Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60865369T>A | CA371309282 | CHD7 | n.1606T>A n.537T>A c.*1489T>A (n.*1489T>A) c.8430T>A (p.Phe2810Leu) c.2283T>A (p.Phe761Leu) n.476T>A c.8520T>A (p.Phe2840Leu) c.8517T>A (p.Phe2839Leu) c.8298T>A (p.Phe2766Leu) c.6507T>A (p.Phe2169Leu) c.6057T>A (p.Phe2019Leu) c.5265T>A (p.Phe1755Leu) c.8427T>A (p.Phe2809Leu) | |
8 | g.60865369T>C | CA461105996 | CHD7 | n.1606T>C n.537T>C c.*1489T>C (n.*1489T>C) c.8430T>C (p.Phe2810=) c.2283T>C (p.Phe761=) n.476T>C c.8520T>C (p.Phe2840=) c.8517T>C (p.Phe2839=) c.8298T>C (p.Phe2766=) c.6507T>C (p.Phe2169=) c.6057T>C (p.Phe2019=) c.5265T>C (p.Phe1755=) c.8427T>C (p.Phe2809=) | |
8 | g.60865369T>G | CA371309284 | CHD7 | n.1606T>G n.537T>G c.*1489T>G (n.*1489T>G) c.8430T>G (p.Phe2810Leu) c.2283T>G (p.Phe761Leu) n.476T>G c.8520T>G (p.Phe2840Leu) c.8517T>G (p.Phe2839Leu) c.8298T>G (p.Phe2766Leu) c.6507T>G (p.Phe2169Leu) c.6057T>G (p.Phe2019Leu) c.5265T>G (p.Phe1755Leu) c.8427T>G (p.Phe2809Leu) | |
8 | g.60865370G>A | CA4761015 | CHD7 | n.1607G>A n.538G>A c.*1490G>A (n.*1490G>A) c.8431G>A (p.Gly2811Ser) c.2284G>A (p.Gly762Ser) n.477G>A c.8521G>A (p.Gly2841Ser) c.8518G>A (p.Gly2840Ser) c.8299G>A (p.Gly2767Ser) c.6508G>A (p.Gly2170Ser) c.6058G>A (p.Gly2020Ser) c.5266G>A (p.Gly1756Ser) c.8428G>A (p.Gly2810Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865370G>C | CA371309289 | CHD7 | n.1607G>C n.538G>C c.*1490G>C (n.*1490G>C) c.8431G>C (p.Gly2811Arg) c.2284G>C (p.Gly762Arg) n.477G>C c.8521G>C (p.Gly2841Arg) c.8518G>C (p.Gly2840Arg) c.8299G>C (p.Gly2767Arg) c.6508G>C (p.Gly2170Arg) c.6058G>C (p.Gly2020Arg) c.5266G>C (p.Gly1756Arg) c.8428G>C (p.Gly2810Arg) | |
8 | g.60865370G= | CA1788130150 | CHD7 | n.1607G= n.538G= c.*1490G= (n.*1490G=) c.8431G= (p.Gly2811=) c.2284G= (p.Gly762=) n.477G= c.8521G= (p.Gly2841=) c.8518G= (p.Gly2840=) c.8299G= (p.Gly2767=) c.6508G= (p.Gly2170=) c.6058G= (p.Gly2020=) c.5266G= (p.Gly1756=) c.8428G= (p.Gly2810=) | |
8 | g.60865370G>T | CA371309293 | CHD7 | n.1607G>T n.538G>T c.*1490G>T (n.*1490G>T) c.8431G>T (p.Gly2811Cys) c.2284G>T (p.Gly762Cys) n.477G>T c.8521G>T (p.Gly2841Cys) c.8518G>T (p.Gly2840Cys) c.8299G>T (p.Gly2767Cys) c.6508G>T (p.Gly2170Cys) c.6058G>T (p.Gly2020Cys) c.5266G>T (p.Gly1756Cys) c.8428G>T (p.Gly2810Cys) | |
8 | g.60865371G>A | CA371309304 | CHD7 | n.1608G>A n.539G>A c.*1491G>A (n.*1491G>A) c.8432G>A (p.Gly2811Asp) c.2285G>A (p.Gly762Asp) n.478G>A c.8522G>A (p.Gly2841Asp) c.8519G>A (p.Gly2840Asp) c.8300G>A (p.Gly2767Asp) c.6509G>A (p.Gly2170Asp) c.6059G>A (p.Gly2020Asp) c.5267G>A (p.Gly1756Asp) c.8429G>A (p.Gly2810Asp) | gnomAD v4 |
8 | g.60865371G>C | CA371309309 | CHD7 | n.1608G>C n.539G>C c.*1491G>C (n.*1491G>C) c.8432G>C (p.Gly2811Ala) c.2285G>C (p.Gly762Ala) n.478G>C c.8522G>C (p.Gly2841Ala) c.8519G>C (p.Gly2840Ala) c.8300G>C (p.Gly2767Ala) c.6509G>C (p.Gly2170Ala) c.6059G>C (p.Gly2020Ala) c.5267G>C (p.Gly1756Ala) c.8429G>C (p.Gly2810Ala) | |
8 | g.60865371G>T | CA371309323 | CHD7 | n.1608G>T n.539G>T c.*1491G>T (n.*1491G>T) c.8432G>T (p.Gly2811Val) c.2285G>T (p.Gly762Val) n.478G>T c.8522G>T (p.Gly2841Val) c.8519G>T (p.Gly2840Val) c.8300G>T (p.Gly2767Val) c.6509G>T (p.Gly2170Val) c.6059G>T (p.Gly2020Val) c.5267G>T (p.Gly1756Val) c.8429G>T (p.Gly2810Val) | gnomAD v4 |
8 | g.60865372C>A | CA461106000 | CHD7 | n.1609C>A n.540C>A c.*1492C>A (n.*1492C>A) c.8433C>A (p.Gly2811=) c.2286C>A (p.Gly762=) n.479C>A c.8523C>A (p.Gly2841=) c.8520C>A (p.Gly2840=) c.8301C>A (p.Gly2767=) c.6510C>A (p.Gly2170=) c.6060C>A (p.Gly2020=) c.5268C>A (p.Gly1756=) c.8430C>A (p.Gly2810=) | gnomAD v4 |
8 | g.60865372C>G | CA461106001 | CHD7 | n.1609C>G n.540C>G c.*1492C>G (n.*1492C>G) c.8433C>G (p.Gly2811=) c.2286C>G (p.Gly762=) n.479C>G c.8523C>G (p.Gly2841=) c.8520C>G (p.Gly2840=) c.8301C>G (p.Gly2767=) c.6510C>G (p.Gly2170=) c.6060C>G (p.Gly2020=) c.5268C>G (p.Gly1756=) c.8430C>G (p.Gly2810=) | |
8 | g.60865372C>T | CA461106002 | CHD7 | n.1609C>T n.540C>T c.*1492C>T (n.*1492C>T) c.8433C>T (p.Gly2811=) c.2286C>T (p.Gly762=) n.479C>T c.8523C>T (p.Gly2841=) c.8520C>T (p.Gly2840=) c.8301C>T (p.Gly2767=) c.6510C>T (p.Gly2170=) c.6060C>T (p.Gly2020=) c.5268C>T (p.Gly1756=) c.8430C>T (p.Gly2810=) | gnomAD v4 |
8 | g.60865373T>A | CA371309334 | CHD7 | n.1610T>A n.541T>A c.*1493T>A (n.*1493T>A) c.8434T>A (p.Leu2812Met) c.2287T>A (p.Leu763Met) n.480T>A c.8524T>A (p.Leu2842Met) c.8521T>A (p.Leu2841Met) c.8302T>A (p.Leu2768Met) c.6511T>A (p.Leu2171Met) c.6061T>A (p.Leu2021Met) c.5269T>A (p.Leu1757Met) c.8431T>A (p.Leu2811Met) | |
8 | g.60865373T>C | CA461106003 | CHD7 | n.1610T>C n.541T>C c.*1493T>C (n.*1493T>C) c.8434T>C (p.Leu2812=) c.2287T>C (p.Leu763=) n.480T>C c.8524T>C (p.Leu2842=) c.8521T>C (p.Leu2841=) c.8302T>C (p.Leu2768=) c.6511T>C (p.Leu2171=) c.6061T>C (p.Leu2021=) c.5269T>C (p.Leu1757=) c.8431T>C (p.Leu2811=) | |
8 | g.60865373T>G | CA371309329 | CHD7 | n.1610T>G n.541T>G c.*1493T>G (n.*1493T>G) c.8434T>G (p.Leu2812Val) c.2287T>G (p.Leu763Val) n.480T>G c.8524T>G (p.Leu2842Val) c.8521T>G (p.Leu2841Val) c.8302T>G (p.Leu2768Val) c.6511T>G (p.Leu2171Val) c.6061T>G (p.Leu2021Val) c.5269T>G (p.Leu1757Val) c.8431T>G (p.Leu2811Val) | |
8 | g.60865374T>A | CA371309340 | CHD7 | n.1611T>A n.542T>A c.*1494T>A (n.*1494T>A) c.8435T>A (p.Leu2812Ter) c.2288T>A (p.Leu763Ter) n.481T>A c.8525T>A (p.Leu2842Ter) c.8522T>A (p.Leu2841Ter) c.8303T>A (p.Leu2768Ter) c.6512T>A (p.Leu2171Ter) c.6062T>A (p.Leu2021Ter) c.5270T>A (p.Leu1757Ter) c.8432T>A (p.Leu2811Ter) | |
8 | g.60865374T>C | CA371309342 | CHD7 | n.1611T>C n.542T>C c.*1494T>C (n.*1494T>C) c.8435T>C (p.Leu2812Ser) c.2288T>C (p.Leu763Ser) n.481T>C c.8525T>C (p.Leu2842Ser) c.8522T>C (p.Leu2841Ser) c.8303T>C (p.Leu2768Ser) c.6512T>C (p.Leu2171Ser) c.6062T>C (p.Leu2021Ser) c.5270T>C (p.Leu1757Ser) c.8432T>C (p.Leu2811Ser) | |
8 | g.60865374T>G | CA371309347 | CHD7 | n.1611T>G n.542T>G c.*1494T>G (n.*1494T>G) c.8435T>G (p.Leu2812Trp) c.2288T>G (p.Leu763Trp) n.481T>G c.8525T>G (p.Leu2842Trp) c.8522T>G (p.Leu2841Trp) c.8303T>G (p.Leu2768Trp) c.6512T>G (p.Leu2171Trp) c.6062T>G (p.Leu2021Trp) c.5270T>G (p.Leu1757Trp) c.8432T>G (p.Leu2811Trp) | |
8 | g.60865375G>A | CA461106009 | CHD7 | n.1612G>A n.543G>A c.*1495G>A (n.*1495G>A) c.8436G>A (p.Leu2812=) c.2289G>A (p.Leu763=) n.482G>A c.8526G>A (p.Leu2842=) c.8523G>A (p.Leu2841=) c.8304G>A (p.Leu2768=) c.6513G>A (p.Leu2171=) c.6063G>A (p.Leu2021=) c.5271G>A (p.Leu1757=) c.8433G>A (p.Leu2811=) | |
8 | g.60865375G>C | CA371309352 | CHD7 | n.1612G>C n.543G>C c.*1495G>C (n.*1495G>C) c.8436G>C (p.Leu2812Phe) c.2289G>C (p.Leu763Phe) n.482G>C c.8526G>C (p.Leu2842Phe) c.8523G>C (p.Leu2841Phe) c.8304G>C (p.Leu2768Phe) c.6513G>C (p.Leu2171Phe) c.6063G>C (p.Leu2021Phe) c.5271G>C (p.Leu1757Phe) c.8433G>C (p.Leu2811Phe) | gnomAD v4 |
8 | g.60865375G= | CA1788130155 | CHD7 | n.1612G= n.543G= c.*1495G= (n.*1495G=) c.8436G= (p.Leu2812=) c.2289G= (p.Leu763=) n.482G= c.8526G= (p.Leu2842=) c.8523G= (p.Leu2841=) c.8304G= (p.Leu2768=) c.6513G= (p.Leu2171=) c.6063G= (p.Leu2021=) c.5271G= (p.Leu1757=) c.8433G= (p.Leu2811=) | |
8 | g.60865375G>T | CA4761016 | CHD7 | n.1612G>T n.543G>T c.*1495G>T (n.*1495G>T) c.8436G>T (p.Leu2812Phe) c.2289G>T (p.Leu763Phe) n.482G>T c.8526G>T (p.Leu2842Phe) c.8523G>T (p.Leu2841Phe) c.8304G>T (p.Leu2768Phe) c.6513G>T (p.Leu2171Phe) c.6063G>T (p.Leu2021Phe) c.5271G>T (p.Leu1757Phe) c.8433G>T (p.Leu2811Phe) | ClinVar dbSNP ExAC gnomAD v2 |
8 | g.60865376G>A | CA371309360 | CHD7 | n.1613G>A n.544G>A c.*1496G>A (n.*1496G>A) c.8437G>A (p.Gly2813Ser) c.2290G>A (p.Gly764Ser) n.483G>A c.8527G>A (p.Gly2843Ser) c.8524G>A (p.Gly2842Ser) c.8305G>A (p.Gly2769Ser) c.6514G>A (p.Gly2172Ser) c.6064G>A (p.Gly2022Ser) c.5272G>A (p.Gly1758Ser) c.8434G>A (p.Gly2812Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865376G>C | CA371309364 | CHD7 | n.1613G>C n.544G>C c.*1496G>C (n.*1496G>C) c.8437G>C (p.Gly2813Arg) c.2290G>C (p.Gly764Arg) n.483G>C c.8527G>C (p.Gly2843Arg) c.8524G>C (p.Gly2842Arg) c.8305G>C (p.Gly2769Arg) c.6514G>C (p.Gly2172Arg) c.6064G>C (p.Gly2022Arg) c.5272G>C (p.Gly1758Arg) c.8434G>C (p.Gly2812Arg) | |
8 | g.60865376G= | CA1788130161 | CHD7 | n.1613G= n.544G= c.*1496G= (n.*1496G=) c.8437G= (p.Gly2813=) c.2290G= (p.Gly764=) n.483G= c.8527G= (p.Gly2843=) c.8524G= (p.Gly2842=) c.8305G= (p.Gly2769=) c.6514G= (p.Gly2172=) c.6064G= (p.Gly2022=) c.5272G= (p.Gly1758=) c.8434G= (p.Gly2812=) | |
8 | g.60865376G>T | CA371309368 | CHD7 | n.1613G>T n.544G>T c.*1496G>T (n.*1496G>T) c.8437G>T (p.Gly2813Cys) c.2290G>T (p.Gly764Cys) n.483G>T c.8527G>T (p.Gly2843Cys) c.8524G>T (p.Gly2842Cys) c.8305G>T (p.Gly2769Cys) c.6514G>T (p.Gly2172Cys) c.6064G>T (p.Gly2022Cys) c.5272G>T (p.Gly1758Cys) c.8434G>T (p.Gly2812Cys) | |
8 | g.60865377G>A | CA371309382 | CHD7 | n.1614G>A n.545G>A c.*1497G>A (n.*1497G>A) c.8438G>A (p.Gly2813Asp) c.2291G>A (p.Gly764Asp) n.484G>A c.8528G>A (p.Gly2843Asp) c.8525G>A (p.Gly2842Asp) c.8306G>A (p.Gly2769Asp) c.6515G>A (p.Gly2172Asp) c.6065G>A (p.Gly2022Asp) c.5273G>A (p.Gly1758Asp) c.8435G>A (p.Gly2812Asp) | |
8 | g.60865377G>C | CA371309387 | CHD7 | n.1614G>C n.545G>C c.*1497G>C (n.*1497G>C) c.8438G>C (p.Gly2813Ala) c.2291G>C (p.Gly764Ala) n.484G>C c.8528G>C (p.Gly2843Ala) c.8525G>C (p.Gly2842Ala) c.8306G>C (p.Gly2769Ala) c.6515G>C (p.Gly2172Ala) c.6065G>C (p.Gly2022Ala) c.5273G>C (p.Gly1758Ala) c.8435G>C (p.Gly2812Ala) | |
8 | g.60865377G= | CA1788130167 | CHD7 | n.1614G= n.545G= c.*1497G= (n.*1497G=) c.8438G= (p.Gly2813=) c.2291G= (p.Gly764=) n.484G= c.8528G= (p.Gly2843=) c.8525G= (p.Gly2842=) c.8306G= (p.Gly2769=) c.6515G= (p.Gly2172=) c.6065G= (p.Gly2022=) c.5273G= (p.Gly1758=) c.8435G= (p.Gly2812=) | |
8 | g.60865377G>T | CA4761017 | CHD7 | n.1614G>T n.545G>T c.*1497G>T (n.*1497G>T) c.8438G>T (p.Gly2813Val) c.2291G>T (p.Gly764Val) n.484G>T c.8528G>T (p.Gly2843Val) c.8525G>T (p.Gly2842Val) c.8306G>T (p.Gly2769Val) c.6515G>T (p.Gly2172Val) c.6065G>T (p.Gly2022Val) c.5273G>T (p.Gly1758Val) c.8435G>T (p.Gly2812Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865378C>A | CA461106019 | CHD7 | n.1615C>A n.546C>A c.*1498C>A (n.*1498C>A) c.8439C>A (p.Gly2813=) c.2292C>A (p.Gly764=) n.485C>A c.8529C>A (p.Gly2843=) c.8526C>A (p.Gly2842=) c.8307C>A (p.Gly2769=) c.6516C>A (p.Gly2172=) c.6066C>A (p.Gly2022=) c.5274C>A (p.Gly1758=) c.8436C>A (p.Gly2812=) | |
8 | g.60865378C= | CA1788130175 | CHD7 | n.1615C= n.546C= c.*1498C= (n.*1498C=) c.8439C= (p.Gly2813=) c.2292C= (p.Gly764=) n.485C= c.8529C= (p.Gly2843=) c.8526C= (p.Gly2842=) c.8307C= (p.Gly2769=) c.6516C= (p.Gly2172=) c.6066C= (p.Gly2022=) c.5274C= (p.Gly1758=) c.8436C= (p.Gly2812=) | |
8 | g.60865378C>G | CA461106020 | CHD7 | n.1615C>G n.546C>G c.*1498C>G (n.*1498C>G) c.8439C>G (p.Gly2813=) c.2292C>G (p.Gly764=) n.485C>G c.8529C>G (p.Gly2843=) c.8526C>G (p.Gly2842=) c.8307C>G (p.Gly2769=) c.6516C>G (p.Gly2172=) c.6066C>G (p.Gly2022=) c.5274C>G (p.Gly1758=) c.8436C>G (p.Gly2812=) | ClinVar dbSNP |
8 | g.60865378C>T | CA148891 | CHD7 | n.1615C>T n.546C>T c.*1498C>T (n.*1498C>T) c.8439C>T (p.Gly2813=) c.2292C>T (p.Gly764=) n.485C>T c.8529C>T (p.Gly2843=) c.8526C>T (p.Gly2842=) c.8307C>T (p.Gly2769=) c.6516C>T (p.Gly2172=) c.6066C>T (p.Gly2022=) c.5274C>T (p.Gly1758=) c.8436C>T (p.Gly2812=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865379G>A | CA177329554 | CHD7 | n.1616G>A n.547G>A c.*1499G>A (n.*1499G>A) c.8440G>A (p.Gly2814Arg) c.2293G>A (p.Gly765Arg) n.486G>A c.8530G>A (p.Gly2844Arg) c.8527G>A (p.Gly2843Arg) c.8308G>A (p.Gly2770Arg) c.6517G>A (p.Gly2173Arg) c.6067G>A (p.Gly2023Arg) c.5275G>A (p.Gly1759Arg) c.8437G>A (p.Gly2813Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865379G>C | CA371309402 | CHD7 | n.1616G>C n.547G>C c.*1499G>C (n.*1499G>C) c.8440G>C (p.Gly2814Arg) c.2293G>C (p.Gly765Arg) n.486G>C c.8530G>C (p.Gly2844Arg) c.8527G>C (p.Gly2843Arg) c.8308G>C (p.Gly2770Arg) c.6517G>C (p.Gly2173Arg) c.6067G>C (p.Gly2023Arg) c.5275G>C (p.Gly1759Arg) c.8437G>C (p.Gly2813Arg) | |
8 | g.60865379G= | CA1788130186 | CHD7 | n.1616G= n.547G= c.*1499G= (n.*1499G=) c.8440G= (p.Gly2814=) c.2293G= (p.Gly765=) n.486G= c.8530G= (p.Gly2844=) c.8527G= (p.Gly2843=) c.8308G= (p.Gly2770=) c.6517G= (p.Gly2173=) c.6067G= (p.Gly2023=) c.5275G= (p.Gly1759=) c.8437G= (p.Gly2813=) | |
8 | g.60865379G>T | CA371309396 | CHD7 | n.1616G>T n.547G>T c.*1499G>T (n.*1499G>T) c.8440G>T (p.Gly2814Trp) c.2293G>T (p.Gly765Trp) n.486G>T c.8530G>T (p.Gly2844Trp) c.8527G>T (p.Gly2843Trp) c.8308G>T (p.Gly2770Trp) c.6517G>T (p.Gly2173Trp) c.6067G>T (p.Gly2023Trp) c.5275G>T (p.Gly1759Trp) c.8437G>T (p.Gly2813Trp) | |
8 | g.60865381del | CA2579174038 | CHD7 | n.1618del n.549del c.*1501del (n.*1501del) c.8442del (p.Leu2815CysfsTer2) c.2295del (p.Leu766CysfsTer2) n.488del c.8532del (p.Leu2845CysfsTer2) c.8529del (p.Leu2844CysfsTer2) c.8310del (p.Leu2771CysfsTer2) c.6519del (p.Leu2174CysfsTer2) c.6069del (p.Leu2024CysfsTer2) c.5277del (p.Leu1760CysfsTer2) c.8439del (p.Leu2814CysfsTer2) | |
8 | g.60865380G>A | CA371309412 | CHD7 | n.1617G>A n.548G>A c.*1500G>A (n.*1500G>A) c.8441G>A (p.Gly2814Glu) c.2294G>A (p.Gly765Glu) n.487G>A c.8531G>A (p.Gly2844Glu) c.8528G>A (p.Gly2843Glu) c.8309G>A (p.Gly2770Glu) c.6518G>A (p.Gly2173Glu) c.6068G>A (p.Gly2023Glu) c.5276G>A (p.Gly1759Glu) c.8438G>A (p.Gly2813Glu) | |
8 | g.60865380G>C | CA371309415 | CHD7 | n.1617G>C n.548G>C c.*1500G>C (n.*1500G>C) c.8441G>C (p.Gly2814Ala) c.2294G>C (p.Gly765Ala) n.487G>C c.8531G>C (p.Gly2844Ala) c.8528G>C (p.Gly2843Ala) c.8309G>C (p.Gly2770Ala) c.6518G>C (p.Gly2173Ala) c.6068G>C (p.Gly2023Ala) c.5276G>C (p.Gly1759Ala) c.8438G>C (p.Gly2813Ala) | |
8 | g.60865380G>T | CA371309422 | CHD7 | n.1617G>T n.548G>T c.*1500G>T (n.*1500G>T) c.8441G>T (p.Gly2814Val) c.2294G>T (p.Gly765Val) n.487G>T c.8531G>T (p.Gly2844Val) c.8528G>T (p.Gly2843Val) c.8309G>T (p.Gly2770Val) c.6518G>T (p.Gly2173Val) c.6068G>T (p.Gly2023Val) c.5276G>T (p.Gly1759Val) c.8438G>T (p.Gly2813Val) | |
8 | g.60865381G>A | CA4761018 | CHD7 | n.1618G>A n.549G>A c.*1501G>A (n.*1501G>A) c.8442G>A (p.Gly2814=) c.2295G>A (p.Gly765=) n.488G>A c.8532G>A (p.Gly2844=) c.8529G>A (p.Gly2843=) c.8310G>A (p.Gly2770=) c.6519G>A (p.Gly2173=) c.6069G>A (p.Gly2023=) c.5277G>A (p.Gly1759=) c.8439G>A (p.Gly2813=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865381G>C | CA461106024 | CHD7 | n.1618G>C n.549G>C c.*1501G>C (n.*1501G>C) c.8442G>C (p.Gly2814=) c.2295G>C (p.Gly765=) n.488G>C c.8532G>C (p.Gly2844=) c.8529G>C (p.Gly2843=) c.8310G>C (p.Gly2770=) c.6519G>C (p.Gly2173=) c.6069G>C (p.Gly2023=) c.5277G>C (p.Gly1759=) c.8439G>C (p.Gly2813=) | |
