Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60865167_60865186dup | CA2695203179 | CHD7 | n.1404_1423dup n.335_354dup c.*1287_*1306dup (n.*1287_*1306dup) c.8228_8247dup (p.Phe2750LeufsTer4) c.2081_2100dup (p.Phe701LeufsTer4) n.274_293dup c.8318_8337dup (p.Phe2780LeufsTer4) c.8315_8334dup (p.Phe2779LeufsTer4) c.8096_8115dup (p.Phe2706LeufsTer4) c.6305_6324dup (p.Phe2109LeufsTer4) c.5855_5874dup (p.Phe1959LeufsTer4) c.5063_5082dup (p.Phe1695LeufsTer4) c.8225_8244dup (p.Phe2749LeufsTer4) | |
8 | g.60865185T>A | CA371307914 | CHD7 | n.1422T>A n.353T>A c.*1305T>A (n.*1305T>A) c.8246T>A (p.Leu2749Gln) c.2099T>A (p.Leu700Gln) n.292T>A c.8336T>A (p.Leu2779Gln) c.8333T>A (p.Leu2778Gln) c.8114T>A (p.Leu2705Gln) c.6323T>A (p.Leu2108Gln) c.5873T>A (p.Leu1958Gln) c.5081T>A (p.Leu1694Gln) c.8243T>A (p.Leu2748Gln) | |
8 | g.60865185T>C | CA371307915 | CHD7 | n.1422T>C n.353T>C c.*1305T>C (n.*1305T>C) c.8246T>C (p.Leu2749Pro) c.2099T>C (p.Leu700Pro) n.292T>C c.8336T>C (p.Leu2779Pro) c.8333T>C (p.Leu2778Pro) c.8114T>C (p.Leu2705Pro) c.6323T>C (p.Leu2108Pro) c.5873T>C (p.Leu1958Pro) c.5081T>C (p.Leu1694Pro) c.8243T>C (p.Leu2748Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865185T>G | CA371307917 | CHD7 | n.1422T>G n.353T>G c.*1305T>G (n.*1305T>G) c.8246T>G (p.Leu2749Arg) c.2099T>G (p.Leu700Arg) n.292T>G c.8336T>G (p.Leu2779Arg) c.8333T>G (p.Leu2778Arg) c.8114T>G (p.Leu2705Arg) c.6323T>G (p.Leu2108Arg) c.5873T>G (p.Leu1958Arg) c.5081T>G (p.Leu1694Arg) c.8243T>G (p.Leu2748Arg) | |
8 | g.60865185T= | CA1788129380 | CHD7 | n.1422T= n.353T= c.*1305T= (n.*1305T=) c.8246T= (p.Leu2749=) c.2099T= (p.Leu700=) n.292T= c.8336T= (p.Leu2779=) c.8333T= (p.Leu2778=) c.8114T= (p.Leu2705=) c.6323T= (p.Leu2108=) c.5873T= (p.Leu1958=) c.5081T= (p.Leu1694=) c.8243T= (p.Leu2748=) | |
8 | g.60865186G>A | CA461105863 | CHD7 | n.1423G>A n.354G>A c.*1306G>A (n.*1306G>A) c.8247G>A (p.Leu2749=) c.2100G>A (p.Leu700=) n.293G>A c.8337G>A (p.Leu2779=) c.8334G>A (p.Leu2778=) c.8115G>A (p.Leu2705=) c.6324G>A (p.Leu2108=) c.5874G>A (p.Leu1958=) c.5082G>A (p.Leu1694=) c.8244G>A (p.Leu2748=) | |
8 | g.60865186G>C | CA461105864 | CHD7 | n.1423G>C n.354G>C c.*1306G>C (n.*1306G>C) c.8247G>C (p.Leu2749=) c.2100G>C (p.Leu700=) n.293G>C c.8337G>C (p.Leu2779=) c.8334G>C (p.Leu2778=) c.8115G>C (p.Leu2705=) c.6324G>C (p.Leu2108=) c.5874G>C (p.Leu1958=) c.5082G>C (p.Leu1694=) c.8244G>C (p.Leu2748=) | |
8 | g.60865186G>T | CA461105865 | CHD7 | n.1423G>T n.354G>T c.*1306G>T (n.*1306G>T) c.8247G>T (p.Leu2749=) c.2100G>T (p.Leu700=) n.293G>T c.8337G>T (p.Leu2779=) c.8334G>T (p.Leu2778=) c.8115G>T (p.Leu2705=) c.6324G>T (p.Leu2108=) c.5874G>T (p.Leu1958=) c.5082G>T (p.Leu1694=) c.8244G>T (p.Leu2748=) | |
8 | g.60865187T>A | CA371307919 | CHD7 | n.1424T>A n.355T>A c.*1307T>A (n.*1307T>A) c.8248T>A (p.Phe2750Ile) c.2101T>A (p.Phe701Ile) n.294T>A c.8338T>A (p.Phe2780Ile) c.8335T>A (p.Phe2779Ile) c.8116T>A (p.Phe2706Ile) c.6325T>A (p.Phe2109Ile) c.5875T>A (p.Phe1959Ile) c.5083T>A (p.Phe1695Ile) c.8245T>A (p.Phe2749Ile) | |
8 | g.60865187T>C | CA371307922 | CHD7 | n.1424T>C n.355T>C c.*1307T>C (n.*1307T>C) c.8248T>C (p.Phe2750Leu) c.2101T>C (p.Phe701Leu) n.294T>C c.8338T>C (p.Phe2780Leu) c.8335T>C (p.Phe2779Leu) c.8116T>C (p.Phe2706Leu) c.6325T>C (p.Phe2109Leu) c.5875T>C (p.Phe1959Leu) c.5083T>C (p.Phe1695Leu) c.8245T>C (p.Phe2749Leu) | |
8 | g.60865187T>G | CA371307924 | CHD7 | n.1424T>G n.355T>G c.*1307T>G (n.*1307T>G) c.8248T>G (p.Phe2750Val) c.2101T>G (p.Phe701Val) n.294T>G c.8338T>G (p.Phe2780Val) c.8335T>G (p.Phe2779Val) c.8116T>G (p.Phe2706Val) c.6325T>G (p.Phe2109Val) c.5875T>G (p.Phe1959Val) c.5083T>G (p.Phe1695Val) c.8245T>G (p.Phe2749Val) | |
8 | g.60865188T>A | CA371307927 | CHD7 | n.1425T>A n.356T>A c.*1308T>A (n.*1308T>A) c.8249T>A (p.Phe2750Tyr) c.2102T>A (p.Phe701Tyr) n.295T>A c.8339T>A (p.Phe2780Tyr) c.8336T>A (p.Phe2779Tyr) c.8117T>A (p.Phe2706Tyr) c.6326T>A (p.Phe2109Tyr) c.5876T>A (p.Phe1959Tyr) c.5084T>A (p.Phe1695Tyr) c.8246T>A (p.Phe2749Tyr) | |
8 | g.60865188T>C | CA371307928 | CHD7 | n.1425T>C n.356T>C c.*1308T>C (n.*1308T>C) c.8249T>C (p.Phe2750Ser) c.2102T>C (p.Phe701Ser) n.295T>C c.8339T>C (p.Phe2780Ser) c.8336T>C (p.Phe2779Ser) c.8117T>C (p.Phe2706Ser) c.6326T>C (p.Phe2109Ser) c.5876T>C (p.Phe1959Ser) c.5084T>C (p.Phe1695Ser) c.8246T>C (p.Phe2749Ser) | |
8 | g.60865188T>G | CA371307929 | CHD7 | n.1425T>G n.356T>G c.*1308T>G (n.*1308T>G) c.8249T>G (p.Phe2750Cys) c.2102T>G (p.Phe701Cys) n.295T>G c.8339T>G (p.Phe2780Cys) c.8336T>G (p.Phe2779Cys) c.8117T>G (p.Phe2706Cys) c.6326T>G (p.Phe2109Cys) c.5876T>G (p.Phe1959Cys) c.5084T>G (p.Phe1695Cys) c.8246T>G (p.Phe2749Cys) | |
8 | g.60865189T>A | CA371307931 | CHD7 | n.1426T>A n.357T>A c.*1309T>A (n.*1309T>A) c.8250T>A (p.Phe2750Leu) c.2103T>A (p.Phe701Leu) n.296T>A c.8340T>A (p.Phe2780Leu) c.8337T>A (p.Phe2779Leu) c.8118T>A (p.Phe2706Leu) c.6327T>A (p.Phe2109Leu) c.5877T>A (p.Phe1959Leu) c.5085T>A (p.Phe1695Leu) c.8247T>A (p.Phe2749Leu) | |
8 | g.60865189T>C | CA461105866 | CHD7 | n.1426T>C n.357T>C c.*1309T>C (n.*1309T>C) c.8250T>C (p.Phe2750=) c.2103T>C (p.Phe701=) n.296T>C c.8340T>C (p.Phe2780=) c.8337T>C (p.Phe2779=) c.8118T>C (p.Phe2706=) c.6327T>C (p.Phe2109=) c.5877T>C (p.Phe1959=) c.5085T>C (p.Phe1695=) c.8247T>C (p.Phe2749=) | |
8 | g.60865189T>G | CA4760972 | CHD7 | n.1426T>G n.357T>G c.*1309T>G (n.*1309T>G) c.8250T>G (p.Phe2750Leu) c.2103T>G (p.Phe701Leu) n.296T>G c.8340T>G (p.Phe2780Leu) c.8337T>G (p.Phe2779Leu) c.8118T>G (p.Phe2706Leu) c.6327T>G (p.Phe2109Leu) c.5877T>G (p.Phe1959Leu) c.5085T>G (p.Phe1695Leu) c.8247T>G (p.Phe2749Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865189T= | CA1788129386 | CHD7 | n.1426T= n.357T= c.*1309T= (n.*1309T=) c.8250T= (p.Phe2750=) c.2103T= (p.Phe701=) n.296T= c.8340T= (p.Phe2780=) c.8337T= (p.Phe2779=) c.8118T= (p.Phe2706=) c.6327T= (p.Phe2109=) c.5877T= (p.Phe1959=) c.5085T= (p.Phe1695=) c.8247T= (p.Phe2749=) | |
8 | g.60865190G>A | CA371307941 | CHD7 | n.1427G>A n.358G>A c.*1310G>A (n.*1310G>A) c.8251G>A (p.Ala2751Thr) c.2104G>A (p.Ala702Thr) n.297G>A c.8341G>A (p.Ala2781Thr) c.8338G>A (p.Ala2780Thr) c.8119G>A (p.Ala2707Thr) c.6328G>A (p.Ala2110Thr) c.5878G>A (p.Ala1960Thr) c.5086G>A (p.Ala1696Thr) c.8248G>A (p.Ala2750Thr) | gnomAD v4 |
8 | g.60865190G>C | CA4760973 | CHD7 | n.1427G>C n.358G>C c.*1310G>C (n.*1310G>C) c.8251G>C (p.Ala2751Pro) c.2104G>C (p.Ala702Pro) n.297G>C c.8341G>C (p.Ala2781Pro) c.8338G>C (p.Ala2780Pro) c.8119G>C (p.Ala2707Pro) c.6328G>C (p.Ala2110Pro) c.5878G>C (p.Ala1960Pro) c.5086G>C (p.Ala1696Pro) c.8248G>C (p.Ala2750Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865190G= | CA1788129396 | CHD7 | n.1427G= n.358G= c.*1310G= (n.*1310G=) c.8251G= (p.Ala2751=) c.2104G= (p.Ala702=) n.297G= c.8341G= (p.Ala2781=) c.8338G= (p.Ala2780=) c.8119G= (p.Ala2707=) c.6328G= (p.Ala2110=) c.5878G= (p.Ala1960=) c.5086G= (p.Ala1696=) c.8248G= (p.Ala2750=) | |
8 | g.60865190G>T | CA371307935 | CHD7 | n.1427G>T n.358G>T c.*1310G>T (n.*1310G>T) c.8251G>T (p.Ala2751Ser) c.2104G>T (p.Ala702Ser) n.297G>T c.8341G>T (p.Ala2781Ser) c.8338G>T (p.Ala2780Ser) c.8119G>T (p.Ala2707Ser) c.6328G>T (p.Ala2110Ser) c.5878G>T (p.Ala1960Ser) c.5086G>T (p.Ala1696Ser) c.8248G>T (p.Ala2750Ser) | |
8 | g.60865191C>A | CA371307943 | CHD7 | n.1428C>A n.359C>A c.*1311C>A (n.*1311C>A) c.8252C>A (p.Ala2751Asp) c.2105C>A (p.Ala702Asp) n.298C>A c.8342C>A (p.Ala2781Asp) c.8339C>A (p.Ala2780Asp) c.8120C>A (p.Ala2707Asp) c.6329C>A (p.Ala2110Asp) c.5879C>A (p.Ala1960Asp) c.5087C>A (p.Ala1696Asp) c.8249C>A (p.Ala2750Asp) | |
8 | g.60865191C>G | CA371307951 | CHD7 | n.1428C>G n.359C>G c.*1311C>G (n.*1311C>G) c.8252C>G (p.Ala2751Gly) c.2105C>G (p.Ala702Gly) n.298C>G c.8342C>G (p.Ala2781Gly) c.8339C>G (p.Ala2780Gly) c.8120C>G (p.Ala2707Gly) c.6329C>G (p.Ala2110Gly) c.5879C>G (p.Ala1960Gly) c.5087C>G (p.Ala1696Gly) c.8249C>G (p.Ala2750Gly) | |
8 | g.60865191C>T | CA371307944 | CHD7 | n.1428C>T n.359C>T c.*1311C>T (n.*1311C>T) c.8252C>T (p.Ala2751Val) c.2105C>T (p.Ala702Val) n.298C>T c.8342C>T (p.Ala2781Val) c.8339C>T (p.Ala2780Val) c.8120C>T (p.Ala2707Val) c.6329C>T (p.Ala2110Val) c.5879C>T (p.Ala1960Val) c.5087C>T (p.Ala1696Val) c.8249C>T (p.Ala2750Val) | |
8 | g.60865192T>A | CA461105867 | CHD7 | n.1429T>A n.360T>A c.*1312T>A (n.*1312T>A) c.8253T>A (p.Ala2751=) c.2106T>A (p.Ala702=) n.299T>A c.8343T>A (p.Ala2781=) c.8340T>A (p.Ala2780=) c.8121T>A (p.Ala2707=) c.6330T>A (p.Ala2110=) c.5880T>A (p.Ala1960=) c.5088T>A (p.Ala1696=) c.8250T>A (p.Ala2750=) | |
8 | g.60865192T>C | CA461105868 | CHD7 | n.1429T>C n.360T>C c.*1312T>C (n.*1312T>C) c.8253T>C (p.Ala2751=) c.2106T>C (p.Ala702=) n.299T>C c.8343T>C (p.Ala2781=) c.8340T>C (p.Ala2780=) c.8121T>C (p.Ala2707=) c.6330T>C (p.Ala2110=) c.5880T>C (p.Ala1960=) c.5088T>C (p.Ala1696=) c.8250T>C (p.Ala2750=) | gnomAD v4 |
8 | g.60865192T>G | CA461105870 | CHD7 | n.1429T>G n.360T>G c.*1312T>G (n.*1312T>G) c.8253T>G (p.Ala2751=) c.2106T>G (p.Ala702=) n.299T>G c.8343T>G (p.Ala2781=) c.8340T>G (p.Ala2780=) c.8121T>G (p.Ala2707=) c.6330T>G (p.Ala2110=) c.5880T>G (p.Ala1960=) c.5088T>G (p.Ala1696=) c.8250T>G (p.Ala2750=) | |
8 | g.60865193G>A | CA4760974 | CHD7 | n.1430G>A n.361G>A c.*1313G>A (n.*1313G>A) c.8254G>A (p.Gly2752Arg) c.2107G>A (p.Gly703Arg) n.300G>A c.8344G>A (p.Gly2782Arg) c.8341G>A (p.Gly2781Arg) c.8122G>A (p.Gly2708Arg) c.6331G>A (p.Gly2111Arg) c.5881G>A (p.Gly1961Arg) c.5089G>A (p.Gly1697Arg) c.8251G>A (p.Gly2751Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865193G>C | CA371307956 | CHD7 | n.1430G>C n.361G>C c.*1313G>C (n.*1313G>C) c.8254G>C (p.Gly2752Arg) c.2107G>C (p.Gly703Arg) n.300G>C c.8344G>C (p.Gly2782Arg) c.8341G>C (p.Gly2781Arg) c.8122G>C (p.Gly2708Arg) c.6331G>C (p.Gly2111Arg) c.5881G>C (p.Gly1961Arg) c.5089G>C (p.Gly1697Arg) c.8251G>C (p.Gly2751Arg) | |
8 | g.60865193G= | CA1788129405 | CHD7 | n.1430G= n.361G= c.*1313G= (n.*1313G=) c.8254G= (p.Gly2752=) c.2107G= (p.Gly703=) n.300G= c.8344G= (p.Gly2782=) c.8341G= (p.Gly2781=) c.8122G= (p.Gly2708=) c.6331G= (p.Gly2111=) c.5881G= (p.Gly1961=) c.5089G= (p.Gly1697=) c.8251G= (p.Gly2751=) | |
8 | g.60865193G>T | CA371307955 | CHD7 | n.1430G>T n.361G>T c.*1313G>T (n.*1313G>T) c.8254G>T (p.Gly2752Ter) c.2107G>T (p.Gly703Ter) n.300G>T c.8344G>T (p.Gly2782Ter) c.8341G>T (p.Gly2781Ter) c.8122G>T (p.Gly2708Ter) c.6331G>T (p.Gly2111Ter) c.5881G>T (p.Gly1961Ter) c.5089G>T (p.Gly1697Ter) c.8251G>T (p.Gly2751Ter) | |
8 | g.60865194G>A | CA371307960 | CHD7 | n.1431G>A n.362G>A c.*1314G>A (n.*1314G>A) c.8255G>A (p.Gly2752Glu) c.2108G>A (p.Gly703Glu) n.301G>A c.8345G>A (p.Gly2782Glu) c.8342G>A (p.Gly2781Glu) c.8123G>A (p.Gly2708Glu) c.6332G>A (p.Gly2111Glu) c.5882G>A (p.Gly1961Glu) c.5090G>A (p.Gly1697Glu) c.8252G>A (p.Gly2751Glu) | gnomAD v4 |
8 | g.60865194G>C | CA371307962 | CHD7 | n.1431G>C n.362G>C c.*1314G>C (n.*1314G>C) c.8255G>C (p.Gly2752Ala) c.2108G>C (p.Gly703Ala) n.301G>C c.8345G>C (p.Gly2782Ala) c.8342G>C (p.Gly2781Ala) c.8123G>C (p.Gly2708Ala) c.6332G>C (p.Gly2111Ala) c.5882G>C (p.Gly1961Ala) c.5090G>C (p.Gly1697Ala) c.8252G>C (p.Gly2751Ala) | |
8 | g.60865194G>T | CA371307964 | CHD7 | n.1431G>T n.362G>T c.*1314G>T (n.*1314G>T) c.8255G>T (p.Gly2752Val) c.2108G>T (p.Gly703Val) n.301G>T c.8345G>T (p.Gly2782Val) c.8342G>T (p.Gly2781Val) c.8123G>T (p.Gly2708Val) c.6332G>T (p.Gly2111Val) c.5882G>T (p.Gly1961Val) c.5090G>T (p.Gly1697Val) c.8252G>T (p.Gly2751Val) | ClinVar |
8 | g.60865195A>C | CA461105872 | CHD7 | n.1432A>C n.363A>C c.*1315A>C (n.*1315A>C) c.8256A>C (p.Gly2752=) c.2109A>C (p.Gly703=) n.302A>C c.8346A>C (p.Gly2782=) c.8343A>C (p.Gly2781=) c.8124A>C (p.Gly2708=) c.6333A>C (p.Gly2111=) c.5883A>C (p.Gly1961=) c.5091A>C (p.Gly1697=) c.8253A>C (p.Gly2751=) | |
8 | g.60865195A>G | CA461105873 | CHD7 | n.1432A>G n.363A>G c.*1315A>G (n.*1315A>G) c.8256A>G (p.Gly2752=) c.2109A>G (p.Gly703=) n.302A>G c.8346A>G (p.Gly2782=) c.8343A>G (p.Gly2781=) c.8124A>G (p.Gly2708=) c.6333A>G (p.Gly2111=) c.5883A>G (p.Gly1961=) c.5091A>G (p.Gly1697=) c.8253A>G (p.Gly2751=) | gnomAD v4 |
8 | g.60865195A>T | CA461105874 | CHD7 | n.1432A>T n.363A>T c.*1315A>T (n.*1315A>T) c.8256A>T (p.Gly2752=) c.2109A>T (p.Gly703=) n.302A>T c.8346A>T (p.Gly2782=) c.8343A>T (p.Gly2781=) c.8124A>T (p.Gly2708=) c.6333A>T (p.Gly2111=) c.5883A>T (p.Gly1961=) c.5091A>T (p.Gly1697=) c.8253A>T (p.Gly2751=) | |
8 | g.60865196A>C | CA371307966 | CHD7 | n.1433A>C n.364A>C c.*1316A>C (n.*1316A>C) c.8257A>C (p.Met2753Leu) c.2110A>C (p.Met704Leu) n.303A>C c.8347A>C (p.Met2783Leu) c.8344A>C (p.Met2782Leu) c.8125A>C (p.Met2709Leu) c.6334A>C (p.Met2112Leu) c.5884A>C (p.Met1962Leu) c.5092A>C (p.Met1698Leu) c.8254A>C (p.Met2752Leu) | |
8 | g.60865196A>G | CA371307968 | CHD7 | n.1433A>G n.364A>G c.*1316A>G (n.*1316A>G) c.8257A>G (p.Met2753Val) c.2110A>G (p.Met704Val) n.303A>G c.8347A>G (p.Met2783Val) c.8344A>G (p.Met2782Val) c.8125A>G (p.Met2709Val) c.6334A>G (p.Met2112Val) c.5884A>G (p.Met1962Val) c.5092A>G (p.Met1698Val) c.8254A>G (p.Met2752Val) | ClinVar |
8 | g.60865196A>T | CA371307971 | CHD7 | n.1433A>T n.364A>T c.*1316A>T (n.*1316A>T) c.8257A>T (p.Met2753Leu) c.2110A>T (p.Met704Leu) n.303A>T c.8347A>T (p.Met2783Leu) c.8344A>T (p.Met2782Leu) c.8125A>T (p.Met2709Leu) c.6334A>T (p.Met2112Leu) c.5884A>T (p.Met1962Leu) c.5092A>T (p.Met1698Leu) c.8254A>T (p.Met2752Leu) | |
8 | g.60865197T>A | CA371307974 | CHD7 | n.1434T>A n.365T>A c.*1317T>A (n.*1317T>A) c.8258T>A (p.Met2753Lys) c.2111T>A (p.Met704Lys) n.304T>A c.8348T>A (p.Met2783Lys) c.8345T>A (p.Met2782Lys) c.8126T>A (p.Met2709Lys) c.6335T>A (p.Met2112Lys) c.5885T>A (p.Met1962Lys) c.5093T>A (p.Met1698Lys) c.8255T>A (p.Met2752Lys) | |
8 | g.60865197T>C | CA4760975 | CHD7 | n.1434T>C n.365T>C c.*1317T>C (n.*1317T>C) c.8258T>C (p.Met2753Thr) c.2111T>C (p.Met704Thr) n.304T>C c.8348T>C (p.Met2783Thr) c.8345T>C (p.Met2782Thr) c.8126T>C (p.Met2709Thr) c.6335T>C (p.Met2112Thr) c.5885T>C (p.Met1962Thr) c.5093T>C (p.Met1698Thr) c.8255T>C (p.Met2752Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865197T>G | CA4760976 | CHD7 | n.1434T>G n.365T>G c.*1317T>G (n.*1317T>G) c.8258T>G (p.Met2753Arg) c.2111T>G (p.Met704Arg) n.304T>G c.8348T>G (p.Met2783Arg) c.8345T>G (p.Met2782Arg) c.8126T>G (p.Met2709Arg) c.6335T>G (p.Met2112Arg) c.5885T>G (p.Met1962Arg) c.5093T>G (p.Met1698Arg) c.8255T>G (p.Met2752Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865197T= | CA1788129409 | CHD7 | n.1434T= n.365T= c.*1317T= (n.*1317T=) c.8258T= (p.Met2753=) c.2111T= (p.Met704=) n.304T= c.8348T= (p.Met2783=) c.8345T= (p.Met2782=) c.8126T= (p.Met2709=) c.6335T= (p.Met2112=) c.5885T= (p.Met1962=) c.5093T= (p.Met1698=) c.8255T= (p.Met2752=) | |
