Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.21393481T>A | CA388879715 | CHD8 | c.5477A>T (p.Lys1826Met) c.4014A>T c.6314A>T (p.Lys2105Met) n.5470A>T | |
14 | g.21393481T>C | CA388879717 | CHD8 | c.5477A>G (p.Lys1826Arg) c.4014A>G c.6314A>G (p.Lys2105Arg) n.5470A>G | |
14 | g.21393481T>G | CA388879719 | CHD8 | c.5477A>C (p.Lys1826Thr) c.4014A>C c.6314A>C (p.Lys2105Thr) n.5470A>C | |
14 | g.21393482T>A | CA388879721 | CHD8 | c.5476A>T (p.Lys1826Ter) c.4013A>T c.6313A>T (p.Lys2105Ter) n.5469A>T | dbSNP |
14 | g.21393482T>C | CA388879722 | CHD8 | c.5476A>G (p.Lys1826Glu) c.4013A>G c.6313A>G (p.Lys2105Glu) n.5469A>G | |
14 | g.21393482T>G | CA388879724 | CHD8 | c.5476A>C (p.Lys1826Gln) c.4013A>C c.6313A>C (p.Lys2105Gln) n.5469A>C | |
14 | g.21393482T= | CA2122505910 | CHD8 | c.5476A= (p.Lys1826=) c.4013A= c.6313A= (p.Lys2105=) n.5469A= | |
14 | g.21393483C>A | CA388879726 | CHD8 | c.5475G>T (p.Glu1825Asp) c.4012G>T c.6312G>T (p.Glu2104Asp) n.5468G>T | |
14 | g.21393483C= | CA2122505914 | CHD8 | c.5475G= (p.Glu1825=) c.4012G= c.6312G= (p.Glu2104=) n.5468G= | |
14 | g.21393483C>G | CA388879728 | CHD8 | c.5475G>C (p.Glu1825Asp) c.4012G>C c.6312G>C (p.Glu2104Asp) n.5468G>C | |
14 | g.21393483C>T | CA7090807 | CHD8 | c.5475G>A (p.Glu1825=) c.4012G>A c.6312G>A (p.Glu2104=) n.5468G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393484T>A | CA388879733 | CHD8 | c.5474A>T (p.Glu1825Val) c.4011A>T c.6311A>T (p.Glu2104Val) n.5467A>T | |
14 | g.21393484T>C | CA388879734 | CHD8 | c.5474A>G (p.Glu1825Gly) c.4011A>G c.6311A>G (p.Glu2104Gly) n.5467A>G | |
14 | g.21393484T>G | CA388879732 | CHD8 | c.5474A>C (p.Glu1825Ala) c.4011A>C c.6311A>C (p.Glu2104Ala) n.5467A>C | ClinVar dbSNP |
14 | g.21393484_21393488delinsTCTTC | CA2122505920 | CHD8 | c.5470_5474delinsGAAGA (p.Glu1824=) c.4007_4011delinsGAAGA c.6307_6311delinsGAAGA (p.Glu2103=) n.5463_5467delinsGAAGA | |
14 | g.21393485C>A | CA388879739 | CHD8 | c.5473G>T (p.Glu1825Ter) c.4010G>T c.6310G>T (p.Glu2104Ter) n.5466G>T | dbSNP COSMIC COSMIC |
14 | g.21393485C= | CA2122505925 | CHD8 | c.5473G= (p.Glu1825=) c.4010G= c.6310G= (p.Glu2104=) n.5466G= | |
14 | g.21393485C>G | CA388879736 | CHD8 | c.5473G>C (p.Glu1825Gln) c.4010G>C c.6310G>C (p.Glu2104Gln) n.5466G>C | gnomAD v4 |
14 | g.21393485C>T | CA388879737 | CHD8 | c.5473G>A (p.Glu1825Lys) c.4010G>A c.6310G>A (p.Glu2104Lys) n.5466G>A | gnomAD v4 |
14 | g.21393489_21393492del | CA658770505 | CHD8 | c.5470_5473del (p.Glu1824ArgfsTer3) c.4007_4010del c.6307_6310del (p.Glu2103ArgfsTer3) n.5463_5466del | ClinVar dbSNP |
14 | g.21393486T>A | CA388879740 | CHD8 | c.5472A>T (p.Glu1824Asp) c.4009A>T c.6309A>T (p.Glu2103Asp) n.5465A>T | |
14 | g.21393486T>C | CA484994696 | CHD8 | c.5472A>G (p.Glu1824=) c.4009A>G c.6309A>G (p.Glu2103=) n.5465A>G | |
14 | g.21393486T>G | CA388879741 | CHD8 | c.5472A>C (p.Glu1824Asp) c.4009A>C c.6309A>C (p.Glu2103Asp) n.5465A>C | |
14 | g.21393487T>A | CA388879744 | CHD8 | c.5471A>T (p.Glu1824Val) c.4008A>T c.6308A>T (p.Glu2103Val) n.5464A>T | |
14 | g.21393487T>C | CA388879745 | CHD8 | c.5471A>G (p.Glu1824Gly) c.4008A>G c.6308A>G (p.Glu2103Gly) n.5464A>G | dbSNP |
14 | g.21393487T>G | CA388879747 | CHD8 | c.5471A>C (p.Glu1824Ala) c.4008A>C c.6308A>C (p.Glu2103Ala) n.5464A>C | |
14 | g.21393487T= | CA2122505930 | CHD8 | c.5471A= (p.Glu1824=) c.4008A= c.6308A= (p.Glu2103=) n.5464A= | |
14 | g.21393487_21393488del | CA2695219070 | CHD8 | c.5470_5471del (p.Glu1824ArgfsTer5) c.4007_4008del c.6307_6308del (p.Glu2103ArgfsTer5) n.5463_5464del | |
14 | g.21393488C>A | CA388879750 | CHD8 | c.5470G>T (p.Glu1824Ter) c.4007G>T c.6307G>T (p.Glu2103Ter) n.5463G>T | |
14 | g.21393488C>G | CA388879752 | CHD8 | c.5470G>C (p.Glu1824Gln) c.4007G>C c.6307G>C (p.Glu2103Gln) n.5463G>C | |
14 | g.21393488C>T | CA388879753 | CHD8 | c.5470G>A (p.Glu1824Lys) c.4007G>A c.6307G>A (p.Glu2103Lys) n.5463G>A | |
14 | g.21393489C>A | CA388879754 | CHD8 | c.5469G>T (p.Lys1823Asn) c.4006G>T c.6306G>T (p.Lys2102Asn) n.5462G>T | |
14 | g.21393489C>G | CA388879755 | CHD8 | c.5469G>C (p.Lys1823Asn) c.4006G>C c.6306G>C (p.Lys2102Asn) n.5462G>C | |
14 | g.21393489C>T | CA484994700 | CHD8 | c.5469G>A (p.Lys1823=) c.4006G>A c.6306G>A (p.Lys2102=) n.5462G>A | |
14 | g.21393491_21393493del | CA2575477086 | CHD8 | c.5467_5469del (p.Lys1823del) c.4004_4006del c.6304_6306del (p.Lys2102del) n.5460_5462del | |
14 | g.21393490T>A | CA388879757 | CHD8 | c.5468A>T (p.Lys1823Met) c.4005A>T c.6305A>T (p.Lys2102Met) n.5461A>T | |
14 | g.21393490T>C | CA388879758 | CHD8 | c.5468A>G (p.Lys1823Arg) c.4005A>G c.6305A>G (p.Lys2102Arg) n.5461A>G | |
14 | g.21393490T>G | CA388879756 | CHD8 | c.5468A>C (p.Lys1823Thr) c.4005A>C c.6305A>C (p.Lys2102Thr) n.5461A>C | |
14 | g.21393491T>A | CA388879760 | CHD8 | c.5467A>T (p.Lys1823Ter) c.4004A>T c.6304A>T (p.Lys2102Ter) n.5460A>T | |
14 | g.21393491T>C | CA388879762 | CHD8 | c.5467A>G (p.Lys1823Glu) c.4004A>G c.6304A>G (p.Lys2102Glu) n.5460A>G | |
14 | g.21393491T>G | CA388879765 | CHD8 | c.5467A>C (p.Lys1823Gln) c.4004A>C c.6304A>C (p.Lys2102Gln) n.5460A>C | |
14 | g.21393492C>A | CA388879767 | CHD8 | c.5466G>T (p.Glu1822Asp) c.4003G>T c.6303G>T (p.Glu2101Asp) n.5459G>T | gnomAD v4 |
14 | g.21393492C>G | CA388879769 | CHD8 | c.5466G>C (p.Glu1822Asp) c.4003G>C c.6303G>C (p.Glu2101Asp) n.5459G>C | |
14 | g.21393492C>T | CA484994703 | CHD8 | c.5466G>A (p.Glu1822=) c.4003G>A c.6303G>A (p.Glu2101=) n.5459G>A | |
