Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60741596A= | CA1788094563 | CHD7 | n.677A= c.164A= (p.His55=) | |
8 | g.60741596A>C | CA371296113 | CHD7 | n.677A>C c.164A>C (p.His55Pro) | |
8 | g.60741596A>G | CA252065 | CHD7 | n.677A>G c.164A>G (p.His55Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741596A>T | CA371296121 | CHD7 | n.677A>T c.164A>T (p.His55Leu) | |
8 | g.60741597T>A | CA371296128 | CHD7 | n.678T>A c.165T>A (p.His55Gln) | |
8 | g.60741597T>C | CA461102992 | CHD7 | n.678T>C c.165T>C (p.His55=) | ClinVar |
8 | g.60741597T>G | CA371296124 | CHD7 | n.678T>G c.165T>G (p.His55Gln) | |
8 | g.60741598C>A | CA371296130 | CHD7 | n.679C>A c.166C>A (p.His56Asn) | |
8 | g.60741598C= | CA1788094565 | CHD7 | n.679C= c.166C= (p.His56=) | |
8 | g.60741598C>G | CA371296132 | CHD7 | n.679C>G c.166C>G (p.His56Asp) | |
8 | g.60741598C>T | CA371296135 | CHD7 | n.679C>T c.166C>T (p.His56Tyr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60741599A>C | CA371296137 | CHD7 | n.680A>C c.167A>C (p.His56Pro) | |
8 | g.60741599A>G | CA371296139 | CHD7 | n.680A>G c.167A>G (p.His56Arg) | gnomAD v4 |
8 | g.60741599A>T | CA371296140 | CHD7 | n.680A>T c.167A>T (p.His56Leu) | |
8 | g.60741600T>A | CA371296141 | CHD7 | n.681T>A c.168T>A (p.His56Gln) | |
8 | g.60741600T>C | CA177312439 | CHD7 | n.681T>C c.168T>C (p.His56=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741600T>G | CA371296143 | CHD7 | n.681T>G c.168T>G (p.His56Gln) | |
8 | g.60741600T= | CA1788094569 | CHD7 | n.681T= c.168T= (p.His56=) | |
8 | g.60741600_60741609del | CA2695209542 | CHD7 | n.681_690del c.168_177del (p.His56GlnfsTer8) | |
8 | g.60741601C>A | CA371296149 | CHD7 | n.682C>A c.169C>A (p.Pro57Thr) | |
8 | g.60741601C>G | CA371296151 | CHD7 | n.682C>G c.169C>G (p.Pro57Ala) | |
8 | g.60741601C>T | CA371296153 | CHD7 | n.682C>T c.169C>T (p.Pro57Ser) | |
8 | g.60741602_60741603insCCC | CA2568224014 | CHD7 | n.683_684insCCC c.170_171insCCC (p.Pro57_Ser58insPro) | |
8 | g.60741602C>A | CA371296167 | CHD7 | n.683C>A c.170C>A (p.Pro57His) | |
8 | g.60741602C>G | CA371296163 | CHD7 | n.683C>G c.170C>G (p.Pro57Arg) | |
8 | g.60741602C>T | CA371296161 | CHD7 | n.683C>T c.170C>T (p.Pro57Leu) | |
8 | g.60741603T>A | CA461103003 | CHD7 | n.684T>A c.171T>A (p.Pro57=) | |
8 | g.60741603T>C | CA461103004 | CHD7 | n.684T>C c.171T>C (p.Pro57=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60741603T>G | CA461103005 | CHD7 | n.684T>G c.171T>G (p.Pro57=) | |
8 | g.60741603T= | CA1788094572 | CHD7 | n.684T= c.171T= (p.Pro57=) | |
8 | g.60741604T>A | CA371296168 | CHD7 | n.685T>A c.172T>A (p.Ser58Thr) | |
8 | g.60741604T>C | CA371296169 | CHD7 | n.685T>C c.172T>C (p.Ser58Pro) | |
8 | g.60741604T>G | CA371296172 | CHD7 | n.685T>G c.172T>G (p.Ser58Ala) | |
8 | g.60741605C>A | CA371296174 | CHD7 | n.686C>A c.173C>A (p.Ser58Ter) | |
8 | g.60741605C>G | CA371296178 | CHD7 | n.686C>G c.173C>G (p.Ser58Ter) | |
8 | g.60741605C>T | CA371296180 | CHD7 | n.686C>T c.173C>T (p.Ser58Leu) | |
8 | g.60741606A= | CA1788094575 | CHD7 | n.687A= c.174A= (p.Ser58=) | |
8 | g.60741606A>C | CA461103010 | CHD7 | n.687A>C c.174A>C (p.Ser58=) | |
8 | g.60741606A>G | CA461103011 | CHD7 | n.687A>G c.174A>G (p.Ser58=) | dbSNP |
8 | g.60741606A>T | CA461103012 | CHD7 | n.687A>T c.174A>T (p.Ser58=) | |
8 | g.60741607A>C | CA371296183 | CHD7 | n.688A>C c.175A>C (p.Thr59Pro) | |
8 | g.60741607A>G | CA371296188 | CHD7 | n.688A>G c.175A>G (p.Thr59Ala) | gnomAD v4 |
8 | g.60741607A>T | CA371296191 | CHD7 | n.688A>T c.175A>T (p.Thr59Ser) | |
8 | g.60741608C>A | CA371296195 | CHD7 | n.689C>A c.176C>A (p.Thr59Asn) | |
8 | g.60741608C= | CA1788094583 | CHD7 | n.689C= c.176C= (p.Thr59=) | |
8 | g.60741608C>G | CA4759270 | CHD7 | n.689C>G c.176C>G (p.Thr59Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60741608C>T | CA371296204 | CHD7 | n.689C>T c.176C>T (p.Thr59Ile) | |
8 | g.60741609T>A | CA461103013 | CHD7 | n.690T>A c.177T>A (p.Thr59=) | |
8 | g.60741609T>C | CA461103014 | CHD7 | n.690T>C c.177T>C (p.Thr59=) | |
8 | g.60741609T>G | CA461103015 | CHD7 | n.690T>G c.177T>G (p.Thr59=) |