8 | g.60865198G>A | CA371307978 | CHD7 | n.1435G>A n.366G>A c.*1318G>A (n.*1318G>A) c.8259G>A (p.Met2753Ile) c.2112G>A (p.Met704Ile) n.305G>A c.8349G>A (p.Met2783Ile) c.8346G>A (p.Met2782Ile) c.8127G>A (p.Met2709Ile) c.6336G>A (p.Met2112Ile) c.5886G>A (p.Met1962Ile) c.5094G>A (p.Met1698Ile) c.8256G>A (p.Met2752Ile) | ClinVar gnomAD v4 |
8 | g.60865198G>C | CA371307980 | CHD7 | n.1435G>C n.366G>C c.*1318G>C (n.*1318G>C) c.8259G>C (p.Met2753Ile) c.2112G>C (p.Met704Ile) n.305G>C c.8349G>C (p.Met2783Ile) c.8346G>C (p.Met2782Ile) c.8127G>C (p.Met2709Ile) c.6336G>C (p.Met2112Ile) c.5886G>C (p.Met1962Ile) c.5094G>C (p.Met1698Ile) c.8256G>C (p.Met2752Ile) | |
8 | g.60865198G>T | CA371307985 | CHD7 | n.1435G>T n.366G>T c.*1318G>T (n.*1318G>T) c.8259G>T (p.Met2753Ile) c.2112G>T (p.Met704Ile) n.305G>T c.8349G>T (p.Met2783Ile) c.8346G>T (p.Met2782Ile) c.8127G>T (p.Met2709Ile) c.6336G>T (p.Met2112Ile) c.5886G>T (p.Met1962Ile) c.5094G>T (p.Met1698Ile) c.8256G>T (p.Met2752Ile) | |
8 | g.60865199G>A | CA371307993 | CHD7 | n.1436G>A n.367G>A c.*1319G>A (n.*1319G>A) c.8260G>A (p.Asp2754Asn) c.2113G>A (p.Asp705Asn) n.306G>A c.8350G>A (p.Asp2784Asn) c.8347G>A (p.Asp2783Asn) c.8128G>A (p.Asp2710Asn) c.6337G>A (p.Asp2113Asn) c.5887G>A (p.Asp1963Asn) c.5095G>A (p.Asp1699Asn) c.8257G>A (p.Asp2753Asn) | |
8 | g.60865199G>C | CA371307988 | CHD7 | n.1436G>C n.367G>C c.*1319G>C (n.*1319G>C) c.8260G>C (p.Asp2754His) c.2113G>C (p.Asp705His) n.306G>C c.8350G>C (p.Asp2784His) c.8347G>C (p.Asp2783His) c.8128G>C (p.Asp2710His) c.6337G>C (p.Asp2113His) c.5887G>C (p.Asp1963His) c.5095G>C (p.Asp1699His) c.8257G>C (p.Asp2753His) | |
8 | g.60865199G>T | CA371307990 | CHD7 | n.1436G>T n.367G>T c.*1319G>T (n.*1319G>T) c.8260G>T (p.Asp2754Tyr) c.2113G>T (p.Asp705Tyr) n.306G>T c.8350G>T (p.Asp2784Tyr) c.8347G>T (p.Asp2783Tyr) c.8128G>T (p.Asp2710Tyr) c.6337G>T (p.Asp2113Tyr) c.5887G>T (p.Asp1963Tyr) c.5095G>T (p.Asp1699Tyr) c.8257G>T (p.Asp2753Tyr) | |
8 | g.60865200A>C | CA371307995 | CHD7 | n.1437A>C n.368A>C c.*1320A>C (n.*1320A>C) c.8261A>C (p.Asp2754Ala) c.2114A>C (p.Asp705Ala) n.307A>C c.8351A>C (p.Asp2784Ala) c.8348A>C (p.Asp2783Ala) c.8129A>C (p.Asp2710Ala) c.6338A>C (p.Asp2113Ala) c.5888A>C (p.Asp1963Ala) c.5096A>C (p.Asp1699Ala) c.8258A>C (p.Asp2753Ala) | |
8 | g.60865200A>G | CA371307997 | CHD7 | n.1437A>G n.368A>G c.*1320A>G (n.*1320A>G) c.8261A>G (p.Asp2754Gly) c.2114A>G (p.Asp705Gly) n.307A>G c.8351A>G (p.Asp2784Gly) c.8348A>G (p.Asp2783Gly) c.8129A>G (p.Asp2710Gly) c.6338A>G (p.Asp2113Gly) c.5888A>G (p.Asp1963Gly) c.5096A>G (p.Asp1699Gly) c.8258A>G (p.Asp2753Gly) | |
8 | g.60865200A>T | CA371307998 | CHD7 | n.1437A>T n.368A>T c.*1320A>T (n.*1320A>T) c.8261A>T (p.Asp2754Val) c.2114A>T (p.Asp705Val) n.307A>T c.8351A>T (p.Asp2784Val) c.8348A>T (p.Asp2783Val) c.8129A>T (p.Asp2710Val) c.6338A>T (p.Asp2113Val) c.5888A>T (p.Asp1963Val) c.5096A>T (p.Asp1699Val) c.8258A>T (p.Asp2753Val) | |
8 | g.60865201C>A | CA371308000 | CHD7 | n.1438C>A n.369C>A c.*1321C>A (n.*1321C>A) c.8262C>A (p.Asp2754Glu) c.2115C>A (p.Asp705Glu) n.308C>A c.8352C>A (p.Asp2784Glu) c.8349C>A (p.Asp2783Glu) c.8130C>A (p.Asp2710Glu) c.6339C>A (p.Asp2113Glu) c.5889C>A (p.Asp1963Glu) c.5097C>A (p.Asp1699Glu) c.8259C>A (p.Asp2753Glu) | |
8 | g.60865201C= | CA1788129414 | CHD7 | n.1438C= n.369C= c.*1321C= (n.*1321C=) c.8262C= (p.Asp2754=) c.2115C= (p.Asp705=) n.308C= c.8352C= (p.Asp2784=) c.8349C= (p.Asp2783=) c.8130C= (p.Asp2710=) c.6339C= (p.Asp2113=) c.5889C= (p.Asp1963=) c.5097C= (p.Asp1699=) c.8259C= (p.Asp2753=) | |
8 | g.60865201C>G | CA371308002 | CHD7 | n.1438C>G n.369C>G c.*1321C>G (n.*1321C>G) c.8262C>G (p.Asp2754Glu) c.2115C>G (p.Asp705Glu) n.308C>G c.8352C>G (p.Asp2784Glu) c.8349C>G (p.Asp2783Glu) c.8130C>G (p.Asp2710Glu) c.6339C>G (p.Asp2113Glu) c.5889C>G (p.Asp1963Glu) c.5097C>G (p.Asp1699Glu) c.8259C>G (p.Asp2753Glu) | ClinVar dbSNP |
8 | g.60865201C>T | CA461105876 | CHD7 | n.1438C>T n.369C>T c.*1321C>T (n.*1321C>T) c.8262C>T (p.Asp2754=) c.2115C>T (p.Asp705=) n.308C>T c.8352C>T (p.Asp2784=) c.8349C>T (p.Asp2783=) c.8130C>T (p.Asp2710=) c.6339C>T (p.Asp2113=) c.5889C>T (p.Asp1963=) c.5097C>T (p.Asp1699=) c.8259C>T (p.Asp2753=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865202C>A | CA371308004 | CHD7 | n.1439C>A n.370C>A c.*1322C>A (n.*1322C>A) c.8263C>A (p.Leu2755Met) c.2116C>A (p.Leu706Met) n.309C>A c.8353C>A (p.Leu2785Met) c.8350C>A (p.Leu2784Met) c.8131C>A (p.Leu2711Met) c.6340C>A (p.Leu2114Met) c.5890C>A (p.Leu1964Met) c.5098C>A (p.Leu1700Met) c.8260C>A (p.Leu2754Met) | |
8 | g.60865202C= | CA1788129422 | CHD7 | n.1439C= n.370C= c.*1322C= (n.*1322C=) c.8263C= (p.Leu2755=) c.2116C= (p.Leu706=) n.309C= c.8353C= (p.Leu2785=) c.8350C= (p.Leu2784=) c.8131C= (p.Leu2711=) c.6340C= (p.Leu2114=) c.5890C= (p.Leu1964=) c.5098C= (p.Leu1700=) c.8260C= (p.Leu2754=) | |
8 | g.60865202C>G | CA371308007 | CHD7 | n.1439C>G n.370C>G c.*1322C>G (n.*1322C>G) c.8263C>G (p.Leu2755Val) c.2116C>G (p.Leu706Val) n.309C>G c.8353C>G (p.Leu2785Val) c.8350C>G (p.Leu2784Val) c.8131C>G (p.Leu2711Val) c.6340C>G (p.Leu2114Val) c.5890C>G (p.Leu1964Val) c.5098C>G (p.Leu1700Val) c.8260C>G (p.Leu2754Val) | |
8 | g.60865202C>T | CA461105879 | CHD7 | n.1439C>T n.370C>T c.*1322C>T (n.*1322C>T) c.8263C>T (p.Leu2755=) c.2116C>T (p.Leu706=) n.309C>T c.8353C>T (p.Leu2785=) c.8350C>T (p.Leu2784=) c.8131C>T (p.Leu2711=) c.6340C>T (p.Leu2114=) c.5890C>T (p.Leu1964=) c.5098C>T (p.Leu1700=) c.8260C>T (p.Leu2754=) | dbSNP |
8 | g.60865203T>A | CA371308010 | CHD7 | n.1440T>A n.371T>A c.*1323T>A (n.*1323T>A) c.8264T>A (p.Leu2755Gln) c.2117T>A (p.Leu706Gln) n.310T>A c.8354T>A (p.Leu2785Gln) c.8351T>A (p.Leu2784Gln) c.8132T>A (p.Leu2711Gln) c.6341T>A (p.Leu2114Gln) c.5891T>A (p.Leu1964Gln) c.5099T>A (p.Leu1700Gln) c.8261T>A (p.Leu2754Gln) | |
8 | g.60865203T>C | CA371308012 | CHD7 | n.1440T>C n.371T>C c.*1323T>C (n.*1323T>C) c.8264T>C (p.Leu2755Pro) c.2117T>C (p.Leu706Pro) n.310T>C c.8354T>C (p.Leu2785Pro) c.8351T>C (p.Leu2784Pro) c.8132T>C (p.Leu2711Pro) c.6341T>C (p.Leu2114Pro) c.5891T>C (p.Leu1964Pro) c.5099T>C (p.Leu1700Pro) c.8261T>C (p.Leu2754Pro) | gnomAD v4 |
8 | g.60865203T>G | CA371308014 | CHD7 | n.1440T>G n.371T>G c.*1323T>G (n.*1323T>G) c.8264T>G (p.Leu2755Arg) c.2117T>G (p.Leu706Arg) n.310T>G c.8354T>G (p.Leu2785Arg) c.8351T>G (p.Leu2784Arg) c.8132T>G (p.Leu2711Arg) c.6341T>G (p.Leu2114Arg) c.5891T>G (p.Leu1964Arg) c.5099T>G (p.Leu1700Arg) c.8261T>G (p.Leu2754Arg) | |
8 | g.60865204G>A | CA461105882 | CHD7 | n.1441G>A n.372G>A c.*1324G>A (n.*1324G>A) c.8265G>A (p.Leu2755=) c.2118G>A (p.Leu706=) n.311G>A c.8355G>A (p.Leu2785=) c.8352G>A (p.Leu2784=) c.8133G>A (p.Leu2711=) c.6342G>A (p.Leu2114=) c.5892G>A (p.Leu1964=) c.5100G>A (p.Leu1700=) c.8262G>A (p.Leu2754=) | |
8 | g.60865204G>C | CA461105883 | CHD7 | n.1441G>C n.372G>C c.*1324G>C (n.*1324G>C) c.8265G>C (p.Leu2755=) c.2118G>C (p.Leu706=) n.311G>C c.8355G>C (p.Leu2785=) c.8352G>C (p.Leu2784=) c.8133G>C (p.Leu2711=) c.6342G>C (p.Leu2114=) c.5892G>C (p.Leu1964=) c.5100G>C (p.Leu1700=) c.8262G>C (p.Leu2754=) | |
8 | g.60865204G>T | CA461105881 | CHD7 | n.1441G>T n.372G>T c.*1324G>T (n.*1324G>T) c.8265G>T (p.Leu2755=) c.2118G>T (p.Leu706=) n.311G>T c.8355G>T (p.Leu2785=) c.8352G>T (p.Leu2784=) c.8133G>T (p.Leu2711=) c.6342G>T (p.Leu2114=) c.5892G>T (p.Leu1964=) c.5100G>T (p.Leu1700=) c.8262G>T (p.Leu2754=) | |
8 | g.60865205A>C | CA371308020 | CHD7 | n.1442A>C n.373A>C c.*1325A>C (n.*1325A>C) c.8266A>C (p.Thr2756Pro) c.2119A>C (p.Thr707Pro) n.312A>C c.8356A>C (p.Thr2786Pro) c.8353A>C (p.Thr2785Pro) c.8134A>C (p.Thr2712Pro) c.6343A>C (p.Thr2115Pro) c.5893A>C (p.Thr1965Pro) c.5101A>C (p.Thr1701Pro) c.8263A>C (p.Thr2755Pro) | |
8 | g.60865205A>G | CA371308018 | CHD7 | n.1442A>G n.373A>G c.*1325A>G (n.*1325A>G) c.8266A>G (p.Thr2756Ala) c.2119A>G (p.Thr707Ala) n.312A>G c.8356A>G (p.Thr2786Ala) c.8353A>G (p.Thr2785Ala) c.8134A>G (p.Thr2712Ala) c.6343A>G (p.Thr2115Ala) c.5893A>G (p.Thr1965Ala) c.5101A>G (p.Thr1701Ala) c.8263A>G (p.Thr2755Ala) | |
8 | g.60865205A>T | CA371308016 | CHD7 | n.1442A>T n.373A>T c.*1325A>T (n.*1325A>T) c.8266A>T (p.Thr2756Ser) c.2119A>T (p.Thr707Ser) n.312A>T c.8356A>T (p.Thr2786Ser) c.8353A>T (p.Thr2785Ser) c.8134A>T (p.Thr2712Ser) c.6343A>T (p.Thr2115Ser) c.5893A>T (p.Thr1965Ser) c.5101A>T (p.Thr1701Ser) c.8263A>T (p.Thr2755Ser) | |
8 | g.60865206del | CA2695203180 | CHD7 | n.1443del n.374del c.*1326del (n.*1326del) c.8267del (p.Thr2756ArgfsTer?) c.2120del (p.Thr707ArgfsTer?) n.313del c.8357del (p.Thr2786ArgfsTer?) c.8354del (p.Thr2785ArgfsTer?) c.8135del (p.Thr2712ArgfsTer?) c.6344del (p.Thr2115ArgfsTer?) c.5894del (p.Thr1965ArgfsTer?) c.5102del (p.Thr1701ArgfsTer?) c.8264del (p.Thr2755ArgfsTer?) | |
8 | g.60865206C>A | CA371308022 | CHD7 | n.1443C>A n.374C>A c.*1326C>A (n.*1326C>A) c.8267C>A (p.Thr2756Lys) c.2120C>A (p.Thr707Lys) n.313C>A c.8357C>A (p.Thr2786Lys) c.8354C>A (p.Thr2785Lys) c.8135C>A (p.Thr2712Lys) c.6344C>A (p.Thr2115Lys) c.5894C>A (p.Thr1965Lys) c.5102C>A (p.Thr1701Lys) c.8264C>A (p.Thr2755Lys) | gnomAD v4 |
8 | g.60865206C= | CA1788129426 | CHD7 | n.1443C= n.374C= c.*1326C= (n.*1326C=) c.8267C= (p.Thr2756=) c.2120C= (p.Thr707=) n.313C= c.8357C= (p.Thr2786=) c.8354C= (p.Thr2785=) c.8135C= (p.Thr2712=) c.6344C= (p.Thr2115=) c.5894C= (p.Thr1965=) c.5102C= (p.Thr1701=) c.8264C= (p.Thr2755=) | |
8 | g.60865206C>G | CA371308023 | CHD7 | n.1443C>G n.374C>G c.*1326C>G (n.*1326C>G) c.8267C>G (p.Thr2756Arg) c.2120C>G (p.Thr707Arg) n.313C>G c.8357C>G (p.Thr2786Arg) c.8354C>G (p.Thr2785Arg) c.8135C>G (p.Thr2712Arg) c.6344C>G (p.Thr2115Arg) c.5894C>G (p.Thr1965Arg) c.5102C>G (p.Thr1701Arg) c.8264C>G (p.Thr2755Arg) | |
8 | g.60865206C>T | CA4760977 | CHD7 | n.1443C>T n.374C>T c.*1326C>T (n.*1326C>T) c.8267C>T (p.Thr2756Met) c.2120C>T (p.Thr707Met) n.313C>T c.8357C>T (p.Thr2786Met) c.8354C>T (p.Thr2785Met) c.8135C>T (p.Thr2712Met) c.6344C>T (p.Thr2115Met) c.5894C>T (p.Thr1965Met) c.5102C>T (p.Thr1701Met) c.8264C>T (p.Thr2755Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865207G>A | CA461105887 | CHD7 | n.1444G>A n.375G>A c.*1327G>A (n.*1327G>A) c.8268G>A (p.Thr2756=) c.2121G>A (p.Thr707=) n.314G>A c.8358G>A (p.Thr2786=) c.8355G>A (p.Thr2785=) c.8136G>A (p.Thr2712=) c.6345G>A (p.Thr2115=) c.5895G>A (p.Thr1965=) c.5103G>A (p.Thr1701=) c.8265G>A (p.Thr2755=) | dbSNP gnomAD v4 COSMIC |
8 | g.60865207G>C | CA461105888 | CHD7 | n.1444G>C n.375G>C c.*1327G>C (n.*1327G>C) c.8268G>C (p.Thr2756=) c.2121G>C (p.Thr707=) n.314G>C c.8358G>C (p.Thr2786=) c.8355G>C (p.Thr2785=) c.8136G>C (p.Thr2712=) c.6345G>C (p.Thr2115=) c.5895G>C (p.Thr1965=) c.5103G>C (p.Thr1701=) c.8265G>C (p.Thr2755=) | |
8 | g.60865207G= | CA1788129429 | CHD7 | n.1444G= n.375G= c.*1327G= (n.*1327G=) c.8268G= (p.Thr2756=) c.2121G= (p.Thr707=) n.314G= c.8358G= (p.Thr2786=) c.8355G= (p.Thr2785=) c.8136G= (p.Thr2712=) c.6345G= (p.Thr2115=) c.5895G= (p.Thr1965=) c.5103G= (p.Thr1701=) c.8265G= (p.Thr2755=) | |
8 | g.60865207G>T | CA461105889 | CHD7 | n.1444G>T n.375G>T c.*1327G>T (n.*1327G>T) c.8268G>T (p.Thr2756=) c.2121G>T (p.Thr707=) n.314G>T c.8358G>T (p.Thr2786=) c.8355G>T (p.Thr2785=) c.8136G>T (p.Thr2712=) c.6345G>T (p.Thr2115=) c.5895G>T (p.Thr1965=) c.5103G>T (p.Thr1701=) c.8265G>T (p.Thr2755=) | |
8 | g.60865208A= | CA1788129432 | CHD7 | n.1445A= n.376A= c.*1328A= (n.*1328A=) c.8269A= (p.Ser2757=) c.2122A= (p.Ser708=) n.315A= c.8359A= (p.Ser2787=) c.8356A= (p.Ser2786=) c.8137A= (p.Ser2713=) c.6346A= (p.Ser2116=) c.5896A= (p.Ser1966=) c.5104A= (p.Ser1702=) c.8266A= (p.Ser2756=) | |
8 | g.60865208A>C | CA4760978 | CHD7 | n.1445A>C n.376A>C c.*1328A>C (n.*1328A>C) c.8269A>C (p.Ser2757Arg) c.2122A>C (p.Ser708Arg) n.315A>C c.8359A>C (p.Ser2787Arg) c.8356A>C (p.Ser2786Arg) c.8137A>C (p.Ser2713Arg) c.6346A>C (p.Ser2116Arg) c.5896A>C (p.Ser1966Arg) c.5104A>C (p.Ser1702Arg) c.8266A>C (p.Ser2756Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865208A>G | CA371308028 | CHD7 | n.1445A>G n.376A>G c.*1328A>G (n.*1328A>G) c.8269A>G (p.Ser2757Gly) c.2122A>G (p.Ser708Gly) n.315A>G c.8359A>G (p.Ser2787Gly) c.8356A>G (p.Ser2786Gly) c.8137A>G (p.Ser2713Gly) c.6346A>G (p.Ser2116Gly) c.5896A>G (p.Ser1966Gly) c.5104A>G (p.Ser1702Gly) c.8266A>G (p.Ser2756Gly) | |
8 | g.60865208A>T | CA371308030 | CHD7 | n.1445A>T n.376A>T c.*1328A>T (n.*1328A>T) c.8269A>T (p.Ser2757Cys) c.2122A>T (p.Ser708Cys) n.315A>T c.8359A>T (p.Ser2787Cys) c.8356A>T (p.Ser2786Cys) c.8137A>T (p.Ser2713Cys) c.6346A>T (p.Ser2116Cys) c.5896A>T (p.Ser1966Cys) c.5104A>T (p.Ser1702Cys) c.8266A>T (p.Ser2756Cys) | |
8 | g.60865209G>A | CA371308035 | CHD7 | n.1446G>A n.377G>A c.*1329G>A (n.*1329G>A) c.8270G>A (p.Ser2757Asn) c.2123G>A (p.Ser708Asn) n.316G>A c.8360G>A (p.Ser2787Asn) c.8357G>A (p.Ser2786Asn) c.8138G>A (p.Ser2713Asn) c.6347G>A (p.Ser2116Asn) c.5897G>A (p.Ser1966Asn) c.5105G>A (p.Ser1702Asn) c.8267G>A (p.Ser2756Asn) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865209G>C | CA371308033 | CHD7 | n.1446G>C n.377G>C c.*1329G>C (n.*1329G>C) c.8270G>C (p.Ser2757Thr) c.2123G>C (p.Ser708Thr) n.316G>C c.8360G>C (p.Ser2787Thr) c.8357G>C (p.Ser2786Thr) c.8138G>C (p.Ser2713Thr) c.6347G>C (p.Ser2116Thr) c.5897G>C (p.Ser1966Thr) c.5105G>C (p.Ser1702Thr) c.8267G>C (p.Ser2756Thr) | |
8 | g.60865209G= | CA1788129438 | CHD7 | n.1446G= n.377G= c.*1329G= (n.*1329G=) c.8270G= (p.Ser2757=) c.2123G= (p.Ser708=) n.316G= c.8360G= (p.Ser2787=) c.8357G= (p.Ser2786=) c.8138G= (p.Ser2713=) c.6347G= (p.Ser2116=) c.5897G= (p.Ser1966=) c.5105G= (p.Ser1702=) c.8267G= (p.Ser2756=) | |
8 | g.60865209G>T | CA371308034 | CHD7 | n.1446G>T n.377G>T c.*1329G>T (n.*1329G>T) c.8270G>T (p.Ser2757Ile) c.2123G>T (p.Ser708Ile) n.316G>T c.8360G>T (p.Ser2787Ile) c.8357G>T (p.Ser2786Ile) c.8138G>T (p.Ser2713Ile) c.6347G>T (p.Ser2116Ile) c.5897G>T (p.Ser1966Ile) c.5105G>T (p.Ser1702Ile) c.8267G>T (p.Ser2756Ile) | ClinVar |
8 | g.60865210C>A | CA371308038 | CHD7 | n.1447C>A n.378C>A c.*1330C>A (n.*1330C>A) c.8271C>A (p.Ser2757Arg) c.2124C>A (p.Ser708Arg) n.317C>A c.8361C>A (p.Ser2787Arg) c.8358C>A (p.Ser2786Arg) c.8139C>A (p.Ser2713Arg) c.6348C>A (p.Ser2116Arg) c.5898C>A (p.Ser1966Arg) c.5106C>A (p.Ser1702Arg) c.8268C>A (p.Ser2756Arg) | |