8 | g.60865381G= | CA1788130191 | CHD7 | n.1618G= n.549G= c.*1501G= (n.*1501G=) c.8442G= (p.Gly2814=) c.2295G= (p.Gly765=) n.488G= c.8532G= (p.Gly2844=) c.8529G= (p.Gly2843=) c.8310G= (p.Gly2770=) c.6519G= (p.Gly2173=) c.6069G= (p.Gly2023=) c.5277G= (p.Gly1759=) c.8439G= (p.Gly2813=) | |
8 | g.60865381G>T | CA461106026 | CHD7 | n.1618G>T n.549G>T c.*1501G>T (n.*1501G>T) c.8442G>T (p.Gly2814=) c.2295G>T (p.Gly765=) n.488G>T c.8532G>T (p.Gly2844=) c.8529G>T (p.Gly2843=) c.8310G>T (p.Gly2770=) c.6519G>T (p.Gly2173=) c.6069G>T (p.Gly2023=) c.5277G>T (p.Gly1759=) c.8439G>T (p.Gly2813=) | |
8 | g.60865382C>A | CA371309429 | CHD7 | n.1619C>A n.550C>A c.*1502C>A (n.*1502C>A) c.8443C>A (p.Leu2815Met) c.2296C>A (p.Leu766Met) n.489C>A c.8533C>A (p.Leu2845Met) c.8530C>A (p.Leu2844Met) c.8311C>A (p.Leu2771Met) c.6520C>A (p.Leu2174Met) c.6070C>A (p.Leu2024Met) c.5278C>A (p.Leu1760Met) c.8440C>A (p.Leu2814Met) | |
8 | g.60865382C>G | CA371309430 | CHD7 | n.1619C>G n.550C>G c.*1502C>G (n.*1502C>G) c.8443C>G (p.Leu2815Val) c.2296C>G (p.Leu766Val) n.489C>G c.8533C>G (p.Leu2845Val) c.8530C>G (p.Leu2844Val) c.8311C>G (p.Leu2771Val) c.6520C>G (p.Leu2174Val) c.6070C>G (p.Leu2024Val) c.5278C>G (p.Leu1760Val) c.8440C>G (p.Leu2814Val) | |
8 | g.60865382C>T | CA461106029 | CHD7 | n.1619C>T n.550C>T c.*1502C>T (n.*1502C>T) c.8443C>T (p.Leu2815=) c.2296C>T (p.Leu766=) n.489C>T c.8533C>T (p.Leu2845=) c.8530C>T (p.Leu2844=) c.8311C>T (p.Leu2771=) c.6520C>T (p.Leu2174=) c.6070C>T (p.Leu2024=) c.5278C>T (p.Leu1760=) c.8440C>T (p.Leu2814=) | gnomAD v4 |
8 | g.60865383T>A | CA371309434 | CHD7 | n.1620T>A n.551T>A c.*1503T>A (n.*1503T>A) c.8444T>A (p.Leu2815Gln) c.2297T>A (p.Leu766Gln) n.490T>A c.8534T>A (p.Leu2845Gln) c.8531T>A (p.Leu2844Gln) c.8312T>A (p.Leu2771Gln) c.6521T>A (p.Leu2174Gln) c.6071T>A (p.Leu2024Gln) c.5279T>A (p.Leu1760Gln) c.8441T>A (p.Leu2814Gln) | |
8 | g.60865383T>C | CA371309439 | CHD7 | n.1620T>C n.551T>C c.*1503T>C (n.*1503T>C) c.8444T>C (p.Leu2815Pro) c.2297T>C (p.Leu766Pro) n.490T>C c.8534T>C (p.Leu2845Pro) c.8531T>C (p.Leu2844Pro) c.8312T>C (p.Leu2771Pro) c.6521T>C (p.Leu2174Pro) c.6071T>C (p.Leu2024Pro) c.5279T>C (p.Leu1760Pro) c.8441T>C (p.Leu2814Pro) | |
8 | g.60865383T>G | CA371309443 | CHD7 | n.1620T>G n.551T>G c.*1503T>G (n.*1503T>G) c.8444T>G (p.Leu2815Arg) c.2297T>G (p.Leu766Arg) n.490T>G c.8534T>G (p.Leu2845Arg) c.8531T>G (p.Leu2844Arg) c.8312T>G (p.Leu2771Arg) c.6521T>G (p.Leu2174Arg) c.6071T>G (p.Leu2024Arg) c.5279T>G (p.Leu1760Arg) c.8441T>G (p.Leu2814Arg) | |
8 | g.60865384G>A | CA461106032 | CHD7 | n.1621G>A n.552G>A c.*1504G>A (n.*1504G>A) c.8445G>A (p.Leu2815=) c.2298G>A (p.Leu766=) n.491G>A c.8535G>A (p.Leu2845=) c.8532G>A (p.Leu2844=) c.8313G>A (p.Leu2771=) c.6522G>A (p.Leu2174=) c.6072G>A (p.Leu2024=) c.5280G>A (p.Leu1760=) c.8442G>A (p.Leu2814=) | |
8 | g.60865384G>C | CA461106033 | CHD7 | n.1621G>C n.552G>C c.*1504G>C (n.*1504G>C) c.8445G>C (p.Leu2815=) c.2298G>C (p.Leu766=) n.491G>C c.8535G>C (p.Leu2845=) c.8532G>C (p.Leu2844=) c.8313G>C (p.Leu2771=) c.6522G>C (p.Leu2174=) c.6072G>C (p.Leu2024=) c.5280G>C (p.Leu1760=) c.8442G>C (p.Leu2814=) | |
8 | g.60865384G>T | CA461106035 | CHD7 | n.1621G>T n.552G>T c.*1504G>T (n.*1504G>T) c.8445G>T (p.Leu2815=) c.2298G>T (p.Leu766=) n.491G>T c.8535G>T (p.Leu2845=) c.8532G>T (p.Leu2844=) c.8313G>T (p.Leu2771=) c.6522G>T (p.Leu2174=) c.6072G>T (p.Leu2024=) c.5280G>T (p.Leu1760=) c.8442G>T (p.Leu2814=) | |
8 | g.60865385T>A | CA371309459 | CHD7 | n.1622T>A n.553T>A c.*1505T>A (n.*1505T>A) c.8446T>A (p.Leu2816Met) c.2299T>A (p.Leu767Met) n.492T>A c.8536T>A (p.Leu2846Met) c.8533T>A (p.Leu2845Met) c.8314T>A (p.Leu2772Met) c.6523T>A (p.Leu2175Met) c.6073T>A (p.Leu2025Met) c.5281T>A (p.Leu1761Met) c.8443T>A (p.Leu2815Met) | |
8 | g.60865385T>C | CA244937 | CHD7 | n.1622T>C n.553T>C c.*1505T>C (n.*1505T>C) c.8446T>C (p.Leu2816=) c.2299T>C (p.Leu767=) n.492T>C c.8536T>C (p.Leu2846=) c.8533T>C (p.Leu2845=) c.8314T>C (p.Leu2772=) c.6523T>C (p.Leu2175=) c.6073T>C (p.Leu2025=) c.5281T>C (p.Leu1761=) c.8443T>C (p.Leu2815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865385T>G | CA371309463 | CHD7 | n.1622T>G n.553T>G c.*1505T>G (n.*1505T>G) c.8446T>G (p.Leu2816Val) c.2299T>G (p.Leu767Val) n.492T>G c.8536T>G (p.Leu2846Val) c.8533T>G (p.Leu2845Val) c.8314T>G (p.Leu2772Val) c.6523T>G (p.Leu2175Val) c.6073T>G (p.Leu2025Val) c.5281T>G (p.Leu1761Val) c.8443T>G (p.Leu2815Val) | |
8 | g.60865385T= | CA1788130203 | CHD7 | n.1622T= n.553T= c.*1505T= (n.*1505T=) c.8446T= (p.Leu2816=) c.2299T= (p.Leu767=) n.492T= c.8536T= (p.Leu2846=) c.8533T= (p.Leu2845=) c.8314T= (p.Leu2772=) c.6523T= (p.Leu2175=) c.6073T= (p.Leu2025=) c.5281T= (p.Leu1761=) c.8443T= (p.Leu2815=) | |
8 | g.60865386T>A | CA371309477 | CHD7 | n.1623T>A n.554T>A c.*1506T>A (n.*1506T>A) c.8447T>A (p.Leu2816Ter) c.2300T>A (p.Leu767Ter) n.493T>A c.8537T>A (p.Leu2846Ter) c.8534T>A (p.Leu2845Ter) c.8315T>A (p.Leu2772Ter) c.6524T>A (p.Leu2175Ter) c.6074T>A (p.Leu2025Ter) c.5282T>A (p.Leu1761Ter) c.8444T>A (p.Leu2815Ter) | |
8 | g.60865386T>C | CA371309472 | CHD7 | n.1623T>C n.554T>C c.*1506T>C (n.*1506T>C) c.8447T>C (p.Leu2816Ser) c.2300T>C (p.Leu767Ser) n.493T>C c.8537T>C (p.Leu2846Ser) c.8534T>C (p.Leu2845Ser) c.8315T>C (p.Leu2772Ser) c.6524T>C (p.Leu2175Ser) c.6074T>C (p.Leu2025Ser) c.5282T>C (p.Leu1761Ser) c.8444T>C (p.Leu2815Ser) | |
8 | g.60865386T>G | CA371309468 | CHD7 | n.1623T>G n.554T>G c.*1506T>G (n.*1506T>G) c.8447T>G (p.Leu2816Trp) c.2300T>G (p.Leu767Trp) n.493T>G c.8537T>G (p.Leu2846Trp) c.8534T>G (p.Leu2845Trp) c.8315T>G (p.Leu2772Trp) c.6524T>G (p.Leu2175Trp) c.6074T>G (p.Leu2025Trp) c.5282T>G (p.Leu1761Trp) c.8444T>G (p.Leu2815Trp) | |
8 | g.60865387G>A | CA461106040 | CHD7 | n.1624G>A n.555G>A c.*1507G>A (n.*1507G>A) c.8448G>A (p.Leu2816=) c.2301G>A (p.Leu767=) n.494G>A c.8538G>A (p.Leu2846=) c.8535G>A (p.Leu2845=) c.8316G>A (p.Leu2772=) c.6525G>A (p.Leu2175=) c.6075G>A (p.Leu2025=) c.5283G>A (p.Leu1761=) c.8445G>A (p.Leu2815=) | |
8 | g.60865387G>C | CA371309482 | CHD7 | n.1624G>C n.555G>C c.*1507G>C (n.*1507G>C) c.8448G>C (p.Leu2816Phe) c.2301G>C (p.Leu767Phe) n.494G>C c.8538G>C (p.Leu2846Phe) c.8535G>C (p.Leu2845Phe) c.8316G>C (p.Leu2772Phe) c.6525G>C (p.Leu2175Phe) c.6075G>C (p.Leu2025Phe) c.5283G>C (p.Leu1761Phe) c.8445G>C (p.Leu2815Phe) | |
8 | g.60865387G>T | CA371309485 | CHD7 | n.1624G>T n.555G>T c.*1507G>T (n.*1507G>T) c.8448G>T (p.Leu2816Phe) c.2301G>T (p.Leu767Phe) n.494G>T c.8538G>T (p.Leu2846Phe) c.8535G>T (p.Leu2845Phe) c.8316G>T (p.Leu2772Phe) c.6525G>T (p.Leu2175Phe) c.6075G>T (p.Leu2025Phe) c.5283G>T (p.Leu1761Phe) c.8445G>T (p.Leu2815Phe) | |
8 | g.60865388A>C | CA371309490 | CHD7 | n.1625A>C n.556A>C c.*1508A>C (n.*1508A>C) c.8449A>C (p.Asn2817His) c.2302A>C (p.Asn768His) n.495A>C c.8539A>C (p.Asn2847His) c.8536A>C (p.Asn2846His) c.8317A>C (p.Asn2773His) c.6526A>C (p.Asn2176His) c.6076A>C (p.Asn2026His) c.5284A>C (p.Asn1762His) c.8446A>C (p.Asn2816His) | |
8 | g.60865388A>G | CA371309494 | CHD7 | n.1625A>G n.556A>G c.*1508A>G (n.*1508A>G) c.8449A>G (p.Asn2817Asp) c.2302A>G (p.Asn768Asp) n.495A>G c.8539A>G (p.Asn2847Asp) c.8536A>G (p.Asn2846Asp) c.8317A>G (p.Asn2773Asp) c.6526A>G (p.Asn2176Asp) c.6076A>G (p.Asn2026Asp) c.5284A>G (p.Asn1762Asp) c.8446A>G (p.Asn2816Asp) | |
8 | g.60865388A>T | CA371309500 | CHD7 | n.1625A>T n.556A>T c.*1508A>T (n.*1508A>T) c.8449A>T (p.Asn2817Tyr) c.2302A>T (p.Asn768Tyr) n.495A>T c.8539A>T (p.Asn2847Tyr) c.8536A>T (p.Asn2846Tyr) c.8317A>T (p.Asn2773Tyr) c.6526A>T (p.Asn2176Tyr) c.6076A>T (p.Asn2026Tyr) c.5284A>T (p.Asn1762Tyr) c.8446A>T (p.Asn2816Tyr) | |
8 | g.60865389A>C | CA371309506 | CHD7 | n.1626A>C n.557A>C c.*1509A>C (n.*1509A>C) c.8450A>C (p.Asn2817Thr) c.2303A>C (p.Asn768Thr) n.496A>C c.8540A>C (p.Asn2847Thr) c.8537A>C (p.Asn2846Thr) c.8318A>C (p.Asn2773Thr) c.6527A>C (p.Asn2176Thr) c.6077A>C (p.Asn2026Thr) c.5285A>C (p.Asn1762Thr) c.8447A>C (p.Asn2816Thr) | |
8 | g.60865389A>G | CA371309512 | CHD7 | n.1626A>G n.557A>G c.*1509A>G (n.*1509A>G) c.8450A>G (p.Asn2817Ser) c.2303A>G (p.Asn768Ser) n.496A>G c.8540A>G (p.Asn2847Ser) c.8537A>G (p.Asn2846Ser) c.8318A>G (p.Asn2773Ser) c.6527A>G (p.Asn2176Ser) c.6077A>G (p.Asn2026Ser) c.5285A>G (p.Asn1762Ser) c.8447A>G (p.Asn2816Ser) | gnomAD v4 COSMIC |
8 | g.60865389A>T | CA371309516 | CHD7 | n.1626A>T n.557A>T c.*1509A>T (n.*1509A>T) c.8450A>T (p.Asn2817Ile) c.2303A>T (p.Asn768Ile) n.496A>T c.8540A>T (p.Asn2847Ile) c.8537A>T (p.Asn2846Ile) c.8318A>T (p.Asn2773Ile) c.6527A>T (p.Asn2176Ile) c.6077A>T (p.Asn2026Ile) c.5285A>T (p.Asn1762Ile) c.8447A>T (p.Asn2816Ile) | COSMIC |
8 | g.60865390T>A | CA371309523 | CHD7 | n.1627T>A n.558T>A c.*1510T>A (n.*1510T>A) c.8451T>A (p.Asn2817Lys) c.2304T>A (p.Asn768Lys) n.497T>A c.8541T>A (p.Asn2847Lys) c.8538T>A (p.Asn2846Lys) c.8319T>A (p.Asn2773Lys) c.6528T>A (p.Asn2176Lys) c.6078T>A (p.Asn2026Lys) c.5286T>A (p.Asn1762Lys) c.8448T>A (p.Asn2816Lys) | |
8 | g.60865390T>C | CA461106049 | CHD7 | n.1627T>C n.558T>C c.*1510T>C (n.*1510T>C) c.8451T>C (p.Asn2817=) c.2304T>C (p.Asn768=) n.497T>C c.8541T>C (p.Asn2847=) c.8538T>C (p.Asn2846=) c.8319T>C (p.Asn2773=) c.6528T>C (p.Asn2176=) c.6078T>C (p.Asn2026=) c.5286T>C (p.Asn1762=) c.8448T>C (p.Asn2816=) | gnomAD v4 |
8 | g.60865390T>G | CA371309538 | CHD7 | n.1627T>G n.558T>G c.*1510T>G (n.*1510T>G) c.8451T>G (p.Asn2817Lys) c.2304T>G (p.Asn768Lys) n.497T>G c.8541T>G (p.Asn2847Lys) c.8538T>G (p.Asn2846Lys) c.8319T>G (p.Asn2773Lys) c.6528T>G (p.Asn2176Lys) c.6078T>G (p.Asn2026Lys) c.5286T>G (p.Asn1762Lys) c.8448T>G (p.Asn2816Lys) | |
8 | g.60865390T= | CA1788130218 | CHD7 | n.1627T= n.558T= c.*1510T= (n.*1510T=) c.8451T= (p.Asn2817=) c.2304T= (p.Asn768=) n.497T= c.8541T= (p.Asn2847=) c.8538T= (p.Asn2846=) c.8319T= (p.Asn2773=) c.6528T= (p.Asn2176=) c.6078T= (p.Asn2026=) c.5286T= (p.Asn1762=) c.8448T= (p.Asn2816=) | |
8 | g.60865391_60865398dup | CA2695203182 | CHD7 | n.1628_1635dup n.559_566dup c.*1511_*1518dup (n.*1511_*1518dup) c.8452_8459dup (p.Ser2821ThrfsTer?) c.2305_2312dup (p.Ser772ThrfsTer?) n.498_505dup c.8542_8549dup (p.Ser2851ThrfsTer?) c.8539_8546dup (p.Ser2850ThrfsTer?) c.8320_8327dup (p.Ser2777ThrfsTer?) c.6529_6536dup (p.Ser2180ThrfsTer?) c.6079_6086dup (p.Ser2030ThrfsTer?) c.5287_5294dup (p.Ser1766ThrfsTer?) c.8449_8456dup (p.Ser2820ThrfsTer?) | |
8 | g.60865391A>C | CA371309544 | CHD7 | n.1628A>C n.559A>C c.*1511A>C (n.*1511A>C) c.8452A>C (p.Asn2818His) c.2305A>C (p.Asn769His) n.498A>C c.8542A>C (p.Asn2848His) c.8539A>C (p.Asn2847His) c.8320A>C (p.Asn2774His) c.6529A>C (p.Asn2177His) c.6079A>C (p.Asn2027His) c.5287A>C (p.Asn1763His) c.8449A>C (p.Asn2817His) | |
8 | g.60865391A>G | CA371309549 | CHD7 | n.1628A>G n.559A>G c.*1511A>G (n.*1511A>G) c.8452A>G (p.Asn2818Asp) c.2305A>G (p.Asn769Asp) n.498A>G c.8542A>G (p.Asn2848Asp) c.8539A>G (p.Asn2847Asp) c.8320A>G (p.Asn2774Asp) c.6529A>G (p.Asn2177Asp) c.6079A>G (p.Asn2027Asp) c.5287A>G (p.Asn1763Asp) c.8449A>G (p.Asn2817Asp) | gnomAD v4 |
8 | g.60865391A>T | CA371309552 | CHD7 | n.1628A>T n.559A>T c.*1511A>T (n.*1511A>T) c.8452A>T (p.Asn2818Tyr) c.2305A>T (p.Asn769Tyr) n.498A>T c.8542A>T (p.Asn2848Tyr) c.8539A>T (p.Asn2847Tyr) c.8320A>T (p.Asn2774Tyr) c.6529A>T (p.Asn2177Tyr) c.6079A>T (p.Asn2027Tyr) c.5287A>T (p.Asn1763Tyr) c.8449A>T (p.Asn2817Tyr) | |
8 | g.60865391_60865393dup | CA582403679 | CHD7 | n.1628_1630dup n.559_561dup c.*1511_*1513dup (n.*1511_*1513dup) c.8452_8454dup (p.Asn2818_Pro2819insAsn) c.2305_2307dup (p.Asn769_Pro770insAsn) n.498_500dup c.8542_8544dup (p.Asn2848_Pro2849insAsn) c.8539_8541dup (p.Asn2847_Pro2848insAsn) c.8320_8322dup (p.Asn2774_Pro2775insAsn) c.6529_6531dup (p.Asn2177_Pro2178insAsn) c.6079_6081dup (p.Asn2027_Pro2028insAsn) c.5287_5289dup (p.Asn1763_Pro1764insAsn) c.8449_8451dup (p.Asn2817_Pro2818insAsn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865392_60865402dup | CA275232 | CHD7 | n.1629_1639dup n.560_570dup c.*1512_*1522dup (n.*1512_*1522dup) c.8453_8463dup (p.Ala2822ThrfsTer?) c.2306_2316dup (p.Ala773ThrfsTer?) n.499_509dup c.8543_8553dup (p.Ala2852ThrfsTer?) c.8540_8550dup (p.Ala2851ThrfsTer?) c.8321_8331dup (p.Ala2778ThrfsTer?) c.6530_6540dup (p.Ala2181ThrfsTer?) c.6080_6090dup (p.Ala2031ThrfsTer?) c.5288_5298dup (p.Ala1767ThrfsTer?) c.8450_8460dup (p.Ala2821ThrfsTer?) | ClinVar dbSNP |
8 | g.60865392A= | CA1788130238 | CHD7 | n.1629A= n.560A= c.*1512A= (n.*1512A=) c.8453A= (p.Asn2818=) c.2306A= (p.Asn769=) n.499A= c.8543A= (p.Asn2848=) c.8540A= (p.Asn2847=) c.8321A= (p.Asn2774=) c.6530A= (p.Asn2177=) c.6080A= (p.Asn2027=) c.5288A= (p.Asn1763=) c.8450A= (p.Asn2817=) | |
8 | g.60865392A>C | CA371309562 | CHD7 | n.1629A>C n.560A>C c.*1512A>C (n.*1512A>C) c.8453A>C (p.Asn2818Thr) c.2306A>C (p.Asn769Thr) n.499A>C c.8543A>C (p.Asn2848Thr) c.8540A>C (p.Asn2847Thr) c.8321A>C (p.Asn2774Thr) c.6530A>C (p.Asn2177Thr) c.6080A>C (p.Asn2027Thr) c.5288A>C (p.Asn1763Thr) c.8450A>C (p.Asn2817Thr) | dbSNP |
8 | g.60865392A>G | CA4761019 | CHD7 | n.1629A>G n.560A>G c.*1512A>G (n.*1512A>G) c.8453A>G (p.Asn2818Ser) c.2306A>G (p.Asn769Ser) n.499A>G c.8543A>G (p.Asn2848Ser) c.8540A>G (p.Asn2847Ser) c.8321A>G (p.Asn2774Ser) c.6530A>G (p.Asn2177Ser) c.6080A>G (p.Asn2027Ser) c.5288A>G (p.Asn1763Ser) c.8450A>G (p.Asn2817Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865392A>T | CA371309558 | CHD7 | n.1629A>T n.560A>T c.*1512A>T (n.*1512A>T) c.8453A>T (p.Asn2818Ile) c.2306A>T (p.Asn769Ile) n.499A>T c.8543A>T (p.Asn2848Ile) c.8540A>T (p.Asn2847Ile) c.8321A>T (p.Asn2774Ile) c.6530A>T (p.Asn2177Ile) c.6080A>T (p.Asn2027Ile) c.5288A>T (p.Asn1763Ile) c.8450A>T (p.Asn2817Ile) | |
8 | g.60865393C>A | CA371309568 | CHD7 | n.1630C>A n.561C>A c.*1513C>A (n.*1513C>A) c.8454C>A (p.Asn2818Lys) c.2307C>A (p.Asn769Lys) n.500C>A c.8544C>A (p.Asn2848Lys) c.8541C>A (p.Asn2847Lys) c.8322C>A (p.Asn2774Lys) c.6531C>A (p.Asn2177Lys) c.6081C>A (p.Asn2027Lys) c.5289C>A (p.Asn1763Lys) c.8451C>A (p.Asn2817Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865393C= | CA1788130248 | CHD7 | n.1630C= n.561C= c.*1513C= (n.*1513C=) c.8454C= (p.Asn2818=) c.2307C= (p.Asn769=) n.500C= c.8544C= (p.Asn2848=) c.8541C= (p.Asn2847=) c.8322C= (p.Asn2774=) c.6531C= (p.Asn2177=) c.6081C= (p.Asn2027=) c.5289C= (p.Asn1763=) c.8451C= (p.Asn2817=) | |
