gln972Glu)
c.2830C>G (p.Gln944Glu)
c.2758C>G (p.Gln920Glu)
c.2692C>G (p.Gln898Glu)
c.2053C>G (p.Gln685Glu)
c.2671C>G (p.Gln891Glu)
9g.137813067C>TCA375793388EHMT1c.2929C>T (p.Gln977Ter)
c.2815C>T (p.Gln939Ter)
c.2836C>T (p.Gln946Ter)
c.2969C>T (n.2969C>T)
c.823C>T (p.Gln275Ter)
c.1786C>T (p.Gln596Ter)
c.616C>T
n.455C>T
c.2920C>T (p.Gln974Ter)
c.2911C>T (p.Gln971Ter)
c.2938C>T (p.Gln980Ter)
c.2935C>T (p.Gln979Ter)
c.2917C>T (p.Gln973Ter)
c.2860C>T (p.Gln954Ter)
c.2794C>T (p.Gln932Ter)
c.1360C>T (p.Gln454Ter)
c.712C>T (p.Gln238Ter)
c.499C>T (p.Gln167Ter)
c.2773C>T (p.Gln925Ter)
c.2908C>T (p.Gln970Ter)
c.2914C>T (p.Gln972Ter)
c.2830C>T (p.Gln944Ter)
c.2758C>T (p.Gln920Ter)
c.2692C>T (p.Gln898Ter)
c.2053C>T (p.Gln685Ter)
c.2671C>T (p.Gln891Ter)
 ClinVar dbSNP
9g.137813068A=CA1884685687EHMT1c.2930A= (p.Gln977=)
c.2816A= (p.Gln939=)
c.2837A= (p.Gln946=)
c.2970A= (n.2970A=)
c.824A= (p.Gln275=)
c.1787A= (p.Gln596=)
c.617A=
n.456A=
c.2921A= (p.Gln974=)
c.2912A= (p.Gln971=)
c.2939A= (p.Gln980=)
c.2936A= (p.Gln979=)
c.2918A= (p.Gln973=)
c.2861A= (p.Gln954=)
c.2795A= (p.Gln932=)
c.1361A= (p.Gln454=)
c.713A= (p.Gln238=)
c.500A= (p.Gln167=)
c.2774A= (p.Gln925=)
c.2909A= (p.Gln970=)
c.2915A= (p.Gln972=)
c.2831A= (p.Gln944=)
c.2759A= (p.Gln920=)
c.2693A= (p.Gln898=)
c.2054A= (p.Gln685=)
c.2672A= (p.Gln891=)
9g.137813068A>CCA375793391EHMT1c.2930A>C (p.Gln977Pro)
c.2816A>C (p.Gln939Pro)
c.2837A>C (p.Gln946Pro)
c.2970A>C (n.2970A>C)
c.824A>C (p.Gln275Pro)
c.1787A>C (p.Gln596Pro)
c.617A>C
n.456A>C
c.2921A>C (p.Gln974Pro)
c.2912A>C (p.Gln971Pro)
c.2939A>C (p.Gln980Pro)
c.2936A>C (p.Gln979Pro)
c.2918A>C (p.Gln973Pro)
c.2861A>C (p.Gln954Pro)
c.2795A>C (p.Gln932Pro)
c.1361A>C (p.Gln454Pro)
c.713A>C (p.Gln238Pro)
c.500A>C (p.Gln167Pro)
c.2774A>C (p.Gln925Pro)
c.2909A>C (p.Gln970Pro)
c.2915A>C (p.Gln972Pro)
c.2831A>C (p.Gln944Pro)
c.2759A>C (p.Gln920Pro)
c.2693A>C (p.Gln898Pro)
c.2054A>C (p.Gln685Pro)
c.2672A>C (p.Gln891Pro)
9g.137813068A>GCA375793393EHMT1c.2930A>G (p.Gln977Arg)
c.2816A>G (p.Gln939Arg)
c.2837A>G (p.Gln946Arg)
c.2970A>G (n.2970A>G)
c.824A>G (p.Gln275Arg)
c.1787A>G (p.Gln596Arg)
c.617A>G
n.456A>G
c.2921A>G (p.Gln974Arg)
c.2912A>G (p.Gln971Arg)
c.2939A>G (p.Gln980Arg)
c.2936A>G (p.Gln979Arg)
c.2918A>G (p.Gln973Arg)
c.2861A>G (p.Gln954Arg)
c.2795A>G (p.Gln932Arg)
c.1361A>G (p.Gln454Arg)
c.713A>G (p.Gln238Arg)
c.500A>G (p.Gln167Arg)
c.2774A>G (p.Gln925Arg)
c.2909A>G (p.Gln970Arg)
c.2915A>G (p.Gln972Arg)
c.2831A>G (p.Gln944Arg)
c.2759A>G (p.Gln920Arg)
c.2693A>G (p.Gln898Arg)
c.2054A>G (p.Gln685Arg)
c.2672A>G (p.Gln891Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813068A>TCA375793395EHMT1c.2930A>T (p.Gln977Leu)
c.2816A>T (p.Gln939Leu)
c.2837A>T (p.Gln946Leu)
c.2970A>T (n.2970A>T)
c.824A>T (p.Gln275Leu)
c.1787A>T (p.Gln596Leu)
c.617A>T
n.456A>T
c.2921A>T (p.Gln974Leu)
c.2912A>T (p.Gln971Leu)
c.2939A>T (p.Gln980Leu)
c.2936A>T (p.Gln979Leu)
c.2918A>T (p.Gln973Leu)
c.2861A>T (p.Gln954Leu)
c.2795A>T (p.Gln932Leu)
c.1361A>T (p.Gln454Leu)
c.713A>T (p.Gln238Leu)
c.500A>T (p.Gln167Leu)
c.2774A>T (p.Gln925Leu)
c.2909A>T (p.Gln970Leu)
c.2915A>T (p.Gln972Leu)
c.2831A>T (p.Gln944Leu)
c.2759A>T (p.Gln920Leu)
c.2693A>T (p.Gln898Leu)
c.2054A>T (p.Gln685Leu)
c.2672A>T (p.Gln891Leu)
9g.137813069G>ACA468161054EHMT1c.2931G>A (p.Gln977=)
c.2817G>A (p.Gln939=)
c.2838G>A (p.Gln946=)
c.2971G>A (n.2971G>A)
c.825G>A (p.Gln275=)
c.1788G>A (p.Gln596=)
c.618G>A
n.457G>A
c.2922G>A (p.Gln974=)
c.2913G>A (p.Gln971=)
c.2940G>A (p.Gln980=)
c.2937G>A (p.Gln979=)
c.2919G>A (p.Gln973=)
c.2862G>A (p.Gln954=)
c.2796G>A (p.Gln932=)
c.1362G>A (p.Gln454=)
c.714G>A (p.Gln238=)
c.501G>A (p.Gln167=)
c.2775G>A (p.Gln925=)
c.2910G>A (p.Gln970=)
c.2916G>A (p.Gln972=)
c.2832G>A (p.Gln944=)
c.2760G>A (p.Gln920=)
c.2694G>A (p.Gln898=)
c.2055G>A (p.Gln685=)
c.2673G>A (p.Gln891=)
 ClinVar dbSNP gnomAD v4
9g.137813069G>CCA375793396EHMT1c.2931G>C (p.Gln977His)
c.2817G>C (p.Gln939His)
c.2838G>C (p.Gln946His)
c.2971G>C (n.2971G>C)
c.825G>C (p.Gln275His)
c.1788G>C (p.Gln596His)
c.618G>C
n.457G>C
c.2922G>C (p.Gln974His)
c.2913G>C (p.Gln971His)
c.2940G>C (p.Gln980His)
c.2937G>C (p.Gln979His)
c.2919G>C (p.Gln973His)
c.2862G>C (p.Gln954His)
c.2796G>C (p.Gln932His)
c.1362G>C (p.Gln454His)
c.714G>C (p.Gln238His)
c.501G>C (p.Gln167His)
c.2775G>C (p.Gln925His)
c.2910G>C (p.Gln970His)
c.2916G>C (p.Gln972His)
c.2832G>C (p.Gln944His)
c.2760G>C (p.Gln920His)
c.2694G>C (p.Gln898His)
c.2055G>C (p.Gln685His)
c.2673G>C (p.Gln891His)
 dbSNP gnomAD v2 gnomAD v4
9g.137813069G=CA1884685688EHMT1c.2931G= (p.Gln977=)
c.2817G= (p.Gln939=)
c.2838G= (p.Gln946=)
c.2971G= (n.2971G=)
c.825G= (p.Gln275=)
c.1788G= (p.Gln596=)
c.618G=
n.457G=
c.2922G= (p.Gln974=)
c.2913G= (p.Gln971=)
c.2940G= (p.Gln980=)
c.2937G= (p.Gln979=)
c.2919G= (p.Gln973=)
c.2862G= (p.Gln954=)
c.2796G= (p.Gln932=)
c.1362G= (p.Gln454=)
c.714G= (p.Gln238=)
c.501G= (p.Gln167=)
c.2775G= (p.Gln925=)
c.2910G= (p.Gln970=)
c.2916G= (p.Gln972=)
c.2832G= (p.Gln944=)
c.2760G= (p.Gln920=)
c.2694G= (p.Gln898=)
c.2055G= (p.Gln685=)
c.2673G= (p.Gln891=)
9g.137813069G>TCA375793398EHMT1c.2931G>T (p.Gln977His)
c.2817G>T (p.Gln939His)
c.2838G>T (p.Gln946His)
c.2971G>T (n.2971G>T)
c.825G>T (p.Gln275His)
c.1788G>T (p.Gln596His)
c.618G>T
n.457G>T
c.2922G>T (p.Gln974His)
c.2913G>T (p.Gln971His)
c.2940G>T (p.Gln980His)
c.2937G>T (p.Gln979His)
c.2919G>T (p.Gln973His)
c.2862G>T (p.Gln954His)
c.2796G>T (p.Gln932His)
c.1362G>T (p.Gln454His)
c.714G>T (p.Gln238His)
c.501G>T (p.Gln167His)
c.2775G>T (p.Gln925His)
c.2910G>T (p.Gln970His)
c.2916G>T (p.Gln972His)
c.2832G>T (p.Gln944His)
c.2760G>T (p.Gln920His)
c.2694G>T (p.Gln898His)
c.2055G>T (p.Gln685His)
c.2673G>T (p.Gln891His)
9g.137813070T>ACA375793400EHMT1c.2932T>A (p.Cys978Ser)
c.2818T>A (p.Cys940Ser)
c.2839T>A (p.Cys947Ser)
c.2972T>A (n.2972T>A)
c.826T>A (p.Cys276Ser)
c.1789T>A (p.Cys597Ser)
c.619T>A
n.458T>A
c.2923T>A (p.Cys975Ser)
c.2914T>A (p.Cys972Ser)
c.2941T>A (p.Cys981Ser)
c.2938T>A (p.Cys980Ser)
c.2920T>A (p.Cys974Ser)
c.2863T>A (p.Cys955Ser)
c.2797T>A (p.Cys933Ser)
c.1363T>A (p.Cys455Ser)
c.715T>A (p.Cys239Ser)
c.502T>A (p.Cys168Ser)
c.2776T>A (p.Cys926Ser)
c.2911T>A (p.Cys971Ser)
c.2917T>A (p.Cys973Ser)
c.2833T>A (p.Cys945Ser)
c.2761T>A (p.Cys921Ser)
c.2695T>A (p.Cys899Ser)
c.2056T>A (p.Cys686Ser)
c.2674T>A (p.Cys892Ser)
9g.137813070T>CCA375793402EHMT1c.2932T>C (p.Cys978Arg)
c.2818T>C (p.Cys940Arg)
c.2839T>C (p.Cys947Arg)
c.2972T>C (n.2972T>C)
c.826T>C (p.Cys276Arg)
c.1789T>C (p.Cys597Arg)
c.619T>C
n.458T>C
c.2923T>C (p.Cys975Arg)
c.2914T>C (p.Cys972Arg)
c.2941T>C (p.Cys981Arg)
c.2938T>C (p.Cys980Arg)
c.2920T>C (p.Cys974Arg)
c.2863T>C (p.Cys955Arg)
c.2797T>C (p.Cys933Arg)
c.1363T>C (p.Cys455Arg)
c.715T>C (p.Cys239Arg)
c.502T>C (p.Cys168Arg)
c.2776T>C (p.Cys926Arg)
c.2911T>C (p.Cys971Arg)
c.2917T>C (p.Cys973Arg)
c.2833T>C (p.Cys945Arg)
c.2761T>C (p.Cys921Arg)
c.2695T>C (p.Cys899Arg)
c.2056T>C (p.Cys686Arg)
c.2674T>C (p.Cys892Arg)
9g.137813070T>GCA375793404EHMT1c.2932T>G (p.Cys978Gly)
c.2818T>G (p.Cys940Gly)
c.2839T>G (p.Cys947Gly)
c.2972T>G (n.2972T>G)
c.826T>G (p.Cys276Gly)
c.1789T>G (p.Cys597Gly)
c.619T>G
n.458T>G
c.2923T>G (p.Cys975Gly)
c.2914T>G (p.Cys972Gly)
c.2941T>G (p.Cys981Gly)
c.2938T>G (p.Cys980Gly)
c.2920T>G (p.Cys974Gly)
c.2863T>G (p.Cys955Gly)
c.2797T>G (p.Cys933Gly)
c.1363T>G (p.Cys455Gly)
c.715T>G (p.Cys239Gly)
c.502T>G (p.Cys168Gly)
c.2776T>G (p.Cys926Gly)
c.2911T>G (p.Cys971Gly)
c.2917T>G (p.Cys973Gly)
c.2833T>G (p.Cys945Gly)
c.2761T>G (p.Cys921Gly)
c.2695T>G (p.Cys899Gly)
c.2056T>G (p.Cys686Gly)
c.2674T>G (p.Cys892Gly)
9g.137813071G>ACA375793406EHMT1c.2933G>A (p.Cys978Tyr)
c.2819G>A (p.Cys940Tyr)
c.2840G>A (p.Cys947Tyr)
c.2973G>A (n.2973G>A)
c.827G>A (p.Cys276Tyr)
c.1790G>A (p.Cys597Tyr)
c.620G>A
n.459G>A
c.2924G>A (p.Cys975Tyr)
c.2915G>A (p.Cys972Tyr)
c.2942G>A (p.Cys981Tyr)
c.2939G>A (p.Cys980Tyr)
c.2921G>A (p.Cys974Tyr)
c.2864G>A (p.Cys955Tyr)
c.2798G>A (p.Cys933Tyr)
c.1364G>A (p.Cys455Tyr)
c.716G>A (p.Cys239Tyr)
c.503G>A (p.Cys168Tyr)
c.2777G>A (p.Cys926Tyr)
c.2912G>A (p.Cys971Tyr)
c.2918G>A (p.Cys973Tyr)
c.2834G>A (p.Cys945Tyr)
c.2762G>A (p.Cys921Tyr)
c.2696G>A (p.Cys899Tyr)
c.2057G>A (p.Cys686Tyr)
c.2675G>A (p.Cys892Tyr)
9g.137813071G>CCA375793411EHMT1c.2933G>C (p.Cys978Ser)
c.2819G>C (p.Cys940Ser)
c.2840G>C (p.Cys947Ser)
c.2973G>C (n.2973G>C)
c.827G>C (p.Cys276Ser)
c.1790G>C (p.Cys597Ser)
c.620G>C
n.459G>C
c.2924G>C (p.Cys975Ser)
c.2915G>C (p.Cys972Ser)
c.2942G>C (p.Cys981Ser)
c.2939G>C (p.Cys980Ser)
c.2921G>C (p.Cys974Ser)
c.2864G>C (p.Cys955Ser)
c.2798G>C (p.Cys933Ser)
c.1364G>C (p.Cys455Ser)
c.716G>C (p.Cys239Ser)
c.503G>C (p.Cys168Ser)
c.2777G>C (p.Cys926Ser)
c.2912G>C (p.Cys971Ser)
c.2918G>C (p.Cys973Ser)
c.2834G>C (p.Cys945Ser)
c.2762G>C (p.Cys921Ser)
c.2696G>C (p.Cys899Ser)
c.2057G>C (p.Cys686Ser)
c.2675G>C (p.Cys892Ser)
9g.137813071G>TCA375793407EHMT1c.2933G>T (p.Cys978Phe)
c.2819G>T (p.Cys940Phe)
c.2840G>T (p.Cys947Phe)
c.2973G>T (n.2973G>T)
c.827G>T (p.Cys276Phe)
c.1790G>T (p.Cys597Phe)
c.620G>T
n.459G>T
c.2924G>T (p.Cys975Phe)
c.2915G>T (p.Cys972Phe)
c.2942G>T (p.Cys981Phe)
c.2939G>T (p.Cys980Phe)
c.2921G>T (p.Cys974Phe)
c.2864G>T (p.Cys955Phe)
c.2798G>T (p.Cys933Phe)
c.1364G>T (p.Cys455Phe)
c.716G>T (p.Cys239Phe)
c.503G>T (p.Cys168Phe)
c.2777G>T (p.Cys926Phe)
c.2912G>T (p.Cys971Phe)
c.2918G>T (p.Cys973Phe)
c.2834G>T (p.Cys945Phe)
c.2762G>T (p.Cys921Phe)
c.2696G>T (p.Cys899Phe)
c.2057G>T (p.Cys686Phe)
c.2675G>T (p.Cys892Phe)
9g.137813072T>ACA375793413EHMT1c.2934T>A (p.Cys978Ter)
c.2820T>A (p.Cys940Ter)
c.2841T>A (p.Cys947Ter)
c.2974T>A (n.2974T>A)
c.828T>A (p.Cys276Ter)
c.1791T>A (p.Cys597Ter)
c.621T>A
n.460T>A
c.2925T>A (p.Cys975Ter)
c.2916T>A (p.Cys972Ter)
c.2943T>A (p.Cys981Ter)
c.2940T>A (p.Cys980Ter)
c.2922T>A (p.Cys974Ter)
c.2865T>A (p.Cys955Ter)
c.2799T>A (p.Cys933Ter)
c.1365T>A (p.Cys455Ter)
c.717T>A (p.Cys239Ter)
c.504T>A (p.Cys168Ter)
c.2778T>A (p.Cys926Ter)
c.2913T>A (p.Cys971Ter)
c.2919T>A (p.Cys973Ter)
c.2835T>A (p.Cys945Ter)
c.2763T>A (p.Cys921Ter)
c.2697T>A (p.Cys899Ter)
c.2058T>A (p.Cys686Ter)
c.2676T>A (p.Cys892Ter)
9g.137813072T>CCA468161055EHMT1c.2934T>C (p.Cys978=)
c.2820T>C (p.Cys940=)
c.2841T>C (p.Cys947=)
c.2974T>C (n.2974T>C)
c.828T>C (p.Cys276=)
c.1791T>C (p.Cys597=)
c.621T>C
n.460T>C
c.2925T>C (p.Cys975=)
c.2916T>C (p.Cys972=)
c.2943T>C (p.Cys981=)
c.2940T>C (p.Cys980=)
c.2922T>C (p.Cys974=)
c.2865T>C (p.Cys955=)
c.2799T>C (p.Cys933=)
c.1365T>C (p.Cys455=)
c.717T>C (p.Cys239=)
c.504T>C (p.Cys168=)
c.2778T>C (p.Cys926=)
c.2913T>C (p.Cys971=)
c.2919T>C (p.Cys973=)
c.2835T>C (p.Cys945=)
c.2763T>C (p.Cys921=)
c.2697T>C (p.Cys899=)
c.2058T>C (p.Cys686=)
c.2676T>C (p.Cys892=)
9g.137813072T>GCA375793415EHMT1c.2934T>G (p.Cys978Trp)
c.2820T>G (p.Cys940Trp)
c.2841T>G (p.Cys947Trp)
c.2974T>G (n.2974T>G)
c.828T>G (p.Cys276Trp)
c.1791T>G (p.Cys597Trp)
c.621T>G
n.460T>G
c.2925T>G (p.Cys975Trp)
c.2916T>G (p.Cys972Trp)
c.2943T>G (p.Cys981Trp)
c.2940T>G (p.Cys980Trp)
c.2922T>G (p.Cys974Trp)
c.2865T>G (p.Cys955Trp)
c.2799T>G (p.Cys933Trp)
c.1365T>G (p.Cys455Trp)
c.717T>G (p.Cys239Trp)
c.504T>G (p.Cys168Trp)
c.2778T>G (p.Cys926Trp)
c.2913T>G (p.Cys971Trp)
c.2919T>G (p.Cys973Trp)
c.2835T>G (p.Cys945Trp)
c.2763T>G (p.Cys921Trp)
c.2697T>G (p.Cys899Trp)
c.2058T>G (p.Cys686Trp)
c.2676T>G (p.Cys892Trp)
9g.137813073G>ACA375793417EHMT1c.2935G>A (p.Ala979Thr)
c.2821G>A (p.Ala941Thr)
c.2842G>A (p.Ala948Thr)
c.2975G>A (n.2975G>A)
c.829G>A (p.Ala277Thr)
c.1792G>A (p.Ala598Thr)
c.622G>A
n.461G>A
c.2926G>A (p.Ala976Thr)
c.2917G>A (p.Ala973Thr)
c.2944G>A (p.Ala982Thr)
c.2941G>A (p.Ala981Thr)
c.2923G>A (p.Ala975Thr)
c.2866G>A (p.Ala956Thr)
c.2800G>A (p.Ala934Thr)
c.1366G>A (p.Ala456Thr)
c.718G>A (p.Ala240Thr)
c.505G>A (p.Ala169Thr)
c.2779G>A (p.Ala927Thr)
c.2914G>A (p.Ala972Thr)
c.2920G>A (p.Ala974Thr)
c.2836G>A (p.Ala946Thr)
c.2764G>A (p.Ala922Thr)
c.2698G>A (p.Ala900Thr)
c.2059G>A (p.Ala687Thr)
c.2677G>A (p.Ala893Thr)
 gnomAD v4
9g.137813073G>CCA375793419EHMT1c.2935G>C (p.Ala979Pro)
c.2821G>C (p.Ala941Pro)
c.2842G>C (p.Ala948Pro)
c.2975G>C (n.2975G>C)
c.829G>C (p.Ala277Pro)
c.1792G>C (p.Ala598Pro)
c.622G>C
n.461G>C
c.2926G>C (p.Ala976Pro)
c.2917G>C (p.Ala973Pro)
c.2944G>C (p.Ala982Pro)
c.2941G>C (p.Ala981Pro)
c.2923G>C (p.Ala975Pro)
c.2866G>C (p.Ala956Pro)
c.2800G>C (p.Ala934Pro)
c.1366G>C (p.Ala456Pro)
c.718G>C (p.Ala240Pro)
c.505G>C (p.Ala169Pro)
c.2779G>C (p.Ala927Pro)
c.2914G>C (p.Ala972Pro)
c.2920G>C (p.Ala974Pro)
c.2836G>C (p.Ala946Pro)
c.2764G>C (p.Ala922Pro)
c.2698G>C (p.Ala900Pro)
c.2059G>C (p.Ala687Pro)
c.2677G>C (p.Ala893Pro)
9g.137813073G>TCA375793420EHMT1c.2935G>T (p.Ala979Ser)
c.2821G>T (p.Ala941Ser)
c.2842G>T (p.Ala948Ser)
c.2975G>T (n.2975G>T)
c.829G>T (p.Ala277Ser)
c.1792G>T (p.Ala598Ser)
c.622G>T
n.461G>T
c.2926G>T (p.Ala976Ser)
c.2917G>T (p.Ala973Ser)
c.2944G>T (p.Ala982Ser)
c.2941G>T (p.Ala981Ser)
c.2923G>T (p.Ala975Ser)
c.2866G>T (p.Ala956Ser)
c.2800G>T (p.Ala934Ser)
c.1366G>T (p.Ala456Ser)
c.718G>T (p.Ala240Ser)
c.505G>T (p.Ala169Ser)
c.2779G>T (p.Ala927Ser)
c.2914G>T (p.Ala972Ser)
c.2920G>T (p.Ala974Ser)
c.2836G>T (p.Ala946Ser)
c.2764G>T (p.Ala922Ser)
c.2698G>T (p.Ala900Ser)
c.2059G>T (p.Ala687Ser)
c.2677G>T (p.Ala893Ser)
9g.137813074C>ACA375793422EHMT1c.2936C>A (p.Ala979Glu)
c.2822C>A (p.Ala941Glu)
c.2843C>A (p.Ala948Glu)
c.2976C>A (n.2976C>A)
c.830C>A (p.Ala277Glu)
c.1793C>A (p.Ala598Glu)
c.623C>A
n.462C>A
c.2927C>A (p.Ala976Glu)
c.2918C>A (p.Ala973Glu)
c.2945C>A (p.Ala982Glu)
c.2942C>A (p.Ala981Glu)
c.2924C>A (p.Ala975Glu)
c.2867C>A (p.Ala956Glu)
c.2801C>A (p.Ala934Glu)
c.1367C>A (p.Ala456Glu)
c.719C>A (p.Ala240Glu)
c.506C>A (p.Ala169Glu)
c.2780C>A (p.Ala927Glu)
c.2915C>A (p.Ala972Glu)
c.2921C>A (p.Ala974Glu)
c.2837C>A (p.Ala946Glu)
c.2765C>A (p.Ala922Glu)
c.2699C>A (p.Ala900Glu)
c.2060C>A (p.Ala687Glu)
c.2678C>A (p.Ala893Glu)
9g.137813074C=CA1884685689EHMT1c.2936C= (p.Ala979=)
c.2822C= (p.Ala941=)
c.2843C= (p.Ala948=)
c.2976C= (n.2976C=)
c.830C= (p.Ala277=)
c.1793C= (p.Ala598=)
c.623C=
n.462C=
c.2927C= (p.Ala976=)
c.2918C= (p.Ala973=)
c.2945C= (p.Ala982=)
c.2942C= (p.Ala981=)
c.2924C= (p.Ala975=)
c.2867C= (p.Ala956=)
c.2801C= (p.Ala934=)
c.1367C= (p.Ala456=)
c.719C= (p.Ala240=)
c.506C= (p.Ala169=)
c.2780C= (p.Ala927=)
c.2915C= (p.Ala972=)
c.2921C= (p.Ala974=)
c.2837C= (p.Ala946=)
c.2765C= (p.Ala922=)
c.2699C= (p.Ala900=)
c.2060C= (p.Ala687=)
c.2678C= (p.Ala893=)
9g.137813074C>GCA5375106EHMT1c.2936C>G (p.Ala979Gly)
c.2822C>G (p.Ala941Gly)
c.2843C>G (p.Ala948Gly)
c.2976C>G (n.2976C>G)
c.830C>G (p.Ala277Gly)
c.1793C>G (p.Ala598Gly)
c.623C>G
n.462C>G
c.2927C>G (p.Ala976Gly)
c.2918C>G (p.Ala973Gly)
c.2945C>G (p.Ala982Gly)
c.2942C>G (p.Ala981Gly)
c.2924C>G (p.Ala975Gly)
c.2867C>G (p.Ala956Gly)
c.2801C>G (p.Ala934Gly)
c.1367C>G (p.Ala456Gly)
c.719C>G (p.Ala240Gly)
c.506C>G (p.Ala169Gly)
c.2780C>G (p.Ala927Gly)
c.2915C>G (p.Ala972Gly)
c.2921C>G (p.Ala974Gly)
c.2837C>G (p.Ala946Gly)
c.2765C>G (p.Ala922Gly)
c.2699C>G (p.Ala900Gly)
c.2060C>G (p.Ala687Gly)
c.2678C>G (p.Ala893Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813074C>TCA5375107EHMT1c.2936C>T (p.Ala979Val)
c.2822C>T (p.Ala941Val)
c.2843C>T (p.Ala948Val)
c.2976C>T (n.2976C>T)
c.830C>T (p.Ala277Val)
c.1793C>T (p.Ala598Val)
c.623C>T
n.462C>T
c.2927C>T (p.Ala976Val)
c.2918C>T (p.Ala973Val)
c.2945C>T (p.Ala982Val)
c.2942C>T (p.Ala981Val)
c.2924C>T (p.Ala975Val)
c.2867C>T (p.Ala956Val)
c.2801C>T (p.Ala934Val)
c.1367C>T (p.Ala456Val)
c.719C>T (p.Ala240Val)
c.506C>T (p.Ala169Val)
c.2780C>T (p.Ala927Val)
c.2915C>T (p.Ala972Val)
c.2921C>T (p.Ala974Val)
c.2837C>T (p.Ala946Val)
c.2765C>T (p.Ala922Val)
c.2699C>T (p.Ala900Val)
c.2060C>T (p.Ala687Val)
c.2678C>T (p.Ala893Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813075G>ACA5375108EHMT1c.2937G>A (p.Ala979=)
c.2823G>A (p.Ala941=)
c.2844G>A (p.Ala948=)
c.2977G>A (n.2977G>A)
c.831G>A (p.Ala277=)
c.1794G>A (p.Ala598=)
c.624G>A
n.463G>A
c.2928G>A (p.Ala976=)
c.2919G>A (p.Ala973=)
c.2946G>A (p.Ala982=)
c.2943G>A (p.Ala981=)
c.2925G>A (p.Ala975=)
c.2868G>A (p.Ala956=)
c.2802G>A (p.Ala934=)
c.1368G>A (p.Ala456=)
c.720G>A (p.Ala240=)
c.507G>A (p.Ala169=)
c.2781G>A (p.Ala927=)
c.2916G>A (p.Ala972=)
c.2922G>A (p.Ala974=)
c.2838G>A (p.Ala946=)
c.2766G>A (p.Ala922=)
c.2700G>A (p.Ala900=)
c.2061G>A (p.Ala687=)
c.2679G>A (p.Ala893=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813075G>CCA468161056EHMT1c.2937G>C (p.Ala979=)
c.2823G>C (p.Ala941=)
c.2844G>C (p.Ala948=)
c.2977G>C (n.2977G>C)
c.831G>C (p.Ala277=)
c.1794G>C (p.Ala598=)
c.624G>C
n.463G>C
c.2928G>C (p.Ala976=)
c.2919G>C (p.Ala973=)
c.2946G>C (p.Ala982=)
c.2943G>C (p.Ala981=)
c.2925G>C (p.Ala975=)
c.2868G>C (p.Ala956=)
c.2802G>C (p.Ala934=)
c.1368G>C (p.Ala456=)
c.720G>C (p.Ala240=)
c.507G>C (p.Ala169=)
c.2781G>C (p.Ala927=)
c.2916G>C (p.Ala972=)
c.2922G>C (p.Ala974=)
c.2838G>C (p.Ala946=)
c.2766G>C (p.Ala922=)
c.2700G>C (p.Ala900=)
c.2061G>C (p.Ala687=)
c.2679G>C (p.Ala893=)
9g.137813075G=CA1884685690EHMT1c.2937G= (p.Ala979=)
c.2823G= (p.Ala941=)
c.2844G= (p.Ala948=)
c.2977G= (n.2977G=)
c.831G= (p.Ala277=)
c.1794G= (p.Ala598=)
c.624G=
n.463G=
c.2928G= (p.Ala976=)
c.2919G= (p.Ala973=)
c.2946G= (p.Ala982=)
c.2943G= (p.Ala981=)
c.2925G= (p.Ala975=)
c.2868G= (p.Ala956=)
c.2802G= (p.Ala934=)
c.1368G= (p.Ala456=)
c.720G= (p.Ala240=)
c.507G= (p.Ala169=)
c.2781G= (p.Ala927=)
c.2916G= (p.Ala972=)
c.2922G= (p.Ala974=)
c.2838G= (p.Ala946=)
c.2766G= (p.Ala922=)
c.2700G= (p.Ala900=)
c.2061G= (p.Ala687=)
c.2679G= (p.Ala893=)
9g.137813075G>TCA468161057EHMT1c.2937G>T (p.Ala979=)
c.2823G>T (p.Ala941=)
c.2844G>T (p.Ala948=)
c.2977G>T (n.2977G>T)
c.831G>T (p.Ala277=)
c.1794G>T (p.Ala598=)
c.624G>T
n.463G>T
c.2928G>T (p.Ala976=)
c.2919G>T (p.Ala973=)
c.2946G>T (p.Ala982=)
c.2943G>T (p.Ala981=)
c.2925G>T (p.Ala975=)
c.2868G>T (p.Ala956=)
c.2802G>T (p.Ala934=)
c.1368G>T (p.Ala456=)
c.720G>T (p.Ala240=)
c.507G>T (p.Ala169=)
c.2781G>T (p.Ala927=)
c.2916G>T (p.Ala972=)
c.2922G>T (p.Ala974=)
c.2838G>T (p.Ala946=)
c.2766G>T (p.Ala922=)
c.2700G>T (p.Ala900=)
c.2061G>T (p.Ala687=)
c.2679G>T (p.Ala893=)
9g.137813076A>CCA375793425EHMT1c.2938A>C (p.Ser980Arg)
c.2824A>C (p.Ser942Arg)
c.2845A>C (p.Ser949Arg)
c.2978A>C (n.2978A>C)
c.832A>C (p.Ser278Arg)
c.1795A>C (p.Ser599Arg)
c.625A>C
n.464A>C
c.2929A>C (p.Ser977Arg)
c.2920A>C (p.Ser974Arg)
c.2947A>C (p.Ser983Arg)
c.2944A>C (p.Ser982Arg)
c.2926A>C (p.Ser976Arg)
c.2869A>C (p.Ser957Arg)
c.2803A>C (p.Ser935Arg)
c.1369A>C (p.Ser457Arg)
c.721A>C (p.Ser241Arg)
c.508A>C (p.Ser170Arg)
c.2782A>C (p.Ser928Arg)
c.2917A>C (p.Ser973Arg)
c.2923A>C (p.Ser975Arg)
c.2839A>C (p.Ser947Arg)
c.2767A>C (p.Ser923Arg)
c.2701A>C (p.Ser901Arg)
c.2062A>C (p.Ser688Arg)
c.2680A>C (p.Ser894Arg)
 gnomAD v4
9g.137813076A>GCA375793426EHMT1c.2938A>G (p.Ser980Gly)
c.2824A>G (p.Ser942Gly)
c.2845A>G (p.Ser949Gly)
c.2978A>G (n.2978A>G)
c.832A>G (p.Ser278Gly)
c.1795A>G (p.Ser599Gly)
c.625A>G
n.464A>G
c.2929A>G (p.Ser977Gly)
c.2920A>G (p.Ser974Gly)
c.2947A>G (p.Ser983Gly)
c.2944A>G (p.Ser982Gly)
c.2926A>G (p.Ser976Gly)
c.2869A>G (p.Ser957Gly)
c.2803A>G (p.Ser935Gly)
c.1369A>G (p.Ser457Gly)
c.721A>G (p.Ser241Gly)
c.508A>G (p.Ser170Gly)
c.2782A>G (p.Ser928Gly)
c.2917A>G (p.Ser973Gly)
c.2923A>G (p.Ser975Gly)
c.2839A>G (p.Ser947Gly)
c.2767A>G (p.Ser923Gly)
c.2701A>G (p.Ser901Gly)
c.2062A>G (p.Ser688Gly)
c.2680A>G (p.Ser894Gly)
9g.137813076A>TCA375793428EHMT1c.2938A>T (p.Ser980Cys)
c.2824A>T (p.Ser942Cys)
c.2845A>T (p.Ser949Cys)
c.2978A>T (n.2978A>T)
c.832A>T (p.Ser278Cys)
c.1795A>T (p.Ser599Cys)
c.625A>T
n.464A>T
c.2929A>T (p.Ser977Cys)
c.2920A>T (p.Ser974Cys)
c.2947A>T (p.Ser983Cys)
c.2944A>T (p.Ser982Cys)
c.2926A>T (p.Ser976Cys)
c.2869A>T (p.Ser957Cys)
c.2803A>T (p.Ser935Cys)
c.1369A>T (p.Ser457Cys)
c.721A>T (p.Ser241Cys)
c.508A>T (p.Ser170Cys)
c.2782A>T (p.Ser928Cys)
c.2917A>T (p.Ser973Cys)
c.2923A>T (p.Ser975Cys)
c.2839A>T (p.Ser947Cys)
c.2767A>T (p.Ser923Cys)
c.2701A>T (p.Ser901Cys)
c.2062A>T (p.Ser688Cys)
c.2680A>T (p.Ser894Cys)
9g.137813077G>ACA375793431EHMT1c.2939G>A (p.Ser980Asn)
c.2825G>A (p.Ser942Asn)
c.2846G>A (p.Ser949Asn)
c.2979G>A (n.2979G>A)
c.833G>A (p.Ser278Asn)
c.1796G>A (p.Ser599Asn)
c.626G>A
n.465G>A
c.2930G>A (p.Ser977Asn)
c.2921G>A (p.Ser974Asn)
c.2948G>A (p.Ser983Asn)
c.2945G>A (p.Ser982Asn)
c.2927G>A (p.Ser976Asn)
c.2870G>A (p.Ser957Asn)
c.2804G>A (p.Ser935Asn)
c.1370G>A (p.Ser457Asn)
c.722G>A (p.Ser241Asn)
c.509G>A (p.Ser170Asn)
c.2783G>A (p.Ser928Asn)
c.2918G>A (p.Ser973Asn)
c.2924G>A (p.Ser975Asn)
c.2840G>A (p.Ser947Asn)
c.2768G>A (p.Ser923Asn)
c.2702G>A (p.Ser901Asn)
c.2063G>A (p.Ser688Asn)
c.2681G>A (p.Ser894Asn)
 gnomAD v4
9g.137813077G>CCA375793433EHMT1c.2939G>C (p.Ser980Thr)
c.2825G>C (p.Ser942Thr)
c.2846G>C (p.Ser949Thr)
c.2979G>C (n.2979G>C)
c.833G>C (p.Ser278Thr)
c.1796G>C (p.Ser599Thr)
c.626G>C
n.465G>C
c.2930G>C (p.Ser977Thr)
c.2921G>C (p.Ser974Thr)
c.2948G>C (p.Ser983Thr)
c.2945G>C (p.Ser982Thr)
c.2927G>C (p.Ser976Thr)
c.2870G>C (p.Ser957Thr)
c.2804G>C (p.Ser935Thr)
c.1370G>C (p.Ser457Thr)
c.722G>C (p.Ser241Thr)
c.509G>C (p.Ser170Thr)
c.2783G>C (p.Ser928Thr)
c.2918G>C (p.Ser973Thr)
c.2924G>C (p.Ser975Thr)
c.2840G>C (p.Ser947Thr)
c.2768G>C (p.Ser923Thr)
c.2702G>C (p.Ser901Thr)
c.2063G>C (p.Ser688Thr)
c.2681G>C (p.Ser894Thr)
9g.137813077G>TCA375793435EHMT1c.2939G>T (p.Ser980Ile)
c.2825G>T (p.Ser942Ile)
c.2846G>T (p.Ser949Ile)
c.2979G>T (n.2979G>T)
c.833G>T (p.Ser278Ile)
c.1796G>T (p.Ser599Ile)
c.626G>T
n.465G>T
c.2930G>T (p.Ser977Ile)
c.2921G>T (p.Ser974Ile)
c.2948G>T (p.Ser983Ile)
c.2945G>T (p.Ser982Ile)
c.2927G>T (p.Ser976Ile)
c.2870G>T (p.Ser957Ile)
c.2804G>T (p.Ser935Ile)
c.1370G>T (p.Ser457Ile)
c.722G>T (p.Ser241Ile)
c.509G>T (p.Ser170Ile)
c.2783G>T (p.Ser928Ile)
c.2918G>T (p.Ser973Ile)
c.2924G>T (p.Ser975Ile)
c.2840G>T (p.Ser947Ile)
c.2768G>T (p.Ser923Ile)
c.2702G>T (p.Ser901Ile)
c.2063G>T (p.Ser688Ile)
c.2681G>T (p.Ser894Ile)
9g.137813078C>ACA375793439EHMT1c.2940C>A (p.Ser980Arg)
c.2826C>A (p.Ser942Arg)
c.2847C>A (p.Ser949Arg)
c.2980C>A (n.2980C>A)
c.834C>A (p.Ser278Arg)
c.1797C>A (p.Ser599Arg)
c.627C>A
n.466C>A
c.2931C>A (p.Ser977Arg)
c.2922C>A (p.Ser974Arg)
c.2949C>A (p.Ser983Arg)
c.2946C>A (p.Ser982Arg)
c.2928C>A (p.Ser976Arg)
c.2871C>A (p.Ser957Arg)
c.2805C>A (p.Ser935Arg)
c.1371C>A (p.Ser457Arg)
c.723C>A (p.Ser241Arg)
c.510C>A (p.Ser170Arg)
c.2784C>A (p.Ser928Arg)
c.2919C>A (p.Ser973Arg)
c.2925C>A (p.Ser975Arg)
c.2841C>A (p.Ser947Arg)
c.2769C>A (p.Ser923Arg)
c.2703C>A (p.Ser901Arg)
c.2064C>A (p.Ser688Arg)
c.2682C>A (p.Ser894Arg)
9g.137813078C>GCA375793437EHMT1c.2940C>G (p.Ser980Arg)
c.2826C>G (p.Ser942Arg)
c.2847C>G (p.Ser949Arg)
c.2980C>G (n.2980C>G)
c.834C>G (p.Ser278Arg)
c.1797C>G (p.Ser599Arg)
c.627C>G
n.466C>G
c.2931C>G (p.Ser977Arg)
c.2922C>G (p.Ser974Arg)
c.2949C>G (p.Ser983Arg)
c.2946C>G (p.Ser982Arg)
c.2928C>G (p.Ser976Arg)
c.2871C>G (p.Ser957Arg)
c.2805C>G (p.Ser935Arg)
c.1371C>G (p.Ser457Arg)
c.723C>G (p.Ser241Arg)
c.510C>G (p.Ser170Arg)
c.2784C>G (p.Ser928Arg)
c.2919C>G (p.Ser973Arg)
c.2925C>G (p.Ser975Arg)
c.2841C>G (p.Ser947Arg)
c.2769C>G (p.Ser923Arg)
c.2703C>G (p.Ser901Arg)
c.2064C>G (p.Ser688Arg)
c.2682C>G (p.Ser894Arg)
9g.137813078C>TCA468161058EHMT1c.2940C>T (p.Ser980=)
c.2826C>T (p.Ser942=)
c.2847C>T (p.Ser949=)
c.2980C>T (n.2980C>T)
c.834C>T (p.Ser278=)
c.1797C>T (p.Ser599=)
c.627C>T
n.466C>T
c.2931C>T (p.Ser977=)
c.2922C>T (p.Ser974=)
c.2949C>T (p.Ser983=)
c.2946C>T (p.Ser982=)
c.2928C>T (p.Ser976=)
c.2871C>T (p.Ser957=)
c.2805C>T (p.Ser935=)
c.1371C>T (p.Ser457=)
c.723C>T (p.Ser241=)
c.510C>T (p.Ser170=)
c.2784C>T (p.Ser928=)
c.2919C>T (p.Ser973=)
c.2925C>T (p.Ser975=)
c.2841C>T (p.Ser947=)
c.2769C>T (p.Ser923=)
c.2703C>T (p.Ser901=)
c.2064C>T (p.Ser688=)
c.2682C>T (p.Ser894=)
 gnomAD v4
9g.137813079C>ACA375793441EHMT1c.2941C>A (p.Leu981Ile)
c.2827C>A (p.Leu943Ile)
c.2848C>A (p.Leu950Ile)
c.2981C>A (n.2981C>A)
c.835C>A (p.Leu279Ile)
c.1798C>A (p.Leu600Ile)
c.628C>A
n.467C>A
c.2932C>A (p.Leu978Ile)
c.2923C>A (p.Leu975Ile)
c.2950C>A (p.Leu984Ile)
c.2947C>A (p.Leu983Ile)
c.2929C>A (p.Leu977Ile)
c.2872C>A (p.Leu958Ile)
c.2806C>A (p.Leu936Ile)
c.1372C>A (p.Leu458Ile)
c.724C>A (p.Leu242Ile)
c.511C>A (p.Leu171Ile)
c.2785C>A (p.Leu929Ile)
c.2920C>A (p.Leu974Ile)
c.2926C>A (p.Leu976Ile)
c.2842C>A (p.Leu948Ile)
c.2770C>A (p.Leu924Ile)
c.2704C>A (p.Leu902Ile)
c.2065C>A (p.Leu689Ile)
c.2683C>A (p.Leu895Ile)
9g.137813079C=CA1884685691EHMT1c.2941C= (p.Leu981=)
c.2827C= (p.Leu943=)
c.2848C= (p.Leu950=)
c.2981C= (n.2981C=)
c.835C= (p.Leu279=)
c.1798C= (p.Leu600=)
c.628C=
n.467C=
c.2932C= (p.Leu978=)
c.2923C= (p.Leu975=)
c.2950C= (p.Leu984=)
c.2947C= (p.Leu983=)
c.2929C= (p.Leu977=)
c.2872C= (p.Leu958=)
c.2806C= (p.Leu936=)
c.1372C= (p.Leu458=)
c.724C= (p.Leu242=)
c.511C= (p.Leu171=)
c.2785C= (p.Leu929=)
c.2920C= (p.Leu974=)
c.2926C= (p.Leu976=)
c.2842C= (p.Leu948=)
c.2770C= (p.Leu924=)
c.2704C= (p.Leu902=)
c.2065C= (p.Leu689=)
c.2683C= (p.Leu895=)
9g.137813079C>GCA375793443EHMT1c.2941C>G (p.Leu981Val)
c.2827C>G (p.Leu943Val)
c.2848C>G (p.Leu950Val)
c.2981C>G (n.2981C>G)
c.835C>G (p.Leu279Val)
c.1798C>G (p.Leu600Val)
c.628C>G
n.467C>G
c.2932C>G (p.Leu978Val)
c.2923C>G (p.Leu975Val)
c.2950C>G (p.Leu984Val)
c.2947C>G (p.Leu983Val)
c.2929C>G (p.Leu977Val)
c.2872C>G (p.Leu958Val)
c.2806C>G (p.Leu936Val)
c.1372C>G (p.Leu458Val)
c.724C>G (p.Leu242Val)
c.511C>G (p.Leu171Val)
c.2785C>G (p.Leu929Val)
c.2920C>G (p.Leu974Val)
c.2926C>G (p.Leu976Val)
c.2842C>G (p.Leu948Val)
c.2770C>G (p.Leu924Val)
c.2704C>G (p.Leu902Val)
c.2065C>G (p.Leu689Val)
c.2683C>G (p.Leu895Val)
 dbSNP gnomAD v3 gnomAD v4
9g.137813079C>TCA375793445EHMT1c.2941C>T (p.Leu981Phe)
c.2827C>T (p.Leu943Phe)
c.2848C>T (p.Leu950Phe)
c.2981C>T (n.2981C>T)
c.835C>T (p.Leu279Phe)
c.1798C>T (p.Leu600Phe)
c.628C>T
n.467C>T
c.2932C>T (p.Leu978Phe)
c.2923C>T (p.Leu975Phe)
c.2950C>T (p.Leu984Phe)
c.2947C>T (p.Leu983Phe)
c.2929C>T (p.Leu977Phe)
c.2872C>T (p.Leu958Phe)
c.2806C>T (p.Leu936Phe)
c.1372C>T (p.Leu458Phe)
c.724C>T (p.Leu242Phe)
c.511C>T (p.Leu171Phe)
c.2785C>T (p.Leu929Phe)
c.2920C>T (p.Leu974Phe)
c.2926C>T (p.Leu976Phe)
c.2842C>T (p.Leu948Phe)
c.2770C>T (p.Leu924Phe)
c.2704C>T (p.Leu902Phe)
c.2065C>T (p.Leu689Phe)
c.2683C>T (p.Leu895Phe)
 dbSNP gnomAD v4
9g.137813080T>ACA375793447EHMT1c.2942T>A (p.Leu981His)
c.2828T>A (p.Leu943His)
c.2849T>A (p.Leu950His)
c.2982T>A (n.2982T>A)
c.836T>A (p.Leu279His)
c.1799T>A (p.Leu600His)
c.629T>A
n.468T>A