8 | g.60865210C>G | CA371308040 | CHD7 | n.1447C>G n.378C>G c.*1330C>G (n.*1330C>G) c.8271C>G (p.Ser2757Arg) c.2124C>G (p.Ser708Arg) n.317C>G c.8361C>G (p.Ser2787Arg) c.8358C>G (p.Ser2786Arg) c.8139C>G (p.Ser2713Arg) c.6348C>G (p.Ser2116Arg) c.5898C>G (p.Ser1966Arg) c.5106C>G (p.Ser1702Arg) c.8268C>G (p.Ser2756Arg) | gnomAD v4 |
8 | g.60865210C>T | CA461105890 | CHD7 | n.1447C>T n.378C>T c.*1330C>T (n.*1330C>T) c.8271C>T (p.Ser2757=) c.2124C>T (p.Ser708=) n.317C>T c.8361C>T (p.Ser2787=) c.8358C>T (p.Ser2786=) c.8139C>T (p.Ser2713=) c.6348C>T (p.Ser2116=) c.5898C>T (p.Ser1966=) c.5106C>T (p.Ser1702=) c.8268C>T (p.Ser2756=) | |
8 | g.60865211C>A | CA371308042 | CHD7 | n.1448C>A n.379C>A c.*1331C>A (n.*1331C>A) c.8272C>A (p.Leu2758Ile) c.2125C>A (p.Leu709Ile) n.318C>A c.8362C>A (p.Leu2788Ile) c.8359C>A (p.Leu2787Ile) c.8140C>A (p.Leu2714Ile) c.6349C>A (p.Leu2117Ile) c.5899C>A (p.Leu1967Ile) c.5107C>A (p.Leu1703Ile) c.8269C>A (p.Leu2757Ile) | |
8 | g.60865211C>G | CA371308044 | CHD7 | n.1448C>G n.379C>G c.*1331C>G (n.*1331C>G) c.8272C>G (p.Leu2758Val) c.2125C>G (p.Leu709Val) n.318C>G c.8362C>G (p.Leu2788Val) c.8359C>G (p.Leu2787Val) c.8140C>G (p.Leu2714Val) c.6349C>G (p.Leu2117Val) c.5899C>G (p.Leu1967Val) c.5107C>G (p.Leu1703Val) c.8269C>G (p.Leu2757Val) | |
8 | g.60865211C>T | CA371308047 | CHD7 | n.1448C>T n.379C>T c.*1331C>T (n.*1331C>T) c.8272C>T (p.Leu2758Phe) c.2125C>T (p.Leu709Phe) n.318C>T c.8362C>T (p.Leu2788Phe) c.8359C>T (p.Leu2787Phe) c.8140C>T (p.Leu2714Phe) c.6349C>T (p.Leu2117Phe) c.5899C>T (p.Leu1967Phe) c.5107C>T (p.Leu1703Phe) c.8269C>T (p.Leu2757Phe) | |
8 | g.60865212T>A | CA371308050 | CHD7 | n.1449T>A n.380T>A c.*1332T>A (n.*1332T>A) c.8273T>A (p.Leu2758His) c.2126T>A (p.Leu709His) n.319T>A c.8363T>A (p.Leu2788His) c.8360T>A (p.Leu2787His) c.8141T>A (p.Leu2714His) c.6350T>A (p.Leu2117His) c.5900T>A (p.Leu1967His) c.5108T>A (p.Leu1703His) c.8270T>A (p.Leu2757His) | |
8 | g.60865212T>C | CA371308054 | CHD7 | n.1449T>C n.380T>C c.*1332T>C (n.*1332T>C) c.8273T>C (p.Leu2758Pro) c.2126T>C (p.Leu709Pro) n.319T>C c.8363T>C (p.Leu2788Pro) c.8360T>C (p.Leu2787Pro) c.8141T>C (p.Leu2714Pro) c.6350T>C (p.Leu2117Pro) c.5900T>C (p.Leu1967Pro) c.5108T>C (p.Leu1703Pro) c.8270T>C (p.Leu2757Pro) | COSMIC |
8 | g.60865212T>G | CA371308052 | CHD7 | n.1449T>G n.380T>G c.*1332T>G (n.*1332T>G) c.8273T>G (p.Leu2758Arg) c.2126T>G (p.Leu709Arg) n.319T>G c.8363T>G (p.Leu2788Arg) c.8360T>G (p.Leu2787Arg) c.8141T>G (p.Leu2714Arg) c.6350T>G (p.Leu2117Arg) c.5900T>G (p.Leu1967Arg) c.5108T>G (p.Leu1703Arg) c.8270T>G (p.Leu2757Arg) | |
8 | g.60865213T>A | CA461105744 | CHD7 | n.1450T>A n.381T>A c.*1333T>A (n.*1333T>A) c.8274T>A (p.Leu2758=) c.2127T>A (p.Leu709=) n.320T>A c.8364T>A (p.Leu2788=) c.8361T>A (p.Leu2787=) c.8142T>A (p.Leu2714=) c.6351T>A (p.Leu2117=) c.5901T>A (p.Leu1967=) c.5109T>A (p.Leu1703=) c.8271T>A (p.Leu2757=) | |
8 | g.60865213T>C | CA177329262 | CHD7 | n.1450T>C n.381T>C c.*1333T>C (n.*1333T>C) c.8274T>C (p.Leu2758=) c.2127T>C (p.Leu709=) n.320T>C c.8364T>C (p.Leu2788=) c.8361T>C (p.Leu2787=) c.8142T>C (p.Leu2714=) c.6351T>C (p.Leu2117=) c.5901T>C (p.Leu1967=) c.5109T>C (p.Leu1703=) c.8271T>C (p.Leu2757=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865213T>G | CA461105747 | CHD7 | n.1450T>G n.381T>G c.*1333T>G (n.*1333T>G) c.8274T>G (p.Leu2758=) c.2127T>G (p.Leu709=) n.320T>G c.8364T>G (p.Leu2788=) c.8361T>G (p.Leu2787=) c.8142T>G (p.Leu2714=) c.6351T>G (p.Leu2117=) c.5901T>G (p.Leu1967=) c.5109T>G (p.Leu1703=) c.8271T>G (p.Leu2757=) | |
8 | g.60865213T= | CA1788129454 | CHD7 | n.1450T= n.381T= c.*1333T= (n.*1333T=) c.8274T= (p.Leu2758=) c.2127T= (p.Leu709=) n.320T= c.8364T= (p.Leu2788=) c.8361T= (p.Leu2787=) c.8142T= (p.Leu2714=) c.6351T= (p.Leu2117=) c.5901T= (p.Leu1967=) c.5109T= (p.Leu1703=) c.8271T= (p.Leu2757=) | |
8 | g.60865213_60865222delinsTCAGAATCTC | CA1788129450 | CHD7 | n.1450_1459delinsTCAGAATCTC n.381_390delinsTCAGAATCTC c.*1333_*1342delinsTCAGAATCTC (n.*1333_*1342delinsTCAGAATCTC) c.8274_8283delinsTCAGAATCTC (p.Leu2758=) c.2127_2136delinsTCAGAATCTC (p.Leu709=) n.320_329delinsTCAGAATCTC c.8364_8373delinsTCAGAATCTC (p.Leu2788=) c.8361_8370delinsTCAGAATCTC (p.Leu2787=) c.8142_8151delinsTCAGAATCTC (p.Leu2714=) c.6351_6360delinsTCAGAATCTC (p.Leu2117=) c.5901_5910delinsTCAGAATCTC (p.Leu1967=) c.5109_5118delinsTCAGAATCTC (p.Leu1703=) c.8271_8280delinsTCAGAATCTC (p.Leu2757=) | |
8 | g.60865214C>A | CA371308058 | CHD7 | n.1451C>A n.382C>A c.*1334C>A (n.*1334C>A) c.8275C>A (p.Gln2759Lys) c.2128C>A (p.Gln710Lys) n.321C>A c.8365C>A (p.Gln2789Lys) c.8362C>A (p.Gln2788Lys) c.8143C>A (p.Gln2715Lys) c.6352C>A (p.Gln2118Lys) c.5902C>A (p.Gln1968Lys) c.5110C>A (p.Gln1704Lys) c.8272C>A (p.Gln2758Lys) | |
8 | g.60865214C>G | CA371308059 | CHD7 | n.1451C>G n.382C>G c.*1334C>G (n.*1334C>G) c.8275C>G (p.Gln2759Glu) c.2128C>G (p.Gln710Glu) n.321C>G c.8365C>G (p.Gln2789Glu) c.8362C>G (p.Gln2788Glu) c.8143C>G (p.Gln2715Glu) c.6352C>G (p.Gln2118Glu) c.5902C>G (p.Gln1968Glu) c.5110C>G (p.Gln1704Glu) c.8272C>G (p.Gln2758Glu) | |
8 | g.60865214C>T | CA371308060 | CHD7 | n.1451C>T n.382C>T c.*1334C>T (n.*1334C>T) c.8275C>T (p.Gln2759Ter) c.2128C>T (p.Gln710Ter) n.321C>T c.8365C>T (p.Gln2789Ter) c.8362C>T (p.Gln2788Ter) c.8143C>T (p.Gln2715Ter) c.6352C>T (p.Gln2118Ter) c.5902C>T (p.Gln1968Ter) c.5110C>T (p.Gln1704Ter) c.8272C>T (p.Gln2758Ter) | gnomAD v4 |
8 | g.60865226_60865234dup | CA4760979 | CHD7 | n.1463_1471dup n.394_402dup c.*1346_*1354dup (n.*1346_*1354dup) c.8287_8295dup (p.Gln2765_Ser2766insAsnLeuGln) c.2140_2148dup (p.Gln716_Ser717insAsnLeuGln) n.333_341dup c.8377_8385dup (p.Gln2795_Ser2796insAsnLeuGln) c.8374_8382dup (p.Gln2794_Ser2795insAsnLeuGln) c.8155_8163dup (p.Gln2721_Ser2722insAsnLeuGln) c.6364_6372dup (p.Gln2124_Ser2125insAsnLeuGln) c.5914_5922dup (p.Gln1974_Ser1975insAsnLeuGln) c.5122_5130dup (p.Gln1710_Ser1711insAsnLeuGln) c.8284_8292dup (p.Gln2764_Ser2765insAsnLeuGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865226_60865234del | CA4760980 | CHD7 | n.1463_1471del n.394_402del c.*1346_*1354del (n.*1346_*1354del) c.8287_8295del (p.Asn2763_Gln2765del) c.2140_2148del (p.Asn714_Gln716del) n.333_341del c.8377_8385del (p.Asn2793_Gln2795del) c.8374_8382del (p.Asn2792_Gln2794del) c.8155_8163del (p.Asn2719_Gln2721del) c.6364_6372del (p.Asn2122_Gln2124del) c.5914_5922del (p.Asn1972_Gln1974del) c.5122_5130del (p.Asn1708_Gln1710del) c.8284_8292del (p.Asn2762_Gln2764del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865215A= | CA1788129477 | CHD7 | n.1452A= n.383A= c.*1335A= (n.*1335A=) c.8276A= (p.Gln2759=) c.2129A= (p.Gln710=) n.322A= c.8366A= (p.Gln2789=) c.8363A= (p.Gln2788=) c.8144A= (p.Gln2715=) c.6353A= (p.Gln2118=) c.5903A= (p.Gln1968=) c.5111A= (p.Gln1704=) c.8273A= (p.Gln2758=) | |
8 | g.60865215A>C | CA371308061 | CHD7 | n.1452A>C n.383A>C c.*1335A>C (n.*1335A>C) c.8276A>C (p.Gln2759Pro) c.2129A>C (p.Gln710Pro) n.322A>C c.8366A>C (p.Gln2789Pro) c.8363A>C (p.Gln2788Pro) c.8144A>C (p.Gln2715Pro) c.6353A>C (p.Gln2118Pro) c.5903A>C (p.Gln1968Pro) c.5111A>C (p.Gln1704Pro) c.8273A>C (p.Gln2758Pro) | dbSNP |
8 | g.60865215A>G | CA371308062 | CHD7 | n.1452A>G n.383A>G c.*1335A>G (n.*1335A>G) c.8276A>G (p.Gln2759Arg) c.2129A>G (p.Gln710Arg) n.322A>G c.8366A>G (p.Gln2789Arg) c.8363A>G (p.Gln2788Arg) c.8144A>G (p.Gln2715Arg) c.6353A>G (p.Gln2118Arg) c.5903A>G (p.Gln1968Arg) c.5111A>G (p.Gln1704Arg) c.8273A>G (p.Gln2758Arg) | ClinVar dbSNP gnomAD v4 |
8 | g.60865215A>T | CA371308063 | CHD7 | n.1452A>T n.383A>T c.*1335A>T (n.*1335A>T) c.8276A>T (p.Gln2759Leu) c.2129A>T (p.Gln710Leu) n.322A>T c.8366A>T (p.Gln2789Leu) c.8363A>T (p.Gln2788Leu) c.8144A>T (p.Gln2715Leu) c.6353A>T (p.Gln2118Leu) c.5903A>T (p.Gln1968Leu) c.5111A>T (p.Gln1704Leu) c.8273A>T (p.Gln2758Leu) | |
8 | g.60865216G>A | CA461105757 | CHD7 | n.1453G>A n.384G>A c.*1336G>A (n.*1336G>A) c.8277G>A (p.Gln2759=) c.2130G>A (p.Gln710=) n.323G>A c.8367G>A (p.Gln2789=) c.8364G>A (p.Gln2788=) c.8145G>A (p.Gln2715=) c.6354G>A (p.Gln2118=) c.5904G>A (p.Gln1968=) c.5112G>A (p.Gln1704=) c.8274G>A (p.Gln2758=) | gnomAD v4 |
8 | g.60865216G>C | CA4760981 | CHD7 | n.1453G>C n.384G>C c.*1336G>C (n.*1336G>C) c.8277G>C (p.Gln2759His) c.2130G>C (p.Gln710His) n.323G>C c.8367G>C (p.Gln2789His) c.8364G>C (p.Gln2788His) c.8145G>C (p.Gln2715His) c.6354G>C (p.Gln2118His) c.5904G>C (p.Gln1968His) c.5112G>C (p.Gln1704His) c.8274G>C (p.Gln2758His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865216G= | CA1788129489 | CHD7 | n.1453G= n.384G= c.*1336G= (n.*1336G=) c.8277G= (p.Gln2759=) c.2130G= (p.Gln710=) n.323G= c.8367G= (p.Gln2789=) c.8364G= (p.Gln2788=) c.8145G= (p.Gln2715=) c.6354G= (p.Gln2118=) c.5904G= (p.Gln1968=) c.5112G= (p.Gln1704=) c.8274G= (p.Gln2758=) | |
8 | g.60865216G>T | CA371308064 | CHD7 | n.1453G>T n.384G>T c.*1336G>T (n.*1336G>T) c.8277G>T (p.Gln2759His) c.2130G>T (p.Gln710His) n.323G>T c.8367G>T (p.Gln2789His) c.8364G>T (p.Gln2788His) c.8145G>T (p.Gln2715His) c.6354G>T (p.Gln2118His) c.5904G>T (p.Gln1968His) c.5112G>T (p.Gln1704His) c.8274G>T (p.Gln2758His) | |
8 | g.60865217A= | CA1788129502 | CHD7 | n.1454A= n.385A= c.*1337A= (n.*1337A=) c.8278A= (p.Asn2760=) c.2131A= (p.Asn711=) n.324A= c.8368A= (p.Asn2790=) c.8365A= (p.Asn2789=) c.8146A= (p.Asn2716=) c.6355A= (p.Asn2119=) c.5905A= (p.Asn1969=) c.5113A= (p.Asn1705=) c.8275A= (p.Asn2759=) | |
8 | g.60865217A>C | CA371308067 | CHD7 | n.1454A>C n.385A>C c.*1337A>C (n.*1337A>C) c.8278A>C (p.Asn2760His) c.2131A>C (p.Asn711His) n.324A>C c.8368A>C (p.Asn2790His) c.8365A>C (p.Asn2789His) c.8146A>C (p.Asn2716His) c.6355A>C (p.Asn2119His) c.5905A>C (p.Asn1969His) c.5113A>C (p.Asn1705His) c.8275A>C (p.Asn2759His) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865217A>G | CA371308066 | CHD7 | n.1454A>G n.385A>G c.*1337A>G (n.*1337A>G) c.8278A>G (p.Asn2760Asp) c.2131A>G (p.Asn711Asp) n.324A>G c.8368A>G (p.Asn2790Asp) c.8365A>G (p.Asn2789Asp) c.8146A>G (p.Asn2716Asp) c.6355A>G (p.Asn2119Asp) c.5905A>G (p.Asn1969Asp) c.5113A>G (p.Asn1705Asp) c.8275A>G (p.Asn2759Asp) | |
8 | g.60865217A>T | CA371308065 | CHD7 | n.1454A>T n.385A>T c.*1337A>T (n.*1337A>T) c.8278A>T (p.Asn2760Tyr) c.2131A>T (p.Asn711Tyr) n.324A>T c.8368A>T (p.Asn2790Tyr) c.8365A>T (p.Asn2789Tyr) c.8146A>T (p.Asn2716Tyr) c.6355A>T (p.Asn2119Tyr) c.5905A>T (p.Asn1969Tyr) c.5113A>T (p.Asn1705Tyr) c.8275A>T (p.Asn2759Tyr) | |
8 | g.60865218del | CA2695203181 | CHD7 | n.1455del n.386del c.*1338del (n.*1338del) c.8279del (p.Asn2760IlefsTer?) c.2132del (p.Asn711IlefsTer?) n.325del c.8369del (p.Asn2790IlefsTer?) c.8366del (p.Asn2789IlefsTer?) c.8147del (p.Asn2716IlefsTer?) c.6356del (p.Asn2119IlefsTer?) c.5906del (p.Asn1969IlefsTer?) c.5114del (p.Asn1705IlefsTer?) c.8276del (p.Asn2759IlefsTer?) | |
8 | g.60865218A>C | CA371308068 | CHD7 | n.1455A>C n.386A>C c.*1338A>C (n.*1338A>C) c.8279A>C (p.Asn2760Thr) c.2132A>C (p.Asn711Thr) n.325A>C c.8369A>C (p.Asn2790Thr) c.8366A>C (p.Asn2789Thr) c.8147A>C (p.Asn2716Thr) c.6356A>C (p.Asn2119Thr) c.5906A>C (p.Asn1969Thr) c.5114A>C (p.Asn1705Thr) c.8276A>C (p.Asn2759Thr) | |
8 | g.60865218A>G | CA371308069 | CHD7 | n.1455A>G n.386A>G c.*1338A>G (n.*1338A>G) c.8279A>G (p.Asn2760Ser) c.2132A>G (p.Asn711Ser) n.325A>G c.8369A>G (p.Asn2790Ser) c.8366A>G (p.Asn2789Ser) c.8147A>G (p.Asn2716Ser) c.6356A>G (p.Asn2119Ser) c.5906A>G (p.Asn1969Ser) c.5114A>G (p.Asn1705Ser) c.8276A>G (p.Asn2759Ser) | |
8 | g.60865218A>T | CA371308070 | CHD7 | n.1455A>T n.386A>T c.*1338A>T (n.*1338A>T) c.8279A>T (p.Asn2760Ile) c.2132A>T (p.Asn711Ile) n.325A>T c.8369A>T (p.Asn2790Ile) c.8366A>T (p.Asn2789Ile) c.8147A>T (p.Asn2716Ile) c.6356A>T (p.Asn2119Ile) c.5906A>T (p.Asn1969Ile) c.5114A>T (p.Asn1705Ile) c.8276A>T (p.Asn2759Ile) | |
8 | g.60865219T>A | CA371308071 | CHD7 | n.1456T>A n.387T>A c.*1339T>A (n.*1339T>A) c.8280T>A (p.Asn2760Lys) c.2133T>A (p.Asn711Lys) n.326T>A c.8370T>A (p.Asn2790Lys) c.8367T>A (p.Asn2789Lys) c.8148T>A (p.Asn2716Lys) c.6357T>A (p.Asn2119Lys) c.5907T>A (p.Asn1969Lys) c.5115T>A (p.Asn1705Lys) c.8277T>A (p.Asn2759Lys) | |
8 | g.60865219T>C | CA461105773 | CHD7 | n.1456T>C n.387T>C c.*1339T>C (n.*1339T>C) c.8280T>C (p.Asn2760=) c.2133T>C (p.Asn711=) n.326T>C c.8370T>C (p.Asn2790=) c.8367T>C (p.Asn2789=) c.8148T>C (p.Asn2716=) c.6357T>C (p.Asn2119=) c.5907T>C (p.Asn1969=) c.5115T>C (p.Asn1705=) c.8277T>C (p.Asn2759=) | |
8 | g.60865219T>G | CA371308072 | CHD7 | n.1456T>G n.387T>G c.*1339T>G (n.*1339T>G) c.8280T>G (p.Asn2760Lys) c.2133T>G (p.Asn711Lys) n.326T>G c.8370T>G (p.Asn2790Lys) c.8367T>G (p.Asn2789Lys) c.8148T>G (p.Asn2716Lys) c.6357T>G (p.Asn2119Lys) c.5907T>G (p.Asn1969Lys) c.5115T>G (p.Asn1705Lys) c.8277T>G (p.Asn2759Lys) | |
8 | g.60865220C>A | CA371308077 | CHD7 | n.1457C>A n.388C>A c.*1340C>A (n.*1340C>A) c.8281C>A (p.Leu2761Ile) c.2134C>A (p.Leu712Ile) n.327C>A c.8371C>A (p.Leu2791Ile) c.8368C>A (p.Leu2790Ile) c.8149C>A (p.Leu2717Ile) c.6358C>A (p.Leu2120Ile) c.5908C>A (p.Leu1970Ile) c.5116C>A (p.Leu1706Ile) c.8278C>A (p.Leu2760Ile) | |
8 | g.60865220C= | CA1788129514 | CHD7 | n.1457C= n.388C= c.*1340C= (n.*1340C=) c.8281C= (p.Leu2761=) c.2134C= (p.Leu712=) n.327C= c.8371C= (p.Leu2791=) c.8368C= (p.Leu2790=) c.8149C= (p.Leu2717=) c.6358C= (p.Leu2120=) c.5908C= (p.Leu1970=) c.5116C= (p.Leu1706=) c.8278C= (p.Leu2760=) | |
8 | g.60865220C>G | CA371308074 | CHD7 | n.1457C>G n.388C>G c.*1340C>G (n.*1340C>G) c.8281C>G (p.Leu2761Val) c.2134C>G (p.Leu712Val) n.327C>G c.8371C>G (p.Leu2791Val) c.8368C>G (p.Leu2790Val) c.8149C>G (p.Leu2717Val) c.6358C>G (p.Leu2120Val) c.5908C>G (p.Leu1970Val) c.5116C>G (p.Leu1706Val) c.8278C>G (p.Leu2760Val) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865220C>T | CA371308073 | CHD7 | n.1457C>T n.388C>T c.*1340C>T (n.*1340C>T) c.8281C>T (p.Leu2761Phe) c.2134C>T (p.Leu712Phe) n.327C>T c.8371C>T (p.Leu2791Phe) c.8368C>T (p.Leu2790Phe) c.8149C>T (p.Leu2717Phe) c.6358C>T (p.Leu2120Phe) c.5908C>T (p.Leu1970Phe) c.5116C>T (p.Leu1706Phe) c.8278C>T (p.Leu2760Phe) | dbSNP |
8 | g.60865221T>A | CA371308078 | CHD7 | n.1458T>A n.389T>A c.*1341T>A (n.*1341T>A) c.8282T>A (p.Leu2761His) c.2135T>A (p.Leu712His) n.328T>A c.8372T>A (p.Leu2791His) c.8369T>A (p.Leu2790His) c.8150T>A (p.Leu2717His) c.6359T>A (p.Leu2120His) c.5909T>A (p.Leu1970His) c.5117T>A (p.Leu1706His) c.8279T>A (p.Leu2760His) | |