14 | g.21393493T>A | CA388879773 | CHD8 | c.5465A>T (p.Glu1822Val) c.4002A>T c.6302A>T (p.Glu2101Val) n.5458A>T | |
14 | g.21393493T>C | CA388879770 | CHD8 | c.5465A>G (p.Glu1822Gly) c.4002A>G c.6302A>G (p.Glu2101Gly) n.5458A>G | |
14 | g.21393493T>G | CA388879772 | CHD8 | c.5465A>C (p.Glu1822Ala) c.4002A>C c.6302A>C (p.Glu2101Ala) n.5458A>C | |
14 | g.21393494C>A | CA388879774 | CHD8 | c.5464G>T (p.Glu1822Ter) c.4001G>T c.6301G>T (p.Glu2101Ter) n.5457G>T | dbSNP gnomAD v4 |
14 | g.21393494C= | CA2122505934 | CHD8 | c.5464G= (p.Glu1822=) c.4001G= c.6301G= (p.Glu2101=) n.5457G= | |
14 | g.21393494C>G | CA388879775 | CHD8 | c.5464G>C (p.Glu1822Gln) c.4001G>C c.6301G>C (p.Glu2101Gln) n.5457G>C | |
14 | g.21393494C>T | CA388879776 | CHD8 | c.5464G>A (p.Glu1822Lys) c.4001G>A c.6301G>A (p.Glu2101Lys) n.5457G>A | gnomAD v4 |
14 | g.21393495A>C | CA388879777 | CHD8 | c.5463T>G (p.Asp1821Glu) c.4000T>G c.6300T>G (p.Asp2100Glu) n.5456T>G | |
14 | g.21393495A>G | CA484994706 | CHD8 | c.5463T>C (p.Asp1821=) c.4000T>C c.6300T>C (p.Asp2100=) n.5456T>C | |
14 | g.21393495A>T | CA388879778 | CHD8 | c.5463T>A (p.Asp1821Glu) c.4000T>A c.6300T>A (p.Asp2100Glu) n.5456T>A | |
14 | g.21393496T>A | CA388879781 | CHD8 | c.5462A>T (p.Asp1821Val) c.3999A>T c.6299A>T (p.Asp2100Val) n.5455A>T | |
14 | g.21393496T>C | CA388879780 | CHD8 | c.5462A>G (p.Asp1821Gly) c.3999A>G c.6299A>G (p.Asp2100Gly) n.5455A>G | |
14 | g.21393496T>G | CA388879779 | CHD8 | c.5462A>C (p.Asp1821Ala) c.3999A>C c.6299A>C (p.Asp2100Ala) n.5455A>C | |
14 | g.21393497C>A | CA388879782 | CHD8 | c.5461G>T (p.Asp1821Tyr) c.3998G>T c.6298G>T (p.Asp2100Tyr) n.5454G>T | gnomAD v4 |
14 | g.21393497C>G | CA388879783 | CHD8 | c.5461G>C (p.Asp1821His) c.3998G>C c.6298G>C (p.Asp2100His) n.5454G>C | |
14 | g.21393497C>T | CA388879784 | CHD8 | c.5461G>A (p.Asp1821Asn) c.3998G>A c.6298G>A (p.Asp2100Asn) n.5454G>A | |
14 | g.21393498C>A | CA388879785 | CHD8 | c.5460G>T (p.Glu1820Asp) c.3997G>T c.6297G>T (p.Glu2099Asp) n.5453G>T | gnomAD v4 |
14 | g.21393498C= | CA2122505939 | CHD8 | c.5460G= (p.Glu1820=) c.3997G= c.6297G= (p.Glu2099=) n.5453G= | |
14 | g.21393498C>G | CA388879787 | CHD8 | c.5460G>C (p.Glu1820Asp) c.3997G>C c.6297G>C (p.Glu2099Asp) n.5453G>C | |
14 | g.21393498C>T | CA484994709 | CHD8 | c.5460G>A (p.Glu1820=) c.3997G>A c.6297G>A (p.Glu2099=) n.5453G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393499T>A | CA388879789 | CHD8 | c.5459A>T (p.Glu1820Val) c.3996A>T c.6296A>T (p.Glu2099Val) n.5452A>T | |
14 | g.21393499T>C | CA388879793 | CHD8 | c.5459A>G (p.Glu1820Gly) c.3996A>G c.6296A>G (p.Glu2099Gly) n.5452A>G | gnomAD v4 |
14 | g.21393499T>G | CA388879795 | CHD8 | c.5459A>C (p.Glu1820Ala) c.3996A>C c.6296A>C (p.Glu2099Ala) n.5452A>C | |
14 | g.21393500C>A | CA388879797 | CHD8 | c.5458G>T (p.Glu1820Ter) c.3995G>T c.6295G>T (p.Glu2099Ter) n.5451G>T | dbSNP gnomAD v4 |
14 | g.21393500C= | CA2122505947 | CHD8 | c.5458G= (p.Glu1820=) c.3995G= c.6295G= (p.Glu2099=) n.5451G= | |
14 | g.21393500C>G | CA388879799 | CHD8 | c.5458G>C (p.Glu1820Gln) c.3995G>C c.6295G>C (p.Glu2099Gln) n.5451G>C | |
14 | g.21393500C>T | CA388879801 | CHD8 | c.5458G>A (p.Glu1820Lys) c.3995G>A c.6295G>A (p.Glu2099Lys) n.5451G>A | ClinVar dbSNP |
14 | g.21393501A>C | CA388879803 | CHD8 | c.5457T>G (p.Ser1819Arg) c.3994T>G c.6294T>G (p.Ser2098Arg) n.5450T>G | |
14 | g.21393501A>G | CA484994712 | CHD8 | c.5457T>C (p.Ser1819=) c.3994T>C c.6294T>C (p.Ser2098=) n.5450T>C | |
14 | g.21393501A>T | CA388879806 | CHD8 | c.5457T>A (p.Ser1819Arg) c.3994T>A c.6294T>A (p.Ser2098Arg) n.5450T>A | |
14 | g.21393502C>A | CA388879812 | CHD8 | c.5456G>T (p.Ser1819Ile) c.3993G>T c.6293G>T (p.Ser2098Ile) n.5449G>T | |
14 | g.21393502C= | CA2122505964 | CHD8 | c.5456G= (p.Ser1819=) c.3993G= c.6293G= (p.Ser2098=) n.5449G= | |
14 | g.21393502C>G | CA388879808 | CHD8 | c.5456G>C (p.Ser1819Thr) c.3993G>C c.6293G>C (p.Ser2098Thr) n.5449G>C | |
14 | g.21393502C>T | CA388879810 | CHD8 | c.5456G>A (p.Ser1819Asn) c.3993G>A c.6293G>A (p.Ser2098Asn) n.5449G>A | dbSNP gnomAD v4 |
14 | g.21393503T>A | CA388879814 | CHD8 | c.5455A>T (p.Ser1819Cys) c.3992A>T c.6292A>T (p.Ser2098Cys) n.5448A>T | |
14 | g.21393503T>C | CA388879822 | CHD8 | c.5455A>G (p.Ser1819Gly) c.3992A>G c.6292A>G (p.Ser2098Gly) n.5448A>G | |
14 | g.21393503T>G | CA388879824 | CHD8 | c.5455A>C (p.Ser1819Arg) c.3992A>C c.6292A>C (p.Ser2098Arg) n.5448A>C | |
14 | g.21393504C>A | CA388879828 | CHD8 | c.5454G>T (p.Glu1818Asp) c.3991G>T c.6291G>T (p.Glu2097Asp) n.5447G>T | |
14 | g.21393504C>G | CA388879830 | CHD8 | c.5454G>C (p.Glu1818Asp) c.3991G>C c.6291G>C (p.Glu2097Asp) n.5447G>C | |
14 | g.21393504C>T | CA484994717 | CHD8 | c.5454G>A (p.Glu1818=) c.3991G>A c.6291G>A (p.Glu2097=) n.5447G>A | |
14 | g.21393505T>A | CA388879832 | CHD8 | c.5453A>T (p.Glu1818Val) c.3990A>T c.6290A>T (p.Glu2097Val) n.5446A>T | |
14 | g.21393505T>C | CA388879834 | CHD8 | c.5453A>G (p.Glu1818Gly) c.3990A>G c.6290A>G (p.Glu2097Gly) n.5446A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393505T>G | CA388879836 | CHD8 | c.5453A>C (p.Glu1818Ala) c.3990A>C c.6290A>C (p.Glu2097Ala) n.5446A>C | |
14 | g.21393505T= | CA2122505968 | CHD8 | c.5453A= (p.Glu1818=) c.3990A= c.6290A= (p.Glu2097=) n.5446A= | |
14 | g.21393506C>A | CA388879839 | CHD8 | c.5452G>T (p.Glu1818Ter) c.3989G>T c.6289G>T (p.Glu2097Ter) n.5445G>T | gnomAD v4 |
14 | g.21393506C= | CA2122505971 | CHD8 | c.5452G= (p.Glu1818=) c.3989G= c.6289G= (p.Glu2097=) n.5445G= | |