c.2933T>A (p.Leu978His)
c.2924T>A (p.Leu975His)
c.2951T>A (p.Leu984His)
c.2948T>A (p.Leu983His)
c.2930T>A (p.Leu977His)
c.2873T>A (p.Leu958His)
c.2807T>A (p.Leu936His)
c.1373T>A (p.Leu458His)
c.725T>A (p.Leu242His)
c.512T>A (p.Leu171His)
c.2786T>A (p.Leu929His)
c.2921T>A (p.Leu974His)
c.2927T>A (p.Leu976His)
c.2843T>A (p.Leu948His)
c.2771T>A (p.Leu924His)
c.2705T>A (p.Leu902His)
c.2066T>A (p.Leu689His)
c.2684T>A (p.Leu895His)
9g.137813080T>CCA375793449EHMT1c.2942T>C (p.Leu981Pro)
c.2828T>C (p.Leu943Pro)
c.2849T>C (p.Leu950Pro)
c.2982T>C (n.2982T>C)
c.836T>C (p.Leu279Pro)
c.1799T>C (p.Leu600Pro)
c.629T>C
n.468T>C
c.2933T>C (p.Leu978Pro)
c.2924T>C (p.Leu975Pro)
c.2951T>C (p.Leu984Pro)
c.2948T>C (p.Leu983Pro)
c.2930T>C (p.Leu977Pro)
c.2873T>C (p.Leu958Pro)
c.2807T>C (p.Leu936Pro)
c.1373T>C (p.Leu458Pro)
c.725T>C (p.Leu242Pro)
c.512T>C (p.Leu171Pro)
c.2786T>C (p.Leu929Pro)
c.2921T>C (p.Leu974Pro)
c.2927T>C (p.Leu976Pro)
c.2843T>C (p.Leu948Pro)
c.2771T>C (p.Leu924Pro)
c.2705T>C (p.Leu902Pro)
c.2066T>C (p.Leu689Pro)
c.2684T>C (p.Leu895Pro)
9g.137813080T>GCA375793450EHMT1c.2942T>G (p.Leu981Arg)
c.2828T>G (p.Leu943Arg)
c.2849T>G (p.Leu950Arg)
c.2982T>G (n.2982T>G)
c.836T>G (p.Leu279Arg)
c.1799T>G (p.Leu600Arg)
c.629T>G
n.468T>G
c.2933T>G (p.Leu978Arg)
c.2924T>G (p.Leu975Arg)
c.2951T>G (p.Leu984Arg)
c.2948T>G (p.Leu983Arg)
c.2930T>G (p.Leu977Arg)
c.2873T>G (p.Leu958Arg)
c.2807T>G (p.Leu936Arg)
c.1373T>G (p.Leu458Arg)
c.725T>G (p.Leu242Arg)
c.512T>G (p.Leu171Arg)
c.2786T>G (p.Leu929Arg)
c.2921T>G (p.Leu974Arg)
c.2927T>G (p.Leu976Arg)
c.2843T>G (p.Leu948Arg)
c.2771T>G (p.Leu924Arg)
c.2705T>G (p.Leu902Arg)
c.2066T>G (p.Leu689Arg)
c.2684T>G (p.Leu895Arg)
9g.137813081C>ACA468161059EHMT1c.2943C>A (p.Leu981=)
c.2829C>A (p.Leu943=)
c.2850C>A (p.Leu950=)
c.2983C>A (n.2983C>A)
c.837C>A (p.Leu279=)
c.1800C>A (p.Leu600=)
c.630C>A
n.469C>A
c.2934C>A (p.Leu978=)
c.2925C>A (p.Leu975=)
c.2952C>A (p.Leu984=)
c.2949C>A (p.Leu983=)
c.2931C>A (p.Leu977=)
c.2874C>A (p.Leu958=)
c.2808C>A (p.Leu936=)
c.1374C>A (p.Leu458=)
c.726C>A (p.Leu242=)
c.513C>A (p.Leu171=)
c.2787C>A (p.Leu929=)
c.2922C>A (p.Leu974=)
c.2928C>A (p.Leu976=)
c.2844C>A (p.Leu948=)
c.2772C>A (p.Leu924=)
c.2706C>A (p.Leu902=)
c.2067C>A (p.Leu689=)
c.2685C>A (p.Leu895=)
9g.137813081C>GCA468161060EHMT1c.2943C>G (p.Leu981=)
c.2829C>G (p.Leu943=)
c.2850C>G (p.Leu950=)
c.2983C>G (n.2983C>G)
c.837C>G (p.Leu279=)
c.1800C>G (p.Leu600=)
c.630C>G
n.469C>G
c.2934C>G (p.Leu978=)
c.2925C>G (p.Leu975=)
c.2952C>G (p.Leu984=)
c.2949C>G (p.Leu983=)
c.2931C>G (p.Leu977=)
c.2874C>G (p.Leu958=)
c.2808C>G (p.Leu936=)
c.1374C>G (p.Leu458=)
c.726C>G (p.Leu242=)
c.513C>G (p.Leu171=)
c.2787C>G (p.Leu929=)
c.2922C>G (p.Leu974=)
c.2928C>G (p.Leu976=)
c.2844C>G (p.Leu948=)
c.2772C>G (p.Leu924=)
c.2706C>G (p.Leu902=)
c.2067C>G (p.Leu689=)
c.2685C>G (p.Leu895=)
 gnomAD v4
9g.137813081C>TCA468161061EHMT1c.2943C>T (p.Leu981=)
c.2829C>T (p.Leu943=)
c.2850C>T (p.Leu950=)
c.2983C>T (n.2983C>T)
c.837C>T (p.Leu279=)
c.1800C>T (p.Leu600=)
c.630C>T
n.469C>T
c.2934C>T (p.Leu978=)
c.2925C>T (p.Leu975=)
c.2952C>T (p.Leu984=)
c.2949C>T (p.Leu983=)
c.2931C>T (p.Leu977=)
c.2874C>T (p.Leu958=)
c.2808C>T (p.Leu936=)
c.1374C>T (p.Leu458=)
c.726C>T (p.Leu242=)
c.513C>T (p.Leu171=)
c.2787C>T (p.Leu929=)
c.2922C>T (p.Leu974=)
c.2928C>T (p.Leu976=)
c.2844C>T (p.Leu948=)
c.2772C>T (p.Leu924=)
c.2706C>T (p.Leu902=)
c.2067C>T (p.Leu689=)
c.2685C>T (p.Leu895=)
9g.137813082A=CA1884685692EHMT1c.2944A= (p.Asn982=)
c.2830A= (p.Asn944=)
c.2851A= (p.Asn951=)
c.2984A= (n.2984A=)
c.838A= (p.Asn280=)
c.1801A= (p.Asn601=)
c.631A=
n.470A=
c.2935A= (p.Asn979=)
c.2926A= (p.Asn976=)
c.2953A= (p.Asn985=)
c.2950A= (p.Asn984=)
c.2932A= (p.Asn978=)
c.2875A= (p.Asn959=)
c.2809A= (p.Asn937=)
c.1375A= (p.Asn459=)
c.727A= (p.Asn243=)
c.514A= (p.Asn172=)
c.2788A= (p.Asn930=)
c.2923A= (p.Asn975=)
c.2929A= (p.Asn977=)
c.2845A= (p.Asn949=)
c.2773A= (p.Asn925=)
c.2707A= (p.Asn903=)
c.2068A= (p.Asn690=)
c.2686A= (p.Asn896=)
9g.137813082A>CCA375793455EHMT1c.2944A>C (p.Asn982His)
c.2830A>C (p.Asn944His)
c.2851A>C (p.Asn951His)
c.2984A>C (n.2984A>C)
c.838A>C (p.Asn280His)
c.1801A>C (p.Asn601His)
c.631A>C
n.470A>C
c.2935A>C (p.Asn979His)
c.2926A>C (p.Asn976His)
c.2953A>C (p.Asn985His)
c.2950A>C (p.Asn984His)
c.2932A>C (p.Asn978His)
c.2875A>C (p.Asn959His)
c.2809A>C (p.Asn937His)
c.1375A>C (p.Asn459His)
c.727A>C (p.Asn243His)
c.514A>C (p.Asn172His)
c.2788A>C (p.Asn930His)
c.2923A>C (p.Asn975His)
c.2929A>C (p.Asn977His)
c.2845A>C (p.Asn949His)
c.2773A>C (p.Asn925His)
c.2707A>C (p.Asn903His)
c.2068A>C (p.Asn690His)
c.2686A>C (p.Asn896His)
 gnomAD v4
9g.137813082A>GCA375793452EHMT1c.2944A>G (p.Asn982Asp)
c.2830A>G (p.Asn944Asp)
c.2851A>G (p.Asn951Asp)
c.2984A>G (n.2984A>G)
c.838A>G (p.Asn280Asp)
c.1801A>G (p.Asn601Asp)
c.631A>G
n.470A>G
c.2935A>G (p.Asn979Asp)
c.2926A>G (p.Asn976Asp)
c.2953A>G (p.Asn985Asp)
c.2950A>G (p.Asn984Asp)
c.2932A>G (p.Asn978Asp)
c.2875A>G (p.Asn959Asp)
c.2809A>G (p.Asn937Asp)
c.1375A>G (p.Asn459Asp)
c.727A>G (p.Asn243Asp)
c.514A>G (p.Asn172Asp)
c.2788A>G (p.Asn930Asp)
c.2923A>G (p.Asn975Asp)
c.2929A>G (p.Asn977Asp)
c.2845A>G (p.Asn949Asp)
c.2773A>G (p.Asn925Asp)
c.2707A>G (p.Asn903Asp)
c.2068A>G (p.Asn690Asp)
c.2686A>G (p.Asn896Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813082A>TCA375793454EHMT1c.2944A>T (p.Asn982Tyr)
c.2830A>T (p.Asn944Tyr)
c.2851A>T (p.Asn951Tyr)
c.2984A>T (n.2984A>T)
c.838A>T (p.Asn280Tyr)
c.1801A>T (p.Asn601Tyr)
c.631A>T
n.470A>T
c.2935A>T (p.Asn979Tyr)
c.2926A>T (p.Asn976Tyr)
c.2953A>T (p.Asn985Tyr)
c.2950A>T (p.Asn984Tyr)
c.2932A>T (p.Asn978Tyr)
c.2875A>T (p.Asn959Tyr)
c.2809A>T (p.Asn937Tyr)
c.1375A>T (p.Asn459Tyr)
c.727A>T (p.Asn243Tyr)
c.514A>T (p.Asn172Tyr)
c.2788A>T (p.Asn930Tyr)
c.2923A>T (p.Asn975Tyr)
c.2929A>T (p.Asn977Tyr)
c.2845A>T (p.Asn949Tyr)
c.2773A>T (p.Asn925Tyr)
c.2707A>T (p.Asn903Tyr)
c.2068A>T (p.Asn690Tyr)
c.2686A>T (p.Asn896Tyr)
9g.137813083A=CA1884685693EHMT1c.2945A= (p.Asn982=)
c.2831A= (p.Asn944=)
c.2852A= (p.Asn951=)
c.2985A= (n.2985A=)
c.839A= (p.Asn280=)
c.1802A= (p.Asn601=)
c.632A=
n.471A=
c.2936A= (p.Asn979=)
c.2927A= (p.Asn976=)
c.2954A= (p.Asn985=)
c.2951A= (p.Asn984=)
c.2933A= (p.Asn978=)
c.2876A= (p.Asn959=)
c.2810A= (p.Asn937=)
c.1376A= (p.Asn459=)
c.728A= (p.Asn243=)
c.515A= (p.Asn172=)
c.2789A= (p.Asn930=)
c.2924A= (p.Asn975=)
c.2930A= (p.Asn977=)
c.2846A= (p.Asn949=)
c.2774A= (p.Asn925=)
c.2708A= (p.Asn903=)
c.2069A= (p.Asn690=)
c.2687A= (p.Asn896=)
9g.137813083A>CCA5375110EHMT1c.2945A>C (p.Asn982Thr)
c.2831A>C (p.Asn944Thr)
c.2852A>C (p.Asn951Thr)
c.2985A>C (n.2985A>C)
c.839A>C (p.Asn280Thr)
c.1802A>C (p.Asn601Thr)
c.632A>C
n.471A>C
c.2936A>C (p.Asn979Thr)
c.2927A>C (p.Asn976Thr)
c.2954A>C (p.Asn985Thr)
c.2951A>C (p.Asn984Thr)
c.2933A>C (p.Asn978Thr)
c.2876A>C (p.Asn959Thr)
c.2810A>C (p.Asn937Thr)
c.1376A>C (p.Asn459Thr)
c.728A>C (p.Asn243Thr)
c.515A>C (p.Asn172Thr)
c.2789A>C (p.Asn930Thr)
c.2924A>C (p.Asn975Thr)
c.2930A>C (p.Asn977Thr)
c.2846A>C (p.Asn949Thr)
c.2774A>C (p.Asn925Thr)
c.2708A>C (p.Asn903Thr)
c.2069A>C (p.Asn690Thr)
c.2687A>C (p.Asn896Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813083A>GCA5375109EHMT1c.2945A>G (p.Asn982Ser)
c.2831A>G (p.Asn944Ser)
c.2852A>G (p.Asn951Ser)
c.2985A>G (n.2985A>G)
c.839A>G (p.Asn280Ser)
c.1802A>G (p.Asn601Ser)
c.632A>G
n.471A>G
c.2936A>G (p.Asn979Ser)
c.2927A>G (p.Asn976Ser)
c.2954A>G (p.Asn985Ser)
c.2951A>G (p.Asn984Ser)
c.2933A>G (p.Asn978Ser)
c.2876A>G (p.Asn959Ser)
c.2810A>G (p.Asn937Ser)
c.1376A>G (p.Asn459Ser)
c.728A>G (p.Asn243Ser)
c.515A>G (p.Asn172Ser)
c.2789A>G (p.Asn930Ser)
c.2924A>G (p.Asn975Ser)
c.2930A>G (p.Asn977Ser)
c.2846A>G (p.Asn949Ser)
c.2774A>G (p.Asn925Ser)
c.2708A>G (p.Asn903Ser)
c.2069A>G (p.Asn690Ser)
c.2687A>G (p.Asn896Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813083A>TCA375793456EHMT1c.2945A>T (p.Asn982Ile)
c.2831A>T (p.Asn944Ile)
c.2852A>T (p.Asn951Ile)
c.2985A>T (n.2985A>T)
c.839A>T (p.Asn280Ile)
c.1802A>T (p.Asn601Ile)
c.632A>T
n.471A>T
c.2936A>T (p.Asn979Ile)
c.2927A>T (p.Asn976Ile)
c.2954A>T (p.Asn985Ile)
c.2951A>T (p.Asn984Ile)
c.2933A>T (p.Asn978Ile)
c.2876A>T (p.Asn959Ile)
c.2810A>T (p.Asn937Ile)
c.1376A>T (p.Asn459Ile)
c.728A>T (p.Asn243Ile)
c.515A>T (p.Asn172Ile)
c.2789A>T (p.Asn930Ile)
c.2924A>T (p.Asn975Ile)
c.2930A>T (p.Asn977Ile)
c.2846A>T (p.Asn949Ile)
c.2774A>T (p.Asn925Ile)
c.2708A>T (p.Asn903Ile)
c.2069A>T (p.Asn690Ile)
c.2687A>T (p.Asn896Ile)
9g.137813084C>ACA375793458EHMT1c.2946C>A (p.Asn982Lys)
c.2832C>A (p.Asn944Lys)
c.2853C>A (p.Asn951Lys)
c.2986C>A (n.2986C>A)
c.840C>A (p.Asn280Lys)
c.1803C>A (p.Asn601Lys)
c.633C>A
n.472C>A
c.2937C>A (p.Asn979Lys)
c.2928C>A (p.Asn976Lys)
c.2955C>A (p.Asn985Lys)
c.2952C>A (p.Asn984Lys)
c.2934C>A (p.Asn978Lys)
c.2877C>A (p.Asn959Lys)
c.2811C>A (p.Asn937Lys)
c.1377C>A (p.Asn459Lys)
c.729C>A (p.Asn243Lys)
c.516C>A (p.Asn172Lys)
c.2790C>A (p.Asn930Lys)
c.2925C>A (p.Asn975Lys)
c.2931C>A (p.Asn977Lys)
c.2847C>A (p.Asn949Lys)
c.2775C>A (p.Asn925Lys)
c.2709C>A (p.Asn903Lys)
c.2070C>A (p.Asn690Lys)
c.2688C>A (p.Asn896Lys)
9g.137813084C=CA1884685694EHMT1c.2946C= (p.Asn982=)
c.2832C= (p.Asn944=)
c.2853C= (p.Asn951=)
c.2986C= (n.2986C=)
c.840C= (p.Asn280=)
c.1803C= (p.Asn601=)
c.633C=
n.472C=
c.2937C= (p.Asn979=)
c.2928C= (p.Asn976=)
c.2955C= (p.Asn985=)
c.2952C= (p.Asn984=)
c.2934C= (p.Asn978=)
c.2877C= (p.Asn959=)
c.2811C= (p.Asn937=)
c.1377C= (p.Asn459=)
c.729C= (p.Asn243=)
c.516C= (p.Asn172=)
c.2790C= (p.Asn930=)
c.2925C= (p.Asn975=)
c.2931C= (p.Asn977=)
c.2847C= (p.Asn949=)
c.2775C= (p.Asn925=)
c.2709C= (p.Asn903=)
c.2070C= (p.Asn690=)
c.2688C= (p.Asn896=)
9g.137813084C>GCA5375111EHMT1c.2946C>G (p.Asn982Lys)
c.2832C>G (p.Asn944Lys)
c.2853C>G (p.Asn951Lys)
c.2986C>G (n.2986C>G)
c.840C>G (p.Asn280Lys)
c.1803C>G (p.Asn601Lys)
c.633C>G
n.472C>G
c.2937C>G (p.Asn979Lys)
c.2928C>G (p.Asn976Lys)
c.2955C>G (p.Asn985Lys)
c.2952C>G (p.Asn984Lys)
c.2934C>G (p.Asn978Lys)
c.2877C>G (p.Asn959Lys)
c.2811C>G (p.Asn937Lys)
c.1377C>G (p.Asn459Lys)
c.729C>G (p.Asn243Lys)
c.516C>G (p.Asn172Lys)
c.2790C>G (p.Asn930Lys)
c.2925C>G (p.Asn975Lys)
c.2931C>G (p.Asn977Lys)
c.2847C>G (p.Asn949Lys)
c.2775C>G (p.Asn925Lys)
c.2709C>G (p.Asn903Lys)
c.2070C>G (p.Asn690Lys)
c.2688C>G (p.Asn896Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813084C>TCA468161062EHMT1c.2946C>T (p.Asn982=)
c.2832C>T (p.Asn944=)
c.2853C>T (p.Asn951=)
c.2986C>T (n.2986C>T)
c.840C>T (p.Asn280=)
c.1803C>T (p.Asn601=)
c.633C>T
n.472C>T
c.2937C>T (p.Asn979=)
c.2928C>T (p.Asn976=)
c.2955C>T (p.Asn985=)
c.2952C>T (p.Asn984=)
c.2934C>T (p.Asn978=)
c.2877C>T (p.Asn959=)
c.2811C>T (p.Asn937=)
c.1377C>T (p.Asn459=)
c.729C>T (p.Asn243=)
c.516C>T (p.Asn172=)
c.2790C>T (p.Asn930=)
c.2925C>T (p.Asn975=)
c.2931C>T (p.Asn977=)
c.2847C>T (p.Asn949=)
c.2775C>T (p.Asn925=)
c.2709C>T (p.Asn903=)
c.2070C>T (p.Asn690=)
c.2688C>T (p.Asn896=)
 dbSNP gnomAD v2 gnomAD v4
9g.137813085T>ACA375793464EHMT1c.2947T>A (p.Ser983Thr)
c.2833T>A (p.Ser945Thr)
c.2854T>A (p.Ser952Thr)
c.2987T>A (n.2987T>A)
c.841T>A (p.Ser281Thr)
c.1804T>A (p.Ser602Thr)
c.634T>A
n.473T>A
c.2938T>A (p.Ser980Thr)
c.2929T>A (p.Ser977Thr)
c.2956T>A (p.Ser986Thr)
c.2953T>A (p.Ser985Thr)
c.2935T>A (p.Ser979Thr)
c.2878T>A (p.Ser960Thr)
c.2812T>A (p.Ser938Thr)
c.1378T>A (p.Ser460Thr)
c.730T>A (p.Ser244Thr)
c.517T>A (p.Ser173Thr)
c.2791T>A (p.Ser931Thr)
c.2926T>A (p.Ser976Thr)
c.2932T>A (p.Ser978Thr)
c.2848T>A (p.Ser950Thr)
c.2776T>A (p.Ser926Thr)
c.2710T>A (p.Ser904Thr)
c.2071T>A (p.Ser691Thr)
c.2689T>A (p.Ser897Thr)
9g.137813085T>CCA375793461EHMT1c.2947T>C (p.Ser983Pro)
c.2833T>C (p.Ser945Pro)
c.2854T>C (p.Ser952Pro)
c.2987T>C (n.2987T>C)
c.841T>C (p.Ser281Pro)
c.1804T>C (p.Ser602Pro)
c.634T>C
n.473T>C
c.2938T>C (p.Ser980Pro)
c.2929T>C (p.Ser977Pro)
c.2956T>C (p.Ser986Pro)
c.2953T>C (p.Ser985Pro)
c.2935T>C (p.Ser979Pro)
c.2878T>C (p.Ser960Pro)
c.2812T>C (p.Ser938Pro)
c.1378T>C (p.Ser460Pro)
c.730T>C (p.Ser244Pro)
c.517T>C (p.Ser173Pro)
c.2791T>C (p.Ser931Pro)
c.2926T>C (p.Ser976Pro)
c.2932T>C (p.Ser978Pro)
c.2848T>C (p.Ser950Pro)
c.2776T>C (p.Ser926Pro)
c.2710T>C (p.Ser904Pro)
c.2071T>C (p.Ser691Pro)
c.2689T>C (p.Ser897Pro)
9g.137813085T>GCA375793463EHMT1c.2947T>G (p.Ser983Ala)
c.2833T>G (p.Ser945Ala)
c.2854T>G (p.Ser952Ala)
c.2987T>G (n.2987T>G)
c.841T>G (p.Ser281Ala)
c.1804T>G (p.Ser602Ala)
c.634T>G
n.473T>G
c.2938T>G (p.Ser980Ala)
c.2929T>G (p.Ser977Ala)
c.2956T>G (p.Ser986Ala)
c.2953T>G (p.Ser985Ala)
c.2935T>G (p.Ser979Ala)
c.2878T>G (p.Ser960Ala)
c.2812T>G (p.Ser938Ala)
c.1378T>G (p.Ser460Ala)
c.730T>G (p.Ser244Ala)
c.517T>G (p.Ser173Ala)
c.2791T>G (p.Ser931Ala)
c.2926T>G (p.Ser976Ala)
c.2932T>G (p.Ser978Ala)
c.2848T>G (p.Ser950Ala)
c.2776T>G (p.Ser926Ala)
c.2710T>G (p.Ser904Ala)
c.2071T>G (p.Ser691Ala)
c.2689T>G (p.Ser897Ala)
9g.137813086C>ACA375793466EHMT1c.2948C>A (p.Ser983Tyr)
c.2834C>A (p.Ser945Tyr)
c.2855C>A (p.Ser952Tyr)
c.2988C>A (n.2988C>A)
c.842C>A (p.Ser281Tyr)
c.1805C>A (p.Ser602Tyr)
c.635C>A
n.474C>A
c.2939C>A (p.Ser980Tyr)
c.2930C>A (p.Ser977Tyr)
c.2957C>A (p.Ser986Tyr)
c.2954C>A (p.Ser985Tyr)
c.2936C>A (p.Ser979Tyr)
c.2879C>A (p.Ser960Tyr)
c.2813C>A (p.Ser938Tyr)
c.1379C>A (p.Ser460Tyr)
c.731C>A (p.Ser244Tyr)
c.518C>A (p.Ser173Tyr)
c.2792C>A (p.Ser931Tyr)
c.2927C>A (p.Ser976Tyr)
c.2933C>A (p.Ser978Tyr)
c.2849C>A (p.Ser950Tyr)
c.2777C>A (p.Ser926Tyr)
c.2711C>A (p.Ser904Tyr)
c.2072C>A (p.Ser691Tyr)
c.2690C>A (p.Ser897Tyr)
 ClinVar dbSNP
9g.137813086C=CA1884685695EHMT1c.2948C= (p.Ser983=)
c.2834C= (p.Ser945=)
c.2855C= (p.Ser952=)
c.2988C= (n.2988C=)
c.842C= (p.Ser281=)
c.1805C= (p.Ser602=)
c.635C=
n.474C=
c.2939C= (p.Ser980=)
c.2930C= (p.Ser977=)
c.2957C= (p.Ser986=)
c.2954C= (p.Ser985=)
c.2936C= (p.Ser979=)
c.2879C= (p.Ser960=)
c.2813C= (p.Ser938=)
c.1379C= (p.Ser460=)
c.731C= (p.Ser244=)
c.518C= (p.Ser173=)
c.2792C= (p.Ser931=)
c.2927C= (p.Ser976=)
c.2933C= (p.Ser978=)
c.2849C= (p.Ser950=)
c.2777C= (p.Ser926=)
c.2711C= (p.Ser904=)
c.2072C= (p.Ser691=)
c.2690C= (p.Ser897=)
9g.137813086C>GCA5375112EHMT1c.2948C>G (p.Ser983Cys)
c.2834C>G (p.Ser945Cys)
c.2855C>G (p.Ser952Cys)
c.2988C>G (n.2988C>G)
c.842C>G (p.Ser281Cys)
c.1805C>G (p.Ser602Cys)
c.635C>G
n.474C>G
c.2939C>G (p.Ser980Cys)
c.2930C>G (p.Ser977Cys)
c.2957C>G (p.Ser986Cys)
c.2954C>G (p.Ser985Cys)
c.2936C>G (p.Ser979Cys)
c.2879C>G (p.Ser960Cys)
c.2813C>G (p.Ser938Cys)
c.1379C>G (p.Ser460Cys)
c.731C>G (p.Ser244Cys)
c.518C>G (p.Ser173Cys)
c.2792C>G (p.Ser931Cys)
c.2927C>G (p.Ser976Cys)
c.2933C>G (p.Ser978Cys)
c.2849C>G (p.Ser950Cys)
c.2777C>G (p.Ser926Cys)
c.2711C>G (p.Ser904Cys)
c.2072C>G (p.Ser691Cys)
c.2690C>G (p.Ser897Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813086C>TCA375793469EHMT1c.2948C>T (p.Ser983Phe)
c.2834C>T (p.Ser945Phe)
c.2855C>T (p.Ser952Phe)
c.2988C>T (n.2988C>T)
c.842C>T (p.Ser281Phe)
c.1805C>T (p.Ser602Phe)
c.635C>T
n.474C>T
c.2939C>T (p.Ser980Phe)
c.2930C>T (p.Ser977Phe)
c.2957C>T (p.Ser986Phe)
c.2954C>T (p.Ser985Phe)
c.2936C>T (p.Ser979Phe)
c.2879C>T (p.Ser960Phe)
c.2813C>T (p.Ser938Phe)
c.1379C>T (p.Ser460Phe)
c.731C>T (p.Ser244Phe)
c.518C>T (p.Ser173Phe)
c.2792C>T (p.Ser931Phe)
c.2927C>T (p.Ser976Phe)
c.2933C>T (p.Ser978Phe)
c.2849C>T (p.Ser950Phe)
c.2777C>T (p.Ser926Phe)
c.2711C>T (p.Ser904Phe)
c.2072C>T (p.Ser691Phe)
c.2690C>T (p.Ser897Phe)
 gnomAD v4
9g.137813087T>ACA468161065EHMT1c.2949T>A (p.Ser983=)
c.2835T>A (p.Ser945=)
c.2856T>A (p.Ser952=)
c.2989T>A (n.2989T>A)
c.843T>A (p.Ser281=)
c.1806T>A (p.Ser602=)
c.636T>A
n.475T>A
c.2940T>A (p.Ser980=)
c.2931T>A (p.Ser977=)
c.2958T>A (p.Ser986=)
c.2955T>A (p.Ser985=)
c.2937T>A (p.Ser979=)
c.2880T>A (p.Ser960=)
c.2814T>A (p.Ser938=)
c.1380T>A (p.Ser460=)
c.732T>A (p.Ser244=)
c.519T>A (p.Ser173=)
c.2793T>A (p.Ser931=)
c.2928T>A (p.Ser976=)
c.2934T>A (p.Ser978=)
c.2850T>A (p.Ser950=)
c.2778T>A (p.Ser926=)
c.2712T>A (p.Ser904=)
c.2073T>A (p.Ser691=)
c.2691T>A (p.Ser897=)
9g.137813087T>CCA468161064EHMT1c.2949T>C (p.Ser983=)
c.2835T>C (p.Ser945=)
c.2856T>C (p.Ser952=)
c.2989T>C (n.2989T>C)
c.843T>C (p.Ser281=)
c.1806T>C (p.Ser602=)
c.636T>C
n.475T>C
c.2940T>C (p.Ser980=)
c.2931T>C (p.Ser977=)
c.2958T>C (p.Ser986=)
c.2955T>C (p.Ser985=)
c.2937T>C (p.Ser979=)
c.2880T>C (p.Ser960=)
c.2814T>C (p.Ser938=)
c.1380T>C (p.Ser460=)
c.732T>C (p.Ser244=)
c.519T>C (p.Ser173=)
c.2793T>C (p.Ser931=)
c.2928T>C (p.Ser976=)
c.2934T>C (p.Ser978=)
c.2850T>C (p.Ser950=)
c.2778T>C (p.Ser926=)
c.2712T>C (p.Ser904=)
c.2073T>C (p.Ser691=)
c.2691T>C (p.Ser897=)
9g.137813087T>GCA468161063EHMT1c.2949T>G (p.Ser983=)
c.2835T>G (p.Ser945=)
c.2856T>G (p.Ser952=)
c.2989T>G (n.2989T>G)
c.843T>G (p.Ser281=)
c.1806T>G (p.Ser602=)
c.636T>G
n.475T>G
c.2940T>G (p.Ser980=)
c.2931T>G (p.Ser977=)
c.2958T>G (p.Ser986=)
c.2955T>G (p.Ser985=)
c.2937T>G (p.Ser979=)
c.2880T>G (p.Ser960=)
c.2814T>G (p.Ser938=)
c.1380T>G (p.Ser460=)
c.732T>G (p.Ser244=)
c.519T>G (p.Ser173=)
c.2793T>G (p.Ser931=)
c.2928T>G (p.Ser976=)
c.2934T>G (p.Ser978=)
c.2850T>G (p.Ser950=)
c.2778T>G (p.Ser926=)
c.2712T>G (p.Ser904=)
c.2073T>G (p.Ser691=)
c.2691T>G (p.Ser897=)
9g.137813088C>ACA375793472EHMT1c.2950C>A (p.Gln984Lys)
c.2836C>A (p.Gln946Lys)
c.2857C>A (p.Gln953Lys)
c.2990C>A (n.2990C>A)
c.844C>A (p.Gln282Lys)
c.1807C>A (p.Gln603Lys)
c.637C>A
n.476C>A
c.2941C>A (p.Gln981Lys)
c.2932C>A (p.Gln978Lys)
c.2959C>A (p.Gln987Lys)
c.2956C>A (p.Gln986Lys)
c.2938C>A (p.Gln980Lys)
c.2881C>A (p.Gln961Lys)
c.2815C>A (p.Gln939Lys)
c.1381C>A (p.Gln461Lys)
c.733C>A (p.Gln245Lys)
c.520C>A (p.Gln174Lys)
c.2794C>A (p.Gln932Lys)
c.2929C>A (p.Gln977Lys)
c.2935C>A (p.Gln979Lys)
c.2851C>A (p.Gln951Lys)
c.2779C>A (p.Gln927Lys)
c.2713C>A (p.Gln905Lys)
c.2074C>A (p.Gln692Lys)
c.2692C>A (p.Gln898Lys)
9g.137813088C=CA1884685696EHMT1c.2950C= (p.Gln984=)
c.2836C= (p.Gln946=)
c.2857C= (p.Gln953=)
c.2990C= (n.2990C=)
c.844C= (p.Gln282=)
c.1807C= (p.Gln603=)
c.637C=
n.476C=
c.2941C= (p.Gln981=)
c.2932C= (p.Gln978=)
c.2959C= (p.Gln987=)
c.2956C= (p.Gln986=)
c.2938C= (p.Gln980=)
c.2881C= (p.Gln961=)
c.2815C= (p.Gln939=)
c.1381C= (p.Gln461=)
c.733C= (p.Gln245=)
c.520C= (p.Gln174=)
c.2794C= (p.Gln932=)
c.2929C= (p.Gln977=)
c.2935C= (p.Gln979=)
c.2851C= (p.Gln951=)
c.2779C= (p.Gln927=)
c.2713C= (p.Gln905=)
c.2074C= (p.Gln692=)
c.2692C= (p.Gln898=)
9g.137813088C>GCA375793473EHMT1c.2950C>G (p.Gln984Glu)
c.2836C>G (p.Gln946Glu)
c.2857C>G (p.Gln953Glu)
c.2990C>G (n.2990C>G)
c.844C>G (p.Gln282Glu)
c.1807C>G (p.Gln603Glu)
c.637C>G
n.476C>G
c.2941C>G (p.Gln981Glu)
c.2932C>G (p.Gln978Glu)
c.2959C>G (p.Gln987Glu)
c.2956C>G (p.Gln986Glu)
c.2938C>G (p.Gln980Glu)
c.2881C>G (p.Gln961Glu)
c.2815C>G (p.Gln939Glu)
c.1381C>G (p.Gln461Glu)
c.733C>G (p.Gln245Glu)
c.520C>G (p.Gln174Glu)
c.2794C>G (p.Gln932Glu)
c.2929C>G (p.Gln977Glu)
c.2935C>G (p.Gln979Glu)
c.2851C>G (p.Gln951Glu)
c.2779C>G (p.Gln927Glu)
c.2713C>G (p.Gln905Glu)
c.2074C>G (p.Gln692Glu)
c.2692C>G (p.Gln898Glu)
9g.137813088C>TCA375793475EHMT1c.2950C>T (p.Gln984Ter)
c.2836C>T (p.Gln946Ter)
c.2857C>T (p.Gln953Ter)
c.2990C>T (n.2990C>T)
c.844C>T (p.Gln282Ter)
c.1807C>T (p.Gln603Ter)
c.637C>T
n.476C>T
c.2941C>T (p.Gln981Ter)
c.2932C>T (p.Gln978Ter)
c.2959C>T (p.Gln987Ter)
c.2956C>T (p.Gln986Ter)
c.2938C>T (p.Gln980Ter)
c.2881C>T (p.Gln961Ter)
c.2815C>T (p.Gln939Ter)
c.1381C>T (p.Gln461Ter)
c.733C>T (p.Gln245Ter)
c.520C>T (p.Gln174Ter)
c.2794C>T (p.Gln932Ter)
c.2929C>T (p.Gln977Ter)
c.2935C>T (p.Gln979Ter)
c.2851C>T (p.Gln951Ter)
c.2779C>T (p.Gln927Ter)
c.2713C>T (p.Gln905Ter)
c.2074C>T (p.Gln692Ter)
c.2692C>T (p.Gln898Ter)
 ClinVar dbSNP
9g.137813089A>CCA375793481EHMT1c.2951A>C (p.Gln984Pro)
c.2837A>C (p.Gln946Pro)
c.2858A>C (p.Gln953Pro)
c.2991A>C (n.2991A>C)
c.845A>C (p.Gln282Pro)
c.1808A>C (p.Gln603Pro)
c.638A>C
n.477A>C
c.2942A>C (p.Gln981Pro)
c.2933A>C (p.Gln978Pro)
c.2960A>C (p.Gln987Pro)
c.2957A>C (p.Gln986Pro)
c.2939A>C (p.Gln980Pro)
c.2882A>C (p.Gln961Pro)
c.2816A>C (p.Gln939Pro)
c.1382A>C (p.Gln461Pro)
c.734A>C (p.Gln245Pro)
c.521A>C (p.Gln174Pro)
c.2795A>C (p.Gln932Pro)
c.2930A>C (p.Gln977Pro)
c.2936A>C (p.Gln979Pro)
c.2852A>C (p.Gln951Pro)
c.2780A>C (p.Gln927Pro)
c.2714A>C (p.Gln905Pro)
c.2075A>C (p.Gln692Pro)
c.2693A>C (p.Gln898Pro)
 gnomAD v4
9g.137813089A>GCA375793477EHMT1c.2951A>G (p.Gln984Arg)
c.2837A>G (p.Gln946Arg)
c.2858A>G (p.Gln953Arg)
c.2991A>G (n.2991A>G)
c.845A>G (p.Gln282Arg)
c.1808A>G (p.Gln603Arg)
c.638A>G
n.477A>G
c.2942A>G (p.Gln981Arg)
c.2933A>G (p.Gln978Arg)
c.2960A>G (p.Gln987Arg)
c.2957A>G (p.Gln986Arg)
c.2939A>G (p.Gln980Arg)
c.2882A>G (p.Gln961Arg)
c.2816A>G (p.Gln939Arg)
c.1382A>G (p.Gln461Arg)
c.734A>G (p.Gln245Arg)
c.521A>G (p.Gln174Arg)
c.2795A>G (p.Gln932Arg)
c.2930A>G (p.Gln977Arg)
c.2936A>G (p.Gln979Arg)
c.2852A>G (p.Gln951Arg)
c.2780A>G (p.Gln927Arg)
c.2714A>G (p.Gln905Arg)
c.2075A>G (p.Gln692Arg)
c.2693A>G (p.Gln898Arg)
9g.137813089A>TCA375793479EHMT1c.2951A>T (p.Gln984Leu)
c.2837A>T (p.Gln946Leu)
c.2858A>T (p.Gln953Leu)
c.2991A>T (n.2991A>T)
c.845A>T (p.Gln282Leu)
c.1808A>T (p.Gln603Leu)
c.638A>T
n.477A>T
c.2942A>T (p.Gln981Leu)
c.2933A>T (p.Gln978Leu)
c.2960A>T (p.Gln987Leu)
c.2957A>T (p.Gln986Leu)
c.2939A>T (p.Gln980Leu)
c.2882A>T (p.Gln961Leu)
c.2816A>T (p.Gln939Leu)
c.1382A>T (p.Gln461Leu)
c.734A>T (p.Gln245Leu)
c.521A>T (p.Gln174Leu)
c.2795A>T (p.Gln932Leu)
c.2930A>T (p.Gln977Leu)
c.2936A>T (p.Gln979Leu)
c.2852A>T (p.Gln951Leu)
c.2780A>T (p.Gln927Leu)
c.2714A>T (p.Gln905Leu)
c.2075A>T (p.Gln692Leu)
c.2693A>T (p.Gln898Leu)
9g.137813090G>ACA468161066EHMT1c.2952G>A (p.Gln984=)
c.2838G>A (p.Gln946=)
c.2859G>A (p.Gln953=)
c.2992G>A (n.2992G>A)
c.846G>A (p.Gln282=)
c.1809G>A (p.Gln603=)
c.639G>A
n.478G>A
c.2943G>A (p.Gln981=)
c.2934G>A (p.Gln978=)
c.2961G>A (p.Gln987=)
c.2958G>A (p.Gln986=)
c.2940G>A (p.Gln980=)
c.2883G>A (p.Gln961=)
c.2817G>A (p.Gln939=)
c.1383G>A (p.Gln461=)
c.735G>A (p.Gln245=)
c.522G>A (p.Gln174=)
c.2796G>A (p.Gln932=)
c.2931G>A (p.Gln977=)
c.2937G>A (p.Gln979=)
c.2853G>A (p.Gln951=)
c.2781G>A (p.Gln927=)
c.2715G>A (p.Gln905=)
c.2076G>A (p.Gln692=)
c.2694G>A (p.Gln898=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813090G>CCA375793483EHMT1c.2952G>C (p.Gln984His)
c.2838G>C (p.Gln946His)
c.2859G>C (p.Gln953His)
c.2992G>C (n.2992G>C)
c.846G>C (p.Gln282His)
c.1809G>C (p.Gln603His)
c.639G>C
n.478G>C
c.2943G>C (p.Gln981His)
c.2934G>C (p.Gln978His)
c.2961G>C (p.Gln987His)
c.2958G>C (p.Gln986His)
c.2940G>C (p.Gln980His)
c.2883G>C (p.Gln961His)
c.2817G>C (p.Gln939His)
c.1383G>C (p.Gln461His)
c.735G>C (p.Gln245His)
c.522G>C (p.Gln174His)
c.2796G>C (p.Gln932His)
c.2931G>C (p.Gln977His)
c.2937G>C (p.Gln979His)
c.2853G>C (p.Gln951His)
c.2781G>C (p.Gln927His)
c.2715G>C (p.Gln905His)
c.2076G>C (p.Gln692His)
c.2694G>C (p.Gln898His)
9g.137813090G=CA1884685697EHMT1c.2952G= (p.Gln984=)
c.2838G= (p.Gln946=)
c.2859G= (p.Gln953=)
c.2992G= (n.2992G=)
c.846G= (p.Gln282=)
c.1809G= (p.Gln603=)
c.639G=
n.478G=
c.2943G= (p.Gln981=)
c.2934G= (p.Gln978=)
c.2961G= (p.Gln987=)
c.2958G= (p.Gln986=)
c.2940G= (p.Gln980=)
c.2883G= (p.Gln961=)
c.2817G= (p.Gln939=)
c.1383G= (p.Gln461=)
c.735G= (p.Gln245=)
c.522G= (p.Gln174=)
c.2796G= (p.Gln932=)
c.2931G= (p.Gln977=)
c.2937G= (p.Gln979=)
c.2853G= (p.Gln951=)
c.2781G= (p.Gln927=)
c.2715G= (p.Gln905=)
c.2076G= (p.Gln692=)
c.2694G= (p.Gln898=)
9g.137813090G>TCA375793484EHMT1c.2952G>T (p.Gln984His)
c.2838G>T (p.Gln946His)
c.2859G>T (p.Gln953His)
c.2992G>T (n.2992G>T)
c.846G>T (p.Gln282His)
c.1809G>T (p.Gln603His)
c.639G>T
n.478G>T
c.2943G>T (p.Gln981His)
c.2934G>T (p.Gln978His)
c.2961G>T (p.Gln987His)
c.2958G>T (p.Gln986His)
c.2940G>T (p.Gln980His)
c.2883G>T (p.Gln961His)
c.2817G>T (p.Gln939His)
c.1383G>T (p.Gln461His)
c.735G>T (p.Gln245His)
c.522G>T (p.Gln174His)
c.2796G>T (p.Gln932His)
c.2931G>T (p.Gln977His)
c.2937G>T (p.Gln979His)
c.2853G>T (p.Gln951His)
c.2781G>T (p.Gln927His)
c.2715G>T (p.Gln905His)
c.2076G>T (p.Gln692His)
c.2694G>T (p.Gln898His)
9g.137813091G>ACA5375113EHMT1c.2953G>A (p.Val985Met)
c.2839G>A (p.Val947Met)
c.2860G>A (p.Val954Met)
c.2993G>A (n.2993G>A)
c.847G>A (p.Val283Met)
c.1810G>A (p.Val604Met)
c.640G>A
n.479G>A
c.2944G>A (p.Val982Met)
c.2935G>A (p.Val979Met)
c.2962G>A (p.Val988Met)
c.2959G>A (p.Val987Met)
c.2941G>A (p.Val981Met)
c.2884G>A (p.Val962Met)
c.2818G>A (p.Val940Met)
c.1384G>A (p.Val462Met)
c.736G>A (p.Val246Met)
c.523G>A (p.Val175Met)
c.2797G>A (p.Val933Met)
c.2932G>A (p.Val978Met)
c.2938G>A (p.Val980Met)
c.2854G>A (p.Val952Met)
c.2782G>A (p.Val928Met)
c.2716G>A (p.Val906Met)
c.2077G>A (p.Val693Met)
c.2695G>A (p.Val899Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813091G>CCA375793487EHMT1c.2953G>C (p.Val985Leu)
c.2839G>C (p.Val947Leu)
c.2860G>C (p.Val954Leu)
c.2993G>C (n.2993G>C)
c.847G>C (p.Val283Leu)
c.1810G>C (p.Val604Leu)
c.640G>C
n.479G>C
c.2944G>C (p.Val982Leu)
c.2935G>C (p.Val979Leu)
c.2962G>C (p.Val988Leu)
c.2959G>C (p.Val987Leu)
c.2941G>C (p.Val981Leu)
c.2884G>C (p.Val962Leu)
c.2818G>C (p.Val940Leu)
c.1384G>C (p.Val462Leu)
c.736G>C (p.Val246Leu)
c.523G>C (p.Val175Leu)
c.2797G>C (p.Val933Leu)
c.2932G>C (p.Val978Leu)
c.2938G>C (p.Val980Leu)
c.2854G>C (p.Val952Leu)
c.2782G>C (p.Val928Leu)
c.2716G>C (p.Val906Leu)
c.2077G>C (p.Val693Leu)
c.2695G>C (p.Val899Leu)
9g.137813091G=CA1884685698EHMT1c.2953G= (p.Val985=)
c.2839G= (p.Val947=)
c.2860G= (p.Val954=)
c.2993G= (n.2993G=)
c.847G= (p.Val283=)
c.1810G= (p.Val604=)
c.640G=
n.479G=
c.2944G= (p.Val982=)
c.2935G= (p.Val979=)
c.2962G= (p.Val988=)
c.2959G= (p.Val987=)
c.2941G= (p.Val981=)
c.2884G= (p.Val962=)
c.2818G= (p.Val940=)
c.1384G= (p.Val462=)
c.736G= (p.Val246=)
c.523G= (p.Val175=)
c.2797G= (p.Val933=)
c.2932G= (p.Val978=)
c.2938G= (p.Val980=)
c.2854G= (p.Val952=)
c.2782G= (p.Val928=)
c.2716G= (p.Val906=)
c.2077G= (p.Val693=)
c.2695G= (p.Val899=)
9g.137813091G>TCA375793488EHMT1c.2953G>T (p.Val985Leu)
c.2839G>T (p.Val947Leu)
c.2860G>T (p.Val954Leu)
c.2993G>T (n.2993G>T)
c.847G>T (p.Val283Leu)
c.1810G>T (p.Val604Leu)
c.640G>T
n.479G>T
c.2944G>T (p.Val982Leu)
c.2935G>T (p.Val979Leu)
c.2962G>T (p.Val988Leu)
c.2959G>T (p.Val987Leu)
c.2941G>T (p.Val981Leu)
c.2884G>T (p.Val962Leu)
c.2818G>T (p.Val940Leu)
c.1384G>T (p.Val462Leu)
c.736G>T (p.Val246Leu)
c.523G>T (p.Val175Leu)
c.2797G>T (p.Val933Leu)
c.2932G>T (p.Val978Leu)
c.2938G>T (p.Val980Leu)
c.2854G>T (p.Val952Leu)
c.2782G>T (p.Val928Leu)
c.2716G>T (p.Val906Leu)
c.2077G>T (p.Val693Leu)
c.2695G>T (p.Val899Leu)
9g.137813092T>ACA375793494EHMT1c.2954T>A (p.Val985Glu)