8 | g.60865221T>C | CA371308081 | CHD7 | n.1458T>C n.389T>C c.*1341T>C (n.*1341T>C) c.8282T>C (p.Leu2761Pro) c.2135T>C (p.Leu712Pro) n.328T>C c.8372T>C (p.Leu2791Pro) c.8369T>C (p.Leu2790Pro) c.8150T>C (p.Leu2717Pro) c.6359T>C (p.Leu2120Pro) c.5909T>C (p.Leu1970Pro) c.5117T>C (p.Leu1706Pro) c.8279T>C (p.Leu2760Pro) | |
8 | g.60865221T>G | CA371308083 | CHD7 | n.1458T>G n.389T>G c.*1341T>G (n.*1341T>G) c.8282T>G (p.Leu2761Arg) c.2135T>G (p.Leu712Arg) n.328T>G c.8372T>G (p.Leu2791Arg) c.8369T>G (p.Leu2790Arg) c.8150T>G (p.Leu2717Arg) c.6359T>G (p.Leu2120Arg) c.5909T>G (p.Leu1970Arg) c.5117T>G (p.Leu1706Arg) c.8279T>G (p.Leu2760Arg) | |
8 | g.60865222C>A | CA461105779 | CHD7 | n.1459C>A n.390C>A c.*1342C>A (n.*1342C>A) c.8283C>A (p.Leu2761=) c.2136C>A (p.Leu712=) n.329C>A c.8373C>A (p.Leu2791=) c.8370C>A (p.Leu2790=) c.8151C>A (p.Leu2717=) c.6360C>A (p.Leu2120=) c.5910C>A (p.Leu1970=) c.5118C>A (p.Leu1706=) c.8280C>A (p.Leu2760=) | gnomAD v4 |
8 | g.60865222C>G | CA461105782 | CHD7 | n.1459C>G n.390C>G c.*1342C>G (n.*1342C>G) c.8283C>G (p.Leu2761=) c.2136C>G (p.Leu712=) n.329C>G c.8373C>G (p.Leu2791=) c.8370C>G (p.Leu2790=) c.8151C>G (p.Leu2717=) c.6360C>G (p.Leu2120=) c.5910C>G (p.Leu1970=) c.5118C>G (p.Leu1706=) c.8280C>G (p.Leu2760=) | gnomAD v4 |
8 | g.60865222C>T | CA461105785 | CHD7 | n.1459C>T n.390C>T c.*1342C>T (n.*1342C>T) c.8283C>T (p.Leu2761=) c.2136C>T (p.Leu712=) n.329C>T c.8373C>T (p.Leu2791=) c.8370C>T (p.Leu2790=) c.8151C>T (p.Leu2717=) c.6360C>T (p.Leu2120=) c.5910C>T (p.Leu1970=) c.5118C>T (p.Leu1706=) c.8280C>T (p.Leu2760=) | ClinVar |
8 | g.60865223C>A | CA371308086 | CHD7 | n.1460C>A n.391C>A c.*1343C>A (n.*1343C>A) c.8284C>A (p.Gln2762Lys) c.2137C>A (p.Gln713Lys) n.330C>A c.8374C>A (p.Gln2792Lys) c.8371C>A (p.Gln2791Lys) c.8152C>A (p.Gln2718Lys) c.6361C>A (p.Gln2121Lys) c.5911C>A (p.Gln1971Lys) c.5119C>A (p.Gln1707Lys) c.8281C>A (p.Gln2761Lys) | |
8 | g.60865223C= | CA1788129522 | CHD7 | n.1460C= n.391C= c.*1343C= (n.*1343C=) c.8284C= (p.Gln2762=) c.2137C= (p.Gln713=) n.330C= c.8374C= (p.Gln2792=) c.8371C= (p.Gln2791=) c.8152C= (p.Gln2718=) c.6361C= (p.Gln2121=) c.5911C= (p.Gln1971=) c.5119C= (p.Gln1707=) c.8281C= (p.Gln2761=) | |
8 | g.60865223C>G | CA371308088 | CHD7 | n.1460C>G n.391C>G c.*1343C>G (n.*1343C>G) c.8284C>G (p.Gln2762Glu) c.2137C>G (p.Gln713Glu) n.330C>G c.8374C>G (p.Gln2792Glu) c.8371C>G (p.Gln2791Glu) c.8152C>G (p.Gln2718Glu) c.6361C>G (p.Gln2121Glu) c.5911C>G (p.Gln1971Glu) c.5119C>G (p.Gln1707Glu) c.8281C>G (p.Gln2761Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865223C>T | CA371308090 | CHD7 | n.1460C>T n.391C>T c.*1343C>T (n.*1343C>T) c.8284C>T (p.Gln2762Ter) c.2137C>T (p.Gln713Ter) n.330C>T c.8374C>T (p.Gln2792Ter) c.8371C>T (p.Gln2791Ter) c.8152C>T (p.Gln2718Ter) c.6361C>T (p.Gln2121Ter) c.5911C>T (p.Gln1971Ter) c.5119C>T (p.Gln1707Ter) c.8281C>T (p.Gln2761Ter) | |
8 | g.60865224A>C | CA371308097 | CHD7 | n.1461A>C n.392A>C c.*1344A>C (n.*1344A>C) c.8285A>C (p.Gln2762Pro) c.2138A>C (p.Gln713Pro) n.331A>C c.8375A>C (p.Gln2792Pro) c.8372A>C (p.Gln2791Pro) c.8153A>C (p.Gln2718Pro) c.6362A>C (p.Gln2121Pro) c.5912A>C (p.Gln1971Pro) c.5120A>C (p.Gln1707Pro) c.8282A>C (p.Gln2761Pro) | |
8 | g.60865224A>G | CA371308093 | CHD7 | n.1461A>G n.392A>G c.*1344A>G (n.*1344A>G) c.8285A>G (p.Gln2762Arg) c.2138A>G (p.Gln713Arg) n.331A>G c.8375A>G (p.Gln2792Arg) c.8372A>G (p.Gln2791Arg) c.8153A>G (p.Gln2718Arg) c.6362A>G (p.Gln2121Arg) c.5912A>G (p.Gln1971Arg) c.5120A>G (p.Gln1707Arg) c.8282A>G (p.Gln2761Arg) | gnomAD v4 |
8 | g.60865224A>T | CA371308096 | CHD7 | n.1461A>T n.392A>T c.*1344A>T (n.*1344A>T) c.8285A>T (p.Gln2762Leu) c.2138A>T (p.Gln713Leu) n.331A>T c.8375A>T (p.Gln2792Leu) c.8372A>T (p.Gln2791Leu) c.8153A>T (p.Gln2718Leu) c.6362A>T (p.Gln2121Leu) c.5912A>T (p.Gln1971Leu) c.5120A>T (p.Gln1707Leu) c.8282A>T (p.Gln2761Leu) | |
8 | g.60865225G>A | CA461105789 | CHD7 | n.1462G>A n.393G>A c.*1345G>A (n.*1345G>A) c.8286G>A (p.Gln2762=) c.2139G>A (p.Gln713=) n.332G>A c.8376G>A (p.Gln2792=) c.8373G>A (p.Gln2791=) c.8154G>A (p.Gln2718=) c.6363G>A (p.Gln2121=) c.5913G>A (p.Gln1971=) c.5121G>A (p.Gln1707=) c.8283G>A (p.Gln2761=) | |
8 | g.60865225G>C | CA4760982 | CHD7 | n.1462G>C n.393G>C c.*1345G>C (n.*1345G>C) c.8286G>C (p.Gln2762His) c.2139G>C (p.Gln713His) n.332G>C c.8376G>C (p.Gln2792His) c.8373G>C (p.Gln2791His) c.8154G>C (p.Gln2718His) c.6363G>C (p.Gln2121His) c.5913G>C (p.Gln1971His) c.5121G>C (p.Gln1707His) c.8283G>C (p.Gln2761His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865225G= | CA1788129535 | CHD7 | n.1462G= n.393G= c.*1345G= (n.*1345G=) c.8286G= (p.Gln2762=) c.2139G= (p.Gln713=) n.332G= c.8376G= (p.Gln2792=) c.8373G= (p.Gln2791=) c.8154G= (p.Gln2718=) c.6363G= (p.Gln2121=) c.5913G= (p.Gln1971=) c.5121G= (p.Gln1707=) c.8283G= (p.Gln2761=) | |
8 | g.60865225G>T | CA371308099 | CHD7 | n.1462G>T n.393G>T c.*1345G>T (n.*1345G>T) c.8286G>T (p.Gln2762His) c.2139G>T (p.Gln713His) n.332G>T c.8376G>T (p.Gln2792His) c.8373G>T (p.Gln2791His) c.8154G>T (p.Gln2718His) c.6363G>T (p.Gln2121His) c.5913G>T (p.Gln1971His) c.5121G>T (p.Gln1707His) c.8283G>T (p.Gln2761His) | ClinVar dbSNP gnomAD v4 |
8 | g.60865226A>C | CA371308102 | CHD7 | n.1463A>C n.394A>C c.*1346A>C (n.*1346A>C) c.8287A>C (p.Asn2763His) c.2140A>C (p.Asn714His) n.333A>C c.8377A>C (p.Asn2793His) c.8374A>C (p.Asn2792His) c.8155A>C (p.Asn2719His) c.6364A>C (p.Asn2122His) c.5914A>C (p.Asn1972His) c.5122A>C (p.Asn1708His) c.8284A>C (p.Asn2762His) | |
8 | g.60865226A>G | CA371308103 | CHD7 | n.1463A>G n.394A>G c.*1346A>G (n.*1346A>G) c.8287A>G (p.Asn2763Asp) c.2140A>G (p.Asn714Asp) n.333A>G c.8377A>G (p.Asn2793Asp) c.8374A>G (p.Asn2792Asp) c.8155A>G (p.Asn2719Asp) c.6364A>G (p.Asn2122Asp) c.5914A>G (p.Asn1972Asp) c.5122A>G (p.Asn1708Asp) c.8284A>G (p.Asn2762Asp) | |
8 | g.60865226A>T | CA371308106 | CHD7 | n.1463A>T n.394A>T c.*1346A>T (n.*1346A>T) c.8287A>T (p.Asn2763Tyr) c.2140A>T (p.Asn714Tyr) n.333A>T c.8377A>T (p.Asn2793Tyr) c.8374A>T (p.Asn2792Tyr) c.8155A>T (p.Asn2719Tyr) c.6364A>T (p.Asn2122Tyr) c.5914A>T (p.Asn1972Tyr) c.5122A>T (p.Asn1708Tyr) c.8284A>T (p.Asn2762Tyr) | |
8 | g.60865227A>C | CA371308108 | CHD7 | n.1464A>C n.395A>C c.*1347A>C (n.*1347A>C) c.8288A>C (p.Asn2763Thr) c.2141A>C (p.Asn714Thr) n.334A>C c.8378A>C (p.Asn2793Thr) c.8375A>C (p.Asn2792Thr) c.8156A>C (p.Asn2719Thr) c.6365A>C (p.Asn2122Thr) c.5915A>C (p.Asn1972Thr) c.5123A>C (p.Asn1708Thr) c.8285A>C (p.Asn2762Thr) | |
8 | g.60865227A>G | CA371308111 | CHD7 | n.1464A>G n.395A>G c.*1347A>G (n.*1347A>G) c.8288A>G (p.Asn2763Ser) c.2141A>G (p.Asn714Ser) n.334A>G c.8378A>G (p.Asn2793Ser) c.8375A>G (p.Asn2792Ser) c.8156A>G (p.Asn2719Ser) c.6365A>G (p.Asn2122Ser) c.5915A>G (p.Asn1972Ser) c.5123A>G (p.Asn1708Ser) c.8285A>G (p.Asn2762Ser) | |
8 | g.60865227A>T | CA371308113 | CHD7 | n.1464A>T n.395A>T c.*1347A>T (n.*1347A>T) c.8288A>T (p.Asn2763Ile) c.2141A>T (p.Asn714Ile) n.334A>T c.8378A>T (p.Asn2793Ile) c.8375A>T (p.Asn2792Ile) c.8156A>T (p.Asn2719Ile) c.6365A>T (p.Asn2122Ile) c.5915A>T (p.Asn1972Ile) c.5123A>T (p.Asn1708Ile) c.8285A>T (p.Asn2762Ile) | |
8 | g.60865228T>A | CA371308115 | CHD7 | n.1465T>A n.396T>A c.*1348T>A (n.*1348T>A) c.8289T>A (p.Asn2763Lys) c.2142T>A (p.Asn714Lys) n.335T>A c.8379T>A (p.Asn2793Lys) c.8376T>A (p.Asn2792Lys) c.8157T>A (p.Asn2719Lys) c.6366T>A (p.Asn2122Lys) c.5916T>A (p.Asn1972Lys) c.5124T>A (p.Asn1708Lys) c.8286T>A (p.Asn2762Lys) | |
8 | g.60865228T>C | CA461105796 | CHD7 | n.1465T>C n.396T>C c.*1348T>C (n.*1348T>C) c.8289T>C (p.Asn2763=) c.2142T>C (p.Asn714=) n.335T>C c.8379T>C (p.Asn2793=) c.8376T>C (p.Asn2792=) c.8157T>C (p.Asn2719=) c.6366T>C (p.Asn2122=) c.5916T>C (p.Asn1972=) c.5124T>C (p.Asn1708=) c.8286T>C (p.Asn2762=) | gnomAD v4 |
8 | g.60865228T>G | CA371308117 | CHD7 | n.1465T>G n.396T>G c.*1348T>G (n.*1348T>G) c.8289T>G (p.Asn2763Lys) c.2142T>G (p.Asn714Lys) n.335T>G c.8379T>G (p.Asn2793Lys) c.8376T>G (p.Asn2792Lys) c.8157T>G (p.Asn2719Lys) c.6366T>G (p.Asn2122Lys) c.5916T>G (p.Asn1972Lys) c.5124T>G (p.Asn1708Lys) c.8286T>G (p.Asn2762Lys) | |
8 | g.60865229C>A | CA371308120 | CHD7 | n.1466C>A n.397C>A c.*1349C>A (n.*1349C>A) c.8290C>A (p.Leu2764Ile) c.2143C>A (p.Leu715Ile) n.336C>A c.8380C>A (p.Leu2794Ile) c.8377C>A (p.Leu2793Ile) c.8158C>A (p.Leu2720Ile) c.6367C>A (p.Leu2123Ile) c.5917C>A (p.Leu1973Ile) c.5125C>A (p.Leu1709Ile) c.8287C>A (p.Leu2763Ile) | |
8 | g.60865229C>G | CA371308122 | CHD7 | n.1466C>G n.397C>G c.*1349C>G (n.*1349C>G) c.8290C>G (p.Leu2764Val) c.2143C>G (p.Leu715Val) n.336C>G c.8380C>G (p.Leu2794Val) c.8377C>G (p.Leu2793Val) c.8158C>G (p.Leu2720Val) c.6367C>G (p.Leu2123Val) c.5917C>G (p.Leu1973Val) c.5125C>G (p.Leu1709Val) c.8287C>G (p.Leu2763Val) | |
8 | g.60865229C>T | CA371308123 | CHD7 | n.1466C>T n.397C>T c.*1349C>T (n.*1349C>T) c.8290C>T (p.Leu2764Phe) c.2143C>T (p.Leu715Phe) n.336C>T c.8380C>T (p.Leu2794Phe) c.8377C>T (p.Leu2793Phe) c.8158C>T (p.Leu2720Phe) c.6367C>T (p.Leu2123Phe) c.5917C>T (p.Leu1973Phe) c.5125C>T (p.Leu1709Phe) c.8287C>T (p.Leu2763Phe) | |
8 | g.60865230T>A | CA371308126 | CHD7 | n.1467T>A n.398T>A c.*1350T>A (n.*1350T>A) c.8291T>A (p.Leu2764His) c.2144T>A (p.Leu715His) n.337T>A c.8381T>A (p.Leu2794His) c.8378T>A (p.Leu2793His) c.8159T>A (p.Leu2720His) c.6368T>A (p.Leu2123His) c.5918T>A (p.Leu1973His) c.5126T>A (p.Leu1709His) c.8288T>A (p.Leu2763His) | |
8 | g.60865230T>C | CA371308129 | CHD7 | n.1467T>C n.398T>C c.*1350T>C (n.*1350T>C) c.8291T>C (p.Leu2764Pro) c.2144T>C (p.Leu715Pro) n.337T>C c.8381T>C (p.Leu2794Pro) c.8378T>C (p.Leu2793Pro) c.8159T>C (p.Leu2720Pro) c.6368T>C (p.Leu2123Pro) c.5918T>C (p.Leu1973Pro) c.5126T>C (p.Leu1709Pro) c.8288T>C (p.Leu2763Pro) | |
8 | g.60865230T>G | CA371308127 | CHD7 | n.1467T>G n.398T>G c.*1350T>G (n.*1350T>G) c.8291T>G (p.Leu2764Arg) c.2144T>G (p.Leu715Arg) n.337T>G c.8381T>G (p.Leu2794Arg) c.8378T>G (p.Leu2793Arg) c.8159T>G (p.Leu2720Arg) c.6368T>G (p.Leu2123Arg) c.5918T>G (p.Leu1973Arg) c.5126T>G (p.Leu1709Arg) c.8288T>G (p.Leu2763Arg) | |
8 | g.60865231C>A | CA461105803 | CHD7 | n.1468C>A n.399C>A c.*1351C>A (n.*1351C>A) c.8292C>A (p.Leu2764=) c.2145C>A (p.Leu715=) n.338C>A c.8382C>A (p.Leu2794=) c.8379C>A (p.Leu2793=) c.8160C>A (p.Leu2720=) c.6369C>A (p.Leu2123=) c.5919C>A (p.Leu1973=) c.5127C>A (p.Leu1709=) c.8289C>A (p.Leu2763=) | |
8 | g.60865231C= | CA1788129536 | CHD7 | n.1468C= n.399C= c.*1351C= (n.*1351C=) c.8292C= (p.Leu2764=) c.2145C= (p.Leu715=) n.338C= c.8382C= (p.Leu2794=) c.8379C= (p.Leu2793=) c.8160C= (p.Leu2720=) c.6369C= (p.Leu2123=) c.5919C= (p.Leu1973=) c.5127C= (p.Leu1709=) c.8289C= (p.Leu2763=) | |
8 | g.60865231C>G | CA461105805 | CHD7 | n.1468C>G n.399C>G c.*1351C>G (n.*1351C>G) c.8292C>G (p.Leu2764=) c.2145C>G (p.Leu715=) n.338C>G c.8382C>G (p.Leu2794=) c.8379C>G (p.Leu2793=) c.8160C>G (p.Leu2720=) c.6369C>G (p.Leu2123=) c.5919C>G (p.Leu1973=) c.5127C>G (p.Leu1709=) c.8289C>G (p.Leu2763=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865231C>T | CA461105804 | CHD7 | n.1468C>T n.399C>T c.*1351C>T (n.*1351C>T) c.8292C>T (p.Leu2764=) c.2145C>T (p.Leu715=) n.338C>T c.8382C>T (p.Leu2794=) c.8379C>T (p.Leu2793=) c.8160C>T (p.Leu2720=) c.6369C>T (p.Leu2123=) c.5919C>T (p.Leu1973=) c.5127C>T (p.Leu1709=) c.8289C>T (p.Leu2763=) | gnomAD v4 |
8 | g.60865232C>A | CA371308132 | CHD7 | n.1469C>A n.400C>A c.*1352C>A (n.*1352C>A) c.8293C>A (p.Gln2765Lys) c.2146C>A (p.Gln716Lys) n.339C>A c.8383C>A (p.Gln2795Lys) c.8380C>A (p.Gln2794Lys) c.8161C>A (p.Gln2721Lys) c.6370C>A (p.Gln2124Lys) c.5920C>A (p.Gln1974Lys) c.5128C>A (p.Gln1710Lys) c.8290C>A (p.Gln2764Lys) | |
8 | g.60865232C>G | CA371308134 | CHD7 | n.1469C>G n.400C>G c.*1352C>G (n.*1352C>G) c.8293C>G (p.Gln2765Glu) c.2146C>G (p.Gln716Glu) n.339C>G c.8383C>G (p.Gln2795Glu) c.8380C>G (p.Gln2794Glu) c.8161C>G (p.Gln2721Glu) c.6370C>G (p.Gln2124Glu) c.5920C>G (p.Gln1974Glu) c.5128C>G (p.Gln1710Glu) c.8290C>G (p.Gln2764Glu) | |
8 | g.60865232C>T | CA371308136 | CHD7 | n.1469C>T n.400C>T c.*1352C>T (n.*1352C>T) c.8293C>T (p.Gln2765Ter) c.2146C>T (p.Gln716Ter) n.339C>T c.8383C>T (p.Gln2795Ter) c.8380C>T (p.Gln2794Ter) c.8161C>T (p.Gln2721Ter) c.6370C>T (p.Gln2124Ter) c.5920C>T (p.Gln1974Ter) c.5128C>T (p.Gln1710Ter) c.8290C>T (p.Gln2764Ter) | |
8 | g.60865233A= | CA1788129543 | CHD7 | n.1470A= n.401A= c.*1353A= (n.*1353A=) c.8294A= (p.Gln2765=) c.2147A= (p.Gln716=) n.340A= c.8384A= (p.Gln2795=) c.8381A= (p.Gln2794=) c.8162A= (p.Gln2721=) c.6371A= (p.Gln2124=) c.5921A= (p.Gln1974=) c.5129A= (p.Gln1710=) c.8291A= (p.Gln2764=) | |
8 | g.60865233A>C | CA371308138 | CHD7 | n.1470A>C n.401A>C c.*1353A>C (n.*1353A>C) c.8294A>C (p.Gln2765Pro) c.2147A>C (p.Gln716Pro) n.340A>C c.8384A>C (p.Gln2795Pro) c.8381A>C (p.Gln2794Pro) c.8162A>C (p.Gln2721Pro) c.6371A>C (p.Gln2124Pro) c.5921A>C (p.Gln1974Pro) c.5129A>C (p.Gln1710Pro) c.8291A>C (p.Gln2764Pro) | |
8 | g.60865233A>G | CA371308140 | CHD7 | n.1470A>G n.401A>G c.*1353A>G (n.*1353A>G) c.8294A>G (p.Gln2765Arg) c.2147A>G (p.Gln716Arg) n.340A>G c.8384A>G (p.Gln2795Arg) c.8381A>G (p.Gln2794Arg) c.8162A>G (p.Gln2721Arg) c.6371A>G (p.Gln2124Arg) c.5921A>G (p.Gln1974Arg) c.5129A>G (p.Gln1710Arg) c.8291A>G (p.Gln2764Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865233A>T | CA371308142 | CHD7 | n.1470A>T n.401A>T c.*1353A>T (n.*1353A>T) c.8294A>T (p.Gln2765Leu) c.2147A>T (p.Gln716Leu) n.340A>T c.8384A>T (p.Gln2795Leu) c.8381A>T (p.Gln2794Leu) c.8162A>T (p.Gln2721Leu) c.6371A>T (p.Gln2124Leu) c.5921A>T (p.Gln1974Leu) c.5129A>T (p.Gln1710Leu) c.8291A>T (p.Gln2764Leu) | ClinVar dbSNP COSMIC |
8 | g.60865234G>A | CA461105815 | CHD7 | n.1471G>A n.402G>A c.*1354G>A (n.*1354G>A) c.8295G>A (p.Gln2765=) c.2148G>A (p.Gln716=) n.341G>A c.8385G>A (p.Gln2795=) c.8382G>A (p.Gln2794=) c.8163G>A (p.Gln2721=) c.6372G>A (p.Gln2124=) c.5922G>A (p.Gln1974=) c.5130G>A (p.Gln1710=) c.8292G>A (p.Gln2764=) | |
8 | g.60865234G>C | CA4760983 | CHD7 | n.1471G>C n.402G>C c.*1354G>C (n.*1354G>C) c.8295G>C (p.Gln2765His) c.2148G>C (p.Gln716His) n.341G>C c.8385G>C (p.Gln2795His) c.8382G>C (p.Gln2794His) c.8163G>C (p.Gln2721His) c.6372G>C (p.Gln2124His) c.5922G>C (p.Gln1974His) c.5130G>C (p.Gln1710His) c.8292G>C (p.Gln2764His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865234G= | CA1788129550 | CHD7 | n.1471G= n.402G= c.*1354G= (n.*1354G=) c.8295G= (p.Gln2765=) c.2148G= (p.Gln716=) n.341G= c.8385G= (p.Gln2795=) c.8382G= (p.Gln2794=) c.8163G= (p.Gln2721=) c.6372G= (p.Gln2124=) c.5922G= (p.Gln1974=) c.5130G= (p.Gln1710=) c.8292G= (p.Gln2764=) | |
