Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.21393537_21393542del | CA7090812 | CHD8 | c.5425_5430del (p.Ser1809_Ser1810del) c.3962_3967del c.6262_6267del (p.Ser2088_Ser2089del) n.5418_5423del | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393535G>A | CA388879983 | CHD8 | c.5423C>T (p.Ser1808Phe) c.3960C>T c.6260C>T (p.Ser2087Phe) n.5416C>T | |
14 | g.21393535G>C | CA388879982 | CHD8 | c.5423C>G (p.Ser1808Cys) c.3960C>G c.6260C>G (p.Ser2087Cys) n.5416C>G | |
14 | g.21393535G>T | CA388879981 | CHD8 | c.5423C>A (p.Ser1808Tyr) c.3960C>A c.6260C>A (p.Ser2087Tyr) n.5416C>A | gnomAD v4 |
14 | g.21393536A>C | CA388879985 | CHD8 | c.5422T>G (p.Ser1808Ala) c.3959T>G c.6259T>G (p.Ser2087Ala) n.5415T>G | |
14 | g.21393536A>G | CA388879987 | CHD8 | c.5422T>C (p.Ser1808Pro) c.3959T>C c.6259T>C (p.Ser2087Pro) n.5415T>C | |
14 | g.21393536A>T | CA388879989 | CHD8 | c.5422T>A (p.Ser1808Thr) c.3959T>A c.6259T>A (p.Ser2087Thr) n.5415T>A | |
14 | g.21393537T>A | CA484994796 | CHD8 | c.5421A>T (p.Ser1807=) c.3958A>T c.6258A>T (p.Ser2086=) n.5414A>T | |
14 | g.21393537T>C | CA7090816 | CHD8 | c.5421A>G (p.Ser1807=) c.3958A>G c.6258A>G (p.Ser2086=) n.5414A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393537T>G | CA484994798 | CHD8 | c.5421A>C (p.Ser1807=) c.3958A>C c.6258A>C (p.Ser2086=) n.5414A>C | |
14 | g.21393537T= | CA2122506013 | CHD8 | c.5421A= (p.Ser1807=) c.3958A= c.6258A= (p.Ser2086=) n.5414A= | |
14 | g.21393538G>A | CA388879992 | CHD8 | c.5420C>T (p.Ser1807Leu) c.3957C>T c.6257C>T (p.Ser2086Leu) n.5413C>T | dbSNP |
14 | g.21393538G>C | CA388879994 | CHD8 | c.5420C>G (p.Ser1807Ter) c.3957C>G c.6257C>G (p.Ser2086Ter) n.5413C>G | |
14 | g.21393538G= | CA2122506015 | CHD8 | c.5420C= (p.Ser1807=) c.3957C= c.6257C= (p.Ser2086=) n.5413C= | |
14 | g.21393538G>T | CA388879995 | CHD8 | c.5420C>A (p.Ser1807Ter) c.3957C>A c.6257C>A (p.Ser2086Ter) n.5413C>A | |
14 | g.21393539A>C | CA388879996 | CHD8 | c.5419T>G (p.Ser1807Ala) c.3956T>G c.6256T>G (p.Ser2086Ala) n.5412T>G | |
14 | g.21393539A>G | CA388880000 | CHD8 | c.5419T>C (p.Ser1807Pro) c.3956T>C c.6256T>C (p.Ser2086Pro) n.5412T>C | |
14 | g.21393539A>T | CA388879998 | CHD8 | c.5419T>A (p.Ser1807Thr) c.3956T>A c.6256T>A (p.Ser2086Thr) n.5412T>A | |
14 | g.21393540G>A | CA484994806 | CHD8 | c.5418C>T (p.Ser1806=) c.3955C>T c.6255C>T (p.Ser2085=) n.5411C>T | gnomAD v4 |
14 | g.21393540G>C | CA484994804 | CHD8 | c.5418C>G (p.Ser1806=) c.3955C>G c.6255C>G (p.Ser2085=) n.5411C>G | gnomAD v4 |
14 | g.21393540G>T | CA484994805 | CHD8 | c.5418C>A (p.Ser1806=) c.3955C>A c.6255C>A (p.Ser2085=) n.5411C>A | |
14 | g.21393540_21393543delinsGGAA | CA2122506018 | CHD8 | c.5415_5418delinsTTCC (p.Ser1805=) c.3952_3955delinsTTCC c.6252_6255delinsTTCC (p.Ser2084=) n.5408_5411delinsTTCC | |
14 | g.21393541G>A | CA388880004 | CHD8 | c.5417C>T (p.Ser1806Phe) c.3954C>T c.6254C>T (p.Ser2085Phe) n.5410C>T | |