c.2840T>A (p.Val947Glu)
c.2861T>A (p.Val954Glu)
c.2994T>A (n.2994T>A)
c.848T>A (p.Val283Glu)
c.1811T>A (p.Val604Glu)
c.641T>A
n.480T>A
c.2945T>A (p.Val982Glu)
c.2936T>A (p.Val979Glu)
c.2963T>A (p.Val988Glu)
c.2960T>A (p.Val987Glu)
c.2942T>A (p.Val981Glu)
c.2885T>A (p.Val962Glu)
c.2819T>A (p.Val940Glu)
c.1385T>A (p.Val462Glu)
c.737T>A (p.Val246Glu)
c.524T>A (p.Val175Glu)
c.2798T>A (p.Val933Glu)
c.2933T>A (p.Val978Glu)
c.2939T>A (p.Val980Glu)
c.2855T>A (p.Val952Glu)
c.2783T>A (p.Val928Glu)
c.2717T>A (p.Val906Glu)
c.2078T>A (p.Val693Glu)
c.2696T>A (p.Val899Glu)
9g.137813092T>CCA375793490EHMT1c.2954T>C (p.Val985Ala)
c.2840T>C (p.Val947Ala)
c.2861T>C (p.Val954Ala)
c.2994T>C (n.2994T>C)
c.848T>C (p.Val283Ala)
c.1811T>C (p.Val604Ala)
c.641T>C
n.480T>C
c.2945T>C (p.Val982Ala)
c.2936T>C (p.Val979Ala)
c.2963T>C (p.Val988Ala)
c.2960T>C (p.Val987Ala)
c.2942T>C (p.Val981Ala)
c.2885T>C (p.Val962Ala)
c.2819T>C (p.Val940Ala)
c.1385T>C (p.Val462Ala)
c.737T>C (p.Val246Ala)
c.524T>C (p.Val175Ala)
c.2798T>C (p.Val933Ala)
c.2933T>C (p.Val978Ala)
c.2939T>C (p.Val980Ala)
c.2855T>C (p.Val952Ala)
c.2783T>C (p.Val928Ala)
c.2717T>C (p.Val906Ala)
c.2078T>C (p.Val693Ala)
c.2696T>C (p.Val899Ala)
9g.137813092T>GCA375793492EHMT1c.2954T>G (p.Val985Gly)
c.2840T>G (p.Val947Gly)
c.2861T>G (p.Val954Gly)
c.2994T>G (n.2994T>G)
c.848T>G (p.Val283Gly)
c.1811T>G (p.Val604Gly)
c.641T>G
n.480T>G
c.2945T>G (p.Val982Gly)
c.2936T>G (p.Val979Gly)
c.2963T>G (p.Val988Gly)
c.2960T>G (p.Val987Gly)
c.2942T>G (p.Val981Gly)
c.2885T>G (p.Val962Gly)
c.2819T>G (p.Val940Gly)
c.1385T>G (p.Val462Gly)
c.737T>G (p.Val246Gly)
c.524T>G (p.Val175Gly)
c.2798T>G (p.Val933Gly)
c.2933T>G (p.Val978Gly)
c.2939T>G (p.Val980Gly)
c.2855T>G (p.Val952Gly)
c.2783T>G (p.Val928Gly)
c.2717T>G (p.Val906Gly)
c.2078T>G (p.Val693Gly)
c.2696T>G (p.Val899Gly)
9g.137813093G>ACA468161067EHMT1c.2955G>A (p.Val985=)
c.2841G>A (p.Val947=)
c.2862G>A (p.Val954=)
c.2995G>A (n.2995G>A)
c.849G>A (p.Val283=)
c.1812G>A (p.Val604=)
c.642G>A
n.481G>A
c.2946G>A (p.Val982=)
c.2937G>A (p.Val979=)
c.2964G>A (p.Val988=)
c.2961G>A (p.Val987=)
c.2943G>A (p.Val981=)
c.2886G>A (p.Val962=)
c.2820G>A (p.Val940=)
c.1386G>A (p.Val462=)
c.738G>A (p.Val246=)
c.525G>A (p.Val175=)
c.2799G>A (p.Val933=)
c.2934G>A (p.Val978=)
c.2940G>A (p.Val980=)
c.2856G>A (p.Val952=)
c.2784G>A (p.Val928=)
c.2718G>A (p.Val906=)
c.2079G>A (p.Val693=)
c.2697G>A (p.Val899=)
9g.137813093G>CCA468161068EHMT1c.2955G>C (p.Val985=)
c.2841G>C (p.Val947=)
c.2862G>C (p.Val954=)
c.2995G>C (n.2995G>C)
c.849G>C (p.Val283=)
c.1812G>C (p.Val604=)
c.642G>C
n.481G>C
c.2946G>C (p.Val982=)
c.2937G>C (p.Val979=)
c.2964G>C (p.Val988=)
c.2961G>C (p.Val987=)
c.2943G>C (p.Val981=)
c.2886G>C (p.Val962=)
c.2820G>C (p.Val940=)
c.1386G>C (p.Val462=)
c.738G>C (p.Val246=)
c.525G>C (p.Val175=)
c.2799G>C (p.Val933=)
c.2934G>C (p.Val978=)
c.2940G>C (p.Val980=)
c.2856G>C (p.Val952=)
c.2784G>C (p.Val928=)
c.2718G>C (p.Val906=)
c.2079G>C (p.Val693=)
c.2697G>C (p.Val899=)
9g.137813093G>TCA468161069EHMT1c.2955G>T (p.Val985=)
c.2841G>T (p.Val947=)
c.2862G>T (p.Val954=)
c.2995G>T (n.2995G>T)
c.849G>T (p.Val283=)
c.1812G>T (p.Val604=)
c.642G>T
n.481G>T
c.2946G>T (p.Val982=)
c.2937G>T (p.Val979=)
c.2964G>T (p.Val988=)
c.2961G>T (p.Val987=)
c.2943G>T (p.Val981=)
c.2886G>T (p.Val962=)
c.2820G>T (p.Val940=)
c.1386G>T (p.Val462=)
c.738G>T (p.Val246=)
c.525G>T (p.Val175=)
c.2799G>T (p.Val933=)
c.2934G>T (p.Val978=)
c.2940G>T (p.Val980=)
c.2856G>T (p.Val952=)
c.2784G>T (p.Val928=)
c.2718G>T (p.Val906=)
c.2079G>T (p.Val693=)
c.2697G>T (p.Val899=)
9g.137813094T>ACA375793496EHMT1c.2956T>A (p.Trp986Arg)
c.2842T>A (p.Trp948Arg)
c.2863T>A (p.Trp955Arg)
c.2996T>A (n.2996T>A)
c.850T>A (p.Trp284Arg)
c.1813T>A (p.Trp605Arg)
c.643T>A
n.482T>A
c.2947T>A (p.Trp983Arg)
c.2938T>A (p.Trp980Arg)
c.2965T>A (p.Trp989Arg)
c.2962T>A (p.Trp988Arg)
c.2944T>A (p.Trp982Arg)
c.2887T>A (p.Trp963Arg)
c.2821T>A (p.Trp941Arg)
c.1387T>A (p.Trp463Arg)
c.739T>A (p.Trp247Arg)
c.526T>A (p.Trp176Arg)
c.2800T>A (p.Trp934Arg)
c.2935T>A (p.Trp979Arg)
c.2941T>A (p.Trp981Arg)
c.2857T>A (p.Trp953Arg)
c.2785T>A (p.Trp929Arg)
c.2719T>A (p.Trp907Arg)
c.2080T>A (p.Trp694Arg)
c.2698T>A (p.Trp900Arg)
9g.137813094T>CCA375793498EHMT1c.2956T>C (p.Trp986Arg)
c.2842T>C (p.Trp948Arg)
c.2863T>C (p.Trp955Arg)
c.2996T>C (n.2996T>C)
c.850T>C (p.Trp284Arg)
c.1813T>C (p.Trp605Arg)
c.643T>C
n.482T>C
c.2947T>C (p.Trp983Arg)
c.2938T>C (p.Trp980Arg)
c.2965T>C (p.Trp989Arg)
c.2962T>C (p.Trp988Arg)
c.2944T>C (p.Trp982Arg)
c.2887T>C (p.Trp963Arg)
c.2821T>C (p.Trp941Arg)
c.1387T>C (p.Trp463Arg)
c.739T>C (p.Trp247Arg)
c.526T>C (p.Trp176Arg)
c.2800T>C (p.Trp934Arg)
c.2935T>C (p.Trp979Arg)
c.2941T>C (p.Trp981Arg)
c.2857T>C (p.Trp953Arg)
c.2785T>C (p.Trp929Arg)
c.2719T>C (p.Trp907Arg)
c.2080T>C (p.Trp694Arg)
c.2698T>C (p.Trp900Arg)
9g.137813094T>GCA375793500EHMT1c.2956T>G (p.Trp986Gly)
c.2842T>G (p.Trp948Gly)
c.2863T>G (p.Trp955Gly)
c.2996T>G (n.2996T>G)
c.850T>G (p.Trp284Gly)
c.1813T>G (p.Trp605Gly)
c.643T>G
n.482T>G
c.2947T>G (p.Trp983Gly)
c.2938T>G (p.Trp980Gly)
c.2965T>G (p.Trp989Gly)
c.2962T>G (p.Trp988Gly)
c.2944T>G (p.Trp982Gly)
c.2887T>G (p.Trp963Gly)
c.2821T>G (p.Trp941Gly)
c.1387T>G (p.Trp463Gly)
c.739T>G (p.Trp247Gly)
c.526T>G (p.Trp176Gly)
c.2800T>G (p.Trp934Gly)
c.2935T>G (p.Trp979Gly)
c.2941T>G (p.Trp981Gly)
c.2857T>G (p.Trp953Gly)
c.2785T>G (p.Trp929Gly)
c.2719T>G (p.Trp907Gly)
c.2080T>G (p.Trp694Gly)
c.2698T>G (p.Trp900Gly)
9g.137813095G>ACA375793501EHMT1c.2957G>A (p.Trp986Ter)
c.2843G>A (p.Trp948Ter)
c.2864G>A (p.Trp955Ter)
c.2997G>A (n.2997G>A)
c.851G>A (p.Trp284Ter)
c.1814G>A (p.Trp605Ter)
c.644G>A
n.483G>A
c.2948G>A (p.Trp983Ter)
c.2939G>A (p.Trp980Ter)
c.2966G>A (p.Trp989Ter)
c.2963G>A (p.Trp988Ter)
c.2945G>A (p.Trp982Ter)
c.2888G>A (p.Trp963Ter)
c.2822G>A (p.Trp941Ter)
c.1388G>A (p.Trp463Ter)
c.740G>A (p.Trp247Ter)
c.527G>A (p.Trp176Ter)
c.2801G>A (p.Trp934Ter)
c.2936G>A (p.Trp979Ter)
c.2942G>A (p.Trp981Ter)
c.2858G>A (p.Trp953Ter)
c.2786G>A (p.Trp929Ter)
c.2720G>A (p.Trp907Ter)
c.2081G>A (p.Trp694Ter)
c.2699G>A (p.Trp900Ter)
9g.137813095G>CCA375793503EHMT1c.2957G>C (p.Trp986Ser)
c.2843G>C (p.Trp948Ser)
c.2864G>C (p.Trp955Ser)
c.2997G>C (n.2997G>C)
c.851G>C (p.Trp284Ser)
c.1814G>C (p.Trp605Ser)
c.644G>C
n.483G>C
c.2948G>C (p.Trp983Ser)
c.2939G>C (p.Trp980Ser)
c.2966G>C (p.Trp989Ser)
c.2963G>C (p.Trp988Ser)
c.2945G>C (p.Trp982Ser)
c.2888G>C (p.Trp963Ser)
c.2822G>C (p.Trp941Ser)
c.1388G>C (p.Trp463Ser)
c.740G>C (p.Trp247Ser)
c.527G>C (p.Trp176Ser)
c.2801G>C (p.Trp934Ser)
c.2936G>C (p.Trp979Ser)
c.2942G>C (p.Trp981Ser)
c.2858G>C (p.Trp953Ser)
c.2786G>C (p.Trp929Ser)
c.2720G>C (p.Trp907Ser)
c.2081G>C (p.Trp694Ser)
c.2699G>C (p.Trp900Ser)
9g.137813095G>TCA375793505EHMT1c.2957G>T (p.Trp986Leu)
c.2843G>T (p.Trp948Leu)
c.2864G>T (p.Trp955Leu)
c.2997G>T (n.2997G>T)
c.851G>T (p.Trp284Leu)
c.1814G>T (p.Trp605Leu)
c.644G>T
n.483G>T
c.2948G>T (p.Trp983Leu)
c.2939G>T (p.Trp980Leu)
c.2966G>T (p.Trp989Leu)
c.2963G>T (p.Trp988Leu)
c.2945G>T (p.Trp982Leu)
c.2888G>T (p.Trp963Leu)
c.2822G>T (p.Trp941Leu)
c.1388G>T (p.Trp463Leu)
c.740G>T (p.Trp247Leu)
c.527G>T (p.Trp176Leu)
c.2801G>T (p.Trp934Leu)
c.2936G>T (p.Trp979Leu)
c.2942G>T (p.Trp981Leu)
c.2858G>T (p.Trp953Leu)
c.2786G>T (p.Trp929Leu)
c.2720G>T (p.Trp907Leu)
c.2081G>T (p.Trp694Leu)
c.2699G>T (p.Trp900Leu)
9g.137813096G>ACA375793507EHMT1c.2958G>A (p.Trp986Ter)
c.2844G>A (p.Trp948Ter)
c.2865G>A (p.Trp955Ter)
c.2998G>A (n.2998G>A)
c.852G>A (p.Trp284Ter)
c.1815G>A (p.Trp605Ter)
c.645G>A
n.484G>A
c.2949G>A (p.Trp983Ter)
c.2940G>A (p.Trp980Ter)
c.2967G>A (p.Trp989Ter)
c.2964G>A (p.Trp988Ter)
c.2946G>A (p.Trp982Ter)
c.2889G>A (p.Trp963Ter)
c.2823G>A (p.Trp941Ter)
c.1389G>A (p.Trp463Ter)
c.741G>A (p.Trp247Ter)
c.528G>A (p.Trp176Ter)
c.2802G>A (p.Trp934Ter)
c.2937G>A (p.Trp979Ter)
c.2943G>A (p.Trp981Ter)
c.2859G>A (p.Trp953Ter)
c.2787G>A (p.Trp929Ter)
c.2721G>A (p.Trp907Ter)
c.2082G>A (p.Trp694Ter)
c.2700G>A (p.Trp900Ter)
 ClinVar dbSNP
9g.137813096G>CCA375793509EHMT1c.2958G>C (p.Trp986Cys)
c.2844G>C (p.Trp948Cys)
c.2865G>C (p.Trp955Cys)
c.2998G>C (n.2998G>C)
c.852G>C (p.Trp284Cys)
c.1815G>C (p.Trp605Cys)
c.645G>C
n.484G>C
c.2949G>C (p.Trp983Cys)
c.2940G>C (p.Trp980Cys)
c.2967G>C (p.Trp989Cys)
c.2964G>C (p.Trp988Cys)
c.2946G>C (p.Trp982Cys)
c.2889G>C (p.Trp963Cys)
c.2823G>C (p.Trp941Cys)
c.1389G>C (p.Trp463Cys)
c.741G>C (p.Trp247Cys)
c.528G>C (p.Trp176Cys)
c.2802G>C (p.Trp934Cys)
c.2937G>C (p.Trp979Cys)
c.2943G>C (p.Trp981Cys)
c.2859G>C (p.Trp953Cys)
c.2787G>C (p.Trp929Cys)
c.2721G>C (p.Trp907Cys)
c.2082G>C (p.Trp694Cys)
c.2700G>C (p.Trp900Cys)
9g.137813096G=CA1884685699EHMT1c.2958G= (p.Trp986=)
c.2844G= (p.Trp948=)
c.2865G= (p.Trp955=)
c.2998G= (n.2998G=)
c.852G= (p.Trp284=)
c.1815G= (p.Trp605=)
c.645G=
n.484G=
c.2949G= (p.Trp983=)
c.2940G= (p.Trp980=)
c.2967G= (p.Trp989=)
c.2964G= (p.Trp988=)
c.2946G= (p.Trp982=)
c.2889G= (p.Trp963=)
c.2823G= (p.Trp941=)
c.1389G= (p.Trp463=)
c.741G= (p.Trp247=)
c.528G= (p.Trp176=)
c.2802G= (p.Trp934=)
c.2937G= (p.Trp979=)
c.2943G= (p.Trp981=)
c.2859G= (p.Trp953=)
c.2787G= (p.Trp929=)
c.2721G= (p.Trp907=)
c.2082G= (p.Trp694=)
c.2700G= (p.Trp900=)
9g.137813096G>TCA375793511EHMT1c.2958G>T (p.Trp986Cys)
c.2844G>T (p.Trp948Cys)
c.2865G>T (p.Trp955Cys)
c.2998G>T (n.2998G>T)
c.852G>T (p.Trp284Cys)
c.1815G>T (p.Trp605Cys)
c.645G>T
n.484G>T
c.2949G>T (p.Trp983Cys)
c.2940G>T (p.Trp980Cys)
c.2967G>T (p.Trp989Cys)
c.2964G>T (p.Trp988Cys)
c.2946G>T (p.Trp982Cys)
c.2889G>T (p.Trp963Cys)
c.2823G>T (p.Trp941Cys)
c.1389G>T (p.Trp463Cys)
c.741G>T (p.Trp247Cys)
c.528G>T (p.Trp176Cys)
c.2802G>T (p.Trp934Cys)
c.2937G>T (p.Trp979Cys)
c.2943G>T (p.Trp981Cys)
c.2859G>T (p.Trp953Cys)
c.2787G>T (p.Trp929Cys)
c.2721G>T (p.Trp907Cys)
c.2082G>T (p.Trp694Cys)
c.2700G>T (p.Trp900Cys)
9g.137813097A=CA1884685700EHMT1c.2959A= (p.Ser987=)
c.2845A= (p.Ser949=)
c.2866A= (p.Ser956=)
c.2999A= (n.2999A=)
c.853A= (p.Ser285=)
c.1816A= (p.Ser606=)
c.646A=
n.485A=
c.2950A= (p.Ser984=)
c.2941A= (p.Ser981=)
c.2968A= (p.Ser990=)
c.2965A= (p.Ser989=)
c.2947A= (p.Ser983=)
c.2890A= (p.Ser964=)
c.2824A= (p.Ser942=)
c.1390A= (p.Ser464=)
c.742A= (p.Ser248=)
c.529A= (p.Ser177=)
c.2803A= (p.Ser935=)
c.2938A= (p.Ser980=)
c.2944A= (p.Ser982=)
c.2860A= (p.Ser954=)
c.2788A= (p.Ser930=)
c.2722A= (p.Ser908=)
c.2083A= (p.Ser695=)
c.2701A= (p.Ser901=)
9g.137813097A>CCA375793514EHMT1c.2959A>C (p.Ser987Arg)
c.2845A>C (p.Ser949Arg)
c.2866A>C (p.Ser956Arg)
c.2999A>C (n.2999A>C)
c.853A>C (p.Ser285Arg)
c.1816A>C (p.Ser606Arg)
c.646A>C
n.485A>C
c.2950A>C (p.Ser984Arg)
c.2941A>C (p.Ser981Arg)
c.2968A>C (p.Ser990Arg)
c.2965A>C (p.Ser989Arg)
c.2947A>C (p.Ser983Arg)
c.2890A>C (p.Ser964Arg)
c.2824A>C (p.Ser942Arg)
c.1390A>C (p.Ser464Arg)
c.742A>C (p.Ser248Arg)
c.529A>C (p.Ser177Arg)
c.2803A>C (p.Ser935Arg)
c.2938A>C (p.Ser980Arg)
c.2944A>C (p.Ser982Arg)
c.2860A>C (p.Ser954Arg)
c.2788A>C (p.Ser930Arg)
c.2722A>C (p.Ser908Arg)
c.2083A>C (p.Ser695Arg)
c.2701A>C (p.Ser901Arg)
9g.137813097A>GCA5375114EHMT1c.2959A>G (p.Ser987Gly)
c.2845A>G (p.Ser949Gly)
c.2866A>G (p.Ser956Gly)
c.2999A>G (n.2999A>G)
c.853A>G (p.Ser285Gly)
c.1816A>G (p.Ser606Gly)
c.646A>G
n.485A>G
c.2950A>G (p.Ser984Gly)
c.2941A>G (p.Ser981Gly)
c.2968A>G (p.Ser990Gly)
c.2965A>G (p.Ser989Gly)
c.2947A>G (p.Ser983Gly)
c.2890A>G (p.Ser964Gly)
c.2824A>G (p.Ser942Gly)
c.1390A>G (p.Ser464Gly)
c.742A>G (p.Ser248Gly)
c.529A>G (p.Ser177Gly)
c.2803A>G (p.Ser935Gly)
c.2938A>G (p.Ser980Gly)
c.2944A>G (p.Ser982Gly)
c.2860A>G (p.Ser954Gly)
c.2788A>G (p.Ser930Gly)
c.2722A>G (p.Ser908Gly)
c.2083A>G (p.Ser695Gly)
c.2701A>G (p.Ser901Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813097A>TCA375793517EHMT1c.2959A>T (p.Ser987Cys)
c.2845A>T (p.Ser949Cys)
c.2866A>T (p.Ser956Cys)
c.2999A>T (n.2999A>T)
c.853A>T (p.Ser285Cys)
c.1816A>T (p.Ser606Cys)
c.646A>T
n.485A>T
c.2950A>T (p.Ser984Cys)
c.2941A>T (p.Ser981Cys)
c.2968A>T (p.Ser990Cys)
c.2965A>T (p.Ser989Cys)
c.2947A>T (p.Ser983Cys)
c.2890A>T (p.Ser964Cys)
c.2824A>T (p.Ser942Cys)
c.1390A>T (p.Ser464Cys)
c.742A>T (p.Ser248Cys)
c.529A>T (p.Ser177Cys)
c.2803A>T (p.Ser935Cys)
c.2938A>T (p.Ser980Cys)
c.2944A>T (p.Ser982Cys)
c.2860A>T (p.Ser954Cys)
c.2788A>T (p.Ser930Cys)
c.2722A>T (p.Ser908Cys)
c.2083A>T (p.Ser695Cys)
c.2701A>T (p.Ser901Cys)
9g.137813098G>ACA5375115EHMT1c.2960G>A (p.Ser987Asn)
c.2846G>A (p.Ser949Asn)
c.2867G>A (p.Ser956Asn)
c.3000G>A (n.3000G>A)
c.854G>A (p.Ser285Asn)
c.1817G>A (p.Ser606Asn)
c.647G>A
n.486G>A
c.2951G>A (p.Ser984Asn)
c.2942G>A (p.Ser981Asn)
c.2969G>A (p.Ser990Asn)
c.2966G>A (p.Ser989Asn)
c.2948G>A (p.Ser983Asn)
c.2891G>A (p.Ser964Asn)
c.2825G>A (p.Ser942Asn)
c.1391G>A (p.Ser464Asn)
c.743G>A (p.Ser248Asn)
c.530G>A (p.Ser177Asn)
c.2804G>A (p.Ser935Asn)
c.2939G>A (p.Ser980Asn)
c.2945G>A (p.Ser982Asn)
c.2861G>A (p.Ser954Asn)
c.2789G>A (p.Ser930Asn)
c.2723G>A (p.Ser908Asn)
c.2084G>A (p.Ser695Asn)
c.2702G>A (p.Ser901Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813098G>CCA375793522EHMT1c.2960G>C (p.Ser987Thr)
c.2846G>C (p.Ser949Thr)
c.2867G>C (p.Ser956Thr)
c.3000G>C (n.3000G>C)
c.854G>C (p.Ser285Thr)
c.1817G>C (p.Ser606Thr)
c.647G>C
n.486G>C
c.2951G>C (p.Ser984Thr)
c.2942G>C (p.Ser981Thr)
c.2969G>C (p.Ser990Thr)
c.2966G>C (p.Ser989Thr)
c.2948G>C (p.Ser983Thr)
c.2891G>C (p.Ser964Thr)
c.2825G>C (p.Ser942Thr)
c.1391G>C (p.Ser464Thr)
c.743G>C (p.Ser248Thr)
c.530G>C (p.Ser177Thr)
c.2804G>C (p.Ser935Thr)
c.2939G>C (p.Ser980Thr)
c.2945G>C (p.Ser982Thr)
c.2861G>C (p.Ser954Thr)
c.2789G>C (p.Ser930Thr)
c.2723G>C (p.Ser908Thr)
c.2084G>C (p.Ser695Thr)
c.2702G>C (p.Ser901Thr)
9g.137813098G=CA1884685701EHMT1c.2960G= (p.Ser987=)
c.2846G= (p.Ser949=)
c.2867G= (p.Ser956=)
c.3000G= (n.3000G=)
c.854G= (p.Ser285=)
c.1817G= (p.Ser606=)
c.647G=
n.486G=
c.2951G= (p.Ser984=)
c.2942G= (p.Ser981=)
c.2969G= (p.Ser990=)
c.2966G= (p.Ser989=)
c.2948G= (p.Ser983=)
c.2891G= (p.Ser964=)
c.2825G= (p.Ser942=)
c.1391G= (p.Ser464=)
c.743G= (p.Ser248=)
c.530G= (p.Ser177=)
c.2804G= (p.Ser935=)
c.2939G= (p.Ser980=)
c.2945G= (p.Ser982=)
c.2861G= (p.Ser954=)
c.2789G= (p.Ser930=)
c.2723G= (p.Ser908=)
c.2084G= (p.Ser695=)
c.2702G= (p.Ser901=)
9g.137813098G>TCA375793520EHMT1c.2960G>T (p.Ser987Ile)
c.2846G>T (p.Ser949Ile)
c.2867G>T (p.Ser956Ile)
c.3000G>T (n.3000G>T)
c.854G>T (p.Ser285Ile)
c.1817G>T (p.Ser606Ile)
c.647G>T
n.486G>T
c.2951G>T (p.Ser984Ile)
c.2942G>T (p.Ser981Ile)
c.2969G>T (p.Ser990Ile)
c.2966G>T (p.Ser989Ile)
c.2948G>T (p.Ser983Ile)
c.2891G>T (p.Ser964Ile)
c.2825G>T (p.Ser942Ile)
c.1391G>T (p.Ser464Ile)
c.743G>T (p.Ser248Ile)
c.530G>T (p.Ser177Ile)
c.2804G>T (p.Ser935Ile)
c.2939G>T (p.Ser980Ile)
c.2945G>T (p.Ser982Ile)
c.2861G>T (p.Ser954Ile)
c.2789G>T (p.Ser930Ile)
c.2723G>T (p.Ser908Ile)
c.2084G>T (p.Ser695Ile)
c.2702G>T (p.Ser901Ile)
9g.137813099C>ACA375793523EHMT1c.2961C>A (p.Ser987Arg)
c.2847C>A (p.Ser949Arg)
c.2868C>A (p.Ser956Arg)
c.3001C>A (n.3001C>A)
c.855C>A (p.Ser285Arg)
c.1818C>A (p.Ser606Arg)
c.648C>A
n.487C>A
c.2952C>A (p.Ser984Arg)
c.2943C>A (p.Ser981Arg)
c.2970C>A (p.Ser990Arg)
c.2967C>A (p.Ser989Arg)
c.2949C>A (p.Ser983Arg)
c.2892C>A (p.Ser964Arg)
c.2826C>A (p.Ser942Arg)
c.1392C>A (p.Ser464Arg)
c.744C>A (p.Ser248Arg)
c.531C>A (p.Ser177Arg)
c.2805C>A (p.Ser935Arg)
c.2940C>A (p.Ser980Arg)
c.2946C>A (p.Ser982Arg)
c.2862C>A (p.Ser954Arg)
c.2790C>A (p.Ser930Arg)
c.2724C>A (p.Ser908Arg)
c.2085C>A (p.Ser695Arg)
c.2703C>A (p.Ser901Arg)
9g.137813099C=CA1884685702EHMT1c.2961C= (p.Ser987=)
c.2847C= (p.Ser949=)
c.2868C= (p.Ser956=)
c.3001C= (n.3001C=)
c.855C= (p.Ser285=)
c.1818C= (p.Ser606=)
c.648C=
n.487C=
c.2952C= (p.Ser984=)
c.2943C= (p.Ser981=)
c.2970C= (p.Ser990=)
c.2967C= (p.Ser989=)
c.2949C= (p.Ser983=)
c.2892C= (p.Ser964=)
c.2826C= (p.Ser942=)
c.1392C= (p.Ser464=)
c.744C= (p.Ser248=)
c.531C= (p.Ser177=)
c.2805C= (p.Ser935=)
c.2940C= (p.Ser980=)
c.2946C= (p.Ser982=)
c.2862C= (p.Ser954=)
c.2790C= (p.Ser930=)
c.2724C= (p.Ser908=)
c.2085C= (p.Ser695=)
c.2703C= (p.Ser901=)
9g.137813099C>GCA375793527EHMT1c.2961C>G (p.Ser987Arg)
c.2847C>G (p.Ser949Arg)
c.2868C>G (p.Ser956Arg)
c.3001C>G (n.3001C>G)
c.855C>G (p.Ser285Arg)
c.1818C>G (p.Ser606Arg)
c.648C>G
n.487C>G
c.2952C>G (p.Ser984Arg)
c.2943C>G (p.Ser981Arg)
c.2970C>G (p.Ser990Arg)
c.2967C>G (p.Ser989Arg)
c.2949C>G (p.Ser983Arg)
c.2892C>G (p.Ser964Arg)
c.2826C>G (p.Ser942Arg)
c.1392C>G (p.Ser464Arg)
c.744C>G (p.Ser248Arg)
c.531C>G (p.Ser177Arg)
c.2805C>G (p.Ser935Arg)
c.2940C>G (p.Ser980Arg)
c.2946C>G (p.Ser982Arg)
c.2862C>G (p.Ser954Arg)
c.2790C>G (p.Ser930Arg)
c.2724C>G (p.Ser908Arg)
c.2085C>G (p.Ser695Arg)
c.2703C>G (p.Ser901Arg)
9g.137813099C>TCA201843263EHMT1c.2961C>T (p.Ser987=)
c.2847C>T (p.Ser949=)
c.2868C>T (p.Ser956=)
c.3001C>T (n.3001C>T)
c.855C>T (p.Ser285=)
c.1818C>T (p.Ser606=)
c.648C>T
n.487C>T
c.2952C>T (p.Ser984=)
c.2943C>T (p.Ser981=)
c.2970C>T (p.Ser990=)
c.2967C>T (p.Ser989=)
c.2949C>T (p.Ser983=)
c.2892C>T (p.Ser964=)
c.2826C>T (p.Ser942=)
c.1392C>T (p.Ser464=)
c.744C>T (p.Ser248=)
c.531C>T (p.Ser177=)
c.2805C>T (p.Ser935=)
c.2940C>T (p.Ser980=)
c.2946C>T (p.Ser982=)
c.2862C>T (p.Ser954=)
c.2790C>T (p.Ser930=)
c.2724C>T (p.Ser908=)
c.2085C>T (p.Ser695=)
c.2703C>T (p.Ser901=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813100G>ACA5375116EHMT1c.2962G>A (p.Ala988Thr)
c.2848G>A (p.Ala950Thr)
c.2869G>A (p.Ala957Thr)
c.3002G>A (n.3002G>A)
c.856G>A (p.Ala286Thr)
c.1819G>A (p.Ala607Thr)
c.649G>A
n.488G>A
c.2953G>A (p.Ala985Thr)
c.2944G>A (p.Ala982Thr)
c.2971G>A (p.Ala991Thr)
c.2968G>A (p.Ala990Thr)
c.2950G>A (p.Ala984Thr)
c.2893G>A (p.Ala965Thr)
c.2827G>A (p.Ala943Thr)
c.1393G>A (p.Ala465Thr)
c.745G>A (p.Ala249Thr)
c.532G>A (p.Ala178Thr)
c.2806G>A (p.Ala936Thr)
c.2941G>A (p.Ala981Thr)
c.2947G>A (p.Ala983Thr)
c.2863G>A (p.Ala955Thr)
c.2791G>A (p.Ala931Thr)
c.2725G>A (p.Ala909Thr)
c.2086G>A (p.Ala696Thr)
c.2704G>A (p.Ala902Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137813100G>CCA375793529EHMT1c.2962G>C (p.Ala988Pro)
c.2848G>C (p.Ala950Pro)
c.2869G>C (p.Ala957Pro)
c.3002G>C (n.3002G>C)
c.856G>C (p.Ala286Pro)
c.1819G>C (p.Ala607Pro)
c.649G>C
n.488G>C
c.2953G>C (p.Ala985Pro)
c.2944G>C (p.Ala982Pro)
c.2971G>C (p.Ala991Pro)
c.2968G>C (p.Ala990Pro)
c.2950G>C (p.Ala984Pro)
c.2893G>C (p.Ala965Pro)
c.2827G>C (p.Ala943Pro)
c.1393G>C (p.Ala465Pro)
c.745G>C (p.Ala249Pro)
c.532G>C (p.Ala178Pro)
c.2806G>C (p.Ala936Pro)
c.2941G>C (p.Ala981Pro)
c.2947G>C (p.Ala983Pro)
c.2863G>C (p.Ala955Pro)
c.2791G>C (p.Ala931Pro)
c.2725G>C (p.Ala909Pro)
c.2086G>C (p.Ala696Pro)
c.2704G>C (p.Ala902Pro)
9g.137813100G=CA1884685703EHMT1c.2962G= (p.Ala988=)
c.2848G= (p.Ala950=)
c.2869G= (p.Ala957=)
c.3002G= (n.3002G=)
c.856G= (p.Ala286=)
c.1819G= (p.Ala607=)
c.649G=
n.488G=
c.2953G= (p.Ala985=)
c.2944G= (p.Ala982=)
c.2971G= (p.Ala991=)
c.2968G= (p.Ala990=)
c.2950G= (p.Ala984=)
c.2893G= (p.Ala965=)
c.2827G= (p.Ala943=)
c.1393G= (p.Ala465=)
c.745G= (p.Ala249=)
c.532G= (p.Ala178=)
c.2806G= (p.Ala936=)
c.2941G= (p.Ala981=)
c.2947G= (p.Ala983=)
c.2863G= (p.Ala955=)
c.2791G= (p.Ala931=)
c.2725G= (p.Ala909=)
c.2086G= (p.Ala696=)
c.2704G= (p.Ala902=)
9g.137813100G>TCA375793531EHMT1c.2962G>T (p.Ala988Ser)
c.2848G>T (p.Ala950Ser)
c.2869G>T (p.Ala957Ser)
c.3002G>T (n.3002G>T)
c.856G>T (p.Ala286Ser)
c.1819G>T (p.Ala607Ser)
c.649G>T
n.488G>T
c.2953G>T (p.Ala985Ser)
c.2944G>T (p.Ala982Ser)
c.2971G>T (p.Ala991Ser)
c.2968G>T (p.Ala990Ser)
c.2950G>T (p.Ala984Ser)
c.2893G>T (p.Ala965Ser)
c.2827G>T (p.Ala943Ser)
c.1393G>T (p.Ala465Ser)
c.745G>T (p.Ala249Ser)
c.532G>T (p.Ala178Ser)
c.2806G>T (p.Ala936Ser)
c.2941G>T (p.Ala981Ser)
c.2947G>T (p.Ala983Ser)
c.2863G>T (p.Ala955Ser)
c.2791G>T (p.Ala931Ser)
c.2725G>T (p.Ala909Ser)
c.2086G>T (p.Ala696Ser)
c.2704G>T (p.Ala902Ser)
9g.137813109_137813126dupCA2692890675EHMT1c.2971_2988dup (p.Gln996_Asp997insMetSerLysAlaLeuGln)
c.2857_2874dup (p.Gln958_Asp959insMetSerLysAlaLeuGln)
c.2878_2895dup (p.Gln965_Asp966insMetSerLysAlaLeuGln)
c.3011_3028dup (n.3011_3028dup)
c.865_882dup (p.Gln294_Asp295insMetSerLysAlaLeuGln)
c.1828_1845dup (p.Gln615_Asp616insMetSerLysAlaLeuGln)
c.658_675dup
n.497_514dup
c.2962_2979dup (p.Gln993_Asp994insMetSerLysAlaLeuGln)
c.2953_2970dup (p.Gln990_Asp991insMetSerLysAlaLeuGln)
c.2980_2997dup (p.Gln999_Asp1000insMetSerLysAlaLeuGln)
c.2977_2994dup (p.Gln998_Asp999insMetSerLysAlaLeuGln)
c.2959_2976dup (p.Gln992_Asp993insMetSerLysAlaLeuGln)
c.2902_2919dup (p.Gln973_Asp974insMetSerLysAlaLeuGln)
c.2836_2853dup (p.Gln951_Asp952insMetSerLysAlaLeuGln)
c.1402_1419dup (p.Gln473_Asp474insMetSerLysAlaLeuGln)
c.754_771dup (p.Gln257_Asp258insMetSerLysAlaLeuGln)
c.541_558dup (p.Gln186_Asp187insMetSerLysAlaLeuGln)
c.2815_2832dup (p.Gln944_Asp945insMetSerLysAlaLeuGln)
c.2950_2967dup (p.Gln989_Asp990insMetSerLysAlaLeuGln)
c.2956_2973dup (p.Gln991_Asp992insMetSerLysAlaLeuGln)
c.2872_2889dup (p.Gln963_Asp964insMetSerLysAlaLeuGln)
c.2800_2817dup (p.Gln939_Asp940insMetSerLysAlaLeuGln)
c.2734_2751dup (p.Gln917_Asp918insMetSerLysAlaLeuGln)
c.2095_2112dup (p.Gln704_Asp705insMetSerLysAlaLeuGln)
c.2713_2730dup (p.Gln910_Asp911insMetSerLysAlaLeuGln)
 gnomAD v4
9g.137813101C>ACA375793534EHMT1c.2963C>A (p.Ala988Asp)
c.2849C>A (p.Ala950Asp)
c.2870C>A (p.Ala957Asp)
c.3003C>A (n.3003C>A)
c.857C>A (p.Ala286Asp)
c.1820C>A (p.Ala607Asp)
c.650C>A
n.489C>A
c.2954C>A (p.Ala985Asp)
c.2945C>A (p.Ala982Asp)
c.2972C>A (p.Ala991Asp)
c.2969C>A (p.Ala990Asp)
c.2951C>A (p.Ala984Asp)
c.2894C>A (p.Ala965Asp)
c.2828C>A (p.Ala943Asp)
c.1394C>A (p.Ala465Asp)
c.746C>A (p.Ala249Asp)
c.533C>A (p.Ala178Asp)
c.2807C>A (p.Ala936Asp)
c.2942C>A (p.Ala981Asp)
c.2948C>A (p.Ala983Asp)
c.2864C>A (p.Ala955Asp)
c.2792C>A (p.Ala931Asp)
c.2726C>A (p.Ala909Asp)
c.2087C>A (p.Ala696Asp)
c.2705C>A (p.Ala902Asp)
9g.137813101C=CA1884685704EHMT1c.2963C= (p.Ala988=)
c.2849C= (p.Ala950=)
c.2870C= (p.Ala957=)
c.3003C= (n.3003C=)
c.857C= (p.Ala286=)
c.1820C= (p.Ala607=)
c.650C=
n.489C=
c.2954C= (p.Ala985=)
c.2945C= (p.Ala982=)
c.2972C= (p.Ala991=)
c.2969C= (p.Ala990=)
c.2951C= (p.Ala984=)
c.2894C= (p.Ala965=)
c.2828C= (p.Ala943=)
c.1394C= (p.Ala465=)
c.746C= (p.Ala249=)
c.533C= (p.Ala178=)
c.2807C= (p.Ala936=)
c.2942C= (p.Ala981=)
c.2948C= (p.Ala983=)
c.2864C= (p.Ala955=)
c.2792C= (p.Ala931=)
c.2726C= (p.Ala909=)
c.2087C= (p.Ala696=)
c.2705C= (p.Ala902=)
9g.137813101C>GCA375793536EHMT1c.2963C>G (p.Ala988Gly)
c.2849C>G (p.Ala950Gly)
c.2870C>G (p.Ala957Gly)
c.3003C>G (n.3003C>G)
c.857C>G (p.Ala286Gly)
c.1820C>G (p.Ala607Gly)
c.650C>G
n.489C>G
c.2954C>G (p.Ala985Gly)
c.2945C>G (p.Ala982Gly)
c.2972C>G (p.Ala991Gly)
c.2969C>G (p.Ala990Gly)
c.2951C>G (p.Ala984Gly)
c.2894C>G (p.Ala965Gly)
c.2828C>G (p.Ala943Gly)
c.1394C>G (p.Ala465Gly)
c.746C>G (p.Ala249Gly)
c.533C>G (p.Ala178Gly)
c.2807C>G (p.Ala936Gly)
c.2942C>G (p.Ala981Gly)
c.2948C>G (p.Ala983Gly)
c.2864C>G (p.Ala955Gly)
c.2792C>G (p.Ala931Gly)
c.2726C>G (p.Ala909Gly)
c.2087C>G (p.Ala696Gly)
c.2705C>G (p.Ala902Gly)
9g.137813101C>TCA375793538EHMT1c.2963C>T (p.Ala988Val)
c.2849C>T (p.Ala950Val)
c.2870C>T (p.Ala957Val)
c.3003C>T (n.3003C>T)
c.857C>T (p.Ala286Val)
c.1820C>T (p.Ala607Val)
c.650C>T
n.489C>T
c.2954C>T (p.Ala985Val)
c.2945C>T (p.Ala982Val)
c.2972C>T (p.Ala991Val)
c.2969C>T (p.Ala990Val)
c.2951C>T (p.Ala984Val)
c.2894C>T (p.Ala965Val)
c.2828C>T (p.Ala943Val)
c.1394C>T (p.Ala465Val)
c.746C>T (p.Ala249Val)
c.533C>T (p.Ala178Val)
c.2807C>T (p.Ala936Val)
c.2942C>T (p.Ala981Val)
c.2948C>T (p.Ala983Val)
c.2864C>T (p.Ala955Val)
c.2792C>T (p.Ala931Val)
c.2726C>T (p.Ala909Val)
c.2087C>T (p.Ala696Val)
c.2705C>T (p.Ala902Val)
 ClinVar dbSNP gnomAD v4
9g.137813102T>ACA468161070EHMT1c.2964T>A (p.Ala988=)
c.2850T>A (p.Ala950=)
c.2871T>A (p.Ala957=)
c.3004T>A (n.3004T>A)
c.858T>A (p.Ala286=)
c.1821T>A (p.Ala607=)
c.651T>A
n.490T>A
c.2955T>A (p.Ala985=)
c.2946T>A (p.Ala982=)
c.2973T>A (p.Ala991=)
c.2970T>A (p.Ala990=)
c.2952T>A (p.Ala984=)
c.2895T>A (p.Ala965=)
c.2829T>A (p.Ala943=)
c.1395T>A (p.Ala465=)
c.747T>A (p.Ala249=)
c.534T>A (p.Ala178=)
c.2808T>A (p.Ala936=)
c.2943T>A (p.Ala981=)
c.2949T>A (p.Ala983=)
c.2865T>A (p.Ala955=)
c.2793T>A (p.Ala931=)
c.2727T>A (p.Ala909=)
c.2088T>A (p.Ala696=)
c.2706T>A (p.Ala902=)
9g.137813102T>CCA468161071EHMT1c.2964T>C (p.Ala988=)
c.2850T>C (p.Ala950=)
c.2871T>C (p.Ala957=)
c.3004T>C (n.3004T>C)
c.858T>C (p.Ala286=)
c.1821T>C (p.Ala607=)
c.651T>C
n.490T>C
c.2955T>C (p.Ala985=)
c.2946T>C (p.Ala982=)
c.2973T>C (p.Ala991=)
c.2970T>C (p.Ala990=)
c.2952T>C (p.Ala984=)
c.2895T>C (p.Ala965=)
c.2829T>C (p.Ala943=)
c.1395T>C (p.Ala465=)
c.747T>C (p.Ala249=)
c.534T>C (p.Ala178=)
c.2808T>C (p.Ala936=)
c.2943T>C (p.Ala981=)
c.2949T>C (p.Ala983=)
c.2865T>C (p.Ala955=)
c.2793T>C (p.Ala931=)
c.2727T>C (p.Ala909=)
c.2088T>C (p.Ala696=)
c.2706T>C (p.Ala902=)
9g.137813102T>GCA468161072EHMT1c.2964T>G (p.Ala988=)
c.2850T>G (p.Ala950=)
c.2871T>G (p.Ala957=)
c.3004T>G (n.3004T>G)
c.858T>G (p.Ala286=)
c.1821T>G (p.Ala607=)
c.651T>G
n.490T>G
c.2955T>G (p.Ala985=)
c.2946T>G (p.Ala982=)
c.2973T>G (p.Ala991=)
c.2970T>G (p.Ala990=)
c.2952T>G (p.Ala984=)
c.2895T>G (p.Ala965=)
c.2829T>G (p.Ala943=)
c.1395T>G (p.Ala465=)
c.747T>G (p.Ala249=)
c.534T>G (p.Ala178=)
c.2808T>G (p.Ala936=)
c.2943T>G (p.Ala981=)
c.2949T>G (p.Ala983=)
c.2865T>G (p.Ala955=)
c.2793T>G (p.Ala931=)
c.2727T>G (p.Ala909=)
c.2088T>G (p.Ala696=)
c.2706T>G (p.Ala902=)
 COSMIC COSMIC
9g.137813103C>ACA375793541EHMT1c.2965C>A (p.Leu989Met)
c.2851C>A (p.Leu951Met)
c.2872C>A (p.Leu958Met)
c.3005C>A (n.3005C>A)
c.859C>A (p.Leu287Met)
c.1822C>A (p.Leu608Met)
c.652C>A
n.491C>A
c.2956C>A (p.Leu986Met)
c.2947C>A (p.Leu983Met)
c.2974C>A (p.Leu992Met)
c.2971C>A (p.Leu991Met)
c.2953C>A (p.Leu985Met)
c.2896C>A (p.Leu966Met)
c.2830C>A (p.Leu944Met)
c.1396C>A (p.Leu466Met)
c.748C>A (p.Leu250Met)
c.535C>A (p.Leu179Met)
c.2809C>A (p.Leu937Met)
c.2944C>A (p.Leu982Met)
c.2950C>A (p.Leu984Met)
c.2866C>A (p.Leu956Met)
c.2794C>A (p.Leu932Met)
c.2728C>A (p.Leu910Met)
c.2089C>A (p.Leu697Met)
c.2707C>A (p.Leu903Met)
 gnomAD v4
9g.137813103C=CA1884685705EHMT1c.2965C= (p.Leu989=)
c.2851C= (p.Leu951=)
c.2872C= (p.Leu958=)
c.3005C= (n.3005C=)
c.859C= (p.Leu287=)
c.1822C= (p.Leu608=)
c.652C=
n.491C=
c.2956C= (p.Leu986=)
c.2947C= (p.Leu983=)
c.2974C= (p.Leu992=)
c.2971C= (p.Leu991=)
c.2953C= (p.Leu985=)
c.2896C= (p.Leu966=)
c.2830C= (p.Leu944=)
c.1396C= (p.Leu466=)
c.748C= (p.Leu250=)
c.535C= (p.Leu179=)
c.2809C= (p.Leu937=)
c.2944C= (p.Leu982=)
c.2950C= (p.Leu984=)
c.2866C= (p.Leu956=)