14 | g.21393506C>G | CA7090808 | CHD8 | c.5452G>C (p.Glu1818Gln) c.3989G>C c.6289G>C (p.Glu2097Gln) n.5445G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393506C>T | CA388879842 | CHD8 | c.5452G>A (p.Glu1818Lys) c.3989G>A c.6289G>A (p.Glu2097Lys) n.5445G>A | gnomAD v4 COSMIC |
14 | g.21393507A= | CA2122505974 | CHD8 | c.5451T= (p.Asp1817=) c.3988T= c.6288T= (p.Asp2096=) n.5444T= | |
14 | g.21393507A>C | CA388879845 | CHD8 | c.5451T>G (p.Asp1817Glu) c.3988T>G c.6288T>G (p.Asp2096Glu) n.5444T>G | gnomAD v4 |
14 | g.21393507A>G | CA484994729 | CHD8 | c.5451T>C (p.Asp1817=) c.3988T>C c.6288T>C (p.Asp2096=) n.5444T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393507A>T | CA388879847 | CHD8 | c.5451T>A (p.Asp1817Glu) c.3988T>A c.6288T>A (p.Asp2096Glu) n.5444T>A | gnomAD v4 |
14 | g.21393508T>A | CA388879854 | CHD8 | c.5450A>T (p.Asp1817Val) c.3987A>T c.6287A>T (p.Asp2096Val) n.5443A>T | |
14 | g.21393508T>C | CA388879852 | CHD8 | c.5450A>G (p.Asp1817Gly) c.3987A>G c.6287A>G (p.Asp2096Gly) n.5443A>G | gnomAD v4 |
14 | g.21393508T>G | CA388879849 | CHD8 | c.5450A>C (p.Asp1817Ala) c.3987A>C c.6287A>C (p.Asp2096Ala) n.5443A>C | |
14 | g.21393509C>A | CA388879859 | CHD8 | c.5449G>T (p.Asp1817Tyr) c.3986G>T c.6286G>T (p.Asp2096Tyr) n.5442G>T | |
14 | g.21393509C= | CA2122505975 | CHD8 | c.5449G= (p.Asp1817=) c.3986G= c.6286G= (p.Asp2096=) n.5442G= | |
14 | g.21393509C>G | CA388879857 | CHD8 | c.5449G>C (p.Asp1817His) c.3986G>C c.6286G>C (p.Asp2096His) n.5442G>C | |
14 | g.21393509C>T | CA7090809 | CHD8 | c.5449G>A (p.Asp1817Asn) c.3986G>A c.6286G>A (p.Asp2096Asn) n.5442G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393510A>C | CA484994732 | CHD8 | c.5448T>G (p.Thr1816=) c.3985T>G c.6285T>G (p.Thr2095=) n.5441T>G | gnomAD v4 |
14 | g.21393510A>G | CA484994733 | CHD8 | c.5448T>C (p.Thr1816=) c.3985T>C c.6285T>C (p.Thr2095=) n.5441T>C | gnomAD v4 |
14 | g.21393510A>T | CA484994735 | CHD8 | c.5448T>A (p.Thr1816=) c.3985T>A c.6285T>A (p.Thr2095=) n.5441T>A | |
14 | g.21393511G>A | CA7090810 | CHD8 | c.5447C>T (p.Thr1816Ile) c.3984C>T c.6284C>T (p.Thr2095Ile) n.5440C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393511G>C | CA388879865 | CHD8 | c.5447C>G (p.Thr1816Ser) c.3984C>G c.6284C>G (p.Thr2095Ser) n.5440C>G | |
14 | g.21393511G= | CA2122505978 | CHD8 | c.5447C= (p.Thr1816=) c.3984C= c.6284C= (p.Thr2095=) n.5440C= | |
14 | g.21393511G>T | CA388879863 | CHD8 | c.5447C>A (p.Thr1816Asn) c.3984C>A c.6284C>A (p.Thr2095Asn) n.5440C>A | gnomAD v4 |
14 | g.21393512T>A | CA388879868 | CHD8 | c.5446A>T (p.Thr1816Ser) c.3983A>T c.6283A>T (p.Thr2095Ser) n.5439A>T | |
14 | g.21393512T>C | CA388879870 | CHD8 | c.5446A>G (p.Thr1816Ala) c.3983A>G c.6283A>G (p.Thr2095Ala) n.5439A>G | |
14 | g.21393512T>G | CA388879871 | CHD8 | c.5446A>C (p.Thr1816Pro) c.3983A>C c.6283A>C (p.Thr2095Pro) n.5439A>C | |
14 | g.21393512_21393518delinsTGCTGGA | CA2122505982 | CHD8 | c.5440_5446delinsTCCAGCA (p.Ser1814=) c.3977_3983delinsTCCAGCA c.6277_6283delinsTCCAGCA (p.Ser2093=) n.5433_5439delinsTCCAGCA | |
14 | g.21393513G>A | CA484994744 | CHD8 | c.5445C>T (p.Ser1815=) c.3982C>T c.6282C>T (p.Ser2094=) n.5438C>T | |
14 | g.21393513G>C | CA388879876 | CHD8 | c.5445C>G (p.Ser1815Arg) c.3982C>G c.6282C>G (p.Ser2094Arg) n.5438C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393513G= | CA2122505987 | CHD8 | c.5445C= (p.Ser1815=) c.3982C= c.6282C= (p.Ser2094=) n.5438C= | |
14 | g.21393513G>T | CA388879878 | CHD8 | c.5445C>A (p.Ser1815Arg) c.3982C>A c.6282C>A (p.Ser2094Arg) n.5438C>A | |
14 | g.21393525_21393530dup | CA7090811 | CHD8 | c.5440_5445dup (p.Ser1815_Thr1816insSerSer) c.3977_3982dup c.6277_6282dup (p.Ser2094_Thr2095insSerSer) n.5433_5438dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393525_21393530del | CA704113388 | CHD8 | c.5440_5445del (p.Ser1814_Ser1815del) c.3977_3982del c.6277_6282del (p.Ser2093_Ser2094del) n.5433_5438del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393514C>A | CA388879880 | CHD8 | c.5444G>T (p.Ser1815Ile) c.3981G>T c.6281G>T (p.Ser2094Ile) n.5437G>T | |
14 | g.21393514C= | CA2122505991 | CHD8 | c.5444G= (p.Ser1815=) c.3981G= c.6281G= (p.Ser2094=) n.5437G= | |
14 | g.21393514C>G | CA388879882 | CHD8 | c.5444G>C (p.Ser1815Thr) c.3981G>C c.6281G>C (p.Ser2094Thr) n.5437G>C | |
14 | g.21393514C>T | CA388879884 | CHD8 | c.5444G>A (p.Ser1815Asn) c.3981G>A c.6281G>A (p.Ser2094Asn) n.5437G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393515T>A | CA388879887 | CHD8 | c.5443A>T (p.Ser1815Cys) c.3980A>T c.6280A>T (p.Ser2094Cys) n.5436A>T | |
14 | g.21393515T>C | CA388879888 | CHD8 | c.5443A>G (p.Ser1815Gly) c.3980A>G c.6280A>G (p.Ser2094Gly) n.5436A>G | gnomAD v4 |
14 | g.21393515T>G | CA388879889 | CHD8 | c.5443A>C (p.Ser1815Arg) c.3980A>C c.6280A>C (p.Ser2094Arg) n.5436A>C | |
14 | g.21393516G>A | CA484994752 | CHD8 | c.5442C>T (p.Ser1814=) c.3979C>T c.6279C>T (p.Ser2093=) n.5435C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393516G>C | CA484994754 | CHD8 | c.5442C>G (p.Ser1814=) c.3979C>G c.6279C>G (p.Ser2093=) n.5435C>G | |
14 | g.21393516G= | CA2122505993 | CHD8 | c.5442C= (p.Ser1814=) c.3979C= c.6279C= (p.Ser2093=) n.5435C= | |
14 | g.21393516G>T | CA484994753 | CHD8 | c.5442C>A (p.Ser1814=) c.3979C>A c.6279C>A (p.Ser2093=) n.5435C>A | |
14 | g.21393517G>A | CA388879895 | CHD8 | c.5441C>T (p.Ser1814Phe) c.3978C>T c.6278C>T (p.Ser2093Phe) n.5434C>T | gnomAD v4 |
14 | g.21393517G>C | CA388879891 | CHD8 | c.5441C>G (p.Ser1814Cys) c.3978C>G c.6278C>G (p.Ser2093Cys) n.5434C>G | dbSNP gnomAD v4 |