14 | g.21393541G>C | CA388880010 | CHD8 | c.5417C>G (p.Ser1806Cys) c.3954C>G c.6254C>G (p.Ser2085Cys) n.5410C>G | |
14 | g.21393541G>T | CA388880011 | CHD8 | c.5417C>A (p.Ser1806Tyr) c.3954C>A c.6254C>A (p.Ser2085Tyr) n.5410C>A | |
14 | g.21393552_21393554dup | CA2122506021 | CHD8 | c.5415_5417dup (p.Ser1806_Ser1807insSer) c.3952_3954dup c.6252_6254dup (p.Ser2085_Ser2086insSer) n.5408_5410dup | dbSNP gnomAD v4 |
14 | g.21393549_21393554dup | CA2575477092 | CHD8 | c.5412_5417dup (p.Ser1806_Ser1807insSerSer) c.3949_3954dup c.6249_6254dup (p.Ser2085_Ser2086insSerSer) n.5405_5410dup | gnomAD v4 |
14 | g.21393552_21393554del | CA7090817 | CHD8 | c.5415_5417del (p.Ser1806del) c.3952_3954del c.6252_6254del (p.Ser2085del) n.5408_5410del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393542A>C | CA388880020 | CHD8 | c.5416T>G (p.Ser1806Ala) c.3953T>G c.6253T>G (p.Ser2085Ala) n.5409T>G | |
14 | g.21393542A>G | CA388880016 | CHD8 | c.5416T>C (p.Ser1806Pro) c.3953T>C c.6253T>C (p.Ser2085Pro) n.5409T>C | |
14 | g.21393542A>T | CA388880018 | CHD8 | c.5416T>A (p.Ser1806Thr) c.3953T>A c.6253T>A (p.Ser2085Thr) n.5409T>A | |
14 | g.21393543A>C | CA484994808 | CHD8 | c.5415T>G (p.Ser1805=) c.3952T>G c.6252T>G (p.Ser2084=) n.5408T>G | |
14 | g.21393543A>G | CA484994810 | CHD8 | c.5415T>C (p.Ser1805=) c.3952T>C c.6252T>C (p.Ser2084=) n.5408T>C | |
14 | g.21393543A>T | CA484994811 | CHD8 | c.5415T>A (p.Ser1805=) c.3952T>A c.6252T>A (p.Ser2084=) n.5408T>A | |
14 | g.21393544G>A | CA388880022 | CHD8 | c.5414C>T (p.Ser1805Phe) c.3951C>T c.6251C>T (p.Ser2084Phe) n.5407C>T | dbSNP gnomAD v2 |
14 | g.21393544G>C | CA388880024 | CHD8 | c.5414C>G (p.Ser1805Cys) c.3951C>G c.6251C>G (p.Ser2084Cys) n.5407C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393544G= | CA2122506023 | CHD8 | c.5414C= (p.Ser1805=) c.3951C= c.6251C= (p.Ser2084=) n.5407C= | |
14 | g.21393544G>T | CA388880025 | CHD8 | c.5414C>A (p.Ser1805Tyr) c.3951C>A c.6251C>A (p.Ser2084Tyr) n.5407C>A | |
14 | g.21393545A>C | CA388880028 | CHD8 | c.5413T>G (p.Ser1805Ala) c.3950T>G c.6250T>G (p.Ser2084Ala) n.5406T>G | |
14 | g.21393545A>G | CA388880030 | CHD8 | c.5413T>C (p.Ser1805Pro) c.3950T>C c.6250T>C (p.Ser2084Pro) n.5406T>C | |
14 | g.21393545A>T | CA388880031 | CHD8 | c.5413T>A (p.Ser1805Thr) c.3950T>A c.6250T>A (p.Ser2084Thr) n.5406T>A | |
14 | g.21393546A>C | CA484994820 | CHD8 | c.5412T>G (p.Ser1804=) c.3949T>G c.6249T>G (p.Ser2083=) n.5405T>G | |
14 | g.21393546A>G | CA484994821 | CHD8 | c.5412T>C (p.Ser1804=) c.3949T>C c.6249T>C (p.Ser2083=) n.5405T>C | |
14 | g.21393546A>T | CA484994822 | CHD8 | c.5412T>A (p.Ser1804=) c.3949T>A c.6249T>A (p.Ser2083=) n.5405T>A | |
14 | g.21393547G>A | CA7090818 | CHD8 | c.5411C>T (p.Ser1804Phe) c.3948C>T c.6248C>T (p.Ser2083Phe) n.5404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.21393547G>C | CA388880034 | CHD8 | c.5411C>G (p.Ser1804Cys) c.3948C>G c.6248C>G (p.Ser2083Cys) n.5404C>G | |