c.2794C= (p.Leu932=)
c.2728C= (p.Leu910=)
c.2089C= (p.Leu697=)
c.2707C= (p.Leu903=)
9g.137813103C>GCA375793543EHMT1c.2965C>G (p.Leu989Val)
c.2851C>G (p.Leu951Val)
c.2872C>G (p.Leu958Val)
c.3005C>G (n.3005C>G)
c.859C>G (p.Leu287Val)
c.1822C>G (p.Leu608Val)
c.652C>G
n.491C>G
c.2956C>G (p.Leu986Val)
c.2947C>G (p.Leu983Val)
c.2974C>G (p.Leu992Val)
c.2971C>G (p.Leu991Val)
c.2953C>G (p.Leu985Val)
c.2896C>G (p.Leu966Val)
c.2830C>G (p.Leu944Val)
c.1396C>G (p.Leu466Val)
c.748C>G (p.Leu250Val)
c.535C>G (p.Leu179Val)
c.2809C>G (p.Leu937Val)
c.2944C>G (p.Leu982Val)
c.2950C>G (p.Leu984Val)
c.2866C>G (p.Leu956Val)
c.2794C>G (p.Leu932Val)
c.2728C>G (p.Leu910Val)
c.2089C>G (p.Leu697Val)
c.2707C>G (p.Leu903Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137813103C>TCA468161073EHMT1c.2965C>T (p.Leu989=)
c.2851C>T (p.Leu951=)
c.2872C>T (p.Leu958=)
c.3005C>T (n.3005C>T)
c.859C>T (p.Leu287=)
c.1822C>T (p.Leu608=)
c.652C>T
n.491C>T
c.2956C>T (p.Leu986=)
c.2947C>T (p.Leu983=)
c.2974C>T (p.Leu992=)
c.2971C>T (p.Leu991=)
c.2953C>T (p.Leu985=)
c.2896C>T (p.Leu966=)
c.2830C>T (p.Leu944=)
c.1396C>T (p.Leu466=)
c.748C>T (p.Leu250=)
c.535C>T (p.Leu179=)
c.2809C>T (p.Leu937=)
c.2944C>T (p.Leu982=)
c.2950C>T (p.Leu984=)
c.2866C>T (p.Leu956=)
c.2794C>T (p.Leu932=)
c.2728C>T (p.Leu910=)
c.2089C>T (p.Leu697=)
c.2707C>T (p.Leu903=)
9g.137813104T>ACA375793544EHMT1c.2966T>A (p.Leu989Gln)
c.2852T>A (p.Leu951Gln)
c.2873T>A (p.Leu958Gln)
c.3006T>A (n.3006T>A)
c.860T>A (p.Leu287Gln)
c.1823T>A (p.Leu608Gln)
c.653T>A
n.492T>A
c.2957T>A (p.Leu986Gln)
c.2948T>A (p.Leu983Gln)
c.2975T>A (p.Leu992Gln)
c.2972T>A (p.Leu991Gln)
c.2954T>A (p.Leu985Gln)
c.2897T>A (p.Leu966Gln)
c.2831T>A (p.Leu944Gln)
c.1397T>A (p.Leu466Gln)
c.749T>A (p.Leu250Gln)
c.536T>A (p.Leu179Gln)
c.2810T>A (p.Leu937Gln)
c.2945T>A (p.Leu982Gln)
c.2951T>A (p.Leu984Gln)
c.2867T>A (p.Leu956Gln)
c.2795T>A (p.Leu932Gln)
c.2729T>A (p.Leu910Gln)
c.2090T>A (p.Leu697Gln)
c.2708T>A (p.Leu903Gln)
9g.137813104T>CCA375793546EHMT1c.2966T>C (p.Leu989Pro)
c.2852T>C (p.Leu951Pro)
c.2873T>C (p.Leu958Pro)
c.3006T>C (n.3006T>C)
c.860T>C (p.Leu287Pro)
c.1823T>C (p.Leu608Pro)
c.653T>C
n.492T>C
c.2957T>C (p.Leu986Pro)
c.2948T>C (p.Leu983Pro)
c.2975T>C (p.Leu992Pro)
c.2972T>C (p.Leu991Pro)
c.2954T>C (p.Leu985Pro)
c.2897T>C (p.Leu966Pro)
c.2831T>C (p.Leu944Pro)
c.1397T>C (p.Leu466Pro)
c.749T>C (p.Leu250Pro)
c.536T>C (p.Leu179Pro)
c.2810T>C (p.Leu937Pro)
c.2945T>C (p.Leu982Pro)
c.2951T>C (p.Leu984Pro)
c.2867T>C (p.Leu956Pro)
c.2795T>C (p.Leu932Pro)
c.2729T>C (p.Leu910Pro)
c.2090T>C (p.Leu697Pro)
c.2708T>C (p.Leu903Pro)
9g.137813104T>GCA375793548EHMT1c.2966T>G (p.Leu989Arg)
c.2852T>G (p.Leu951Arg)
c.2873T>G (p.Leu958Arg)
c.3006T>G (n.3006T>G)
c.860T>G (p.Leu287Arg)
c.1823T>G (p.Leu608Arg)
c.653T>G
n.492T>G
c.2957T>G (p.Leu986Arg)
c.2948T>G (p.Leu983Arg)
c.2975T>G (p.Leu992Arg)
c.2972T>G (p.Leu991Arg)
c.2954T>G (p.Leu985Arg)
c.2897T>G (p.Leu966Arg)
c.2831T>G (p.Leu944Arg)
c.1397T>G (p.Leu466Arg)
c.749T>G (p.Leu250Arg)
c.536T>G (p.Leu179Arg)
c.2810T>G (p.Leu937Arg)
c.2945T>G (p.Leu982Arg)
c.2951T>G (p.Leu984Arg)
c.2867T>G (p.Leu956Arg)
c.2795T>G (p.Leu932Arg)
c.2729T>G (p.Leu910Arg)
c.2090T>G (p.Leu697Arg)
c.2708T>G (p.Leu903Arg)
9g.137813105G>ACA201843272EHMT1c.2967G>A (p.Leu989=)
c.2853G>A (p.Leu951=)
c.2874G>A (p.Leu958=)
c.3007G>A (n.3007G>A)
c.861G>A (p.Leu287=)
c.1824G>A (p.Leu608=)
c.654G>A
n.493G>A
c.2958G>A (p.Leu986=)
c.2949G>A (p.Leu983=)
c.2976G>A (p.Leu992=)
c.2973G>A (p.Leu991=)
c.2955G>A (p.Leu985=)
c.2898G>A (p.Leu966=)
c.2832G>A (p.Leu944=)
c.1398G>A (p.Leu466=)
c.750G>A (p.Leu250=)
c.537G>A (p.Leu179=)
c.2811G>A (p.Leu937=)
c.2946G>A (p.Leu982=)
c.2952G>A (p.Leu984=)
c.2868G>A (p.Leu956=)
c.2796G>A (p.Leu932=)
c.2730G>A (p.Leu910=)
c.2091G>A (p.Leu697=)
c.2709G>A (p.Leu903=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813105G>CCA468161074EHMT1c.2967G>C (p.Leu989=)
c.2853G>C (p.Leu951=)
c.2874G>C (p.Leu958=)
c.3007G>C (n.3007G>C)
c.861G>C (p.Leu287=)
c.1824G>C (p.Leu608=)
c.654G>C
n.493G>C
c.2958G>C (p.Leu986=)
c.2949G>C (p.Leu983=)
c.2976G>C (p.Leu992=)
c.2973G>C (p.Leu991=)
c.2955G>C (p.Leu985=)
c.2898G>C (p.Leu966=)
c.2832G>C (p.Leu944=)
c.1398G>C (p.Leu466=)
c.750G>C (p.Leu250=)
c.537G>C (p.Leu179=)
c.2811G>C (p.Leu937=)
c.2946G>C (p.Leu982=)
c.2952G>C (p.Leu984=)
c.2868G>C (p.Leu956=)
c.2796G>C (p.Leu932=)
c.2730G>C (p.Leu910=)
c.2091G>C (p.Leu697=)
c.2709G>C (p.Leu903=)
9g.137813105G=CA1884685706EHMT1c.2967G= (p.Leu989=)
c.2853G= (p.Leu951=)
c.2874G= (p.Leu958=)
c.3007G= (n.3007G=)
c.861G= (p.Leu287=)
c.1824G= (p.Leu608=)
c.654G=
n.493G=
c.2958G= (p.Leu986=)
c.2949G= (p.Leu983=)
c.2976G= (p.Leu992=)
c.2973G= (p.Leu991=)
c.2955G= (p.Leu985=)
c.2898G= (p.Leu966=)
c.2832G= (p.Leu944=)
c.1398G= (p.Leu466=)
c.750G= (p.Leu250=)
c.537G= (p.Leu179=)
c.2811G= (p.Leu937=)
c.2946G= (p.Leu982=)
c.2952G= (p.Leu984=)
c.2868G= (p.Leu956=)
c.2796G= (p.Leu932=)
c.2730G= (p.Leu910=)
c.2091G= (p.Leu697=)
c.2709G= (p.Leu903=)
9g.137813105G>TCA468161075EHMT1c.2967G>T (p.Leu989=)
c.2853G>T (p.Leu951=)
c.2874G>T (p.Leu958=)
c.3007G>T (n.3007G>T)
c.861G>T (p.Leu287=)
c.1824G>T (p.Leu608=)
c.654G>T
n.493G>T
c.2958G>T (p.Leu986=)
c.2949G>T (p.Leu983=)
c.2976G>T (p.Leu992=)
c.2973G>T (p.Leu991=)
c.2955G>T (p.Leu985=)
c.2898G>T (p.Leu966=)
c.2832G>T (p.Leu944=)
c.1398G>T (p.Leu466=)
c.750G>T (p.Leu250=)
c.537G>T (p.Leu179=)
c.2811G>T (p.Leu937=)
c.2946G>T (p.Leu982=)
c.2952G>T (p.Leu984=)
c.2868G>T (p.Leu956=)
c.2796G>T (p.Leu932=)
c.2730G>T (p.Leu910=)
c.2091G>T (p.Leu697=)
c.2709G>T (p.Leu903=)
 gnomAD v4
9g.137813106C>ACA375793556EHMT1c.2968C>A (p.Gln990Lys)
c.2854C>A (p.Gln952Lys)
c.2875C>A (p.Gln959Lys)
c.3008C>A (n.3008C>A)
c.862C>A (p.Gln288Lys)
c.1825C>A (p.Gln609Lys)
c.655C>A
n.494C>A
c.2959C>A (p.Gln987Lys)
c.2950C>A (p.Gln984Lys)
c.2977C>A (p.Gln993Lys)
c.2974C>A (p.Gln992Lys)
c.2956C>A (p.Gln986Lys)
c.2899C>A (p.Gln967Lys)
c.2833C>A (p.Gln945Lys)
c.1399C>A (p.Gln467Lys)
c.751C>A (p.Gln251Lys)
c.538C>A (p.Gln180Lys)
c.2812C>A (p.Gln938Lys)
c.2947C>A (p.Gln983Lys)
c.2953C>A (p.Gln985Lys)
c.2869C>A (p.Gln957Lys)
c.2797C>A (p.Gln933Lys)
c.2731C>A (p.Gln911Lys)
c.2092C>A (p.Gln698Lys)
c.2710C>A (p.Gln904Lys)
9g.137813106C>GCA375793552EHMT1c.2968C>G (p.Gln990Glu)
c.2854C>G (p.Gln952Glu)
c.2875C>G (p.Gln959Glu)
c.3008C>G (n.3008C>G)
c.862C>G (p.Gln288Glu)
c.1825C>G (p.Gln609Glu)
c.655C>G
n.494C>G
c.2959C>G (p.Gln987Glu)
c.2950C>G (p.Gln984Glu)
c.2977C>G (p.Gln993Glu)
c.2974C>G (p.Gln992Glu)
c.2956C>G (p.Gln986Glu)
c.2899C>G (p.Gln967Glu)
c.2833C>G (p.Gln945Glu)
c.1399C>G (p.Gln467Glu)
c.751C>G (p.Gln251Glu)
c.538C>G (p.Gln180Glu)
c.2812C>G (p.Gln938Glu)
c.2947C>G (p.Gln983Glu)
c.2953C>G (p.Gln985Glu)
c.2869C>G (p.Gln957Glu)
c.2797C>G (p.Gln933Glu)
c.2731C>G (p.Gln911Glu)
c.2092C>G (p.Gln698Glu)
c.2710C>G (p.Gln904Glu)
9g.137813106C>TCA375793554EHMT1c.2968C>T (p.Gln990Ter)
c.2854C>T (p.Gln952Ter)
c.2875C>T (p.Gln959Ter)
c.3008C>T (n.3008C>T)
c.862C>T (p.Gln288Ter)
c.1825C>T (p.Gln609Ter)
c.655C>T
n.494C>T
c.2959C>T (p.Gln987Ter)
c.2950C>T (p.Gln984Ter)
c.2977C>T (p.Gln993Ter)
c.2974C>T (p.Gln992Ter)
c.2956C>T (p.Gln986Ter)
c.2899C>T (p.Gln967Ter)
c.2833C>T (p.Gln945Ter)
c.1399C>T (p.Gln467Ter)
c.751C>T (p.Gln251Ter)
c.538C>T (p.Gln180Ter)
c.2812C>T (p.Gln938Ter)
c.2947C>T (p.Gln983Ter)
c.2953C>T (p.Gln985Ter)
c.2869C>T (p.Gln957Ter)
c.2797C>T (p.Gln933Ter)
c.2731C>T (p.Gln911Ter)
c.2092C>T (p.Gln698Ter)
c.2710C>T (p.Gln904Ter)
 ClinVar gnomAD v4
9g.137813107A=CA1884685707EHMT1c.2969A= (p.Gln990=)
c.2855A= (p.Gln952=)
c.2876A= (p.Gln959=)
c.3009A= (n.3009A=)
c.863A= (p.Gln288=)
c.1826A= (p.Gln609=)
c.656A=
n.495A=
c.2960A= (p.Gln987=)
c.2951A= (p.Gln984=)
c.2978A= (p.Gln993=)
c.2975A= (p.Gln992=)
c.2957A= (p.Gln986=)
c.2900A= (p.Gln967=)
c.2834A= (p.Gln945=)
c.1400A= (p.Gln467=)
c.752A= (p.Gln251=)
c.539A= (p.Gln180=)
c.2813A= (p.Gln938=)
c.2948A= (p.Gln983=)
c.2954A= (p.Gln985=)
c.2870A= (p.Gln957=)
c.2798A= (p.Gln933=)
c.2732A= (p.Gln911=)
c.2093A= (p.Gln698=)
c.2711A= (p.Gln904=)
9g.137813107A>CCA375793558EHMT1c.2969A>C (p.Gln990Pro)
c.2855A>C (p.Gln952Pro)
c.2876A>C (p.Gln959Pro)
c.3009A>C (n.3009A>C)
c.863A>C (p.Gln288Pro)
c.1826A>C (p.Gln609Pro)
c.656A>C
n.495A>C
c.2960A>C (p.Gln987Pro)
c.2951A>C (p.Gln984Pro)
c.2978A>C (p.Gln993Pro)
c.2975A>C (p.Gln992Pro)
c.2957A>C (p.Gln986Pro)
c.2900A>C (p.Gln967Pro)
c.2834A>C (p.Gln945Pro)
c.1400A>C (p.Gln467Pro)
c.752A>C (p.Gln251Pro)
c.539A>C (p.Gln180Pro)
c.2813A>C (p.Gln938Pro)
c.2948A>C (p.Gln983Pro)
c.2954A>C (p.Gln985Pro)
c.2870A>C (p.Gln957Pro)
c.2798A>C (p.Gln933Pro)
c.2732A>C (p.Gln911Pro)
c.2093A>C (p.Gln698Pro)
c.2711A>C (p.Gln904Pro)
9g.137813107A>GCA375793560EHMT1c.2969A>G (p.Gln990Arg)
c.2855A>G (p.Gln952Arg)
c.2876A>G (p.Gln959Arg)
c.3009A>G (n.3009A>G)
c.863A>G (p.Gln288Arg)
c.1826A>G (p.Gln609Arg)
c.656A>G
n.495A>G
c.2960A>G (p.Gln987Arg)
c.2951A>G (p.Gln984Arg)
c.2978A>G (p.Gln993Arg)
c.2975A>G (p.Gln992Arg)
c.2957A>G (p.Gln986Arg)
c.2900A>G (p.Gln967Arg)
c.2834A>G (p.Gln945Arg)
c.1400A>G (p.Gln467Arg)
c.752A>G (p.Gln251Arg)
c.539A>G (p.Gln180Arg)
c.2813A>G (p.Gln938Arg)
c.2948A>G (p.Gln983Arg)
c.2954A>G (p.Gln985Arg)
c.2870A>G (p.Gln957Arg)
c.2798A>G (p.Gln933Arg)
c.2732A>G (p.Gln911Arg)
c.2093A>G (p.Gln698Arg)
c.2711A>G (p.Gln904Arg)
 dbSNP
9g.137813107A>TCA375793562EHMT1c.2969A>T (p.Gln990Leu)
c.2855A>T (p.Gln952Leu)
c.2876A>T (p.Gln959Leu)
c.3009A>T (n.3009A>T)
c.863A>T (p.Gln288Leu)
c.1826A>T (p.Gln609Leu)
c.656A>T
n.495A>T
c.2960A>T (p.Gln987Leu)
c.2951A>T (p.Gln984Leu)
c.2978A>T (p.Gln993Leu)
c.2975A>T (p.Gln992Leu)
c.2957A>T (p.Gln986Leu)
c.2900A>T (p.Gln967Leu)
c.2834A>T (p.Gln945Leu)
c.1400A>T (p.Gln467Leu)
c.752A>T (p.Gln251Leu)
c.539A>T (p.Gln180Leu)
c.2813A>T (p.Gln938Leu)
c.2948A>T (p.Gln983Leu)
c.2954A>T (p.Gln985Leu)
c.2870A>T (p.Gln957Leu)
c.2798A>T (p.Gln933Leu)
c.2732A>T (p.Gln911Leu)
c.2093A>T (p.Gln698Leu)
c.2711A>T (p.Gln904Leu)
9g.137813108G>ACA468161076EHMT1c.2970G>A (p.Gln990=)
c.2856G>A (p.Gln952=)
c.2877G>A (p.Gln959=)
c.3010G>A (n.3010G>A)
c.864G>A (p.Gln288=)
c.1827G>A (p.Gln609=)
c.657G>A
n.496G>A
c.2961G>A (p.Gln987=)
c.2952G>A (p.Gln984=)
c.2979G>A (p.Gln993=)
c.2976G>A (p.Gln992=)
c.2958G>A (p.Gln986=)
c.2901G>A (p.Gln967=)
c.2835G>A (p.Gln945=)
c.1401G>A (p.Gln467=)
c.753G>A (p.Gln251=)
c.540G>A (p.Gln180=)
c.2814G>A (p.Gln938=)
c.2949G>A (p.Gln983=)
c.2955G>A (p.Gln985=)
c.2871G>A (p.Gln957=)
c.2799G>A (p.Gln933=)
c.2733G>A (p.Gln911=)
c.2094G>A (p.Gln698=)
c.2712G>A (p.Gln904=)
9g.137813108G>CCA375793564EHMT1c.2970G>C (p.Gln990His)
c.2856G>C (p.Gln952His)
c.2877G>C (p.Gln959His)
c.3010G>C (n.3010G>C)
c.864G>C (p.Gln288His)
c.1827G>C (p.Gln609His)
c.657G>C
n.496G>C
c.2961G>C (p.Gln987His)
c.2952G>C (p.Gln984His)
c.2979G>C (p.Gln993His)
c.2976G>C (p.Gln992His)
c.2958G>C (p.Gln986His)
c.2901G>C (p.Gln967His)
c.2835G>C (p.Gln945His)
c.1401G>C (p.Gln467His)
c.753G>C (p.Gln251His)
c.540G>C (p.Gln180His)
c.2814G>C (p.Gln938His)
c.2949G>C (p.Gln983His)
c.2955G>C (p.Gln985His)
c.2871G>C (p.Gln957His)
c.2799G>C (p.Gln933His)
c.2733G>C (p.Gln911His)
c.2094G>C (p.Gln698His)
c.2712G>C (p.Gln904His)
9g.137813108G=CA1884685708EHMT1c.2970G= (p.Gln990=)
c.2856G= (p.Gln952=)
c.2877G= (p.Gln959=)
c.3010G= (n.3010G=)
c.864G= (p.Gln288=)
c.1827G= (p.Gln609=)
c.657G=
n.496G=
c.2961G= (p.Gln987=)
c.2952G= (p.Gln984=)
c.2979G= (p.Gln993=)
c.2976G= (p.Gln992=)
c.2958G= (p.Gln986=)
c.2901G= (p.Gln967=)
c.2835G= (p.Gln945=)
c.1401G= (p.Gln467=)
c.753G= (p.Gln251=)
c.540G= (p.Gln180=)
c.2814G= (p.Gln938=)
c.2949G= (p.Gln983=)
c.2955G= (p.Gln985=)
c.2871G= (p.Gln957=)
c.2799G= (p.Gln933=)
c.2733G= (p.Gln911=)
c.2094G= (p.Gln698=)
c.2712G= (p.Gln904=)
9g.137813108G>TCA5375117EHMT1c.2970G>T (p.Gln990His)
c.2856G>T (p.Gln952His)
c.2877G>T (p.Gln959His)
c.3010G>T (n.3010G>T)
c.864G>T (p.Gln288His)
c.1827G>T (p.Gln609His)
c.657G>T
n.496G>T
c.2961G>T (p.Gln987His)
c.2952G>T (p.Gln984His)
c.2979G>T (p.Gln993His)
c.2976G>T (p.Gln992His)
c.2958G>T (p.Gln986His)
c.2901G>T (p.Gln967His)
c.2835G>T (p.Gln945His)
c.1401G>T (p.Gln467His)
c.753G>T (p.Gln251His)
c.540G>T (p.Gln180His)
c.2814G>T (p.Gln938His)
c.2949G>T (p.Gln983His)
c.2955G>T (p.Gln985His)
c.2871G>T (p.Gln957His)
c.2799G>T (p.Gln933His)
c.2733G>T (p.Gln911His)
c.2094G>T (p.Gln698His)
c.2712G>T (p.Gln904His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.137813109A=CA1884685709EHMT1c.2971A= (p.Met991=)
c.2857A= (p.Met953=)
c.2878A= (p.Met960=)
c.3011A= (n.3011A=)
c.865A= (p.Met289=)
c.1828A= (p.Met610=)
c.658A=
n.497A=
c.2962A= (p.Met988=)
c.2953A= (p.Met985=)
c.2980A= (p.Met994=)
c.2977A= (p.Met993=)
c.2959A= (p.Met987=)
c.2902A= (p.Met968=)
c.2836A= (p.Met946=)
c.1402A= (p.Met468=)
c.754A= (p.Met252=)
c.541A= (p.Met181=)
c.2815A= (p.Met939=)
c.2950A= (p.Met984=)
c.2956A= (p.Met986=)
c.2872A= (p.Met958=)
c.2800A= (p.Met934=)
c.2734A= (p.Met912=)
c.2095A= (p.Met699=)
c.2713A= (p.Met905=)
9g.137813109A>CCA375793567EHMT1c.2971A>C (p.Met991Leu)
c.2857A>C (p.Met953Leu)
c.2878A>C (p.Met960Leu)
c.3011A>C (n.3011A>C)
c.865A>C (p.Met289Leu)
c.1828A>C (p.Met610Leu)
c.658A>C
n.497A>C
c.2962A>C (p.Met988Leu)
c.2953A>C (p.Met985Leu)
c.2980A>C (p.Met994Leu)
c.2977A>C (p.Met993Leu)
c.2959A>C (p.Met987Leu)
c.2902A>C (p.Met968Leu)
c.2836A>C (p.Met946Leu)
c.1402A>C (p.Met468Leu)
c.754A>C (p.Met252Leu)
c.541A>C (p.Met181Leu)
c.2815A>C (p.Met939Leu)
c.2950A>C (p.Met984Leu)
c.2956A>C (p.Met986Leu)
c.2872A>C (p.Met958Leu)
c.2800A>C (p.Met934Leu)
c.2734A>C (p.Met912Leu)
c.2095A>C (p.Met699Leu)
c.2713A>C (p.Met905Leu)
9g.137813109A>GCA375793569EHMT1c.2971A>G (p.Met991Val)
c.2857A>G (p.Met953Val)
c.2878A>G (p.Met960Val)
c.3011A>G (n.3011A>G)
c.865A>G (p.Met289Val)
c.1828A>G (p.Met610Val)
c.658A>G
n.497A>G
c.2962A>G (p.Met988Val)
c.2953A>G (p.Met985Val)
c.2980A>G (p.Met994Val)
c.2977A>G (p.Met993Val)
c.2959A>G (p.Met987Val)
c.2902A>G (p.Met968Val)
c.2836A>G (p.Met946Val)
c.1402A>G (p.Met468Val)
c.754A>G (p.Met252Val)
c.541A>G (p.Met181Val)
c.2815A>G (p.Met939Val)
c.2950A>G (p.Met984Val)
c.2956A>G (p.Met986Val)
c.2872A>G (p.Met958Val)
c.2800A>G (p.Met934Val)
c.2734A>G (p.Met912Val)
c.2095A>G (p.Met699Val)
c.2713A>G (p.Met905Val)
9g.137813109A>TCA201843276EHMT1c.2971A>T (p.Met991Leu)
c.2857A>T (p.Met953Leu)
c.2878A>T (p.Met960Leu)
c.3011A>T (n.3011A>T)
c.865A>T (p.Met289Leu)
c.1828A>T (p.Met610Leu)
c.658A>T
n.497A>T
c.2962A>T (p.Met988Leu)
c.2953A>T (p.Met985Leu)
c.2980A>T (p.Met994Leu)
c.2977A>T (p.Met993Leu)
c.2959A>T (p.Met987Leu)
c.2902A>T (p.Met968Leu)
c.2836A>T (p.Met946Leu)
c.1402A>T (p.Met468Leu)
c.754A>T (p.Met252Leu)
c.541A>T (p.Met181Leu)
c.2815A>T (p.Met939Leu)
c.2950A>T (p.Met984Leu)
c.2956A>T (p.Met986Leu)
c.2872A>T (p.Met958Leu)
c.2800A>T (p.Met934Leu)
c.2734A>T (p.Met912Leu)
c.2095A>T (p.Met699Leu)
c.2713A>T (p.Met905Leu)
 dbSNP
9g.137813110T>ACA375793574EHMT1c.2972T>A (p.Met991Lys)
c.2858T>A (p.Met953Lys)
c.2879T>A (p.Met960Lys)
c.3012T>A (n.3012T>A)
c.866T>A (p.Met289Lys)
c.1829T>A (p.Met610Lys)
c.659T>A
n.498T>A
c.2963T>A (p.Met988Lys)
c.2954T>A (p.Met985Lys)
c.2981T>A (p.Met994Lys)
c.2978T>A (p.Met993Lys)
c.2960T>A (p.Met987Lys)
c.2903T>A (p.Met968Lys)
c.2837T>A (p.Met946Lys)
c.1403T>A (p.Met468Lys)
c.755T>A (p.Met252Lys)
c.542T>A (p.Met181Lys)
c.2816T>A (p.Met939Lys)
c.2951T>A (p.Met984Lys)
c.2957T>A (p.Met986Lys)
c.2873T>A (p.Met958Lys)
c.2801T>A (p.Met934Lys)
c.2735T>A (p.Met912Lys)
c.2096T>A (p.Met699Lys)
c.2714T>A (p.Met905Lys)
9g.137813110T>CCA375793576EHMT1c.2972T>C (p.Met991Thr)
c.2858T>C (p.Met953Thr)
c.2879T>C (p.Met960Thr)
c.3012T>C (n.3012T>C)
c.866T>C (p.Met289Thr)
c.1829T>C (p.Met610Thr)
c.659T>C
n.498T>C
c.2963T>C (p.Met988Thr)
c.2954T>C (p.Met985Thr)
c.2981T>C (p.Met994Thr)
c.2978T>C (p.Met993Thr)
c.2960T>C (p.Met987Thr)
c.2903T>C (p.Met968Thr)
c.2837T>C (p.Met946Thr)
c.1403T>C (p.Met468Thr)
c.755T>C (p.Met252Thr)
c.542T>C (p.Met181Thr)
c.2816T>C (p.Met939Thr)
c.2951T>C (p.Met984Thr)
c.2957T>C (p.Met986Thr)
c.2873T>C (p.Met958Thr)
c.2801T>C (p.Met934Thr)
c.2735T>C (p.Met912Thr)
c.2096T>C (p.Met699Thr)
c.2714T>C (p.Met905Thr)
9g.137813110T>GCA375793577EHMT1c.2972T>G (p.Met991Arg)
c.2858T>G (p.Met953Arg)
c.2879T>G (p.Met960Arg)
c.3012T>G (n.3012T>G)
c.866T>G (p.Met289Arg)
c.1829T>G (p.Met610Arg)
c.659T>G
n.498T>G
c.2963T>G (p.Met988Arg)
c.2954T>G (p.Met985Arg)
c.2981T>G (p.Met994Arg)
c.2978T>G (p.Met993Arg)
c.2960T>G (p.Met987Arg)
c.2903T>G (p.Met968Arg)
c.2837T>G (p.Met946Arg)
c.1403T>G (p.Met468Arg)
c.755T>G (p.Met252Arg)
c.542T>G (p.Met181Arg)
c.2816T>G (p.Met939Arg)
c.2951T>G (p.Met984Arg)
c.2957T>G (p.Met986Arg)
c.2873T>G (p.Met958Arg)
c.2801T>G (p.Met934Arg)
c.2735T>G (p.Met912Arg)
c.2096T>G (p.Met699Arg)
c.2714T>G (p.Met905Arg)
9g.137813111G>ACA5375118EHMT1c.2973G>A (p.Met991Ile)
c.2859G>A (p.Met953Ile)
c.2880G>A (p.Met960Ile)
c.3013G>A (n.3013G>A)
c.867G>A (p.Met289Ile)
c.1830G>A (p.Met610Ile)
c.660G>A
n.499G>A
c.2964G>A (p.Met988Ile)
c.2955G>A (p.Met985Ile)
c.2982G>A (p.Met994Ile)
c.2979G>A (p.Met993Ile)
c.2961G>A (p.Met987Ile)
c.2904G>A (p.Met968Ile)
c.2838G>A (p.Met946Ile)
c.1404G>A (p.Met468Ile)
c.756G>A (p.Met252Ile)
c.543G>A (p.Met181Ile)
c.2817G>A (p.Met939Ile)
c.2952G>A (p.Met984Ile)
c.2958G>A (p.Met986Ile)
c.2874G>A (p.Met958Ile)
c.2802G>A (p.Met934Ile)
c.2736G>A (p.Met912Ile)
c.2097G>A (p.Met699Ile)
c.2715G>A (p.Met905Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813111G>CCA375793581EHMT1c.2973G>C (p.Met991Ile)
c.2859G>C (p.Met953Ile)
c.2880G>C (p.Met960Ile)
c.3013G>C (n.3013G>C)
c.867G>C (p.Met289Ile)
c.1830G>C (p.Met610Ile)
c.660G>C
n.499G>C
c.2964G>C (p.Met988Ile)
c.2955G>C (p.Met985Ile)
c.2982G>C (p.Met994Ile)
c.2979G>C (p.Met993Ile)
c.2961G>C (p.Met987Ile)
c.2904G>C (p.Met968Ile)
c.2838G>C (p.Met946Ile)
c.1404G>C (p.Met468Ile)
c.756G>C (p.Met252Ile)
c.543G>C (p.Met181Ile)
c.2817G>C (p.Met939Ile)
c.2952G>C (p.Met984Ile)
c.2958G>C (p.Met986Ile)
c.2874G>C (p.Met958Ile)
c.2802G>C (p.Met934Ile)
c.2736G>C (p.Met912Ile)
c.2097G>C (p.Met699Ile)
c.2715G>C (p.Met905Ile)
9g.137813111G=CA1884685710EHMT1c.2973G= (p.Met991=)
c.2859G= (p.Met953=)
c.2880G= (p.Met960=)
c.3013G= (n.3013G=)
c.867G= (p.Met289=)
c.1830G= (p.Met610=)
c.660G=
n.499G=
c.2964G= (p.Met988=)
c.2955G= (p.Met985=)
c.2982G= (p.Met994=)
c.2979G= (p.Met993=)
c.2961G= (p.Met987=)
c.2904G= (p.Met968=)
c.2838G= (p.Met946=)
c.1404G= (p.Met468=)
c.756G= (p.Met252=)
c.543G= (p.Met181=)
c.2817G= (p.Met939=)
c.2952G= (p.Met984=)
c.2958G= (p.Met986=)
c.2874G= (p.Met958=)
c.2802G= (p.Met934=)
c.2736G= (p.Met912=)
c.2097G= (p.Met699=)
c.2715G= (p.Met905=)
9g.137813111G>TCA375793579EHMT1c.2973G>T (p.Met991Ile)
c.2859G>T (p.Met953Ile)
c.2880G>T (p.Met960Ile)
c.3013G>T (n.3013G>T)
c.867G>T (p.Met289Ile)
c.1830G>T (p.Met610Ile)
c.660G>T
n.499G>T
c.2964G>T (p.Met988Ile)
c.2955G>T (p.Met985Ile)
c.2982G>T (p.Met994Ile)
c.2979G>T (p.Met993Ile)
c.2961G>T (p.Met987Ile)
c.2904G>T (p.Met968Ile)
c.2838G>T (p.Met946Ile)
c.1404G>T (p.Met468Ile)
c.756G>T (p.Met252Ile)
c.543G>T (p.Met181Ile)
c.2817G>T (p.Met939Ile)
c.2952G>T (p.Met984Ile)
c.2958G>T (p.Met986Ile)
c.2874G>T (p.Met958Ile)
c.2802G>T (p.Met934Ile)
c.2736G>T (p.Met912Ile)
c.2097G>T (p.Met699Ile)
c.2715G>T (p.Met905Ile)
9g.137813112A=CA1884685711EHMT1c.2974A= (p.Ser992=)
c.2860A= (p.Ser954=)
c.2881A= (p.Ser961=)
c.3014A= (n.3014A=)
c.868A= (p.Ser290=)
c.1831A= (p.Ser611=)
c.661A=
n.500A=
c.2965A= (p.Ser989=)
c.2956A= (p.Ser986=)
c.2983A= (p.Ser995=)
c.2980A= (p.Ser994=)
c.2962A= (p.Ser988=)
c.2905A= (p.Ser969=)
c.2839A= (p.Ser947=)
c.1405A= (p.Ser469=)
c.757A= (p.Ser253=)
c.544A= (p.Ser182=)
c.2818A= (p.Ser940=)
c.2953A= (p.Ser985=)
c.2959A= (p.Ser987=)
c.2875A= (p.Ser959=)
c.2803A= (p.Ser935=)
c.2737A= (p.Ser913=)
c.2098A= (p.Ser700=)
c.2716A= (p.Ser906=)
9g.137813112A>CCA375793584EHMT1c.2974A>C (p.Ser992Arg)
c.2860A>C (p.Ser954Arg)
c.2881A>C (p.Ser961Arg)
c.3014A>C (n.3014A>C)
c.868A>C (p.Ser290Arg)
c.1831A>C (p.Ser611Arg)
c.661A>C
n.500A>C
c.2965A>C (p.Ser989Arg)
c.2956A>C (p.Ser986Arg)
c.2983A>C (p.Ser995Arg)
c.2980A>C (p.Ser994Arg)
c.2962A>C (p.Ser988Arg)
c.2905A>C (p.Ser969Arg)
c.2839A>C (p.Ser947Arg)
c.1405A>C (p.Ser469Arg)
c.757A>C (p.Ser253Arg)
c.544A>C (p.Ser182Arg)
c.2818A>C (p.Ser940Arg)
c.2953A>C (p.Ser985Arg)
c.2959A>C (p.Ser987Arg)
c.2875A>C (p.Ser959Arg)
c.2803A>C (p.Ser935Arg)
c.2737A>C (p.Ser913Arg)
c.2098A>C (p.Ser700Arg)
c.2716A>C (p.Ser906Arg)
9g.137813112A>GCA375793585EHMT1c.2974A>G (p.Ser992Gly)
c.2860A>G (p.Ser954Gly)
c.2881A>G (p.Ser961Gly)
c.3014A>G (n.3014A>G)
c.868A>G (p.Ser290Gly)
c.1831A>G (p.Ser611Gly)
c.661A>G
n.500A>G
c.2965A>G (p.Ser989Gly)
c.2956A>G (p.Ser986Gly)
c.2983A>G (p.Ser995Gly)
c.2980A>G (p.Ser994Gly)
c.2962A>G (p.Ser988Gly)
c.2905A>G (p.Ser969Gly)
c.2839A>G (p.Ser947Gly)
c.1405A>G (p.Ser469Gly)
c.757A>G (p.Ser253Gly)
c.544A>G (p.Ser182Gly)
c.2818A>G (p.Ser940Gly)
c.2953A>G (p.Ser985Gly)
c.2959A>G (p.Ser987Gly)
c.2875A>G (p.Ser959Gly)
c.2803A>G (p.Ser935Gly)
c.2737A>G (p.Ser913Gly)
c.2098A>G (p.Ser700Gly)
c.2716A>G (p.Ser906Gly)
 ClinVar dbSNP gnomAD v4
9g.137813112A>TCA375793587EHMT1c.2974A>T (p.Ser992Cys)
c.2860A>T (p.Ser954Cys)
c.2881A>T (p.Ser961Cys)
c.3014A>T (n.3014A>T)
c.868A>T (p.Ser290Cys)
c.1831A>T (p.Ser611Cys)
c.661A>T
n.500A>T
c.2965A>T (p.Ser989Cys)
c.2956A>T (p.Ser986Cys)
c.2983A>T (p.Ser995Cys)
c.2980A>T (p.Ser994Cys)
c.2962A>T (p.Ser988Cys)
c.2905A>T (p.Ser969Cys)
c.2839A>T (p.Ser947Cys)
c.1405A>T (p.Ser469Cys)
c.757A>T (p.Ser253Cys)
c.544A>T (p.Ser182Cys)
c.2818A>T (p.Ser940Cys)
c.2953A>T (p.Ser985Cys)
c.2959A>T (p.Ser987Cys)
c.2875A>T (p.Ser959Cys)
c.2803A>T (p.Ser935Cys)
c.2737A>T (p.Ser913Cys)
c.2098A>T (p.Ser700Cys)
c.2716A>T (p.Ser906Cys)
9g.137813113G>ACA375793589EHMT1c.2975G>A (p.Ser992Asn)
c.2861G>A (p.Ser954Asn)
c.2882G>A (p.Ser961Asn)
c.3015G>A (n.3015G>A)
c.869G>A (p.Ser290Asn)
c.1832G>A (p.Ser611Asn)
c.662G>A
n.501G>A
c.2966G>A (p.Ser989Asn)
c.2957G>A (p.Ser986Asn)
c.2984G>A (p.Ser995Asn)
c.2981G>A (p.Ser994Asn)
c.2963G>A (p.Ser988Asn)
c.2906G>A (p.Ser969Asn)
c.2840G>A (p.Ser947Asn)
c.1406G>A (p.Ser469Asn)
c.758G>A (p.Ser253Asn)
c.545G>A (p.Ser182Asn)
c.2819G>A (p.Ser940Asn)
c.2954G>A (p.Ser985Asn)
c.2960G>A (p.Ser987Asn)
c.2876G>A (p.Ser959Asn)
c.2804G>A (p.Ser935Asn)
c.2738G>A (p.Ser913Asn)
c.2099G>A (p.Ser700Asn)
c.2717G>A (p.Ser906Asn)
 ClinVar dbSNP gnomAD v4
9g.137813113G>CCA375793591EHMT1c.2975G>C (p.Ser992Thr)
c.2861G>C (p.Ser954Thr)
c.2882G>C (p.Ser961Thr)
c.3015G>C (n.3015G>C)
c.869G>C (p.Ser290Thr)
c.1832G>C (p.Ser611Thr)
c.662G>C
n.501G>C
c.2966G>C (p.Ser989Thr)
c.2957G>C (p.Ser986Thr)
c.2984G>C (p.Ser995Thr)
c.2981G>C (p.Ser994Thr)
c.2963G>C (p.Ser988Thr)
c.2906G>C (p.Ser969Thr)
c.2840G>C (p.Ser947Thr)
c.1406G>C (p.Ser469Thr)
c.758G>C (p.Ser253Thr)
c.545G>C (p.Ser182Thr)
c.2819G>C (p.Ser940Thr)
c.2954G>C (p.Ser985Thr)
c.2960G>C (p.Ser987Thr)
c.2876G>C (p.Ser959Thr)
c.2804G>C (p.Ser935Thr)
c.2738G>C (p.Ser913Thr)
c.2099G>C (p.Ser700Thr)
c.2717G>C (p.Ser906Thr)
 gnomAD v4
9g.137813113G=CA1884685713EHMT1c.2975G= (p.Ser992=)
c.2861G= (p.Ser954=)
c.2882G= (p.Ser961=)
c.3015G= (n.3015G=)
c.869G= (p.Ser290=)
c.1832G= (p.Ser611=)
c.662G=
n.501G=
c.2966G= (p.Ser989=)
c.2957G= (p.Ser986=)
c.2984G= (p.Ser995=)
c.2981G= (p.Ser994=)
c.2963G= (p.Ser988=)
c.2906G= (p.Ser969=)
c.2840G= (p.Ser947=)
c.1406G= (p.Ser469=)
c.758G= (p.Ser253=)
c.545G= (p.Ser182=)
c.2819G= (p.Ser940=)
c.2954G= (p.Ser985=)
c.2960G= (p.Ser987=)
c.2876G= (p.Ser959=)
c.2804G= (p.Ser935=)
c.2738G= (p.Ser913=)
c.2099G= (p.Ser700=)
c.2717G= (p.Ser906=)
9g.137813113G>TCA375793593EHMT1c.2975G>T (p.Ser992Ile)
c.2861G>T (p.Ser954Ile)
c.2882G>T (p.Ser961Ile)
c.3015G>T (n.3015G>T)
c.869G>T (p.Ser290Ile)
c.1832G>T (p.Ser611Ile)
c.662G>T
n.501G>T
c.2966G>T (p.Ser989Ile)
c.2957G>T (p.Ser986Ile)
c.2984G>T (p.Ser995Ile)
c.2981G>T (p.Ser994Ile)
c.2963G>T (p.Ser988Ile)
c.2906G>T (p.Ser969Ile)
c.2840G>T (p.Ser947Ile)
c.1406G>T (p.Ser469Ile)
c.758G>T (p.Ser253Ile)
c.545G>T (p.Ser182Ile)
c.2819G>T (p.Ser940Ile)
c.2954G>T (p.Ser985Ile)
c.2960G>T (p.Ser987Ile)
c.2876G>T (p.Ser959Ile)
c.2804G>T (p.Ser935Ile)
c.2738G>T (p.Ser913Ile)
c.2099G>T (p.Ser700Ile)
c.2717G>T (p.Ser906Ile)
9g.137813113_137813114delinsGCCA1884685712EHMT1c.2975_2976delinsGC (p.Ser992=)
c.2861_2862delinsGC (p.Ser954=)
c.2882_2883delinsGC (p.Ser961=)
c.3015_3016delinsGC (n.3015_3016delinsGC)
c.869_870delinsGC (p.Ser290=)
c.1832_1833delinsGC (p.Ser611=)
c.662_663delinsGC
n.501_502delinsGC
c.2966_2967delinsGC (p.Ser989=)
c.2957_2958delinsGC (p.Ser986=)
c.2984_2985delinsGC (p.Ser995=)
c.2981_2982delinsGC (p.Ser994=)
c.2963_2964delinsGC (p.Ser988=)
c.2906_2907delinsGC (p.Ser969=)
c.2840_2841delinsGC (p.Ser947=)
c.1406_1407delinsGC (p.Ser469=)
c.758_759delinsGC (p.Ser253=)
c.545_546delinsGC (p.Ser182=)
c.2819_2820delinsGC (p.Ser940=)
c.2954_2955delinsGC (p.Ser985=)
c.2960_2961delinsGC (p.Ser987=)
c.2876_2877delinsGC (p.Ser959=)
c.2804_2805delinsGC (p.Ser935=)
c.2738_2739delinsGC (p.Ser913=)
c.2099_2100delinsGC (p.Ser700=)
c.2717_2718delinsGC (p.Ser906=)
9g.137813114delCA915945837EHMT1c.2976del (p.Ser992ArgfsTer18)
c.2862del (p.Ser954ArgfsTer18)
c.2883del (p.Ser961ArgfsTer18)
c.3016del (n.3016del)
c.870del (p.Ser290ArgfsTer18)
c.1833del (p.Ser611ArgfsTer18)
c.663del
n.502del
c.2967del (p.Ser989ArgfsTer18)
c.2958del (p.Ser986ArgfsTer18)
c.2985del (p.Ser995ArgfsTer18)
c.2982del (p.Ser994ArgfsTer18)
c.2964del (p.Ser988ArgfsTer18)
c.2907del (p.Ser969ArgfsTer18)
c.2841del (p.Ser947ArgfsTer18)
c.1407del (p.Ser469ArgfsTer18)
c.759del (p.Ser253ArgfsTer18)
c.546del (p.Ser182ArgfsTer18)
c.2820del (p.Ser940ArgfsTer18)
c.2955del (p.Ser985ArgfsTer18)
c.2961del (p.Ser987ArgfsTer18)
c.2877del (p.Ser959ArgfsTer18)
c.2805del (p.Ser935ArgfsTer18)
c.2739del (p.Ser913ArgfsTer18)
c.2100del (p.Ser700ArgfsTer18)
c.2718del (p.Ser906ArgfsTer18)
 ClinVar dbSNP
9g.137813114C>ACA375793594EHMT1c.2976C>A (p.Ser992Arg)
c.2862C>A (p.Ser954Arg)
c.2883C>A (p.Ser961Arg)
c.3016C>A (n.3016C>A)
c.870C>A (p.Ser290Arg)
c.1833C>A (p.Ser611Arg)
c.663C>A
n.502C>A
c.2967C>A (p.Ser989Arg)
c.2958C>A (p.Ser986Arg)
c.2985C>A (p.Ser995Arg)
c.2982C>A (p.Ser994Arg)
c.2964C>A (p.Ser988Arg)
c.2907C>A (p.Ser969Arg)
c.2841C>A (p.Ser947Arg)
c.1407C>A (p.Ser469Arg)
c.759C>A (p.Ser253Arg)
c.546C>A (p.Ser182Arg)
c.2820C>A (p.Ser940Arg)
c.2955C>A (p.Ser985Arg)
c.2961C>A (p.Ser987Arg)
c.2877C>A (p.Ser959Arg)
c.2805C>A (p.Ser935Arg)
c.2739C>A (p.Ser913Arg)
c.2100C>A (p.Ser700Arg)
