Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.137818396A= | CA1884688515 | EHMT1 | c.3540+258A= (n.3540+258A=) n.26+258A= c.3447+258A= (n.3447+258A=) c.4114+258A= (n.4114+258A=) n.521+258A= c.1614+258A= (n.1614+258A=) c.2397+258A= (n.2397+258A=) n.1264+258A= n.893+258A= c.3531+258A= (n.3531+258A=) c.3522+258A= (n.3522+258A=) c.3549+258A= (n.3549+258A=) c.3546+258A= (n.3546+258A=) c.3528+258A= (n.3528+258A=) c.3471+258A= (n.3471+258A=) c.3405+258A= (n.3405+258A=) c.1971+258A= (n.1971+258A=) c.1323+258A= (n.1323+258A=) c.1110+258A= (n.1110+258A=) c.3384+258A= (n.3384+258A=) n.5297-3834T= c.3519+258A= (n.3519+258A=) c.3525+258A= (n.3525+258A=) c.3441+258A= (n.3441+258A=) c.3426+258A= (n.3426+258A=) c.3369+258A= (n.3369+258A=) c.3303+258A= (n.3303+258A=) c.2664+258A= (n.2664+258A=) c.3282+258A= (n.3282+258A=) | |
9 | g.137818396A>C | CA1884688516 | EHMT1 | c.3540+258A>C (n.3540+258A>C) n.26+258A>C c.3447+258A>C (n.3447+258A>C) c.4114+258A>C (n.4114+258A>C) n.521+258A>C c.1614+258A>C (n.1614+258A>C) c.2397+258A>C (n.2397+258A>C) n.1264+258A>C n.893+258A>C c.3531+258A>C (n.3531+258A>C) c.3522+258A>C (n.3522+258A>C) c.3549+258A>C (n.3549+258A>C) c.3546+258A>C (n.3546+258A>C) c.3528+258A>C (n.3528+258A>C) c.3471+258A>C (n.3471+258A>C) c.3405+258A>C (n.3405+258A>C) c.1971+258A>C (n.1971+258A>C) c.1323+258A>C (n.1323+258A>C) c.1110+258A>C (n.1110+258A>C) c.3384+258A>C (n.3384+258A>C) n.5297-3834T>G c.3519+258A>C (n.3519+258A>C) c.3525+258A>C (n.3525+258A>C) c.3441+258A>C (n.3441+258A>C) c.3426+258A>C (n.3426+258A>C) c.3369+258A>C (n.3369+258A>C) c.3303+258A>C (n.3303+258A>C) c.2664+258A>C (n.2664+258A>C) c.3282+258A>C (n.3282+258A>C) | dbSNP |
9 | g.137818397C>A | CA2786319786 | EHMT1 | c.3540+259C>A (n.3540+259C>A) n.26+259C>A c.3447+259C>A (n.3447+259C>A) c.4114+259C>A (n.4114+259C>A) n.521+259C>A c.1614+259C>A (n.1614+259C>A) c.2397+259C>A (n.2397+259C>A) n.1264+259C>A n.893+259C>A c.3531+259C>A (n.3531+259C>A) c.3522+259C>A (n.3522+259C>A) c.3549+259C>A (n.3549+259C>A) c.3546+259C>A (n.3546+259C>A) c.3528+259C>A (n.3528+259C>A) c.3471+259C>A (n.3471+259C>A) c.3405+259C>A (n.3405+259C>A) c.1971+259C>A (n.1971+259C>A) c.1323+259C>A (n.1323+259C>A) c.1110+259C>A (n.1110+259C>A) c.3384+259C>A (n.3384+259C>A) n.5297-3835G>T c.3519+259C>A (n.3519+259C>A) c.3525+259C>A (n.3525+259C>A) c.3441+259C>A (n.3441+259C>A) c.3426+259C>A (n.3426+259C>A) c.3369+259C>A (n.3369+259C>A) c.3303+259C>A (n.3303+259C>A) c.2664+259C>A (n.2664+259C>A) c.3282+259C>A (n.3282+259C>A) | |
9 | g.137818398C= | CA1884688517 | EHMT1 | c.3540+260C= (n.3540+260C=) n.26+260C= c.3447+260C= (n.3447+260C=) c.4114+260C= (n.4114+260C=) n.521+260C= c.1614+260C= (n.1614+260C=) c.2397+260C= (n.2397+260C=) n.1264+260C= n.893+260C= c.3531+260C= (n.3531+260C=) c.3522+260C= (n.3522+260C=) c.3549+260C= (n.3549+260C=) c.3546+260C= (n.3546+260C=) c.3528+260C= (n.3528+260C=) c.3471+260C= (n.3471+260C=) c.3405+260C= (n.3405+260C=) c.1971+260C= (n.1971+260C=) c.1323+260C= (n.1323+260C=) c.1110+260C= (n.1110+260C=) c.3384+260C= (n.3384+260C=) n.5297-3836G= c.3519+260C= (n.3519+260C=) c.3525+260C= (n.3525+260C=) c.3441+260C= (n.3441+260C=) c.3426+260C= (n.3426+260C=) c.3369+260C= (n.3369+260C=) c.3303+260C= (n.3303+260C=) c.2664+260C= (n.2664+260C=) c.3282+260C= (n.3282+260C=) | |
9 | g.137818398C>T | CA861206417 | EHMT1 | c.3540+260C>T (n.3540+260C>T) n.26+260C>T c.3447+260C>T (n.3447+260C>T) c.4114+260C>T (n.4114+260C>T) n.521+260C>T c.1614+260C>T (n.1614+260C>T) c.2397+260C>T (n.2397+260C>T) n.1264+260C>T n.893+260C>T c.3531+260C>T (n.3531+260C>T) c.3522+260C>T (n.3522+260C>T) c.3549+260C>T (n.3549+260C>T) c.3546+260C>T (n.3546+260C>T) c.3528+260C>T (n.3528+260C>T) c.3471+260C>T (n.3471+260C>T) c.3405+260C>T (n.3405+260C>T) c.1971+260C>T (n.1971+260C>T) c.1323+260C>T (n.1323+260C>T) c.1110+260C>T (n.1110+260C>T) c.3384+260C>T (n.3384+260C>T) n.5297-3836G>A c.3519+260C>T (n.3519+260C>T) c.3525+260C>T (n.3525+260C>T) c.3441+260C>T (n.3441+260C>T) c.3426+260C>T (n.3426+260C>T) c.3369+260C>T (n.3369+260C>T) c.3303+260C>T (n.3303+260C>T) c.2664+260C>T (n.2664+260C>T) c.3282+260C>T (n.3282+260C>T) | dbSNP |
9 | g.137818399C= | CA1884688518 | EHMT1 | c.3540+261C= (n.3540+261C=) n.26+261C= c.3447+261C= (n.3447+261C=) c.4114+261C= (n.4114+261C=) n.521+261C= c.1614+261C= (n.1614+261C=) c.2397+261C= (n.2397+261C=) n.1264+261C= n.893+261C= c.3531+261C= (n.3531+261C=) c.3522+261C= (n.3522+261C=) c.3549+261C= (n.3549+261C=) c.3546+261C= (n.3546+261C=) c.3528+261C= (n.3528+261C=) c.3471+261C= (n.3471+261C=) c.3405+261C= (n.3405+261C=) c.1971+261C= (n.1971+261C=) c.1323+261C= (n.1323+261C=) c.1110+261C= (n.1110+261C=) c.3384+261C= (n.3384+261C=) n.5297-3837G= c.3519+261C= (n.3519+261C=) c.3525+261C= (n.3525+261C=) c.3441+261C= (n.3441+261C=) c.3426+261C= (n.3426+261C=) c.3369+261C= (n.3369+261C=) c.3303+261C= (n.3303+261C=) c.2664+261C= (n.2664+261C=) c.3282+261C= (n.3282+261C=) | |
9 | g.137818399C>T | CA201800567 | EHMT1 | c.3540+261C>T (n.3540+261C>T) n.26+261C>T c.3447+261C>T (n.3447+261C>T) c.4114+261C>T (n.4114+261C>T) n.521+261C>T c.1614+261C>T (n.1614+261C>T) c.2397+261C>T (n.2397+261C>T) n.1264+261C>T n.893+261C>T c.3531+261C>T (n.3531+261C>T) c.3522+261C>T (n.3522+261C>T) c.3549+261C>T (n.3549+261C>T) c.3546+261C>T (n.3546+261C>T) c.3528+261C>T (n.3528+261C>T) c.3471+261C>T (n.3471+261C>T) c.3405+261C>T (n.3405+261C>T) c.1971+261C>T (n.1971+261C>T) c.1323+261C>T (n.1323+261C>T) c.1110+261C>T (n.1110+261C>T) c.3384+261C>T (n.3384+261C>T) n.5297-3837G>A c.3519+261C>T (n.3519+261C>T) c.3525+261C>T (n.3525+261C>T) c.3441+261C>T (n.3441+261C>T) c.3426+261C>T (n.3426+261C>T) c.3369+261C>T (n.3369+261C>T) c.3303+261C>T (n.3303+261C>T) c.2664+261C>T (n.2664+261C>T) c.3282+261C>T (n.3282+261C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818403A>G | CA2543044085 | EHMT1 | c.3540+265A>G (n.3540+265A>G) n.26+265A>G c.3447+265A>G (n.3447+265A>G) c.4114+265A>G (n.4114+265A>G) n.521+265A>G c.1614+265A>G (n.1614+265A>G) c.2397+265A>G (n.2397+265A>G) n.1264+265A>G n.893+265A>G c.3531+265A>G (n.3531+265A>G) c.3522+265A>G (n.3522+265A>G) c.3549+265A>G (n.3549+265A>G) c.3546+265A>G (n.3546+265A>G) c.3528+265A>G (n.3528+265A>G) c.3471+265A>G (n.3471+265A>G) c.3405+265A>G (n.3405+265A>G) c.1971+265A>G (n.1971+265A>G) c.1323+265A>G (n.1323+265A>G) c.1110+265A>G (n.1110+265A>G) c.3384+265A>G (n.3384+265A>G) n.5297-3841T>C c.3519+265A>G (n.3519+265A>G) c.3525+265A>G (n.3525+265A>G) c.3441+265A>G (n.3441+265A>G) c.3426+265A>G (n.3426+265A>G) c.3369+265A>G (n.3369+265A>G) c.3303+265A>G (n.3303+265A>G) c.2664+265A>G (n.2664+265A>G) c.3282+265A>G (n.3282+265A>G) | |
9 | g.137818405T>G | CA201800568 | EHMT1 | c.3540+267T>G (n.3540+267T>G) n.26+267T>G c.3447+267T>G (n.3447+267T>G) c.4114+267T>G (n.4114+267T>G) n.521+267T>G c.1614+267T>G (n.1614+267T>G) c.2397+267T>G (n.2397+267T>G) n.1264+267T>G n.893+267T>G c.3531+267T>G (n.3531+267T>G) c.3522+267T>G (n.3522+267T>G) c.3549+267T>G (n.3549+267T>G) c.3546+267T>G (n.3546+267T>G) c.3528+267T>G (n.3528+267T>G) c.3471+267T>G (n.3471+267T>G) c.3405+267T>G (n.3405+267T>G) c.1971+267T>G (n.1971+267T>G) c.1323+267T>G (n.1323+267T>G) c.1110+267T>G (n.1110+267T>G) c.3384+267T>G (n.3384+267T>G) n.5297-3843A>C c.3519+267T>G (n.3519+267T>G) c.3525+267T>G (n.3525+267T>G) c.3441+267T>G (n.3441+267T>G) c.3426+267T>G (n.3426+267T>G) c.3369+267T>G (n.3369+267T>G) c.3303+267T>G (n.3303+267T>G) c.2664+267T>G (n.2664+267T>G) c.3282+267T>G (n.3282+267T>G) | dbSNP |
9 | g.137818405T= | CA1884688519 | EHMT1 | c.3540+267T= (n.3540+267T=) n.26+267T= c.3447+267T= (n.3447+267T=) c.4114+267T= (n.4114+267T=) n.521+267T= c.1614+267T= (n.1614+267T=) c.2397+267T= (n.2397+267T=) n.1264+267T= n.893+267T= c.3531+267T= (n.3531+267T=) c.3522+267T= (n.3522+267T=) c.3549+267T= (n.3549+267T=) c.3546+267T= (n.3546+267T=) c.3528+267T= (n.3528+267T=) c.3471+267T= (n.3471+267T=) c.3405+267T= (n.3405+267T=) c.1971+267T= (n.1971+267T=) c.1323+267T= (n.1323+267T=) c.1110+267T= (n.1110+267T=) c.3384+267T= (n.3384+267T=) n.5297-3843A= c.3519+267T= (n.3519+267T=) c.3525+267T= (n.3525+267T=) c.3441+267T= (n.3441+267T=) c.3426+267T= (n.3426+267T=) c.3369+267T= (n.3369+267T=) c.3303+267T= (n.3303+267T=) c.2664+267T= (n.2664+267T=) c.3282+267T= (n.3282+267T=) | |
9 | g.137818406C>A | CA1884688521 | EHMT1 | c.3540+268C>A (n.3540+268C>A) n.26+268C>A c.3447+268C>A (n.3447+268C>A) c.4114+268C>A (n.4114+268C>A) n.521+268C>A c.1614+268C>A (n.1614+268C>A) c.2397+268C>A (n.2397+268C>A) n.1264+268C>A n.893+268C>A c.3531+268C>A (n.3531+268C>A) c.3522+268C>A (n.3522+268C>A) c.3549+268C>A (n.3549+268C>A) c.3546+268C>A (n.3546+268C>A) c.3528+268C>A (n.3528+268C>A) c.3471+268C>A (n.3471+268C>A) c.3405+268C>A (n.3405+268C>A) c.1971+268C>A (n.1971+268C>A) c.1323+268C>A (n.1323+268C>A) c.1110+268C>A (n.1110+268C>A) c.3384+268C>A (n.3384+268C>A) n.5297-3844G>T c.3519+268C>A (n.3519+268C>A) c.3525+268C>A (n.3525+268C>A) c.3441+268C>A (n.3441+268C>A) c.3426+268C>A (n.3426+268C>A) c.3369+268C>A (n.3369+268C>A) c.3303+268C>A (n.3303+268C>A) c.2664+268C>A (n.2664+268C>A) c.3282+268C>A (n.3282+268C>A) | dbSNP |
9 | g.137818406C= | CA1884688520 | EHMT1 | c.3540+268C= (n.3540+268C=) n.26+268C= c.3447+268C= (n.3447+268C=) c.4114+268C= (n.4114+268C=) n.521+268C= c.1614+268C= (n.1614+268C=) c.2397+268C= (n.2397+268C=) n.1264+268C= n.893+268C= c.3531+268C= (n.3531+268C=) c.3522+268C= (n.3522+268C=) c.3549+268C= (n.3549+268C=) c.3546+268C= (n.3546+268C=) c.3528+268C= (n.3528+268C=) c.3471+268C= (n.3471+268C=) c.3405+268C= (n.3405+268C=) c.1971+268C= (n.1971+268C=) c.1323+268C= (n.1323+268C=) c.1110+268C= (n.1110+268C=) c.3384+268C= (n.3384+268C=) n.5297-3844G= c.3519+268C= (n.3519+268C=) c.3525+268C= (n.3525+268C=) c.3441+268C= (n.3441+268C=) c.3426+268C= (n.3426+268C=) c.3369+268C= (n.3369+268C=) c.3303+268C= (n.3303+268C=) c.2664+268C= (n.2664+268C=) c.3282+268C= (n.3282+268C=) | |
9 | g.137818409G>A | CA2721040994 | EHMT1 | c.3540+271G>A (n.3540+271G>A) n.26+271G>A c.3447+271G>A (n.3447+271G>A) c.4114+271G>A (n.4114+271G>A) n.521+271G>A c.1614+271G>A (n.1614+271G>A) c.2397+271G>A (n.2397+271G>A) n.1264+271G>A n.893+271G>A c.3531+271G>A (n.3531+271G>A) c.3522+271G>A (n.3522+271G>A) c.3549+271G>A (n.3549+271G>A) c.3546+271G>A (n.3546+271G>A) c.3528+271G>A (n.3528+271G>A) c.3471+271G>A (n.3471+271G>A) c.3405+271G>A (n.3405+271G>A) c.1971+271G>A (n.1971+271G>A) c.1323+271G>A (n.1323+271G>A) c.1110+271G>A (n.1110+271G>A) c.3384+271G>A (n.3384+271G>A) n.5297-3847C>T c.3519+271G>A (n.3519+271G>A) c.3525+271G>A (n.3525+271G>A) c.3441+271G>A (n.3441+271G>A) c.3426+271G>A (n.3426+271G>A) c.3369+271G>A (n.3369+271G>A) c.3303+271G>A (n.3303+271G>A) c.2664+271G>A (n.2664+271G>A) c.3282+271G>A (n.3282+271G>A) | dbSNP |
9 | g.137818411C= | CA1884688522 | EHMT1 | c.3540+273C= (n.3540+273C=) n.26+273C= c.3447+273C= (n.3447+273C=) c.4114+273C= (n.4114+273C=) n.521+273C= c.1614+273C= (n.1614+273C=) c.2397+273C= (n.2397+273C=) n.1264+273C= n.893+273C= c.3531+273C= (n.3531+273C=) c.3522+273C= (n.3522+273C=) c.3549+273C= (n.3549+273C=) c.3546+273C= (n.3546+273C=) c.3528+273C= (n.3528+273C=) c.3471+273C= (n.3471+273C=) c.3405+273C= (n.3405+273C=) c.1971+273C= (n.1971+273C=) c.1323+273C= (n.1323+273C=) c.1110+273C= (n.1110+273C=) c.3384+273C= (n.3384+273C=) n.5297-3849G= c.3519+273C= (n.3519+273C=) c.3525+273C= (n.3525+273C=) c.3441+273C= (n.3441+273C=) c.3426+273C= (n.3426+273C=) c.3369+273C= (n.3369+273C=) c.3303+273C= (n.3303+273C=) c.2664+273C= (n.2664+273C=) c.3282+273C= (n.3282+273C=) | |
9 | g.137818411C>T | CA861206421 | EHMT1 | c.3540+273C>T (n.3540+273C>T) n.26+273C>T c.3447+273C>T (n.3447+273C>T) c.4114+273C>T (n.4114+273C>T) n.521+273C>T c.1614+273C>T (n.1614+273C>T) c.2397+273C>T (n.2397+273C>T) n.1264+273C>T n.893+273C>T c.3531+273C>T (n.3531+273C>T) c.3522+273C>T (n.3522+273C>T) c.3549+273C>T (n.3549+273C>T) c.3546+273C>T (n.3546+273C>T) c.3528+273C>T (n.3528+273C>T) c.3471+273C>T (n.3471+273C>T) c.3405+273C>T (n.3405+273C>T) c.1971+273C>T (n.1971+273C>T) c.1323+273C>T (n.1323+273C>T) c.1110+273C>T (n.1110+273C>T) c.3384+273C>T (n.3384+273C>T) n.5297-3849G>A c.3519+273C>T (n.3519+273C>T) c.3525+273C>T (n.3525+273C>T) c.3441+273C>T (n.3441+273C>T) c.3426+273C>T (n.3426+273C>T) c.3369+273C>T (n.3369+273C>T) c.3303+273C>T (n.3303+273C>T) c.2664+273C>T (n.2664+273C>T) c.3282+273C>T (n.3282+273C>T) | dbSNP |
9 | g.137818412C= | CA1884688524 | EHMT1 | c.3540+274C= (n.3540+274C=) n.26+274C= c.3447+274C= (n.3447+274C=) c.4114+274C= (n.4114+274C=) n.521+274C= c.1614+274C= (n.1614+274C=) c.2397+274C= (n.2397+274C=) n.1264+274C= n.893+274C= c.3531+274C= (n.3531+274C=) c.3522+274C= (n.3522+274C=) c.3549+274C= (n.3549+274C=) c.3546+274C= (n.3546+274C=) c.3528+274C= (n.3528+274C=) c.3471+274C= (n.3471+274C=) c.3405+274C= (n.3405+274C=) c.1971+274C= (n.1971+274C=) c.1323+274C= (n.1323+274C=) c.1110+274C= (n.1110+274C=) c.3384+274C= (n.3384+274C=) n.5297-3850G= c.3519+274C= (n.3519+274C=) c.3525+274C= (n.3525+274C=) c.3441+274C= (n.3441+274C=) c.3426+274C= (n.3426+274C=) c.3369+274C= (n.3369+274C=) c.3303+274C= (n.3303+274C=) c.2664+274C= (n.2664+274C=) c.3282+274C= (n.3282+274C=) | |
9 | g.137818412C>G | CA861206423 | EHMT1 | c.3540+274C>G (n.3540+274C>G) n.26+274C>G c.3447+274C>G (n.3447+274C>G) c.4114+274C>G (n.4114+274C>G) n.521+274C>G c.1614+274C>G (n.1614+274C>G) c.2397+274C>G (n.2397+274C>G) n.1264+274C>G n.893+274C>G c.3531+274C>G (n.3531+274C>G) c.3522+274C>G (n.3522+274C>G) c.3549+274C>G (n.3549+274C>G) c.3546+274C>G (n.3546+274C>G) c.3528+274C>G (n.3528+274C>G) c.3471+274C>G (n.3471+274C>G) c.3405+274C>G (n.3405+274C>G) c.1971+274C>G (n.1971+274C>G) c.1323+274C>G (n.1323+274C>G) c.1110+274C>G (n.1110+274C>G) c.3384+274C>G (n.3384+274C>G) n.5297-3850G>C c.3519+274C>G (n.3519+274C>G) c.3525+274C>G (n.3525+274C>G) c.3441+274C>G (n.3441+274C>G) c.3426+274C>G (n.3426+274C>G) c.3369+274C>G (n.3369+274C>G) c.3303+274C>G (n.3303+274C>G) c.2664+274C>G (n.2664+274C>G) c.3282+274C>G (n.3282+274C>G) | dbSNP |
9 | g.137818412C>T | CA1884688523 | EHMT1 | c.3540+274C>T (n.3540+274C>T) n.26+274C>T c.3447+274C>T (n.3447+274C>T) c.4114+274C>T (n.4114+274C>T) n.521+274C>T c.1614+274C>T (n.1614+274C>T) c.2397+274C>T (n.2397+274C>T) n.1264+274C>T n.893+274C>T c.3531+274C>T (n.3531+274C>T) c.3522+274C>T (n.3522+274C>T) c.3549+274C>T (n.3549+274C>T) c.3546+274C>T (n.3546+274C>T) c.3528+274C>T (n.3528+274C>T) c.3471+274C>T (n.3471+274C>T) c.3405+274C>T (n.3405+274C>T) c.1971+274C>T (n.1971+274C>T) c.1323+274C>T (n.1323+274C>T) c.1110+274C>T (n.1110+274C>T) c.3384+274C>T (n.3384+274C>T) n.5297-3850G>A c.3519+274C>T (n.3519+274C>T) c.3525+274C>T (n.3525+274C>T) c.3441+274C>T (n.3441+274C>T) c.3426+274C>T (n.3426+274C>T) c.3369+274C>T (n.3369+274C>T) c.3303+274C>T (n.3303+274C>T) c.2664+274C>T (n.2664+274C>T) c.3282+274C>T (n.3282+274C>T) | dbSNP |
9 | g.137818417A= | CA1884688525 | EHMT1 | c.3540+279A= (n.3540+279A=) n.26+279A= c.3447+279A= (n.3447+279A=) c.4114+279A= (n.4114+279A=) n.521+279A= c.1614+279A= (n.1614+279A=) c.2397+279A= (n.2397+279A=) n.1264+279A= n.893+279A= c.3531+279A= (n.3531+279A=) c.3522+279A= (n.3522+279A=) c.3549+279A= (n.3549+279A=) c.3546+279A= (n.3546+279A=) c.3528+279A= (n.3528+279A=) c.3471+279A= (n.3471+279A=) c.3405+279A= (n.3405+279A=) c.1971+279A= (n.1971+279A=) c.1323+279A= (n.1323+279A=) c.1110+279A= (n.1110+279A=) c.3384+279A= (n.3384+279A=) n.5297-3855T= c.3519+279A= (n.3519+279A=) c.3525+279A= (n.3525+279A=) c.3441+279A= (n.3441+279A=) c.3426+279A= (n.3426+279A=) c.3369+279A= (n.3369+279A=) c.3303+279A= (n.3303+279A=) c.2664+279A= (n.2664+279A=) c.3282+279A= (n.3282+279A=) | |
9 | g.137818417A>G | CA591240804 | EHMT1 | c.3540+279A>G (n.3540+279A>G) n.26+279A>G c.3447+279A>G (n.3447+279A>G) c.4114+279A>G (n.4114+279A>G) n.521+279A>G c.1614+279A>G (n.1614+279A>G) c.2397+279A>G (n.2397+279A>G) n.1264+279A>G n.893+279A>G c.3531+279A>G (n.3531+279A>G) c.3522+279A>G (n.3522+279A>G) c.3549+279A>G (n.3549+279A>G) c.3546+279A>G (n.3546+279A>G) c.3528+279A>G (n.3528+279A>G) c.3471+279A>G (n.3471+279A>G) c.3405+279A>G (n.3405+279A>G) c.1971+279A>G (n.1971+279A>G) c.1323+279A>G (n.1323+279A>G) c.1110+279A>G (n.1110+279A>G) c.3384+279A>G (n.3384+279A>G) n.5297-3855T>C c.3519+279A>G (n.3519+279A>G) c.3525+279A>G (n.3525+279A>G) c.3441+279A>G (n.3441+279A>G) c.3426+279A>G (n.3426+279A>G) c.3369+279A>G (n.3369+279A>G) c.3303+279A>G (n.3303+279A>G) c.2664+279A>G (n.2664+279A>G) c.3282+279A>G (n.3282+279A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818419C= | CA1884688526 | EHMT1 | c.3540+281C= (n.3540+281C=) n.26+281C= c.3447+281C= (n.3447+281C=) c.4114+281C= (n.4114+281C=) n.521+281C= c.1614+281C= (n.1614+281C=) c.2397+281C= (n.2397+281C=) n.1264+281C= n.893+281C= c.3531+281C= (n.3531+281C=) c.3522+281C= (n.3522+281C=) c.3549+281C= (n.3549+281C=) c.3546+281C= (n.3546+281C=) c.3528+281C= (n.3528+281C=) c.3471+281C= (n.3471+281C=) c.3405+281C= (n.3405+281C=) c.1971+281C= (n.1971+281C=) c.1323+281C= (n.1323+281C=) c.1110+281C= (n.1110+281C=) c.3384+281C= (n.3384+281C=) n.5297-3857G= c.3519+281C= (n.3519+281C=) c.3525+281C= (n.3525+281C=) c.3441+281C= (n.3441+281C=) c.3426+281C= (n.3426+281C=) c.3369+281C= (n.3369+281C=) c.3303+281C= (n.3303+281C=) c.2664+281C= (n.2664+281C=) c.3282+281C= (n.3282+281C=) | |
9 | g.137818419C>T | CA861206433 | EHMT1 | c.3540+281C>T (n.3540+281C>T) n.26+281C>T c.3447+281C>T (n.3447+281C>T) c.4114+281C>T (n.4114+281C>T) n.521+281C>T c.1614+281C>T (n.1614+281C>T) c.2397+281C>T (n.2397+281C>T) n.1264+281C>T n.893+281C>T c.3531+281C>T (n.3531+281C>T) c.3522+281C>T (n.3522+281C>T) c.3549+281C>T (n.3549+281C>T) c.3546+281C>T (n.3546+281C>T) c.3528+281C>T (n.3528+281C>T) c.3471+281C>T (n.3471+281C>T) c.3405+281C>T (n.3405+281C>T) c.1971+281C>T (n.1971+281C>T) c.1323+281C>T (n.1323+281C>T) c.1110+281C>T (n.1110+281C>T) c.3384+281C>T (n.3384+281C>T) n.5297-3857G>A c.3519+281C>T (n.3519+281C>T) c.3525+281C>T (n.3525+281C>T) c.3441+281C>T (n.3441+281C>T) c.3426+281C>T (n.3426+281C>T) c.3369+281C>T (n.3369+281C>T) c.3303+281C>T (n.3303+281C>T) c.2664+281C>T (n.2664+281C>T) c.3282+281C>T (n.3282+281C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818421A>C | CA2721041013 | EHMT1 | c.3540+283A>C (n.3540+283A>C) n.26+283A>C c.3447+283A>C (n.3447+283A>C) c.4114+283A>C (n.4114+283A>C) n.521+283A>C c.1614+283A>C (n.1614+283A>C) c.2397+283A>C (n.2397+283A>C) n.1264+283A>C n.893+283A>C c.3531+283A>C (n.3531+283A>C) c.3522+283A>C (n.3522+283A>C) c.3549+283A>C (n.3549+283A>C) c.3546+283A>C (n.3546+283A>C) c.3528+283A>C (n.3528+283A>C) c.3471+283A>C (n.3471+283A>C) c.3405+283A>C (n.3405+283A>C) c.1971+283A>C (n.1971+283A>C) c.1323+283A>C (n.1323+283A>C) c.1110+283A>C (n.1110+283A>C) c.3384+283A>C (n.3384+283A>C) n.5297-3859T>G c.3519+283A>C (n.3519+283A>C) c.3525+283A>C (n.3525+283A>C) c.3441+283A>C (n.3441+283A>C) c.3426+283A>C (n.3426+283A>C) c.3369+283A>C (n.3369+283A>C) c.3303+283A>C (n.3303+283A>C) c.2664+283A>C (n.2664+283A>C) c.3282+283A>C (n.3282+283A>C) | dbSNP |
9 | g.137818428A= | CA1884688527 | EHMT1 | c.3540+290A= (n.3540+290A=) n.26+290A= c.3447+290A= (n.3447+290A=) c.4114+290A= (n.4114+290A=) n.521+290A= c.1614+290A= (n.1614+290A=) c.2397+290A= (n.2397+290A=) n.1264+290A= n.893+290A= c.3531+290A= (n.3531+290A=) c.3522+290A= (n.3522+290A=) c.3549+290A= (n.3549+290A=) c.3546+290A= (n.3546+290A=) c.3528+290A= (n.3528+290A=) c.3471+290A= (n.3471+290A=) c.3405+290A= (n.3405+290A=) c.1971+290A= (n.1971+290A=) c.1323+290A= (n.1323+290A=) c.1110+290A= (n.1110+290A=) c.3384+290A= (n.3384+290A=) n.5297-3866T= c.3519+290A= (n.3519+290A=) c.3525+290A= (n.3525+290A=) c.3441+290A= (n.3441+290A=) c.3426+290A= (n.3426+290A=) c.3369+290A= (n.3369+290A=) c.3303+290A= (n.3303+290A=) c.2664+290A= (n.2664+290A=) c.3282+290A= (n.3282+290A=) | |
9 | g.137818428A>G | CA201800570 | EHMT1 | c.3540+290A>G (n.3540+290A>G) n.26+290A>G c.3447+290A>G (n.3447+290A>G) c.4114+290A>G (n.4114+290A>G) n.521+290A>G c.1614+290A>G (n.1614+290A>G) c.2397+290A>G (n.2397+290A>G) n.1264+290A>G n.893+290A>G c.3531+290A>G (n.3531+290A>G) c.3522+290A>G (n.3522+290A>G) c.3549+290A>G (n.3549+290A>G) c.3546+290A>G (n.3546+290A>G) c.3528+290A>G (n.3528+290A>G) c.3471+290A>G (n.3471+290A>G) c.3405+290A>G (n.3405+290A>G) c.1971+290A>G (n.1971+290A>G) c.1323+290A>G (n.1323+290A>G) c.1110+290A>G (n.1110+290A>G) c.3384+290A>G (n.3384+290A>G) n.5297-3866T>C c.3519+290A>G (n.3519+290A>G) c.3525+290A>G (n.3525+290A>G) c.3441+290A>G (n.3441+290A>G) c.3426+290A>G (n.3426+290A>G) c.3369+290A>G (n.3369+290A>G) c.3303+290A>G (n.3303+290A>G) c.2664+290A>G (n.2664+290A>G) c.3282+290A>G (n.3282+290A>G) | dbSNP |
9 | g.137818429G>C | CA1884688529 | EHMT1 | c.3540+291G>C (n.3540+291G>C) n.26+291G>C c.3447+291G>C (n.3447+291G>C) c.4114+291G>C (n.4114+291G>C) n.521+291G>C c.1614+291G>C (n.1614+291G>C) c.2397+291G>C (n.2397+291G>C) n.1264+291G>C n.893+291G>C c.3531+291G>C (n.3531+291G>C) c.3522+291G>C (n.3522+291G>C) c.3549+291G>C (n.3549+291G>C) c.3546+291G>C (n.3546+291G>C) c.3528+291G>C (n.3528+291G>C) c.3471+291G>C (n.3471+291G>C) c.3405+291G>C (n.3405+291G>C) c.1971+291G>C (n.1971+291G>C) c.1323+291G>C (n.1323+291G>C) c.1110+291G>C (n.1110+291G>C) c.3384+291G>C (n.3384+291G>C) n.5297-3867C>G c.3519+291G>C (n.3519+291G>C) c.3525+291G>C (n.3525+291G>C) c.3441+291G>C (n.3441+291G>C) c.3426+291G>C (n.3426+291G>C) c.3369+291G>C (n.3369+291G>C) c.3303+291G>C (n.3303+291G>C) c.2664+291G>C (n.2664+291G>C) c.3282+291G>C (n.3282+291G>C) | dbSNP |
9 | g.137818429G= | CA1884688528 | EHMT1 | c.3540+291G= (n.3540+291G=) n.26+291G= c.3447+291G= (n.3447+291G=) c.4114+291G= (n.4114+291G=) n.521+291G= c.1614+291G= (n.1614+291G=) c.2397+291G= (n.2397+291G=) n.1264+291G= n.893+291G= c.3531+291G= (n.3531+291G=) c.3522+291G= (n.3522+291G=) c.3549+291G= (n.3549+291G=) c.3546+291G= (n.3546+291G=) c.3528+291G= (n.3528+291G=) c.3471+291G= (n.3471+291G=) c.3405+291G= (n.3405+291G=) c.1971+291G= (n.1971+291G=) c.1323+291G= (n.1323+291G=) c.1110+291G= (n.1110+291G=) c.3384+291G= (n.3384+291G=) n.5297-3867C= c.3519+291G= (n.3519+291G=) c.3525+291G= (n.3525+291G=) c.3441+291G= (n.3441+291G=) c.3426+291G= (n.3426+291G=) c.3369+291G= (n.3369+291G=) c.3303+291G= (n.3303+291G=) c.2664+291G= (n.2664+291G=) c.3282+291G= (n.3282+291G=) | |
9 | g.137818431_137818434delinsATCT | CA1884688530 | EHMT1 | c.3540+293_3540+296delinsATCT (n.3540+293_3540+296delinsATCT) n.26+293_26+296delinsATCT c.3447+293_3447+296delinsATCT (n.3447+293_3447+296delinsATCT) c.4114+293_4114+296delinsATCT (n.4114+293_4114+296delinsATCT) n.521+293_521+296delinsATCT c.1614+293_1614+296delinsATCT (n.1614+293_1614+296delinsATCT) c.2397+293_2397+296delinsATCT (n.2397+293_2397+296delinsATCT) n.1264+293_1264+296delinsATCT n.893+293_893+296delinsATCT c.3531+293_3531+296delinsATCT (n.3531+293_3531+296delinsATCT) c.3522+293_3522+296delinsATCT (n.3522+293_3522+296delinsATCT) c.3549+293_3549+296delinsATCT (n.3549+293_3549+296delinsATCT) c.3546+293_3546+296delinsATCT (n.3546+293_3546+296delinsATCT) c.3528+293_3528+296delinsATCT (n.3528+293_3528+296delinsATCT) c.3471+293_3471+296delinsATCT (n.3471+293_3471+296delinsATCT) c.3405+293_3405+296delinsATCT (n.3405+293_3405+296delinsATCT) c.1971+293_1971+296delinsATCT (n.1971+293_1971+296delinsATCT) c.1323+293_1323+296delinsATCT (n.1323+293_1323+296delinsATCT) c.1110+293_1110+296delinsATCT (n.1110+293_1110+296delinsATCT) c.3384+293_3384+296delinsATCT (n.3384+293_3384+296delinsATCT) n.5297-3872_5297-3869delinsAGAT c.3519+293_3519+296delinsATCT (n.3519+293_3519+296delinsATCT) c.3525+293_3525+296delinsATCT (n.3525+293_3525+296delinsATCT) c.3441+293_3441+296delinsATCT (n.3441+293_3441+296delinsATCT) c.3426+293_3426+296delinsATCT (n.3426+293_3426+296delinsATCT) c.3369+293_3369+296delinsATCT (n.3369+293_3369+296delinsATCT) c.3303+293_3303+296delinsATCT (n.3303+293_3303+296delinsATCT) c.2664+293_2664+296delinsATCT (n.2664+293_2664+296delinsATCT) c.3282+293_3282+296delinsATCT (n.3282+293_3282+296delinsATCT) | |
9 | g.137818433_137818435del | CA591240805 | EHMT1 | c.3540+295_3540+297del (n.3540+295_3540+297del) n.26+295_26+297del c.3447+295_3447+297del (n.3447+295_3447+297del) c.4114+295_4114+297del (n.4114+295_4114+297del) n.521+295_521+297del c.1614+295_1614+297del (n.1614+295_1614+297del) c.2397+295_2397+297del (n.2397+295_2397+297del) n.1264+295_1264+297del n.893+295_893+297del c.3531+295_3531+297del (n.3531+295_3531+297del) c.3522+295_3522+297del (n.3522+295_3522+297del) c.3549+295_3549+297del (n.3549+295_3549+297del) c.3546+295_3546+297del (n.3546+295_3546+297del) c.3528+295_3528+297del (n.3528+295_3528+297del) c.3471+295_3471+297del (n.3471+295_3471+297del) c.3405+295_3405+297del (n.3405+295_3405+297del) c.1971+295_1971+297del (n.1971+295_1971+297del) c.1323+295_1323+297del (n.1323+295_1323+297del) c.1110+295_1110+297del (n.1110+295_1110+297del) c.3384+295_3384+297del (n.3384+295_3384+297del) n.5297-3872_5297-3870del c.3519+295_3519+297del (n.3519+295_3519+297del) c.3525+295_3525+297del (n.3525+295_3525+297del) c.3441+295_3441+297del (n.3441+295_3441+297del) c.3426+295_3426+297del (n.3426+295_3426+297del) c.3369+295_3369+297del (n.3369+295_3369+297del) c.3303+295_3303+297del (n.3303+295_3303+297del) c.2664+295_2664+297del (n.2664+295_2664+297del) c.3282+295_3282+297del (n.3282+295_3282+297del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818434T>C | CA1884688532 | EHMT1 | c.3540+296T>C (n.3540+296T>C) n.26+296T>C c.3447+296T>C (n.3447+296T>C) c.4114+296T>C (n.4114+296T>C) n.521+296T>C c.1614+296T>C (n.1614+296T>C) c.2397+296T>C (n.2397+296T>C) n.1264+296T>C n.893+296T>C c.3531+296T>C (n.3531+296T>C) c.3522+296T>C (n.3522+296T>C) c.3549+296T>C (n.3549+296T>C) c.3546+296T>C (n.3546+296T>C) c.3528+296T>C (n.3528+296T>C) c.3471+296T>C (n.3471+296T>C) c.3405+296T>C (n.3405+296T>C) c.1971+296T>C (n.1971+296T>C) c.1323+296T>C (n.1323+296T>C) c.1110+296T>C (n.1110+296T>C) c.3384+296T>C (n.3384+296T>C) n.5297-3872A>G c.3519+296T>C (n.3519+296T>C) c.3525+296T>C (n.3525+296T>C) c.3441+296T>C (n.3441+296T>C) c.3426+296T>C (n.3426+296T>C) c.3369+296T>C (n.3369+296T>C) c.3303+296T>C (n.3303+296T>C) c.2664+296T>C (n.2664+296T>C) c.3282+296T>C (n.3282+296T>C) | dbSNP |
9 | g.137818434T= | CA1884688531 | EHMT1 | c.3540+296T= (n.3540+296T=) n.26+296T= c.3447+296T= (n.3447+296T=) c.4114+296T= (n.4114+296T=) n.521+296T= c.1614+296T= (n.1614+296T=) c.2397+296T= (n.2397+296T=) n.1264+296T= n.893+296T= c.3531+296T= (n.3531+296T=) c.3522+296T= (n.3522+296T=) c.3549+296T= (n.3549+296T=) c.3546+296T= (n.3546+296T=) c.3528+296T= (n.3528+296T=) c.3471+296T= (n.3471+296T=) c.3405+296T= (n.3405+296T=) c.1971+296T= (n.1971+296T=) c.1323+296T= (n.1323+296T=) c.1110+296T= (n.1110+296T=) c.3384+296T= (n.3384+296T=) n.5297-3872A= c.3519+296T= (n.3519+296T=) c.3525+296T= (n.3525+296T=) c.3441+296T= (n.3441+296T=) c.3426+296T= (n.3426+296T=) c.3369+296T= (n.3369+296T=) c.3303+296T= (n.3303+296T=) c.2664+296T= (n.2664+296T=) c.3282+296T= (n.3282+296T=) | |
9 | g.137818435T>C | CA1130164352 | EHMT1 | c.3540+297T>C (n.3540+297T>C) n.26+297T>C c.3447+297T>C (n.3447+297T>C) c.4114+297T>C (n.4114+297T>C) n.521+297T>C c.1614+297T>C (n.1614+297T>C) c.2397+297T>C (n.2397+297T>C) n.1264+297T>C n.893+297T>C c.3531+297T>C (n.3531+297T>C) c.3522+297T>C (n.3522+297T>C) c.3549+297T>C (n.3549+297T>C) c.3546+297T>C (n.3546+297T>C) c.3528+297T>C (n.3528+297T>C) c.3471+297T>C (n.3471+297T>C) c.3405+297T>C (n.3405+297T>C) c.1971+297T>C (n.1971+297T>C) c.1323+297T>C (n.1323+297T>C) c.1110+297T>C (n.1110+297T>C) c.3384+297T>C (n.3384+297T>C) n.5297-3873A>G c.3519+297T>C (n.3519+297T>C) c.3525+297T>C (n.3525+297T>C) c.3441+297T>C (n.3441+297T>C) c.3426+297T>C (n.3426+297T>C) c.3369+297T>C (n.3369+297T>C) c.3303+297T>C (n.3303+297T>C) c.2664+297T>C (n.2664+297T>C) c.3282+297T>C (n.3282+297T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818435T= | CA1884688533 | EHMT1 | c.3540+297T= (n.3540+297T=) n.26+297T= c.3447+297T= (n.3447+297T=) c.4114+297T= (n.4114+297T=) n.521+297T= c.1614+297T= (n.1614+297T=) c.2397+297T= (n.2397+297T=) n.1264+297T= n.893+297T= c.3531+297T= (n.3531+297T=) c.3522+297T= (n.3522+297T=) c.3549+297T= (n.3549+297T=) c.3546+297T= (n.3546+297T=) c.3528+297T= (n.3528+297T=) c.3471+297T= (n.3471+297T=) c.3405+297T= (n.3405+297T=) c.1971+297T= (n.1971+297T=) c.1323+297T= (n.1323+297T=) c.1110+297T= (n.1110+297T=) c.3384+297T= (n.3384+297T=) n.5297-3873A= c.3519+297T= (n.3519+297T=) c.3525+297T= (n.3525+297T=) c.3441+297T= (n.3441+297T=) c.3426+297T= (n.3426+297T=) c.3369+297T= (n.3369+297T=) c.3303+297T= (n.3303+297T=) c.2664+297T= (n.2664+297T=) c.3282+297T= (n.3282+297T=) | |
9 | g.137818436G>A | CA1884688534 | EHMT1 | c.3540+298G>A (n.3540+298G>A) n.26+298G>A c.3447+298G>A (n.3447+298G>A) c.4114+298G>A (n.4114+298G>A) n.521+298G>A c.1614+298G>A (n.1614+298G>A) c.2397+298G>A (n.2397+298G>A) n.1264+298G>A n.893+298G>A c.3531+298G>A (n.3531+298G>A) c.3522+298G>A (n.3522+298G>A) c.3549+298G>A (n.3549+298G>A) c.3546+298G>A (n.3546+298G>A) c.3528+298G>A (n.3528+298G>A) c.3471+298G>A (n.3471+298G>A) c.3405+298G>A (n.3405+298G>A) c.1971+298G>A (n.1971+298G>A) c.1323+298G>A (n.1323+298G>A) c.1110+298G>A (n.1110+298G>A) c.3384+298G>A (n.3384+298G>A) n.5297-3874C>T c.3519+298G>A (n.3519+298G>A) c.3525+298G>A (n.3525+298G>A) c.3441+298G>A (n.3441+298G>A) c.3426+298G>A (n.3426+298G>A) c.3369+298G>A (n.3369+298G>A) c.3303+298G>A (n.3303+298G>A) c.2664+298G>A (n.2664+298G>A) c.3282+298G>A (n.3282+298G>A) | dbSNP |
9 | g.137818436G= | CA1884688535 | EHMT1 | c.3540+298G= (n.3540+298G=) n.26+298G= c.3447+298G= (n.3447+298G=) c.4114+298G= (n.4114+298G=) n.521+298G= c.1614+298G= (n.1614+298G=) c.2397+298G= (n.2397+298G=) n.1264+298G= n.893+298G= c.3531+298G= (n.3531+298G=) c.3522+298G= (n.3522+298G=) c.3549+298G= (n.3549+298G=) c.3546+298G= (n.3546+298G=) c.3528+298G= (n.3528+298G=) c.3471+298G= (n.3471+298G=) c.3405+298G= (n.3405+298G=) c.1971+298G= (n.1971+298G=) c.1323+298G= (n.1323+298G=) c.1110+298G= (n.1110+298G=) c.3384+298G= (n.3384+298G=) n.5297-3874C= c.3519+298G= (n.3519+298G=) c.3525+298G= (n.3525+298G=) c.3441+298G= (n.3441+298G=) c.3426+298G= (n.3426+298G=) c.3369+298G= (n.3369+298G=) c.3303+298G= (n.3303+298G=) c.2664+298G= (n.2664+298G=) c.3282+298G= (n.3282+298G=) | |
9 | g.137818437G>A | CA2786319787 | EHMT1 | c.3540+299G>A (n.3540+299G>A) n.26+299G>A c.3447+299G>A (n.3447+299G>A) c.4114+299G>A (n.4114+299G>A) n.521+299G>A c.1614+299G>A (n.1614+299G>A) c.2397+299G>A (n.2397+299G>A) n.1264+299G>A n.893+299G>A c.3531+299G>A (n.3531+299G>A) c.3522+299G>A (n.3522+299G>A) c.3549+299G>A (n.3549+299G>A) c.3546+299G>A (n.3546+299G>A) c.3528+299G>A (n.3528+299G>A) c.3471+299G>A (n.3471+299G>A) c.3405+299G>A (n.3405+299G>A) c.1971+299G>A (n.1971+299G>A) c.1323+299G>A (n.1323+299G>A) c.1110+299G>A (n.1110+299G>A) c.3384+299G>A (n.3384+299G>A) n.5297-3875C>T c.3519+299G>A (n.3519+299G>A) c.3525+299G>A (n.3525+299G>A) c.3441+299G>A (n.3441+299G>A) c.3426+299G>A (n.3426+299G>A) c.3369+299G>A (n.3369+299G>A) c.3303+299G>A (n.3303+299G>A) c.2664+299G>A (n.2664+299G>A) c.3282+299G>A (n.3282+299G>A) | |
9 | g.137818438G>A | CA861206437 | EHMT1 | c.3540+300G>A (n.3540+300G>A) n.26+300G>A c.3447+300G>A (n.3447+300G>A) c.4114+300G>A (n.4114+300G>A) n.521+300G>A c.1614+300G>A (n.1614+300G>A) c.2397+300G>A (n.2397+300G>A) n.1264+300G>A n.893+300G>A c.3531+300G>A (n.3531+300G>A) c.3522+300G>A (n.3522+300G>A) c.3549+300G>A (n.3549+300G>A) c.3546+300G>A (n.3546+300G>A) c.3528+300G>A (n.3528+300G>A) c.3471+300G>A (n.3471+300G>A) c.3405+300G>A (n.3405+300G>A) c.1971+300G>A (n.1971+300G>A) c.1323+300G>A (n.1323+300G>A) c.1110+300G>A (n.1110+300G>A) c.3384+300G>A (n.3384+300G>A) n.5297-3876C>T c.3519+300G>A (n.3519+300G>A) c.3525+300G>A (n.3525+300G>A) c.3441+300G>A (n.3441+300G>A) c.3426+300G>A (n.3426+300G>A) c.3369+300G>A (n.3369+300G>A) c.3303+300G>A (n.3303+300G>A) c.2664+300G>A (n.2664+300G>A) c.3282+300G>A (n.3282+300G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818438G= | CA1884688536 | EHMT1 | c.3540+300G= (n.3540+300G=) n.26+300G= c.3447+300G= (n.3447+300G=) c.4114+300G= (n.4114+300G=) n.521+300G= c.1614+300G= (n.1614+300G=) c.2397+300G= (n.2397+300G=) n.1264+300G= n.893+300G= c.3531+300G= (n.3531+300G=) c.3522+300G= (n.3522+300G=) c.3549+300G= (n.3549+300G=) c.3546+300G= (n.3546+300G=) c.3528+300G= (n.3528+300G=) c.3471+300G= (n.3471+300G=) c.3405+300G= (n.3405+300G=) c.1971+300G= (n.1971+300G=) c.1323+300G= (n.1323+300G=) c.1110+300G= (n.1110+300G=) c.3384+300G= (n.3384+300G=) n.5297-3876C= c.3519+300G= (n.3519+300G=) c.3525+300G= (n.3525+300G=) c.3441+300G= (n.3441+300G=) c.3426+300G= (n.3426+300G=) c.3369+300G= (n.3369+300G=) c.3303+300G= (n.3303+300G=) c.2664+300G= (n.2664+300G=) c.3282+300G= (n.3282+300G=) | |