8 | g.60865393C>G | CA371309570 | CHD7 | n.1630C>G n.561C>G c.*1513C>G (n.*1513C>G) c.8454C>G (p.Asn2818Lys) c.2307C>G (p.Asn769Lys) n.500C>G c.8544C>G (p.Asn2848Lys) c.8541C>G (p.Asn2847Lys) c.8322C>G (p.Asn2774Lys) c.6531C>G (p.Asn2177Lys) c.6081C>G (p.Asn2027Lys) c.5289C>G (p.Asn1763Lys) c.8451C>G (p.Asn2817Lys) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865393C>T | CA461106053 | CHD7 | n.1630C>T n.561C>T c.*1513C>T (n.*1513C>T) c.8454C>T (p.Asn2818=) c.2307C>T (p.Asn769=) n.500C>T c.8544C>T (p.Asn2848=) c.8541C>T (p.Asn2847=) c.8322C>T (p.Asn2774=) c.6531C>T (p.Asn2177=) c.6081C>T (p.Asn2027=) c.5289C>T (p.Asn1763=) c.8451C>T (p.Asn2817=) | ClinVar gnomAD v4 |
8 | g.60865395del | CA2573053046 | CHD7 | n.1632del n.563del c.*1515del (n.*1515del) c.8456del (p.Pro2819LeufsTer?) c.2309del (p.Pro770LeufsTer?) n.502del c.8546del (p.Pro2849LeufsTer?) c.8543del (p.Pro2848LeufsTer?) c.8324del (p.Pro2775LeufsTer?) c.6533del (p.Pro2178LeufsTer?) c.6083del (p.Pro2028LeufsTer?) c.5291del (p.Pro1764LeufsTer?) c.8453del (p.Pro2818LeufsTer?) | ClinVar dbSNP |
8 | g.60865394C>A | CA371309577 | CHD7 | n.1631C>A n.562C>A c.*1514C>A (n.*1514C>A) c.8455C>A (p.Pro2819Thr) c.2308C>A (p.Pro770Thr) n.501C>A c.8545C>A (p.Pro2849Thr) c.8542C>A (p.Pro2848Thr) c.8323C>A (p.Pro2775Thr) c.6532C>A (p.Pro2178Thr) c.6082C>A (p.Pro2028Thr) c.5290C>A (p.Pro1764Thr) c.8452C>A (p.Pro2818Thr) | |
8 | g.60865394C>G | CA371309581 | CHD7 | n.1631C>G n.562C>G c.*1514C>G (n.*1514C>G) c.8455C>G (p.Pro2819Ala) c.2308C>G (p.Pro770Ala) n.501C>G c.8545C>G (p.Pro2849Ala) c.8542C>G (p.Pro2848Ala) c.8323C>G (p.Pro2775Ala) c.6532C>G (p.Pro2178Ala) c.6082C>G (p.Pro2028Ala) c.5290C>G (p.Pro1764Ala) c.8452C>G (p.Pro2818Ala) | |
8 | g.60865394C>T | CA371309584 | CHD7 | n.1631C>T n.562C>T c.*1514C>T (n.*1514C>T) c.8455C>T (p.Pro2819Ser) c.2308C>T (p.Pro770Ser) n.501C>T c.8545C>T (p.Pro2849Ser) c.8542C>T (p.Pro2848Ser) c.8323C>T (p.Pro2775Ser) c.6532C>T (p.Pro2178Ser) c.6082C>T (p.Pro2028Ser) c.5290C>T (p.Pro1764Ser) c.8452C>T (p.Pro2818Ser) | gnomAD v4 COSMIC |
8 | g.60865394_60865396delinsCCT | CA1788130256 | CHD7 | n.1631_1633delinsCCT n.562_564delinsCCT c.*1514_*1516delinsCCT (n.*1514_*1516delinsCCT) c.8455_8457delinsCCT (p.Pro2819=) c.2308_2310delinsCCT (p.Pro770=) n.501_503delinsCCT c.8545_8547delinsCCT (p.Pro2849=) c.8542_8544delinsCCT (p.Pro2848=) c.8323_8325delinsCCT (p.Pro2775=) c.6532_6534delinsCCT (p.Pro2178=) c.6082_6084delinsCCT (p.Pro2028=) c.5290_5292delinsCCT (p.Pro1764=) c.8452_8454delinsCCT (p.Pro2818=) | |
8 | g.60865395C>A | CA371309591 | CHD7 | n.1632C>A n.563C>A c.*1515C>A (n.*1515C>A) c.8456C>A (p.Pro2819His) c.2309C>A (p.Pro770His) n.502C>A c.8546C>A (p.Pro2849His) c.8543C>A (p.Pro2848His) c.8324C>A (p.Pro2775His) c.6533C>A (p.Pro2178His) c.6083C>A (p.Pro2028His) c.5291C>A (p.Pro1764His) c.8453C>A (p.Pro2818His) | |
8 | g.60865395C>G | CA371309594 | CHD7 | n.1632C>G n.563C>G c.*1515C>G (n.*1515C>G) c.8456C>G (p.Pro2819Arg) c.2309C>G (p.Pro770Arg) n.502C>G c.8546C>G (p.Pro2849Arg) c.8543C>G (p.Pro2848Arg) c.8324C>G (p.Pro2775Arg) c.6533C>G (p.Pro2178Arg) c.6083C>G (p.Pro2028Arg) c.5291C>G (p.Pro1764Arg) c.8453C>G (p.Pro2818Arg) | gnomAD v4 |
8 | g.60865395C>T | CA371309603 | CHD7 | n.1632C>T n.563C>T c.*1515C>T (n.*1515C>T) c.8456C>T (p.Pro2819Leu) c.2309C>T (p.Pro770Leu) n.502C>T c.8546C>T (p.Pro2849Leu) c.8543C>T (p.Pro2848Leu) c.8324C>T (p.Pro2775Leu) c.6533C>T (p.Pro2178Leu) c.6083C>T (p.Pro2028Leu) c.5291C>T (p.Pro1764Leu) c.8453C>T (p.Pro2818Leu) | |
8 | g.60865397_60865398dup | CA2695203183 | CHD7 | n.1634_1635dup n.565_566dup c.*1517_*1518dup (n.*1517_*1518dup) c.8458_8459dup (p.Ser2821CysfsTer?) c.2311_2312dup (p.Ser772CysfsTer?) n.504_505dup c.8548_8549dup (p.Ser2851CysfsTer?) c.8545_8546dup (p.Ser2850CysfsTer?) c.8326_8327dup (p.Ser2777CysfsTer?) c.6535_6536dup (p.Ser2180CysfsTer?) c.6085_6086dup (p.Ser2030CysfsTer?) c.5293_5294dup (p.Ser1766CysfsTer?) c.8455_8456dup (p.Ser2820CysfsTer?) | |
8 | g.60865397_60865398del | CA10602479 | CHD7 | n.1634_1635del n.565_566del c.*1517_*1518del (n.*1517_*1518del) c.8458_8459del (p.Leu2820ValfsTer12) c.2311_2312del (p.Leu771ValfsTer12) n.504_505del c.8548_8549del (p.Leu2850ValfsTer12) c.8545_8546del (p.Leu2849ValfsTer12) c.8326_8327del (p.Leu2776ValfsTer12) c.6535_6536del (p.Leu2179ValfsTer12) c.6085_6086del (p.Leu2029ValfsTer12) c.5293_5294del (p.Leu1765ValfsTer12) c.8455_8456del (p.Leu2819ValfsTer12) | ClinVar dbSNP |
8 | g.60865396T>A | CA461106058 | CHD7 | n.1633T>A n.564T>A c.*1516T>A (n.*1516T>A) c.8457T>A (p.Pro2819=) c.2310T>A (p.Pro770=) n.503T>A c.8547T>A (p.Pro2849=) c.8544T>A (p.Pro2848=) c.8325T>A (p.Pro2775=) c.6534T>A (p.Pro2178=) c.6084T>A (p.Pro2028=) c.5292T>A (p.Pro1764=) c.8454T>A (p.Pro2818=) | |
8 | g.60865396T>C | CA461106059 | CHD7 | n.1633T>C n.564T>C c.*1516T>C (n.*1516T>C) c.8457T>C (p.Pro2819=) c.2310T>C (p.Pro770=) n.503T>C c.8547T>C (p.Pro2849=) c.8544T>C (p.Pro2848=) c.8325T>C (p.Pro2775=) c.6534T>C (p.Pro2178=) c.6084T>C (p.Pro2028=) c.5292T>C (p.Pro1764=) c.8454T>C (p.Pro2818=) | |
8 | g.60865396T>G | CA461106060 | CHD7 | n.1633T>G n.564T>G c.*1516T>G (n.*1516T>G) c.8457T>G (p.Pro2819=) c.2310T>G (p.Pro770=) n.503T>G c.8547T>G (p.Pro2849=) c.8544T>G (p.Pro2848=) c.8325T>G (p.Pro2775=) c.6534T>G (p.Pro2178=) c.6084T>G (p.Pro2028=) c.5292T>G (p.Pro1764=) c.8454T>G (p.Pro2818=) | |
8 | g.60865397C>A | CA371309609 | CHD7 | n.1634C>A n.565C>A c.*1517C>A (n.*1517C>A) c.8458C>A (p.Leu2820Met) c.2311C>A (p.Leu771Met) n.504C>A c.8548C>A (p.Leu2850Met) c.8545C>A (p.Leu2849Met) c.8326C>A (p.Leu2776Met) c.6535C>A (p.Leu2179Met) c.6085C>A (p.Leu2029Met) c.5293C>A (p.Leu1765Met) c.8455C>A (p.Leu2819Met) | |
8 | g.60865397C= | CA1788130270 | CHD7 | n.1634C= n.565C= c.*1517C= (n.*1517C=) c.8458C= (p.Leu2820=) c.2311C= (p.Leu771=) n.504C= c.8548C= (p.Leu2850=) c.8545C= (p.Leu2849=) c.8326C= (p.Leu2776=) c.6535C= (p.Leu2179=) c.6085C= (p.Leu2029=) c.5293C= (p.Leu1765=) c.8455C= (p.Leu2819=) | |
8 | g.60865397C>G | CA371309613 | CHD7 | n.1634C>G n.565C>G c.*1517C>G (n.*1517C>G) c.8458C>G (p.Leu2820Val) c.2311C>G (p.Leu771Val) n.504C>G c.8548C>G (p.Leu2850Val) c.8545C>G (p.Leu2849Val) c.8326C>G (p.Leu2776Val) c.6535C>G (p.Leu2179Val) c.6085C>G (p.Leu2029Val) c.5293C>G (p.Leu1765Val) c.8455C>G (p.Leu2819Val) | |
8 | g.60865397C>T | CA461106061 | CHD7 | n.1634C>T n.565C>T c.*1517C>T (n.*1517C>T) c.8458C>T (p.Leu2820=) c.2311C>T (p.Leu771=) n.504C>T c.8548C>T (p.Leu2850=) c.8545C>T (p.Leu2849=) c.8326C>T (p.Leu2776=) c.6535C>T (p.Leu2179=) c.6085C>T (p.Leu2029=) c.5293C>T (p.Leu1765=) c.8455C>T (p.Leu2819=) | dbSNP |
8 | g.60865398T>A | CA371309627 | CHD7 | n.1635T>A n.566T>A c.*1518T>A (n.*1518T>A) c.8459T>A (p.Leu2820Gln) c.2312T>A (p.Leu771Gln) n.505T>A c.8549T>A (p.Leu2850Gln) c.8546T>A (p.Leu2849Gln) c.8327T>A (p.Leu2776Gln) c.6536T>A (p.Leu2179Gln) c.6086T>A (p.Leu2029Gln) c.5294T>A (p.Leu1765Gln) c.8456T>A (p.Leu2819Gln) | |
8 | g.60865398T>C | CA371309624 | CHD7 | n.1635T>C n.566T>C c.*1518T>C (n.*1518T>C) c.8459T>C (p.Leu2820Pro) c.2312T>C (p.Leu771Pro) n.505T>C c.8549T>C (p.Leu2850Pro) c.8546T>C (p.Leu2849Pro) c.8327T>C (p.Leu2776Pro) c.6536T>C (p.Leu2179Pro) c.6086T>C (p.Leu2029Pro) c.5294T>C (p.Leu1765Pro) c.8456T>C (p.Leu2819Pro) | gnomAD v4 |
8 | g.60865398T>G | CA371309618 | CHD7 | n.1635T>G n.566T>G c.*1518T>G (n.*1518T>G) c.8459T>G (p.Leu2820Arg) c.2312T>G (p.Leu771Arg) n.505T>G c.8549T>G (p.Leu2850Arg) c.8546T>G (p.Leu2849Arg) c.8327T>G (p.Leu2776Arg) c.6536T>G (p.Leu2179Arg) c.6086T>G (p.Leu2029Arg) c.5294T>G (p.Leu1765Arg) c.8456T>G (p.Leu2819Arg) | |
8 | g.60865399_60865400dup | CA2695203184 | CHD7 | n.1636_1637dup n.567_568dup c.*1519_*1520dup (n.*1519_*1520dup) c.8460_8461dup (p.Ser2821CysfsTer?) c.2313_2314dup (p.Ser772CysfsTer?) n.506_507dup c.8550_8551dup (p.Ser2851CysfsTer?) c.8547_8548dup (p.Ser2850CysfsTer?) c.8328_8329dup (p.Ser2777CysfsTer?) c.6537_6538dup (p.Ser2180CysfsTer?) c.6087_6088dup (p.Ser2030CysfsTer?) c.5295_5296dup (p.Ser1766CysfsTer?) c.8457_8458dup (p.Ser2820CysfsTer?) | |
8 | g.60865399G>A | CA461106063 | CHD7 | n.1636G>A n.567G>A c.*1519G>A (n.*1519G>A) c.8460G>A (p.Leu2820=) c.2313G>A (p.Leu771=) n.506G>A c.8550G>A (p.Leu2850=) c.8547G>A (p.Leu2849=) c.8328G>A (p.Leu2776=) c.6537G>A (p.Leu2179=) c.6087G>A (p.Leu2029=) c.5295G>A (p.Leu1765=) c.8457G>A (p.Leu2819=) | |
8 | g.60865399G>C | CA461106065 | CHD7 | n.1636G>C n.567G>C c.*1519G>C (n.*1519G>C) c.8460G>C (p.Leu2820=) c.2313G>C (p.Leu771=) n.506G>C c.8550G>C (p.Leu2850=) c.8547G>C (p.Leu2849=) c.8328G>C (p.Leu2776=) c.6537G>C (p.Leu2179=) c.6087G>C (p.Leu2029=) c.5295G>C (p.Leu1765=) c.8457G>C (p.Leu2819=) | |
8 | g.60865399G>T | CA461106067 | CHD7 | n.1636G>T n.567G>T c.*1519G>T (n.*1519G>T) c.8460G>T (p.Leu2820=) c.2313G>T (p.Leu771=) n.506G>T c.8550G>T (p.Leu2850=) c.8547G>T (p.Leu2849=) c.8328G>T (p.Leu2776=) c.6537G>T (p.Leu2179=) c.6087G>T (p.Leu2029=) c.5295G>T (p.Leu1765=) c.8457G>T (p.Leu2819=) | |
8 | g.60865400T>A | CA371309634 | CHD7 | n.1637T>A n.568T>A c.*1520T>A (n.*1520T>A) c.8461T>A (p.Ser2821Thr) c.2314T>A (p.Ser772Thr) n.507T>A c.8551T>A (p.Ser2851Thr) c.8548T>A (p.Ser2850Thr) c.8329T>A (p.Ser2777Thr) c.6538T>A (p.Ser2180Thr) c.6088T>A (p.Ser2030Thr) c.5296T>A (p.Ser1766Thr) c.8458T>A (p.Ser2820Thr) | |
8 | g.60865400T>C | CA371309636 | CHD7 | n.1637T>C n.568T>C c.*1520T>C (n.*1520T>C) c.8461T>C (p.Ser2821Pro) c.2314T>C (p.Ser772Pro) n.507T>C c.8551T>C (p.Ser2851Pro) c.8548T>C (p.Ser2850Pro) c.8329T>C (p.Ser2777Pro) c.6538T>C (p.Ser2180Pro) c.6088T>C (p.Ser2030Pro) c.5296T>C (p.Ser1766Pro) c.8458T>C (p.Ser2820Pro) | |
8 | g.60865400T>G | CA371309642 | CHD7 | n.1637T>G n.568T>G c.*1520T>G (n.*1520T>G) c.8461T>G (p.Ser2821Ala) c.2314T>G (p.Ser772Ala) n.507T>G c.8551T>G (p.Ser2851Ala) c.8548T>G (p.Ser2850Ala) c.8329T>G (p.Ser2777Ala) c.6538T>G (p.Ser2180Ala) c.6088T>G (p.Ser2030Ala) c.5296T>G (p.Ser1766Ala) c.8458T>G (p.Ser2820Ala) | |
8 | g.60865401C>A | CA371309646 | CHD7 | n.1638C>A n.569C>A c.*1521C>A (n.*1521C>A) c.8462C>A (p.Ser2821Ter) c.2315C>A (p.Ser772Ter) n.508C>A c.8552C>A (p.Ser2851Ter) c.8549C>A (p.Ser2850Ter) c.8330C>A (p.Ser2777Ter) c.6539C>A (p.Ser2180Ter) c.6089C>A (p.Ser2030Ter) c.5297C>A (p.Ser1766Ter) c.8459C>A (p.Ser2820Ter) | |
8 | g.60865401C>G | CA371309650 | CHD7 | n.1638C>G n.569C>G c.*1521C>G (n.*1521C>G) c.8462C>G (p.Ser2821Ter) c.2315C>G (p.Ser772Ter) n.508C>G c.8552C>G (p.Ser2851Ter) c.8549C>G (p.Ser2850Ter) c.8330C>G (p.Ser2777Ter) c.6539C>G (p.Ser2180Ter) c.6089C>G (p.Ser2030Ter) c.5297C>G (p.Ser1766Ter) c.8459C>G (p.Ser2820Ter) | |
8 | g.60865401C>T | CA371309651 | CHD7 | n.1638C>T n.569C>T c.*1521C>T (n.*1521C>T) c.8462C>T (p.Ser2821Leu) c.2315C>T (p.Ser772Leu) n.508C>T c.8552C>T (p.Ser2851Leu) c.8549C>T (p.Ser2850Leu) c.8330C>T (p.Ser2777Leu) c.6539C>T (p.Ser2180Leu) c.6089C>T (p.Ser2030Leu) c.5297C>T (p.Ser1766Leu) c.8459C>T (p.Ser2820Leu) | |
8 | g.60865402A>C | CA461106068 | CHD7 | n.1639A>C n.570A>C c.*1522A>C (n.*1522A>C) c.8463A>C (p.Ser2821=) c.2316A>C (p.Ser772=) n.509A>C c.8553A>C (p.Ser2851=) c.8550A>C (p.Ser2850=) c.8331A>C (p.Ser2777=) c.6540A>C (p.Ser2180=) c.6090A>C (p.Ser2030=) c.5298A>C (p.Ser1766=) c.8460A>C (p.Ser2820=) | |
8 | g.60865402A>G | CA461106069 | CHD7 | n.1639A>G n.570A>G c.*1522A>G (n.*1522A>G) c.8463A>G (p.Ser2821=) c.2316A>G (p.Ser772=) n.509A>G c.8553A>G (p.Ser2851=) c.8550A>G (p.Ser2850=) c.8331A>G (p.Ser2777=) c.6540A>G (p.Ser2180=) c.6090A>G (p.Ser2030=) c.5298A>G (p.Ser1766=) c.8460A>G (p.Ser2820=) | |
8 | g.60865402A>T | CA461106070 | CHD7 | n.1639A>T n.570A>T c.*1522A>T (n.*1522A>T) c.8463A>T (p.Ser2821=) c.2316A>T (p.Ser772=) n.509A>T c.8553A>T (p.Ser2851=) c.8550A>T (p.Ser2850=) c.8331A>T (p.Ser2777=) c.6540A>T (p.Ser2180=) c.6090A>T (p.Ser2030=) c.5298A>T (p.Ser1766=) c.8460A>T (p.Ser2820=) | |
8 | g.60865403G>A | CA371309652 | CHD7 | n.1640G>A n.571G>A c.*1523G>A (n.*1523G>A) c.8464G>A (p.Ala2822Thr) c.2317G>A (p.Ala773Thr) n.510G>A c.8554G>A (p.Ala2852Thr) c.8551G>A (p.Ala2851Thr) c.8332G>A (p.Ala2778Thr) c.6541G>A (p.Ala2181Thr) c.6091G>A (p.Ala2031Thr) c.5299G>A (p.Ala1767Thr) c.8461G>A (p.Ala2821Thr) | dbSNP gnomAD v4 |
8 | g.60865403G>C | CA371309655 | CHD7 | n.1640G>C n.571G>C c.*1523G>C (n.*1523G>C) c.8464G>C (p.Ala2822Pro) c.2317G>C (p.Ala773Pro) n.510G>C c.8554G>C (p.Ala2852Pro) c.8551G>C (p.Ala2851Pro) c.8332G>C (p.Ala2778Pro) c.6541G>C (p.Ala2181Pro) c.6091G>C (p.Ala2031Pro) c.5299G>C (p.Ala1767Pro) c.8461G>C (p.Ala2821Pro) | gnomAD v4 |
8 | g.60865403G= | CA1788130275 | CHD7 | n.1640G= n.571G= c.*1523G= (n.*1523G=) c.8464G= (p.Ala2822=) c.2317G= (p.Ala773=) n.510G= c.8554G= (p.Ala2852=) c.8551G= (p.Ala2851=) c.8332G= (p.Ala2778=) c.6541G= (p.Ala2181=) c.6091G= (p.Ala2031=) c.5299G= (p.Ala1767=) c.8461G= (p.Ala2821=) | |
8 | g.60865403G>T | CA371309659 | CHD7 | n.1640G>T n.571G>T c.*1523G>T (n.*1523G>T) c.8464G>T (p.Ala2822Ser) c.2317G>T (p.Ala773Ser) n.510G>T c.8554G>T (p.Ala2852Ser) c.8551G>T (p.Ala2851Ser) c.8332G>T (p.Ala2778Ser) c.6541G>T (p.Ala2181Ser) c.6091G>T (p.Ala2031Ser) c.5299G>T (p.Ala1767Ser) c.8461G>T (p.Ala2821Ser) | |
8 | g.60865404C>A | CA371309663 | CHD7 | n.1641C>A n.572C>A c.*1524C>A (n.*1524C>A) c.8465C>A (p.Ala2822Asp) c.2318C>A (p.Ala773Asp) n.511C>A c.8555C>A (p.Ala2852Asp) c.8552C>A (p.Ala2851Asp) c.8333C>A (p.Ala2778Asp) c.6542C>A (p.Ala2181Asp) c.6092C>A (p.Ala2031Asp) c.5300C>A (p.Ala1767Asp) c.8462C>A (p.Ala2821Asp) | |
8 | g.60865404C= | CA1788130299 | CHD7 | n.1641C= n.572C= c.*1524C= (n.*1524C=) c.8465C= (p.Ala2822=) c.2318C= (p.Ala773=) n.511C= c.8555C= (p.Ala2852=) c.8552C= (p.Ala2851=) c.8333C= (p.Ala2778=) c.6542C= (p.Ala2181=) c.6092C= (p.Ala2031=) c.5300C= (p.Ala1767=) c.8462C= (p.Ala2821=) | |
8 | g.60865404C>G | CA371309666 | CHD7 | n.1641C>G n.572C>G c.*1524C>G (n.*1524C>G) c.8465C>G (p.Ala2822Gly) c.2318C>G (p.Ala773Gly) n.511C>G c.8555C>G (p.Ala2852Gly) c.8552C>G (p.Ala2851Gly) c.8333C>G (p.Ala2778Gly) c.6542C>G (p.Ala2181Gly) c.6092C>G (p.Ala2031Gly) c.5300C>G (p.Ala1767Gly) c.8462C>G (p.Ala2821Gly) | dbSNP |
8 | g.60865404C>T | CA371309669 | CHD7 | n.1641C>T n.572C>T c.*1524C>T (n.*1524C>T) c.8465C>T (p.Ala2822Val) c.2318C>T (p.Ala773Val) n.511C>T c.8555C>T (p.Ala2852Val) c.8552C>T (p.Ala2851Val) c.8333C>T (p.Ala2778Val) c.6542C>T (p.Ala2181Val) c.6092C>T (p.Ala2031Val) c.5300C>T (p.Ala1767Val) c.8462C>T (p.Ala2821Val) | |
8 | g.60865405T>A | CA461106072 | CHD7 | n.1642T>A n.573T>A c.*1525T>A (n.*1525T>A) c.8466T>A (p.Ala2822=) c.2319T>A (p.Ala773=) n.512T>A c.8556T>A (p.Ala2852=) c.8553T>A (p.Ala2851=) c.8334T>A (p.Ala2778=) c.6543T>A (p.Ala2181=) c.6093T>A (p.Ala2031=) c.5301T>A (p.Ala1767=) c.8463T>A (p.Ala2821=) | |