c.2718C>A (p.Ser906Arg)
9g.137813114C>GCA375793595EHMT1c.2976C>G (p.Ser992Arg)
c.2862C>G (p.Ser954Arg)
c.2883C>G (p.Ser961Arg)
c.3016C>G (n.3016C>G)
c.870C>G (p.Ser290Arg)
c.1833C>G (p.Ser611Arg)
c.663C>G
n.502C>G
c.2967C>G (p.Ser989Arg)
c.2958C>G (p.Ser986Arg)
c.2985C>G (p.Ser995Arg)
c.2982C>G (p.Ser994Arg)
c.2964C>G (p.Ser988Arg)
c.2907C>G (p.Ser969Arg)
c.2841C>G (p.Ser947Arg)
c.1407C>G (p.Ser469Arg)
c.759C>G (p.Ser253Arg)
c.546C>G (p.Ser182Arg)
c.2820C>G (p.Ser940Arg)
c.2955C>G (p.Ser985Arg)
c.2961C>G (p.Ser987Arg)
c.2877C>G (p.Ser959Arg)
c.2805C>G (p.Ser935Arg)
c.2739C>G (p.Ser913Arg)
c.2100C>G (p.Ser700Arg)
c.2718C>G (p.Ser906Arg)
9g.137813114C>TCA468161077EHMT1c.2976C>T (p.Ser992=)
c.2862C>T (p.Ser954=)
c.2883C>T (p.Ser961=)
c.3016C>T (n.3016C>T)
c.870C>T (p.Ser290=)
c.1833C>T (p.Ser611=)
c.663C>T
n.502C>T
c.2967C>T (p.Ser989=)
c.2958C>T (p.Ser986=)
c.2985C>T (p.Ser995=)
c.2982C>T (p.Ser994=)
c.2964C>T (p.Ser988=)
c.2907C>T (p.Ser969=)
c.2841C>T (p.Ser947=)
c.1407C>T (p.Ser469=)
c.759C>T (p.Ser253=)
c.546C>T (p.Ser182=)
c.2820C>T (p.Ser940=)
c.2955C>T (p.Ser985=)
c.2961C>T (p.Ser987=)
c.2877C>T (p.Ser959=)
c.2805C>T (p.Ser935=)
c.2739C>T (p.Ser913=)
c.2100C>T (p.Ser700=)
c.2718C>T (p.Ser906=)
9g.137813115A>CCA375793597EHMT1c.2977A>C (p.Lys993Gln)
c.2863A>C (p.Lys955Gln)
c.2884A>C (p.Lys962Gln)
c.3017A>C (n.3017A>C)
c.871A>C (p.Lys291Gln)
c.1834A>C (p.Lys612Gln)
c.664A>C
n.503A>C
c.2968A>C (p.Lys990Gln)
c.2959A>C (p.Lys987Gln)
c.2986A>C (p.Lys996Gln)
c.2983A>C (p.Lys995Gln)
c.2965A>C (p.Lys989Gln)
c.2908A>C (p.Lys970Gln)
c.2842A>C (p.Lys948Gln)
c.1408A>C (p.Lys470Gln)
c.760A>C (p.Lys254Gln)
c.547A>C (p.Lys183Gln)
c.2821A>C (p.Lys941Gln)
c.2956A>C (p.Lys986Gln)
c.2962A>C (p.Lys988Gln)
c.2878A>C (p.Lys960Gln)
c.2806A>C (p.Lys936Gln)
c.2740A>C (p.Lys914Gln)
c.2101A>C (p.Lys701Gln)
c.2719A>C (p.Lys907Gln)
9g.137813115A>GCA375793599EHMT1c.2977A>G (p.Lys993Glu)
c.2863A>G (p.Lys955Glu)
c.2884A>G (p.Lys962Glu)
c.3017A>G (n.3017A>G)
c.871A>G (p.Lys291Glu)
c.1834A>G (p.Lys612Glu)
c.664A>G
n.503A>G
c.2968A>G (p.Lys990Glu)
c.2959A>G (p.Lys987Glu)
c.2986A>G (p.Lys996Glu)
c.2983A>G (p.Lys995Glu)
c.2965A>G (p.Lys989Glu)
c.2908A>G (p.Lys970Glu)
c.2842A>G (p.Lys948Glu)
c.1408A>G (p.Lys470Glu)
c.760A>G (p.Lys254Glu)
c.547A>G (p.Lys183Glu)
c.2821A>G (p.Lys941Glu)
c.2956A>G (p.Lys986Glu)
c.2962A>G (p.Lys988Glu)
c.2878A>G (p.Lys960Glu)
c.2806A>G (p.Lys936Glu)
c.2740A>G (p.Lys914Glu)
c.2101A>G (p.Lys701Glu)
c.2719A>G (p.Lys907Glu)
9g.137813115A>TCA375793601EHMT1c.2977A>T (p.Lys993Ter)
c.2863A>T (p.Lys955Ter)
c.2884A>T (p.Lys962Ter)
c.3017A>T (n.3017A>T)
c.871A>T (p.Lys291Ter)
c.1834A>T (p.Lys612Ter)
c.664A>T
n.503A>T
c.2968A>T (p.Lys990Ter)
c.2959A>T (p.Lys987Ter)
c.2986A>T (p.Lys996Ter)
c.2983A>T (p.Lys995Ter)
c.2965A>T (p.Lys989Ter)
c.2908A>T (p.Lys970Ter)
c.2842A>T (p.Lys948Ter)
c.1408A>T (p.Lys470Ter)
c.760A>T (p.Lys254Ter)
c.547A>T (p.Lys183Ter)
c.2821A>T (p.Lys941Ter)
c.2956A>T (p.Lys986Ter)
c.2962A>T (p.Lys988Ter)
c.2878A>T (p.Lys960Ter)
c.2806A>T (p.Lys936Ter)
c.2740A>T (p.Lys914Ter)
c.2101A>T (p.Lys701Ter)
c.2719A>T (p.Lys907Ter)
9g.137813116A>CCA375793603EHMT1c.2978A>C (p.Lys993Thr)
c.2864A>C (p.Lys955Thr)
c.2885A>C (p.Lys962Thr)
c.3018A>C (n.3018A>C)
c.872A>C (p.Lys291Thr)
c.1835A>C (p.Lys612Thr)
c.665A>C
n.504A>C
c.2969A>C (p.Lys990Thr)
c.2960A>C (p.Lys987Thr)
c.2987A>C (p.Lys996Thr)
c.2984A>C (p.Lys995Thr)
c.2966A>C (p.Lys989Thr)
c.2909A>C (p.Lys970Thr)
c.2843A>C (p.Lys948Thr)
c.1409A>C (p.Lys470Thr)
c.761A>C (p.Lys254Thr)
c.548A>C (p.Lys183Thr)
c.2822A>C (p.Lys941Thr)
c.2957A>C (p.Lys986Thr)
c.2963A>C (p.Lys988Thr)
c.2879A>C (p.Lys960Thr)
c.2807A>C (p.Lys936Thr)
c.2741A>C (p.Lys914Thr)
c.2102A>C (p.Lys701Thr)
c.2720A>C (p.Lys907Thr)
 gnomAD v4
9g.137813116A>GCA375793604EHMT1c.2978A>G (p.Lys993Arg)
c.2864A>G (p.Lys955Arg)
c.2885A>G (p.Lys962Arg)
c.3018A>G (n.3018A>G)
c.872A>G (p.Lys291Arg)
c.1835A>G (p.Lys612Arg)
c.665A>G
n.504A>G
c.2969A>G (p.Lys990Arg)
c.2960A>G (p.Lys987Arg)
c.2987A>G (p.Lys996Arg)
c.2984A>G (p.Lys995Arg)
c.2966A>G (p.Lys989Arg)
c.2909A>G (p.Lys970Arg)
c.2843A>G (p.Lys948Arg)
c.1409A>G (p.Lys470Arg)
c.761A>G (p.Lys254Arg)
c.548A>G (p.Lys183Arg)
c.2822A>G (p.Lys941Arg)
c.2957A>G (p.Lys986Arg)
c.2963A>G (p.Lys988Arg)
c.2879A>G (p.Lys960Arg)
c.2807A>G (p.Lys936Arg)
c.2741A>G (p.Lys914Arg)
c.2102A>G (p.Lys701Arg)
c.2720A>G (p.Lys907Arg)
9g.137813116A>TCA375793606EHMT1c.2978A>T (p.Lys993Met)
c.2864A>T (p.Lys955Met)
c.2885A>T (p.Lys962Met)
c.3018A>T (n.3018A>T)
c.872A>T (p.Lys291Met)
c.1835A>T (p.Lys612Met)
c.665A>T
n.504A>T
c.2969A>T (p.Lys990Met)
c.2960A>T (p.Lys987Met)
c.2987A>T (p.Lys996Met)
c.2984A>T (p.Lys995Met)
c.2966A>T (p.Lys989Met)
c.2909A>T (p.Lys970Met)
c.2843A>T (p.Lys948Met)
c.1409A>T (p.Lys470Met)
c.761A>T (p.Lys254Met)
c.548A>T (p.Lys183Met)
c.2822A>T (p.Lys941Met)
c.2957A>T (p.Lys986Met)
c.2963A>T (p.Lys988Met)
c.2879A>T (p.Lys960Met)
c.2807A>T (p.Lys936Met)
c.2741A>T (p.Lys914Met)
c.2102A>T (p.Lys701Met)
c.2720A>T (p.Lys907Met)
9g.137813117G>ACA468161078EHMT1c.2979G>A (p.Lys993=)
c.2865G>A (p.Lys955=)
c.2886G>A (p.Lys962=)
c.3019G>A (n.3019G>A)
c.873G>A (p.Lys291=)
c.1836G>A (p.Lys612=)
c.666G>A
n.505G>A
c.2970G>A (p.Lys990=)
c.2961G>A (p.Lys987=)
c.2988G>A (p.Lys996=)
c.2985G>A (p.Lys995=)
c.2967G>A (p.Lys989=)
c.2910G>A (p.Lys970=)
c.2844G>A (p.Lys948=)
c.1410G>A (p.Lys470=)
c.762G>A (p.Lys254=)
c.549G>A (p.Lys183=)
c.2823G>A (p.Lys941=)
c.2958G>A (p.Lys986=)
c.2964G>A (p.Lys988=)
c.2880G>A (p.Lys960=)
c.2808G>A (p.Lys936=)
c.2742G>A (p.Lys914=)
c.2103G>A (p.Lys701=)
c.2721G>A (p.Lys907=)
9g.137813117G>CCA375793608EHMT1c.2979G>C (p.Lys993Asn)
c.2865G>C (p.Lys955Asn)
c.2886G>C (p.Lys962Asn)
c.3019G>C (n.3019G>C)
c.873G>C (p.Lys291Asn)
c.1836G>C (p.Lys612Asn)
c.666G>C
n.505G>C
c.2970G>C (p.Lys990Asn)
c.2961G>C (p.Lys987Asn)
c.2988G>C (p.Lys996Asn)
c.2985G>C (p.Lys995Asn)
c.2967G>C (p.Lys989Asn)
c.2910G>C (p.Lys970Asn)
c.2844G>C (p.Lys948Asn)
c.1410G>C (p.Lys470Asn)
c.762G>C (p.Lys254Asn)
c.549G>C (p.Lys183Asn)
c.2823G>C (p.Lys941Asn)
c.2958G>C (p.Lys986Asn)
c.2964G>C (p.Lys988Asn)
c.2880G>C (p.Lys960Asn)
c.2808G>C (p.Lys936Asn)
c.2742G>C (p.Lys914Asn)
c.2103G>C (p.Lys701Asn)
c.2721G>C (p.Lys907Asn)
9g.137813117G>TCA375793610EHMT1c.2979G>T (p.Lys993Asn)
c.2865G>T (p.Lys955Asn)
c.2886G>T (p.Lys962Asn)
c.3019G>T (n.3019G>T)
c.873G>T (p.Lys291Asn)
c.1836G>T (p.Lys612Asn)
c.666G>T
n.505G>T
c.2970G>T (p.Lys990Asn)
c.2961G>T (p.Lys987Asn)
c.2988G>T (p.Lys996Asn)
c.2985G>T (p.Lys995Asn)
c.2967G>T (p.Lys989Asn)
c.2910G>T (p.Lys970Asn)
c.2844G>T (p.Lys948Asn)
c.1410G>T (p.Lys470Asn)
c.762G>T (p.Lys254Asn)
c.549G>T (p.Lys183Asn)
c.2823G>T (p.Lys941Asn)
c.2958G>T (p.Lys986Asn)
c.2964G>T (p.Lys988Asn)
c.2880G>T (p.Lys960Asn)
c.2808G>T (p.Lys936Asn)
c.2742G>T (p.Lys914Asn)
c.2103G>T (p.Lys701Asn)
c.2721G>T (p.Lys907Asn)
9g.137813118G>ACA375793612EHMT1c.2980G>A (p.Ala994Thr)
c.2866G>A (p.Ala956Thr)
c.2887G>A (p.Ala963Thr)
c.3020G>A (n.3020G>A)
c.874G>A (p.Ala292Thr)
c.1837G>A (p.Ala613Thr)
c.667G>A
n.506G>A
c.2971G>A (p.Ala991Thr)
c.2962G>A (p.Ala988Thr)
c.2989G>A (p.Ala997Thr)
c.2986G>A (p.Ala996Thr)
c.2968G>A (p.Ala990Thr)
c.2911G>A (p.Ala971Thr)
c.2845G>A (p.Ala949Thr)
c.1411G>A (p.Ala471Thr)
c.763G>A (p.Ala255Thr)
c.550G>A (p.Ala184Thr)
c.2824G>A (p.Ala942Thr)
c.2959G>A (p.Ala987Thr)
c.2965G>A (p.Ala989Thr)
c.2881G>A (p.Ala961Thr)
c.2809G>A (p.Ala937Thr)
c.2743G>A (p.Ala915Thr)
c.2104G>A (p.Ala702Thr)
c.2722G>A (p.Ala908Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.137813118G>CCA375793614EHMT1c.2980G>C (p.Ala994Pro)
c.2866G>C (p.Ala956Pro)
c.2887G>C (p.Ala963Pro)
c.3020G>C (n.3020G>C)
c.874G>C (p.Ala292Pro)
c.1837G>C (p.Ala613Pro)
c.667G>C
n.506G>C
c.2971G>C (p.Ala991Pro)
c.2962G>C (p.Ala988Pro)
c.2989G>C (p.Ala997Pro)
c.2986G>C (p.Ala996Pro)
c.2968G>C (p.Ala990Pro)
c.2911G>C (p.Ala971Pro)
c.2845G>C (p.Ala949Pro)
c.1411G>C (p.Ala471Pro)
c.763G>C (p.Ala255Pro)
c.550G>C (p.Ala184Pro)
c.2824G>C (p.Ala942Pro)
c.2959G>C (p.Ala987Pro)
c.2965G>C (p.Ala989Pro)
c.2881G>C (p.Ala961Pro)
c.2809G>C (p.Ala937Pro)
c.2743G>C (p.Ala915Pro)
c.2104G>C (p.Ala702Pro)
c.2722G>C (p.Ala908Pro)
 dbSNP gnomAD v4
9g.137813118G=CA1884685714EHMT1c.2980G= (p.Ala994=)
c.2866G= (p.Ala956=)
c.2887G= (p.Ala963=)
c.3020G= (n.3020G=)
c.874G= (p.Ala292=)
c.1837G= (p.Ala613=)
c.667G=
n.506G=
c.2971G= (p.Ala991=)
c.2962G= (p.Ala988=)
c.2989G= (p.Ala997=)
c.2986G= (p.Ala996=)
c.2968G= (p.Ala990=)
c.2911G= (p.Ala971=)
c.2845G= (p.Ala949=)
c.1411G= (p.Ala471=)
c.763G= (p.Ala255=)
c.550G= (p.Ala184=)
c.2824G= (p.Ala942=)
c.2959G= (p.Ala987=)
c.2965G= (p.Ala989=)
c.2881G= (p.Ala961=)
c.2809G= (p.Ala937=)
c.2743G= (p.Ala915=)
c.2104G= (p.Ala702=)
c.2722G= (p.Ala908=)
9g.137813118G>TCA5375119EHMT1c.2980G>T (p.Ala994Ser)
c.2866G>T (p.Ala956Ser)
c.2887G>T (p.Ala963Ser)
c.3020G>T (n.3020G>T)
c.874G>T (p.Ala292Ser)
c.1837G>T (p.Ala613Ser)
c.667G>T
n.506G>T
c.2971G>T (p.Ala991Ser)
c.2962G>T (p.Ala988Ser)
c.2989G>T (p.Ala997Ser)
c.2986G>T (p.Ala996Ser)
c.2968G>T (p.Ala990Ser)
c.2911G>T (p.Ala971Ser)
c.2845G>T (p.Ala949Ser)
c.1411G>T (p.Ala471Ser)
c.763G>T (p.Ala255Ser)
c.550G>T (p.Ala184Ser)
c.2824G>T (p.Ala942Ser)
c.2959G>T (p.Ala987Ser)
c.2965G>T (p.Ala989Ser)
c.2881G>T (p.Ala961Ser)
c.2809G>T (p.Ala937Ser)
c.2743G>T (p.Ala915Ser)
c.2104G>T (p.Ala702Ser)
c.2722G>T (p.Ala908Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813119C>ACA375793618EHMT1c.2981C>A (p.Ala994Asp)
c.2867C>A (p.Ala956Asp)
c.2888C>A (p.Ala963Asp)
c.3021C>A (n.3021C>A)
c.875C>A (p.Ala292Asp)
c.1838C>A (p.Ala613Asp)
c.668C>A
n.507C>A
c.2972C>A (p.Ala991Asp)
c.2963C>A (p.Ala988Asp)
c.2990C>A (p.Ala997Asp)
c.2987C>A (p.Ala996Asp)
c.2969C>A (p.Ala990Asp)
c.2912C>A (p.Ala971Asp)
c.2846C>A (p.Ala949Asp)
c.1412C>A (p.Ala471Asp)
c.764C>A (p.Ala255Asp)
c.551C>A (p.Ala184Asp)
c.2825C>A (p.Ala942Asp)
c.2960C>A (p.Ala987Asp)
c.2966C>A (p.Ala989Asp)
c.2882C>A (p.Ala961Asp)
c.2810C>A (p.Ala937Asp)
c.2744C>A (p.Ala915Asp)
c.2105C>A (p.Ala702Asp)
c.2723C>A (p.Ala908Asp)
9g.137813119C>GCA375793620EHMT1c.2981C>G (p.Ala994Gly)
c.2867C>G (p.Ala956Gly)
c.2888C>G (p.Ala963Gly)
c.3021C>G (n.3021C>G)
c.875C>G (p.Ala292Gly)
c.1838C>G (p.Ala613Gly)
c.668C>G
n.507C>G
c.2972C>G (p.Ala991Gly)
c.2963C>G (p.Ala988Gly)
c.2990C>G (p.Ala997Gly)
c.2987C>G (p.Ala996Gly)
c.2969C>G (p.Ala990Gly)
c.2912C>G (p.Ala971Gly)
c.2846C>G (p.Ala949Gly)
c.1412C>G (p.Ala471Gly)
c.764C>G (p.Ala255Gly)
c.551C>G (p.Ala184Gly)
c.2825C>G (p.Ala942Gly)
c.2960C>G (p.Ala987Gly)
c.2966C>G (p.Ala989Gly)
c.2882C>G (p.Ala961Gly)
c.2810C>G (p.Ala937Gly)
c.2744C>G (p.Ala915Gly)
c.2105C>G (p.Ala702Gly)
c.2723C>G (p.Ala908Gly)
 gnomAD v4
9g.137813119C>TCA375793622EHMT1c.2981C>T (p.Ala994Val)
c.2867C>T (p.Ala956Val)
c.2888C>T (p.Ala963Val)
c.3021C>T (n.3021C>T)
c.875C>T (p.Ala292Val)
c.1838C>T (p.Ala613Val)
c.668C>T
n.507C>T
c.2972C>T (p.Ala991Val)
c.2963C>T (p.Ala988Val)
c.2990C>T (p.Ala997Val)
c.2987C>T (p.Ala996Val)
c.2969C>T (p.Ala990Val)
c.2912C>T (p.Ala971Val)
c.2846C>T (p.Ala949Val)
c.1412C>T (p.Ala471Val)
c.764C>T (p.Ala255Val)
c.551C>T (p.Ala184Val)
c.2825C>T (p.Ala942Val)
c.2960C>T (p.Ala987Val)
c.2966C>T (p.Ala989Val)
c.2882C>T (p.Ala961Val)
c.2810C>T (p.Ala937Val)
c.2744C>T (p.Ala915Val)
c.2105C>T (p.Ala702Val)
c.2723C>T (p.Ala908Val)
9g.137813120T>ACA468161079EHMT1c.2982T>A (p.Ala994=)
c.2868T>A (p.Ala956=)
c.2889T>A (p.Ala963=)
c.3022T>A (n.3022T>A)
c.876T>A (p.Ala292=)
c.1839T>A (p.Ala613=)
c.669T>A
n.508T>A
c.2973T>A (p.Ala991=)
c.2964T>A (p.Ala988=)
c.2991T>A (p.Ala997=)
c.2988T>A (p.Ala996=)
c.2970T>A (p.Ala990=)
c.2913T>A (p.Ala971=)
c.2847T>A (p.Ala949=)
c.1413T>A (p.Ala471=)
c.765T>A (p.Ala255=)
c.552T>A (p.Ala184=)
c.2826T>A (p.Ala942=)
c.2961T>A (p.Ala987=)
c.2967T>A (p.Ala989=)
c.2883T>A (p.Ala961=)
c.2811T>A (p.Ala937=)
c.2745T>A (p.Ala915=)
c.2106T>A (p.Ala702=)
c.2724T>A (p.Ala908=)
9g.137813120T>CCA468161080EHMT1c.2982T>C (p.Ala994=)
c.2868T>C (p.Ala956=)
c.2889T>C (p.Ala963=)
c.3022T>C (n.3022T>C)
c.876T>C (p.Ala292=)
c.1839T>C (p.Ala613=)
c.669T>C
n.508T>C
c.2973T>C (p.Ala991=)
c.2964T>C (p.Ala988=)
c.2991T>C (p.Ala997=)
c.2988T>C (p.Ala996=)
c.2970T>C (p.Ala990=)
c.2913T>C (p.Ala971=)
c.2847T>C (p.Ala949=)
c.1413T>C (p.Ala471=)
c.765T>C (p.Ala255=)
c.552T>C (p.Ala184=)
c.2826T>C (p.Ala942=)
c.2961T>C (p.Ala987=)
c.2967T>C (p.Ala989=)
c.2883T>C (p.Ala961=)
c.2811T>C (p.Ala937=)
c.2745T>C (p.Ala915=)
c.2106T>C (p.Ala702=)
c.2724T>C (p.Ala908=)
9g.137813120T>GCA468161081EHMT1c.2982T>G (p.Ala994=)
c.2868T>G (p.Ala956=)
c.2889T>G (p.Ala963=)
c.3022T>G (n.3022T>G)
c.876T>G (p.Ala292=)
c.1839T>G (p.Ala613=)
c.669T>G
n.508T>G
c.2973T>G (p.Ala991=)
c.2964T>G (p.Ala988=)
c.2991T>G (p.Ala997=)
c.2988T>G (p.Ala996=)
c.2970T>G (p.Ala990=)
c.2913T>G (p.Ala971=)
c.2847T>G (p.Ala949=)
c.1413T>G (p.Ala471=)
c.765T>G (p.Ala255=)
c.552T>G (p.Ala184=)
c.2826T>G (p.Ala942=)
c.2961T>G (p.Ala987=)
c.2967T>G (p.Ala989=)
c.2883T>G (p.Ala961=)
c.2811T>G (p.Ala937=)
c.2745T>G (p.Ala915=)
c.2106T>G (p.Ala702=)
c.2724T>G (p.Ala908=)
9g.137813121C>ACA375793624EHMT1c.2983C>A (p.Leu995Met)
c.2869C>A (p.Leu957Met)
c.2890C>A (p.Leu964Met)
c.3023C>A (n.3023C>A)
c.877C>A (p.Leu293Met)
c.1840C>A (p.Leu614Met)
c.670C>A
n.509C>A
c.2974C>A (p.Leu992Met)
c.2965C>A (p.Leu989Met)
c.2992C>A (p.Leu998Met)
c.2989C>A (p.Leu997Met)
c.2971C>A (p.Leu991Met)
c.2914C>A (p.Leu972Met)
c.2848C>A (p.Leu950Met)
c.1414C>A (p.Leu472Met)
c.766C>A (p.Leu256Met)
c.553C>A (p.Leu185Met)
c.2827C>A (p.Leu943Met)
c.2962C>A (p.Leu988Met)
c.2968C>A (p.Leu990Met)
c.2884C>A (p.Leu962Met)
c.2812C>A (p.Leu938Met)
c.2746C>A (p.Leu916Met)
c.2107C>A (p.Leu703Met)
c.2725C>A (p.Leu909Met)
9g.137813121C>GCA375793625EHMT1c.2983C>G (p.Leu995Val)
c.2869C>G (p.Leu957Val)
c.2890C>G (p.Leu964Val)
c.3023C>G (n.3023C>G)
c.877C>G (p.Leu293Val)
c.1840C>G (p.Leu614Val)
c.670C>G
n.509C>G
c.2974C>G (p.Leu992Val)
c.2965C>G (p.Leu989Val)
c.2992C>G (p.Leu998Val)
c.2989C>G (p.Leu997Val)
c.2971C>G (p.Leu991Val)
c.2914C>G (p.Leu972Val)
c.2848C>G (p.Leu950Val)
c.1414C>G (p.Leu472Val)
c.766C>G (p.Leu256Val)
c.553C>G (p.Leu185Val)
c.2827C>G (p.Leu943Val)
c.2962C>G (p.Leu988Val)
c.2968C>G (p.Leu990Val)
c.2884C>G (p.Leu962Val)
c.2812C>G (p.Leu938Val)
c.2746C>G (p.Leu916Val)
c.2107C>G (p.Leu703Val)
c.2725C>G (p.Leu909Val)
9g.137813121C>TCA468161082EHMT1c.2983C>T (p.Leu995=)
c.2869C>T (p.Leu957=)
c.2890C>T (p.Leu964=)
c.3023C>T (n.3023C>T)
c.877C>T (p.Leu293=)
c.1840C>T (p.Leu614=)
c.670C>T
n.509C>T
c.2974C>T (p.Leu992=)
c.2965C>T (p.Leu989=)
c.2992C>T (p.Leu998=)
c.2989C>T (p.Leu997=)
c.2971C>T (p.Leu991=)
c.2914C>T (p.Leu972=)
c.2848C>T (p.Leu950=)
c.1414C>T (p.Leu472=)
c.766C>T (p.Leu256=)
c.553C>T (p.Leu185=)
c.2827C>T (p.Leu943=)
c.2962C>T (p.Leu988=)
c.2968C>T (p.Leu990=)
c.2884C>T (p.Leu962=)
c.2812C>T (p.Leu938=)
c.2746C>T (p.Leu916=)
c.2107C>T (p.Leu703=)
c.2725C>T (p.Leu909=)
9g.137813122T>ACA375793628EHMT1c.2984T>A (p.Leu995Gln)
c.2870T>A (p.Leu957Gln)
c.2891T>A (p.Leu964Gln)
c.3024T>A (n.3024T>A)
c.878T>A (p.Leu293Gln)
c.1841T>A (p.Leu614Gln)
c.671T>A
n.510T>A
c.2975T>A (p.Leu992Gln)
c.2966T>A (p.Leu989Gln)
c.2993T>A (p.Leu998Gln)
c.2990T>A (p.Leu997Gln)
c.2972T>A (p.Leu991Gln)
c.2915T>A (p.Leu972Gln)
c.2849T>A (p.Leu950Gln)
c.1415T>A (p.Leu472Gln)
c.767T>A (p.Leu256Gln)
c.554T>A (p.Leu185Gln)
c.2828T>A (p.Leu943Gln)
c.2963T>A (p.Leu988Gln)
c.2969T>A (p.Leu990Gln)
c.2885T>A (p.Leu962Gln)
c.2813T>A (p.Leu938Gln)
c.2747T>A (p.Leu916Gln)
c.2108T>A (p.Leu703Gln)
c.2726T>A (p.Leu909Gln)
9g.137813122T>CCA375793630EHMT1c.2984T>C (p.Leu995Pro)
c.2870T>C (p.Leu957Pro)
c.2891T>C (p.Leu964Pro)
c.3024T>C (n.3024T>C)
c.878T>C (p.Leu293Pro)
c.1841T>C (p.Leu614Pro)
c.671T>C
n.510T>C
c.2975T>C (p.Leu992Pro)
c.2966T>C (p.Leu989Pro)
c.2993T>C (p.Leu998Pro)
c.2990T>C (p.Leu997Pro)
c.2972T>C (p.Leu991Pro)
c.2915T>C (p.Leu972Pro)
c.2849T>C (p.Leu950Pro)
c.1415T>C (p.Leu472Pro)
c.767T>C (p.Leu256Pro)
c.554T>C (p.Leu185Pro)
c.2828T>C (p.Leu943Pro)
c.2963T>C (p.Leu988Pro)
c.2969T>C (p.Leu990Pro)
c.2885T>C (p.Leu962Pro)
c.2813T>C (p.Leu938Pro)
c.2747T>C (p.Leu916Pro)
c.2108T>C (p.Leu703Pro)
c.2726T>C (p.Leu909Pro)
9g.137813122T>GCA375793632EHMT1c.2984T>G (p.Leu995Arg)
c.2870T>G (p.Leu957Arg)
c.2891T>G (p.Leu964Arg)
c.3024T>G (n.3024T>G)
c.878T>G (p.Leu293Arg)
c.1841T>G (p.Leu614Arg)
c.671T>G
n.510T>G
c.2975T>G (p.Leu992Arg)
c.2966T>G (p.Leu989Arg)
c.2993T>G (p.Leu998Arg)
c.2990T>G (p.Leu997Arg)
c.2972T>G (p.Leu991Arg)
c.2915T>G (p.Leu972Arg)
c.2849T>G (p.Leu950Arg)
c.1415T>G (p.Leu472Arg)
c.767T>G (p.Leu256Arg)
c.554T>G (p.Leu185Arg)
c.2828T>G (p.Leu943Arg)
c.2963T>G (p.Leu988Arg)
c.2969T>G (p.Leu990Arg)
c.2885T>G (p.Leu962Arg)
c.2813T>G (p.Leu938Arg)
c.2747T>G (p.Leu916Arg)
c.2108T>G (p.Leu703Arg)
c.2726T>G (p.Leu909Arg)
9g.137813123G>ACA468161083EHMT1c.2985G>A (p.Leu995=)
c.2871G>A (p.Leu957=)
c.2892G>A (p.Leu964=)
c.3025G>A (n.3025G>A)
c.879G>A (p.Leu293=)
c.1842G>A (p.Leu614=)
c.672G>A
n.511G>A
c.2976G>A (p.Leu992=)
c.2967G>A (p.Leu989=)
c.2994G>A (p.Leu998=)
c.2991G>A (p.Leu997=)
c.2973G>A (p.Leu991=)
c.2916G>A (p.Leu972=)
c.2850G>A (p.Leu950=)
c.1416G>A (p.Leu472=)
c.768G>A (p.Leu256=)
c.555G>A (p.Leu185=)
c.2829G>A (p.Leu943=)
c.2964G>A (p.Leu988=)
c.2970G>A (p.Leu990=)
c.2886G>A (p.Leu962=)
c.2814G>A (p.Leu938=)
c.2748G>A (p.Leu916=)
c.2109G>A (p.Leu703=)
c.2727G>A (p.Leu909=)
9g.137813123G>CCA468161085EHMT1c.2985G>C (p.Leu995=)
c.2871G>C (p.Leu957=)
c.2892G>C (p.Leu964=)
c.3025G>C (n.3025G>C)
c.879G>C (p.Leu293=)
c.1842G>C (p.Leu614=)
c.672G>C
n.511G>C
c.2976G>C (p.Leu992=)
c.2967G>C (p.Leu989=)
c.2994G>C (p.Leu998=)
c.2991G>C (p.Leu997=)
c.2973G>C (p.Leu991=)
c.2916G>C (p.Leu972=)
c.2850G>C (p.Leu950=)
c.1416G>C (p.Leu472=)
c.768G>C (p.Leu256=)
c.555G>C (p.Leu185=)
c.2829G>C (p.Leu943=)
c.2964G>C (p.Leu988=)
c.2970G>C (p.Leu990=)
c.2886G>C (p.Leu962=)
c.2814G>C (p.Leu938=)
c.2748G>C (p.Leu916=)
c.2109G>C (p.Leu703=)
c.2727G>C (p.Leu909=)
9g.137813123G>TCA468161084EHMT1c.2985G>T (p.Leu995=)
c.2871G>T (p.Leu957=)
c.2892G>T (p.Leu964=)
c.3025G>T (n.3025G>T)
c.879G>T (p.Leu293=)
c.1842G>T (p.Leu614=)
c.672G>T
n.511G>T
c.2976G>T (p.Leu992=)
c.2967G>T (p.Leu989=)
c.2994G>T (p.Leu998=)
c.2991G>T (p.Leu997=)
c.2973G>T (p.Leu991=)
c.2916G>T (p.Leu972=)
c.2850G>T (p.Leu950=)
c.1416G>T (p.Leu472=)
c.768G>T (p.Leu256=)
c.555G>T (p.Leu185=)
c.2829G>T (p.Leu943=)
c.2964G>T (p.Leu988=)
c.2970G>T (p.Leu990=)
c.2886G>T (p.Leu962=)
c.2814G>T (p.Leu938=)
c.2748G>T (p.Leu916=)
c.2109G>T (p.Leu703=)
c.2727G>T (p.Leu909=)
9g.137813124C>ACA375793634EHMT1c.2986C>A (p.Gln996Lys)
c.2872C>A (p.Gln958Lys)
c.2893C>A (p.Gln965Lys)
c.3026C>A (n.3026C>A)
c.880C>A (p.Gln294Lys)
c.1843C>A (p.Gln615Lys)
c.673C>A
n.512C>A
c.2977C>A (p.Gln993Lys)
c.2968C>A (p.Gln990Lys)
c.2995C>A (p.Gln999Lys)
c.2992C>A (p.Gln998Lys)
c.2974C>A (p.Gln992Lys)
c.2917C>A (p.Gln973Lys)
c.2851C>A (p.Gln951Lys)
c.1417C>A (p.Gln473Lys)
c.769C>A (p.Gln257Lys)
c.556C>A (p.Gln186Lys)
c.2830C>A (p.Gln944Lys)
c.2965C>A (p.Gln989Lys)
c.2971C>A (p.Gln991Lys)
c.2887C>A (p.Gln963Lys)
c.2815C>A (p.Gln939Lys)
c.2749C>A (p.Gln917Lys)
c.2110C>A (p.Gln704Lys)
c.2728C>A (p.Gln910Lys)
9g.137813124C>GCA375793638EHMT1c.2986C>G (p.Gln996Glu)
c.2872C>G (p.Gln958Glu)
c.2893C>G (p.Gln965Glu)
c.3026C>G (n.3026C>G)
c.880C>G (p.Gln294Glu)
c.1843C>G (p.Gln615Glu)
c.673C>G
n.512C>G
c.2977C>G (p.Gln993Glu)
c.2968C>G (p.Gln990Glu)
c.2995C>G (p.Gln999Glu)
c.2992C>G (p.Gln998Glu)
c.2974C>G (p.Gln992Glu)
c.2917C>G (p.Gln973Glu)
c.2851C>G (p.Gln951Glu)
c.1417C>G (p.Gln473Glu)
c.769C>G (p.Gln257Glu)
c.556C>G (p.Gln186Glu)
c.2830C>G (p.Gln944Glu)
c.2965C>G (p.Gln989Glu)
c.2971C>G (p.Gln991Glu)
c.2887C>G (p.Gln963Glu)
c.2815C>G (p.Gln939Glu)
c.2749C>G (p.Gln917Glu)
c.2110C>G (p.Gln704Glu)
c.2728C>G (p.Gln910Glu)
9g.137813124C>TCA375793636EHMT1c.2986C>T (p.Gln996Ter)
c.2872C>T (p.Gln958Ter)
c.2893C>T (p.Gln965Ter)
c.3026C>T (n.3026C>T)
c.880C>T (p.Gln294Ter)
c.1843C>T (p.Gln615Ter)
c.673C>T
n.512C>T
c.2977C>T (p.Gln993Ter)
c.2968C>T (p.Gln990Ter)
c.2995C>T (p.Gln999Ter)
c.2992C>T (p.Gln998Ter)
c.2974C>T (p.Gln992Ter)
c.2917C>T (p.Gln973Ter)
c.2851C>T (p.Gln951Ter)
c.1417C>T (p.Gln473Ter)
c.769C>T (p.Gln257Ter)
c.556C>T (p.Gln186Ter)
c.2830C>T (p.Gln944Ter)
c.2965C>T (p.Gln989Ter)
c.2971C>T (p.Gln991Ter)
c.2887C>T (p.Gln963Ter)
c.2815C>T (p.Gln939Ter)
c.2749C>T (p.Gln917Ter)
c.2110C>T (p.Gln704Ter)
c.2728C>T (p.Gln910Ter)
9g.137813125A>CCA375793640EHMT1c.2987A>C (p.Gln996Pro)
c.2873A>C (p.Gln958Pro)
c.2894A>C (p.Gln965Pro)
c.3027A>C (n.3027A>C)
c.881A>C (p.Gln294Pro)
c.1844A>C (p.Gln615Pro)
c.674A>C
n.513A>C
c.2978A>C (p.Gln993Pro)
c.2969A>C (p.Gln990Pro)
c.2996A>C (p.Gln999Pro)
c.2993A>C (p.Gln998Pro)
c.2975A>C (p.Gln992Pro)
c.2918A>C (p.Gln973Pro)
c.2852A>C (p.Gln951Pro)
c.1418A>C (p.Gln473Pro)
c.770A>C (p.Gln257Pro)
c.557A>C (p.Gln186Pro)
c.2831A>C (p.Gln944Pro)
c.2966A>C (p.Gln989Pro)
c.2972A>C (p.Gln991Pro)
c.2888A>C (p.Gln963Pro)
c.2816A>C (p.Gln939Pro)
c.2750A>C (p.Gln917Pro)
c.2111A>C (p.Gln704Pro)
c.2729A>C (p.Gln910Pro)
9g.137813125A>GCA375793645EHMT1c.2987A>G (p.Gln996Arg)
c.2873A>G (p.Gln958Arg)
c.2894A>G (p.Gln965Arg)
c.3027A>G (n.3027A>G)
c.881A>G (p.Gln294Arg)
c.1844A>G (p.Gln615Arg)
c.674A>G
n.513A>G
c.2978A>G (p.Gln993Arg)
c.2969A>G (p.Gln990Arg)
c.2996A>G (p.Gln999Arg)
c.2993A>G (p.Gln998Arg)
c.2975A>G (p.Gln992Arg)
c.2918A>G (p.Gln973Arg)
c.2852A>G (p.Gln951Arg)
c.1418A>G (p.Gln473Arg)
c.770A>G (p.Gln257Arg)
c.557A>G (p.Gln186Arg)
c.2831A>G (p.Gln944Arg)
c.2966A>G (p.Gln989Arg)
c.2972A>G (p.Gln991Arg)
c.2888A>G (p.Gln963Arg)
c.2816A>G (p.Gln939Arg)
c.2750A>G (p.Gln917Arg)
c.2111A>G (p.Gln704Arg)
c.2729A>G (p.Gln910Arg)
 gnomAD v4
9g.137813125A>TCA375793642EHMT1c.2987A>T (p.Gln996Leu)
c.2873A>T (p.Gln958Leu)
c.2894A>T (p.Gln965Leu)
c.3027A>T (n.3027A>T)
c.881A>T (p.Gln294Leu)
c.1844A>T (p.Gln615Leu)
c.674A>T
n.513A>T
c.2978A>T (p.Gln993Leu)
c.2969A>T (p.Gln990Leu)
c.2996A>T (p.Gln999Leu)
c.2993A>T (p.Gln998Leu)
c.2975A>T (p.Gln992Leu)
c.2918A>T (p.Gln973Leu)
c.2852A>T (p.Gln951Leu)
c.1418A>T (p.Gln473Leu)
c.770A>T (p.Gln257Leu)
c.557A>T (p.Gln186Leu)
c.2831A>T (p.Gln944Leu)
c.2966A>T (p.Gln989Leu)
c.2972A>T (p.Gln991Leu)
c.2888A>T (p.Gln963Leu)
c.2816A>T (p.Gln939Leu)
c.2750A>T (p.Gln917Leu)
c.2111A>T (p.Gln704Leu)
c.2729A>T (p.Gln910Leu)
9g.137813126G>ACA468161086EHMT1c.2988G>A (p.Gln996=)
c.2874G>A (p.Gln958=)
c.2895G>A (p.Gln965=)
c.3028G>A (n.3028G>A)
c.882G>A (p.Gln294=)
c.1845G>A (p.Gln615=)
c.675G>A
n.514G>A
c.2979G>A (p.Gln993=)
c.2970G>A (p.Gln990=)
c.2997G>A (p.Gln999=)
c.2994G>A (p.Gln998=)
c.2976G>A (p.Gln992=)
c.2919G>A (p.Gln973=)
c.2853G>A (p.Gln951=)
c.1419G>A (p.Gln473=)
c.771G>A (p.Gln257=)
c.558G>A (p.Gln186=)
c.2832G>A (p.Gln944=)
c.2967G>A (p.Gln989=)
c.2973G>A (p.Gln991=)
c.2889G>A (p.Gln963=)
c.2817G>A (p.Gln939=)
c.2751G>A (p.Gln917=)
c.2112G>A (p.Gln704=)
c.2730G>A (p.Gln910=)
9g.137813126G>CCA375793648EHMT1c.2988G>C (p.Gln996His)
c.2874G>C (p.Gln958His)
c.2895G>C (p.Gln965His)
c.3028G>C (n.3028G>C)
c.882G>C (p.Gln294His)
c.1845G>C (p.Gln615His)
c.675G>C
n.514G>C
c.2979G>C (p.Gln993His)
c.2970G>C (p.Gln990His)
c.2997G>C (p.Gln999His)
c.2994G>C (p.Gln998His)
c.2976G>C (p.Gln992His)
c.2919G>C (p.Gln973His)
c.2853G>C (p.Gln951His)
c.1419G>C (p.Gln473His)
c.771G>C (p.Gln257His)
c.558G>C (p.Gln186His)
c.2832G>C (p.Gln944His)
c.2967G>C (p.Gln989His)
c.2973G>C (p.Gln991His)
c.2889G>C (p.Gln963His)
c.2817G>C (p.Gln939His)
c.2751G>C (p.Gln917His)
c.2112G>C (p.Gln704His)
c.2730G>C (p.Gln910His)
9g.137813126G>TCA375793650EHMT1c.2988G>T (p.Gln996His)
c.2874G>T (p.Gln958His)
c.2895G>T (p.Gln965His)
c.3028G>T (n.3028G>T)
c.882G>T (p.Gln294His)
c.1845G>T (p.Gln615His)
c.675G>T
n.514G>T
c.2979G>T (p.Gln993His)
c.2970G>T (p.Gln990His)
c.2997G>T (p.Gln999His)
c.2994G>T (p.Gln998His)
c.2976G>T (p.Gln992His)
c.2919G>T (p.Gln973His)
c.2853G>T (p.Gln951His)
c.1419G>T (p.Gln473His)
c.771G>T (p.Gln257His)
c.558G>T (p.Gln186His)
c.2832G>T (p.Gln944His)
c.2967G>T (p.Gln989His)
c.2973G>T (p.Gln991His)
c.2889G>T (p.Gln963His)
c.2817G>T (p.Gln939His)
c.2751G>T (p.Gln917His)
c.2112G>T (p.Gln704His)
c.2730G>T (p.Gln910His)
9g.137813127G>ACA375793651EHMT1c.2989G>A (p.Asp997Asn)
c.2875G>A (p.Asp959Asn)
c.2896G>A (p.Asp966Asn)
c.3029G>A (n.3029G>A)
c.883G>A (p.Asp295Asn)
c.1846G>A (p.Asp616Asn)
c.676G>A
n.515G>A
c.2980G>A (p.Asp994Asn)
c.2971G>A (p.Asp991Asn)
c.2998G>A (p.Asp1000Asn)
c.2995G>A (p.Asp999Asn)
c.2977G>A (p.Asp993Asn)
c.2920G>A (p.Asp974Asn)
c.2854G>A (p.Asp952Asn)
c.1420G>A (p.Asp474Asn)
c.772G>A (p.Asp258Asn)
c.559G>A (p.Asp187Asn)
c.2833G>A (p.Asp945Asn)
c.2968G>A (p.Asp990Asn)
c.2974G>A (p.Asp992Asn)
c.2890G>A (p.Asp964Asn)
c.2818G>A (p.Asp940Asn)
c.2752G>A (p.Asp918Asn)
c.2113G>A (p.Asp705Asn)
c.2731G>A (p.Asp911Asn)
 gnomAD v4
9g.137813127G>CCA375793652EHMT1c.2989G>C (p.Asp997His)
c.2875G>C (p.Asp959His)
c.2896G>C (p.Asp966His)
c.3029G>C (n.3029G>C)
c.883G>C (p.Asp295His)
c.1846G>C (p.Asp616His)
c.676G>C
n.515G>C
c.2980G>C (p.Asp994His)
c.2971G>C (p.Asp991His)
c.2998G>C (p.Asp1000His)
c.2995G>C (p.Asp999His)
c.2977G>C (p.Asp993His)
c.2920G>C (p.Asp974His)
c.2854G>C (p.Asp952His)
c.1420G>C (p.Asp474His)
c.772G>C (p.Asp258His)
c.559G>C (p.Asp187His)
c.2833G>C (p.Asp945His)
c.2968G>C (p.Asp990His)
c.2974G>C (p.Asp992His)
c.2890G>C (p.Asp964His)
c.2818G>C (p.Asp940His)
c.2752G>C (p.Asp918His)
c.2113G>C (p.Asp705His)
c.2731G>C (p.Asp911His)
9g.137813127G=CA1884685715EHMT1c.2989G= (p.Asp997=)
c.2875G= (p.Asp959=)
c.2896G= (p.Asp966=)
c.3029G= (n.3029G=)
c.883G= (p.Asp295=)
c.1846G= (p.Asp616=)
c.676G=
n.515G=
c.2980G= (p.Asp994=)
c.2971G= (p.Asp991=)
c.2998G= (p.Asp1000=)
c.2995G= (p.Asp999=)
c.2977G= (p.Asp993=)
c.2920G= (p.Asp974=)
c.2854G= (p.Asp952=)
c.1420G= (p.Asp474=)
c.772G= (p.Asp258=)
c.559G= (p.Asp187=)
c.2833G= (p.Asp945=)
c.2968G= (p.Asp990=)
c.2974G= (p.Asp992=)
c.2890G= (p.Asp964=)
c.2818G= (p.Asp940=)
c.2752G= (p.Asp918=)
c.2113G= (p.Asp705=)
c.2731G= (p.Asp911=)
9g.137813127G>TCA5375120EHMT1c.2989G>T (p.Asp997Tyr)
c.2875G>T (p.Asp959Tyr)
c.2896G>T (p.Asp966Tyr)
c.3029G>T (n.3029G>T)
c.883G>T (p.Asp295Tyr)
c.1846G>T (p.Asp616Tyr)
c.676G>T
n.515G>T
c.2980G>T (p.Asp994Tyr)
c.2971G>T (p.Asp991Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2995G>T (p.Asp999Tyr)
c.2977G>T (p.Asp993Tyr)
c.2920G>T (p.Asp974Tyr)
c.2854G>T (p.Asp952Tyr)
c.1420G>T (p.Asp474Tyr)
c.772G>T (p.Asp258Tyr)