9 | g.137818441G>T | CA2507646123 | EHMT1 | c.3540+303G>T (n.3540+303G>T) n.26+303G>T c.3447+303G>T (n.3447+303G>T) c.4114+303G>T (n.4114+303G>T) n.521+303G>T c.1614+303G>T (n.1614+303G>T) c.2397+303G>T (n.2397+303G>T) n.1264+303G>T n.893+303G>T c.3531+303G>T (n.3531+303G>T) c.3522+303G>T (n.3522+303G>T) c.3549+303G>T (n.3549+303G>T) c.3546+303G>T (n.3546+303G>T) c.3528+303G>T (n.3528+303G>T) c.3471+303G>T (n.3471+303G>T) c.3405+303G>T (n.3405+303G>T) c.1971+303G>T (n.1971+303G>T) c.1323+303G>T (n.1323+303G>T) c.1110+303G>T (n.1110+303G>T) c.3384+303G>T (n.3384+303G>T) n.5297-3879C>A c.3519+303G>T (n.3519+303G>T) c.3525+303G>T (n.3525+303G>T) c.3441+303G>T (n.3441+303G>T) c.3426+303G>T (n.3426+303G>T) c.3369+303G>T (n.3369+303G>T) c.3303+303G>T (n.3303+303G>T) c.2664+303G>T (n.2664+303G>T) c.3282+303G>T (n.3282+303G>T) | |
9 | g.137818442G>A | CA1884688538 | EHMT1 | c.3540+304G>A (n.3540+304G>A) n.26+304G>A c.3447+304G>A (n.3447+304G>A) c.4114+304G>A (n.4114+304G>A) n.521+304G>A c.1614+304G>A (n.1614+304G>A) c.2397+304G>A (n.2397+304G>A) n.1264+304G>A n.893+304G>A c.3531+304G>A (n.3531+304G>A) c.3522+304G>A (n.3522+304G>A) c.3549+304G>A (n.3549+304G>A) c.3546+304G>A (n.3546+304G>A) c.3528+304G>A (n.3528+304G>A) c.3471+304G>A (n.3471+304G>A) c.3405+304G>A (n.3405+304G>A) c.1971+304G>A (n.1971+304G>A) c.1323+304G>A (n.1323+304G>A) c.1110+304G>A (n.1110+304G>A) c.3384+304G>A (n.3384+304G>A) n.5297-3880C>T c.3519+304G>A (n.3519+304G>A) c.3525+304G>A (n.3525+304G>A) c.3441+304G>A (n.3441+304G>A) c.3426+304G>A (n.3426+304G>A) c.3369+304G>A (n.3369+304G>A) c.3303+304G>A (n.3303+304G>A) c.2664+304G>A (n.2664+304G>A) c.3282+304G>A (n.3282+304G>A) | dbSNP |
9 | g.137818442G>C | CA201800590 | EHMT1 | c.3540+304G>C (n.3540+304G>C) n.26+304G>C c.3447+304G>C (n.3447+304G>C) c.4114+304G>C (n.4114+304G>C) n.521+304G>C c.1614+304G>C (n.1614+304G>C) c.2397+304G>C (n.2397+304G>C) n.1264+304G>C n.893+304G>C c.3531+304G>C (n.3531+304G>C) c.3522+304G>C (n.3522+304G>C) c.3549+304G>C (n.3549+304G>C) c.3546+304G>C (n.3546+304G>C) c.3528+304G>C (n.3528+304G>C) c.3471+304G>C (n.3471+304G>C) c.3405+304G>C (n.3405+304G>C) c.1971+304G>C (n.1971+304G>C) c.1323+304G>C (n.1323+304G>C) c.1110+304G>C (n.1110+304G>C) c.3384+304G>C (n.3384+304G>C) n.5297-3880C>G c.3519+304G>C (n.3519+304G>C) c.3525+304G>C (n.3525+304G>C) c.3441+304G>C (n.3441+304G>C) c.3426+304G>C (n.3426+304G>C) c.3369+304G>C (n.3369+304G>C) c.3303+304G>C (n.3303+304G>C) c.2664+304G>C (n.2664+304G>C) c.3282+304G>C (n.3282+304G>C) | dbSNP |
9 | g.137818442G= | CA1884688537 | EHMT1 | c.3540+304G= (n.3540+304G=) n.26+304G= c.3447+304G= (n.3447+304G=) c.4114+304G= (n.4114+304G=) n.521+304G= c.1614+304G= (n.1614+304G=) c.2397+304G= (n.2397+304G=) n.1264+304G= n.893+304G= c.3531+304G= (n.3531+304G=) c.3522+304G= (n.3522+304G=) c.3549+304G= (n.3549+304G=) c.3546+304G= (n.3546+304G=) c.3528+304G= (n.3528+304G=) c.3471+304G= (n.3471+304G=) c.3405+304G= (n.3405+304G=) c.1971+304G= (n.1971+304G=) c.1323+304G= (n.1323+304G=) c.1110+304G= (n.1110+304G=) c.3384+304G= (n.3384+304G=) n.5297-3880C= c.3519+304G= (n.3519+304G=) c.3525+304G= (n.3525+304G=) c.3441+304G= (n.3441+304G=) c.3426+304G= (n.3426+304G=) c.3369+304G= (n.3369+304G=) c.3303+304G= (n.3303+304G=) c.2664+304G= (n.2664+304G=) c.3282+304G= (n.3282+304G=) | |
9 | g.137818442G>T | CA201800600 | EHMT1 | c.3540+304G>T (n.3540+304G>T) n.26+304G>T c.3447+304G>T (n.3447+304G>T) c.4114+304G>T (n.4114+304G>T) n.521+304G>T c.1614+304G>T (n.1614+304G>T) c.2397+304G>T (n.2397+304G>T) n.1264+304G>T n.893+304G>T c.3531+304G>T (n.3531+304G>T) c.3522+304G>T (n.3522+304G>T) c.3549+304G>T (n.3549+304G>T) c.3546+304G>T (n.3546+304G>T) c.3528+304G>T (n.3528+304G>T) c.3471+304G>T (n.3471+304G>T) c.3405+304G>T (n.3405+304G>T) c.1971+304G>T (n.1971+304G>T) c.1323+304G>T (n.1323+304G>T) c.1110+304G>T (n.1110+304G>T) c.3384+304G>T (n.3384+304G>T) n.5297-3880C>A c.3519+304G>T (n.3519+304G>T) c.3525+304G>T (n.3525+304G>T) c.3441+304G>T (n.3441+304G>T) c.3426+304G>T (n.3426+304G>T) c.3369+304G>T (n.3369+304G>T) c.3303+304G>T (n.3303+304G>T) c.2664+304G>T (n.2664+304G>T) c.3282+304G>T (n.3282+304G>T) | dbSNP |
9 | g.137818443G>A | CA1884688540 | EHMT1 | c.3540+305G>A (n.3540+305G>A) n.26+305G>A c.3447+305G>A (n.3447+305G>A) c.4114+305G>A (n.4114+305G>A) n.521+305G>A c.1614+305G>A (n.1614+305G>A) c.2397+305G>A (n.2397+305G>A) n.1264+305G>A n.893+305G>A c.3531+305G>A (n.3531+305G>A) c.3522+305G>A (n.3522+305G>A) c.3549+305G>A (n.3549+305G>A) c.3546+305G>A (n.3546+305G>A) c.3528+305G>A (n.3528+305G>A) c.3471+305G>A (n.3471+305G>A) c.3405+305G>A (n.3405+305G>A) c.1971+305G>A (n.1971+305G>A) c.1323+305G>A (n.1323+305G>A) c.1110+305G>A (n.1110+305G>A) c.3384+305G>A (n.3384+305G>A) n.5297-3881C>T c.3519+305G>A (n.3519+305G>A) c.3525+305G>A (n.3525+305G>A) c.3441+305G>A (n.3441+305G>A) c.3426+305G>A (n.3426+305G>A) c.3369+305G>A (n.3369+305G>A) c.3303+305G>A (n.3303+305G>A) c.2664+305G>A (n.2664+305G>A) c.3282+305G>A (n.3282+305G>A) | dbSNP |
9 | g.137818443G= | CA1884688539 | EHMT1 | c.3540+305G= (n.3540+305G=) n.26+305G= c.3447+305G= (n.3447+305G=) c.4114+305G= (n.4114+305G=) n.521+305G= c.1614+305G= (n.1614+305G=) c.2397+305G= (n.2397+305G=) n.1264+305G= n.893+305G= c.3531+305G= (n.3531+305G=) c.3522+305G= (n.3522+305G=) c.3549+305G= (n.3549+305G=) c.3546+305G= (n.3546+305G=) c.3528+305G= (n.3528+305G=) c.3471+305G= (n.3471+305G=) c.3405+305G= (n.3405+305G=) c.1971+305G= (n.1971+305G=) c.1323+305G= (n.1323+305G=) c.1110+305G= (n.1110+305G=) c.3384+305G= (n.3384+305G=) n.5297-3881C= c.3519+305G= (n.3519+305G=) c.3525+305G= (n.3525+305G=) c.3441+305G= (n.3441+305G=) c.3426+305G= (n.3426+305G=) c.3369+305G= (n.3369+305G=) c.3303+305G= (n.3303+305G=) c.2664+305G= (n.2664+305G=) c.3282+305G= (n.3282+305G=) | |
9 | g.137818444G>A | CA861206443 | EHMT1 | c.3540+306G>A (n.3540+306G>A) n.26+306G>A c.3447+306G>A (n.3447+306G>A) c.4114+306G>A (n.4114+306G>A) n.521+306G>A c.1614+306G>A (n.1614+306G>A) c.2397+306G>A (n.2397+306G>A) n.1264+306G>A n.893+306G>A c.3531+306G>A (n.3531+306G>A) c.3522+306G>A (n.3522+306G>A) c.3549+306G>A (n.3549+306G>A) c.3546+306G>A (n.3546+306G>A) c.3528+306G>A (n.3528+306G>A) c.3471+306G>A (n.3471+306G>A) c.3405+306G>A (n.3405+306G>A) c.1971+306G>A (n.1971+306G>A) c.1323+306G>A (n.1323+306G>A) c.1110+306G>A (n.1110+306G>A) c.3384+306G>A (n.3384+306G>A) n.5297-3882C>T c.3519+306G>A (n.3519+306G>A) c.3525+306G>A (n.3525+306G>A) c.3441+306G>A (n.3441+306G>A) c.3426+306G>A (n.3426+306G>A) c.3369+306G>A (n.3369+306G>A) c.3303+306G>A (n.3303+306G>A) c.2664+306G>A (n.2664+306G>A) c.3282+306G>A (n.3282+306G>A) | dbSNP |
9 | g.137818444G= | CA1884688541 | EHMT1 | c.3540+306G= (n.3540+306G=) n.26+306G= c.3447+306G= (n.3447+306G=) c.4114+306G= (n.4114+306G=) n.521+306G= c.1614+306G= (n.1614+306G=) c.2397+306G= (n.2397+306G=) n.1264+306G= n.893+306G= c.3531+306G= (n.3531+306G=) c.3522+306G= (n.3522+306G=) c.3549+306G= (n.3549+306G=) c.3546+306G= (n.3546+306G=) c.3528+306G= (n.3528+306G=) c.3471+306G= (n.3471+306G=) c.3405+306G= (n.3405+306G=) c.1971+306G= (n.1971+306G=) c.1323+306G= (n.1323+306G=) c.1110+306G= (n.1110+306G=) c.3384+306G= (n.3384+306G=) n.5297-3882C= c.3519+306G= (n.3519+306G=) c.3525+306G= (n.3525+306G=) c.3441+306G= (n.3441+306G=) c.3426+306G= (n.3426+306G=) c.3369+306G= (n.3369+306G=) c.3303+306G= (n.3303+306G=) c.2664+306G= (n.2664+306G=) c.3282+306G= (n.3282+306G=) | |
9 | g.137818445C= | CA1884688542 | EHMT1 | c.3540+307C= (n.3540+307C=) n.26+307C= c.3447+307C= (n.3447+307C=) c.4114+307C= (n.4114+307C=) n.521+307C= c.1614+307C= (n.1614+307C=) c.2397+307C= (n.2397+307C=) n.1264+307C= n.893+307C= c.3531+307C= (n.3531+307C=) c.3522+307C= (n.3522+307C=) c.3549+307C= (n.3549+307C=) c.3546+307C= (n.3546+307C=) c.3528+307C= (n.3528+307C=) c.3471+307C= (n.3471+307C=) c.3405+307C= (n.3405+307C=) c.1971+307C= (n.1971+307C=) c.1323+307C= (n.1323+307C=) c.1110+307C= (n.1110+307C=) c.3384+307C= (n.3384+307C=) n.5297-3883G= c.3519+307C= (n.3519+307C=) c.3525+307C= (n.3525+307C=) c.3441+307C= (n.3441+307C=) c.3426+307C= (n.3426+307C=) c.3369+307C= (n.3369+307C=) c.3303+307C= (n.3303+307C=) c.2664+307C= (n.2664+307C=) c.3282+307C= (n.3282+307C=) | |
9 | g.137818445C>T | CA1884688543 | EHMT1 | c.3540+307C>T (n.3540+307C>T) n.26+307C>T c.3447+307C>T (n.3447+307C>T) c.4114+307C>T (n.4114+307C>T) n.521+307C>T c.1614+307C>T (n.1614+307C>T) c.2397+307C>T (n.2397+307C>T) n.1264+307C>T n.893+307C>T c.3531+307C>T (n.3531+307C>T) c.3522+307C>T (n.3522+307C>T) c.3549+307C>T (n.3549+307C>T) c.3546+307C>T (n.3546+307C>T) c.3528+307C>T (n.3528+307C>T) c.3471+307C>T (n.3471+307C>T) c.3405+307C>T (n.3405+307C>T) c.1971+307C>T (n.1971+307C>T) c.1323+307C>T (n.1323+307C>T) c.1110+307C>T (n.1110+307C>T) c.3384+307C>T (n.3384+307C>T) n.5297-3883G>A c.3519+307C>T (n.3519+307C>T) c.3525+307C>T (n.3525+307C>T) c.3441+307C>T (n.3441+307C>T) c.3426+307C>T (n.3426+307C>T) c.3369+307C>T (n.3369+307C>T) c.3303+307C>T (n.3303+307C>T) c.2664+307C>T (n.2664+307C>T) c.3282+307C>T (n.3282+307C>T) | dbSNP |
9 | g.137818448G>A | CA1884688545 | EHMT1 | c.3540+310G>A (n.3540+310G>A) n.26+310G>A c.3447+310G>A (n.3447+310G>A) c.4114+310G>A (n.4114+310G>A) n.521+310G>A c.1614+310G>A (n.1614+310G>A) c.2397+310G>A (n.2397+310G>A) n.1264+310G>A n.893+310G>A c.3531+310G>A (n.3531+310G>A) c.3522+310G>A (n.3522+310G>A) c.3549+310G>A (n.3549+310G>A) c.3546+310G>A (n.3546+310G>A) c.3528+310G>A (n.3528+310G>A) c.3471+310G>A (n.3471+310G>A) c.3405+310G>A (n.3405+310G>A) c.1971+310G>A (n.1971+310G>A) c.1323+310G>A (n.1323+310G>A) c.1110+310G>A (n.1110+310G>A) c.3384+310G>A (n.3384+310G>A) n.5297-3886C>T c.3519+310G>A (n.3519+310G>A) c.3525+310G>A (n.3525+310G>A) c.3441+310G>A (n.3441+310G>A) c.3426+310G>A (n.3426+310G>A) c.3369+310G>A (n.3369+310G>A) c.3303+310G>A (n.3303+310G>A) c.2664+310G>A (n.2664+310G>A) c.3282+310G>A (n.3282+310G>A) | dbSNP |
9 | g.137818448G= | CA1884688544 | EHMT1 | c.3540+310G= (n.3540+310G=) n.26+310G= c.3447+310G= (n.3447+310G=) c.4114+310G= (n.4114+310G=) n.521+310G= c.1614+310G= (n.1614+310G=) c.2397+310G= (n.2397+310G=) n.1264+310G= n.893+310G= c.3531+310G= (n.3531+310G=) c.3522+310G= (n.3522+310G=) c.3549+310G= (n.3549+310G=) c.3546+310G= (n.3546+310G=) c.3528+310G= (n.3528+310G=) c.3471+310G= (n.3471+310G=) c.3405+310G= (n.3405+310G=) c.1971+310G= (n.1971+310G=) c.1323+310G= (n.1323+310G=) c.1110+310G= (n.1110+310G=) c.3384+310G= (n.3384+310G=) n.5297-3886C= c.3519+310G= (n.3519+310G=) c.3525+310G= (n.3525+310G=) c.3441+310G= (n.3441+310G=) c.3426+310G= (n.3426+310G=) c.3369+310G= (n.3369+310G=) c.3303+310G= (n.3303+310G=) c.2664+310G= (n.2664+310G=) c.3282+310G= (n.3282+310G=) | |
9 | g.137818449G>A | CA2786319788 | EHMT1 | c.3540+311G>A (n.3540+311G>A) n.26+311G>A c.3447+311G>A (n.3447+311G>A) c.4114+311G>A (n.4114+311G>A) n.521+311G>A c.1614+311G>A (n.1614+311G>A) c.2397+311G>A (n.2397+311G>A) n.1264+311G>A n.893+311G>A c.3531+311G>A (n.3531+311G>A) c.3522+311G>A (n.3522+311G>A) c.3549+311G>A (n.3549+311G>A) c.3546+311G>A (n.3546+311G>A) c.3528+311G>A (n.3528+311G>A) c.3471+311G>A (n.3471+311G>A) c.3405+311G>A (n.3405+311G>A) c.1971+311G>A (n.1971+311G>A) c.1323+311G>A (n.1323+311G>A) c.1110+311G>A (n.1110+311G>A) c.3384+311G>A (n.3384+311G>A) n.5297-3887C>T c.3519+311G>A (n.3519+311G>A) c.3525+311G>A (n.3525+311G>A) c.3441+311G>A (n.3441+311G>A) c.3426+311G>A (n.3426+311G>A) c.3369+311G>A (n.3369+311G>A) c.3303+311G>A (n.3303+311G>A) c.2664+311G>A (n.2664+311G>A) c.3282+311G>A (n.3282+311G>A) | |
9 | g.137818453C>A | CA861206445 | EHMT1 | c.3540+315C>A (n.3540+315C>A) n.26+315C>A c.3447+315C>A (n.3447+315C>A) c.4114+315C>A (n.4114+315C>A) n.521+315C>A c.1614+315C>A (n.1614+315C>A) c.2397+315C>A (n.2397+315C>A) n.1264+315C>A n.893+315C>A c.3531+315C>A (n.3531+315C>A) c.3522+315C>A (n.3522+315C>A) c.3549+315C>A (n.3549+315C>A) c.3546+315C>A (n.3546+315C>A) c.3528+315C>A (n.3528+315C>A) c.3471+315C>A (n.3471+315C>A) c.3405+315C>A (n.3405+315C>A) c.1971+315C>A (n.1971+315C>A) c.1323+315C>A (n.1323+315C>A) c.1110+315C>A (n.1110+315C>A) c.3384+315C>A (n.3384+315C>A) n.5297-3891G>T c.3519+315C>A (n.3519+315C>A) c.3525+315C>A (n.3525+315C>A) c.3441+315C>A (n.3441+315C>A) c.3426+315C>A (n.3426+315C>A) c.3369+315C>A (n.3369+315C>A) c.3303+315C>A (n.3303+315C>A) c.2664+315C>A (n.2664+315C>A) c.3282+315C>A (n.3282+315C>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818453C= | CA1884688546 | EHMT1 | c.3540+315C= (n.3540+315C=) n.26+315C= c.3447+315C= (n.3447+315C=) c.4114+315C= (n.4114+315C=) n.521+315C= c.1614+315C= (n.1614+315C=) c.2397+315C= (n.2397+315C=) n.1264+315C= n.893+315C= c.3531+315C= (n.3531+315C=) c.3522+315C= (n.3522+315C=) c.3549+315C= (n.3549+315C=) c.3546+315C= (n.3546+315C=) c.3528+315C= (n.3528+315C=) c.3471+315C= (n.3471+315C=) c.3405+315C= (n.3405+315C=) c.1971+315C= (n.1971+315C=) c.1323+315C= (n.1323+315C=) c.1110+315C= (n.1110+315C=) c.3384+315C= (n.3384+315C=) n.5297-3891G= c.3519+315C= (n.3519+315C=) c.3525+315C= (n.3525+315C=) c.3441+315C= (n.3441+315C=) c.3426+315C= (n.3426+315C=) c.3369+315C= (n.3369+315C=) c.3303+315C= (n.3303+315C=) c.2664+315C= (n.2664+315C=) c.3282+315C= (n.3282+315C=) | |
9 | g.137818453C>T | CA861206444 | EHMT1 | c.3540+315C>T (n.3540+315C>T) n.26+315C>T c.3447+315C>T (n.3447+315C>T) c.4114+315C>T (n.4114+315C>T) n.521+315C>T c.1614+315C>T (n.1614+315C>T) c.2397+315C>T (n.2397+315C>T) n.1264+315C>T n.893+315C>T c.3531+315C>T (n.3531+315C>T) c.3522+315C>T (n.3522+315C>T) c.3549+315C>T (n.3549+315C>T) c.3546+315C>T (n.3546+315C>T) c.3528+315C>T (n.3528+315C>T) c.3471+315C>T (n.3471+315C>T) c.3405+315C>T (n.3405+315C>T) c.1971+315C>T (n.1971+315C>T) c.1323+315C>T (n.1323+315C>T) c.1110+315C>T (n.1110+315C>T) c.3384+315C>T (n.3384+315C>T) n.5297-3891G>A c.3519+315C>T (n.3519+315C>T) c.3525+315C>T (n.3525+315C>T) c.3441+315C>T (n.3441+315C>T) c.3426+315C>T (n.3426+315C>T) c.3369+315C>T (n.3369+315C>T) c.3303+315C>T (n.3303+315C>T) c.2664+315C>T (n.2664+315C>T) c.3282+315C>T (n.3282+315C>T) | dbSNP |
9 | g.137818455C>T | CA2786319789 | EHMT1 | c.3540+317C>T (n.3540+317C>T) n.26+317C>T c.3447+317C>T (n.3447+317C>T) c.4114+317C>T (n.4114+317C>T) n.521+317C>T c.1614+317C>T (n.1614+317C>T) c.2397+317C>T (n.2397+317C>T) n.1264+317C>T n.893+317C>T c.3531+317C>T (n.3531+317C>T) c.3522+317C>T (n.3522+317C>T) c.3549+317C>T (n.3549+317C>T) c.3546+317C>T (n.3546+317C>T) c.3528+317C>T (n.3528+317C>T) c.3471+317C>T (n.3471+317C>T) c.3405+317C>T (n.3405+317C>T) c.1971+317C>T (n.1971+317C>T) c.1323+317C>T (n.1323+317C>T) c.1110+317C>T (n.1110+317C>T) c.3384+317C>T (n.3384+317C>T) n.5297-3893G>A c.3519+317C>T (n.3519+317C>T) c.3525+317C>T (n.3525+317C>T) c.3441+317C>T (n.3441+317C>T) c.3426+317C>T (n.3426+317C>T) c.3369+317C>T (n.3369+317C>T) c.3303+317C>T (n.3303+317C>T) c.2664+317C>T (n.2664+317C>T) c.3282+317C>T (n.3282+317C>T) | |
9 | g.137818455_137818457delinsCCT | CA1884688547 | EHMT1 | c.3540+317_3540+319delinsCCT (n.3540+317_3540+319delinsCCT) n.26+317_26+319delinsCCT c.3447+317_3447+319delinsCCT (n.3447+317_3447+319delinsCCT) c.4114+317_4114+319delinsCCT (n.4114+317_4114+319delinsCCT) n.521+317_521+319delinsCCT c.1614+317_1614+319delinsCCT (n.1614+317_1614+319delinsCCT) c.2397+317_2397+319delinsCCT (n.2397+317_2397+319delinsCCT) n.1264+317_1264+319delinsCCT n.893+317_893+319delinsCCT c.3531+317_3531+319delinsCCT (n.3531+317_3531+319delinsCCT) c.3522+317_3522+319delinsCCT (n.3522+317_3522+319delinsCCT) c.3549+317_3549+319delinsCCT (n.3549+317_3549+319delinsCCT) c.3546+317_3546+319delinsCCT (n.3546+317_3546+319delinsCCT) c.3528+317_3528+319delinsCCT (n.3528+317_3528+319delinsCCT) c.3471+317_3471+319delinsCCT (n.3471+317_3471+319delinsCCT) c.3405+317_3405+319delinsCCT (n.3405+317_3405+319delinsCCT) c.1971+317_1971+319delinsCCT (n.1971+317_1971+319delinsCCT) c.1323+317_1323+319delinsCCT (n.1323+317_1323+319delinsCCT) c.1110+317_1110+319delinsCCT (n.1110+317_1110+319delinsCCT) c.3384+317_3384+319delinsCCT (n.3384+317_3384+319delinsCCT) n.5297-3895_5297-3893delinsAGG c.3519+317_3519+319delinsCCT (n.3519+317_3519+319delinsCCT) c.3525+317_3525+319delinsCCT (n.3525+317_3525+319delinsCCT) c.3441+317_3441+319delinsCCT (n.3441+317_3441+319delinsCCT) c.3426+317_3426+319delinsCCT (n.3426+317_3426+319delinsCCT) c.3369+317_3369+319delinsCCT (n.3369+317_3369+319delinsCCT) c.3303+317_3303+319delinsCCT (n.3303+317_3303+319delinsCCT) c.2664+317_2664+319delinsCCT (n.2664+317_2664+319delinsCCT) c.3282+317_3282+319delinsCCT (n.3282+317_3282+319delinsCCT) | |
9 | g.137818456C= | CA1884688548 | EHMT1 | c.3540+318C= (n.3540+318C=) n.26+318C= c.3447+318C= (n.3447+318C=) c.4114+318C= (n.4114+318C=) n.521+318C= c.1614+318C= (n.1614+318C=) c.2397+318C= (n.2397+318C=) n.1264+318C= n.893+318C= c.3531+318C= (n.3531+318C=) c.3522+318C= (n.3522+318C=) c.3549+318C= (n.3549+318C=) c.3546+318C= (n.3546+318C=) c.3528+318C= (n.3528+318C=) c.3471+318C= (n.3471+318C=) c.3405+318C= (n.3405+318C=) c.1971+318C= (n.1971+318C=) c.1323+318C= (n.1323+318C=) c.1110+318C= (n.1110+318C=) c.3384+318C= (n.3384+318C=) n.5297-3894G= c.3519+318C= (n.3519+318C=) c.3525+318C= (n.3525+318C=) c.3441+318C= (n.3441+318C=) c.3426+318C= (n.3426+318C=) c.3369+318C= (n.3369+318C=) c.3303+318C= (n.3303+318C=) c.2664+318C= (n.2664+318C=) c.3282+318C= (n.3282+318C=) | |
9 | g.137818456C>T | CA1130164353 | EHMT1 | c.3540+318C>T (n.3540+318C>T) n.26+318C>T c.3447+318C>T (n.3447+318C>T) c.4114+318C>T (n.4114+318C>T) n.521+318C>T c.1614+318C>T (n.1614+318C>T) c.2397+318C>T (n.2397+318C>T) n.1264+318C>T n.893+318C>T c.3531+318C>T (n.3531+318C>T) c.3522+318C>T (n.3522+318C>T) c.3549+318C>T (n.3549+318C>T) c.3546+318C>T (n.3546+318C>T) c.3528+318C>T (n.3528+318C>T) c.3471+318C>T (n.3471+318C>T) c.3405+318C>T (n.3405+318C>T) c.1971+318C>T (n.1971+318C>T) c.1323+318C>T (n.1323+318C>T) c.1110+318C>T (n.1110+318C>T) c.3384+318C>T (n.3384+318C>T) n.5297-3894G>A c.3519+318C>T (n.3519+318C>T) c.3525+318C>T (n.3525+318C>T) c.3441+318C>T (n.3441+318C>T) c.3426+318C>T (n.3426+318C>T) c.3369+318C>T (n.3369+318C>T) c.3303+318C>T (n.3303+318C>T) c.2664+318C>T (n.2664+318C>T) c.3282+318C>T (n.3282+318C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818456_137818457del | CA591240807 | EHMT1 | c.3540+318_3540+319del (n.3540+318_3540+319del) n.26+318_26+319del c.3447+318_3447+319del (n.3447+318_3447+319del) c.4114+318_4114+319del (n.4114+318_4114+319del) n.521+318_521+319del c.1614+318_1614+319del (n.1614+318_1614+319del) c.2397+318_2397+319del (n.2397+318_2397+319del) n.1264+318_1264+319del n.893+318_893+319del c.3531+318_3531+319del (n.3531+318_3531+319del) c.3522+318_3522+319del (n.3522+318_3522+319del) c.3549+318_3549+319del (n.3549+318_3549+319del) c.3546+318_3546+319del (n.3546+318_3546+319del) c.3528+318_3528+319del (n.3528+318_3528+319del) c.3471+318_3471+319del (n.3471+318_3471+319del) c.3405+318_3405+319del (n.3405+318_3405+319del) c.1971+318_1971+319del (n.1971+318_1971+319del) c.1323+318_1323+319del (n.1323+318_1323+319del) c.1110+318_1110+319del (n.1110+318_1110+319del) c.3384+318_3384+319del (n.3384+318_3384+319del) n.5297-3895_5297-3894del c.3519+318_3519+319del (n.3519+318_3519+319del) c.3525+318_3525+319del (n.3525+318_3525+319del) c.3441+318_3441+319del (n.3441+318_3441+319del) c.3426+318_3426+319del (n.3426+318_3426+319del) c.3369+318_3369+319del (n.3369+318_3369+319del) c.3303+318_3303+319del (n.3303+318_3303+319del) c.2664+318_2664+319del (n.2664+318_2664+319del) c.3282+318_3282+319del (n.3282+318_3282+319del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818456_137818457delinsCT | CA1884688549 | EHMT1 | c.3540+318_3540+319delinsCT (n.3540+318_3540+319delinsCT) n.26+318_26+319delinsCT c.3447+318_3447+319delinsCT (n.3447+318_3447+319delinsCT) c.4114+318_4114+319delinsCT (n.4114+318_4114+319delinsCT) n.521+318_521+319delinsCT c.1614+318_1614+319delinsCT (n.1614+318_1614+319delinsCT) c.2397+318_2397+319delinsCT (n.2397+318_2397+319delinsCT) n.1264+318_1264+319delinsCT n.893+318_893+319delinsCT c.3531+318_3531+319delinsCT (n.3531+318_3531+319delinsCT) c.3522+318_3522+319delinsCT (n.3522+318_3522+319delinsCT) c.3549+318_3549+319delinsCT (n.3549+318_3549+319delinsCT) c.3546+318_3546+319delinsCT (n.3546+318_3546+319delinsCT) c.3528+318_3528+319delinsCT (n.3528+318_3528+319delinsCT) c.3471+318_3471+319delinsCT (n.3471+318_3471+319delinsCT) c.3405+318_3405+319delinsCT (n.3405+318_3405+319delinsCT) c.1971+318_1971+319delinsCT (n.1971+318_1971+319delinsCT) c.1323+318_1323+319delinsCT (n.1323+318_1323+319delinsCT) c.1110+318_1110+319delinsCT (n.1110+318_1110+319delinsCT) c.3384+318_3384+319delinsCT (n.3384+318_3384+319delinsCT) n.5297-3895_5297-3894delinsAG c.3519+318_3519+319delinsCT (n.3519+318_3519+319delinsCT) c.3525+318_3525+319delinsCT (n.3525+318_3525+319delinsCT) c.3441+318_3441+319delinsCT (n.3441+318_3441+319delinsCT) c.3426+318_3426+319delinsCT (n.3426+318_3426+319delinsCT) c.3369+318_3369+319delinsCT (n.3369+318_3369+319delinsCT) c.3303+318_3303+319delinsCT (n.3303+318_3303+319delinsCT) c.2664+318_2664+319delinsCT (n.2664+318_2664+319delinsCT) c.3282+318_3282+319delinsCT (n.3282+318_3282+319delinsCT) | |
9 | g.137818457del | CA1884688550 | EHMT1 | c.3540+319del (n.3540+319del) n.26+319del c.3447+319del (n.3447+319del) c.4114+319del (n.4114+319del) n.521+319del c.1614+319del (n.1614+319del) c.2397+319del (n.2397+319del) n.1264+319del n.893+319del c.3531+319del (n.3531+319del) c.3522+319del (n.3522+319del) c.3549+319del (n.3549+319del) c.3546+319del (n.3546+319del) c.3528+319del (n.3528+319del) c.3471+319del (n.3471+319del) c.3405+319del (n.3405+319del) c.1971+319del (n.1971+319del) c.1323+319del (n.1323+319del) c.1110+319del (n.1110+319del) c.3384+319del (n.3384+319del) n.5297-3895del c.3519+319del (n.3519+319del) c.3525+319del (n.3525+319del) c.3441+319del (n.3441+319del) c.3426+319del (n.3426+319del) c.3369+319del (n.3369+319del) c.3303+319del (n.3303+319del) c.2664+319del (n.2664+319del) c.3282+319del (n.3282+319del) | dbSNP |
9 | g.137818457T>C | CA861206447 | EHMT1 | c.3540+319T>C (n.3540+319T>C) n.26+319T>C c.3447+319T>C (n.3447+319T>C) c.4114+319T>C (n.4114+319T>C) n.521+319T>C c.1614+319T>C (n.1614+319T>C) c.2397+319T>C (n.2397+319T>C) n.1264+319T>C n.893+319T>C c.3531+319T>C (n.3531+319T>C) c.3522+319T>C (n.3522+319T>C) c.3549+319T>C (n.3549+319T>C) c.3546+319T>C (n.3546+319T>C) c.3528+319T>C (n.3528+319T>C) c.3471+319T>C (n.3471+319T>C) c.3405+319T>C (n.3405+319T>C) c.1971+319T>C (n.1971+319T>C) c.1323+319T>C (n.1323+319T>C) c.1110+319T>C (n.1110+319T>C) c.3384+319T>C (n.3384+319T>C) n.5297-3895A>G c.3519+319T>C (n.3519+319T>C) c.3525+319T>C (n.3525+319T>C) c.3441+319T>C (n.3441+319T>C) c.3426+319T>C (n.3426+319T>C) c.3369+319T>C (n.3369+319T>C) c.3303+319T>C (n.3303+319T>C) c.2664+319T>C (n.2664+319T>C) c.3282+319T>C (n.3282+319T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818457T= | CA1884688551 | EHMT1 | c.3540+319T= (n.3540+319T=) n.26+319T= c.3447+319T= (n.3447+319T=) c.4114+319T= (n.4114+319T=) n.521+319T= c.1614+319T= (n.1614+319T=) c.2397+319T= (n.2397+319T=) n.1264+319T= n.893+319T= c.3531+319T= (n.3531+319T=) c.3522+319T= (n.3522+319T=) c.3549+319T= (n.3549+319T=) c.3546+319T= (n.3546+319T=) c.3528+319T= (n.3528+319T=) c.3471+319T= (n.3471+319T=) c.3405+319T= (n.3405+319T=) c.1971+319T= (n.1971+319T=) c.1323+319T= (n.1323+319T=) c.1110+319T= (n.1110+319T=) c.3384+319T= (n.3384+319T=) n.5297-3895A= c.3519+319T= (n.3519+319T=) c.3525+319T= (n.3525+319T=) c.3441+319T= (n.3441+319T=) c.3426+319T= (n.3426+319T=) c.3369+319T= (n.3369+319T=) c.3303+319T= (n.3303+319T=) c.2664+319T= (n.2664+319T=) c.3282+319T= (n.3282+319T=) | |
9 | g.137818463T>C | CA201800601 | EHMT1 | c.3540+325T>C (n.3540+325T>C) n.26+325T>C c.3447+325T>C (n.3447+325T>C) c.4114+325T>C (n.4114+325T>C) n.521+325T>C c.1614+325T>C (n.1614+325T>C) c.2397+325T>C (n.2397+325T>C) n.1264+325T>C n.893+325T>C c.3531+325T>C (n.3531+325T>C) c.3522+325T>C (n.3522+325T>C) c.3549+325T>C (n.3549+325T>C) c.3546+325T>C (n.3546+325T>C) c.3528+325T>C (n.3528+325T>C) c.3471+325T>C (n.3471+325T>C) c.3405+325T>C (n.3405+325T>C) c.1971+325T>C (n.1971+325T>C) c.1323+325T>C (n.1323+325T>C) c.1110+325T>C (n.1110+325T>C) c.3384+325T>C (n.3384+325T>C) n.5297-3901A>G c.3519+325T>C (n.3519+325T>C) c.3525+325T>C (n.3525+325T>C) c.3441+325T>C (n.3441+325T>C) c.3426+325T>C (n.3426+325T>C) c.3369+325T>C (n.3369+325T>C) c.3303+325T>C (n.3303+325T>C) c.2664+325T>C (n.2664+325T>C) c.3282+325T>C (n.3282+325T>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818463T= | CA1884688552 | EHMT1 | c.3540+325T= (n.3540+325T=) n.26+325T= c.3447+325T= (n.3447+325T=) c.4114+325T= (n.4114+325T=) n.521+325T= c.1614+325T= (n.1614+325T=) c.2397+325T= (n.2397+325T=) n.1264+325T= n.893+325T= c.3531+325T= (n.3531+325T=) c.3522+325T= (n.3522+325T=) c.3549+325T= (n.3549+325T=) c.3546+325T= (n.3546+325T=) c.3528+325T= (n.3528+325T=) c.3471+325T= (n.3471+325T=) c.3405+325T= (n.3405+325T=) c.1971+325T= (n.1971+325T=) c.1323+325T= (n.1323+325T=) c.1110+325T= (n.1110+325T=) c.3384+325T= (n.3384+325T=) n.5297-3901A= c.3519+325T= (n.3519+325T=) c.3525+325T= (n.3525+325T=) c.3441+325T= (n.3441+325T=) c.3426+325T= (n.3426+325T=) c.3369+325T= (n.3369+325T=) c.3303+325T= (n.3303+325T=) c.2664+325T= (n.2664+325T=) c.3282+325T= (n.3282+325T=) | |
9 | g.137818464_137818466delinsGCA | CA1884688553 | EHMT1 | c.3540+326_3540+328delinsGCA (n.3540+326_3540+328delinsGCA) n.26+326_26+328delinsGCA c.3447+326_3447+328delinsGCA (n.3447+326_3447+328delinsGCA) c.4114+326_4114+328delinsGCA (n.4114+326_4114+328delinsGCA) n.521+326_521+328delinsGCA c.1614+326_1614+328delinsGCA (n.1614+326_1614+328delinsGCA) c.2397+326_2397+328delinsGCA (n.2397+326_2397+328delinsGCA) n.1264+326_1264+328delinsGCA n.893+326_893+328delinsGCA c.3531+326_3531+328delinsGCA (n.3531+326_3531+328delinsGCA) c.3522+326_3522+328delinsGCA (n.3522+326_3522+328delinsGCA) c.3549+326_3549+328delinsGCA (n.3549+326_3549+328delinsGCA) c.3546+326_3546+328delinsGCA (n.3546+326_3546+328delinsGCA) c.3528+326_3528+328delinsGCA (n.3528+326_3528+328delinsGCA) c.3471+326_3471+328delinsGCA (n.3471+326_3471+328delinsGCA) c.3405+326_3405+328delinsGCA (n.3405+326_3405+328delinsGCA) c.1971+326_1971+328delinsGCA (n.1971+326_1971+328delinsGCA) c.1323+326_1323+328delinsGCA (n.1323+326_1323+328delinsGCA) c.1110+326_1110+328delinsGCA (n.1110+326_1110+328delinsGCA) c.3384+326_3384+328delinsGCA (n.3384+326_3384+328delinsGCA) n.5297-3904_5297-3902delinsTGC c.3519+326_3519+328delinsGCA (n.3519+326_3519+328delinsGCA) c.3525+326_3525+328delinsGCA (n.3525+326_3525+328delinsGCA) c.3441+326_3441+328delinsGCA (n.3441+326_3441+328delinsGCA) c.3426+326_3426+328delinsGCA (n.3426+326_3426+328delinsGCA) c.3369+326_3369+328delinsGCA (n.3369+326_3369+328delinsGCA) c.3303+326_3303+328delinsGCA (n.3303+326_3303+328delinsGCA) c.2664+326_2664+328delinsGCA (n.2664+326_2664+328delinsGCA) c.3282+326_3282+328delinsGCA (n.3282+326_3282+328delinsGCA) | |
9 | g.137818465C>T | CA2721041043 | EHMT1 | c.3540+327C>T (n.3540+327C>T) n.26+327C>T c.3447+327C>T (n.3447+327C>T) c.4114+327C>T (n.4114+327C>T) n.521+327C>T c.1614+327C>T (n.1614+327C>T) c.2397+327C>T (n.2397+327C>T) n.1264+327C>T n.893+327C>T c.3531+327C>T (n.3531+327C>T) c.3522+327C>T (n.3522+327C>T) c.3549+327C>T (n.3549+327C>T) c.3546+327C>T (n.3546+327C>T) c.3528+327C>T (n.3528+327C>T) c.3471+327C>T (n.3471+327C>T) c.3405+327C>T (n.3405+327C>T) c.1971+327C>T (n.1971+327C>T) c.1323+327C>T (n.1323+327C>T) c.1110+327C>T (n.1110+327C>T) c.3384+327C>T (n.3384+327C>T) n.5297-3903G>A c.3519+327C>T (n.3519+327C>T) c.3525+327C>T (n.3525+327C>T) c.3441+327C>T (n.3441+327C>T) c.3426+327C>T (n.3426+327C>T) c.3369+327C>T (n.3369+327C>T) c.3303+327C>T (n.3303+327C>T) c.2664+327C>T (n.2664+327C>T) c.3282+327C>T (n.3282+327C>T) | dbSNP |
9 | g.137818467_137818468del | CA1884688554 | EHMT1 | c.3540+329_3540+330del (n.3540+329_3540+330del) n.26+329_26+330del c.3447+329_3447+330del (n.3447+329_3447+330del) c.4114+329_4114+330del (n.4114+329_4114+330del) n.521+329_521+330del c.1614+329_1614+330del (n.1614+329_1614+330del) c.2397+329_2397+330del (n.2397+329_2397+330del) n.1264+329_1264+330del n.893+329_893+330del c.3531+329_3531+330del (n.3531+329_3531+330del) c.3522+329_3522+330del (n.3522+329_3522+330del) c.3549+329_3549+330del (n.3549+329_3549+330del) c.3546+329_3546+330del (n.3546+329_3546+330del) c.3528+329_3528+330del (n.3528+329_3528+330del) c.3471+329_3471+330del (n.3471+329_3471+330del) c.3405+329_3405+330del (n.3405+329_3405+330del) c.1971+329_1971+330del (n.1971+329_1971+330del) c.1323+329_1323+330del (n.1323+329_1323+330del) c.1110+329_1110+330del (n.1110+329_1110+330del) c.3384+329_3384+330del (n.3384+329_3384+330del) n.5297-3904_5297-3903del c.3519+329_3519+330del (n.3519+329_3519+330del) c.3525+329_3525+330del (n.3525+329_3525+330del) c.3441+329_3441+330del (n.3441+329_3441+330del) c.3426+329_3426+330del (n.3426+329_3426+330del) c.3369+329_3369+330del (n.3369+329_3369+330del) c.3303+329_3303+330del (n.3303+329_3303+330del) c.2664+329_2664+330del (n.2664+329_2664+330del) c.3282+329_3282+330del (n.3282+329_3282+330del) | dbSNP |
9 | g.137818466A= | CA1884688555 | EHMT1 | c.3540+328A= (n.3540+328A=) n.26+328A= c.3447+328A= (n.3447+328A=) c.4114+328A= (n.4114+328A=) n.521+328A= c.1614+328A= (n.1614+328A=) c.2397+328A= (n.2397+328A=) n.1264+328A= n.893+328A= c.3531+328A= (n.3531+328A=) c.3522+328A= (n.3522+328A=) c.3549+328A= (n.3549+328A=) c.3546+328A= (n.3546+328A=) c.3528+328A= (n.3528+328A=) c.3471+328A= (n.3471+328A=) c.3405+328A= (n.3405+328A=) c.1971+328A= (n.1971+328A=) c.1323+328A= (n.1323+328A=) c.1110+328A= (n.1110+328A=) c.3384+328A= (n.3384+328A=) n.5297-3904T= c.3519+328A= (n.3519+328A=) c.3525+328A= (n.3525+328A=) c.3441+328A= (n.3441+328A=) c.3426+328A= (n.3426+328A=) c.3369+328A= (n.3369+328A=) c.3303+328A= (n.3303+328A=) c.2664+328A= (n.2664+328A=) c.3282+328A= (n.3282+328A=) | |
9 | g.137818466A>G | CA201800606 | EHMT1 | c.3540+328A>G (n.3540+328A>G) n.26+328A>G c.3447+328A>G (n.3447+328A>G) c.4114+328A>G (n.4114+328A>G) n.521+328A>G c.1614+328A>G (n.1614+328A>G) c.2397+328A>G (n.2397+328A>G) n.1264+328A>G n.893+328A>G c.3531+328A>G (n.3531+328A>G) c.3522+328A>G (n.3522+328A>G) c.3549+328A>G (n.3549+328A>G) c.3546+328A>G (n.3546+328A>G) c.3528+328A>G (n.3528+328A>G) c.3471+328A>G (n.3471+328A>G) c.3405+328A>G (n.3405+328A>G) c.1971+328A>G (n.1971+328A>G) c.1323+328A>G (n.1323+328A>G) c.1110+328A>G (n.1110+328A>G) c.3384+328A>G (n.3384+328A>G) n.5297-3904T>C c.3519+328A>G (n.3519+328A>G) c.3525+328A>G (n.3525+328A>G) c.3441+328A>G (n.3441+328A>G) c.3426+328A>G (n.3426+328A>G) c.3369+328A>G (n.3369+328A>G) c.3303+328A>G (n.3303+328A>G) c.2664+328A>G (n.2664+328A>G) c.3282+328A>G (n.3282+328A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818467C= | CA1884688556 | EHMT1 | c.3540+329C= (n.3540+329C=) n.26+329C= c.3447+329C= (n.3447+329C=) c.4114+329C= (n.4114+329C=) n.521+329C= c.1614+329C= (n.1614+329C=) c.2397+329C= (n.2397+329C=) n.1264+329C= n.893+329C= c.3531+329C= (n.3531+329C=) c.3522+329C= (n.3522+329C=) c.3549+329C= (n.3549+329C=) c.3546+329C= (n.3546+329C=) c.3528+329C= (n.3528+329C=) c.3471+329C= (n.3471+329C=) c.3405+329C= (n.3405+329C=) c.1971+329C= (n.1971+329C=) c.1323+329C= (n.1323+329C=) c.1110+329C= (n.1110+329C=) c.3384+329C= (n.3384+329C=) n.5297-3905G= c.3519+329C= (n.3519+329C=) c.3525+329C= (n.3525+329C=) c.3441+329C= (n.3441+329C=) c.3426+329C= (n.3426+329C=) c.3369+329C= (n.3369+329C=) c.3303+329C= (n.3303+329C=) c.2664+329C= (n.2664+329C=) c.3282+329C= (n.3282+329C=) | |