8 | g.60865405T>C | CA461106075 | CHD7 | n.1642T>C n.573T>C c.*1525T>C (n.*1525T>C) c.8466T>C (p.Ala2822=) c.2319T>C (p.Ala773=) n.512T>C c.8556T>C (p.Ala2852=) c.8553T>C (p.Ala2851=) c.8334T>C (p.Ala2778=) c.6543T>C (p.Ala2181=) c.6093T>C (p.Ala2031=) c.5301T>C (p.Ala1767=) c.8463T>C (p.Ala2821=) | |
8 | g.60865405T>G | CA461106078 | CHD7 | n.1642T>G n.573T>G c.*1525T>G (n.*1525T>G) c.8466T>G (p.Ala2822=) c.2319T>G (p.Ala773=) n.512T>G c.8556T>G (p.Ala2852=) c.8553T>G (p.Ala2851=) c.8334T>G (p.Ala2778=) c.6543T>G (p.Ala2181=) c.6093T>G (p.Ala2031=) c.5301T>G (p.Ala1767=) c.8463T>G (p.Ala2821=) | dbSNP |
8 | g.60865405T= | CA1788130307 | CHD7 | n.1642T= n.573T= c.*1525T= (n.*1525T=) c.8466T= (p.Ala2822=) c.2319T= (p.Ala773=) n.512T= c.8556T= (p.Ala2852=) c.8553T= (p.Ala2851=) c.8334T= (p.Ala2778=) c.6543T= (p.Ala2181=) c.6093T= (p.Ala2031=) c.5301T= (p.Ala1767=) c.8463T= (p.Ala2821=) | |
8 | g.60865406G>A | CA371309682 | CHD7 | n.1643G>A n.574G>A c.*1526G>A (n.*1526G>A) c.8467G>A (p.Ala2823Thr) c.2320G>A (p.Ala774Thr) n.513G>A c.8557G>A (p.Ala2853Thr) c.8554G>A (p.Ala2852Thr) c.8335G>A (p.Ala2779Thr) c.6544G>A (p.Ala2182Thr) c.6094G>A (p.Ala2032Thr) c.5302G>A (p.Ala1768Thr) c.8464G>A (p.Ala2822Thr) | |
8 | g.60865406G>C | CA371309677 | CHD7 | n.1643G>C n.574G>C c.*1526G>C (n.*1526G>C) c.8467G>C (p.Ala2823Pro) c.2320G>C (p.Ala774Pro) n.513G>C c.8557G>C (p.Ala2853Pro) c.8554G>C (p.Ala2852Pro) c.8335G>C (p.Ala2779Pro) c.6544G>C (p.Ala2182Pro) c.6094G>C (p.Ala2032Pro) c.5302G>C (p.Ala1768Pro) c.8464G>C (p.Ala2822Pro) | |
8 | g.60865406G>T | CA371309681 | CHD7 | n.1643G>T n.574G>T c.*1526G>T (n.*1526G>T) c.8467G>T (p.Ala2823Ser) c.2320G>T (p.Ala774Ser) n.513G>T c.8557G>T (p.Ala2853Ser) c.8554G>T (p.Ala2852Ser) c.8335G>T (p.Ala2779Ser) c.6544G>T (p.Ala2182Ser) c.6094G>T (p.Ala2032Ser) c.5302G>T (p.Ala1768Ser) c.8464G>T (p.Ala2822Ser) | ClinVar gnomAD v4 |
8 | g.60865407C>A | CA371309683 | CHD7 | n.1644C>A n.575C>A c.*1527C>A (n.*1527C>A) c.8468C>A (p.Ala2823Asp) c.2321C>A (p.Ala774Asp) n.514C>A c.8558C>A (p.Ala2853Asp) c.8555C>A (p.Ala2852Asp) c.8336C>A (p.Ala2779Asp) c.6545C>A (p.Ala2182Asp) c.6095C>A (p.Ala2032Asp) c.5303C>A (p.Ala1768Asp) c.8465C>A (p.Ala2822Asp) | |
8 | g.60865407C>G | CA371309685 | CHD7 | n.1644C>G n.575C>G c.*1527C>G (n.*1527C>G) c.8468C>G (p.Ala2823Gly) c.2321C>G (p.Ala774Gly) n.514C>G c.8558C>G (p.Ala2853Gly) c.8555C>G (p.Ala2852Gly) c.8336C>G (p.Ala2779Gly) c.6545C>G (p.Ala2182Gly) c.6095C>G (p.Ala2032Gly) c.5303C>G (p.Ala1768Gly) c.8465C>G (p.Ala2822Gly) | |
8 | g.60865407C>T | CA371309688 | CHD7 | n.1644C>T n.575C>T c.*1527C>T (n.*1527C>T) c.8468C>T (p.Ala2823Val) c.2321C>T (p.Ala774Val) n.514C>T c.8558C>T (p.Ala2853Val) c.8555C>T (p.Ala2852Val) c.8336C>T (p.Ala2779Val) c.6545C>T (p.Ala2182Val) c.6095C>T (p.Ala2032Val) c.5303C>T (p.Ala1768Val) c.8465C>T (p.Ala2822Val) | |
8 | g.60865408T>A | CA461106082 | CHD7 | n.1645T>A n.576T>A c.*1528T>A (n.*1528T>A) c.8469T>A (p.Ala2823=) c.2322T>A (p.Ala774=) n.515T>A c.8559T>A (p.Ala2853=) c.8556T>A (p.Ala2852=) c.8337T>A (p.Ala2779=) c.6546T>A (p.Ala2182=) c.6096T>A (p.Ala2032=) c.5304T>A (p.Ala1768=) c.8466T>A (p.Ala2822=) | |
8 | g.60865408T>C | CA461106083 | CHD7 | n.1645T>C n.576T>C c.*1528T>C (n.*1528T>C) c.8469T>C (p.Ala2823=) c.2322T>C (p.Ala774=) n.515T>C c.8559T>C (p.Ala2853=) c.8556T>C (p.Ala2852=) c.8337T>C (p.Ala2779=) c.6546T>C (p.Ala2182=) c.6096T>C (p.Ala2032=) c.5304T>C (p.Ala1768=) c.8466T>C (p.Ala2822=) | |
8 | g.60865408T>G | CA461106084 | CHD7 | n.1645T>G n.576T>G c.*1528T>G (n.*1528T>G) c.8469T>G (p.Ala2823=) c.2322T>G (p.Ala774=) n.515T>G c.8559T>G (p.Ala2853=) c.8556T>G (p.Ala2852=) c.8337T>G (p.Ala2779=) c.6546T>G (p.Ala2182=) c.6096T>G (p.Ala2032=) c.5304T>G (p.Ala1768=) c.8466T>G (p.Ala2822=) | |
8 | g.60865409A= | CA1788130314 | CHD7 | n.1646A= n.577A= c.*1529A= (n.*1529A=) c.8470A= (p.Thr2824=) c.2323A= (p.Thr775=) n.516A= c.8560A= (p.Thr2854=) c.8557A= (p.Thr2853=) c.8338A= (p.Thr2780=) c.6547A= (p.Thr2183=) c.6097A= (p.Thr2033=) c.5305A= (p.Thr1769=) c.8467A= (p.Thr2823=) | |
8 | g.60865409A>C | CA371309689 | CHD7 | n.1646A>C n.577A>C c.*1529A>C (n.*1529A>C) c.8470A>C (p.Thr2824Pro) c.2323A>C (p.Thr775Pro) n.516A>C c.8560A>C (p.Thr2854Pro) c.8557A>C (p.Thr2853Pro) c.8338A>C (p.Thr2780Pro) c.6547A>C (p.Thr2183Pro) c.6097A>C (p.Thr2033Pro) c.5305A>C (p.Thr1769Pro) c.8467A>C (p.Thr2823Pro) | ClinVar |
8 | g.60865409A>G | CA371309690 | CHD7 | n.1646A>G n.577A>G c.*1529A>G (n.*1529A>G) c.8470A>G (p.Thr2824Ala) c.2323A>G (p.Thr775Ala) n.516A>G c.8560A>G (p.Thr2854Ala) c.8557A>G (p.Thr2853Ala) c.8338A>G (p.Thr2780Ala) c.6547A>G (p.Thr2183Ala) c.6097A>G (p.Thr2033Ala) c.5305A>G (p.Thr1769Ala) c.8467A>G (p.Thr2823Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865409A>T | CA371309693 | CHD7 | n.1646A>T n.577A>T c.*1529A>T (n.*1529A>T) c.8470A>T (p.Thr2824Ser) c.2323A>T (p.Thr775Ser) n.516A>T c.8560A>T (p.Thr2854Ser) c.8557A>T (p.Thr2853Ser) c.8338A>T (p.Thr2780Ser) c.6547A>T (p.Thr2183Ser) c.6097A>T (p.Thr2033Ser) c.5305A>T (p.Thr1769Ser) c.8467A>T (p.Thr2823Ser) | |
8 | g.60865410C>A | CA371309703 | CHD7 | n.1647C>A n.578C>A c.*1530C>A (n.*1530C>A) c.8471C>A (p.Thr2824Asn) c.2324C>A (p.Thr775Asn) n.517C>A c.8561C>A (p.Thr2854Asn) c.8558C>A (p.Thr2853Asn) c.8339C>A (p.Thr2780Asn) c.6548C>A (p.Thr2183Asn) c.6098C>A (p.Thr2033Asn) c.5306C>A (p.Thr1769Asn) c.8468C>A (p.Thr2823Asn) | |
8 | g.60865410C>G | CA371309708 | CHD7 | n.1647C>G n.578C>G c.*1530C>G (n.*1530C>G) c.8471C>G (p.Thr2824Ser) c.2324C>G (p.Thr775Ser) n.517C>G c.8561C>G (p.Thr2854Ser) c.8558C>G (p.Thr2853Ser) c.8339C>G (p.Thr2780Ser) c.6548C>G (p.Thr2183Ser) c.6098C>G (p.Thr2033Ser) c.5306C>G (p.Thr1769Ser) c.8468C>G (p.Thr2823Ser) | gnomAD v4 |
8 | g.60865410C>T | CA371309721 | CHD7 | n.1647C>T n.578C>T c.*1530C>T (n.*1530C>T) c.8471C>T (p.Thr2824Ile) c.2324C>T (p.Thr775Ile) n.517C>T c.8561C>T (p.Thr2854Ile) c.8558C>T (p.Thr2853Ile) c.8339C>T (p.Thr2780Ile) c.6548C>T (p.Thr2183Ile) c.6098C>T (p.Thr2033Ile) c.5306C>T (p.Thr1769Ile) c.8468C>T (p.Thr2823Ile) | |
8 | g.60865411T>A | CA461106086 | CHD7 | n.1648T>A n.579T>A c.*1531T>A (n.*1531T>A) c.8472T>A (p.Thr2824=) c.2325T>A (p.Thr775=) n.518T>A c.8562T>A (p.Thr2854=) c.8559T>A (p.Thr2853=) c.8340T>A (p.Thr2780=) c.6549T>A (p.Thr2183=) c.6099T>A (p.Thr2033=) c.5307T>A (p.Thr1769=) c.8469T>A (p.Thr2823=) | |
8 | g.60865411T>C | CA461106087 | CHD7 | n.1648T>C n.579T>C c.*1531T>C (n.*1531T>C) c.8472T>C (p.Thr2824=) c.2325T>C (p.Thr775=) n.518T>C c.8562T>C (p.Thr2854=) c.8559T>C (p.Thr2853=) c.8340T>C (p.Thr2780=) c.6549T>C (p.Thr2183=) c.6099T>C (p.Thr2033=) c.5307T>C (p.Thr1769=) c.8469T>C (p.Thr2823=) | |
8 | g.60865411T>G | CA461106088 | CHD7 | n.1648T>G n.579T>G c.*1531T>G (n.*1531T>G) c.8472T>G (p.Thr2824=) c.2325T>G (p.Thr775=) n.518T>G c.8562T>G (p.Thr2854=) c.8559T>G (p.Thr2853=) c.8340T>G (p.Thr2780=) c.6549T>G (p.Thr2183=) c.6099T>G (p.Thr2033=) c.5307T>G (p.Thr1769=) c.8469T>G (p.Thr2823=) | |
8 | g.60865412G>A | CA371309732 | CHD7 | n.1649G>A n.580G>A c.*1532G>A (n.*1532G>A) c.8473G>A (p.Gly2825Arg) c.2326G>A (p.Gly776Arg) n.519G>A c.8563G>A (p.Gly2855Arg) c.8560G>A (p.Gly2854Arg) c.8341G>A (p.Gly2781Arg) c.6550G>A (p.Gly2184Arg) c.6100G>A (p.Gly2034Arg) c.5308G>A (p.Gly1770Arg) c.8470G>A (p.Gly2824Arg) | |
8 | g.60865412G>C | CA371309738 | CHD7 | n.1649G>C n.580G>C c.*1532G>C (n.*1532G>C) c.8473G>C (p.Gly2825Arg) c.2326G>C (p.Gly776Arg) n.519G>C c.8563G>C (p.Gly2855Arg) c.8560G>C (p.Gly2854Arg) c.8341G>C (p.Gly2781Arg) c.6550G>C (p.Gly2184Arg) c.6100G>C (p.Gly2034Arg) c.5308G>C (p.Gly1770Arg) c.8470G>C (p.Gly2824Arg) | |
8 | g.60865412G>T | CA371309742 | CHD7 | n.1649G>T n.580G>T c.*1532G>T (n.*1532G>T) c.8473G>T (p.Gly2825Ter) c.2326G>T (p.Gly776Ter) n.519G>T c.8563G>T (p.Gly2855Ter) c.8560G>T (p.Gly2854Ter) c.8341G>T (p.Gly2781Ter) c.6550G>T (p.Gly2184Ter) c.6100G>T (p.Gly2034Ter) c.5308G>T (p.Gly1770Ter) c.8470G>T (p.Gly2824Ter) | |
8 | g.60865413G>A | CA371309753 | CHD7 | n.1650G>A n.581G>A c.*1533G>A (n.*1533G>A) c.8474G>A (p.Gly2825Glu) c.2327G>A (p.Gly776Glu) n.520G>A c.8564G>A (p.Gly2855Glu) c.8561G>A (p.Gly2854Glu) c.8342G>A (p.Gly2781Glu) c.6551G>A (p.Gly2184Glu) c.6101G>A (p.Gly2034Glu) c.5309G>A (p.Gly1770Glu) c.8471G>A (p.Gly2824Glu) | |
8 | g.60865413G>C | CA371309757 | CHD7 | n.1650G>C n.581G>C c.*1533G>C (n.*1533G>C) c.8474G>C (p.Gly2825Ala) c.2327G>C (p.Gly776Ala) n.520G>C c.8564G>C (p.Gly2855Ala) c.8561G>C (p.Gly2854Ala) c.8342G>C (p.Gly2781Ala) c.6551G>C (p.Gly2184Ala) c.6101G>C (p.Gly2034Ala) c.5309G>C (p.Gly1770Ala) c.8471G>C (p.Gly2824Ala) | |
8 | g.60865413G= | CA1788130322 | CHD7 | n.1650G= n.581G= c.*1533G= (n.*1533G=) c.8474G= (p.Gly2825=) c.2327G= (p.Gly776=) n.520G= c.8564G= (p.Gly2855=) c.8561G= (p.Gly2854=) c.8342G= (p.Gly2781=) c.6551G= (p.Gly2184=) c.6101G= (p.Gly2034=) c.5309G= (p.Gly1770=) c.8471G= (p.Gly2824=) | |
8 | g.60865413G>T | CA4761020 | CHD7 | n.1650G>T n.581G>T c.*1533G>T (n.*1533G>T) c.8474G>T (p.Gly2825Val) c.2327G>T (p.Gly776Val) n.520G>T c.8564G>T (p.Gly2855Val) c.8561G>T (p.Gly2854Val) c.8342G>T (p.Gly2781Val) c.6551G>T (p.Gly2184Val) c.6101G>T (p.Gly2034Val) c.5309G>T (p.Gly1770Val) c.8471G>T (p.Gly2824Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865414A>C | CA461106099 | CHD7 | n.1651A>C n.582A>C c.*1534A>C (n.*1534A>C) c.8475A>C (p.Gly2825=) c.2328A>C (p.Gly776=) n.521A>C c.8565A>C (p.Gly2855=) c.8562A>C (p.Gly2854=) c.8343A>C (p.Gly2781=) c.6552A>C (p.Gly2184=) c.6102A>C (p.Gly2034=) c.5310A>C (p.Gly1770=) c.8472A>C (p.Gly2824=) | gnomAD v4 |
8 | g.60865414A>G | CA461106098 | CHD7 | n.1651A>G n.582A>G c.*1534A>G (n.*1534A>G) c.8475A>G (p.Gly2825=) c.2328A>G (p.Gly776=) n.521A>G c.8565A>G (p.Gly2855=) c.8562A>G (p.Gly2854=) c.8343A>G (p.Gly2781=) c.6552A>G (p.Gly2184=) c.6102A>G (p.Gly2034=) c.5310A>G (p.Gly1770=) c.8472A>G (p.Gly2824=) | |
8 | g.60865414A>T | CA461106097 | CHD7 | n.1651A>T n.582A>T c.*1534A>T (n.*1534A>T) c.8475A>T (p.Gly2825=) c.2328A>T (p.Gly776=) n.521A>T c.8565A>T (p.Gly2855=) c.8562A>T (p.Gly2854=) c.8343A>T (p.Gly2781=) c.6552A>T (p.Gly2184=) c.6102A>T (p.Gly2034=) c.5310A>T (p.Gly1770=) c.8472A>T (p.Gly2824=) | gnomAD v3 gnomAD v4 |
8 | g.60865415A>C | CA371309761 | CHD7 | n.1652A>C n.583A>C c.*1535A>C (n.*1535A>C) c.8476A>C (p.Asn2826His) c.2329A>C (p.Asn777His) n.522A>C c.8566A>C (p.Asn2856His) c.8563A>C (p.Asn2855His) c.8344A>C (p.Asn2782His) c.6553A>C (p.Asn2185His) c.6103A>C (p.Asn2035His) c.5311A>C (p.Asn1771His) c.8473A>C (p.Asn2825His) | |
8 | g.60865415A>G | CA371309765 | CHD7 | n.1652A>G n.583A>G c.*1535A>G (n.*1535A>G) c.8476A>G (p.Asn2826Asp) c.2329A>G (p.Asn777Asp) n.522A>G c.8566A>G (p.Asn2856Asp) c.8563A>G (p.Asn2855Asp) c.8344A>G (p.Asn2782Asp) c.6553A>G (p.Asn2185Asp) c.6103A>G (p.Asn2035Asp) c.5311A>G (p.Asn1771Asp) c.8473A>G (p.Asn2825Asp) | |
8 | g.60865415A>T | CA371309768 | CHD7 | n.1652A>T n.583A>T c.*1535A>T (n.*1535A>T) c.8476A>T (p.Asn2826Tyr) c.2329A>T (p.Asn777Tyr) n.522A>T c.8566A>T (p.Asn2856Tyr) c.8563A>T (p.Asn2855Tyr) c.8344A>T (p.Asn2782Tyr) c.6553A>T (p.Asn2185Tyr) c.6103A>T (p.Asn2035Tyr) c.5311A>T (p.Asn1771Tyr) c.8473A>T (p.Asn2825Tyr) | |
8 | g.60865416A= | CA1788130335 | CHD7 | n.1653A= n.584A= c.*1536A= (n.*1536A=) c.8477A= (p.Asn2826=) c.2330A= (p.Asn777=) n.523A= c.8567A= (p.Asn2856=) c.8564A= (p.Asn2855=) c.8345A= (p.Asn2782=) c.6554A= (p.Asn2185=) c.6104A= (p.Asn2035=) c.5312A= (p.Asn1771=) c.8474A= (p.Asn2825=) | |
8 | g.60865416A>C | CA371309772 | CHD7 | n.1653A>C n.584A>C c.*1536A>C (n.*1536A>C) c.8477A>C (p.Asn2826Thr) c.2330A>C (p.Asn777Thr) n.523A>C c.8567A>C (p.Asn2856Thr) c.8564A>C (p.Asn2855Thr) c.8345A>C (p.Asn2782Thr) c.6554A>C (p.Asn2185Thr) c.6104A>C (p.Asn2035Thr) c.5312A>C (p.Asn1771Thr) c.8474A>C (p.Asn2825Thr) | |
8 | g.60865416A>G | CA4761021 | CHD7 | n.1653A>G n.584A>G c.*1536A>G (n.*1536A>G) c.8477A>G (p.Asn2826Ser) c.2330A>G (p.Asn777Ser) n.523A>G c.8567A>G (p.Asn2856Ser) c.8564A>G (p.Asn2855Ser) c.8345A>G (p.Asn2782Ser) c.6554A>G (p.Asn2185Ser) c.6104A>G (p.Asn2035Ser) c.5312A>G (p.Asn1771Ser) c.8474A>G (p.Asn2825Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865416A>T | CA371309780 | CHD7 | n.1653A>T n.584A>T c.*1536A>T (n.*1536A>T) c.8477A>T (p.Asn2826Ile) c.2330A>T (p.Asn777Ile) n.523A>T c.8567A>T (p.Asn2856Ile) c.8564A>T (p.Asn2855Ile) c.8345A>T (p.Asn2782Ile) c.6554A>T (p.Asn2185Ile) c.6104A>T (p.Asn2035Ile) c.5312A>T (p.Asn1771Ile) c.8474A>T (p.Asn2825Ile) | |
8 | g.60865417C>A | CA371309788 | CHD7 | n.1654C>A n.585C>A c.*1537C>A (n.*1537C>A) c.8478C>A (p.Asn2826Lys) c.2331C>A (p.Asn777Lys) n.524C>A c.8568C>A (p.Asn2856Lys) c.8565C>A (p.Asn2855Lys) c.8346C>A (p.Asn2782Lys) c.6555C>A (p.Asn2185Lys) c.6105C>A (p.Asn2035Lys) c.5313C>A (p.Asn1771Lys) c.8475C>A (p.Asn2825Lys) | |
8 | g.60865417C= | CA1788130341 | CHD7 | n.1654C= n.585C= c.*1537C= (n.*1537C=) c.8478C= (p.Asn2826=) c.2331C= (p.Asn777=) n.524C= c.8568C= (p.Asn2856=) c.8565C= (p.Asn2855=) c.8346C= (p.Asn2782=) c.6555C= (p.Asn2185=) c.6105C= (p.Asn2035=) c.5313C= (p.Asn1771=) c.8475C= (p.Asn2825=) | |
8 | g.60865417C>G | CA371309783 | CHD7 | n.1654C>G n.585C>G c.*1537C>G (n.*1537C>G) c.8478C>G (p.Asn2826Lys) c.2331C>G (p.Asn777Lys) n.524C>G c.8568C>G (p.Asn2856Lys) c.8565C>G (p.Asn2855Lys) c.8346C>G (p.Asn2782Lys) c.6555C>G (p.Asn2185Lys) c.6105C>G (p.Asn2035Lys) c.5313C>G (p.Asn1771Lys) c.8475C>G (p.Asn2825Lys) | |
8 | g.60865417C>T | CA4761022 | CHD7 | n.1654C>T n.585C>T c.*1537C>T (n.*1537C>T) c.8478C>T (p.Asn2826=) c.2331C>T (p.Asn777=) n.524C>T c.8568C>T (p.Asn2856=) c.8565C>T (p.Asn2855=) c.8346C>T (p.Asn2782=) c.6555C>T (p.Asn2185=) c.6105C>T (p.Asn2035=) c.5313C>T (p.Asn1771=) c.8475C>T (p.Asn2825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.60865418A= | CA1788130351 | CHD7 | n.1655A= n.586A= c.*1538A= (n.*1538A=) c.8479A= (p.Thr2827=) c.2332A= (p.Thr778=) n.525A= c.8569A= (p.Thr2857=) c.8566A= (p.Thr2856=) c.8347A= (p.Thr2783=) c.6556A= (p.Thr2186=) c.6106A= (p.Thr2036=) c.5314A= (p.Thr1772=) c.8476A= (p.Thr2826=) | |
8 | g.60865418A>C | CA371309791 | CHD7 | n.1655A>C n.586A>C c.*1538A>C (n.*1538A>C) c.8479A>C (p.Thr2827Pro) c.2332A>C (p.Thr778Pro) n.525A>C c.8569A>C (p.Thr2857Pro) c.8566A>C (p.Thr2856Pro) c.8347A>C (p.Thr2783Pro) c.6556A>C (p.Thr2186Pro) c.6106A>C (p.Thr2036Pro) c.5314A>C (p.Thr1772Pro) c.8476A>C (p.Thr2826Pro) | ClinVar dbSNP |