c.559G>T (p.Asp187Tyr)
c.2833G>T (p.Asp945Tyr)
c.2968G>T (p.Asp990Tyr)
c.2974G>T (p.Asp992Tyr)
c.2890G>T (p.Asp964Tyr)
c.2818G>T (p.Asp940Tyr)
c.2752G>T (p.Asp918Tyr)
c.2113G>T (p.Asp705Tyr)
c.2731G>T (p.Asp911Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813128A>CCA375793653EHMT1c.2990A>C (p.Asp997Ala)
c.2876A>C (p.Asp959Ala)
c.2897A>C (p.Asp966Ala)
c.3030A>C (n.3030A>C)
c.884A>C (p.Asp295Ala)
c.1847A>C (p.Asp616Ala)
c.677A>C
n.516A>C
c.2981A>C (p.Asp994Ala)
c.2972A>C (p.Asp991Ala)
c.2999A>C (p.Asp1000Ala)
c.2996A>C (p.Asp999Ala)
c.2978A>C (p.Asp993Ala)
c.2921A>C (p.Asp974Ala)
c.2855A>C (p.Asp952Ala)
c.1421A>C (p.Asp474Ala)
c.773A>C (p.Asp258Ala)
c.560A>C (p.Asp187Ala)
c.2834A>C (p.Asp945Ala)
c.2969A>C (p.Asp990Ala)
c.2975A>C (p.Asp992Ala)
c.2891A>C (p.Asp964Ala)
c.2819A>C (p.Asp940Ala)
c.2753A>C (p.Asp918Ala)
c.2114A>C (p.Asp705Ala)
c.2732A>C (p.Asp911Ala)
9g.137813128A>GCA375793654EHMT1c.2990A>G (p.Asp997Gly)
c.2876A>G (p.Asp959Gly)
c.2897A>G (p.Asp966Gly)
c.3030A>G (n.3030A>G)
c.884A>G (p.Asp295Gly)
c.1847A>G (p.Asp616Gly)
c.677A>G
n.516A>G
c.2981A>G (p.Asp994Gly)
c.2972A>G (p.Asp991Gly)
c.2999A>G (p.Asp1000Gly)
c.2996A>G (p.Asp999Gly)
c.2978A>G (p.Asp993Gly)
c.2921A>G (p.Asp974Gly)
c.2855A>G (p.Asp952Gly)
c.1421A>G (p.Asp474Gly)
c.773A>G (p.Asp258Gly)
c.560A>G (p.Asp187Gly)
c.2834A>G (p.Asp945Gly)
c.2969A>G (p.Asp990Gly)
c.2975A>G (p.Asp992Gly)
c.2891A>G (p.Asp964Gly)
c.2819A>G (p.Asp940Gly)
c.2753A>G (p.Asp918Gly)
c.2114A>G (p.Asp705Gly)
c.2732A>G (p.Asp911Gly)
9g.137813128A>TCA375793655EHMT1c.2990A>T (p.Asp997Val)
c.2876A>T (p.Asp959Val)
c.2897A>T (p.Asp966Val)
c.3030A>T (n.3030A>T)
c.884A>T (p.Asp295Val)
c.1847A>T (p.Asp616Val)
c.677A>T
n.516A>T
c.2981A>T (p.Asp994Val)
c.2972A>T (p.Asp991Val)
c.2999A>T (p.Asp1000Val)
c.2996A>T (p.Asp999Val)
c.2978A>T (p.Asp993Val)
c.2921A>T (p.Asp974Val)
c.2855A>T (p.Asp952Val)
c.1421A>T (p.Asp474Val)
c.773A>T (p.Asp258Val)
c.560A>T (p.Asp187Val)
c.2834A>T (p.Asp945Val)
c.2969A>T (p.Asp990Val)
c.2975A>T (p.Asp992Val)
c.2891A>T (p.Asp964Val)
c.2819A>T (p.Asp940Val)
c.2753A>T (p.Asp918Val)
c.2114A>T (p.Asp705Val)
c.2732A>T (p.Asp911Val)
9g.137813129C>ACA375793656EHMT1c.2991C>A (p.Asp997Glu)
c.2877C>A (p.Asp959Glu)
c.2898C>A (p.Asp966Glu)
c.3031C>A (n.3031C>A)
c.885C>A (p.Asp295Glu)
c.1848C>A (p.Asp616Glu)
c.678C>A
n.517C>A
c.2982C>A (p.Asp994Glu)
c.2973C>A (p.Asp991Glu)
c.3000C>A (p.Asp1000Glu)
c.2997C>A (p.Asp999Glu)
c.2979C>A (p.Asp993Glu)
c.2922C>A (p.Asp974Glu)
c.2856C>A (p.Asp952Glu)
c.1422C>A (p.Asp474Glu)
c.774C>A (p.Asp258Glu)
c.561C>A (p.Asp187Glu)
c.2835C>A (p.Asp945Glu)
c.2970C>A (p.Asp990Glu)
c.2976C>A (p.Asp992Glu)
c.2892C>A (p.Asp964Glu)
c.2820C>A (p.Asp940Glu)
c.2754C>A (p.Asp918Glu)
c.2115C>A (p.Asp705Glu)
c.2733C>A (p.Asp911Glu)
9g.137813129C>GCA375793657EHMT1c.2991C>G (p.Asp997Glu)
c.2877C>G (p.Asp959Glu)
c.2898C>G (p.Asp966Glu)
c.3031C>G (n.3031C>G)
c.885C>G (p.Asp295Glu)
c.1848C>G (p.Asp616Glu)
c.678C>G
n.517C>G
c.2982C>G (p.Asp994Glu)
c.2973C>G (p.Asp991Glu)
c.3000C>G (p.Asp1000Glu)
c.2997C>G (p.Asp999Glu)
c.2979C>G (p.Asp993Glu)
c.2922C>G (p.Asp974Glu)
c.2856C>G (p.Asp952Glu)
c.1422C>G (p.Asp474Glu)
c.774C>G (p.Asp258Glu)
c.561C>G (p.Asp187Glu)
c.2835C>G (p.Asp945Glu)
c.2970C>G (p.Asp990Glu)
c.2976C>G (p.Asp992Glu)
c.2892C>G (p.Asp964Glu)
c.2820C>G (p.Asp940Glu)
c.2754C>G (p.Asp918Glu)
c.2115C>G (p.Asp705Glu)
c.2733C>G (p.Asp911Glu)
9g.137813129C>TCA468161087EHMT1c.2991C>T (p.Asp997=)
c.2877C>T (p.Asp959=)
c.2898C>T (p.Asp966=)
c.3031C>T (n.3031C>T)
c.885C>T (p.Asp295=)
c.1848C>T (p.Asp616=)
c.678C>T
n.517C>T
c.2982C>T (p.Asp994=)
c.2973C>T (p.Asp991=)
c.3000C>T (p.Asp1000=)
c.2997C>T (p.Asp999=)
c.2979C>T (p.Asp993=)
c.2922C>T (p.Asp974=)
c.2856C>T (p.Asp952=)
c.1422C>T (p.Asp474=)
c.774C>T (p.Asp258=)
c.561C>T (p.Asp187=)
c.2835C>T (p.Asp945=)
c.2970C>T (p.Asp990=)
c.2976C>T (p.Asp992=)
c.2892C>T (p.Asp964=)
c.2820C>T (p.Asp940=)
c.2754C>T (p.Asp918=)
c.2115C>T (p.Asp705=)
c.2733C>T (p.Asp911=)
9g.137813130T>ACA375793658EHMT1c.2992T>A (p.Ser998Thr)
c.2878T>A (p.Ser960Thr)
c.2899T>A (p.Ser967Thr)
c.3032T>A (n.3032T>A)
c.886T>A (p.Ser296Thr)
c.1849T>A (p.Ser617Thr)
c.679T>A
n.518T>A
c.2983T>A (p.Ser995Thr)
c.2974T>A (p.Ser992Thr)
c.3001T>A (p.Ser1001Thr)
c.2998T>A (p.Ser1000Thr)
c.2980T>A (p.Ser994Thr)
c.2923T>A (p.Ser975Thr)
c.2857T>A (p.Ser953Thr)
c.1423T>A (p.Ser475Thr)
c.775T>A (p.Ser259Thr)
c.562T>A (p.Ser188Thr)
c.2836T>A (p.Ser946Thr)
c.2971T>A (p.Ser991Thr)
c.2977T>A (p.Ser993Thr)
c.2893T>A (p.Ser965Thr)
c.2821T>A (p.Ser941Thr)
c.2755T>A (p.Ser919Thr)
c.2116T>A (p.Ser706Thr)
c.2734T>A (p.Ser912Thr)
9g.137813130T>CCA375793659EHMT1c.2992T>C (p.Ser998Pro)
c.2878T>C (p.Ser960Pro)
c.2899T>C (p.Ser967Pro)
c.3032T>C (n.3032T>C)
c.886T>C (p.Ser296Pro)
c.1849T>C (p.Ser617Pro)
c.679T>C
n.518T>C
c.2983T>C (p.Ser995Pro)
c.2974T>C (p.Ser992Pro)
c.3001T>C (p.Ser1001Pro)
c.2998T>C (p.Ser1000Pro)
c.2980T>C (p.Ser994Pro)
c.2923T>C (p.Ser975Pro)
c.2857T>C (p.Ser953Pro)
c.1423T>C (p.Ser475Pro)
c.775T>C (p.Ser259Pro)
c.562T>C (p.Ser188Pro)
c.2836T>C (p.Ser946Pro)
c.2971T>C (p.Ser991Pro)
c.2977T>C (p.Ser993Pro)
c.2893T>C (p.Ser965Pro)
c.2821T>C (p.Ser941Pro)
c.2755T>C (p.Ser919Pro)
c.2116T>C (p.Ser706Pro)
c.2734T>C (p.Ser912Pro)
9g.137813130T>GCA375793660EHMT1c.2992T>G (p.Ser998Ala)
c.2878T>G (p.Ser960Ala)
c.2899T>G (p.Ser967Ala)
c.3032T>G (n.3032T>G)
c.886T>G (p.Ser296Ala)
c.1849T>G (p.Ser617Ala)
c.679T>G
n.518T>G
c.2983T>G (p.Ser995Ala)
c.2974T>G (p.Ser992Ala)
c.3001T>G (p.Ser1001Ala)
c.2998T>G (p.Ser1000Ala)
c.2980T>G (p.Ser994Ala)
c.2923T>G (p.Ser975Ala)
c.2857T>G (p.Ser953Ala)
c.1423T>G (p.Ser475Ala)
c.775T>G (p.Ser259Ala)
c.562T>G (p.Ser188Ala)
c.2836T>G (p.Ser946Ala)
c.2971T>G (p.Ser991Ala)
c.2977T>G (p.Ser993Ala)
c.2893T>G (p.Ser965Ala)
c.2821T>G (p.Ser941Ala)
c.2755T>G (p.Ser919Ala)
c.2116T>G (p.Ser706Ala)
c.2734T>G (p.Ser912Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813130T=CA1884685716EHMT1c.2992T= (p.Ser998=)
c.2878T= (p.Ser960=)
c.2899T= (p.Ser967=)
c.3032T= (n.3032T=)
c.886T= (p.Ser296=)
c.1849T= (p.Ser617=)
c.679T=
n.518T=
c.2983T= (p.Ser995=)
c.2974T= (p.Ser992=)
c.3001T= (p.Ser1001=)
c.2998T= (p.Ser1000=)
c.2980T= (p.Ser994=)
c.2923T= (p.Ser975=)
c.2857T= (p.Ser953=)
c.1423T= (p.Ser475=)
c.775T= (p.Ser259=)
c.562T= (p.Ser188=)
c.2836T= (p.Ser946=)
c.2971T= (p.Ser991=)
c.2977T= (p.Ser993=)
c.2893T= (p.Ser965=)
c.2821T= (p.Ser941=)
c.2755T= (p.Ser919=)
c.2116T= (p.Ser706=)
c.2734T= (p.Ser912=)
9g.137813131C>ACA375793661EHMT1c.2993C>A (p.Ser998Ter)
c.2879C>A (p.Ser960Ter)
c.2900C>A (p.Ser967Ter)
c.3033C>A (n.3033C>A)
c.887C>A (p.Ser296Ter)
c.1850C>A (p.Ser617Ter)
c.680C>A
n.519C>A
c.2984C>A (p.Ser995Ter)
c.2975C>A (p.Ser992Ter)
c.3002C>A (p.Ser1001Ter)
c.2999C>A (p.Ser1000Ter)
c.2981C>A (p.Ser994Ter)
c.2924C>A (p.Ser975Ter)
c.2858C>A (p.Ser953Ter)
c.1424C>A (p.Ser475Ter)
c.776C>A (p.Ser259Ter)
c.563C>A (p.Ser188Ter)
c.2837C>A (p.Ser946Ter)
c.2972C>A (p.Ser991Ter)
c.2978C>A (p.Ser993Ter)
c.2894C>A (p.Ser965Ter)
c.2822C>A (p.Ser941Ter)
c.2756C>A (p.Ser919Ter)
c.2117C>A (p.Ser706Ter)
c.2735C>A (p.Ser912Ter)
9g.137813131C=CA1884685717EHMT1c.2993C= (p.Ser998=)
c.2879C= (p.Ser960=)
c.2900C= (p.Ser967=)
c.3033C= (n.3033C=)
c.887C= (p.Ser296=)
c.1850C= (p.Ser617=)
c.680C=
n.519C=
c.2984C= (p.Ser995=)
c.2975C= (p.Ser992=)
c.3002C= (p.Ser1001=)
c.2999C= (p.Ser1000=)
c.2981C= (p.Ser994=)
c.2924C= (p.Ser975=)
c.2858C= (p.Ser953=)
c.1424C= (p.Ser475=)
c.776C= (p.Ser259=)
c.563C= (p.Ser188=)
c.2837C= (p.Ser946=)
c.2972C= (p.Ser991=)
c.2978C= (p.Ser993=)
c.2894C= (p.Ser965=)
c.2822C= (p.Ser941=)
c.2756C= (p.Ser919=)
c.2117C= (p.Ser706=)
c.2735C= (p.Ser912=)
9g.137813131C>GCA201843295EHMT1c.2993C>G (p.Ser998Trp)
c.2879C>G (p.Ser960Trp)
c.2900C>G (p.Ser967Trp)
c.3033C>G (n.3033C>G)
c.887C>G (p.Ser296Trp)
c.1850C>G (p.Ser617Trp)
c.680C>G
n.519C>G
c.2984C>G (p.Ser995Trp)
c.2975C>G (p.Ser992Trp)
c.3002C>G (p.Ser1001Trp)
c.2999C>G (p.Ser1000Trp)
c.2981C>G (p.Ser994Trp)
c.2924C>G (p.Ser975Trp)
c.2858C>G (p.Ser953Trp)
c.1424C>G (p.Ser475Trp)
c.776C>G (p.Ser259Trp)
c.563C>G (p.Ser188Trp)
c.2837C>G (p.Ser946Trp)
c.2972C>G (p.Ser991Trp)
c.2978C>G (p.Ser993Trp)
c.2894C>G (p.Ser965Trp)
c.2822C>G (p.Ser941Trp)
c.2756C>G (p.Ser919Trp)
c.2117C>G (p.Ser706Trp)
c.2735C>G (p.Ser912Trp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.137813131C>TCA5375121EHMT1c.2993C>T (p.Ser998Leu)
c.2879C>T (p.Ser960Leu)
c.2900C>T (p.Ser967Leu)
c.3033C>T (n.3033C>T)
c.887C>T (p.Ser296Leu)
c.1850C>T (p.Ser617Leu)
c.680C>T
n.519C>T
c.2984C>T (p.Ser995Leu)
c.2975C>T (p.Ser992Leu)
c.3002C>T (p.Ser1001Leu)
c.2999C>T (p.Ser1000Leu)
c.2981C>T (p.Ser994Leu)
c.2924C>T (p.Ser975Leu)
c.2858C>T (p.Ser953Leu)
c.1424C>T (p.Ser475Leu)
c.776C>T (p.Ser259Leu)
c.563C>T (p.Ser188Leu)
c.2837C>T (p.Ser946Leu)
c.2972C>T (p.Ser991Leu)
c.2978C>T (p.Ser993Leu)
c.2894C>T (p.Ser965Leu)
c.2822C>T (p.Ser941Leu)
c.2756C>T (p.Ser919Leu)
c.2117C>T (p.Ser706Leu)
c.2735C>T (p.Ser912Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813132G>ACA5375122EHMT1c.2994G>A (p.Ser998=)
c.2880G>A (p.Ser960=)
c.2901G>A (p.Ser967=)
c.3034G>A (n.3034G>A)
c.888G>A (p.Ser296=)
c.1851G>A (p.Ser617=)
c.681G>A
n.520G>A
c.2985G>A (p.Ser995=)
c.2976G>A (p.Ser992=)
c.3003G>A (p.Ser1001=)
c.3000G>A (p.Ser1000=)
c.2982G>A (p.Ser994=)
c.2925G>A (p.Ser975=)
c.2859G>A (p.Ser953=)
c.1425G>A (p.Ser475=)
c.777G>A (p.Ser259=)
c.564G>A (p.Ser188=)
c.2838G>A (p.Ser946=)
c.2973G>A (p.Ser991=)
c.2979G>A (p.Ser993=)
c.2895G>A (p.Ser965=)
c.2823G>A (p.Ser941=)
c.2757G>A (p.Ser919=)
c.2118G>A (p.Ser706=)
c.2736G>A (p.Ser912=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813132G>CCA468161088EHMT1c.2994G>C (p.Ser998=)
c.2880G>C (p.Ser960=)
c.2901G>C (p.Ser967=)
c.3034G>C (n.3034G>C)
c.888G>C (p.Ser296=)
c.1851G>C (p.Ser617=)
c.681G>C
n.520G>C
c.2985G>C (p.Ser995=)
c.2976G>C (p.Ser992=)
c.3003G>C (p.Ser1001=)
c.3000G>C (p.Ser1000=)
c.2982G>C (p.Ser994=)
c.2925G>C (p.Ser975=)
c.2859G>C (p.Ser953=)
c.1425G>C (p.Ser475=)
c.777G>C (p.Ser259=)
c.564G>C (p.Ser188=)
c.2838G>C (p.Ser946=)
c.2973G>C (p.Ser991=)
c.2979G>C (p.Ser993=)
c.2895G>C (p.Ser965=)
c.2823G>C (p.Ser941=)
c.2757G>C (p.Ser919=)
c.2118G>C (p.Ser706=)
c.2736G>C (p.Ser912=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.137813132G=CA1884685718EHMT1c.2994G= (p.Ser998=)
c.2880G= (p.Ser960=)
c.2901G= (p.Ser967=)
c.3034G= (n.3034G=)
c.888G= (p.Ser296=)
c.1851G= (p.Ser617=)
c.681G=
n.520G=
c.2985G= (p.Ser995=)
c.2976G= (p.Ser992=)
c.3003G= (p.Ser1001=)
c.3000G= (p.Ser1000=)
c.2982G= (p.Ser994=)
c.2925G= (p.Ser975=)
c.2859G= (p.Ser953=)
c.1425G= (p.Ser475=)
c.777G= (p.Ser259=)
c.564G= (p.Ser188=)
c.2838G= (p.Ser946=)
c.2973G= (p.Ser991=)
c.2979G= (p.Ser993=)
c.2895G= (p.Ser965=)
c.2823G= (p.Ser941=)
c.2757G= (p.Ser919=)
c.2118G= (p.Ser706=)
c.2736G= (p.Ser912=)
9g.137813132G>TCA468161089EHMT1c.2994G>T (p.Ser998=)
c.2880G>T (p.Ser960=)
c.2901G>T (p.Ser967=)
c.3034G>T (n.3034G>T)
c.888G>T (p.Ser296=)
c.1851G>T (p.Ser617=)
c.681G>T
n.520G>T
c.2985G>T (p.Ser995=)
c.2976G>T (p.Ser992=)
c.3003G>T (p.Ser1001=)
c.3000G>T (p.Ser1000=)
c.2982G>T (p.Ser994=)
c.2925G>T (p.Ser975=)
c.2859G>T (p.Ser953=)
c.1425G>T (p.Ser475=)
c.777G>T (p.Ser259=)
c.564G>T (p.Ser188=)
c.2838G>T (p.Ser946=)
c.2973G>T (p.Ser991=)
c.2979G>T (p.Ser993=)
c.2895G>T (p.Ser965=)
c.2823G>T (p.Ser941=)
c.2757G>T (p.Ser919=)
c.2118G>T (p.Ser706=)
c.2736G>T (p.Ser912=)
 dbSNP
9g.137813133delCA2580081008EHMT1c.2995del (p.Ala999ProfsTer11)
c.2881del (p.Ala961ProfsTer11)
c.2902del (p.Ala968ProfsTer11)
c.3035del (n.3035del)
c.889del (p.Ala297ProfsTer11)
c.1852del (p.Ala618ProfsTer11)
c.682del
n.521del
c.2986del (p.Ala996ProfsTer11)
c.2977del (p.Ala993ProfsTer11)
c.3004del (p.Ala1002ProfsTer11)
c.3001del (p.Ala1001ProfsTer11)
c.2983del (p.Ala995ProfsTer11)
c.2926del (p.Ala976ProfsTer11)
c.2860del (p.Ala954ProfsTer11)
c.1426del (p.Ala476ProfsTer11)
c.778del (p.Ala260ProfsTer11)
c.565del (p.Ala189ProfsTer11)
c.2839del (p.Ala947ProfsTer11)
c.2974del (p.Ala992ProfsTer11)
c.2980del (p.Ala994ProfsTer11)
c.2896del (p.Ala966ProfsTer11)
c.2824del (p.Ala942ProfsTer11)
c.2758del (p.Ala920ProfsTer11)
c.2119del (p.Ala707ProfsTer11)
c.2737del (p.Ala913ProfsTer11)
 ClinVar
9g.137813133G>ACA375793662EHMT1c.2995G>A (p.Ala999Thr)
c.2881G>A (p.Ala961Thr)
c.2902G>A (p.Ala968Thr)
c.3035G>A (n.3035G>A)
c.889G>A (p.Ala297Thr)
c.1852G>A (p.Ala618Thr)
c.682G>A
n.521G>A
c.2986G>A (p.Ala996Thr)
c.2977G>A (p.Ala993Thr)
c.3004G>A (p.Ala1002Thr)
c.3001G>A (p.Ala1001Thr)
c.2983G>A (p.Ala995Thr)
c.2926G>A (p.Ala976Thr)
c.2860G>A (p.Ala954Thr)
c.1426G>A (p.Ala476Thr)
c.778G>A (p.Ala260Thr)
c.565G>A (p.Ala189Thr)
c.2839G>A (p.Ala947Thr)
c.2974G>A (p.Ala992Thr)
c.2980G>A (p.Ala994Thr)
c.2896G>A (p.Ala966Thr)
c.2824G>A (p.Ala942Thr)
c.2758G>A (p.Ala920Thr)
c.2119G>A (p.Ala707Thr)
c.2737G>A (p.Ala913Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.137813133G>CCA375793663EHMT1c.2995G>C (p.Ala999Pro)
c.2881G>C (p.Ala961Pro)
c.2902G>C (p.Ala968Pro)
c.3035G>C (n.3035G>C)
c.889G>C (p.Ala297Pro)
c.1852G>C (p.Ala618Pro)
c.682G>C
n.521G>C
c.2986G>C (p.Ala996Pro)
c.2977G>C (p.Ala993Pro)
c.3004G>C (p.Ala1002Pro)
c.3001G>C (p.Ala1001Pro)
c.2983G>C (p.Ala995Pro)
c.2926G>C (p.Ala976Pro)
c.2860G>C (p.Ala954Pro)
c.1426G>C (p.Ala476Pro)
c.778G>C (p.Ala260Pro)
c.565G>C (p.Ala189Pro)
c.2839G>C (p.Ala947Pro)
c.2974G>C (p.Ala992Pro)
c.2980G>C (p.Ala994Pro)
c.2896G>C (p.Ala966Pro)
c.2824G>C (p.Ala942Pro)
c.2758G>C (p.Ala920Pro)
c.2119G>C (p.Ala707Pro)
c.2737G>C (p.Ala913Pro)
 dbSNP
9g.137813133G=CA1884685719EHMT1c.2995G= (p.Ala999=)
c.2881G= (p.Ala961=)
c.2902G= (p.Ala968=)
c.3035G= (n.3035G=)
c.889G= (p.Ala297=)
c.1852G= (p.Ala618=)
c.682G=
n.521G=
c.2986G= (p.Ala996=)
c.2977G= (p.Ala993=)
c.3004G= (p.Ala1002=)
c.3001G= (p.Ala1001=)
c.2983G= (p.Ala995=)
c.2926G= (p.Ala976=)
c.2860G= (p.Ala954=)
c.1426G= (p.Ala476=)
c.778G= (p.Ala260=)
c.565G= (p.Ala189=)
c.2839G= (p.Ala947=)
c.2974G= (p.Ala992=)
c.2980G= (p.Ala994=)
c.2896G= (p.Ala966=)
c.2824G= (p.Ala942=)
c.2758G= (p.Ala920=)
c.2119G= (p.Ala707=)
c.2737G= (p.Ala913=)
9g.137813133G>TCA375793664EHMT1c.2995G>T (p.Ala999Ser)
c.2881G>T (p.Ala961Ser)
c.2902G>T (p.Ala968Ser)
c.3035G>T (n.3035G>T)
c.889G>T (p.Ala297Ser)
c.1852G>T (p.Ala618Ser)
c.682G>T
n.521G>T
c.2986G>T (p.Ala996Ser)
c.2977G>T (p.Ala993Ser)
c.3004G>T (p.Ala1002Ser)
c.3001G>T (p.Ala1001Ser)
c.2983G>T (p.Ala995Ser)
c.2926G>T (p.Ala976Ser)
c.2860G>T (p.Ala954Ser)
c.1426G>T (p.Ala476Ser)
c.778G>T (p.Ala260Ser)
c.565G>T (p.Ala189Ser)
c.2839G>T (p.Ala947Ser)
c.2974G>T (p.Ala992Ser)
c.2980G>T (p.Ala994Ser)
c.2896G>T (p.Ala966Ser)
c.2824G>T (p.Ala942Ser)
c.2758G>T (p.Ala920Ser)
c.2119G>T (p.Ala707Ser)
c.2737G>T (p.Ala913Ser)
 gnomAD v4
9g.137813133_137813134delinsGCCA1884685720EHMT1c.2995_2996delinsGC (p.Ala999=)
c.2881_2882delinsGC (p.Ala961=)
c.2902_2903delinsGC (p.Ala968=)
c.3035_3036delinsGC (n.3035_3036delinsGC)
c.889_890delinsGC (p.Ala297=)
c.1852_1853delinsGC (p.Ala618=)
c.682_683delinsGC
n.521_522delinsGC
c.2986_2987delinsGC (p.Ala996=)
c.2977_2978delinsGC (p.Ala993=)
c.3004_3005delinsGC (p.Ala1002=)
c.3001_3002delinsGC (p.Ala1001=)
c.2983_2984delinsGC (p.Ala995=)
c.2926_2927delinsGC (p.Ala976=)
c.2860_2861delinsGC (p.Ala954=)
c.1426_1427delinsGC (p.Ala476=)
c.778_779delinsGC (p.Ala260=)
c.565_566delinsGC (p.Ala189=)
c.2839_2840delinsGC (p.Ala947=)
c.2974_2975delinsGC (p.Ala992=)
c.2980_2981delinsGC (p.Ala994=)
c.2896_2897delinsGC (p.Ala966=)
c.2824_2825delinsGC (p.Ala942=)
c.2758_2759delinsGC (p.Ala920=)
c.2119_2120delinsGC (p.Ala707=)
c.2737_2738delinsGC (p.Ala913=)
9g.137813134C>ACA375793665EHMT1c.2996C>A (p.Ala999Asp)
c.2882C>A (p.Ala961Asp)
c.2903C>A (p.Ala968Asp)
c.3036C>A (n.3036C>A)
c.890C>A (p.Ala297Asp)
c.1853C>A (p.Ala618Asp)
c.683C>A
n.522C>A
c.2987C>A (p.Ala996Asp)
c.2978C>A (p.Ala993Asp)
c.3005C>A (p.Ala1002Asp)
c.3002C>A (p.Ala1001Asp)
c.2984C>A (p.Ala995Asp)
c.2927C>A (p.Ala976Asp)
c.2861C>A (p.Ala954Asp)
c.1427C>A (p.Ala476Asp)
c.779C>A (p.Ala260Asp)
c.566C>A (p.Ala189Asp)
c.2840C>A (p.Ala947Asp)
c.2975C>A (p.Ala992Asp)
c.2981C>A (p.Ala994Asp)
c.2897C>A (p.Ala966Asp)
c.2825C>A (p.Ala942Asp)
c.2759C>A (p.Ala920Asp)
c.2120C>A (p.Ala707Asp)
c.2738C>A (p.Ala913Asp)
 dbSNP
9g.137813134C=CA1884685722EHMT1c.2996C= (p.Ala999=)
c.2882C= (p.Ala961=)
c.2903C= (p.Ala968=)
c.3036C= (n.3036C=)
c.890C= (p.Ala297=)
c.1853C= (p.Ala618=)
c.683C=
n.522C=
c.2987C= (p.Ala996=)
c.2978C= (p.Ala993=)
c.3005C= (p.Ala1002=)
c.3002C= (p.Ala1001=)
c.2984C= (p.Ala995=)
c.2927C= (p.Ala976=)
c.2861C= (p.Ala954=)
c.1427C= (p.Ala476=)
c.779C= (p.Ala260=)
c.566C= (p.Ala189=)
c.2840C= (p.Ala947=)
c.2975C= (p.Ala992=)
c.2981C= (p.Ala994=)
c.2897C= (p.Ala966=)
c.2825C= (p.Ala942=)
c.2759C= (p.Ala920=)
c.2120C= (p.Ala707=)
c.2738C= (p.Ala913=)
9g.137813134C>GCA375793666EHMT1c.2996C>G (p.Ala999Gly)
c.2882C>G (p.Ala961Gly)
c.2903C>G (p.Ala968Gly)
c.3036C>G (n.3036C>G)
c.890C>G (p.Ala297Gly)
c.1853C>G (p.Ala618Gly)
c.683C>G
n.522C>G
c.2987C>G (p.Ala996Gly)
c.2978C>G (p.Ala993Gly)
c.3005C>G (p.Ala1002Gly)
c.3002C>G (p.Ala1001Gly)
c.2984C>G (p.Ala995Gly)
c.2927C>G (p.Ala976Gly)
c.2861C>G (p.Ala954Gly)
c.1427C>G (p.Ala476Gly)
c.779C>G (p.Ala260Gly)
c.566C>G (p.Ala189Gly)
c.2840C>G (p.Ala947Gly)
c.2975C>G (p.Ala992Gly)
c.2981C>G (p.Ala994Gly)
c.2897C>G (p.Ala966Gly)
c.2825C>G (p.Ala942Gly)
c.2759C>G (p.Ala920Gly)
c.2120C>G (p.Ala707Gly)
c.2738C>G (p.Ala913Gly)
 ClinVar
9g.137813134C>TCA207861EHMT1c.2996C>T (p.Ala999Val)
c.2882C>T (p.Ala961Val)
c.2903C>T (p.Ala968Val)
c.3036C>T (n.3036C>T)
c.890C>T (p.Ala297Val)
c.1853C>T (p.Ala618Val)
c.683C>T
n.522C>T
c.2987C>T (p.Ala996Val)
c.2978C>T (p.Ala993Val)
c.3005C>T (p.Ala1002Val)
c.3002C>T (p.Ala1001Val)
c.2984C>T (p.Ala995Val)
c.2927C>T (p.Ala976Val)
c.2861C>T (p.Ala954Val)
c.1427C>T (p.Ala476Val)
c.779C>T (p.Ala260Val)
c.566C>T (p.Ala189Val)
c.2840C>T (p.Ala947Val)
c.2975C>T (p.Ala992Val)
c.2981C>T (p.Ala994Val)
c.2897C>T (p.Ala966Val)
c.2825C>T (p.Ala942Val)
c.2759C>T (p.Ala920Val)
c.2120C>T (p.Ala707Val)
c.2738C>T (p.Ala913Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813138delCA1884685721EHMT1c.3000del (p.Asp1001ThrfsTer9)
c.2886del (p.Asp963ThrfsTer9)
c.2907del (p.Asp970ThrfsTer9)
c.3040del (n.3040del)
c.894del (p.Asp299ThrfsTer9)
c.1857del (p.Asp620ThrfsTer9)
c.687del
n.526del
c.2991del (p.Asp998ThrfsTer9)
c.2982del (p.Asp995ThrfsTer9)
c.3009del (p.Asp1004ThrfsTer9)
c.3006del (p.Asp1003ThrfsTer9)
c.2988del (p.Asp997ThrfsTer9)
c.2931del (p.Asp978ThrfsTer9)
c.2865del (p.Asp956ThrfsTer9)
c.1431del (p.Asp478ThrfsTer9)
c.783del (p.Asp262ThrfsTer9)
c.570del (p.Asp191ThrfsTer9)
c.2844del (p.Asp949ThrfsTer9)
c.2979del (p.Asp994ThrfsTer9)
c.2985del (p.Asp996ThrfsTer9)
c.2901del (p.Asp968ThrfsTer9)
c.2829del (p.Asp944ThrfsTer9)
c.2763del (p.Asp922ThrfsTer9)
c.2124del (p.Asp709ThrfsTer9)
c.2742del (p.Asp915ThrfsTer9)
 ClinVar dbSNP gnomAD v4
9g.137813135C>ACA468161090EHMT1c.2997C>A (p.Ala999=)
c.2883C>A (p.Ala961=)
c.2904C>A (p.Ala968=)
c.3037C>A (n.3037C>A)
c.891C>A (p.Ala297=)
c.1854C>A (p.Ala618=)
c.684C>A
n.523C>A
c.2988C>A (p.Ala996=)
c.2979C>A (p.Ala993=)
c.3006C>A (p.Ala1002=)
c.3003C>A (p.Ala1001=)
c.2985C>A (p.Ala995=)
c.2928C>A (p.Ala976=)
c.2862C>A (p.Ala954=)
c.1428C>A (p.Ala476=)
c.780C>A (p.Ala260=)
c.567C>A (p.Ala189=)
c.2841C>A (p.Ala947=)
c.2976C>A (p.Ala992=)
c.2982C>A (p.Ala994=)
c.2898C>A (p.Ala966=)
c.2826C>A (p.Ala942=)
c.2760C>A (p.Ala920=)
c.2121C>A (p.Ala707=)
c.2739C>A (p.Ala913=)
9g.137813135C=CA1884685723EHMT1c.2997C= (p.Ala999=)
c.2883C= (p.Ala961=)
c.2904C= (p.Ala968=)
c.3037C= (n.3037C=)
c.891C= (p.Ala297=)
c.1854C= (p.Ala618=)
c.684C=
n.523C=
c.2988C= (p.Ala996=)
c.2979C= (p.Ala993=)
c.3006C= (p.Ala1002=)
c.3003C= (p.Ala1001=)
c.2985C= (p.Ala995=)
c.2928C= (p.Ala976=)
c.2862C= (p.Ala954=)
c.1428C= (p.Ala476=)
c.780C= (p.Ala260=)
c.567C= (p.Ala189=)
c.2841C= (p.Ala947=)
c.2976C= (p.Ala992=)
c.2982C= (p.Ala994=)
c.2898C= (p.Ala966=)
c.2826C= (p.Ala942=)
c.2760C= (p.Ala920=)
c.2121C= (p.Ala707=)
c.2739C= (p.Ala913=)
9g.137813135C>GCA5375123EHMT1c.2997C>G (p.Ala999=)
c.2883C>G (p.Ala961=)
c.2904C>G (p.Ala968=)
c.3037C>G (n.3037C>G)
c.891C>G (p.Ala297=)
c.1854C>G (p.Ala618=)
c.684C>G
n.523C>G
c.2988C>G (p.Ala996=)
c.2979C>G (p.Ala993=)
c.3006C>G (p.Ala1002=)
c.3003C>G (p.Ala1001=)
c.2985C>G (p.Ala995=)
c.2928C>G (p.Ala976=)
c.2862C>G (p.Ala954=)
c.1428C>G (p.Ala476=)
c.780C>G (p.Ala260=)
c.567C>G (p.Ala189=)
c.2841C>G (p.Ala947=)
c.2976C>G (p.Ala992=)
c.2982C>G (p.Ala994=)
c.2898C>G (p.Ala966=)
c.2826C>G (p.Ala942=)
c.2760C>G (p.Ala920=)
c.2121C>G (p.Ala707=)
c.2739C>G (p.Ala913=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813135C>TCA468161091EHMT1c.2997C>T (p.Ala999=)
c.2883C>T (p.Ala961=)
c.2904C>T (p.Ala968=)
c.3037C>T (n.3037C>T)
c.891C>T (p.Ala297=)
c.1854C>T (p.Ala618=)
c.684C>T
n.523C>T
c.2988C>T (p.Ala996=)
c.2979C>T (p.Ala993=)
c.3006C>T (p.Ala1002=)
c.3003C>T (p.Ala1001=)
c.2985C>T (p.Ala995=)
c.2928C>T (p.Ala976=)
c.2862C>T (p.Ala954=)
c.1428C>T (p.Ala476=)
c.780C>T (p.Ala260=)
c.567C>T (p.Ala189=)
c.2841C>T (p.Ala947=)
c.2976C>T (p.Ala992=)
c.2982C>T (p.Ala994=)
c.2898C>T (p.Ala966=)
c.2826C>T (p.Ala942=)
c.2760C>T (p.Ala920=)
c.2121C>T (p.Ala707=)
c.2739C>T (p.Ala913=)
 gnomAD v4
9g.137813136C>ACA375793667EHMT1c.2998C>A (p.Pro1000Thr)
c.2884C>A (p.Pro962Thr)
c.2905C>A (p.Pro969Thr)
c.3038C>A (n.3038C>A)
c.892C>A (p.Pro298Thr)
c.1855C>A (p.Pro619Thr)
c.685C>A
n.524C>A
c.2989C>A (p.Pro997Thr)
c.2980C>A (p.Pro994Thr)
c.3007C>A (p.Pro1003Thr)
c.3004C>A (p.Pro1002Thr)
c.2986C>A (p.Pro996Thr)
c.2929C>A (p.Pro977Thr)
c.2863C>A (p.Pro955Thr)
c.1429C>A (p.Pro477Thr)
c.781C>A (p.Pro261Thr)
c.568C>A (p.Pro190Thr)
c.2842C>A (p.Pro948Thr)
c.2977C>A (p.Pro993Thr)
c.2983C>A (p.Pro995Thr)
c.2899C>A (p.Pro967Thr)
c.2827C>A (p.Pro943Thr)
c.2761C>A (p.Pro921Thr)
c.2122C>A (p.Pro708Thr)
c.2740C>A (p.Pro914Thr)
9g.137813136C>GCA375793668EHMT1c.2998C>G (p.Pro1000Ala)
c.2884C>G (p.Pro962Ala)
c.2905C>G (p.Pro969Ala)
c.3038C>G (n.3038C>G)
c.892C>G (p.Pro298Ala)
c.1855C>G (p.Pro619Ala)
c.685C>G
n.524C>G
c.2989C>G (p.Pro997Ala)
c.2980C>G (p.Pro994Ala)
c.3007C>G (p.Pro1003Ala)
c.3004C>G (p.Pro1002Ala)
c.2986C>G (p.Pro996Ala)
c.2929C>G (p.Pro977Ala)
c.2863C>G (p.Pro955Ala)
c.1429C>G (p.Pro477Ala)
c.781C>G (p.Pro261Ala)
c.568C>G (p.Pro190Ala)
c.2842C>G (p.Pro948Ala)
c.2977C>G (p.Pro993Ala)
c.2983C>G (p.Pro995Ala)
c.2899C>G (p.Pro967Ala)
c.2827C>G (p.Pro943Ala)
c.2761C>G (p.Pro921Ala)
c.2122C>G (p.Pro708Ala)
c.2740C>G (p.Pro914Ala)
9g.137813136C>TCA375793669EHMT1c.2998C>T (p.Pro1000Ser)
c.2884C>T (p.Pro962Ser)
c.2905C>T (p.Pro969Ser)
c.3038C>T (n.3038C>T)
c.892C>T (p.Pro298Ser)
c.1855C>T (p.Pro619Ser)
c.685C>T
n.524C>T
c.2989C>T (p.Pro997Ser)
c.2980C>T (p.Pro994Ser)
c.3007C>T (p.Pro1003Ser)
c.3004C>T (p.Pro1002Ser)
c.2986C>T (p.Pro996Ser)
c.2929C>T (p.Pro977Ser)
c.2863C>T (p.Pro955Ser)
c.1429C>T (p.Pro477Ser)
c.781C>T (p.Pro261Ser)
c.568C>T (p.Pro190Ser)
c.2842C>T (p.Pro948Ser)
c.2977C>T (p.Pro993Ser)
c.2983C>T (p.Pro995Ser)
c.2899C>T (p.Pro967Ser)
c.2827C>T (p.Pro943Ser)
c.2761C>T (p.Pro921Ser)
c.2122C>T (p.Pro708Ser)
c.2740C>T (p.Pro914Ser)
9g.137813137C>ACA375793671EHMT1c.2999C>A (p.Pro1000His)
c.2885C>A (p.Pro962His)
c.2906C>A (p.Pro969His)
c.3039C>A (n.3039C>A)
c.893C>A (p.Pro298His)
c.1856C>A (p.Pro619His)
c.686C>A
n.525C>A
c.2990C>A (p.Pro997His)
c.2981C>A (p.Pro994His)
c.3008C>A (p.Pro1003His)
c.3005C>A (p.Pro1002His)
c.2987C>A (p.Pro996His)
c.2930C>A (p.Pro977His)
c.2864C>A (p.Pro955His)
c.1430C>A (p.Pro477His)
c.782C>A (p.Pro261His)
c.569C>A (p.Pro190His)
c.2843C>A (p.Pro948His)
c.2978C>A (p.Pro993His)
c.2984C>A (p.Pro995His)
c.2900C>A (p.Pro967His)
c.2828C>A (p.Pro943His)
c.2762C>A (p.Pro921His)
c.2123C>A (p.Pro708His)
c.2741C>A (p.Pro914His)
9g.137813137C=CA1884685724EHMT1c.2999C= (p.Pro1000=)
c.2885C= (p.Pro962=)
c.2906C= (p.Pro969=)
c.3039C= (n.3039C=)
c.893C= (p.Pro298=)
c.1856C= (p.Pro619=)
c.686C=
n.525C=
c.2990C= (p.Pro997=)
c.2981C= (p.Pro994=)
c.3008C= (p.Pro1003=)
c.3005C= (p.Pro1002=)
c.2987C= (p.Pro996=)
c.2930C= (p.Pro977=)
c.2864C= (p.Pro955=)
c.1430C= (p.Pro477=)
c.782C= (p.Pro261=)
c.569C= (p.Pro190=)
c.2843C= (p.Pro948=)
c.2978C= (p.Pro993=)
c.2984C= (p.Pro995=)
c.2900C= (p.Pro967=)
c.2828C= (p.Pro943=)
c.2762C= (p.Pro921=)
c.2123C= (p.Pro708=)
c.2741C= (p.Pro914=)
9g.137813137C>GCA375793672EHMT1c.2999C>G (p.Pro1000Arg)
c.2885C>G (p.Pro962Arg)
c.2906C>G (p.Pro969Arg)
c.3039C>G (n.3039C>G)
c.893C>G (p.Pro298Arg)
c.1856C>G (p.Pro619Arg)
c.686C>G
n.525C>G
c.2990C>G (p.Pro997Arg)
c.2981C>G (p.Pro994Arg)
c.3008C>G (p.Pro1003Arg)
c.3005C>G (p.Pro1002Arg)
c.2987C>G (p.Pro996Arg)
c.2930C>G (p.Pro977Arg)
c.2864C>G (p.Pro955Arg)
c.1430C>G (p.Pro477Arg)
c.782C>G (p.Pro261Arg)
c.569C>G (p.Pro190Arg)
c.2843C>G (p.Pro948Arg)
c.2978C>G (p.Pro993Arg)
c.2984C>G (p.Pro995Arg)
c.2900C>G (p.Pro967Arg)
c.2828C>G (p.Pro943Arg)
c.2762C>G (p.Pro921Arg)
c.2123C>G (p.Pro708Arg)
c.2741C>G (p.Pro914Arg)
 dbSNP
9g.137813137C>TCA375793670EHMT1c.2999C>T (p.Pro1000Leu)
c.2885C>T (p.Pro962Leu)
c.2906C>T (p.Pro969Leu)
c.3039C>T (n.3039C>T)
c.893C>T (p.Pro298Leu)
c.1856C>T (p.Pro619Leu)
c.686C>T
n.525C>T
c.2990C>T (p.Pro997Leu)
c.2981C>T (p.Pro994Leu)
c.3008C>T (p.Pro1003Leu)
c.3005C>T (p.Pro1002Leu)
c.2987C>T (p.Pro996Leu)
c.2930C>T (p.Pro977Leu)
c.2864C>T (p.Pro955Leu)
c.1430C>T (p.Pro477Leu)
c.782C>T (p.Pro261Leu)
c.569C>T (p.Pro190Leu)
c.2843C>T (p.Pro948Leu)
c.2978C>T (p.Pro993Leu)
c.2984C>T (p.Pro995Leu)
c.2900C>T (p.Pro967Leu)
c.2828C>T (p.Pro943Leu)
c.2762C>T (p.Pro921Leu)
c.2123C>T (p.Pro708Leu)
c.2741C>T (p.Pro914Leu)
9g.137813138C>ACA468161092EHMT1c.3000C>A (p.Pro1000=)
c.2886C>A (p.Pro962=)
c.2907C>A (p.Pro969=)
c.3040C>A (n.3040C>A)
c.894C>A (p.Pro298=)
c.1857C>A (p.Pro619=)
c.687C>A
n.526C>A
c.2991C>A (p.Pro997=)
c.2982C>A (p.Pro994=)
c.3009C>A (p.Pro1003=)
c.3006C>A (p.Pro1002=)
c.2988C>A (p.Pro996=)
c.2931C>A (p.Pro977=)
c.2865C>A (p.Pro955=)
c.1431C>A (p.Pro477=)
c.783C>A (p.Pro261=)
c.570C>A (p.Pro190=)
c.2844C>A (p.Pro948=)
c.2979C>A (p.Pro993=)
c.2985C>A (p.Pro995=)
c.2901C>A (p.Pro967=)
c.2829C>A (p.Pro943=)
c.2763C>A (p.Pro921=)
c.2124C>A (p.Pro708=)
c.2742C>A (p.Pro914=)
9g.137813138C=CA1884685725EHMT1c.3000C= (p.Pro1000=)
c.2886C= (p.Pro962=)
c.2907C= (p.Pro969=)
c.3040C= (n.3040C=)
c.894C= (p.Pro298=)
c.1857C= (p.Pro619=)
c.687C=