9 | g.137818467C>G | CA1884688557 | EHMT1 | c.3540+329C>G (n.3540+329C>G) n.26+329C>G c.3447+329C>G (n.3447+329C>G) c.4114+329C>G (n.4114+329C>G) n.521+329C>G c.1614+329C>G (n.1614+329C>G) c.2397+329C>G (n.2397+329C>G) n.1264+329C>G n.893+329C>G c.3531+329C>G (n.3531+329C>G) c.3522+329C>G (n.3522+329C>G) c.3549+329C>G (n.3549+329C>G) c.3546+329C>G (n.3546+329C>G) c.3528+329C>G (n.3528+329C>G) c.3471+329C>G (n.3471+329C>G) c.3405+329C>G (n.3405+329C>G) c.1971+329C>G (n.1971+329C>G) c.1323+329C>G (n.1323+329C>G) c.1110+329C>G (n.1110+329C>G) c.3384+329C>G (n.3384+329C>G) n.5297-3905G>C c.3519+329C>G (n.3519+329C>G) c.3525+329C>G (n.3525+329C>G) c.3441+329C>G (n.3441+329C>G) c.3426+329C>G (n.3426+329C>G) c.3369+329C>G (n.3369+329C>G) c.3303+329C>G (n.3303+329C>G) c.2664+329C>G (n.2664+329C>G) c.3282+329C>G (n.3282+329C>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818470_137818471delinsAG | CA1884688558 | EHMT1 | c.3540+332_3540+333delinsAG (n.3540+332_3540+333delinsAG) n.26+332_26+333delinsAG c.3447+332_3447+333delinsAG (n.3447+332_3447+333delinsAG) c.4114+332_4114+333delinsAG (n.4114+332_4114+333delinsAG) n.521+332_521+333delinsAG c.1614+332_1614+333delinsAG (n.1614+332_1614+333delinsAG) c.2397+332_2397+333delinsAG (n.2397+332_2397+333delinsAG) n.1264+332_1264+333delinsAG n.893+332_893+333delinsAG c.3531+332_3531+333delinsAG (n.3531+332_3531+333delinsAG) c.3522+332_3522+333delinsAG (n.3522+332_3522+333delinsAG) c.3549+332_3549+333delinsAG (n.3549+332_3549+333delinsAG) c.3546+332_3546+333delinsAG (n.3546+332_3546+333delinsAG) c.3528+332_3528+333delinsAG (n.3528+332_3528+333delinsAG) c.3471+332_3471+333delinsAG (n.3471+332_3471+333delinsAG) c.3405+332_3405+333delinsAG (n.3405+332_3405+333delinsAG) c.1971+332_1971+333delinsAG (n.1971+332_1971+333delinsAG) c.1323+332_1323+333delinsAG (n.1323+332_1323+333delinsAG) c.1110+332_1110+333delinsAG (n.1110+332_1110+333delinsAG) c.3384+332_3384+333delinsAG (n.3384+332_3384+333delinsAG) n.5297-3909_5297-3908delinsCT c.3519+332_3519+333delinsAG (n.3519+332_3519+333delinsAG) c.3525+332_3525+333delinsAG (n.3525+332_3525+333delinsAG) c.3441+332_3441+333delinsAG (n.3441+332_3441+333delinsAG) c.3426+332_3426+333delinsAG (n.3426+332_3426+333delinsAG) c.3369+332_3369+333delinsAG (n.3369+332_3369+333delinsAG) c.3303+332_3303+333delinsAG (n.3303+332_3303+333delinsAG) c.2664+332_2664+333delinsAG (n.2664+332_2664+333delinsAG) c.3282+332_3282+333delinsAG (n.3282+332_3282+333delinsAG) | |
9 | g.137818471G>A | CA1884688559 | EHMT1 | c.3540+333G>A (n.3540+333G>A) n.26+333G>A c.3447+333G>A (n.3447+333G>A) c.4114+333G>A (n.4114+333G>A) n.521+333G>A c.1614+333G>A (n.1614+333G>A) c.2397+333G>A (n.2397+333G>A) n.1264+333G>A n.893+333G>A c.3531+333G>A (n.3531+333G>A) c.3522+333G>A (n.3522+333G>A) c.3549+333G>A (n.3549+333G>A) c.3546+333G>A (n.3546+333G>A) c.3528+333G>A (n.3528+333G>A) c.3471+333G>A (n.3471+333G>A) c.3405+333G>A (n.3405+333G>A) c.1971+333G>A (n.1971+333G>A) c.1323+333G>A (n.1323+333G>A) c.1110+333G>A (n.1110+333G>A) c.3384+333G>A (n.3384+333G>A) n.5297-3909C>T c.3519+333G>A (n.3519+333G>A) c.3525+333G>A (n.3525+333G>A) c.3441+333G>A (n.3441+333G>A) c.3426+333G>A (n.3426+333G>A) c.3369+333G>A (n.3369+333G>A) c.3303+333G>A (n.3303+333G>A) c.2664+333G>A (n.2664+333G>A) c.3282+333G>A (n.3282+333G>A) | dbSNP |
9 | g.137818471G= | CA1884688560 | EHMT1 | c.3540+333G= (n.3540+333G=) n.26+333G= c.3447+333G= (n.3447+333G=) c.4114+333G= (n.4114+333G=) n.521+333G= c.1614+333G= (n.1614+333G=) c.2397+333G= (n.2397+333G=) n.1264+333G= n.893+333G= c.3531+333G= (n.3531+333G=) c.3522+333G= (n.3522+333G=) c.3549+333G= (n.3549+333G=) c.3546+333G= (n.3546+333G=) c.3528+333G= (n.3528+333G=) c.3471+333G= (n.3471+333G=) c.3405+333G= (n.3405+333G=) c.1971+333G= (n.1971+333G=) c.1323+333G= (n.1323+333G=) c.1110+333G= (n.1110+333G=) c.3384+333G= (n.3384+333G=) n.5297-3909C= c.3519+333G= (n.3519+333G=) c.3525+333G= (n.3525+333G=) c.3441+333G= (n.3441+333G=) c.3426+333G= (n.3426+333G=) c.3369+333G= (n.3369+333G=) c.3303+333G= (n.3303+333G=) c.2664+333G= (n.2664+333G=) c.3282+333G= (n.3282+333G=) | |
9 | g.137818472del | CA1884688561 | EHMT1 | c.3540+334del (n.3540+334del) n.26+334del c.3447+334del (n.3447+334del) c.4114+334del (n.4114+334del) n.521+334del c.1614+334del (n.1614+334del) c.2397+334del (n.2397+334del) n.1264+334del n.893+334del c.3531+334del (n.3531+334del) c.3522+334del (n.3522+334del) c.3549+334del (n.3549+334del) c.3546+334del (n.3546+334del) c.3528+334del (n.3528+334del) c.3471+334del (n.3471+334del) c.3405+334del (n.3405+334del) c.1971+334del (n.1971+334del) c.1323+334del (n.1323+334del) c.1110+334del (n.1110+334del) c.3384+334del (n.3384+334del) n.5297-3909del c.3519+334del (n.3519+334del) c.3525+334del (n.3525+334del) c.3441+334del (n.3441+334del) c.3426+334del (n.3426+334del) c.3369+334del (n.3369+334del) c.3303+334del (n.3303+334del) c.2664+334del (n.2664+334del) c.3282+334del (n.3282+334del) | dbSNP |
9 | g.137818472_137818473insCCGAT | CA2603986827 | EHMT1 | c.3540+334_3540+335insCCGAT (n.3540+334_3540+335insCCGAT) n.26+334_26+335insCCGAT c.3447+334_3447+335insCCGAT (n.3447+334_3447+335insCCGAT) c.4114+334_4114+335insCCGAT (n.4114+334_4114+335insCCGAT) n.521+334_521+335insCCGAT c.1614+334_1614+335insCCGAT (n.1614+334_1614+335insCCGAT) c.2397+334_2397+335insCCGAT (n.2397+334_2397+335insCCGAT) n.1264+334_1264+335insCCGAT n.893+334_893+335insCCGAT c.3531+334_3531+335insCCGAT (n.3531+334_3531+335insCCGAT) c.3522+334_3522+335insCCGAT (n.3522+334_3522+335insCCGAT) c.3549+334_3549+335insCCGAT (n.3549+334_3549+335insCCGAT) c.3546+334_3546+335insCCGAT (n.3546+334_3546+335insCCGAT) c.3528+334_3528+335insCCGAT (n.3528+334_3528+335insCCGAT) c.3471+334_3471+335insCCGAT (n.3471+334_3471+335insCCGAT) c.3405+334_3405+335insCCGAT (n.3405+334_3405+335insCCGAT) c.1971+334_1971+335insCCGAT (n.1971+334_1971+335insCCGAT) c.1323+334_1323+335insCCGAT (n.1323+334_1323+335insCCGAT) c.1110+334_1110+335insCCGAT (n.1110+334_1110+335insCCGAT) c.3384+334_3384+335insCCGAT (n.3384+334_3384+335insCCGAT) n.5297-3911_5297-3910insATCGG c.3519+334_3519+335insCCGAT (n.3519+334_3519+335insCCGAT) c.3525+334_3525+335insCCGAT (n.3525+334_3525+335insCCGAT) c.3441+334_3441+335insCCGAT (n.3441+334_3441+335insCCGAT) c.3426+334_3426+335insCCGAT (n.3426+334_3426+335insCCGAT) c.3369+334_3369+335insCCGAT (n.3369+334_3369+335insCCGAT) c.3303+334_3303+335insCCGAT (n.3303+334_3303+335insCCGAT) c.2664+334_2664+335insCCGAT (n.2664+334_2664+335insCCGAT) c.3282+334_3282+335insCCGAT (n.3282+334_3282+335insCCGAT) | gnomAD v3 gnomAD v4 |
9 | g.137818473T>C | CA861206448 | EHMT1 | c.3540+335T>C (n.3540+335T>C) n.26+335T>C c.3447+335T>C (n.3447+335T>C) c.4114+335T>C (n.4114+335T>C) n.521+335T>C c.1614+335T>C (n.1614+335T>C) c.2397+335T>C (n.2397+335T>C) n.1264+335T>C n.893+335T>C c.3531+335T>C (n.3531+335T>C) c.3522+335T>C (n.3522+335T>C) c.3549+335T>C (n.3549+335T>C) c.3546+335T>C (n.3546+335T>C) c.3528+335T>C (n.3528+335T>C) c.3471+335T>C (n.3471+335T>C) c.3405+335T>C (n.3405+335T>C) c.1971+335T>C (n.1971+335T>C) c.1323+335T>C (n.1323+335T>C) c.1110+335T>C (n.1110+335T>C) c.3384+335T>C (n.3384+335T>C) n.5297-3911A>G c.3519+335T>C (n.3519+335T>C) c.3525+335T>C (n.3525+335T>C) c.3441+335T>C (n.3441+335T>C) c.3426+335T>C (n.3426+335T>C) c.3369+335T>C (n.3369+335T>C) c.3303+335T>C (n.3303+335T>C) c.2664+335T>C (n.2664+335T>C) c.3282+335T>C (n.3282+335T>C) | dbSNP |
9 | g.137818473T= | CA1884688562 | EHMT1 | c.3540+335T= (n.3540+335T=) n.26+335T= c.3447+335T= (n.3447+335T=) c.4114+335T= (n.4114+335T=) n.521+335T= c.1614+335T= (n.1614+335T=) c.2397+335T= (n.2397+335T=) n.1264+335T= n.893+335T= c.3531+335T= (n.3531+335T=) c.3522+335T= (n.3522+335T=) c.3549+335T= (n.3549+335T=) c.3546+335T= (n.3546+335T=) c.3528+335T= (n.3528+335T=) c.3471+335T= (n.3471+335T=) c.3405+335T= (n.3405+335T=) c.1971+335T= (n.1971+335T=) c.1323+335T= (n.1323+335T=) c.1110+335T= (n.1110+335T=) c.3384+335T= (n.3384+335T=) n.5297-3911A= c.3519+335T= (n.3519+335T=) c.3525+335T= (n.3525+335T=) c.3441+335T= (n.3441+335T=) c.3426+335T= (n.3426+335T=) c.3369+335T= (n.3369+335T=) c.3303+335T= (n.3303+335T=) c.2664+335T= (n.2664+335T=) c.3282+335T= (n.3282+335T=) | |
9 | g.137818476del | CA2603986828 | EHMT1 | c.3540+338del (n.3540+338del) n.26+338del c.3447+338del (n.3447+338del) c.4114+338del (n.4114+338del) n.521+338del c.1614+338del (n.1614+338del) c.2397+338del (n.2397+338del) n.1264+338del n.893+338del c.3531+338del (n.3531+338del) c.3522+338del (n.3522+338del) c.3549+338del (n.3549+338del) c.3546+338del (n.3546+338del) c.3528+338del (n.3528+338del) c.3471+338del (n.3471+338del) c.3405+338del (n.3405+338del) c.1971+338del (n.1971+338del) c.1323+338del (n.1323+338del) c.1110+338del (n.1110+338del) c.3384+338del (n.3384+338del) n.5297-3913del c.3519+338del (n.3519+338del) c.3525+338del (n.3525+338del) c.3441+338del (n.3441+338del) c.3426+338del (n.3426+338del) c.3369+338del (n.3369+338del) c.3303+338del (n.3303+338del) c.2664+338del (n.2664+338del) c.3282+338del (n.3282+338del) | gnomAD v3 gnomAD v4 |
9 | g.137818475_137818512delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG | CA1884688563 | EHMT1 | c.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3540+337_3540+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.26+337_26+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG c.3447+337_3447+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3447+337_3447+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.4114+337_4114+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.4114+337_4114+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.521+337_521+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG c.1614+337_1614+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1614+337_1614+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.2397+337_2397+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.2397+337_2397+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.1264+337_1264+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG n.893+337_893+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG c.3531+337_3531+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3531+337_3531+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3522+337_3522+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3522+337_3522+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3549+337_3549+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3549+337_3549+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3546+337_3546+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3546+337_3546+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3528+337_3528+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3528+337_3528+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3471+337_3471+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3471+337_3471+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3405+337_3405+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3405+337_3405+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.1971+337_1971+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1971+337_1971+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.1323+337_1323+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1323+337_1323+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.1110+337_1110+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1110+337_1110+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3384+337_3384+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3384+337_3384+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.5297-3950_5297-3913delinsCAGCCTCTCTACAGTCTTGGTACACGGCGCCCGTCCTT c.3519+337_3519+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3519+337_3519+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3525+337_3525+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3525+337_3525+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3441+337_3441+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3441+337_3441+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3426+337_3426+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3426+337_3426+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3369+337_3369+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3369+337_3369+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3303+337_3303+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3303+337_3303+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.2664+337_2664+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.2664+337_2664+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3282+337_3282+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3282+337_3282+374delinsAAGGACGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) | |
9 | g.137818476A= | CA1884688564 | EHMT1 | c.3540+338A= (n.3540+338A=) n.26+338A= c.3447+338A= (n.3447+338A=) c.4114+338A= (n.4114+338A=) n.521+338A= c.1614+338A= (n.1614+338A=) c.2397+338A= (n.2397+338A=) n.1264+338A= n.893+338A= c.3531+338A= (n.3531+338A=) c.3522+338A= (n.3522+338A=) c.3549+338A= (n.3549+338A=) c.3546+338A= (n.3546+338A=) c.3528+338A= (n.3528+338A=) c.3471+338A= (n.3471+338A=) c.3405+338A= (n.3405+338A=) c.1971+338A= (n.1971+338A=) c.1323+338A= (n.1323+338A=) c.1110+338A= (n.1110+338A=) c.3384+338A= (n.3384+338A=) n.5297-3914T= c.3519+338A= (n.3519+338A=) c.3525+338A= (n.3525+338A=) c.3441+338A= (n.3441+338A=) c.3426+338A= (n.3426+338A=) c.3369+338A= (n.3369+338A=) c.3303+338A= (n.3303+338A=) c.2664+338A= (n.2664+338A=) c.3282+338A= (n.3282+338A=) | |
9 | g.137818476A>T | CA861206449 | EHMT1 | c.3540+338A>T (n.3540+338A>T) n.26+338A>T c.3447+338A>T (n.3447+338A>T) c.4114+338A>T (n.4114+338A>T) n.521+338A>T c.1614+338A>T (n.1614+338A>T) c.2397+338A>T (n.2397+338A>T) n.1264+338A>T n.893+338A>T c.3531+338A>T (n.3531+338A>T) c.3522+338A>T (n.3522+338A>T) c.3549+338A>T (n.3549+338A>T) c.3546+338A>T (n.3546+338A>T) c.3528+338A>T (n.3528+338A>T) c.3471+338A>T (n.3471+338A>T) c.3405+338A>T (n.3405+338A>T) c.1971+338A>T (n.1971+338A>T) c.1323+338A>T (n.1323+338A>T) c.1110+338A>T (n.1110+338A>T) c.3384+338A>T (n.3384+338A>T) n.5297-3914T>A c.3519+338A>T (n.3519+338A>T) c.3525+338A>T (n.3525+338A>T) c.3441+338A>T (n.3441+338A>T) c.3426+338A>T (n.3426+338A>T) c.3369+338A>T (n.3369+338A>T) c.3303+338A>T (n.3303+338A>T) c.2664+338A>T (n.2664+338A>T) c.3282+338A>T (n.3282+338A>T) | dbSNP |
9 | g.137818479_137818515del | CA591240811 | EHMT1 | c.3540+341_3540+377del (n.3540+341_3540+377del) n.26+341_26+377del c.3447+341_3447+377del (n.3447+341_3447+377del) c.4114+341_4114+377del (n.4114+341_4114+377del) n.521+341_521+377del c.1614+341_1614+377del (n.1614+341_1614+377del) c.2397+341_2397+377del (n.2397+341_2397+377del) n.1264+341_1264+377del n.893+341_893+377del c.3531+341_3531+377del (n.3531+341_3531+377del) c.3522+341_3522+377del (n.3522+341_3522+377del) c.3549+341_3549+377del (n.3549+341_3549+377del) c.3546+341_3546+377del (n.3546+341_3546+377del) c.3528+341_3528+377del (n.3528+341_3528+377del) c.3471+341_3471+377del (n.3471+341_3471+377del) c.3405+341_3405+377del (n.3405+341_3405+377del) c.1971+341_1971+377del (n.1971+341_1971+377del) c.1323+341_1323+377del (n.1323+341_1323+377del) c.1110+341_1110+377del (n.1110+341_1110+377del) c.3384+341_3384+377del (n.3384+341_3384+377del) n.5297-3950_5297-3914del c.3519+341_3519+377del (n.3519+341_3519+377del) c.3525+341_3525+377del (n.3525+341_3525+377del) c.3441+341_3441+377del (n.3441+341_3441+377del) c.3426+341_3426+377del (n.3426+341_3426+377del) c.3369+341_3369+377del (n.3369+341_3369+377del) c.3303+341_3303+377del (n.3303+341_3303+377del) c.2664+341_2664+377del (n.2664+341_2664+377del) c.3282+341_3282+377del (n.3282+341_3282+377del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818478G>C | CA1130164360 | EHMT1 | c.3540+340G>C (n.3540+340G>C) n.26+340G>C c.3447+340G>C (n.3447+340G>C) c.4114+340G>C (n.4114+340G>C) n.521+340G>C c.1614+340G>C (n.1614+340G>C) c.2397+340G>C (n.2397+340G>C) n.1264+340G>C n.893+340G>C c.3531+340G>C (n.3531+340G>C) c.3522+340G>C (n.3522+340G>C) c.3549+340G>C (n.3549+340G>C) c.3546+340G>C (n.3546+340G>C) c.3528+340G>C (n.3528+340G>C) c.3471+340G>C (n.3471+340G>C) c.3405+340G>C (n.3405+340G>C) c.1971+340G>C (n.1971+340G>C) c.1323+340G>C (n.1323+340G>C) c.1110+340G>C (n.1110+340G>C) c.3384+340G>C (n.3384+340G>C) n.5297-3916C>G c.3519+340G>C (n.3519+340G>C) c.3525+340G>C (n.3525+340G>C) c.3441+340G>C (n.3441+340G>C) c.3426+340G>C (n.3426+340G>C) c.3369+340G>C (n.3369+340G>C) c.3303+340G>C (n.3303+340G>C) c.2664+340G>C (n.2664+340G>C) c.3282+340G>C (n.3282+340G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818478G= | CA1884688565 | EHMT1 | c.3540+340G= (n.3540+340G=) n.26+340G= c.3447+340G= (n.3447+340G=) c.4114+340G= (n.4114+340G=) n.521+340G= c.1614+340G= (n.1614+340G=) c.2397+340G= (n.2397+340G=) n.1264+340G= n.893+340G= c.3531+340G= (n.3531+340G=) c.3522+340G= (n.3522+340G=) c.3549+340G= (n.3549+340G=) c.3546+340G= (n.3546+340G=) c.3528+340G= (n.3528+340G=) c.3471+340G= (n.3471+340G=) c.3405+340G= (n.3405+340G=) c.1971+340G= (n.1971+340G=) c.1323+340G= (n.1323+340G=) c.1110+340G= (n.1110+340G=) c.3384+340G= (n.3384+340G=) n.5297-3916C= c.3519+340G= (n.3519+340G=) c.3525+340G= (n.3525+340G=) c.3441+340G= (n.3441+340G=) c.3426+340G= (n.3426+340G=) c.3369+340G= (n.3369+340G=) c.3303+340G= (n.3303+340G=) c.2664+340G= (n.2664+340G=) c.3282+340G= (n.3282+340G=) | |
9 | g.137818479_137818481del | CA2603986829 | EHMT1 | c.3540+341_3540+343del (n.3540+341_3540+343del) n.26+341_26+343del c.3447+341_3447+343del (n.3447+341_3447+343del) c.4114+341_4114+343del (n.4114+341_4114+343del) n.521+341_521+343del c.1614+341_1614+343del (n.1614+341_1614+343del) c.2397+341_2397+343del (n.2397+341_2397+343del) n.1264+341_1264+343del n.893+341_893+343del c.3531+341_3531+343del (n.3531+341_3531+343del) c.3522+341_3522+343del (n.3522+341_3522+343del) c.3549+341_3549+343del (n.3549+341_3549+343del) c.3546+341_3546+343del (n.3546+341_3546+343del) c.3528+341_3528+343del (n.3528+341_3528+343del) c.3471+341_3471+343del (n.3471+341_3471+343del) c.3405+341_3405+343del (n.3405+341_3405+343del) c.1971+341_1971+343del (n.1971+341_1971+343del) c.1323+341_1323+343del (n.1323+341_1323+343del) c.1110+341_1110+343del (n.1110+341_1110+343del) c.3384+341_3384+343del (n.3384+341_3384+343del) n.5297-3918_5297-3916del c.3519+341_3519+343del (n.3519+341_3519+343del) c.3525+341_3525+343del (n.3525+341_3525+343del) c.3441+341_3441+343del (n.3441+341_3441+343del) c.3426+341_3426+343del (n.3426+341_3426+343del) c.3369+341_3369+343del (n.3369+341_3369+343del) c.3303+341_3303+343del (n.3303+341_3303+343del) c.2664+341_2664+343del (n.2664+341_2664+343del) c.3282+341_3282+343del (n.3282+341_3282+343del) | gnomAD v3 gnomAD v4 |
9 | g.137818479A= | CA1884688566 | EHMT1 | c.3540+341A= (n.3540+341A=) n.26+341A= c.3447+341A= (n.3447+341A=) c.4114+341A= (n.4114+341A=) n.521+341A= c.1614+341A= (n.1614+341A=) c.2397+341A= (n.2397+341A=) n.1264+341A= n.893+341A= c.3531+341A= (n.3531+341A=) c.3522+341A= (n.3522+341A=) c.3549+341A= (n.3549+341A=) c.3546+341A= (n.3546+341A=) c.3528+341A= (n.3528+341A=) c.3471+341A= (n.3471+341A=) c.3405+341A= (n.3405+341A=) c.1971+341A= (n.1971+341A=) c.1323+341A= (n.1323+341A=) c.1110+341A= (n.1110+341A=) c.3384+341A= (n.3384+341A=) n.5297-3917T= c.3519+341A= (n.3519+341A=) c.3525+341A= (n.3525+341A=) c.3441+341A= (n.3441+341A=) c.3426+341A= (n.3426+341A=) c.3369+341A= (n.3369+341A=) c.3303+341A= (n.3303+341A=) c.2664+341A= (n.2664+341A=) c.3282+341A= (n.3282+341A=) | |
9 | g.137818479A>G | CA861206451 | EHMT1 | c.3540+341A>G (n.3540+341A>G) n.26+341A>G c.3447+341A>G (n.3447+341A>G) c.4114+341A>G (n.4114+341A>G) n.521+341A>G c.1614+341A>G (n.1614+341A>G) c.2397+341A>G (n.2397+341A>G) n.1264+341A>G n.893+341A>G c.3531+341A>G (n.3531+341A>G) c.3522+341A>G (n.3522+341A>G) c.3549+341A>G (n.3549+341A>G) c.3546+341A>G (n.3546+341A>G) c.3528+341A>G (n.3528+341A>G) c.3471+341A>G (n.3471+341A>G) c.3405+341A>G (n.3405+341A>G) c.1971+341A>G (n.1971+341A>G) c.1323+341A>G (n.1323+341A>G) c.1110+341A>G (n.1110+341A>G) c.3384+341A>G (n.3384+341A>G) n.5297-3917T>C c.3519+341A>G (n.3519+341A>G) c.3525+341A>G (n.3525+341A>G) c.3441+341A>G (n.3441+341A>G) c.3426+341A>G (n.3426+341A>G) c.3369+341A>G (n.3369+341A>G) c.3303+341A>G (n.3303+341A>G) c.2664+341A>G (n.2664+341A>G) c.3282+341A>G (n.3282+341A>G) | dbSNP |
9 | g.137818479_137818480insTGGG | CA1130164365 | EHMT1 | c.3540+341_3540+342insTGGG (n.3540+341_3540+342insTGGG) n.26+341_26+342insTGGG c.3447+341_3447+342insTGGG (n.3447+341_3447+342insTGGG) c.4114+341_4114+342insTGGG (n.4114+341_4114+342insTGGG) n.521+341_521+342insTGGG c.1614+341_1614+342insTGGG (n.1614+341_1614+342insTGGG) c.2397+341_2397+342insTGGG (n.2397+341_2397+342insTGGG) n.1264+341_1264+342insTGGG n.893+341_893+342insTGGG c.3531+341_3531+342insTGGG (n.3531+341_3531+342insTGGG) c.3522+341_3522+342insTGGG (n.3522+341_3522+342insTGGG) c.3549+341_3549+342insTGGG (n.3549+341_3549+342insTGGG) c.3546+341_3546+342insTGGG (n.3546+341_3546+342insTGGG) c.3528+341_3528+342insTGGG (n.3528+341_3528+342insTGGG) c.3471+341_3471+342insTGGG (n.3471+341_3471+342insTGGG) c.3405+341_3405+342insTGGG (n.3405+341_3405+342insTGGG) c.1971+341_1971+342insTGGG (n.1971+341_1971+342insTGGG) c.1323+341_1323+342insTGGG (n.1323+341_1323+342insTGGG) c.1110+341_1110+342insTGGG (n.1110+341_1110+342insTGGG) c.3384+341_3384+342insTGGG (n.3384+341_3384+342insTGGG) n.5297-3918_5297-3917insCCCA c.3519+341_3519+342insTGGG (n.3519+341_3519+342insTGGG) c.3525+341_3525+342insTGGG (n.3525+341_3525+342insTGGG) c.3441+341_3441+342insTGGG (n.3441+341_3441+342insTGGG) c.3426+341_3426+342insTGGG (n.3426+341_3426+342insTGGG) c.3369+341_3369+342insTGGG (n.3369+341_3369+342insTGGG) c.3303+341_3303+342insTGGG (n.3303+341_3303+342insTGGG) c.2664+341_2664+342insTGGG (n.2664+341_2664+342insTGGG) c.3282+341_3282+342insTGGG (n.3282+341_3282+342insTGGG) | gnomAD v3 gnomAD v4 |
9 | g.137818480C= | CA1884688567 | EHMT1 | c.3540+342C= (n.3540+342C=) n.26+342C= c.3447+342C= (n.3447+342C=) c.4114+342C= (n.4114+342C=) n.521+342C= c.1614+342C= (n.1614+342C=) c.2397+342C= (n.2397+342C=) n.1264+342C= n.893+342C= c.3531+342C= (n.3531+342C=) c.3522+342C= (n.3522+342C=) c.3549+342C= (n.3549+342C=) c.3546+342C= (n.3546+342C=) c.3528+342C= (n.3528+342C=) c.3471+342C= (n.3471+342C=) c.3405+342C= (n.3405+342C=) c.1971+342C= (n.1971+342C=) c.1323+342C= (n.1323+342C=) c.1110+342C= (n.1110+342C=) c.3384+342C= (n.3384+342C=) n.5297-3918G= c.3519+342C= (n.3519+342C=) c.3525+342C= (n.3525+342C=) c.3441+342C= (n.3441+342C=) c.3426+342C= (n.3426+342C=) c.3369+342C= (n.3369+342C=) c.3303+342C= (n.3303+342C=) c.2664+342C= (n.2664+342C=) c.3282+342C= (n.3282+342C=) | |
9 | g.137818480C>G | CA861206454 | EHMT1 | c.3540+342C>G (n.3540+342C>G) n.26+342C>G c.3447+342C>G (n.3447+342C>G) c.4114+342C>G (n.4114+342C>G) n.521+342C>G c.1614+342C>G (n.1614+342C>G) c.2397+342C>G (n.2397+342C>G) n.1264+342C>G n.893+342C>G c.3531+342C>G (n.3531+342C>G) c.3522+342C>G (n.3522+342C>G) c.3549+342C>G (n.3549+342C>G) c.3546+342C>G (n.3546+342C>G) c.3528+342C>G (n.3528+342C>G) c.3471+342C>G (n.3471+342C>G) c.3405+342C>G (n.3405+342C>G) c.1971+342C>G (n.1971+342C>G) c.1323+342C>G (n.1323+342C>G) c.1110+342C>G (n.1110+342C>G) c.3384+342C>G (n.3384+342C>G) n.5297-3918G>C c.3519+342C>G (n.3519+342C>G) c.3525+342C>G (n.3525+342C>G) c.3441+342C>G (n.3441+342C>G) c.3426+342C>G (n.3426+342C>G) c.3369+342C>G (n.3369+342C>G) c.3303+342C>G (n.3303+342C>G) c.2664+342C>G (n.2664+342C>G) c.3282+342C>G (n.3282+342C>G) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818480C>T | CA201800612 | EHMT1 | c.3540+342C>T (n.3540+342C>T) n.26+342C>T c.3447+342C>T (n.3447+342C>T) c.4114+342C>T (n.4114+342C>T) n.521+342C>T c.1614+342C>T (n.1614+342C>T) c.2397+342C>T (n.2397+342C>T) n.1264+342C>T n.893+342C>T c.3531+342C>T (n.3531+342C>T) c.3522+342C>T (n.3522+342C>T) c.3549+342C>T (n.3549+342C>T) c.3546+342C>T (n.3546+342C>T) c.3528+342C>T (n.3528+342C>T) c.3471+342C>T (n.3471+342C>T) c.3405+342C>T (n.3405+342C>T) c.1971+342C>T (n.1971+342C>T) c.1323+342C>T (n.1323+342C>T) c.1110+342C>T (n.1110+342C>T) c.3384+342C>T (n.3384+342C>T) n.5297-3918G>A c.3519+342C>T (n.3519+342C>T) c.3525+342C>T (n.3525+342C>T) c.3441+342C>T (n.3441+342C>T) c.3426+342C>T (n.3426+342C>T) c.3369+342C>T (n.3369+342C>T) c.3303+342C>T (n.3303+342C>T) c.2664+342C>T (n.2664+342C>T) c.3282+342C>T (n.3282+342C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818480_137818517delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG | CA1884688568 | EHMT1 | c.3540+342_3540+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3540+342_3540+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) n.26+342_26+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG c.3447+342_3447+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3447+342_3447+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.4114+342_4114+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.4114+342_4114+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) n.521+342_521+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG c.1614+342_1614+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.1614+342_1614+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.2397+342_2397+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.2397+342_2397+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) n.1264+342_1264+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG n.893+342_893+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG c.3531+342_3531+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3531+342_3531+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3522+342_3522+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3522+342_3522+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3549+342_3549+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3549+342_3549+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3546+342_3546+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3546+342_3546+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3528+342_3528+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3528+342_3528+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3471+342_3471+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3471+342_3471+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3405+342_3405+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3405+342_3405+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.1971+342_1971+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.1971+342_1971+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.1323+342_1323+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.1323+342_1323+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.1110+342_1110+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.1110+342_1110+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3384+342_3384+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3384+342_3384+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) n.5297-3955_5297-3918delinsCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCCG c.3519+342_3519+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3519+342_3519+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3525+342_3525+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3525+342_3525+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3441+342_3441+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3441+342_3441+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3426+342_3426+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3426+342_3426+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3369+342_3369+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3369+342_3369+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3303+342_3303+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3303+342_3303+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.2664+342_2664+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.2664+342_2664+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) c.3282+342_3282+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG (n.3282+342_3282+379delinsCGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGG) | |
9 | g.137818481G>A | CA201800625 | EHMT1 | c.3540+343G>A (n.3540+343G>A) n.26+343G>A c.3447+343G>A (n.3447+343G>A) c.4114+343G>A (n.4114+343G>A) n.521+343G>A c.1614+343G>A (n.1614+343G>A) c.2397+343G>A (n.2397+343G>A) n.1264+343G>A n.893+343G>A c.3531+343G>A (n.3531+343G>A) c.3522+343G>A (n.3522+343G>A) c.3549+343G>A (n.3549+343G>A) c.3546+343G>A (n.3546+343G>A) c.3528+343G>A (n.3528+343G>A) c.3471+343G>A (n.3471+343G>A) c.3405+343G>A (n.3405+343G>A) c.1971+343G>A (n.1971+343G>A) c.1323+343G>A (n.1323+343G>A) c.1110+343G>A (n.1110+343G>A) c.3384+343G>A (n.3384+343G>A) n.5297-3919C>T c.3519+343G>A (n.3519+343G>A) c.3525+343G>A (n.3525+343G>A) c.3441+343G>A (n.3441+343G>A) c.3426+343G>A (n.3426+343G>A) c.3369+343G>A (n.3369+343G>A) c.3303+343G>A (n.3303+343G>A) c.2664+343G>A (n.2664+343G>A) c.3282+343G>A (n.3282+343G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818481G= | CA1884688569 | EHMT1 | c.3540+343G= (n.3540+343G=) n.26+343G= c.3447+343G= (n.3447+343G=) c.4114+343G= (n.4114+343G=) n.521+343G= c.1614+343G= (n.1614+343G=) c.2397+343G= (n.2397+343G=) n.1264+343G= n.893+343G= c.3531+343G= (n.3531+343G=) c.3522+343G= (n.3522+343G=) c.3549+343G= (n.3549+343G=) c.3546+343G= (n.3546+343G=) c.3528+343G= (n.3528+343G=) c.3471+343G= (n.3471+343G=) c.3405+343G= (n.3405+343G=) c.1971+343G= (n.1971+343G=) c.1323+343G= (n.1323+343G=) c.1110+343G= (n.1110+343G=) c.3384+343G= (n.3384+343G=) n.5297-3919C= c.3519+343G= (n.3519+343G=) c.3525+343G= (n.3525+343G=) c.3441+343G= (n.3441+343G=) c.3426+343G= (n.3426+343G=) c.3369+343G= (n.3369+343G=) c.3303+343G= (n.3303+343G=) c.2664+343G= (n.2664+343G=) c.3282+343G= (n.3282+343G=) | |
9 | g.137818481G>T | CA2786319794 | EHMT1 | c.3540+343G>T (n.3540+343G>T) n.26+343G>T c.3447+343G>T (n.3447+343G>T) c.4114+343G>T (n.4114+343G>T) n.521+343G>T c.1614+343G>T (n.1614+343G>T) c.2397+343G>T (n.2397+343G>T) n.1264+343G>T n.893+343G>T c.3531+343G>T (n.3531+343G>T) c.3522+343G>T (n.3522+343G>T) c.3549+343G>T (n.3549+343G>T) c.3546+343G>T (n.3546+343G>T) c.3528+343G>T (n.3528+343G>T) c.3471+343G>T (n.3471+343G>T) c.3405+343G>T (n.3405+343G>T) c.1971+343G>T (n.1971+343G>T) c.1323+343G>T (n.1323+343G>T) c.1110+343G>T (n.1110+343G>T) c.3384+343G>T (n.3384+343G>T) n.5297-3919C>A c.3519+343G>T (n.3519+343G>T) c.3525+343G>T (n.3525+343G>T) c.3441+343G>T (n.3441+343G>T) c.3426+343G>T (n.3426+343G>T) c.3369+343G>T (n.3369+343G>T) c.3303+343G>T (n.3303+343G>T) c.2664+343G>T (n.2664+343G>T) c.3282+343G>T (n.3282+343G>T) | |
