Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9473230T>GCA1344740001SETD5n.1666-6T>G
c.3292-6T>G (n.3292-6T>G)
n.3700-6T>G
n.759T>G
n.4271-6T>G
n.4627-6T>G
c.3196-6T>G (n.3196-6T>G)
c.*3342-6T>G (n.*3342-6T>G)
c.*3265-6T>G (n.*3265-6T>G)
c.*3570-6T>G (n.*3570-6T>G)
c.*3301-6T>G (n.*3301-6T>G)
c.2902-6T>G (n.2902-6T>G)
c.2198-6T>G
c.3253-6T>G (n.3253-6T>G)
c.2232-6T>G
c.1187-6T>G
n.2537-6T>G
n.264-6T>G
n.3360-6T>G
c.3370-6T>G (n.3370-6T>G)
c.3349-6T>G (n.3349-6T>G)
c.3331-6T>G (n.3331-6T>G)
c.3313-6T>G (n.3313-6T>G)
c.3274-6T>G (n.3274-6T>G)
c.3235-6T>G (n.3235-6T>G)
c.2959-6T>G (n.2959-6T>G)
c.2920-6T>G (n.2920-6T>G)
c.3310-6T>G (n.3310-6T>G)
c.3217-6T>G (n.3217-6T>G)
c.2692-6T>G (n.2692-6T>G)
c.3007-6T>G (n.3007-6T>G)
n.7579-6T>G
 dbSNP gnomAD v4
3g.9473230T=CA1344739999SETD5n.1666-6T=
c.3292-6T= (n.3292-6T=)
n.3700-6T=
n.759T=
n.4271-6T=
n.4627-6T=
c.3196-6T= (n.3196-6T=)
c.*3342-6T= (n.*3342-6T=)
c.*3265-6T= (n.*3265-6T=)
c.*3570-6T= (n.*3570-6T=)
c.*3301-6T= (n.*3301-6T=)
c.2902-6T= (n.2902-6T=)
c.2198-6T=
c.3253-6T= (n.3253-6T=)
c.2232-6T=
c.1187-6T=
n.2537-6T=
n.264-6T=
n.3360-6T=
c.3370-6T= (n.3370-6T=)
c.3349-6T= (n.3349-6T=)
c.3331-6T= (n.3331-6T=)
c.3313-6T= (n.3313-6T=)
c.3274-6T= (n.3274-6T=)
c.3235-6T= (n.3235-6T=)
c.2959-6T= (n.2959-6T=)
c.2920-6T= (n.2920-6T=)
c.3310-6T= (n.3310-6T=)
c.3217-6T= (n.3217-6T=)
c.2692-6T= (n.2692-6T=)
c.3007-6T= (n.3007-6T=)
n.7579-6T=
3g.9473231T>CCA2577498677SETD5n.1666-5T>C
c.3292-5T>C (n.3292-5T>C)
n.3700-5T>C
n.760T>C
n.4271-5T>C
n.4627-5T>C
c.3196-5T>C (n.3196-5T>C)
c.*3342-5T>C (n.*3342-5T>C)
c.*3265-5T>C (n.*3265-5T>C)
c.*3570-5T>C (n.*3570-5T>C)
c.*3301-5T>C (n.*3301-5T>C)
c.2902-5T>C (n.2902-5T>C)
c.2198-5T>C
c.3253-5T>C (n.3253-5T>C)
c.2232-5T>C
c.1187-5T>C
n.2537-5T>C
n.264-5T>C
n.3360-5T>C
c.3370-5T>C (n.3370-5T>C)
c.3349-5T>C (n.3349-5T>C)
c.3331-5T>C (n.3331-5T>C)
c.3313-5T>C (n.3313-5T>C)
c.3274-5T>C (n.3274-5T>C)
c.3235-5T>C (n.3235-5T>C)
c.2959-5T>C (n.2959-5T>C)
c.2920-5T>C (n.2920-5T>C)
c.3310-5T>C (n.3310-5T>C)
c.3217-5T>C (n.3217-5T>C)
c.2692-5T>C (n.2692-5T>C)
c.3007-5T>C (n.3007-5T>C)
n.7579-5T>C
3g.9473232C>ACA2239640SETD5n.1666-4C>A
c.3292-4C>A (n.3292-4C>A)
n.3700-4C>A
n.761C>A
n.4271-4C>A
n.4627-4C>A
c.3196-4C>A (n.3196-4C>A)
c.*3342-4C>A (n.*3342-4C>A)
c.*3265-4C>A (n.*3265-4C>A)
c.*3570-4C>A (n.*3570-4C>A)
c.*3301-4C>A (n.*3301-4C>A)
c.2902-4C>A (n.2902-4C>A)
c.2198-4C>A
c.3253-4C>A (n.3253-4C>A)
c.2232-4C>A
c.1187-4C>A
n.2537-4C>A
n.264-4C>A
n.3360-4C>A
c.3370-4C>A (n.3370-4C>A)
c.3349-4C>A (n.3349-4C>A)
c.3331-4C>A (n.3331-4C>A)
c.3313-4C>A (n.3313-4C>A)
c.3274-4C>A (n.3274-4C>A)
c.3235-4C>A (n.3235-4C>A)
c.2959-4C>A (n.2959-4C>A)
c.2920-4C>A (n.2920-4C>A)
c.3310-4C>A (n.3310-4C>A)
c.3217-4C>A (n.3217-4C>A)
c.2692-4C>A (n.2692-4C>A)
c.3007-4C>A (n.3007-4C>A)
n.7579-4C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473232C=CA1344740003SETD5n.1666-4C=
c.3292-4C= (n.3292-4C=)
n.3700-4C=
n.761C=
n.4271-4C=
n.4627-4C=
c.3196-4C= (n.3196-4C=)
c.*3342-4C= (n.*3342-4C=)
c.*3265-4C= (n.*3265-4C=)
c.*3570-4C= (n.*3570-4C=)
c.*3301-4C= (n.*3301-4C=)
c.2902-4C= (n.2902-4C=)
c.2198-4C=
c.3253-4C= (n.3253-4C=)
c.2232-4C=
c.1187-4C=
n.2537-4C=
n.264-4C=
n.3360-4C=
c.3370-4C= (n.3370-4C=)
c.3349-4C= (n.3349-4C=)
c.3331-4C= (n.3331-4C=)
c.3313-4C= (n.3313-4C=)
c.3274-4C= (n.3274-4C=)
c.3235-4C= (n.3235-4C=)
c.2959-4C= (n.2959-4C=)
c.2920-4C= (n.2920-4C=)
c.3310-4C= (n.3310-4C=)
c.3217-4C= (n.3217-4C=)
c.2692-4C= (n.2692-4C=)
c.3007-4C= (n.3007-4C=)
n.7579-4C=
3g.9473232C>TCA2664307971SETD5n.1666-4C>T
c.3292-4C>T (n.3292-4C>T)
n.3700-4C>T
n.761C>T
n.4271-4C>T
n.4627-4C>T
c.3196-4C>T (n.3196-4C>T)
c.*3342-4C>T (n.*3342-4C>T)
c.*3265-4C>T (n.*3265-4C>T)
c.*3570-4C>T (n.*3570-4C>T)
c.*3301-4C>T (n.*3301-4C>T)
c.2902-4C>T (n.2902-4C>T)
c.2198-4C>T
c.3253-4C>T (n.3253-4C>T)
c.2232-4C>T
c.1187-4C>T
n.2537-4C>T
n.264-4C>T
n.3360-4C>T
c.3370-4C>T (n.3370-4C>T)
c.3349-4C>T (n.3349-4C>T)
c.3331-4C>T (n.3331-4C>T)
c.3313-4C>T (n.3313-4C>T)
c.3274-4C>T (n.3274-4C>T)
c.3235-4C>T (n.3235-4C>T)
c.2959-4C>T (n.2959-4C>T)
c.2920-4C>T (n.2920-4C>T)
c.3310-4C>T (n.3310-4C>T)
c.3217-4C>T (n.3217-4C>T)
c.2692-4C>T (n.2692-4C>T)
c.3007-4C>T (n.3007-4C>T)
n.7579-4C>T
 gnomAD v4
3g.9473234A>CCA351684524SETD5n.1666-2A>C
c.3292-2A>C (n.3292-2A>C)
n.3700-2A>C
n.763A>C
n.4271-2A>C
n.4627-2A>C
c.3196-2A>C (n.3196-2A>C)
c.*3342-2A>C (n.*3342-2A>C)
c.*3265-2A>C (n.*3265-2A>C)
c.*3570-2A>C (n.*3570-2A>C)
c.*3301-2A>C (n.*3301-2A>C)
c.2902-2A>C (n.2902-2A>C)
c.2198-2A>C
c.3253-2A>C (n.3253-2A>C)
c.2232-2A>C
c.1187-2A>C
n.2537-2A>C
n.264-2A>C
n.3360-2A>C
c.3370-2A>C (n.3370-2A>C)
c.3349-2A>C (n.3349-2A>C)
c.3331-2A>C (n.3331-2A>C)
c.3313-2A>C (n.3313-2A>C)
c.3274-2A>C (n.3274-2A>C)
c.3235-2A>C (n.3235-2A>C)
c.2959-2A>C (n.2959-2A>C)
c.2920-2A>C (n.2920-2A>C)
c.3310-2A>C (n.3310-2A>C)
c.3217-2A>C (n.3217-2A>C)
c.2692-2A>C (n.2692-2A>C)
c.3007-2A>C (n.3007-2A>C)
n.7579-2A>C
3g.9473234A>GCA351684526SETD5n.1666-2A>G
c.3292-2A>G (n.3292-2A>G)
n.3700-2A>G
n.763A>G
n.4271-2A>G
n.4627-2A>G
c.3196-2A>G (n.3196-2A>G)
c.*3342-2A>G (n.*3342-2A>G)
c.*3265-2A>G (n.*3265-2A>G)
c.*3570-2A>G (n.*3570-2A>G)
c.*3301-2A>G (n.*3301-2A>G)
c.2902-2A>G (n.2902-2A>G)
c.2198-2A>G
c.3253-2A>G (n.3253-2A>G)
c.2232-2A>G
c.1187-2A>G
n.2537-2A>G
n.264-2A>G
n.3360-2A>G
c.3370-2A>G (n.3370-2A>G)
c.3349-2A>G (n.3349-2A>G)
c.3331-2A>G (n.3331-2A>G)
c.3313-2A>G (n.3313-2A>G)
c.3274-2A>G (n.3274-2A>G)
c.3235-2A>G (n.3235-2A>G)
c.2959-2A>G (n.2959-2A>G)
c.2920-2A>G (n.2920-2A>G)
c.3310-2A>G (n.3310-2A>G)
c.3217-2A>G (n.3217-2A>G)
c.2692-2A>G (n.2692-2A>G)
c.3007-2A>G (n.3007-2A>G)
n.7579-2A>G
 ClinVar gnomAD v4
3g.9473234A>TCA351684530SETD5n.1666-2A>T
c.3292-2A>T (n.3292-2A>T)
n.3700-2A>T
n.763A>T
n.4271-2A>T
n.4627-2A>T
c.3196-2A>T (n.3196-2A>T)
c.*3342-2A>T (n.*3342-2A>T)
c.*3265-2A>T (n.*3265-2A>T)
c.*3570-2A>T (n.*3570-2A>T)
c.*3301-2A>T (n.*3301-2A>T)
c.2902-2A>T (n.2902-2A>T)
c.2198-2A>T
c.3253-2A>T (n.3253-2A>T)
c.2232-2A>T
c.1187-2A>T
n.2537-2A>T
n.264-2A>T
n.3360-2A>T
c.3370-2A>T (n.3370-2A>T)
c.3349-2A>T (n.3349-2A>T)
c.3331-2A>T (n.3331-2A>T)
c.3313-2A>T (n.3313-2A>T)
c.3274-2A>T (n.3274-2A>T)
c.3235-2A>T (n.3235-2A>T)
c.2959-2A>T (n.2959-2A>T)
c.2920-2A>T (n.2920-2A>T)
c.3310-2A>T (n.3310-2A>T)
c.3217-2A>T (n.3217-2A>T)
c.2692-2A>T (n.2692-2A>T)
c.3007-2A>T (n.3007-2A>T)
n.7579-2A>T
 gnomAD v4
3g.9473235G>ACA351684543SETD5n.1666-1G>A
c.3292-1G>A (n.3292-1G>A)
n.3700-1G>A
n.764G>A
n.4271-1G>A
n.4627-1G>A
c.3196-1G>A (n.3196-1G>A)
c.*3342-1G>A (n.*3342-1G>A)
c.*3265-1G>A (n.*3265-1G>A)
c.*3570-1G>A (n.*3570-1G>A)
c.*3301-1G>A (n.*3301-1G>A)
c.2902-1G>A (n.2902-1G>A)
c.2198-1G>A
c.3253-1G>A (n.3253-1G>A)
c.2232-1G>A
c.1187-1G>A
n.2537-1G>A
n.264-1G>A
n.3360-1G>A
c.3370-1G>A (n.3370-1G>A)
c.3349-1G>A (n.3349-1G>A)
c.3331-1G>A (n.3331-1G>A)
c.3313-1G>A (n.3313-1G>A)
c.3274-1G>A (n.3274-1G>A)
c.3235-1G>A (n.3235-1G>A)
c.2959-1G>A (n.2959-1G>A)
c.2920-1G>A (n.2920-1G>A)
c.3310-1G>A (n.3310-1G>A)
c.3217-1G>A (n.3217-1G>A)
c.2692-1G>A (n.2692-1G>A)
c.3007-1G>A (n.3007-1G>A)
n.7579-1G>A
3g.9473235G>CCA351684547SETD5n.1666-1G>C
c.3292-1G>C (n.3292-1G>C)
n.3700-1G>C
n.764G>C
n.4271-1G>C
n.4627-1G>C
c.3196-1G>C (n.3196-1G>C)
c.*3342-1G>C (n.*3342-1G>C)
c.*3265-1G>C (n.*3265-1G>C)
c.*3570-1G>C (n.*3570-1G>C)
c.*3301-1G>C (n.*3301-1G>C)
c.2902-1G>C (n.2902-1G>C)
c.2198-1G>C
c.3253-1G>C (n.3253-1G>C)
c.2232-1G>C
c.1187-1G>C
n.2537-1G>C
n.264-1G>C
n.3360-1G>C
c.3370-1G>C (n.3370-1G>C)
c.3349-1G>C (n.3349-1G>C)
c.3331-1G>C (n.3331-1G>C)
c.3313-1G>C (n.3313-1G>C)
c.3274-1G>C (n.3274-1G>C)
c.3235-1G>C (n.3235-1G>C)
c.2959-1G>C (n.2959-1G>C)
c.2920-1G>C (n.2920-1G>C)
c.3310-1G>C (n.3310-1G>C)
c.3217-1G>C (n.3217-1G>C)
c.2692-1G>C (n.2692-1G>C)
c.3007-1G>C (n.3007-1G>C)
n.7579-1G>C
3g.9473235G>TCA351684552SETD5n.1666-1G>T
c.3292-1G>T (n.3292-1G>T)
n.3700-1G>T
n.764G>T
n.4271-1G>T
n.4627-1G>T
c.3196-1G>T (n.3196-1G>T)
c.*3342-1G>T (n.*3342-1G>T)
c.*3265-1G>T (n.*3265-1G>T)
c.*3570-1G>T (n.*3570-1G>T)
c.*3301-1G>T (n.*3301-1G>T)
c.2902-1G>T (n.2902-1G>T)
c.2198-1G>T
c.3253-1G>T (n.3253-1G>T)
c.2232-1G>T
c.1187-1G>T
n.2537-1G>T
n.264-1G>T
n.3360-1G>T
c.3370-1G>T (n.3370-1G>T)
c.3349-1G>T (n.3349-1G>T)
c.3331-1G>T (n.3331-1G>T)
c.3313-1G>T (n.3313-1G>T)
c.3274-1G>T (n.3274-1G>T)
c.3235-1G>T (n.3235-1G>T)
c.2959-1G>T (n.2959-1G>T)
c.2920-1G>T (n.2920-1G>T)
c.3310-1G>T (n.3310-1G>T)
c.3217-1G>T (n.3217-1G>T)
c.2692-1G>T (n.2692-1G>T)
c.3007-1G>T (n.3007-1G>T)
n.7579-1G>T
 gnomAD v4
3g.9473236G>ACA351684559SETD5n.1666G>A
c.3292G>A (p.Val1098Ile)
n.3700G>A
n.765G>A
n.4271G>A
n.4627G>A
c.3196G>A (p.Val1066Ile)
c.*3342G>A (n.*3342G>A)
c.*3265G>A (n.*3265G>A)
c.*3570G>A (n.*3570G>A)
c.*3301G>A (n.*3301G>A)
c.2902G>A (p.Val968Ile)
c.2198G>A
c.3253G>A (p.Val1085Ile)
c.2232G>A
c.1187G>A
n.2537G>A
n.264G>A
n.1G>A
n.3360G>A
c.3370G>A (p.Val1124Ile)
c.3349G>A (p.Val1117Ile)
c.3331G>A (p.Val1111Ile)
c.3313G>A (p.Val1105Ile)
c.3274G>A (p.Val1092Ile)
c.3235G>A (p.Val1079Ile)
c.2959G>A (p.Val987Ile)
c.2920G>A (p.Val974Ile)
c.3310G>A (p.Val1104Ile)
c.3217G>A (p.Val1073Ile)
c.2692G>A (p.Val898Ile)
c.3007G>A (p.Val1003Ile)
n.7579G>A
3g.9473236G>CCA351684565SETD5n.1666G>C
c.3292G>C (p.Val1098Leu)
n.3700G>C
n.765G>C
n.4271G>C
n.4627G>C
c.3196G>C (p.Val1066Leu)
c.*3342G>C (n.*3342G>C)
c.*3265G>C (n.*3265G>C)
c.*3570G>C (n.*3570G>C)
c.*3301G>C (n.*3301G>C)
c.2902G>C (p.Val968Leu)
c.2198G>C
c.3253G>C (p.Val1085Leu)
c.2232G>C
c.1187G>C
n.2537G>C
n.264G>C
n.1G>C
n.3360G>C
c.3370G>C (p.Val1124Leu)
c.3349G>C (p.Val1117Leu)
c.3331G>C (p.Val1111Leu)
c.3313G>C (p.Val1105Leu)
c.3274G>C (p.Val1092Leu)
c.3235G>C (p.Val1079Leu)
c.2959G>C (p.Val987Leu)
c.2920G>C (p.Val974Leu)
c.3310G>C (p.Val1104Leu)
c.3217G>C (p.Val1073Leu)
c.2692G>C (p.Val898Leu)
c.3007G>C (p.Val1003Leu)
n.7579G>C
3g.9473236G>TCA351684567SETD5n.1666G>T
c.3292G>T (p.Val1098Leu)
n.3700G>T
n.765G>T
n.4271G>T
n.4627G>T
c.3196G>T (p.Val1066Leu)
c.*3342G>T (n.*3342G>T)
c.*3265G>T (n.*3265G>T)
c.*3570G>T (n.*3570G>T)
c.*3301G>T (n.*3301G>T)
c.2902G>T (p.Val968Leu)
c.2198G>T
c.3253G>T (p.Val1085Leu)
c.2232G>T
c.1187G>T
n.2537G>T
n.264G>T
n.1G>T
n.3360G>T
c.3370G>T (p.Val1124Leu)
c.3349G>T (p.Val1117Leu)
c.3331G>T (p.Val1111Leu)
c.3313G>T (p.Val1105Leu)
c.3274G>T (p.Val1092Leu)
c.3235G>T (p.Val1079Leu)
c.2959G>T (p.Val987Leu)
c.2920G>T (p.Val974Leu)
c.3310G>T (p.Val1104Leu)
c.3217G>T (p.Val1073Leu)
c.2692G>T (p.Val898Leu)
c.3007G>T (p.Val1003Leu)
n.7579G>T
 gnomAD v4
3g.9473237T>ACA351684572SETD5n.1667T>A
c.3293T>A (p.Val1098Glu)
n.3701T>A
n.766T>A
n.4272T>A
n.4628T>A
c.3197T>A (p.Val1066Glu)
c.*3343T>A (n.*3343T>A)
c.*3266T>A (n.*3266T>A)
c.*3571T>A (n.*3571T>A)
c.*3302T>A (n.*3302T>A)
c.2903T>A (p.Val968Glu)
c.2199T>A
c.3254T>A (p.Val1085Glu)
c.2233T>A
c.1188T>A
n.2538T>A
n.265T>A
n.2T>A
n.3361T>A
c.3371T>A (p.Val1124Glu)
c.3350T>A (p.Val1117Glu)
c.3332T>A (p.Val1111Glu)
c.3314T>A (p.Val1105Glu)
c.3275T>A (p.Val1092Glu)
c.3236T>A (p.Val1079Glu)
c.2960T>A (p.Val987Glu)
c.2921T>A (p.Val974Glu)
c.3311T>A (p.Val1104Glu)
c.3218T>A (p.Val1073Glu)
c.2693T>A (p.Val898Glu)
c.3008T>A (p.Val1003Glu)
n.7580T>A
3g.9473237T>CCA351684576SETD5n.1667T>C
c.3293T>C (p.Val1098Ala)
n.3701T>C
n.766T>C
n.4272T>C
n.4628T>C
c.3197T>C (p.Val1066Ala)
c.*3343T>C (n.*3343T>C)
c.*3266T>C (n.*3266T>C)
c.*3571T>C (n.*3571T>C)
c.*3302T>C (n.*3302T>C)
c.2903T>C (p.Val968Ala)
c.2199T>C
c.3254T>C (p.Val1085Ala)
c.2233T>C
c.1188T>C
n.2538T>C
n.265T>C
n.2T>C
n.3361T>C
c.3371T>C (p.Val1124Ala)
c.3350T>C (p.Val1117Ala)
c.3332T>C (p.Val1111Ala)
c.3314T>C (p.Val1105Ala)
c.3275T>C (p.Val1092Ala)
c.3236T>C (p.Val1079Ala)
c.2960T>C (p.Val987Ala)
c.2921T>C (p.Val974Ala)
c.3311T>C (p.Val1104Ala)
c.3218T>C (p.Val1073Ala)
c.2693T>C (p.Val898Ala)
c.3008T>C (p.Val1003Ala)
n.7580T>C
 gnomAD v4
3g.9473237T>GCA351684579SETD5n.1667T>G
c.3293T>G (p.Val1098Gly)
n.3701T>G
n.766T>G
n.4272T>G
n.4628T>G
c.3197T>G (p.Val1066Gly)
c.*3343T>G (n.*3343T>G)
c.*3266T>G (n.*3266T>G)
c.*3571T>G (n.*3571T>G)
c.*3302T>G (n.*3302T>G)
c.2903T>G (p.Val968Gly)
c.2199T>G
c.3254T>G (p.Val1085Gly)
c.2233T>G
c.1188T>G
n.2538T>G
n.265T>G
n.2T>G
n.3361T>G
c.3371T>G (p.Val1124Gly)
c.3350T>G (p.Val1117Gly)
c.3332T>G (p.Val1111Gly)
c.3314T>G (p.Val1105Gly)
c.3275T>G (p.Val1092Gly)
c.3236T>G (p.Val1079Gly)
c.2960T>G (p.Val987Gly)
c.2921T>G (p.Val974Gly)
c.3311T>G (p.Val1104Gly)
c.3218T>G (p.Val1073Gly)
c.2693T>G (p.Val898Gly)
c.3008T>G (p.Val1003Gly)
n.7580T>G
 ClinVar
3g.9473238A=CA1344740007SETD5n.1668A=
c.3294A= (p.Val1098=)
n.3702A=
n.767A=
n.4273A=
n.4629A=
c.3198A= (p.Val1066=)
c.*3344A= (n.*3344A=)
c.*3267A= (n.*3267A=)
c.*3572A= (n.*3572A=)
c.*3303A= (n.*3303A=)
c.2904A= (p.Val968=)
c.2200A=
c.3255A= (p.Val1085=)
c.2234A=
c.1189A=
n.2539A=
n.266A=
n.3A=
n.3362A=
c.3372A= (p.Val1124=)
c.3351A= (p.Val1117=)
c.3333A= (p.Val1111=)
c.3315A= (p.Val1105=)
c.3276A= (p.Val1092=)
c.3237A= (p.Val1079=)
c.2961A= (p.Val987=)
c.2922A= (p.Val974=)
c.3312A= (p.Val1104=)
c.3219A= (p.Val1073=)
c.2694A= (p.Val898=)
c.3009A= (p.Val1003=)
n.7581A=
3g.9473238A>CCA432365678SETD5n.1668A>C
c.3294A>C (p.Val1098=)
n.3702A>C
n.767A>C
n.4273A>C
n.4629A>C
c.3198A>C (p.Val1066=)
c.*3344A>C (n.*3344A>C)
c.*3267A>C (n.*3267A>C)
c.*3572A>C (n.*3572A>C)
c.*3303A>C (n.*3303A>C)
c.2904A>C (p.Val968=)
c.2200A>C
c.3255A>C (p.Val1085=)
c.2234A>C
c.1189A>C
n.2539A>C
n.266A>C
n.3A>C
n.3362A>C
c.3372A>C (p.Val1124=)
c.3351A>C (p.Val1117=)
c.3333A>C (p.Val1111=)
c.3315A>C (p.Val1105=)
c.3276A>C (p.Val1092=)
c.3237A>C (p.Val1079=)
c.2961A>C (p.Val987=)
c.2922A>C (p.Val974=)
c.3312A>C (p.Val1104=)
c.3219A>C (p.Val1073=)
c.2694A>C (p.Val898=)
c.3009A>C (p.Val1003=)
n.7581A>C
3g.9473238A>GCA69951018SETD5n.1668A>G
c.3294A>G (p.Val1098=)
n.3702A>G
n.767A>G
n.4273A>G
n.4629A>G
c.3198A>G (p.Val1066=)
c.*3344A>G (n.*3344A>G)
c.*3267A>G (n.*3267A>G)
c.*3572A>G (n.*3572A>G)
c.*3303A>G (n.*3303A>G)
c.2904A>G (p.Val968=)
c.2200A>G
c.3255A>G (p.Val1085=)
c.2234A>G
c.1189A>G
n.2539A>G
n.266A>G
n.3A>G
n.3362A>G
c.3372A>G (p.Val1124=)
c.3351A>G (p.Val1117=)
c.3333A>G (p.Val1111=)
c.3315A>G (p.Val1105=)
c.3276A>G (p.Val1092=)
c.3237A>G (p.Val1079=)
c.2961A>G (p.Val987=)
c.2922A>G (p.Val974=)
c.3312A>G (p.Val1104=)
c.3219A>G (p.Val1073=)
c.2694A>G (p.Val898=)
c.3009A>G (p.Val1003=)
n.7581A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9473238A>TCA432365679SETD5n.1668A>T
c.3294A>T (p.Val1098=)
n.3702A>T
n.767A>T
n.4273A>T
n.4629A>T
c.3198A>T (p.Val1066=)
c.*3344A>T (n.*3344A>T)
c.*3267A>T (n.*3267A>T)
c.*3572A>T (n.*3572A>T)
c.*3303A>T (n.*3303A>T)
c.2904A>T (p.Val968=)
c.2200A>T
c.3255A>T (p.Val1085=)
c.2234A>T
c.1189A>T
n.2539A>T
n.266A>T
n.3A>T
n.3362A>T
c.3372A>T (p.Val1124=)
c.3351A>T (p.Val1117=)
c.3333A>T (p.Val1111=)
c.3315A>T (p.Val1105=)
c.3276A>T (p.Val1092=)
c.3237A>T (p.Val1079=)
c.2961A>T (p.Val987=)
c.2922A>T (p.Val974=)
c.3312A>T (p.Val1104=)
c.3219A>T (p.Val1073=)
c.2694A>T (p.Val898=)
c.3009A>T (p.Val1003=)
n.7581A>T
3g.9473239T>ACA351684586SETD5n.1669T>A
c.3295T>A (p.Ser1099Thr)
n.3703T>A
n.768T>A
n.4274T>A
n.4630T>A
c.3199T>A (p.Ser1067Thr)
c.*3345T>A (n.*3345T>A)
c.*3268T>A (n.*3268T>A)
c.*3573T>A (n.*3573T>A)
c.*3304T>A (n.*3304T>A)
c.2905T>A (p.Ser969Thr)
c.2201T>A
c.3256T>A (p.Ser1086Thr)
c.2235T>A
c.1190T>A
n.2540T>A
n.267T>A
n.4T>A
n.3363T>A
c.3373T>A (p.Ser1125Thr)
c.3352T>A (p.Ser1118Thr)
c.3334T>A (p.Ser1112Thr)
c.3316T>A (p.Ser1106Thr)
c.3277T>A (p.Ser1093Thr)
c.3238T>A (p.Ser1080Thr)
c.2962T>A (p.Ser988Thr)
c.2923T>A (p.Ser975Thr)
c.3313T>A (p.Ser1105Thr)
c.3220T>A (p.Ser1074Thr)
c.2695T>A (p.Ser899Thr)
c.3010T>A (p.Ser1004Thr)
n.7582T>A
3g.9473239T>CCA351684587SETD5n.1669T>C
c.3295T>C (p.Ser1099Pro)
n.3703T>C
n.768T>C
n.4274T>C
n.4630T>C
c.3199T>C (p.Ser1067Pro)
c.*3345T>C (n.*3345T>C)
c.*3268T>C (n.*3268T>C)
c.*3573T>C (n.*3573T>C)
c.*3304T>C (n.*3304T>C)
c.2905T>C (p.Ser969Pro)
c.2201T>C
c.3256T>C (p.Ser1086Pro)
c.2235T>C
c.1190T>C
n.2540T>C
n.267T>C
n.4T>C
n.3363T>C
c.3373T>C (p.Ser1125Pro)
c.3352T>C (p.Ser1118Pro)
c.3334T>C (p.Ser1112Pro)
c.3316T>C (p.Ser1106Pro)
c.3277T>C (p.Ser1093Pro)
c.3238T>C (p.Ser1080Pro)
c.2962T>C (p.Ser988Pro)
c.2923T>C (p.Ser975Pro)
c.3313T>C (p.Ser1105Pro)
c.3220T>C (p.Ser1074Pro)
c.2695T>C (p.Ser899Pro)
c.3010T>C (p.Ser1004Pro)
n.7582T>C
3g.9473239T>GCA351684585SETD5n.1669T>G
c.3295T>G (p.Ser1099Ala)
n.3703T>G
n.768T>G
n.4274T>G
n.4630T>G
c.3199T>G (p.Ser1067Ala)
c.*3345T>G (n.*3345T>G)
c.*3268T>G (n.*3268T>G)
c.*3573T>G (n.*3573T>G)
c.*3304T>G (n.*3304T>G)
c.2905T>G (p.Ser969Ala)
c.2201T>G
c.3256T>G (p.Ser1086Ala)
c.2235T>G
c.1190T>G
n.2540T>G
n.267T>G
n.4T>G
n.3363T>G
c.3373T>G (p.Ser1125Ala)
c.3352T>G (p.Ser1118Ala)
c.3334T>G (p.Ser1112Ala)
c.3316T>G (p.Ser1106Ala)
c.3277T>G (p.Ser1093Ala)
c.3238T>G (p.Ser1080Ala)
c.2962T>G (p.Ser988Ala)
c.2923T>G (p.Ser975Ala)
c.3313T>G (p.Ser1105Ala)
c.3220T>G (p.Ser1074Ala)
c.2695T>G (p.Ser899Ala)
c.3010T>G (p.Ser1004Ala)
n.7582T>G
3g.9473240C>ACA351684594SETD5n.1670C>A
c.3296C>A (p.Ser1099Tyr)
n.3704C>A
n.769C>A
n.4275C>A
n.4631C>A
c.3200C>A (p.Ser1067Tyr)
c.*3346C>A (n.*3346C>A)
c.*3269C>A (n.*3269C>A)
c.*3574C>A (n.*3574C>A)
c.*3305C>A (n.*3305C>A)
c.2906C>A (p.Ser969Tyr)
c.2202C>A
c.3257C>A (p.Ser1086Tyr)
c.2236C>A
c.1191C>A
n.2541C>A
n.268C>A
n.5C>A
n.3364C>A
c.3374C>A (p.Ser1125Tyr)
c.3353C>A (p.Ser1118Tyr)
c.3335C>A (p.Ser1112Tyr)
c.3317C>A (p.Ser1106Tyr)
c.3278C>A (p.Ser1093Tyr)
c.3239C>A (p.Ser1080Tyr)
c.2963C>A (p.Ser988Tyr)
c.2924C>A (p.Ser975Tyr)
c.3314C>A (p.Ser1105Tyr)
c.3221C>A (p.Ser1074Tyr)
c.2696C>A (p.Ser899Tyr)
c.3011C>A (p.Ser1004Tyr)
n.7583C>A
3g.9473240C>GCA351684589SETD5n.1670C>G
c.3296C>G (p.Ser1099Cys)
n.3704C>G
n.769C>G
n.4275C>G
n.4631C>G
c.3200C>G (p.Ser1067Cys)
c.*3346C>G (n.*3346C>G)
c.*3269C>G (n.*3269C>G)
c.*3574C>G (n.*3574C>G)
c.*3305C>G (n.*3305C>G)
c.2906C>G (p.Ser969Cys)
c.2202C>G
c.3257C>G (p.Ser1086Cys)
c.2236C>G
c.1191C>G
n.2541C>G
n.268C>G
n.5C>G
n.3364C>G
c.3374C>G (p.Ser1125Cys)
c.3353C>G (p.Ser1118Cys)
c.3335C>G (p.Ser1112Cys)
c.3317C>G (p.Ser1106Cys)
c.3278C>G (p.Ser1093Cys)
c.3239C>G (p.Ser1080Cys)
c.2963C>G (p.Ser988Cys)
c.2924C>G (p.Ser975Cys)
c.3314C>G (p.Ser1105Cys)
c.3221C>G (p.Ser1074Cys)
c.2696C>G (p.Ser899Cys)
c.3011C>G (p.Ser1004Cys)
n.7583C>G
3g.9473240C>TCA351684591SETD5n.1670C>T
c.3296C>T (p.Ser1099Phe)
n.3704C>T
n.769C>T
n.4275C>T
n.4631C>T
c.3200C>T (p.Ser1067Phe)
c.*3346C>T (n.*3346C>T)
c.*3269C>T (n.*3269C>T)
c.*3574C>T (n.*3574C>T)
c.*3305C>T (n.*3305C>T)
c.2906C>T (p.Ser969Phe)
c.2202C>T
c.3257C>T (p.Ser1086Phe)
c.2236C>T
c.1191C>T
n.2541C>T
n.268C>T
n.5C>T
n.3364C>T
c.3374C>T (p.Ser1125Phe)
c.3353C>T (p.Ser1118Phe)
c.3335C>T (p.Ser1112Phe)
c.3317C>T (p.Ser1106Phe)
c.3278C>T (p.Ser1093Phe)
c.3239C>T (p.Ser1080Phe)
c.2963C>T (p.Ser988Phe)
c.2924C>T (p.Ser975Phe)
c.3314C>T (p.Ser1105Phe)
c.3221C>T (p.Ser1074Phe)
c.2696C>T (p.Ser899Phe)
c.3011C>T (p.Ser1004Phe)
n.7583C>T
 COSMIC COSMIC
3g.9473241C>ACA432365686SETD5n.1671C>A
c.3297C>A (p.Ser1099=)
n.3705C>A
n.770C>A
n.4276C>A
n.4632C>A
c.3201C>A (p.Ser1067=)
c.*3347C>A (n.*3347C>A)
c.*3270C>A (n.*3270C>A)
c.*3575C>A (n.*3575C>A)
c.*3306C>A (n.*3306C>A)
c.2907C>A (p.Ser969=)
c.2203C>A
c.3258C>A (p.Ser1086=)
c.2237C>A
c.1192C>A
n.2542C>A
n.269C>A
n.6C>A
n.3365C>A
c.3375C>A (p.Ser1125=)
c.3354C>A (p.Ser1118=)
c.3336C>A (p.Ser1112=)
c.3318C>A (p.Ser1106=)
c.3279C>A (p.Ser1093=)
c.3240C>A (p.Ser1080=)
c.2964C>A (p.Ser988=)
c.2925C>A (p.Ser975=)
c.3315C>A (p.Ser1105=)
c.3222C>A (p.Ser1074=)
c.2697C>A (p.Ser899=)
c.3012C>A (p.Ser1004=)
n.7584C>A
3g.9473241C>GCA432365688SETD5n.1671C>G
c.3297C>G (p.Ser1099=)
n.3705C>G
n.770C>G
n.4276C>G
n.4632C>G
c.3201C>G (p.Ser1067=)
c.*3347C>G (n.*3347C>G)
c.*3270C>G (n.*3270C>G)
c.*3575C>G (n.*3575C>G)
c.*3306C>G (n.*3306C>G)
c.2907C>G (p.Ser969=)
c.2203C>G
c.3258C>G (p.Ser1086=)
c.2237C>G
c.1192C>G
n.2542C>G
n.269C>G
n.6C>G
n.3365C>G
c.3375C>G (p.Ser1125=)
c.3354C>G (p.Ser1118=)
c.3336C>G (p.Ser1112=)
c.3318C>G (p.Ser1106=)
c.3279C>G (p.Ser1093=)
c.3240C>G (p.Ser1080=)
c.2964C>G (p.Ser988=)
c.2925C>G (p.Ser975=)
c.3315C>G (p.Ser1105=)
c.3222C>G (p.Ser1074=)
c.2697C>G (p.Ser899=)
c.3012C>G (p.Ser1004=)
n.7584C>G
3g.9473241C>TCA432365687SETD5n.1671C>T
c.3297C>T (p.Ser1099=)
n.3705C>T
n.770C>T
n.4276C>T
n.4632C>T
c.3201C>T (p.Ser1067=)
c.*3347C>T (n.*3347C>T)
c.*3270C>T (n.*3270C>T)
c.*3575C>T (n.*3575C>T)
c.*3306C>T (n.*3306C>T)
c.2907C>T (p.Ser969=)
c.2203C>T
c.3258C>T (p.Ser1086=)
c.2237C>T
c.1192C>T
n.2542C>T
n.269C>T
n.6C>T
n.3365C>T
c.3375C>T (p.Ser1125=)
c.3354C>T (p.Ser1118=)
c.3336C>T (p.Ser1112=)
c.3318C>T (p.Ser1106=)
c.3279C>T (p.Ser1093=)
c.3240C>T (p.Ser1080=)
c.2964C>T (p.Ser988=)
c.2925C>T (p.Ser975=)
c.3315C>T (p.Ser1105=)
c.3222C>T (p.Ser1074=)
c.2697C>T (p.Ser899=)
c.3012C>T (p.Ser1004=)
n.7584C>T
3g.9473242C>ACA351684597SETD5n.1672C>A
c.3298C>A (p.Leu1100Met)
n.3706C>A
n.771C>A
n.4277C>A
n.4633C>A
c.3202C>A (p.Leu1068Met)
c.*3348C>A (n.*3348C>A)
c.*3271C>A (n.*3271C>A)
c.*3576C>A (n.*3576C>A)
c.*3307C>A (n.*3307C>A)
c.2908C>A (p.Leu970Met)
c.2204C>A
c.3259C>A (p.Leu1087Met)
c.2238C>A
c.1193C>A
n.2543C>A
n.270C>A
n.7C>A
n.3366C>A
c.3376C>A (p.Leu1126Met)
c.3355C>A (p.Leu1119Met)
c.3337C>A (p.Leu1113Met)
c.3319C>A (p.Leu1107Met)
c.3280C>A (p.Leu1094Met)
c.3241C>A (p.Leu1081Met)
c.2965C>A (p.Leu989Met)
c.2926C>A (p.Leu976Met)
c.3316C>A (p.Leu1106Met)
c.3223C>A (p.Leu1075Met)
c.2698C>A (p.Leu900Met)
c.3013C>A (p.Leu1005Met)
n.7585C>A
3g.9473242C>GCA351684601SETD5n.1672C>G
c.3298C>G (p.Leu1100Val)
n.3706C>G
n.771C>G
n.4277C>G
n.4633C>G
c.3202C>G (p.Leu1068Val)
c.*3348C>G (n.*3348C>G)
c.*3271C>G (n.*3271C>G)
c.*3576C>G (n.*3576C>G)
c.*3307C>G (n.*3307C>G)
c.2908C>G (p.Leu970Val)
c.2204C>G
c.3259C>G (p.Leu1087Val)
c.2238C>G
c.1193C>G
n.2543C>G
n.270C>G
n.7C>G
n.3366C>G
c.3376C>G (p.Leu1126Val)
c.3355C>G (p.Leu1119Val)
c.3337C>G (p.Leu1113Val)
c.3319C>G (p.Leu1107Val)
c.3280C>G (p.Leu1094Val)
c.3241C>G (p.Leu1081Val)
c.2965C>G (p.Leu989Val)
c.2926C>G (p.Leu976Val)
c.3316C>G (p.Leu1106Val)
c.3223C>G (p.Leu1075Val)
c.2698C>G (p.Leu900Val)
c.3013C>G (p.Leu1005Val)
n.7585C>G
3g.9473242C>TCA432365691SETD5n.1672C>T
c.3298C>T (p.Leu1100=)
n.3706C>T
n.771C>T
n.4277C>T
n.4633C>T
c.3202C>T (p.Leu1068=)
c.*3348C>T (n.*3348C>T)
c.*3271C>T (n.*3271C>T)
c.*3576C>T (n.*3576C>T)
c.*3307C>T (n.*3307C>T)
c.2908C>T (p.Leu970=)
c.2204C>T
c.3259C>T (p.Leu1087=)
c.2238C>T
c.1193C>T
n.2543C>T
n.270C>T
n.7C>T
n.3366C>T
c.3376C>T (p.Leu1126=)
c.3355C>T (p.Leu1119=)
c.3337C>T (p.Leu1113=)
c.3319C>T (p.Leu1107=)
c.3280C>T (p.Leu1094=)
c.3241C>T (p.Leu1081=)
c.2965C>T (p.Leu989=)
c.2926C>T (p.Leu976=)
c.3316C>T (p.Leu1106=)
c.3223C>T (p.Leu1075=)
c.2698C>T (p.Leu900=)
c.3013C>T (p.Leu1005=)
n.7585C>T
 ClinVar gnomAD v4
3g.9473243T>ACA351684604SETD5n.1673T>A
c.3299T>A (p.Leu1100Gln)
n.3707T>A
n.772T>A
n.4278T>A
n.4634T>A
c.3203T>A (p.Leu1068Gln)
c.*3349T>A (n.*3349T>A)
c.*3272T>A (n.*3272T>A)
c.*3577T>A (n.*3577T>A)
c.*3308T>A (n.*3308T>A)
c.2909T>A (p.Leu970Gln)
c.2205T>A
c.3260T>A (p.Leu1087Gln)
c.2239T>A
c.1194T>A
n.2544T>A
n.271T>A
n.8T>A
n.3367T>A
c.3377T>A (p.Leu1126Gln)
c.3356T>A (p.Leu1119Gln)
c.3338T>A (p.Leu1113Gln)
c.3320T>A (p.Leu1107Gln)
c.3281T>A (p.Leu1094Gln)
c.3242T>A (p.Leu1081Gln)
c.2966T>A (p.Leu989Gln)
c.2927T>A (p.Leu976Gln)
c.3317T>A (p.Leu1106Gln)
c.3224T>A (p.Leu1075Gln)
c.2699T>A (p.Leu900Gln)
c.3014T>A (p.Leu1005Gln)
n.7586T>A
3g.9473243T>CCA351684607SETD5n.1673T>C
c.3299T>C (p.Leu1100Pro)
n.3707T>C
n.772T>C
n.4278T>C
n.4634T>C
c.3203T>C (p.Leu1068Pro)
c.*3349T>C (n.*3349T>C)
c.*3272T>C (n.*3272T>C)
c.*3577T>C (n.*3577T>C)
c.*3308T>C (n.*3308T>C)
c.2909T>C (p.Leu970Pro)
c.2205T>C
c.3260T>C (p.Leu1087Pro)
c.2239T>C
c.1194T>C
n.2544T>C
n.271T>C
n.8T>C
n.3367T>C
c.3377T>C (p.Leu1126Pro)
c.3356T>C (p.Leu1119Pro)
c.3338T>C (p.Leu1113Pro)
c.3320T>C (p.Leu1107Pro)
c.3281T>C (p.Leu1094Pro)
c.3242T>C (p.Leu1081Pro)
c.2966T>C (p.Leu989Pro)
c.2927T>C (p.Leu976Pro)
c.3317T>C (p.Leu1106Pro)
c.3224T>C (p.Leu1075Pro)
c.2699T>C (p.Leu900Pro)
c.3014T>C (p.Leu1005Pro)
n.7586T>C
 COSMIC COSMIC
3g.9473243T>GCA351684611SETD5n.1673T>G
c.3299T>G (p.Leu1100Arg)
n.3707T>G
n.772T>G
n.4278T>G
n.4634T>G
c.3203T>G (p.Leu1068Arg)
c.*3349T>G (n.*3349T>G)
c.*3272T>G (n.*3272T>G)
c.*3577T>G (n.*3577T>G)
c.*3308T>G (n.*3308T>G)
c.2909T>G (p.Leu970Arg)
c.2205T>G
c.3260T>G (p.Leu1087Arg)
c.2239T>G
c.1194T>G
n.2544T>G
n.271T>G
n.8T>G
n.3367T>G
c.3377T>G (p.Leu1126Arg)
c.3356T>G (p.Leu1119Arg)
c.3338T>G (p.Leu1113Arg)
c.3320T>G (p.Leu1107Arg)
c.3281T>G (p.Leu1094Arg)
c.3242T>G (p.Leu1081Arg)
c.2966T>G (p.Leu989Arg)
c.2927T>G (p.Leu976Arg)
c.3317T>G (p.Leu1106Arg)
c.3224T>G (p.Leu1075Arg)
c.2699T>G (p.Leu900Arg)
c.3014T>G (p.Leu1005Arg)
n.7586T>G
3g.9473244G>ACA432365696SETD5n.1674G>A
c.3300G>A (p.Leu1100=)
n.3708G>A
n.773G>A
n.4279G>A
n.4635G>A
c.3204G>A (p.Leu1068=)
c.*3350G>A (n.*3350G>A)
c.*3273G>A (n.*3273G>A)
c.*3578G>A (n.*3578G>A)
c.*3309G>A (n.*3309G>A)
c.2910G>A (p.Leu970=)
c.2206G>A
c.3261G>A (p.Leu1087=)
c.2240G>A
c.1195G>A
n.2545G>A
n.272G>A
n.9G>A
n.3368G>A
c.3378G>A (p.Leu1126=)
c.3357G>A (p.Leu1119=)
c.3339G>A (p.Leu1113=)
c.3321G>A (p.Leu1107=)
c.3282G>A (p.Leu1094=)
c.3243G>A (p.Leu1081=)
c.2967G>A (p.Leu989=)
c.2928G>A (p.Leu976=)
c.3318G>A (p.Leu1106=)
c.3225G>A (p.Leu1075=)
c.2700G>A (p.Leu900=)
c.3015G>A (p.Leu1005=)
n.7587G>A
 gnomAD v4
3g.9473244G>CCA432365694SETD5n.1674G>C
c.3300G>C (p.Leu1100=)
n.3708G>C
n.773G>C
n.4279G>C
n.4635G>C
c.3204G>C (p.Leu1068=)
c.*3350G>C (n.*3350G>C)
c.*3273G>C (n.*3273G>C)
c.*3578G>C (n.*3578G>C)
c.*3309G>C (n.*3309G>C)
c.2910G>C (p.Leu970=)
c.2206G>C
c.3261G>C (p.Leu1087=)
c.2240G>C
c.1195G>C
n.2545G>C
n.272G>C
n.9G>C
n.3368G>C
c.3378G>C (p.Leu1126=)
c.3357G>C (p.Leu1119=)
c.3339G>C (p.Leu1113=)
c.3321G>C (p.Leu1107=)
c.3282G>C (p.Leu1094=)
c.3243G>C (p.Leu1081=)
c.2967G>C (p.Leu989=)
c.2928G>C (p.Leu976=)
c.3318G>C (p.Leu1106=)
c.3225G>C (p.Leu1075=)
c.2700G>C (p.Leu900=)
c.3015G>C (p.Leu1005=)
n.7587G>C
3g.9473244G>TCA432365693SETD5n.1674G>T
c.3300G>T (p.Leu1100=)
n.3708G>T
n.773G>T
n.4279G>T
n.4635G>T
c.3204G>T (p.Leu1068=)
c.*3350G>T (n.*3350G>T)
c.*3273G>T (n.*3273G>T)
c.*3578G>T (n.*3578G>T)
c.*3309G>T (n.*3309G>T)
c.2910G>T (p.Leu970=)
c.2206G>T
c.3261G>T (p.Leu1087=)
c.2240G>T
c.1195G>T
n.2545G>T
n.272G>T
n.9G>T
n.3368G>T
c.3378G>T (p.Leu1126=)
c.3357G>T (p.Leu1119=)
c.3339G>T (p.Leu1113=)
c.3321G>T (p.Leu1107=)
c.3282G>T (p.Leu1094=)
c.3243G>T (p.Leu1081=)
c.2967G>T (p.Leu989=)
c.2928G>T (p.Leu976=)
c.3318G>T (p.Leu1106=)
c.3225G>T (p.Leu1075=)
c.2700G>T (p.Leu900=)
c.3015G>T (p.Leu1005=)
n.7587G>T
3g.9473245C>ACA351684623SETD5n.1675C>A
c.3301C>A (p.Leu1101Met)
n.3709C>A
n.774C>A
n.4280C>A
n.4636C>A
c.3205C>A (p.Leu1069Met)
c.*3351C>A (n.*3351C>A)
c.*3274C>A (n.*3274C>A)
c.*3579C>A (n.*3579C>A)
c.*3310C>A (n.*3310C>A)
c.2911C>A (p.Leu971Met)
c.2207C>A
c.3262C>A (p.Leu1088Met)
c.2241C>A
c.1196C>A
n.2546C>A
n.273C>A
n.10C>A
n.3369C>A
c.3379C>A (p.Leu1127Met)
c.3358C>A (p.Leu1120Met)
c.3340C>A (p.Leu1114Met)
c.3322C>A (p.Leu1108Met)
c.3283C>A (p.Leu1095Met)
c.3244C>A (p.Leu1082Met)
c.2968C>A (p.Leu990Met)
c.2929C>A (p.Leu977Met)
c.3319C>A (p.Leu1107Met)
c.3226C>A (p.Leu1076Met)
c.2701C>A (p.Leu901Met)
c.3016C>A (p.Leu1006Met)
n.7588C>A
3g.9473245C>GCA351684617SETD5n.1675C>G
c.3301C>G (p.Leu1101Val)
n.3709C>G
n.774C>G
n.4280C>G
n.4636C>G
c.3205C>G (p.Leu1069Val)
c.*3351C>G (n.*3351C>G)
c.*3274C>G (n.*3274C>G)
c.*3579C>G (n.*3579C>G)
c.*3310C>G (n.*3310C>G)
c.2911C>G (p.Leu971Val)
c.2207C>G
c.3262C>G (p.Leu1088Val)
c.2241C>G
c.1196C>G
n.2546C>G
n.273C>G
n.10C>G
n.3369C>G
c.3379C>G (p.Leu1127Val)
c.3358C>G (p.Leu1120Val)
c.3340C>G (p.Leu1114Val)
c.3322C>G (p.Leu1108Val)
c.3283C>G (p.Leu1095Val)
c.3244C>G (p.Leu1082Val)
c.2968C>G (p.Leu990Val)
c.2929C>G (p.Leu977Val)
c.3319C>G (p.Leu1107Val)
c.3226C>G (p.Leu1076Val)
c.2701C>G (p.Leu901Val)
c.3016C>G (p.Leu1006Val)
n.7588C>G
3g.9473245C>TCA432365697SETD5n.1675C>T
c.3301C>T (p.Leu1101=)
n.3709C>T
n.774C>T
n.4280C>T
n.4636C>T
c.3205C>T (p.Leu1069=)
c.*3351C>T (n.*3351C>T)
c.*3274C>T (n.*3274C>T)
c.*3579C>T (n.*3579C>T)
c.*3310C>T (n.*3310C>T)
c.2911C>T (p.Leu971=)
c.2207C>T
c.3262C>T (p.Leu1088=)
c.2241C>T
c.1196C>T
n.2546C>T
n.273C>T
n.10C>T
n.3369C>T
c.3379C>T (p.Leu1127=)
c.3358C>T (p.Leu1120=)
c.3340C>T (p.Leu1114=)
c.3322C>T (p.Leu1108=)
c.3283C>T (p.Leu1095=)
c.3244C>T (p.Leu1082=)
c.2968C>T (p.Leu990=)
c.2929C>T (p.Leu977=)
c.3319C>T (p.Leu1107=)
c.3226C>T (p.Leu1076=)
c.2701C>T (p.Leu901=)
c.3016C>T (p.Leu1006=)
n.7588C>T
3g.9473246T>ACA351684631SETD5n.1676T>A
c.3302T>A (p.Leu1101Gln)
n.3710T>A
n.775T>A
n.4281T>A
n.4637T>A
c.3206T>A (p.Leu1069Gln)
c.*3352T>A (n.*3352T>A)
c.*3275T>A (n.*3275T>A)
c.*3580T>A (n.*3580T>A)
c.*3311T>A (n.*3311T>A)
c.2912T>A (p.Leu971Gln)
c.2208T>A
c.3263T>A (p.Leu1088Gln)
c.2242T>A
c.1197T>A
n.2547T>A
n.274T>A
n.11T>A
n.3370T>A
c.3380T>A (p.Leu1127Gln)
c.3359T>A (p.Leu1120Gln)
c.3341T>A (p.Leu1114Gln)
c.3323T>A (p.Leu1108Gln)
c.3284T>A (p.Leu1095Gln)
c.3245T>A (p.Leu1082Gln)
c.2969T>A (p.Leu990Gln)