8 | g.60865418A>G | CA371309792 | CHD7 | n.1655A>G n.586A>G c.*1538A>G (n.*1538A>G) c.8479A>G (p.Thr2827Ala) c.2332A>G (p.Thr778Ala) n.525A>G c.8569A>G (p.Thr2857Ala) c.8566A>G (p.Thr2856Ala) c.8347A>G (p.Thr2783Ala) c.6556A>G (p.Thr2186Ala) c.6106A>G (p.Thr2036Ala) c.5314A>G (p.Thr1772Ala) c.8476A>G (p.Thr2826Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865418A>T | CA371309793 | CHD7 | n.1655A>T n.586A>T c.*1538A>T (n.*1538A>T) c.8479A>T (p.Thr2827Ser) c.2332A>T (p.Thr778Ser) n.525A>T c.8569A>T (p.Thr2857Ser) c.8566A>T (p.Thr2856Ser) c.8347A>T (p.Thr2783Ser) c.6556A>T (p.Thr2186Ser) c.6106A>T (p.Thr2036Ser) c.5314A>T (p.Thr1772Ser) c.8476A>T (p.Thr2826Ser) | |
8 | g.60865419C>A | CA371309794 | CHD7 | n.1656C>A n.587C>A c.*1539C>A (n.*1539C>A) c.8480C>A (p.Thr2827Asn) c.2333C>A (p.Thr778Asn) n.526C>A c.8570C>A (p.Thr2857Asn) c.8567C>A (p.Thr2856Asn) c.8348C>A (p.Thr2783Asn) c.6557C>A (p.Thr2186Asn) c.6107C>A (p.Thr2036Asn) c.5315C>A (p.Thr1772Asn) c.8477C>A (p.Thr2826Asn) | gnomAD v4 |
8 | g.60865419C>G | CA371309796 | CHD7 | n.1656C>G n.587C>G c.*1539C>G (n.*1539C>G) c.8480C>G (p.Thr2827Ser) c.2333C>G (p.Thr778Ser) n.526C>G c.8570C>G (p.Thr2857Ser) c.8567C>G (p.Thr2856Ser) c.8348C>G (p.Thr2783Ser) c.6557C>G (p.Thr2186Ser) c.6107C>G (p.Thr2036Ser) c.5315C>G (p.Thr1772Ser) c.8477C>G (p.Thr2826Ser) | |
8 | g.60865419C>T | CA371309798 | CHD7 | n.1656C>T n.587C>T c.*1539C>T (n.*1539C>T) c.8480C>T (p.Thr2827Ile) c.2333C>T (p.Thr778Ile) n.526C>T c.8570C>T (p.Thr2857Ile) c.8567C>T (p.Thr2856Ile) c.8348C>T (p.Thr2783Ile) c.6557C>T (p.Thr2186Ile) c.6107C>T (p.Thr2036Ile) c.5315C>T (p.Thr1772Ile) c.8477C>T (p.Thr2826Ile) | |
8 | g.60865420C>A | CA461106107 | CHD7 | n.1657C>A n.588C>A c.*1540C>A (n.*1540C>A) c.8481C>A (p.Thr2827=) c.2334C>A (p.Thr778=) n.527C>A c.8571C>A (p.Thr2857=) c.8568C>A (p.Thr2856=) c.8349C>A (p.Thr2783=) c.6558C>A (p.Thr2186=) c.6108C>A (p.Thr2036=) c.5316C>A (p.Thr1772=) c.8478C>A (p.Thr2826=) | |
8 | g.60865420C= | CA1788130359 | CHD7 | n.1657C= n.588C= c.*1540C= (n.*1540C=) c.8481C= (p.Thr2827=) c.2334C= (p.Thr778=) n.527C= c.8571C= (p.Thr2857=) c.8568C= (p.Thr2856=) c.8349C= (p.Thr2783=) c.6558C= (p.Thr2186=) c.6108C= (p.Thr2036=) c.5316C= (p.Thr1772=) c.8478C= (p.Thr2826=) | |
8 | g.60865420C>G | CA461106109 | CHD7 | n.1657C>G n.588C>G c.*1540C>G (n.*1540C>G) c.8481C>G (p.Thr2827=) c.2334C>G (p.Thr778=) n.527C>G c.8571C>G (p.Thr2857=) c.8568C>G (p.Thr2856=) c.8349C>G (p.Thr2783=) c.6558C>G (p.Thr2186=) c.6108C>G (p.Thr2036=) c.5316C>G (p.Thr1772=) c.8478C>G (p.Thr2826=) | |
8 | g.60865420C>T | CA461106108 | CHD7 | n.1657C>T n.588C>T c.*1540C>T (n.*1540C>T) c.8481C>T (p.Thr2827=) c.2334C>T (p.Thr778=) n.527C>T c.8571C>T (p.Thr2857=) c.8568C>T (p.Thr2856=) c.8349C>T (p.Thr2783=) c.6558C>T (p.Thr2186=) c.6108C>T (p.Thr2036=) c.5316C>T (p.Thr1772=) c.8478C>T (p.Thr2826=) | ClinVar dbSNP gnomAD v4 |
8 | g.60865421A>C | CA371309801 | CHD7 | n.1658A>C n.589A>C c.*1541A>C (n.*1541A>C) c.8482A>C (p.Thr2828Pro) c.2335A>C (p.Thr779Pro) n.528A>C c.8572A>C (p.Thr2858Pro) c.8569A>C (p.Thr2857Pro) c.8350A>C (p.Thr2784Pro) c.6559A>C (p.Thr2187Pro) c.6109A>C (p.Thr2037Pro) c.5317A>C (p.Thr1773Pro) c.8479A>C (p.Thr2827Pro) | |
8 | g.60865421A>G | CA371309807 | CHD7 | n.1658A>G n.589A>G c.*1541A>G (n.*1541A>G) c.8482A>G (p.Thr2828Ala) c.2335A>G (p.Thr779Ala) n.528A>G c.8572A>G (p.Thr2858Ala) c.8569A>G (p.Thr2857Ala) c.8350A>G (p.Thr2784Ala) c.6559A>G (p.Thr2187Ala) c.6109A>G (p.Thr2037Ala) c.5317A>G (p.Thr1773Ala) c.8479A>G (p.Thr2827Ala) | ClinVar |
8 | g.60865421A>T | CA371309804 | CHD7 | n.1658A>T n.589A>T c.*1541A>T (n.*1541A>T) c.8482A>T (p.Thr2828Ser) c.2335A>T (p.Thr779Ser) n.528A>T c.8572A>T (p.Thr2858Ser) c.8569A>T (p.Thr2857Ser) c.8350A>T (p.Thr2784Ser) c.6559A>T (p.Thr2187Ser) c.6109A>T (p.Thr2037Ser) c.5317A>T (p.Thr1773Ser) c.8479A>T (p.Thr2827Ser) | |
8 | g.60865422C>A | CA371309812 | CHD7 | n.1659C>A n.590C>A c.*1542C>A (n.*1542C>A) c.8483C>A (p.Thr2828Asn) c.2336C>A (p.Thr779Asn) n.529C>A c.8573C>A (p.Thr2858Asn) c.8570C>A (p.Thr2857Asn) c.8351C>A (p.Thr2784Asn) c.6560C>A (p.Thr2187Asn) c.6110C>A (p.Thr2037Asn) c.5318C>A (p.Thr1773Asn) c.8480C>A (p.Thr2827Asn) | |
8 | g.60865422C>G | CA371309814 | CHD7 | n.1659C>G n.590C>G c.*1542C>G (n.*1542C>G) c.8483C>G (p.Thr2828Ser) c.2336C>G (p.Thr779Ser) n.529C>G c.8573C>G (p.Thr2858Ser) c.8570C>G (p.Thr2857Ser) c.8351C>G (p.Thr2784Ser) c.6560C>G (p.Thr2187Ser) c.6110C>G (p.Thr2037Ser) c.5318C>G (p.Thr1773Ser) c.8480C>G (p.Thr2827Ser) | |
8 | g.60865422C>T | CA371309815 | CHD7 | n.1659C>T n.590C>T c.*1542C>T (n.*1542C>T) c.8483C>T (p.Thr2828Ile) c.2336C>T (p.Thr779Ile) n.529C>T c.8573C>T (p.Thr2858Ile) c.8570C>T (p.Thr2857Ile) c.8351C>T (p.Thr2784Ile) c.6560C>T (p.Thr2187Ile) c.6110C>T (p.Thr2037Ile) c.5318C>T (p.Thr1773Ile) c.8480C>T (p.Thr2827Ile) | |
8 | g.60865423T>A | CA461106110 | CHD7 | n.1660T>A n.591T>A c.*1543T>A (n.*1543T>A) c.8484T>A (p.Thr2828=) c.2337T>A (p.Thr779=) n.530T>A c.8574T>A (p.Thr2858=) c.8571T>A (p.Thr2857=) c.8352T>A (p.Thr2784=) c.6561T>A (p.Thr2187=) c.6111T>A (p.Thr2037=) c.5319T>A (p.Thr1773=) c.8481T>A (p.Thr2827=) | |
8 | g.60865423T>C | CA461106111 | CHD7 | n.1660T>C n.591T>C c.*1543T>C (n.*1543T>C) c.8484T>C (p.Thr2828=) c.2337T>C (p.Thr779=) n.530T>C c.8574T>C (p.Thr2858=) c.8571T>C (p.Thr2857=) c.8352T>C (p.Thr2784=) c.6561T>C (p.Thr2187=) c.6111T>C (p.Thr2037=) c.5319T>C (p.Thr1773=) c.8481T>C (p.Thr2827=) | |
8 | g.60865423T>G | CA461106112 | CHD7 | n.1660T>G n.591T>G c.*1543T>G (n.*1543T>G) c.8484T>G (p.Thr2828=) c.2337T>G (p.Thr779=) n.530T>G c.8574T>G (p.Thr2858=) c.8571T>G (p.Thr2857=) c.8352T>G (p.Thr2784=) c.6561T>G (p.Thr2187=) c.6111T>G (p.Thr2037=) c.5319T>G (p.Thr1773=) c.8481T>G (p.Thr2827=) | |
8 | g.60865424A>C | CA371309816 | CHD7 | n.1661A>C n.592A>C c.*1544A>C (n.*1544A>C) c.8485A>C (p.Thr2829Pro) c.2338A>C (p.Thr780Pro) n.531A>C c.8575A>C (p.Thr2859Pro) c.8572A>C (p.Thr2858Pro) c.8353A>C (p.Thr2785Pro) c.6562A>C (p.Thr2188Pro) c.6112A>C (p.Thr2038Pro) c.5320A>C (p.Thr1774Pro) c.8482A>C (p.Thr2828Pro) | |
8 | g.60865424A>G | CA371309819 | CHD7 | n.1661A>G n.592A>G c.*1544A>G (n.*1544A>G) c.8485A>G (p.Thr2829Ala) c.2338A>G (p.Thr780Ala) n.531A>G c.8575A>G (p.Thr2859Ala) c.8572A>G (p.Thr2858Ala) c.8353A>G (p.Thr2785Ala) c.6562A>G (p.Thr2188Ala) c.6112A>G (p.Thr2038Ala) c.5320A>G (p.Thr1774Ala) c.8482A>G (p.Thr2828Ala) | |
8 | g.60865424A>T | CA371309820 | CHD7 | n.1661A>T n.592A>T c.*1544A>T (n.*1544A>T) c.8485A>T (p.Thr2829Ser) c.2338A>T (p.Thr780Ser) n.531A>T c.8575A>T (p.Thr2859Ser) c.8572A>T (p.Thr2858Ser) c.8353A>T (p.Thr2785Ser) c.6562A>T (p.Thr2188Ser) c.6112A>T (p.Thr2038Ser) c.5320A>T (p.Thr1774Ser) c.8482A>T (p.Thr2828Ser) | gnomAD v4 |
8 | g.60865425C>A | CA371309821 | CHD7 | n.1662C>A n.593C>A c.*1545C>A (n.*1545C>A) c.8486C>A (p.Thr2829Asn) c.2339C>A (p.Thr780Asn) n.532C>A c.8576C>A (p.Thr2859Asn) c.8573C>A (p.Thr2858Asn) c.8354C>A (p.Thr2785Asn) c.6563C>A (p.Thr2188Asn) c.6113C>A (p.Thr2038Asn) c.5321C>A (p.Thr1774Asn) c.8483C>A (p.Thr2828Asn) | |
8 | g.60865425C>G | CA371309822 | CHD7 | n.1662C>G n.593C>G c.*1545C>G (n.*1545C>G) c.8486C>G (p.Thr2829Ser) c.2339C>G (p.Thr780Ser) n.532C>G c.8576C>G (p.Thr2859Ser) c.8573C>G (p.Thr2858Ser) c.8354C>G (p.Thr2785Ser) c.6563C>G (p.Thr2188Ser) c.6113C>G (p.Thr2038Ser) c.5321C>G (p.Thr1774Ser) c.8483C>G (p.Thr2828Ser) | |
8 | g.60865425C>T | CA371309825 | CHD7 | n.1662C>T n.593C>T c.*1545C>T (n.*1545C>T) c.8486C>T (p.Thr2829Ile) c.2339C>T (p.Thr780Ile) n.532C>T c.8576C>T (p.Thr2859Ile) c.8573C>T (p.Thr2858Ile) c.8354C>T (p.Thr2785Ile) c.6563C>T (p.Thr2188Ile) c.6113C>T (p.Thr2038Ile) c.5321C>T (p.Thr1774Ile) c.8483C>T (p.Thr2828Ile) | |
8 | g.60865426T>A | CA461106116 | CHD7 | n.1663T>A n.594T>A c.*1546T>A (n.*1546T>A) c.8487T>A (p.Thr2829=) c.2340T>A (p.Thr780=) n.533T>A c.8577T>A (p.Thr2859=) c.8574T>A (p.Thr2858=) c.8355T>A (p.Thr2785=) c.6564T>A (p.Thr2188=) c.6114T>A (p.Thr2038=) c.5322T>A (p.Thr1774=) c.8484T>A (p.Thr2828=) | |
8 | g.60865426T>C | CA461106117 | CHD7 | n.1663T>C n.594T>C c.*1546T>C (n.*1546T>C) c.8487T>C (p.Thr2829=) c.2340T>C (p.Thr780=) n.533T>C c.8577T>C (p.Thr2859=) c.8574T>C (p.Thr2858=) c.8355T>C (p.Thr2785=) c.6564T>C (p.Thr2188=) c.6114T>C (p.Thr2038=) c.5322T>C (p.Thr1774=) c.8484T>C (p.Thr2828=) | |
8 | g.60865426T>G | CA461106118 | CHD7 | n.1663T>G n.594T>G c.*1546T>G (n.*1546T>G) c.8487T>G (p.Thr2829=) c.2340T>G (p.Thr780=) n.533T>G c.8577T>G (p.Thr2859=) c.8574T>G (p.Thr2858=) c.8355T>G (p.Thr2785=) c.6564T>G (p.Thr2188=) c.6114T>G (p.Thr2038=) c.5322T>G (p.Thr1774=) c.8484T>G (p.Thr2828=) | |
8 | g.60865427G>A | CA4761023 | CHD7 | n.1664G>A n.595G>A c.*1547G>A (n.*1547G>A) c.8488G>A (p.Ala2830Thr) c.2341G>A (p.Ala781Thr) n.534G>A c.8578G>A (p.Ala2860Thr) c.8575G>A (p.Ala2859Thr) c.8356G>A (p.Ala2786Thr) c.6565G>A (p.Ala2189Thr) c.6115G>A (p.Ala2039Thr) c.5323G>A (p.Ala1775Thr) c.8485G>A (p.Ala2829Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865427G>C | CA371309831 | CHD7 | n.1664G>C n.595G>C c.*1547G>C (n.*1547G>C) c.8488G>C (p.Ala2830Pro) c.2341G>C (p.Ala781Pro) n.534G>C c.8578G>C (p.Ala2860Pro) c.8575G>C (p.Ala2859Pro) c.8356G>C (p.Ala2786Pro) c.6565G>C (p.Ala2189Pro) c.6115G>C (p.Ala2039Pro) c.5323G>C (p.Ala1775Pro) c.8485G>C (p.Ala2829Pro) | |
8 | g.60865427G= | CA1788130371 | CHD7 | n.1664G= n.595G= c.*1547G= (n.*1547G=) c.8488G= (p.Ala2830=) c.2341G= (p.Ala781=) n.534G= c.8578G= (p.Ala2860=) c.8575G= (p.Ala2859=) c.8356G= (p.Ala2786=) c.6565G= (p.Ala2189=) c.6115G= (p.Ala2039=) c.5323G= (p.Ala1775=) c.8485G= (p.Ala2829=) | |
8 | g.60865427G>T | CA371309835 | CHD7 | n.1664G>T n.595G>T c.*1547G>T (n.*1547G>T) c.8488G>T (p.Ala2830Ser) c.2341G>T (p.Ala781Ser) n.534G>T c.8578G>T (p.Ala2860Ser) c.8575G>T (p.Ala2859Ser) c.8356G>T (p.Ala2786Ser) c.6565G>T (p.Ala2189Ser) c.6115G>T (p.Ala2039Ser) c.5323G>T (p.Ala1775Ser) c.8485G>T (p.Ala2829Ser) | |
8 | g.60865428C>A | CA371309849 | CHD7 | n.1665C>A n.596C>A c.*1548C>A (n.*1548C>A) c.8489C>A (p.Ala2830Asp) c.2342C>A (p.Ala781Asp) n.535C>A c.8579C>A (p.Ala2860Asp) c.8576C>A (p.Ala2859Asp) c.8357C>A (p.Ala2786Asp) c.6566C>A (p.Ala2189Asp) c.6116C>A (p.Ala2039Asp) c.5324C>A (p.Ala1775Asp) c.8486C>A (p.Ala2829Asp) | |
8 | g.60865428C>G | CA371309839 | CHD7 | n.1665C>G n.596C>G c.*1548C>G (n.*1548C>G) c.8489C>G (p.Ala2830Gly) c.2342C>G (p.Ala781Gly) n.535C>G c.8579C>G (p.Ala2860Gly) c.8576C>G (p.Ala2859Gly) c.8357C>G (p.Ala2786Gly) c.6566C>G (p.Ala2189Gly) c.6116C>G (p.Ala2039Gly) c.5324C>G (p.Ala1775Gly) c.8486C>G (p.Ala2829Gly) | |
8 | g.60865428C>T | CA371309844 | CHD7 | n.1665C>T n.596C>T c.*1548C>T (n.*1548C>T) c.8489C>T (p.Ala2830Val) c.2342C>T (p.Ala781Val) n.535C>T c.8579C>T (p.Ala2860Val) c.8576C>T (p.Ala2859Val) c.8357C>T (p.Ala2786Val) c.6566C>T (p.Ala2189Val) c.6116C>T (p.Ala2039Val) c.5324C>T (p.Ala1775Val) c.8486C>T (p.Ala2829Val) | |
8 | g.60865429T>A | CA4761024 | CHD7 | n.1666T>A n.597T>A c.*1549T>A (n.*1549T>A) c.8490T>A (p.Ala2830=) c.2343T>A (p.Ala781=) n.536T>A c.8580T>A (p.Ala2860=) c.8577T>A (p.Ala2859=) c.8358T>A (p.Ala2786=) c.6567T>A (p.Ala2189=) c.6117T>A (p.Ala2039=) c.5325T>A (p.Ala1775=) c.8487T>A (p.Ala2829=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865429T>C | CA461106122 | CHD7 | n.1666T>C n.597T>C c.*1549T>C (n.*1549T>C) c.8490T>C (p.Ala2830=) c.2343T>C (p.Ala781=) n.536T>C c.8580T>C (p.Ala2860=) c.8577T>C (p.Ala2859=) c.8358T>C (p.Ala2786=) c.6567T>C (p.Ala2189=) c.6117T>C (p.Ala2039=) c.5325T>C (p.Ala1775=) c.8487T>C (p.Ala2829=) | ClinVar dbSNP gnomAD v4 |
8 | g.60865429T>G | CA461106123 | CHD7 | n.1666T>G n.597T>G c.*1549T>G (n.*1549T>G) c.8490T>G (p.Ala2830=) c.2343T>G (p.Ala781=) n.536T>G c.8580T>G (p.Ala2860=) c.8577T>G (p.Ala2859=) c.8358T>G (p.Ala2786=) c.6567T>G (p.Ala2189=) c.6117T>G (p.Ala2039=) c.5325T>G (p.Ala1775=) c.8487T>G (p.Ala2829=) | |
8 | g.60865429T= | CA1788130381 | CHD7 | n.1666T= n.597T= c.*1549T= (n.*1549T=) c.8490T= (p.Ala2830=) c.2343T= (p.Ala781=) n.536T= c.8580T= (p.Ala2860=) c.8577T= (p.Ala2859=) c.8358T= (p.Ala2786=) c.6567T= (p.Ala2189=) c.6117T= (p.Ala2039=) c.5325T= (p.Ala1775=) c.8487T= (p.Ala2829=) | |
8 | g.60865430del | CA2695203185 | CHD7 | n.1667del n.598del c.*1550del (n.*1550del) c.8491del (p.Ser2831LeufsTer?) c.2344del (p.Ser782LeufsTer?) n.537del c.8581del (p.Ser2861LeufsTer?) c.8578del (p.Ser2860LeufsTer?) c.8359del (p.Ser2787LeufsTer?) c.6568del (p.Ser2190LeufsTer?) c.6118del (p.Ser2040LeufsTer?) c.5326del (p.Ser1776LeufsTer?) c.8488del (p.Ser2830LeufsTer?) | |
8 | g.60865430T>A | CA371309858 | CHD7 | n.1667T>A n.598T>A c.*1550T>A (n.*1550T>A) c.8491T>A (p.Ser2831Thr) c.2344T>A (p.Ser782Thr) n.537T>A c.8581T>A (p.Ser2861Thr) c.8578T>A (p.Ser2860Thr) c.8359T>A (p.Ser2787Thr) c.6568T>A (p.Ser2190Thr) c.6118T>A (p.Ser2040Thr) c.5326T>A (p.Ser1776Thr) c.8488T>A (p.Ser2830Thr) | |
8 | g.60865430T>C | CA371309865 | CHD7 | n.1667T>C n.598T>C c.*1550T>C (n.*1550T>C) c.8491T>C (p.Ser2831Pro) c.2344T>C (p.Ser782Pro) n.537T>C c.8581T>C (p.Ser2861Pro) c.8578T>C (p.Ser2860Pro) c.8359T>C (p.Ser2787Pro) c.6568T>C (p.Ser2190Pro) c.6118T>C (p.Ser2040Pro) c.5326T>C (p.Ser1776Pro) c.8488T>C (p.Ser2830Pro) | |
8 | g.60865430T>G | CA371309869 | CHD7 | n.1667T>G n.598T>G c.*1550T>G (n.*1550T>G) c.8491T>G (p.Ser2831Ala) c.2344T>G (p.Ser782Ala) n.537T>G c.8581T>G (p.Ser2861Ala) c.8578T>G (p.Ser2860Ala) c.8359T>G (p.Ser2787Ala) c.6568T>G (p.Ser2190Ala) c.6118T>G (p.Ser2040Ala) c.5326T>G (p.Ser1776Ala) c.8488T>G (p.Ser2830Ala) | |
8 | g.60865431C>A | CA371309873 | CHD7 | n.1668C>A n.599C>A c.*1551C>A (n.*1551C>A) c.8492C>A (p.Ser2831Tyr) c.2345C>A (p.Ser782Tyr) n.538C>A c.8582C>A (p.Ser2861Tyr) c.8579C>A (p.Ser2860Tyr) c.8360C>A (p.Ser2787Tyr) c.6569C>A (p.Ser2190Tyr) c.6119C>A (p.Ser2040Tyr) c.5327C>A (p.Ser1776Tyr) c.8489C>A (p.Ser2830Tyr) | |
8 | g.60865431C= | CA1788130397 | CHD7 | n.1668C= n.599C= c.*1551C= (n.*1551C=) c.8492C= (p.Ser2831=) c.2345C= (p.Ser782=) n.538C= c.8582C= (p.Ser2861=) c.8579C= (p.Ser2860=) c.8360C= (p.Ser2787=) c.6569C= (p.Ser2190=) c.6119C= (p.Ser2040=) c.5327C= (p.Ser1776=) c.8489C= (p.Ser2830=) | |