9 | g.137818481_137818482insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG | CA1130164397 | EHMT1 | c.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3540+343_3540+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) n.26+343_26+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG c.3447+343_3447+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3447+343_3447+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.4114+343_4114+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.4114+343_4114+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) n.521+343_521+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG c.1614+343_1614+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.1614+343_1614+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.2397+343_2397+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.2397+343_2397+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) n.1264+343_1264+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG n.893+343_893+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG c.3531+343_3531+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3531+343_3531+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3522+343_3522+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3522+343_3522+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3549+343_3549+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3549+343_3549+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3546+343_3546+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3546+343_3546+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3528+343_3528+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3528+343_3528+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3471+343_3471+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3471+343_3471+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3405+343_3405+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3405+343_3405+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.1971+343_1971+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.1971+343_1971+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.1323+343_1323+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.1323+343_1323+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.1110+343_1110+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.1110+343_1110+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3384+343_3384+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3384+343_3384+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGC c.3519+343_3519+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3519+343_3519+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3525+343_3525+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3525+343_3525+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3441+343_3441+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3441+343_3441+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3426+343_3426+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3426+343_3426+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3369+343_3369+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3369+343_3369+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3303+343_3303+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3303+343_3303+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.2664+343_2664+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.2664+343_2664+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) c.3282+343_3282+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG (n.3282+343_3282+344insCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818491_137818492insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT | CA1130164383 | EHMT1 | c.3540+353_3540+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3540+353_3540+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) n.26+353_26+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT c.3447+353_3447+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3447+353_3447+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.4114+353_4114+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.4114+353_4114+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) n.521+353_521+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT c.1614+353_1614+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.1614+353_1614+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.2397+353_2397+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.2397+353_2397+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) n.1264+353_1264+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT n.893+353_893+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT c.3531+353_3531+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3531+353_3531+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3522+353_3522+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3522+353_3522+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3549+353_3549+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3549+353_3549+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3546+353_3546+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3546+353_3546+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3528+353_3528+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3528+353_3528+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3471+353_3471+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3471+353_3471+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3405+353_3405+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3405+353_3405+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.1971+353_1971+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.1971+353_1971+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.1323+353_1323+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.1323+353_1323+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.1110+353_1110+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.1110+353_1110+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3384+353_3384+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3384+353_3384+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGCACACGGCGCCC c.3519+353_3519+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3519+353_3519+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3525+353_3525+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3525+353_3525+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3441+353_3441+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3441+353_3441+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3426+353_3426+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3426+353_3426+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3369+353_3369+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3369+353_3369+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3303+353_3303+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3303+353_3303+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.2664+353_2664+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.2664+353_2664+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) c.3282+353_3282+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT (n.3282+353_3282+354insGCCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGT) | gnomAD v3 gnomAD v4 |
9 | g.137818494_137818495insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC | CA1130164385 | EHMT1 | c.3540+356_3540+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3540+356_3540+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.26+356_26+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.3447+356_3447+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3447+356_3447+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.4114+356_4114+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.4114+356_4114+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.521+356_521+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.1614+356_1614+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1614+356_1614+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.2397+356_2397+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.2397+356_2397+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.1264+356_1264+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC n.893+356_893+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.3531+356_3531+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3531+356_3531+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3522+356_3522+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3522+356_3522+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3549+356_3549+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3549+356_3549+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3546+356_3546+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3546+356_3546+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3528+356_3528+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3528+356_3528+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3471+356_3471+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3471+356_3471+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3405+356_3405+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3405+356_3405+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1971+356_1971+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1971+356_1971+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1323+356_1323+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1323+356_1323+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1110+356_1110+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1110+356_1110+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3384+356_3384+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3384+356_3384+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACACGGCGCCC c.3519+356_3519+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3519+356_3519+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3525+356_3525+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3525+356_3525+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3441+356_3441+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3441+356_3441+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3426+356_3426+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3426+356_3426+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3369+356_3369+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3369+356_3369+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3303+356_3303+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3303+356_3303+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.2664+356_2664+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.2664+356_2664+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3282+356_3282+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3282+356_3282+357insGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818494_137818495insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC | CA1130164384 | EHMT1 | c.3540+356_3540+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3540+356_3540+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.26+356_26+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.3447+356_3447+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3447+356_3447+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.4114+356_4114+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.4114+356_4114+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.521+356_521+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.1614+356_1614+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1614+356_1614+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.2397+356_2397+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.2397+356_2397+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.1264+356_1264+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC n.893+356_893+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.3531+356_3531+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3531+356_3531+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3522+356_3522+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3522+356_3522+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3549+356_3549+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3549+356_3549+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3546+356_3546+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3546+356_3546+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3528+356_3528+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3528+356_3528+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3471+356_3471+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3471+356_3471+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3405+356_3405+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3405+356_3405+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1971+356_1971+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1971+356_1971+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1323+356_1323+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1323+356_1323+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1110+356_1110+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1110+356_1110+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3384+356_3384+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3384+356_3384+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTTGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTCGGTACACGGCGCCC c.3519+356_3519+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3519+356_3519+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3525+356_3525+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3525+356_3525+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3441+356_3441+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3441+356_3441+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3426+356_3426+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3426+356_3426+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3369+356_3369+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3369+356_3369+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3303+356_3303+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3303+356_3303+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.2664+356_2664+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.2664+356_2664+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3282+356_3282+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3282+356_3282+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818494_137818495insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC | CA591240812 | EHMT1 | c.3540+356_3540+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3540+356_3540+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.26+356_26+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.3447+356_3447+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3447+356_3447+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.4114+356_4114+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.4114+356_4114+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.521+356_521+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.1614+356_1614+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1614+356_1614+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.2397+356_2397+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.2397+356_2397+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.1264+356_1264+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC n.893+356_893+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC c.3531+356_3531+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3531+356_3531+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3522+356_3522+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3522+356_3522+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3549+356_3549+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3549+356_3549+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3546+356_3546+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3546+356_3546+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3528+356_3528+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3528+356_3528+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3471+356_3471+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3471+356_3471+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3405+356_3405+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3405+356_3405+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1971+356_1971+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1971+356_1971+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1323+356_1323+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1323+356_1323+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.1110+356_1110+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.1110+356_1110+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3384+356_3384+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3384+356_3384+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTCGGTACACGGCGCCC c.3519+356_3519+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3519+356_3519+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3525+356_3525+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3525+356_3525+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3441+356_3441+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3441+356_3441+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3426+356_3426+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3426+356_3426+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3369+356_3369+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3369+356_3369+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3303+356_3303+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3303+356_3303+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.2664+356_2664+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.2664+356_2664+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) c.3282+356_3282+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC (n.3282+356_3282+357insGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818499_137818500insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC | CA1130164398 | EHMT1 | c.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3540+361_3540+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) n.26+361_26+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC c.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3447+361_3447+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.4114+361_4114+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.4114+361_4114+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) n.521+361_521+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC c.1614+361_1614+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.1614+361_1614+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.2397+361_2397+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.2397+361_2397+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) n.1264+361_1264+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC n.893+361_893+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC c.3531+361_3531+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3531+361_3531+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3522+361_3522+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3522+361_3522+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3549+361_3549+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3549+361_3549+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3546+361_3546+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3546+361_3546+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3528+361_3528+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3528+361_3528+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3471+361_3471+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3471+361_3471+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3405+361_3405+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3405+361_3405+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.1971+361_1971+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.1971+361_1971+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.1323+361_1323+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.1323+361_1323+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.1110+361_1110+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.1110+361_1110+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3384+361_3384+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3384+361_3384+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACGGTCTTGGTACACGGCGCCC c.3519+361_3519+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3519+361_3519+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3525+361_3525+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3525+361_3525+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3441+361_3441+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3441+361_3441+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3426+361_3426+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3426+361_3426+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3369+361_3369+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3369+361_3369+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3303+361_3303+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3303+361_3303+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.2664+361_2664+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.2664+361_2664+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) c.3282+361_3282+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC (n.3282+361_3282+362insCGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGAC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818510_137818511insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC | CA1130164400 | EHMT1 | c.3540+372_3540+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3540+372_3540+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.26+372_26+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC c.3447+372_3447+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3447+372_3447+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.4114+372_4114+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.4114+372_4114+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.521+372_521+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC c.1614+372_1614+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1614+372_1614+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.2397+372_2397+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.2397+372_2397+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.1264+372_1264+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC n.893+372_893+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC c.3531+372_3531+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3531+372_3531+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3522+372_3522+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3522+372_3522+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3549+372_3549+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3549+372_3549+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3546+372_3546+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3546+372_3546+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3528+372_3528+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3528+372_3528+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3471+372_3471+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3471+372_3471+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3405+372_3405+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3405+372_3405+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.1971+372_1971+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1971+372_1971+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.1323+372_1323+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1323+372_1323+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.1110+372_1110+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1110+372_1110+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3384+372_3384+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3384+372_3384+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+372_3519+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3519+372_3519+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3525+372_3525+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3525+372_3525+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3441+372_3441+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3441+372_3441+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3426+372_3426+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3426+372_3426+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3369+372_3369+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3369+372_3369+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3303+372_3303+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3303+372_3303+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.2664+372_2664+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.2664+372_2664+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3282+372_3282+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3282+372_3282+373insCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818510_137818511insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC | CA1130164411 | EHMT1 | c.3540+372_3540+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3540+372_3540+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.26+372_26+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC c.3447+372_3447+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3447+372_3447+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.4114+372_4114+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.4114+372_4114+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.521+372_521+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC c.1614+372_1614+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1614+372_1614+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.2397+372_2397+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.2397+372_2397+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.1264+372_1264+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC n.893+372_893+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC c.3531+372_3531+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3531+372_3531+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3522+372_3522+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3522+372_3522+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3549+372_3549+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3549+372_3549+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3546+372_3546+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3546+372_3546+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3528+372_3528+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3528+372_3528+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3471+372_3471+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3471+372_3471+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3405+372_3405+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3405+372_3405+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.1971+372_1971+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1971+372_1971+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.1323+372_1323+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1323+372_1323+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.1110+372_1110+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.1110+372_1110+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3384+372_3384+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3384+372_3384+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACGGTCTCGGTACATGGCGCCCCCCCTCCGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+372_3519+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3519+372_3519+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3525+372_3525+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3525+372_3525+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3441+372_3441+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3441+372_3441+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3426+372_3426+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3426+372_3426+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3369+372_3369+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3369+372_3369+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3303+372_3303+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3303+372_3303+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.2664+372_2664+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.2664+372_2664+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) c.3282+372_3282+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC (n.3282+372_3282+373insGGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818512_137818513insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG | CA591240816 | EHMT1 | c.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.26+374_26+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG c.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.4114+374_4114+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.4114+374_4114+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.521+374_521+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG c.1614+374_1614+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1614+374_1614+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.2397+374_2397+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.2397+374_2397+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.1264+374_1264+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG n.893+374_893+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG c.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCACAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) c.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG (n.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818513_137818514insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA | CA1130164394 | EHMT1 | c.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3540+375_3540+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) n.26+375_26+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA c.3447+375_3447+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3447+375_3447+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.4114+375_4114+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.4114+375_4114+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) n.521+375_521+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA c.1614+375_1614+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.1614+375_1614+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.2397+375_2397+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.2397+375_2397+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) n.1264+375_1264+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA n.893+375_893+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA c.3531+375_3531+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3531+375_3531+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3522+375_3522+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3522+375_3522+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3549+375_3549+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3549+375_3549+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3546+375_3546+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3546+375_3546+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3528+375_3528+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3528+375_3528+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3471+375_3471+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3471+375_3471+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3405+375_3405+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3405+375_3405+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.1971+375_1971+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.1971+375_1971+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.1323+375_1323+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.1323+375_1323+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.1110+375_1110+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.1110+375_1110+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3384+375_3384+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3384+375_3384+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCTTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+375_3519+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3519+375_3519+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3525+375_3525+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3525+375_3525+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3441+375_3441+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3441+375_3441+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3426+375_3426+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3426+375_3426+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3369+375_3369+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3369+375_3369+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3303+375_3303+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3303+375_3303+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.2664+375_2664+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.2664+375_2664+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) c.3282+375_3282+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA (n.3282+375_3282+376insAGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGA) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818514_137818515insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG | CA1130164386 | EHMT1 | c.3540+376_3540+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3540+376_3540+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.26+376_26+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG c.3447+376_3447+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3447+376_3447+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.4114+376_4114+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.4114+376_4114+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.521+376_521+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG c.1614+376_1614+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1614+376_1614+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.2397+376_2397+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.2397+376_2397+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.1264+376_1264+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG n.893+376_893+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG c.3531+376_3531+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3531+376_3531+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3522+376_3522+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3522+376_3522+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3549+376_3549+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3549+376_3549+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3546+376_3546+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3546+376_3546+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3528+376_3528+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3528+376_3528+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3471+376_3471+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3471+376_3471+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3405+376_3405+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3405+376_3405+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.1971+376_1971+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1971+376_1971+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.1323+376_1323+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1323+376_1323+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.1110+376_1110+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1110+376_1110+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3384+376_3384+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3384+376_3384+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCACTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+376_3519+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3519+376_3519+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3525+376_3525+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3525+376_3525+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3441+376_3441+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3441+376_3441+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3426+376_3426+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3426+376_3426+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3369+376_3369+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3369+376_3369+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3303+376_3303+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3303+376_3303+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.2664+376_2664+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.2664+376_2664+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3282+376_3282+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3282+376_3282+377insTGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818514_137818515insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG | CA1130164413 | EHMT1 | c.