c.2930T>A (p.Leu977Gln)
c.3320T>A (p.Leu1107Gln)
c.3227T>A (p.Leu1076Gln)
c.2702T>A (p.Leu901Gln)
c.3017T>A (p.Leu1006Gln)
n.7589T>A
3g.9473246T>CCA351684634SETD5n.1676T>C
c.3302T>C (p.Leu1101Pro)
n.3710T>C
n.775T>C
n.4281T>C
n.4637T>C
c.3206T>C (p.Leu1069Pro)
c.*3352T>C (n.*3352T>C)
c.*3275T>C (n.*3275T>C)
c.*3580T>C (n.*3580T>C)
c.*3311T>C (n.*3311T>C)
c.2912T>C (p.Leu971Pro)
c.2208T>C
c.3263T>C (p.Leu1088Pro)
c.2242T>C
c.1197T>C
n.2547T>C
n.274T>C
n.11T>C
n.3370T>C
c.3380T>C (p.Leu1127Pro)
c.3359T>C (p.Leu1120Pro)
c.3341T>C (p.Leu1114Pro)
c.3323T>C (p.Leu1108Pro)
c.3284T>C (p.Leu1095Pro)
c.3245T>C (p.Leu1082Pro)
c.2969T>C (p.Leu990Pro)
c.2930T>C (p.Leu977Pro)
c.3320T>C (p.Leu1107Pro)
c.3227T>C (p.Leu1076Pro)
c.2702T>C (p.Leu901Pro)
c.3017T>C (p.Leu1006Pro)
n.7589T>C
3g.9473246T>GCA351684638SETD5n.1676T>G
c.3302T>G (p.Leu1101Arg)
n.3710T>G
n.775T>G
n.4281T>G
n.4637T>G
c.3206T>G (p.Leu1069Arg)
c.*3352T>G (n.*3352T>G)
c.*3275T>G (n.*3275T>G)
c.*3580T>G (n.*3580T>G)
c.*3311T>G (n.*3311T>G)
c.2912T>G (p.Leu971Arg)
c.2208T>G
c.3263T>G (p.Leu1088Arg)
c.2242T>G
c.1197T>G
n.2547T>G
n.274T>G
n.11T>G
n.3370T>G
c.3380T>G (p.Leu1127Arg)
c.3359T>G (p.Leu1120Arg)
c.3341T>G (p.Leu1114Arg)
c.3323T>G (p.Leu1108Arg)
c.3284T>G (p.Leu1095Arg)
c.3245T>G (p.Leu1082Arg)
c.2969T>G (p.Leu990Arg)
c.2930T>G (p.Leu977Arg)
c.3320T>G (p.Leu1107Arg)
c.3227T>G (p.Leu1076Arg)
c.2702T>G (p.Leu901Arg)
c.3017T>G (p.Leu1006Arg)
n.7589T>G
3g.9473247G>ACA432365698SETD5n.1677G>A
c.3303G>A (p.Leu1101=)
n.3711G>A
n.776G>A
n.4282G>A
n.4638G>A
c.3207G>A (p.Leu1069=)
c.*3353G>A (n.*3353G>A)
c.*3276G>A (n.*3276G>A)
c.*3581G>A (n.*3581G>A)
c.*3312G>A (n.*3312G>A)
c.2913G>A (p.Leu971=)
c.2209G>A
c.3264G>A (p.Leu1088=)
c.2243G>A
c.1198G>A
n.2548G>A
n.275G>A
n.12G>A
n.3371G>A
c.3381G>A (p.Leu1127=)
c.3360G>A (p.Leu1120=)
c.3342G>A (p.Leu1114=)
c.3324G>A (p.Leu1108=)
c.3285G>A (p.Leu1095=)
c.3246G>A (p.Leu1082=)
c.2970G>A (p.Leu990=)
c.2931G>A (p.Leu977=)
c.3321G>A (p.Leu1107=)
c.3228G>A (p.Leu1076=)
c.2703G>A (p.Leu901=)
c.3018G>A (p.Leu1006=)
n.7590G>A
 dbSNP
3g.9473247G>CCA432365700SETD5n.1677G>C
c.3303G>C (p.Leu1101=)
n.3711G>C
n.776G>C
n.4282G>C
n.4638G>C
c.3207G>C (p.Leu1069=)
c.*3353G>C (n.*3353G>C)
c.*3276G>C (n.*3276G>C)
c.*3581G>C (n.*3581G>C)
c.*3312G>C (n.*3312G>C)
c.2913G>C (p.Leu971=)
c.2209G>C
c.3264G>C (p.Leu1088=)
c.2243G>C
c.1198G>C
n.2548G>C
n.275G>C
n.12G>C
n.3371G>C
c.3381G>C (p.Leu1127=)
c.3360G>C (p.Leu1120=)
c.3342G>C (p.Leu1114=)
c.3324G>C (p.Leu1108=)
c.3285G>C (p.Leu1095=)
c.3246G>C (p.Leu1082=)
c.2970G>C (p.Leu990=)
c.2931G>C (p.Leu977=)
c.3321G>C (p.Leu1107=)
c.3228G>C (p.Leu1076=)
c.2703G>C (p.Leu901=)
c.3018G>C (p.Leu1006=)
n.7590G>C
3g.9473247G=CA1344740010SETD5n.1677G=
c.3303G= (p.Leu1101=)
n.3711G=
n.776G=
n.4282G=
n.4638G=
c.3207G= (p.Leu1069=)
c.*3353G= (n.*3353G=)
c.*3276G= (n.*3276G=)
c.*3581G= (n.*3581G=)
c.*3312G= (n.*3312G=)
c.2913G= (p.Leu971=)
c.2209G=
c.3264G= (p.Leu1088=)
c.2243G=
c.1198G=
n.2548G=
n.275G=
n.12G=
n.3371G=
c.3381G= (p.Leu1127=)
c.3360G= (p.Leu1120=)
c.3342G= (p.Leu1114=)
c.3324G= (p.Leu1108=)
c.3285G= (p.Leu1095=)
c.3246G= (p.Leu1082=)
c.2970G= (p.Leu990=)
c.2931G= (p.Leu977=)
c.3321G= (p.Leu1107=)
c.3228G= (p.Leu1076=)
c.2703G= (p.Leu901=)
c.3018G= (p.Leu1006=)
n.7590G=
3g.9473247G>TCA432365699SETD5n.1677G>T
c.3303G>T (p.Leu1101=)
n.3711G>T
n.776G>T
n.4282G>T
n.4638G>T
c.3207G>T (p.Leu1069=)
c.*3353G>T (n.*3353G>T)
c.*3276G>T (n.*3276G>T)
c.*3581G>T (n.*3581G>T)
c.*3312G>T (n.*3312G>T)
c.2913G>T (p.Leu971=)
c.2209G>T
c.3264G>T (p.Leu1088=)
c.2243G>T
c.1198G>T
n.2548G>T
n.275G>T
n.12G>T
n.3371G>T
c.3381G>T (p.Leu1127=)
c.3360G>T (p.Leu1120=)
c.3342G>T (p.Leu1114=)
c.3324G>T (p.Leu1108=)
c.3285G>T (p.Leu1095=)
c.3246G>T (p.Leu1082=)
c.2970G>T (p.Leu990=)
c.2931G>T (p.Leu977=)
c.3321G>T (p.Leu1107=)
c.3228G>T (p.Leu1076=)
c.2703G>T (p.Leu901=)
c.3018G>T (p.Leu1006=)
n.7590G>T
3g.9473248G>ACA351684643SETD5n.1678G>A
c.3304G>A (p.Glu1102Lys)
n.3712G>A
n.777G>A
n.4283G>A
n.4639G>A
c.3208G>A (p.Glu1070Lys)
c.*3354G>A (n.*3354G>A)
c.*3277G>A (n.*3277G>A)
c.*3582G>A (n.*3582G>A)
c.*3313G>A (n.*3313G>A)
c.2914G>A (p.Glu972Lys)
c.2210G>A
c.3265G>A (p.Glu1089Lys)
c.2244G>A
c.1199G>A
n.2549G>A
n.276G>A
n.13G>A
n.3372G>A
c.3382G>A (p.Glu1128Lys)
c.3361G>A (p.Glu1121Lys)
c.3343G>A (p.Glu1115Lys)
c.3325G>A (p.Glu1109Lys)
c.3286G>A (p.Glu1096Lys)
c.3247G>A (p.Glu1083Lys)
c.2971G>A (p.Glu991Lys)
c.2932G>A (p.Glu978Lys)
c.3322G>A (p.Glu1108Lys)
c.3229G>A (p.Glu1077Lys)
c.2704G>A (p.Glu902Lys)
c.3019G>A (p.Glu1007Lys)
n.7591G>A
3g.9473248G>CCA351684646SETD5n.1678G>C
c.3304G>C (p.Glu1102Gln)
n.3712G>C
n.777G>C
n.4283G>C
n.4639G>C
c.3208G>C (p.Glu1070Gln)
c.*3354G>C (n.*3354G>C)
c.*3277G>C (n.*3277G>C)
c.*3582G>C (n.*3582G>C)
c.*3313G>C (n.*3313G>C)
c.2914G>C (p.Glu972Gln)
c.2210G>C
c.3265G>C (p.Glu1089Gln)
c.2244G>C
c.1199G>C
n.2549G>C
n.276G>C
n.13G>C
n.3372G>C
c.3382G>C (p.Glu1128Gln)
c.3361G>C (p.Glu1121Gln)
c.3343G>C (p.Glu1115Gln)
c.3325G>C (p.Glu1109Gln)
c.3286G>C (p.Glu1096Gln)
c.3247G>C (p.Glu1083Gln)
c.2971G>C (p.Glu991Gln)
c.2932G>C (p.Glu978Gln)
c.3322G>C (p.Glu1108Gln)
c.3229G>C (p.Glu1077Gln)
c.2704G>C (p.Glu902Gln)
c.3019G>C (p.Glu1007Gln)
n.7591G>C
3g.9473248G>TCA351684653SETD5n.1678G>T
c.3304G>T (p.Glu1102Ter)
n.3712G>T
n.777G>T
n.4283G>T
n.4639G>T
c.3208G>T (p.Glu1070Ter)
c.*3354G>T (n.*3354G>T)
c.*3277G>T (n.*3277G>T)
c.*3582G>T (n.*3582G>T)
c.*3313G>T (n.*3313G>T)
c.2914G>T (p.Glu972Ter)
c.2210G>T
c.3265G>T (p.Glu1089Ter)
c.2244G>T
c.1199G>T
n.2549G>T
n.276G>T
n.13G>T
n.3372G>T
c.3382G>T (p.Glu1128Ter)
c.3361G>T (p.Glu1121Ter)
c.3343G>T (p.Glu1115Ter)
c.3325G>T (p.Glu1109Ter)
c.3286G>T (p.Glu1096Ter)
c.3247G>T (p.Glu1083Ter)
c.2971G>T (p.Glu991Ter)
c.2932G>T (p.Glu978Ter)
c.3322G>T (p.Glu1108Ter)
c.3229G>T (p.Glu1077Ter)
c.2704G>T (p.Glu902Ter)
c.3019G>T (p.Glu1007Ter)
n.7591G>T
 COSMIC COSMIC
3g.9473249A>CCA351684666SETD5n.1679A>C
c.3305A>C (p.Glu1102Ala)
n.3713A>C
n.778A>C
n.4284A>C
n.4640A>C
c.3209A>C (p.Glu1070Ala)
c.*3355A>C (n.*3355A>C)
c.*3278A>C (n.*3278A>C)
c.*3583A>C (n.*3583A>C)
c.*3314A>C (n.*3314A>C)
c.2915A>C (p.Glu972Ala)
c.2211A>C
c.3266A>C (p.Glu1089Ala)
c.2245A>C
c.1200A>C
n.2550A>C
n.277A>C
n.14A>C
n.3373A>C
c.3383A>C (p.Glu1128Ala)
c.3362A>C (p.Glu1121Ala)
c.3344A>C (p.Glu1115Ala)
c.3326A>C (p.Glu1109Ala)
c.3287A>C (p.Glu1096Ala)
c.3248A>C (p.Glu1083Ala)
c.2972A>C (p.Glu991Ala)
c.2933A>C (p.Glu978Ala)
c.3323A>C (p.Glu1108Ala)
c.3230A>C (p.Glu1077Ala)
c.2705A>C (p.Glu902Ala)
c.3020A>C (p.Glu1007Ala)
n.7592A>C
3g.9473249A>GCA351684660SETD5n.1679A>G
c.3305A>G (p.Glu1102Gly)
n.3713A>G
n.778A>G
n.4284A>G
n.4640A>G
c.3209A>G (p.Glu1070Gly)
c.*3355A>G (n.*3355A>G)
c.*3278A>G (n.*3278A>G)
c.*3583A>G (n.*3583A>G)
c.*3314A>G (n.*3314A>G)
c.2915A>G (p.Glu972Gly)
c.2211A>G
c.3266A>G (p.Glu1089Gly)
c.2245A>G
c.1200A>G
n.2550A>G
n.277A>G
n.14A>G
n.3373A>G
c.3383A>G (p.Glu1128Gly)
c.3362A>G (p.Glu1121Gly)
c.3344A>G (p.Glu1115Gly)
c.3326A>G (p.Glu1109Gly)
c.3287A>G (p.Glu1096Gly)
c.3248A>G (p.Glu1083Gly)
c.2972A>G (p.Glu991Gly)
c.2933A>G (p.Glu978Gly)
c.3323A>G (p.Glu1108Gly)
c.3230A>G (p.Glu1077Gly)
c.2705A>G (p.Glu902Gly)
c.3020A>G (p.Glu1007Gly)
n.7592A>G
3g.9473249A>TCA351684664SETD5n.1679A>T
c.3305A>T (p.Glu1102Val)
n.3713A>T
n.778A>T
n.4284A>T
n.4640A>T
c.3209A>T (p.Glu1070Val)
c.*3355A>T (n.*3355A>T)
c.*3278A>T (n.*3278A>T)
c.*3583A>T (n.*3583A>T)
c.*3314A>T (n.*3314A>T)
c.2915A>T (p.Glu972Val)
c.2211A>T
c.3266A>T (p.Glu1089Val)
c.2245A>T
c.1200A>T
n.2550A>T
n.277A>T
n.14A>T
n.3373A>T
c.3383A>T (p.Glu1128Val)
c.3362A>T (p.Glu1121Val)
c.3344A>T (p.Glu1115Val)
c.3326A>T (p.Glu1109Val)
c.3287A>T (p.Glu1096Val)
c.3248A>T (p.Glu1083Val)
c.2972A>T (p.Glu991Val)
c.2933A>T (p.Glu978Val)
c.3323A>T (p.Glu1108Val)
c.3230A>T (p.Glu1077Val)
c.2705A>T (p.Glu902Val)
c.3020A>T (p.Glu1007Val)
n.7592A>T
3g.9473250G>ACA2239641SETD5n.1680G>A
c.3306G>A (p.Glu1102=)
n.3714G>A
n.779G>A
n.4285G>A
n.4641G>A
c.3210G>A (p.Glu1070=)
c.*3356G>A (n.*3356G>A)
c.*3279G>A (n.*3279G>A)
c.*3584G>A (n.*3584G>A)
c.*3315G>A (n.*3315G>A)
c.2916G>A (p.Glu972=)
c.2212G>A
c.3267G>A (p.Glu1089=)
c.2246G>A
c.1201G>A
n.2551G>A
n.278G>A
n.15G>A
n.3374G>A
c.3384G>A (p.Glu1128=)
c.3363G>A (p.Glu1121=)
c.3345G>A (p.Glu1115=)
c.3327G>A (p.Glu1109=)
c.3288G>A (p.Glu1096=)
c.3249G>A (p.Glu1083=)
c.2973G>A (p.Glu991=)
c.2934G>A (p.Glu978=)
c.3324G>A (p.Glu1108=)
c.3231G>A (p.Glu1077=)
c.2706G>A (p.Glu902=)
c.3021G>A (p.Glu1007=)
n.7593G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473250G>CCA351684667SETD5n.1680G>C
c.3306G>C (p.Glu1102Asp)
n.3714G>C
n.779G>C
n.4285G>C
n.4641G>C
c.3210G>C (p.Glu1070Asp)
c.*3356G>C (n.*3356G>C)
c.*3279G>C (n.*3279G>C)
c.*3584G>C (n.*3584G>C)
c.*3315G>C (n.*3315G>C)
c.2916G>C (p.Glu972Asp)
c.2212G>C
c.3267G>C (p.Glu1089Asp)
c.2246G>C
c.1201G>C
n.2551G>C
n.278G>C
n.15G>C
n.3374G>C
c.3384G>C (p.Glu1128Asp)
c.3363G>C (p.Glu1121Asp)
c.3345G>C (p.Glu1115Asp)
c.3327G>C (p.Glu1109Asp)
c.3288G>C (p.Glu1096Asp)
c.3249G>C (p.Glu1083Asp)
c.2973G>C (p.Glu991Asp)
c.2934G>C (p.Glu978Asp)
c.3324G>C (p.Glu1108Asp)
c.3231G>C (p.Glu1077Asp)
c.2706G>C (p.Glu902Asp)
c.3021G>C (p.Glu1007Asp)
n.7593G>C
3g.9473250G=CA1344740017SETD5n.1680G=
c.3306G= (p.Glu1102=)
n.3714G=
n.779G=
n.4285G=
n.4641G=
c.3210G= (p.Glu1070=)
c.*3356G= (n.*3356G=)
c.*3279G= (n.*3279G=)
c.*3584G= (n.*3584G=)
c.*3315G= (n.*3315G=)
c.2916G= (p.Glu972=)
c.2212G=
c.3267G= (p.Glu1089=)
c.2246G=
c.1201G=
n.2551G=
n.278G=
n.15G=
n.3374G=
c.3384G= (p.Glu1128=)
c.3363G= (p.Glu1121=)
c.3345G= (p.Glu1115=)
c.3327G= (p.Glu1109=)
c.3288G= (p.Glu1096=)
c.3249G= (p.Glu1083=)
c.2973G= (p.Glu991=)
c.2934G= (p.Glu978=)
c.3324G= (p.Glu1108=)
c.3231G= (p.Glu1077=)
c.2706G= (p.Glu902=)
c.3021G= (p.Glu1007=)
n.7593G=
3g.9473250G>TCA351684671SETD5n.1680G>T
c.3306G>T (p.Glu1102Asp)
n.3714G>T
n.779G>T
n.4285G>T
n.4641G>T
c.3210G>T (p.Glu1070Asp)
c.*3356G>T (n.*3356G>T)
c.*3279G>T (n.*3279G>T)
c.*3584G>T (n.*3584G>T)
c.*3315G>T (n.*3315G>T)
c.2916G>T (p.Glu972Asp)
c.2212G>T
c.3267G>T (p.Glu1089Asp)
c.2246G>T
c.1201G>T
n.2551G>T
n.278G>T
n.15G>T
n.3374G>T
c.3384G>T (p.Glu1128Asp)
c.3363G>T (p.Glu1121Asp)
c.3345G>T (p.Glu1115Asp)
c.3327G>T (p.Glu1109Asp)
c.3288G>T (p.Glu1096Asp)
c.3249G>T (p.Glu1083Asp)
c.2973G>T (p.Glu991Asp)
c.2934G>T (p.Glu978Asp)
c.3324G>T (p.Glu1108Asp)
c.3231G>T (p.Glu1077Asp)
c.2706G>T (p.Glu902Asp)
c.3021G>T (p.Glu1007Asp)
n.7593G>T
3g.9473251T>ACA351684687SETD5n.1681T>A
c.3307T>A (p.Tyr1103Asn)
n.3715T>A
n.780T>A
n.4286T>A
n.4642T>A
c.3211T>A (p.Tyr1071Asn)
c.*3357T>A (n.*3357T>A)
c.*3280T>A (n.*3280T>A)
c.*3585T>A (n.*3585T>A)
c.*3316T>A (n.*3316T>A)
c.2917T>A (p.Tyr973Asn)
c.2213T>A
c.3268T>A (p.Tyr1090Asn)
c.2247T>A
c.1202T>A
n.2552T>A
n.279T>A
n.16T>A
n.3375T>A
c.3385T>A (p.Tyr1129Asn)
c.3364T>A (p.Tyr1122Asn)
c.3346T>A (p.Tyr1116Asn)
c.3328T>A (p.Tyr1110Asn)
c.3289T>A (p.Tyr1097Asn)
c.3250T>A (p.Tyr1084Asn)
c.2974T>A (p.Tyr992Asn)
c.2935T>A (p.Tyr979Asn)
c.3325T>A (p.Tyr1109Asn)
c.3232T>A (p.Tyr1078Asn)
c.2707T>A (p.Tyr903Asn)
c.3022T>A (p.Tyr1008Asn)
n.7594T>A
3g.9473251T>CCA351684696SETD5n.1681T>C
c.3307T>C (p.Tyr1103His)
n.3715T>C
n.780T>C
n.4286T>C
n.4642T>C
c.3211T>C (p.Tyr1071His)
c.*3357T>C (n.*3357T>C)
c.*3280T>C (n.*3280T>C)
c.*3585T>C (n.*3585T>C)
c.*3316T>C (n.*3316T>C)
c.2917T>C (p.Tyr973His)
c.2213T>C
c.3268T>C (p.Tyr1090His)
c.2247T>C
c.1202T>C
n.2552T>C
n.279T>C
n.16T>C
n.3375T>C
c.3385T>C (p.Tyr1129His)
c.3364T>C (p.Tyr1122His)
c.3346T>C (p.Tyr1116His)
c.3328T>C (p.Tyr1110His)
c.3289T>C (p.Tyr1097His)
c.3250T>C (p.Tyr1084His)
c.2974T>C (p.Tyr992His)
c.2935T>C (p.Tyr979His)
c.3325T>C (p.Tyr1109His)
c.3232T>C (p.Tyr1078His)
c.2707T>C (p.Tyr903His)
c.3022T>C (p.Tyr1008His)
n.7594T>C
3g.9473251T>GCA351684705SETD5n.1681T>G
c.3307T>G (p.Tyr1103Asp)
n.3715T>G
n.780T>G
n.4286T>G
n.4642T>G
c.3211T>G (p.Tyr1071Asp)
c.*3357T>G (n.*3357T>G)
c.*3280T>G (n.*3280T>G)
c.*3585T>G (n.*3585T>G)
c.*3316T>G (n.*3316T>G)
c.2917T>G (p.Tyr973Asp)
c.2213T>G
c.3268T>G (p.Tyr1090Asp)
c.2247T>G
c.1202T>G
n.2552T>G
n.279T>G
n.16T>G
n.3375T>G
c.3385T>G (p.Tyr1129Asp)
c.3364T>G (p.Tyr1122Asp)
c.3346T>G (p.Tyr1116Asp)
c.3328T>G (p.Tyr1110Asp)
c.3289T>G (p.Tyr1097Asp)
c.3250T>G (p.Tyr1084Asp)
c.2974T>G (p.Tyr992Asp)
c.2935T>G (p.Tyr979Asp)
c.3325T>G (p.Tyr1109Asp)
c.3232T>G (p.Tyr1078Asp)
c.2707T>G (p.Tyr903Asp)
c.3022T>G (p.Tyr1008Asp)
n.7594T>G
3g.9473252A>CCA351684709SETD5n.1682A>C
c.3308A>C (p.Tyr1103Ser)
n.3716A>C
n.781A>C
n.4287A>C
n.4643A>C
c.3212A>C (p.Tyr1071Ser)
c.*3358A>C (n.*3358A>C)
c.*3281A>C (n.*3281A>C)
c.*3586A>C (n.*3586A>C)
c.*3317A>C (n.*3317A>C)
c.2918A>C (p.Tyr973Ser)
c.2214A>C
c.3269A>C (p.Tyr1090Ser)
c.2248A>C
c.1203A>C
n.2553A>C
n.280A>C
n.17A>C
n.3376A>C
c.3386A>C (p.Tyr1129Ser)
c.3365A>C (p.Tyr1122Ser)
c.3347A>C (p.Tyr1116Ser)
c.3329A>C (p.Tyr1110Ser)
c.3290A>C (p.Tyr1097Ser)
c.3251A>C (p.Tyr1084Ser)
c.2975A>C (p.Tyr992Ser)
c.2936A>C (p.Tyr979Ser)
c.3326A>C (p.Tyr1109Ser)
c.3233A>C (p.Tyr1078Ser)
c.2708A>C (p.Tyr903Ser)
c.3023A>C (p.Tyr1008Ser)
n.7595A>C
3g.9473252A>GCA351684711SETD5n.1682A>G
c.3308A>G (p.Tyr1103Cys)
n.3716A>G
n.781A>G
n.4287A>G
n.4643A>G
c.3212A>G (p.Tyr1071Cys)
c.*3358A>G (n.*3358A>G)
c.*3281A>G (n.*3281A>G)
c.*3586A>G (n.*3586A>G)
c.*3317A>G (n.*3317A>G)
c.2918A>G (p.Tyr973Cys)
c.2214A>G
c.3269A>G (p.Tyr1090Cys)
c.2248A>G
c.1203A>G
n.2553A>G
n.280A>G
n.17A>G
n.3376A>G
c.3386A>G (p.Tyr1129Cys)
c.3365A>G (p.Tyr1122Cys)
c.3347A>G (p.Tyr1116Cys)
c.3329A>G (p.Tyr1110Cys)
c.3290A>G (p.Tyr1097Cys)
c.3251A>G (p.Tyr1084Cys)
c.2975A>G (p.Tyr992Cys)
c.2936A>G (p.Tyr979Cys)
c.3326A>G (p.Tyr1109Cys)
c.3233A>G (p.Tyr1078Cys)
c.2708A>G (p.Tyr903Cys)
c.3023A>G (p.Tyr1008Cys)
n.7595A>G
3g.9473252A>TCA351684713SETD5n.1682A>T
c.3308A>T (p.Tyr1103Phe)
n.3716A>T
n.781A>T
n.4287A>T
n.4643A>T
c.3212A>T (p.Tyr1071Phe)
c.*3358A>T (n.*3358A>T)
c.*3281A>T (n.*3281A>T)
c.*3586A>T (n.*3586A>T)
c.*3317A>T (n.*3317A>T)
c.2918A>T (p.Tyr973Phe)
c.2214A>T
c.3269A>T (p.Tyr1090Phe)
c.2248A>T
c.1203A>T
n.2553A>T
n.280A>T
n.17A>T
n.3376A>T
c.3386A>T (p.Tyr1129Phe)
c.3365A>T (p.Tyr1122Phe)
c.3347A>T (p.Tyr1116Phe)
c.3329A>T (p.Tyr1110Phe)
c.3290A>T (p.Tyr1097Phe)
c.3251A>T (p.Tyr1084Phe)
c.2975A>T (p.Tyr992Phe)
c.2936A>T (p.Tyr979Phe)
c.3326A>T (p.Tyr1109Phe)
c.3233A>T (p.Tyr1078Phe)
c.2708A>T (p.Tyr903Phe)
c.3023A>T (p.Tyr1008Phe)
n.7595A>T
3g.9473253C>ACA351684718SETD5n.1683C>A
c.3309C>A (p.Tyr1103Ter)
n.3717C>A
n.782C>A
n.4288C>A
n.4644C>A
c.3213C>A (p.Tyr1071Ter)
c.*3359C>A (n.*3359C>A)
c.*3282C>A (n.*3282C>A)
c.*3587C>A (n.*3587C>A)
c.*3318C>A (n.*3318C>A)
c.2919C>A (p.Tyr973Ter)
c.2215C>A
c.3270C>A (p.Tyr1090Ter)
c.2249C>A
c.1204C>A
n.2554C>A
n.281C>A
n.18C>A
n.3377C>A
c.3387C>A (p.Tyr1129Ter)
c.3366C>A (p.Tyr1122Ter)
c.3348C>A (p.Tyr1116Ter)
c.3330C>A (p.Tyr1110Ter)
c.3291C>A (p.Tyr1097Ter)
c.3252C>A (p.Tyr1084Ter)
c.2976C>A (p.Tyr992Ter)
c.2937C>A (p.Tyr979Ter)
c.3327C>A (p.Tyr1109Ter)
c.3234C>A (p.Tyr1078Ter)
c.2709C>A (p.Tyr903Ter)
c.3024C>A (p.Tyr1008Ter)
n.7596C>A
3g.9473253C=CA1344740020SETD5n.1683C=
c.3309C= (p.Tyr1103=)
n.3717C=
n.782C=
n.4288C=
n.4644C=
c.3213C= (p.Tyr1071=)
c.*3359C= (n.*3359C=)
c.*3282C= (n.*3282C=)
c.*3587C= (n.*3587C=)
c.*3318C= (n.*3318C=)
c.2919C= (p.Tyr973=)
c.2215C=
c.3270C= (p.Tyr1090=)
c.2249C=
c.1204C=
n.2554C=
n.281C=
n.18C=
n.3377C=
c.3387C= (p.Tyr1129=)
c.3366C= (p.Tyr1122=)
c.3348C= (p.Tyr1116=)
c.3330C= (p.Tyr1110=)
c.3291C= (p.Tyr1097=)
c.3252C= (p.Tyr1084=)
c.2976C= (p.Tyr992=)
c.2937C= (p.Tyr979=)
c.3327C= (p.Tyr1109=)
c.3234C= (p.Tyr1078=)
c.2709C= (p.Tyr903=)
c.3024C= (p.Tyr1008=)
n.7596C=
3g.9473253C>GCA351684721SETD5n.1683C>G
c.3309C>G (p.Tyr1103Ter)
n.3717C>G
n.782C>G
n.4288C>G
n.4644C>G
c.3213C>G (p.Tyr1071Ter)
c.*3359C>G (n.*3359C>G)
c.*3282C>G (n.*3282C>G)
c.*3587C>G (n.*3587C>G)
c.*3318C>G (n.*3318C>G)
c.2919C>G (p.Tyr973Ter)
c.2215C>G
c.3270C>G (p.Tyr1090Ter)
c.2249C>G
c.1204C>G
n.2554C>G
n.281C>G
n.18C>G
n.3377C>G
c.3387C>G (p.Tyr1129Ter)
c.3366C>G (p.Tyr1122Ter)
c.3348C>G (p.Tyr1116Ter)
c.3330C>G (p.Tyr1110Ter)
c.3291C>G (p.Tyr1097Ter)
c.3252C>G (p.Tyr1084Ter)
c.2976C>G (p.Tyr992Ter)
c.2937C>G (p.Tyr979Ter)
c.3327C>G (p.Tyr1109Ter)
c.3234C>G (p.Tyr1078Ter)
c.2709C>G (p.Tyr903Ter)
c.3024C>G (p.Tyr1008Ter)
n.7596C>G
3g.9473253C>TCA432365703SETD5n.1683C>T
c.3309C>T (p.Tyr1103=)
n.3717C>T
n.782C>T
n.4288C>T
n.4644C>T
c.3213C>T (p.Tyr1071=)
c.*3359C>T (n.*3359C>T)
c.*3282C>T (n.*3282C>T)
c.*3587C>T (n.*3587C>T)
c.*3318C>T (n.*3318C>T)
c.2919C>T (p.Tyr973=)
c.2215C>T
c.3270C>T (p.Tyr1090=)
c.2249C>T
c.1204C>T
n.2554C>T
n.281C>T
n.18C>T
n.3377C>T
c.3387C>T (p.Tyr1129=)
c.3366C>T (p.Tyr1122=)
c.3348C>T (p.Tyr1116=)
c.3330C>T (p.Tyr1110=)
c.3291C>T (p.Tyr1097=)
c.3252C>T (p.Tyr1084=)
c.2976C>T (p.Tyr992=)
c.2937C>T (p.Tyr979=)
c.3327C>T (p.Tyr1109=)
c.3234C>T (p.Tyr1078=)
c.2709C>T (p.Tyr903=)
c.3024C>T (p.Tyr1008=)
n.7596C>T
 dbSNP gnomAD v2 gnomAD v4
3g.9473254C>ACA432365705SETD5n.1684C>A
c.3310C>A (p.Arg1104=)
n.3718C>A
n.783C>A
n.4289C>A
n.4645C>A
c.3214C>A (p.Arg1072=)
c.*3360C>A (n.*3360C>A)
c.*3283C>A (n.*3283C>A)
c.*3588C>A (n.*3588C>A)
c.*3319C>A (n.*3319C>A)
c.2920C>A (p.Arg974=)
c.2216C>A
c.3271C>A (p.Arg1091=)
c.2250C>A
c.1205C>A
n.2555C>A
n.282C>A
n.19C>A
n.3378C>A
c.3388C>A (p.Arg1130=)
c.3367C>A (p.Arg1123=)
c.3349C>A (p.Arg1117=)
c.3331C>A (p.Arg1111=)
c.3292C>A (p.Arg1098=)
c.3253C>A (p.Arg1085=)
c.2977C>A (p.Arg993=)
c.2938C>A (p.Arg980=)
c.3328C>A (p.Arg1110=)
c.3235C>A (p.Arg1079=)
c.2710C>A (p.Arg904=)
c.3025C>A (p.Arg1009=)
n.7597C>A
 dbSNP
3g.9473254C=CA1344740028SETD5n.1684C=
c.3310C= (p.Arg1104=)
n.3718C=
n.783C=
n.4289C=
n.4645C=
c.3214C= (p.Arg1072=)
c.*3360C= (n.*3360C=)
c.*3283C= (n.*3283C=)
c.*3588C= (n.*3588C=)
c.*3319C= (n.*3319C=)
c.2920C= (p.Arg974=)
c.2216C=
c.3271C= (p.Arg1091=)
c.2250C=
c.1205C=
n.2555C=
n.282C=
n.19C=
n.3378C=
c.3388C= (p.Arg1130=)
c.3367C= (p.Arg1123=)
c.3349C= (p.Arg1117=)
c.3331C= (p.Arg1111=)
c.3292C= (p.Arg1098=)
c.3253C= (p.Arg1085=)
c.2977C= (p.Arg993=)
c.2938C= (p.Arg980=)
c.3328C= (p.Arg1110=)
c.3235C= (p.Arg1079=)
c.2710C= (p.Arg904=)
c.3025C= (p.Arg1009=)
n.7597C=
3g.9473254C>GCA351684725SETD5n.1684C>G
c.3310C>G (p.Arg1104Gly)
n.3718C>G
n.783C>G
n.4289C>G
n.4645C>G
c.3214C>G (p.Arg1072Gly)
c.*3360C>G (n.*3360C>G)
c.*3283C>G (n.*3283C>G)
c.*3588C>G (n.*3588C>G)
c.*3319C>G (n.*3319C>G)
c.2920C>G (p.Arg974Gly)
c.2216C>G
c.3271C>G (p.Arg1091Gly)
c.2250C>G
c.1205C>G
n.2555C>G
n.282C>G
n.19C>G
n.3378C>G
c.3388C>G (p.Arg1130Gly)
c.3367C>G (p.Arg1123Gly)
c.3349C>G (p.Arg1117Gly)
c.3331C>G (p.Arg1111Gly)
c.3292C>G (p.Arg1098Gly)
c.3253C>G (p.Arg1085Gly)
c.2977C>G (p.Arg993Gly)
c.2938C>G (p.Arg980Gly)
c.3328C>G (p.Arg1110Gly)
c.3235C>G (p.Arg1079Gly)
c.2710C>G (p.Arg904Gly)
c.3025C>G (p.Arg1009Gly)
n.7597C>G
3g.9473254C>TCA351684726SETD5n.1684C>T
c.3310C>T (p.Arg1104Ter)
n.3718C>T
n.783C>T
n.4289C>T
n.4645C>T
c.3214C>T (p.Arg1072Ter)
c.*3360C>T (n.*3360C>T)
c.*3283C>T (n.*3283C>T)
c.*3588C>T (n.*3588C>T)
c.*3319C>T (n.*3319C>T)
c.2920C>T (p.Arg974Ter)
c.2216C>T
c.3271C>T (p.Arg1091Ter)
c.2250C>T
c.1205C>T
n.2555C>T
n.282C>T
n.19C>T
n.3378C>T
c.3388C>T (p.Arg1130Ter)
c.3367C>T (p.Arg1123Ter)
c.3349C>T (p.Arg1117Ter)
c.3331C>T (p.Arg1111Ter)
c.3292C>T (p.Arg1098Ter)
c.3253C>T (p.Arg1085Ter)
c.2977C>T (p.Arg993Ter)
c.2938C>T (p.Arg980Ter)
c.3328C>T (p.Arg1110Ter)
c.3235C>T (p.Arg1079Ter)
c.2710C>T (p.Arg904Ter)
c.3025C>T (p.Arg1009Ter)
n.7597C>T
 ClinVar dbSNP
3g.9473255G>ACA351684729SETD5n.1685G>A
c.3311G>A (p.Arg1104Gln)
n.3719G>A
n.784G>A
n.4290G>A
n.4646G>A
c.3215G>A (p.Arg1072Gln)
c.*3361G>A (n.*3361G>A)
c.*3284G>A (n.*3284G>A)
c.*3589G>A (n.*3589G>A)
c.*3320G>A (n.*3320G>A)
c.2921G>A (p.Arg974Gln)
c.2217G>A
c.3272G>A (p.Arg1091Gln)
c.2251G>A
c.1206G>A
n.2556G>A
n.283G>A
n.20G>A
n.3379G>A
c.3389G>A (p.Arg1130Gln)
c.3368G>A (p.Arg1123Gln)
c.3350G>A (p.Arg1117Gln)
c.3332G>A (p.Arg1111Gln)
c.3293G>A (p.Arg1098Gln)
c.3254G>A (p.Arg1085Gln)
c.2978G>A (p.Arg993Gln)
c.2939G>A (p.Arg980Gln)
c.3329G>A (p.Arg1110Gln)
c.3236G>A (p.Arg1079Gln)
c.2711G>A (p.Arg904Gln)
c.3026G>A (p.Arg1009Gln)
n.7598G>A
 gnomAD v4 COSMIC COSMIC
3g.9473255G>CCA351684736SETD5n.1685G>C
c.3311G>C (p.Arg1104Pro)
n.3719G>C
n.784G>C
n.4290G>C
n.4646G>C
c.3215G>C (p.Arg1072Pro)
c.*3361G>C (n.*3361G>C)
c.*3284G>C (n.*3284G>C)
c.*3589G>C (n.*3589G>C)
c.*3320G>C (n.*3320G>C)
c.2921G>C (p.Arg974Pro)
c.2217G>C
c.3272G>C (p.Arg1091Pro)
c.2251G>C
c.1206G>C
n.2556G>C
n.283G>C
n.20G>C
n.3379G>C
c.3389G>C (p.Arg1130Pro)
c.3368G>C (p.Arg1123Pro)
c.3350G>C (p.Arg1117Pro)
c.3332G>C (p.Arg1111Pro)
c.3293G>C (p.Arg1098Pro)
c.3254G>C (p.Arg1085Pro)
c.2978G>C (p.Arg993Pro)
c.2939G>C (p.Arg980Pro)
c.3329G>C (p.Arg1110Pro)
c.3236G>C (p.Arg1079Pro)
c.2711G>C (p.Arg904Pro)
c.3026G>C (p.Arg1009Pro)
n.7598G>C
3g.9473255G>TCA351684732SETD5n.1685G>T
c.3311G>T (p.Arg1104Leu)
n.3719G>T
n.784G>T
n.4290G>T
n.4646G>T
c.3215G>T (p.Arg1072Leu)
c.*3361G>T (n.*3361G>T)
c.*3284G>T (n.*3284G>T)
c.*3589G>T (n.*3589G>T)
c.*3320G>T (n.*3320G>T)
c.2921G>T (p.Arg974Leu)
c.2217G>T
c.3272G>T (p.Arg1091Leu)
c.2251G>T
c.1206G>T
n.2556G>T
n.283G>T
n.20G>T
n.3379G>T
c.3389G>T (p.Arg1130Leu)
c.3368G>T (p.Arg1123Leu)
c.3350G>T (p.Arg1117Leu)
c.3332G>T (p.Arg1111Leu)
c.3293G>T (p.Arg1098Leu)
c.3254G>T (p.Arg1085Leu)
c.2978G>T (p.Arg993Leu)
c.2939G>T (p.Arg980Leu)
c.3329G>T (p.Arg1110Leu)
c.3236G>T (p.Arg1079Leu)
c.2711G>T (p.Arg904Leu)
c.3026G>T (p.Arg1009Leu)
n.7598G>T
3g.9473256A>CCA432365709SETD5n.1686A>C
c.3312A>C (p.Arg1104=)
n.3720A>C
n.785A>C
n.4291A>C
n.4647A>C
c.3216A>C (p.Arg1072=)
c.*3362A>C (n.*3362A>C)
c.*3285A>C (n.*3285A>C)
c.*3590A>C (n.*3590A>C)
c.*3321A>C (n.*3321A>C)
c.2922A>C (p.Arg974=)
c.2218A>C
c.3273A>C (p.Arg1091=)
c.2252A>C
c.1207A>C
n.2557A>C
n.284A>C
n.21A>C
n.3380A>C
c.3390A>C (p.Arg1130=)
c.3369A>C (p.Arg1123=)
c.3351A>C (p.Arg1117=)
c.3333A>C (p.Arg1111=)
c.3294A>C (p.Arg1098=)
c.3255A>C (p.Arg1085=)
c.2979A>C (p.Arg993=)
c.2940A>C (p.Arg980=)
c.3330A>C (p.Arg1110=)
c.3237A>C (p.Arg1079=)
c.2712A>C (p.Arg904=)
c.3027A>C (p.Arg1009=)
n.7599A>C
3g.9473256A>GCA432365710SETD5n.1686A>G
c.3312A>G (p.Arg1104=)
n.3720A>G
n.785A>G
n.4291A>G
n.4647A>G
c.3216A>G (p.Arg1072=)
c.*3362A>G (n.*3362A>G)
c.*3285A>G (n.*3285A>G)
c.*3590A>G (n.*3590A>G)
c.*3321A>G (n.*3321A>G)
c.2922A>G (p.Arg974=)
c.2218A>G
c.3273A>G (p.Arg1091=)
c.2252A>G
c.1207A>G
n.2557A>G
n.284A>G
n.21A>G
n.3380A>G
c.3390A>G (p.Arg1130=)
c.3369A>G (p.Arg1123=)
c.3351A>G (p.Arg1117=)
c.3333A>G (p.Arg1111=)
c.3294A>G (p.Arg1098=)
c.3255A>G (p.Arg1085=)
c.2979A>G (p.Arg993=)
c.2940A>G (p.Arg980=)
c.3330A>G (p.Arg1110=)
c.3237A>G (p.Arg1079=)
c.2712A>G (p.Arg904=)
c.3027A>G (p.Arg1009=)
n.7599A>G
3g.9473256A>TCA432365711SETD5n.1686A>T
c.3312A>T (p.Arg1104=)
n.3720A>T
n.785A>T
n.4291A>T
n.4647A>T
c.3216A>T (p.Arg1072=)
c.*3362A>T (n.*3362A>T)
c.*3285A>T (n.*3285A>T)
c.*3590A>T (n.*3590A>T)
c.*3321A>T (n.*3321A>T)
c.2922A>T (p.Arg974=)
c.2218A>T
c.3273A>T (p.Arg1091=)
c.2252A>T
c.1207A>T
n.2557A>T
n.284A>T
n.21A>T
n.3380A>T
c.3390A>T (p.Arg1130=)
c.3369A>T (p.Arg1123=)
c.3351A>T (p.Arg1117=)
c.3333A>T (p.Arg1111=)
c.3294A>T (p.Arg1098=)
c.3255A>T (p.Arg1085=)
c.2979A>T (p.Arg993=)
c.2940A>T (p.Arg980=)
c.3330A>T (p.Arg1110=)
c.3237A>T (p.Arg1079=)
c.2712A>T (p.Arg904=)
c.3027A>T (p.Arg1009=)
n.7599A>T
3g.9473257A>CCA351684740SETD5n.1687A>C
c.3313A>C (p.Lys1105Gln)
n.3721A>C
n.786A>C
n.4292A>C
n.4648A>C
c.3217A>C (p.Lys1073Gln)
c.*3363A>C (n.*3363A>C)
c.*3286A>C (n.*3286A>C)
c.*3591A>C (n.*3591A>C)
c.*3322A>C (n.*3322A>C)
c.2923A>C (p.Lys975Gln)
c.2219A>C
c.3274A>C (p.Lys1092Gln)
c.2253A>C
c.1208A>C
n.2558A>C
n.285A>C
n.22A>C
n.3381A>C
c.3391A>C (p.Lys1131Gln)
c.3370A>C (p.Lys1124Gln)
c.3352A>C (p.Lys1118Gln)
c.3334A>C (p.Lys1112Gln)
c.3295A>C (p.Lys1099Gln)
c.3256A>C (p.Lys1086Gln)
c.2980A>C (p.Lys994Gln)
c.2941A>C (p.Lys981Gln)
c.3331A>C (p.Lys1111Gln)
c.3238A>C (p.Lys1080Gln)
c.2713A>C (p.Lys905Gln)
c.3028A>C (p.Lys1010Gln)
n.7600A>C
3g.9473257A>GCA351684741SETD5n.1687A>G
c.3313A>G (p.Lys1105Glu)
n.3721A>G
n.786A>G
n.4292A>G
n.4648A>G
c.3217A>G (p.Lys1073Glu)
c.*3363A>G (n.*3363A>G)
c.*3286A>G (n.*3286A>G)
c.*3591A>G (n.*3591A>G)
c.*3322A>G (n.*3322A>G)
c.2923A>G (p.Lys975Glu)
c.2219A>G
c.3274A>G (p.Lys1092Glu)
c.2253A>G
c.1208A>G
n.2558A>G
n.285A>G
n.22A>G
n.3381A>G
c.3391A>G (p.Lys1131Glu)
c.3370A>G (p.Lys1124Glu)
c.3352A>G (p.Lys1118Glu)
c.3334A>G (p.Lys1112Glu)
c.3295A>G (p.Lys1099Glu)
c.3256A>G (p.Lys1086Glu)
c.2980A>G (p.Lys994Glu)
c.2941A>G (p.Lys981Glu)
c.3331A>G (p.Lys1111Glu)
c.3238A>G (p.Lys1080Glu)
c.2713A>G (p.Lys905Glu)
c.3028A>G (p.Lys1010Glu)
n.7600A>G
3g.9473257A>TCA351684743SETD5n.1687A>T
c.3313A>T (p.Lys1105Ter)
n.3721A>T
n.786A>T
n.4292A>T
n.4648A>T
c.3217A>T (p.Lys1073Ter)
c.*3363A>T (n.*3363A>T)
c.*3286A>T (n.*3286A>T)
c.*3591A>T (n.*3591A>T)
c.*3322A>T (n.*3322A>T)
c.2923A>T (p.Lys975Ter)
c.2219A>T
c.3274A>T (p.Lys1092Ter)
c.2253A>T
c.1208A>T
n.2558A>T
n.285A>T
n.22A>T
n.3381A>T
c.3391A>T (p.Lys1131Ter)
c.3370A>T (p.Lys1124Ter)
c.3352A>T (p.Lys1118Ter)
c.3334A>T (p.Lys1112Ter)
c.3295A>T (p.Lys1099Ter)
c.3256A>T (p.Lys1086Ter)
c.2980A>T (p.Lys994Ter)
c.2941A>T (p.Lys981Ter)
c.3331A>T (p.Lys1111Ter)
c.3238A>T (p.Lys1080Ter)
c.2713A>T (p.Lys905Ter)
c.3028A>T (p.Lys1010Ter)
n.7600A>T
3g.9473258A>CCA351684748SETD5n.1688A>C
c.3314A>C (p.Lys1105Thr)
n.3722A>C
n.787A>C
n.4293A>C
n.4649A>C
c.3218A>C (p.Lys1073Thr)
c.*3364A>C (n.*3364A>C)
c.*3287A>C (n.*3287A>C)
c.*3592A>C (n.*3592A>C)
c.*3323A>C (n.*3323A>C)
c.2924A>C (p.Lys975Thr)
c.2220A>C
c.3275A>C (p.Lys1092Thr)
c.2254A>C
c.1209A>C
n.2559A>C
n.286A>C
n.23A>C
n.3382A>C
c.3392A>C (p.Lys1131Thr)
c.3371A>C (p.Lys1124Thr)
c.3353A>C (p.Lys1118Thr)
c.3335A>C (p.Lys1112Thr)
c.3296A>C (p.Lys1099Thr)
c.3257A>C (p.Lys1086Thr)
c.2981A>C (p.Lys994Thr)
c.2942A>C (p.Lys981Thr)
c.3332A>C (p.Lys1111Thr)
c.3239A>C (p.Lys1080Thr)
c.2714A>C (p.Lys905Thr)
c.3029A>C (p.Lys1010Thr)
n.7601A>C
3g.9473258A>GCA351684749SETD5n.1688A>G
c.3314A>G (p.Lys1105Arg)
n.3722A>G
n.787A>G
n.4293A>G
n.4649A>G
c.3218A>G (p.Lys1073Arg)
c.*3364A>G (n.*3364A>G)
c.*3287A>G (n.*3287A>G)
c.*3592A>G (n.*3592A>G)
c.*3323A>G (n.*3323A>G)
c.2924A>G (p.Lys975Arg)
c.2220A>G
c.3275A>G (p.Lys1092Arg)
c.2254A>G
c.1209A>G
n.2559A>G
n.286A>G
n.23A>G
n.3382A>G
c.3392A>G (p.Lys1131Arg)
c.3371A>G (p.Lys1124Arg)
c.3353A>G (p.Lys1118Arg)
c.3335A>G (p.Lys1112Arg)
c.3296A>G (p.Lys1099Arg)
c.3257A>G (p.Lys1086Arg)
c.2981A>G (p.Lys994Arg)
c.2942A>G (p.Lys981Arg)
c.3332A>G (p.Lys1111Arg)
c.3239A>G (p.Lys1080Arg)
c.2714A>G (p.Lys905Arg)
c.3029A>G (p.Lys1010Arg)
n.7601A>G
3g.9473258A>TCA351684750SETD5n.1688A>T
c.3314A>T (p.Lys1105Ile)
n.3722A>T
n.787A>T
n.4293A>T
n.4649A>T
c.3218A>T (p.Lys1073Ile)
c.*3364A>T (n.*3364A>T)
c.*3287A>T (n.*3287A>T)
c.*3592A>T (n.*3592A>T)
c.*3323A>T (n.*3323A>T)
c.2924A>T (p.Lys975Ile)
c.2220A>T
c.3275A>T (p.Lys1092Ile)
c.2254A>T
c.1209A>T
n.2559A>T
n.286A>T
n.23A>T
n.3382A>T
c.3392A>T (p.Lys1131Ile)
c.3371A>T (p.Lys1124Ile)
c.3353A>T (p.Lys1118Ile)
c.3335A>T (p.Lys1112Ile)
c.3296A>T (p.Lys1099Ile)
c.3257A>T (p.Lys1086Ile)
c.2981A>T (p.Lys994Ile)
c.2942A>T (p.Lys981Ile)
c.3332A>T (p.Lys1111Ile)
c.3239A>T (p.Lys1080Ile)
c.2714A>T (p.Lys905Ile)
c.3029A>T (p.Lys1010Ile)
n.7601A>T
3g.9473259A>CCA351684755SETD5n.1689A>C
c.3315A>C (p.Lys1105Asn)
n.3723A>C
n.788A>C
n.4294A>C
n.4650A>C
c.3219A>C (p.Lys1073Asn)
c.*3365A>C (n.*3365A>C)
c.*3288A>C (n.*3288A>C)
c.*3593A>C (n.*3593A>C)
c.*3324A>C (n.*3324A>C)
c.2925A>C (p.Lys975Asn)
c.2221A>C
c.3276A>C (p.Lys1092Asn)
c.2255A>C
c.1210A>C
n.2560A>C
n.287A>C
n.24A>C
n.3383A>C
c.3393A>C (p.Lys1131Asn)
c.3372A>C (p.Lys1124Asn)
c.3354A>C (p.Lys1118Asn)
c.3336A>C (p.Lys1112Asn)
c.3297A>C (p.Lys1099Asn)
c.3258A>C (p.Lys1086Asn)
c.2982A>C (p.Lys994Asn)
c.2943A>C (p.Lys981Asn)
c.3333A>C (p.Lys1111Asn)
c.3240A>C (p.Lys1080Asn)
c.2715A>C (p.Lys905Asn)
c.3030A>C (p.Lys1010Asn)
n.7602A>C
3g.9473259A>GCA432365712SETD5n.1689A>G
c.3315A>G (p.Lys1105=)
n.3723A>G
n.788A>G
n.4294A>G
n.4650A>G
c.3219A>G (p.Lys1073=)
c.*3365A>G (n.*3365A>G)
c.*3288A>G (n.*3288A>G)
c.*3593A>G (n.*3593A>G)
c.*3324A>G (n.*3324A>G)
c.2925A>G (p.Lys975=)
c.2221A>G
c.3276A>G (p.Lys1092=)
c.2255A>G
c.1210A>G
n.2560A>G
n.287A>G
n.24A>G
n.3383A>G
c.3393A>G (p.Lys1131=)
c.3372A>G (p.Lys1124=)
c.3354A>G (p.Lys1118=)
c.3336A>G (p.Lys1112=)
c.3297A>G (p.Lys1099=)
c.3258A>G (p.Lys1086=)
c.2982A>G (p.Lys994=)
c.2943A>G (p.Lys981=)
c.3333A>G (p.Lys1111=)
c.3240A>G (p.Lys1080=)
c.2715A>G (p.Lys905=)
c.3030A>G (p.Lys1010=)
n.7602A>G
3g.9473259A>TCA351684752SETD5n.1689A>T
c.3315A>T (p.Lys1105Asn)
n.3723A>T
n.788A>T
n.4294A>T
n.4650A>T
c.3219A>T (p.Lys1073Asn)
c.*3365A>T (n.*3365A>T)
c.*3288A>T (n.*3288A>T)
c.*3593A>T (n.*3593A>T)
c.*3324A>T (n.*3324A>T)
c.2925A>T (p.Lys975Asn)
c.2221A>T
c.3276A>T (p.Lys1092Asn)
c.2255A>T
c.1210A>T
n.2560A>T
n.287A>T
n.24A>T
n.3383A>T
c.3393A>T (p.Lys1131Asn)
c.3372A>T (p.Lys1124Asn)
c.3354A>T (p.Lys1118Asn)
c.3336A>T (p.Lys1112Asn)
c.3297A>T (p.Lys1099Asn)
c.3258A>T (p.Lys1086Asn)
c.2982A>T (p.Lys994Asn)
c.2943A>T (p.Lys981Asn)
c.3333A>T (p.Lys1111Asn)