8 | g.60865431C>G | CA371309877 | CHD7 | n.1668C>G n.599C>G c.*1551C>G (n.*1551C>G) c.8492C>G (p.Ser2831Cys) c.2345C>G (p.Ser782Cys) n.538C>G c.8582C>G (p.Ser2861Cys) c.8579C>G (p.Ser2860Cys) c.8360C>G (p.Ser2787Cys) c.6569C>G (p.Ser2190Cys) c.6119C>G (p.Ser2040Cys) c.5327C>G (p.Ser1776Cys) c.8489C>G (p.Ser2830Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865431C>T | CA371309880 | CHD7 | n.1668C>T n.599C>T c.*1551C>T (n.*1551C>T) c.8492C>T (p.Ser2831Phe) c.2345C>T (p.Ser782Phe) n.538C>T c.8582C>T (p.Ser2861Phe) c.8579C>T (p.Ser2860Phe) c.8360C>T (p.Ser2787Phe) c.6569C>T (p.Ser2190Phe) c.6119C>T (p.Ser2040Phe) c.5327C>T (p.Ser1776Phe) c.8489C>T (p.Ser2830Phe) | |
8 | g.60865432T>A | CA461106129 | CHD7 | n.1669T>A n.600T>A c.*1552T>A (n.*1552T>A) c.8493T>A (p.Ser2831=) c.2346T>A (p.Ser782=) n.539T>A c.8583T>A (p.Ser2861=) c.8580T>A (p.Ser2860=) c.8361T>A (p.Ser2787=) c.6570T>A (p.Ser2190=) c.6120T>A (p.Ser2040=) c.5328T>A (p.Ser1776=) c.8490T>A (p.Ser2830=) | |
8 | g.60865432T>C | CA461106130 | CHD7 | n.1669T>C n.600T>C c.*1552T>C (n.*1552T>C) c.8493T>C (p.Ser2831=) c.2346T>C (p.Ser782=) n.539T>C c.8583T>C (p.Ser2861=) c.8580T>C (p.Ser2860=) c.8361T>C (p.Ser2787=) c.6570T>C (p.Ser2190=) c.6120T>C (p.Ser2040=) c.5328T>C (p.Ser1776=) c.8490T>C (p.Ser2830=) | |
8 | g.60865432T>G | CA461106131 | CHD7 | n.1669T>G n.600T>G c.*1552T>G (n.*1552T>G) c.8493T>G (p.Ser2831=) c.2346T>G (p.Ser782=) n.539T>G c.8583T>G (p.Ser2861=) c.8580T>G (p.Ser2860=) c.8361T>G (p.Ser2787=) c.6570T>G (p.Ser2190=) c.6120T>G (p.Ser2040=) c.5328T>G (p.Ser1776=) c.8490T>G (p.Ser2830=) | |
8 | g.60865433A>C | CA371309895 | CHD7 | n.1670A>C n.601A>C c.*1553A>C (n.*1553A>C) c.8494A>C (p.Ser2832Arg) c.2347A>C (p.Ser783Arg) n.540A>C c.8584A>C (p.Ser2862Arg) c.8581A>C (p.Ser2861Arg) c.8362A>C (p.Ser2788Arg) c.6571A>C (p.Ser2191Arg) c.6121A>C (p.Ser2041Arg) c.5329A>C (p.Ser1777Arg) c.8491A>C (p.Ser2831Arg) | gnomAD v4 |
8 | g.60865433A>G | CA371309888 | CHD7 | n.1670A>G n.601A>G c.*1553A>G (n.*1553A>G) c.8494A>G (p.Ser2832Gly) c.2347A>G (p.Ser783Gly) n.540A>G c.8584A>G (p.Ser2862Gly) c.8581A>G (p.Ser2861Gly) c.8362A>G (p.Ser2788Gly) c.6571A>G (p.Ser2191Gly) c.6121A>G (p.Ser2041Gly) c.5329A>G (p.Ser1777Gly) c.8491A>G (p.Ser2831Gly) | |
8 | g.60865433A>T | CA371309891 | CHD7 | n.1670A>T n.601A>T c.*1553A>T (n.*1553A>T) c.8494A>T (p.Ser2832Cys) c.2347A>T (p.Ser783Cys) n.540A>T c.8584A>T (p.Ser2862Cys) c.8581A>T (p.Ser2861Cys) c.8362A>T (p.Ser2788Cys) c.6571A>T (p.Ser2191Cys) c.6121A>T (p.Ser2041Cys) c.5329A>T (p.Ser1777Cys) c.8491A>T (p.Ser2831Cys) | |
8 | g.60865434G>A | CA4761025 | CHD7 | n.1671G>A n.602G>A c.*1554G>A (n.*1554G>A) c.8495G>A (p.Ser2832Asn) c.2348G>A (p.Ser783Asn) n.541G>A c.8585G>A (p.Ser2862Asn) c.8582G>A (p.Ser2861Asn) c.8363G>A (p.Ser2788Asn) c.6572G>A (p.Ser2191Asn) c.6122G>A (p.Ser2041Asn) c.5330G>A (p.Ser1777Asn) c.8492G>A (p.Ser2831Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865434G>C | CA371309901 | CHD7 | n.1671G>C n.602G>C c.*1554G>C (n.*1554G>C) c.8495G>C (p.Ser2832Thr) c.2348G>C (p.Ser783Thr) n.541G>C c.8585G>C (p.Ser2862Thr) c.8582G>C (p.Ser2861Thr) c.8363G>C (p.Ser2788Thr) c.6572G>C (p.Ser2191Thr) c.6122G>C (p.Ser2041Thr) c.5330G>C (p.Ser1777Thr) c.8492G>C (p.Ser2831Thr) | |
8 | g.60865434G= | CA1788130406 | CHD7 | n.1671G= n.602G= c.*1554G= (n.*1554G=) c.8495G= (p.Ser2832=) c.2348G= (p.Ser783=) n.541G= c.8585G= (p.Ser2862=) c.8582G= (p.Ser2861=) c.8363G= (p.Ser2788=) c.6572G= (p.Ser2191=) c.6122G= (p.Ser2041=) c.5330G= (p.Ser1777=) c.8492G= (p.Ser2831=) | |
8 | g.60865434G>T | CA371309915 | CHD7 | n.1671G>T n.602G>T c.*1554G>T (n.*1554G>T) c.8495G>T (p.Ser2832Ile) c.2348G>T (p.Ser783Ile) n.541G>T c.8585G>T (p.Ser2862Ile) c.8582G>T (p.Ser2861Ile) c.8363G>T (p.Ser2788Ile) c.6572G>T (p.Ser2191Ile) c.6122G>T (p.Ser2041Ile) c.5330G>T (p.Ser1777Ile) c.8492G>T (p.Ser2831Ile) | |
8 | g.60865435T>A | CA371309922 | CHD7 | n.1672T>A n.603T>A c.*1555T>A (n.*1555T>A) c.8496T>A (p.Ser2832Arg) c.2349T>A (p.Ser783Arg) n.542T>A c.8586T>A (p.Ser2862Arg) c.8583T>A (p.Ser2861Arg) c.8364T>A (p.Ser2788Arg) c.6573T>A (p.Ser2191Arg) c.6123T>A (p.Ser2041Arg) c.5331T>A (p.Ser1777Arg) c.8493T>A (p.Ser2831Arg) | |
8 | g.60865435T>C | CA461106136 | CHD7 | n.1672T>C n.603T>C c.*1555T>C (n.*1555T>C) c.8496T>C (p.Ser2832=) c.2349T>C (p.Ser783=) n.542T>C c.8586T>C (p.Ser2862=) c.8583T>C (p.Ser2861=) c.8364T>C (p.Ser2788=) c.6573T>C (p.Ser2191=) c.6123T>C (p.Ser2041=) c.5331T>C (p.Ser1777=) c.8493T>C (p.Ser2831=) | gnomAD v4 |
8 | g.60865435T>G | CA371309925 | CHD7 | n.1672T>G n.603T>G c.*1555T>G (n.*1555T>G) c.8496T>G (p.Ser2832Arg) c.2349T>G (p.Ser783Arg) n.542T>G c.8586T>G (p.Ser2862Arg) c.8583T>G (p.Ser2861Arg) c.8364T>G (p.Ser2788Arg) c.6573T>G (p.Ser2191Arg) c.6123T>G (p.Ser2041Arg) c.5331T>G (p.Ser1777Arg) c.8493T>G (p.Ser2831Arg) | |
8 | g.60865436C>A | CA371309935 | CHD7 | n.1673C>A n.604C>A c.*1556C>A (n.*1556C>A) c.8497C>A (p.Gln2833Lys) c.2350C>A (p.Gln784Lys) n.543C>A c.8587C>A (p.Gln2863Lys) c.8584C>A (p.Gln2862Lys) c.8365C>A (p.Gln2789Lys) c.6574C>A (p.Gln2192Lys) c.6124C>A (p.Gln2042Lys) c.5332C>A (p.Gln1778Lys) c.8494C>A (p.Gln2832Lys) | |
8 | g.60865436C>G | CA371309937 | CHD7 | n.1673C>G n.604C>G c.*1556C>G (n.*1556C>G) c.8497C>G (p.Gln2833Glu) c.2350C>G (p.Gln784Glu) n.543C>G c.8587C>G (p.Gln2863Glu) c.8584C>G (p.Gln2862Glu) c.8365C>G (p.Gln2789Glu) c.6574C>G (p.Gln2192Glu) c.6124C>G (p.Gln2042Glu) c.5332C>G (p.Gln1778Glu) c.8494C>G (p.Gln2832Glu) | |
8 | g.60865436C>T | CA371309936 | CHD7 | n.1673C>T n.604C>T c.*1556C>T (n.*1556C>T) c.8497C>T (p.Gln2833Ter) c.2350C>T (p.Gln784Ter) n.543C>T c.8587C>T (p.Gln2863Ter) c.8584C>T (p.Gln2862Ter) c.8365C>T (p.Gln2789Ter) c.6574C>T (p.Gln2192Ter) c.6124C>T (p.Gln2042Ter) c.5332C>T (p.Gln1778Ter) c.8494C>T (p.Gln2832Ter) | gnomAD v4 |
8 | g.60865437A>C | CA371309942 | CHD7 | n.1674A>C n.605A>C c.*1557A>C (n.*1557A>C) c.8498A>C (p.Gln2833Pro) c.2351A>C (p.Gln784Pro) n.544A>C c.8588A>C (p.Gln2863Pro) c.8585A>C (p.Gln2862Pro) c.8366A>C (p.Gln2789Pro) c.6575A>C (p.Gln2192Pro) c.6125A>C (p.Gln2042Pro) c.5333A>C (p.Gln1778Pro) c.8495A>C (p.Gln2832Pro) | |
8 | g.60865437A>G | CA371309943 | CHD7 | n.1674A>G n.605A>G c.*1557A>G (n.*1557A>G) c.8498A>G (p.Gln2833Arg) c.2351A>G (p.Gln784Arg) n.544A>G c.8588A>G (p.Gln2863Arg) c.8585A>G (p.Gln2862Arg) c.8366A>G (p.Gln2789Arg) c.6575A>G (p.Gln2192Arg) c.6125A>G (p.Gln2042Arg) c.5333A>G (p.Gln1778Arg) c.8495A>G (p.Gln2832Arg) | |
8 | g.60865437A>T | CA371309945 | CHD7 | n.1674A>T n.605A>T c.*1557A>T (n.*1557A>T) c.8498A>T (p.Gln2833Leu) c.2351A>T (p.Gln784Leu) n.544A>T c.8588A>T (p.Gln2863Leu) c.8585A>T (p.Gln2862Leu) c.8366A>T (p.Gln2789Leu) c.6575A>T (p.Gln2192Leu) c.6125A>T (p.Gln2042Leu) c.5333A>T (p.Gln1778Leu) c.8495A>T (p.Gln2832Leu) | |
8 | g.60865437_60865440delinsAAGG | CA1788130412 | CHD7 | n.1674_1677delinsAAGG n.605_608delinsAAGG c.*1557_*1560delinsAAGG (n.*1557_*1560delinsAAGG) c.8498_8501delinsAAGG (p.Gln2833=) c.2351_2354delinsAAGG (p.Gln784=) n.544_547delinsAAGG c.8588_8591delinsAAGG (p.Gln2863=) c.8585_8588delinsAAGG (p.Gln2862=) c.8366_8369delinsAAGG (p.Gln2789=) c.6575_6578delinsAAGG (p.Gln2192=) c.6125_6128delinsAAGG (p.Gln2042=) c.5333_5336delinsAAGG (p.Gln1778=) c.8495_8498delinsAAGG (p.Gln2832=) | |
8 | g.60865438A>C | CA371309951 | CHD7 | n.1675A>C n.606A>C c.*1558A>C (n.*1558A>C) c.8499A>C (p.Gln2833His) c.2352A>C (p.Gln784His) n.545A>C c.8589A>C (p.Gln2863His) c.8586A>C (p.Gln2862His) c.8367A>C (p.Gln2789His) c.6576A>C (p.Gln2192His) c.6126A>C (p.Gln2042His) c.5334A>C (p.Gln1778His) c.8496A>C (p.Gln2832His) | |
8 | g.60865438A>G | CA461106138 | CHD7 | n.1675A>G n.606A>G c.*1558A>G (n.*1558A>G) c.8499A>G (p.Gln2833=) c.2352A>G (p.Gln784=) n.545A>G c.8589A>G (p.Gln2863=) c.8586A>G (p.Gln2862=) c.8367A>G (p.Gln2789=) c.6576A>G (p.Gln2192=) c.6126A>G (p.Gln2042=) c.5334A>G (p.Gln1778=) c.8496A>G (p.Gln2832=) | |
8 | g.60865438A>T | CA371309955 | CHD7 | n.1675A>T n.606A>T c.*1558A>T (n.*1558A>T) c.8499A>T (p.Gln2833His) c.2352A>T (p.Gln784His) n.545A>T c.8589A>T (p.Gln2863His) c.8586A>T (p.Gln2862His) c.8367A>T (p.Gln2789His) c.6576A>T (p.Gln2192His) c.6126A>T (p.Gln2042His) c.5334A>T (p.Gln1778His) c.8496A>T (p.Gln2832His) | gnomAD v4 |
8 | g.60865440_60865442del | CA1788130417 | CHD7 | n.1677_1679del n.608_610del c.*1560_*1562del (n.*1560_*1562del) c.8501_8503del (p.Gly2834del) c.2354_2356del (p.Gly785del) n.547_549del c.8591_8593del (p.Gly2864del) c.8588_8590del (p.Gly2863del) c.8369_8371del (p.Gly2790del) c.6578_6580del (p.Gly2193del) c.6128_6130del (p.Gly2043del) c.5336_5338del (p.Gly1779del) c.8498_8500del (p.Gly2833del) | dbSNP |
8 | g.60865439G>A | CA371309960 | CHD7 | n.1676G>A n.607G>A c.*1559G>A (n.*1559G>A) c.8500G>A (p.Gly2834Arg) c.2353G>A (p.Gly785Arg) n.546G>A c.8590G>A (p.Gly2864Arg) c.8587G>A (p.Gly2863Arg) c.8368G>A (p.Gly2790Arg) c.6577G>A (p.Gly2193Arg) c.6127G>A (p.Gly2043Arg) c.5335G>A (p.Gly1779Arg) c.8497G>A (p.Gly2833Arg) | |
8 | g.60865439G>C | CA371309961 | CHD7 | n.1676G>C n.607G>C c.*1559G>C (n.*1559G>C) c.8500G>C (p.Gly2834Arg) c.2353G>C (p.Gly785Arg) n.546G>C c.8590G>C (p.Gly2864Arg) c.8587G>C (p.Gly2863Arg) c.8368G>C (p.Gly2790Arg) c.6577G>C (p.Gly2193Arg) c.6127G>C (p.Gly2043Arg) c.5335G>C (p.Gly1779Arg) c.8497G>C (p.Gly2833Arg) | |
8 | g.60865439G>T | CA371309962 | CHD7 | n.1676G>T n.607G>T c.*1559G>T (n.*1559G>T) c.8500G>T (p.Gly2834Ter) c.2353G>T (p.Gly785Ter) n.546G>T c.8590G>T (p.Gly2864Ter) c.8587G>T (p.Gly2863Ter) c.8368G>T (p.Gly2790Ter) c.6577G>T (p.Gly2193Ter) c.6127G>T (p.Gly2043Ter) c.5335G>T (p.Gly1779Ter) c.8497G>T (p.Gly2833Ter) | |
8 | g.60865440G>A | CA371309965 | CHD7 | n.1677G>A n.608G>A c.*1560G>A (n.*1560G>A) c.8501G>A (p.Gly2834Glu) c.2354G>A (p.Gly785Glu) n.547G>A c.8591G>A (p.Gly2864Glu) c.8588G>A (p.Gly2863Glu) c.8369G>A (p.Gly2790Glu) c.6578G>A (p.Gly2193Glu) c.6128G>A (p.Gly2043Glu) c.5336G>A (p.Gly1779Glu) c.8498G>A (p.Gly2833Glu) | |
8 | g.60865440G>C | CA371309968 | CHD7 | n.1677G>C n.608G>C c.*1560G>C (n.*1560G>C) c.8501G>C (p.Gly2834Ala) c.2354G>C (p.Gly785Ala) n.547G>C c.8591G>C (p.Gly2864Ala) c.8588G>C (p.Gly2863Ala) c.8369G>C (p.Gly2790Ala) c.6578G>C (p.Gly2193Ala) c.6128G>C (p.Gly2043Ala) c.5336G>C (p.Gly1779Ala) c.8498G>C (p.Gly2833Ala) | dbSNP |
8 | g.60865440G= | CA1788130425 | CHD7 | n.1677G= n.608G= c.*1560G= (n.*1560G=) c.8501G= (p.Gly2834=) c.2354G= (p.Gly785=) n.547G= c.8591G= (p.Gly2864=) c.8588G= (p.Gly2863=) c.8369G= (p.Gly2790=) c.6578G= (p.Gly2193=) c.6128G= (p.Gly2043=) c.5336G= (p.Gly1779=) c.8498G= (p.Gly2833=) | |
8 | g.60865440G>T | CA371309971 | CHD7 | n.1677G>T n.608G>T c.*1560G>T (n.*1560G>T) c.8501G>T (p.Gly2834Val) c.2354G>T (p.Gly785Val) n.547G>T c.8591G>T (p.Gly2864Val) c.8588G>T (p.Gly2863Val) c.8369G>T (p.Gly2790Val) c.6578G>T (p.Gly2193Val) c.6128G>T (p.Gly2043Val) c.5336G>T (p.Gly1779Val) c.8498G>T (p.Gly2833Val) | |
8 | g.60865441A>C | CA461106140 | CHD7 | n.1678A>C n.609A>C c.*1561A>C (n.*1561A>C) c.8502A>C (p.Gly2834=) c.2355A>C (p.Gly785=) n.548A>C c.8592A>C (p.Gly2864=) c.8589A>C (p.Gly2863=) c.8370A>C (p.Gly2790=) c.6579A>C (p.Gly2193=) c.6129A>C (p.Gly2043=) c.5337A>C (p.Gly1779=) c.8499A>C (p.Gly2833=) | |
8 | g.60865441A>G | CA461106141 | CHD7 | n.1678A>G n.609A>G c.*1561A>G (n.*1561A>G) c.8502A>G (p.Gly2834=) c.2355A>G (p.Gly785=) n.548A>G c.8592A>G (p.Gly2864=) c.8589A>G (p.Gly2863=) c.8370A>G (p.Gly2790=) c.6579A>G (p.Gly2193=) c.6129A>G (p.Gly2043=) c.5337A>G (p.Gly1779=) c.8499A>G (p.Gly2833=) | gnomAD v4 |
8 | g.60865441A>T | CA461106142 | CHD7 | n.1678A>T n.609A>T c.*1561A>T (n.*1561A>T) c.8502A>T (p.Gly2834=) c.2355A>T (p.Gly785=) n.548A>T c.8592A>T (p.Gly2864=) c.8589A>T (p.Gly2863=) c.8370A>T (p.Gly2790=) c.6579A>T (p.Gly2193=) c.6129A>T (p.Gly2043=) c.5337A>T (p.Gly1779=) c.8499A>T (p.Gly2833=) | |
8 | g.60865442G>A | CA371309978 | CHD7 | n.1679G>A n.610G>A c.*1562G>A (n.*1562G>A) c.8503G>A (p.Glu2835Lys) c.2356G>A (p.Glu786Lys) n.549G>A c.8593G>A (p.Glu2865Lys) c.8590G>A (p.Glu2864Lys) c.8371G>A (p.Glu2791Lys) c.6580G>A (p.Glu2194Lys) c.6130G>A (p.Glu2044Lys) c.5338G>A (p.Glu1780Lys) c.8500G>A (p.Glu2834Lys) | gnomAD v4 |
8 | g.60865442G>C | CA371309987 | CHD7 | n.1679G>C n.610G>C c.*1562G>C (n.*1562G>C) c.8503G>C (p.Glu2835Gln) c.2356G>C (p.Glu786Gln) n.549G>C c.8593G>C (p.Glu2865Gln) c.8590G>C (p.Glu2864Gln) c.8371G>C (p.Glu2791Gln) c.6580G>C (p.Glu2194Gln) c.6130G>C (p.Glu2044Gln) c.5338G>C (p.Glu1780Gln) c.8500G>C (p.Glu2834Gln) | |
8 | g.60865442G>T | CA371309981 | CHD7 | n.1679G>T n.610G>T c.*1562G>T (n.*1562G>T) c.8503G>T (p.Glu2835Ter) c.2356G>T (p.Glu786Ter) n.549G>T c.8593G>T (p.Glu2865Ter) c.8590G>T (p.Glu2864Ter) c.8371G>T (p.Glu2791Ter) c.6580G>T (p.Glu2194Ter) c.6130G>T (p.Glu2044Ter) c.5338G>T (p.Glu1780Ter) c.8500G>T (p.Glu2834Ter) | |
8 | g.60865443A>C | CA371309992 | CHD7 | n.1680A>C n.611A>C c.*1563A>C (n.*1563A>C) c.8504A>C (p.Glu2835Ala) c.2357A>C (p.Glu786Ala) n.550A>C c.8594A>C (p.Glu2865Ala) c.8591A>C (p.Glu2864Ala) c.8372A>C (p.Glu2791Ala) c.6581A>C (p.Glu2194Ala) c.6131A>C (p.Glu2044Ala) c.5339A>C (p.Glu1780Ala) c.8501A>C (p.Glu2834Ala) | |
8 | g.60865443A>G | CA371309999 | CHD7 | n.1680A>G n.611A>G c.*1563A>G (n.*1563A>G) c.8504A>G (p.Glu2835Gly) c.2357A>G (p.Glu786Gly) n.550A>G c.8594A>G (p.Glu2865Gly) c.8591A>G (p.Glu2864Gly) c.8372A>G (p.Glu2791Gly) c.6581A>G (p.Glu2194Gly) c.6131A>G (p.Glu2044Gly) c.5339A>G (p.Glu1780Gly) c.8501A>G (p.Glu2834Gly) | |
8 | g.60865443A>T | CA371309996 | CHD7 | n.1680A>T n.611A>T c.*1563A>T (n.*1563A>T) c.8504A>T (p.Glu2835Val) c.2357A>T (p.Glu786Val) n.550A>T c.8594A>T (p.Glu2865Val) c.8591A>T (p.Glu2864Val) c.8372A>T (p.Glu2791Val) c.6581A>T (p.Glu2194Val) c.6131A>T (p.Glu2044Val) c.5339A>T (p.Glu1780Val) c.8501A>T (p.Glu2834Val) | |
8 | g.60865444A>C | CA371310006 | CHD7 | n.1681A>C n.612A>C c.*1564A>C (n.*1564A>C) c.8505A>C (p.Glu2835Asp) c.2358A>C (p.Glu786Asp) n.551A>C c.8595A>C (p.Glu2865Asp) c.8592A>C (p.Glu2864Asp) c.8373A>C (p.Glu2791Asp) c.6582A>C (p.Glu2194Asp) c.6132A>C (p.Glu2044Asp) c.5340A>C (p.Glu1780Asp) c.8502A>C (p.Glu2834Asp) | |
8 | g.60865444A>G | CA461106147 | CHD7 | n.1681A>G n.612A>G c.*1564A>G (n.*1564A>G) c.8505A>G (p.Glu2835=) c.2358A>G (p.Glu786=) n.551A>G c.8595A>G (p.Glu2865=) c.8592A>G (p.Glu2864=) c.8373A>G (p.Glu2791=) c.6582A>G (p.Glu2194=) c.6132A>G (p.Glu2044=) c.5340A>G (p.Glu1780=) c.8502A>G (p.Glu2834=) | |
8 | g.60865444A>T | CA371310009 | CHD7 | n.1681A>T n.612A>T c.*1564A>T (n.*1564A>T) c.8505A>T (p.Glu2835Asp) c.2358A>T (p.Glu786Asp) n.551A>T c.8595A>T (p.Glu2865Asp) c.8592A>T (p.Glu2864Asp) c.8373A>T (p.Glu2791Asp) c.6582A>T (p.Glu2194Asp) c.6132A>T (p.Glu2044Asp) c.5340A>T (p.Glu1780Asp) c.8502A>T (p.Glu2834Asp) | |