n.526C=
c.2991C= (p.Pro997=)
c.2982C= (p.Pro994=)
c.3009C= (p.Pro1003=)
c.3006C= (p.Pro1002=)
c.2988C= (p.Pro996=)
c.2931C= (p.Pro977=)
c.2865C= (p.Pro955=)
c.1431C= (p.Pro477=)
c.783C= (p.Pro261=)
c.570C= (p.Pro190=)
c.2844C= (p.Pro948=)
c.2979C= (p.Pro993=)
c.2985C= (p.Pro995=)
c.2901C= (p.Pro967=)
c.2829C= (p.Pro943=)
c.2763C= (p.Pro921=)
c.2124C= (p.Pro708=)
c.2742C= (p.Pro914=)
9g.137813138C>GCA468161093EHMT1c.3000C>G (p.Pro1000=)
c.2886C>G (p.Pro962=)
c.2907C>G (p.Pro969=)
c.3040C>G (n.3040C>G)
c.894C>G (p.Pro298=)
c.1857C>G (p.Pro619=)
c.687C>G
n.526C>G
c.2991C>G (p.Pro997=)
c.2982C>G (p.Pro994=)
c.3009C>G (p.Pro1003=)
c.3006C>G (p.Pro1002=)
c.2988C>G (p.Pro996=)
c.2931C>G (p.Pro977=)
c.2865C>G (p.Pro955=)
c.1431C>G (p.Pro477=)
c.783C>G (p.Pro261=)
c.570C>G (p.Pro190=)
c.2844C>G (p.Pro948=)
c.2979C>G (p.Pro993=)
c.2985C>G (p.Pro995=)
c.2901C>G (p.Pro967=)
c.2829C>G (p.Pro943=)
c.2763C>G (p.Pro921=)
c.2124C>G (p.Pro708=)
c.2742C>G (p.Pro914=)
9g.137813138C>TCA149295EHMT1c.3000C>T (p.Pro1000=)
c.2886C>T (p.Pro962=)
c.2907C>T (p.Pro969=)
c.3040C>T (n.3040C>T)
c.894C>T (p.Pro298=)
c.1857C>T (p.Pro619=)
c.687C>T
n.526C>T
c.2991C>T (p.Pro997=)
c.2982C>T (p.Pro994=)
c.3009C>T (p.Pro1003=)
c.3006C>T (p.Pro1002=)
c.2988C>T (p.Pro996=)
c.2931C>T (p.Pro977=)
c.2865C>T (p.Pro955=)
c.1431C>T (p.Pro477=)
c.783C>T (p.Pro261=)
c.570C>T (p.Pro190=)
c.2844C>T (p.Pro948=)
c.2979C>T (p.Pro993=)
c.2985C>T (p.Pro995=)
c.2901C>T (p.Pro967=)
c.2829C>T (p.Pro943=)
c.2763C>T (p.Pro921=)
c.2124C>T (p.Pro708=)
c.2742C>T (p.Pro914=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813139G>ACA5375124EHMT1c.3001G>A (p.Asp1001Asn)
c.2887G>A (p.Asp963Asn)
c.2908G>A (p.Asp970Asn)
c.3041G>A (n.3041G>A)
c.895G>A (p.Asp299Asn)
c.1858G>A (p.Asp620Asn)
c.688G>A
n.527G>A
c.2992G>A (p.Asp998Asn)
c.2983G>A (p.Asp995Asn)
c.3010G>A (p.Asp1004Asn)
c.3007G>A (p.Asp1003Asn)
c.2989G>A (p.Asp997Asn)
c.2932G>A (p.Asp978Asn)
c.2866G>A (p.Asp956Asn)
c.1432G>A (p.Asp478Asn)
c.784G>A (p.Asp262Asn)
c.571G>A (p.Asp191Asn)
c.2845G>A (p.Asp949Asn)
c.2980G>A (p.Asp994Asn)
c.2986G>A (p.Asp996Asn)
c.2902G>A (p.Asp968Asn)
c.2830G>A (p.Asp944Asn)
c.2764G>A (p.Asp922Asn)
c.2125G>A (p.Asp709Asn)
c.2743G>A (p.Asp915Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813139G>CCA375793673EHMT1c.3001G>C (p.Asp1001His)
c.2887G>C (p.Asp963His)
c.2908G>C (p.Asp970His)
c.3041G>C (n.3041G>C)
c.895G>C (p.Asp299His)
c.1858G>C (p.Asp620His)
c.688G>C
n.527G>C
c.2992G>C (p.Asp998His)
c.2983G>C (p.Asp995His)
c.3010G>C (p.Asp1004His)
c.3007G>C (p.Asp1003His)
c.2989G>C (p.Asp997His)
c.2932G>C (p.Asp978His)
c.2866G>C (p.Asp956His)
c.1432G>C (p.Asp478His)
c.784G>C (p.Asp262His)
c.571G>C (p.Asp191His)
c.2845G>C (p.Asp949His)
c.2980G>C (p.Asp994His)
c.2986G>C (p.Asp996His)
c.2902G>C (p.Asp968His)
c.2830G>C (p.Asp944His)
c.2764G>C (p.Asp922His)
c.2125G>C (p.Asp709His)
c.2743G>C (p.Asp915His)
9g.137813139G=CA1884685726EHMT1c.3001G= (p.Asp1001=)
c.2887G= (p.Asp963=)
c.2908G= (p.Asp970=)
c.3041G= (n.3041G=)
c.895G= (p.Asp299=)
c.1858G= (p.Asp620=)
c.688G=
n.527G=
c.2992G= (p.Asp998=)
c.2983G= (p.Asp995=)
c.3010G= (p.Asp1004=)
c.3007G= (p.Asp1003=)
c.2989G= (p.Asp997=)
c.2932G= (p.Asp978=)
c.2866G= (p.Asp956=)
c.1432G= (p.Asp478=)
c.784G= (p.Asp262=)
c.571G= (p.Asp191=)
c.2845G= (p.Asp949=)
c.2980G= (p.Asp994=)
c.2986G= (p.Asp996=)
c.2902G= (p.Asp968=)
c.2830G= (p.Asp944=)
c.2764G= (p.Asp922=)
c.2125G= (p.Asp709=)
c.2743G= (p.Asp915=)
9g.137813139G>TCA375793674EHMT1c.3001G>T (p.Asp1001Tyr)
c.2887G>T (p.Asp963Tyr)
c.2908G>T (p.Asp970Tyr)
c.3041G>T (n.3041G>T)
c.895G>T (p.Asp299Tyr)
c.1858G>T (p.Asp620Tyr)
c.688G>T
n.527G>T
c.2992G>T (p.Asp998Tyr)
c.2983G>T (p.Asp995Tyr)
c.3010G>T (p.Asp1004Tyr)
c.3007G>T (p.Asp1003Tyr)
c.2989G>T (p.Asp997Tyr)
c.2932G>T (p.Asp978Tyr)
c.2866G>T (p.Asp956Tyr)
c.1432G>T (p.Asp478Tyr)
c.784G>T (p.Asp262Tyr)
c.571G>T (p.Asp191Tyr)
c.2845G>T (p.Asp949Tyr)
c.2980G>T (p.Asp994Tyr)
c.2986G>T (p.Asp996Tyr)
c.2902G>T (p.Asp968Tyr)
c.2830G>T (p.Asp944Tyr)
c.2764G>T (p.Asp922Tyr)
c.2125G>T (p.Asp709Tyr)
c.2743G>T (p.Asp915Tyr)
 gnomAD v4
9g.137813140A>CCA375793675EHMT1c.3002A>C (p.Asp1001Ala)
c.2888A>C (p.Asp963Ala)
c.2909A>C (p.Asp970Ala)
c.3042A>C (n.3042A>C)
c.896A>C (p.Asp299Ala)
c.1859A>C (p.Asp620Ala)
c.689A>C
n.528A>C
c.2993A>C (p.Asp998Ala)
c.2984A>C (p.Asp995Ala)
c.3011A>C (p.Asp1004Ala)
c.3008A>C (p.Asp1003Ala)
c.2990A>C (p.Asp997Ala)
c.2933A>C (p.Asp978Ala)
c.2867A>C (p.Asp956Ala)
c.1433A>C (p.Asp478Ala)
c.785A>C (p.Asp262Ala)
c.572A>C (p.Asp191Ala)
c.2846A>C (p.Asp949Ala)
c.2981A>C (p.Asp994Ala)
c.2987A>C (p.Asp996Ala)
c.2903A>C (p.Asp968Ala)
c.2831A>C (p.Asp944Ala)
c.2765A>C (p.Asp922Ala)
c.2126A>C (p.Asp709Ala)
c.2744A>C (p.Asp915Ala)
9g.137813140A>GCA375793676EHMT1c.3002A>G (p.Asp1001Gly)
c.2888A>G (p.Asp963Gly)
c.2909A>G (p.Asp970Gly)
c.3042A>G (n.3042A>G)
c.896A>G (p.Asp299Gly)
c.1859A>G (p.Asp620Gly)
c.689A>G
n.528A>G
c.2993A>G (p.Asp998Gly)
c.2984A>G (p.Asp995Gly)
c.3011A>G (p.Asp1004Gly)
c.3008A>G (p.Asp1003Gly)
c.2990A>G (p.Asp997Gly)
c.2933A>G (p.Asp978Gly)
c.2867A>G (p.Asp956Gly)
c.1433A>G (p.Asp478Gly)
c.785A>G (p.Asp262Gly)
c.572A>G (p.Asp191Gly)
c.2846A>G (p.Asp949Gly)
c.2981A>G (p.Asp994Gly)
c.2987A>G (p.Asp996Gly)
c.2903A>G (p.Asp968Gly)
c.2831A>G (p.Asp944Gly)
c.2765A>G (p.Asp922Gly)
c.2126A>G (p.Asp709Gly)
c.2744A>G (p.Asp915Gly)
9g.137813140A>TCA375793677EHMT1c.3002A>T (p.Asp1001Val)
c.2888A>T (p.Asp963Val)
c.2909A>T (p.Asp970Val)
c.3042A>T (n.3042A>T)
c.896A>T (p.Asp299Val)
c.1859A>T (p.Asp620Val)
c.689A>T
n.528A>T
c.2993A>T (p.Asp998Val)
c.2984A>T (p.Asp995Val)
c.3011A>T (p.Asp1004Val)
c.3008A>T (p.Asp1003Val)
c.2990A>T (p.Asp997Val)
c.2933A>T (p.Asp978Val)
c.2867A>T (p.Asp956Val)
c.1433A>T (p.Asp478Val)
c.785A>T (p.Asp262Val)
c.572A>T (p.Asp191Val)
c.2846A>T (p.Asp949Val)
c.2981A>T (p.Asp994Val)
c.2987A>T (p.Asp996Val)
c.2903A>T (p.Asp968Val)
c.2831A>T (p.Asp944Val)
c.2765A>T (p.Asp922Val)
c.2126A>T (p.Asp709Val)
c.2744A>T (p.Asp915Val)
9g.137813141C>ACA375793678EHMT1c.3003C>A (p.Asp1001Glu)
c.2889C>A (p.Asp963Glu)
c.2910C>A (p.Asp970Glu)
c.3043C>A (n.3043C>A)
c.897C>A (p.Asp299Glu)
c.1860C>A (p.Asp620Glu)
c.690C>A
n.529C>A
c.2994C>A (p.Asp998Glu)
c.2985C>A (p.Asp995Glu)
c.3012C>A (p.Asp1004Glu)
c.3009C>A (p.Asp1003Glu)
c.2991C>A (p.Asp997Glu)
c.2934C>A (p.Asp978Glu)
c.2868C>A (p.Asp956Glu)
c.1434C>A (p.Asp478Glu)
c.786C>A (p.Asp262Glu)
c.573C>A (p.Asp191Glu)
c.2847C>A (p.Asp949Glu)
c.2982C>A (p.Asp994Glu)
c.2988C>A (p.Asp996Glu)
c.2904C>A (p.Asp968Glu)
c.2832C>A (p.Asp944Glu)
c.2766C>A (p.Asp922Glu)
c.2127C>A (p.Asp709Glu)
c.2745C>A (p.Asp915Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.137813141C=CA1884685727EHMT1c.3003C= (p.Asp1001=)
c.2889C= (p.Asp963=)
c.2910C= (p.Asp970=)
c.3043C= (n.3043C=)
c.897C= (p.Asp299=)
c.1860C= (p.Asp620=)
c.690C=
n.529C=
c.2994C= (p.Asp998=)
c.2985C= (p.Asp995=)
c.3012C= (p.Asp1004=)
c.3009C= (p.Asp1003=)
c.2991C= (p.Asp997=)
c.2934C= (p.Asp978=)
c.2868C= (p.Asp956=)
c.1434C= (p.Asp478=)
c.786C= (p.Asp262=)
c.573C= (p.Asp191=)
c.2847C= (p.Asp949=)
c.2982C= (p.Asp994=)
c.2988C= (p.Asp996=)
c.2904C= (p.Asp968=)
c.2832C= (p.Asp944=)
c.2766C= (p.Asp922=)
c.2127C= (p.Asp709=)
c.2745C= (p.Asp915=)
9g.137813141C>GCA375793679EHMT1c.3003C>G (p.Asp1001Glu)
c.2889C>G (p.Asp963Glu)
c.2910C>G (p.Asp970Glu)
c.3043C>G (n.3043C>G)
c.897C>G (p.Asp299Glu)
c.1860C>G (p.Asp620Glu)
c.690C>G
n.529C>G
c.2994C>G (p.Asp998Glu)
c.2985C>G (p.Asp995Glu)
c.3012C>G (p.Asp1004Glu)
c.3009C>G (p.Asp1003Glu)
c.2991C>G (p.Asp997Glu)
c.2934C>G (p.Asp978Glu)
c.2868C>G (p.Asp956Glu)
c.1434C>G (p.Asp478Glu)
c.786C>G (p.Asp262Glu)
c.573C>G (p.Asp191Glu)
c.2847C>G (p.Asp949Glu)
c.2982C>G (p.Asp994Glu)
c.2988C>G (p.Asp996Glu)
c.2904C>G (p.Asp968Glu)
c.2832C>G (p.Asp944Glu)
c.2766C>G (p.Asp922Glu)
c.2127C>G (p.Asp709Glu)
c.2745C>G (p.Asp915Glu)
9g.137813141C>TCA468161094EHMT1c.3003C>T (p.Asp1001=)
c.2889C>T (p.Asp963=)
c.2910C>T (p.Asp970=)
c.3043C>T (n.3043C>T)
c.897C>T (p.Asp299=)
c.1860C>T (p.Asp620=)
c.690C>T
n.529C>T
c.2994C>T (p.Asp998=)
c.2985C>T (p.Asp995=)
c.3012C>T (p.Asp1004=)
c.3009C>T (p.Asp1003=)
c.2991C>T (p.Asp997=)
c.2934C>T (p.Asp978=)
c.2868C>T (p.Asp956=)
c.1434C>T (p.Asp478=)
c.786C>T (p.Asp262=)
c.573C>T (p.Asp191=)
c.2847C>T (p.Asp949=)
c.2982C>T (p.Asp994=)
c.2988C>T (p.Asp996=)
c.2904C>T (p.Asp968=)
c.2832C>T (p.Asp944=)
c.2766C>T (p.Asp922=)
c.2127C>T (p.Asp709=)
c.2745C>T (p.Asp915=)
 ClinVar dbSNP gnomAD v4
9g.137813144_137813149dupCA2692890676EHMT1c.3006_3011dup (p.Pro1003_Ser1004insArgPro)
c.2892_2897dup (p.Pro965_Ser966insArgPro)
c.2913_2918dup (p.Pro972_Ser973insArgPro)
c.3046_3051dup (n.3046_3051dup)
c.900_905dup (p.Pro301_Ser302insArgPro)
c.1863_1868dup (p.Pro622_Ser623insArgPro)
c.693_698dup
n.532_537dup
c.2997_3002dup (p.Pro1000_Ser1001insArgPro)
c.2988_2993dup (p.Pro997_Ser998insArgPro)
c.3015_3020dup (p.Pro1006_Ser1007insArgPro)
c.3012_3017dup (p.Pro1005_Ser1006insArgPro)
c.2994_2999dup (p.Pro999_Ser1000insArgPro)
c.2937_2942dup (p.Pro980_Ser981insArgPro)
c.2871_2876dup (p.Pro958_Ser959insArgPro)
c.1437_1442dup (p.Pro480_Ser481insArgPro)
c.789_794dup (p.Pro264_Ser265insArgPro)
c.576_581dup (p.Pro193_Ser194insArgPro)
c.2850_2855dup (p.Pro951_Ser952insArgPro)
c.2985_2990dup (p.Pro996_Ser997insArgPro)
c.2991_2996dup (p.Pro998_Ser999insArgPro)
c.2907_2912dup (p.Pro970_Ser971insArgPro)
c.2835_2840dup (p.Pro946_Ser947insArgPro)
c.2769_2774dup (p.Pro924_Ser925insArgPro)
c.2130_2135dup (p.Pro711_Ser712insArgPro)
c.2748_2753dup (p.Pro917_Ser918insArgPro)
 gnomAD v4
9g.137813142A>CCA468161095EHMT1c.3004A>C (p.Arg1002=)
c.2890A>C (p.Arg964=)
c.2911A>C (p.Arg971=)
c.3044A>C (n.3044A>C)
c.898A>C (p.Arg300=)
c.1861A>C (p.Arg621=)
c.691A>C
n.530A>C
c.2995A>C (p.Arg999=)
c.2986A>C (p.Arg996=)
c.3013A>C (p.Arg1005=)
c.3010A>C (p.Arg1004=)
c.2992A>C (p.Arg998=)
c.2935A>C (p.Arg979=)
c.2869A>C (p.Arg957=)
c.1435A>C (p.Arg479=)
c.787A>C (p.Arg263=)
c.574A>C (p.Arg192=)
c.2848A>C (p.Arg950=)
c.2983A>C (p.Arg995=)
c.2989A>C (p.Arg997=)
c.2905A>C (p.Arg969=)
c.2833A>C (p.Arg945=)
c.2767A>C (p.Arg923=)
c.2128A>C (p.Arg710=)
c.2746A>C (p.Arg916=)
9g.137813142A>GCA375793680EHMT1c.3004A>G (p.Arg1002Gly)
c.2890A>G (p.Arg964Gly)
c.2911A>G (p.Arg971Gly)
c.3044A>G (n.3044A>G)
c.898A>G (p.Arg300Gly)
c.1861A>G (p.Arg621Gly)
c.691A>G
n.530A>G
c.2995A>G (p.Arg999Gly)
c.2986A>G (p.Arg996Gly)
c.3013A>G (p.Arg1005Gly)
c.3010A>G (p.Arg1004Gly)
c.2992A>G (p.Arg998Gly)
c.2935A>G (p.Arg979Gly)
c.2869A>G (p.Arg957Gly)
c.1435A>G (p.Arg479Gly)
c.787A>G (p.Arg263Gly)
c.574A>G (p.Arg192Gly)
c.2848A>G (p.Arg950Gly)
c.2983A>G (p.Arg995Gly)
c.2989A>G (p.Arg997Gly)
c.2905A>G (p.Arg969Gly)
c.2833A>G (p.Arg945Gly)
c.2767A>G (p.Arg923Gly)
c.2128A>G (p.Arg710Gly)
c.2746A>G (p.Arg916Gly)
9g.137813142A>TCA375793681EHMT1c.3004A>T (p.Arg1002Trp)
c.2890A>T (p.Arg964Trp)
c.2911A>T (p.Arg971Trp)
c.3044A>T (n.3044A>T)
c.898A>T (p.Arg300Trp)
c.1861A>T (p.Arg621Trp)
c.691A>T
n.530A>T
c.2995A>T (p.Arg999Trp)
c.2986A>T (p.Arg996Trp)
c.3013A>T (p.Arg1005Trp)
c.3010A>T (p.Arg1004Trp)
c.2992A>T (p.Arg998Trp)
c.2935A>T (p.Arg979Trp)
c.2869A>T (p.Arg957Trp)
c.1435A>T (p.Arg479Trp)
c.787A>T (p.Arg263Trp)
c.574A>T (p.Arg192Trp)
c.2848A>T (p.Arg950Trp)
c.2983A>T (p.Arg995Trp)
c.2989A>T (p.Arg997Trp)
c.2905A>T (p.Arg969Trp)
c.2833A>T (p.Arg945Trp)
c.2767A>T (p.Arg923Trp)
c.2128A>T (p.Arg710Trp)
c.2746A>T (p.Arg916Trp)
9g.137813143G>ACA375793683EHMT1c.3005G>A (p.Arg1002Lys)
c.2891G>A (p.Arg964Lys)
c.2912G>A (p.Arg971Lys)
c.3045G>A (n.3045G>A)
c.899G>A (p.Arg300Lys)
c.1862G>A (p.Arg621Lys)
c.692G>A
n.531G>A
c.2996G>A (p.Arg999Lys)
c.2987G>A (p.Arg996Lys)
c.3014G>A (p.Arg1005Lys)
c.3011G>A (p.Arg1004Lys)
c.2993G>A (p.Arg998Lys)
c.2936G>A (p.Arg979Lys)
c.2870G>A (p.Arg957Lys)
c.1436G>A (p.Arg479Lys)
c.788G>A (p.Arg263Lys)
c.575G>A (p.Arg192Lys)
c.2849G>A (p.Arg950Lys)
c.2984G>A (p.Arg995Lys)
c.2990G>A (p.Arg997Lys)
c.2906G>A (p.Arg969Lys)
c.2834G>A (p.Arg945Lys)
c.2768G>A (p.Arg923Lys)
c.2129G>A (p.Arg710Lys)
c.2747G>A (p.Arg916Lys)
9g.137813143G>CCA375793684EHMT1c.3005G>C (p.Arg1002Thr)
c.2891G>C (p.Arg964Thr)
c.2912G>C (p.Arg971Thr)
c.3045G>C (n.3045G>C)
c.899G>C (p.Arg300Thr)
c.1862G>C (p.Arg621Thr)
c.692G>C
n.531G>C
c.2996G>C (p.Arg999Thr)
c.2987G>C (p.Arg996Thr)
c.3014G>C (p.Arg1005Thr)
c.3011G>C (p.Arg1004Thr)
c.2993G>C (p.Arg998Thr)
c.2936G>C (p.Arg979Thr)
c.2870G>C (p.Arg957Thr)
c.1436G>C (p.Arg479Thr)
c.788G>C (p.Arg263Thr)
c.575G>C (p.Arg192Thr)
c.2849G>C (p.Arg950Thr)
c.2984G>C (p.Arg995Thr)
c.2990G>C (p.Arg997Thr)
c.2906G>C (p.Arg969Thr)
c.2834G>C (p.Arg945Thr)
c.2768G>C (p.Arg923Thr)
c.2129G>C (p.Arg710Thr)
c.2747G>C (p.Arg916Thr)
 gnomAD v4
9g.137813143G>TCA375793682EHMT1c.3005G>T (p.Arg1002Met)
c.2891G>T (p.Arg964Met)
c.2912G>T (p.Arg971Met)
c.3045G>T (n.3045G>T)
c.899G>T (p.Arg300Met)
c.1862G>T (p.Arg621Met)
c.692G>T
n.531G>T
c.2996G>T (p.Arg999Met)
c.2987G>T (p.Arg996Met)
c.3014G>T (p.Arg1005Met)
c.3011G>T (p.Arg1004Met)
c.2993G>T (p.Arg998Met)
c.2936G>T (p.Arg979Met)
c.2870G>T (p.Arg957Met)
c.1436G>T (p.Arg479Met)
c.788G>T (p.Arg263Met)
c.575G>T (p.Arg192Met)
c.2849G>T (p.Arg950Met)
c.2984G>T (p.Arg995Met)
c.2990G>T (p.Arg997Met)
c.2906G>T (p.Arg969Met)
c.2834G>T (p.Arg945Met)
c.2768G>T (p.Arg923Met)
c.2129G>T (p.Arg710Met)
c.2747G>T (p.Arg916Met)
 gnomAD v4
9g.137813144G>ACA468161096EHMT1c.3006G>A (p.Arg1002=)
c.2892G>A (p.Arg964=)
c.2913G>A (p.Arg971=)
c.3046G>A (n.3046G>A)
c.900G>A (p.Arg300=)
c.1863G>A (p.Arg621=)
c.693G>A
n.532G>A
c.2997G>A (p.Arg999=)
c.2988G>A (p.Arg996=)
c.3015G>A (p.Arg1005=)
c.3012G>A (p.Arg1004=)
c.2994G>A (p.Arg998=)
c.2937G>A (p.Arg979=)
c.2871G>A (p.Arg957=)
c.1437G>A (p.Arg479=)
c.789G>A (p.Arg263=)
c.576G>A (p.Arg192=)
c.2850G>A (p.Arg950=)
c.2985G>A (p.Arg995=)
c.2991G>A (p.Arg997=)
c.2907G>A (p.Arg969=)
c.2835G>A (p.Arg945=)
c.2769G>A (p.Arg923=)
c.2130G>A (p.Arg710=)
c.2748G>A (p.Arg916=)
9g.137813144G>CCA375793685EHMT1c.3006G>C (p.Arg1002Ser)
c.2892G>C (p.Arg964Ser)
c.2913G>C (p.Arg971Ser)
c.3046G>C (n.3046G>C)
c.900G>C (p.Arg300Ser)
c.1863G>C (p.Arg621Ser)
c.693G>C
n.532G>C
c.2997G>C (p.Arg999Ser)
c.2988G>C (p.Arg996Ser)
c.3015G>C (p.Arg1005Ser)
c.3012G>C (p.Arg1004Ser)
c.2994G>C (p.Arg998Ser)
c.2937G>C (p.Arg979Ser)
c.2871G>C (p.Arg957Ser)
c.1437G>C (p.Arg479Ser)
c.789G>C (p.Arg263Ser)
c.576G>C (p.Arg192Ser)
c.2850G>C (p.Arg950Ser)
c.2985G>C (p.Arg995Ser)
c.2991G>C (p.Arg997Ser)
c.2907G>C (p.Arg969Ser)
c.2835G>C (p.Arg945Ser)
c.2769G>C (p.Arg923Ser)
c.2130G>C (p.Arg710Ser)
c.2748G>C (p.Arg916Ser)
9g.137813144G>TCA375793686EHMT1c.3006G>T (p.Arg1002Ser)
c.2892G>T (p.Arg964Ser)
c.2913G>T (p.Arg971Ser)
c.3046G>T (n.3046G>T)
c.900G>T (p.Arg300Ser)
c.1863G>T (p.Arg621Ser)
c.693G>T
n.532G>T
c.2997G>T (p.Arg999Ser)
c.2988G>T (p.Arg996Ser)
c.3015G>T (p.Arg1005Ser)
c.3012G>T (p.Arg1004Ser)
c.2994G>T (p.Arg998Ser)
c.2937G>T (p.Arg979Ser)
c.2871G>T (p.Arg957Ser)
c.1437G>T (p.Arg479Ser)
c.789G>T (p.Arg263Ser)
c.576G>T (p.Arg192Ser)
c.2850G>T (p.Arg950Ser)
c.2985G>T (p.Arg995Ser)
c.2991G>T (p.Arg997Ser)
c.2907G>T (p.Arg969Ser)
c.2835G>T (p.Arg945Ser)
c.2769G>T (p.Arg923Ser)
c.2130G>T (p.Arg710Ser)
c.2748G>T (p.Arg916Ser)
 gnomAD v4 COSMIC COSMIC
9g.137813145C>ACA375793687EHMT1c.3007C>A (p.Pro1003Thr)
c.2893C>A (p.Pro965Thr)
c.2914C>A (p.Pro972Thr)
c.3047C>A (n.3047C>A)
c.901C>A (p.Pro301Thr)
c.1864C>A (p.Pro622Thr)
c.694C>A
n.533C>A
c.2998C>A (p.Pro1000Thr)
c.2989C>A (p.Pro997Thr)
c.3016C>A (p.Pro1006Thr)
c.3013C>A (p.Pro1005Thr)
c.2995C>A (p.Pro999Thr)
c.2938C>A (p.Pro980Thr)
c.2872C>A (p.Pro958Thr)
c.1438C>A (p.Pro480Thr)
c.790C>A (p.Pro264Thr)
c.577C>A (p.Pro193Thr)
c.2851C>A (p.Pro951Thr)
c.2986C>A (p.Pro996Thr)
c.2992C>A (p.Pro998Thr)
c.2908C>A (p.Pro970Thr)
c.2836C>A (p.Pro946Thr)
c.2770C>A (p.Pro924Thr)
c.2131C>A (p.Pro711Thr)
c.2749C>A (p.Pro917Thr)
9g.137813145C>GCA375793688EHMT1c.3007C>G (p.Pro1003Ala)
c.2893C>G (p.Pro965Ala)
c.2914C>G (p.Pro972Ala)
c.3047C>G (n.3047C>G)
c.901C>G (p.Pro301Ala)
c.1864C>G (p.Pro622Ala)
c.694C>G
n.533C>G
c.2998C>G (p.Pro1000Ala)
c.2989C>G (p.Pro997Ala)
c.3016C>G (p.Pro1006Ala)
c.3013C>G (p.Pro1005Ala)
c.2995C>G (p.Pro999Ala)
c.2938C>G (p.Pro980Ala)
c.2872C>G (p.Pro958Ala)
c.1438C>G (p.Pro480Ala)
c.790C>G (p.Pro264Ala)
c.577C>G (p.Pro193Ala)
c.2851C>G (p.Pro951Ala)
c.2986C>G (p.Pro996Ala)
c.2992C>G (p.Pro998Ala)
c.2908C>G (p.Pro970Ala)
c.2836C>G (p.Pro946Ala)
c.2770C>G (p.Pro924Ala)
c.2131C>G (p.Pro711Ala)
c.2749C>G (p.Pro917Ala)
9g.137813145C>TCA375793689EHMT1c.3007C>T (p.Pro1003Ser)
c.2893C>T (p.Pro965Ser)
c.2914C>T (p.Pro972Ser)
c.3047C>T (n.3047C>T)
c.901C>T (p.Pro301Ser)
c.1864C>T (p.Pro622Ser)
c.694C>T
n.533C>T
c.2998C>T (p.Pro1000Ser)
c.2989C>T (p.Pro997Ser)
c.3016C>T (p.Pro1006Ser)
c.3013C>T (p.Pro1005Ser)
c.2995C>T (p.Pro999Ser)
c.2938C>T (p.Pro980Ser)
c.2872C>T (p.Pro958Ser)
c.1438C>T (p.Pro480Ser)
c.790C>T (p.Pro264Ser)
c.577C>T (p.Pro193Ser)
c.2851C>T (p.Pro951Ser)
c.2986C>T (p.Pro996Ser)
c.2992C>T (p.Pro998Ser)
c.2908C>T (p.Pro970Ser)
c.2836C>T (p.Pro946Ser)
c.2770C>T (p.Pro924Ser)
c.2131C>T (p.Pro711Ser)
c.2749C>T (p.Pro917Ser)
 gnomAD v4
9g.137813148_137813153dupCA2692890677EHMT1c.3010_3015dup (p.Pro1005_Val1006insSerPro)
c.2896_2901dup (p.Pro967_Val968insSerPro)
c.2917_2922dup (p.Pro974_Val975insSerPro)
c.3050_3055dup (n.3050_3055dup)
c.904_909dup (p.Pro303_Val304insSerPro)
c.1867_1872dup (p.Pro624_Val625insSerPro)
c.697_702dup
n.536_541dup
c.3001_3006dup (p.Pro1002_Val1003insSerPro)
c.2992_2997dup (p.Pro999_Val1000insSerPro)
c.3019_3024dup (p.Pro1008_Val1009insSerPro)
c.3016_3021dup (p.Pro1007_Val1008insSerPro)
c.2998_3003dup (p.Pro1001_Val1002insSerPro)
c.2941_2946dup (p.Pro982_Val983insSerPro)
c.2875_2880dup (p.Pro960_Val961insSerPro)
c.1441_1446dup (p.Pro482_Val483insSerPro)
c.793_798dup (p.Pro266_Val267insSerPro)
c.580_585dup (p.Pro195_Val196insSerPro)
c.2854_2859dup (p.Pro953_Val954insSerPro)
c.2989_2994dup (p.Pro998_Val999insSerPro)
c.2995_3000dup (p.Pro1000_Val1001insSerPro)
c.2911_2916dup (p.Pro972_Val973insSerPro)
c.2839_2844dup (p.Pro948_Val949insSerPro)
c.2773_2778dup (p.Pro926_Val927insSerPro)
c.2134_2139dup (p.Pro713_Val714insSerPro)
c.2752_2757dup (p.Pro919_Val920insSerPro)
 gnomAD v4
9g.137813146C>ACA375793692EHMT1c.3008C>A (p.Pro1003His)
c.2894C>A (p.Pro965His)
c.2915C>A (p.Pro972His)
c.3048C>A (n.3048C>A)
c.902C>A (p.Pro301His)
c.1865C>A (p.Pro622His)
c.695C>A
n.534C>A
c.2999C>A (p.Pro1000His)
c.2990C>A (p.Pro997His)
c.3017C>A (p.Pro1006His)
c.3014C>A (p.Pro1005His)
c.2996C>A (p.Pro999His)
c.2939C>A (p.Pro980His)
c.2873C>A (p.Pro958His)
c.1439C>A (p.Pro480His)
c.791C>A (p.Pro264His)
c.578C>A (p.Pro193His)
c.2852C>A (p.Pro951His)
c.2987C>A (p.Pro996His)
c.2993C>A (p.Pro998His)
c.2909C>A (p.Pro970His)
c.2837C>A (p.Pro946His)
c.2771C>A (p.Pro924His)
c.2132C>A (p.Pro711His)
c.2750C>A (p.Pro917His)
9g.137813146C>GCA375793690EHMT1c.3008C>G (p.Pro1003Arg)
c.2894C>G (p.Pro965Arg)
c.2915C>G (p.Pro972Arg)
c.3048C>G (n.3048C>G)
c.902C>G (p.Pro301Arg)
c.1865C>G (p.Pro622Arg)
c.695C>G
n.534C>G
c.2999C>G (p.Pro1000Arg)
c.2990C>G (p.Pro997Arg)
c.3017C>G (p.Pro1006Arg)
c.3014C>G (p.Pro1005Arg)
c.2996C>G (p.Pro999Arg)
c.2939C>G (p.Pro980Arg)
c.2873C>G (p.Pro958Arg)
c.1439C>G (p.Pro480Arg)
c.791C>G (p.Pro264Arg)
c.578C>G (p.Pro193Arg)
c.2852C>G (p.Pro951Arg)
c.2987C>G (p.Pro996Arg)
c.2993C>G (p.Pro998Arg)
c.2909C>G (p.Pro970Arg)
c.2837C>G (p.Pro946Arg)
c.2771C>G (p.Pro924Arg)
c.2132C>G (p.Pro711Arg)
c.2750C>G (p.Pro917Arg)
9g.137813146C>TCA375793691EHMT1c.3008C>T (p.Pro1003Leu)
c.2894C>T (p.Pro965Leu)
c.2915C>T (p.Pro972Leu)
c.3048C>T (n.3048C>T)
c.902C>T (p.Pro301Leu)
c.1865C>T (p.Pro622Leu)
c.695C>T
n.534C>T
c.2999C>T (p.Pro1000Leu)
c.2990C>T (p.Pro997Leu)
c.3017C>T (p.Pro1006Leu)
c.3014C>T (p.Pro1005Leu)
c.2996C>T (p.Pro999Leu)
c.2939C>T (p.Pro980Leu)
c.2873C>T (p.Pro958Leu)
c.1439C>T (p.Pro480Leu)
c.791C>T (p.Pro264Leu)
c.578C>T (p.Pro193Leu)
c.2852C>T (p.Pro951Leu)
c.2987C>T (p.Pro996Leu)
c.2993C>T (p.Pro998Leu)
c.2909C>T (p.Pro970Leu)
c.2837C>T (p.Pro946Leu)
c.2771C>T (p.Pro924Leu)
c.2132C>T (p.Pro711Leu)
c.2750C>T (p.Pro917Leu)
9g.137813147C>ACA468161097EHMT1c.3009C>A (p.Pro1003=)
c.2895C>A (p.Pro965=)
c.2916C>A (p.Pro972=)
c.3049C>A (n.3049C>A)
c.903C>A (p.Pro301=)
c.1866C>A (p.Pro622=)
c.696C>A
n.535C>A
c.3000C>A (p.Pro1000=)
c.2991C>A (p.Pro997=)
c.3018C>A (p.Pro1006=)
c.3015C>A (p.Pro1005=)
c.2997C>A (p.Pro999=)
c.2940C>A (p.Pro980=)
c.2874C>A (p.Pro958=)
c.1440C>A (p.Pro480=)
c.792C>A (p.Pro264=)
c.579C>A (p.Pro193=)
c.2853C>A (p.Pro951=)
c.2988C>A (p.Pro996=)
c.2994C>A (p.Pro998=)
c.2910C>A (p.Pro970=)
c.2838C>A (p.Pro946=)
c.2772C>A (p.Pro924=)
c.2133C>A (p.Pro711=)
c.2751C>A (p.Pro917=)
9g.137813147C>GCA468161098EHMT1c.3009C>G (p.Pro1003=)
c.2895C>G (p.Pro965=)
c.2916C>G (p.Pro972=)
c.3049C>G (n.3049C>G)
c.903C>G (p.Pro301=)
c.1866C>G (p.Pro622=)
c.696C>G
n.535C>G
c.3000C>G (p.Pro1000=)
c.2991C>G (p.Pro997=)
c.3018C>G (p.Pro1006=)
c.3015C>G (p.Pro1005=)
c.2997C>G (p.Pro999=)
c.2940C>G (p.Pro980=)
c.2874C>G (p.Pro958=)
c.1440C>G (p.Pro480=)
c.792C>G (p.Pro264=)
c.579C>G (p.Pro193=)
c.2853C>G (p.Pro951=)
c.2988C>G (p.Pro996=)
c.2994C>G (p.Pro998=)
c.2910C>G (p.Pro970=)
c.2838C>G (p.Pro946=)
c.2772C>G (p.Pro924=)
c.2133C>G (p.Pro711=)
c.2751C>G (p.Pro917=)
9g.137813147C>TCA468161099EHMT1c.3009C>T (p.Pro1003=)
c.2895C>T (p.Pro965=)
c.2916C>T (p.Pro972=)
c.3049C>T (n.3049C>T)
c.903C>T (p.Pro301=)
c.1866C>T (p.Pro622=)
c.696C>T
n.535C>T
c.3000C>T (p.Pro1000=)
c.2991C>T (p.Pro997=)
c.3018C>T (p.Pro1006=)
c.3015C>T (p.Pro1005=)
c.2997C>T (p.Pro999=)
c.2940C>T (p.Pro980=)
c.2874C>T (p.Pro958=)
c.1440C>T (p.Pro480=)
c.792C>T (p.Pro264=)
c.579C>T (p.Pro193=)
c.2853C>T (p.Pro951=)
c.2988C>T (p.Pro996=)
c.2994C>T (p.Pro998=)
c.2910C>T (p.Pro970=)
c.2838C>T (p.Pro946=)
c.2772C>T (p.Pro924=)
c.2133C>T (p.Pro711=)
c.2751C>T (p.Pro917=)
9g.137813148A>CCA375793693EHMT1c.3010A>C (p.Ser1004Arg)
c.2896A>C (p.Ser966Arg)
c.2917A>C (p.Ser973Arg)
c.3050A>C (n.3050A>C)
c.904A>C (p.Ser302Arg)
c.1867A>C (p.Ser623Arg)
c.697A>C
n.536A>C
c.3001A>C (p.Ser1001Arg)
c.2992A>C (p.Ser998Arg)
c.3019A>C (p.Ser1007Arg)
c.3016A>C (p.Ser1006Arg)
c.2998A>C (p.Ser1000Arg)
c.2941A>C (p.Ser981Arg)
c.2875A>C (p.Ser959Arg)
c.1441A>C (p.Ser481Arg)
c.793A>C (p.Ser265Arg)
c.580A>C (p.Ser194Arg)
c.2854A>C (p.Ser952Arg)
c.2989A>C (p.Ser997Arg)
c.2995A>C (p.Ser999Arg)
c.2911A>C (p.Ser971Arg)
c.2839A>C (p.Ser947Arg)
c.2773A>C (p.Ser925Arg)
c.2134A>C (p.Ser712Arg)
c.2752A>C (p.Ser918Arg)
9g.137813148A>GCA375793694EHMT1c.3010A>G (p.Ser1004Gly)
c.2896A>G (p.Ser966Gly)
c.2917A>G (p.Ser973Gly)
c.3050A>G (n.3050A>G)
c.904A>G (p.Ser302Gly)
c.1867A>G (p.Ser623Gly)
c.697A>G
n.536A>G
c.3001A>G (p.Ser1001Gly)
c.2992A>G (p.Ser998Gly)
c.3019A>G (p.Ser1007Gly)
c.3016A>G (p.Ser1006Gly)
c.2998A>G (p.Ser1000Gly)
c.2941A>G (p.Ser981Gly)
c.2875A>G (p.Ser959Gly)
c.1441A>G (p.Ser481Gly)
c.793A>G (p.Ser265Gly)
c.580A>G (p.Ser194Gly)
c.2854A>G (p.Ser952Gly)
c.2989A>G (p.Ser997Gly)
c.2995A>G (p.Ser999Gly)
c.2911A>G (p.Ser971Gly)
c.2839A>G (p.Ser947Gly)
c.2773A>G (p.Ser925Gly)
c.2134A>G (p.Ser712Gly)
c.2752A>G (p.Ser918Gly)
9g.137813148A>TCA375793695EHMT1c.3010A>T (p.Ser1004Cys)
c.2896A>T (p.Ser966Cys)
c.2917A>T (p.Ser973Cys)
c.3050A>T (n.3050A>T)
c.904A>T (p.Ser302Cys)
c.1867A>T (p.Ser623Cys)
c.697A>T
n.536A>T
c.3001A>T (p.Ser1001Cys)
c.2992A>T (p.Ser998Cys)
c.3019A>T (p.Ser1007Cys)
c.3016A>T (p.Ser1006Cys)
c.2998A>T (p.Ser1000Cys)
c.2941A>T (p.Ser981Cys)
c.2875A>T (p.Ser959Cys)
c.1441A>T (p.Ser481Cys)
c.793A>T (p.Ser265Cys)
c.580A>T (p.Ser194Cys)
c.2854A>T (p.Ser952Cys)
c.2989A>T (p.Ser997Cys)
c.2995A>T (p.Ser999Cys)
c.2911A>T (p.Ser971Cys)
c.2839A>T (p.Ser947Cys)
c.2773A>T (p.Ser925Cys)
c.2134A>T (p.Ser712Cys)
c.2752A>T (p.Ser918Cys)
9g.137813149G>ACA201812EHMT1c.3011G>A (p.Ser1004Asn)
c.2897G>A (p.Ser966Asn)
c.2918G>A (p.Ser973Asn)
c.3051G>A (n.3051G>A)
c.905G>A (p.Ser302Asn)
c.1868G>A (p.Ser623Asn)
c.698G>A
n.537G>A
c.3002G>A (p.Ser1001Asn)
c.2993G>A (p.Ser998Asn)
c.3020G>A (p.Ser1007Asn)
c.3017G>A (p.Ser1006Asn)
c.2999G>A (p.Ser1000Asn)
c.2942G>A (p.Ser981Asn)
c.2876G>A (p.Ser959Asn)
c.1442G>A (p.Ser481Asn)
c.794G>A (p.Ser265Asn)
c.581G>A (p.Ser194Asn)
c.2855G>A (p.Ser952Asn)
c.2990G>A (p.Ser997Asn)
c.2996G>A (p.Ser999Asn)
c.2912G>A (p.Ser971Asn)
c.2840G>A (p.Ser947Asn)
c.2774G>A (p.Ser925Asn)
c.2135G>A (p.Ser712Asn)
c.2753G>A (p.Ser918Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813149G>CCA375793696EHMT1c.3011G>C (p.Ser1004Thr)
c.2897G>C (p.Ser966Thr)
c.2918G>C (p.Ser973Thr)
c.3051G>C (n.3051G>C)
c.905G>C (p.Ser302Thr)
c.1868G>C (p.Ser623Thr)
c.698G>C
n.537G>C
c.3002G>C (p.Ser1001Thr)
c.2993G>C (p.Ser998Thr)
c.3020G>C (p.Ser1007Thr)
c.3017G>C (p.Ser1006Thr)
c.2999G>C (p.Ser1000Thr)
c.2942G>C (p.Ser981Thr)
c.2876G>C (p.Ser959Thr)
c.1442G>C (p.Ser481Thr)
c.794G>C (p.Ser265Thr)
c.581G>C (p.Ser194Thr)
c.2855G>C (p.Ser952Thr)
c.2990G>C (p.Ser997Thr)
c.2996G>C (p.Ser999Thr)
c.2912G>C (p.Ser971Thr)
c.2840G>C (p.Ser947Thr)
c.2774G>C (p.Ser925Thr)
c.2135G>C (p.Ser712Thr)
c.2753G>C (p.Ser918Thr)
9g.137813149G=CA1884685728EHMT1c.3011G= (p.Ser1004=)
c.2897G= (p.Ser966=)
c.2918G= (p.Ser973=)
c.3051G= (n.3051G=)
c.905G= (p.Ser302=)
c.1868G= (p.Ser623=)
c.698G=
n.537G=
c.3002G= (p.Ser1001=)
c.2993G= (p.Ser998=)
c.3020G= (p.Ser1007=)
c.3017G= (p.Ser1006=)
c.2999G= (p.Ser1000=)
c.2942G= (p.Ser981=)
c.2876G= (p.Ser959=)
c.1442G= (p.Ser481=)
c.794G= (p.Ser265=)
c.581G= (p.Ser194=)
c.2855G= (p.Ser952=)
c.2990G= (p.Ser997=)
c.2996G= (p.Ser999=)
c.2912G= (p.Ser971=)
c.2840G= (p.Ser947=)
c.2774G= (p.Ser925=)
c.2135G= (p.Ser712=)
c.2753G= (p.Ser918=)
9g.137813149G>TCA5375125EHMT1c.3011G>T (p.Ser1004Ile)
c.2897G>T (p.Ser966Ile)
c.2918G>T (p.Ser973Ile)
c.3051G>T (n.3051G>T)
c.905G>T (p.Ser302Ile)
c.1868G>T (p.Ser623Ile)
c.698G>T
n.537G>T
c.3002G>T (p.Ser1001Ile)
c.2993G>T (p.Ser998Ile)
c.3020G>T (p.Ser1007Ile)
c.3017G>T (p.Ser1006Ile)
c.2999G>T (p.Ser1000Ile)
c.2942G>T (p.Ser981Ile)
c.2876G>T (p.Ser959Ile)
c.1442G>T (p.Ser481Ile)
c.794G>T (p.Ser265Ile)
c.581G>T (p.Ser194Ile)
c.2855G>T (p.Ser952Ile)
c.2990G>T (p.Ser997Ile)
c.2996G>T (p.Ser999Ile)
c.2912G>T (p.Ser971Ile)
c.2840G>T (p.Ser947Ile)
c.2774G>T (p.Ser925Ile)
c.2135G>T (p.Ser712Ile)
c.2753G>T (p.Ser918Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813150_137813154delCA2499219815EHMT1c.3012_3016del (p.Pro1005GlyfsTer?)