14 | g.21393517G= | CA2122505996 | CHD8 | c.5441C= (p.Ser1814=) c.3978C= c.6278C= (p.Ser2093=) n.5434C= | |
14 | g.21393517G>T | CA388879893 | CHD8 | c.5441C>A (p.Ser1814Tyr) c.3978C>A c.6278C>A (p.Ser2093Tyr) n.5434C>A | |
14 | g.21393518A= | CA2122505999 | CHD8 | c.5440T= (p.Ser1814=) c.3977T= c.6277T= (p.Ser2093=) n.5433T= | |
14 | g.21393518A>C | CA388879897 | CHD8 | c.5440T>G (p.Ser1814Ala) c.3977T>G c.6277T>G (p.Ser2093Ala) n.5433T>G | |
14 | g.21393518A>G | CA388879899 | CHD8 | c.5440T>C (p.Ser1814Pro) c.3977T>C c.6277T>C (p.Ser2093Pro) n.5433T>C | dbSNP gnomAD v2 |
14 | g.21393518A>T | CA388879901 | CHD8 | c.5440T>A (p.Ser1814Thr) c.3977T>A c.6277T>A (p.Ser2093Thr) n.5433T>A | |
14 | g.21393519G>A | CA484994759 | CHD8 | c.5439C>T (p.Ser1813=) c.3976C>T c.6276C>T (p.Ser2092=) n.5432C>T | |
14 | g.21393519G>C | CA388879903 | CHD8 | c.5439C>G (p.Ser1813Arg) c.3976C>G c.6276C>G (p.Ser2092Arg) n.5432C>G | |
14 | g.21393519G>T | CA388879905 | CHD8 | c.5439C>A (p.Ser1813Arg) c.3976C>A c.6276C>A (p.Ser2092Arg) n.5432C>A | |
14 | g.21393520C>A | CA388879924 | CHD8 | c.5438G>T (p.Ser1813Ile) c.3975G>T c.6275G>T (p.Ser2092Ile) n.5431G>T | |
14 | g.21393520C>G | CA388879925 | CHD8 | c.5438G>C (p.Ser1813Thr) c.3975G>C c.6275G>C (p.Ser2092Thr) n.5431G>C | |
14 | g.21393520C>T | CA388879928 | CHD8 | c.5438G>A (p.Ser1813Asn) c.3975G>A c.6275G>A (p.Ser2092Asn) n.5431G>A | |
14 | g.21393521T>A | CA388879931 | CHD8 | c.5437A>T (p.Ser1813Cys) c.3974A>T c.6274A>T (p.Ser2092Cys) n.5430A>T | |
14 | g.21393521T>C | CA388879933 | CHD8 | c.5437A>G (p.Ser1813Gly) c.3974A>G c.6274A>G (p.Ser2092Gly) n.5430A>G | |
14 | g.21393521T>G | CA388879935 | CHD8 | c.5437A>C (p.Ser1813Arg) c.3974A>C c.6274A>C (p.Ser2092Arg) n.5430A>C | |
14 | g.21393522G>A | CA484994765 | CHD8 | c.5436C>T (p.Ser1812=) c.3973C>T c.6273C>T (p.Ser2091=) n.5429C>T | gnomAD v4 |
14 | g.21393522G>C | CA484994767 | CHD8 | c.5436C>G (p.Ser1812=) c.3973C>G c.6273C>G (p.Ser2091=) n.5429C>G | |
14 | g.21393522G>T | CA484994768 | CHD8 | c.5436C>A (p.Ser1812=) c.3973C>A c.6273C>A (p.Ser2091=) n.5429C>A | gnomAD v4 |
14 | g.21393523G>A | CA388879938 | CHD8 | c.5435C>T (p.Ser1812Phe) c.3972C>T c.6272C>T (p.Ser2091Phe) n.5428C>T | |
14 | g.21393523G>C | CA388879937 | CHD8 | c.5435C>G (p.Ser1812Cys) c.3972C>G c.6272C>G (p.Ser2091Cys) n.5428C>G | |
14 | g.21393523G>T | CA388879936 | CHD8 | c.5435C>A (p.Ser1812Tyr) c.3972C>A c.6272C>A (p.Ser2091Tyr) n.5428C>A | gnomAD v4 |
14 | g.21393524A>C | CA388879940 | CHD8 | c.5434T>G (p.Ser1812Ala) c.3971T>G c.6271T>G (p.Ser2091Ala) n.5427T>G | |
14 | g.21393524A>G | CA388879941 | CHD8 | c.5434T>C (p.Ser1812Pro) c.3971T>C c.6271T>C (p.Ser2091Pro) n.5427T>C | |
14 | g.21393524A>T | CA388879943 | CHD8 | c.5434T>A (p.Ser1812Thr) c.3971T>A c.6271T>A (p.Ser2091Thr) n.5427T>A | |
14 | g.21393525del | CA2695219071 | CHD8 | c.5433del (p.Ser1812ProfsTer16) c.3970del c.6270del (p.Ser2091ProfsTer16) n.5426del | |
14 | g.21393525G>A | CA484994774 | CHD8 | c.5433C>T (p.Ser1811=) c.3970C>T c.6270C>T (p.Ser2090=) n.5426C>T | |
14 | g.21393525G>C | CA388879947 | CHD8 | c.5433C>G (p.Ser1811Arg) c.3970C>G c.6270C>G (p.Ser2090Arg) n.5426C>G | |
14 | g.21393525G>T | CA388879948 | CHD8 | c.5433C>A (p.Ser1811Arg) c.3970C>A c.6270C>A (p.Ser2090Arg) n.5426C>A | gnomAD v4 |
14 | g.21393525_21393526del | CA2624078743 | CHD8 | c.5432_5433del (p.Ser1811IlefsTer6) c.3969_3970del c.6269_6270del (p.Ser2090IlefsTer6) n.5425_5426del | gnomAD v4 |
14 | g.21393526C>A | CA388879949 | CHD8 | c.5432G>T (p.Ser1811Ile) c.3969G>T c.6269G>T (p.Ser2090Ile) n.5425G>T | |
14 | g.21393526C= | CA2122506001 | CHD8 | c.5432G= (p.Ser1811=) c.3969G= c.6269G= (p.Ser2090=) n.5425G= | |
14 | g.21393526C>G | CA257592867 | CHD8 | c.5432G>C (p.Ser1811Thr) c.3969G>C c.6269G>C (p.Ser2090Thr) n.5425G>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393526C>T | CA388879950 | CHD8 | c.5432G>A (p.Ser1811Asn) c.3969G>A c.6269G>A (p.Ser2090Asn) n.5425G>A | ClinVar |
14 | g.21393527T>A | CA388879952 | CHD8 | c.5431A>T (p.Ser1811Cys) c.3968A>T c.6268A>T (p.Ser2090Cys) n.5424A>T | |
14 | g.21393527T>C | CA388879954 | CHD8 | c.5431A>G (p.Ser1811Gly) c.3968A>G c.6268A>G (p.Ser2090Gly) n.5424A>G | gnomAD v4 |
14 | g.21393527T>G | CA388879956 | CHD8 | c.5431A>C (p.Ser1811Arg) c.3968A>C c.6268A>C (p.Ser2090Arg) n.5424A>C | |
14 | g.21393527_21393533delinsTGGATGA | CA2122506004 | CHD8 | c.5425_5431delinsTCATCCA (p.Ser1809=) c.3962_3968delinsTCATCCA c.6262_6268delinsTCATCCA (p.Ser2088=) n.5418_5424delinsTCATCCA | |
14 | g.21393528G>A | CA7090813 | CHD8 | c.5430C>T (p.Ser1810=) c.3967C>T c.6267C>T (p.Ser2089=) n.5423C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393528G>C | CA484994780 | CHD8 | c.5430C>G (p.Ser1810=) c.3967C>G c.6267C>G (p.Ser2089=) n.5423C>G | gnomAD v4 |
14 | g.21393528G= | CA2122506006 | CHD8 | c.5430C= (p.Ser1810=) c.3967C= c.6267C= (p.Ser2089=) n.5423C= | |
14 | g.21393528G>T | CA484994779 | CHD8 | c.5430C>A (p.Ser1810=) c.3967C>A c.6267C>A (p.Ser2089=) n.5423C>A | gnomAD v4 |
14 | g.21393528_21393529insAG | CA2624078744 | CHD8 | c.5430_5431insTC (p.Ser1812AlafsTer17) c.3967_3968insTC c.6267_6268insTC (p.Ser2091AlafsTer17) n.5423_5424insTC | gnomAD v4 |
14 | g.21393537_21393542del | CA7090812 | CHD8 | c.5425_5430del (p.Ser1809_Ser1810del) c.3962_3967del c.6262_6267del (p.Ser2088_Ser2089del) n.5418_5423del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393529G>A | CA388879959 | CHD8 | c.5429C>T (p.Ser1810Phe) c.3966C>T c.6266C>T (p.Ser2089Phe) n.5422C>T | |