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3540+376_3540+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.26+376_26+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG c.3447+376_3447+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3447+376_3447+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.4114+376_4114+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.4114+376_4114+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.521+376_521+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG c.1614+376_1614+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1614+376_1614+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.2397+376_2397+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.2397+376_2397+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.1264+376_1264+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG n.893+376_893+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG c.3531+376_3531+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3531+376_3531+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3522+376_3522+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3522+376_3522+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3549+376_3549+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3549+376_3549+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3546+376_3546+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3546+376_3546+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3528+376_3528+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3528+376_3528+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3471+376_3471+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3471+376_3471+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3405+376_3405+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3405+376_3405+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.1971+376_1971+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1971+376_1971+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.1323+376_1323+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1323+376_1323+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.1110+376_1110+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.1110+376_1110+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3384+376_3384+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3384+376_3384+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCGCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+376_3519+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3519+376_3519+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3525+376_3525+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3525+376_3525+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3441+376_3441+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3441+376_3441+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3426+376_3426+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3426+376_3426+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3369+376_3369+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3369+376_3369+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3303+376_3303+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3303+376_3303+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.2664+376_2664+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.2664+376_2664+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) c.3282+376_3282+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG (n.3282+376_3282+377insCGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818519_137818520insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | CA1130164416 | EHMT1 | c.3540+381_3540+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3540+381_3540+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.26+381_26+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.3447+381_3447+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3447+381_3447+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.4114+381_4114+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.4114+381_4114+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.521+381_521+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.1614+381_1614+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1614+381_1614+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.2397+381_2397+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.2397+381_2397+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.1264+381_1264+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG n.893+381_893+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.3531+381_3531+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3531+381_3531+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3522+381_3522+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3522+381_3522+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3549+381_3549+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3549+381_3549+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3546+381_3546+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3546+381_3546+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3528+381_3528+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3528+381_3528+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3471+381_3471+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3471+381_3471+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3405+381_3405+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3405+381_3405+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1971+381_1971+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1971+381_1971+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1323+381_1323+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1323+381_1323+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1110+381_1110+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1110+381_1110+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3384+381_3384+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3384+381_3384+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+381_3519+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3519+381_3519+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3525+381_3525+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3525+381_3525+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3441+381_3441+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3441+381_3441+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3426+381_3426+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3426+381_3426+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3369+381_3369+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3369+381_3369+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3303+381_3303+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3303+381_3303+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.2664+381_2664+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.2664+381_2664+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3282+381_3282+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3282+381_3282+382insCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818519_137818520insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | CA591240815 | EHMT1 | c.3540+381_3540+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3540+381_3540+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.26+381_26+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.3447+381_3447+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3447+381_3447+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.4114+381_4114+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.4114+381_4114+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.521+381_521+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.1614+381_1614+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1614+381_1614+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.2397+381_2397+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.2397+381_2397+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.1264+381_1264+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG n.893+381_893+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.3531+381_3531+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3531+381_3531+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3522+381_3522+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3522+381_3522+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3549+381_3549+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3549+381_3549+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3546+381_3546+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3546+381_3546+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3528+381_3528+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3528+381_3528+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3471+381_3471+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3471+381_3471+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3405+381_3405+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3405+381_3405+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1971+381_1971+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1971+381_1971+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1323+381_1323+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1323+381_1323+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1110+381_1110+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1110+381_1110+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3384+381_3384+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3384+381_3384+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.5297-3919_5297-3918insCTCAATCAGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+381_3519+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3519+381_3519+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3525+381_3525+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3525+381_3525+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3441+381_3441+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3441+381_3441+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3426+381_3426+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3426+381_3426+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3369+381_3369+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3369+381_3369+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3303+381_3303+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3303+381_3303+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.2664+381_2664+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.2664+381_2664+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3282+381_3282+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3282+381_3282+382insCGCCATGTACCGAGACTGTAGAGAGGCTGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818519_137818520insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | CA2525850995 | EHMT1 | c.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.26+381_26+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.3447+381_3447+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3447+381_3447+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.4114+381_4114+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.4114+381_4114+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.521+381_521+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.1614+381_1614+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1614+381_1614+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.2397+381_2397+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.2397+381_2397+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.1264+381_1264+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG n.893+381_893+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG c.3531+381_3531+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3531+381_3531+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3522+381_3522+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3522+381_3522+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3549+381_3549+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3549+381_3549+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3546+381_3546+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3546+381_3546+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3528+381_3528+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3528+381_3528+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3471+381_3471+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3471+381_3471+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3405+381_3405+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3405+381_3405+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1971+381_1971+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1971+381_1971+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1323+381_1323+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1323+381_1323+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.1110+381_1110+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.1110+381_1110+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3384+381_3384+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3384+381_3384+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGTCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+381_3519+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3519+381_3519+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3525+381_3525+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3525+381_3525+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3441+381_3441+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3441+381_3441+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3426+381_3426+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3426+381_3426+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3369+381_3369+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3369+381_3369+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3303+381_3303+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3303+381_3303+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.2664+381_2664+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.2664+381_2664+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) c.3282+381_3282+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG (n.3282+381_3282+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG) | |
9 | g.137818524_137818525insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC | CA2786319792 | EHMT1 | c.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3540+386_3540+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) n.26+386_26+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC c.3447+386_3447+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3447+386_3447+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.4114+386_4114+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.4114+386_4114+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) n.521+386_521+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC c.1614+386_1614+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.1614+386_1614+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.2397+386_2397+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.2397+386_2397+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) n.1264+386_1264+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC n.893+386_893+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC c.3531+386_3531+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3531+386_3531+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3522+386_3522+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3522+386_3522+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3549+386_3549+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3549+386_3549+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3546+386_3546+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3546+386_3546+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3528+386_3528+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3528+386_3528+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3471+386_3471+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3471+386_3471+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3405+386_3405+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3405+386_3405+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.1971+386_1971+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.1971+386_1971+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.1323+386_1323+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.1323+386_1323+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.1110+386_1110+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.1110+386_1110+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3384+386_3384+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3384+386_3384+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTCCAGGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+386_3519+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3519+386_3519+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3525+386_3525+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3525+386_3525+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3441+386_3441+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3441+386_3441+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3426+386_3426+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3426+386_3426+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3369+386_3369+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3369+386_3369+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3303+386_3303+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3303+386_3303+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.2664+386_2664+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.2664+386_2664+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) c.3282+386_3282+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC (n.3282+386_3282+387insCTGGACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCC) | |
9 | g.137818488_137818524dup | CA1130164414 | EHMT1 | c.3540+350_3540+386dup (n.3540+350_3540+386dup) n.26+350_26+386dup c.3447+350_3447+386dup (n.3447+350_3447+386dup) c.4114+350_4114+386dup (n.4114+350_4114+386dup) n.521+350_521+386dup c.1614+350_1614+386dup (n.1614+350_1614+386dup) c.2397+350_2397+386dup (n.2397+350_2397+386dup) n.1264+350_1264+386dup n.893+350_893+386dup c.3531+350_3531+386dup (n.3531+350_3531+386dup) c.3522+350_3522+386dup (n.3522+350_3522+386dup) c.3549+350_3549+386dup (n.3549+350_3549+386dup) c.3546+350_3546+386dup (n.3546+350_3546+386dup) c.3528+350_3528+386dup (n.3528+350_3528+386dup) c.3471+350_3471+386dup (n.3471+350_3471+386dup) c.3405+350_3405+386dup (n.3405+350_3405+386dup) c.1971+350_1971+386dup (n.1971+350_1971+386dup) c.1323+350_1323+386dup (n.1323+350_1323+386dup) c.1110+350_1110+386dup (n.1110+350_1110+386dup) c.3384+350_3384+386dup (n.3384+350_3384+386dup) n.5297-3955_5297-3919dup c.3519+350_3519+386dup (n.3519+350_3519+386dup) c.3525+350_3525+386dup (n.3525+350_3525+386dup) c.3441+350_3441+386dup (n.3441+350_3441+386dup) c.3426+350_3426+386dup (n.3426+350_3426+386dup) c.3369+350_3369+386dup (n.3369+350_3369+386dup) c.3303+350_3303+386dup (n.3303+350_3303+386dup) c.2664+350_2664+386dup (n.2664+350_2664+386dup) c.3282+350_3282+386dup (n.3282+350_3282+386dup) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818488_137818524del | CA1130164380 | EHMT1 | c.3540+350_3540+386del (n.3540+350_3540+386del) n.26+350_26+386del c.3447+350_3447+386del (n.3447+350_3447+386del) c.4114+350_4114+386del (n.4114+350_4114+386del) n.521+350_521+386del c.1614+350_1614+386del (n.1614+350_1614+386del) c.2397+350_2397+386del (n.2397+350_2397+386del) n.1264+350_1264+386del n.893+350_893+386del c.3531+350_3531+386del (n.3531+350_3531+386del) c.3522+350_3522+386del (n.3522+350_3522+386del) c.3549+350_3549+386del (n.3549+350_3549+386del) c.3546+350_3546+386del (n.3546+350_3546+386del) c.3528+350_3528+386del (n.3528+350_3528+386del) c.3471+350_3471+386del (n.3471+350_3471+386del) c.3405+350_3405+386del (n.3405+350_3405+386del) c.1971+350_1971+386del (n.1971+350_1971+386del) c.1323+350_1323+386del (n.1323+350_1323+386del) c.1110+350_1110+386del (n.1110+350_1110+386del) c.3384+350_3384+386del (n.3384+350_3384+386del) n.5297-3955_5297-3919del c.3519+350_3519+386del (n.3519+350_3519+386del) c.3525+350_3525+386del (n.3525+350_3525+386del) c.3441+350_3441+386del (n.3441+350_3441+386del) c.3426+350_3426+386del (n.3426+350_3426+386del) c.3369+350_3369+386del (n.3369+350_3369+386del) c.3303+350_3303+386del (n.3303+350_3303+386del) c.2664+350_2664+386del (n.2664+350_2664+386del) c.3282+350_3282+386del (n.3282+350_3282+386del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818527_137818528insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG | CA2786319793 | EHMT1 | c.3540+389_3540+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3540+389_3540+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) n.26+389_26+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG c.3447+389_3447+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3447+389_3447+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.4114+389_4114+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.4114+389_4114+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) n.521+389_521+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG c.1614+389_1614+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.1614+389_1614+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.2397+389_2397+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.2397+389_2397+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) n.1264+389_1264+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG n.893+389_893+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG c.3531+389_3531+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3531+389_3531+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3522+389_3522+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3522+389_3522+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3549+389_3549+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3549+389_3549+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3546+389_3546+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3546+389_3546+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3528+389_3528+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3528+389_3528+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3471+389_3471+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3471+389_3471+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3405+389_3405+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3405+389_3405+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.1971+389_1971+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.1971+389_1971+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.1323+389_1323+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.1323+389_1323+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.1110+389_1110+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.1110+389_1110+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3384+389_3384+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3384+389_3384+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTTCATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+389_3519+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3519+389_3519+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3525+389_3525+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3525+389_3525+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3441+389_3441+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3441+389_3441+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3426+389_3426+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3426+389_3426+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3369+389_3369+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3369+389_3369+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3303+389_3303+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3303+389_3303+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.2664+389_2664+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.2664+389_2664+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) c.3282+389_3282+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG (n.3282+389_3282+390insAACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATG) | |
9 | g.137818528_137818529insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT | CA1130164387 | EHMT1 | c.3540+390_3540+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3540+390_3540+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.26+390_26+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT c.3447+390_3447+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3447+390_3447+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.4114+390_4114+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.4114+390_4114+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.521+390_521+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT c.1614+390_1614+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1614+390_1614+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.2397+390_2397+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.2397+390_2397+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.1264+390_1264+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT n.893+390_893+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT c.3531+390_3531+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3531+390_3531+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3522+390_3522+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3522+390_3522+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3549+390_3549+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3549+390_3549+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3546+390_3546+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3546+390_3546+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3528+390_3528+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3528+390_3528+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3471+390_3471+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3471+390_3471+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3405+390_3405+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3405+390_3405+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.1971+390_1971+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1971+390_1971+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.1323+390_1323+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1323+390_1323+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.1110+390_1110+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1110+390_1110+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3384+390_3384+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3384+390_3384+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGAACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+390_3519+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3519+390_3519+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3525+390_3525+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3525+390_3525+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3441+390_3441+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3441+390_3441+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3426+390_3426+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3426+390_3426+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3369+390_3369+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3369+390_3369+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3303+390_3303+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3303+390_3303+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.2664+390_2664+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.2664+390_2664+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3282+390_3282+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3282+390_3282+391insTCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) | gnomAD v3 gnomAD v4 |