c.3240A>T (p.Lys1080Asn)
c.2715A>T (p.Lys905Asn)
c.3030A>T (p.Lys1010Asn)
n.7602A>T
3g.9473260C>ACA432365713SETD5n.1690C>A
c.3316C>A (p.Arg1106=)
n.3724C>A
n.789C>A
n.4295C>A
n.4651C>A
c.3220C>A (p.Arg1074=)
c.*3366C>A (n.*3366C>A)
c.*3289C>A (n.*3289C>A)
c.*3594C>A (n.*3594C>A)
c.*3325C>A (n.*3325C>A)
c.2926C>A (p.Arg976=)
c.2222C>A
c.3277C>A (p.Arg1093=)
c.2256C>A
c.1211C>A
n.2561C>A
n.288C>A
n.25C>A
n.3384C>A
c.3394C>A (p.Arg1132=)
c.3373C>A (p.Arg1125=)
c.3355C>A (p.Arg1119=)
c.3337C>A (p.Arg1113=)
c.3298C>A (p.Arg1100=)
c.3259C>A (p.Arg1087=)
c.2983C>A (p.Arg995=)
c.2944C>A (p.Arg982=)
c.3334C>A (p.Arg1112=)
c.3241C>A (p.Arg1081=)
c.2716C>A (p.Arg906=)
c.3031C>A (p.Arg1011=)
n.7603C>A
3g.9473260C>GCA351684762SETD5n.1690C>G
c.3316C>G (p.Arg1106Gly)
n.3724C>G
n.789C>G
n.4295C>G
n.4651C>G
c.3220C>G (p.Arg1074Gly)
c.*3366C>G (n.*3366C>G)
c.*3289C>G (n.*3289C>G)
c.*3594C>G (n.*3594C>G)
c.*3325C>G (n.*3325C>G)
c.2926C>G (p.Arg976Gly)
c.2222C>G
c.3277C>G (p.Arg1093Gly)
c.2256C>G
c.1211C>G
n.2561C>G
n.288C>G
n.25C>G
n.3384C>G
c.3394C>G (p.Arg1132Gly)
c.3373C>G (p.Arg1125Gly)
c.3355C>G (p.Arg1119Gly)
c.3337C>G (p.Arg1113Gly)
c.3298C>G (p.Arg1100Gly)
c.3259C>G (p.Arg1087Gly)
c.2983C>G (p.Arg995Gly)
c.2944C>G (p.Arg982Gly)
c.3334C>G (p.Arg1112Gly)
c.3241C>G (p.Arg1081Gly)
c.2716C>G (p.Arg906Gly)
c.3031C>G (p.Arg1011Gly)
n.7603C>G
3g.9473260C>TCA351684781SETD5n.1690C>T
c.3316C>T (p.Arg1106Trp)
n.3724C>T
n.789C>T
n.4295C>T
n.4651C>T
c.3220C>T (p.Arg1074Trp)
c.*3366C>T (n.*3366C>T)
c.*3289C>T (n.*3289C>T)
c.*3594C>T (n.*3594C>T)
c.*3325C>T (n.*3325C>T)
c.2926C>T (p.Arg976Trp)
c.2222C>T
c.3277C>T (p.Arg1093Trp)
c.2256C>T
c.1211C>T
n.2561C>T
n.288C>T
n.25C>T
n.3384C>T
c.3394C>T (p.Arg1132Trp)
c.3373C>T (p.Arg1125Trp)
c.3355C>T (p.Arg1119Trp)
c.3337C>T (p.Arg1113Trp)
c.3298C>T (p.Arg1100Trp)
c.3259C>T (p.Arg1087Trp)
c.2983C>T (p.Arg995Trp)
c.2944C>T (p.Arg982Trp)
c.3334C>T (p.Arg1112Trp)
c.3241C>T (p.Arg1081Trp)
c.2716C>T (p.Arg906Trp)
c.3031C>T (p.Arg1011Trp)
n.7603C>T
 gnomAD v4
3g.9473261G>ACA351684786SETD5n.1691G>A
c.3317G>A (p.Arg1106Gln)
n.3725G>A
n.790G>A
n.4296G>A
n.4652G>A
c.3221G>A (p.Arg1074Gln)
c.*3367G>A (n.*3367G>A)
c.*3290G>A (n.*3290G>A)
c.*3595G>A (n.*3595G>A)
c.*3326G>A (n.*3326G>A)
c.2927G>A (p.Arg976Gln)
c.2223G>A
c.3278G>A (p.Arg1093Gln)
c.2257G>A
c.1212G>A
n.2562G>A
n.289G>A
n.26G>A
n.3385G>A
c.3395G>A (p.Arg1132Gln)
c.3374G>A (p.Arg1125Gln)
c.3356G>A (p.Arg1119Gln)
c.3338G>A (p.Arg1113Gln)
c.3299G>A (p.Arg1100Gln)
c.3260G>A (p.Arg1087Gln)
c.2984G>A (p.Arg995Gln)
c.2945G>A (p.Arg982Gln)
c.3335G>A (p.Arg1112Gln)
c.3242G>A (p.Arg1081Gln)
c.2717G>A (p.Arg906Gln)
c.3032G>A (p.Arg1011Gln)
n.7604G>A
 dbSNP COSMIC COSMIC
3g.9473261G>CCA351684794SETD5n.1691G>C
c.3317G>C (p.Arg1106Pro)
n.3725G>C
n.790G>C
n.4296G>C
n.4652G>C
c.3221G>C (p.Arg1074Pro)
c.*3367G>C (n.*3367G>C)
c.*3290G>C (n.*3290G>C)
c.*3595G>C (n.*3595G>C)
c.*3326G>C (n.*3326G>C)
c.2927G>C (p.Arg976Pro)
c.2223G>C
c.3278G>C (p.Arg1093Pro)
c.2257G>C
c.1212G>C
n.2562G>C
n.289G>C
n.26G>C
n.3385G>C
c.3395G>C (p.Arg1132Pro)
c.3374G>C (p.Arg1125Pro)
c.3356G>C (p.Arg1119Pro)
c.3338G>C (p.Arg1113Pro)
c.3299G>C (p.Arg1100Pro)
c.3260G>C (p.Arg1087Pro)
c.2984G>C (p.Arg995Pro)
c.2945G>C (p.Arg982Pro)
c.3335G>C (p.Arg1112Pro)
c.3242G>C (p.Arg1081Pro)
c.2717G>C (p.Arg906Pro)
c.3032G>C (p.Arg1011Pro)
n.7604G>C
 ClinVar dbSNP
3g.9473261G>TCA351684812SETD5n.1691G>T
c.3317G>T (p.Arg1106Leu)
n.3725G>T
n.790G>T
n.4296G>T
n.4652G>T
c.3221G>T (p.Arg1074Leu)
c.*3367G>T (n.*3367G>T)
c.*3290G>T (n.*3290G>T)
c.*3595G>T (n.*3595G>T)
c.*3326G>T (n.*3326G>T)
c.2927G>T (p.Arg976Leu)
c.2223G>T
c.3278G>T (p.Arg1093Leu)
c.2257G>T
c.1212G>T
n.2562G>T
n.289G>T
n.26G>T
n.3385G>T
c.3395G>T (p.Arg1132Leu)
c.3374G>T (p.Arg1125Leu)
c.3356G>T (p.Arg1119Leu)
c.3338G>T (p.Arg1113Leu)
c.3299G>T (p.Arg1100Leu)
c.3260G>T (p.Arg1087Leu)
c.2984G>T (p.Arg995Leu)
c.2945G>T (p.Arg982Leu)
c.3335G>T (p.Arg1112Leu)
c.3242G>T (p.Arg1081Leu)
c.2717G>T (p.Arg906Leu)
c.3032G>T (p.Arg1011Leu)
n.7604G>T
3g.9473262G>ACA432365714SETD5n.1692G>A
c.3318G>A (p.Arg1106=)
n.3726G>A
n.791G>A
n.4297G>A
n.4653G>A
c.3222G>A (p.Arg1074=)
c.*3368G>A (n.*3368G>A)
c.*3291G>A (n.*3291G>A)
c.*3596G>A (n.*3596G>A)
c.*3327G>A (n.*3327G>A)
c.2928G>A (p.Arg976=)
c.2224G>A
c.3279G>A (p.Arg1093=)
c.2258G>A
c.1213G>A
n.2563G>A
n.290G>A
n.27G>A
n.3386G>A
c.3396G>A (p.Arg1132=)
c.3375G>A (p.Arg1125=)
c.3357G>A (p.Arg1119=)
c.3339G>A (p.Arg1113=)
c.3300G>A (p.Arg1100=)
c.3261G>A (p.Arg1087=)
c.2985G>A (p.Arg995=)
c.2946G>A (p.Arg982=)
c.3336G>A (p.Arg1112=)
c.3243G>A (p.Arg1081=)
c.2718G>A (p.Arg906=)
c.3033G>A (p.Arg1011=)
n.7605G>A
 dbSNP gnomAD v3 gnomAD v4
3g.9473262G>CCA432365715SETD5n.1692G>C
c.3318G>C (p.Arg1106=)
n.3726G>C
n.791G>C
n.4297G>C
n.4653G>C
c.3222G>C (p.Arg1074=)
c.*3368G>C (n.*3368G>C)
c.*3291G>C (n.*3291G>C)
c.*3596G>C (n.*3596G>C)
c.*3327G>C (n.*3327G>C)
c.2928G>C (p.Arg976=)
c.2224G>C
c.3279G>C (p.Arg1093=)
c.2258G>C
c.1213G>C
n.2563G>C
n.290G>C
n.27G>C
n.3386G>C
c.3396G>C (p.Arg1132=)
c.3375G>C (p.Arg1125=)
c.3357G>C (p.Arg1119=)
c.3339G>C (p.Arg1113=)
c.3300G>C (p.Arg1100=)
c.3261G>C (p.Arg1087=)
c.2985G>C (p.Arg995=)
c.2946G>C (p.Arg982=)
c.3336G>C (p.Arg1112=)
c.3243G>C (p.Arg1081=)
c.2718G>C (p.Arg906=)
c.3033G>C (p.Arg1011=)
n.7605G>C
3g.9473262G=CA1344740033SETD5n.1692G=
c.3318G= (p.Arg1106=)
n.3726G=
n.791G=
n.4297G=
n.4653G=
c.3222G= (p.Arg1074=)
c.*3368G= (n.*3368G=)
c.*3291G= (n.*3291G=)
c.*3596G= (n.*3596G=)
c.*3327G= (n.*3327G=)
c.2928G= (p.Arg976=)
c.2224G=
c.3279G= (p.Arg1093=)
c.2258G=
c.1213G=
n.2563G=
n.290G=
n.27G=
n.3386G=
c.3396G= (p.Arg1132=)
c.3375G= (p.Arg1125=)
c.3357G= (p.Arg1119=)
c.3339G= (p.Arg1113=)
c.3300G= (p.Arg1100=)
c.3261G= (p.Arg1087=)
c.2985G= (p.Arg995=)
c.2946G= (p.Arg982=)
c.3336G= (p.Arg1112=)
c.3243G= (p.Arg1081=)
c.2718G= (p.Arg906=)
c.3033G= (p.Arg1011=)
n.7605G=
3g.9473262G>TCA2239642SETD5n.1692G>T
c.3318G>T (p.Arg1106=)
n.3726G>T
n.791G>T
n.4297G>T
n.4653G>T
c.3222G>T (p.Arg1074=)
c.*3368G>T (n.*3368G>T)
c.*3291G>T (n.*3291G>T)
c.*3596G>T (n.*3596G>T)
c.*3327G>T (n.*3327G>T)
c.2928G>T (p.Arg976=)
c.2224G>T
c.3279G>T (p.Arg1093=)
c.2258G>T
c.1213G>T
n.2563G>T
n.290G>T
n.27G>T
n.3386G>T
c.3396G>T (p.Arg1132=)
c.3375G>T (p.Arg1125=)
c.3357G>T (p.Arg1119=)
c.3339G>T (p.Arg1113=)
c.3300G>T (p.Arg1100=)
c.3261G>T (p.Arg1087=)
c.2985G>T (p.Arg995=)
c.2946G>T (p.Arg982=)
c.3336G>T (p.Arg1112=)
c.3243G>T (p.Arg1081=)
c.2718G>T (p.Arg906=)
c.3033G>T (p.Arg1011=)
n.7605G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473263A>CCA351684818SETD5n.1693A>C
c.3319A>C (p.Lys1107Gln)
n.3727A>C
n.792A>C
n.4298A>C
n.4654A>C
c.3223A>C (p.Lys1075Gln)
c.*3369A>C (n.*3369A>C)
c.*3292A>C (n.*3292A>C)
c.*3597A>C (n.*3597A>C)
c.*3328A>C (n.*3328A>C)
c.2929A>C (p.Lys977Gln)
c.2225A>C
c.3280A>C (p.Lys1094Gln)
c.2259A>C
c.1214A>C
n.2564A>C
n.291A>C
n.28A>C
n.3387A>C
c.3397A>C (p.Lys1133Gln)
c.3376A>C (p.Lys1126Gln)
c.3358A>C (p.Lys1120Gln)
c.3340A>C (p.Lys1114Gln)
c.3301A>C (p.Lys1101Gln)
c.3262A>C (p.Lys1088Gln)
c.2986A>C (p.Lys996Gln)
c.2947A>C (p.Lys983Gln)
c.3337A>C (p.Lys1113Gln)
c.3244A>C (p.Lys1082Gln)
c.2719A>C (p.Lys907Gln)
c.3034A>C (p.Lys1012Gln)
n.7606A>C
3g.9473263A>GCA351684824SETD5n.1693A>G
c.3319A>G (p.Lys1107Glu)
n.3727A>G
n.792A>G
n.4298A>G
n.4654A>G
c.3223A>G (p.Lys1075Glu)
c.*3369A>G (n.*3369A>G)
c.*3292A>G (n.*3292A>G)
c.*3597A>G (n.*3597A>G)
c.*3328A>G (n.*3328A>G)
c.2929A>G (p.Lys977Glu)
c.2225A>G
c.3280A>G (p.Lys1094Glu)
c.2259A>G
c.1214A>G
n.2564A>G
n.291A>G
n.28A>G
n.3387A>G
c.3397A>G (p.Lys1133Glu)
c.3376A>G (p.Lys1126Glu)
c.3358A>G (p.Lys1120Glu)
c.3340A>G (p.Lys1114Glu)
c.3301A>G (p.Lys1101Glu)
c.3262A>G (p.Lys1088Glu)
c.2986A>G (p.Lys996Glu)
c.2947A>G (p.Lys983Glu)
c.3337A>G (p.Lys1113Glu)
c.3244A>G (p.Lys1082Glu)
c.2719A>G (p.Lys907Glu)
c.3034A>G (p.Lys1012Glu)
n.7606A>G
3g.9473263A>TCA351684820SETD5n.1693A>T
c.3319A>T (p.Lys1107Ter)
n.3727A>T
n.792A>T
n.4298A>T
n.4654A>T
c.3223A>T (p.Lys1075Ter)
c.*3369A>T (n.*3369A>T)
c.*3292A>T (n.*3292A>T)
c.*3597A>T (n.*3597A>T)
c.*3328A>T (n.*3328A>T)
c.2929A>T (p.Lys977Ter)
c.2225A>T
c.3280A>T (p.Lys1094Ter)
c.2259A>T
c.1214A>T
n.2564A>T
n.291A>T
n.28A>T
n.3387A>T
c.3397A>T (p.Lys1133Ter)
c.3376A>T (p.Lys1126Ter)
c.3358A>T (p.Lys1120Ter)
c.3340A>T (p.Lys1114Ter)
c.3301A>T (p.Lys1101Ter)
c.3262A>T (p.Lys1088Ter)
c.2986A>T (p.Lys996Ter)
c.2947A>T (p.Lys983Ter)
c.3337A>T (p.Lys1113Ter)
c.3244A>T (p.Lys1082Ter)
c.2719A>T (p.Lys907Ter)
c.3034A>T (p.Lys1012Ter)
n.7606A>T
3g.9473264A>CCA351684835SETD5n.1694A>C
c.3320A>C (p.Lys1107Thr)
n.3728A>C
n.793A>C
n.4299A>C
n.4655A>C
c.3224A>C (p.Lys1075Thr)
c.*3370A>C (n.*3370A>C)
c.*3293A>C (n.*3293A>C)
c.*3598A>C (n.*3598A>C)
c.*3329A>C (n.*3329A>C)
c.2930A>C (p.Lys977Thr)
c.2226A>C
c.3281A>C (p.Lys1094Thr)
c.2260A>C
c.1215A>C
n.2565A>C
n.292A>C
n.29A>C
n.3388A>C
c.3398A>C (p.Lys1133Thr)
c.3377A>C (p.Lys1126Thr)
c.3359A>C (p.Lys1120Thr)
c.3341A>C (p.Lys1114Thr)
c.3302A>C (p.Lys1101Thr)
c.3263A>C (p.Lys1088Thr)
c.2987A>C (p.Lys996Thr)
c.2948A>C (p.Lys983Thr)
c.3338A>C (p.Lys1113Thr)
c.3245A>C (p.Lys1082Thr)
c.2720A>C (p.Lys907Thr)
c.3035A>C (p.Lys1012Thr)
n.7607A>C
3g.9473264A>GCA351684837SETD5n.1694A>G
c.3320A>G (p.Lys1107Arg)
n.3728A>G
n.793A>G
n.4299A>G
n.4655A>G
c.3224A>G (p.Lys1075Arg)
c.*3370A>G (n.*3370A>G)
c.*3293A>G (n.*3293A>G)
c.*3598A>G (n.*3598A>G)
c.*3329A>G (n.*3329A>G)
c.2930A>G (p.Lys977Arg)
c.2226A>G
c.3281A>G (p.Lys1094Arg)
c.2260A>G
c.1215A>G
n.2565A>G
n.292A>G
n.29A>G
n.3388A>G
c.3398A>G (p.Lys1133Arg)
c.3377A>G (p.Lys1126Arg)
c.3359A>G (p.Lys1120Arg)
c.3341A>G (p.Lys1114Arg)
c.3302A>G (p.Lys1101Arg)
c.3263A>G (p.Lys1088Arg)
c.2987A>G (p.Lys996Arg)
c.2948A>G (p.Lys983Arg)
c.3338A>G (p.Lys1113Arg)
c.3245A>G (p.Lys1082Arg)
c.2720A>G (p.Lys907Arg)
c.3035A>G (p.Lys1012Arg)
n.7607A>G
3g.9473264A>TCA351684839SETD5n.1694A>T
c.3320A>T (p.Lys1107Ile)
n.3728A>T
n.793A>T
n.4299A>T
n.4655A>T
c.3224A>T (p.Lys1075Ile)
c.*3370A>T (n.*3370A>T)
c.*3293A>T (n.*3293A>T)
c.*3598A>T (n.*3598A>T)
c.*3329A>T (n.*3329A>T)
c.2930A>T (p.Lys977Ile)
c.2226A>T
c.3281A>T (p.Lys1094Ile)
c.2260A>T
c.1215A>T
n.2565A>T
n.292A>T
n.29A>T
n.3388A>T
c.3398A>T (p.Lys1133Ile)
c.3377A>T (p.Lys1126Ile)
c.3359A>T (p.Lys1120Ile)
c.3341A>T (p.Lys1114Ile)
c.3302A>T (p.Lys1101Ile)
c.3263A>T (p.Lys1088Ile)
c.2987A>T (p.Lys996Ile)
c.2948A>T (p.Lys983Ile)
c.3338A>T (p.Lys1113Ile)
c.3245A>T (p.Lys1082Ile)
c.2720A>T (p.Lys907Ile)
c.3035A>T (p.Lys1012Ile)
n.7607A>T
3g.9473265A>CCA351684841SETD5n.1695A>C
c.3321A>C (p.Lys1107Asn)
n.3729A>C
n.794A>C
n.4300A>C
n.4656A>C
c.3225A>C (p.Lys1075Asn)
c.*3371A>C (n.*3371A>C)
c.*3294A>C (n.*3294A>C)
c.*3599A>C (n.*3599A>C)
c.*3330A>C (n.*3330A>C)
c.2931A>C (p.Lys977Asn)
c.2227A>C
c.3282A>C (p.Lys1094Asn)
c.2261A>C
c.1216A>C
n.2566A>C
n.293A>C
n.30A>C
n.3389A>C
c.3399A>C (p.Lys1133Asn)
c.3378A>C (p.Lys1126Asn)
c.3360A>C (p.Lys1120Asn)
c.3342A>C (p.Lys1114Asn)
c.3303A>C (p.Lys1101Asn)
c.3264A>C (p.Lys1088Asn)
c.2988A>C (p.Lys996Asn)
c.2949A>C (p.Lys983Asn)
c.3339A>C (p.Lys1113Asn)
c.3246A>C (p.Lys1082Asn)
c.2721A>C (p.Lys907Asn)
c.3036A>C (p.Lys1012Asn)
n.7608A>C
3g.9473265A>GCA432365716SETD5n.1695A>G
c.3321A>G (p.Lys1107=)
n.3729A>G
n.794A>G
n.4300A>G
n.4656A>G
c.3225A>G (p.Lys1075=)
c.*3371A>G (n.*3371A>G)
c.*3294A>G (n.*3294A>G)
c.*3599A>G (n.*3599A>G)
c.*3330A>G (n.*3330A>G)
c.2931A>G (p.Lys977=)
c.2227A>G
c.3282A>G (p.Lys1094=)
c.2261A>G
c.1216A>G
n.2566A>G
n.293A>G
n.30A>G
n.3389A>G
c.3399A>G (p.Lys1133=)
c.3378A>G (p.Lys1126=)
c.3360A>G (p.Lys1120=)
c.3342A>G (p.Lys1114=)
c.3303A>G (p.Lys1101=)
c.3264A>G (p.Lys1088=)
c.2988A>G (p.Lys996=)
c.2949A>G (p.Lys983=)
c.3339A>G (p.Lys1113=)
c.3246A>G (p.Lys1082=)
c.2721A>G (p.Lys907=)
c.3036A>G (p.Lys1012=)
n.7608A>G
3g.9473265A>TCA351684844SETD5n.1695A>T
c.3321A>T (p.Lys1107Asn)
n.3729A>T
n.794A>T
n.4300A>T
n.4656A>T
c.3225A>T (p.Lys1075Asn)
c.*3371A>T (n.*3371A>T)
c.*3294A>T (n.*3294A>T)
c.*3599A>T (n.*3599A>T)
c.*3330A>T (n.*3330A>T)
c.2931A>T (p.Lys977Asn)
c.2227A>T
c.3282A>T (p.Lys1094Asn)
c.2261A>T
c.1216A>T
n.2566A>T
n.293A>T
n.30A>T
n.3389A>T
c.3399A>T (p.Lys1133Asn)
c.3378A>T (p.Lys1126Asn)
c.3360A>T (p.Lys1120Asn)
c.3342A>T (p.Lys1114Asn)
c.3303A>T (p.Lys1101Asn)
c.3264A>T (p.Lys1088Asn)
c.2988A>T (p.Lys996Asn)
c.2949A>T (p.Lys983Asn)
c.3339A>T (p.Lys1113Asn)
c.3246A>T (p.Lys1082Asn)
c.2721A>T (p.Lys907Asn)
c.3036A>T (p.Lys1012Asn)
n.7608A>T
3g.9473266C>ACA351684850SETD5n.1696C>A
c.3322C>A (p.Gln1108Lys)
n.3730C>A
n.795C>A
n.4301C>A
n.4657C>A
c.3226C>A (p.Gln1076Lys)
c.*3372C>A (n.*3372C>A)
c.*3295C>A (n.*3295C>A)
c.*3600C>A (n.*3600C>A)
c.*3331C>A (n.*3331C>A)
c.2932C>A (p.Gln978Lys)
c.2228C>A
c.3283C>A (p.Gln1095Lys)
c.2262C>A
c.1217C>A
n.2567C>A
n.294C>A
n.31C>A
n.3390C>A
c.3400C>A (p.Gln1134Lys)
c.3379C>A (p.Gln1127Lys)
c.3361C>A (p.Gln1121Lys)
c.3343C>A (p.Gln1115Lys)
c.3304C>A (p.Gln1102Lys)
c.3265C>A (p.Gln1089Lys)
c.2989C>A (p.Gln997Lys)
c.2950C>A (p.Gln984Lys)
c.3340C>A (p.Gln1114Lys)
c.3247C>A (p.Gln1083Lys)
c.2722C>A (p.Gln908Lys)
c.3037C>A (p.Gln1013Lys)
n.7609C>A
3g.9473266C=CA1344740040SETD5n.1696C=
c.3322C= (p.Gln1108=)
n.3730C=
n.795C=
n.4301C=
n.4657C=
c.3226C= (p.Gln1076=)
c.*3372C= (n.*3372C=)
c.*3295C= (n.*3295C=)
c.*3600C= (n.*3600C=)
c.*3331C= (n.*3331C=)
c.2932C= (p.Gln978=)
c.2228C=
c.3283C= (p.Gln1095=)
c.2262C=
c.1217C=
n.2567C=
n.294C=
n.31C=
n.3390C=
c.3400C= (p.Gln1134=)
c.3379C= (p.Gln1127=)
c.3361C= (p.Gln1121=)
c.3343C= (p.Gln1115=)
c.3304C= (p.Gln1102=)
c.3265C= (p.Gln1089=)
c.2989C= (p.Gln997=)
c.2950C= (p.Gln984=)
c.3340C= (p.Gln1114=)
c.3247C= (p.Gln1083=)
c.2722C= (p.Gln908=)
c.3037C= (p.Gln1013=)
n.7609C=
3g.9473266C>GCA351684853SETD5n.1696C>G
c.3322C>G (p.Gln1108Glu)
n.3730C>G
n.795C>G
n.4301C>G
n.4657C>G
c.3226C>G (p.Gln1076Glu)
c.*3372C>G (n.*3372C>G)
c.*3295C>G (n.*3295C>G)
c.*3600C>G (n.*3600C>G)
c.*3331C>G (n.*3331C>G)
c.2932C>G (p.Gln978Glu)
c.2228C>G
c.3283C>G (p.Gln1095Glu)
c.2262C>G
c.1217C>G
n.2567C>G
n.294C>G
n.31C>G
n.3390C>G
c.3400C>G (p.Gln1134Glu)
c.3379C>G (p.Gln1127Glu)
c.3361C>G (p.Gln1121Glu)
c.3343C>G (p.Gln1115Glu)
c.3304C>G (p.Gln1102Glu)
c.3265C>G (p.Gln1089Glu)
c.2989C>G (p.Gln997Glu)
c.2950C>G (p.Gln984Glu)
c.3340C>G (p.Gln1114Glu)
c.3247C>G (p.Gln1083Glu)
c.2722C>G (p.Gln908Glu)
c.3037C>G (p.Gln1013Glu)
n.7609C>G
 dbSNP
3g.9473266C>TCA351684856SETD5n.1696C>T
c.3322C>T (p.Gln1108Ter)
n.3730C>T
n.795C>T
n.4301C>T
n.4657C>T
c.3226C>T (p.Gln1076Ter)
c.*3372C>T (n.*3372C>T)
c.*3295C>T (n.*3295C>T)
c.*3600C>T (n.*3600C>T)
c.*3331C>T (n.*3331C>T)
c.2932C>T (p.Gln978Ter)
c.2228C>T
c.3283C>T (p.Gln1095Ter)
c.2262C>T
c.1217C>T
n.2567C>T
n.294C>T
n.31C>T
n.3390C>T
c.3400C>T (p.Gln1134Ter)
c.3379C>T (p.Gln1127Ter)
c.3361C>T (p.Gln1121Ter)
c.3343C>T (p.Gln1115Ter)
c.3304C>T (p.Gln1102Ter)
c.3265C>T (p.Gln1089Ter)
c.2989C>T (p.Gln997Ter)
c.2950C>T (p.Gln984Ter)
c.3340C>T (p.Gln1114Ter)
c.3247C>T (p.Gln1083Ter)
c.2722C>T (p.Gln908Ter)
c.3037C>T (p.Gln1013Ter)
n.7609C>T
3g.9473267A>CCA351684858SETD5n.1697A>C
c.3323A>C (p.Gln1108Pro)
n.3731A>C
n.796A>C
n.4302A>C
n.4658A>C
c.3227A>C (p.Gln1076Pro)
c.*3373A>C (n.*3373A>C)
c.*3296A>C (n.*3296A>C)
c.*3601A>C (n.*3601A>C)
c.*3332A>C (n.*3332A>C)
c.2933A>C (p.Gln978Pro)
c.2229A>C
c.3284A>C (p.Gln1095Pro)
c.2263A>C
c.1218A>C
n.2568A>C
n.295A>C
n.32A>C
n.3391A>C
c.3401A>C (p.Gln1134Pro)
c.3380A>C (p.Gln1127Pro)
c.3362A>C (p.Gln1121Pro)
c.3344A>C (p.Gln1115Pro)
c.3305A>C (p.Gln1102Pro)
c.3266A>C (p.Gln1089Pro)
c.2990A>C (p.Gln997Pro)
c.2951A>C (p.Gln984Pro)
c.3341A>C (p.Gln1114Pro)
c.3248A>C (p.Gln1083Pro)
c.2723A>C (p.Gln908Pro)
c.3038A>C (p.Gln1013Pro)
n.7610A>C
3g.9473267A>GCA351684861SETD5n.1697A>G
c.3323A>G (p.Gln1108Arg)
n.3731A>G
n.796A>G
n.4302A>G
n.4658A>G
c.3227A>G (p.Gln1076Arg)
c.*3373A>G (n.*3373A>G)
c.*3296A>G (n.*3296A>G)
c.*3601A>G (n.*3601A>G)
c.*3332A>G (n.*3332A>G)
c.2933A>G (p.Gln978Arg)
c.2229A>G
c.3284A>G (p.Gln1095Arg)
c.2263A>G
c.1218A>G
n.2568A>G
n.295A>G
n.32A>G
n.3391A>G
c.3401A>G (p.Gln1134Arg)
c.3380A>G (p.Gln1127Arg)
c.3362A>G (p.Gln1121Arg)
c.3344A>G (p.Gln1115Arg)
c.3305A>G (p.Gln1102Arg)
c.3266A>G (p.Gln1089Arg)
c.2990A>G (p.Gln997Arg)
c.2951A>G (p.Gln984Arg)
c.3341A>G (p.Gln1114Arg)
c.3248A>G (p.Gln1083Arg)
c.2723A>G (p.Gln908Arg)
c.3038A>G (p.Gln1013Arg)
n.7610A>G
3g.9473267A>TCA351684865SETD5n.1697A>T
c.3323A>T (p.Gln1108Leu)
n.3731A>T
n.796A>T
n.4302A>T
n.4658A>T
c.3227A>T (p.Gln1076Leu)
c.*3373A>T (n.*3373A>T)
c.*3296A>T (n.*3296A>T)
c.*3601A>T (n.*3601A>T)
c.*3332A>T (n.*3332A>T)
c.2933A>T (p.Gln978Leu)
c.2229A>T
c.3284A>T (p.Gln1095Leu)
c.2263A>T
c.1218A>T
n.2568A>T
n.295A>T
n.32A>T
n.3391A>T
c.3401A>T (p.Gln1134Leu)
c.3380A>T (p.Gln1127Leu)
c.3362A>T (p.Gln1121Leu)
c.3344A>T (p.Gln1115Leu)
c.3305A>T (p.Gln1102Leu)
c.3266A>T (p.Gln1089Leu)
c.2990A>T (p.Gln997Leu)
c.2951A>T (p.Gln984Leu)
c.3341A>T (p.Gln1114Leu)
c.3248A>T (p.Gln1083Leu)
c.2723A>T (p.Gln908Leu)
c.3038A>T (p.Gln1013Leu)
n.7610A>T
3g.9473270_9473272delCA2664307972SETD5n.1700_1702del
c.3326_3328del (p.Glu1109del)
n.3734_3736del
n.799_801del
n.4305_4307del
n.4661_4663del
c.3230_3232del (p.Glu1077del)
c.*3376_*3378del (n.*3376_*3378del)
c.*3299_*3301del (n.*3299_*3301del)
c.*3604_*3606del (n.*3604_*3606del)
c.*3335_*3337del (n.*3335_*3337del)
c.2936_2938del (p.Glu979del)
c.2232_2234del
c.3287_3289del (p.Glu1096del)
c.2266_2268del
c.1221_1223del
n.2571_2573del
n.298_300del
n.35_37del
n.3394_3396del
c.3404_3406del (p.Glu1135del)
c.3383_3385del (p.Glu1128del)
c.3365_3367del (p.Glu1122del)
c.3347_3349del (p.Glu1116del)
c.3308_3310del (p.Glu1103del)
c.3269_3271del (p.Glu1090del)
c.2993_2995del (p.Glu998del)
c.2954_2956del (p.Glu985del)
c.3344_3346del (p.Glu1115del)
c.3251_3253del (p.Glu1084del)
c.2726_2728del (p.Glu909del)
c.3041_3043del (p.Glu1014del)
n.7613_7615del
 gnomAD v4
3g.9473268A>CCA351684868SETD5n.1698A>C
c.3324A>C (p.Gln1108His)
n.3732A>C
n.797A>C
n.4303A>C
n.4659A>C
c.3228A>C (p.Gln1076His)
c.*3374A>C (n.*3374A>C)
c.*3297A>C (n.*3297A>C)
c.*3602A>C (n.*3602A>C)
c.*3333A>C (n.*3333A>C)
c.2934A>C (p.Gln978His)
c.2230A>C
c.3285A>C (p.Gln1095His)
c.2264A>C
c.1219A>C
n.2569A>C
n.296A>C
n.33A>C
n.3392A>C
c.3402A>C (p.Gln1134His)
c.3381A>C (p.Gln1127His)
c.3363A>C (p.Gln1121His)
c.3345A>C (p.Gln1115His)
c.3306A>C (p.Gln1102His)
c.3267A>C (p.Gln1089His)
c.2991A>C (p.Gln997His)
c.2952A>C (p.Gln984His)
c.3342A>C (p.Gln1114His)
c.3249A>C (p.Gln1083His)
c.2724A>C (p.Gln908His)
c.3039A>C (p.Gln1013His)
n.7611A>C
3g.9473268A>GCA432365717SETD5n.1698A>G
c.3324A>G (p.Gln1108=)
n.3732A>G
n.797A>G
n.4303A>G
n.4659A>G
c.3228A>G (p.Gln1076=)
c.*3374A>G (n.*3374A>G)
c.*3297A>G (n.*3297A>G)
c.*3602A>G (n.*3602A>G)
c.*3333A>G (n.*3333A>G)
c.2934A>G (p.Gln978=)
c.2230A>G
c.3285A>G (p.Gln1095=)
c.2264A>G
c.1219A>G
n.2569A>G
n.296A>G
n.33A>G
n.3392A>G
c.3402A>G (p.Gln1134=)
c.3381A>G (p.Gln1127=)
c.3363A>G (p.Gln1121=)
c.3345A>G (p.Gln1115=)
c.3306A>G (p.Gln1102=)
c.3267A>G (p.Gln1089=)
c.2991A>G (p.Gln997=)
c.2952A>G (p.Gln984=)
c.3342A>G (p.Gln1114=)
c.3249A>G (p.Gln1083=)
c.2724A>G (p.Gln908=)
c.3039A>G (p.Gln1013=)
n.7611A>G
 COSMIC COSMIC
3g.9473268A>TCA351684870SETD5n.1698A>T
c.3324A>T (p.Gln1108His)
n.3732A>T
n.797A>T
n.4303A>T
n.4659A>T
c.3228A>T (p.Gln1076His)
c.*3374A>T (n.*3374A>T)
c.*3297A>T (n.*3297A>T)
c.*3602A>T (n.*3602A>T)
c.*3333A>T (n.*3333A>T)
c.2934A>T (p.Gln978His)
c.2230A>T
c.3285A>T (p.Gln1095His)
c.2264A>T
c.1219A>T
n.2569A>T
n.296A>T
n.33A>T
n.3392A>T
c.3402A>T (p.Gln1134His)
c.3381A>T (p.Gln1127His)
c.3363A>T (p.Gln1121His)
c.3345A>T (p.Gln1115His)
c.3306A>T (p.Gln1102His)
c.3267A>T (p.Gln1089His)
c.2991A>T (p.Gln997His)
c.2952A>T (p.Gln984His)
c.3342A>T (p.Gln1114His)
c.3249A>T (p.Gln1083His)
c.2724A>T (p.Gln908His)
c.3039A>T (p.Gln1013His)
n.7611A>T
3g.9473269G>ACA351684871SETD5n.1699G>A
c.3325G>A (p.Glu1109Lys)
n.3733G>A
n.798G>A
n.4304G>A
n.4660G>A
c.3229G>A (p.Glu1077Lys)
c.*3375G>A (n.*3375G>A)
c.*3298G>A (n.*3298G>A)
c.*3603G>A (n.*3603G>A)
c.*3334G>A (n.*3334G>A)
c.2935G>A (p.Glu979Lys)
c.2231G>A
c.3286G>A (p.Glu1096Lys)
c.2265G>A
c.1220G>A
n.2570G>A
n.297G>A
n.34G>A
n.3393G>A
c.3403G>A (p.Glu1135Lys)
c.3382G>A (p.Glu1128Lys)
c.3364G>A (p.Glu1122Lys)
c.3346G>A (p.Glu1116Lys)
c.3307G>A (p.Glu1103Lys)
c.3268G>A (p.Glu1090Lys)
c.2992G>A (p.Glu998Lys)
c.2953G>A (p.Glu985Lys)
c.3343G>A (p.Glu1115Lys)
c.3250G>A (p.Glu1084Lys)
c.2725G>A (p.Glu909Lys)
c.3040G>A (p.Glu1014Lys)
n.7612G>A
3g.9473269G>CCA351684873SETD5n.1699G>C
c.3325G>C (p.Glu1109Gln)
n.3733G>C
n.798G>C
n.4304G>C
n.4660G>C
c.3229G>C (p.Glu1077Gln)
c.*3375G>C (n.*3375G>C)
c.*3298G>C (n.*3298G>C)
c.*3603G>C (n.*3603G>C)
c.*3334G>C (n.*3334G>C)
c.2935G>C (p.Glu979Gln)
c.2231G>C
c.3286G>C (p.Glu1096Gln)
c.2265G>C
c.1220G>C
n.2570G>C
n.297G>C
n.34G>C
n.3393G>C
c.3403G>C (p.Glu1135Gln)
c.3382G>C (p.Glu1128Gln)
c.3364G>C (p.Glu1122Gln)
c.3346G>C (p.Glu1116Gln)
c.3307G>C (p.Glu1103Gln)
c.3268G>C (p.Glu1090Gln)
c.2992G>C (p.Glu998Gln)
c.2953G>C (p.Glu985Gln)
c.3343G>C (p.Glu1115Gln)
c.3250G>C (p.Glu1084Gln)
c.2725G>C (p.Glu909Gln)
c.3040G>C (p.Glu1014Gln)
n.7612G>C
3g.9473269G>TCA351684872SETD5n.1699G>T
c.3325G>T (p.Glu1109Ter)
n.3733G>T
n.798G>T
n.4304G>T
n.4660G>T
c.3229G>T (p.Glu1077Ter)
c.*3375G>T (n.*3375G>T)
c.*3298G>T (n.*3298G>T)
c.*3603G>T (n.*3603G>T)
c.*3334G>T (n.*3334G>T)
c.2935G>T (p.Glu979Ter)
c.2231G>T
c.3286G>T (p.Glu1096Ter)
c.2265G>T
c.1220G>T
n.2570G>T
n.297G>T
n.34G>T
n.3393G>T
c.3403G>T (p.Glu1135Ter)
c.3382G>T (p.Glu1128Ter)
c.3364G>T (p.Glu1122Ter)
c.3346G>T (p.Glu1116Ter)
c.3307G>T (p.Glu1103Ter)
c.3268G>T (p.Glu1090Ter)
c.2992G>T (p.Glu998Ter)
c.2953G>T (p.Glu985Ter)
c.3343G>T (p.Glu1115Ter)
c.3250G>T (p.Glu1084Ter)
c.2725G>T (p.Glu909Ter)
c.3040G>T (p.Glu1014Ter)
n.7612G>T
3g.9473270A>CCA351684875SETD5n.1700A>C
c.3326A>C (p.Glu1109Ala)
n.3734A>C
n.799A>C
n.4305A>C
n.4661A>C
c.3230A>C (p.Glu1077Ala)
c.*3376A>C (n.*3376A>C)
c.*3299A>C (n.*3299A>C)
c.*3604A>C (n.*3604A>C)
c.*3335A>C (n.*3335A>C)
c.2936A>C (p.Glu979Ala)
c.2232A>C
c.3287A>C (p.Glu1096Ala)
c.2266A>C
c.1221A>C
n.2571A>C
n.298A>C
n.35A>C
n.3394A>C
c.3404A>C (p.Glu1135Ala)
c.3383A>C (p.Glu1128Ala)
c.3365A>C (p.Glu1122Ala)
c.3347A>C (p.Glu1116Ala)
c.3308A>C (p.Glu1103Ala)
c.3269A>C (p.Glu1090Ala)
c.2993A>C (p.Glu998Ala)
c.2954A>C (p.Glu985Ala)
c.3344A>C (p.Glu1115Ala)
c.3251A>C (p.Glu1084Ala)
c.2726A>C (p.Glu909Ala)
c.3041A>C (p.Glu1014Ala)
n.7613A>C
3g.9473270A>GCA351684876SETD5n.1700A>G
c.3326A>G (p.Glu1109Gly)
n.3734A>G
n.799A>G
n.4305A>G
n.4661A>G
c.3230A>G (p.Glu1077Gly)
c.*3376A>G (n.*3376A>G)
c.*3299A>G (n.*3299A>G)
c.*3604A>G (n.*3604A>G)
c.*3335A>G (n.*3335A>G)
c.2936A>G (p.Glu979Gly)
c.2232A>G
c.3287A>G (p.Glu1096Gly)
c.2266A>G
c.1221A>G
n.2571A>G
n.298A>G
n.35A>G
n.3394A>G
c.3404A>G (p.Glu1135Gly)
c.3383A>G (p.Glu1128Gly)
c.3365A>G (p.Glu1122Gly)
c.3347A>G (p.Glu1116Gly)
c.3308A>G (p.Glu1103Gly)
c.3269A>G (p.Glu1090Gly)
c.2993A>G (p.Glu998Gly)
c.2954A>G (p.Glu985Gly)
c.3344A>G (p.Glu1115Gly)
c.3251A>G (p.Glu1084Gly)
c.2726A>G (p.Glu909Gly)
c.3041A>G (p.Glu1014Gly)
n.7613A>G
3g.9473270A>TCA351684877SETD5n.1700A>T
c.3326A>T (p.Glu1109Val)
n.3734A>T
n.799A>T
n.4305A>T
n.4661A>T
c.3230A>T (p.Glu1077Val)
c.*3376A>T (n.*3376A>T)
c.*3299A>T (n.*3299A>T)
c.*3604A>T (n.*3604A>T)
c.*3335A>T (n.*3335A>T)
c.2936A>T (p.Glu979Val)
c.2232A>T
c.3287A>T (p.Glu1096Val)
c.2266A>T
c.1221A>T
n.2571A>T
n.298A>T
n.35A>T
n.3394A>T
c.3404A>T (p.Glu1135Val)
c.3383A>T (p.Glu1128Val)
c.3365A>T (p.Glu1122Val)
c.3347A>T (p.Glu1116Val)
c.3308A>T (p.Glu1103Val)
c.3269A>T (p.Glu1090Val)
c.2993A>T (p.Glu998Val)
c.2954A>T (p.Glu985Val)
c.3344A>T (p.Glu1115Val)
c.3251A>T (p.Glu1084Val)
c.2726A>T (p.Glu909Val)
c.3041A>T (p.Glu1014Val)
n.7613A>T
3g.9473271A>CCA351684878SETD5n.1701A>C
c.3327A>C (p.Glu1109Asp)
n.3735A>C
n.800A>C
n.4306A>C
n.4662A>C
c.3231A>C (p.Glu1077Asp)
c.*3377A>C (n.*3377A>C)
c.*3300A>C (n.*3300A>C)
c.*3605A>C (n.*3605A>C)
c.*3336A>C (n.*3336A>C)
c.2937A>C (p.Glu979Asp)
c.2233A>C
c.3288A>C (p.Glu1096Asp)
c.2267A>C
c.1222A>C
n.2572A>C
n.299A>C
n.36A>C
n.3395A>C
c.3405A>C (p.Glu1135Asp)
c.3384A>C (p.Glu1128Asp)
c.3366A>C (p.Glu1122Asp)
c.3348A>C (p.Glu1116Asp)
c.3309A>C (p.Glu1103Asp)
c.3270A>C (p.Glu1090Asp)
c.2994A>C (p.Glu998Asp)
c.2955A>C (p.Glu985Asp)
c.3345A>C (p.Glu1115Asp)
c.3252A>C (p.Glu1084Asp)
c.2727A>C (p.Glu909Asp)
c.3042A>C (p.Glu1014Asp)
n.7614A>C
3g.9473271A>GCA432365718SETD5n.1701A>G
c.3327A>G (p.Glu1109=)
n.3735A>G
n.800A>G
n.4306A>G
n.4662A>G
c.3231A>G (p.Glu1077=)
c.*3377A>G (n.*3377A>G)
c.*3300A>G (n.*3300A>G)
c.*3605A>G (n.*3605A>G)
c.*3336A>G (n.*3336A>G)
c.2937A>G (p.Glu979=)
c.2233A>G
c.3288A>G (p.Glu1096=)
c.2267A>G
c.1222A>G
n.2572A>G
n.299A>G
n.36A>G
n.3395A>G
c.3405A>G (p.Glu1135=)
c.3384A>G (p.Glu1128=)
c.3366A>G (p.Glu1122=)
c.3348A>G (p.Glu1116=)
c.3309A>G (p.Glu1103=)
c.3270A>G (p.Glu1090=)
c.2994A>G (p.Glu998=)
c.2955A>G (p.Glu985=)
c.3345A>G (p.Glu1115=)
c.3252A>G (p.Glu1084=)
c.2727A>G (p.Glu909=)
c.3042A>G (p.Glu1014=)
n.7614A>G
 ClinVar gnomAD v4
3g.9473271A>TCA351684880SETD5n.1701A>T
c.3327A>T (p.Glu1109Asp)
n.3735A>T
n.800A>T
n.4306A>T
n.4662A>T
c.3231A>T (p.Glu1077Asp)
c.*3377A>T (n.*3377A>T)
c.*3300A>T (n.*3300A>T)
c.*3605A>T (n.*3605A>T)
c.*3336A>T (n.*3336A>T)
c.2937A>T (p.Glu979Asp)
c.2233A>T
c.3288A>T (p.Glu1096Asp)
c.2267A>T
c.1222A>T
n.2572A>T
n.299A>T
n.36A>T
n.3395A>T
c.3405A>T (p.Glu1135Asp)
c.3384A>T (p.Glu1128Asp)
c.3366A>T (p.Glu1122Asp)
c.3348A>T (p.Glu1116Asp)
c.3309A>T (p.Glu1103Asp)
c.3270A>T (p.Glu1090Asp)
c.2994A>T (p.Glu998Asp)
c.2955A>T (p.Glu985Asp)
c.3345A>T (p.Glu1115Asp)
c.3252A>T (p.Glu1084Asp)
c.2727A>T (p.Glu909Asp)
c.3042A>T (p.Glu1014Asp)
n.7614A>T
3g.9473272G>ACA2239643SETD5n.1702G>A
c.3328G>A (p.Ala1110Thr)
n.3736G>A
n.801G>A
n.4307G>A
n.4663G>A
c.3232G>A (p.Ala1078Thr)
c.*3378G>A (n.*3378G>A)
c.*3301G>A (n.*3301G>A)
c.*3606G>A (n.*3606G>A)
c.*3337G>A (n.*3337G>A)
c.2938G>A (p.Ala980Thr)
c.2234G>A
c.3289G>A (p.Ala1097Thr)
c.2268G>A
c.1223G>A
n.2573G>A
n.300G>A
n.37G>A
n.3396G>A
c.3406G>A (p.Ala1136Thr)
c.3385G>A (p.Ala1129Thr)
c.3367G>A (p.Ala1123Thr)
c.3349G>A (p.Ala1117Thr)
c.3310G>A (p.Ala1104Thr)
c.3271G>A (p.Ala1091Thr)
c.2995G>A (p.Ala999Thr)
c.2956G>A (p.Ala986Thr)
c.3346G>A (p.Ala1116Thr)
c.3253G>A (p.Ala1085Thr)
c.2728G>A (p.Ala910Thr)
c.3043G>A (p.Ala1015Thr)
n.7615G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473272G>CCA351684884SETD5n.1702G>C
c.3328G>C (p.Ala1110Pro)
n.3736G>C
n.801G>C
n.4307G>C
n.4663G>C
c.3232G>C (p.Ala1078Pro)
c.*3378G>C (n.*3378G>C)
c.*3301G>C (n.*3301G>C)
c.*3606G>C (n.*3606G>C)
c.*3337G>C (n.*3337G>C)
c.2938G>C (p.Ala980Pro)
c.2234G>C
c.3289G>C (p.Ala1097Pro)
c.2268G>C
c.1223G>C
n.2573G>C
n.300G>C
n.37G>C
n.3396G>C
c.3406G>C (p.Ala1136Pro)
c.3385G>C (p.Ala1129Pro)
c.3367G>C (p.Ala1123Pro)
c.3349G>C (p.Ala1117Pro)
c.3310G>C (p.Ala1104Pro)
c.3271G>C (p.Ala1091Pro)
c.2995G>C (p.Ala999Pro)
c.2956G>C (p.Ala986Pro)
c.3346G>C (p.Ala1116Pro)
c.3253G>C (p.Ala1085Pro)
c.2728G>C (p.Ala910Pro)
c.3043G>C (p.Ala1015Pro)
n.7615G>C
3g.9473272G=CA1344740044SETD5n.1702G=
c.3328G= (p.Ala1110=)
n.3736G=
n.801G=
n.4307G=
n.4663G=
c.3232G= (p.Ala1078=)
c.*3378G= (n.*3378G=)
c.*3301G= (n.*3301G=)
c.*3606G= (n.*3606G=)
c.*3337G= (n.*3337G=)
c.2938G= (p.Ala980=)
c.2234G=
c.3289G= (p.Ala1097=)
c.2268G=
c.1223G=
n.2573G=
n.300G=
n.37G=
n.3396G=
c.3406G= (p.Ala1136=)
c.3385G= (p.Ala1129=)
c.3367G= (p.Ala1123=)
c.3349G= (p.Ala1117=)
c.3310G= (p.Ala1104=)
c.3271G= (p.Ala1091=)
c.2995G= (p.Ala999=)
c.2956G= (p.Ala986=)
c.3346G= (p.Ala1116=)
c.3253G= (p.Ala1085=)
c.2728G= (p.Ala910=)
c.3043G= (p.Ala1015=)
n.7615G=
3g.9473272G>TCA351684882SETD5n.1702G>T
c.3328G>T (p.Ala1110Ser)
n.3736G>T
n.801G>T
n.4307G>T
n.4663G>T
c.3232G>T (p.Ala1078Ser)
c.*3378G>T (n.*3378G>T)
c.*3301G>T (n.*3301G>T)
c.*3606G>T (n.*3606G>T)
c.*3337G>T (n.*3337G>T)
c.2938G>T (p.Ala980Ser)
c.2234G>T
c.3289G>T (p.Ala1097Ser)
c.2268G>T
c.1223G>T
n.2573G>T
n.300G>T
n.37G>T
n.3396G>T
c.3406G>T (p.Ala1136Ser)
c.3385G>T (p.Ala1129Ser)
c.3367G>T (p.Ala1123Ser)
c.3349G>T (p.Ala1117Ser)
c.3310G>T (p.Ala1104Ser)
c.3271G>T (p.Ala1091Ser)
c.2995G>T (p.Ala999Ser)
c.2956G>T (p.Ala986Ser)
c.3346G>T (p.Ala1116Ser)
c.3253G>T (p.Ala1085Ser)
c.2728G>T (p.Ala910Ser)
c.3043G>T (p.Ala1015Ser)
n.7615G>T
3g.9473273C>ACA351684888SETD5n.1703C>A
c.3329C>A (p.Ala1110Asp)
n.3737C>A
n.802C>A
n.4308C>A
n.4664C>A
c.3233C>A (p.Ala1078Asp)
c.*3379C>A (n.*3379C>A)
c.*3302C>A (n.*3302C>A)
c.*3607C>A (n.*3607C>A)
c.*3338C>A (n.*3338C>A)
c.2939C>A (p.Ala980Asp)
c.2235C>A
c.3290C>A (p.Ala1097Asp)
c.2269C>A
c.1224C>A
n.2574C>A
n.301C>A
n.38C>A
n.3397C>A
c.3407C>A (p.Ala1136Asp)
c.3386C>A (p.Ala1129Asp)
c.3368C>A (p.Ala1123Asp)
c.3350C>A (p.Ala1117Asp)
c.3311C>A (p.Ala1104Asp)
c.3272C>A (p.Ala1091Asp)
c.2996C>A (p.Ala999Asp)
c.2957C>A (p.Ala986Asp)
c.3347C>A (p.Ala1116Asp)
c.3254C>A (p.Ala1085Asp)
c.2729C>A (p.Ala910Asp)
c.3044C>A (p.Ala1015Asp)
n.7616C>A
 gnomAD v4
3g.9473273C>GCA351684891SETD5n.1703C>G
c.3329C>G (p.Ala1110Gly)
n.3737C>G
n.802C>G
n.4308C>G
n.4664C>G
c.3233C>G (p.Ala1078Gly)
c.*3379C>G (n.*3379C>G)