8 | g.60865234G>T | CA371308145 | CHD7 | n.1471G>T n.402G>T c.*1354G>T (n.*1354G>T) c.8295G>T (p.Gln2765His) c.2148G>T (p.Gln716His) n.341G>T c.8385G>T (p.Gln2795His) c.8382G>T (p.Gln2794His) c.8163G>T (p.Gln2721His) c.6372G>T (p.Gln2124His) c.5922G>T (p.Gln1974His) c.5130G>T (p.Gln1710His) c.8292G>T (p.Gln2764His) | ClinVar dbSNP gnomAD v2 |
8 | g.60865235T>A | CA371308147 | CHD7 | n.1472T>A n.403T>A c.*1355T>A (n.*1355T>A) c.8296T>A (p.Ser2766Thr) c.2149T>A (p.Ser717Thr) n.342T>A c.8386T>A (p.Ser2796Thr) c.8383T>A (p.Ser2795Thr) c.8164T>A (p.Ser2722Thr) c.6373T>A (p.Ser2125Thr) c.5923T>A (p.Ser1975Thr) c.5131T>A (p.Ser1711Thr) c.8293T>A (p.Ser2765Thr) | |
8 | g.60865235T>C | CA371308149 | CHD7 | n.1472T>C n.403T>C c.*1355T>C (n.*1355T>C) c.8296T>C (p.Ser2766Pro) c.2149T>C (p.Ser717Pro) n.342T>C c.8386T>C (p.Ser2796Pro) c.8383T>C (p.Ser2795Pro) c.8164T>C (p.Ser2722Pro) c.6373T>C (p.Ser2125Pro) c.5923T>C (p.Ser1975Pro) c.5131T>C (p.Ser1711Pro) c.8293T>C (p.Ser2765Pro) | |
8 | g.60865235T>G | CA371308151 | CHD7 | n.1472T>G n.403T>G c.*1355T>G (n.*1355T>G) c.8296T>G (p.Ser2766Ala) c.2149T>G (p.Ser717Ala) n.342T>G c.8386T>G (p.Ser2796Ala) c.8383T>G (p.Ser2795Ala) c.8164T>G (p.Ser2722Ala) c.6373T>G (p.Ser2125Ala) c.5923T>G (p.Ser1975Ala) c.5131T>G (p.Ser1711Ala) c.8293T>G (p.Ser2765Ala) | |
8 | g.60865236C>A | CA371308158 | CHD7 | n.1473C>A n.404C>A c.*1356C>A (n.*1356C>A) c.8297C>A (p.Ser2766Ter) c.2150C>A (p.Ser717Ter) n.343C>A c.8387C>A (p.Ser2796Ter) c.8384C>A (p.Ser2795Ter) c.8165C>A (p.Ser2722Ter) c.6374C>A (p.Ser2125Ter) c.5924C>A (p.Ser1975Ter) c.5132C>A (p.Ser1711Ter) c.8294C>A (p.Ser2765Ter) | gnomAD v4 |
8 | g.60865236C= | CA1788129565 | CHD7 | n.1473C= n.404C= c.*1356C= (n.*1356C=) c.8297C= (p.Ser2766=) c.2150C= (p.Ser717=) n.343C= c.8387C= (p.Ser2796=) c.8384C= (p.Ser2795=) c.8165C= (p.Ser2722=) c.6374C= (p.Ser2125=) c.5924C= (p.Ser1975=) c.5132C= (p.Ser1711=) c.8294C= (p.Ser2765=) | |
8 | g.60865236C>G | CA371308156 | CHD7 | n.1473C>G n.404C>G c.*1356C>G (n.*1356C>G) c.8297C>G (p.Ser2766Trp) c.2150C>G (p.Ser717Trp) n.343C>G c.8387C>G (p.Ser2796Trp) c.8384C>G (p.Ser2795Trp) c.8165C>G (p.Ser2722Trp) c.6374C>G (p.Ser2125Trp) c.5924C>G (p.Ser1975Trp) c.5132C>G (p.Ser1711Trp) c.8294C>G (p.Ser2765Trp) | |
8 | g.60865236C>T | CA371308154 | CHD7 | n.1473C>T n.404C>T c.*1356C>T (n.*1356C>T) c.8297C>T (p.Ser2766Leu) c.2150C>T (p.Ser717Leu) n.343C>T c.8387C>T (p.Ser2796Leu) c.8384C>T (p.Ser2795Leu) c.8165C>T (p.Ser2722Leu) c.6374C>T (p.Ser2125Leu) c.5924C>T (p.Ser1975Leu) c.5132C>T (p.Ser1711Leu) c.8294C>T (p.Ser2765Leu) | dbSNP gnomAD v4 COSMIC |
8 | g.60865237G>A | CA4760984 | CHD7 | n.1474G>A n.405G>A c.*1357G>A (n.*1357G>A) c.8298G>A (p.Ser2766=) c.2151G>A (p.Ser717=) n.344G>A c.8388G>A (p.Ser2796=) c.8385G>A (p.Ser2795=) c.8166G>A (p.Ser2722=) c.6375G>A (p.Ser2125=) c.5925G>A (p.Ser1975=) c.5133G>A (p.Ser1711=) c.8295G>A (p.Ser2765=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865237G>C | CA461105821 | CHD7 | n.1474G>C n.405G>C c.*1357G>C (n.*1357G>C) c.8298G>C (p.Ser2766=) c.2151G>C (p.Ser717=) n.344G>C c.8388G>C (p.Ser2796=) c.8385G>C (p.Ser2795=) c.8166G>C (p.Ser2722=) c.6375G>C (p.Ser2125=) c.5925G>C (p.Ser1975=) c.5133G>C (p.Ser1711=) c.8295G>C (p.Ser2765=) | |
8 | g.60865237G= | CA1788129575 | CHD7 | n.1474G= n.405G= c.*1357G= (n.*1357G=) c.8298G= (p.Ser2766=) c.2151G= (p.Ser717=) n.344G= c.8388G= (p.Ser2796=) c.8385G= (p.Ser2795=) c.8166G= (p.Ser2722=) c.6375G= (p.Ser2125=) c.5925G= (p.Ser1975=) c.5133G= (p.Ser1711=) c.8295G= (p.Ser2765=) | |
8 | g.60865237G>T | CA461105822 | CHD7 | n.1474G>T n.405G>T c.*1357G>T (n.*1357G>T) c.8298G>T (p.Ser2766=) c.2151G>T (p.Ser717=) n.344G>T c.8388G>T (p.Ser2796=) c.8385G>T (p.Ser2795=) c.8166G>T (p.Ser2722=) c.6375G>T (p.Ser2125=) c.5925G>T (p.Ser1975=) c.5133G>T (p.Ser1711=) c.8295G>T (p.Ser2765=) | gnomAD v4 |
8 | g.60865238C>A | CA371308166 | CHD7 | n.1475C>A n.406C>A c.*1358C>A (n.*1358C>A) c.8299C>A (p.Leu2767Ile) c.2152C>A (p.Leu718Ile) n.345C>A c.8389C>A (p.Leu2797Ile) c.8386C>A (p.Leu2796Ile) c.8167C>A (p.Leu2723Ile) c.6376C>A (p.Leu2126Ile) c.5926C>A (p.Leu1976Ile) c.5134C>A (p.Leu1712Ile) c.8296C>A (p.Leu2766Ile) | |
8 | g.60865238C= | CA1788129583 | CHD7 | n.1475C= n.406C= c.*1358C= (n.*1358C=) c.8299C= (p.Leu2767=) c.2152C= (p.Leu718=) n.345C= c.8389C= (p.Leu2797=) c.8386C= (p.Leu2796=) c.8167C= (p.Leu2723=) c.6376C= (p.Leu2126=) c.5926C= (p.Leu1976=) c.5134C= (p.Leu1712=) c.8296C= (p.Leu2766=) | |
8 | g.60865238C>G | CA371308169 | CHD7 | n.1475C>G n.406C>G c.*1358C>G (n.*1358C>G) c.8299C>G (p.Leu2767Val) c.2152C>G (p.Leu718Val) n.345C>G c.8389C>G (p.Leu2797Val) c.8386C>G (p.Leu2796Val) c.8167C>G (p.Leu2723Val) c.6376C>G (p.Leu2126Val) c.5926C>G (p.Leu1976Val) c.5134C>G (p.Leu1712Val) c.8296C>G (p.Leu2766Val) | |
8 | g.60865238C>T | CA371308173 | CHD7 | n.1475C>T n.406C>T c.*1358C>T (n.*1358C>T) c.8299C>T (p.Leu2767Phe) c.2152C>T (p.Leu718Phe) n.345C>T c.8389C>T (p.Leu2797Phe) c.8386C>T (p.Leu2796Phe) c.8167C>T (p.Leu2723Phe) c.6376C>T (p.Leu2126Phe) c.5926C>T (p.Leu1976Phe) c.5134C>T (p.Leu1712Phe) c.8296C>T (p.Leu2766Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865239T>A | CA371308177 | CHD7 | n.1476T>A n.407T>A c.*1359T>A (n.*1359T>A) c.8300T>A (p.Leu2767His) c.2153T>A (p.Leu718His) n.346T>A c.8390T>A (p.Leu2797His) c.8387T>A (p.Leu2796His) c.8168T>A (p.Leu2723His) c.6377T>A (p.Leu2126His) c.5927T>A (p.Leu1976His) c.5135T>A (p.Leu1712His) c.8297T>A (p.Leu2766His) | |
8 | g.60865239T>C | CA371308180 | CHD7 | n.1476T>C n.407T>C c.*1359T>C (n.*1359T>C) c.8300T>C (p.Leu2767Pro) c.2153T>C (p.Leu718Pro) n.346T>C c.8390T>C (p.Leu2797Pro) c.8387T>C (p.Leu2796Pro) c.8168T>C (p.Leu2723Pro) c.6377T>C (p.Leu2126Pro) c.5927T>C (p.Leu1976Pro) c.5135T>C (p.Leu1712Pro) c.8297T>C (p.Leu2766Pro) | |
8 | g.60865239T>G | CA371308183 | CHD7 | n.1476T>G n.407T>G c.*1359T>G (n.*1359T>G) c.8300T>G (p.Leu2767Arg) c.2153T>G (p.Leu718Arg) n.346T>G c.8390T>G (p.Leu2797Arg) c.8387T>G (p.Leu2796Arg) c.8168T>G (p.Leu2723Arg) c.6377T>G (p.Leu2126Arg) c.5927T>G (p.Leu1976Arg) c.5135T>G (p.Leu1712Arg) c.8297T>G (p.Leu2766Arg) | |
8 | g.60865240C>A | CA461105831 | CHD7 | n.1477C>A n.408C>A c.*1360C>A (n.*1360C>A) c.8301C>A (p.Leu2767=) c.2154C>A (p.Leu718=) n.347C>A c.8391C>A (p.Leu2797=) c.8388C>A (p.Leu2796=) c.8169C>A (p.Leu2723=) c.6378C>A (p.Leu2126=) c.5928C>A (p.Leu1976=) c.5136C>A (p.Leu1712=) c.8298C>A (p.Leu2766=) | gnomAD v4 |
8 | g.60865240C>G | CA461105828 | CHD7 | n.1477C>G n.408C>G c.*1360C>G (n.*1360C>G) c.8301C>G (p.Leu2767=) c.2154C>G (p.Leu718=) n.347C>G c.8391C>G (p.Leu2797=) c.8388C>G (p.Leu2796=) c.8169C>G (p.Leu2723=) c.6378C>G (p.Leu2126=) c.5928C>G (p.Leu1976=) c.5136C>G (p.Leu1712=) c.8298C>G (p.Leu2766=) | |
8 | g.60865240C>T | CA461105830 | CHD7 | n.1477C>T n.408C>T c.*1360C>T (n.*1360C>T) c.8301C>T (p.Leu2767=) c.2154C>T (p.Leu718=) n.347C>T c.8391C>T (p.Leu2797=) c.8388C>T (p.Leu2796=) c.8169C>T (p.Leu2723=) c.6378C>T (p.Leu2126=) c.5928C>T (p.Leu1976=) c.5136C>T (p.Leu1712=) c.8298C>T (p.Leu2766=) | |
8 | g.60865241dup | CA2717281383 | CHD7 | n.1478dup n.409dup c.*1361dup (n.*1361dup) c.8302dup (p.Gln2768ProfsTer?) c.2155dup (p.Gln719ProfsTer?) n.348dup c.8392dup (p.Gln2798ProfsTer?) c.8389dup (p.Gln2797ProfsTer?) c.8170dup (p.Gln2724ProfsTer?) c.6379dup (p.Gln2127ProfsTer?) c.5929dup (p.Gln1977ProfsTer?) c.5137dup (p.Gln1713ProfsTer?) c.8299dup (p.Gln2767ProfsTer?) | dbSNP |
8 | g.60865241C>A | CA371308187 | CHD7 | n.1478C>A n.409C>A c.*1361C>A (n.*1361C>A) c.8302C>A (p.Gln2768Lys) c.2155C>A (p.Gln719Lys) n.348C>A c.8392C>A (p.Gln2798Lys) c.8389C>A (p.Gln2797Lys) c.8170C>A (p.Gln2724Lys) c.6379C>A (p.Gln2127Lys) c.5929C>A (p.Gln1977Lys) c.5137C>A (p.Gln1713Lys) c.8299C>A (p.Gln2767Lys) | |
8 | g.60865241C>G | CA371308189 | CHD7 | n.1478C>G n.409C>G c.*1361C>G (n.*1361C>G) c.8302C>G (p.Gln2768Glu) c.2155C>G (p.Gln719Glu) n.348C>G c.8392C>G (p.Gln2798Glu) c.8389C>G (p.Gln2797Glu) c.8170C>G (p.Gln2724Glu) c.6379C>G (p.Gln2127Glu) c.5929C>G (p.Gln1977Glu) c.5137C>G (p.Gln1713Glu) c.8299C>G (p.Gln2767Glu) | |
8 | g.60865241C>T | CA371308193 | CHD7 | n.1478C>T n.409C>T c.*1361C>T (n.*1361C>T) c.8302C>T (p.Gln2768Ter) c.2155C>T (p.Gln719Ter) n.348C>T c.8392C>T (p.Gln2798Ter) c.8389C>T (p.Gln2797Ter) c.8170C>T (p.Gln2724Ter) c.6379C>T (p.Gln2127Ter) c.5929C>T (p.Gln1977Ter) c.5137C>T (p.Gln1713Ter) c.8299C>T (p.Gln2767Ter) | |
8 | g.60865242A>C | CA371308197 | CHD7 | n.1479A>C n.410A>C c.*1362A>C (n.*1362A>C) c.8303A>C (p.Gln2768Pro) c.2156A>C (p.Gln719Pro) n.349A>C c.8393A>C (p.Gln2798Pro) c.8390A>C (p.Gln2797Pro) c.8171A>C (p.Gln2724Pro) c.6380A>C (p.Gln2127Pro) c.5930A>C (p.Gln1977Pro) c.5138A>C (p.Gln1713Pro) c.8300A>C (p.Gln2767Pro) | |
8 | g.60865242A>G | CA371308199 | CHD7 | n.1479A>G n.410A>G c.*1362A>G (n.*1362A>G) c.8303A>G (p.Gln2768Arg) c.2156A>G (p.Gln719Arg) n.349A>G c.8393A>G (p.Gln2798Arg) c.8390A>G (p.Gln2797Arg) c.8171A>G (p.Gln2724Arg) c.6380A>G (p.Gln2127Arg) c.5930A>G (p.Gln1977Arg) c.5138A>G (p.Gln1713Arg) c.8300A>G (p.Gln2767Arg) | |
8 | g.60865242A>T | CA371308203 | CHD7 | n.1479A>T n.410A>T c.*1362A>T (n.*1362A>T) c.8303A>T (p.Gln2768Leu) c.2156A>T (p.Gln719Leu) n.349A>T c.8393A>T (p.Gln2798Leu) c.8390A>T (p.Gln2797Leu) c.8171A>T (p.Gln2724Leu) c.6380A>T (p.Gln2127Leu) c.5930A>T (p.Gln1977Leu) c.5138A>T (p.Gln1713Leu) c.8300A>T (p.Gln2767Leu) | |
8 | g.60865243G>A | CA461105834 | CHD7 | n.1480G>A n.411G>A c.*1363G>A (n.*1363G>A) c.8304G>A (p.Gln2768=) c.2157G>A (p.Gln719=) n.350G>A c.8394G>A (p.Gln2798=) c.8391G>A (p.Gln2797=) c.8172G>A (p.Gln2724=) c.6381G>A (p.Gln2127=) c.5931G>A (p.Gln1977=) c.5139G>A (p.Gln1713=) c.8301G>A (p.Gln2767=) | |
8 | g.60865243G>C | CA4760985 | CHD7 | n.1480G>C n.411G>C c.*1363G>C (n.*1363G>C) c.8304G>C (p.Gln2768His) c.2157G>C (p.Gln719His) n.350G>C c.8394G>C (p.Gln2798His) c.8391G>C (p.Gln2797His) c.8172G>C (p.Gln2724His) c.6381G>C (p.Gln2127His) c.5931G>C (p.Gln1977His) c.5139G>C (p.Gln1713His) c.8301G>C (p.Gln2767His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865243G= | CA1788129588 | CHD7 | n.1480G= n.411G= c.*1363G= (n.*1363G=) c.8304G= (p.Gln2768=) c.2157G= (p.Gln719=) n.350G= c.8394G= (p.Gln2798=) c.8391G= (p.Gln2797=) c.8172G= (p.Gln2724=) c.6381G= (p.Gln2127=) c.5931G= (p.Gln1977=) c.5139G= (p.Gln1713=) c.8301G= (p.Gln2767=) | |
8 | g.60865243G>T | CA371308210 | CHD7 | n.1480G>T n.411G>T c.*1363G>T (n.*1363G>T) c.8304G>T (p.Gln2768His) c.2157G>T (p.Gln719His) n.350G>T c.8394G>T (p.Gln2798His) c.8391G>T (p.Gln2797His) c.8172G>T (p.Gln2724His) c.6381G>T (p.Gln2127His) c.5931G>T (p.Gln1977His) c.5139G>T (p.Gln1713His) c.8301G>T (p.Gln2767His) | |
8 | g.60865245_60865248del | CA2717281425 | CHD7 | n.1482_1485del n.413_416del c.*1365_*1368del (n.*1365_*1368del) c.8306_8309del (p.Leu2769GlnfsTer29) c.2159_2162del (p.Leu720GlnfsTer29) n.352_355del c.8396_8399del (p.Leu2799GlnfsTer29) c.8393_8396del (p.Leu2798GlnfsTer29) c.8174_8177del (p.Leu2725GlnfsTer29) c.6383_6386del (p.Leu2128GlnfsTer29) c.5933_5936del (p.Leu1978GlnfsTer29) c.5141_5144del (p.Leu1714GlnfsTer29) c.8303_8306del (p.Leu2768GlnfsTer29) | dbSNP |
8 | g.60865244C>A | CA371308215 | CHD7 | n.1481C>A n.412C>A c.*1364C>A (n.*1364C>A) c.8305C>A (p.Leu2769Met) c.2158C>A (p.Leu720Met) n.351C>A c.8395C>A (p.Leu2799Met) c.8392C>A (p.Leu2798Met) c.8173C>A (p.Leu2725Met) c.6382C>A (p.Leu2128Met) c.5932C>A (p.Leu1978Met) c.5140C>A (p.Leu1714Met) c.8302C>A (p.Leu2768Met) | |
8 | g.60865244C>G | CA371308218 | CHD7 | n.1481C>G n.412C>G c.*1364C>G (n.*1364C>G) c.8305C>G (p.Leu2769Val) c.2158C>G (p.Leu720Val) n.351C>G c.8395C>G (p.Leu2799Val) c.8392C>G (p.Leu2798Val) c.8173C>G (p.Leu2725Val) c.6382C>G (p.Leu2128Val) c.5932C>G (p.Leu1978Val) c.5140C>G (p.Leu1714Val) c.8302C>G (p.Leu2768Val) | gnomAD v4 |
8 | g.60865244C>T | CA461105836 | CHD7 | n.1481C>T n.412C>T c.*1364C>T (n.*1364C>T) c.8305C>T (p.Leu2769=) c.2158C>T (p.Leu720=) n.351C>T c.8395C>T (p.Leu2799=) c.8392C>T (p.Leu2798=) c.8173C>T (p.Leu2725=) c.6382C>T (p.Leu2128=) c.5932C>T (p.Leu1978=) c.5140C>T (p.Leu1714=) c.8302C>T (p.Leu2768=) | |
8 | g.60865245T>A | CA371308221 | CHD7 | n.1482T>A n.413T>A c.*1365T>A (n.*1365T>A) c.8306T>A (p.Leu2769Gln) c.2159T>A (p.Leu720Gln) n.352T>A c.8396T>A (p.Leu2799Gln) c.8393T>A (p.Leu2798Gln) c.8174T>A (p.Leu2725Gln) c.6383T>A (p.Leu2128Gln) c.5933T>A (p.Leu1978Gln) c.5141T>A (p.Leu1714Gln) c.8303T>A (p.Leu2768Gln) | |
8 | g.60865245T>C | CA371308227 | CHD7 | n.1482T>C n.413T>C c.*1365T>C (n.*1365T>C) c.8306T>C (p.Leu2769Pro) c.2159T>C (p.Leu720Pro) n.352T>C c.8396T>C (p.Leu2799Pro) c.8393T>C (p.Leu2798Pro) c.8174T>C (p.Leu2725Pro) c.6383T>C (p.Leu2128Pro) c.5933T>C (p.Leu1978Pro) c.5141T>C (p.Leu1714Pro) c.8303T>C (p.Leu2768Pro) | |
8 | g.60865245T>G | CA371308223 | CHD7 | n.1482T>G n.413T>G c.*1365T>G (n.*1365T>G) c.8306T>G (p.Leu2769Arg) c.2159T>G (p.Leu720Arg) n.352T>G c.8396T>G (p.Leu2799Arg) c.8393T>G (p.Leu2798Arg) c.8174T>G (p.Leu2725Arg) c.6383T>G (p.Leu2128Arg) c.5933T>G (p.Leu1978Arg) c.5141T>G (p.Leu1714Arg) c.8303T>G (p.Leu2768Arg) | |
8 | g.60865246G>A | CA461105840 | CHD7 | n.1483G>A n.414G>A c.*1366G>A (n.*1366G>A) c.8307G>A (p.Leu2769=) c.2160G>A (p.Leu720=) n.353G>A c.8397G>A (p.Leu2799=) c.8394G>A (p.Leu2798=) c.8175G>A (p.Leu2725=) c.6384G>A (p.Leu2128=) c.5934G>A (p.Leu1978=) c.5142G>A (p.Leu1714=) c.8304G>A (p.Leu2768=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865246G>C | CA461105841 | CHD7 | n.1483G>C n.414G>C c.*1366G>C (n.*1366G>C) c.8307G>C (p.Leu2769=) c.2160G>C (p.Leu720=) n.353G>C c.8397G>C (p.Leu2799=) c.8394G>C (p.Leu2798=) c.8175G>C (p.Leu2725=) c.6384G>C (p.Leu2128=) c.5934G>C (p.Leu1978=) c.5142G>C (p.Leu1714=) c.8304G>C (p.Leu2768=) | |
8 | g.60865246G= | CA1788129593 | CHD7 | n.1483G= n.414G= c.*1366G= (n.*1366G=) c.8307G= (p.Leu2769=) c.2160G= (p.Leu720=) n.353G= c.8397G= (p.Leu2799=) c.8394G= (p.Leu2798=) c.8175G= (p.Leu2725=) c.6384G= (p.Leu2128=) c.5934G= (p.Leu1978=) c.5142G= (p.Leu1714=) c.8304G= (p.Leu2768=) | |
8 | g.60865246G>T | CA461105843 | CHD7 | n.1483G>T n.414G>T c.*1366G>T (n.*1366G>T) c.8307G>T (p.Leu2769=) c.2160G>T (p.Leu720=) n.353G>T c.8397G>T (p.Leu2799=) c.8394G>T (p.Leu2798=) c.8175G>T (p.Leu2725=) c.6384G>T (p.Leu2128=) c.5934G>T (p.Leu1978=) c.5142G>T (p.Leu1714=) c.8304G>T (p.Leu2768=) | |