14 | g.21393529G>C | CA388879957 | CHD8 | c.5429C>G (p.Ser1810Cys) c.3966C>G c.6266C>G (p.Ser2089Cys) n.5422C>G | |
14 | g.21393529G>T | CA388879958 | CHD8 | c.5429C>A (p.Ser1810Tyr) c.3966C>A c.6266C>A (p.Ser2089Tyr) n.5422C>A | |
14 | g.21393530A>C | CA388879960 | CHD8 | c.5428T>G (p.Ser1810Ala) c.3965T>G c.6265T>G (p.Ser2089Ala) n.5421T>G | |
14 | g.21393530A>G | CA388879961 | CHD8 | c.5428T>C (p.Ser1810Pro) c.3965T>C c.6265T>C (p.Ser2089Pro) n.5421T>C | |
14 | g.21393530A>T | CA388879962 | CHD8 | c.5428T>A (p.Ser1810Thr) c.3965T>A c.6265T>A (p.Ser2089Thr) n.5421T>A | |
14 | g.21393531T>A | CA484994782 | CHD8 | c.5427A>T (p.Ser1809=) c.3964A>T c.6264A>T (p.Ser2088=) n.5420A>T | gnomAD v4 |
14 | g.21393531T>C | CA484994783 | CHD8 | c.5427A>G (p.Ser1809=) c.3964A>G c.6264A>G (p.Ser2088=) n.5420A>G | |
14 | g.21393531T>G | CA7090814 | CHD8 | c.5427A>C (p.Ser1809=) c.3964A>C c.6264A>C (p.Ser2088=) n.5420A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393531T= | CA2122506008 | CHD8 | c.5427A= (p.Ser1809=) c.3964A= c.6264A= (p.Ser2088=) n.5420A= | |
14 | g.21393532G>A | CA388879964 | CHD8 | c.5426C>T (p.Ser1809Leu) c.3963C>T c.6263C>T (p.Ser2088Leu) n.5419C>T | |
14 | g.21393532G>C | CA388879966 | CHD8 | c.5426C>G (p.Ser1809Ter) c.3963C>G c.6263C>G (p.Ser2088Ter) n.5419C>G | |
14 | g.21393532G>T | CA388879968 | CHD8 | c.5426C>A (p.Ser1809Ter) c.3963C>A c.6263C>A (p.Ser2088Ter) n.5419C>A | gnomAD v4 |
14 | g.21393533A>C | CA388879971 | CHD8 | c.5425T>G (p.Ser1809Ala) c.3962T>G c.6262T>G (p.Ser2088Ala) n.5418T>G | COSMIC COSMIC |
14 | g.21393533A>G | CA388879973 | CHD8 | c.5425T>C (p.Ser1809Pro) c.3962T>C c.6262T>C (p.Ser2088Pro) n.5418T>C | |
14 | g.21393533A>T | CA388879974 | CHD8 | c.5425T>A (p.Ser1809Thr) c.3962T>A c.6262T>A (p.Ser2088Thr) n.5418T>A | |
14 | g.21393534G>A | CA7090815 | CHD8 | c.5424C>T (p.Ser1808=) c.3961C>T c.6261C>T (p.Ser2087=) n.5417C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393534G>C | CA484994789 | CHD8 | c.5424C>G (p.Ser1808=) c.3961C>G c.6261C>G (p.Ser2087=) n.5417C>G | gnomAD v4 |
14 | g.21393534G= | CA2122506011 | CHD8 | c.5424C= (p.Ser1808=) c.3961C= c.6261C= (p.Ser2087=) n.5417C= | |
14 | g.21393534G>T | CA484994791 | CHD8 | c.5424C>A (p.Ser1808=) c.3961C>A c.6261C>A (p.Ser2087=) n.5417C>A | dbSNP gnomAD v4 |
14 | g.21393535G>A | CA388879983 | CHD8 | c.5423C>T (p.Ser1808Phe) c.3960C>T c.6260C>T (p.Ser2087Phe) n.5416C>T | |
14 | g.21393535G>C | CA388879982 | CHD8 | c.5423C>G (p.Ser1808Cys) c.3960C>G c.6260C>G (p.Ser2087Cys) n.5416C>G | |
14 | g.21393535G>T | CA388879981 | CHD8 | c.5423C>A (p.Ser1808Tyr) c.3960C>A c.6260C>A (p.Ser2087Tyr) n.5416C>A | gnomAD v4 |
14 | g.21393536A>C | CA388879985 | CHD8 | c.5422T>G (p.Ser1808Ala) c.3959T>G c.6259T>G (p.Ser2087Ala) n.5415T>G | |
14 | g.21393536A>G | CA388879987 | CHD8 | c.5422T>C (p.Ser1808Pro) c.3959T>C c.6259T>C (p.Ser2087Pro) n.5415T>C | |
14 | g.21393536A>T | CA388879989 | CHD8 | c.5422T>A (p.Ser1808Thr) c.3959T>A c.6259T>A (p.Ser2087Thr) n.5415T>A | |
14 | g.21393537T>A | CA484994796 | CHD8 | c.5421A>T (p.Ser1807=) c.3958A>T c.6258A>T (p.Ser2086=) n.5414A>T | |
14 | g.21393537T>C | CA7090816 | CHD8 | c.5421A>G (p.Ser1807=) c.3958A>G c.6258A>G (p.Ser2086=) n.5414A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393537T>G | CA484994798 | CHD8 | c.5421A>C (p.Ser1807=) c.3958A>C c.6258A>C (p.Ser2086=) n.5414A>C | |
14 | g.21393537T= | CA2122506013 | CHD8 | c.5421A= (p.Ser1807=) c.3958A= c.6258A= (p.Ser2086=) n.5414A= | |
14 | g.21393538G>A | CA388879992 | CHD8 | c.5420C>T (p.Ser1807Leu) c.3957C>T c.6257C>T (p.Ser2086Leu) n.5413C>T | dbSNP |
14 | g.21393538G>C | CA388879994 | CHD8 | c.5420C>G (p.Ser1807Ter) c.3957C>G c.6257C>G (p.Ser2086Ter) n.5413C>G | |
14 | g.21393538G= | CA2122506015 | CHD8 | c.5420C= (p.Ser1807=) c.3957C= c.6257C= (p.Ser2086=) n.5413C= | |
14 | g.21393538G>T | CA388879995 | CHD8 | c.5420C>A (p.Ser1807Ter) c.3957C>A c.6257C>A (p.Ser2086Ter) n.5413C>A | |
14 | g.21393539A>C | CA388879996 | CHD8 | c.5419T>G (p.Ser1807Ala) c.3956T>G c.6256T>G (p.Ser2086Ala) n.5412T>G | |
14 | g.21393539A>G | CA388880000 | CHD8 | c.5419T>C (p.Ser1807Pro) c.3956T>C c.6256T>C (p.Ser2086Pro) n.5412T>C | |
14 | g.21393539A>T | CA388879998 | CHD8 | c.5419T>A (p.Ser1807Thr) c.3956T>A c.6256T>A (p.Ser2086Thr) n.5412T>A | |
14 | g.21393540G>A | CA484994806 | CHD8 | c.5418C>T (p.Ser1806=) c.3955C>T c.6255C>T (p.Ser2085=) n.5411C>T | gnomAD v4 |
14 | g.21393540G>C | CA484994804 | CHD8 | c.5418C>G (p.Ser1806=) c.3955C>G c.6255C>G (p.Ser2085=) n.5411C>G | gnomAD v4 |
14 | g.21393540G>T | CA484994805 | CHD8 | c.5418C>A (p.Ser1806=) c.3955C>A c.6255C>A (p.Ser2085=) n.5411C>A | |
14 | g.21393540_21393543delinsGGAA | CA2122506018 | CHD8 | c.5415_5418delinsTTCC (p.Ser1805=) c.3952_3955delinsTTCC c.6252_6255delinsTTCC (p.Ser2084=) n.5408_5411delinsTTCC | |
14 | g.21393541G>A | CA388880004 | CHD8 | c.5417C>T (p.Ser1806Phe) c.3954C>T c.6254C>T (p.Ser2085Phe) n.5410C>T | |
14 | g.21393541G>C | CA388880010 | CHD8 | c.5417C>G (p.Ser1806Cys) c.3954C>G c.6254C>G (p.Ser2085Cys) n.5410C>G | |
14 | g.21393541G>T | CA388880011 | CHD8 | c.5417C>A (p.Ser1806Tyr) c.3954C>A c.6254C>A (p.Ser2085Tyr) n.5410C>A | |
14 | g.21393552_21393554dup | CA2122506021 | CHD8 | c.5415_5417dup (p.Ser1806_Ser1807insSer) c.3952_3954dup c.6252_6254dup (p.Ser2085_Ser2086insSer) n.5408_5410dup | dbSNP gnomAD v4 |