c.*3302C>G (n.*3302C>G)
c.*3607C>G (n.*3607C>G)
c.*3338C>G (n.*3338C>G)
c.2939C>G (p.Ala980Gly)
c.2235C>G
c.3290C>G (p.Ala1097Gly)
c.2269C>G
c.1224C>G
n.2574C>G
n.301C>G
n.38C>G
n.3397C>G
c.3407C>G (p.Ala1136Gly)
c.3386C>G (p.Ala1129Gly)
c.3368C>G (p.Ala1123Gly)
c.3350C>G (p.Ala1117Gly)
c.3311C>G (p.Ala1104Gly)
c.3272C>G (p.Ala1091Gly)
c.2996C>G (p.Ala999Gly)
c.2957C>G (p.Ala986Gly)
c.3347C>G (p.Ala1116Gly)
c.3254C>G (p.Ala1085Gly)
c.2729C>G (p.Ala910Gly)
c.3044C>G (p.Ala1015Gly)
n.7616C>G
3g.9473273C>TCA351684895SETD5n.1703C>T
c.3329C>T (p.Ala1110Val)
n.3737C>T
n.802C>T
n.4308C>T
n.4664C>T
c.3233C>T (p.Ala1078Val)
c.*3379C>T (n.*3379C>T)
c.*3302C>T (n.*3302C>T)
c.*3607C>T (n.*3607C>T)
c.*3338C>T (n.*3338C>T)
c.2939C>T (p.Ala980Val)
c.2235C>T
c.3290C>T (p.Ala1097Val)
c.2269C>T
c.1224C>T
n.2574C>T
n.301C>T
n.38C>T
n.3397C>T
c.3407C>T (p.Ala1136Val)
c.3386C>T (p.Ala1129Val)
c.3368C>T (p.Ala1123Val)
c.3350C>T (p.Ala1117Val)
c.3311C>T (p.Ala1104Val)
c.3272C>T (p.Ala1091Val)
c.2996C>T (p.Ala999Val)
c.2957C>T (p.Ala986Val)
c.3347C>T (p.Ala1116Val)
c.3254C>T (p.Ala1085Val)
c.2729C>T (p.Ala910Val)
c.3044C>T (p.Ala1015Val)
n.7616C>T
3g.9473274T>ACA432365719SETD5n.1704T>A
c.3330T>A (p.Ala1110=)
n.3738T>A
n.803T>A
n.4309T>A
n.4665T>A
c.3234T>A (p.Ala1078=)
c.*3380T>A (n.*3380T>A)
c.*3303T>A (n.*3303T>A)
c.*3608T>A (n.*3608T>A)
c.*3339T>A (n.*3339T>A)
c.2940T>A (p.Ala980=)
c.2236T>A
c.3291T>A (p.Ala1097=)
c.2270T>A
c.1225T>A
n.2575T>A
n.302T>A
n.39T>A
n.3398T>A
c.3408T>A (p.Ala1136=)
c.3387T>A (p.Ala1129=)
c.3369T>A (p.Ala1123=)
c.3351T>A (p.Ala1117=)
c.3312T>A (p.Ala1104=)
c.3273T>A (p.Ala1091=)
c.2997T>A (p.Ala999=)
c.2958T>A (p.Ala986=)
c.3348T>A (p.Ala1116=)
c.3255T>A (p.Ala1085=)
c.2730T>A (p.Ala910=)
c.3045T>A (p.Ala1015=)
n.7617T>A
3g.9473274T>CCA432365720SETD5n.1704T>C
c.3330T>C (p.Ala1110=)
n.3738T>C
n.803T>C
n.4309T>C
n.4665T>C
c.3234T>C (p.Ala1078=)
c.*3380T>C (n.*3380T>C)
c.*3303T>C (n.*3303T>C)
c.*3608T>C (n.*3608T>C)
c.*3339T>C (n.*3339T>C)
c.2940T>C (p.Ala980=)
c.2236T>C
c.3291T>C (p.Ala1097=)
c.2270T>C
c.1225T>C
n.2575T>C
n.302T>C
n.39T>C
n.3398T>C
c.3408T>C (p.Ala1136=)
c.3387T>C (p.Ala1129=)
c.3369T>C (p.Ala1123=)
c.3351T>C (p.Ala1117=)
c.3312T>C (p.Ala1104=)
c.3273T>C (p.Ala1091=)
c.2997T>C (p.Ala999=)
c.2958T>C (p.Ala986=)
c.3348T>C (p.Ala1116=)
c.3255T>C (p.Ala1085=)
c.2730T>C (p.Ala910=)
c.3045T>C (p.Ala1015=)
n.7617T>C
 dbSNP
3g.9473274T>GCA432365721SETD5n.1704T>G
c.3330T>G (p.Ala1110=)
n.3738T>G
n.803T>G
n.4309T>G
n.4665T>G
c.3234T>G (p.Ala1078=)
c.*3380T>G (n.*3380T>G)
c.*3303T>G (n.*3303T>G)
c.*3608T>G (n.*3608T>G)
c.*3339T>G (n.*3339T>G)
c.2940T>G (p.Ala980=)
c.2236T>G
c.3291T>G (p.Ala1097=)
c.2270T>G
c.1225T>G
n.2575T>G
n.302T>G
n.39T>G
n.3398T>G
c.3408T>G (p.Ala1136=)
c.3387T>G (p.Ala1129=)
c.3369T>G (p.Ala1123=)
c.3351T>G (p.Ala1117=)
c.3312T>G (p.Ala1104=)
c.3273T>G (p.Ala1091=)
c.2997T>G (p.Ala999=)
c.2958T>G (p.Ala986=)
c.3348T>G (p.Ala1116=)
c.3255T>G (p.Ala1085=)
c.2730T>G (p.Ala910=)
c.3045T>G (p.Ala1015=)
n.7617T>G
 gnomAD v4
3g.9473274T=CA1344740046SETD5n.1704T=
c.3330T= (p.Ala1110=)
n.3738T=
n.803T=
n.4309T=
n.4665T=
c.3234T= (p.Ala1078=)
c.*3380T= (n.*3380T=)
c.*3303T= (n.*3303T=)
c.*3608T= (n.*3608T=)
c.*3339T= (n.*3339T=)
c.2940T= (p.Ala980=)
c.2236T=
c.3291T= (p.Ala1097=)
c.2270T=
c.1225T=
n.2575T=
n.302T=
n.39T=
n.3398T=
c.3408T= (p.Ala1136=)
c.3387T= (p.Ala1129=)
c.3369T= (p.Ala1123=)
c.3351T= (p.Ala1117=)
c.3312T= (p.Ala1104=)
c.3273T= (p.Ala1091=)
c.2997T= (p.Ala999=)
c.2958T= (p.Ala986=)
c.3348T= (p.Ala1116=)
c.3255T= (p.Ala1085=)
c.2730T= (p.Ala910=)
c.3045T= (p.Ala1015=)
n.7617T=
3g.9473275A=CA1344740052SETD5n.1705A=
c.3331A= (p.Lys1111=)
n.3739A=
n.804A=
n.4310A=
n.4666A=
c.3235A= (p.Lys1079=)
c.*3381A= (n.*3381A=)
c.*3304A= (n.*3304A=)
c.*3609A= (n.*3609A=)
c.*3340A= (n.*3340A=)
c.2941A= (p.Lys981=)
c.2237A=
c.3292A= (p.Lys1098=)
c.2271A=
c.1226A=
n.2576A=
n.303A=
n.40A=
n.3399A=
c.3409A= (p.Lys1137=)
c.3388A= (p.Lys1130=)
c.3370A= (p.Lys1124=)
c.3352A= (p.Lys1118=)
c.3313A= (p.Lys1105=)
c.3274A= (p.Lys1092=)
c.2998A= (p.Lys1000=)
c.2959A= (p.Lys987=)
c.3349A= (p.Lys1117=)
c.3256A= (p.Lys1086=)
c.2731A= (p.Lys911=)
c.3046A= (p.Lys1016=)
n.7618A=
3g.9473275A>CCA351684898SETD5n.1705A>C
c.3331A>C (p.Lys1111Gln)
n.3739A>C
n.804A>C
n.4310A>C
n.4666A>C
c.3235A>C (p.Lys1079Gln)
c.*3381A>C (n.*3381A>C)
c.*3304A>C (n.*3304A>C)
c.*3609A>C (n.*3609A>C)
c.*3340A>C (n.*3340A>C)
c.2941A>C (p.Lys981Gln)
c.2237A>C
c.3292A>C (p.Lys1098Gln)
c.2271A>C
c.1226A>C
n.2576A>C
n.303A>C
n.40A>C
n.3399A>C
c.3409A>C (p.Lys1137Gln)
c.3388A>C (p.Lys1130Gln)
c.3370A>C (p.Lys1124Gln)
c.3352A>C (p.Lys1118Gln)
c.3313A>C (p.Lys1105Gln)
c.3274A>C (p.Lys1092Gln)
c.2998A>C (p.Lys1000Gln)
c.2959A>C (p.Lys987Gln)
c.3349A>C (p.Lys1117Gln)
c.3256A>C (p.Lys1086Gln)
c.2731A>C (p.Lys911Gln)
c.3046A>C (p.Lys1016Gln)
n.7618A>C
3g.9473275A>GCA2239644SETD5n.1705A>G
c.3331A>G (p.Lys1111Glu)
n.3739A>G
n.804A>G
n.4310A>G
n.4666A>G
c.3235A>G (p.Lys1079Glu)
c.*3381A>G (n.*3381A>G)
c.*3304A>G (n.*3304A>G)
c.*3609A>G (n.*3609A>G)
c.*3340A>G (n.*3340A>G)
c.2941A>G (p.Lys981Glu)
c.2237A>G
c.3292A>G (p.Lys1098Glu)
c.2271A>G
c.1226A>G
n.2576A>G
n.303A>G
n.40A>G
n.3399A>G
c.3409A>G (p.Lys1137Glu)
c.3388A>G (p.Lys1130Glu)
c.3370A>G (p.Lys1124Glu)
c.3352A>G (p.Lys1118Glu)
c.3313A>G (p.Lys1105Glu)
c.3274A>G (p.Lys1092Glu)
c.2998A>G (p.Lys1000Glu)
c.2959A>G (p.Lys987Glu)
c.3349A>G (p.Lys1117Glu)
c.3256A>G (p.Lys1086Glu)
c.2731A>G (p.Lys911Glu)
c.3046A>G (p.Lys1016Glu)
n.7618A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473275A>TCA351684901SETD5n.1705A>T
c.3331A>T (p.Lys1111Ter)
n.3739A>T
n.804A>T
n.4310A>T
n.4666A>T
c.3235A>T (p.Lys1079Ter)
c.*3381A>T (n.*3381A>T)
c.*3304A>T (n.*3304A>T)
c.*3609A>T (n.*3609A>T)
c.*3340A>T (n.*3340A>T)
c.2941A>T (p.Lys981Ter)
c.2237A>T
c.3292A>T (p.Lys1098Ter)
c.2271A>T
c.1226A>T
n.2576A>T
n.303A>T
n.40A>T
n.3399A>T
c.3409A>T (p.Lys1137Ter)
c.3388A>T (p.Lys1130Ter)
c.3370A>T (p.Lys1124Ter)
c.3352A>T (p.Lys1118Ter)
c.3313A>T (p.Lys1105Ter)
c.3274A>T (p.Lys1092Ter)
c.2998A>T (p.Lys1000Ter)
c.2959A>T (p.Lys987Ter)
c.3349A>T (p.Lys1117Ter)
c.3256A>T (p.Lys1086Ter)
c.2731A>T (p.Lys911Ter)
c.3046A>T (p.Lys1016Ter)
n.7618A>T
3g.9473276A>CCA351684906SETD5n.1706A>C
c.3332A>C (p.Lys1111Thr)
n.3740A>C
n.805A>C
n.4311A>C
n.4667A>C
c.3236A>C (p.Lys1079Thr)
c.*3382A>C (n.*3382A>C)
c.*3305A>C (n.*3305A>C)
c.*3610A>C (n.*3610A>C)
c.*3341A>C (n.*3341A>C)
c.2942A>C (p.Lys981Thr)
c.2238A>C
c.3293A>C (p.Lys1098Thr)
c.2272A>C
c.1227A>C
n.2577A>C
n.304A>C
n.41A>C
n.3400A>C
c.3410A>C (p.Lys1137Thr)
c.3389A>C (p.Lys1130Thr)
c.3371A>C (p.Lys1124Thr)
c.3353A>C (p.Lys1118Thr)
c.3314A>C (p.Lys1105Thr)
c.3275A>C (p.Lys1092Thr)
c.2999A>C (p.Lys1000Thr)
c.2960A>C (p.Lys987Thr)
c.3350A>C (p.Lys1117Thr)
c.3257A>C (p.Lys1086Thr)
c.2732A>C (p.Lys911Thr)
c.3047A>C (p.Lys1016Thr)
n.7619A>C
3g.9473276A>GCA351684914SETD5n.1706A>G
c.3332A>G (p.Lys1111Arg)
n.3740A>G
n.805A>G
n.4311A>G
n.4667A>G
c.3236A>G (p.Lys1079Arg)
c.*3382A>G (n.*3382A>G)
c.*3305A>G (n.*3305A>G)
c.*3610A>G (n.*3610A>G)
c.*3341A>G (n.*3341A>G)
c.2942A>G (p.Lys981Arg)
c.2238A>G
c.3293A>G (p.Lys1098Arg)
c.2272A>G
c.1227A>G
n.2577A>G
n.304A>G
n.41A>G
n.3400A>G
c.3410A>G (p.Lys1137Arg)
c.3389A>G (p.Lys1130Arg)
c.3371A>G (p.Lys1124Arg)
c.3353A>G (p.Lys1118Arg)
c.3314A>G (p.Lys1105Arg)
c.3275A>G (p.Lys1092Arg)
c.2999A>G (p.Lys1000Arg)
c.2960A>G (p.Lys987Arg)
c.3350A>G (p.Lys1117Arg)
c.3257A>G (p.Lys1086Arg)
c.2732A>G (p.Lys911Arg)
c.3047A>G (p.Lys1016Arg)
n.7619A>G
3g.9473276A>TCA351684911SETD5n.1706A>T
c.3332A>T (p.Lys1111Met)
n.3740A>T
n.805A>T
n.4311A>T
n.4667A>T
c.3236A>T (p.Lys1079Met)
c.*3382A>T (n.*3382A>T)
c.*3305A>T (n.*3305A>T)
c.*3610A>T (n.*3610A>T)
c.*3341A>T (n.*3341A>T)
c.2942A>T (p.Lys981Met)
c.2238A>T
c.3293A>T (p.Lys1098Met)
c.2272A>T
c.1227A>T
n.2577A>T
n.304A>T
n.41A>T
n.3400A>T
c.3410A>T (p.Lys1137Met)
c.3389A>T (p.Lys1130Met)
c.3371A>T (p.Lys1124Met)
c.3353A>T (p.Lys1118Met)
c.3314A>T (p.Lys1105Met)
c.3275A>T (p.Lys1092Met)
c.2999A>T (p.Lys1000Met)
c.2960A>T (p.Lys987Met)
c.3350A>T (p.Lys1117Met)
c.3257A>T (p.Lys1086Met)
c.2732A>T (p.Lys911Met)
c.3047A>T (p.Lys1016Met)
n.7619A>T
3g.9473277G>ACA432365722SETD5n.1707G>A
c.3333G>A (p.Lys1111=)
n.3741G>A
n.806G>A
n.4312G>A
n.4668G>A
c.3237G>A (p.Lys1079=)
c.*3383G>A (n.*3383G>A)
c.*3306G>A (n.*3306G>A)
c.*3611G>A (n.*3611G>A)
c.*3342G>A (n.*3342G>A)
c.2943G>A (p.Lys981=)
c.2239G>A
c.3294G>A (p.Lys1098=)
c.2273G>A
c.1228G>A
n.2578G>A
n.305G>A
n.42G>A
n.3401G>A
c.3411G>A (p.Lys1137=)
c.3390G>A (p.Lys1130=)
c.3372G>A (p.Lys1124=)
c.3354G>A (p.Lys1118=)
c.3315G>A (p.Lys1105=)
c.3276G>A (p.Lys1092=)
c.3000G>A (p.Lys1000=)
c.2961G>A (p.Lys987=)
c.3351G>A (p.Lys1117=)
c.3258G>A (p.Lys1086=)
c.2733G>A (p.Lys911=)
c.3048G>A (p.Lys1016=)
n.7620G>A
3g.9473277G>CCA351684917SETD5n.1707G>C
c.3333G>C (p.Lys1111Asn)
n.3741G>C
n.806G>C
n.4312G>C
n.4668G>C
c.3237G>C (p.Lys1079Asn)
c.*3383G>C (n.*3383G>C)
c.*3306G>C (n.*3306G>C)
c.*3611G>C (n.*3611G>C)
c.*3342G>C (n.*3342G>C)
c.2943G>C (p.Lys981Asn)
c.2239G>C
c.3294G>C (p.Lys1098Asn)
c.2273G>C
c.1228G>C
n.2578G>C
n.305G>C
n.42G>C
n.3401G>C
c.3411G>C (p.Lys1137Asn)
c.3390G>C (p.Lys1130Asn)
c.3372G>C (p.Lys1124Asn)
c.3354G>C (p.Lys1118Asn)
c.3315G>C (p.Lys1105Asn)
c.3276G>C (p.Lys1092Asn)
c.3000G>C (p.Lys1000Asn)
c.2961G>C (p.Lys987Asn)
c.3351G>C (p.Lys1117Asn)
c.3258G>C (p.Lys1086Asn)
c.2733G>C (p.Lys911Asn)
c.3048G>C (p.Lys1016Asn)
n.7620G>C
3g.9473277G>TCA351684921SETD5n.1707G>T
c.3333G>T (p.Lys1111Asn)
n.3741G>T
n.806G>T
n.4312G>T
n.4668G>T
c.3237G>T (p.Lys1079Asn)
c.*3383G>T (n.*3383G>T)
c.*3306G>T (n.*3306G>T)
c.*3611G>T (n.*3611G>T)
c.*3342G>T (n.*3342G>T)
c.2943G>T (p.Lys981Asn)
c.2239G>T
c.3294G>T (p.Lys1098Asn)
c.2273G>T
c.1228G>T
n.2578G>T
n.305G>T
n.42G>T
n.3401G>T
c.3411G>T (p.Lys1137Asn)
c.3390G>T (p.Lys1130Asn)
c.3372G>T (p.Lys1124Asn)
c.3354G>T (p.Lys1118Asn)
c.3315G>T (p.Lys1105Asn)
c.3276G>T (p.Lys1092Asn)
c.3000G>T (p.Lys1000Asn)
c.2961G>T (p.Lys987Asn)
c.3351G>T (p.Lys1117Asn)
c.3258G>T (p.Lys1086Asn)
c.2733G>T (p.Lys911Asn)
c.3048G>T (p.Lys1016Asn)
n.7620G>T
3g.9473278G>ACA351684933SETD5n.1708G>A
c.3334G>A (p.Glu1112Lys)
n.3742G>A
n.807G>A
n.4313G>A
n.4669G>A
c.3238G>A (p.Glu1080Lys)
c.*3384G>A (n.*3384G>A)
c.*3307G>A (n.*3307G>A)
c.*3612G>A (n.*3612G>A)
c.*3343G>A (n.*3343G>A)
c.2944G>A (p.Glu982Lys)
c.2240G>A
c.3295G>A (p.Glu1099Lys)
c.2274G>A
c.1229G>A
n.2579G>A
n.306G>A
n.43G>A
n.3402G>A
c.3412G>A (p.Glu1138Lys)
c.3391G>A (p.Glu1131Lys)
c.3373G>A (p.Glu1125Lys)
c.3355G>A (p.Glu1119Lys)
c.3316G>A (p.Glu1106Lys)
c.3277G>A (p.Glu1093Lys)
c.3001G>A (p.Glu1001Lys)
c.2962G>A (p.Glu988Lys)
c.3352G>A (p.Glu1118Lys)
c.3259G>A (p.Glu1087Lys)
c.2734G>A (p.Glu912Lys)
c.3049G>A (p.Glu1017Lys)
n.7621G>A
3g.9473278G>CCA351684935SETD5n.1708G>C
c.3334G>C (p.Glu1112Gln)
n.3742G>C
n.807G>C
n.4313G>C
n.4669G>C
c.3238G>C (p.Glu1080Gln)
c.*3384G>C (n.*3384G>C)
c.*3307G>C (n.*3307G>C)
c.*3612G>C (n.*3612G>C)
c.*3343G>C (n.*3343G>C)
c.2944G>C (p.Glu982Gln)
c.2240G>C
c.3295G>C (p.Glu1099Gln)
c.2274G>C
c.1229G>C
n.2579G>C
n.306G>C
n.43G>C
n.3402G>C
c.3412G>C (p.Glu1138Gln)
c.3391G>C (p.Glu1131Gln)
c.3373G>C (p.Glu1125Gln)
c.3355G>C (p.Glu1119Gln)
c.3316G>C (p.Glu1106Gln)
c.3277G>C (p.Glu1093Gln)
c.3001G>C (p.Glu1001Gln)
c.2962G>C (p.Glu988Gln)
c.3352G>C (p.Glu1118Gln)
c.3259G>C (p.Glu1087Gln)
c.2734G>C (p.Glu912Gln)
c.3049G>C (p.Glu1017Gln)
n.7621G>C
3g.9473278G>TCA351684938SETD5n.1708G>T
c.3334G>T (p.Glu1112Ter)
n.3742G>T
n.807G>T
n.4313G>T
n.4669G>T
c.3238G>T (p.Glu1080Ter)
c.*3384G>T (n.*3384G>T)
c.*3307G>T (n.*3307G>T)
c.*3612G>T (n.*3612G>T)
c.*3343G>T (n.*3343G>T)
c.2944G>T (p.Glu982Ter)
c.2240G>T
c.3295G>T (p.Glu1099Ter)
c.2274G>T
c.1229G>T
n.2579G>T
n.306G>T
n.43G>T
n.3402G>T
c.3412G>T (p.Glu1138Ter)
c.3391G>T (p.Glu1131Ter)
c.3373G>T (p.Glu1125Ter)
c.3355G>T (p.Glu1119Ter)
c.3316G>T (p.Glu1106Ter)
c.3277G>T (p.Glu1093Ter)
c.3001G>T (p.Glu1001Ter)
c.2962G>T (p.Glu988Ter)
c.3352G>T (p.Glu1118Ter)
c.3259G>T (p.Glu1087Ter)
c.2734G>T (p.Glu912Ter)
c.3049G>T (p.Glu1017Ter)
n.7621G>T
3g.9473279A=CA1344740054SETD5n.1709A=
c.3335A= (p.Glu1112=)
n.3743A=
n.808A=
n.4314A=
n.4670A=
c.3239A= (p.Glu1080=)
c.*3385A= (n.*3385A=)
c.*3308A= (n.*3308A=)
c.*3613A= (n.*3613A=)
c.*3344A= (n.*3344A=)
c.2945A= (p.Glu982=)
c.2241A=
c.3296A= (p.Glu1099=)
c.2275A=
c.1230A=
n.2580A=
n.307A=
n.44A=
n.3403A=
c.3413A= (p.Glu1138=)
c.3392A= (p.Glu1131=)
c.3374A= (p.Glu1125=)
c.3356A= (p.Glu1119=)
c.3317A= (p.Glu1106=)
c.3278A= (p.Glu1093=)
c.3002A= (p.Glu1001=)
c.2963A= (p.Glu988=)
c.3353A= (p.Glu1118=)
c.3260A= (p.Glu1087=)
c.2735A= (p.Glu912=)
c.3050A= (p.Glu1017=)
n.7622A=
3g.9473279A>CCA351684946SETD5n.1709A>C
c.3335A>C (p.Glu1112Ala)
n.3743A>C
n.808A>C
n.4314A>C
n.4670A>C
c.3239A>C (p.Glu1080Ala)
c.*3385A>C (n.*3385A>C)
c.*3308A>C (n.*3308A>C)
c.*3613A>C (n.*3613A>C)
c.*3344A>C (n.*3344A>C)
c.2945A>C (p.Glu982Ala)
c.2241A>C
c.3296A>C (p.Glu1099Ala)
c.2275A>C
c.1230A>C
n.2580A>C
n.307A>C
n.44A>C
n.3403A>C
c.3413A>C (p.Glu1138Ala)
c.3392A>C (p.Glu1131Ala)
c.3374A>C (p.Glu1125Ala)
c.3356A>C (p.Glu1119Ala)
c.3317A>C (p.Glu1106Ala)
c.3278A>C (p.Glu1093Ala)
c.3002A>C (p.Glu1001Ala)
c.2963A>C (p.Glu988Ala)
c.3353A>C (p.Glu1118Ala)
c.3260A>C (p.Glu1087Ala)
c.2735A>C (p.Glu912Ala)
c.3050A>C (p.Glu1017Ala)
n.7622A>C
3g.9473279A>GCA351684947SETD5n.1709A>G
c.3335A>G (p.Glu1112Gly)
n.3743A>G
n.808A>G
n.4314A>G
n.4670A>G
c.3239A>G (p.Glu1080Gly)
c.*3385A>G (n.*3385A>G)
c.*3308A>G (n.*3308A>G)
c.*3613A>G (n.*3613A>G)
c.*3344A>G (n.*3344A>G)
c.2945A>G (p.Glu982Gly)
c.2241A>G
c.3296A>G (p.Glu1099Gly)
c.2275A>G
c.1230A>G
n.2580A>G
n.307A>G
n.44A>G
n.3403A>G
c.3413A>G (p.Glu1138Gly)
c.3392A>G (p.Glu1131Gly)
c.3374A>G (p.Glu1125Gly)
c.3356A>G (p.Glu1119Gly)
c.3317A>G (p.Glu1106Gly)
c.3278A>G (p.Glu1093Gly)
c.3002A>G (p.Glu1001Gly)
c.2963A>G (p.Glu988Gly)
c.3353A>G (p.Glu1118Gly)
c.3260A>G (p.Glu1087Gly)
c.2735A>G (p.Glu912Gly)
c.3050A>G (p.Glu1017Gly)
n.7622A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9473279A>TCA351684948SETD5n.1709A>T
c.3335A>T (p.Glu1112Val)
n.3743A>T
n.808A>T
n.4314A>T
n.4670A>T
c.3239A>T (p.Glu1080Val)
c.*3385A>T (n.*3385A>T)
c.*3308A>T (n.*3308A>T)
c.*3613A>T (n.*3613A>T)
c.*3344A>T (n.*3344A>T)
c.2945A>T (p.Glu982Val)
c.2241A>T
c.3296A>T (p.Glu1099Val)
c.2275A>T
c.1230A>T
n.2580A>T
n.307A>T
n.44A>T
n.3403A>T
c.3413A>T (p.Glu1138Val)
c.3392A>T (p.Glu1131Val)
c.3374A>T (p.Glu1125Val)
c.3356A>T (p.Glu1119Val)
c.3317A>T (p.Glu1106Val)
c.3278A>T (p.Glu1093Val)
c.3002A>T (p.Glu1001Val)
c.2963A>T (p.Glu988Val)
c.3353A>T (p.Glu1118Val)
c.3260A>T (p.Glu1087Val)
c.2735A>T (p.Glu912Val)
c.3050A>T (p.Glu1017Val)
n.7622A>T
3g.9473280A>CCA351684949SETD5n.1710A>C
c.3336A>C (p.Glu1112Asp)
n.3744A>C
n.809A>C
n.4315A>C
n.4671A>C
c.3240A>C (p.Glu1080Asp)
c.*3386A>C (n.*3386A>C)
c.*3309A>C (n.*3309A>C)
c.*3614A>C (n.*3614A>C)
c.*3345A>C (n.*3345A>C)
c.2946A>C (p.Glu982Asp)
c.2242A>C
c.3297A>C (p.Glu1099Asp)
c.2276A>C
c.1231A>C
n.2581A>C
n.308A>C
n.45A>C
n.3404A>C
c.3414A>C (p.Glu1138Asp)
c.3393A>C (p.Glu1131Asp)
c.3375A>C (p.Glu1125Asp)
c.3357A>C (p.Glu1119Asp)
c.3318A>C (p.Glu1106Asp)
c.3279A>C (p.Glu1093Asp)
c.3003A>C (p.Glu1001Asp)
c.2964A>C (p.Glu988Asp)
c.3354A>C (p.Glu1118Asp)
c.3261A>C (p.Glu1087Asp)
c.2736A>C (p.Glu912Asp)
c.3051A>C (p.Glu1017Asp)
n.7623A>C
3g.9473280A>GCA432365723SETD5n.1710A>G
c.3336A>G (p.Glu1112=)
n.3744A>G
n.809A>G
n.4315A>G
n.4671A>G
c.3240A>G (p.Glu1080=)
c.*3386A>G (n.*3386A>G)
c.*3309A>G (n.*3309A>G)
c.*3614A>G (n.*3614A>G)
c.*3345A>G (n.*3345A>G)
c.2946A>G (p.Glu982=)
c.2242A>G
c.3297A>G (p.Glu1099=)
c.2276A>G
c.1231A>G
n.2581A>G
n.308A>G
n.45A>G
n.3404A>G
c.3414A>G (p.Glu1138=)
c.3393A>G (p.Glu1131=)
c.3375A>G (p.Glu1125=)
c.3357A>G (p.Glu1119=)
c.3318A>G (p.Glu1106=)
c.3279A>G (p.Glu1093=)
c.3003A>G (p.Glu1001=)
c.2964A>G (p.Glu988=)
c.3354A>G (p.Glu1118=)
c.3261A>G (p.Glu1087=)
c.2736A>G (p.Glu912=)
c.3051A>G (p.Glu1017=)
n.7623A>G
3g.9473280A>TCA351684952SETD5n.1710A>T
c.3336A>T (p.Glu1112Asp)
n.3744A>T
n.809A>T
n.4315A>T
n.4671A>T
c.3240A>T (p.Glu1080Asp)
c.*3386A>T (n.*3386A>T)
c.*3309A>T (n.*3309A>T)
c.*3614A>T (n.*3614A>T)
c.*3345A>T (n.*3345A>T)
c.2946A>T (p.Glu982Asp)
c.2242A>T
c.3297A>T (p.Glu1099Asp)
c.2276A>T
c.1231A>T
n.2581A>T
n.308A>T
n.45A>T
n.3404A>T
c.3414A>T (p.Glu1138Asp)
c.3393A>T (p.Glu1131Asp)
c.3375A>T (p.Glu1125Asp)
c.3357A>T (p.Glu1119Asp)
c.3318A>T (p.Glu1106Asp)
c.3279A>T (p.Glu1093Asp)
c.3003A>T (p.Glu1001Asp)
c.2964A>T (p.Glu988Asp)
c.3354A>T (p.Glu1118Asp)
c.3261A>T (p.Glu1087Asp)
c.2736A>T (p.Glu912Asp)
c.3051A>T (p.Glu1017Asp)
n.7623A>T
3g.9473281A>CCA351684970SETD5n.1711A>C
c.3337A>C (p.Asn1113His)
n.3745A>C
n.810A>C
n.4316A>C
n.4672A>C
c.3241A>C (p.Asn1081His)
c.*3387A>C (n.*3387A>C)
c.*3310A>C (n.*3310A>C)
c.*3615A>C (n.*3615A>C)
c.*3346A>C (n.*3346A>C)
c.2947A>C (p.Asn983His)
c.2243A>C
c.3298A>C (p.Asn1100His)
c.2277A>C
c.1232A>C
n.2582A>C
n.309A>C
n.46A>C
n.3405A>C
c.3415A>C (p.Asn1139His)
c.3394A>C (p.Asn1132His)
c.3376A>C (p.Asn1126His)
c.3358A>C (p.Asn1120His)
c.3319A>C (p.Asn1107His)
c.3280A>C (p.Asn1094His)
c.3004A>C (p.Asn1002His)
c.2965A>C (p.Asn989His)
c.3355A>C (p.Asn1119His)
c.3262A>C (p.Asn1088His)
c.2737A>C (p.Asn913His)
c.3052A>C (p.Asn1018His)
n.7624A>C
3g.9473281A>GCA351684964SETD5n.1711A>G
c.3337A>G (p.Asn1113Asp)
n.3745A>G
n.810A>G
n.4316A>G
n.4672A>G
c.3241A>G (p.Asn1081Asp)
c.*3387A>G (n.*3387A>G)
c.*3310A>G (n.*3310A>G)
c.*3615A>G (n.*3615A>G)
c.*3346A>G (n.*3346A>G)
c.2947A>G (p.Asn983Asp)
c.2243A>G
c.3298A>G (p.Asn1100Asp)
c.2277A>G
c.1232A>G
n.2582A>G
n.309A>G
n.46A>G
n.3405A>G
c.3415A>G (p.Asn1139Asp)
c.3394A>G (p.Asn1132Asp)
c.3376A>G (p.Asn1126Asp)
c.3358A>G (p.Asn1120Asp)
c.3319A>G (p.Asn1107Asp)
c.3280A>G (p.Asn1094Asp)
c.3004A>G (p.Asn1002Asp)
c.2965A>G (p.Asn989Asp)
c.3355A>G (p.Asn1119Asp)
c.3262A>G (p.Asn1088Asp)
c.2737A>G (p.Asn913Asp)
c.3052A>G (p.Asn1018Asp)
n.7624A>G
3g.9473281A>TCA351684959SETD5n.1711A>T
c.3337A>T (p.Asn1113Tyr)
n.3745A>T
n.810A>T
n.4316A>T
n.4672A>T
c.3241A>T (p.Asn1081Tyr)
c.*3387A>T (n.*3387A>T)
c.*3310A>T (n.*3310A>T)
c.*3615A>T (n.*3615A>T)
c.*3346A>T (n.*3346A>T)
c.2947A>T (p.Asn983Tyr)
c.2243A>T
c.3298A>T (p.Asn1100Tyr)
c.2277A>T
c.1232A>T
n.2582A>T
n.309A>T
n.46A>T
n.3405A>T
c.3415A>T (p.Asn1139Tyr)
c.3394A>T (p.Asn1132Tyr)
c.3376A>T (p.Asn1126Tyr)
c.3358A>T (p.Asn1120Tyr)
c.3319A>T (p.Asn1107Tyr)
c.3280A>T (p.Asn1094Tyr)
c.3004A>T (p.Asn1002Tyr)
c.2965A>T (p.Asn989Tyr)
c.3355A>T (p.Asn1119Tyr)
c.3262A>T (p.Asn1088Tyr)
c.2737A>T (p.Asn913Tyr)
c.3052A>T (p.Asn1018Tyr)
n.7624A>T
 gnomAD v4
3g.9473282A>CCA351684975SETD5n.1712A>C
c.3338A>C (p.Asn1113Thr)
n.3746A>C
n.811A>C
n.4317A>C
n.4673A>C
c.3242A>C (p.Asn1081Thr)
c.*3388A>C (n.*3388A>C)
c.*3311A>C (n.*3311A>C)
c.*3616A>C (n.*3616A>C)
c.*3347A>C (n.*3347A>C)
c.2948A>C (p.Asn983Thr)
c.2244A>C
c.3299A>C (p.Asn1100Thr)
c.2278A>C
c.1233A>C
n.2583A>C
n.310A>C
n.47A>C
n.3406A>C
c.3416A>C (p.Asn1139Thr)
c.3395A>C (p.Asn1132Thr)
c.3377A>C (p.Asn1126Thr)
c.3359A>C (p.Asn1120Thr)
c.3320A>C (p.Asn1107Thr)
c.3281A>C (p.Asn1094Thr)
c.3005A>C (p.Asn1002Thr)
c.2966A>C (p.Asn989Thr)
c.3356A>C (p.Asn1119Thr)
c.3263A>C (p.Asn1088Thr)
c.2738A>C (p.Asn913Thr)
c.3053A>C (p.Asn1018Thr)
n.7625A>C
3g.9473282A>GCA351684976SETD5n.1712A>G
c.3338A>G (p.Asn1113Ser)
n.3746A>G
n.811A>G
n.4317A>G
n.4673A>G
c.3242A>G (p.Asn1081Ser)
c.*3388A>G (n.*3388A>G)
c.*3311A>G (n.*3311A>G)
c.*3616A>G (n.*3616A>G)
c.*3347A>G (n.*3347A>G)
c.2948A>G (p.Asn983Ser)
c.2244A>G
c.3299A>G (p.Asn1100Ser)
c.2278A>G
c.1233A>G
n.2583A>G
n.310A>G
n.47A>G
n.3406A>G
c.3416A>G (p.Asn1139Ser)
c.3395A>G (p.Asn1132Ser)
c.3377A>G (p.Asn1126Ser)
c.3359A>G (p.Asn1120Ser)
c.3320A>G (p.Asn1107Ser)
c.3281A>G (p.Asn1094Ser)
c.3005A>G (p.Asn1002Ser)
c.2966A>G (p.Asn989Ser)
c.3356A>G (p.Asn1119Ser)
c.3263A>G (p.Asn1088Ser)
c.2738A>G (p.Asn913Ser)
c.3053A>G (p.Asn1018Ser)
n.7625A>G
3g.9473282A>TCA351684977SETD5n.1712A>T
c.3338A>T (p.Asn1113Ile)
n.3746A>T
n.811A>T
n.4317A>T
n.4673A>T
c.3242A>T (p.Asn1081Ile)
c.*3388A>T (n.*3388A>T)
c.*3311A>T (n.*3311A>T)
c.*3616A>T (n.*3616A>T)
c.*3347A>T (n.*3347A>T)
c.2948A>T (p.Asn983Ile)
c.2244A>T
c.3299A>T (p.Asn1100Ile)
c.2278A>T
c.1233A>T
n.2583A>T
n.310A>T
n.47A>T
n.3406A>T
c.3416A>T (p.Asn1139Ile)
c.3395A>T (p.Asn1132Ile)
c.3377A>T (p.Asn1126Ile)
c.3359A>T (p.Asn1120Ile)
c.3320A>T (p.Asn1107Ile)
c.3281A>T (p.Asn1094Ile)
c.3005A>T (p.Asn1002Ile)
c.2966A>T (p.Asn989Ile)
c.3356A>T (p.Asn1119Ile)
c.3263A>T (p.Asn1088Ile)
c.2738A>T (p.Asn913Ile)
c.3053A>T (p.Asn1018Ile)
n.7625A>T
3g.9473283T>ACA351684980SETD5n.1713T>A
c.3339T>A (p.Asn1113Lys)
n.3747T>A
n.812T>A
n.4318T>A
n.4674T>A
c.3243T>A (p.Asn1081Lys)
c.*3389T>A (n.*3389T>A)
c.*3312T>A (n.*3312T>A)
c.*3617T>A (n.*3617T>A)
c.*3348T>A (n.*3348T>A)
c.2949T>A (p.Asn983Lys)
c.2245T>A
c.3300T>A (p.Asn1100Lys)
c.2279T>A
c.1234T>A
n.2584T>A
n.311T>A
n.48T>A
n.3407T>A
c.3417T>A (p.Asn1139Lys)
c.3396T>A (p.Asn1132Lys)
c.3378T>A (p.Asn1126Lys)
c.3360T>A (p.Asn1120Lys)
c.3321T>A (p.Asn1107Lys)
c.3282T>A (p.Asn1094Lys)
c.3006T>A (p.Asn1002Lys)
c.2967T>A (p.Asn989Lys)
c.3357T>A (p.Asn1119Lys)
c.3264T>A (p.Asn1088Lys)
c.2739T>A (p.Asn913Lys)
c.3054T>A (p.Asn1018Lys)
n.7626T>A
3g.9473283T>CCA432365724SETD5n.1713T>C
c.3339T>C (p.Asn1113=)
n.3747T>C
n.812T>C
n.4318T>C
n.4674T>C
c.3243T>C (p.Asn1081=)
c.*3389T>C (n.*3389T>C)
c.*3312T>C (n.*3312T>C)
c.*3617T>C (n.*3617T>C)
c.*3348T>C (n.*3348T>C)
c.2949T>C (p.Asn983=)
c.2245T>C
c.3300T>C (p.Asn1100=)
c.2279T>C
c.1234T>C
n.2584T>C
n.311T>C
n.48T>C
n.3407T>C
c.3417T>C (p.Asn1139=)
c.3396T>C (p.Asn1132=)
c.3378T>C (p.Asn1126=)
c.3360T>C (p.Asn1120=)
c.3321T>C (p.Asn1107=)
c.3282T>C (p.Asn1094=)
c.3006T>C (p.Asn1002=)
c.2967T>C (p.Asn989=)
c.3357T>C (p.Asn1119=)
c.3264T>C (p.Asn1088=)
c.2739T>C (p.Asn913=)
c.3054T>C (p.Asn1018=)
n.7626T>C
3g.9473283T>GCA351684984SETD5n.1713T>G
c.3339T>G (p.Asn1113Lys)
n.3747T>G
n.812T>G
n.4318T>G
n.4674T>G
c.3243T>G (p.Asn1081Lys)
c.*3389T>G (n.*3389T>G)
c.*3312T>G (n.*3312T>G)
c.*3617T>G (n.*3617T>G)
c.*3348T>G (n.*3348T>G)
c.2949T>G (p.Asn983Lys)
c.2245T>G
c.3300T>G (p.Asn1100Lys)
c.2279T>G
c.1234T>G
n.2584T>G
n.311T>G
n.48T>G
n.3407T>G
c.3417T>G (p.Asn1139Lys)
c.3396T>G (p.Asn1132Lys)
c.3378T>G (p.Asn1126Lys)
c.3360T>G (p.Asn1120Lys)
c.3321T>G (p.Asn1107Lys)
c.3282T>G (p.Asn1094Lys)
c.3006T>G (p.Asn1002Lys)
c.2967T>G (p.Asn989Lys)
c.3357T>G (p.Asn1119Lys)
c.3264T>G (p.Asn1088Lys)
c.2739T>G (p.Asn913Lys)
c.3054T>G (p.Asn1018Lys)
n.7626T>G
3g.9473284T>ACA351684986SETD5n.1714T>A
c.3340T>A (p.Ser1114Thr)
n.3748T>A
n.813T>A
n.4319T>A
n.4675T>A
c.3244T>A (p.Ser1082Thr)
c.*3390T>A (n.*3390T>A)
c.*3313T>A (n.*3313T>A)
c.*3618T>A (n.*3618T>A)
c.*3349T>A (n.*3349T>A)
c.2950T>A (p.Ser984Thr)
c.2246T>A
c.3301T>A (p.Ser1101Thr)
c.2280T>A
c.1235T>A
n.2585T>A
n.312T>A
n.49T>A
n.3408T>A
c.3418T>A (p.Ser1140Thr)
c.3397T>A (p.Ser1133Thr)
c.3379T>A (p.Ser1127Thr)
c.3361T>A (p.Ser1121Thr)
c.3322T>A (p.Ser1108Thr)
c.3283T>A (p.Ser1095Thr)
c.3007T>A (p.Ser1003Thr)
c.2968T>A (p.Ser990Thr)
c.3358T>A (p.Ser1120Thr)
c.3265T>A (p.Ser1089Thr)
c.2740T>A (p.Ser914Thr)
c.3055T>A (p.Ser1019Thr)
n.7627T>A
3g.9473284T>CCA351684990SETD5n.1714T>C
c.3340T>C (p.Ser1114Pro)
n.3748T>C
n.813T>C
n.4319T>C
n.4675T>C
c.3244T>C (p.Ser1082Pro)
c.*3390T>C (n.*3390T>C)
c.*3313T>C (n.*3313T>C)
c.*3618T>C (n.*3618T>C)
c.*3349T>C (n.*3349T>C)
c.2950T>C (p.Ser984Pro)
c.2246T>C
c.3301T>C (p.Ser1101Pro)
c.2280T>C
c.1235T>C
n.2585T>C
n.312T>C
n.49T>C
n.3408T>C
c.3418T>C (p.Ser1140Pro)
c.3397T>C (p.Ser1133Pro)
c.3379T>C (p.Ser1127Pro)
c.3361T>C (p.Ser1121Pro)
c.3322T>C (p.Ser1108Pro)
c.3283T>C (p.Ser1095Pro)
c.3007T>C (p.Ser1003Pro)
c.2968T>C (p.Ser990Pro)
c.3358T>C (p.Ser1120Pro)
c.3265T>C (p.Ser1089Pro)
c.2740T>C (p.Ser914Pro)
c.3055T>C (p.Ser1019Pro)
n.7627T>C
3g.9473284T>GCA351684995SETD5n.1714T>G
c.3340T>G (p.Ser1114Ala)
n.3748T>G
n.813T>G
n.4319T>G
n.4675T>G
c.3244T>G (p.Ser1082Ala)
c.*3390T>G (n.*3390T>G)
c.*3313T>G (n.*3313T>G)
c.*3618T>G (n.*3618T>G)
c.*3349T>G (n.*3349T>G)
c.2950T>G (p.Ser984Ala)
c.2246T>G
c.3301T>G (p.Ser1101Ala)
c.2280T>G
c.1235T>G
n.2585T>G
n.312T>G
n.49T>G
n.3408T>G
c.3418T>G (p.Ser1140Ala)
c.3397T>G (p.Ser1133Ala)
c.3379T>G (p.Ser1127Ala)
c.3361T>G (p.Ser1121Ala)
c.3322T>G (p.Ser1108Ala)
c.3283T>G (p.Ser1095Ala)
c.3007T>G (p.Ser1003Ala)
c.2968T>G (p.Ser990Ala)
c.3358T>G (p.Ser1120Ala)
c.3265T>G (p.Ser1089Ala)
c.2740T>G (p.Ser914Ala)
c.3055T>G (p.Ser1019Ala)
n.7627T>G
3g.9473285C>ACA351684999SETD5n.1715C>A
c.3341C>A (p.Ser1114Tyr)
n.3749C>A
n.814C>A
n.4320C>A
n.4676C>A
c.3245C>A (p.Ser1082Tyr)
c.*3391C>A (n.*3391C>A)
c.*3314C>A (n.*3314C>A)
c.*3619C>A (n.*3619C>A)
c.*3350C>A (n.*3350C>A)
c.2951C>A (p.Ser984Tyr)
c.2247C>A
c.3302C>A (p.Ser1101Tyr)
c.2281C>A
c.1236C>A
n.2586C>A
n.313C>A
n.50C>A
n.3409C>A
c.3419C>A (p.Ser1140Tyr)
c.3398C>A (p.Ser1133Tyr)
c.3380C>A (p.Ser1127Tyr)
c.3362C>A (p.Ser1121Tyr)
c.3323C>A (p.Ser1108Tyr)
c.3284C>A (p.Ser1095Tyr)
c.3008C>A (p.Ser1003Tyr)
c.2969C>A (p.Ser990Tyr)
c.3359C>A (p.Ser1120Tyr)
c.3266C>A (p.Ser1089Tyr)
c.2741C>A (p.Ser914Tyr)
c.3056C>A (p.Ser1019Tyr)
n.7628C>A
3g.9473285C=CA1344740060SETD5n.1715C=
c.3341C= (p.Ser1114=)
n.3749C=
n.814C=
n.4320C=
n.4676C=
c.3245C= (p.Ser1082=)
c.*3391C= (n.*3391C=)
c.*3314C= (n.*3314C=)
c.*3619C= (n.*3619C=)
c.*3350C= (n.*3350C=)
c.2951C= (p.Ser984=)
c.2247C=
c.3302C= (p.Ser1101=)
c.2281C=
c.1236C=
n.2586C=
n.313C=
n.50C=
n.3409C=
c.3419C= (p.Ser1140=)
c.3398C= (p.Ser1133=)
c.3380C= (p.Ser1127=)
c.3362C= (p.Ser1121=)
c.3323C= (p.Ser1108=)
c.3284C= (p.Ser1095=)
c.3008C= (p.Ser1003=)
c.2969C= (p.Ser990=)
c.3359C= (p.Ser1120=)
c.3266C= (p.Ser1089=)
c.2741C= (p.Ser914=)
c.3056C= (p.Ser1019=)
n.7628C=
3g.9473285C>GCA351685002SETD5n.1715C>G
c.3341C>G (p.Ser1114Cys)
n.3749C>G
n.814C>G
n.4320C>G
n.4676C>G
c.3245C>G (p.Ser1082Cys)
c.*3391C>G (n.*3391C>G)
c.*3314C>G (n.*3314C>G)
c.*3619C>G (n.*3619C>G)
c.*3350C>G (n.*3350C>G)
c.2951C>G (p.Ser984Cys)
c.2247C>G
c.3302C>G (p.Ser1101Cys)
c.2281C>G
c.1236C>G
n.2586C>G
n.313C>G
n.50C>G
n.3409C>G
c.3419C>G (p.Ser1140Cys)
c.3398C>G (p.Ser1133Cys)
c.3380C>G (p.Ser1127Cys)
c.3362C>G (p.Ser1121Cys)
c.3323C>G (p.Ser1108Cys)
c.3284C>G (p.Ser1095Cys)
c.3008C>G (p.Ser1003Cys)
c.2969C>G (p.Ser990Cys)
c.3359C>G (p.Ser1120Cys)
c.3266C>G (p.Ser1089Cys)
c.2741C>G (p.Ser914Cys)
c.3056C>G (p.Ser1019Cys)
n.7628C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.9473285C>TCA351685007SETD5n.1715C>T
c.3341C>T (p.Ser1114Phe)
n.3749C>T
n.814C>T
n.4320C>T
n.4676C>T
c.3245C>T (p.Ser1082Phe)
c.*3391C>T (n.*3391C>T)
c.*3314C>T (n.*3314C>T)
c.*3619C>T (n.*3619C>T)
c.*3350C>T (n.*3350C>T)
c.2951C>T (p.Ser984Phe)
c.2247C>T
c.3302C>T (p.Ser1101Phe)
c.2281C>T
c.1236C>T
n.2586C>T
n.313C>T
n.50C>T
n.3409C>T
c.3419C>T (p.Ser1140Phe)
c.3398C>T (p.Ser1133Phe)
c.3380C>T (p.Ser1127Phe)
c.3362C>T (p.Ser1121Phe)
c.3323C>T (p.Ser1108Phe)
c.3284C>T (p.Ser1095Phe)
c.3008C>T (p.Ser1003Phe)
c.2969C>T (p.Ser990Phe)
c.3359C>T (p.Ser1120Phe)
c.3266C>T (p.Ser1089Phe)
c.2741C>T (p.Ser914Phe)
c.3056C>T (p.Ser1019Phe)
n.7628C>T
 gnomAD v4
3g.9473285_9473286delinsCTCA1344740058SETD5n.1715_1716delinsCT
c.3341_3342delinsCT (p.Ser1114=)
n.3749_3750delinsCT
n.814_815delinsCT
n.4320_4321delinsCT
n.4676_4677delinsCT
c.3245_3246delinsCT (p.Ser1082=)
c.*3391_*3392delinsCT (n.*3391_*3392delinsCT)
c.*3314_*3315delinsCT (n.*3314_*3315delinsCT)
c.*3619_*3620delinsCT (n.*3619_*3620delinsCT)
c.*3350_*3351delinsCT (n.*3350_*3351delinsCT)
c.2951_2952delinsCT (p.Ser984=)
c.2247_2248delinsCT
c.3302_3303delinsCT (p.Ser1101=)
c.2281_2282delinsCT
c.1236_1237delinsCT
n.2586_2587delinsCT
n.313_314delinsCT
n.50_51delinsCT
n.3409_3410delinsCT
c.3419_3420delinsCT (p.Ser1140=)
c.3398_3399delinsCT (p.Ser1133=)
c.3380_3381delinsCT (p.Ser1127=)
c.3362_3363delinsCT (p.Ser1121=)
c.3323_3324delinsCT (p.Ser1108=)
c.3284_3285delinsCT (p.Ser1095=)
c.3008_3009delinsCT (p.Ser1003=)
c.2969_2970delinsCT (p.Ser990=)
c.3359_3360delinsCT (p.Ser1120=)
c.3266_3267delinsCT (p.Ser1089=)
c.2741_2742delinsCT (p.Ser914=)
c.3056_3057delinsCT (p.Ser1019=)
n.7628_7629delinsCT
3g.9473288_9473290delCA2664307973SETD5n.1718_1720del
c.3344_3346del (p.Ala1115del)
n.3752_3754del
n.817_819del
n.4323_4325del
n.4679_4681del
c.3248_3250del (p.Ala1083del)
c.*3394_*3396del (n.*3394_*3396del)
c.*3317_*3319del (n.*3317_*3319del)
c.*3622_*3624del (n.*3622_*3624del)
c.*3353_*3355del (n.*3353_*3355del)
c.2954_2956del (p.Ala985del)
c.2250_2252del
c.3305_3307del (p.Ala1102del)
c.2284_2286del
c.1239_1241del
n.2589_2591del
n.316_318del
n.53_55del
n.3412_3414del
c.3422_3424del (p.Ala1141del)
c.3401_3403del (p.Ala1134del)
c.3383_3385del (p.Ala1128del)
c.3365_3367del (p.Ala1122del)
c.3326_3328del (p.Ala1109del)
c.3287_3289del (p.Ala1096del)
c.3011_3013del (p.Ala1004del)
c.2972_2974del (p.Ala991del)
c.3362_3364del (p.Ala1121del)
c.3269_3271del (p.Ala1090del)
c.2744_2746del (p.Ala915del)
c.3059_3061del (p.Ala1020del)
n.7631_7633del
 gnomAD v4
3g.9473286delCA10602897SETD5n.1716del
c.3342del (p.Ala1115LeufsTer?)