8 | g.60865445C>A | CA371310013 | CHD7 | n.1682C>A n.613C>A c.*1565C>A (n.*1565C>A) c.8506C>A (p.Pro2836Thr) c.2359C>A (p.Pro787Thr) n.552C>A c.8596C>A (p.Pro2866Thr) c.8593C>A (p.Pro2865Thr) c.8374C>A (p.Pro2792Thr) c.6583C>A (p.Pro2195Thr) c.6133C>A (p.Pro2045Thr) c.5341C>A (p.Pro1781Thr) c.8503C>A (p.Pro2835Thr) | |
8 | g.60865445C= | CA1788130431 | CHD7 | n.1682C= n.613C= c.*1565C= (n.*1565C=) c.8506C= (p.Pro2836=) c.2359C= (p.Pro787=) n.552C= c.8596C= (p.Pro2866=) c.8593C= (p.Pro2865=) c.8374C= (p.Pro2792=) c.6583C= (p.Pro2195=) c.6133C= (p.Pro2045=) c.5341C= (p.Pro1781=) c.8503C= (p.Pro2835=) | |
8 | g.60865445C>G | CA371310017 | CHD7 | n.1682C>G n.613C>G c.*1565C>G (n.*1565C>G) c.8506C>G (p.Pro2836Ala) c.2359C>G (p.Pro787Ala) n.552C>G c.8596C>G (p.Pro2866Ala) c.8593C>G (p.Pro2865Ala) c.8374C>G (p.Pro2792Ala) c.6583C>G (p.Pro2195Ala) c.6133C>G (p.Pro2045Ala) c.5341C>G (p.Pro1781Ala) c.8503C>G (p.Pro2835Ala) | |
8 | g.60865445C>T | CA371310020 | CHD7 | n.1682C>T n.613C>T c.*1565C>T (n.*1565C>T) c.8506C>T (p.Pro2836Ser) c.2359C>T (p.Pro787Ser) n.552C>T c.8596C>T (p.Pro2866Ser) c.8593C>T (p.Pro2865Ser) c.8374C>T (p.Pro2792Ser) c.6583C>T (p.Pro2195Ser) c.6133C>T (p.Pro2045Ser) c.5341C>T (p.Pro1781Ser) c.8503C>T (p.Pro2835Ser) | dbSNP |
8 | g.60865446del | CA2695203186 | CHD7 | n.1683del n.614del c.*1566del (n.*1566del) c.8507del (p.Pro2836ArgfsTer?) c.2360del (p.Pro787ArgfsTer?) n.553del c.8597del (p.Pro2866ArgfsTer?) c.8594del (p.Pro2865ArgfsTer?) c.8375del (p.Pro2792ArgfsTer?) c.6584del (p.Pro2195ArgfsTer?) c.6134del (p.Pro2045ArgfsTer?) c.5342del (p.Pro1781ArgfsTer?) c.8504del (p.Pro2835ArgfsTer?) | |
8 | g.60865446C>A | CA371310024 | CHD7 | n.1683C>A n.614C>A c.*1566C>A (n.*1566C>A) c.8507C>A (p.Pro2836Gln) c.2360C>A (p.Pro787Gln) n.553C>A c.8597C>A (p.Pro2866Gln) c.8594C>A (p.Pro2865Gln) c.8375C>A (p.Pro2792Gln) c.6584C>A (p.Pro2195Gln) c.6134C>A (p.Pro2045Gln) c.5342C>A (p.Pro1781Gln) c.8504C>A (p.Pro2835Gln) | |
8 | g.60865446C= | CA1788130437 | CHD7 | n.1683C= n.614C= c.*1566C= (n.*1566C=) c.8507C= (p.Pro2836=) c.2360C= (p.Pro787=) n.553C= c.8597C= (p.Pro2866=) c.8594C= (p.Pro2865=) c.8375C= (p.Pro2792=) c.6584C= (p.Pro2195=) c.6134C= (p.Pro2045=) c.5342C= (p.Pro1781=) c.8504C= (p.Pro2835=) | |
8 | g.60865446C>G | CA371310032 | CHD7 | n.1683C>G n.614C>G c.*1566C>G (n.*1566C>G) c.8507C>G (p.Pro2836Arg) c.2360C>G (p.Pro787Arg) n.553C>G c.8597C>G (p.Pro2866Arg) c.8594C>G (p.Pro2865Arg) c.8375C>G (p.Pro2792Arg) c.6584C>G (p.Pro2195Arg) c.6134C>G (p.Pro2045Arg) c.5342C>G (p.Pro1781Arg) c.8504C>G (p.Pro2835Arg) | |
8 | g.60865446C>T | CA177329622 | CHD7 | n.1683C>T n.614C>T c.*1566C>T (n.*1566C>T) c.8507C>T (p.Pro2836Leu) c.2360C>T (p.Pro787Leu) n.553C>T c.8597C>T (p.Pro2866Leu) c.8594C>T (p.Pro2865Leu) c.8375C>T (p.Pro2792Leu) c.6584C>T (p.Pro2195Leu) c.6134C>T (p.Pro2045Leu) c.5342C>T (p.Pro1781Leu) c.8504C>T (p.Pro2835Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865447G>A | CA4761026 | CHD7 | n.1684G>A n.615G>A c.*1567G>A (n.*1567G>A) c.8508G>A (p.Pro2836=) c.2361G>A (p.Pro787=) n.554G>A c.8598G>A (p.Pro2866=) c.8595G>A (p.Pro2865=) c.8376G>A (p.Pro2792=) c.6585G>A (p.Pro2195=) c.6135G>A (p.Pro2045=) c.5343G>A (p.Pro1781=) c.8505G>A (p.Pro2835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.60865447G>C | CA461106150 | CHD7 | n.1684G>C n.615G>C c.*1567G>C (n.*1567G>C) c.8508G>C (p.Pro2836=) c.2361G>C (p.Pro787=) n.554G>C c.8598G>C (p.Pro2866=) c.8595G>C (p.Pro2865=) c.8376G>C (p.Pro2792=) c.6585G>C (p.Pro2195=) c.6135G>C (p.Pro2045=) c.5343G>C (p.Pro1781=) c.8505G>C (p.Pro2835=) | dbSNP gnomAD v4 |
8 | g.60865447G= | CA1788130448 | CHD7 | n.1684G= n.615G= c.*1567G= (n.*1567G=) c.8508G= (p.Pro2836=) c.2361G= (p.Pro787=) n.554G= c.8598G= (p.Pro2866=) c.8595G= (p.Pro2865=) c.8376G= (p.Pro2792=) c.6585G= (p.Pro2195=) c.6135G= (p.Pro2045=) c.5343G= (p.Pro1781=) c.8505G= (p.Pro2835=) | |
8 | g.60865447G>T | CA461106152 | CHD7 | n.1684G>T n.615G>T c.*1567G>T (n.*1567G>T) c.8508G>T (p.Pro2836=) c.2361G>T (p.Pro787=) n.554G>T c.8598G>T (p.Pro2866=) c.8595G>T (p.Pro2865=) c.8376G>T (p.Pro2792=) c.6585G>T (p.Pro2195=) c.6135G>T (p.Pro2045=) c.5343G>T (p.Pro1781=) c.8505G>T (p.Pro2835=) | |
8 | g.60865448del | CA2780535767 | CHD7 | n.1685del n.616del c.*1568del (n.*1568del) c.8509del (p.Glu2837LysfsTer?) c.2362del (p.Glu788LysfsTer?) n.555del c.8599del (p.Glu2867LysfsTer?) c.8596del (p.Glu2866LysfsTer?) c.8377del (p.Glu2793LysfsTer?) c.6586del (p.Glu2196LysfsTer?) c.6136del (p.Glu2046LysfsTer?) c.5344del (p.Glu1782LysfsTer?) c.8506del (p.Glu2836LysfsTer?) | |
8 | g.60865448G>A | CA4761027 | CHD7 | n.1685G>A n.616G>A c.*1568G>A (n.*1568G>A) c.8509G>A (p.Glu2837Lys) c.2362G>A (p.Glu788Lys) n.555G>A c.8599G>A (p.Glu2867Lys) c.8596G>A (p.Glu2866Lys) c.8377G>A (p.Glu2793Lys) c.6586G>A (p.Glu2196Lys) c.6136G>A (p.Glu2046Lys) c.5344G>A (p.Glu1782Lys) c.8506G>A (p.Glu2836Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865448G>C | CA371310042 | CHD7 | n.1685G>C n.616G>C c.*1568G>C (n.*1568G>C) c.8509G>C (p.Glu2837Gln) c.2362G>C (p.Glu788Gln) n.555G>C c.8599G>C (p.Glu2867Gln) c.8596G>C (p.Glu2866Gln) c.8377G>C (p.Glu2793Gln) c.6586G>C (p.Glu2196Gln) c.6136G>C (p.Glu2046Gln) c.5344G>C (p.Glu1782Gln) c.8506G>C (p.Glu2836Gln) | |
8 | g.60865448G= | CA1788130451 | CHD7 | n.1685G= n.616G= c.*1568G= (n.*1568G=) c.8509G= (p.Glu2837=) c.2362G= (p.Glu788=) n.555G= c.8599G= (p.Glu2867=) c.8596G= (p.Glu2866=) c.8377G= (p.Glu2793=) c.6586G= (p.Glu2196=) c.6136G= (p.Glu2046=) c.5344G= (p.Glu1782=) c.8506G= (p.Glu2836=) | |
8 | g.60865448G>T | CA371310043 | CHD7 | n.1685G>T n.616G>T c.*1568G>T (n.*1568G>T) c.8509G>T (p.Glu2837Ter) c.2362G>T (p.Glu788Ter) n.555G>T c.8599G>T (p.Glu2867Ter) c.8596G>T (p.Glu2866Ter) c.8377G>T (p.Glu2793Ter) c.6586G>T (p.Glu2196Ter) c.6136G>T (p.Glu2046Ter) c.5344G>T (p.Glu1782Ter) c.8506G>T (p.Glu2836Ter) | ClinVar |
8 | g.60865449A= | CA1788130457 | CHD7 | n.1686A= n.617A= c.*1569A= (n.*1569A=) c.8510A= (p.Glu2837=) c.2363A= (p.Glu788=) n.556A= c.8600A= (p.Glu2867=) c.8597A= (p.Glu2866=) c.8378A= (p.Glu2793=) c.6587A= (p.Glu2196=) c.6137A= (p.Glu2046=) c.5345A= (p.Glu1782=) c.8507A= (p.Glu2836=) | |
8 | g.60865449A>C | CA371310050 | CHD7 | n.1686A>C n.617A>C c.*1569A>C (n.*1569A>C) c.8510A>C (p.Glu2837Ala) c.2363A>C (p.Glu788Ala) n.556A>C c.8600A>C (p.Glu2867Ala) c.8597A>C (p.Glu2866Ala) c.8378A>C (p.Glu2793Ala) c.6587A>C (p.Glu2196Ala) c.6137A>C (p.Glu2046Ala) c.5345A>C (p.Glu1782Ala) c.8507A>C (p.Glu2836Ala) | |
8 | g.60865449A>G | CA177329643 | CHD7 | n.1686A>G n.617A>G c.*1569A>G (n.*1569A>G) c.8510A>G (p.Glu2837Gly) c.2363A>G (p.Glu788Gly) n.556A>G c.8600A>G (p.Glu2867Gly) c.8597A>G (p.Glu2866Gly) c.8378A>G (p.Glu2793Gly) c.6587A>G (p.Glu2196Gly) c.6137A>G (p.Glu2046Gly) c.5345A>G (p.Glu1782Gly) c.8507A>G (p.Glu2836Gly) | ClinVar dbSNP |
8 | g.60865449A>T | CA371310060 | CHD7 | n.1686A>T n.617A>T c.*1569A>T (n.*1569A>T) c.8510A>T (p.Glu2837Val) c.2363A>T (p.Glu788Val) n.556A>T c.8600A>T (p.Glu2867Val) c.8597A>T (p.Glu2866Val) c.8378A>T (p.Glu2793Val) c.6587A>T (p.Glu2196Val) c.6137A>T (p.Glu2046Val) c.5345A>T (p.Glu1782Val) c.8507A>T (p.Glu2836Val) | |
8 | g.60865450A>C | CA371310068 | CHD7 | n.1687A>C n.618A>C c.*1570A>C (n.*1570A>C) c.8511A>C (p.Glu2837Asp) c.2364A>C (p.Glu788Asp) n.557A>C c.8601A>C (p.Glu2867Asp) c.8598A>C (p.Glu2866Asp) c.8379A>C (p.Glu2793Asp) c.6588A>C (p.Glu2196Asp) c.6138A>C (p.Glu2046Asp) c.5346A>C (p.Glu1782Asp) c.8508A>C (p.Glu2836Asp) | |
8 | g.60865450A>G | CA461106156 | CHD7 | n.1687A>G n.618A>G c.*1570A>G (n.*1570A>G) c.8511A>G (p.Glu2837=) c.2364A>G (p.Glu788=) n.557A>G c.8601A>G (p.Glu2867=) c.8598A>G (p.Glu2866=) c.8379A>G (p.Glu2793=) c.6588A>G (p.Glu2196=) c.6138A>G (p.Glu2046=) c.5346A>G (p.Glu1782=) c.8508A>G (p.Glu2836=) | |
8 | g.60865450A>T | CA371310072 | CHD7 | n.1687A>T n.618A>T c.*1570A>T (n.*1570A>T) c.8511A>T (p.Glu2837Asp) c.2364A>T (p.Glu788Asp) n.557A>T c.8601A>T (p.Glu2867Asp) c.8598A>T (p.Glu2866Asp) c.8379A>T (p.Glu2793Asp) c.6588A>T (p.Glu2196Asp) c.6138A>T (p.Glu2046Asp) c.5346A>T (p.Glu1782Asp) c.8508A>T (p.Glu2836Asp) | |
8 | g.60865451del | CA2695203187 | CHD7 | n.1688del n.619del c.*1571del (n.*1571del) c.8512del (p.Asp2838ThrfsTer?) c.2365del (p.Asp789ThrfsTer?) n.558del c.8602del (p.Asp2868ThrfsTer?) c.8599del (p.Asp2867ThrfsTer?) c.8380del (p.Asp2794ThrfsTer?) c.6589del (p.Asp2197ThrfsTer?) c.6139del (p.Asp2047ThrfsTer?) c.5347del (p.Asp1783ThrfsTer?) c.8509del (p.Asp2837ThrfsTer?) | |
8 | g.60865451G>A | CA371310083 | CHD7 | n.1688G>A n.619G>A c.*1571G>A (n.*1571G>A) c.8512G>A (p.Asp2838Asn) c.2365G>A (p.Asp789Asn) n.558G>A c.8602G>A (p.Asp2868Asn) c.8599G>A (p.Asp2867Asn) c.8380G>A (p.Asp2794Asn) c.6589G>A (p.Asp2197Asn) c.6139G>A (p.Asp2047Asn) c.5347G>A (p.Asp1783Asn) c.8509G>A (p.Asp2837Asn) | |
8 | g.60865451G>C | CA371310084 | CHD7 | n.1688G>C n.619G>C c.*1571G>C (n.*1571G>C) c.8512G>C (p.Asp2838His) c.2365G>C (p.Asp789His) n.558G>C c.8602G>C (p.Asp2868His) c.8599G>C (p.Asp2867His) c.8380G>C (p.Asp2794His) c.6589G>C (p.Asp2197His) c.6139G>C (p.Asp2047His) c.5347G>C (p.Asp1783His) c.8509G>C (p.Asp2837His) | |
8 | g.60865451G>T | CA371310085 | CHD7 | n.1688G>T n.619G>T c.*1571G>T (n.*1571G>T) c.8512G>T (p.Asp2838Tyr) c.2365G>T (p.Asp789Tyr) n.558G>T c.8602G>T (p.Asp2868Tyr) c.8599G>T (p.Asp2867Tyr) c.8380G>T (p.Asp2794Tyr) c.6589G>T (p.Asp2197Tyr) c.6139G>T (p.Asp2047Tyr) c.5347G>T (p.Asp1783Tyr) c.8509G>T (p.Asp2837Tyr) | |
8 | g.60865452A>C | CA371310088 | CHD7 | n.1689A>C n.620A>C c.*1572A>C (n.*1572A>C) c.8513A>C (p.Asp2838Ala) c.2366A>C (p.Asp789Ala) n.559A>C c.8603A>C (p.Asp2868Ala) c.8600A>C (p.Asp2867Ala) c.8381A>C (p.Asp2794Ala) c.6590A>C (p.Asp2197Ala) c.6140A>C (p.Asp2047Ala) c.5348A>C (p.Asp1783Ala) c.8510A>C (p.Asp2837Ala) | |
8 | g.60865452A>G | CA371310091 | CHD7 | n.1689A>G n.620A>G c.*1572A>G (n.*1572A>G) c.8513A>G (p.Asp2838Gly) c.2366A>G (p.Asp789Gly) n.559A>G c.8603A>G (p.Asp2868Gly) c.8600A>G (p.Asp2867Gly) c.8381A>G (p.Asp2794Gly) c.6590A>G (p.Asp2197Gly) c.6140A>G (p.Asp2047Gly) c.5348A>G (p.Asp1783Gly) c.8510A>G (p.Asp2837Gly) | gnomAD v4 |
8 | g.60865452A>T | CA371310095 | CHD7 | n.1689A>T n.620A>T c.*1572A>T (n.*1572A>T) c.8513A>T (p.Asp2838Val) c.2366A>T (p.Asp789Val) n.559A>T c.8603A>T (p.Asp2868Val) c.8600A>T (p.Asp2867Val) c.8381A>T (p.Asp2794Val) c.6590A>T (p.Asp2197Val) c.6140A>T (p.Asp2047Val) c.5348A>T (p.Asp1783Val) c.8510A>T (p.Asp2837Val) | |
8 | g.60865453C>A | CA371310099 | CHD7 | n.1690C>A n.621C>A c.*1573C>A (n.*1573C>A) c.8514C>A (p.Asp2838Glu) c.2367C>A (p.Asp789Glu) n.560C>A c.8604C>A (p.Asp2868Glu) c.8601C>A (p.Asp2867Glu) c.8382C>A (p.Asp2794Glu) c.6591C>A (p.Asp2197Glu) c.6141C>A (p.Asp2047Glu) c.5349C>A (p.Asp1783Glu) c.8511C>A (p.Asp2837Glu) | |
8 | g.60865453C= | CA1788130461 | CHD7 | n.1690C= n.621C= c.*1573C= (n.*1573C=) c.8514C= (p.Asp2838=) c.2367C= (p.Asp789=) n.560C= c.8604C= (p.Asp2868=) c.8601C= (p.Asp2867=) c.8382C= (p.Asp2794=) c.6591C= (p.Asp2197=) c.6141C= (p.Asp2047=) c.5349C= (p.Asp1783=) c.8511C= (p.Asp2837=) | |
8 | g.60865453C>G | CA371310104 | CHD7 | n.1690C>G n.621C>G c.*1573C>G (n.*1573C>G) c.8514C>G (p.Asp2838Glu) c.2367C>G (p.Asp789Glu) n.560C>G c.8604C>G (p.Asp2868Glu) c.8601C>G (p.Asp2867Glu) c.8382C>G (p.Asp2794Glu) c.6591C>G (p.Asp2197Glu) c.6141C>G (p.Asp2047Glu) c.5349C>G (p.Asp1783Glu) c.8511C>G (p.Asp2837Glu) | |
8 | g.60865453C>T | CA461106160 | CHD7 | n.1690C>T n.621C>T c.*1573C>T (n.*1573C>T) c.8514C>T (p.Asp2838=) c.2367C>T (p.Asp789=) n.560C>T c.8604C>T (p.Asp2868=) c.8601C>T (p.Asp2867=) c.8382C>T (p.Asp2794=) c.6591C>T (p.Asp2197=) c.6141C>T (p.Asp2047=) c.5349C>T (p.Asp1783=) c.8511C>T (p.Asp2837=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.60865454A>C | CA371310110 | CHD7 | n.1691A>C n.622A>C c.*1574A>C (n.*1574A>C) c.8515A>C (p.Ser2839Arg) c.2368A>C (p.Ser790Arg) n.561A>C c.8605A>C (p.Ser2869Arg) c.8602A>C (p.Ser2868Arg) c.8383A>C (p.Ser2795Arg) c.6592A>C (p.Ser2198Arg) c.6142A>C (p.Ser2048Arg) c.5350A>C (p.Ser1784Arg) c.8512A>C (p.Ser2838Arg) | |
8 | g.60865454A>G | CA371310111 | CHD7 | n.1691A>G n.622A>G c.*1574A>G (n.*1574A>G) c.8515A>G (p.Ser2839Gly) c.2368A>G (p.Ser790Gly) n.561A>G c.8605A>G (p.Ser2869Gly) c.8602A>G (p.Ser2868Gly) c.8383A>G (p.Ser2795Gly) c.6592A>G (p.Ser2198Gly) c.6142A>G (p.Ser2048Gly) c.5350A>G (p.Ser1784Gly) c.8512A>G (p.Ser2838Gly) | gnomAD v4 |
8 | g.60865454A>T | CA371310107 | CHD7 | n.1691A>T n.622A>T c.*1574A>T (n.*1574A>T) c.8515A>T (p.Ser2839Cys) c.2368A>T (p.Ser790Cys) n.561A>T c.8605A>T (p.Ser2869Cys) c.8602A>T (p.Ser2868Cys) c.8383A>T (p.Ser2795Cys) c.6592A>T (p.Ser2198Cys) c.6142A>T (p.Ser2048Cys) c.5350A>T (p.Ser1784Cys) c.8512A>T (p.Ser2838Cys) | |
8 | g.60865455G>A | CA177329655 | CHD7 | n.1692G>A n.623G>A c.*1575G>A (n.*1575G>A) c.8516G>A (p.Ser2839Asn) c.2369G>A (p.Ser790Asn) n.562G>A c.8606G>A (p.Ser2869Asn) c.8603G>A (p.Ser2868Asn) c.8384G>A (p.Ser2795Asn) c.6593G>A (p.Ser2198Asn) c.6143G>A (p.Ser2048Asn) c.5351G>A (p.Ser1784Asn) c.8513G>A (p.Ser2838Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865455G>C | CA371310118 | CHD7 | n.1692G>C n.623G>C c.*1575G>C (n.*1575G>C) c.8516G>C (p.Ser2839Thr) c.2369G>C (p.Ser790Thr) n.562G>C c.8606G>C (p.Ser2869Thr) c.8603G>C (p.Ser2868Thr) c.8384G>C (p.Ser2795Thr) c.6593G>C (p.Ser2198Thr) c.6143G>C (p.Ser2048Thr) c.5351G>C (p.Ser1784Thr) c.8513G>C (p.Ser2838Thr) | |
8 | g.60865455G= | CA1788130467 | CHD7 | n.1692G= n.623G= c.*1575G= (n.*1575G=) c.8516G= (p.Ser2839=) c.2369G= (p.Ser790=) n.562G= c.8606G= (p.Ser2869=) c.8603G= (p.Ser2868=) c.8384G= (p.Ser2795=) c.6593G= (p.Ser2198=) c.6143G= (p.Ser2048=) c.5351G= (p.Ser1784=) c.8513G= (p.Ser2838=) | |
8 | g.60865455G>T | CA371310124 | CHD7 | n.1692G>T n.623G>T c.*1575G>T (n.*1575G>T) c.8516G>T (p.Ser2839Ile) c.2369G>T (p.Ser790Ile) n.562G>T c.8606G>T (p.Ser2869Ile) c.8603G>T (p.Ser2868Ile) c.8384G>T (p.Ser2795Ile) c.6593G>T (p.Ser2198Ile) c.6143G>T (p.Ser2048Ile) c.5351G>T (p.Ser1784Ile) c.8513G>T (p.Ser2838Ile) | |
8 | g.60865456C>A | CA371310127 | CHD7 | n.1693C>A n.624C>A c.*1576C>A (n.*1576C>A) c.8517C>A (p.Ser2839Arg) c.2370C>A (p.Ser790Arg) n.563C>A c.8607C>A (p.Ser2869Arg) c.8604C>A (p.Ser2868Arg) c.8385C>A (p.Ser2795Arg) c.6594C>A (p.Ser2198Arg) c.6144C>A (p.Ser2048Arg) c.5352C>A (p.Ser1784Arg) c.8514C>A (p.Ser2838Arg) | |
8 | g.60865456C>G | CA371310131 | CHD7 | n.1693C>G n.624C>G c.*1576C>G (n.*1576C>G) c.8517C>G (p.Ser2839Arg) c.2370C>G (p.Ser790Arg) n.563C>G c.8607C>G (p.Ser2869Arg) c.8604C>G (p.Ser2868Arg) c.8385C>G (p.Ser2795Arg) c.6594C>G (p.Ser2198Arg) c.6144C>G (p.Ser2048Arg) c.5352C>G (p.Ser1784Arg) c.8514C>G (p.Ser2838Arg) | |