9 | g.137818528_137818529insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT | CA2786319791 | EHMT1 | c.3540+390_3540+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3540+390_3540+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.26+390_26+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT c.3447+390_3447+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3447+390_3447+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.4114+390_4114+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.4114+390_4114+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.521+390_521+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT c.1614+390_1614+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1614+390_1614+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.2397+390_2397+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.2397+390_2397+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.1264+390_1264+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT n.893+390_893+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT c.3531+390_3531+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3531+390_3531+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3522+390_3522+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3522+390_3522+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3549+390_3549+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3549+390_3549+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3546+390_3546+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3546+390_3546+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3528+390_3528+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3528+390_3528+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3471+390_3471+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3471+390_3471+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3405+390_3405+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3405+390_3405+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.1971+390_1971+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1971+390_1971+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.1323+390_1323+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1323+390_1323+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.1110+390_1110+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.1110+390_1110+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3384+390_3384+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3384+390_3384+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGGACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+390_3519+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3519+390_3519+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3525+390_3525+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3525+390_3525+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3441+390_3441+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3441+390_3441+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3426+390_3426+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3426+390_3426+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3369+390_3369+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3369+390_3369+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3303+390_3303+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3303+390_3303+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.2664+390_2664+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.2664+390_2664+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) c.3282+390_3282+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT (n.3282+390_3282+391insCCCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGT) | |
9 | g.137818530_137818531insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC | CA1130164389 | EHMT1 | c.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3540+392_3540+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) n.26+392_26+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC c.3447+392_3447+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3447+392_3447+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.4114+392_4114+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.4114+392_4114+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) n.521+392_521+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC c.1614+392_1614+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.1614+392_1614+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.2397+392_2397+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.2397+392_2397+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) n.1264+392_1264+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC n.893+392_893+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC c.3531+392_3531+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3531+392_3531+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3522+392_3522+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3522+392_3522+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3549+392_3549+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3549+392_3549+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3546+392_3546+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3546+392_3546+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3528+392_3528+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3528+392_3528+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3471+392_3471+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3471+392_3471+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3405+392_3405+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3405+392_3405+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.1971+392_1971+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.1971+392_1971+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.1323+392_1323+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.1323+392_1323+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.1110+392_1110+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.1110+392_1110+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3384+392_3384+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3384+392_3384+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCAGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+392_3519+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3519+392_3519+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3525+392_3525+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3525+392_3525+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3441+392_3441+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3441+392_3441+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3426+392_3426+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3426+392_3426+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3369+392_3369+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3369+392_3369+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3303+392_3303+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3303+392_3303+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.2664+392_2664+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.2664+392_2664+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) c.3282+392_3282+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC (n.3282+392_3282+393insTGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTAC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818531_137818532insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC | CA2786319796 | EHMT1 | c.3540+393_3540+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3540+393_3540+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.26+393_26+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.3447+393_3447+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3447+393_3447+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.4114+393_4114+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.4114+393_4114+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.521+393_521+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.1614+393_1614+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1614+393_1614+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.2397+393_2397+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.2397+393_2397+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.1264+393_1264+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC n.893+393_893+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.3531+393_3531+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3531+393_3531+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3522+393_3522+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3522+393_3522+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3549+393_3549+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3549+393_3549+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3546+393_3546+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3546+393_3546+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3528+393_3528+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3528+393_3528+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3471+393_3471+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3471+393_3471+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3405+393_3405+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3405+393_3405+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1971+393_1971+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1971+393_1971+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1323+393_1323+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1323+393_1323+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1110+393_1110+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1110+393_1110+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3384+393_3384+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3384+393_3384+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTTGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+393_3519+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3519+393_3519+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3525+393_3525+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3525+393_3525+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3441+393_3441+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3441+393_3441+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3426+393_3426+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3426+393_3426+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3369+393_3369+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3369+393_3369+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3303+393_3303+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3303+393_3303+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.2664+393_2664+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.2664+393_2664+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3282+393_3282+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3282+393_3282+394insAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) | |
9 | g.137818531_137818532insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC | CA2603986834 | EHMT1 | c.3540+393_3540+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3540+393_3540+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.26+393_26+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.3447+393_3447+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3447+393_3447+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.4114+393_4114+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.4114+393_4114+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.521+393_521+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.1614+393_1614+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1614+393_1614+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.2397+393_2397+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.2397+393_2397+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.1264+393_1264+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC n.893+393_893+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.3531+393_3531+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3531+393_3531+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3522+393_3522+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3522+393_3522+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3549+393_3549+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3549+393_3549+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3546+393_3546+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3546+393_3546+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3528+393_3528+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3528+393_3528+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3471+393_3471+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3471+393_3471+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3405+393_3405+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3405+393_3405+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1971+393_1971+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1971+393_1971+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1323+393_1323+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1323+393_1323+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1110+393_1110+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1110+393_1110+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3384+393_3384+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3384+393_3384+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACGGTCTTGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+393_3519+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3519+393_3519+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3525+393_3525+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3525+393_3525+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3441+393_3441+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3441+393_3441+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3426+393_3426+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3426+393_3426+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3369+393_3369+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3369+393_3369+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3303+393_3303+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3303+393_3303+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.2664+393_2664+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.2664+393_2664+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3282+393_3282+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3282+393_3282+394insAAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) | gnomAD v3 gnomAD v4 |
9 | g.137818531_137818532insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC | CA1130164417 | EHMT1 | c.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3540+393_3540+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.26+393_26+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.3447+393_3447+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3447+393_3447+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.4114+393_4114+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.4114+393_4114+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.521+393_521+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.1614+393_1614+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1614+393_1614+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.2397+393_2397+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.2397+393_2397+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.1264+393_1264+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC n.893+393_893+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC c.3531+393_3531+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3531+393_3531+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3522+393_3522+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3522+393_3522+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3549+393_3549+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3549+393_3549+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3546+393_3546+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3546+393_3546+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3528+393_3528+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3528+393_3528+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3471+393_3471+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3471+393_3471+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3405+393_3405+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3405+393_3405+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1971+393_1971+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1971+393_1971+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1323+393_1323+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1323+393_1323+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.1110+393_1110+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.1110+393_1110+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3384+393_3384+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3384+393_3384+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) n.5297-3919_5297-3918insCTCAGTCGGCCTCTCTACGGTCTTGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+393_3519+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3519+393_3519+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3525+393_3525+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3525+393_3525+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3441+393_3441+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3441+393_3441+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3426+393_3426+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3426+393_3426+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3369+393_3369+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3369+393_3369+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3303+393_3303+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3303+393_3303+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.2664+393_2664+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.2664+393_2664+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) c.3282+393_3282+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC (n.3282+393_3282+394insAAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818534_137818535insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG | CA2603986833 | EHMT1 | c.3540+396_3540+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3540+396_3540+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) n.26+396_26+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG c.3447+396_3447+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3447+396_3447+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.4114+396_4114+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.4114+396_4114+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) n.521+396_521+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG c.1614+396_1614+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.1614+396_1614+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.2397+396_2397+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.2397+396_2397+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) n.1264+396_1264+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG n.893+396_893+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG c.3531+396_3531+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3531+396_3531+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3522+396_3522+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3522+396_3522+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3549+396_3549+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3549+396_3549+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3546+396_3546+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3546+396_3546+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3528+396_3528+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3528+396_3528+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3471+396_3471+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3471+396_3471+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3405+396_3405+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3405+396_3405+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.1971+396_1971+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.1971+396_1971+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.1323+396_1323+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.1323+396_1323+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.1110+396_1110+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.1110+396_1110+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3384+396_3384+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3384+396_3384+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGCCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+396_3519+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3519+396_3519+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3525+396_3525+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3525+396_3525+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3441+396_3441+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3441+396_3441+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3426+396_3426+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3426+396_3426+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3369+396_3369+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3369+396_3369+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3303+396_3303+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3303+396_3303+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.2664+396_2664+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.2664+396_2664+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) c.3282+396_3282+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG (n.3282+396_3282+397insGCTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAG) | gnomAD v3 gnomAD v4 |
9 | g.137818536_137818537insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC | CA1130164420 | EHMT1 | c.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3540+398_3540+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.26+398_26+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC c.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3447+398_3447+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.4114+398_4114+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.4114+398_4114+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.521+398_521+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC c.1614+398_1614+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1614+398_1614+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.2397+398_2397+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.2397+398_2397+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.1264+398_1264+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC n.893+398_893+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC c.3531+398_3531+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3531+398_3531+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3522+398_3522+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3522+398_3522+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3549+398_3549+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3549+398_3549+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3546+398_3546+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3546+398_3546+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3528+398_3528+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3528+398_3528+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3471+398_3471+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3471+398_3471+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3405+398_3405+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3405+398_3405+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.1971+398_1971+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1971+398_1971+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.1323+398_1323+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1323+398_1323+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.1110+398_1110+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1110+398_1110+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3384+398_3384+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3384+398_3384+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACGGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+398_3519+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3519+398_3519+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3525+398_3525+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3525+398_3525+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3441+398_3441+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3441+398_3441+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3426+398_3426+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3426+398_3426+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3369+398_3369+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3369+398_3369+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3303+398_3303+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3303+398_3303+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.2664+398_2664+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.2664+398_2664+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3282+398_3282+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3282+398_3282+399insCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) | gnomAD v3 gnomAD v4 |
9 | g.137818536_137818537insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC | CA1130164418 | EHMT1 | c.3540+398_3540+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3540+398_3540+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.26+398_26+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC c.3447+398_3447+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3447+398_3447+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.4114+398_4114+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.4114+398_4114+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.521+398_521+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC c.1614+398_1614+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1614+398_1614+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.2397+398_2397+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.2397+398_2397+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.1264+398_1264+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC n.893+398_893+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC c.3531+398_3531+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3531+398_3531+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3522+398_3522+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3522+398_3522+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3549+398_3549+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3549+398_3549+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3546+398_3546+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3546+398_3546+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3528+398_3528+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3528+398_3528+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3471+398_3471+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3471+398_3471+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3405+398_3405+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3405+398_3405+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.1971+398_1971+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1971+398_1971+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.1323+398_1323+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1323+398_1323+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.1110+398_1110+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.1110+398_1110+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3384+398_3384+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3384+398_3384+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) n.5297-3919_5297-3918insCTCAGTCGGCCTCTCTACGGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+398_3519+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3519+398_3519+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3525+398_3525+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3525+398_3525+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3441+398_3441+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3441+398_3441+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3426+398_3426+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3426+398_3426+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3369+398_3369+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3369+398_3369+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3303+398_3303+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3303+398_3303+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.2664+398_2664+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.2664+398_2664+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) c.3282+398_3282+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC (n.3282+398_3282+399insCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGAC) | gnomAD v3 gnomAD v4 |
9 | g.137818537_137818538insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT | CA2541315324 | EHMT1 | c.3540+399_3540+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3540+399_3540+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) n.26+399_26+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT c.3447+399_3447+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3447+399_3447+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.4114+399_4114+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.4114+399_4114+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) n.521+399_521+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT c.1614+399_1614+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.1614+399_1614+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.2397+399_2397+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.2397+399_2397+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) n.1264+399_1264+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT n.893+399_893+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT c.3531+399_3531+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3531+399_3531+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3522+399_3522+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3522+399_3522+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3549+399_3549+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3549+399_3549+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3546+399_3546+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3546+399_3546+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3528+399_3528+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3528+399_3528+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3471+399_3471+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3471+399_3471+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3405+399_3405+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3405+399_3405+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.1971+399_1971+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.1971+399_1971+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.1323+399_1323+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.1323+399_1323+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.1110+399_1110+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.1110+399_1110+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3384+399_3384+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3384+399_3384+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTCAAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+399_3519+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3519+399_3519+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3525+399_3525+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3525+399_3525+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3441+399_3441+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3441+399_3441+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3426+399_3426+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3426+399_3426+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3369+399_3369+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3369+399_3369+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3303+399_3303+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3303+399_3303+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.2664+399_2664+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.2664+399_2664+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) c.3282+399_3282+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT (n.3282+399_3282+400insTGAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACT) | |