n.3750del
n.815del
n.4321del
n.4677del
c.3246del (p.Ala1083LeufsTer?)
c.*3392del (n.*3392del)
c.*3315del (n.*3315del)
c.*3620del (n.*3620del)
c.*3351del (n.*3351del)
c.2952del (p.Ala985LeufsTer?)
c.2248del
c.3303del (p.Ala1102LeufsTer?)
c.2282del
c.1237del
n.2587del
n.314del
n.51del
n.3410del
c.3420del (p.Ala1141LeufsTer?)
c.3399del (p.Ala1134LeufsTer?)
c.3381del (p.Ala1128LeufsTer?)
c.3363del (p.Ala1122LeufsTer?)
c.3324del (p.Ala1109LeufsTer?)
c.3285del (p.Ala1096LeufsTer?)
c.3009del (p.Ala1004LeufsTer?)
c.2970del (p.Ala991LeufsTer?)
c.3360del (p.Ala1121LeufsTer?)
c.3267del (p.Ala1090LeufsTer?)
c.2742del (p.Ala915LeufsTer?)
c.3057del (p.Ala1020LeufsTer?)
n.7629del
 ClinVar dbSNP
3g.9473286T>ACA432365725SETD5n.1716T>A
c.3342T>A (p.Ser1114=)
n.3750T>A
n.815T>A
n.4321T>A
n.4677T>A
c.3246T>A (p.Ser1082=)
c.*3392T>A (n.*3392T>A)
c.*3315T>A (n.*3315T>A)
c.*3620T>A (n.*3620T>A)
c.*3351T>A (n.*3351T>A)
c.2952T>A (p.Ser984=)
c.2248T>A
c.3303T>A (p.Ser1101=)
c.2282T>A
c.1237T>A
n.2587T>A
n.314T>A
n.51T>A
n.3410T>A
c.3420T>A (p.Ser1140=)
c.3399T>A (p.Ser1133=)
c.3381T>A (p.Ser1127=)
c.3363T>A (p.Ser1121=)
c.3324T>A (p.Ser1108=)
c.3285T>A (p.Ser1095=)
c.3009T>A (p.Ser1003=)
c.2970T>A (p.Ser990=)
c.3360T>A (p.Ser1120=)
c.3267T>A (p.Ser1089=)
c.2742T>A (p.Ser914=)
c.3057T>A (p.Ser1019=)
n.7629T>A
3g.9473286T>CCA432365727SETD5n.1716T>C
c.3342T>C (p.Ser1114=)
n.3750T>C
n.815T>C
n.4321T>C
n.4677T>C
c.3246T>C (p.Ser1082=)
c.*3392T>C (n.*3392T>C)
c.*3315T>C (n.*3315T>C)
c.*3620T>C (n.*3620T>C)
c.*3351T>C (n.*3351T>C)
c.2952T>C (p.Ser984=)
c.2248T>C
c.3303T>C (p.Ser1101=)
c.2282T>C
c.1237T>C
n.2587T>C
n.314T>C
n.51T>C
n.3410T>C
c.3420T>C (p.Ser1140=)
c.3399T>C (p.Ser1133=)
c.3381T>C (p.Ser1127=)
c.3363T>C (p.Ser1121=)
c.3324T>C (p.Ser1108=)
c.3285T>C (p.Ser1095=)
c.3009T>C (p.Ser1003=)
c.2970T>C (p.Ser990=)
c.3360T>C (p.Ser1120=)
c.3267T>C (p.Ser1089=)
c.2742T>C (p.Ser914=)
c.3057T>C (p.Ser1019=)
n.7629T>C
3g.9473286T>GCA432365726SETD5n.1716T>G
c.3342T>G (p.Ser1114=)
n.3750T>G
n.815T>G
n.4321T>G
n.4677T>G
c.3246T>G (p.Ser1082=)
c.*3392T>G (n.*3392T>G)
c.*3315T>G (n.*3315T>G)
c.*3620T>G (n.*3620T>G)
c.*3351T>G (n.*3351T>G)
c.2952T>G (p.Ser984=)
c.2248T>G
c.3303T>G (p.Ser1101=)
c.2282T>G
c.1237T>G
n.2587T>G
n.314T>G
n.51T>G
n.3410T>G
c.3420T>G (p.Ser1140=)
c.3399T>G (p.Ser1133=)
c.3381T>G (p.Ser1127=)
c.3363T>G (p.Ser1121=)
c.3324T>G (p.Ser1108=)
c.3285T>G (p.Ser1095=)
c.3009T>G (p.Ser1003=)
c.2970T>G (p.Ser990=)
c.3360T>G (p.Ser1120=)
c.3267T>G (p.Ser1089=)
c.2742T>G (p.Ser914=)
c.3057T>G (p.Ser1019=)
n.7629T>G
3g.9473287G>ACA351685029SETD5n.1717G>A
c.3343G>A (p.Ala1115Thr)
n.3751G>A
n.816G>A
n.4322G>A
n.4678G>A
c.3247G>A (p.Ala1083Thr)
c.*3393G>A (n.*3393G>A)
c.*3316G>A (n.*3316G>A)
c.*3621G>A (n.*3621G>A)
c.*3352G>A (n.*3352G>A)
c.2953G>A (p.Ala985Thr)
c.2249G>A
c.3304G>A (p.Ala1102Thr)
c.2283G>A
c.1238G>A
n.2588G>A
n.315G>A
n.52G>A
n.3411G>A
c.3421G>A (p.Ala1141Thr)
c.3400G>A (p.Ala1134Thr)
c.3382G>A (p.Ala1128Thr)
c.3364G>A (p.Ala1122Thr)
c.3325G>A (p.Ala1109Thr)
c.3286G>A (p.Ala1096Thr)
c.3010G>A (p.Ala1004Thr)
c.2971G>A (p.Ala991Thr)
c.3361G>A (p.Ala1121Thr)
c.3268G>A (p.Ala1090Thr)
c.2743G>A (p.Ala915Thr)
c.3058G>A (p.Ala1020Thr)
n.7630G>A
3g.9473287G>CCA351685034SETD5n.1717G>C
c.3343G>C (p.Ala1115Pro)
n.3751G>C
n.816G>C
n.4322G>C
n.4678G>C
c.3247G>C (p.Ala1083Pro)
c.*3393G>C (n.*3393G>C)
c.*3316G>C (n.*3316G>C)
c.*3621G>C (n.*3621G>C)
c.*3352G>C (n.*3352G>C)
c.2953G>C (p.Ala985Pro)
c.2249G>C
c.3304G>C (p.Ala1102Pro)
c.2283G>C
c.1238G>C
n.2588G>C
n.315G>C
n.52G>C
n.3411G>C
c.3421G>C (p.Ala1141Pro)
c.3400G>C (p.Ala1134Pro)
c.3382G>C (p.Ala1128Pro)
c.3364G>C (p.Ala1122Pro)
c.3325G>C (p.Ala1109Pro)
c.3286G>C (p.Ala1096Pro)
c.3010G>C (p.Ala1004Pro)
c.2971G>C (p.Ala991Pro)
c.3361G>C (p.Ala1121Pro)
c.3268G>C (p.Ala1090Pro)
c.2743G>C (p.Ala915Pro)
c.3058G>C (p.Ala1020Pro)
n.7630G>C
 dbSNP
3g.9473287G=CA1344740063SETD5n.1717G=
c.3343G= (p.Ala1115=)
n.3751G=
n.816G=
n.4322G=
n.4678G=
c.3247G= (p.Ala1083=)
c.*3393G= (n.*3393G=)
c.*3316G= (n.*3316G=)
c.*3621G= (n.*3621G=)
c.*3352G= (n.*3352G=)
c.2953G= (p.Ala985=)
c.2249G=
c.3304G= (p.Ala1102=)
c.2283G=
c.1238G=
n.2588G=
n.315G=
n.52G=
n.3411G=
c.3421G= (p.Ala1141=)
c.3400G= (p.Ala1134=)
c.3382G= (p.Ala1128=)
c.3364G= (p.Ala1122=)
c.3325G= (p.Ala1109=)
c.3286G= (p.Ala1096=)
c.3010G= (p.Ala1004=)
c.2971G= (p.Ala991=)
c.3361G= (p.Ala1121=)
c.3268G= (p.Ala1090=)
c.2743G= (p.Ala915=)
c.3058G= (p.Ala1020=)
n.7630G=
3g.9473287G>TCA351685020SETD5n.1717G>T
c.3343G>T (p.Ala1115Ser)
n.3751G>T
n.816G>T
n.4322G>T
n.4678G>T
c.3247G>T (p.Ala1083Ser)
c.*3393G>T (n.*3393G>T)
c.*3316G>T (n.*3316G>T)
c.*3621G>T (n.*3621G>T)
c.*3352G>T (n.*3352G>T)
c.2953G>T (p.Ala985Ser)
c.2249G>T
c.3304G>T (p.Ala1102Ser)
c.2283G>T
c.1238G>T
n.2588G>T
n.315G>T
n.52G>T
n.3411G>T
c.3421G>T (p.Ala1141Ser)
c.3400G>T (p.Ala1134Ser)
c.3382G>T (p.Ala1128Ser)
c.3364G>T (p.Ala1122Ser)
c.3325G>T (p.Ala1109Ser)
c.3286G>T (p.Ala1096Ser)
c.3010G>T (p.Ala1004Ser)
c.2971G>T (p.Ala991Ser)
c.3361G>T (p.Ala1121Ser)
c.3268G>T (p.Ala1090Ser)
c.2743G>T (p.Ala915Ser)
c.3058G>T (p.Ala1020Ser)
n.7630G>T
3g.9473288C>ACA351685035SETD5n.1718C>A
c.3344C>A (p.Ala1115Asp)
n.3752C>A
n.817C>A
n.4323C>A
n.4679C>A
c.3248C>A (p.Ala1083Asp)
c.*3394C>A (n.*3394C>A)
c.*3317C>A (n.*3317C>A)
c.*3622C>A (n.*3622C>A)
c.*3353C>A (n.*3353C>A)
c.2954C>A (p.Ala985Asp)
c.2250C>A
c.3305C>A (p.Ala1102Asp)
c.2284C>A
c.1239C>A
n.2589C>A
n.316C>A
n.53C>A
n.3412C>A
c.3422C>A (p.Ala1141Asp)
c.3401C>A (p.Ala1134Asp)
c.3383C>A (p.Ala1128Asp)
c.3365C>A (p.Ala1122Asp)
c.3326C>A (p.Ala1109Asp)
c.3287C>A (p.Ala1096Asp)
c.3011C>A (p.Ala1004Asp)
c.2972C>A (p.Ala991Asp)
c.3362C>A (p.Ala1121Asp)
c.3269C>A (p.Ala1090Asp)
c.2744C>A (p.Ala915Asp)
c.3059C>A (p.Ala1020Asp)
n.7631C>A
3g.9473288C=CA1344740065SETD5n.1718C=
c.3344C= (p.Ala1115=)
n.3752C=
n.817C=
n.4323C=
n.4679C=
c.3248C= (p.Ala1083=)
c.*3394C= (n.*3394C=)
c.*3317C= (n.*3317C=)
c.*3622C= (n.*3622C=)
c.*3353C= (n.*3353C=)
c.2954C= (p.Ala985=)
c.2250C=
c.3305C= (p.Ala1102=)
c.2284C=
c.1239C=
n.2589C=
n.316C=
n.53C=
n.3412C=
c.3422C= (p.Ala1141=)
c.3401C= (p.Ala1134=)
c.3383C= (p.Ala1128=)
c.3365C= (p.Ala1122=)
c.3326C= (p.Ala1109=)
c.3287C= (p.Ala1096=)
c.3011C= (p.Ala1004=)
c.2972C= (p.Ala991=)
c.3362C= (p.Ala1121=)
c.3269C= (p.Ala1090=)
c.2744C= (p.Ala915=)
c.3059C= (p.Ala1020=)
n.7631C=
3g.9473288C>GCA351685036SETD5n.1718C>G
c.3344C>G (p.Ala1115Gly)
n.3752C>G
n.817C>G
n.4323C>G
n.4679C>G
c.3248C>G (p.Ala1083Gly)
c.*3394C>G (n.*3394C>G)
c.*3317C>G (n.*3317C>G)
c.*3622C>G (n.*3622C>G)
c.*3353C>G (n.*3353C>G)
c.2954C>G (p.Ala985Gly)
c.2250C>G
c.3305C>G (p.Ala1102Gly)
c.2284C>G
c.1239C>G
n.2589C>G
n.316C>G
n.53C>G
n.3412C>G
c.3422C>G (p.Ala1141Gly)
c.3401C>G (p.Ala1134Gly)
c.3383C>G (p.Ala1128Gly)
c.3365C>G (p.Ala1122Gly)
c.3326C>G (p.Ala1109Gly)
c.3287C>G (p.Ala1096Gly)
c.3011C>G (p.Ala1004Gly)
c.2972C>G (p.Ala991Gly)
c.3362C>G (p.Ala1121Gly)
c.3269C>G (p.Ala1090Gly)
c.2744C>G (p.Ala915Gly)
c.3059C>G (p.Ala1020Gly)
n.7631C>G
3g.9473288C>TCA351685040SETD5n.1718C>T
c.3344C>T (p.Ala1115Val)
n.3752C>T
n.817C>T
n.4323C>T
n.4679C>T
c.3248C>T (p.Ala1083Val)
c.*3394C>T (n.*3394C>T)
c.*3317C>T (n.*3317C>T)
c.*3622C>T (n.*3622C>T)
c.*3353C>T (n.*3353C>T)
c.2954C>T (p.Ala985Val)
c.2250C>T
c.3305C>T (p.Ala1102Val)
c.2284C>T
c.1239C>T
n.2589C>T
n.316C>T
n.53C>T
n.3412C>T
c.3422C>T (p.Ala1141Val)
c.3401C>T (p.Ala1134Val)
c.3383C>T (p.Ala1128Val)
c.3365C>T (p.Ala1122Val)
c.3326C>T (p.Ala1109Val)
c.3287C>T (p.Ala1096Val)
c.3011C>T (p.Ala1004Val)
c.2972C>T (p.Ala991Val)
c.3362C>T (p.Ala1121Val)
c.3269C>T (p.Ala1090Val)
c.2744C>T (p.Ala915Val)
c.3059C>T (p.Ala1020Val)
n.7631C>T
 dbSNP gnomAD v2
3g.9473289T>ACA432365728SETD5n.1719T>A
c.3345T>A (p.Ala1115=)
n.3753T>A
n.818T>A
n.4324T>A
n.4680T>A
c.3249T>A (p.Ala1083=)
c.*3395T>A (n.*3395T>A)
c.*3318T>A (n.*3318T>A)
c.*3623T>A (n.*3623T>A)
c.*3354T>A (n.*3354T>A)
c.2955T>A (p.Ala985=)
c.2251T>A
c.3306T>A (p.Ala1102=)
c.2285T>A
c.1240T>A
n.2590T>A
n.317T>A
n.54T>A
n.3413T>A
c.3423T>A (p.Ala1141=)
c.3402T>A (p.Ala1134=)
c.3384T>A (p.Ala1128=)
c.3366T>A (p.Ala1122=)
c.3327T>A (p.Ala1109=)
c.3288T>A (p.Ala1096=)
c.3012T>A (p.Ala1004=)
c.2973T>A (p.Ala991=)
c.3363T>A (p.Ala1121=)
c.3270T>A (p.Ala1090=)
c.2745T>A (p.Ala915=)
c.3060T>A (p.Ala1020=)
n.7632T>A
3g.9473289T>CCA432365729SETD5n.1719T>C
c.3345T>C (p.Ala1115=)
n.3753T>C
n.818T>C
n.4324T>C
n.4680T>C
c.3249T>C (p.Ala1083=)
c.*3395T>C (n.*3395T>C)
c.*3318T>C (n.*3318T>C)
c.*3623T>C (n.*3623T>C)
c.*3354T>C (n.*3354T>C)
c.2955T>C (p.Ala985=)
c.2251T>C
c.3306T>C (p.Ala1102=)
c.2285T>C
c.1240T>C
n.2590T>C
n.317T>C
n.54T>C
n.3413T>C
c.3423T>C (p.Ala1141=)
c.3402T>C (p.Ala1134=)
c.3384T>C (p.Ala1128=)
c.3366T>C (p.Ala1122=)
c.3327T>C (p.Ala1109=)
c.3288T>C (p.Ala1096=)
c.3012T>C (p.Ala1004=)
c.2973T>C (p.Ala991=)
c.3363T>C (p.Ala1121=)
c.3270T>C (p.Ala1090=)
c.2745T>C (p.Ala915=)
c.3060T>C (p.Ala1020=)
n.7632T>C
3g.9473289T>GCA432365730SETD5n.1719T>G
c.3345T>G (p.Ala1115=)
n.3753T>G
n.818T>G
n.4324T>G
n.4680T>G
c.3249T>G (p.Ala1083=)
c.*3395T>G (n.*3395T>G)
c.*3318T>G (n.*3318T>G)
c.*3623T>G (n.*3623T>G)
c.*3354T>G (n.*3354T>G)
c.2955T>G (p.Ala985=)
c.2251T>G
c.3306T>G (p.Ala1102=)
c.2285T>G
c.1240T>G
n.2590T>G
n.317T>G
n.54T>G
n.3413T>G
c.3423T>G (p.Ala1141=)
c.3402T>G (p.Ala1134=)
c.3384T>G (p.Ala1128=)
c.3366T>G (p.Ala1122=)
c.3327T>G (p.Ala1109=)
c.3288T>G (p.Ala1096=)
c.3012T>G (p.Ala1004=)
c.2973T>G (p.Ala991=)
c.3363T>G (p.Ala1121=)
c.3270T>G (p.Ala1090=)
c.2745T>G (p.Ala915=)
c.3060T>G (p.Ala1020=)
n.7632T>G
3g.9473290G>ACA351685044SETD5n.1720G>A
c.3346G>A (p.Gly1116Ser)
n.3754G>A
n.819G>A
n.4325G>A
n.4681G>A
c.3250G>A (p.Gly1084Ser)
c.*3396G>A (n.*3396G>A)
c.*3319G>A (n.*3319G>A)
c.*3624G>A (n.*3624G>A)
c.*3355G>A (n.*3355G>A)
c.2956G>A (p.Gly986Ser)
c.2252G>A
c.3307G>A (p.Gly1103Ser)
c.2286G>A
c.1241G>A
n.2591G>A
n.318G>A
n.55G>A
n.3414G>A
c.3424G>A (p.Gly1142Ser)
c.3403G>A (p.Gly1135Ser)
c.3385G>A (p.Gly1129Ser)
c.3367G>A (p.Gly1123Ser)
c.3328G>A (p.Gly1110Ser)
c.3289G>A (p.Gly1097Ser)
c.3013G>A (p.Gly1005Ser)
c.2974G>A (p.Gly992Ser)
c.3364G>A (p.Gly1122Ser)
c.3271G>A (p.Gly1091Ser)
c.2746G>A (p.Gly916Ser)
c.3061G>A (p.Gly1021Ser)
n.7633G>A
3g.9473290G>CCA351685049SETD5n.1720G>C
c.3346G>C (p.Gly1116Arg)
n.3754G>C
n.819G>C
n.4325G>C
n.4681G>C
c.3250G>C (p.Gly1084Arg)
c.*3396G>C (n.*3396G>C)
c.*3319G>C (n.*3319G>C)
c.*3624G>C (n.*3624G>C)
c.*3355G>C (n.*3355G>C)
c.2956G>C (p.Gly986Arg)
c.2252G>C
c.3307G>C (p.Gly1103Arg)
c.2286G>C
c.1241G>C
n.2591G>C
n.318G>C
n.55G>C
n.3414G>C
c.3424G>C (p.Gly1142Arg)
c.3403G>C (p.Gly1135Arg)
c.3385G>C (p.Gly1129Arg)
c.3367G>C (p.Gly1123Arg)
c.3328G>C (p.Gly1110Arg)
c.3289G>C (p.Gly1097Arg)
c.3013G>C (p.Gly1005Arg)
c.2974G>C (p.Gly992Arg)
c.3364G>C (p.Gly1122Arg)
c.3271G>C (p.Gly1091Arg)
c.2746G>C (p.Gly916Arg)
c.3061G>C (p.Gly1021Arg)
n.7633G>C
3g.9473290G>TCA351685054SETD5n.1720G>T
c.3346G>T (p.Gly1116Cys)
n.3754G>T
n.819G>T
n.4325G>T
n.4681G>T
c.3250G>T (p.Gly1084Cys)
c.*3396G>T (n.*3396G>T)
c.*3319G>T (n.*3319G>T)
c.*3624G>T (n.*3624G>T)
c.*3355G>T (n.*3355G>T)
c.2956G>T (p.Gly986Cys)
c.2252G>T
c.3307G>T (p.Gly1103Cys)
c.2286G>T
c.1241G>T
n.2591G>T
n.318G>T
n.55G>T
n.3414G>T
c.3424G>T (p.Gly1142Cys)
c.3403G>T (p.Gly1135Cys)
c.3385G>T (p.Gly1129Cys)
c.3367G>T (p.Gly1123Cys)
c.3328G>T (p.Gly1110Cys)
c.3289G>T (p.Gly1097Cys)
c.3013G>T (p.Gly1005Cys)
c.2974G>T (p.Gly992Cys)
c.3364G>T (p.Gly1122Cys)
c.3271G>T (p.Gly1091Cys)
c.2746G>T (p.Gly916Cys)
c.3061G>T (p.Gly1021Cys)
n.7633G>T
3g.9473291G>ACA351685061SETD5n.1721G>A
c.3347G>A (p.Gly1116Asp)
n.3755G>A
n.820G>A
n.4326G>A
n.4682G>A
c.3251G>A (p.Gly1084Asp)
c.*3397G>A (n.*3397G>A)
c.*3320G>A (n.*3320G>A)
c.*3625G>A (n.*3625G>A)
c.*3356G>A (n.*3356G>A)
c.2957G>A (p.Gly986Asp)
c.2253G>A
c.3308G>A (p.Gly1103Asp)
c.2287G>A
c.1242G>A
n.2592G>A
n.319G>A
n.56G>A
n.3415G>A
c.3425G>A (p.Gly1142Asp)
c.3404G>A (p.Gly1135Asp)
c.3386G>A (p.Gly1129Asp)
c.3368G>A (p.Gly1123Asp)
c.3329G>A (p.Gly1110Asp)
c.3290G>A (p.Gly1097Asp)
c.3014G>A (p.Gly1005Asp)
c.2975G>A (p.Gly992Asp)
c.3365G>A (p.Gly1122Asp)
c.3272G>A (p.Gly1091Asp)
c.2747G>A (p.Gly916Asp)
c.3062G>A (p.Gly1021Asp)
n.7634G>A
3g.9473291G>CCA351685063SETD5n.1721G>C
c.3347G>C (p.Gly1116Ala)
n.3755G>C
n.820G>C
n.4326G>C
n.4682G>C
c.3251G>C (p.Gly1084Ala)
c.*3397G>C (n.*3397G>C)
c.*3320G>C (n.*3320G>C)
c.*3625G>C (n.*3625G>C)
c.*3356G>C (n.*3356G>C)
c.2957G>C (p.Gly986Ala)
c.2253G>C
c.3308G>C (p.Gly1103Ala)
c.2287G>C
c.1242G>C
n.2592G>C
n.319G>C
n.56G>C
n.3415G>C
c.3425G>C (p.Gly1142Ala)
c.3404G>C (p.Gly1135Ala)
c.3386G>C (p.Gly1129Ala)
c.3368G>C (p.Gly1123Ala)
c.3329G>C (p.Gly1110Ala)
c.3290G>C (p.Gly1097Ala)
c.3014G>C (p.Gly1005Ala)
c.2975G>C (p.Gly992Ala)
c.3365G>C (p.Gly1122Ala)
c.3272G>C (p.Gly1091Ala)
c.2747G>C (p.Gly916Ala)
c.3062G>C (p.Gly1021Ala)
n.7634G>C
3g.9473291G>TCA351685062SETD5n.1721G>T
c.3347G>T (p.Gly1116Val)
n.3755G>T
n.820G>T
n.4326G>T
n.4682G>T
c.3251G>T (p.Gly1084Val)
c.*3397G>T (n.*3397G>T)
c.*3320G>T (n.*3320G>T)
c.*3625G>T (n.*3625G>T)
c.*3356G>T (n.*3356G>T)
c.2957G>T (p.Gly986Val)
c.2253G>T
c.3308G>T (p.Gly1103Val)
c.2287G>T
c.1242G>T
n.2592G>T
n.319G>T
n.56G>T
n.3415G>T
c.3425G>T (p.Gly1142Val)
c.3404G>T (p.Gly1135Val)
c.3386G>T (p.Gly1129Val)
c.3368G>T (p.Gly1123Val)
c.3329G>T (p.Gly1110Val)
c.3290G>T (p.Gly1097Val)
c.3014G>T (p.Gly1005Val)
c.2975G>T (p.Gly992Val)
c.3365G>T (p.Gly1122Val)
c.3272G>T (p.Gly1091Val)
c.2747G>T (p.Gly916Val)
c.3062G>T (p.Gly1021Val)
n.7634G>T
3g.9473292T>ACA432365731SETD5n.1722T>A
c.3348T>A (p.Gly1116=)
n.3756T>A
n.821T>A
n.4327T>A
n.4683T>A
c.3252T>A (p.Gly1084=)
c.*3398T>A (n.*3398T>A)
c.*3321T>A (n.*3321T>A)
c.*3626T>A (n.*3626T>A)
c.*3357T>A (n.*3357T>A)
c.2958T>A (p.Gly986=)
c.2254T>A
c.3309T>A (p.Gly1103=)
c.2288T>A
c.1243T>A
n.2593T>A
n.320T>A
n.57T>A
n.3416T>A
c.3426T>A (p.Gly1142=)
c.3405T>A (p.Gly1135=)
c.3387T>A (p.Gly1129=)
c.3369T>A (p.Gly1123=)
c.3330T>A (p.Gly1110=)
c.3291T>A (p.Gly1097=)
c.3015T>A (p.Gly1005=)
c.2976T>A (p.Gly992=)
c.3366T>A (p.Gly1122=)
c.3273T>A (p.Gly1091=)
c.2748T>A (p.Gly916=)
c.3063T>A (p.Gly1021=)
n.7635T>A
3g.9473292T>CCA69951036SETD5n.1722T>C
c.3348T>C (p.Gly1116=)
n.3756T>C
n.821T>C
n.4327T>C
n.4683T>C
c.3252T>C (p.Gly1084=)
c.*3398T>C (n.*3398T>C)
c.*3321T>C (n.*3321T>C)
c.*3626T>C (n.*3626T>C)
c.*3357T>C (n.*3357T>C)
c.2958T>C (p.Gly986=)
c.2254T>C
c.3309T>C (p.Gly1103=)
c.2288T>C
c.1243T>C
n.2593T>C
n.320T>C
n.57T>C
n.3416T>C
c.3426T>C (p.Gly1142=)
c.3405T>C (p.Gly1135=)
c.3387T>C (p.Gly1129=)
c.3369T>C (p.Gly1123=)
c.3330T>C (p.Gly1110=)
c.3291T>C (p.Gly1097=)
c.3015T>C (p.Gly1005=)
c.2976T>C (p.Gly992=)
c.3366T>C (p.Gly1122=)
c.3273T>C (p.Gly1091=)
c.2748T>C (p.Gly916=)
c.3063T>C (p.Gly1021=)
n.7635T>C
 dbSNP
3g.9473292T>GCA432365732SETD5n.1722T>G
c.3348T>G (p.Gly1116=)
n.3756T>G
n.821T>G
n.4327T>G
n.4683T>G
c.3252T>G (p.Gly1084=)
c.*3398T>G (n.*3398T>G)
c.*3321T>G (n.*3321T>G)
c.*3626T>G (n.*3626T>G)
c.*3357T>G (n.*3357T>G)
c.2958T>G (p.Gly986=)
c.2254T>G
c.3309T>G (p.Gly1103=)
c.2288T>G
c.1243T>G
n.2593T>G
n.320T>G
n.57T>G
n.3416T>G
c.3426T>G (p.Gly1142=)
c.3405T>G (p.Gly1135=)
c.3387T>G (p.Gly1129=)
c.3369T>G (p.Gly1123=)
c.3330T>G (p.Gly1110=)
c.3291T>G (p.Gly1097=)
c.3015T>G (p.Gly1005=)
c.2976T>G (p.Gly992=)
c.3366T>G (p.Gly1122=)
c.3273T>G (p.Gly1091=)
c.2748T>G (p.Gly916=)
c.3063T>G (p.Gly1021=)
n.7635T>G
 ClinVar
3g.9473292T=CA1344740068SETD5n.1722T=
c.3348T= (p.Gly1116=)
n.3756T=
n.821T=
n.4327T=
n.4683T=
c.3252T= (p.Gly1084=)
c.*3398T= (n.*3398T=)
c.*3321T= (n.*3321T=)
c.*3626T= (n.*3626T=)
c.*3357T= (n.*3357T=)
c.2958T= (p.Gly986=)
c.2254T=
c.3309T= (p.Gly1103=)
c.2288T=
c.1243T=
n.2593T=
n.320T=
n.57T=
n.3416T=
c.3426T= (p.Gly1142=)
c.3405T= (p.Gly1135=)
c.3387T= (p.Gly1129=)
c.3369T= (p.Gly1123=)
c.3330T= (p.Gly1110=)
c.3291T= (p.Gly1097=)
c.3015T= (p.Gly1005=)
c.2976T= (p.Gly992=)
c.3366T= (p.Gly1122=)
c.3273T= (p.Gly1091=)
c.2748T= (p.Gly916=)
c.3063T= (p.Gly1021=)
n.7635T=
3g.9473293G>ACA2239646SETD5n.1723G>A
c.3349G>A (p.Gly1117Arg)
n.3757G>A
n.822G>A
n.4328G>A
n.4684G>A
c.3253G>A (p.Gly1085Arg)
c.*3399G>A (n.*3399G>A)
c.*3322G>A (n.*3322G>A)
c.*3627G>A (n.*3627G>A)
c.*3358G>A (n.*3358G>A)
c.2959G>A (p.Gly987Arg)
c.2255G>A
c.3310G>A (p.Gly1104Arg)
c.2289G>A
c.1244G>A
n.2594G>A
n.321G>A
n.58G>A
n.3417G>A
c.3427G>A (p.Gly1143Arg)
c.3406G>A (p.Gly1136Arg)
c.3388G>A (p.Gly1130Arg)
c.3370G>A (p.Gly1124Arg)
c.3331G>A (p.Gly1111Arg)
c.3292G>A (p.Gly1098Arg)
c.3016G>A (p.Gly1006Arg)
c.2977G>A (p.Gly993Arg)
c.3367G>A (p.Gly1123Arg)
c.3274G>A (p.Gly1092Arg)
c.2749G>A (p.Gly917Arg)
c.3064G>A (p.Gly1022Arg)
n.7636G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473293G>CCA351685067SETD5n.1723G>C
c.3349G>C (p.Gly1117Arg)
n.3757G>C
n.822G>C
n.4328G>C
n.4684G>C
c.3253G>C (p.Gly1085Arg)
c.*3399G>C (n.*3399G>C)
c.*3322G>C (n.*3322G>C)
c.*3627G>C (n.*3627G>C)
c.*3358G>C (n.*3358G>C)
c.2959G>C (p.Gly987Arg)
c.2255G>C
c.3310G>C (p.Gly1104Arg)
c.2289G>C
c.1244G>C
n.2594G>C
n.321G>C
n.58G>C
n.3417G>C
c.3427G>C (p.Gly1143Arg)
c.3406G>C (p.Gly1136Arg)
c.3388G>C (p.Gly1130Arg)
c.3370G>C (p.Gly1124Arg)
c.3331G>C (p.Gly1111Arg)
c.3292G>C (p.Gly1098Arg)
c.3016G>C (p.Gly1006Arg)
c.2977G>C (p.Gly993Arg)
c.3367G>C (p.Gly1123Arg)
c.3274G>C (p.Gly1092Arg)
c.2749G>C (p.Gly917Arg)
c.3064G>C (p.Gly1022Arg)
n.7636G>C
 ClinVar dbSNP gnomAD v4
3g.9473293G=CA1344740070SETD5n.1723G=
c.3349G= (p.Gly1117=)
n.3757G=
n.822G=
n.4328G=
n.4684G=
c.3253G= (p.Gly1085=)
c.*3399G= (n.*3399G=)
c.*3322G= (n.*3322G=)
c.*3627G= (n.*3627G=)
c.*3358G= (n.*3358G=)
c.2959G= (p.Gly987=)
c.2255G=
c.3310G= (p.Gly1104=)
c.2289G=
c.1244G=
n.2594G=
n.321G=
n.58G=
n.3417G=
c.3427G= (p.Gly1143=)
c.3406G= (p.Gly1136=)
c.3388G= (p.Gly1130=)
c.3370G= (p.Gly1124=)
c.3331G= (p.Gly1111=)
c.3292G= (p.Gly1098=)
c.3016G= (p.Gly1006=)
c.2977G= (p.Gly993=)
c.3367G= (p.Gly1123=)
c.3274G= (p.Gly1092=)
c.2749G= (p.Gly917=)
c.3064G= (p.Gly1022=)
n.7636G=
3g.9473293G>TCA2239645SETD5n.1723G>T
c.3349G>T (p.Gly1117Trp)
n.3757G>T
n.822G>T
n.4328G>T
n.4684G>T
c.3253G>T (p.Gly1085Trp)
c.*3399G>T (n.*3399G>T)
c.*3322G>T (n.*3322G>T)
c.*3627G>T (n.*3627G>T)
c.*3358G>T (n.*3358G>T)
c.2959G>T (p.Gly987Trp)
c.2255G>T
c.3310G>T (p.Gly1104Trp)
c.2289G>T
c.1244G>T
n.2594G>T
n.321G>T
n.58G>T
n.3417G>T
c.3427G>T (p.Gly1143Trp)
c.3406G>T (p.Gly1136Trp)
c.3388G>T (p.Gly1130Trp)
c.3370G>T (p.Gly1124Trp)
c.3331G>T (p.Gly1111Trp)
c.3292G>T (p.Gly1098Trp)
c.3016G>T (p.Gly1006Trp)
c.2977G>T (p.Gly993Trp)
c.3367G>T (p.Gly1123Trp)
c.3274G>T (p.Gly1092Trp)
c.2749G>T (p.Gly917Trp)
c.3064G>T (p.Gly1022Trp)
n.7636G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473297dupCA2755174172SETD5n.1727dup
c.3353dup (p.Gly1119ArgfsTer2)
n.3761dup
n.826dup
n.4332dup
n.4688dup
c.3257dup (p.Gly1087ArgfsTer2)
c.*3403dup (n.*3403dup)
c.*3326dup (n.*3326dup)
c.*3631dup (n.*3631dup)
c.*3362dup (n.*3362dup)
c.2963dup (p.Gly989ArgfsTer2)
c.2259dup
c.3314dup (p.Gly1106ArgfsTer2)
c.2293dup
c.1248dup
n.2598dup
n.325dup
n.62dup
n.3421dup
c.3431dup (p.Gly1145ArgfsTer2)
c.3410dup (p.Gly1138ArgfsTer2)
c.3392dup (p.Gly1132ArgfsTer2)
c.3374dup (p.Gly1126ArgfsTer2)
c.3335dup (p.Gly1113ArgfsTer2)
c.3296dup (p.Gly1100ArgfsTer2)
c.3020dup (p.Gly1008ArgfsTer2)
c.2981dup (p.Gly995ArgfsTer2)
c.3371dup (p.Gly1125ArgfsTer2)
c.3278dup (p.Gly1094ArgfsTer2)
c.2753dup (p.Gly919ArgfsTer2)
c.3068dup (p.Gly1024ArgfsTer2)
n.7640dup
3g.9473297delCA2580070734SETD5n.1727del
c.3353del (p.Gly1118GlufsTer?)
n.3761del
n.826del
n.4332del
n.4688del
c.3257del (p.Gly1086GlufsTer?)
c.*3403del (n.*3403del)
c.*3326del (n.*3326del)
c.*3631del (n.*3631del)
c.*3362del (n.*3362del)
c.2963del (p.Gly988GlufsTer?)
c.2259del
c.3314del (p.Gly1105GlufsTer?)
c.2293del
c.1248del
n.2598del
n.325del
n.62del
n.3421del
c.3431del (p.Gly1144GlufsTer?)
c.3410del (p.Gly1137GlufsTer?)
c.3392del (p.Gly1131GlufsTer?)
c.3374del (p.Gly1125GlufsTer?)
c.3335del (p.Gly1112GlufsTer?)
c.3296del (p.Gly1099GlufsTer?)
c.3020del (p.Gly1007GlufsTer?)
c.2981del (p.Gly994GlufsTer?)
c.3371del (p.Gly1124GlufsTer?)
c.3278del (p.Gly1093GlufsTer?)
c.2753del (p.Gly918GlufsTer?)
c.3068del (p.Gly1023GlufsTer?)