c.2898_2902del (p.Pro967GlyfsTer?)
c.2919_2923del (p.Pro974GlyfsTer?)
c.3052_3056del (n.3052_3056del)
c.906_910del (p.Pro303GlyfsTer?)
c.1869_1873del (p.Pro624GlyfsTer?)
c.699_703del
n.538_542del
c.3003_3007del (p.Pro1002GlyfsTer?)
c.2994_2998del (p.Pro999GlyfsTer?)
c.3021_3025del (p.Pro1008GlyfsTer?)
c.3018_3022del (p.Pro1007GlyfsTer?)
c.3000_3004del (p.Pro1001GlyfsTer?)
c.2943_2947del (p.Pro982GlyfsTer?)
c.2877_2881del (p.Pro960GlyfsTer?)
c.1443_1447del (p.Pro482GlyfsTer?)
c.795_799del (p.Pro266GlyfsTer?)
c.582_586del (p.Pro195GlyfsTer?)
c.2856_2860del (p.Pro953GlyfsTer?)
c.2991_2995del (p.Pro998GlyfsTer?)
c.2997_3001del (p.Pro1000GlyfsTer?)
c.2913_2917del (p.Pro972GlyfsTer?)
c.2841_2845del (p.Pro948GlyfsTer?)
c.2775_2779del (p.Pro926GlyfsTer?)
c.2136_2140del (p.Pro713GlyfsTer?)
c.2754_2758del (p.Pro919GlyfsTer?)
 ClinVar dbSNP
9g.137813150C>ACA375793697EHMT1c.3012C>A (p.Ser1004Arg)
c.2898C>A (p.Ser966Arg)
c.2919C>A (p.Ser973Arg)
c.3052C>A (n.3052C>A)
c.906C>A (p.Ser302Arg)
c.1869C>A (p.Ser623Arg)
c.699C>A
n.538C>A
c.3003C>A (p.Ser1001Arg)
c.2994C>A (p.Ser998Arg)
c.3021C>A (p.Ser1007Arg)
c.3018C>A (p.Ser1006Arg)
c.3000C>A (p.Ser1000Arg)
c.2943C>A (p.Ser981Arg)
c.2877C>A (p.Ser959Arg)
c.1443C>A (p.Ser481Arg)
c.795C>A (p.Ser265Arg)
c.582C>A (p.Ser194Arg)
c.2856C>A (p.Ser952Arg)
c.2991C>A (p.Ser997Arg)
c.2997C>A (p.Ser999Arg)
c.2913C>A (p.Ser971Arg)
c.2841C>A (p.Ser947Arg)
c.2775C>A (p.Ser925Arg)
c.2136C>A (p.Ser712Arg)
c.2754C>A (p.Ser918Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.137813150C=CA1884685729EHMT1c.3012C= (p.Ser1004=)
c.2898C= (p.Ser966=)
c.2919C= (p.Ser973=)
c.3052C= (n.3052C=)
c.906C= (p.Ser302=)
c.1869C= (p.Ser623=)
c.699C=
n.538C=
c.3003C= (p.Ser1001=)
c.2994C= (p.Ser998=)
c.3021C= (p.Ser1007=)
c.3018C= (p.Ser1006=)
c.3000C= (p.Ser1000=)
c.2943C= (p.Ser981=)
c.2877C= (p.Ser959=)
c.1443C= (p.Ser481=)
c.795C= (p.Ser265=)
c.582C= (p.Ser194=)
c.2856C= (p.Ser952=)
c.2991C= (p.Ser997=)
c.2997C= (p.Ser999=)
c.2913C= (p.Ser971=)
c.2841C= (p.Ser947=)
c.2775C= (p.Ser925=)
c.2136C= (p.Ser712=)
c.2754C= (p.Ser918=)
9g.137813150C>GCA375793698EHMT1c.3012C>G (p.Ser1004Arg)
c.2898C>G (p.Ser966Arg)
c.2919C>G (p.Ser973Arg)
c.3052C>G (n.3052C>G)
c.906C>G (p.Ser302Arg)
c.1869C>G (p.Ser623Arg)
c.699C>G
n.538C>G
c.3003C>G (p.Ser1001Arg)
c.2994C>G (p.Ser998Arg)
c.3021C>G (p.Ser1007Arg)
c.3018C>G (p.Ser1006Arg)
c.3000C>G (p.Ser1000Arg)
c.2943C>G (p.Ser981Arg)
c.2877C>G (p.Ser959Arg)
c.1443C>G (p.Ser481Arg)
c.795C>G (p.Ser265Arg)
c.582C>G (p.Ser194Arg)
c.2856C>G (p.Ser952Arg)
c.2991C>G (p.Ser997Arg)
c.2997C>G (p.Ser999Arg)
c.2913C>G (p.Ser971Arg)
c.2841C>G (p.Ser947Arg)
c.2775C>G (p.Ser925Arg)
c.2136C>G (p.Ser712Arg)
c.2754C>G (p.Ser918Arg)
9g.137813150C>TCA468161100EHMT1c.3012C>T (p.Ser1004=)
c.2898C>T (p.Ser966=)
c.2919C>T (p.Ser973=)
c.3052C>T (n.3052C>T)
c.906C>T (p.Ser302=)
c.1869C>T (p.Ser623=)
c.699C>T
n.538C>T
c.3003C>T (p.Ser1001=)
c.2994C>T (p.Ser998=)
c.3021C>T (p.Ser1007=)
c.3018C>T (p.Ser1006=)
c.3000C>T (p.Ser1000=)
c.2943C>T (p.Ser981=)
c.2877C>T (p.Ser959=)
c.1443C>T (p.Ser481=)
c.795C>T (p.Ser265=)
c.582C>T (p.Ser194=)
c.2856C>T (p.Ser952=)
c.2991C>T (p.Ser997=)
c.2997C>T (p.Ser999=)
c.2913C>T (p.Ser971=)
c.2841C>T (p.Ser947=)
c.2775C>T (p.Ser925=)
c.2136C>T (p.Ser712=)
c.2754C>T (p.Ser918=)
9g.137813151C>ACA375793699EHMT1c.3013C>A (p.Pro1005Thr)
c.2899C>A (p.Pro967Thr)
c.2920C>A (p.Pro974Thr)
c.3053C>A (n.3053C>A)
c.907C>A (p.Pro303Thr)
c.1870C>A (p.Pro624Thr)
c.700C>A
n.539C>A
c.3004C>A (p.Pro1002Thr)
c.2995C>A (p.Pro999Thr)
c.3022C>A (p.Pro1008Thr)
c.3019C>A (p.Pro1007Thr)
c.3001C>A (p.Pro1001Thr)
c.2944C>A (p.Pro982Thr)
c.2878C>A (p.Pro960Thr)
c.1444C>A (p.Pro482Thr)
c.796C>A (p.Pro266Thr)
c.583C>A (p.Pro195Thr)
c.2857C>A (p.Pro953Thr)
c.2992C>A (p.Pro998Thr)
c.2998C>A (p.Pro1000Thr)
c.2914C>A (p.Pro972Thr)
c.2842C>A (p.Pro948Thr)
c.2776C>A (p.Pro926Thr)
c.2137C>A (p.Pro713Thr)
c.2755C>A (p.Pro919Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.137813151C=CA1884685730EHMT1c.3013C= (p.Pro1005=)
c.2899C= (p.Pro967=)
c.2920C= (p.Pro974=)
c.3053C= (n.3053C=)
c.907C= (p.Pro303=)
c.1870C= (p.Pro624=)
c.700C=
n.539C=
c.3004C= (p.Pro1002=)
c.2995C= (p.Pro999=)
c.3022C= (p.Pro1008=)
c.3019C= (p.Pro1007=)
c.3001C= (p.Pro1001=)
c.2944C= (p.Pro982=)
c.2878C= (p.Pro960=)
c.1444C= (p.Pro482=)
c.796C= (p.Pro266=)
c.583C= (p.Pro195=)
c.2857C= (p.Pro953=)
c.2992C= (p.Pro998=)
c.2998C= (p.Pro1000=)
c.2914C= (p.Pro972=)
c.2842C= (p.Pro948=)
c.2776C= (p.Pro926=)
c.2137C= (p.Pro713=)
c.2755C= (p.Pro919=)
9g.137813151C>GCA375793701EHMT1c.3013C>G (p.Pro1005Ala)
c.2899C>G (p.Pro967Ala)
c.2920C>G (p.Pro974Ala)
c.3053C>G (n.3053C>G)
c.907C>G (p.Pro303Ala)
c.1870C>G (p.Pro624Ala)
c.700C>G
n.539C>G
c.3004C>G (p.Pro1002Ala)
c.2995C>G (p.Pro999Ala)
c.3022C>G (p.Pro1008Ala)
c.3019C>G (p.Pro1007Ala)
c.3001C>G (p.Pro1001Ala)
c.2944C>G (p.Pro982Ala)
c.2878C>G (p.Pro960Ala)
c.1444C>G (p.Pro482Ala)
c.796C>G (p.Pro266Ala)
c.583C>G (p.Pro195Ala)
c.2857C>G (p.Pro953Ala)
c.2992C>G (p.Pro998Ala)
c.2998C>G (p.Pro1000Ala)
c.2914C>G (p.Pro972Ala)
c.2842C>G (p.Pro948Ala)
c.2776C>G (p.Pro926Ala)
c.2137C>G (p.Pro713Ala)
c.2755C>G (p.Pro919Ala)
9g.137813151C>TCA375793700EHMT1c.3013C>T (p.Pro1005Ser)
c.2899C>T (p.Pro967Ser)
c.2920C>T (p.Pro974Ser)
c.3053C>T (n.3053C>T)
c.907C>T (p.Pro303Ser)
c.1870C>T (p.Pro624Ser)
c.700C>T
n.539C>T
c.3004C>T (p.Pro1002Ser)
c.2995C>T (p.Pro999Ser)
c.3022C>T (p.Pro1008Ser)
c.3019C>T (p.Pro1007Ser)
c.3001C>T (p.Pro1001Ser)
c.2944C>T (p.Pro982Ser)
c.2878C>T (p.Pro960Ser)
c.1444C>T (p.Pro482Ser)
c.796C>T (p.Pro266Ser)
c.583C>T (p.Pro195Ser)
c.2857C>T (p.Pro953Ser)
c.2992C>T (p.Pro998Ser)
c.2998C>T (p.Pro1000Ser)
c.2914C>T (p.Pro972Ser)
c.2842C>T (p.Pro948Ser)
c.2776C>T (p.Pro926Ser)
c.2137C>T (p.Pro713Ser)
c.2755C>T (p.Pro919Ser)
9g.137813152C>ACA375793702EHMT1c.3014C>A (p.Pro1005His)
c.2900C>A (p.Pro967His)
c.2921C>A (p.Pro974His)
c.3054C>A (n.3054C>A)
c.908C>A (p.Pro303His)
c.1871C>A (p.Pro624His)
c.701C>A
n.540C>A
c.3005C>A (p.Pro1002His)
c.2996C>A (p.Pro999His)
c.3023C>A (p.Pro1008His)
c.3020C>A (p.Pro1007His)
c.3002C>A (p.Pro1001His)
c.2945C>A (p.Pro982His)
c.2879C>A (p.Pro960His)
c.1445C>A (p.Pro482His)
c.797C>A (p.Pro266His)
c.584C>A (p.Pro195His)
c.2858C>A (p.Pro953His)
c.2993C>A (p.Pro998His)
c.2999C>A (p.Pro1000His)
c.2915C>A (p.Pro972His)
c.2843C>A (p.Pro948His)
c.2777C>A (p.Pro926His)
c.2138C>A (p.Pro713His)
c.2756C>A (p.Pro919His)
9g.137813152C=CA1884685731EHMT1c.3014C= (p.Pro1005=)
c.2900C= (p.Pro967=)
c.2921C= (p.Pro974=)
c.3054C= (n.3054C=)
c.908C= (p.Pro303=)
c.1871C= (p.Pro624=)
c.701C=
n.540C=
c.3005C= (p.Pro1002=)
c.2996C= (p.Pro999=)
c.3023C= (p.Pro1008=)
c.3020C= (p.Pro1007=)
c.3002C= (p.Pro1001=)
c.2945C= (p.Pro982=)
c.2879C= (p.Pro960=)
c.1445C= (p.Pro482=)
c.797C= (p.Pro266=)
c.584C= (p.Pro195=)
c.2858C= (p.Pro953=)
c.2993C= (p.Pro998=)
c.2999C= (p.Pro1000=)
c.2915C= (p.Pro972=)
c.2843C= (p.Pro948=)
c.2777C= (p.Pro926=)
c.2138C= (p.Pro713=)
c.2756C= (p.Pro919=)
9g.137813152C>GCA375793703EHMT1c.3014C>G (p.Pro1005Arg)
c.2900C>G (p.Pro967Arg)
c.2921C>G (p.Pro974Arg)
c.3054C>G (n.3054C>G)
c.908C>G (p.Pro303Arg)
c.1871C>G (p.Pro624Arg)
c.701C>G
n.540C>G
c.3005C>G (p.Pro1002Arg)
c.2996C>G (p.Pro999Arg)
c.3023C>G (p.Pro1008Arg)
c.3020C>G (p.Pro1007Arg)
c.3002C>G (p.Pro1001Arg)
c.2945C>G (p.Pro982Arg)
c.2879C>G (p.Pro960Arg)
c.1445C>G (p.Pro482Arg)
c.797C>G (p.Pro266Arg)
c.584C>G (p.Pro195Arg)
c.2858C>G (p.Pro953Arg)
c.2993C>G (p.Pro998Arg)
c.2999C>G (p.Pro1000Arg)
c.2915C>G (p.Pro972Arg)
c.2843C>G (p.Pro948Arg)
c.2777C>G (p.Pro926Arg)
c.2138C>G (p.Pro713Arg)
c.2756C>G (p.Pro919Arg)
9g.137813152C>TCA375793704EHMT1c.3014C>T (p.Pro1005Leu)
c.2900C>T (p.Pro967Leu)
c.2921C>T (p.Pro974Leu)
c.3054C>T (n.3054C>T)
c.908C>T (p.Pro303Leu)
c.1871C>T (p.Pro624Leu)
c.701C>T
n.540C>T
c.3005C>T (p.Pro1002Leu)
c.2996C>T (p.Pro999Leu)
c.3023C>T (p.Pro1008Leu)
c.3020C>T (p.Pro1007Leu)
c.3002C>T (p.Pro1001Leu)
c.2945C>T (p.Pro982Leu)
c.2879C>T (p.Pro960Leu)
c.1445C>T (p.Pro482Leu)
c.797C>T (p.Pro266Leu)
c.584C>T (p.Pro195Leu)
c.2858C>T (p.Pro953Leu)
c.2993C>T (p.Pro998Leu)
c.2999C>T (p.Pro1000Leu)
c.2915C>T (p.Pro972Leu)
c.2843C>T (p.Pro948Leu)
c.2777C>T (p.Pro926Leu)
c.2138C>T (p.Pro713Leu)
c.2756C>T (p.Pro919Leu)
 dbSNP COSMIC COSMIC
9g.137813153C>ACA468161101EHMT1c.3015C>A (p.Pro1005=)
c.2901C>A (p.Pro967=)
c.2922C>A (p.Pro974=)
c.3055C>A (n.3055C>A)
c.909C>A (p.Pro303=)
c.1872C>A (p.Pro624=)
c.702C>A
n.541C>A
c.3006C>A (p.Pro1002=)
c.2997C>A (p.Pro999=)
c.3024C>A (p.Pro1008=)
c.3021C>A (p.Pro1007=)
c.3003C>A (p.Pro1001=)
c.2946C>A (p.Pro982=)
c.2880C>A (p.Pro960=)
c.1446C>A (p.Pro482=)
c.798C>A (p.Pro266=)
c.585C>A (p.Pro195=)
c.2859C>A (p.Pro953=)
c.2994C>A (p.Pro998=)
c.3000C>A (p.Pro1000=)
c.2916C>A (p.Pro972=)
c.2844C>A (p.Pro948=)
c.2778C>A (p.Pro926=)
c.2139C>A (p.Pro713=)
c.2757C>A (p.Pro919=)
9g.137813153C=CA1884685732EHMT1c.3015C= (p.Pro1005=)
c.2901C= (p.Pro967=)
c.2922C= (p.Pro974=)
c.3055C= (n.3055C=)
c.909C= (p.Pro303=)
c.1872C= (p.Pro624=)
c.702C=
n.541C=
c.3006C= (p.Pro1002=)
c.2997C= (p.Pro999=)
c.3024C= (p.Pro1008=)
c.3021C= (p.Pro1007=)
c.3003C= (p.Pro1001=)
c.2946C= (p.Pro982=)
c.2880C= (p.Pro960=)
c.1446C= (p.Pro482=)
c.798C= (p.Pro266=)
c.585C= (p.Pro195=)
c.2859C= (p.Pro953=)
c.2994C= (p.Pro998=)
c.3000C= (p.Pro1000=)
c.2916C= (p.Pro972=)
c.2844C= (p.Pro948=)
c.2778C= (p.Pro926=)
c.2139C= (p.Pro713=)
c.2757C= (p.Pro919=)
9g.137813153C>GCA5375126EHMT1c.3015C>G (p.Pro1005=)
c.2901C>G (p.Pro967=)
c.2922C>G (p.Pro974=)
c.3055C>G (n.3055C>G)
c.909C>G (p.Pro303=)
c.1872C>G (p.Pro624=)
c.702C>G
n.541C>G
c.3006C>G (p.Pro1002=)
c.2997C>G (p.Pro999=)
c.3024C>G (p.Pro1008=)
c.3021C>G (p.Pro1007=)
c.3003C>G (p.Pro1001=)
c.2946C>G (p.Pro982=)
c.2880C>G (p.Pro960=)
c.1446C>G (p.Pro482=)
c.798C>G (p.Pro266=)
c.585C>G (p.Pro195=)
c.2859C>G (p.Pro953=)
c.2994C>G (p.Pro998=)
c.3000C>G (p.Pro1000=)
c.2916C>G (p.Pro972=)
c.2844C>G (p.Pro948=)
c.2778C>G (p.Pro926=)
c.2139C>G (p.Pro713=)
c.2757C>G (p.Pro919=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813153C>TCA241985EHMT1c.3015C>T (p.Pro1005=)
c.2901C>T (p.Pro967=)
c.2922C>T (p.Pro974=)
c.3055C>T (n.3055C>T)
c.909C>T (p.Pro303=)
c.1872C>T (p.Pro624=)
c.702C>T
n.541C>T
c.3006C>T (p.Pro1002=)
c.2997C>T (p.Pro999=)
c.3024C>T (p.Pro1008=)
c.3021C>T (p.Pro1007=)
c.3003C>T (p.Pro1001=)
c.2946C>T (p.Pro982=)
c.2880C>T (p.Pro960=)
c.1446C>T (p.Pro482=)
c.798C>T (p.Pro266=)
c.585C>T (p.Pro195=)
c.2859C>T (p.Pro953=)
c.2994C>T (p.Pro998=)
c.3000C>T (p.Pro1000=)
c.2916C>T (p.Pro972=)
c.2844C>T (p.Pro948=)
c.2778C>T (p.Pro926=)
c.2139C>T (p.Pro713=)
c.2757C>T (p.Pro919=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813154G>ACA149297EHMT1c.3016G>A (p.Val1006Met)
c.2902G>A (p.Val968Met)
c.2923G>A (p.Val975Met)
c.3056G>A (n.3056G>A)
c.910G>A (p.Val304Met)
c.1873G>A (p.Val625Met)
c.703G>A
n.542G>A
c.3007G>A (p.Val1003Met)
c.2998G>A (p.Val1000Met)
c.3025G>A (p.Val1009Met)
c.3022G>A (p.Val1008Met)
c.3004G>A (p.Val1002Met)
c.2947G>A (p.Val983Met)
c.2881G>A (p.Val961Met)
c.1447G>A (p.Val483Met)
c.799G>A (p.Val267Met)
c.586G>A (p.Val196Met)
c.2860G>A (p.Val954Met)
c.2995G>A (p.Val999Met)
c.3001G>A (p.Val1001Met)
c.2917G>A (p.Val973Met)
c.2845G>A (p.Val949Met)
c.2779G>A (p.Val927Met)
c.2140G>A (p.Val714Met)
c.2758G>A (p.Val920Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.137813154G>CCA5375127EHMT1c.3016G>C (p.Val1006Leu)
c.2902G>C (p.Val968Leu)
c.2923G>C (p.Val975Leu)
c.3056G>C (n.3056G>C)
c.910G>C (p.Val304Leu)
c.1873G>C (p.Val625Leu)
c.703G>C
n.542G>C
c.3007G>C (p.Val1003Leu)
c.2998G>C (p.Val1000Leu)
c.3025G>C (p.Val1009Leu)
c.3022G>C (p.Val1008Leu)
c.3004G>C (p.Val1002Leu)
c.2947G>C (p.Val983Leu)
c.2881G>C (p.Val961Leu)
c.1447G>C (p.Val483Leu)
c.799G>C (p.Val267Leu)
c.586G>C (p.Val196Leu)
c.2860G>C (p.Val954Leu)
c.2995G>C (p.Val999Leu)
c.3001G>C (p.Val1001Leu)
c.2917G>C (p.Val973Leu)
c.2845G>C (p.Val949Leu)
c.2779G>C (p.Val927Leu)
c.2140G>C (p.Val714Leu)
c.2758G>C (p.Val920Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.137813154G=CA1884685733EHMT1c.3016G= (p.Val1006=)
c.2902G= (p.Val968=)
c.2923G= (p.Val975=)
c.3056G= (n.3056G=)
c.910G= (p.Val304=)
c.1873G= (p.Val625=)
c.703G=
n.542G=
c.3007G= (p.Val1003=)
c.2998G= (p.Val1000=)
c.3025G= (p.Val1009=)
c.3022G= (p.Val1008=)
c.3004G= (p.Val1002=)
c.2947G= (p.Val983=)
c.2881G= (p.Val961=)
c.1447G= (p.Val483=)
c.799G= (p.Val267=)
c.586G= (p.Val196=)
c.2860G= (p.Val954=)
c.2995G= (p.Val999=)
c.3001G= (p.Val1001=)
c.2917G= (p.Val973=)
c.2845G= (p.Val949=)
c.2779G= (p.Val927=)
c.2140G= (p.Val714=)
c.2758G= (p.Val920=)
9g.137813154G>TCA375793705EHMT1c.3016G>T (p.Val1006Leu)
c.2902G>T (p.Val968Leu)
c.2923G>T (p.Val975Leu)
c.3056G>T (n.3056G>T)
c.910G>T (p.Val304Leu)
c.1873G>T (p.Val625Leu)
c.703G>T
n.542G>T
c.3007G>T (p.Val1003Leu)
c.2998G>T (p.Val1000Leu)
c.3025G>T (p.Val1009Leu)
c.3022G>T (p.Val1008Leu)
c.3004G>T (p.Val1002Leu)
c.2947G>T (p.Val983Leu)
c.2881G>T (p.Val961Leu)
c.1447G>T (p.Val483Leu)
c.799G>T (p.Val267Leu)
c.586G>T (p.Val196Leu)
c.2860G>T (p.Val954Leu)
c.2995G>T (p.Val999Leu)
c.3001G>T (p.Val1001Leu)
c.2917G>T (p.Val973Leu)
c.2845G>T (p.Val949Leu)
c.2779G>T (p.Val927Leu)
c.2140G>T (p.Val714Leu)
c.2758G>T (p.Val920Leu)
 ClinVar dbSNP gnomAD v4
9g.137813155T>ACA375793706EHMT1c.3017T>A (p.Val1006Glu)
c.2903T>A (p.Val968Glu)
c.2924T>A (p.Val975Glu)
c.3057T>A (n.3057T>A)
c.911T>A (p.Val304Glu)
c.1874T>A (p.Val625Glu)
c.704T>A
n.543T>A
c.3008T>A (p.Val1003Glu)
c.2999T>A (p.Val1000Glu)
c.3026T>A (p.Val1009Glu)
c.3023T>A (p.Val1008Glu)
c.3005T>A (p.Val1002Glu)
c.2948T>A (p.Val983Glu)
c.2882T>A (p.Val961Glu)
c.1448T>A (p.Val483Glu)
c.800T>A (p.Val267Glu)
c.587T>A (p.Val196Glu)
c.2861T>A (p.Val954Glu)
c.2996T>A (p.Val999Glu)
c.3002T>A (p.Val1001Glu)
c.2918T>A (p.Val973Glu)
c.2846T>A (p.Val949Glu)
c.2780T>A (p.Val927Glu)
c.2141T>A (p.Val714Glu)
c.2759T>A (p.Val920Glu)
9g.137813155T>CCA375793707EHMT1c.3017T>C (p.Val1006Ala)
c.2903T>C (p.Val968Ala)
c.2924T>C (p.Val975Ala)
c.3057T>C (n.3057T>C)
c.911T>C (p.Val304Ala)
c.1874T>C (p.Val625Ala)
c.704T>C
n.543T>C
c.3008T>C (p.Val1003Ala)
c.2999T>C (p.Val1000Ala)
c.3026T>C (p.Val1009Ala)
c.3023T>C (p.Val1008Ala)
c.3005T>C (p.Val1002Ala)
c.2948T>C (p.Val983Ala)
c.2882T>C (p.Val961Ala)
c.1448T>C (p.Val483Ala)
c.800T>C (p.Val267Ala)
c.587T>C (p.Val196Ala)
c.2861T>C (p.Val954Ala)
c.2996T>C (p.Val999Ala)
c.3002T>C (p.Val1001Ala)
c.2918T>C (p.Val973Ala)
c.2846T>C (p.Val949Ala)
c.2780T>C (p.Val927Ala)
c.2141T>C (p.Val714Ala)
c.2759T>C (p.Val920Ala)
9g.137813155T>GCA375793708EHMT1c.3017T>G (p.Val1006Gly)
c.2903T>G (p.Val968Gly)
c.2924T>G (p.Val975Gly)
c.3057T>G (n.3057T>G)
c.911T>G (p.Val304Gly)
c.1874T>G (p.Val625Gly)
c.704T>G
n.543T>G
c.3008T>G (p.Val1003Gly)
c.2999T>G (p.Val1000Gly)
c.3026T>G (p.Val1009Gly)
c.3023T>G (p.Val1008Gly)
c.3005T>G (p.Val1002Gly)
c.2948T>G (p.Val983Gly)
c.2882T>G (p.Val961Gly)
c.1448T>G (p.Val483Gly)
c.800T>G (p.Val267Gly)
c.587T>G (p.Val196Gly)
c.2861T>G (p.Val954Gly)
c.2996T>G (p.Val999Gly)
c.3002T>G (p.Val1001Gly)
c.2918T>G (p.Val973Gly)
c.2846T>G (p.Val949Gly)
c.2780T>G (p.Val927Gly)
c.2141T>G (p.Val714Gly)
c.2759T>G (p.Val920Gly)
9g.137813156G>ACA468161102EHMT1c.3018G>A (p.Val1006=)
c.2904G>A (p.Val968=)
c.2925G>A (p.Val975=)
c.3058G>A (n.3058G>A)
c.912G>A (p.Val304=)
c.1875G>A (p.Val625=)
c.705G>A
n.544G>A
c.3009G>A (p.Val1003=)
c.3000G>A (p.Val1000=)
c.3027G>A (p.Val1009=)
c.3024G>A (p.Val1008=)
c.3006G>A (p.Val1002=)
c.2949G>A (p.Val983=)
c.2883G>A (p.Val961=)
c.1449G>A (p.Val483=)
c.801G>A (p.Val267=)
c.588G>A (p.Val196=)
c.2862G>A (p.Val954=)
c.2997G>A (p.Val999=)
c.3003G>A (p.Val1001=)
c.2919G>A (p.Val973=)
c.2847G>A (p.Val949=)
c.2781G>A (p.Val927=)
c.2142G>A (p.Val714=)
c.2760G>A (p.Val920=)
9g.137813156G>CCA468161103EHMT1c.3018G>C (p.Val1006=)
c.2904G>C (p.Val968=)
c.2925G>C (p.Val975=)
c.3058G>C (n.3058G>C)
c.912G>C (p.Val304=)
c.1875G>C (p.Val625=)
c.705G>C
n.544G>C
c.3009G>C (p.Val1003=)
c.3000G>C (p.Val1000=)
c.3027G>C (p.Val1009=)
c.3024G>C (p.Val1008=)
c.3006G>C (p.Val1002=)
c.2949G>C (p.Val983=)
c.2883G>C (p.Val961=)
c.1449G>C (p.Val483=)
c.801G>C (p.Val267=)
c.588G>C (p.Val196=)
c.2862G>C (p.Val954=)
c.2997G>C (p.Val999=)
c.3003G>C (p.Val1001=)
c.2919G>C (p.Val973=)
c.2847G>C (p.Val949=)
c.2781G>C (p.Val927=)
c.2142G>C (p.Val714=)
c.2760G>C (p.Val920=)
9g.137813156G>TCA468161104EHMT1c.3018G>T (p.Val1006=)
c.2904G>T (p.Val968=)
c.2925G>T (p.Val975=)
c.3058G>T (n.3058G>T)
c.912G>T (p.Val304=)
c.1875G>T (p.Val625=)
c.705G>T
n.544G>T
c.3009G>T (p.Val1003=)
c.3000G>T (p.Val1000=)
c.3027G>T (p.Val1009=)
c.3024G>T (p.Val1008=)
c.3006G>T (p.Val1002=)
c.2949G>T (p.Val983=)
c.2883G>T (p.Val961=)
c.1449G>T (p.Val483=)
c.801G>T (p.Val267=)
c.588G>T (p.Val196=)
c.2862G>T (p.Val954=)
c.2997G>T (p.Val999=)
c.3003G>T (p.Val1001=)
c.2919G>T (p.Val973=)
c.2847G>T (p.Val949=)
c.2781G>T (p.Val927=)
c.2142G>T (p.Val714=)
c.2760G>T (p.Val920=)
9g.137813157G>ACA375793711EHMT1c.3019G>A (p.Glu1007Lys)
c.2905G>A (p.Glu969Lys)
c.2926G>A (p.Glu976Lys)
c.3059G>A (n.3059G>A)
c.913G>A (p.Glu305Lys)
c.1876G>A (p.Glu626Lys)
c.706G>A
n.545G>A
c.3010G>A (p.Glu1004Lys)
c.3001G>A (p.Glu1001Lys)
c.3028G>A (p.Glu1010Lys)
c.3025G>A (p.Glu1009Lys)
c.3007G>A (p.Glu1003Lys)
c.2950G>A (p.Glu984Lys)
c.2884G>A (p.Glu962Lys)
c.1450G>A (p.Glu484Lys)
c.802G>A (p.Glu268Lys)
c.589G>A (p.Glu197Lys)
c.2863G>A (p.Glu955Lys)
c.2998G>A (p.Glu1000Lys)
c.3004G>A (p.Glu1002Lys)
c.2920G>A (p.Glu974Lys)
c.2848G>A (p.Glu950Lys)
c.2782G>A (p.Glu928Lys)
c.2143G>A (p.Glu715Lys)
c.2761G>A (p.Glu921Lys)
9g.137813157G>CCA375793709EHMT1c.3019G>C (p.Glu1007Gln)
c.2905G>C (p.Glu969Gln)
c.2926G>C (p.Glu976Gln)
c.3059G>C (n.3059G>C)
c.913G>C (p.Glu305Gln)
c.1876G>C (p.Glu626Gln)
c.706G>C
n.545G>C
c.3010G>C (p.Glu1004Gln)
c.3001G>C (p.Glu1001Gln)
c.3028G>C (p.Glu1010Gln)
c.3025G>C (p.Glu1009Gln)
c.3007G>C (p.Glu1003Gln)
c.2950G>C (p.Glu984Gln)
c.2884G>C (p.Glu962Gln)
c.1450G>C (p.Glu484Gln)
c.802G>C (p.Glu268Gln)
c.589G>C (p.Glu197Gln)
c.2863G>C (p.Glu955Gln)
c.2998G>C (p.Glu1000Gln)
c.3004G>C (p.Glu1002Gln)
c.2920G>C (p.Glu974Gln)
c.2848G>C (p.Glu950Gln)
c.2782G>C (p.Glu928Gln)
c.2143G>C (p.Glu715Gln)
c.2761G>C (p.Glu921Gln)
9g.137813157G>TCA375793710EHMT1c.3019G>T (p.Glu1007Ter)
c.2905G>T (p.Glu969Ter)
c.2926G>T (p.Glu976Ter)
c.3059G>T (n.3059G>T)
c.913G>T (p.Glu305Ter)
c.1876G>T (p.Glu626Ter)
c.706G>T
n.545G>T
c.3010G>T (p.Glu1004Ter)
c.3001G>T (p.Glu1001Ter)
c.3028G>T (p.Glu1010Ter)
c.3025G>T (p.Glu1009Ter)
c.3007G>T (p.Glu1003Ter)
c.2950G>T (p.Glu984Ter)
c.2884G>T (p.Glu962Ter)
c.1450G>T (p.Glu484Ter)
c.802G>T (p.Glu268Ter)
c.589G>T (p.Glu197Ter)
c.2863G>T (p.Glu955Ter)
c.2998G>T (p.Glu1000Ter)
c.3004G>T (p.Glu1002Ter)
c.2920G>T (p.Glu974Ter)
c.2848G>T (p.Glu950Ter)
c.2782G>T (p.Glu928Ter)
c.2143G>T (p.Glu715Ter)
c.2761G>T (p.Glu921Ter)
 gnomAD v4
9g.137813158A>CCA375793712EHMT1c.3020A>C (p.Glu1007Ala)
c.2906A>C (p.Glu969Ala)
c.2927A>C (p.Glu976Ala)
c.3060A>C (n.3060A>C)
c.914A>C (p.Glu305Ala)
c.1877A>C (p.Glu626Ala)
c.707A>C
n.546A>C
c.3011A>C (p.Glu1004Ala)
c.3002A>C (p.Glu1001Ala)
c.3029A>C (p.Glu1010Ala)
c.3026A>C (p.Glu1009Ala)
c.3008A>C (p.Glu1003Ala)
c.2951A>C (p.Glu984Ala)
c.2885A>C (p.Glu962Ala)
c.1451A>C (p.Glu484Ala)
c.803A>C (p.Glu268Ala)
c.590A>C (p.Glu197Ala)
c.2864A>C (p.Glu955Ala)
c.2999A>C (p.Glu1000Ala)
c.3005A>C (p.Glu1002Ala)
c.2921A>C (p.Glu974Ala)
c.2849A>C (p.Glu950Ala)
c.2783A>C (p.Glu928Ala)
c.2144A>C (p.Glu715Ala)
c.2762A>C (p.Glu921Ala)
9g.137813158A>GCA375793713EHMT1c.3020A>G (p.Glu1007Gly)
c.2906A>G (p.Glu969Gly)
c.2927A>G (p.Glu976Gly)
c.3060A>G (n.3060A>G)
c.914A>G (p.Glu305Gly)
c.1877A>G (p.Glu626Gly)
c.707A>G
n.546A>G
c.3011A>G (p.Glu1004Gly)
c.3002A>G (p.Glu1001Gly)
c.3029A>G (p.Glu1010Gly)
c.3026A>G (p.Glu1009Gly)
c.3008A>G (p.Glu1003Gly)
c.2951A>G (p.Glu984Gly)
c.2885A>G (p.Glu962Gly)
c.1451A>G (p.Glu484Gly)
c.803A>G (p.Glu268Gly)
c.590A>G (p.Glu197Gly)
c.2864A>G (p.Glu955Gly)
c.2999A>G (p.Glu1000Gly)
c.3005A>G (p.Glu1002Gly)
c.2921A>G (p.Glu974Gly)
c.2849A>G (p.Glu950Gly)
c.2783A>G (p.Glu928Gly)
c.2144A>G (p.Glu715Gly)
c.2762A>G (p.Glu921Gly)
9g.137813158A>TCA375793714EHMT1c.3020A>T (p.Glu1007Val)
c.2906A>T (p.Glu969Val)
c.2927A>T (p.Glu976Val)
c.3060A>T (n.3060A>T)
c.914A>T (p.Glu305Val)
c.1877A>T (p.Glu626Val)
c.707A>T
n.546A>T
c.3011A>T (p.Glu1004Val)
c.3002A>T (p.Glu1001Val)
c.3029A>T (p.Glu1010Val)
c.3026A>T (p.Glu1009Val)
c.3008A>T (p.Glu1003Val)
c.2951A>T (p.Glu984Val)
c.2885A>T (p.Glu962Val)
c.1451A>T (p.Glu484Val)
c.803A>T (p.Glu268Val)
c.590A>T (p.Glu197Val)
c.2864A>T (p.Glu955Val)
c.2999A>T (p.Glu1000Val)
c.3005A>T (p.Glu1002Val)
c.2921A>T (p.Glu974Val)
c.2849A>T (p.Glu950Val)
c.2783A>T (p.Glu928Val)
c.2144A>T (p.Glu715Val)
c.2762A>T (p.Glu921Val)

Number of alleles fetched