14 | g.21393549_21393554dup | CA2575477092 | CHD8 | c.5412_5417dup (p.Ser1806_Ser1807insSerSer) c.3949_3954dup c.6249_6254dup (p.Ser2085_Ser2086insSerSer) n.5405_5410dup | gnomAD v4 |
14 | g.21393552_21393554del | CA7090817 | CHD8 | c.5415_5417del (p.Ser1806del) c.3952_3954del c.6252_6254del (p.Ser2085del) n.5408_5410del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393542A>C | CA388880020 | CHD8 | c.5416T>G (p.Ser1806Ala) c.3953T>G c.6253T>G (p.Ser2085Ala) n.5409T>G | |
14 | g.21393542A>G | CA388880016 | CHD8 | c.5416T>C (p.Ser1806Pro) c.3953T>C c.6253T>C (p.Ser2085Pro) n.5409T>C | |
14 | g.21393542A>T | CA388880018 | CHD8 | c.5416T>A (p.Ser1806Thr) c.3953T>A c.6253T>A (p.Ser2085Thr) n.5409T>A | |
14 | g.21393543A>C | CA484994808 | CHD8 | c.5415T>G (p.Ser1805=) c.3952T>G c.6252T>G (p.Ser2084=) n.5408T>G | |
14 | g.21393543A>G | CA484994810 | CHD8 | c.5415T>C (p.Ser1805=) c.3952T>C c.6252T>C (p.Ser2084=) n.5408T>C | |
14 | g.21393543A>T | CA484994811 | CHD8 | c.5415T>A (p.Ser1805=) c.3952T>A c.6252T>A (p.Ser2084=) n.5408T>A | |
14 | g.21393544G>A | CA388880022 | CHD8 | c.5414C>T (p.Ser1805Phe) c.3951C>T c.6251C>T (p.Ser2084Phe) n.5407C>T | dbSNP gnomAD v2 |
14 | g.21393544G>C | CA388880024 | CHD8 | c.5414C>G (p.Ser1805Cys) c.3951C>G c.6251C>G (p.Ser2084Cys) n.5407C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393544G= | CA2122506023 | CHD8 | c.5414C= (p.Ser1805=) c.3951C= c.6251C= (p.Ser2084=) n.5407C= | |
14 | g.21393544G>T | CA388880025 | CHD8 | c.5414C>A (p.Ser1805Tyr) c.3951C>A c.6251C>A (p.Ser2084Tyr) n.5407C>A | |
14 | g.21393545A>C | CA388880028 | CHD8 | c.5413T>G (p.Ser1805Ala) c.3950T>G c.6250T>G (p.Ser2084Ala) n.5406T>G | |
14 | g.21393545A>G | CA388880030 | CHD8 | c.5413T>C (p.Ser1805Pro) c.3950T>C c.6250T>C (p.Ser2084Pro) n.5406T>C | |
14 | g.21393545A>T | CA388880031 | CHD8 | c.5413T>A (p.Ser1805Thr) c.3950T>A c.6250T>A (p.Ser2084Thr) n.5406T>A | |
14 | g.21393546A>C | CA484994820 | CHD8 | c.5412T>G (p.Ser1804=) c.3949T>G c.6249T>G (p.Ser2083=) n.5405T>G | |
14 | g.21393546A>G | CA484994821 | CHD8 | c.5412T>C (p.Ser1804=) c.3949T>C c.6249T>C (p.Ser2083=) n.5405T>C | |
14 | g.21393546A>T | CA484994822 | CHD8 | c.5412T>A (p.Ser1804=) c.3949T>A c.6249T>A (p.Ser2083=) n.5405T>A | |
14 | g.21393547G>A | CA7090818 | CHD8 | c.5411C>T (p.Ser1804Phe) c.3948C>T c.6248C>T (p.Ser2083Phe) n.5404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.21393547G>C | CA388880034 | CHD8 | c.5411C>G (p.Ser1804Cys) c.3948C>G c.6248C>G (p.Ser2083Cys) n.5404C>G | |
14 | g.21393547G= | CA2122506027 | CHD8 | c.5411C= (p.Ser1804=) c.3948C= c.6248C= (p.Ser2083=) n.5404C= | |
14 | g.21393547G>T | CA388880036 | CHD8 | c.5411C>A (p.Ser1804Tyr) c.3948C>A c.6248C>A (p.Ser2083Tyr) n.5404C>A | |
14 | g.21393548A= | CA2122506030 | CHD8 | c.5410T= (p.Ser1804=) c.3947T= c.6247T= (p.Ser2083=) n.5403T= | |
14 | g.21393548A>C | CA388880039 | CHD8 | c.5410T>G (p.Ser1804Ala) c.3947T>G c.6247T>G (p.Ser2083Ala) n.5403T>G | |
14 | g.21393548A>G | CA257592937 | CHD8 | c.5410T>C (p.Ser1804Pro) c.3947T>C c.6247T>C (p.Ser2083Pro) n.5403T>C | dbSNP gnomAD v4 |
14 | g.21393548A>T | CA388880043 | CHD8 | c.5410T>A (p.Ser1804Thr) c.3947T>A c.6247T>A (p.Ser2083Thr) n.5403T>A | |
14 | g.21393549A>C | CA484994833 | CHD8 | c.5409T>G (p.Ser1803=) c.3946T>G c.6246T>G (p.Ser2082=) n.5402T>G | |
14 | g.21393549A>G | CA484994831 | CHD8 | c.5409T>C (p.Ser1803=) c.3946T>C c.6246T>C (p.Ser2082=) n.5402T>C | |
14 | g.21393549A>T | CA484994832 | CHD8 | c.5409T>A (p.Ser1803=) c.3946T>A c.6246T>A (p.Ser2082=) n.5402T>A | |
14 | g.21393550G>A | CA388880045 | CHD8 | c.5408C>T (p.Ser1803Phe) c.3945C>T c.6245C>T (p.Ser2082Phe) n.5401C>T | |
14 | g.21393550G>C | CA388880049 | CHD8 | c.5408C>G (p.Ser1803Cys) c.3945C>G c.6245C>G (p.Ser2082Cys) n.5401C>G | |
14 | g.21393550G= | CA2122506033 | CHD8 | c.5408C= (p.Ser1803=) c.3945C= c.6245C= (p.Ser2082=) n.5401C= | |
14 | g.21393550G>T | CA257592950 | CHD8 | c.5408C>A (p.Ser1803Tyr) c.3945C>A c.6245C>A (p.Ser2082Tyr) n.5401C>A | dbSNP |
14 | g.21393551A>C | CA388880056 | CHD8 | c.5407T>G (p.Ser1803Ala) c.3944T>G c.6244T>G (p.Ser2082Ala) n.5400T>G | |
14 | g.21393551A>G | CA388880058 | CHD8 | c.5407T>C (p.Ser1803Pro) c.3944T>C c.6244T>C (p.Ser2082Pro) n.5400T>C | gnomAD v4 |
14 | g.21393551A>T | CA388880061 | CHD8 | c.5407T>A (p.Ser1803Thr) c.3944T>A c.6244T>A (p.Ser2082Thr) n.5400T>A | |
14 | g.21393552A= | CA2122506036 | CHD8 | c.5406T= (p.Ser1802=) c.3943T= c.6243T= (p.Ser2081=) n.5399T= | |
14 | g.21393552A>C | CA484994836 | CHD8 | c.5406T>G (p.Ser1802=) c.3943T>G c.6243T>G (p.Ser2081=) n.5399T>G | |
14 | g.21393552A>G | CA484994838 | CHD8 | c.5406T>C (p.Ser1802=) c.3943T>C c.6243T>C (p.Ser2081=) n.5399T>C | |
14 | g.21393552A>T | CA7090819 | CHD8 | c.5406T>A (p.Ser1802=) c.3943T>A c.6243T>A (p.Ser2081=) n.5399T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393553G>A | CA388880064 | CHD8 | c.5405C>T (p.Ser1802Phe) c.3942C>T c.6242C>T (p.Ser2081Phe) n.5398C>T | |
14 | g.21393553G>C | CA388880066 | CHD8 | c.5405C>G (p.Ser1802Cys) c.3942C>G c.6242C>G (p.Ser2081Cys) n.5398C>G | |
14 | g.21393553G>T | CA388880067 | CHD8 | c.5405C>A (p.Ser1802Tyr) c.3942C>A c.6242C>A (p.Ser2081Tyr) n.5398C>A | |
14 | g.21393554A>C | CA388880068 | CHD8 | c.5404T>G (p.Ser1802Ala) c.3941T>G c.6241T>G (p.Ser2081Ala) n.5397T>G | |
14 | g.21393554A>G | CA388880069 | CHD8 | c.5404T>C (p.Ser1802Pro) c.3941T>C c.6241T>C (p.Ser2081Pro) n.5397T>C | |
14 | g.21393554A>T | CA388880071 | CHD8 | c.5404T>A (p.Ser1802Thr) c.3941T>A c.6241T>A (p.Ser2081Thr) n.5397T>A | |