n.7640del
 ClinVar
3g.9473294G>ACA351685072SETD5n.1724G>A
c.3350G>A (p.Gly1117Glu)
n.3758G>A
n.823G>A
n.4329G>A
n.4685G>A
c.3254G>A (p.Gly1085Glu)
c.*3400G>A (n.*3400G>A)
c.*3323G>A (n.*3323G>A)
c.*3628G>A (n.*3628G>A)
c.*3359G>A (n.*3359G>A)
c.2960G>A (p.Gly987Glu)
c.2256G>A
c.3311G>A (p.Gly1104Glu)
c.2290G>A
c.1245G>A
n.2595G>A
n.322G>A
n.59G>A
n.3418G>A
c.3428G>A (p.Gly1143Glu)
c.3407G>A (p.Gly1136Glu)
c.3389G>A (p.Gly1130Glu)
c.3371G>A (p.Gly1124Glu)
c.3332G>A (p.Gly1111Glu)
c.3293G>A (p.Gly1098Glu)
c.3017G>A (p.Gly1006Glu)
c.2978G>A (p.Gly993Glu)
c.3368G>A (p.Gly1123Glu)
c.3275G>A (p.Gly1092Glu)
c.2750G>A (p.Gly917Glu)
c.3065G>A (p.Gly1022Glu)
n.7637G>A
3g.9473294G>CCA351685086SETD5n.1724G>C
c.3350G>C (p.Gly1117Ala)
n.3758G>C
n.823G>C
n.4329G>C
n.4685G>C
c.3254G>C (p.Gly1085Ala)
c.*3400G>C (n.*3400G>C)
c.*3323G>C (n.*3323G>C)
c.*3628G>C (n.*3628G>C)
c.*3359G>C (n.*3359G>C)
c.2960G>C (p.Gly987Ala)
c.2256G>C
c.3311G>C (p.Gly1104Ala)
c.2290G>C
c.1245G>C
n.2595G>C
n.322G>C
n.59G>C
n.3418G>C
c.3428G>C (p.Gly1143Ala)
c.3407G>C (p.Gly1136Ala)
c.3389G>C (p.Gly1130Ala)
c.3371G>C (p.Gly1124Ala)
c.3332G>C (p.Gly1111Ala)
c.3293G>C (p.Gly1098Ala)
c.3017G>C (p.Gly1006Ala)
c.2978G>C (p.Gly993Ala)
c.3368G>C (p.Gly1123Ala)
c.3275G>C (p.Gly1092Ala)
c.2750G>C (p.Gly917Ala)
c.3065G>C (p.Gly1022Ala)
n.7637G>C
3g.9473294G>TCA351685077SETD5n.1724G>T
c.3350G>T (p.Gly1117Val)
n.3758G>T
n.823G>T
n.4329G>T
n.4685G>T
c.3254G>T (p.Gly1085Val)
c.*3400G>T (n.*3400G>T)
c.*3323G>T (n.*3323G>T)
c.*3628G>T (n.*3628G>T)
c.*3359G>T (n.*3359G>T)
c.2960G>T (p.Gly987Val)
c.2256G>T
c.3311G>T (p.Gly1104Val)
c.2290G>T
c.1245G>T
n.2595G>T
n.322G>T
n.59G>T
n.3418G>T
c.3428G>T (p.Gly1143Val)
c.3407G>T (p.Gly1136Val)
c.3389G>T (p.Gly1130Val)
c.3371G>T (p.Gly1124Val)
c.3332G>T (p.Gly1111Val)
c.3293G>T (p.Gly1098Val)
c.3017G>T (p.Gly1006Val)
c.2978G>T (p.Gly993Val)
c.3368G>T (p.Gly1123Val)
c.3275G>T (p.Gly1092Val)
c.2750G>T (p.Gly917Val)
c.3065G>T (p.Gly1022Val)
n.7637G>T
3g.9473295G>ACA432365733SETD5n.1725G>A
c.3351G>A (p.Gly1117=)
n.3759G>A
n.824G>A
n.4330G>A
n.4686G>A
c.3255G>A (p.Gly1085=)
c.*3401G>A (n.*3401G>A)
c.*3324G>A (n.*3324G>A)
c.*3629G>A (n.*3629G>A)
c.*3360G>A (n.*3360G>A)
c.2961G>A (p.Gly987=)
c.2257G>A
c.3312G>A (p.Gly1104=)
c.2291G>A
c.1246G>A
n.2596G>A
n.323G>A
n.60G>A
n.3419G>A
c.3429G>A (p.Gly1143=)
c.3408G>A (p.Gly1136=)
c.3390G>A (p.Gly1130=)
c.3372G>A (p.Gly1124=)
c.3333G>A (p.Gly1111=)
c.3294G>A (p.Gly1098=)
c.3018G>A (p.Gly1006=)
c.2979G>A (p.Gly993=)
c.3369G>A (p.Gly1123=)
c.3276G>A (p.Gly1092=)
c.2751G>A (p.Gly917=)
c.3066G>A (p.Gly1022=)
n.7638G>A
 gnomAD v4
3g.9473295G>CCA432365734SETD5n.1725G>C
c.3351G>C (p.Gly1117=)
n.3759G>C
n.824G>C
n.4330G>C
n.4686G>C
c.3255G>C (p.Gly1085=)
c.*3401G>C (n.*3401G>C)
c.*3324G>C (n.*3324G>C)
c.*3629G>C (n.*3629G>C)
c.*3360G>C (n.*3360G>C)
c.2961G>C (p.Gly987=)
c.2257G>C
c.3312G>C (p.Gly1104=)
c.2291G>C
c.1246G>C
n.2596G>C
n.323G>C
n.60G>C
n.3419G>C
c.3429G>C (p.Gly1143=)
c.3408G>C (p.Gly1136=)
c.3390G>C (p.Gly1130=)
c.3372G>C (p.Gly1124=)
c.3333G>C (p.Gly1111=)
c.3294G>C (p.Gly1098=)
c.3018G>C (p.Gly1006=)
c.2979G>C (p.Gly993=)
c.3369G>C (p.Gly1123=)
c.3276G>C (p.Gly1092=)
c.2751G>C (p.Gly917=)
c.3066G>C (p.Gly1022=)
n.7638G>C
3g.9473295G>TCA432365735SETD5n.1725G>T
c.3351G>T (p.Gly1117=)
n.3759G>T
n.824G>T
n.4330G>T
n.4686G>T
c.3255G>T (p.Gly1085=)
c.*3401G>T (n.*3401G>T)
c.*3324G>T (n.*3324G>T)
c.*3629G>T (n.*3629G>T)
c.*3360G>T (n.*3360G>T)
c.2961G>T (p.Gly987=)
c.2257G>T
c.3312G>T (p.Gly1104=)
c.2291G>T
c.1246G>T
n.2596G>T
n.323G>T
n.60G>T
n.3419G>T
c.3429G>T (p.Gly1143=)
c.3408G>T (p.Gly1136=)
c.3390G>T (p.Gly1130=)
c.3372G>T (p.Gly1124=)
c.3333G>T (p.Gly1111=)
c.3294G>T (p.Gly1098=)
c.3018G>T (p.Gly1006=)
c.2979G>T (p.Gly993=)
c.3369G>T (p.Gly1123=)
c.3276G>T (p.Gly1092=)
c.2751G>T (p.Gly917=)
c.3066G>T (p.Gly1022=)
n.7638G>T
3g.9473296G>ACA2239647SETD5n.1726G>A
c.3352G>A (p.Gly1118Arg)
n.3760G>A
n.825G>A
n.4331G>A
n.4687G>A
c.3256G>A (p.Gly1086Arg)
c.*3402G>A (n.*3402G>A)
c.*3325G>A (n.*3325G>A)
c.*3630G>A (n.*3630G>A)
c.*3361G>A (n.*3361G>A)
c.2962G>A (p.Gly988Arg)
c.2258G>A
c.3313G>A (p.Gly1105Arg)
c.2292G>A
c.1247G>A
n.2597G>A
n.324G>A
n.61G>A
n.3420G>A
c.3430G>A (p.Gly1144Arg)
c.3409G>A (p.Gly1137Arg)
c.3391G>A (p.Gly1131Arg)
c.3373G>A (p.Gly1125Arg)
c.3334G>A (p.Gly1112Arg)
c.3295G>A (p.Gly1099Arg)
c.3019G>A (p.Gly1007Arg)
c.2980G>A (p.Gly994Arg)
c.3370G>A (p.Gly1124Arg)
c.3277G>A (p.Gly1093Arg)
c.2752G>A (p.Gly918Arg)
c.3067G>A (p.Gly1023Arg)
n.7639G>A
 dbSNP ExAC
3g.9473296G>CCA351685102SETD5n.1726G>C
c.3352G>C (p.Gly1118Arg)
n.3760G>C
n.825G>C
n.4331G>C
n.4687G>C
c.3256G>C (p.Gly1086Arg)
c.*3402G>C (n.*3402G>C)
c.*3325G>C (n.*3325G>C)
c.*3630G>C (n.*3630G>C)
c.*3361G>C (n.*3361G>C)
c.2962G>C (p.Gly988Arg)
c.2258G>C
c.3313G>C (p.Gly1105Arg)
c.2292G>C
c.1247G>C
n.2597G>C
n.324G>C
n.61G>C
n.3420G>C
c.3430G>C (p.Gly1144Arg)
c.3409G>C (p.Gly1137Arg)
c.3391G>C (p.Gly1131Arg)
c.3373G>C (p.Gly1125Arg)
c.3334G>C (p.Gly1112Arg)
c.3295G>C (p.Gly1099Arg)
c.3019G>C (p.Gly1007Arg)
c.2980G>C (p.Gly994Arg)
c.3370G>C (p.Gly1124Arg)
c.3277G>C (p.Gly1093Arg)
c.2752G>C (p.Gly918Arg)
c.3067G>C (p.Gly1023Arg)
n.7639G>C
3g.9473296G=CA1344740074SETD5n.1726G=
c.3352G= (p.Gly1118=)
n.3760G=
n.825G=
n.4331G=
n.4687G=
c.3256G= (p.Gly1086=)
c.*3402G= (n.*3402G=)
c.*3325G= (n.*3325G=)
c.*3630G= (n.*3630G=)
c.*3361G= (n.*3361G=)
c.2962G= (p.Gly988=)
c.2258G=
c.3313G= (p.Gly1105=)
c.2292G=
c.1247G=
n.2597G=
n.324G=
n.61G=
n.3420G=
c.3430G= (p.Gly1144=)
c.3409G= (p.Gly1137=)
c.3391G= (p.Gly1131=)
c.3373G= (p.Gly1125=)
c.3334G= (p.Gly1112=)
c.3295G= (p.Gly1099=)
c.3019G= (p.Gly1007=)
c.2980G= (p.Gly994=)
c.3370G= (p.Gly1124=)
c.3277G= (p.Gly1093=)
c.2752G= (p.Gly918=)
c.3067G= (p.Gly1023=)
n.7639G=
3g.9473296G>TCA351685098SETD5n.1726G>T
c.3352G>T (p.Gly1118Ter)
n.3760G>T
n.825G>T
n.4331G>T
n.4687G>T
c.3256G>T (p.Gly1086Ter)
c.*3402G>T (n.*3402G>T)
c.*3325G>T (n.*3325G>T)
c.*3630G>T (n.*3630G>T)
c.*3361G>T (n.*3361G>T)
c.2962G>T (p.Gly988Ter)
c.2258G>T
c.3313G>T (p.Gly1105Ter)
c.2292G>T
c.1247G>T
n.2597G>T
n.324G>T
n.61G>T
n.3420G>T
c.3430G>T (p.Gly1144Ter)
c.3409G>T (p.Gly1137Ter)
c.3391G>T (p.Gly1131Ter)
c.3373G>T (p.Gly1125Ter)
c.3334G>T (p.Gly1112Ter)
c.3295G>T (p.Gly1099Ter)
c.3019G>T (p.Gly1007Ter)
c.2980G>T (p.Gly994Ter)
c.3370G>T (p.Gly1124Ter)
c.3277G>T (p.Gly1093Ter)
c.2752G>T (p.Gly918Ter)
c.3067G>T (p.Gly1023Ter)
n.7639G>T
3g.9473297G>ACA351685103SETD5n.1727G>A
c.3353G>A (p.Gly1118Glu)
n.3761G>A
n.826G>A
n.4332G>A
n.4688G>A
c.3257G>A (p.Gly1086Glu)
c.*3403G>A (n.*3403G>A)
c.*3326G>A (n.*3326G>A)
c.*3631G>A (n.*3631G>A)
c.*3362G>A (n.*3362G>A)
c.2963G>A (p.Gly988Glu)
c.2259G>A
c.3314G>A (p.Gly1105Glu)
c.2293G>A
c.1248G>A
n.2598G>A
n.325G>A
n.62G>A
n.3421G>A
c.3431G>A (p.Gly1144Glu)
c.3410G>A (p.Gly1137Glu)
c.3392G>A (p.Gly1131Glu)
c.3374G>A (p.Gly1125Glu)
c.3335G>A (p.Gly1112Glu)
c.3296G>A (p.Gly1099Glu)
c.3020G>A (p.Gly1007Glu)
c.2981G>A (p.Gly994Glu)
c.3371G>A (p.Gly1124Glu)
c.3278G>A (p.Gly1093Glu)
c.2753G>A (p.Gly918Glu)
c.3068G>A (p.Gly1023Glu)
n.7640G>A
 gnomAD v4
3g.9473297G>CCA351685116SETD5n.1727G>C
c.3353G>C (p.Gly1118Ala)
n.3761G>C
n.826G>C
n.4332G>C
n.4688G>C
c.3257G>C (p.Gly1086Ala)
c.*3403G>C (n.*3403G>C)
c.*3326G>C (n.*3326G>C)
c.*3631G>C (n.*3631G>C)
c.*3362G>C (n.*3362G>C)
c.2963G>C (p.Gly988Ala)
c.2259G>C
c.3314G>C (p.Gly1105Ala)
c.2293G>C
c.1248G>C
n.2598G>C
n.325G>C
n.62G>C
n.3421G>C
c.3431G>C (p.Gly1144Ala)
c.3410G>C (p.Gly1137Ala)
c.3392G>C (p.Gly1131Ala)
c.3374G>C (p.Gly1125Ala)
c.3335G>C (p.Gly1112Ala)
c.3296G>C (p.Gly1099Ala)
c.3020G>C (p.Gly1007Ala)
c.2981G>C (p.Gly994Ala)
c.3371G>C (p.Gly1124Ala)
c.3278G>C (p.Gly1093Ala)
c.2753G>C (p.Gly918Ala)
c.3068G>C (p.Gly1023Ala)
n.7640G>C
3g.9473297G>TCA351685111SETD5n.1727G>T
c.3353G>T (p.Gly1118Val)
n.3761G>T
n.826G>T
n.4332G>T
n.4688G>T
c.3257G>T (p.Gly1086Val)
c.*3403G>T (n.*3403G>T)
c.*3326G>T (n.*3326G>T)
c.*3631G>T (n.*3631G>T)
c.*3362G>T (n.*3362G>T)
c.2963G>T (p.Gly988Val)
c.2259G>T
c.3314G>T (p.Gly1105Val)
c.2293G>T
c.1248G>T
n.2598G>T
n.325G>T
n.62G>T
n.3421G>T
c.3431G>T (p.Gly1144Val)
c.3410G>T (p.Gly1137Val)
c.3392G>T (p.Gly1131Val)
c.3374G>T (p.Gly1125Val)
c.3335G>T (p.Gly1112Val)
c.3296G>T (p.Gly1099Val)
c.3020G>T (p.Gly1007Val)
c.2981G>T (p.Gly994Val)
c.3371G>T (p.Gly1124Val)
c.3278G>T (p.Gly1093Val)
c.2753G>T (p.Gly918Val)
c.3068G>T (p.Gly1023Val)
n.7640G>T
3g.9473298A>CCA432365738SETD5n.1728A>C
c.3354A>C (p.Gly1118=)
n.3762A>C
n.827A>C
n.4333A>C
n.4689A>C
c.3258A>C (p.Gly1086=)
c.*3404A>C (n.*3404A>C)
c.*3327A>C (n.*3327A>C)
c.*3632A>C (n.*3632A>C)
c.*3363A>C (n.*3363A>C)
c.2964A>C (p.Gly988=)
c.2260A>C
c.3315A>C (p.Gly1105=)
c.2294A>C
c.1249A>C
n.2599A>C
n.326A>C
n.63A>C
n.3422A>C
c.3432A>C (p.Gly1144=)
c.3411A>C (p.Gly1137=)
c.3393A>C (p.Gly1131=)
c.3375A>C (p.Gly1125=)
c.3336A>C (p.Gly1112=)
c.3297A>C (p.Gly1099=)
c.3021A>C (p.Gly1007=)
c.2982A>C (p.Gly994=)
c.3372A>C (p.Gly1124=)
c.3279A>C (p.Gly1093=)
c.2754A>C (p.Gly918=)
c.3069A>C (p.Gly1023=)
n.7641A>C
3g.9473298A>GCA432365737SETD5n.1728A>G
c.3354A>G (p.Gly1118=)
n.3762A>G
n.827A>G
n.4333A>G
n.4689A>G
c.3258A>G (p.Gly1086=)
c.*3404A>G (n.*3404A>G)
c.*3327A>G (n.*3327A>G)
c.*3632A>G (n.*3632A>G)
c.*3363A>G (n.*3363A>G)
c.2964A>G (p.Gly988=)
c.2260A>G
c.3315A>G (p.Gly1105=)
c.2294A>G
c.1249A>G
n.2599A>G
n.326A>G
n.63A>G
n.3422A>G
c.3432A>G (p.Gly1144=)
c.3411A>G (p.Gly1137=)
c.3393A>G (p.Gly1131=)
c.3375A>G (p.Gly1125=)
c.3336A>G (p.Gly1112=)
c.3297A>G (p.Gly1099=)
c.3021A>G (p.Gly1007=)
c.2982A>G (p.Gly994=)
c.3372A>G (p.Gly1124=)
c.3279A>G (p.Gly1093=)
c.2754A>G (p.Gly918=)
c.3069A>G (p.Gly1023=)
n.7641A>G
3g.9473298A>TCA432365736SETD5n.1728A>T
c.3354A>T (p.Gly1118=)
n.3762A>T
n.827A>T
n.4333A>T
n.4689A>T
c.3258A>T (p.Gly1086=)
c.*3404A>T (n.*3404A>T)
c.*3327A>T (n.*3327A>T)
c.*3632A>T (n.*3632A>T)
c.*3363A>T (n.*3363A>T)
c.2964A>T (p.Gly988=)
c.2260A>T
c.3315A>T (p.Gly1105=)
c.2294A>T
c.1249A>T
n.2599A>T
n.326A>T
n.63A>T
n.3422A>T
c.3432A>T (p.Gly1144=)
c.3411A>T (p.Gly1137=)
c.3393A>T (p.Gly1131=)
c.3375A>T (p.Gly1125=)
c.3336A>T (p.Gly1112=)
c.3297A>T (p.Gly1099=)
c.3021A>T (p.Gly1007=)
c.2982A>T (p.Gly994=)
c.3372A>T (p.Gly1124=)
c.3279A>T (p.Gly1093=)
c.2754A>T (p.Gly918=)
c.3069A>T (p.Gly1023=)
n.7641A>T
3g.9473299G>ACA351685123SETD5n.1729G>A
c.3355G>A (p.Gly1119Ser)
n.3763G>A
n.828G>A
n.4334G>A
n.4690G>A
c.3259G>A (p.Gly1087Ser)
c.*3405G>A (n.*3405G>A)
c.*3328G>A (n.*3328G>A)
c.*3633G>A (n.*3633G>A)
c.*3364G>A (n.*3364G>A)
c.2965G>A (p.Gly989Ser)
c.2261G>A
c.3316G>A (p.Gly1106Ser)
c.2295G>A
c.1250G>A
n.2600G>A
n.327G>A
n.64G>A
n.3423G>A
c.3433G>A (p.Gly1145Ser)
c.3412G>A (p.Gly1138Ser)
c.3394G>A (p.Gly1132Ser)
c.3376G>A (p.Gly1126Ser)
c.3337G>A (p.Gly1113Ser)
c.3298G>A (p.Gly1100Ser)
c.3022G>A (p.Gly1008Ser)
c.2983G>A (p.Gly995Ser)
c.3373G>A (p.Gly1125Ser)
c.3280G>A (p.Gly1094Ser)
c.2755G>A (p.Gly919Ser)
c.3070G>A (p.Gly1024Ser)
n.7642G>A
 ClinVar dbSNP gnomAD v4
3g.9473299G>CCA351685127SETD5n.1729G>C
c.3355G>C (p.Gly1119Arg)
n.3763G>C
n.828G>C
n.4334G>C
n.4690G>C
c.3259G>C (p.Gly1087Arg)
c.*3405G>C (n.*3405G>C)
c.*3328G>C (n.*3328G>C)
c.*3633G>C (n.*3633G>C)
c.*3364G>C (n.*3364G>C)
c.2965G>C (p.Gly989Arg)
c.2261G>C
c.3316G>C (p.Gly1106Arg)
c.2295G>C
c.1250G>C
n.2600G>C
n.327G>C
n.64G>C
n.3423G>C
c.3433G>C (p.Gly1145Arg)
c.3412G>C (p.Gly1138Arg)
c.3394G>C (p.Gly1132Arg)
c.3376G>C (p.Gly1126Arg)
c.3337G>C (p.Gly1113Arg)
c.3298G>C (p.Gly1100Arg)
c.3022G>C (p.Gly1008Arg)
c.2983G>C (p.Gly995Arg)
c.3373G>C (p.Gly1125Arg)
c.3280G>C (p.Gly1094Arg)
c.2755G>C (p.Gly919Arg)
c.3070G>C (p.Gly1024Arg)
n.7642G>C
3g.9473299G=CA1344740085SETD5n.1729G=
c.3355G= (p.Gly1119=)
n.3763G=
n.828G=
n.4334G=
n.4690G=
c.3259G= (p.Gly1087=)
c.*3405G= (n.*3405G=)
c.*3328G= (n.*3328G=)
c.*3633G= (n.*3633G=)
c.*3364G= (n.*3364G=)
c.2965G= (p.Gly989=)
c.2261G=
c.3316G= (p.Gly1106=)
c.2295G=
c.1250G=
n.2600G=
n.327G=
n.64G=
n.3423G=
c.3433G= (p.Gly1145=)
c.3412G= (p.Gly1138=)
c.3394G= (p.Gly1132=)
c.3376G= (p.Gly1126=)
c.3337G= (p.Gly1113=)
c.3298G= (p.Gly1100=)
c.3022G= (p.Gly1008=)
c.2983G= (p.Gly995=)
c.3373G= (p.Gly1125=)
c.3280G= (p.Gly1094=)
c.2755G= (p.Gly919=)
c.3070G= (p.Gly1024=)
n.7642G=
3g.9473299G>TCA351685138SETD5n.1729G>T
c.3355G>T (p.Gly1119Cys)
n.3763G>T
n.828G>T
n.4334G>T
n.4690G>T
c.3259G>T (p.Gly1087Cys)
c.*3405G>T (n.*3405G>T)
c.*3328G>T (n.*3328G>T)
c.*3633G>T (n.*3633G>T)
c.*3364G>T (n.*3364G>T)
c.2965G>T (p.Gly989Cys)
c.2261G>T
c.3316G>T (p.Gly1106Cys)
c.2295G>T
c.1250G>T
n.2600G>T
n.327G>T
n.64G>T
n.3423G>T
c.3433G>T (p.Gly1145Cys)
c.3412G>T (p.Gly1138Cys)
c.3394G>T (p.Gly1132Cys)
c.3376G>T (p.Gly1126Cys)
c.3337G>T (p.Gly1113Cys)
c.3298G>T (p.Gly1100Cys)
c.3022G>T (p.Gly1008Cys)
c.2983G>T (p.Gly995Cys)
c.3373G>T (p.Gly1125Cys)
c.3280G>T (p.Gly1094Cys)
c.2755G>T (p.Gly919Cys)
c.3070G>T (p.Gly1024Cys)
n.7642G>T
3g.9473300G>ACA2239648SETD5n.1730G>A
c.3356G>A (p.Gly1119Asp)
n.3764G>A
n.829G>A
n.4335G>A
n.4691G>A
c.3260G>A (p.Gly1087Asp)
c.*3406G>A (n.*3406G>A)
c.*3329G>A (n.*3329G>A)
c.*3634G>A (n.*3634G>A)
c.*3365G>A (n.*3365G>A)
c.2966G>A (p.Gly989Asp)
c.2262G>A
c.3317G>A (p.Gly1106Asp)
c.2296G>A
c.1251G>A
n.2601G>A
n.328G>A
n.65G>A
n.3424G>A
c.3434G>A (p.Gly1145Asp)
c.3413G>A (p.Gly1138Asp)
c.3395G>A (p.Gly1132Asp)
c.3377G>A (p.Gly1126Asp)
c.3338G>A (p.Gly1113Asp)
c.3299G>A (p.Gly1100Asp)
c.3023G>A (p.Gly1008Asp)
c.2984G>A (p.Gly995Asp)
c.3374G>A (p.Gly1125Asp)
c.3281G>A (p.Gly1094Asp)
c.2756G>A (p.Gly919Asp)
c.3071G>A (p.Gly1024Asp)
n.7643G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473300G>CCA351685151SETD5n.1730G>C
c.3356G>C (p.Gly1119Ala)
n.3764G>C
n.829G>C
n.4335G>C
n.4691G>C
c.3260G>C (p.Gly1087Ala)
c.*3406G>C (n.*3406G>C)
c.*3329G>C (n.*3329G>C)
c.*3634G>C (n.*3634G>C)
c.*3365G>C (n.*3365G>C)
c.2966G>C (p.Gly989Ala)
c.2262G>C
c.3317G>C (p.Gly1106Ala)
c.2296G>C
c.1251G>C
n.2601G>C
n.328G>C
n.65G>C
n.3424G>C
c.3434G>C (p.Gly1145Ala)
c.3413G>C (p.Gly1138Ala)
c.3395G>C (p.Gly1132Ala)
c.3377G>C (p.Gly1126Ala)
c.3338G>C (p.Gly1113Ala)
c.3299G>C (p.Gly1100Ala)
c.3023G>C (p.Gly1008Ala)
c.2984G>C (p.Gly995Ala)
c.3374G>C (p.Gly1125Ala)
c.3281G>C (p.Gly1094Ala)
c.2756G>C (p.Gly919Ala)
c.3071G>C (p.Gly1024Ala)
n.7643G>C
3g.9473300G=CA1344740088SETD5n.1730G=
c.3356G= (p.Gly1119=)
n.3764G=
n.829G=
n.4335G=
n.4691G=
c.3260G= (p.Gly1087=)
c.*3406G= (n.*3406G=)
c.*3329G= (n.*3329G=)
c.*3634G= (n.*3634G=)
c.*3365G= (n.*3365G=)
c.2966G= (p.Gly989=)
c.2262G=
c.3317G= (p.Gly1106=)
c.2296G=
c.1251G=
n.2601G=
n.328G=
n.65G=
n.3424G=
c.3434G= (p.Gly1145=)
c.3413G= (p.Gly1138=)
c.3395G= (p.Gly1132=)
c.3377G= (p.Gly1126=)
c.3338G= (p.Gly1113=)
c.3299G= (p.Gly1100=)
c.3023G= (p.Gly1008=)
c.2984G= (p.Gly995=)
c.3374G= (p.Gly1125=)
c.3281G= (p.Gly1094=)
c.2756G= (p.Gly919=)
c.3071G= (p.Gly1024=)
n.7643G=
3g.9473300G>TCA351685155SETD5n.1730G>T
c.3356G>T (p.Gly1119Val)
n.3764G>T
n.829G>T
n.4335G>T
n.4691G>T
c.3260G>T (p.Gly1087Val)
c.*3406G>T (n.*3406G>T)
c.*3329G>T (n.*3329G>T)
c.*3634G>T (n.*3634G>T)
c.*3365G>T (n.*3365G>T)
c.2966G>T (p.Gly989Val)
c.2262G>T
c.3317G>T (p.Gly1106Val)
c.2296G>T
c.1251G>T
n.2601G>T
n.328G>T
n.65G>T
n.3424G>T
c.3434G>T (p.Gly1145Val)
c.3413G>T (p.Gly1138Val)
c.3395G>T (p.Gly1132Val)
c.3377G>T (p.Gly1126Val)
c.3338G>T (p.Gly1113Val)
c.3299G>T (p.Gly1100Val)
c.3023G>T (p.Gly1008Val)
c.2984G>T (p.Gly995Val)
c.3374G>T (p.Gly1125Val)
c.3281G>T (p.Gly1094Val)
c.2756G>T (p.Gly919Val)
c.3071G>T (p.Gly1024Val)
n.7643G>T
3g.9473301T>ACA432365739SETD5n.1731T>A
c.3357T>A (p.Gly1119=)
n.3765T>A
n.830T>A
n.4336T>A
n.4692T>A
c.3261T>A (p.Gly1087=)
c.*3407T>A (n.*3407T>A)
c.*3330T>A (n.*3330T>A)
c.*3635T>A (n.*3635T>A)
c.*3366T>A (n.*3366T>A)
c.2967T>A (p.Gly989=)
c.2263T>A
c.3318T>A (p.Gly1106=)
c.2297T>A
c.1252T>A
n.2602T>A
n.329T>A
n.66T>A
n.3425T>A
c.3435T>A (p.Gly1145=)
c.3414T>A (p.Gly1138=)
c.3396T>A (p.Gly1132=)
c.3378T>A (p.Gly1126=)
c.3339T>A (p.Gly1113=)
c.3300T>A (p.Gly1100=)
c.3024T>A (p.Gly1008=)
c.2985T>A (p.Gly995=)
c.3375T>A (p.Gly1125=)
c.3282T>A (p.Gly1094=)
c.2757T>A (p.Gly919=)
c.3072T>A (p.Gly1024=)
n.7644T>A
3g.9473301T>CCA432365740SETD5n.1731T>C
c.3357T>C (p.Gly1119=)
n.3765T>C
n.830T>C
n.4336T>C
n.4692T>C
c.3261T>C (p.Gly1087=)
c.*3407T>C (n.*3407T>C)
c.*3330T>C (n.*3330T>C)
c.*3635T>C (n.*3635T>C)
c.*3366T>C (n.*3366T>C)
c.2967T>C (p.Gly989=)
c.2263T>C
c.3318T>C (p.Gly1106=)
c.2297T>C
c.1252T>C
n.2602T>C
n.329T>C
n.66T>C
n.3425T>C
c.3435T>C (p.Gly1145=)
c.3414T>C (p.Gly1138=)
c.3396T>C (p.Gly1132=)
c.3378T>C (p.Gly1126=)
c.3339T>C (p.Gly1113=)
c.3300T>C (p.Gly1100=)
c.3024T>C (p.Gly1008=)
c.2985T>C (p.Gly995=)
c.3375T>C (p.Gly1125=)
c.3282T>C (p.Gly1094=)
c.2757T>C (p.Gly919=)
c.3072T>C (p.Gly1024=)
n.7644T>C
3g.9473301T>GCA432365741SETD5n.1731T>G
c.3357T>G (p.Gly1119=)
n.3765T>G
n.830T>G
n.4336T>G
n.4692T>G
c.3261T>G (p.Gly1087=)
c.*3407T>G (n.*3407T>G)
c.*3330T>G (n.*3330T>G)
c.*3635T>G (n.*3635T>G)
c.*3366T>G (n.*3366T>G)
c.2967T>G (p.Gly989=)
c.2263T>G
c.3318T>G (p.Gly1106=)
c.2297T>G
c.1252T>G
n.2602T>G
n.329T>G
n.66T>G
n.3425T>G
c.3435T>G (p.Gly1145=)
c.3414T>G (p.Gly1138=)
c.3396T>G (p.Gly1132=)
c.3378T>G (p.Gly1126=)
c.3339T>G (p.Gly1113=)
c.3300T>G (p.Gly1100=)
c.3024T>G (p.Gly1008=)
c.2985T>G (p.Gly995=)
c.3375T>G (p.Gly1125=)
c.3282T>G (p.Gly1094=)
c.2757T>G (p.Gly919=)
c.3072T>G (p.Gly1024=)
n.7644T>G
3g.9473302G>ACA351685161SETD5n.1732G>A
c.3358G>A (p.Asp1120Asn)
n.3766G>A
n.831G>A
n.4337G>A
n.4693G>A
c.3262G>A (p.Asp1088Asn)
c.*3408G>A (n.*3408G>A)
c.*3331G>A (n.*3331G>A)
c.*3636G>A (n.*3636G>A)
c.*3367G>A (n.*3367G>A)
c.2968G>A (p.Asp990Asn)
c.2264G>A
c.3319G>A (p.Asp1107Asn)
c.2298G>A
c.1253G>A
n.2603G>A
n.330G>A
n.67G>A
n.3426G>A
c.3436G>A (p.Asp1146Asn)
c.3415G>A (p.Asp1139Asn)
c.3397G>A (p.Asp1133Asn)
c.3379G>A (p.Asp1127Asn)
c.3340G>A (p.Asp1114Asn)
c.3301G>A (p.Asp1101Asn)
c.3025G>A (p.Asp1009Asn)
c.2986G>A (p.Asp996Asn)
c.3376G>A (p.Asp1126Asn)
c.3283G>A (p.Asp1095Asn)
c.2758G>A (p.Asp920Asn)
c.3073G>A (p.Asp1025Asn)
n.7645G>A
 ClinVar
3g.9473302G>CCA351685163SETD5n.1732G>C
c.3358G>C (p.Asp1120His)
n.3766G>C
n.831G>C
n.4337G>C
n.4693G>C
c.3262G>C (p.Asp1088His)
c.*3408G>C (n.*3408G>C)
c.*3331G>C (n.*3331G>C)
c.*3636G>C (n.*3636G>C)
c.*3367G>C (n.*3367G>C)
c.2968G>C (p.Asp990His)
c.2264G>C
c.3319G>C (p.Asp1107His)
c.2298G>C
c.1253G>C
n.2603G>C
n.330G>C
n.67G>C
n.3426G>C
c.3436G>C (p.Asp1146His)
c.3415G>C (p.Asp1139His)
c.3397G>C (p.Asp1133His)
c.3379G>C (p.Asp1127His)
c.3340G>C (p.Asp1114His)
c.3301G>C (p.Asp1101His)
c.3025G>C (p.Asp1009His)
c.2986G>C (p.Asp996His)
c.3376G>C (p.Asp1126His)
c.3283G>C (p.Asp1095His)
c.2758G>C (p.Asp920His)
c.3073G>C (p.Asp1025His)
n.7645G>C
3g.9473302G>TCA351685166SETD5n.1732G>T
c.3358G>T (p.Asp1120Tyr)
n.3766G>T
n.831G>T
n.4337G>T
n.4693G>T
c.3262G>T (p.Asp1088Tyr)
c.*3408G>T (n.*3408G>T)
c.*3331G>T (n.*3331G>T)
c.*3636G>T (n.*3636G>T)
c.*3367G>T (n.*3367G>T)
c.2968G>T (p.Asp990Tyr)
c.2264G>T
c.3319G>T (p.Asp1107Tyr)
c.2298G>T
c.1253G>T
n.2603G>T
n.330G>T
n.67G>T
n.3426G>T
c.3436G>T (p.Asp1146Tyr)
c.3415G>T (p.Asp1139Tyr)
c.3397G>T (p.Asp1133Tyr)
c.3379G>T (p.Asp1127Tyr)
c.3340G>T (p.Asp1114Tyr)
c.3301G>T (p.Asp1101Tyr)
c.3025G>T (p.Asp1009Tyr)
c.2986G>T (p.Asp996Tyr)
c.3376G>T (p.Asp1126Tyr)
c.3283G>T (p.Asp1095Tyr)
c.2758G>T (p.Asp920Tyr)
c.3073G>T (p.Asp1025Tyr)
n.7645G>T
3g.9473303A>CCA351685167SETD5n.1733A>C
c.3359A>C (p.Asp1120Ala)
n.3767A>C
n.832A>C
n.4338A>C
n.4694A>C
c.3263A>C (p.Asp1088Ala)
c.*3409A>C (n.*3409A>C)
c.*3332A>C (n.*3332A>C)
c.*3637A>C (n.*3637A>C)
c.*3368A>C (n.*3368A>C)
c.2969A>C (p.Asp990Ala)
c.2265A>C
c.3320A>C (p.Asp1107Ala)
c.2299A>C
c.1254A>C
n.2604A>C
n.331A>C
n.68A>C
n.3427A>C
c.3437A>C (p.Asp1146Ala)
c.3416A>C (p.Asp1139Ala)
c.3398A>C (p.Asp1133Ala)
c.3380A>C (p.Asp1127Ala)
c.3341A>C (p.Asp1114Ala)
c.3302A>C (p.Asp1101Ala)
c.3026A>C (p.Asp1009Ala)
c.2987A>C (p.Asp996Ala)
c.3377A>C (p.Asp1126Ala)
c.3284A>C (p.Asp1095Ala)
c.2759A>C (p.Asp920Ala)
c.3074A>C (p.Asp1025Ala)
n.7646A>C
3g.9473303A>GCA351685168SETD5n.1733A>G
c.3359A>G (p.Asp1120Gly)
n.3767A>G
n.832A>G
n.4338A>G
n.4694A>G
c.3263A>G (p.Asp1088Gly)
c.*3409A>G (n.*3409A>G)
c.*3332A>G (n.*3332A>G)
c.*3637A>G (n.*3637A>G)
c.*3368A>G (n.*3368A>G)
c.2969A>G (p.Asp990Gly)
c.2265A>G
c.3320A>G (p.Asp1107Gly)
c.2299A>G
c.1254A>G
n.2604A>G
n.331A>G
n.68A>G
n.3427A>G
c.3437A>G (p.Asp1146Gly)
c.3416A>G (p.Asp1139Gly)
c.3398A>G (p.Asp1133Gly)
c.3380A>G (p.Asp1127Gly)
c.3341A>G (p.Asp1114Gly)
c.3302A>G (p.Asp1101Gly)
c.3026A>G (p.Asp1009Gly)
c.2987A>G (p.Asp996Gly)
c.3377A>G (p.Asp1126Gly)
c.3284A>G (p.Asp1095Gly)
c.2759A>G (p.Asp920Gly)
c.3074A>G (p.Asp1025Gly)
n.7646A>G
3g.9473303A>TCA351685173SETD5n.1733A>T
c.3359A>T (p.Asp1120Val)
n.3767A>T
n.832A>T
n.4338A>T
n.4694A>T
c.3263A>T (p.Asp1088Val)
c.*3409A>T (n.*3409A>T)
c.*3332A>T (n.*3332A>T)
c.*3637A>T (n.*3637A>T)
c.*3368A>T (n.*3368A>T)
c.2969A>T (p.Asp990Val)
c.2265A>T
c.3320A>T (p.Asp1107Val)
c.2299A>T
c.1254A>T
n.2604A>T
n.331A>T
n.68A>T
n.3427A>T
c.3437A>T (p.Asp1146Val)
c.3416A>T (p.Asp1139Val)
c.3398A>T (p.Asp1133Val)
c.3380A>T (p.Asp1127Val)
c.3341A>T (p.Asp1114Val)
c.3302A>T (p.Asp1101Val)
c.3026A>T (p.Asp1009Val)
c.2987A>T (p.Asp996Val)
c.3377A>T (p.Asp1126Val)
c.3284A>T (p.Asp1095Val)
c.2759A>T (p.Asp920Val)
c.3074A>T (p.Asp1025Val)
n.7646A>T
3g.9473303_9473305delinsACTCA1344740092SETD5n.1733_1735delinsACT
c.3359_3361delinsACT (p.Asp1120=)
n.3767_3769delinsACT
n.832_834delinsACT
n.4338_4340delinsACT
n.4694_4696delinsACT
c.3263_3265delinsACT (p.Asp1088=)
c.*3409_*3411delinsACT (n.*3409_*3411delinsACT)
c.*3332_*3334delinsACT (n.*3332_*3334delinsACT)
c.*3637_*3639delinsACT (n.*3637_*3639delinsACT)
c.*3368_*3370delinsACT (n.*3368_*3370delinsACT)
c.2969_2971delinsACT (p.Asp990=)
c.2265_2267delinsACT
c.3320_3322delinsACT (p.Asp1107=)
c.2299_2301delinsACT
c.1254_1256delinsACT
n.2604_2606delinsACT
n.331_333delinsACT
n.68_70delinsACT
n.3427_3429delinsACT
c.3437_3439delinsACT (p.Asp1146=)
c.3416_3418delinsACT (p.Asp1139=)
c.3398_3400delinsACT (p.Asp1133=)
c.3380_3382delinsACT (p.Asp1127=)
c.3341_3343delinsACT (p.Asp1114=)
c.3302_3304delinsACT (p.Asp1101=)
c.3026_3028delinsACT (p.Asp1009=)
c.2987_2989delinsACT (p.Asp996=)
c.3377_3379delinsACT (p.Asp1126=)
c.3284_3286delinsACT (p.Asp1095=)
c.2759_2761delinsACT (p.Asp920=)
c.3074_3076delinsACT (p.Asp1025=)
n.7646_7648delinsACT
3g.9473304C>ACA351685177SETD5n.1734C>A
c.3360C>A (p.Asp1120Glu)
n.3768C>A
n.833C>A
n.4339C>A
n.4695C>A
c.3264C>A (p.Asp1088Glu)
c.*3410C>A (n.*3410C>A)
c.*3333C>A (n.*3333C>A)
c.*3638C>A (n.*3638C>A)
c.*3369C>A (n.*3369C>A)
c.2970C>A (p.Asp990Glu)
c.2266C>A
c.3321C>A (p.Asp1107Glu)
c.2300C>A
c.1255C>A
n.2605C>A
n.332C>A
n.69C>A
n.3428C>A
c.3438C>A (p.Asp1146Glu)
c.3417C>A (p.Asp1139Glu)
c.3399C>A (p.Asp1133Glu)
c.3381C>A (p.Asp1127Glu)
c.3342C>A (p.Asp1114Glu)
c.3303C>A (p.Asp1101Glu)
c.3027C>A (p.Asp1009Glu)
c.2988C>A (p.Asp996Glu)
c.3378C>A (p.Asp1126Glu)
c.3285C>A (p.Asp1095Glu)
c.2760C>A (p.Asp920Glu)
c.3075C>A (p.Asp1025Glu)
n.7647C>A
3g.9473304C>GCA351685178SETD5n.1734C>G
c.3360C>G (p.Asp1120Glu)
n.3768C>G
n.833C>G
n.4339C>G
n.4695C>G
c.3264C>G (p.Asp1088Glu)
c.*3410C>G (n.*3410C>G)
c.*3333C>G (n.*3333C>G)
c.*3638C>G (n.*3638C>G)
c.*3369C>G (n.*3369C>G)
c.2970C>G (p.Asp990Glu)
c.2266C>G
c.3321C>G (p.Asp1107Glu)
c.2300C>G
c.1255C>G
n.2605C>G
n.332C>G
n.69C>G
n.3428C>G
c.3438C>G (p.Asp1146Glu)
c.3417C>G (p.Asp1139Glu)
c.3399C>G (p.Asp1133Glu)
c.3381C>G (p.Asp1127Glu)
c.3342C>G (p.Asp1114Glu)
c.3303C>G (p.Asp1101Glu)
c.3027C>G (p.Asp1009Glu)
c.2988C>G (p.Asp996Glu)
c.3378C>G (p.Asp1126Glu)
c.3285C>G (p.Asp1095Glu)
c.2760C>G (p.Asp920Glu)
c.3075C>G (p.Asp1025Glu)
n.7647C>G
3g.9473304C>TCA432365742SETD5n.1734C>T
c.3360C>T (p.Asp1120=)
n.3768C>T
n.833C>T
n.4339C>T
n.4695C>T
c.3264C>T (p.Asp1088=)
c.*3410C>T (n.*3410C>T)
c.*3333C>T (n.*3333C>T)
c.*3638C>T (n.*3638C>T)
c.*3369C>T (n.*3369C>T)
c.2970C>T (p.Asp990=)
c.2266C>T
c.3321C>T (p.Asp1107=)
c.2300C>T
c.1255C>T
n.2605C>T
n.332C>T
n.69C>T
n.3428C>T
c.3438C>T (p.Asp1146=)
c.3417C>T (p.Asp1139=)
c.3399C>T (p.Asp1133=)
c.3381C>T (p.Asp1127=)
c.3342C>T (p.Asp1114=)
c.3303C>T (p.Asp1101=)
c.3027C>T (p.Asp1009=)
c.2988C>T (p.Asp996=)
c.3378C>T (p.Asp1126=)
c.3285C>T (p.Asp1095=)
c.2760C>T (p.Asp920=)
c.3075C>T (p.Asp1025=)
n.7647C>T
3g.9473306_9473307delCA16618013SETD5n.1736_1737del
c.3362_3363del (p.Ser1121CysfsTer16)
n.3770_3771del
n.835_836del
n.4341_4342del
n.4697_4698del
c.3266_3267del (p.Ser1089CysfsTer16)
c.*3412_*3413del (n.*3412_*3413del)
c.*3335_*3336del (n.*3335_*3336del)
c.*3640_*3641del (n.*3640_*3641del)
c.*3371_*3372del (n.*3371_*3372del)
c.2972_2973del (p.Ser991CysfsTer16)
c.2268_2269del
c.3323_3324del (p.Ser1108CysfsTer16)
c.2302_2303del
c.1257_1258del
n.2607_2608del
n.334_335del
n.71_72del
n.3430_3431del
c.3440_3441del (p.Ser1147CysfsTer16)
c.3419_3420del (p.Ser1140CysfsTer16)
c.3401_3402del (p.Ser1134CysfsTer16)
c.3383_3384del (p.Ser1128CysfsTer16)
c.3344_3345del (p.Ser1115CysfsTer16)
c.3305_3306del (p.Ser1102CysfsTer16)
c.3029_3030del (p.Ser1010CysfsTer16)
c.2990_2991del (p.Ser997CysfsTer16)
c.3380_3381del (p.Ser1127CysfsTer16)
c.3287_3288del (p.Ser1096CysfsTer16)
c.2762_2763del (p.Ser921CysfsTer16)
c.3077_3078del (p.Ser1026CysfsTer16)
n.7649_7650del
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9473305T>ACA351685180SETD5n.1735T>A
c.3361T>A (p.Ser1121Thr)
n.3769T>A
n.834T>A
n.4340T>A
n.4696T>A
c.3265T>A (p.Ser1089Thr)
c.*3411T>A (n.*3411T>A)
c.*3334T>A (n.*3334T>A)
c.*3639T>A (n.*3639T>A)
c.*3370T>A (n.*3370T>A)
c.2971T>A (p.Ser991Thr)
c.2267T>A
c.3322T>A (p.Ser1108Thr)
c.2301T>A
c.1256T>A
n.2606T>A
n.333T>A
n.70T>A
n.3429T>A
c.3439T>A (p.Ser1147Thr)
c.3418T>A (p.Ser1140Thr)
c.3400T>A (p.Ser1134Thr)
c.3382T>A (p.Ser1128Thr)
c.3343T>A (p.Ser1115Thr)
c.3304T>A (p.Ser1102Thr)
c.3028T>A (p.Ser1010Thr)
c.2989T>A (p.Ser997Thr)
c.3379T>A (p.Ser1127Thr)
c.3286T>A (p.Ser1096Thr)
c.2761T>A (p.Ser921Thr)
c.3076T>A (p.Ser1026Thr)
n.7648T>A
 ClinVar dbSNP gnomAD v4
3g.9473305T>CCA351685182SETD5n.1735T>C
c.3361T>C (p.Ser1121Pro)
n.3769T>C
n.834T>C
n.4340T>C
n.4696T>C
c.3265T>C (p.Ser1089Pro)
c.*3411T>C (n.*3411T>C)
c.*3334T>C (n.*3334T>C)
c.*3639T>C (n.*3639T>C)
c.*3370T>C (n.*3370T>C)
c.2971T>C (p.Ser991Pro)
c.2267T>C
c.3322T>C (p.Ser1108Pro)
c.2301T>C
c.1256T>C
n.2606T>C
n.333T>C
n.70T>C
n.3429T>C
c.3439T>C (p.Ser1147Pro)
c.3418T>C (p.Ser1140Pro)
c.3400T>C (p.Ser1134Pro)
c.3382T>C (p.Ser1128Pro)
c.3343T>C (p.Ser1115Pro)
c.3304T>C (p.Ser1102Pro)
c.3028T>C (p.Ser1010Pro)
c.2989T>C (p.Ser997Pro)
c.3379T>C (p.Ser1127Pro)
c.3286T>C (p.Ser1096Pro)
c.2761T>C (p.Ser921Pro)
c.3076T>C (p.Ser1026Pro)
n.7648T>C
3g.9473305T>GCA351685187SETD5n.1735T>G
c.3361T>G (p.Ser1121Ala)
n.3769T>G
n.834T>G
n.4340T>G
n.4696T>G
c.3265T>G (p.Ser1089Ala)
c.*3411T>G (n.*3411T>G)
c.*3334T>G (n.*3334T>G)
c.*3639T>G (n.*3639T>G)
c.*3370T>G (n.*3370T>G)
c.2971T>G (p.Ser991Ala)
c.2267T>G
c.3322T>G (p.Ser1108Ala)
c.2301T>G
c.1256T>G
n.2606T>G
n.333T>G
n.70T>G
n.3429T>G
c.3439T>G (p.Ser1147Ala)
c.3418T>G (p.Ser1140Ala)
c.3400T>G (p.Ser1134Ala)
c.3382T>G (p.Ser1128Ala)
c.3343T>G (p.Ser1115Ala)
c.3304T>G (p.Ser1102Ala)
c.3028T>G (p.Ser1010Ala)
c.2989T>G (p.Ser997Ala)
c.3379T>G (p.Ser1127Ala)
c.3286T>G (p.Ser1096Ala)
c.2761T>G (p.Ser921Ala)
c.3076T>G (p.Ser1026Ala)
n.7648T>G
3g.9473305T=CA1344740100SETD5n.1735T=
c.3361T= (p.Ser1121=)
n.3769T=
n.834T=
n.4340T=
n.4696T=
c.3265T= (p.Ser1089=)
c.*3411T= (n.*3411T=)
c.*3334T= (n.*3334T=)
c.*3639T= (n.*3639T=)
c.*3370T= (n.*3370T=)
c.2971T= (p.Ser991=)
c.2267T=
c.3322T= (p.Ser1108=)
c.2301T=
c.1256T=
n.2606T=
n.333T=
n.70T=
n.3429T=
c.3439T= (p.Ser1147=)
c.3418T= (p.Ser1140=)
c.3400T= (p.Ser1134=)
c.3382T= (p.Ser1128=)
c.3343T= (p.Ser1115=)
c.3304T= (p.Ser1102=)
c.3028T= (p.Ser1010=)
c.2989T= (p.Ser997=)
c.3379T= (p.Ser1127=)
c.3286T= (p.Ser1096=)
c.2761T= (p.Ser921=)
c.3076T= (p.Ser1026=)
n.7648T=
3g.9473306C>ACA351685197SETD5n.1736C>A