8 | g.60865247G>A | CA4760986 | CHD7 | n.1484G>A n.415G>A c.*1367G>A (n.*1367G>A) c.8308G>A (p.Ala2770Thr) c.2161G>A (p.Ala721Thr) n.354G>A c.8398G>A (p.Ala2800Thr) c.8395G>A (p.Ala2799Thr) c.8176G>A (p.Ala2726Thr) c.6385G>A (p.Ala2129Thr) c.5935G>A (p.Ala1979Thr) c.5143G>A (p.Ala1715Thr) c.8305G>A (p.Ala2769Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865247G>C | CA371308233 | CHD7 | n.1484G>C n.415G>C c.*1367G>C (n.*1367G>C) c.8308G>C (p.Ala2770Pro) c.2161G>C (p.Ala721Pro) n.354G>C c.8398G>C (p.Ala2800Pro) c.8395G>C (p.Ala2799Pro) c.8176G>C (p.Ala2726Pro) c.6385G>C (p.Ala2129Pro) c.5935G>C (p.Ala1979Pro) c.5143G>C (p.Ala1715Pro) c.8305G>C (p.Ala2769Pro) | |
8 | g.60865247G= | CA1788129622 | CHD7 | n.1484G= n.415G= c.*1367G= (n.*1367G=) c.8308G= (p.Ala2770=) c.2161G= (p.Ala721=) n.354G= c.8398G= (p.Ala2800=) c.8395G= (p.Ala2799=) c.8176G= (p.Ala2726=) c.6385G= (p.Ala2129=) c.5935G= (p.Ala1979=) c.5143G= (p.Ala1715=) c.8305G= (p.Ala2769=) | |
8 | g.60865247G>T | CA371308232 | CHD7 | n.1484G>T n.415G>T c.*1367G>T (n.*1367G>T) c.8308G>T (p.Ala2770Ser) c.2161G>T (p.Ala721Ser) n.354G>T c.8398G>T (p.Ala2800Ser) c.8395G>T (p.Ala2799Ser) c.8176G>T (p.Ala2726Ser) c.6385G>T (p.Ala2129Ser) c.5935G>T (p.Ala1979Ser) c.5143G>T (p.Ala1715Ser) c.8305G>T (p.Ala2769Ser) | |
8 | g.60865248C>A | CA371308238 | CHD7 | n.1485C>A n.416C>A c.*1368C>A (n.*1368C>A) c.8309C>A (p.Ala2770Glu) c.2162C>A (p.Ala721Glu) n.355C>A c.8399C>A (p.Ala2800Glu) c.8396C>A (p.Ala2799Glu) c.8177C>A (p.Ala2726Glu) c.6386C>A (p.Ala2129Glu) c.5936C>A (p.Ala1979Glu) c.5144C>A (p.Ala1715Glu) c.8306C>A (p.Ala2769Glu) | gnomAD v4 |
8 | g.60865248C>G | CA371308241 | CHD7 | n.1485C>G n.416C>G c.*1368C>G (n.*1368C>G) c.8309C>G (p.Ala2770Gly) c.2162C>G (p.Ala721Gly) n.355C>G c.8399C>G (p.Ala2800Gly) c.8396C>G (p.Ala2799Gly) c.8177C>G (p.Ala2726Gly) c.6386C>G (p.Ala2129Gly) c.5936C>G (p.Ala1979Gly) c.5144C>G (p.Ala1715Gly) c.8306C>G (p.Ala2769Gly) | |
8 | g.60865248C>T | CA371308244 | CHD7 | n.1485C>T n.416C>T c.*1368C>T (n.*1368C>T) c.8309C>T (p.Ala2770Val) c.2162C>T (p.Ala721Val) n.355C>T c.8399C>T (p.Ala2800Val) c.8396C>T (p.Ala2799Val) c.8177C>T (p.Ala2726Val) c.6386C>T (p.Ala2129Val) c.5936C>T (p.Ala1979Val) c.5144C>T (p.Ala1715Val) c.8306C>T (p.Ala2769Val) | |
8 | g.60865249A= | CA1788129631 | CHD7 | n.1486A= n.417A= c.*1369A= (n.*1369A=) c.8310A= (p.Ala2770=) c.2163A= (p.Ala721=) n.356A= c.8400A= (p.Ala2800=) c.8397A= (p.Ala2799=) c.8178A= (p.Ala2726=) c.6387A= (p.Ala2129=) c.5937A= (p.Ala1979=) c.5145A= (p.Ala1715=) c.8307A= (p.Ala2769=) | |
8 | g.60865249A>C | CA461105846 | CHD7 | n.1486A>C n.417A>C c.*1369A>C (n.*1369A>C) c.8310A>C (p.Ala2770=) c.2163A>C (p.Ala721=) n.356A>C c.8400A>C (p.Ala2800=) c.8397A>C (p.Ala2799=) c.8178A>C (p.Ala2726=) c.6387A>C (p.Ala2129=) c.5937A>C (p.Ala1979=) c.5145A>C (p.Ala1715=) c.8307A>C (p.Ala2769=) | |
8 | g.60865249A>G | CA461105847 | CHD7 | n.1486A>G n.417A>G c.*1369A>G (n.*1369A>G) c.8310A>G (p.Ala2770=) c.2163A>G (p.Ala721=) n.356A>G c.8400A>G (p.Ala2800=) c.8397A>G (p.Ala2799=) c.8178A>G (p.Ala2726=) c.6387A>G (p.Ala2129=) c.5937A>G (p.Ala1979=) c.5145A>G (p.Ala1715=) c.8307A>G (p.Ala2769=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865249A>T | CA461105849 | CHD7 | n.1486A>T n.417A>T c.*1369A>T (n.*1369A>T) c.8310A>T (p.Ala2770=) c.2163A>T (p.Ala721=) n.356A>T c.8400A>T (p.Ala2800=) c.8397A>T (p.Ala2799=) c.8178A>T (p.Ala2726=) c.6387A>T (p.Ala2129=) c.5937A>T (p.Ala1979=) c.5145A>T (p.Ala1715=) c.8307A>T (p.Ala2769=) | |
8 | g.60865250G>A | CA371308249 | CHD7 | n.1487G>A n.418G>A c.*1370G>A (n.*1370G>A) c.8311G>A (p.Gly2771Ser) c.2164G>A (p.Gly722Ser) n.357G>A c.8401G>A (p.Gly2801Ser) c.8398G>A (p.Gly2800Ser) c.8179G>A (p.Gly2727Ser) c.6388G>A (p.Gly2130Ser) c.5938G>A (p.Gly1980Ser) c.5146G>A (p.Gly1716Ser) c.8308G>A (p.Gly2770Ser) | |
8 | g.60865250G>C | CA371308252 | CHD7 | n.1487G>C n.418G>C c.*1370G>C (n.*1370G>C) c.8311G>C (p.Gly2771Arg) c.2164G>C (p.Gly722Arg) n.357G>C c.8401G>C (p.Gly2801Arg) c.8398G>C (p.Gly2800Arg) c.8179G>C (p.Gly2727Arg) c.6388G>C (p.Gly2130Arg) c.5938G>C (p.Gly1980Arg) c.5146G>C (p.Gly1716Arg) c.8308G>C (p.Gly2770Arg) | |
8 | g.60865250G>T | CA371308254 | CHD7 | n.1487G>T n.418G>T c.*1370G>T (n.*1370G>T) c.8311G>T (p.Gly2771Cys) c.2164G>T (p.Gly722Cys) n.357G>T c.8401G>T (p.Gly2801Cys) c.8398G>T (p.Gly2800Cys) c.8179G>T (p.Gly2727Cys) c.6388G>T (p.Gly2130Cys) c.5938G>T (p.Gly1980Cys) c.5146G>T (p.Gly1716Cys) c.8308G>T (p.Gly2770Cys) | |
8 | g.60865251G>A | CA177329328 | CHD7 | n.1488G>A n.419G>A c.*1371G>A (n.*1371G>A) c.8312G>A (p.Gly2771Asp) c.2165G>A (p.Gly722Asp) n.358G>A c.8402G>A (p.Gly2801Asp) c.8399G>A (p.Gly2800Asp) c.8180G>A (p.Gly2727Asp) c.6389G>A (p.Gly2130Asp) c.5939G>A (p.Gly1980Asp) c.5147G>A (p.Gly1716Asp) c.8309G>A (p.Gly2770Asp) | dbSNP |
8 | g.60865251G>C | CA371308262 | CHD7 | n.1488G>C n.419G>C c.*1371G>C (n.*1371G>C) c.8312G>C (p.Gly2771Ala) c.2165G>C (p.Gly722Ala) n.358G>C c.8402G>C (p.Gly2801Ala) c.8399G>C (p.Gly2800Ala) c.8180G>C (p.Gly2727Ala) c.6389G>C (p.Gly2130Ala) c.5939G>C (p.Gly1980Ala) c.5147G>C (p.Gly1716Ala) c.8309G>C (p.Gly2770Ala) | |
8 | g.60865251G= | CA1788129643 | CHD7 | n.1488G= n.419G= c.*1371G= (n.*1371G=) c.8312G= (p.Gly2771=) c.2165G= (p.Gly722=) n.358G= c.8402G= (p.Gly2801=) c.8399G= (p.Gly2800=) c.8180G= (p.Gly2727=) c.6389G= (p.Gly2130=) c.5939G= (p.Gly1980=) c.5147G= (p.Gly1716=) c.8309G= (p.Gly2770=) | |
8 | g.60865251G>T | CA371308265 | CHD7 | n.1488G>T n.419G>T c.*1371G>T (n.*1371G>T) c.8312G>T (p.Gly2771Val) c.2165G>T (p.Gly722Val) n.358G>T c.8402G>T (p.Gly2801Val) c.8399G>T (p.Gly2800Val) c.8180G>T (p.Gly2727Val) c.6389G>T (p.Gly2130Val) c.5939G>T (p.Gly1980Val) c.5147G>T (p.Gly1716Val) c.8309G>T (p.Gly2770Val) | |
8 | g.60865252C>A | CA461105855 | CHD7 | n.1489C>A n.420C>A c.*1372C>A (n.*1372C>A) c.8313C>A (p.Gly2771=) c.2166C>A (p.Gly722=) n.359C>A c.8403C>A (p.Gly2801=) c.8400C>A (p.Gly2800=) c.8181C>A (p.Gly2727=) c.6390C>A (p.Gly2130=) c.5940C>A (p.Gly1980=) c.5148C>A (p.Gly1716=) c.8310C>A (p.Gly2770=) | gnomAD v4 |
8 | g.60865252C>G | CA461105856 | CHD7 | n.1489C>G n.420C>G c.*1372C>G (n.*1372C>G) c.8313C>G (p.Gly2771=) c.2166C>G (p.Gly722=) n.359C>G c.8403C>G (p.Gly2801=) c.8400C>G (p.Gly2800=) c.8181C>G (p.Gly2727=) c.6390C>G (p.Gly2130=) c.5940C>G (p.Gly1980=) c.5148C>G (p.Gly1716=) c.8310C>G (p.Gly2770=) | |
8 | g.60865252C>T | CA461105857 | CHD7 | n.1489C>T n.420C>T c.*1372C>T (n.*1372C>T) c.8313C>T (p.Gly2771=) c.2166C>T (p.Gly722=) n.359C>T c.8403C>T (p.Gly2801=) c.8400C>T (p.Gly2800=) c.8181C>T (p.Gly2727=) c.6390C>T (p.Gly2130=) c.5940C>T (p.Gly1980=) c.5148C>T (p.Gly1716=) c.8310C>T (p.Gly2770=) | gnomAD v4 |
8 | g.60865253C>A | CA371308274 | CHD7 | n.1490C>A n.421C>A c.*1373C>A (n.*1373C>A) c.8314C>A (p.Leu2772Ile) c.2167C>A (p.Leu723Ile) n.360C>A c.8404C>A (p.Leu2802Ile) c.8401C>A (p.Leu2801Ile) c.8182C>A (p.Leu2728Ile) c.6391C>A (p.Leu2131Ile) c.5941C>A (p.Leu1981Ile) c.5149C>A (p.Leu1717Ile) c.8311C>A (p.Leu2771Ile) | gnomAD v4 |
8 | g.60865253C= | CA1788129651 | CHD7 | n.1490C= n.421C= c.*1373C= (n.*1373C=) c.8314C= (p.Leu2772=) c.2167C= (p.Leu723=) n.360C= c.8404C= (p.Leu2802=) c.8401C= (p.Leu2801=) c.8182C= (p.Leu2728=) c.6391C= (p.Leu2131=) c.5941C= (p.Leu1981=) c.5149C= (p.Leu1717=) c.8311C= (p.Leu2771=) | |
8 | g.60865253C>G | CA371308270 | CHD7 | n.1490C>G n.421C>G c.*1373C>G (n.*1373C>G) c.8314C>G (p.Leu2772Val) c.2167C>G (p.Leu723Val) n.360C>G c.8404C>G (p.Leu2802Val) c.8401C>G (p.Leu2801Val) c.8182C>G (p.Leu2728Val) c.6391C>G (p.Leu2131Val) c.5941C>G (p.Leu1981Val) c.5149C>G (p.Leu1717Val) c.8311C>G (p.Leu2771Val) | gnomAD v4 |
8 | g.60865253C>T | CA177329329 | CHD7 | n.1490C>T n.421C>T c.*1373C>T (n.*1373C>T) c.8314C>T (p.Leu2772Phe) c.2167C>T (p.Leu723Phe) n.360C>T c.8404C>T (p.Leu2802Phe) c.8401C>T (p.Leu2801Phe) c.8182C>T (p.Leu2728Phe) c.6391C>T (p.Leu2131Phe) c.5941C>T (p.Leu1981Phe) c.5149C>T (p.Leu1717Phe) c.8311C>T (p.Leu2771Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865254T>A | CA371308278 | CHD7 | n.1491T>A n.422T>A c.*1374T>A (n.*1374T>A) c.8315T>A (p.Leu2772His) c.2168T>A (p.Leu723His) n.361T>A c.8405T>A (p.Leu2802His) c.8402T>A (p.Leu2801His) c.8183T>A (p.Leu2728His) c.6392T>A (p.Leu2131His) c.5942T>A (p.Leu1981His) c.5150T>A (p.Leu1717His) c.8312T>A (p.Leu2771His) | |
8 | g.60865254T>C | CA371308281 | CHD7 | n.1491T>C n.422T>C c.*1374T>C (n.*1374T>C) c.8315T>C (p.Leu2772Pro) c.2168T>C (p.Leu723Pro) n.361T>C c.8405T>C (p.Leu2802Pro) c.8402T>C (p.Leu2801Pro) c.8183T>C (p.Leu2728Pro) c.6392T>C (p.Leu2131Pro) c.5942T>C (p.Leu1981Pro) c.5150T>C (p.Leu1717Pro) c.8312T>C (p.Leu2771Pro) | |
8 | g.60865254T>G | CA371308285 | CHD7 | n.1491T>G n.422T>G c.*1374T>G (n.*1374T>G) c.8315T>G (p.Leu2772Arg) c.2168T>G (p.Leu723Arg) n.361T>G c.8405T>G (p.Leu2802Arg) c.8402T>G (p.Leu2801Arg) c.8183T>G (p.Leu2728Arg) c.6392T>G (p.Leu2131Arg) c.5942T>G (p.Leu1981Arg) c.5150T>G (p.Leu1717Arg) c.8312T>G (p.Leu2771Arg) | |
8 | g.60865255C>A | CA461105859 | CHD7 | n.1492C>A n.423C>A c.*1375C>A (n.*1375C>A) c.8316C>A (p.Leu2772=) c.2169C>A (p.Leu723=) n.362C>A c.8406C>A (p.Leu2802=) c.8403C>A (p.Leu2801=) c.8184C>A (p.Leu2728=) c.6393C>A (p.Leu2131=) c.5943C>A (p.Leu1981=) c.5151C>A (p.Leu1717=) c.8313C>A (p.Leu2771=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865255C= | CA1788129655 | CHD7 | n.1492C= n.423C= c.*1375C= (n.*1375C=) c.8316C= (p.Leu2772=) c.2169C= (p.Leu723=) n.362C= c.8406C= (p.Leu2802=) c.8403C= (p.Leu2801=) c.8184C= (p.Leu2728=) c.6393C= (p.Leu2131=) c.5943C= (p.Leu1981=) c.5151C= (p.Leu1717=) c.8313C= (p.Leu2771=) | |
8 | g.60865255C>G | CA461105861 | CHD7 | n.1492C>G n.423C>G c.*1375C>G (n.*1375C>G) c.8316C>G (p.Leu2772=) c.2169C>G (p.Leu723=) n.362C>G c.8406C>G (p.Leu2802=) c.8403C>G (p.Leu2801=) c.8184C>G (p.Leu2728=) c.6393C>G (p.Leu2131=) c.5943C>G (p.Leu1981=) c.5151C>G (p.Leu1717=) c.8313C>G (p.Leu2771=) | |
8 | g.60865255C>T | CA4760987 | CHD7 | n.1492C>T n.423C>T c.*1375C>T (n.*1375C>T) c.8316C>T (p.Leu2772=) c.2169C>T (p.Leu723=) n.362C>T c.8406C>T (p.Leu2802=) c.8403C>T (p.Leu2801=) c.8184C>T (p.Leu2728=) c.6393C>T (p.Leu2131=) c.5943C>T (p.Leu1981=) c.5151C>T (p.Leu1717=) c.8313C>T (p.Leu2771=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865256A= | CA1788129661 | CHD7 | n.1493A= n.424A= c.*1376A= (n.*1376A=) c.8317A= (p.Met2773=) c.2170A= (p.Met724=) n.363A= c.8407A= (p.Met2803=) c.8404A= (p.Met2802=) c.8185A= (p.Met2729=) c.6394A= (p.Met2132=) c.5944A= (p.Met1982=) c.5152A= (p.Met1718=) c.8314A= (p.Met2772=) | |
8 | g.60865256A>C | CA371308301 | CHD7 | n.1493A>C n.424A>C c.*1376A>C (n.*1376A>C) c.8317A>C (p.Met2773Leu) c.2170A>C (p.Met724Leu) n.363A>C c.8407A>C (p.Met2803Leu) c.8404A>C (p.Met2802Leu) c.8185A>C (p.Met2729Leu) c.6394A>C (p.Met2132Leu) c.5944A>C (p.Met1982Leu) c.5152A>C (p.Met1718Leu) c.8314A>C (p.Met2772Leu) | |
8 | g.60865256A>G | CA371308305 | CHD7 | n.1493A>G n.424A>G c.*1376A>G (n.*1376A>G) c.8317A>G (p.Met2773Val) c.2170A>G (p.Met724Val) n.363A>G c.8407A>G (p.Met2803Val) c.8404A>G (p.Met2802Val) c.8185A>G (p.Met2729Val) c.6394A>G (p.Met2132Val) c.5944A>G (p.Met1982Val) c.5152A>G (p.Met1718Val) c.8314A>G (p.Met2772Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865256A>T | CA371308309 | CHD7 | n.1493A>T n.424A>T c.*1376A>T (n.*1376A>T) c.8317A>T (p.Met2773Leu) c.2170A>T (p.Met724Leu) n.363A>T c.8407A>T (p.Met2803Leu) c.8404A>T (p.Met2802Leu) c.8185A>T (p.Met2729Leu) c.6394A>T (p.Met2132Leu) c.5944A>T (p.Met1982Leu) c.5152A>T (p.Met1718Leu) c.8314A>T (p.Met2772Leu) | |
8 | g.60865257T>A | CA371308315 | CHD7 | n.1494T>A n.425T>A c.*1377T>A (n.*1377T>A) c.8318T>A (p.Met2773Lys) c.2171T>A (p.Met724Lys) n.364T>A c.8408T>A (p.Met2803Lys) c.8405T>A (p.Met2802Lys) c.8186T>A (p.Met2729Lys) c.6395T>A (p.Met2132Lys) c.5945T>A (p.Met1982Lys) c.5153T>A (p.Met1718Lys) c.8315T>A (p.Met2772Lys) | |
8 | g.60865257T>C | CA371308318 | CHD7 | n.1494T>C n.425T>C c.*1377T>C (n.*1377T>C) c.8318T>C (p.Met2773Thr) c.2171T>C (p.Met724Thr) n.364T>C c.8408T>C (p.Met2803Thr) c.8405T>C (p.Met2802Thr) c.8186T>C (p.Met2729Thr) c.6395T>C (p.Met2132Thr) c.5945T>C (p.Met1982Thr) c.5153T>C (p.Met1718Thr) c.8315T>C (p.Met2772Thr) | ClinVar |
8 | g.60865257T>G | CA371308321 | CHD7 | n.1494T>G n.425T>G c.*1377T>G (n.*1377T>G) c.8318T>G (p.Met2773Arg) c.2171T>G (p.Met724Arg) n.364T>G c.8408T>G (p.Met2803Arg) c.8405T>G (p.Met2802Arg) c.8186T>G (p.Met2729Arg) c.6395T>G (p.Met2132Arg) c.5945T>G (p.Met1982Arg) c.5153T>G (p.Met1718Arg) c.8315T>G (p.Met2772Arg) | |
8 | g.60865258G>A | CA371308331 | CHD7 | n.1495G>A n.426G>A c.*1378G>A (n.*1378G>A) c.8319G>A (p.Met2773Ile) c.2172G>A (p.Met724Ile) n.365G>A c.8409G>A (p.Met2803Ile) c.8406G>A (p.Met2802Ile) c.8187G>A (p.Met2729Ile) c.6396G>A (p.Met2132Ile) c.5946G>A (p.Met1982Ile) c.5154G>A (p.Met1718Ile) c.8316G>A (p.Met2772Ile) | |
8 | g.60865258G>C | CA371308334 | CHD7 | n.1495G>C n.426G>C c.*1378G>C (n.*1378G>C) c.8319G>C (p.Met2773Ile) c.2172G>C (p.Met724Ile) n.365G>C c.8409G>C (p.Met2803Ile) c.8406G>C (p.Met2802Ile) c.8187G>C (p.Met2729Ile) c.6396G>C (p.Met2132Ile) c.5946G>C (p.Met1982Ile) c.5154G>C (p.Met1718Ile) c.8316G>C (p.Met2772Ile) | |
8 | g.60865258G>T | CA371308327 | CHD7 | n.1495G>T n.426G>T c.*1378G>T (n.*1378G>T) c.8319G>T (p.Met2773Ile) c.2172G>T (p.Met724Ile) n.365G>T c.8409G>T (p.Met2803Ile) c.8406G>T (p.Met2802Ile) c.8187G>T (p.Met2729Ile) c.6396G>T (p.Met2132Ile) c.5946G>T (p.Met1982Ile) c.5154G>T (p.Met1718Ile) c.8316G>T (p.Met2772Ile) | |
8 | g.60865259G>A | CA371308340 | CHD7 | n.1496G>A n.427G>A c.*1379G>A (n.*1379G>A) c.8320G>A (p.Gly2774Ser) c.2173G>A (p.Gly725Ser) n.366G>A c.8410G>A (p.Gly2804Ser) c.8407G>A (p.Gly2803Ser) c.8188G>A (p.Gly2730Ser) c.6397G>A (p.Gly2133Ser) c.5947G>A (p.Gly1983Ser) c.5155G>A (p.Gly1719Ser) c.8317G>A (p.Gly2773Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865259G>C | CA371308344 | CHD7 | n.1496G>C n.427G>C c.*1379G>C (n.*1379G>C) c.8320G>C (p.Gly2774Arg) c.2173G>C (p.Gly725Arg) n.366G>C c.8410G>C (p.Gly2804Arg) c.8407G>C (p.Gly2803Arg) c.8188G>C (p.Gly2730Arg) c.6397G>C (p.Gly2133Arg) c.5947G>C (p.Gly1983Arg) c.5155G>C (p.Gly1719Arg) c.8317G>C (p.Gly2773Arg) | |
8 | g.60865259G= | CA1788129666 | CHD7 | n.1496G= n.427G= c.*1379G= (n.*1379G=) c.8320G= (p.Gly2774=) c.2173G= (p.Gly725=) n.366G= c.8410G= (p.Gly2804=) c.8407G= (p.Gly2803=) c.8188G= (p.Gly2730=) c.6397G= (p.Gly2133=) c.5947G= (p.Gly1983=) c.5155G= (p.Gly1719=) c.8317G= (p.Gly2773=) | |
