Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60741661C>A | CA371296585 | CHD7 | n.742C>A c.229C>A (p.Gln77Lys) | |
8 | g.60741661C>G | CA371296587 | CHD7 | n.742C>G c.229C>G (p.Gln77Glu) | |
8 | g.60741661C>T | CA371296591 | CHD7 | n.742C>T c.229C>T (p.Gln77Ter) | |
8 | g.60741662A>C | CA371296594 | CHD7 | n.743A>C c.230A>C (p.Gln77Pro) | |
8 | g.60741662A>G | CA371296597 | CHD7 | n.743A>G c.230A>G (p.Gln77Arg) | |
8 | g.60741662A>T | CA371296600 | CHD7 | n.743A>T c.230A>T (p.Gln77Leu) | |
8 | g.60741663A>C | CA371296609 | CHD7 | n.744A>C c.231A>C (p.Gln77His) | |
8 | g.60741663A>G | CA461103157 | CHD7 | n.744A>G c.231A>G (p.Gln77=) | |
8 | g.60741663A>T | CA371296612 | CHD7 | n.744A>T c.231A>T (p.Gln77His) | |
8 | g.60741664C>A | CA371296622 | CHD7 | n.745C>A c.232C>A (p.Gln78Lys) | |
8 | g.60741664C>G | CA371296619 | CHD7 | n.745C>G c.232C>G (p.Gln78Glu) | |
8 | g.60741664C>T | CA371296616 | CHD7 | n.745C>T c.232C>T (p.Gln78Ter) | ClinVar dbSNP |
8 | g.60741665A>C | CA371296625 | CHD7 | n.746A>C c.233A>C (p.Gln78Pro) | |
8 | g.60741665A>G | CA371296629 | CHD7 | n.746A>G c.233A>G (p.Gln78Arg) | |
8 | g.60741665A>T | CA371296632 | CHD7 | n.746A>T c.233A>T (p.Gln78Leu) | |
8 | g.60741666A= | CA1788094676 | CHD7 | n.747A= c.234A= (p.Gln78=) | |
8 | g.60741666A>C | CA371296635 | CHD7 | n.747A>C c.234A>C (p.Gln78His) | |
8 | g.60741666A>G | CA4759277 | CHD7 | n.747A>G c.234A>G (p.Gln78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60741666A>T | CA371296640 | CHD7 | n.747A>T c.234A>T (p.Gln78His) | |
8 | g.60741667A>C | CA371296644 | CHD7 | n.748A>C c.235A>C (p.Lys79Gln) | |
8 | g.60741667A>G | CA371296646 | CHD7 | n.748A>G c.235A>G (p.Lys79Glu) | ClinVar dbSNP gnomAD v4 |
8 | g.60741667A>T | CA371296653 | CHD7 | n.748A>T c.235A>T (p.Lys79Ter) | |
8 | g.60741668A= | CA1788094680 | CHD7 | n.749A= c.236A= (p.Lys79=) | |
8 | g.60741668A>C | CA371296657 | CHD7 | n.749A>C c.236A>C (p.Lys79Thr) | |
8 | g.60741668A>G | CA16618650 | CHD7 | n.749A>G c.236A>G (p.Lys79Arg) | ClinVar dbSNP |
8 | g.60741668A>T | CA371296659 | CHD7 | n.749A>T c.236A>T (p.Lys79Met) | |
8 | g.60741669G>A | CA461103169 | CHD7 | n.750G>A c.237G>A (p.Lys79=) | |
8 | g.60741669G>C | CA371296661 | CHD7 | n.750G>C c.237G>C (p.Lys79Asn) | |
8 | g.60741669G>T | CA371296663 | CHD7 | n.750G>T c.237G>T (p.Lys79Asn) | |
8 | g.60741670A= | CA1788094683 | CHD7 | n.751A= c.238A= (p.Met80=) | |
8 | g.60741670A>C | CA371296667 | CHD7 | n.751A>C c.238A>C (p.Met80Leu) | |
8 | g.60741670A>G | CA371296676 | CHD7 | n.751A>G c.238A>G (p.Met80Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.60741670A>T | CA4759278 | CHD7 | n.751A>T c.238A>T (p.Met80Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741671T>A | CA371296678 | CHD7 | n.752T>A c.239T>A (p.Met80Lys) | |
8 | g.60741671T>C | CA371296680 | CHD7 | n.752T>C c.239T>C (p.Met80Thr) | gnomAD v4 |
8 | g.60741671T>G | CA371296683 | CHD7 | n.752T>G c.239T>G (p.Met80Arg) | ClinVar |
8 | g.60741672G>A | CA241702 | CHD7 | n.753G>A c.240G>A (p.Met80Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741672G>C | CA371296691 | CHD7 | n.753G>C c.240G>C (p.Met80Ile) | |
8 | g.60741672G= | CA1788094692 | CHD7 | n.753G= c.240G= (p.Met80=) | |
8 | g.60741672G>T | CA371296696 | CHD7 | n.753G>T c.240G>T (p.Met80Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60741673C>A | CA371296699 | CHD7 | n.754C>A c.241C>A (p.His81Asn) | |
8 | g.60741673C>G | CA371296701 | CHD7 | n.754C>G c.241C>G (p.His81Asp) | |
8 | g.60741673C>T | CA371296705 | CHD7 | n.754C>T c.241C>T (p.His81Tyr) | gnomAD v4 |
8 | g.60741674A= | CA1788094697 | CHD7 | n.755A= c.242A= (p.His81=) | |
8 | g.60741674A>C | CA371296710 | CHD7 | n.755A>C c.242A>C (p.His81Pro) | |
8 | g.60741674A>G | CA4759279 | CHD7 | n.755A>G c.242A>G (p.His81Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741674A>T | CA371296712 | CHD7 | n.755A>T c.242A>T (p.His81Leu) | |
8 | g.60741675T>A | CA371296719 | CHD7 | n.756T>A c.243T>A (p.His81Gln) | |
8 | g.60741675T>C | CA461103184 | CHD7 | n.756T>C c.243T>C (p.His81=) | gnomAD v4 |
8 | g.60741675T>G | CA371296721 | CHD7 | n.756T>G c.243T>G (p.His81Gln) | gnomAD v4 |