c.3362C>A (p.Ser1121Tyr)
n.3770C>A
n.835C>A
n.4341C>A
n.4697C>A
c.3266C>A (p.Ser1089Tyr)
c.*3412C>A (n.*3412C>A)
c.*3335C>A (n.*3335C>A)
c.*3640C>A (n.*3640C>A)
c.*3371C>A (n.*3371C>A)
c.2972C>A (p.Ser991Tyr)
c.2268C>A
c.3323C>A (p.Ser1108Tyr)
c.2302C>A
c.1257C>A
n.2607C>A
n.334C>A
n.71C>A
n.3430C>A
c.3440C>A (p.Ser1147Tyr)
c.3419C>A (p.Ser1140Tyr)
c.3401C>A (p.Ser1134Tyr)
c.3383C>A (p.Ser1128Tyr)
c.3344C>A (p.Ser1115Tyr)
c.3305C>A (p.Ser1102Tyr)
c.3029C>A (p.Ser1010Tyr)
c.2990C>A (p.Ser997Tyr)
c.3380C>A (p.Ser1127Tyr)
c.3287C>A (p.Ser1096Tyr)
c.2762C>A (p.Ser921Tyr)
c.3077C>A (p.Ser1026Tyr)
n.7649C>A
3g.9473306C=CA1344740105SETD5n.1736C=
c.3362C= (p.Ser1121=)
n.3770C=
n.835C=
n.4341C=
n.4697C=
c.3266C= (p.Ser1089=)
c.*3412C= (n.*3412C=)
c.*3335C= (n.*3335C=)
c.*3640C= (n.*3640C=)
c.*3371C= (n.*3371C=)
c.2972C= (p.Ser991=)
c.2268C=
c.3323C= (p.Ser1108=)
c.2302C=
c.1257C=
n.2607C=
n.334C=
n.71C=
n.3430C=
c.3440C= (p.Ser1147=)
c.3419C= (p.Ser1140=)
c.3401C= (p.Ser1134=)
c.3383C= (p.Ser1128=)
c.3344C= (p.Ser1115=)
c.3305C= (p.Ser1102=)
c.3029C= (p.Ser1010=)
c.2990C= (p.Ser997=)
c.3380C= (p.Ser1127=)
c.3287C= (p.Ser1096=)
c.2762C= (p.Ser921=)
c.3077C= (p.Ser1026=)
n.7649C=
3g.9473306C>GCA2239649SETD5n.1736C>G
c.3362C>G (p.Ser1121Cys)
n.3770C>G
n.835C>G
n.4341C>G
n.4697C>G
c.3266C>G (p.Ser1089Cys)
c.*3412C>G (n.*3412C>G)
c.*3335C>G (n.*3335C>G)
c.*3640C>G (n.*3640C>G)
c.*3371C>G (n.*3371C>G)
c.2972C>G (p.Ser991Cys)
c.2268C>G
c.3323C>G (p.Ser1108Cys)
c.2302C>G
c.1257C>G
n.2607C>G
n.334C>G
n.71C>G
n.3430C>G
c.3440C>G (p.Ser1147Cys)
c.3419C>G (p.Ser1140Cys)
c.3401C>G (p.Ser1134Cys)
c.3383C>G (p.Ser1128Cys)
c.3344C>G (p.Ser1115Cys)
c.3305C>G (p.Ser1102Cys)
c.3029C>G (p.Ser1010Cys)
c.2990C>G (p.Ser997Cys)
c.3380C>G (p.Ser1127Cys)
c.3287C>G (p.Ser1096Cys)
c.2762C>G (p.Ser921Cys)
c.3077C>G (p.Ser1026Cys)
n.7649C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473306C>TCA351685217SETD5n.1736C>T
c.3362C>T (p.Ser1121Phe)
n.3770C>T
n.835C>T
n.4341C>T
n.4697C>T
c.3266C>T (p.Ser1089Phe)
c.*3412C>T (n.*3412C>T)
c.*3335C>T (n.*3335C>T)
c.*3640C>T (n.*3640C>T)
c.*3371C>T (n.*3371C>T)
c.2972C>T (p.Ser991Phe)
c.2268C>T
c.3323C>T (p.Ser1108Phe)
c.2302C>T
c.1257C>T
n.2607C>T
n.334C>T
n.71C>T
n.3430C>T
c.3440C>T (p.Ser1147Phe)
c.3419C>T (p.Ser1140Phe)
c.3401C>T (p.Ser1134Phe)
c.3383C>T (p.Ser1128Phe)
c.3344C>T (p.Ser1115Phe)
c.3305C>T (p.Ser1102Phe)
c.3029C>T (p.Ser1010Phe)
c.2990C>T (p.Ser997Phe)
c.3380C>T (p.Ser1127Phe)
c.3287C>T (p.Ser1096Phe)
c.2762C>T (p.Ser921Phe)
c.3077C>T (p.Ser1026Phe)
n.7649C>T
3g.9473307T>ACA432365744SETD5n.1737T>A
c.3363T>A (p.Ser1121=)
n.3771T>A
n.836T>A
n.4342T>A
n.4698T>A
c.3267T>A (p.Ser1089=)
c.*3413T>A (n.*3413T>A)
c.*3336T>A (n.*3336T>A)
c.*3641T>A (n.*3641T>A)
c.*3372T>A (n.*3372T>A)
c.2973T>A (p.Ser991=)
c.2269T>A
c.3324T>A (p.Ser1108=)
c.2303T>A
c.1258T>A
n.2608T>A
n.335T>A
n.72T>A
n.3431T>A
c.3441T>A (p.Ser1147=)
c.3420T>A (p.Ser1140=)
c.3402T>A (p.Ser1134=)
c.3384T>A (p.Ser1128=)
c.3345T>A (p.Ser1115=)
c.3306T>A (p.Ser1102=)
c.3030T>A (p.Ser1010=)
c.2991T>A (p.Ser997=)
c.3381T>A (p.Ser1127=)
c.3288T>A (p.Ser1096=)
c.2763T>A (p.Ser921=)
c.3078T>A (p.Ser1026=)
n.7650T>A
3g.9473307T>CCA2239650SETD5n.1737T>C
c.3363T>C (p.Ser1121=)
n.3771T>C
n.836T>C
n.4342T>C
n.4698T>C
c.3267T>C (p.Ser1089=)
c.*3413T>C (n.*3413T>C)
c.*3336T>C (n.*3336T>C)
c.*3641T>C (n.*3641T>C)
c.*3372T>C (n.*3372T>C)
c.2973T>C (p.Ser991=)
c.2269T>C
c.3324T>C (p.Ser1108=)
c.2303T>C
c.1258T>C
n.2608T>C
n.335T>C
n.72T>C
n.3431T>C
c.3441T>C (p.Ser1147=)
c.3420T>C (p.Ser1140=)
c.3402T>C (p.Ser1134=)
c.3384T>C (p.Ser1128=)
c.3345T>C (p.Ser1115=)
c.3306T>C (p.Ser1102=)
c.3030T>C (p.Ser1010=)
c.2991T>C (p.Ser997=)
c.3381T>C (p.Ser1127=)
c.3288T>C (p.Ser1096=)
c.2763T>C (p.Ser921=)
c.3078T>C (p.Ser1026=)
n.7650T>C
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
3g.9473307T>GCA432365747SETD5n.1737T>G
c.3363T>G (p.Ser1121=)
n.3771T>G
n.836T>G
n.4342T>G
n.4698T>G
c.3267T>G (p.Ser1089=)
c.*3413T>G (n.*3413T>G)
c.*3336T>G (n.*3336T>G)
c.*3641T>G (n.*3641T>G)
c.*3372T>G (n.*3372T>G)
c.2973T>G (p.Ser991=)
c.2269T>G
c.3324T>G (p.Ser1108=)
c.2303T>G
c.1258T>G
n.2608T>G
n.335T>G
n.72T>G
n.3431T>G
c.3441T>G (p.Ser1147=)
c.3420T>G (p.Ser1140=)
c.3402T>G (p.Ser1134=)
c.3384T>G (p.Ser1128=)
c.3345T>G (p.Ser1115=)
c.3306T>G (p.Ser1102=)
c.3030T>G (p.Ser1010=)
c.2991T>G (p.Ser997=)
c.3381T>G (p.Ser1127=)
c.3288T>G (p.Ser1096=)
c.2763T>G (p.Ser921=)
c.3078T>G (p.Ser1026=)
n.7650T>G
3g.9473307T=CA1344740108SETD5n.1737T=
c.3363T= (p.Ser1121=)
n.3771T=
n.836T=
n.4342T=
n.4698T=
c.3267T= (p.Ser1089=)
c.*3413T= (n.*3413T=)
c.*3336T= (n.*3336T=)
c.*3641T= (n.*3641T=)
c.*3372T= (n.*3372T=)
c.2973T= (p.Ser991=)
c.2269T=
c.3324T= (p.Ser1108=)
c.2303T=
c.1258T=
n.2608T=
n.335T=
n.72T=
n.3431T=
c.3441T= (p.Ser1147=)
c.3420T= (p.Ser1140=)
c.3402T= (p.Ser1134=)
c.3384T= (p.Ser1128=)
c.3345T= (p.Ser1115=)
c.3306T= (p.Ser1102=)
c.3030T= (p.Ser1010=)
c.2991T= (p.Ser997=)
c.3381T= (p.Ser1127=)
c.3288T= (p.Ser1096=)
c.2763T= (p.Ser921=)
c.3078T= (p.Ser1026=)
n.7650T=
3g.9473308G>ACA2239651SETD5n.1738G>A
c.3364G>A (p.Ala1122Thr)
n.3772G>A
n.837G>A
n.4343G>A
n.4699G>A
c.3268G>A (p.Ala1090Thr)
c.*3414G>A (n.*3414G>A)
c.*3337G>A (n.*3337G>A)
c.*3642G>A (n.*3642G>A)
c.*3373G>A (n.*3373G>A)
c.2974G>A (p.Ala992Thr)
c.2270G>A
c.3325G>A (p.Ala1109Thr)
c.2304G>A
c.1259G>A
n.2609G>A
n.336G>A
n.73G>A
n.3432G>A
c.3442G>A (p.Ala1148Thr)
c.3421G>A (p.Ala1141Thr)
c.3403G>A (p.Ala1135Thr)
c.3385G>A (p.Ala1129Thr)
c.3346G>A (p.Ala1116Thr)
c.3307G>A (p.Ala1103Thr)
c.3031G>A (p.Ala1011Thr)
c.2992G>A (p.Ala998Thr)
c.3382G>A (p.Ala1128Thr)
c.3289G>A (p.Ala1097Thr)
c.2764G>A (p.Ala922Thr)
c.3079G>A (p.Ala1027Thr)
n.7651G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473308G>CCA351685234SETD5n.1738G>C
c.3364G>C (p.Ala1122Pro)
n.3772G>C
n.837G>C
n.4343G>C
n.4699G>C
c.3268G>C (p.Ala1090Pro)
c.*3414G>C (n.*3414G>C)
c.*3337G>C (n.*3337G>C)
c.*3642G>C (n.*3642G>C)
c.*3373G>C (n.*3373G>C)
c.2974G>C (p.Ala992Pro)
c.2270G>C
c.3325G>C (p.Ala1109Pro)
c.2304G>C
c.1259G>C
n.2609G>C
n.336G>C
n.73G>C
n.3432G>C
c.3442G>C (p.Ala1148Pro)
c.3421G>C (p.Ala1141Pro)
c.3403G>C (p.Ala1135Pro)
c.3385G>C (p.Ala1129Pro)
c.3346G>C (p.Ala1116Pro)
c.3307G>C (p.Ala1103Pro)
c.3031G>C (p.Ala1011Pro)
c.2992G>C (p.Ala998Pro)
c.3382G>C (p.Ala1128Pro)
c.3289G>C (p.Ala1097Pro)
c.2764G>C (p.Ala922Pro)
c.3079G>C (p.Ala1027Pro)
n.7651G>C
3g.9473308G=CA1344740113SETD5n.1738G=
c.3364G= (p.Ala1122=)
n.3772G=
n.837G=
n.4343G=
n.4699G=
c.3268G= (p.Ala1090=)
c.*3414G= (n.*3414G=)
c.*3337G= (n.*3337G=)
c.*3642G= (n.*3642G=)
c.*3373G= (n.*3373G=)
c.2974G= (p.Ala992=)
c.2270G=
c.3325G= (p.Ala1109=)
c.2304G=
c.1259G=
n.2609G=
n.336G=
n.73G=
n.3432G=
c.3442G= (p.Ala1148=)
c.3421G= (p.Ala1141=)
c.3403G= (p.Ala1135=)
c.3385G= (p.Ala1129=)
c.3346G= (p.Ala1116=)
c.3307G= (p.Ala1103=)
c.3031G= (p.Ala1011=)
c.2992G= (p.Ala998=)
c.3382G= (p.Ala1128=)
c.3289G= (p.Ala1097=)
c.2764G= (p.Ala922=)
c.3079G= (p.Ala1027=)
n.7651G=
3g.9473308G>TCA351685235SETD5n.1738G>T
c.3364G>T (p.Ala1122Ser)
n.3772G>T
n.837G>T
n.4343G>T
n.4699G>T
c.3268G>T (p.Ala1090Ser)
c.*3414G>T (n.*3414G>T)
c.*3337G>T (n.*3337G>T)
c.*3642G>T (n.*3642G>T)
c.*3373G>T (n.*3373G>T)
c.2974G>T (p.Ala992Ser)
c.2270G>T
c.3325G>T (p.Ala1109Ser)
c.2304G>T
c.1259G>T
n.2609G>T
n.336G>T
n.73G>T
n.3432G>T
c.3442G>T (p.Ala1148Ser)
c.3421G>T (p.Ala1141Ser)
c.3403G>T (p.Ala1135Ser)
c.3385G>T (p.Ala1129Ser)
c.3346G>T (p.Ala1116Ser)
c.3307G>T (p.Ala1103Ser)
c.3031G>T (p.Ala1011Ser)
c.2992G>T (p.Ala998Ser)
c.3382G>T (p.Ala1128Ser)
c.3289G>T (p.Ala1097Ser)
c.2764G>T (p.Ala922Ser)
c.3079G>T (p.Ala1027Ser)
n.7651G>T
3g.9473309C>ACA351685240SETD5n.1739C>A
c.3365C>A (p.Ala1122Glu)
n.3773C>A
n.838C>A
n.4344C>A
n.4700C>A
c.3269C>A (p.Ala1090Glu)
c.*3415C>A (n.*3415C>A)
c.*3338C>A (n.*3338C>A)
c.*3643C>A (n.*3643C>A)
c.*3374C>A (n.*3374C>A)
c.2975C>A (p.Ala992Glu)
c.2271C>A
c.3326C>A (p.Ala1109Glu)
c.2305C>A
c.1260C>A
n.2610C>A
n.337C>A
n.74C>A
n.3433C>A
c.3443C>A (p.Ala1148Glu)
c.3422C>A (p.Ala1141Glu)
c.3404C>A (p.Ala1135Glu)
c.3386C>A (p.Ala1129Glu)
c.3347C>A (p.Ala1116Glu)
c.3308C>A (p.Ala1103Glu)
c.3032C>A (p.Ala1011Glu)
c.2993C>A (p.Ala998Glu)
c.3383C>A (p.Ala1128Glu)
c.3290C>A (p.Ala1097Glu)
c.2765C>A (p.Ala922Glu)
c.3080C>A (p.Ala1027Glu)
n.7652C>A
3g.9473309C>GCA351685245SETD5n.1739C>G
c.3365C>G (p.Ala1122Gly)
n.3773C>G
n.838C>G
n.4344C>G
n.4700C>G
c.3269C>G (p.Ala1090Gly)
c.*3415C>G (n.*3415C>G)
c.*3338C>G (n.*3338C>G)
c.*3643C>G (n.*3643C>G)
c.*3374C>G (n.*3374C>G)
c.2975C>G (p.Ala992Gly)
c.2271C>G
c.3326C>G (p.Ala1109Gly)
c.2305C>G
c.1260C>G
n.2610C>G
n.337C>G
n.74C>G
n.3433C>G
c.3443C>G (p.Ala1148Gly)
c.3422C>G (p.Ala1141Gly)
c.3404C>G (p.Ala1135Gly)
c.3386C>G (p.Ala1129Gly)
c.3347C>G (p.Ala1116Gly)
c.3308C>G (p.Ala1103Gly)
c.3032C>G (p.Ala1011Gly)
c.2993C>G (p.Ala998Gly)
c.3383C>G (p.Ala1128Gly)
c.3290C>G (p.Ala1097Gly)
c.2765C>G (p.Ala922Gly)
c.3080C>G (p.Ala1027Gly)
n.7652C>G
3g.9473309C>TCA351685236SETD5n.1739C>T
c.3365C>T (p.Ala1122Val)
n.3773C>T
n.838C>T
n.4344C>T
n.4700C>T
c.3269C>T (p.Ala1090Val)
c.*3415C>T (n.*3415C>T)
c.*3338C>T (n.*3338C>T)
c.*3643C>T (n.*3643C>T)
c.*3374C>T (n.*3374C>T)
c.2975C>T (p.Ala992Val)
c.2271C>T
c.3326C>T (p.Ala1109Val)
c.2305C>T
c.1260C>T
n.2610C>T
n.337C>T
n.74C>T
n.3433C>T
c.3443C>T (p.Ala1148Val)
c.3422C>T (p.Ala1141Val)
c.3404C>T (p.Ala1135Val)
c.3386C>T (p.Ala1129Val)
c.3347C>T (p.Ala1116Val)
c.3308C>T (p.Ala1103Val)
c.3032C>T (p.Ala1011Val)
c.2993C>T (p.Ala998Val)
c.3383C>T (p.Ala1128Val)
c.3290C>T (p.Ala1097Val)
c.2765C>T (p.Ala922Val)
c.3080C>T (p.Ala1027Val)
n.7652C>T
3g.9473310A>CCA432365749SETD5n.1740A>C
c.3366A>C (p.Ala1122=)
n.3774A>C
n.839A>C
n.4345A>C
n.4701A>C
c.3270A>C (p.Ala1090=)
c.*3416A>C (n.*3416A>C)
c.*3339A>C (n.*3339A>C)
c.*3644A>C (n.*3644A>C)
c.*3375A>C (n.*3375A>C)
c.2976A>C (p.Ala992=)
c.2272A>C
c.3327A>C (p.Ala1109=)
c.2306A>C
c.1261A>C
n.2611A>C
n.338A>C
n.75A>C
n.3434A>C
c.3444A>C (p.Ala1148=)
c.3423A>C (p.Ala1141=)
c.3405A>C (p.Ala1135=)
c.3387A>C (p.Ala1129=)
c.3348A>C (p.Ala1116=)
c.3309A>C (p.Ala1103=)
c.3033A>C (p.Ala1011=)
c.2994A>C (p.Ala998=)
c.3384A>C (p.Ala1128=)
c.3291A>C (p.Ala1097=)
c.2766A>C (p.Ala922=)
c.3081A>C (p.Ala1027=)
n.7653A>C
3g.9473310A>GCA432365750SETD5n.1740A>G
c.3366A>G (p.Ala1122=)
n.3774A>G
n.839A>G
n.4345A>G
n.4701A>G
c.3270A>G (p.Ala1090=)
c.*3416A>G (n.*3416A>G)
c.*3339A>G (n.*3339A>G)
c.*3644A>G (n.*3644A>G)
c.*3375A>G (n.*3375A>G)
c.2976A>G (p.Ala992=)
c.2272A>G
c.3327A>G (p.Ala1109=)
c.2306A>G
c.1261A>G
n.2611A>G
n.338A>G
n.75A>G
n.3434A>G
c.3444A>G (p.Ala1148=)
c.3423A>G (p.Ala1141=)
c.3405A>G (p.Ala1135=)
c.3387A>G (p.Ala1129=)
c.3348A>G (p.Ala1116=)
c.3309A>G (p.Ala1103=)
c.3033A>G (p.Ala1011=)
c.2994A>G (p.Ala998=)
c.3384A>G (p.Ala1128=)
c.3291A>G (p.Ala1097=)
c.2766A>G (p.Ala922=)
c.3081A>G (p.Ala1027=)
n.7653A>G
 gnomAD v4
3g.9473310A>TCA432365751SETD5n.1740A>T
c.3366A>T (p.Ala1122=)
n.3774A>T
n.839A>T
n.4345A>T
n.4701A>T
c.3270A>T (p.Ala1090=)
c.*3416A>T (n.*3416A>T)
c.*3339A>T (n.*3339A>T)
c.*3644A>T (n.*3644A>T)
c.*3375A>T (n.*3375A>T)
c.2976A>T (p.Ala992=)
c.2272A>T
c.3327A>T (p.Ala1109=)
c.2306A>T
c.1261A>T
n.2611A>T
n.338A>T
n.75A>T
n.3434A>T
c.3444A>T (p.Ala1148=)
c.3423A>T (p.Ala1141=)
c.3405A>T (p.Ala1135=)
c.3387A>T (p.Ala1129=)
c.3348A>T (p.Ala1116=)
c.3309A>T (p.Ala1103=)
c.3033A>T (p.Ala1011=)
c.2994A>T (p.Ala998=)
c.3384A>T (p.Ala1128=)
c.3291A>T (p.Ala1097=)
c.2766A>T (p.Ala922=)
c.3081A>T (p.Ala1027=)
n.7653A>T
3g.9473311C>ACA351685249SETD5n.1741C>A
c.3367C>A (p.Gln1123Lys)
n.3775C>A
n.840C>A
n.4346C>A
n.4702C>A
c.3271C>A (p.Gln1091Lys)
c.*3417C>A (n.*3417C>A)
c.*3340C>A (n.*3340C>A)
c.*3645C>A (n.*3645C>A)
c.*3376C>A (n.*3376C>A)
c.2977C>A (p.Gln993Lys)
c.2273C>A
c.3328C>A (p.Gln1110Lys)
c.2307C>A
c.1262C>A
n.2612C>A
n.339C>A
n.76C>A
n.3435C>A
c.3445C>A (p.Gln1149Lys)
c.3424C>A (p.Gln1142Lys)
c.3406C>A (p.Gln1136Lys)
c.3388C>A (p.Gln1130Lys)
c.3349C>A (p.Gln1117Lys)
c.3310C>A (p.Gln1104Lys)
c.3034C>A (p.Gln1012Lys)
c.2995C>A (p.Gln999Lys)
c.3385C>A (p.Gln1129Lys)
c.3292C>A (p.Gln1098Lys)
c.2767C>A (p.Gln923Lys)
c.3082C>A (p.Gln1028Lys)
n.7654C>A
3g.9473311C>GCA351685256SETD5n.1741C>G
c.3367C>G (p.Gln1123Glu)
n.3775C>G
n.840C>G
n.4346C>G
n.4702C>G
c.3271C>G (p.Gln1091Glu)
c.*3417C>G (n.*3417C>G)
c.*3340C>G (n.*3340C>G)
c.*3645C>G (n.*3645C>G)
c.*3376C>G (n.*3376C>G)
c.2977C>G (p.Gln993Glu)
c.2273C>G
c.3328C>G (p.Gln1110Glu)
c.2307C>G
c.1262C>G
n.2612C>G
n.339C>G
n.76C>G
n.3435C>G
c.3445C>G (p.Gln1149Glu)
c.3424C>G (p.Gln1142Glu)
c.3406C>G (p.Gln1136Glu)
c.3388C>G (p.Gln1130Glu)
c.3349C>G (p.Gln1117Glu)
c.3310C>G (p.Gln1104Glu)
c.3034C>G (p.Gln1012Glu)
c.2995C>G (p.Gln999Glu)
c.3385C>G (p.Gln1129Glu)
c.3292C>G (p.Gln1098Glu)
c.2767C>G (p.Gln923Glu)
c.3082C>G (p.Gln1028Glu)
n.7654C>G
3g.9473311C>TCA351685259SETD5n.1741C>T
c.3367C>T (p.Gln1123Ter)
n.3775C>T
n.840C>T
n.4346C>T
n.4702C>T
c.3271C>T (p.Gln1091Ter)
c.*3417C>T (n.*3417C>T)
c.*3340C>T (n.*3340C>T)
c.*3645C>T (n.*3645C>T)
c.*3376C>T (n.*3376C>T)
c.2977C>T (p.Gln993Ter)
c.2273C>T
c.3328C>T (p.Gln1110Ter)
c.2307C>T
c.1262C>T
n.2612C>T
n.339C>T
n.76C>T
n.3435C>T
c.3445C>T (p.Gln1149Ter)
c.3424C>T (p.Gln1142Ter)
c.3406C>T (p.Gln1136Ter)
c.3388C>T (p.Gln1130Ter)
c.3349C>T (p.Gln1117Ter)
c.3310C>T (p.Gln1104Ter)
c.3034C>T (p.Gln1012Ter)
c.2995C>T (p.Gln999Ter)
c.3385C>T (p.Gln1129Ter)
c.3292C>T (p.Gln1098Ter)
c.2767C>T (p.Gln923Ter)
c.3082C>T (p.Gln1028Ter)
n.7654C>T
3g.9473312A=CA1344740116SETD5n.1742A=
c.3368A= (p.Gln1123=)
n.3776A=
n.841A=
n.4347A=
n.4703A=
c.3272A= (p.Gln1091=)
c.*3418A= (n.*3418A=)
c.*3341A= (n.*3341A=)
c.*3646A= (n.*3646A=)
c.*3377A= (n.*3377A=)
c.2978A= (p.Gln993=)
c.2274A=
c.3329A= (p.Gln1110=)
c.2308A=
c.1263A=
n.2613A=
n.340A=
n.77A=
n.3436A=
c.3446A= (p.Gln1149=)
c.3425A= (p.Gln1142=)
c.3407A= (p.Gln1136=)
c.3389A= (p.Gln1130=)
c.3350A= (p.Gln1117=)
c.3311A= (p.Gln1104=)
c.3035A= (p.Gln1012=)
c.2996A= (p.Gln999=)
c.3386A= (p.Gln1129=)
c.3293A= (p.Gln1098=)
c.2768A= (p.Gln923=)
c.3083A= (p.Gln1028=)
n.7655A=
3g.9473312A>CCA351685261SETD5n.1742A>C
c.3368A>C (p.Gln1123Pro)
n.3776A>C
n.841A>C
n.4347A>C
n.4703A>C
c.3272A>C (p.Gln1091Pro)
c.*3418A>C (n.*3418A>C)
c.*3341A>C (n.*3341A>C)
c.*3646A>C (n.*3646A>C)
c.*3377A>C (n.*3377A>C)
c.2978A>C (p.Gln993Pro)
c.2274A>C
c.3329A>C (p.Gln1110Pro)
c.2308A>C
c.1263A>C
n.2613A>C
n.340A>C
n.77A>C
n.3436A>C
c.3446A>C (p.Gln1149Pro)
c.3425A>C (p.Gln1142Pro)
c.3407A>C (p.Gln1136Pro)
c.3389A>C (p.Gln1130Pro)
c.3350A>C (p.Gln1117Pro)
c.3311A>C (p.Gln1104Pro)
c.3035A>C (p.Gln1012Pro)
c.2996A>C (p.Gln999Pro)
c.3386A>C (p.Gln1129Pro)
c.3293A>C (p.Gln1098Pro)
c.2768A>C (p.Gln923Pro)
c.3083A>C (p.Gln1028Pro)
n.7655A>C
 dbSNP gnomAD v2 gnomAD v4
3g.9473312A>GCA351685267SETD5n.1742A>G
c.3368A>G (p.Gln1123Arg)
n.3776A>G
n.841A>G
n.4347A>G
n.4703A>G
c.3272A>G (p.Gln1091Arg)
c.*3418A>G (n.*3418A>G)
c.*3341A>G (n.*3341A>G)
c.*3646A>G (n.*3646A>G)
c.*3377A>G (n.*3377A>G)
c.2978A>G (p.Gln993Arg)
c.2274A>G
c.3329A>G (p.Gln1110Arg)
c.2308A>G
c.1263A>G
n.2613A>G
n.340A>G
n.77A>G
n.3436A>G
c.3446A>G (p.Gln1149Arg)
c.3425A>G (p.Gln1142Arg)
c.3407A>G (p.Gln1136Arg)
c.3389A>G (p.Gln1130Arg)
c.3350A>G (p.Gln1117Arg)
c.3311A>G (p.Gln1104Arg)
c.3035A>G (p.Gln1012Arg)
c.2996A>G (p.Gln999Arg)
c.3386A>G (p.Gln1129Arg)
c.3293A>G (p.Gln1098Arg)
c.2768A>G (p.Gln923Arg)
c.3083A>G (p.Gln1028Arg)
n.7655A>G
3g.9473312A>TCA351685270SETD5n.1742A>T
c.3368A>T (p.Gln1123Leu)
n.3776A>T
n.841A>T
n.4347A>T
n.4703A>T
c.3272A>T (p.Gln1091Leu)
c.*3418A>T (n.*3418A>T)
c.*3341A>T (n.*3341A>T)
c.*3646A>T (n.*3646A>T)
c.*3377A>T (n.*3377A>T)
c.2978A>T (p.Gln993Leu)
c.2274A>T
c.3329A>T (p.Gln1110Leu)
c.2308A>T
c.1263A>T
n.2613A>T
n.340A>T
n.77A>T
n.3436A>T
c.3446A>T (p.Gln1149Leu)
c.3425A>T (p.Gln1142Leu)
c.3407A>T (p.Gln1136Leu)
c.3389A>T (p.Gln1130Leu)
c.3350A>T (p.Gln1117Leu)
c.3311A>T (p.Gln1104Leu)
c.3035A>T (p.Gln1012Leu)
c.2996A>T (p.Gln999Leu)
c.3386A>T (p.Gln1129Leu)
c.3293A>T (p.Gln1098Leu)
c.2768A>T (p.Gln923Leu)
c.3083A>T (p.Gln1028Leu)
n.7655A>T
3g.9473313G>ACA432365753SETD5n.1743G>A
c.3369G>A (p.Gln1123=)
n.3777G>A
n.842G>A
n.4348G>A
n.4704G>A
c.3273G>A (p.Gln1091=)
c.*3419G>A (n.*3419G>A)
c.*3342G>A (n.*3342G>A)
c.*3647G>A (n.*3647G>A)
c.*3378G>A (n.*3378G>A)
c.2979G>A (p.Gln993=)
c.2275G>A
c.3330G>A (p.Gln1110=)
c.2309G>A
c.1264G>A
n.2614G>A
n.341G>A
n.78G>A
n.3437G>A
c.3447G>A (p.Gln1149=)
c.3426G>A (p.Gln1142=)
c.3408G>A (p.Gln1136=)
c.3390G>A (p.Gln1130=)
c.3351G>A (p.Gln1117=)
c.3312G>A (p.Gln1104=)
c.3036G>A (p.Gln1012=)
c.2997G>A (p.Gln999=)
c.3387G>A (p.Gln1129=)
c.3294G>A (p.Gln1098=)
c.2769G>A (p.Gln923=)
c.3084G>A (p.Gln1028=)
n.7656G>A
 gnomAD v4
3g.9473313G>CCA351685280SETD5n.1743G>C
c.3369G>C (p.Gln1123His)
n.3777G>C
n.842G>C
n.4348G>C
n.4704G>C
c.3273G>C (p.Gln1091His)
c.*3419G>C (n.*3419G>C)
c.*3342G>C (n.*3342G>C)
c.*3647G>C (n.*3647G>C)
c.*3378G>C (n.*3378G>C)
c.2979G>C (p.Gln993His)
c.2275G>C
c.3330G>C (p.Gln1110His)
c.2309G>C
c.1264G>C
n.2614G>C
n.341G>C
n.78G>C
n.3437G>C
c.3447G>C (p.Gln1149His)
c.3426G>C (p.Gln1142His)
c.3408G>C (p.Gln1136His)
c.3390G>C (p.Gln1130His)
c.3351G>C (p.Gln1117His)
c.3312G>C (p.Gln1104His)
c.3036G>C (p.Gln1012His)
c.2997G>C (p.Gln999His)
c.3387G>C (p.Gln1129His)
c.3294G>C (p.Gln1098His)
c.2769G>C (p.Gln923His)
c.3084G>C (p.Gln1028His)
n.7656G>C
3g.9473313G>TCA351685274SETD5n.1743G>T
c.3369G>T (p.Gln1123His)
n.3777G>T
n.842G>T
n.4348G>T
n.4704G>T
c.3273G>T (p.Gln1091His)
c.*3419G>T (n.*3419G>T)
c.*3342G>T (n.*3342G>T)
c.*3647G>T (n.*3647G>T)
c.*3378G>T (n.*3378G>T)
c.2979G>T (p.Gln993His)
c.2275G>T
c.3330G>T (p.Gln1110His)
c.2309G>T
c.1264G>T
n.2614G>T
n.341G>T
n.78G>T
n.3437G>T
c.3447G>T (p.Gln1149His)
c.3426G>T (p.Gln1142His)
c.3408G>T (p.Gln1136His)
c.3390G>T (p.Gln1130His)
c.3351G>T (p.Gln1117His)
c.3312G>T (p.Gln1104His)
c.3036G>T (p.Gln1012His)
c.2997G>T (p.Gln999His)
c.3387G>T (p.Gln1129His)
c.3294G>T (p.Gln1098His)
c.2769G>T (p.Gln923His)
c.3084G>T (p.Gln1028His)
n.7656G>T
3g.9473314A>CCA351685283SETD5n.1744A>C
c.3370A>C (p.Ser1124Arg)
n.3778A>C
n.843A>C
n.4349A>C
n.4705A>C
c.3274A>C (p.Ser1092Arg)
c.*3420A>C (n.*3420A>C)
c.*3343A>C (n.*3343A>C)
c.*3648A>C (n.*3648A>C)
c.*3379A>C (n.*3379A>C)
c.2980A>C (p.Ser994Arg)
c.2276A>C
c.3331A>C (p.Ser1111Arg)
c.2310A>C
c.1265A>C
n.2615A>C
n.342A>C
n.79A>C
n.3438A>C
c.3448A>C (p.Ser1150Arg)
c.3427A>C (p.Ser1143Arg)
c.3409A>C (p.Ser1137Arg)
c.3391A>C (p.Ser1131Arg)
c.3352A>C (p.Ser1118Arg)
c.3313A>C (p.Ser1105Arg)
c.3037A>C (p.Ser1013Arg)
c.2998A>C (p.Ser1000Arg)
c.3388A>C (p.Ser1130Arg)
c.3295A>C (p.Ser1099Arg)
c.2770A>C (p.Ser924Arg)
c.3085A>C (p.Ser1029Arg)
n.7657A>C
3g.9473314A>GCA351685290SETD5n.1744A>G
c.3370A>G (p.Ser1124Gly)
n.3778A>G
n.843A>G
n.4349A>G
n.4705A>G
c.3274A>G (p.Ser1092Gly)
c.*3420A>G (n.*3420A>G)
c.*3343A>G (n.*3343A>G)
c.*3648A>G (n.*3648A>G)
c.*3379A>G (n.*3379A>G)
c.2980A>G (p.Ser994Gly)
c.2276A>G
c.3331A>G (p.Ser1111Gly)
c.2310A>G
c.1265A>G
n.2615A>G
n.342A>G
n.79A>G
n.3438A>G
c.3448A>G (p.Ser1150Gly)
c.3427A>G (p.Ser1143Gly)
c.3409A>G (p.Ser1137Gly)
c.3391A>G (p.Ser1131Gly)
c.3352A>G (p.Ser1118Gly)
c.3313A>G (p.Ser1105Gly)
c.3037A>G (p.Ser1013Gly)
c.2998A>G (p.Ser1000Gly)
c.3388A>G (p.Ser1130Gly)
c.3295A>G (p.Ser1099Gly)
c.2770A>G (p.Ser924Gly)
c.3085A>G (p.Ser1029Gly)
n.7657A>G
3g.9473314A>TCA351685295SETD5n.1744A>T
c.3370A>T (p.Ser1124Cys)
n.3778A>T
n.843A>T
n.4349A>T
n.4705A>T
c.3274A>T (p.Ser1092Cys)
c.*3420A>T (n.*3420A>T)
c.*3343A>T (n.*3343A>T)
c.*3648A>T (n.*3648A>T)
c.*3379A>T (n.*3379A>T)
c.2980A>T (p.Ser994Cys)
c.2276A>T
c.3331A>T (p.Ser1111Cys)
c.2310A>T
c.1265A>T
n.2615A>T
n.342A>T
n.79A>T
n.3438A>T
c.3448A>T (p.Ser1150Cys)
c.3427A>T (p.Ser1143Cys)
c.3409A>T (p.Ser1137Cys)
c.3391A>T (p.Ser1131Cys)
c.3352A>T (p.Ser1118Cys)
c.3313A>T (p.Ser1105Cys)
c.3037A>T (p.Ser1013Cys)
c.2998A>T (p.Ser1000Cys)
c.3388A>T (p.Ser1130Cys)
c.3295A>T (p.Ser1099Cys)
c.2770A>T (p.Ser924Cys)
c.3085A>T (p.Ser1029Cys)
n.7657A>T
3g.9473315G>ACA2239652SETD5n.1745G>A
c.3371G>A (p.Ser1124Asn)
n.3779G>A
n.844G>A
n.4350G>A
n.4706G>A
c.3275G>A (p.Ser1092Asn)
c.*3421G>A (n.*3421G>A)
c.*3344G>A (n.*3344G>A)
c.*3649G>A (n.*3649G>A)
c.*3380G>A (n.*3380G>A)
c.2981G>A (p.Ser994Asn)
c.2277G>A
c.3332G>A (p.Ser1111Asn)
c.2311G>A
c.1266G>A
n.2616G>A
n.343G>A
n.80G>A
n.3439G>A
c.3449G>A (p.Ser1150Asn)
c.3428G>A (p.Ser1143Asn)
c.3410G>A (p.Ser1137Asn)
c.3392G>A (p.Ser1131Asn)
c.3353G>A (p.Ser1118Asn)
c.3314G>A (p.Ser1105Asn)
c.3038G>A (p.Ser1013Asn)
c.2999G>A (p.Ser1000Asn)
c.3389G>A (p.Ser1130Asn)
c.3296G>A (p.Ser1099Asn)
c.2771G>A (p.Ser924Asn)
c.3086G>A (p.Ser1029Asn)
n.7658G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473315G>CCA351685301SETD5n.1745G>C
c.3371G>C (p.Ser1124Thr)
n.3779G>C
n.844G>C
n.4350G>C
n.4706G>C
c.3275G>C (p.Ser1092Thr)
c.*3421G>C (n.*3421G>C)
c.*3344G>C (n.*3344G>C)
c.*3649G>C (n.*3649G>C)
c.*3380G>C (n.*3380G>C)
c.2981G>C (p.Ser994Thr)
c.2277G>C
c.3332G>C (p.Ser1111Thr)
c.2311G>C
c.1266G>C
n.2616G>C
n.343G>C
n.80G>C
n.3439G>C
c.3449G>C (p.Ser1150Thr)
c.3428G>C (p.Ser1143Thr)
c.3410G>C (p.Ser1137Thr)
c.3392G>C (p.Ser1131Thr)
c.3353G>C (p.Ser1118Thr)
c.3314G>C (p.Ser1105Thr)
c.3038G>C (p.Ser1013Thr)
c.2999G>C (p.Ser1000Thr)
c.3389G>C (p.Ser1130Thr)
c.3296G>C (p.Ser1099Thr)
c.2771G>C (p.Ser924Thr)
c.3086G>C (p.Ser1029Thr)
n.7658G>C
3g.9473315G=CA1344740119SETD5n.1745G=
c.3371G= (p.Ser1124=)
n.3779G=
n.844G=
n.4350G=
n.4706G=
c.3275G= (p.Ser1092=)
c.*3421G= (n.*3421G=)
c.*3344G= (n.*3344G=)
c.*3649G= (n.*3649G=)
c.*3380G= (n.*3380G=)
c.2981G= (p.Ser994=)
c.2277G=
c.3332G= (p.Ser1111=)
c.2311G=
c.1266G=
n.2616G=
n.343G=
n.80G=
n.3439G=
c.3449G= (p.Ser1150=)
c.3428G= (p.Ser1143=)
c.3410G= (p.Ser1137=)
c.3392G= (p.Ser1131=)
c.3353G= (p.Ser1118=)
c.3314G= (p.Ser1105=)
c.3038G= (p.Ser1013=)
c.2999G= (p.Ser1000=)
c.3389G= (p.Ser1130=)
c.3296G= (p.Ser1099=)
c.2771G= (p.Ser924=)
c.3086G= (p.Ser1029=)
n.7658G=
3g.9473315G>TCA351685305SETD5n.1745G>T
c.3371G>T (p.Ser1124Ile)
n.3779G>T
n.844G>T
n.4350G>T
n.4706G>T
c.3275G>T (p.Ser1092Ile)
c.*3421G>T (n.*3421G>T)
c.*3344G>T (n.*3344G>T)
c.*3649G>T (n.*3649G>T)
c.*3380G>T (n.*3380G>T)
c.2981G>T (p.Ser994Ile)
c.2277G>T
c.3332G>T (p.Ser1111Ile)
c.2311G>T
c.1266G>T
n.2616G>T
n.343G>T
n.80G>T
n.3439G>T
c.3449G>T (p.Ser1150Ile)
c.3428G>T (p.Ser1143Ile)
c.3410G>T (p.Ser1137Ile)
c.3392G>T (p.Ser1131Ile)
c.3353G>T (p.Ser1118Ile)
c.3314G>T (p.Ser1105Ile)
c.3038G>T (p.Ser1013Ile)
c.2999G>T (p.Ser1000Ile)
c.3389G>T (p.Ser1130Ile)
c.3296G>T (p.Ser1099Ile)
c.2771G>T (p.Ser924Ile)
c.3086G>T (p.Ser1029Ile)
n.7658G>T
3g.9473316C>ACA351685309SETD5n.1746C>A
c.3372C>A (p.Ser1124Arg)
n.3780C>A
n.845C>A
n.4351C>A
n.4707C>A
c.3276C>A (p.Ser1092Arg)
c.*3422C>A (n.*3422C>A)
c.*3345C>A (n.*3345C>A)
c.*3650C>A (n.*3650C>A)
c.*3381C>A (n.*3381C>A)
c.2982C>A (p.Ser994Arg)
c.2278C>A
c.3333C>A (p.Ser1111Arg)
c.2312C>A
c.1267C>A
n.2617C>A
n.344C>A
n.81C>A
n.3440C>A
c.3450C>A (p.Ser1150Arg)
c.3429C>A (p.Ser1143Arg)
c.3411C>A (p.Ser1137Arg)
c.3393C>A (p.Ser1131Arg)
c.3354C>A (p.Ser1118Arg)
c.3315C>A (p.Ser1105Arg)
c.3039C>A (p.Ser1013Arg)
c.3000C>A (p.Ser1000Arg)
c.3390C>A (p.Ser1130Arg)
c.3297C>A (p.Ser1099Arg)
c.2772C>A (p.Ser924Arg)
c.3087C>A (p.Ser1029Arg)
n.7659C>A
3g.9473316C=CA1344740125SETD5n.1746C=
c.3372C= (p.Ser1124=)
n.3780C=
n.845C=
n.4351C=
n.4707C=
c.3276C= (p.Ser1092=)
c.*3422C= (n.*3422C=)
c.*3345C= (n.*3345C=)
c.*3650C= (n.*3650C=)
c.*3381C= (n.*3381C=)
c.2982C= (p.Ser994=)
c.2278C=
c.3333C= (p.Ser1111=)
c.2312C=
c.1267C=
n.2617C=
n.344C=
n.81C=
n.3440C=
c.3450C= (p.Ser1150=)
c.3429C= (p.Ser1143=)
c.3411C= (p.Ser1137=)
c.3393C= (p.Ser1131=)
c.3354C= (p.Ser1118=)
c.3315C= (p.Ser1105=)
c.3039C= (p.Ser1013=)
c.3000C= (p.Ser1000=)
c.3390C= (p.Ser1130=)
c.3297C= (p.Ser1099=)
c.2772C= (p.Ser924=)
c.3087C= (p.Ser1029=)
n.7659C=
3g.9473316C>GCA351685312SETD5n.1746C>G
c.3372C>G (p.Ser1124Arg)
n.3780C>G
n.845C>G
n.4351C>G
n.4707C>G
c.3276C>G (p.Ser1092Arg)
c.*3422C>G (n.*3422C>G)
c.*3345C>G (n.*3345C>G)
c.*3650C>G (n.*3650C>G)
c.*3381C>G (n.*3381C>G)
c.2982C>G (p.Ser994Arg)
c.2278C>G
c.3333C>G (p.Ser1111Arg)
c.2312C>G
c.1267C>G
n.2617C>G
n.344C>G
n.81C>G
n.3440C>G
c.3450C>G (p.Ser1150Arg)
c.3429C>G (p.Ser1143Arg)
c.3411C>G (p.Ser1137Arg)
c.3393C>G (p.Ser1131Arg)
c.3354C>G (p.Ser1118Arg)
c.3315C>G (p.Ser1105Arg)
c.3039C>G (p.Ser1013Arg)
c.3000C>G (p.Ser1000Arg)
c.3390C>G (p.Ser1130Arg)
c.3297C>G (p.Ser1099Arg)
c.2772C>G (p.Ser924Arg)
c.3087C>G (p.Ser1029Arg)
n.7659C>G
 ClinVar
3g.9473316C>TCA2239653SETD5n.1746C>T
c.3372C>T (p.Ser1124=)
n.3780C>T
n.845C>T
n.4351C>T
n.4707C>T
c.3276C>T (p.Ser1092=)
c.*3422C>T (n.*3422C>T)
c.*3345C>T (n.*3345C>T)
c.*3650C>T (n.*3650C>T)
c.*3381C>T (n.*3381C>T)
c.2982C>T (p.Ser994=)
c.2278C>T
c.3333C>T (p.Ser1111=)
c.2312C>T
c.1267C>T
n.2617C>T
n.344C>T
n.81C>T
n.3440C>T
c.3450C>T (p.Ser1150=)
c.3429C>T (p.Ser1143=)
c.3411C>T (p.Ser1137=)
c.3393C>T (p.Ser1131=)
c.3354C>T (p.Ser1118=)
c.3315C>T (p.Ser1105=)
c.3039C>T (p.Ser1013=)
c.3000C>T (p.Ser1000=)
c.3390C>T (p.Ser1130=)
c.3297C>T (p.Ser1099=)
c.2772C>T (p.Ser924=)
c.3087C>T (p.Ser1029=)
n.7659C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9473317A=CA1344740131SETD5n.1747A=
c.3373A= (p.Lys1125=)
n.3781A=
n.846A=
n.4352A=
n.4708A=
c.3277A= (p.Lys1093=)
c.*3423A= (n.*3423A=)
c.*3346A= (n.*3346A=)
c.*3651A= (n.*3651A=)
c.*3382A= (n.*3382A=)
c.2983A= (p.Lys995=)
c.2279A=
c.3334A= (p.Lys1112=)
c.2313A=
c.1268A=
n.2618A=
n.345A=
n.82A=
n.3441A=
c.3451A= (p.Lys1151=)
c.3430A= (p.Lys1144=)
c.3412A= (p.Lys1138=)
c.3394A= (p.Lys1132=)
c.3355A= (p.Lys1119=)
c.3316A= (p.Lys1106=)
c.3040A= (p.Lys1014=)
c.3001A= (p.Lys1001=)
c.3391A= (p.Lys1131=)
c.3298A= (p.Lys1100=)
c.2773A= (p.Lys925=)
c.3088A= (p.Lys1030=)
n.7660A=
3g.9473317A>CCA351685315SETD5n.1747A>C
c.3373A>C (p.Lys1125Gln)
n.3781A>C
n.846A>C
n.4352A>C
n.4708A>C
c.3277A>C (p.Lys1093Gln)
c.*3423A>C (n.*3423A>C)
c.*3346A>C (n.*3346A>C)
c.*3651A>C (n.*3651A>C)
c.*3382A>C (n.*3382A>C)
c.2983A>C (p.Lys995Gln)
c.2279A>C
c.3334A>C (p.Lys1112Gln)
c.2313A>C
c.1268A>C
n.2618A>C
n.345A>C
n.82A>C
n.3441A>C
c.3451A>C (p.Lys1151Gln)
c.3430A>C (p.Lys1144Gln)
c.3412A>C (p.Lys1138Gln)
c.3394A>C (p.Lys1132Gln)
c.3355A>C (p.Lys1119Gln)
c.3316A>C (p.Lys1106Gln)
c.3040A>C (p.Lys1014Gln)
c.3001A>C (p.Lys1001Gln)
c.3391A>C (p.Lys1131Gln)
c.3298A>C (p.Lys1100Gln)
c.2773A>C (p.Lys925Gln)
c.3088A>C (p.Lys1030Gln)
n.7660A>C
3g.9473317A>GCA351685318SETD5n.1747A>G
c.3373A>G (p.Lys1125Glu)
n.3781A>G
n.846A>G
n.4352A>G
n.4708A>G
c.3277A>G (p.Lys1093Glu)
c.*3423A>G (n.*3423A>G)
c.*3346A>G (n.*3346A>G)
c.*3651A>G (n.*3651A>G)
c.*3382A>G (n.*3382A>G)
c.2983A>G (p.Lys995Glu)
c.2279A>G
c.3334A>G (p.Lys1112Glu)
c.2313A>G
c.1268A>G
n.2618A>G
n.345A>G
n.82A>G
n.3441A>G
c.3451A>G (p.Lys1151Glu)
c.3430A>G (p.Lys1144Glu)
c.3412A>G (p.Lys1138Glu)
c.3394A>G (p.Lys1132Glu)
c.3355A>G (p.Lys1119Glu)
c.3316A>G (p.Lys1106Glu)
c.3040A>G (p.Lys1014Glu)
c.3001A>G (p.Lys1001Glu)
c.3391A>G (p.Lys1131Glu)
c.3298A>G (p.Lys1100Glu)
c.2773A>G (p.Lys925Glu)
c.3088A>G (p.Lys1030Glu)
n.7660A>G
3g.9473317A>TCA16618014SETD5n.1747A>T
c.3373A>T (p.Lys1125Ter)
n.3781A>T
n.846A>T
n.4352A>T
n.4708A>T
c.3277A>T (p.Lys1093Ter)
c.*3423A>T (n.*3423A>T)
c.*3346A>T (n.*3346A>T)
c.*3651A>T (n.*3651A>T)
c.*3382A>T (n.*3382A>T)
c.2983A>T (p.Lys995Ter)
c.2279A>T
c.3334A>T (p.Lys1112Ter)
c.2313A>T
c.1268A>T
n.2618A>T
n.345A>T
n.82A>T
n.3441A>T
c.3451A>T (p.Lys1151Ter)
c.3430A>T (p.Lys1144Ter)
c.3412A>T (p.Lys1138Ter)
c.3394A>T (p.Lys1132Ter)
c.3355A>T (p.Lys1119Ter)
c.3316A>T (p.Lys1106Ter)
c.3040A>T (p.Lys1014Ter)
c.3001A>T (p.Lys1001Ter)
c.3391A>T (p.Lys1131Ter)
c.3298A>T (p.Lys1100Ter)
c.2773A>T (p.Lys925Ter)
c.3088A>T (p.Lys1030Ter)
n.7660A>T
 ClinVar dbSNP
3g.9473318A>CCA351685327SETD5n.1748A>C
c.3374A>C (p.Lys1125Thr)
n.3782A>C
n.847A>C
n.4353A>C
n.4709A>C
c.3278A>C (p.Lys1093Thr)
c.*3424A>C (n.*3424A>C)
c.*3347A>C (n.*3347A>C)