9 | g.137818540_137818541insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA | CA1130164421 | EHMT1 | c.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3540+402_3540+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) n.26+402_26+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA c.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3447+402_3447+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.4114+402_4114+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.4114+402_4114+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) n.521+402_521+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA c.1614+402_1614+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.1614+402_1614+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.2397+402_2397+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.2397+402_2397+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) n.1264+402_1264+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA n.893+402_893+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA c.3531+402_3531+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3531+402_3531+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3522+402_3522+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3522+402_3522+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3549+402_3549+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3549+402_3549+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3546+402_3546+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3546+402_3546+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3528+402_3528+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3528+402_3528+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3471+402_3471+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3471+402_3471+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3405+402_3405+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3405+402_3405+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.1971+402_1971+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.1971+402_1971+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.1323+402_1323+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.1323+402_1323+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.1110+402_1110+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.1110+402_1110+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3384+402_3384+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3384+402_3384+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) n.5297-3919_5297-3918insCTCAATCGGCCTCTTTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+402_3519+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3519+402_3519+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3525+402_3525+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3525+402_3525+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3441+402_3441+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3441+402_3441+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3426+402_3426+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3426+402_3426+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3369+402_3369+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3369+402_3369+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3303+402_3303+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3303+402_3303+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.2664+402_2664+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.2664+402_2664+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) c.3282+402_3282+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA (n.3282+402_3282+403insAAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTA) | gnomAD v3 gnomAD v4 |
9 | g.137818547_137818548insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC | CA2520908776 | EHMT1 | c.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3540+409_3540+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) n.26+409_26+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC c.3447+409_3447+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3447+409_3447+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.4114+409_4114+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.4114+409_4114+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) n.521+409_521+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC c.1614+409_1614+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.1614+409_1614+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.2397+409_2397+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.2397+409_2397+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) n.1264+409_1264+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC n.893+409_893+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC c.3531+409_3531+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3531+409_3531+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3522+409_3522+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3522+409_3522+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3549+409_3549+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3549+409_3549+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3546+409_3546+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3546+409_3546+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3528+409_3528+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3528+409_3528+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3471+409_3471+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3471+409_3471+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3405+409_3405+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3405+409_3405+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.1971+409_1971+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.1971+409_1971+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.1323+409_1323+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.1323+409_1323+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.1110+409_1110+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.1110+409_1110+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3384+409_3384+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3384+409_3384+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+409_3519+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3519+409_3519+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3525+409_3525+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3525+409_3525+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3441+409_3441+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3441+409_3441+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3426+409_3426+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3426+409_3426+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3369+409_3369+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3369+409_3369+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3303+409_3303+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3303+409_3303+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.2664+409_2664+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.2664+409_2664+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) c.3282+409_3282+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC (n.3282+409_3282+410insTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGC) | gnomAD v3 gnomAD v4 |
9 | g.137818548_137818549insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC | CA1130164424 | EHMT1 | c.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3540+410_3540+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) n.26+410_26+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC c.3447+410_3447+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3447+410_3447+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.4114+410_4114+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.4114+410_4114+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) n.521+410_521+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC c.1614+410_1614+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.1614+410_1614+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.2397+410_2397+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.2397+410_2397+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) n.1264+410_1264+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC n.893+410_893+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC c.3531+410_3531+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3531+410_3531+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3522+410_3522+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3522+410_3522+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3549+410_3549+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3549+410_3549+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3546+410_3546+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3546+410_3546+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3528+410_3528+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3528+410_3528+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3471+410_3471+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3471+410_3471+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3405+410_3405+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3405+410_3405+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.1971+410_1971+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.1971+410_1971+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.1323+410_1323+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.1323+410_1323+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.1110+410_1110+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.1110+410_1110+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3384+410_3384+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3384+410_3384+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) n.5297-3919_5297-3918insCTCAATTGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+410_3519+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3519+410_3519+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3525+410_3525+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3525+410_3525+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3441+410_3441+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3441+410_3441+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3426+410_3426+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3426+410_3426+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3369+410_3369+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3369+410_3369+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3303+410_3303+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3303+410_3303+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.2664+410_2664+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.2664+410_2664+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) c.3282+410_3282+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC (n.3282+410_3282+411insAATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCC) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA2786319795 | EHMT1 | c.3540+412_3540+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3919_5297-3918insCTCACTCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+412_3519+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insGTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | |
9 | g.137818550_137818551insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA591240813 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA1130164391 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACGGTCTCGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+412_3519+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA2786319790 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACGGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC c.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | |
9 | g.137818495_137818569del | CA1130164378 | EHMT1 | c.3540+357_3540+431del (n.3540+357_3540+431del) n.26+357_26+431del c.3447+357_3447+431del (n.3447+357_3447+431del) c.4114+357_4114+431del (n.4114+357_4114+431del) n.521+357_521+431del c.1614+357_1614+431del (n.1614+357_1614+431del) c.2397+357_2397+431del (n.2397+357_2397+431del) n.1264+357_1264+431del n.893+357_893+431del c.3531+357_3531+431del (n.3531+357_3531+431del) c.3522+357_3522+431del (n.3522+357_3522+431del) c.3549+357_3549+431del (n.3549+357_3549+431del) c.3546+357_3546+431del (n.3546+357_3546+431del) c.3528+357_3528+431del (n.3528+357_3528+431del) c.3471+357_3471+431del (n.3471+357_3471+431del) c.3405+357_3405+431del (n.3405+357_3405+431del) c.1971+357_1971+431del (n.1971+357_1971+431del) c.1323+357_1323+431del (n.1323+357_1323+431del) c.1110+357_1110+431del (n.1110+357_1110+431del) c.3384+357_3384+431del (n.3384+357_3384+431del) n.5297-3993_5297-3919del c.3519+357_3519+431del (n.3519+357_3519+431del) c.3525+357_3525+431del (n.3525+357_3525+431del) c.3441+357_3441+431del (n.3441+357_3441+431del) c.3426+357_3426+431del (n.3426+357_3426+431del) c.3369+357_3369+431del (n.3369+357_3369+431del) c.3303+357_3303+431del (n.3303+357_3303+431del) c.2664+357_2664+431del (n.2664+357_2664+431del) c.3282+357_3282+431del (n.3282+357_3282+431del) | gnomAD v3 gnomAD v4 |
9 | g.137818482G>T | CA2786319797 | EHMT1 | c.3540+344G>T (n.3540+344G>T) n.26+344G>T c.3447+344G>T (n.3447+344G>T) c.4114+344G>T (n.4114+344G>T) n.521+344G>T c.1614+344G>T (n.1614+344G>T) c.2397+344G>T (n.2397+344G>T) n.1264+344G>T n.893+344G>T c.3531+344G>T (n.3531+344G>T) c.3522+344G>T (n.3522+344G>T) c.3549+344G>T (n.3549+344G>T) c.3546+344G>T (n.3546+344G>T) c.3528+344G>T (n.3528+344G>T) c.3471+344G>T (n.3471+344G>T) c.3405+344G>T (n.3405+344G>T) c.1971+344G>T (n.1971+344G>T) c.1323+344G>T (n.1323+344G>T) c.1110+344G>T (n.1110+344G>T) c.3384+344G>T (n.3384+344G>T) n.5297-3920C>A c.3519+344G>T (n.3519+344G>T) c.3525+344G>T (n.3525+344G>T) c.3441+344G>T (n.3441+344G>T) c.3426+344G>T (n.3426+344G>T) c.3369+344G>T (n.3369+344G>T) c.3303+344G>T (n.3303+344G>T) c.2664+344G>T (n.2664+344G>T) c.3282+344G>T (n.3282+344G>T) | |
9 | g.137818550_137818551insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA1130164431 | EHMT1 | c.3540+412_3540+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3920_5297-3919insGCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCC c.3519+412_3519+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGCGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | gnomAD v3 gnomAD v4 |
9 | g.137818484C= | CA1884688570 | EHMT1 | c.3540+346C= (n.3540+346C=) n.26+346C= c.3447+346C= (n.3447+346C=) c.4114+346C= (n.4114+346C=) n.521+346C= c.1614+346C= (n.1614+346C=) c.2397+346C= (n.2397+346C=) n.1264+346C= n.893+346C= c.3531+346C= (n.3531+346C=) c.3522+346C= (n.3522+346C=) c.3549+346C= (n.3549+346C=) c.3546+346C= (n.3546+346C=) c.3528+346C= (n.3528+346C=) c.3471+346C= (n.3471+346C=) c.3405+346C= (n.3405+346C=) c.1971+346C= (n.1971+346C=) c.1323+346C= (n.1323+346C=) c.1110+346C= (n.1110+346C=) c.3384+346C= (n.3384+346C=) n.5297-3922G= c.3519+346C= (n.3519+346C=) c.3525+346C= (n.3525+346C=) c.3441+346C= (n.3441+346C=) c.3426+346C= (n.3426+346C=) c.3369+346C= (n.3369+346C=) c.3303+346C= (n.3303+346C=) c.2664+346C= (n.2664+346C=) c.3282+346C= (n.3282+346C=) | |
9 | g.137818484C>T | CA201800630 | EHMT1 | c.3540+346C>T (n.3540+346C>T) n.26+346C>T c.3447+346C>T (n.3447+346C>T) c.4114+346C>T (n.4114+346C>T) n.521+346C>T c.1614+346C>T (n.1614+346C>T) c.2397+346C>T (n.2397+346C>T) n.1264+346C>T n.893+346C>T c.3531+346C>T (n.3531+346C>T) c.3522+346C>T (n.3522+346C>T) c.3549+346C>T (n.3549+346C>T) c.3546+346C>T (n.3546+346C>T) c.3528+346C>T (n.3528+346C>T) c.3471+346C>T (n.3471+346C>T) c.3405+346C>T (n.3405+346C>T) c.1971+346C>T (n.1971+346C>T) c.1323+346C>T (n.1323+346C>T) c.1110+346C>T (n.1110+346C>T) c.3384+346C>T (n.3384+346C>T) n.5297-3922G>A c.3519+346C>T (n.3519+346C>T) c.3525+346C>T (n.3525+346C>T) c.3441+346C>T (n.3441+346C>T) c.3426+346C>T (n.3426+346C>T) c.3369+346C>T (n.3369+346C>T) c.3303+346C>T (n.3303+346C>T) c.2664+346C>T (n.2664+346C>T) c.3282+346C>T (n.3282+346C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818485G>A | CA1884688571 | EHMT1 | c.3540+347G>A (n.3540+347G>A) n.26+347G>A c.3447+347G>A (n.3447+347G>A) c.4114+347G>A (n.4114+347G>A) n.521+347G>A c.1614+347G>A (n.1614+347G>A) c.2397+347G>A (n.2397+347G>A) n.1264+347G>A n.893+347G>A c.3531+347G>A (n.3531+347G>A) c.3522+347G>A (n.3522+347G>A) c.3549+347G>A (n.3549+347G>A) c.3546+347G>A (n.3546+347G>A) c.3528+347G>A (n.3528+347G>A) c.3471+347G>A (n.3471+347G>A) c.3405+347G>A (n.3405+347G>A) c.1971+347G>A (n.1971+347G>A) c.1323+347G>A (n.1323+347G>A) c.1110+347G>A (n.1110+347G>A) c.3384+347G>A (n.3384+347G>A) n.5297-3923C>T c.3519+347G>A (n.3519+347G>A) c.3525+347G>A (n.3525+347G>A) c.3441+347G>A (n.3441+347G>A) c.3426+347G>A (n.3426+347G>A) c.3369+347G>A (n.3369+347G>A) c.3303+347G>A (n.3303+347G>A) c.2664+347G>A (n.2664+347G>A) c.3282+347G>A (n.3282+347G>A) | dbSNP |
9 | g.137818485G= | CA1884688572 | EHMT1 | c.3540+347G= (n.3540+347G=) n.26+347G= c.3447+347G= (n.3447+347G=) c.4114+347G= (n.4114+347G=) n.521+347G= c.1614+347G= (n.1614+347G=) c.2397+347G= (n.2397+347G=) n.1264+347G= n.893+347G= c.3531+347G= (n.3531+347G=) c.3522+347G= (n.3522+347G=) c.3549+347G= (n.3549+347G=) c.3546+347G= (n.3546+347G=) c.3528+347G= (n.3528+347G=) c.3471+347G= (n.3471+347G=) c.3405+347G= (n.3405+347G=) c.1971+347G= (n.1971+347G=) c.1323+347G= (n.1323+347G=) c.1110+347G= (n.1110+347G=) c.3384+347G= (n.3384+347G=) n.5297-3923C= c.3519+347G= (n.3519+347G=) c.3525+347G= (n.3525+347G=) c.3441+347G= (n.3441+347G=) c.3426+347G= (n.3426+347G=) c.3369+347G= (n.3369+347G=) c.3303+347G= (n.3303+347G=) c.2664+347G= (n.2664+347G=) c.3282+347G= (n.3282+347G=) | |
9 | g.137818486C>T | CA2786319798 | EHMT1 | c.3540+348C>T (n.3540+348C>T) n.26+348C>T c.3447+348C>T (n.3447+348C>T) c.4114+348C>T (n.4114+348C>T) n.521+348C>T c.1614+348C>T (n.1614+348C>T) c.2397+348C>T (n.2397+348C>T) n.1264+348C>T n.893+348C>T c.3531+348C>T (n.3531+348C>T) c.3522+348C>T (n.3522+348C>T) c.3549+348C>T (n.3549+348C>T) c.3546+348C>T (n.3546+348C>T) c.3528+348C>T (n.3528+348C>T) c.3471+348C>T (n.3471+348C>T) c.3405+348C>T (n.3405+348C>T) c.1971+348C>T (n.1971+348C>T) c.1323+348C>T (n.1323+348C>T) c.1110+348C>T (n.1110+348C>T) c.3384+348C>T (n.3384+348C>T) n.5297-3924G>A c.3519+348C>T (n.3519+348C>T) c.3525+348C>T (n.3525+348C>T) c.3441+348C>T (n.3441+348C>T) c.3426+348C>T (n.3426+348C>T) c.3369+348C>T (n.3369+348C>T) c.3303+348C>T (n.3303+348C>T) c.2664+348C>T (n.2664+348C>T) c.3282+348C>T (n.3282+348C>T) | |
9 | g.137818550_137818551insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA1130164436 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3924_5297-3923insTGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGG c.3519+412_3519+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCACCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | gnomAD v3 gnomAD v4 |
9 | g.137818487C= | CA1884688573 | EHMT1 | c.3540+349C= (n.3540+349C=) n.26+349C= c.3447+349C= (n.3447+349C=) c.4114+349C= (n.4114+349C=) n.521+349C= c.1614+349C= (n.1614+349C=) c.2397+349C= (n.2397+349C=) n.1264+349C= n.893+349C= c.3531+349C= (n.3531+349C=) c.3522+349C= (n.3522+349C=) c.3549+349C= (n.3549+349C=) c.3546+349C= (n.3546+349C=) c.3528+349C= (n.3528+349C=) c.3471+349C= (n.3471+349C=) c.3405+349C= (n.3405+349C=) c.1971+349C= (n.1971+349C=) c.1323+349C= (n.1323+349C=) c.1110+349C= (n.1110+349C=) c.3384+349C= (n.3384+349C=) n.5297-3925G= c.3519+349C= (n.3519+349C=) c.3525+349C= (n.3525+349C=) c.3441+349C= (n.3441+349C=) c.3426+349C= (n.3426+349C=) c.3369+349C= (n.3369+349C=) c.3303+349C= (n.3303+349C=) c.2664+349C= (n.2664+349C=) c.3282+349C= (n.3282+349C=) | |
9 | g.137818487C>T | CA201800635 | EHMT1 | c.3540+349C>T (n.3540+349C>T) n.26+349C>T c.3447+349C>T (n.3447+349C>T) c.4114+349C>T (n.4114+349C>T) n.521+349C>T c.1614+349C>T (n.1614+349C>T) c.2397+349C>T (n.2397+349C>T) n.1264+349C>T n.893+349C>T c.3531+349C>T (n.3531+349C>T) c.3522+349C>T (n.3522+349C>T) c.3549+349C>T (n.3549+349C>T) c.3546+349C>T (n.3546+349C>T) c.3528+349C>T (n.3528+349C>T) c.3471+349C>T (n.3471+349C>T) c.3405+349C>T (n.3405+349C>T) c.1971+349C>T (n.1971+349C>T) c.1323+349C>T (n.1323+349C>T) c.1110+349C>T (n.1110+349C>T) c.3384+349C>T (n.3384+349C>T) n.5297-3925G>A c.3519+349C>T (n.3519+349C>T) c.3525+349C>T (n.3525+349C>T) c.3441+349C>T (n.3441+349C>T) c.3426+349C>T (n.3426+349C>T) c.3369+349C>T (n.3369+349C>T) c.3303+349C>T (n.3303+349C>T) c.2664+349C>T (n.2664+349C>T) c.3282+349C>T (n.3282+349C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818488G>A | CA861206473 | EHMT1 | c.3540+350G>A (n.3540+350G>A) n.26+350G>A c.3447+350G>A (n.3447+350G>A) c.4114+350G>A (n.4114+350G>A) n.521+350G>A c.1614+350G>A (n.1614+350G>A) c.2397+350G>A (n.2397+350G>A) n.1264+350G>A n.893+350G>A c.3531+350G>A (n.3531+350G>A) c.3522+350G>A (n.3522+350G>A) c.3549+350G>A (n.3549+350G>A) c.3546+350G>A (n.3546+350G>A) c.3528+350G>A (n.3528+350G>A) c.3471+350G>A (n.3471+350G>A) c.3405+350G>A (n.3405+350G>A) c.1971+350G>A (n.1971+350G>A) c.1323+350G>A (n.1323+350G>A) c.1110+350G>A (n.1110+350G>A) c.3384+350G>A (n.3384+350G>A) n.5297-3926C>T c.3519+350G>A (n.3519+350G>A) c.3525+350G>A (n.3525+350G>A) c.3441+350G>A (n.3441+350G>A) c.3426+350G>A (n.3426+350G>A) c.3369+350G>A (n.3369+350G>A) c.3303+350G>A (n.3303+350G>A) c.2664+350G>A (n.2664+350G>A) c.3282+350G>A (n.3282+350G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818488G= | CA1884688574 | EHMT1 | c.3540+350G= (n.3540+350G=) n.26+350G= c.3447+350G= (n.3447+350G=) c.4114+350G= (n.4114+350G=) n.521+350G= c.1614+350G= (n.1614+350G=) c.2397+350G= (n.2397+350G=) n.1264+350G= n.893+350G= c.3531+350G= (n.3531+350G=) c.3522+350G= (n.3522+350G=) c.3549+350G= (n.3549+350G=) c.3546+350G= (n.3546+350G=) c.3528+350G= (n.3528+350G=) c.3471+350G= (n.3471+350G=) c.3405+350G= (n.3405+350G=) c.1971+350G= (n.1971+350G=) c.1323+350G= (n.1323+350G=) c.1110+350G= (n.1110+350G=) c.3384+350G= (n.3384+350G=) n.5297-3926C= c.3519+350G= (n.3519+350G=) c.3525+350G= (n.3525+350G=) c.3441+350G= (n.3441+350G=) c.3426+350G= (n.3426+350G=) c.3369+350G= (n.3369+350G=) c.3303+350G= (n.3303+350G=) c.2664+350G= (n.2664+350G=) c.3282+350G= (n.3282+350G=) | |
9 | g.137818488G>T | CA2786319799 | EHMT1 | c.3540+350G>T (n.3540+350G>T) n.26+350G>T c.3447+350G>T (n.3447+350G>T) c.4114+350G>T (n.4114+350G>T) n.521+350G>T c.1614+350G>T (n.1614+350G>T) c.2397+350G>T (n.2397+350G>T) n.1264+350G>T n.893+350G>T c.3531+350G>T (n.3531+350G>T) c.3522+350G>T (n.3522+350G>T) c.3549+350G>T (n.3549+350G>T) c.3546+350G>T (n.3546+350G>T) c.3528+350G>T (n.3528+350G>T) c.3471+350G>T (n.3471+350G>T) c.3405+350G>T (n.3405+350G>T) c.1971+350G>T (n.1971+350G>T) c.1323+350G>T (n.1323+350G>T) c.1110+350G>T (n.1110+350G>T) c.3384+350G>T (n.3384+350G>T) n.5297-3926C>A c.3519+350G>T (n.3519+350G>T) c.3525+350G>T (n.3525+350G>T) c.3441+350G>T (n.3441+350G>T) c.3426+350G>T (n.3426+350G>T) c.3369+350G>T (n.3369+350G>T) c.3303+350G>T (n.3303+350G>T) c.2664+350G>T (n.2664+350G>T) c.3282+350G>T (n.3282+350G>T) | |
9 | g.137818488_137818525delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA | CA1884688575 | EHMT1 | c.3540+350_3540+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3540+350_3540+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) n.26+350_26+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA c.3447+350_3447+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3447+350_3447+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.4114+350_4114+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.4114+350_4114+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) n.521+350_521+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA c.1614+350_1614+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.1614+350_1614+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.2397+350_2397+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.2397+350_2397+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) n.1264+350_1264+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA n.893+350_893+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA c.3531+350_3531+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3531+350_3531+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3522+350_3522+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3522+350_3522+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3549+350_3549+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3549+350_3549+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3546+350_3546+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3546+350_3546+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3528+350_3528+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3528+350_3528+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3471+350_3471+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3471+350_3471+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3405+350_3405+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3405+350_3405+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.1971+350_1971+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.1971+350_1971+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.1323+350_1323+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.1323+350_1323+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.1110+350_1110+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.1110+350_1110+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3384+350_3384+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3384+350_3384+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) n.5297-3963_5297-3926delinsTGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACAC c.3519+350_3519+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3519+350_3519+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3525+350_3525+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3525+350_3525+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3441+350_3441+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3441+350_3441+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3426+350_3426+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3426+350_3426+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3369+350_3369+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3369+350_3369+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3303+350_3303+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3303+350_3303+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.2664+350_2664+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.2664+350_2664+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) c.3282+350_3282+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA (n.3282+350_3282+387delinsGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCA) | |
9 | g.137818489T>C | CA2786319800 | EHMT1 | c.3540+351T>C (n.3540+351T>C) n.26+351T>C c.3447+351T>C (n.3447+351T>C) c.4114+351T>C (n.4114+351T>C) n.521+351T>C c.1614+351T>C (n.1614+351T>C) c.2397+351T>C (n.2397+351T>C) n.1264+351T>C n.893+351T>C c.3531+351T>C (n.3531+351T>C) c.3522+351T>C (n.3522+351T>C) c.3549+351T>C (n.3549+351T>C) c.3546+351T>C (n.3546+351T>C) c.3528+351T>C (n.3528+351T>C) c.3471+351T>C (n.3471+351T>C) c.3405+351T>C (n.3405+351T>C) c.1971+351T>C (n.1971+351T>C) c.1323+351T>C (n.1323+351T>C) c.1110+351T>C (n.1110+351T>C) c.3384+351T>C (n.3384+351T>C) n.5297-3927A>G c.3519+351T>C (n.3519+351T>C) c.3525+351T>C (n.3525+351T>C) c.3441+351T>C (n.3441+351T>C) c.3426+351T>C (n.3426+351T>C) c.3369+351T>C (n.3369+351T>C) c.3303+351T>C (n.3303+351T>C) c.2664+351T>C (n.2664+351T>C) c.3282+351T>C (n.3282+351T>C) | |
9 | g.137818495_137818531del | CA591240817 | EHMT1 | c.3540+357_3540+393del (n.3540+357_3540+393del) n.26+357_26+393del c.3447+357_3447+393del (n.3447+357_3447+393del) c.4114+357_4114+393del (n.4114+357_4114+393del) n.521+357_521+393del c.1614+357_1614+393del (n.1614+357_1614+393del) c.2397+357_2397+393del (n.2397+357_2397+393del) n.1264+357_1264+393del n.893+357_893+393del c.3531+357_3531+393del (n.3531+357_3531+393del) c.3522+357_3522+393del (n.3522+357_3522+393del) c.3549+357_3549+393del (n.3549+357_3549+393del) c.3546+357_3546+393del (n.3546+357_3546+393del) c.3528+357_3528+393del (n.3528+357_3528+393del) c.3471+357_3471+393del (n.3471+357_3471+393del) c.3405+357_3405+393del (n.3405+357_3405+393del) c.1971+357_1971+393del (n.1971+357_1971+393del) c.1323+357_1323+393del (n.1323+357_1323+393del) c.1110+357_1110+393del (n.1110+357_1110+393del) c.3384+357_3384+393del (n.3384+357_3384+393del) n.5297-3963_5297-3927del c.3519+357_3519+393del (n.3519+357_3519+393del) c.3525+357_3525+393del (n.3525+357_3525+393del) c.3441+357_3441+393del (n.3441+357_3441+393del) c.3426+357_3426+393del (n.3426+357_3426+393del) c.3369+357_3369+393del (n.3369+357_3369+393del) c.3303+357_3303+393del (n.3303+357_3303+393del) c.2664+357_2664+393del (n.2664+357_2664+393del) c.3282+357_3282+393del (n.3282+357_3282+393del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA1130164440 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3927_5297-3926insTGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACA c.3519+412_3519+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA2546027614 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3927_5297-3926insTGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACA c.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | |
9 | g.137818490G>A | CA1884688577 | EHMT1 | c.3540+352G>A (n.3540+352G>A) n.26+352G>A c.3447+352G>A (n.3447+352G>A) c.4114+352G>A (n.4114+352G>A) n.521+352G>A c.1614+352G>A (n.1614+352G>A) c.2397+352G>A (n.2397+352G>A) n.1264+352G>A n.893+352G>A c.3531+352G>A (n.3531+352G>A) c.3522+352G>A (n.3522+352G>A) c.3549+352G>A (n.3549+352G>A) c.3546+352G>A (n.3546+352G>A) c.3528+352G>A (n.3528+352G>A) c.3471+352G>A (n.3471+352G>A) c.3405+352G>A (n.3405+352G>A) c.1971+352G>A (n.1971+352G>A) c.1323+352G>A (n.1323+352G>A) c.1110+352G>A (n.1110+352G>A) c.3384+352G>A (n.3384+352G>A) n.5297-3928C>T c.3519+352G>A (n.3519+352G>A) c.3525+352G>A (n.3525+352G>A) c.3441+352G>A (n.3441+352G>A) c.3426+352G>A (n.3426+352G>A) c.3369+352G>A (n.3369+352G>A) c.3303+352G>A (n.3303+352G>A) c.2664+352G>A (n.2664+352G>A) c.3282+352G>A (n.3282+352G>A) | dbSNP |
9 | g.137818490G= | CA1884688576 | EHMT1 | c.3540+352G= (n.3540+352G=) n.26+352G= c.3447+352G= (n.3447+352G=) c.4114+352G= (n.4114+352G=) n.521+352G= c.1614+352G= (n.1614+352G=) c.2397+352G= (n.2397+352G=) n.1264+352G= n.893+352G= c.3531+352G= (n.3531+352G=) c.3522+352G= (n.3522+352G=) c.3549+352G= (n.3549+352G=) c.3546+352G= (n.3546+352G=) c.3528+352G= (n.3528+352G=) c.3471+352G= (n.3471+352G=) c.3405+352G= (n.3405+352G=) c.1971+352G= (n.1971+352G=) c.1323+352G= (n.1323+352G=) c.1110+352G= (n.1110+352G=) c.3384+352G= (n.3384+352G=) n.5297-3928C= c.3519+352G= (n.3519+352G=) c.3525+352G= (n.3525+352G=) c.3441+352G= (n.3441+352G=) c.3426+352G= (n.3426+352G=) c.3369+352G= (n.3369+352G=) c.3303+352G= (n.3303+352G=) c.2664+352G= (n.2664+352G=) c.3282+352G= (n.3282+352G=) | |
9 | g.137818550_137818551insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA1130164441 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3929_5297-3928insGACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTA c.3519+412_3519+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCGTCTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818492A>G | CA1130164442 | EHMT1 | c.3540+354A>G (n.3540+354A>G) n.26+354A>G c.3447+354A>G (n.3447+354A>G) c.4114+354A>G (n.4114+354A>G) n.521+354A>G c.1614+354A>G (n.1614+354A>G) c.2397+354A>G (n.2397+354A>G) n.1264+354A>G n.893+354A>G c.3531+354A>G (n.3531+354A>G) c.3522+354A>G (n.3522+354A>G) c.3549+354A>G (n.3549+354A>G) c.3546+354A>G (n.3546+354A>G) c.3528+354A>G (n.3528+354A>G) c.3471+354A>G (n.3471+354A>G) c.3405+354A>G (n.3405+354A>G) c.1971+354A>G (n.1971+354A>G) c.1323+354A>G (n.1323+354A>G) c.1110+354A>G (n.1110+354A>G) c.3384+354A>G (n.3384+354A>G) n.5297-3930T>C c.3519+354A>G (n.3519+354A>G) c.3525+354A>G (n.3525+354A>G) c.3441+354A>G (n.3441+354A>G) c.3426+354A>G (n.3426+354A>G) c.3369+354A>G (n.3369+354A>G) c.3303+354A>G (n.3303+354A>G) c.2664+354A>G (n.2664+354A>G) c.3282+354A>G (n.3282+354A>G) | gnomAD v3 gnomAD v4 |
9 | g.137818493C= | CA1884688578 | EHMT1 | c.3540+355C= (n.3540+355C=) n.26+355C= c.3447+355C= (n.3447+355C=) c.4114+355C= (n.4114+355C=) n.521+355C= c.1614+355C= (n.1614+355C=) c.2397+355C= (n.2397+355C=) n.1264+355C= n.893+355C= c.3531+355C= (n.3531+355C=) c.3522+355C= (n.3522+355C=) c.3549+355C= (n.3549+355C=) c.3546+355C= (n.3546+355C=) c.3528+355C= (n.3528+355C=) c.3471+355C= (n.3471+355C=) c.3405+355C= (n.3405+355C=) c.1971+355C= (n.1971+355C=) c.1323+355C= (n.1323+355C=) c.1110+355C= (n.1110+355C=) c.3384+355C= (n.3384+355C=) n.5297-3931G= c.3519+355C= (n.3519+355C=) c.3525+355C= (n.3525+355C=) c.3441+355C= (n.3441+355C=) c.3426+355C= (n.3426+355C=) c.3369+355C= (n.3369+355C=) c.3303+355C= (n.3303+355C=) c.2664+355C= (n.2664+355C=) c.3282+355C= (n.3282+355C=) | |