8 | g.60865456C>T | CA461106165 | CHD7 | n.1693C>T n.624C>T c.*1576C>T (n.*1576C>T) c.8517C>T (p.Ser2839=) c.2370C>T (p.Ser790=) n.563C>T c.8607C>T (p.Ser2869=) c.8604C>T (p.Ser2868=) c.8385C>T (p.Ser2795=) c.6594C>T (p.Ser2198=) c.6144C>T (p.Ser2048=) c.5352C>T (p.Ser1784=) c.8514C>T (p.Ser2838=) | |
8 | g.60865456_60865457delinsCA | CA1788130484 | CHD7 | n.1693_1694delinsCA n.624_625delinsCA c.*1576_*1577delinsCA (n.*1576_*1577delinsCA) c.8517_8518delinsCA (p.Ser2839=) c.2370_2371delinsCA (p.Ser790=) n.563_564delinsCA c.8607_8608delinsCA (p.Ser2869=) c.8604_8605delinsCA (p.Ser2868=) c.8385_8386delinsCA (p.Ser2795=) c.6594_6595delinsCA (p.Ser2198=) c.6144_6145delinsCA (p.Ser2048=) c.5352_5353delinsCA (p.Ser1784=) c.8514_8515delinsCA (p.Ser2838=) | |
8 | g.60865457del | CA16618686 | CHD7 | n.1694del n.625del c.*1577del (n.*1577del) c.8518del (p.Thr2840LeufsTer?) c.2371del (p.Thr791LeufsTer?) n.564del c.8608del (p.Thr2870LeufsTer?) c.8605del (p.Thr2869LeufsTer?) c.8386del (p.Thr2796LeufsTer?) c.6595del (p.Thr2199LeufsTer?) c.6145del (p.Thr2049LeufsTer?) c.5353del (p.Thr1785LeufsTer?) c.8515del (p.Thr2839LeufsTer?) | ClinVar dbSNP |
8 | g.60865457A= | CA1788130502 | CHD7 | n.1694A= n.625A= c.*1577A= (n.*1577A=) c.8518A= (p.Thr2840=) c.2371A= (p.Thr791=) n.564A= c.8608A= (p.Thr2870=) c.8605A= (p.Thr2869=) c.8386A= (p.Thr2796=) c.6595A= (p.Thr2199=) c.6145A= (p.Thr2049=) c.5353A= (p.Thr1785=) c.8515A= (p.Thr2839=) | |
8 | g.60865457A>C | CA371310140 | CHD7 | n.1694A>C n.625A>C c.*1577A>C (n.*1577A>C) c.8518A>C (p.Thr2840Pro) c.2371A>C (p.Thr791Pro) n.564A>C c.8608A>C (p.Thr2870Pro) c.8605A>C (p.Thr2869Pro) c.8386A>C (p.Thr2796Pro) c.6595A>C (p.Thr2199Pro) c.6145A>C (p.Thr2049Pro) c.5353A>C (p.Thr1785Pro) c.8515A>C (p.Thr2839Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.60865457A>G | CA371310136 | CHD7 | n.1694A>G n.625A>G c.*1577A>G (n.*1577A>G) c.8518A>G (p.Thr2840Ala) c.2371A>G (p.Thr791Ala) n.564A>G c.8608A>G (p.Thr2870Ala) c.8605A>G (p.Thr2869Ala) c.8386A>G (p.Thr2796Ala) c.6595A>G (p.Thr2199Ala) c.6145A>G (p.Thr2049Ala) c.5353A>G (p.Thr1785Ala) c.8515A>G (p.Thr2839Ala) | |
8 | g.60865457A>T | CA371310134 | CHD7 | n.1694A>T n.625A>T c.*1577A>T (n.*1577A>T) c.8518A>T (p.Thr2840Ser) c.2371A>T (p.Thr791Ser) n.564A>T c.8608A>T (p.Thr2870Ser) c.8605A>T (p.Thr2869Ser) c.8386A>T (p.Thr2796Ser) c.6595A>T (p.Thr2199Ser) c.6145A>T (p.Thr2049Ser) c.5353A>T (p.Thr1785Ser) c.8515A>T (p.Thr2839Ser) | |
8 | g.60865458C>A | CA371310143 | CHD7 | n.1695C>A n.626C>A c.*1578C>A (n.*1578C>A) c.8519C>A (p.Thr2840Asn) c.2372C>A (p.Thr791Asn) n.565C>A c.8609C>A (p.Thr2870Asn) c.8606C>A (p.Thr2869Asn) c.8387C>A (p.Thr2796Asn) c.6596C>A (p.Thr2199Asn) c.6146C>A (p.Thr2049Asn) c.5354C>A (p.Thr1785Asn) c.8516C>A (p.Thr2839Asn) | COSMIC |
8 | g.60865458C>G | CA371310145 | CHD7 | n.1695C>G n.626C>G c.*1578C>G (n.*1578C>G) c.8519C>G (p.Thr2840Ser) c.2372C>G (p.Thr791Ser) n.565C>G c.8609C>G (p.Thr2870Ser) c.8606C>G (p.Thr2869Ser) c.8387C>G (p.Thr2796Ser) c.6596C>G (p.Thr2199Ser) c.6146C>G (p.Thr2049Ser) c.5354C>G (p.Thr1785Ser) c.8516C>G (p.Thr2839Ser) | |
8 | g.60865458C>T | CA371310150 | CHD7 | n.1695C>T n.626C>T c.*1578C>T (n.*1578C>T) c.8519C>T (p.Thr2840Ile) c.2372C>T (p.Thr791Ile) n.565C>T c.8609C>T (p.Thr2870Ile) c.8606C>T (p.Thr2869Ile) c.8387C>T (p.Thr2796Ile) c.6596C>T (p.Thr2199Ile) c.6146C>T (p.Thr2049Ile) c.5354C>T (p.Thr1785Ile) c.8516C>T (p.Thr2839Ile) | |
8 | g.60865459T>A | CA461106173 | CHD7 | n.1696T>A n.627T>A c.*1579T>A (n.*1579T>A) c.8520T>A (p.Thr2840=) c.2373T>A (p.Thr791=) n.566T>A c.8610T>A (p.Thr2870=) c.8607T>A (p.Thr2869=) c.8388T>A (p.Thr2796=) c.6597T>A (p.Thr2199=) c.6147T>A (p.Thr2049=) c.5355T>A (p.Thr1785=) c.8517T>A (p.Thr2839=) | |
8 | g.60865459T>C | CA461106175 | CHD7 | n.1696T>C n.627T>C c.*1579T>C (n.*1579T>C) c.8520T>C (p.Thr2840=) c.2373T>C (p.Thr791=) n.566T>C c.8610T>C (p.Thr2870=) c.8607T>C (p.Thr2869=) c.8388T>C (p.Thr2796=) c.6597T>C (p.Thr2199=) c.6147T>C (p.Thr2049=) c.5355T>C (p.Thr1785=) c.8517T>C (p.Thr2839=) | |
8 | g.60865459T>G | CA461106171 | CHD7 | n.1696T>G n.627T>G c.*1579T>G (n.*1579T>G) c.8520T>G (p.Thr2840=) c.2373T>G (p.Thr791=) n.566T>G c.8610T>G (p.Thr2870=) c.8607T>G (p.Thr2869=) c.8388T>G (p.Thr2796=) c.6597T>G (p.Thr2199=) c.6147T>G (p.Thr2049=) c.5355T>G (p.Thr1785=) c.8517T>G (p.Thr2839=) | |
8 | g.60865460T>A | CA371310155 | CHD7 | n.1697T>A n.628T>A c.*1580T>A (n.*1580T>A) c.8521T>A (p.Ser2841Thr) c.2374T>A (p.Ser792Thr) c.8611T>A (p.Ser2871Thr) c.8608T>A (p.Ser2870Thr) c.8389T>A (p.Ser2797Thr) c.6598T>A (p.Ser2200Thr) c.6148T>A (p.Ser2050Thr) c.5356T>A (p.Ser1786Thr) c.8518T>A (p.Ser2840Thr) | |
8 | g.60865460T>C | CA371310160 | CHD7 | n.1697T>C n.628T>C c.*1580T>C (n.*1580T>C) c.8521T>C (p.Ser2841Pro) c.2374T>C (p.Ser792Pro) c.8611T>C (p.Ser2871Pro) c.8608T>C (p.Ser2870Pro) c.8389T>C (p.Ser2797Pro) c.6598T>C (p.Ser2200Pro) c.6148T>C (p.Ser2050Pro) c.5356T>C (p.Ser1786Pro) c.8518T>C (p.Ser2840Pro) | |
8 | g.60865460T>G | CA371310164 | CHD7 | n.1697T>G n.628T>G c.*1580T>G (n.*1580T>G) c.8521T>G (p.Ser2841Ala) c.2374T>G (p.Ser792Ala) c.8611T>G (p.Ser2871Ala) c.8608T>G (p.Ser2870Ala) c.8389T>G (p.Ser2797Ala) c.6598T>G (p.Ser2200Ala) c.6148T>G (p.Ser2050Ala) c.5356T>G (p.Ser1786Ala) c.8518T>G (p.Ser2840Ala) | |
8 | g.60865461C>A | CA4761028 | CHD7 | n.1698C>A n.629C>A c.*1581C>A (n.*1581C>A) c.8522C>A (p.Ser2841Ter) c.2375C>A (p.Ser792Ter) c.8612C>A (p.Ser2871Ter) c.8609C>A (p.Ser2870Ter) c.8390C>A (p.Ser2797Ter) c.6599C>A (p.Ser2200Ter) c.6149C>A (p.Ser2050Ter) c.5357C>A (p.Ser1786Ter) c.8519C>A (p.Ser2840Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.60865461C= | CA1788130508 | CHD7 | n.1698C= n.629C= c.*1581C= (n.*1581C=) c.8522C= (p.Ser2841=) c.2375C= (p.Ser792=) c.8612C= (p.Ser2871=) c.8609C= (p.Ser2870=) c.8390C= (p.Ser2797=) c.6599C= (p.Ser2200=) c.6149C= (p.Ser2050=) c.5357C= (p.Ser1786=) c.8519C= (p.Ser2840=) | |
8 | g.60865461C>G | CA371310171 | CHD7 | n.1698C>G n.629C>G c.*1581C>G (n.*1581C>G) c.8522C>G (p.Ser2841Ter) c.2375C>G (p.Ser792Ter) c.8612C>G (p.Ser2871Ter) c.8609C>G (p.Ser2870Ter) c.8390C>G (p.Ser2797Ter) c.6599C>G (p.Ser2200Ter) c.6149C>G (p.Ser2050Ter) c.5357C>G (p.Ser1786Ter) c.8519C>G (p.Ser2840Ter) | |
8 | g.60865461C>T | CA371310170 | CHD7 | n.1698C>T n.629C>T c.*1581C>T (n.*1581C>T) c.8522C>T (p.Ser2841Leu) c.2375C>T (p.Ser792Leu) c.8612C>T (p.Ser2871Leu) c.8609C>T (p.Ser2870Leu) c.8390C>T (p.Ser2797Leu) c.6599C>T (p.Ser2200Leu) c.6149C>T (p.Ser2050Leu) c.5357C>T (p.Ser1786Leu) c.8519C>T (p.Ser2840Leu) | |
8 | g.60865462A>C | CA461106183 | CHD7 | n.1699A>C n.630A>C c.*1582A>C (n.*1582A>C) c.8523A>C (p.Ser2841=) c.2376A>C (p.Ser792=) c.8613A>C (p.Ser2871=) c.8610A>C (p.Ser2870=) c.8391A>C (p.Ser2797=) c.6600A>C (p.Ser2200=) c.6150A>C (p.Ser2050=) c.5358A>C (p.Ser1786=) c.8520A>C (p.Ser2840=) | |
8 | g.60865462A>G | CA461106182 | CHD7 | n.1699A>G n.630A>G c.*1582A>G (n.*1582A>G) c.8523A>G (p.Ser2841=) c.2376A>G (p.Ser792=) c.8613A>G (p.Ser2871=) c.8610A>G (p.Ser2870=) c.8391A>G (p.Ser2797=) c.6600A>G (p.Ser2200=) c.6150A>G (p.Ser2050=) c.5358A>G (p.Ser1786=) c.8520A>G (p.Ser2840=) | |
8 | g.60865462A>T | CA461106181 | CHD7 | n.1699A>T n.630A>T c.*1582A>T (n.*1582A>T) c.8523A>T (p.Ser2841=) c.2376A>T (p.Ser792=) c.8613A>T (p.Ser2871=) c.8610A>T (p.Ser2870=) c.8391A>T (p.Ser2797=) c.6600A>T (p.Ser2200=) c.6150A>T (p.Ser2050=) c.5358A>T (p.Ser1786=) c.8520A>T (p.Ser2840=) | |
8 | g.60865463A>C | CA371310173 | CHD7 | n.1700A>C n.631A>C c.*1583A>C (n.*1583A>C) c.8524A>C (p.Lys2842Gln) c.2377A>C (p.Lys793Gln) c.8614A>C (p.Lys2872Gln) c.8611A>C (p.Lys2871Gln) c.8392A>C (p.Lys2798Gln) c.6601A>C (p.Lys2201Gln) c.6151A>C (p.Lys2051Gln) c.5359A>C (p.Lys1787Gln) c.8521A>C (p.Lys2841Gln) | |
8 | g.60865463A>G | CA371310175 | CHD7 | n.1700A>G n.631A>G c.*1583A>G (n.*1583A>G) c.8524A>G (p.Lys2842Glu) c.2377A>G (p.Lys793Glu) c.8614A>G (p.Lys2872Glu) c.8611A>G (p.Lys2871Glu) c.8392A>G (p.Lys2798Glu) c.6601A>G (p.Lys2201Glu) c.6151A>G (p.Lys2051Glu) c.5359A>G (p.Lys1787Glu) c.8521A>G (p.Lys2841Glu) | gnomAD v4 |
8 | g.60865463A>T | CA371310186 | CHD7 | n.1700A>T n.631A>T c.*1583A>T (n.*1583A>T) c.8524A>T (p.Lys2842Ter) c.2377A>T (p.Lys793Ter) c.8614A>T (p.Lys2872Ter) c.8611A>T (p.Lys2871Ter) c.8392A>T (p.Lys2798Ter) c.6601A>T (p.Lys2201Ter) c.6151A>T (p.Lys2051Ter) c.5359A>T (p.Lys1787Ter) c.8521A>T (p.Lys2841Ter) | |
8 | g.60865464A>C | CA371310190 | CHD7 | n.1701A>C n.632A>C c.*1584A>C (n.*1584A>C) c.8525A>C (p.Lys2842Thr) c.2378A>C (p.Lys793Thr) c.8615A>C (p.Lys2872Thr) c.8612A>C (p.Lys2871Thr) c.8393A>C (p.Lys2798Thr) c.6602A>C (p.Lys2201Thr) c.6152A>C (p.Lys2051Thr) c.5360A>C (p.Lys1787Thr) c.8522A>C (p.Lys2841Thr) | |
8 | g.60865464A>G | CA371310191 | CHD7 | n.1701A>G n.632A>G c.*1584A>G (n.*1584A>G) c.8525A>G (p.Lys2842Arg) c.2378A>G (p.Lys793Arg) c.8615A>G (p.Lys2872Arg) c.8612A>G (p.Lys2871Arg) c.8393A>G (p.Lys2798Arg) c.6602A>G (p.Lys2201Arg) c.6152A>G (p.Lys2051Arg) c.5360A>G (p.Lys1787Arg) c.8522A>G (p.Lys2841Arg) | |
8 | g.60865464A>T | CA371310192 | CHD7 | n.1701A>T n.632A>T c.*1584A>T (n.*1584A>T) c.8525A>T (p.Lys2842Ile) c.2378A>T (p.Lys793Ile) c.8615A>T (p.Lys2872Ile) c.8612A>T (p.Lys2871Ile) c.8393A>T (p.Lys2798Ile) c.6602A>T (p.Lys2201Ile) c.6152A>T (p.Lys2051Ile) c.5360A>T (p.Lys1787Ile) c.8522A>T (p.Lys2841Ile) | |
8 | g.60865465A>C | CA371310195 | CHD7 | n.1702A>C n.633A>C c.*1585A>C (n.*1585A>C) c.8526A>C (p.Lys2842Asn) c.2379A>C (p.Lys793Asn) c.8616A>C (p.Lys2872Asn) c.8613A>C (p.Lys2871Asn) c.8394A>C (p.Lys2798Asn) c.6603A>C (p.Lys2201Asn) c.6153A>C (p.Lys2051Asn) c.5361A>C (p.Lys1787Asn) c.8523A>C (p.Lys2841Asn) | |
8 | g.60865465A>G | CA461106190 | CHD7 | n.1702A>G n.633A>G c.*1585A>G (n.*1585A>G) c.8526A>G (p.Lys2842=) c.2379A>G (p.Lys793=) c.8616A>G (p.Lys2872=) c.8613A>G (p.Lys2871=) c.8394A>G (p.Lys2798=) c.6603A>G (p.Lys2201=) c.6153A>G (p.Lys2051=) c.5361A>G (p.Lys1787=) c.8523A>G (p.Lys2841=) | |
8 | g.60865465A>T | CA371310200 | CHD7 | n.1702A>T n.633A>T c.*1585A>T (n.*1585A>T) c.8526A>T (p.Lys2842Asn) c.2379A>T (p.Lys793Asn) c.8616A>T (p.Lys2872Asn) c.8613A>T (p.Lys2871Asn) c.8394A>T (p.Lys2798Asn) c.6603A>T (p.Lys2201Asn) c.6153A>T (p.Lys2051Asn) c.5361A>T (p.Lys1787Asn) c.8523A>T (p.Lys2841Asn) | |
8 | g.60865466G>A | CA371310207 | CHD7 | n.1703G>A n.634G>A c.*1586G>A (n.*1586G>A) c.8527G>A (p.Gly2843Arg) c.2380G>A (p.Gly794Arg) c.8617G>A (p.Gly2873Arg) c.8614G>A (p.Gly2872Arg) c.8395G>A (p.Gly2799Arg) c.6604G>A (p.Gly2202Arg) c.6154G>A (p.Gly2052Arg) c.5362G>A (p.Gly1788Arg) c.8524G>A (p.Gly2842Arg) | |
8 | g.60865466G>C | CA371310211 | CHD7 | n.1703G>C n.634G>C c.*1586G>C (n.*1586G>C) c.8527G>C (p.Gly2843Arg) c.2380G>C (p.Gly794Arg) c.8617G>C (p.Gly2873Arg) c.8614G>C (p.Gly2872Arg) c.8395G>C (p.Gly2799Arg) c.6604G>C (p.Gly2202Arg) c.6154G>C (p.Gly2052Arg) c.5362G>C (p.Gly1788Arg) c.8524G>C (p.Gly2842Arg) | |
8 | g.60865466G>T | CA371310213 | CHD7 | n.1703G>T n.634G>T c.*1586G>T (n.*1586G>T) c.8527G>T (p.Gly2843Ter) c.2380G>T (p.Gly794Ter) c.8617G>T (p.Gly2873Ter) c.8614G>T (p.Gly2872Ter) c.8395G>T (p.Gly2799Ter) c.6604G>T (p.Gly2202Ter) c.6154G>T (p.Gly2052Ter) c.5362G>T (p.Gly1788Ter) c.8524G>T (p.Gly2842Ter) | |
8 | g.60865467del | CA2780535769 | CHD7 | n.1704del n.635del c.*1587del (n.*1587del) c.8528del (p.Gly2843GlufsTer?) c.2381del (p.Gly794GlufsTer?) c.8618del (p.Gly2873GlufsTer?) c.8615del (p.Gly2872GlufsTer?) c.8396del (p.Gly2799GlufsTer?) c.6605del (p.Gly2202GlufsTer?) c.6155del (p.Gly2052GlufsTer?) c.5363del (p.Gly1788GlufsTer?) c.8525del (p.Gly2842GlufsTer?) | |
8 | g.60865467G>A | CA371310222 | CHD7 | n.1704G>A n.635G>A c.*1587G>A (n.*1587G>A) c.8528G>A (p.Gly2843Glu) c.2381G>A (p.Gly794Glu) c.8618G>A (p.Gly2873Glu) c.8615G>A (p.Gly2872Glu) c.8396G>A (p.Gly2799Glu) c.6605G>A (p.Gly2202Glu) c.6155G>A (p.Gly2052Glu) c.5363G>A (p.Gly1788Glu) c.8525G>A (p.Gly2842Glu) | |
8 | g.60865467G>C | CA371310220 | CHD7 | n.1704G>C n.635G>C c.*1587G>C (n.*1587G>C) c.8528G>C (p.Gly2843Ala) c.2381G>C (p.Gly794Ala) c.8618G>C (p.Gly2873Ala) c.8615G>C (p.Gly2872Ala) c.8396G>C (p.Gly2799Ala) c.6605G>C (p.Gly2202Ala) c.6155G>C (p.Gly2052Ala) c.5363G>C (p.Gly1788Ala) c.8525G>C (p.Gly2842Ala) | |
8 | g.60865467G>T | CA371310215 | CHD7 | n.1704G>T n.635G>T c.*1587G>T (n.*1587G>T) c.8528G>T (p.Gly2843Val) c.2381G>T (p.Gly794Val) c.8618G>T (p.Gly2873Val) c.8615G>T (p.Gly2872Val) c.8396G>T (p.Gly2799Val) c.6605G>T (p.Gly2202Val) c.6155G>T (p.Gly2052Val) c.5363G>T (p.Gly1788Val) c.8525G>T (p.Gly2842Val) | |
8 | g.60865468A>C | CA461105988 | CHD7 | n.1705A>C n.636A>C c.*1588A>C (n.*1588A>C) c.8529A>C (p.Gly2843=) c.2382A>C (p.Gly794=) c.8619A>C (p.Gly2873=) c.8616A>C (p.Gly2872=) c.8397A>C (p.Gly2799=) c.6606A>C (p.Gly2202=) c.6156A>C (p.Gly2052=) c.5364A>C (p.Gly1788=) c.8526A>C (p.Gly2842=) | |
8 | g.60865468A>G | CA461105989 | CHD7 | n.1705A>G n.636A>G c.*1588A>G (n.*1588A>G) c.8529A>G (p.Gly2843=) c.2382A>G (p.Gly794=) c.8619A>G (p.Gly2873=) c.8616A>G (p.Gly2872=) c.8397A>G (p.Gly2799=) c.6606A>G (p.Gly2202=) c.6156A>G (p.Gly2052=) c.5364A>G (p.Gly1788=) c.8526A>G (p.Gly2842=) | |
8 | g.60865468A>T | CA461105990 | CHD7 | n.1705A>T n.636A>T c.*1588A>T (n.*1588A>T) c.8529A>T (p.Gly2843=) c.2382A>T (p.Gly794=) c.8619A>T (p.Gly2873=) c.8616A>T (p.Gly2872=) c.8397A>T (p.Gly2799=) c.6606A>T (p.Gly2202=) c.6156A>T (p.Gly2052=) c.5364A>T (p.Gly1788=) c.8526A>T (p.Gly2842=) | |
8 | g.60865469G>A | CA371310227 | CHD7 | n.1706G>A n.637G>A c.*1589G>A (n.*1589G>A) c.8530G>A (p.Glu2844Lys) c.2383G>A (p.Glu795Lys) c.8620G>A (p.Glu2874Lys) c.8617G>A (p.Glu2873Lys) c.8398G>A (p.Glu2800Lys) c.6607G>A (p.Glu2203Lys) c.6157G>A (p.Glu2053Lys) c.5365G>A (p.Glu1789Lys) c.8527G>A (p.Glu2843Lys) | |
8 | g.60865469G>C | CA371310242 | CHD7 | n.1706G>C n.637G>C c.*1589G>C (n.*1589G>C) c.8530G>C (p.Glu2844Gln) c.2383G>C (p.Glu795Gln) c.8620G>C (p.Glu2874Gln) c.8617G>C (p.Glu2873Gln) c.8398G>C (p.Glu2800Gln) c.6607G>C (p.Glu2203Gln) c.6157G>C (p.Glu2053Gln) c.5365G>C (p.Glu1789Gln) c.8527G>C (p.Glu2843Gln) | |
8 | g.60865469G>T | CA371310234 | CHD7 | n.1706G>T n.637G>T c.*1589G>T (n.*1589G>T) c.8530G>T (p.Glu2844Ter) c.2383G>T (p.Glu795Ter) c.8620G>T (p.Glu2874Ter) c.8617G>T (p.Glu2873Ter) c.8398G>T (p.Glu2800Ter) c.6607G>T (p.Glu2203Ter) c.6157G>T (p.Glu2053Ter) c.5365G>T (p.Glu1789Ter) c.8527G>T (p.Glu2843Ter) |