c.*3652A>C (n.*3652A>C)
c.*3383A>C (n.*3383A>C)
c.2984A>C (p.Lys995Thr)
c.2280A>C
c.3335A>C (p.Lys1112Thr)
c.2314A>C
c.1269A>C
n.2619A>C
n.346A>C
n.83A>C
n.3442A>C
c.3452A>C (p.Lys1151Thr)
c.3431A>C (p.Lys1144Thr)
c.3413A>C (p.Lys1138Thr)
c.3395A>C (p.Lys1132Thr)
c.3356A>C (p.Lys1119Thr)
c.3317A>C (p.Lys1106Thr)
c.3041A>C (p.Lys1014Thr)
c.3002A>C (p.Lys1001Thr)
c.3392A>C (p.Lys1131Thr)
c.3299A>C (p.Lys1100Thr)
c.2774A>C (p.Lys925Thr)
c.3089A>C (p.Lys1030Thr)
n.7661A>C
3g.9473318A>GCA351685328SETD5n.1748A>G
c.3374A>G (p.Lys1125Arg)
n.3782A>G
n.847A>G
n.4353A>G
n.4709A>G
c.3278A>G (p.Lys1093Arg)
c.*3424A>G (n.*3424A>G)
c.*3347A>G (n.*3347A>G)
c.*3652A>G (n.*3652A>G)
c.*3383A>G (n.*3383A>G)
c.2984A>G (p.Lys995Arg)
c.2280A>G
c.3335A>G (p.Lys1112Arg)
c.2314A>G
c.1269A>G
n.2619A>G
n.346A>G
n.83A>G
n.3442A>G
c.3452A>G (p.Lys1151Arg)
c.3431A>G (p.Lys1144Arg)
c.3413A>G (p.Lys1138Arg)
c.3395A>G (p.Lys1132Arg)
c.3356A>G (p.Lys1119Arg)
c.3317A>G (p.Lys1106Arg)
c.3041A>G (p.Lys1014Arg)
c.3002A>G (p.Lys1001Arg)
c.3392A>G (p.Lys1131Arg)
c.3299A>G (p.Lys1100Arg)
c.2774A>G (p.Lys925Arg)
c.3089A>G (p.Lys1030Arg)
n.7661A>G
3g.9473318A>TCA351685329SETD5n.1748A>T
c.3374A>T (p.Lys1125Ile)
n.3782A>T
n.847A>T
n.4353A>T
n.4709A>T
c.3278A>T (p.Lys1093Ile)
c.*3424A>T (n.*3424A>T)
c.*3347A>T (n.*3347A>T)
c.*3652A>T (n.*3652A>T)
c.*3383A>T (n.*3383A>T)
c.2984A>T (p.Lys995Ile)
c.2280A>T
c.3335A>T (p.Lys1112Ile)
c.2314A>T
c.1269A>T
n.2619A>T
n.346A>T
n.83A>T
n.3442A>T
c.3452A>T (p.Lys1151Ile)
c.3431A>T (p.Lys1144Ile)
c.3413A>T (p.Lys1138Ile)
c.3395A>T (p.Lys1132Ile)
c.3356A>T (p.Lys1119Ile)
c.3317A>T (p.Lys1106Ile)
c.3041A>T (p.Lys1014Ile)
c.3002A>T (p.Lys1001Ile)
c.3392A>T (p.Lys1131Ile)
c.3299A>T (p.Lys1100Ile)
c.2774A>T (p.Lys925Ile)
c.3089A>T (p.Lys1030Ile)
n.7661A>T
3g.9473319A=CA1344740135SETD5n.1749A=
c.3375A= (p.Lys1125=)
n.3783A=
n.848A=
n.4354A=
n.4710A=
c.3279A= (p.Lys1093=)
c.*3425A= (n.*3425A=)
c.*3348A= (n.*3348A=)
c.*3653A= (n.*3653A=)
c.*3384A= (n.*3384A=)
c.2985A= (p.Lys995=)
c.2281A=
c.3336A= (p.Lys1112=)
c.2315A=
c.1270A=
n.2620A=
n.347A=
n.84A=
n.3443A=
c.3453A= (p.Lys1151=)
c.3432A= (p.Lys1144=)
c.3414A= (p.Lys1138=)
c.3396A= (p.Lys1132=)
c.3357A= (p.Lys1119=)
c.3318A= (p.Lys1106=)
c.3042A= (p.Lys1014=)
c.3003A= (p.Lys1001=)
c.3393A= (p.Lys1131=)
c.3300A= (p.Lys1100=)
c.2775A= (p.Lys925=)
c.3090A= (p.Lys1030=)
n.7662A=
3g.9473319A>CCA69951057SETD5n.1749A>C
c.3375A>C (p.Lys1125Asn)
n.3783A>C
n.848A>C
n.4354A>C
n.4710A>C
c.3279A>C (p.Lys1093Asn)
c.*3425A>C (n.*3425A>C)
c.*3348A>C (n.*3348A>C)
c.*3653A>C (n.*3653A>C)
c.*3384A>C (n.*3384A>C)
c.2985A>C (p.Lys995Asn)
c.2281A>C
c.3336A>C (p.Lys1112Asn)
c.2315A>C
c.1270A>C
n.2620A>C
n.347A>C
n.84A>C
n.3443A>C
c.3453A>C (p.Lys1151Asn)
c.3432A>C (p.Lys1144Asn)
c.3414A>C (p.Lys1138Asn)
c.3396A>C (p.Lys1132Asn)
c.3357A>C (p.Lys1119Asn)
c.3318A>C (p.Lys1106Asn)
c.3042A>C (p.Lys1014Asn)
c.3003A>C (p.Lys1001Asn)
c.3393A>C (p.Lys1131Asn)
c.3300A>C (p.Lys1100Asn)
c.2775A>C (p.Lys925Asn)
c.3090A>C (p.Lys1030Asn)
n.7662A>C
 ClinVar dbSNP gnomAD v4
3g.9473319A>GCA432365754SETD5n.1749A>G
c.3375A>G (p.Lys1125=)
n.3783A>G
n.848A>G
n.4354A>G
n.4710A>G
c.3279A>G (p.Lys1093=)
c.*3425A>G (n.*3425A>G)
c.*3348A>G (n.*3348A>G)
c.*3653A>G (n.*3653A>G)
c.*3384A>G (n.*3384A>G)
c.2985A>G (p.Lys995=)
c.2281A>G
c.3336A>G (p.Lys1112=)
c.2315A>G
c.1270A>G
n.2620A>G
n.347A>G
n.84A>G
n.3443A>G
c.3453A>G (p.Lys1151=)
c.3432A>G (p.Lys1144=)
c.3414A>G (p.Lys1138=)
c.3396A>G (p.Lys1132=)
c.3357A>G (p.Lys1119=)
c.3318A>G (p.Lys1106=)
c.3042A>G (p.Lys1014=)
c.3003A>G (p.Lys1001=)
c.3393A>G (p.Lys1131=)
c.3300A>G (p.Lys1100=)
c.2775A>G (p.Lys925=)
c.3090A>G (p.Lys1030=)
n.7662A>G
3g.9473319A>TCA351685337SETD5n.1749A>T
c.3375A>T (p.Lys1125Asn)
n.3783A>T
n.848A>T
n.4354A>T
n.4710A>T
c.3279A>T (p.Lys1093Asn)
c.*3425A>T (n.*3425A>T)
c.*3348A>T (n.*3348A>T)
c.*3653A>T (n.*3653A>T)
c.*3384A>T (n.*3384A>T)
c.2985A>T (p.Lys995Asn)
c.2281A>T
c.3336A>T (p.Lys1112Asn)
c.2315A>T
c.1270A>T
n.2620A>T
n.347A>T
n.84A>T
n.3443A>T
c.3453A>T (p.Lys1151Asn)
c.3432A>T (p.Lys1144Asn)
c.3414A>T (p.Lys1138Asn)
c.3396A>T (p.Lys1132Asn)
c.3357A>T (p.Lys1119Asn)
c.3318A>T (p.Lys1106Asn)
c.3042A>T (p.Lys1014Asn)
c.3003A>T (p.Lys1001Asn)
c.3393A>T (p.Lys1131Asn)
c.3300A>T (p.Lys1100Asn)
c.2775A>T (p.Lys925Asn)
c.3090A>T (p.Lys1030Asn)
n.7662A>T
3g.9473320A=CA1344740137SETD5n.1750A=
c.3376A= (p.Ser1126=)
n.3784A=
n.849A=
n.4355A=
n.4711A=
c.3280A= (p.Ser1094=)
c.*3426A= (n.*3426A=)
c.*3349A= (n.*3349A=)
c.*3654A= (n.*3654A=)
c.*3385A= (n.*3385A=)
c.2986A= (p.Ser996=)
c.2282A=
c.3337A= (p.Ser1113=)
c.2316A=
c.1271A=
n.2621A=
n.348A=
n.85A=
n.3444A=
c.3454A= (p.Ser1152=)
c.3433A= (p.Ser1145=)
c.3415A= (p.Ser1139=)
c.3397A= (p.Ser1133=)
c.3358A= (p.Ser1120=)
c.3319A= (p.Ser1107=)
c.3043A= (p.Ser1015=)
c.3004A= (p.Ser1002=)
c.3394A= (p.Ser1132=)
c.3301A= (p.Ser1101=)
c.2776A= (p.Ser926=)
c.3091A= (p.Ser1031=)
n.7663A=
3g.9473320A>CCA351685338SETD5n.1750A>C
c.3376A>C (p.Ser1126Arg)
n.3784A>C
n.849A>C
n.4355A>C
n.4711A>C
c.3280A>C (p.Ser1094Arg)
c.*3426A>C (n.*3426A>C)
c.*3349A>C (n.*3349A>C)
c.*3654A>C (n.*3654A>C)
c.*3385A>C (n.*3385A>C)
c.2986A>C (p.Ser996Arg)
c.2282A>C
c.3337A>C (p.Ser1113Arg)
c.2316A>C
c.1271A>C
n.2621A>C
n.348A>C
n.85A>C
n.3444A>C
c.3454A>C (p.Ser1152Arg)
c.3433A>C (p.Ser1145Arg)
c.3415A>C (p.Ser1139Arg)
c.3397A>C (p.Ser1133Arg)
c.3358A>C (p.Ser1120Arg)
c.3319A>C (p.Ser1107Arg)
c.3043A>C (p.Ser1015Arg)
c.3004A>C (p.Ser1002Arg)
c.3394A>C (p.Ser1132Arg)
c.3301A>C (p.Ser1101Arg)
c.2776A>C (p.Ser926Arg)
c.3091A>C (p.Ser1031Arg)
n.7663A>C
3g.9473320A>GCA351685339SETD5n.1750A>G
c.3376A>G (p.Ser1126Gly)
n.3784A>G
n.849A>G
n.4355A>G
n.4711A>G
c.3280A>G (p.Ser1094Gly)
c.*3426A>G (n.*3426A>G)
c.*3349A>G (n.*3349A>G)
c.*3654A>G (n.*3654A>G)
c.*3385A>G (n.*3385A>G)
c.2986A>G (p.Ser996Gly)
c.2282A>G
c.3337A>G (p.Ser1113Gly)
c.2316A>G
c.1271A>G
n.2621A>G
n.348A>G
n.85A>G
n.3444A>G
c.3454A>G (p.Ser1152Gly)
c.3433A>G (p.Ser1145Gly)
c.3415A>G (p.Ser1139Gly)
c.3397A>G (p.Ser1133Gly)
c.3358A>G (p.Ser1120Gly)
c.3319A>G (p.Ser1107Gly)
c.3043A>G (p.Ser1015Gly)
c.3004A>G (p.Ser1002Gly)
c.3394A>G (p.Ser1132Gly)
c.3301A>G (p.Ser1101Gly)
c.2776A>G (p.Ser926Gly)
c.3091A>G (p.Ser1031Gly)
n.7663A>G
 dbSNP gnomAD v2 gnomAD v4
3g.9473320A>TCA351685341SETD5n.1750A>T
c.3376A>T (p.Ser1126Cys)
n.3784A>T
n.849A>T
n.4355A>T
n.4711A>T
c.3280A>T (p.Ser1094Cys)
c.*3426A>T (n.*3426A>T)
c.*3349A>T (n.*3349A>T)
c.*3654A>T (n.*3654A>T)
c.*3385A>T (n.*3385A>T)
c.2986A>T (p.Ser996Cys)
c.2282A>T
c.3337A>T (p.Ser1113Cys)
c.2316A>T
c.1271A>T
n.2621A>T
n.348A>T
n.85A>T
n.3444A>T
c.3454A>T (p.Ser1152Cys)
c.3433A>T (p.Ser1145Cys)
c.3415A>T (p.Ser1139Cys)
c.3397A>T (p.Ser1133Cys)
c.3358A>T (p.Ser1120Cys)
c.3319A>T (p.Ser1107Cys)
c.3043A>T (p.Ser1015Cys)
c.3004A>T (p.Ser1002Cys)
c.3394A>T (p.Ser1132Cys)
c.3301A>T (p.Ser1101Cys)
c.2776A>T (p.Ser926Cys)
c.3091A>T (p.Ser1031Cys)
n.7663A>T
3g.9473321G>ACA2239654SETD5n.1751G>A
c.3377G>A (p.Ser1126Asn)
n.3785G>A
n.850G>A
n.4356G>A
n.4712G>A
c.3281G>A (p.Ser1094Asn)
c.*3427G>A (n.*3427G>A)
c.*3350G>A (n.*3350G>A)
c.*3655G>A (n.*3655G>A)
c.*3386G>A (n.*3386G>A)
c.2987G>A (p.Ser996Asn)
c.2283G>A
c.3338G>A (p.Ser1113Asn)
c.2317G>A
c.1272G>A
n.2622G>A
n.349G>A
n.86G>A
n.3445G>A
c.3455G>A (p.Ser1152Asn)
c.3434G>A (p.Ser1145Asn)
c.3416G>A (p.Ser1139Asn)
c.3398G>A (p.Ser1133Asn)
c.3359G>A (p.Ser1120Asn)
c.3320G>A (p.Ser1107Asn)
c.3044G>A (p.Ser1015Asn)
c.3005G>A (p.Ser1002Asn)
c.3395G>A (p.Ser1132Asn)
c.3302G>A (p.Ser1101Asn)
c.2777G>A (p.Ser926Asn)
c.3092G>A (p.Ser1031Asn)
n.7664G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473321G>CCA351685345SETD5n.1751G>C
c.3377G>C (p.Ser1126Thr)
n.3785G>C
n.850G>C
n.4356G>C
n.4712G>C
c.3281G>C (p.Ser1094Thr)
c.*3427G>C (n.*3427G>C)
c.*3350G>C (n.*3350G>C)
c.*3655G>C (n.*3655G>C)
c.*3386G>C (n.*3386G>C)
c.2987G>C (p.Ser996Thr)
c.2283G>C
c.3338G>C (p.Ser1113Thr)
c.2317G>C
c.1272G>C
n.2622G>C
n.349G>C
n.86G>C
n.3445G>C
c.3455G>C (p.Ser1152Thr)
c.3434G>C (p.Ser1145Thr)
c.3416G>C (p.Ser1139Thr)
c.3398G>C (p.Ser1133Thr)
c.3359G>C (p.Ser1120Thr)
c.3320G>C (p.Ser1107Thr)
c.3044G>C (p.Ser1015Thr)
c.3005G>C (p.Ser1002Thr)
c.3395G>C (p.Ser1132Thr)
c.3302G>C (p.Ser1101Thr)
c.2777G>C (p.Ser926Thr)
c.3092G>C (p.Ser1031Thr)
n.7664G>C
3g.9473321G=CA1344740139SETD5n.1751G=
c.3377G= (p.Ser1126=)
n.3785G=
n.850G=
n.4356G=
n.4712G=
c.3281G= (p.Ser1094=)
c.*3427G= (n.*3427G=)
c.*3350G= (n.*3350G=)
c.*3655G= (n.*3655G=)
c.*3386G= (n.*3386G=)
c.2987G= (p.Ser996=)
c.2283G=
c.3338G= (p.Ser1113=)
c.2317G=
c.1272G=
n.2622G=
n.349G=
n.86G=
n.3445G=
c.3455G= (p.Ser1152=)
c.3434G= (p.Ser1145=)
c.3416G= (p.Ser1139=)
c.3398G= (p.Ser1133=)
c.3359G= (p.Ser1120=)
c.3320G= (p.Ser1107=)
c.3044G= (p.Ser1015=)
c.3005G= (p.Ser1002=)
c.3395G= (p.Ser1132=)
c.3302G= (p.Ser1101=)
c.2777G= (p.Ser926=)
c.3092G= (p.Ser1031=)
n.7664G=
3g.9473321G>TCA351685344SETD5n.1751G>T
c.3377G>T (p.Ser1126Ile)
n.3785G>T
n.850G>T
n.4356G>T
n.4712G>T
c.3281G>T (p.Ser1094Ile)
c.*3427G>T (n.*3427G>T)
c.*3350G>T (n.*3350G>T)
c.*3655G>T (n.*3655G>T)
c.*3386G>T (n.*3386G>T)
c.2987G>T (p.Ser996Ile)
c.2283G>T
c.3338G>T (p.Ser1113Ile)
c.2317G>T
c.1272G>T
n.2622G>T
n.349G>T
n.86G>T
n.3445G>T
c.3455G>T (p.Ser1152Ile)
c.3434G>T (p.Ser1145Ile)
c.3416G>T (p.Ser1139Ile)
c.3398G>T (p.Ser1133Ile)
c.3359G>T (p.Ser1120Ile)
c.3320G>T (p.Ser1107Ile)
c.3044G>T (p.Ser1015Ile)
c.3005G>T (p.Ser1002Ile)
c.3395G>T (p.Ser1132Ile)
c.3302G>T (p.Ser1101Ile)
c.2777G>T (p.Ser926Ile)
c.3092G>T (p.Ser1031Ile)
n.7664G>T
 gnomAD v4
3g.9473322C>ACA351685348SETD5n.1752C>A
c.3378C>A (p.Ser1126Arg)
n.3786C>A
n.851C>A
n.4357C>A
n.4713C>A
c.3282C>A (p.Ser1094Arg)
c.*3428C>A (n.*3428C>A)
c.*3351C>A (n.*3351C>A)
c.*3656C>A (n.*3656C>A)
c.*3387C>A (n.*3387C>A)
c.2988C>A (p.Ser996Arg)
c.2284C>A
c.3339C>A (p.Ser1113Arg)
c.2318C>A
c.1273C>A
n.2623C>A
n.350C>A
n.87C>A
n.3446C>A
c.3456C>A (p.Ser1152Arg)
c.3435C>A (p.Ser1145Arg)
c.3417C>A (p.Ser1139Arg)
c.3399C>A (p.Ser1133Arg)
c.3360C>A (p.Ser1120Arg)
c.3321C>A (p.Ser1107Arg)
c.3045C>A (p.Ser1015Arg)
c.3006C>A (p.Ser1002Arg)
c.3396C>A (p.Ser1132Arg)
c.3303C>A (p.Ser1101Arg)
c.2778C>A (p.Ser926Arg)
c.3093C>A (p.Ser1031Arg)
n.7665C>A
3g.9473322C>GCA351685349SETD5n.1752C>G
c.3378C>G (p.Ser1126Arg)
n.3786C>G
n.851C>G
n.4357C>G
n.4713C>G
c.3282C>G (p.Ser1094Arg)
c.*3428C>G (n.*3428C>G)
c.*3351C>G (n.*3351C>G)
c.*3656C>G (n.*3656C>G)
c.*3387C>G (n.*3387C>G)
c.2988C>G (p.Ser996Arg)
c.2284C>G
c.3339C>G (p.Ser1113Arg)
c.2318C>G
c.1273C>G
n.2623C>G
n.350C>G
n.87C>G
n.3446C>G
c.3456C>G (p.Ser1152Arg)
c.3435C>G (p.Ser1145Arg)
c.3417C>G (p.Ser1139Arg)
c.3399C>G (p.Ser1133Arg)
c.3360C>G (p.Ser1120Arg)
c.3321C>G (p.Ser1107Arg)
c.3045C>G (p.Ser1015Arg)
c.3006C>G (p.Ser1002Arg)
c.3396C>G (p.Ser1132Arg)
c.3303C>G (p.Ser1101Arg)
c.2778C>G (p.Ser926Arg)
c.3093C>G (p.Ser1031Arg)
n.7665C>G
3g.9473322C>TCA432365755SETD5n.1752C>T
c.3378C>T (p.Ser1126=)
n.3786C>T
n.851C>T
n.4357C>T
n.4713C>T
c.3282C>T (p.Ser1094=)
c.*3428C>T (n.*3428C>T)
c.*3351C>T (n.*3351C>T)
c.*3656C>T (n.*3656C>T)
c.*3387C>T (n.*3387C>T)
c.2988C>T (p.Ser996=)
c.2284C>T
c.3339C>T (p.Ser1113=)
c.2318C>T
c.1273C>T
n.2623C>T
n.350C>T
n.87C>T
n.3446C>T
c.3456C>T (p.Ser1152=)
c.3435C>T (p.Ser1145=)
c.3417C>T (p.Ser1139=)
c.3399C>T (p.Ser1133=)
c.3360C>T (p.Ser1120=)
c.3321C>T (p.Ser1107=)
c.3045C>T (p.Ser1015=)
c.3006C>T (p.Ser1002=)
c.3396C>T (p.Ser1132=)
c.3303C>T (p.Ser1101=)
c.2778C>T (p.Ser926=)
c.3093C>T (p.Ser1031=)
n.7665C>T
 ClinVar dbSNP
3g.9473323A>CCA351685353SETD5n.1753A>C
c.3379A>C (p.Lys1127Gln)
n.3787A>C
n.852A>C
n.4358A>C
n.4714A>C
c.3283A>C (p.Lys1095Gln)
c.*3429A>C (n.*3429A>C)
c.*3352A>C (n.*3352A>C)
c.*3657A>C (n.*3657A>C)
c.*3388A>C (n.*3388A>C)
c.2989A>C (p.Lys997Gln)
c.2285A>C
c.3340A>C (p.Lys1114Gln)
c.2319A>C
c.1274A>C
n.2624A>C
n.351A>C
n.88A>C
n.3447A>C
c.3457A>C (p.Lys1153Gln)
c.3436A>C (p.Lys1146Gln)
c.3418A>C (p.Lys1140Gln)
c.3400A>C (p.Lys1134Gln)
c.3361A>C (p.Lys1121Gln)
c.3322A>C (p.Lys1108Gln)
c.3046A>C (p.Lys1016Gln)
c.3007A>C (p.Lys1003Gln)
c.3397A>C (p.Lys1133Gln)
c.3304A>C (p.Lys1102Gln)
c.2779A>C (p.Lys927Gln)
c.3094A>C (p.Lys1032Gln)
n.7666A>C
 gnomAD v4
3g.9473323A>GCA351685356SETD5n.1753A>G
c.3379A>G (p.Lys1127Glu)
n.3787A>G
n.852A>G
n.4358A>G
n.4714A>G
c.3283A>G (p.Lys1095Glu)
c.*3429A>G (n.*3429A>G)
c.*3352A>G (n.*3352A>G)
c.*3657A>G (n.*3657A>G)
c.*3388A>G (n.*3388A>G)
c.2989A>G (p.Lys997Glu)
c.2285A>G
c.3340A>G (p.Lys1114Glu)
c.2319A>G
c.1274A>G
n.2624A>G
n.351A>G
n.88A>G
n.3447A>G
c.3457A>G (p.Lys1153Glu)
c.3436A>G (p.Lys1146Glu)
c.3418A>G (p.Lys1140Glu)
c.3400A>G (p.Lys1134Glu)
c.3361A>G (p.Lys1121Glu)
c.3322A>G (p.Lys1108Glu)
c.3046A>G (p.Lys1016Glu)
c.3007A>G (p.Lys1003Glu)
c.3397A>G (p.Lys1133Glu)
c.3304A>G (p.Lys1102Glu)
c.2779A>G (p.Lys927Glu)
c.3094A>G (p.Lys1032Glu)
n.7666A>G
3g.9473323A>TCA351685360SETD5n.1753A>T
c.3379A>T (p.Lys1127Ter)
n.3787A>T
n.852A>T
n.4358A>T
n.4714A>T
c.3283A>T (p.Lys1095Ter)
c.*3429A>T (n.*3429A>T)
c.*3352A>T (n.*3352A>T)
c.*3657A>T (n.*3657A>T)
c.*3388A>T (n.*3388A>T)
c.2989A>T (p.Lys997Ter)
c.2285A>T
c.3340A>T (p.Lys1114Ter)
c.2319A>T
c.1274A>T
n.2624A>T
n.351A>T
n.88A>T
n.3447A>T
c.3457A>T (p.Lys1153Ter)
c.3436A>T (p.Lys1146Ter)
c.3418A>T (p.Lys1140Ter)
c.3400A>T (p.Lys1134Ter)
c.3361A>T (p.Lys1121Ter)
c.3322A>T (p.Lys1108Ter)
c.3046A>T (p.Lys1016Ter)
c.3007A>T (p.Lys1003Ter)
c.3397A>T (p.Lys1133Ter)
c.3304A>T (p.Lys1102Ter)
c.2779A>T (p.Lys927Ter)
c.3094A>T (p.Lys1032Ter)
n.7666A>T
3g.9473324A>CCA351685364SETD5n.1754A>C
c.3380A>C (p.Lys1127Thr)
n.3788A>C
n.853A>C
n.4359A>C
n.4715A>C
c.3284A>C (p.Lys1095Thr)
c.*3430A>C (n.*3430A>C)
c.*3353A>C (n.*3353A>C)
c.*3658A>C (n.*3658A>C)
c.*3389A>C (n.*3389A>C)
c.2990A>C (p.Lys997Thr)
c.2286A>C
c.3341A>C (p.Lys1114Thr)
c.2320A>C
c.1275A>C
n.2625A>C
n.352A>C
n.89A>C
n.3448A>C
c.3458A>C (p.Lys1153Thr)
c.3437A>C (p.Lys1146Thr)
c.3419A>C (p.Lys1140Thr)
c.3401A>C (p.Lys1134Thr)
c.3362A>C (p.Lys1121Thr)
c.3323A>C (p.Lys1108Thr)
c.3047A>C (p.Lys1016Thr)
c.3008A>C (p.Lys1003Thr)
c.3398A>C (p.Lys1133Thr)
c.3305A>C (p.Lys1102Thr)
c.2780A>C (p.Lys927Thr)
c.3095A>C (p.Lys1032Thr)
n.7667A>C
3g.9473324A>GCA351685365SETD5n.1754A>G
c.3380A>G (p.Lys1127Arg)
n.3788A>G
n.853A>G
n.4359A>G
n.4715A>G
c.3284A>G (p.Lys1095Arg)
c.*3430A>G (n.*3430A>G)
c.*3353A>G (n.*3353A>G)
c.*3658A>G (n.*3658A>G)
c.*3389A>G (n.*3389A>G)
c.2990A>G (p.Lys997Arg)
c.2286A>G
c.3341A>G (p.Lys1114Arg)
c.2320A>G
c.1275A>G
n.2625A>G
n.352A>G
n.89A>G
n.3448A>G
c.3458A>G (p.Lys1153Arg)
c.3437A>G (p.Lys1146Arg)
c.3419A>G (p.Lys1140Arg)
c.3401A>G (p.Lys1134Arg)
c.3362A>G (p.Lys1121Arg)
c.3323A>G (p.Lys1108Arg)
c.3047A>G (p.Lys1016Arg)
c.3008A>G (p.Lys1003Arg)
c.3398A>G (p.Lys1133Arg)
c.3305A>G (p.Lys1102Arg)
c.2780A>G (p.Lys927Arg)
c.3095A>G (p.Lys1032Arg)
n.7667A>G
3g.9473324A>TCA351685378SETD5n.1754A>T
c.3380A>T (p.Lys1127Met)
n.3788A>T
n.853A>T
n.4359A>T
n.4715A>T
c.3284A>T (p.Lys1095Met)
c.*3430A>T (n.*3430A>T)
c.*3353A>T (n.*3353A>T)
c.*3658A>T (n.*3658A>T)
c.*3389A>T (n.*3389A>T)
c.2990A>T (p.Lys997Met)
c.2286A>T
c.3341A>T (p.Lys1114Met)
c.2320A>T
c.1275A>T
n.2625A>T
n.352A>T
n.89A>T
n.3448A>T
c.3458A>T (p.Lys1153Met)
c.3437A>T (p.Lys1146Met)
c.3419A>T (p.Lys1140Met)
c.3401A>T (p.Lys1134Met)
c.3362A>T (p.Lys1121Met)
c.3323A>T (p.Lys1108Met)
c.3047A>T (p.Lys1016Met)
c.3008A>T (p.Lys1003Met)
c.3398A>T (p.Lys1133Met)
c.3305A>T (p.Lys1102Met)
c.2780A>T (p.Lys927Met)
c.3095A>T (p.Lys1032Met)
n.7667A>T
3g.9473325G>ACA432365756SETD5n.1755G>A
c.3381G>A (p.Lys1127=)
n.3789G>A
n.854G>A
n.4360G>A
n.4716G>A
c.3285G>A (p.Lys1095=)
c.*3431G>A (n.*3431G>A)
c.*3354G>A (n.*3354G>A)
c.*3659G>A (n.*3659G>A)
c.*3390G>A (n.*3390G>A)
c.2991G>A (p.Lys997=)
c.2287G>A
c.3342G>A (p.Lys1114=)
c.2321G>A
c.1276G>A
n.2626G>A
n.353G>A
n.90G>A
n.3449G>A
c.3459G>A (p.Lys1153=)
c.3438G>A (p.Lys1146=)
c.3420G>A (p.Lys1140=)
c.3402G>A (p.Lys1134=)
c.3363G>A (p.Lys1121=)
c.3324G>A (p.Lys1108=)
c.3048G>A (p.Lys1016=)
c.3009G>A (p.Lys1003=)
c.3399G>A (p.Lys1133=)
c.3306G>A (p.Lys1102=)
c.2781G>A (p.Lys927=)
c.3096G>A (p.Lys1032=)
n.7668G>A
 gnomAD v4
3g.9473325G>CCA351685383SETD5n.1755G>C
c.3381G>C (p.Lys1127Asn)
n.3789G>C
n.854G>C
n.4360G>C
n.4716G>C
c.3285G>C (p.Lys1095Asn)
c.*3431G>C (n.*3431G>C)
c.*3354G>C (n.*3354G>C)
c.*3659G>C (n.*3659G>C)
c.*3390G>C (n.*3390G>C)
c.2991G>C (p.Lys997Asn)
c.2287G>C
c.3342G>C (p.Lys1114Asn)
c.2321G>C
c.1276G>C
n.2626G>C
n.353G>C
n.90G>C
n.3449G>C
c.3459G>C (p.Lys1153Asn)
c.3438G>C (p.Lys1146Asn)
c.3420G>C (p.Lys1140Asn)
c.3402G>C (p.Lys1134Asn)
c.3363G>C (p.Lys1121Asn)
c.3324G>C (p.Lys1108Asn)
c.3048G>C (p.Lys1016Asn)
c.3009G>C (p.Lys1003Asn)
c.3399G>C (p.Lys1133Asn)
c.3306G>C (p.Lys1102Asn)
c.2781G>C (p.Lys927Asn)
c.3096G>C (p.Lys1032Asn)
n.7668G>C
3g.9473325G>TCA351685386SETD5n.1755G>T
c.3381G>T (p.Lys1127Asn)
n.3789G>T
n.854G>T
n.4360G>T
n.4716G>T
c.3285G>T (p.Lys1095Asn)
c.*3431G>T (n.*3431G>T)
c.*3354G>T (n.*3354G>T)
c.*3659G>T (n.*3659G>T)
c.*3390G>T (n.*3390G>T)
c.2991G>T (p.Lys997Asn)
c.2287G>T
c.3342G>T (p.Lys1114Asn)
c.2321G>T
c.1276G>T
n.2626G>T
n.353G>T
n.90G>T
n.3449G>T
c.3459G>T (p.Lys1153Asn)
c.3438G>T (p.Lys1146Asn)
c.3420G>T (p.Lys1140Asn)
c.3402G>T (p.Lys1134Asn)
c.3363G>T (p.Lys1121Asn)
c.3324G>T (p.Lys1108Asn)
c.3048G>T (p.Lys1016Asn)
c.3009G>T (p.Lys1003Asn)
c.3399G>T (p.Lys1133Asn)
c.3306G>T (p.Lys1102Asn)
c.2781G>T (p.Lys927Asn)
c.3096G>T (p.Lys1032Asn)
n.7668G>T
3g.9473326T>ACA2239655SETD5n.1756T>A
c.3382T>A (p.Ser1128Thr)
n.3790T>A
n.855T>A
n.4361T>A
n.4717T>A
c.3286T>A (p.Ser1096Thr)
c.*3432T>A (n.*3432T>A)
c.*3355T>A (n.*3355T>A)
c.*3660T>A (n.*3660T>A)
c.*3391T>A (n.*3391T>A)
c.2992T>A (p.Ser998Thr)
c.2288T>A
c.3343T>A (p.Ser1115Thr)
c.2322T>A
c.1277T>A
n.2627T>A
n.354T>A
n.91T>A
n.3450T>A
c.3460T>A (p.Ser1154Thr)
c.3439T>A (p.Ser1147Thr)
c.3421T>A (p.Ser1141Thr)
c.3403T>A (p.Ser1135Thr)
c.3364T>A (p.Ser1122Thr)
c.3325T>A (p.Ser1109Thr)
c.3049T>A (p.Ser1017Thr)
c.3010T>A (p.Ser1004Thr)
c.3400T>A (p.Ser1134Thr)
c.3307T>A (p.Ser1103Thr)
c.2782T>A (p.Ser928Thr)
c.3097T>A (p.Ser1033Thr)
n.7669T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9473326T>CCA351685390SETD5n.1756T>C
c.3382T>C (p.Ser1128Pro)
n.3790T>C
n.855T>C
n.4361T>C
n.4717T>C
c.3286T>C (p.Ser1096Pro)
c.*3432T>C (n.*3432T>C)
c.*3355T>C (n.*3355T>C)
c.*3660T>C (n.*3660T>C)
c.*3391T>C (n.*3391T>C)
c.2992T>C (p.Ser998Pro)
c.2288T>C
c.3343T>C (p.Ser1115Pro)
c.2322T>C
c.1277T>C
n.2627T>C
n.354T>C
n.91T>C
n.3450T>C
c.3460T>C (p.Ser1154Pro)
c.3439T>C (p.Ser1147Pro)
c.3421T>C (p.Ser1141Pro)
c.3403T>C (p.Ser1135Pro)
c.3364T>C (p.Ser1122Pro)
c.3325T>C (p.Ser1109Pro)
c.3049T>C (p.Ser1017Pro)
c.3010T>C (p.Ser1004Pro)
c.3400T>C (p.Ser1134Pro)
c.3307T>C (p.Ser1103Pro)
c.2782T>C (p.Ser928Pro)
c.3097T>C (p.Ser1033Pro)
n.7669T>C
 dbSNP gnomAD v3 gnomAD v4
3g.9473326T>GCA351685394SETD5n.1756T>G
c.3382T>G (p.Ser1128Ala)
n.3790T>G
n.855T>G
n.4361T>G
n.4717T>G
c.3286T>G (p.Ser1096Ala)
c.*3432T>G (n.*3432T>G)
c.*3355T>G (n.*3355T>G)
c.*3660T>G (n.*3660T>G)
c.*3391T>G (n.*3391T>G)
c.2992T>G (p.Ser998Ala)
c.2288T>G
c.3343T>G (p.Ser1115Ala)
c.2322T>G
c.1277T>G
n.2627T>G
n.354T>G
n.91T>G
n.3450T>G
c.3460T>G (p.Ser1154Ala)
c.3439T>G (p.Ser1147Ala)
c.3421T>G (p.Ser1141Ala)
c.3403T>G (p.Ser1135Ala)
c.3364T>G (p.Ser1122Ala)
c.3325T>G (p.Ser1109Ala)
c.3049T>G (p.Ser1017Ala)
c.3010T>G (p.Ser1004Ala)
c.3400T>G (p.Ser1134Ala)
c.3307T>G (p.Ser1103Ala)
c.2782T>G (p.Ser928Ala)
c.3097T>G (p.Ser1033Ala)
n.7669T>G
3g.9473326T=CA1344740142SETD5n.1756T=
c.3382T= (p.Ser1128=)
n.3790T=
n.855T=
n.4361T=
n.4717T=
c.3286T= (p.Ser1096=)
c.*3432T= (n.*3432T=)
c.*3355T= (n.*3355T=)
c.*3660T= (n.*3660T=)
c.*3391T= (n.*3391T=)
c.2992T= (p.Ser998=)
c.2288T=
c.3343T= (p.Ser1115=)
c.2322T=
c.1277T=
n.2627T=
n.354T=
n.91T=
n.3450T=
c.3460T= (p.Ser1154=)
c.3439T= (p.Ser1147=)
c.3421T= (p.Ser1141=)
c.3403T= (p.Ser1135=)
c.3364T= (p.Ser1122=)
c.3325T= (p.Ser1109=)
c.3049T= (p.Ser1017=)
c.3010T= (p.Ser1004=)
c.3400T= (p.Ser1134=)
c.3307T= (p.Ser1103=)
c.2782T= (p.Ser928=)
c.3097T= (p.Ser1033=)
n.7669T=
3g.9473327C>ACA351685409SETD5n.1757C>A
c.3383C>A (p.Ser1128Tyr)
n.3791C>A
n.856C>A
n.4362C>A
n.4718C>A
c.3287C>A (p.Ser1096Tyr)
c.*3433C>A (n.*3433C>A)
c.*3356C>A (n.*3356C>A)
c.*3661C>A (n.*3661C>A)
c.*3392C>A (n.*3392C>A)
c.2993C>A (p.Ser998Tyr)
c.2289C>A
c.3344C>A (p.Ser1115Tyr)
c.2323C>A
c.1278C>A
n.2628C>A
n.355C>A
n.92C>A
n.3451C>A
c.3461C>A (p.Ser1154Tyr)
c.3440C>A (p.Ser1147Tyr)
c.3422C>A (p.Ser1141Tyr)
c.3404C>A (p.Ser1135Tyr)
c.3365C>A (p.Ser1122Tyr)
c.3326C>A (p.Ser1109Tyr)
c.3050C>A (p.Ser1017Tyr)
c.3011C>A (p.Ser1004Tyr)
c.3401C>A (p.Ser1134Tyr)
c.3308C>A (p.Ser1103Tyr)
c.2783C>A (p.Ser928Tyr)
c.3098C>A (p.Ser1033Tyr)
n.7670C>A
3g.9473327C>GCA351685403SETD5n.1757C>G
c.3383C>G (p.Ser1128Cys)
n.3791C>G
n.856C>G
n.4362C>G
n.4718C>G
c.3287C>G (p.Ser1096Cys)
c.*3433C>G (n.*3433C>G)
c.*3356C>G (n.*3356C>G)
c.*3661C>G (n.*3661C>G)
c.*3392C>G (n.*3392C>G)
c.2993C>G (p.Ser998Cys)
c.2289C>G
c.3344C>G (p.Ser1115Cys)
c.2323C>G
c.1278C>G
n.2628C>G
n.355C>G
n.92C>G
n.3451C>G
c.3461C>G (p.Ser1154Cys)
c.3440C>G (p.Ser1147Cys)
c.3422C>G (p.Ser1141Cys)
c.3404C>G (p.Ser1135Cys)
c.3365C>G (p.Ser1122Cys)
c.3326C>G (p.Ser1109Cys)
c.3050C>G (p.Ser1017Cys)
c.3011C>G (p.Ser1004Cys)
c.3401C>G (p.Ser1134Cys)
c.3308C>G (p.Ser1103Cys)
c.2783C>G (p.Ser928Cys)
c.3098C>G (p.Ser1033Cys)
n.7670C>G
 gnomAD v4
3g.9473327C>TCA351685398SETD5n.1757C>T
c.3383C>T (p.Ser1128Phe)
n.3791C>T
n.856C>T
n.4362C>T
n.4718C>T
c.3287C>T (p.Ser1096Phe)
c.*3433C>T (n.*3433C>T)
c.*3356C>T (n.*3356C>T)
c.*3661C>T (n.*3661C>T)
c.*3392C>T (n.*3392C>T)
c.2993C>T (p.Ser998Phe)
c.2289C>T
c.3344C>T (p.Ser1115Phe)
c.2323C>T
c.1278C>T
n.2628C>T
n.355C>T
n.92C>T
n.3451C>T
c.3461C>T (p.Ser1154Phe)
c.3440C>T (p.Ser1147Phe)
c.3422C>T (p.Ser1141Phe)
c.3404C>T (p.Ser1135Phe)
c.3365C>T (p.Ser1122Phe)
c.3326C>T (p.Ser1109Phe)
c.3050C>T (p.Ser1017Phe)
c.3011C>T (p.Ser1004Phe)
c.3401C>T (p.Ser1134Phe)
c.3308C>T (p.Ser1103Phe)
c.2783C>T (p.Ser928Phe)
c.3098C>T (p.Ser1033Phe)
n.7670C>T
3g.9473328T>ACA432365757SETD5n.1758T>A
c.3384T>A (p.Ser1128=)
n.3792T>A
n.857T>A
n.4363T>A
n.4719T>A
c.3288T>A (p.Ser1096=)
c.*3434T>A (n.*3434T>A)
c.*3357T>A (n.*3357T>A)
c.*3662T>A (n.*3662T>A)
c.*3393T>A (n.*3393T>A)
c.2994T>A (p.Ser998=)
c.2290T>A
c.3345T>A (p.Ser1115=)
c.2324T>A
c.1279T>A
n.2629T>A
n.356T>A
n.93T>A
n.3452T>A
c.3462T>A (p.Ser1154=)
c.3441T>A (p.Ser1147=)
c.3423T>A (p.Ser1141=)
c.3405T>A (p.Ser1135=)
c.3366T>A (p.Ser1122=)
c.3327T>A (p.Ser1109=)
c.3051T>A (p.Ser1017=)
c.3012T>A (p.Ser1004=)
c.3402T>A (p.Ser1134=)
c.3309T>A (p.Ser1103=)
c.2784T>A (p.Ser928=)
c.3099T>A (p.Ser1033=)
n.7671T>A
3g.9473328T>CCA432365758SETD5n.1758T>C
c.3384T>C (p.Ser1128=)
n.3792T>C
n.857T>C
n.4363T>C
n.4719T>C
c.3288T>C (p.Ser1096=)
c.*3434T>C (n.*3434T>C)
c.*3357T>C (n.*3357T>C)
c.*3662T>C (n.*3662T>C)
c.*3393T>C (n.*3393T>C)
c.2994T>C (p.Ser998=)
c.2290T>C
c.3345T>C (p.Ser1115=)
c.2324T>C
c.1279T>C
n.2629T>C
n.356T>C
n.93T>C
n.3452T>C
c.3462T>C (p.Ser1154=)
c.3441T>C (p.Ser1147=)
c.3423T>C (p.Ser1141=)
c.3405T>C (p.Ser1135=)
c.3366T>C (p.Ser1122=)
c.3327T>C (p.Ser1109=)
c.3051T>C (p.Ser1017=)
c.3012T>C (p.Ser1004=)
c.3402T>C (p.Ser1134=)
c.3309T>C (p.Ser1103=)
c.2784T>C (p.Ser928=)
c.3099T>C (p.Ser1033=)
n.7671T>C
3g.9473328T>GCA432365759SETD5n.1758T>G
c.3384T>G (p.Ser1128=)
n.3792T>G
n.857T>G
n.4363T>G
n.4719T>G
c.3288T>G (p.Ser1096=)
c.*3434T>G (n.*3434T>G)
c.*3357T>G (n.*3357T>G)
c.*3662T>G (n.*3662T>G)
c.*3393T>G (n.*3393T>G)
c.2994T>G (p.Ser998=)
c.2290T>G
c.3345T>G (p.Ser1115=)
c.2324T>G
c.1279T>G
n.2629T>G
n.356T>G
n.93T>G
n.3452T>G
c.3462T>G (p.Ser1154=)
c.3441T>G (p.Ser1147=)
c.3423T>G (p.Ser1141=)
c.3405T>G (p.Ser1135=)
c.3366T>G (p.Ser1122=)
c.3327T>G (p.Ser1109=)
c.3051T>G (p.Ser1017=)
c.3012T>G (p.Ser1004=)
c.3402T>G (p.Ser1134=)
c.3309T>G (p.Ser1103=)
c.2784T>G (p.Ser928=)
c.3099T>G (p.Ser1033=)
n.7671T>G
3g.9473329G>ACA351685412SETD5n.1759G>A
c.3385G>A (p.Ala1129Thr)
n.3793G>A
n.858G>A
n.4364G>A
n.4720G>A
c.3289G>A (p.Ala1097Thr)
c.*3435G>A (n.*3435G>A)
c.*3358G>A (n.*3358G>A)
c.*3663G>A (n.*3663G>A)
c.*3394G>A (n.*3394G>A)
c.2995G>A (p.Ala999Thr)
c.2291G>A
c.3346G>A (p.Ala1116Thr)
c.2325G>A
c.1280G>A
n.2630G>A
n.357G>A
n.94G>A
n.3453G>A
c.3463G>A (p.Ala1155Thr)
c.3442G>A (p.Ala1148Thr)
c.3424G>A (p.Ala1142Thr)
c.3406G>A (p.Ala1136Thr)
c.3367G>A (p.Ala1123Thr)
c.3328G>A (p.Ala1110Thr)
c.3052G>A (p.Ala1018Thr)
c.3013G>A (p.Ala1005Thr)
c.3403G>A (p.Ala1135Thr)
c.3310G>A (p.Ala1104Thr)
c.2785G>A (p.Ala929Thr)
c.3100G>A (p.Ala1034Thr)
n.7672G>A
 gnomAD v4
3g.9473329G>CCA351685416SETD5n.1759G>C
c.3385G>C (p.Ala1129Pro)
n.3793G>C
n.858G>C
n.4364G>C
n.4720G>C
c.3289G>C (p.Ala1097Pro)
c.*3435G>C (n.*3435G>C)
c.*3358G>C (n.*3358G>C)
c.*3663G>C (n.*3663G>C)
c.*3394G>C (n.*3394G>C)
c.2995G>C (p.Ala999Pro)
c.2291G>C
c.3346G>C (p.Ala1116Pro)
c.2325G>C
c.1280G>C
n.2630G>C
n.357G>C
n.94G>C
n.3453G>C
c.3463G>C (p.Ala1155Pro)
c.3442G>C (p.Ala1148Pro)
c.3424G>C (p.Ala1142Pro)
c.3406G>C (p.Ala1136Pro)
c.3367G>C (p.Ala1123Pro)
c.3328G>C (p.Ala1110Pro)
c.3052G>C (p.Ala1018Pro)
c.3013G>C (p.Ala1005Pro)
c.3403G>C (p.Ala1135Pro)
c.3310G>C (p.Ala1104Pro)
c.2785G>C (p.Ala929Pro)
c.3100G>C (p.Ala1034Pro)
n.7672G>C
3g.9473329G>TCA351685419SETD5n.1759G>T
c.3385G>T (p.Ala1129Ser)
n.3793G>T
n.858G>T
n.4364G>T
n.4720G>T
c.3289G>T (p.Ala1097Ser)
c.*3435G>T (n.*3435G>T)
c.*3358G>T (n.*3358G>T)
c.*3663G>T (n.*3663G>T)
c.*3394G>T (n.*3394G>T)
c.2995G>T (p.Ala999Ser)
c.2291G>T
c.3346G>T (p.Ala1116Ser)
c.2325G>T
c.1280G>T
n.2630G>T
n.357G>T
n.94G>T
n.3453G>T
c.3463G>T (p.Ala1155Ser)
c.3442G>T (p.Ala1148Ser)
c.3424G>T (p.Ala1142Ser)
c.3406G>T (p.Ala1136Ser)
c.3367G>T (p.Ala1123Ser)
c.3328G>T (p.Ala1110Ser)
c.3052G>T (p.Ala1018Ser)
c.3013G>T (p.Ala1005Ser)
c.3403G>T (p.Ala1135Ser)
c.3310G>T (p.Ala1104Ser)
c.2785G>T (p.Ala929Ser)
c.3100G>T (p.Ala1034Ser)
n.7672G>T
 gnomAD v4
3g.9473330C>ACA351685423SETD5n.1760C>A
c.3386C>A (p.Ala1129Glu)
n.3794C>A
n.859C>A
n.4365C>A
n.4721C>A
c.3290C>A (p.Ala1097Glu)
c.*3436C>A (n.*3436C>A)
c.*3359C>A (n.*3359C>A)
c.*3664C>A (n.*3664C>A)
c.*3395C>A (n.*3395C>A)
c.2996C>A (p.Ala999Glu)
c.2292C>A
c.3347C>A (p.Ala1116Glu)
c.2326C>A
c.1281C>A
n.2631C>A
n.358C>A
n.95C>A
n.3454C>A
c.3464C>A (p.Ala1155Glu)
c.3443C>A (p.Ala1148Glu)
c.3425C>A (p.Ala1142Glu)
c.3407C>A (p.Ala1136Glu)
c.3368C>A (p.Ala1123Glu)
c.3329C>A (p.Ala1110Glu)
c.3053C>A (p.Ala1018Glu)
c.3014C>A (p.Ala1005Glu)
c.3404C>A (p.Ala1135Glu)
c.3311C>A (p.Ala1104Glu)
c.2786C>A (p.Ala929Glu)
c.3101C>A (p.Ala1034Glu)
n.7673C>A
3g.9473330C>GCA351685424SETD5n.1760C>G
c.3386C>G (p.Ala1129Gly)
n.3794C>G
n.859C>G
n.4365C>G
n.4721C>G
c.3290C>G (p.Ala1097Gly)
c.*3436C>G (n.*3436C>G)
c.*3359C>G (n.*3359C>G)
c.*3664C>G (n.*3664C>G)
c.*3395C>G (n.*3395C>G)
c.2996C>G (p.Ala999Gly)
c.2292C>G
c.3347C>G (p.Ala1116Gly)
c.2326C>G
c.1281C>G
n.2631C>G
n.358C>G
n.95C>G
n.3454C>G
c.3464C>G (p.Ala1155Gly)
c.3443C>G (p.Ala1148Gly)
c.3425C>G (p.Ala1142Gly)
c.3407C>G (p.Ala1136Gly)
c.3368C>G (p.Ala1123Gly)
c.3329C>G (p.Ala1110Gly)
c.3053C>G (p.Ala1018Gly)
c.3014C>G (p.Ala1005Gly)
c.3404C>G (p.Ala1135Gly)
c.3311C>G (p.Ala1104Gly)
c.2786C>G (p.Ala929Gly)
c.3101C>G (p.Ala1034Gly)
n.7673C>G
 gnomAD v4
3g.9473330C>TCA351685428SETD5n.1760C>T
c.3386C>T (p.Ala1129Val)
n.3794C>T
n.859C>T
n.4365C>T
n.4721C>T
c.3290C>T (p.Ala1097Val)
c.*3436C>T (n.*3436C>T)
c.*3359C>T (n.*3359C>T)
c.*3664C>T (n.*3664C>T)
c.*3395C>T (n.*3395C>T)
c.2996C>T (p.Ala999Val)
c.2292C>T
c.3347C>T (p.Ala1116Val)
c.2326C>T
c.1281C>T
n.2631C>T
n.358C>T
n.95C>T
n.3454C>T
c.3464C>T (p.Ala1155Val)
c.3443C>T (p.Ala1148Val)
c.3425C>T (p.Ala1142Val)
c.3407C>T (p.Ala1136Val)
c.3368C>T (p.Ala1123Val)
c.3329C>T (p.Ala1110Val)
c.3053C>T (p.Ala1018Val)
c.3014C>T (p.Ala1005Val)
c.3404C>T (p.Ala1135Val)
c.3311C>T (p.Ala1104Val)
c.2786C>T (p.Ala929Val)
c.3101C>T (p.Ala1034Val)
n.7673C>T
 gnomAD v4

Number of alleles fetched