14 | g.21393555T>A | CA484994841 | CHD8 | c.5403A>T (p.Pro1801=) c.3940A>T c.6240A>T (p.Pro2080=) n.5396A>T | |
14 | g.21393555T>C | CA484994843 | CHD8 | c.5403A>G (p.Pro1801=) c.3940A>G c.6240A>G (p.Pro2080=) n.5396A>G | ClinVar gnomAD v4 |
14 | g.21393555T>G | CA484994845 | CHD8 | c.5403A>C (p.Pro1801=) c.3940A>C c.6240A>C (p.Pro2080=) n.5396A>C | |
14 | g.21393556G>A | CA388880074 | CHD8 | c.5402C>T (p.Pro1801Leu) c.3939C>T c.6239C>T (p.Pro2080Leu) n.5395C>T | |
14 | g.21393556G>C | CA388880075 | CHD8 | c.5402C>G (p.Pro1801Arg) c.3939C>G c.6239C>G (p.Pro2080Arg) n.5395C>G | |
14 | g.21393556G>T | CA388880078 | CHD8 | c.5402C>A (p.Pro1801Gln) c.3939C>A c.6239C>A (p.Pro2080Gln) n.5395C>A | |
14 | g.21393557G>A | CA388880086 | CHD8 | c.5401C>T (p.Pro1801Ser) c.3938C>T c.6238C>T (p.Pro2080Ser) n.5394C>T | |
14 | g.21393557G>C | CA388880081 | CHD8 | c.5401C>G (p.Pro1801Ala) c.3938C>G c.6238C>G (p.Pro2080Ala) n.5394C>G | |
14 | g.21393557G>T | CA388880083 | CHD8 | c.5401C>A (p.Pro1801Thr) c.3938C>A c.6238C>A (p.Pro2080Thr) n.5394C>A | |
14 | g.21393558T>A | CA484994851 | CHD8 | c.5400A>T (p.Ser1800=) c.3937A>T c.6237A>T (p.Ser2079=) n.5393A>T | |
14 | g.21393558T>C | CA484994853 | CHD8 | c.5400A>G (p.Ser1800=) c.3937A>G c.6237A>G (p.Ser2079=) n.5393A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393558T>G | CA484994852 | CHD8 | c.5400A>C (p.Ser1800=) c.3937A>C c.6237A>C (p.Ser2079=) n.5393A>C | |
14 | g.21393558T= | CA2122506039 | CHD8 | c.5400A= (p.Ser1800=) c.3937A= c.6237A= (p.Ser2079=) n.5393A= | |
14 | g.21393559G>A | CA388880088 | CHD8 | c.5399C>T (p.Ser1800Leu) c.3936C>T c.6236C>T (p.Ser2079Leu) n.5392C>T | |
14 | g.21393559G>C | CA388880090 | CHD8 | c.5399C>G (p.Ser1800Ter) c.3936C>G c.6236C>G (p.Ser2079Ter) n.5392C>G | COSMIC COSMIC |
14 | g.21393559G>T | CA388880092 | CHD8 | c.5399C>A (p.Ser1800Ter) c.3936C>A c.6236C>A (p.Ser2079Ter) n.5392C>A | |
14 | g.21393560A>C | CA388880094 | CHD8 | c.5398T>G (p.Ser1800Ala) c.3935T>G c.6235T>G (p.Ser2079Ala) n.5391T>G | |
14 | g.21393560A>G | CA388880097 | CHD8 | c.5398T>C (p.Ser1800Pro) c.3935T>C c.6235T>C (p.Ser2079Pro) n.5391T>C | |
14 | g.21393560A>T | CA388880099 | CHD8 | c.5398T>A (p.Ser1800Thr) c.3935T>A c.6235T>A (p.Ser2079Thr) n.5391T>A | |
14 | g.21393561C>A | CA484994860 | CHD8 | c.5397G>T (p.Leu1799=) c.3934G>T c.6234G>T (p.Leu2078=) n.5390G>T | |
14 | g.21393561C>G | CA484994858 | CHD8 | c.5397G>C (p.Leu1799=) c.3934G>C c.6234G>C (p.Leu2078=) n.5390G>C | |
14 | g.21393561C>T | CA484994859 | CHD8 | c.5397G>A (p.Leu1799=) c.3934G>A c.6234G>A (p.Leu2078=) n.5390G>A | |
14 | g.21393562A>C | CA388880100 | CHD8 | c.5396T>G (p.Leu1799Arg) c.3933T>G c.6233T>G (p.Leu2078Arg) n.5389T>G | |
14 | g.21393562A>G | CA388880101 | CHD8 | c.5396T>C (p.Leu1799Pro) c.3933T>C c.6233T>C (p.Leu2078Pro) n.5389T>C | |
14 | g.21393562A>T | CA388880103 | CHD8 | c.5396T>A (p.Leu1799Gln) c.3933T>A c.6233T>A (p.Leu2078Gln) n.5389T>A | |
14 | g.21393563G>A | CA202499 | CHD8 | c.5395C>T (p.Leu1799=) c.3932C>T c.6232C>T (p.Leu2078=) n.5388C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393563G>C | CA388880106 | CHD8 | c.5395C>G (p.Leu1799Val) c.3932C>G c.6232C>G (p.Leu2078Val) n.5388C>G | |
14 | g.21393563G= | CA2122506042 | CHD8 | c.5395C= (p.Leu1799=) c.3932C= c.6232C= (p.Leu2078=) n.5388C= | |
14 | g.21393563G>T | CA388880109 | CHD8 | c.5395C>A (p.Leu1799Met) c.3932C>A c.6232C>A (p.Leu2078Met) n.5388C>A | |
14 | g.21393564C>A | CA388880111 | CHD8 | c.5394G>T (p.Lys1798Asn) c.3931G>T c.6231G>T (p.Lys2077Asn) n.5387G>T | |
14 | g.21393564C= | CA2122506046 | CHD8 | c.5394G= (p.Lys1798=) c.3931G= c.6231G= (p.Lys2077=) n.5387G= | |
14 | g.21393564C>G | CA388880113 | CHD8 | c.5394G>C (p.Lys1798Asn) c.3931G>C c.6231G>C (p.Lys2077Asn) n.5387G>C | |
14 | g.21393564C>T | CA7090820 | CHD8 | c.5394G>A (p.Lys1798=) c.3931G>A c.6231G>A (p.Lys2077=) n.5387G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393565T>A | CA388880117 | CHD8 | c.5393A>T (p.Lys1798Met) c.3930A>T c.6230A>T (p.Lys2077Met) n.5386A>T | |
14 | g.21393565T>C | CA388880120 | CHD8 | c.5393A>G (p.Lys1798Arg) c.3930A>G c.6230A>G (p.Lys2077Arg) n.5386A>G | dbSNP |
14 | g.21393565T>G | CA388880119 | CHD8 | c.5393A>C (p.Lys1798Thr) c.3930A>C c.6230A>C (p.Lys2077Thr) n.5386A>C | |
14 | g.21393566T>A | CA388880123 | CHD8 | c.5392A>T (p.Lys1798Ter) c.3929A>T c.6229A>T (p.Lys2077Ter) n.5385A>T | dbSNP |
14 | g.21393566T>C | CA388880126 | CHD8 | c.5392A>G (p.Lys1798Glu) c.3929A>G c.6229A>G (p.Lys2077Glu) n.5385A>G | |
14 | g.21393566T>G | CA388880124 | CHD8 | c.5392A>C (p.Lys1798Gln) c.3929A>C c.6229A>C (p.Lys2077Gln) n.5385A>C | |
14 | g.21393566T= | CA2122506049 | CHD8 | c.5392A= (p.Lys1798=) c.3929A= c.6229A= (p.Lys2077=) n.5385A= | |
14 | g.21393567del | CA645571677 | CHD8 | c.5391del (p.Ser1797ArgfsTer?) c.3928del c.6228del (p.Ser2076ArgfsTer?) n.5384del | COSMIC COSMIC |
14 | g.21393567G>A | CA484994985 | CHD8 | c.5391C>T (p.Ser1797=) c.3928C>T c.6228C>T (p.Ser2076=) n.5384C>T | |
14 | g.21393567G>C | CA388880128 | CHD8 | c.5391C>G (p.Ser1797Arg) c.3928C>G c.6228C>G (p.Ser2076Arg) n.5384C>G | |
14 | g.21393567G>T | CA388880130 | CHD8 | c.5391C>A (p.Ser1797Arg) c.3928C>A c.6228C>A (p.Ser2076Arg) n.5384C>A | gnomAD v4 |
14 | g.21393568C>A | CA388880133 | CHD8 | c.5390G>T (p.Ser1797Ile) c.3927G>T c.6227G>T (p.Ser2076Ile) n.5383G>T | |
14 | g.21393568C>G | CA388880134 | CHD8 | c.5390G>C (p.Ser1797Thr) c.3927G>C c.6227G>C (p.Ser2076Thr) n.5383G>C | |