8 | g.60865259G>T | CA371308349 | CHD7 | n.1496G>T n.427G>T c.*1379G>T (n.*1379G>T) c.8320G>T (p.Gly2774Cys) c.2173G>T (p.Gly725Cys) n.366G>T c.8410G>T (p.Gly2804Cys) c.8407G>T (p.Gly2803Cys) c.8188G>T (p.Gly2730Cys) c.6397G>T (p.Gly2133Cys) c.5947G>T (p.Gly1983Cys) c.5155G>T (p.Gly1719Cys) c.8317G>T (p.Gly2773Cys) | |
8 | g.60865260G>A | CA371308354 | CHD7 | n.1497G>A n.428G>A c.*1380G>A (n.*1380G>A) c.8321G>A (p.Gly2774Asp) c.2174G>A (p.Gly725Asp) n.367G>A c.8411G>A (p.Gly2804Asp) c.8408G>A (p.Gly2803Asp) c.8189G>A (p.Gly2730Asp) c.6398G>A (p.Gly2133Asp) c.5948G>A (p.Gly1983Asp) c.5156G>A (p.Gly1719Asp) c.8318G>A (p.Gly2773Asp) | |
8 | g.60865260G>C | CA371308357 | CHD7 | n.1497G>C n.428G>C c.*1380G>C (n.*1380G>C) c.8321G>C (p.Gly2774Ala) c.2174G>C (p.Gly725Ala) n.367G>C c.8411G>C (p.Gly2804Ala) c.8408G>C (p.Gly2803Ala) c.8189G>C (p.Gly2730Ala) c.6398G>C (p.Gly2133Ala) c.5948G>C (p.Gly1983Ala) c.5156G>C (p.Gly1719Ala) c.8318G>C (p.Gly2773Ala) | |
8 | g.60865260G>T | CA371308360 | CHD7 | n.1497G>T n.428G>T c.*1380G>T (n.*1380G>T) c.8321G>T (p.Gly2774Val) c.2174G>T (p.Gly725Val) n.367G>T c.8411G>T (p.Gly2804Val) c.8408G>T (p.Gly2803Val) c.8189G>T (p.Gly2730Val) c.6398G>T (p.Gly2133Val) c.5948G>T (p.Gly1983Val) c.5156G>T (p.Gly1719Val) c.8318G>T (p.Gly2773Val) | COSMIC |
8 | g.60865261C>A | CA461105871 | CHD7 | n.1498C>A n.429C>A c.*1381C>A (n.*1381C>A) c.8322C>A (p.Gly2774=) c.2175C>A (p.Gly725=) n.368C>A c.8412C>A (p.Gly2804=) c.8409C>A (p.Gly2803=) c.8190C>A (p.Gly2730=) c.6399C>A (p.Gly2133=) c.5949C>A (p.Gly1983=) c.5157C>A (p.Gly1719=) c.8319C>A (p.Gly2773=) | |
8 | g.60865261C= | CA1788129679 | CHD7 | n.1498C= n.429C= c.*1381C= (n.*1381C=) c.8322C= (p.Gly2774=) c.2175C= (p.Gly725=) n.368C= c.8412C= (p.Gly2804=) c.8409C= (p.Gly2803=) c.8190C= (p.Gly2730=) c.6399C= (p.Gly2133=) c.5949C= (p.Gly1983=) c.5157C= (p.Gly1719=) c.8319C= (p.Gly2773=) | |
8 | g.60865261C>G | CA4760988 | CHD7 | n.1498C>G n.429C>G c.*1381C>G (n.*1381C>G) c.8322C>G (p.Gly2774=) c.2175C>G (p.Gly725=) n.368C>G c.8412C>G (p.Gly2804=) c.8409C>G (p.Gly2803=) c.8190C>G (p.Gly2730=) c.6399C>G (p.Gly2133=) c.5949C>G (p.Gly1983=) c.5157C>G (p.Gly1719=) c.8319C>G (p.Gly2773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865261C>T | CA461105869 | CHD7 | n.1498C>T n.429C>T c.*1381C>T (n.*1381C>T) c.8322C>T (p.Gly2774=) c.2175C>T (p.Gly725=) n.368C>T c.8412C>T (p.Gly2804=) c.8409C>T (p.Gly2803=) c.8190C>T (p.Gly2730=) c.6399C>T (p.Gly2133=) c.5949C>T (p.Gly1983=) c.5157C>T (p.Gly1719=) c.8319C>T (p.Gly2773=) | |
8 | g.60865262T>A | CA371308368 | CHD7 | n.1499T>A n.430T>A c.*1382T>A (n.*1382T>A) c.8323T>A (p.Phe2775Ile) c.2176T>A (p.Phe726Ile) n.369T>A c.8413T>A (p.Phe2805Ile) c.8410T>A (p.Phe2804Ile) c.8191T>A (p.Phe2731Ile) c.6400T>A (p.Phe2134Ile) c.5950T>A (p.Phe1984Ile) c.5158T>A (p.Phe1720Ile) c.8320T>A (p.Phe2774Ile) | |
8 | g.60865262T>C | CA371308371 | CHD7 | n.1499T>C n.430T>C c.*1382T>C (n.*1382T>C) c.8323T>C (p.Phe2775Leu) c.2176T>C (p.Phe726Leu) n.369T>C c.8413T>C (p.Phe2805Leu) c.8410T>C (p.Phe2804Leu) c.8191T>C (p.Phe2731Leu) c.6400T>C (p.Phe2134Leu) c.5950T>C (p.Phe1984Leu) c.5158T>C (p.Phe1720Leu) c.8320T>C (p.Phe2774Leu) | |
8 | g.60865262T>G | CA371308377 | CHD7 | n.1499T>G n.430T>G c.*1382T>G (n.*1382T>G) c.8323T>G (p.Phe2775Val) c.2176T>G (p.Phe726Val) n.369T>G c.8413T>G (p.Phe2805Val) c.8410T>G (p.Phe2804Val) c.8191T>G (p.Phe2731Val) c.6400T>G (p.Phe2134Val) c.5950T>G (p.Phe1984Val) c.5158T>G (p.Phe1720Val) c.8320T>G (p.Phe2774Val) | |
8 | g.60865263T>A | CA371308384 | CHD7 | n.1500T>A n.431T>A c.*1383T>A (n.*1383T>A) c.8324T>A (p.Phe2775Tyr) c.2177T>A (p.Phe726Tyr) n.370T>A c.8414T>A (p.Phe2805Tyr) c.8411T>A (p.Phe2804Tyr) c.8192T>A (p.Phe2731Tyr) c.6401T>A (p.Phe2134Tyr) c.5951T>A (p.Phe1984Tyr) c.5159T>A (p.Phe1720Tyr) c.8321T>A (p.Phe2774Tyr) | |
8 | g.60865263T>C | CA371308388 | CHD7 | n.1500T>C n.431T>C c.*1383T>C (n.*1383T>C) c.8324T>C (p.Phe2775Ser) c.2177T>C (p.Phe726Ser) n.370T>C c.8414T>C (p.Phe2805Ser) c.8411T>C (p.Phe2804Ser) c.8192T>C (p.Phe2731Ser) c.6401T>C (p.Phe2134Ser) c.5951T>C (p.Phe1984Ser) c.5159T>C (p.Phe1720Ser) c.8321T>C (p.Phe2774Ser) | ClinVar |
8 | g.60865263T>G | CA371308391 | CHD7 | n.1500T>G n.431T>G c.*1383T>G (n.*1383T>G) c.8324T>G (p.Phe2775Cys) c.2177T>G (p.Phe726Cys) n.370T>G c.8414T>G (p.Phe2805Cys) c.8411T>G (p.Phe2804Cys) c.8192T>G (p.Phe2731Cys) c.6401T>G (p.Phe2134Cys) c.5951T>G (p.Phe1984Cys) c.5159T>G (p.Phe1720Cys) c.8321T>G (p.Phe2774Cys) | |
8 | g.60865264C>A | CA371308395 | CHD7 | n.1501C>A n.432C>A c.*1384C>A (n.*1384C>A) c.8325C>A (p.Phe2775Leu) c.2178C>A (p.Phe726Leu) n.371C>A c.8415C>A (p.Phe2805Leu) c.8412C>A (p.Phe2804Leu) c.8193C>A (p.Phe2731Leu) c.6402C>A (p.Phe2134Leu) c.5952C>A (p.Phe1984Leu) c.5160C>A (p.Phe1720Leu) c.8322C>A (p.Phe2774Leu) | |
8 | g.60865264C>G | CA371308397 | CHD7 | n.1501C>G n.432C>G c.*1384C>G (n.*1384C>G) c.8325C>G (p.Phe2775Leu) c.2178C>G (p.Phe726Leu) n.371C>G c.8415C>G (p.Phe2805Leu) c.8412C>G (p.Phe2804Leu) c.8193C>G (p.Phe2731Leu) c.6402C>G (p.Phe2134Leu) c.5952C>G (p.Phe1984Leu) c.5160C>G (p.Phe1720Leu) c.8322C>G (p.Phe2774Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.60865264C>T | CA461105875 | CHD7 | n.1501C>T n.432C>T c.*1384C>T (n.*1384C>T) c.8325C>T (p.Phe2775=) c.2178C>T (p.Phe726=) n.371C>T c.8415C>T (p.Phe2805=) c.8412C>T (p.Phe2804=) c.8193C>T (p.Phe2731=) c.6402C>T (p.Phe2134=) c.5952C>T (p.Phe1984=) c.5160C>T (p.Phe1720=) c.8322C>T (p.Phe2774=) | gnomAD v4 |
8 | g.60865265C>A | CA371308402 | CHD7 | n.1502C>A n.433C>A c.*1385C>A (n.*1385C>A) c.8326C>A (p.Pro2776Thr) c.2179C>A (p.Pro727Thr) n.372C>A c.8416C>A (p.Pro2806Thr) c.8413C>A (p.Pro2805Thr) c.8194C>A (p.Pro2732Thr) c.6403C>A (p.Pro2135Thr) c.5953C>A (p.Pro1985Thr) c.5161C>A (p.Pro1721Thr) c.8323C>A (p.Pro2775Thr) | |
8 | g.60865265C= | CA1788129689 | CHD7 | n.1502C= n.433C= c.*1385C= (n.*1385C=) c.8326C= (p.Pro2776=) c.2179C= (p.Pro727=) n.372C= c.8416C= (p.Pro2806=) c.8413C= (p.Pro2805=) c.8194C= (p.Pro2732=) c.6403C= (p.Pro2135=) c.5953C= (p.Pro1985=) c.5161C= (p.Pro1721=) c.8323C= (p.Pro2775=) | |
8 | g.60865265C>G | CA371308405 | CHD7 | n.1502C>G n.433C>G c.*1385C>G (n.*1385C>G) c.8326C>G (p.Pro2776Ala) c.2179C>G (p.Pro727Ala) n.372C>G c.8416C>G (p.Pro2806Ala) c.8413C>G (p.Pro2805Ala) c.8194C>G (p.Pro2732Ala) c.6403C>G (p.Pro2135Ala) c.5953C>G (p.Pro1985Ala) c.5161C>G (p.Pro1721Ala) c.8323C>G (p.Pro2775Ala) | |
8 | g.60865265C>T | CA4760989 | CHD7 | n.1502C>T n.433C>T c.*1385C>T (n.*1385C>T) c.8326C>T (p.Pro2776Ser) c.2179C>T (p.Pro727Ser) n.372C>T c.8416C>T (p.Pro2806Ser) c.8413C>T (p.Pro2805Ser) c.8194C>T (p.Pro2732Ser) c.6403C>T (p.Pro2135Ser) c.5953C>T (p.Pro1985Ser) c.5161C>T (p.Pro1721Ser) c.8323C>T (p.Pro2775Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865266C>A | CA371308414 | CHD7 | n.1503C>A n.434C>A c.*1386C>A (n.*1386C>A) c.8327C>A (p.Pro2776His) c.2180C>A (p.Pro727His) n.373C>A c.8417C>A (p.Pro2806His) c.8414C>A (p.Pro2805His) c.8195C>A (p.Pro2732His) c.6404C>A (p.Pro2135His) c.5954C>A (p.Pro1985His) c.5162C>A (p.Pro1721His) c.8324C>A (p.Pro2775His) | |
8 | g.60865266C= | CA1788129691 | CHD7 | n.1503C= n.434C= c.*1386C= (n.*1386C=) c.8327C= (p.Pro2776=) c.2180C= (p.Pro727=) n.373C= c.8417C= (p.Pro2806=) c.8414C= (p.Pro2805=) c.8195C= (p.Pro2732=) c.6404C= (p.Pro2135=) c.5954C= (p.Pro1985=) c.5162C= (p.Pro1721=) c.8324C= (p.Pro2775=) | |
8 | g.60865266C>G | CA371308417 | CHD7 | n.1503C>G n.434C>G c.*1386C>G (n.*1386C>G) c.8327C>G (p.Pro2776Arg) c.2180C>G (p.Pro727Arg) n.373C>G c.8417C>G (p.Pro2806Arg) c.8414C>G (p.Pro2805Arg) c.8195C>G (p.Pro2732Arg) c.6404C>G (p.Pro2135Arg) c.5954C>G (p.Pro1985Arg) c.5162C>G (p.Pro1721Arg) c.8324C>G (p.Pro2775Arg) | |
8 | g.60865266C>T | CA371308420 | CHD7 | n.1503C>T n.434C>T c.*1386C>T (n.*1386C>T) c.8327C>T (p.Pro2776Leu) c.2180C>T (p.Pro727Leu) n.373C>T c.8417C>T (p.Pro2806Leu) c.8414C>T (p.Pro2805Leu) c.8195C>T (p.Pro2732Leu) c.6404C>T (p.Pro2135Leu) c.5954C>T (p.Pro1985Leu) c.5162C>T (p.Pro1721Leu) c.8324C>T (p.Pro2775Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865267T>A | CA461105877 | CHD7 | n.1504T>A n.435T>A c.*1387T>A (n.*1387T>A) c.8328T>A (p.Pro2776=) c.2181T>A (p.Pro727=) n.374T>A c.8418T>A (p.Pro2806=) c.8415T>A (p.Pro2805=) c.8196T>A (p.Pro2732=) c.6405T>A (p.Pro2135=) c.5955T>A (p.Pro1985=) c.5163T>A (p.Pro1721=) c.8325T>A (p.Pro2775=) | |
8 | g.60865267T>C | CA461105880 | CHD7 | n.1504T>C n.435T>C c.*1387T>C (n.*1387T>C) c.8328T>C (p.Pro2776=) c.2181T>C (p.Pro727=) n.374T>C c.8418T>C (p.Pro2806=) c.8415T>C (p.Pro2805=) c.8196T>C (p.Pro2732=) c.6405T>C (p.Pro2135=) c.5955T>C (p.Pro1985=) c.5163T>C (p.Pro1721=) c.8325T>C (p.Pro2775=) | |
8 | g.60865267T>G | CA461105878 | CHD7 | n.1504T>G n.435T>G c.*1387T>G (n.*1387T>G) c.8328T>G (p.Pro2776=) c.2181T>G (p.Pro727=) n.374T>G c.8418T>G (p.Pro2806=) c.8415T>G (p.Pro2805=) c.8196T>G (p.Pro2732=) c.6405T>G (p.Pro2135=) c.5955T>G (p.Pro1985=) c.5163T>G (p.Pro1721=) c.8325T>G (p.Pro2775=) | |
8 | g.60865268C>A | CA371308425 | CHD7 | n.1505C>A n.436C>A c.*1388C>A (n.*1388C>A) c.8329C>A (p.Pro2777Thr) c.2182C>A (p.Pro728Thr) n.375C>A c.8419C>A (p.Pro2807Thr) c.8416C>A (p.Pro2806Thr) c.8197C>A (p.Pro2733Thr) c.6406C>A (p.Pro2136Thr) c.5956C>A (p.Pro1986Thr) c.5164C>A (p.Pro1722Thr) c.8326C>A (p.Pro2776Thr) | ClinVar gnomAD v4 |
8 | g.60865268C>G | CA371308428 | CHD7 | n.1505C>G n.436C>G c.*1388C>G (n.*1388C>G) c.8329C>G (p.Pro2777Ala) c.2182C>G (p.Pro728Ala) n.375C>G c.8419C>G (p.Pro2807Ala) c.8416C>G (p.Pro2806Ala) c.8197C>G (p.Pro2733Ala) c.6406C>G (p.Pro2136Ala) c.5956C>G (p.Pro1986Ala) c.5164C>G (p.Pro1722Ala) c.8326C>G (p.Pro2776Ala) | gnomAD v4 |
8 | g.60865268C>T | CA371308432 | CHD7 | n.1505C>T n.436C>T c.*1388C>T (n.*1388C>T) c.8329C>T (p.Pro2777Ser) c.2182C>T (p.Pro728Ser) n.375C>T c.8419C>T (p.Pro2807Ser) c.8416C>T (p.Pro2806Ser) c.8197C>T (p.Pro2733Ser) c.6406C>T (p.Pro2136Ser) c.5956C>T (p.Pro1986Ser) c.5164C>T (p.Pro1722Ser) c.8326C>T (p.Pro2776Ser) | |
8 | g.60865269C>A | CA371308436 | CHD7 | n.1506C>A n.437C>A c.*1389C>A (n.*1389C>A) c.8330C>A (p.Pro2777Gln) c.2183C>A (p.Pro728Gln) n.376C>A c.8420C>A (p.Pro2807Gln) c.8417C>A (p.Pro2806Gln) c.8198C>A (p.Pro2733Gln) c.6407C>A (p.Pro2136Gln) c.5957C>A (p.Pro1986Gln) c.5165C>A (p.Pro1722Gln) c.8327C>A (p.Pro2776Gln) | |
8 | g.60865269C>G | CA371308440 | CHD7 | n.1506C>G n.437C>G c.*1389C>G (n.*1389C>G) c.8330C>G (p.Pro2777Arg) c.2183C>G (p.Pro728Arg) n.376C>G c.8420C>G (p.Pro2807Arg) c.8417C>G (p.Pro2806Arg) c.8198C>G (p.Pro2733Arg) c.6407C>G (p.Pro2136Arg) c.5957C>G (p.Pro1986Arg) c.5165C>G (p.Pro1722Arg) c.8327C>G (p.Pro2776Arg) | |
8 | g.60865269C>T | CA371308445 | CHD7 | n.1506C>T n.437C>T c.*1389C>T (n.*1389C>T) c.8330C>T (p.Pro2777Leu) c.2183C>T (p.Pro728Leu) n.376C>T c.8420C>T (p.Pro2807Leu) c.8417C>T (p.Pro2806Leu) c.8198C>T (p.Pro2733Leu) c.6407C>T (p.Pro2136Leu) c.5957C>T (p.Pro1986Leu) c.5165C>T (p.Pro1722Leu) c.8327C>T (p.Pro2776Leu) | |
8 | g.60865270A>C | CA461105884 | CHD7 | n.1507A>C n.438A>C c.*1390A>C (n.*1390A>C) c.8331A>C (p.Pro2777=) c.2184A>C (p.Pro728=) n.377A>C c.8421A>C (p.Pro2807=) c.8418A>C (p.Pro2806=) c.8199A>C (p.Pro2733=) c.6408A>C (p.Pro2136=) c.5958A>C (p.Pro1986=) c.5166A>C (p.Pro1722=) c.8328A>C (p.Pro2776=) | |
8 | g.60865270A>G | CA461105885 | CHD7 | n.1507A>G n.438A>G c.*1390A>G (n.*1390A>G) c.8331A>G (p.Pro2777=) c.2184A>G (p.Pro728=) n.377A>G c.8421A>G (p.Pro2807=) c.8418A>G (p.Pro2806=) c.8199A>G (p.Pro2733=) c.6408A>G (p.Pro2136=) c.5958A>G (p.Pro1986=) c.5166A>G (p.Pro1722=) c.8328A>G (p.Pro2776=) | gnomAD v4 |
8 | g.60865270A>T | CA461105886 | CHD7 | n.1507A>T n.438A>T c.*1390A>T (n.*1390A>T) c.8331A>T (p.Pro2777=) c.2184A>T (p.Pro728=) n.377A>T c.8421A>T (p.Pro2807=) c.8418A>T (p.Pro2806=) c.8199A>T (p.Pro2733=) c.6408A>T (p.Pro2136=) c.5958A>T (p.Pro1986=) c.5166A>T (p.Pro1722=) c.8328A>T (p.Pro2776=) | |
8 | g.60865271G>A | CA371308453 | CHD7 | n.1508G>A n.439G>A c.*1391G>A (n.*1391G>A) c.8332G>A (p.Gly2778Arg) c.2185G>A (p.Gly729Arg) n.378G>A c.8422G>A (p.Gly2808Arg) c.8419G>A (p.Gly2807Arg) c.8200G>A (p.Gly2734Arg) c.6409G>A (p.Gly2137Arg) c.5959G>A (p.Gly1987Arg) c.5167G>A (p.Gly1723Arg) c.8329G>A (p.Gly2777Arg) | ClinVar dbSNP |
8 | g.60865271G>C | CA371308457 | CHD7 | n.1508G>C n.439G>C c.*1391G>C (n.*1391G>C) c.8332G>C (p.Gly2778Arg) c.2185G>C (p.Gly729Arg) n.378G>C c.8422G>C (p.Gly2808Arg) c.8419G>C (p.Gly2807Arg) c.8200G>C (p.Gly2734Arg) c.6409G>C (p.Gly2137Arg) c.5959G>C (p.Gly1987Arg) c.5167G>C (p.Gly1723Arg) c.8329G>C (p.Gly2777Arg) | |
8 | g.60865271G= | CA1788129698 | CHD7 | n.1508G= n.439G= c.*1391G= (n.*1391G=) c.8332G= (p.Gly2778=) c.2185G= (p.Gly729=) n.378G= c.8422G= (p.Gly2808=) c.8419G= (p.Gly2807=) c.8200G= (p.Gly2734=) c.6409G= (p.Gly2137=) c.5959G= (p.Gly1987=) c.5167G= (p.Gly1723=) c.8329G= (p.Gly2777=) | |
8 | g.60865271G>T | CA371308450 | CHD7 | n.1508G>T n.439G>T c.*1391G>T (n.*1391G>T) c.8332G>T (p.Gly2778Ter) c.2185G>T (p.Gly729Ter) n.378G>T c.8422G>T (p.Gly2808Ter) c.8419G>T (p.Gly2807Ter) c.8200G>T (p.Gly2734Ter) c.6409G>T (p.Gly2137Ter) c.5959G>T (p.Gly1987Ter) c.5167G>T (p.Gly1723Ter) c.8329G>T (p.Gly2777Ter) | |
8 | g.60865272G>A | CA371308461 | CHD7 | n.1509G>A n.440G>A c.*1392G>A (n.*1392G>A) c.8333G>A (p.Gly2778Glu) c.2186G>A (p.Gly729Glu) n.379G>A c.8423G>A (p.Gly2808Glu) c.8420G>A (p.Gly2807Glu) c.8201G>A (p.Gly2734Glu) c.6410G>A (p.Gly2137Glu) c.5960G>A (p.Gly1987Glu) c.5168G>A (p.Gly1723Glu) c.8330G>A (p.Gly2777Glu) | |
8 | g.60865272G>C | CA371308466 | CHD7 | n.1509G>C n.440G>C c.*1392G>C (n.*1392G>C) c.8333G>C (p.Gly2778Ala) c.2186G>C (p.Gly729Ala) n.379G>C c.8423G>C (p.Gly2808Ala) c.8420G>C (p.Gly2807Ala) c.8201G>C (p.Gly2734Ala) c.6410G>C (p.Gly2137Ala) c.5960G>C (p.Gly1987Ala) c.5168G>C (p.Gly1723Ala) c.8330G>C (p.Gly2777Ala) | dbSNP |
8 | g.60865272G= | CA1788129708 | CHD7 | n.1509G= n.440G= c.*1392G= (n.*1392G=) c.8333G= (p.Gly2778=) c.2186G= (p.Gly729=) n.379G= c.8423G= (p.Gly2808=) c.8420G= (p.Gly2807=) c.8201G= (p.Gly2734=) c.6410G= (p.Gly2137=) c.5960G= (p.Gly1987=) c.5168G= (p.Gly1723=) c.8330G= (p.Gly2777=) | |