9 | g.137818493C>T | CA861206497 | EHMT1 | c.3540+355C>T (n.3540+355C>T) n.26+355C>T c.3447+355C>T (n.3447+355C>T) c.4114+355C>T (n.4114+355C>T) n.521+355C>T c.1614+355C>T (n.1614+355C>T) c.2397+355C>T (n.2397+355C>T) n.1264+355C>T n.893+355C>T c.3531+355C>T (n.3531+355C>T) c.3522+355C>T (n.3522+355C>T) c.3549+355C>T (n.3549+355C>T) c.3546+355C>T (n.3546+355C>T) c.3528+355C>T (n.3528+355C>T) c.3471+355C>T (n.3471+355C>T) c.3405+355C>T (n.3405+355C>T) c.1971+355C>T (n.1971+355C>T) c.1323+355C>T (n.1323+355C>T) c.1110+355C>T (n.1110+355C>T) c.3384+355C>T (n.3384+355C>T) n.5297-3931G>A c.3519+355C>T (n.3519+355C>T) c.3525+355C>T (n.3525+355C>T) c.3441+355C>T (n.3441+355C>T) c.3426+355C>T (n.3426+355C>T) c.3369+355C>T (n.3369+355C>T) c.3303+355C>T (n.3303+355C>T) c.2664+355C>T (n.2664+355C>T) c.3282+355C>T (n.3282+355C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818494C= | CA1884688579 | EHMT1 | c.3540+356C= (n.3540+356C=) n.26+356C= c.3447+356C= (n.3447+356C=) c.4114+356C= (n.4114+356C=) n.521+356C= c.1614+356C= (n.1614+356C=) c.2397+356C= (n.2397+356C=) n.1264+356C= n.893+356C= c.3531+356C= (n.3531+356C=) c.3522+356C= (n.3522+356C=) c.3549+356C= (n.3549+356C=) c.3546+356C= (n.3546+356C=) c.3528+356C= (n.3528+356C=) c.3471+356C= (n.3471+356C=) c.3405+356C= (n.3405+356C=) c.1971+356C= (n.1971+356C=) c.1323+356C= (n.1323+356C=) c.1110+356C= (n.1110+356C=) c.3384+356C= (n.3384+356C=) n.5297-3932G= c.3519+356C= (n.3519+356C=) c.3525+356C= (n.3525+356C=) c.3441+356C= (n.3441+356C=) c.3426+356C= (n.3426+356C=) c.3369+356C= (n.3369+356C=) c.3303+356C= (n.3303+356C=) c.2664+356C= (n.2664+356C=) c.3282+356C= (n.3282+356C=) | |
9 | g.137818494C>T | CA201800647 | EHMT1 | c.3540+356C>T (n.3540+356C>T) n.26+356C>T c.3447+356C>T (n.3447+356C>T) c.4114+356C>T (n.4114+356C>T) n.521+356C>T c.1614+356C>T (n.1614+356C>T) c.2397+356C>T (n.2397+356C>T) n.1264+356C>T n.893+356C>T c.3531+356C>T (n.3531+356C>T) c.3522+356C>T (n.3522+356C>T) c.3549+356C>T (n.3549+356C>T) c.3546+356C>T (n.3546+356C>T) c.3528+356C>T (n.3528+356C>T) c.3471+356C>T (n.3471+356C>T) c.3405+356C>T (n.3405+356C>T) c.1971+356C>T (n.1971+356C>T) c.1323+356C>T (n.1323+356C>T) c.1110+356C>T (n.1110+356C>T) c.3384+356C>T (n.3384+356C>T) n.5297-3932G>A c.3519+356C>T (n.3519+356C>T) c.3525+356C>T (n.3525+356C>T) c.3441+356C>T (n.3441+356C>T) c.3426+356C>T (n.3426+356C>T) c.3369+356C>T (n.3369+356C>T) c.3303+356C>T (n.3303+356C>T) c.2664+356C>T (n.2664+356C>T) c.3282+356C>T (n.3282+356C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818494_137818495insG | CA1130164446 | EHMT1 | c.3540+356_3540+357insG (n.3540+356_3540+357insG) n.26+356_26+357insG c.3447+356_3447+357insG (n.3447+356_3447+357insG) c.4114+356_4114+357insG (n.4114+356_4114+357insG) n.521+356_521+357insG c.1614+356_1614+357insG (n.1614+356_1614+357insG) c.2397+356_2397+357insG (n.2397+356_2397+357insG) n.1264+356_1264+357insG n.893+356_893+357insG c.3531+356_3531+357insG (n.3531+356_3531+357insG) c.3522+356_3522+357insG (n.3522+356_3522+357insG) c.3549+356_3549+357insG (n.3549+356_3549+357insG) c.3546+356_3546+357insG (n.3546+356_3546+357insG) c.3528+356_3528+357insG (n.3528+356_3528+357insG) c.3471+356_3471+357insG (n.3471+356_3471+357insG) c.3405+356_3405+357insG (n.3405+356_3405+357insG) c.1971+356_1971+357insG (n.1971+356_1971+357insG) c.1323+356_1323+357insG (n.1323+356_1323+357insG) c.1110+356_1110+357insG (n.1110+356_1110+357insG) c.3384+356_3384+357insG (n.3384+356_3384+357insG) n.5297-3933_5297-3932insC c.3519+356_3519+357insG (n.3519+356_3519+357insG) c.3525+356_3525+357insG (n.3525+356_3525+357insG) c.3441+356_3441+357insG (n.3441+356_3441+357insG) c.3426+356_3426+357insG (n.3426+356_3426+357insG) c.3369+356_3369+357insG (n.3369+356_3369+357insG) c.3303+356_3303+357insG (n.3303+356_3303+357insG) c.2664+356_2664+357insG (n.2664+356_2664+357insG) c.3282+356_3282+357insG (n.3282+356_3282+357insG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818495A= | CA1884688580 | EHMT1 | c.3540+357A= (n.3540+357A=) n.26+357A= c.3447+357A= (n.3447+357A=) c.4114+357A= (n.4114+357A=) n.521+357A= c.1614+357A= (n.1614+357A=) c.2397+357A= (n.2397+357A=) n.1264+357A= n.893+357A= c.3531+357A= (n.3531+357A=) c.3522+357A= (n.3522+357A=) c.3549+357A= (n.3549+357A=) c.3546+357A= (n.3546+357A=) c.3528+357A= (n.3528+357A=) c.3471+357A= (n.3471+357A=) c.3405+357A= (n.3405+357A=) c.1971+357A= (n.1971+357A=) c.1323+357A= (n.1323+357A=) c.1110+357A= (n.1110+357A=) c.3384+357A= (n.3384+357A=) n.5297-3933T= c.3519+357A= (n.3519+357A=) c.3525+357A= (n.3525+357A=) c.3441+357A= (n.3441+357A=) c.3426+357A= (n.3426+357A=) c.3369+357A= (n.3369+357A=) c.3303+357A= (n.3303+357A=) c.2664+357A= (n.2664+357A=) c.3282+357A= (n.3282+357A=) | |
9 | g.137818495A>G | CA16376765 | EHMT1 | c.3540+357A>G (n.3540+357A>G) n.26+357A>G c.3447+357A>G (n.3447+357A>G) c.4114+357A>G (n.4114+357A>G) n.521+357A>G c.1614+357A>G (n.1614+357A>G) c.2397+357A>G (n.2397+357A>G) n.1264+357A>G n.893+357A>G c.3531+357A>G (n.3531+357A>G) c.3522+357A>G (n.3522+357A>G) c.3549+357A>G (n.3549+357A>G) c.3546+357A>G (n.3546+357A>G) c.3528+357A>G (n.3528+357A>G) c.3471+357A>G (n.3471+357A>G) c.3405+357A>G (n.3405+357A>G) c.1971+357A>G (n.1971+357A>G) c.1323+357A>G (n.1323+357A>G) c.1110+357A>G (n.1110+357A>G) c.3384+357A>G (n.3384+357A>G) n.5297-3933T>C c.3519+357A>G (n.3519+357A>G) c.3525+357A>G (n.3525+357A>G) c.3441+357A>G (n.3441+357A>G) c.3426+357A>G (n.3426+357A>G) c.3369+357A>G (n.3369+357A>G) c.3303+357A>G (n.3303+357A>G) c.2664+357A>G (n.2664+357A>G) c.3282+357A>G (n.3282+357A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818495_137818532delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG | CA1884688581 | EHMT1 | c.3540+357_3540+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3540+357_3540+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.26+357_26+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG c.3447+357_3447+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3447+357_3447+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.4114+357_4114+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.4114+357_4114+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.521+357_521+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG c.1614+357_1614+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1614+357_1614+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.2397+357_2397+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.2397+357_2397+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.1264+357_1264+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG n.893+357_893+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG c.3531+357_3531+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3531+357_3531+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3522+357_3522+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3522+357_3522+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3549+357_3549+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3549+357_3549+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3546+357_3546+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3546+357_3546+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3528+357_3528+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3528+357_3528+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3471+357_3471+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3471+357_3471+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3405+357_3405+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3405+357_3405+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.1971+357_1971+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1971+357_1971+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.1323+357_1323+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1323+357_1323+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.1110+357_1110+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1110+357_1110+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3384+357_3384+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3384+357_3384+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.5297-3970_5297-3933delinsCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTT c.3519+357_3519+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3519+357_3519+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3525+357_3525+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3525+357_3525+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3441+357_3441+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3441+357_3441+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3426+357_3426+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3426+357_3426+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3369+357_3369+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3369+357_3369+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3303+357_3303+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3303+357_3303+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.2664+357_2664+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.2664+357_2664+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3282+357_3282+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3282+357_3282+394delinsAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) | |
9 | g.137818495_137818496insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG | CA1884688582 | EHMT1 | c.3540+357_3540+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3540+357_3540+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.26+357_26+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG c.3447+357_3447+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3447+357_3447+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.4114+357_4114+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.4114+357_4114+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.521+357_521+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG c.1614+357_1614+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1614+357_1614+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.2397+357_2397+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.2397+357_2397+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.1264+357_1264+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG n.893+357_893+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG c.3531+357_3531+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3531+357_3531+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3522+357_3522+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3522+357_3522+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3549+357_3549+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3549+357_3549+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3546+357_3546+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3546+357_3546+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3528+357_3528+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3528+357_3528+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3471+357_3471+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3471+357_3471+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3405+357_3405+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3405+357_3405+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.1971+357_1971+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1971+357_1971+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.1323+357_1323+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1323+357_1323+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.1110+357_1110+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.1110+357_1110+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3384+357_3384+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3384+357_3384+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) n.5297-3934_5297-3933insCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTC c.3519+357_3519+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3519+357_3519+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3525+357_3525+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3525+357_3525+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3441+357_3441+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3441+357_3441+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3426+357_3426+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3426+357_3426+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3369+357_3369+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3369+357_3369+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3303+357_3303+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3303+357_3303+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.2664+357_2664+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.2664+357_2664+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) c.3282+357_3282+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG (n.3282+357_3282+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCG) | dbSNP |
9 | g.137818495_137818496insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG | CA1130164447 | EHMT1 | c.3540+357_3540+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3540+357_3540+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.26+357_26+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG c.3447+357_3447+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3447+357_3447+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.4114+357_4114+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.4114+357_4114+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.521+357_521+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG c.1614+357_1614+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1614+357_1614+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.2397+357_2397+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.2397+357_2397+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.1264+357_1264+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG n.893+357_893+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG c.3531+357_3531+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3531+357_3531+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3522+357_3522+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3522+357_3522+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3549+357_3549+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3549+357_3549+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3546+357_3546+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3546+357_3546+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3528+357_3528+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3528+357_3528+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3471+357_3471+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3471+357_3471+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3405+357_3405+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3405+357_3405+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.1971+357_1971+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1971+357_1971+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.1323+357_1323+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1323+357_1323+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.1110+357_1110+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1110+357_1110+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3384+357_3384+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3384+357_3384+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.5297-3934_5297-3933insCGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTC c.3519+357_3519+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3519+357_3519+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3525+357_3525+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3525+357_3525+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3441+357_3441+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3441+357_3441+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3426+357_3426+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3426+357_3426+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3369+357_3369+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3369+357_3369+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3303+357_3303+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3303+357_3303+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.2664+357_2664+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.2664+357_2664+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3282+357_3282+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3282+357_3282+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818495_137818496insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG | CA1130164448 | EHMT1 | c.3540+357_3540+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3540+357_3540+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.26+357_26+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG c.3447+357_3447+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3447+357_3447+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.4114+357_4114+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.4114+357_4114+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.521+357_521+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG c.1614+357_1614+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1614+357_1614+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.2397+357_2397+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.2397+357_2397+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.1264+357_1264+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG n.893+357_893+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG c.3531+357_3531+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3531+357_3531+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3522+357_3522+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3522+357_3522+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3549+357_3549+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3549+357_3549+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3546+357_3546+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3546+357_3546+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3528+357_3528+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3528+357_3528+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3471+357_3471+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3471+357_3471+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3405+357_3405+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3405+357_3405+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.1971+357_1971+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1971+357_1971+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.1323+357_1323+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1323+357_1323+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.1110+357_1110+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.1110+357_1110+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3384+357_3384+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3384+357_3384+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) n.5297-3934_5297-3933insCGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTTGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTC c.3519+357_3519+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3519+357_3519+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3525+357_3525+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3525+357_3525+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3441+357_3441+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3441+357_3441+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3426+357_3426+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3426+357_3426+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3369+357_3369+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3369+357_3369+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3303+357_3303+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3303+357_3303+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.2664+357_2664+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.2664+357_2664+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) c.3282+357_3282+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG (n.3282+357_3282+358insGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCAAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818496A>G | CA2786319802 | EHMT1 | c.3540+358A>G (n.3540+358A>G) n.26+358A>G c.3447+358A>G (n.3447+358A>G) c.4114+358A>G (n.4114+358A>G) n.521+358A>G c.1614+358A>G (n.1614+358A>G) c.2397+358A>G (n.2397+358A>G) n.1264+358A>G n.893+358A>G c.3531+358A>G (n.3531+358A>G) c.3522+358A>G (n.3522+358A>G) c.3549+358A>G (n.3549+358A>G) c.3546+358A>G (n.3546+358A>G) c.3528+358A>G (n.3528+358A>G) c.3471+358A>G (n.3471+358A>G) c.3405+358A>G (n.3405+358A>G) c.1971+358A>G (n.1971+358A>G) c.1323+358A>G (n.1323+358A>G) c.1110+358A>G (n.1110+358A>G) c.3384+358A>G (n.3384+358A>G) n.5297-3934T>C c.3519+358A>G (n.3519+358A>G) c.3525+358A>G (n.3525+358A>G) c.3441+358A>G (n.3441+358A>G) c.3426+358A>G (n.3426+358A>G) c.3369+358A>G (n.3369+358A>G) c.3303+358A>G (n.3303+358A>G) c.2664+358A>G (n.2664+358A>G) c.3282+358A>G (n.3282+358A>G) | |
9 | g.137818512_137818513insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG | CA2500999583 | EHMT1 | c.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) n.26+374_26+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG c.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.4114+374_4114+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.4114+374_4114+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) n.521+374_521+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG c.1614+374_1614+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.1614+374_1614+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.2397+374_2397+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.2397+374_2397+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) n.1264+374_1264+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG n.893+374_893+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG c.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) n.5297-3934_5297-3933insCGGTACATGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCACAGCCTCTCTACAGTCT c.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) c.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG (n.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTG) | |
9 | g.137818512_137818513insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG | CA1130164449 | EHMT1 | c.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3540+374_3540+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) n.26+374_26+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG c.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3447+374_3447+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.4114+374_4114+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.4114+374_4114+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) n.521+374_521+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG c.1614+374_1614+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.1614+374_1614+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.2397+374_2397+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.2397+374_2397+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) n.1264+374_1264+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG n.893+374_893+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG c.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3531+374_3531+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3522+374_3522+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3549+374_3549+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3546+374_3546+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3528+374_3528+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3471+374_3471+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3405+374_3405+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.1971+374_1971+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.1323+374_1323+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.1110+374_1110+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3384+374_3384+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) n.5297-3934_5297-3933insCGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCACAGCCTCTCTACAGTCT c.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3519+374_3519+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3525+374_3525+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3441+374_3441+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3426+374_3426+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3369+374_3369+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3303+374_3303+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.2664+374_2664+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) c.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG (n.3282+374_3282+375insTGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTG) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818511_137818547dup | CA1130164453 | EHMT1 | c.3540+373_3540+409dup (n.3540+373_3540+409dup) n.26+373_26+409dup c.3447+373_3447+409dup (n.3447+373_3447+409dup) c.4114+373_4114+409dup (n.4114+373_4114+409dup) n.521+373_521+409dup c.1614+373_1614+409dup (n.1614+373_1614+409dup) c.2397+373_2397+409dup (n.2397+373_2397+409dup) n.1264+373_1264+409dup n.893+373_893+409dup c.3531+373_3531+409dup (n.3531+373_3531+409dup) c.3522+373_3522+409dup (n.3522+373_3522+409dup) c.3549+373_3549+409dup (n.3549+373_3549+409dup) c.3546+373_3546+409dup (n.3546+373_3546+409dup) c.3528+373_3528+409dup (n.3528+373_3528+409dup) c.3471+373_3471+409dup (n.3471+373_3471+409dup) c.3405+373_3405+409dup (n.3405+373_3405+409dup) c.1971+373_1971+409dup (n.1971+373_1971+409dup) c.1323+373_1323+409dup (n.1323+373_1323+409dup) c.1110+373_1110+409dup (n.1110+373_1110+409dup) c.3384+373_3384+409dup (n.3384+373_3384+409dup) n.5297-3970_5297-3934dup c.3519+373_3519+409dup (n.3519+373_3519+409dup) c.3525+373_3525+409dup (n.3525+373_3525+409dup) c.3441+373_3441+409dup (n.3441+373_3441+409dup) c.3426+373_3426+409dup (n.3426+373_3426+409dup) c.3369+373_3369+409dup (n.3369+373_3369+409dup) c.3303+373_3303+409dup (n.3303+373_3303+409dup) c.2664+373_2664+409dup (n.2664+373_2664+409dup) c.3282+373_3282+409dup (n.3282+373_3282+409dup) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818511_137818547del | CA861206501 | EHMT1 | c.3540+373_3540+409del (n.3540+373_3540+409del) n.26+373_26+409del c.3447+373_3447+409del (n.3447+373_3447+409del) c.4114+373_4114+409del (n.4114+373_4114+409del) n.521+373_521+409del c.1614+373_1614+409del (n.1614+373_1614+409del) c.2397+373_2397+409del (n.2397+373_2397+409del) n.1264+373_1264+409del n.893+373_893+409del c.3531+373_3531+409del (n.3531+373_3531+409del) c.3522+373_3522+409del (n.3522+373_3522+409del) c.3549+373_3549+409del (n.3549+373_3549+409del) c.3546+373_3546+409del (n.3546+373_3546+409del) c.3528+373_3528+409del (n.3528+373_3528+409del) c.3471+373_3471+409del (n.3471+373_3471+409del) c.3405+373_3405+409del (n.3405+373_3405+409del) c.1971+373_1971+409del (n.1971+373_1971+409del) c.1323+373_1323+409del (n.1323+373_1323+409del) c.1110+373_1110+409del (n.1110+373_1110+409del) c.3384+373_3384+409del (n.3384+373_3384+409del) n.5297-3970_5297-3934del c.3519+373_3519+409del (n.3519+373_3519+409del) c.3525+373_3525+409del (n.3525+373_3525+409del) c.3441+373_3441+409del (n.3441+373_3441+409del) c.3426+373_3426+409del (n.3426+373_3426+409del) c.3369+373_3369+409del (n.3369+373_3369+409del) c.3303+373_3303+409del (n.3303+373_3303+409del) c.2664+373_2664+409del (n.2664+373_2664+409del) c.3282+373_3282+409del (n.3282+373_3282+409del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA591240822 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3934_5297-3933insCGGTACATGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCT c.3519+412_3519+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCATGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA591240823 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3934_5297-3933insCGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCT c.3519+412_3519+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.137818550_137818551insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA | CA2786319801 | EHMT1 | c.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3540+412_3540+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.26+412_26+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3447+412_3447+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.4114+412_4114+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.521+412_521+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1614+412_1614+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2397+412_2397+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.1264+412_1264+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA n.893+412_893+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA c.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3531+412_3531+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3522+412_3522+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3549+412_3549+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3546+412_3546+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3528+412_3528+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3471+412_3471+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3405+412_3405+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1971+412_1971+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1323+412_1323+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.1110+412_1110+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3384+412_3384+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) n.5297-3934_5297-3933insCGGTACACGGCGCCCCTCAGTCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCCCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGCCCCCCCTCAGCCTCTCTACAGTCT c.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3519+412_3519+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3525+412_3525+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3441+412_3441+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3426+412_3426+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3369+412_3369+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3303+412_3303+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.2664+412_2664+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) c.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA (n.3282+412_3282+413insTTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCTGAGGGGGGGCGCCATGTACCGAGACTGTAGAGAGGCCGA) | |
9 | g.137818500_137818574dup | CA1130164451 | EHMT1 | c.3540+362_3540+436dup (n.3540+362_3540+436dup) n.26+362_26+436dup c.3447+362_3447+436dup (n.3447+362_3447+436dup) c.4114+362_4114+436dup (n.4114+362_4114+436dup) n.521+362_521+436dup c.1614+362_1614+436dup (n.1614+362_1614+436dup) c.2397+362_2397+436dup (n.2397+362_2397+436dup) n.1264+362_1264+436dup n.893+362_893+436dup c.3531+362_3531+436dup (n.3531+362_3531+436dup) c.3522+362_3522+436dup (n.3522+362_3522+436dup) c.3549+362_3549+436dup (n.3549+362_3549+436dup) c.3546+362_3546+436dup (n.3546+362_3546+436dup) c.3528+362_3528+436dup (n.3528+362_3528+436dup) c.3471+362_3471+436dup (n.3471+362_3471+436dup) c.3405+362_3405+436dup (n.3405+362_3405+436dup) c.1971+362_1971+436dup (n.1971+362_1971+436dup) c.1323+362_1323+436dup (n.1323+362_1323+436dup) c.1110+362_1110+436dup (n.1110+362_1110+436dup) c.3384+362_3384+436dup (n.3384+362_3384+436dup) n.5297-4008_5297-3934dup c.3519+362_3519+436dup (n.3519+362_3519+436dup) c.3525+362_3525+436dup (n.3525+362_3525+436dup) c.3441+362_3441+436dup (n.3441+362_3441+436dup) c.3426+362_3426+436dup (n.3426+362_3426+436dup) c.3369+362_3369+436dup (n.3369+362_3369+436dup) c.3303+362_3303+436dup (n.3303+362_3303+436dup) c.2664+362_2664+436dup (n.2664+362_2664+436dup) c.3282+362_3282+436dup (n.3282+362_3282+436dup) | gnomAD v3 gnomAD v4 |