14 | g.21393568C>T | CA388880136 | CHD8 | c.5390G>A (p.Ser1797Asn) c.3927G>A c.6227G>A (p.Ser2076Asn) n.5383G>A | |
14 | g.21393569T>A | CA388880139 | CHD8 | c.5389A>T (p.Ser1797Cys) c.3926A>T c.6226A>T (p.Ser2076Cys) n.5382A>T | |
14 | g.21393569T>C | CA388880141 | CHD8 | c.5389A>G (p.Ser1797Gly) c.3926A>G c.6226A>G (p.Ser2076Gly) n.5382A>G | |
14 | g.21393569T>G | CA388880143 | CHD8 | c.5389A>C (p.Ser1797Arg) c.3926A>C c.6226A>C (p.Ser2076Arg) n.5382A>C | |
14 | g.21393570C>A | CA388880146 | CHD8 | c.5388G>T (p.Leu1796Phe) c.3925G>T c.6225G>T (p.Leu2075Phe) n.5381G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393570C= | CA2122506052 | CHD8 | c.5388G= (p.Leu1796=) c.3925G= c.6225G= (p.Leu2075=) n.5381G= | |
14 | g.21393570C>G | CA388880149 | CHD8 | c.5388G>C (p.Leu1796Phe) c.3925G>C c.6225G>C (p.Leu2075Phe) n.5381G>C | COSMIC COSMIC |
14 | g.21393570C>T | CA484994990 | CHD8 | c.5388G>A (p.Leu1796=) c.3925G>A c.6225G>A (p.Leu2075=) n.5381G>A | |
14 | g.21393571A= | CA2122506054 | CHD8 | c.5387T= (p.Leu1796=) c.3924T= c.6224T= (p.Leu2075=) n.5380T= | |
14 | g.21393571A>C | CA388880150 | CHD8 | c.5387T>G (p.Leu1796Trp) c.3924T>G c.6224T>G (p.Leu2075Trp) n.5380T>G | |
14 | g.21393571A>G | CA388880151 | CHD8 | c.5387T>C (p.Leu1796Ser) c.3924T>C c.6224T>C (p.Leu2075Ser) n.5380T>C | gnomAD v4 |
14 | g.21393571A>T | CA388880152 | CHD8 | c.5387T>A (p.Leu1796Ter) c.3924T>A c.6224T>A (p.Leu2075Ter) n.5380T>A | dbSNP |
14 | g.21393572A>C | CA388880153 | CHD8 | c.5386T>G (p.Leu1796Val) c.3923T>G c.6223T>G (p.Leu2075Val) n.5379T>G | |
14 | g.21393572A>G | CA484994993 | CHD8 | c.5386T>C (p.Leu1796=) c.3923T>C c.6223T>C (p.Leu2075=) n.5379T>C | |
14 | g.21393572A>T | CA388880154 | CHD8 | c.5386T>A (p.Leu1796Met) c.3923T>A c.6223T>A (p.Leu2075Met) n.5379T>A | |
14 | g.21393573G>A | CA7090821 | CHD8 | c.5385C>T (p.Asp1795=) c.3922C>T c.6222C>T (p.Asp2074=) n.5378C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393573G>C | CA388880156 | CHD8 | c.5385C>G (p.Asp1795Glu) c.3922C>G c.6222C>G (p.Asp2074Glu) n.5378C>G | |
14 | g.21393573G= | CA2122506058 | CHD8 | c.5385C= (p.Asp1795=) c.3922C= c.6222C= (p.Asp2074=) n.5378C= | |
14 | g.21393573G>T | CA388880155 | CHD8 | c.5385C>A (p.Asp1795Glu) c.3922C>A c.6222C>A (p.Asp2074Glu) n.5378C>A | dbSNP gnomAD v2 |
14 | g.21393574T>A | CA388880157 | CHD8 | c.5384A>T (p.Asp1795Val) c.3921A>T c.6221A>T (p.Asp2074Val) n.5377A>T | |
14 | g.21393574T>C | CA388880158 | CHD8 | c.5384A>G (p.Asp1795Gly) c.3921A>G c.6221A>G (p.Asp2074Gly) n.5377A>G | |
14 | g.21393574T>G | CA388880159 | CHD8 | c.5384A>C (p.Asp1795Ala) c.3921A>C c.6221A>C (p.Asp2074Ala) n.5377A>C | |
14 | g.21393575C>A | CA388880160 | CHD8 | c.5383G>T (p.Asp1795Tyr) c.3920G>T c.6220G>T (p.Asp2074Tyr) n.5376G>T | |
14 | g.21393575C= | CA2122506061 | CHD8 | c.5383G= (p.Asp1795=) c.3920G= c.6220G= (p.Asp2074=) n.5376G= | |
14 | g.21393575C>G | CA388880161 | CHD8 | c.5383G>C (p.Asp1795His) c.3920G>C c.6220G>C (p.Asp2074His) n.5376G>C | |
14 | g.21393575C>T | CA257593021 | CHD8 | c.5383G>A (p.Asp1795Asn) c.3920G>A c.6220G>A (p.Asp2074Asn) n.5376G>A | ClinVar dbSNP |
14 | g.21393576C>A | CA484994997 | CHD8 | c.5382G>T (p.Leu1794=) c.3919G>T c.6219G>T (p.Leu2073=) n.5375G>T | |
14 | g.21393576C>G | CA484994998 | CHD8 | c.5382G>C (p.Leu1794=) c.3919G>C c.6219G>C (p.Leu2073=) n.5375G>C | |
14 | g.21393576C>T | CA484994999 | CHD8 | c.5382G>A (p.Leu1794=) c.3919G>A c.6219G>A (p.Leu2073=) n.5375G>A | |
14 | g.21393577A>C | CA388880162 | CHD8 | c.5381T>G (p.Leu1794Arg) c.3918T>G c.6218T>G (p.Leu2073Arg) n.5374T>G | |
14 | g.21393577A>G | CA388880163 | CHD8 | c.5381T>C (p.Leu1794Pro) c.3918T>C c.6218T>C (p.Leu2073Pro) n.5374T>C | gnomAD v4 |
14 | g.21393577A>T | CA388880164 | CHD8 | c.5381T>A (p.Leu1794Gln) c.3918T>A c.6218T>A (p.Leu2073Gln) n.5374T>A | |
14 | g.21393578G>A | CA484995004 | CHD8 | c.5380C>T (p.Leu1794=) c.3917C>T c.6217C>T (p.Leu2073=) n.5373C>T | dbSNP gnomAD v4 |
14 | g.21393578G>C | CA388880165 | CHD8 | c.5380C>G (p.Leu1794Val) c.3917C>G c.6217C>G (p.Leu2073Val) n.5373C>G | |
14 | g.21393578G= | CA2122506063 | CHD8 | c.5380C= (p.Leu1794=) c.3917C= c.6217C= (p.Leu2073=) n.5373C= | |
14 | g.21393578G>T | CA388880166 | CHD8 | c.5380C>A (p.Leu1794Met) c.3917C>A c.6217C>A (p.Leu2073Met) n.5373C>A | |
14 | g.21393579C>A | CA388880167 | CHD8 | c.5379G>T (p.Glu1793Asp) c.3916G>T c.6216G>T (p.Glu2072Asp) n.5372G>T | |
14 | g.21393579C>G | CA388880168 | CHD8 | c.5379G>C (p.Glu1793Asp) c.3916G>C c.6216G>C (p.Glu2072Asp) n.5372G>C | |
14 | g.21393579C>T | CA484995005 | CHD8 | c.5379G>A (p.Glu1793=) c.3916G>A c.6216G>A (p.Glu2072=) n.5372G>A | gnomAD v4 |
14 | g.21393580T>A | CA388880169 | CHD8 | c.5378A>T (p.Glu1793Val) c.3915A>T c.6215A>T (p.Glu2072Val) n.5371A>T | |
14 | g.21393580T>C | CA388880170 | CHD8 | c.5378A>G (p.Glu1793Gly) c.3915A>G c.6215A>G (p.Glu2072Gly) n.5371A>G | |
14 | g.21393580T>G | CA388880171 | CHD8 | c.5378A>C (p.Glu1793Ala) c.3915A>C c.6215A>C (p.Glu2072Ala) n.5371A>C | |
14 | g.21393581C>A | CA388880172 | CHD8 | c.5377G>T (p.Glu1793Ter) c.3914G>T c.6214G>T (p.Glu2072Ter) n.5370G>T | dbSNP |
14 | g.21393581C= | CA2122506065 | CHD8 | c.5377G= (p.Glu1793=) c.3914G= c.6214G= (p.Glu2072=) n.5370G= | |
14 | g.21393581C>G | CA388880173 | CHD8 | c.5377G>C (p.Glu1793Gln) c.3914G>C c.6214G>C (p.Glu2072Gln) n.5370G>C | |
14 | g.21393581C>T | CA388880174 | CHD8 | c.5377G>A (p.Glu1793Lys) c.3914G>A c.6214G>A (p.Glu2072Lys) n.5370G>A |