8 | g.60865272G>T | CA4760990 | CHD7 | n.1509G>T n.440G>T c.*1392G>T (n.*1392G>T) c.8333G>T (p.Gly2778Val) c.2186G>T (p.Gly729Val) n.379G>T c.8423G>T (p.Gly2808Val) c.8420G>T (p.Gly2807Val) c.8201G>T (p.Gly2734Val) c.6410G>T (p.Gly2137Val) c.5960G>T (p.Gly1987Val) c.5168G>T (p.Gly1723Val) c.8330G>T (p.Gly2777Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865273A= | CA1788129710 | CHD7 | n.1510A= n.441A= c.*1393A= (n.*1393A=) c.8334A= (p.Gly2778=) c.2187A= (p.Gly729=) n.380A= c.8424A= (p.Gly2808=) c.8421A= (p.Gly2807=) c.8202A= (p.Gly2734=) c.6411A= (p.Gly2137=) c.5961A= (p.Gly1987=) c.5169A= (p.Gly1723=) c.8331A= (p.Gly2777=) | |
8 | g.60865273A>C | CA461105891 | CHD7 | n.1510A>C n.441A>C c.*1393A>C (n.*1393A>C) c.8334A>C (p.Gly2778=) c.2187A>C (p.Gly729=) n.380A>C c.8424A>C (p.Gly2808=) c.8421A>C (p.Gly2807=) c.8202A>C (p.Gly2734=) c.6411A>C (p.Gly2137=) c.5961A>C (p.Gly1987=) c.5169A>C (p.Gly1723=) c.8331A>C (p.Gly2777=) | |
8 | g.60865273A>G | CA461105892 | CHD7 | n.1510A>G n.441A>G c.*1393A>G (n.*1393A>G) c.8334A>G (p.Gly2778=) c.2187A>G (p.Gly729=) n.380A>G c.8424A>G (p.Gly2808=) c.8421A>G (p.Gly2807=) c.8202A>G (p.Gly2734=) c.6411A>G (p.Gly2137=) c.5961A>G (p.Gly1987=) c.5169A>G (p.Gly1723=) c.8331A>G (p.Gly2777=) | |
8 | g.60865273A>T | CA461105893 | CHD7 | n.1510A>T n.441A>T c.*1393A>T (n.*1393A>T) c.8334A>T (p.Gly2778=) c.2187A>T (p.Gly729=) n.380A>T c.8424A>T (p.Gly2808=) c.8421A>T (p.Gly2807=) c.8202A>T (p.Gly2734=) c.6411A>T (p.Gly2137=) c.5961A>T (p.Gly1987=) c.5169A>T (p.Gly1723=) c.8331A>T (p.Gly2777=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865274C>A | CA371308473 | CHD7 | n.1511C>A n.442C>A c.*1394C>A (n.*1394C>A) c.8335C>A (p.Leu2779Met) c.2188C>A (p.Leu730Met) n.381C>A c.8425C>A (p.Leu2809Met) c.8422C>A (p.Leu2808Met) c.8203C>A (p.Leu2735Met) c.6412C>A (p.Leu2138Met) c.5962C>A (p.Leu1988Met) c.5170C>A (p.Leu1724Met) c.8332C>A (p.Leu2778Met) | gnomAD v4 |
8 | g.60865274C>G | CA371308475 | CHD7 | n.1511C>G n.442C>G c.*1394C>G (n.*1394C>G) c.8335C>G (p.Leu2779Val) c.2188C>G (p.Leu730Val) n.381C>G c.8425C>G (p.Leu2809Val) c.8422C>G (p.Leu2808Val) c.8203C>G (p.Leu2735Val) c.6412C>G (p.Leu2138Val) c.5962C>G (p.Leu1988Val) c.5170C>G (p.Leu1724Val) c.8332C>G (p.Leu2778Val) | |
8 | g.60865274C>T | CA461105894 | CHD7 | n.1511C>T n.442C>T c.*1394C>T (n.*1394C>T) c.8335C>T (p.Leu2779=) c.2188C>T (p.Leu730=) n.381C>T c.8425C>T (p.Leu2809=) c.8422C>T (p.Leu2808=) c.8203C>T (p.Leu2735=) c.6412C>T (p.Leu2138=) c.5962C>T (p.Leu1988=) c.5170C>T (p.Leu1724=) c.8332C>T (p.Leu2778=) | |
8 | g.60865275T>A | CA371308483 | CHD7 | n.1512T>A n.443T>A c.*1395T>A (n.*1395T>A) c.8336T>A (p.Leu2779Gln) c.2189T>A (p.Leu730Gln) n.382T>A c.8426T>A (p.Leu2809Gln) c.8423T>A (p.Leu2808Gln) c.8204T>A (p.Leu2735Gln) c.6413T>A (p.Leu2138Gln) c.5963T>A (p.Leu1988Gln) c.5171T>A (p.Leu1724Gln) c.8333T>A (p.Leu2778Gln) | |
8 | g.60865275T>C | CA371308481 | CHD7 | n.1512T>C n.443T>C c.*1395T>C (n.*1395T>C) c.8336T>C (p.Leu2779Pro) c.2189T>C (p.Leu730Pro) n.382T>C c.8426T>C (p.Leu2809Pro) c.8423T>C (p.Leu2808Pro) c.8204T>C (p.Leu2735Pro) c.6413T>C (p.Leu2138Pro) c.5963T>C (p.Leu1988Pro) c.5171T>C (p.Leu1724Pro) c.8333T>C (p.Leu2778Pro) | |
8 | g.60865275T>G | CA371308478 | CHD7 | n.1512T>G n.443T>G c.*1395T>G (n.*1395T>G) c.8336T>G (p.Leu2779Arg) c.2189T>G (p.Leu730Arg) n.382T>G c.8426T>G (p.Leu2809Arg) c.8423T>G (p.Leu2808Arg) c.8204T>G (p.Leu2735Arg) c.6413T>G (p.Leu2138Arg) c.5963T>G (p.Leu1988Arg) c.5171T>G (p.Leu1724Arg) c.8333T>G (p.Leu2778Arg) | |
8 | g.60865276G>A | CA461105895 | CHD7 | n.1513G>A n.444G>A c.*1396G>A (n.*1396G>A) c.8337G>A (p.Leu2779=) c.2190G>A (p.Leu730=) n.383G>A c.8427G>A (p.Leu2809=) c.8424G>A (p.Leu2808=) c.8205G>A (p.Leu2735=) c.6414G>A (p.Leu2138=) c.5964G>A (p.Leu1988=) c.5172G>A (p.Leu1724=) c.8334G>A (p.Leu2778=) | |
8 | g.60865276G>C | CA461105896 | CHD7 | n.1513G>C n.444G>C c.*1396G>C (n.*1396G>C) c.8337G>C (p.Leu2779=) c.2190G>C (p.Leu730=) n.383G>C c.8427G>C (p.Leu2809=) c.8424G>C (p.Leu2808=) c.8205G>C (p.Leu2735=) c.6414G>C (p.Leu2138=) c.5964G>C (p.Leu1988=) c.5172G>C (p.Leu1724=) c.8334G>C (p.Leu2778=) | |
8 | g.60865276G>T | CA461105897 | CHD7 | n.1513G>T n.444G>T c.*1396G>T (n.*1396G>T) c.8337G>T (p.Leu2779=) c.2190G>T (p.Leu730=) n.383G>T c.8427G>T (p.Leu2809=) c.8424G>T (p.Leu2808=) c.8205G>T (p.Leu2735=) c.6414G>T (p.Leu2138=) c.5964G>T (p.Leu1988=) c.5172G>T (p.Leu1724=) c.8334G>T (p.Leu2778=) | |
8 | g.60865277G>A | CA371308490 | CHD7 | n.1514G>A n.445G>A c.*1397G>A (n.*1397G>A) c.8338G>A (p.Ala2780Thr) c.2191G>A (p.Ala731Thr) n.384G>A c.8428G>A (p.Ala2810Thr) c.8425G>A (p.Ala2809Thr) c.8206G>A (p.Ala2736Thr) c.6415G>A (p.Ala2139Thr) c.5965G>A (p.Ala1989Thr) c.5173G>A (p.Ala1725Thr) c.8335G>A (p.Ala2779Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865277G>C | CA371308495 | CHD7 | n.1514G>C n.445G>C c.*1397G>C (n.*1397G>C) c.8338G>C (p.Ala2780Pro) c.2191G>C (p.Ala731Pro) n.384G>C c.8428G>C (p.Ala2810Pro) c.8425G>C (p.Ala2809Pro) c.8206G>C (p.Ala2736Pro) c.6415G>C (p.Ala2139Pro) c.5965G>C (p.Ala1989Pro) c.5173G>C (p.Ala1725Pro) c.8335G>C (p.Ala2779Pro) | |
8 | g.60865277G= | CA1788129716 | CHD7 | n.1514G= n.445G= c.*1397G= (n.*1397G=) c.8338G= (p.Ala2780=) c.2191G= (p.Ala731=) n.384G= c.8428G= (p.Ala2810=) c.8425G= (p.Ala2809=) c.8206G= (p.Ala2736=) c.6415G= (p.Ala2139=) c.5965G= (p.Ala1989=) c.5173G= (p.Ala1725=) c.8335G= (p.Ala2779=) | |
8 | g.60865277G>T | CA371308498 | CHD7 | n.1514G>T n.445G>T c.*1397G>T (n.*1397G>T) c.8338G>T (p.Ala2780Ser) c.2191G>T (p.Ala731Ser) n.384G>T c.8428G>T (p.Ala2810Ser) c.8425G>T (p.Ala2809Ser) c.8206G>T (p.Ala2736Ser) c.6415G>T (p.Ala2139Ser) c.5965G>T (p.Ala1989Ser) c.5173G>T (p.Ala1725Ser) c.8335G>T (p.Ala2779Ser) | gnomAD v4 |
8 | g.60865278C>A | CA371308504 | CHD7 | n.1515C>A n.446C>A c.*1398C>A (n.*1398C>A) c.8339C>A (p.Ala2780Glu) c.2192C>A (p.Ala731Glu) n.385C>A c.8429C>A (p.Ala2810Glu) c.8426C>A (p.Ala2809Glu) c.8207C>A (p.Ala2736Glu) c.6416C>A (p.Ala2139Glu) c.5966C>A (p.Ala1989Glu) c.5174C>A (p.Ala1725Glu) c.8336C>A (p.Ala2779Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865278C= | CA1788129726 | CHD7 | n.1515C= n.446C= c.*1398C= (n.*1398C=) c.8339C= (p.Ala2780=) c.2192C= (p.Ala731=) n.385C= c.8429C= (p.Ala2810=) c.8426C= (p.Ala2809=) c.8207C= (p.Ala2736=) c.6416C= (p.Ala2139=) c.5966C= (p.Ala1989=) c.5174C= (p.Ala1725=) c.8336C= (p.Ala2779=) | |
8 | g.60865278C>G | CA371308507 | CHD7 | n.1515C>G n.446C>G c.*1398C>G (n.*1398C>G) c.8339C>G (p.Ala2780Gly) c.2192C>G (p.Ala731Gly) n.385C>G c.8429C>G (p.Ala2810Gly) c.8426C>G (p.Ala2809Gly) c.8207C>G (p.Ala2736Gly) c.6416C>G (p.Ala2139Gly) c.5966C>G (p.Ala1989Gly) c.5174C>G (p.Ala1725Gly) c.8336C>G (p.Ala2779Gly) | |
8 | g.60865278C>T | CA4760991 | CHD7 | n.1515C>T n.446C>T c.*1398C>T (n.*1398C>T) c.8339C>T (p.Ala2780Val) c.2192C>T (p.Ala731Val) n.385C>T c.8429C>T (p.Ala2810Val) c.8426C>T (p.Ala2809Val) c.8207C>T (p.Ala2736Val) c.6416C>T (p.Ala2139Val) c.5966C>T (p.Ala1989Val) c.5174C>T (p.Ala1725Val) c.8336C>T (p.Ala2779Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865279A= | CA1788129730 | CHD7 | n.1516A= n.447A= c.*1399A= (n.*1399A=) c.8340A= (p.Ala2780=) c.2193A= (p.Ala731=) n.386A= c.8430A= (p.Ala2810=) c.8427A= (p.Ala2809=) c.8208A= (p.Ala2736=) c.6417A= (p.Ala2139=) c.5967A= (p.Ala1989=) c.5175A= (p.Ala1725=) c.8337A= (p.Ala2779=) | |
8 | g.60865279A>C | CA461105898 | CHD7 | n.1516A>C n.447A>C c.*1399A>C (n.*1399A>C) c.8340A>C (p.Ala2780=) c.2193A>C (p.Ala731=) n.386A>C c.8430A>C (p.Ala2810=) c.8427A>C (p.Ala2809=) c.8208A>C (p.Ala2736=) c.6417A>C (p.Ala2139=) c.5967A>C (p.Ala1989=) c.5175A>C (p.Ala1725=) c.8337A>C (p.Ala2779=) | |
8 | g.60865279A>G | CA461105900 | CHD7 | n.1516A>G n.447A>G c.*1399A>G (n.*1399A>G) c.8340A>G (p.Ala2780=) c.2193A>G (p.Ala731=) n.386A>G c.8430A>G (p.Ala2810=) c.8427A>G (p.Ala2809=) c.8208A>G (p.Ala2736=) c.6417A>G (p.Ala2139=) c.5967A>G (p.Ala1989=) c.5175A>G (p.Ala1725=) c.8337A>G (p.Ala2779=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865279A>T | CA461105899 | CHD7 | n.1516A>T n.447A>T c.*1399A>T (n.*1399A>T) c.8340A>T (p.Ala2780=) c.2193A>T (p.Ala731=) n.386A>T c.8430A>T (p.Ala2810=) c.8427A>T (p.Ala2809=) c.8208A>T (p.Ala2736=) c.6417A>T (p.Ala2139=) c.5967A>T (p.Ala1989=) c.5175A>T (p.Ala1725=) c.8337A>T (p.Ala2779=) | |
8 | g.60865280A>C | CA371308514 | CHD7 | n.1517A>C n.448A>C c.*1400A>C (n.*1400A>C) c.8341A>C (p.Thr2781Pro) c.2194A>C (p.Thr732Pro) n.387A>C c.8431A>C (p.Thr2811Pro) c.8428A>C (p.Thr2810Pro) c.8209A>C (p.Thr2737Pro) c.6418A>C (p.Thr2140Pro) c.5968A>C (p.Thr1990Pro) c.5176A>C (p.Thr1726Pro) c.8338A>C (p.Thr2780Pro) | |
8 | g.60865280A>G | CA371308521 | CHD7 | n.1517A>G n.448A>G c.*1400A>G (n.*1400A>G) c.8341A>G (p.Thr2781Ala) c.2194A>G (p.Thr732Ala) n.387A>G c.8431A>G (p.Thr2811Ala) c.8428A>G (p.Thr2810Ala) c.8209A>G (p.Thr2737Ala) c.6418A>G (p.Thr2140Ala) c.5968A>G (p.Thr1990Ala) c.5176A>G (p.Thr1726Ala) c.8338A>G (p.Thr2780Ala) | |
8 | g.60865280A>T | CA371308518 | CHD7 | n.1517A>T n.448A>T c.*1400A>T (n.*1400A>T) c.8341A>T (p.Thr2781Ser) c.2194A>T (p.Thr732Ser) n.387A>T c.8431A>T (p.Thr2811Ser) c.8428A>T (p.Thr2810Ser) c.8209A>T (p.Thr2737Ser) c.6418A>T (p.Thr2140Ser) c.5968A>T (p.Thr1990Ser) c.5176A>T (p.Thr1726Ser) c.8338A>T (p.Thr2780Ser) | |
8 | g.60865281C>A | CA371308527 | CHD7 | n.1518C>A n.449C>A c.*1401C>A (n.*1401C>A) c.8342C>A (p.Thr2781Lys) c.2195C>A (p.Thr732Lys) n.388C>A c.8432C>A (p.Thr2811Lys) c.8429C>A (p.Thr2810Lys) c.8210C>A (p.Thr2737Lys) c.6419C>A (p.Thr2140Lys) c.5969C>A (p.Thr1990Lys) c.5177C>A (p.Thr1726Lys) c.8339C>A (p.Thr2780Lys) | |
8 | g.60865281C= | CA1788129736 | CHD7 | n.1518C= n.449C= c.*1401C= (n.*1401C=) c.8342C= (p.Thr2781=) c.2195C= (p.Thr732=) n.388C= c.8432C= (p.Thr2811=) c.8429C= (p.Thr2810=) c.8210C= (p.Thr2737=) c.6419C= (p.Thr2140=) c.5969C= (p.Thr1990=) c.5177C= (p.Thr1726=) c.8339C= (p.Thr2780=) | |
8 | g.60865281C>G | CA371308530 | CHD7 | n.1518C>G n.449C>G c.*1401C>G (n.*1401C>G) c.8342C>G (p.Thr2781Arg) c.2195C>G (p.Thr732Arg) n.388C>G c.8432C>G (p.Thr2811Arg) c.8429C>G (p.Thr2810Arg) c.8210C>G (p.Thr2737Arg) c.6419C>G (p.Thr2140Arg) c.5969C>G (p.Thr1990Arg) c.5177C>G (p.Thr1726Arg) c.8339C>G (p.Thr2780Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865281C>T | CA371308534 | CHD7 | n.1518C>T n.449C>T c.*1401C>T (n.*1401C>T) c.8342C>T (p.Thr2781Ile) c.2195C>T (p.Thr732Ile) n.388C>T c.8432C>T (p.Thr2811Ile) c.8429C>T (p.Thr2810Ile) c.8210C>T (p.Thr2737Ile) c.6419C>T (p.Thr2140Ile) c.5969C>T (p.Thr1990Ile) c.5177C>T (p.Thr1726Ile) c.8339C>T (p.Thr2780Ile) | gnomAD v4 |
8 | g.60865282A>C | CA461105901 | CHD7 | n.1519A>C n.450A>C c.*1402A>C (n.*1402A>C) c.8343A>C (p.Thr2781=) c.2196A>C (p.Thr732=) n.389A>C c.8433A>C (p.Thr2811=) c.8430A>C (p.Thr2810=) c.8211A>C (p.Thr2737=) c.6420A>C (p.Thr2140=) c.5970A>C (p.Thr1990=) c.5178A>C (p.Thr1726=) c.8340A>C (p.Thr2780=) | |
8 | g.60865282A>G | CA461105902 | CHD7 | n.1519A>G n.450A>G c.*1402A>G (n.*1402A>G) c.8343A>G (p.Thr2781=) c.2196A>G (p.Thr732=) n.389A>G c.8433A>G (p.Thr2811=) c.8430A>G (p.Thr2810=) c.8211A>G (p.Thr2737=) c.6420A>G (p.Thr2140=) c.5970A>G (p.Thr1990=) c.5178A>G (p.Thr1726=) c.8340A>G (p.Thr2780=) | |
8 | g.60865282A>T | CA461105903 | CHD7 | n.1519A>T n.450A>T c.*1402A>T (n.*1402A>T) c.8343A>T (p.Thr2781=) c.2196A>T (p.Thr732=) n.389A>T c.8433A>T (p.Thr2811=) c.8430A>T (p.Thr2810=) c.8211A>T (p.Thr2737=) c.6420A>T (p.Thr2140=) c.5970A>T (p.Thr1990=) c.5178A>T (p.Thr1726=) c.8340A>T (p.Thr2780=) | |
8 | g.60865283G>A | CA371308539 | CHD7 | n.1520G>A n.451G>A c.*1403G>A (n.*1403G>A) c.8344G>A (p.Ala2782Thr) c.2197G>A (p.Ala733Thr) n.390G>A c.8434G>A (p.Ala2812Thr) c.8431G>A (p.Ala2811Thr) c.8212G>A (p.Ala2738Thr) c.6421G>A (p.Ala2141Thr) c.5971G>A (p.Ala1991Thr) c.5179G>A (p.Ala1727Thr) c.8341G>A (p.Ala2781Thr) | gnomAD v4 |
8 | g.60865283G>C | CA371308542 | CHD7 | n.1520G>C n.451G>C c.*1403G>C (n.*1403G>C) c.8344G>C (p.Ala2782Pro) c.2197G>C (p.Ala733Pro) n.390G>C c.8434G>C (p.Ala2812Pro) c.8431G>C (p.Ala2811Pro) c.8212G>C (p.Ala2738Pro) c.6421G>C (p.Ala2141Pro) c.5971G>C (p.Ala1991Pro) c.5179G>C (p.Ala1727Pro) c.8341G>C (p.Ala2781Pro) | |
8 | g.60865283G>T | CA371308545 | CHD7 | n.1520G>T n.451G>T c.*1403G>T (n.*1403G>T) c.8344G>T (p.Ala2782Ser) c.2197G>T (p.Ala733Ser) n.390G>T c.8434G>T (p.Ala2812Ser) c.8431G>T (p.Ala2811Ser) c.8212G>T (p.Ala2738Ser) c.6421G>T (p.Ala2141Ser) c.5971G>T (p.Ala1991Ser) c.5179G>T (p.Ala1727Ser) c.8341G>T (p.Ala2781Ser) | gnomAD v4 |
8 | g.60865284C>A | CA371308550 | CHD7 | n.1521C>A n.452C>A c.*1404C>A (n.*1404C>A) c.8345C>A (p.Ala2782Asp) c.2198C>A (p.Ala733Asp) n.391C>A c.8435C>A (p.Ala2812Asp) c.8432C>A (p.Ala2811Asp) c.8213C>A (p.Ala2738Asp) c.6422C>A (p.Ala2141Asp) c.5972C>A (p.Ala1991Asp) c.5180C>A (p.Ala1727Asp) c.8342C>A (p.Ala2781Asp) | gnomAD v4 |
8 | g.60865284C= | CA1788129741 | CHD7 | n.1521C= n.452C= c.*1404C= (n.*1404C=) c.8345C= (p.Ala2782=) c.2198C= (p.Ala733=) n.391C= c.8435C= (p.Ala2812=) c.8432C= (p.Ala2811=) c.8213C= (p.Ala2738=) c.6422C= (p.Ala2141=) c.5972C= (p.Ala1991=) c.5180C= (p.Ala1727=) c.8342C= (p.Ala2781=) | |
8 | g.60865284C>G | CA371308552 | CHD7 | n.1521C>G n.452C>G c.*1404C>G (n.*1404C>G) c.8345C>G (p.Ala2782Gly) c.2198C>G (p.Ala733Gly) n.391C>G c.8435C>G (p.Ala2812Gly) c.8432C>G (p.Ala2811Gly) c.8213C>G (p.Ala2738Gly) c.6422C>G (p.Ala2141Gly) c.5972C>G (p.Ala1991Gly) c.5180C>G (p.Ala1727Gly) c.8342C>G (p.Ala2781Gly) | |
8 | g.60865284C>T | CA371308562 | CHD7 | n.1521C>T n.452C>T c.*1404C>T (n.*1404C>T) c.8345C>T (p.Ala2782Val) c.2198C>T (p.Ala733Val) n.391C>T c.8435C>T (p.Ala2812Val) c.8432C>T (p.Ala2811Val) c.8213C>T (p.Ala2738Val) c.6422C>T (p.Ala2141Val) c.5972C>T (p.Ala1991Val) c.5180C>T (p.Ala1727Val) c.8342C>T (p.Ala2781Val) | dbSNP |
8 | g.60865285T>A | CA461105904 | CHD7 | n.1522T>A n.453T>A c.*1405T>A (n.*1405T>A) c.8346T>A (p.Ala2782=) c.2199T>A (p.Ala733=) n.392T>A c.8436T>A (p.Ala2812=) c.8433T>A (p.Ala2811=) c.8214T>A (p.Ala2738=) c.6423T>A (p.Ala2141=) c.5973T>A (p.Ala1991=) c.5181T>A (p.Ala1727=) c.8343T>A (p.Ala2781=) | |
8 | g.60865285T>C | CA461105905 | CHD7 | n.1522T>C n.453T>C c.*1405T>C (n.*1405T>C) c.8346T>C (p.Ala2782=) c.2199T>C (p.Ala733=) n.392T>C c.8436T>C (p.Ala2812=) c.8433T>C (p.Ala2811=) c.8214T>C (p.Ala2738=) c.6423T>C (p.Ala2141=) c.5973T>C (p.Ala1991=) c.5181T>C (p.Ala1727=) c.8343T>C (p.Ala2781=) | |
8 | g.60865285T>G | CA461105906 | CHD7 | n.1522T>G n.453T>G c.*1405T>G (n.*1405T>G) c.8346T>G (p.Ala2782=) c.2199T>G (p.Ala733=) n.392T>G c.8436T>G (p.Ala2812=) c.8433T>G (p.Ala2811=) c.8214T>G (p.Ala2738=) c.6423T>G (p.Ala2141=) c.5973T>G (p.Ala1991=) c.5181T>G (p.Ala1727=) c.8343T>G (p.Ala2781=) |