14 | g.21393547G= | CA2122506027 | CHD8 | c.5411C= (p.Ser1804=) c.3948C= c.6248C= (p.Ser2083=) n.5404C= | |
14 | g.21393547G>T | CA388880036 | CHD8 | c.5411C>A (p.Ser1804Tyr) c.3948C>A c.6248C>A (p.Ser2083Tyr) n.5404C>A | |
14 | g.21393548A= | CA2122506030 | CHD8 | c.5410T= (p.Ser1804=) c.3947T= c.6247T= (p.Ser2083=) n.5403T= | |
14 | g.21393548A>C | CA388880039 | CHD8 | c.5410T>G (p.Ser1804Ala) c.3947T>G c.6247T>G (p.Ser2083Ala) n.5403T>G | |
14 | g.21393548A>G | CA257592937 | CHD8 | c.5410T>C (p.Ser1804Pro) c.3947T>C c.6247T>C (p.Ser2083Pro) n.5403T>C | dbSNP gnomAD v4 |
14 | g.21393548A>T | CA388880043 | CHD8 | c.5410T>A (p.Ser1804Thr) c.3947T>A c.6247T>A (p.Ser2083Thr) n.5403T>A | |
14 | g.21393549A>C | CA484994833 | CHD8 | c.5409T>G (p.Ser1803=) c.3946T>G c.6246T>G (p.Ser2082=) n.5402T>G | |
14 | g.21393549A>G | CA484994831 | CHD8 | c.5409T>C (p.Ser1803=) c.3946T>C c.6246T>C (p.Ser2082=) n.5402T>C | |
14 | g.21393549A>T | CA484994832 | CHD8 | c.5409T>A (p.Ser1803=) c.3946T>A c.6246T>A (p.Ser2082=) n.5402T>A | |
14 | g.21393550G>A | CA388880045 | CHD8 | c.5408C>T (p.Ser1803Phe) c.3945C>T c.6245C>T (p.Ser2082Phe) n.5401C>T | |
14 | g.21393550G>C | CA388880049 | CHD8 | c.5408C>G (p.Ser1803Cys) c.3945C>G c.6245C>G (p.Ser2082Cys) n.5401C>G | |
14 | g.21393550G= | CA2122506033 | CHD8 | c.5408C= (p.Ser1803=) c.3945C= c.6245C= (p.Ser2082=) n.5401C= | |
14 | g.21393550G>T | CA257592950 | CHD8 | c.5408C>A (p.Ser1803Tyr) c.3945C>A c.6245C>A (p.Ser2082Tyr) n.5401C>A | dbSNP |
14 | g.21393551A>C | CA388880056 | CHD8 | c.5407T>G (p.Ser1803Ala) c.3944T>G c.6244T>G (p.Ser2082Ala) n.5400T>G | |
14 | g.21393551A>G | CA388880058 | CHD8 | c.5407T>C (p.Ser1803Pro) c.3944T>C c.6244T>C (p.Ser2082Pro) n.5400T>C | gnomAD v4 |
14 | g.21393551A>T | CA388880061 | CHD8 | c.5407T>A (p.Ser1803Thr) c.3944T>A c.6244T>A (p.Ser2082Thr) n.5400T>A | |
14 | g.21393552A= | CA2122506036 | CHD8 | c.5406T= (p.Ser1802=) c.3943T= c.6243T= (p.Ser2081=) n.5399T= | |
14 | g.21393552A>C | CA484994836 | CHD8 | c.5406T>G (p.Ser1802=) c.3943T>G c.6243T>G (p.Ser2081=) n.5399T>G | |
14 | g.21393552A>G | CA484994838 | CHD8 | c.5406T>C (p.Ser1802=) c.3943T>C c.6243T>C (p.Ser2081=) n.5399T>C | |
14 | g.21393552A>T | CA7090819 | CHD8 | c.5406T>A (p.Ser1802=) c.3943T>A c.6243T>A (p.Ser2081=) n.5399T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393553G>A | CA388880064 | CHD8 | c.5405C>T (p.Ser1802Phe) c.3942C>T c.6242C>T (p.Ser2081Phe) n.5398C>T | |
14 | g.21393553G>C | CA388880066 | CHD8 | c.5405C>G (p.Ser1802Cys) c.3942C>G c.6242C>G (p.Ser2081Cys) n.5398C>G | |
14 | g.21393553G>T | CA388880067 | CHD8 | c.5405C>A (p.Ser1802Tyr) c.3942C>A c.6242C>A (p.Ser2081Tyr) n.5398C>A | |
14 | g.21393554A>C | CA388880068 | CHD8 | c.5404T>G (p.Ser1802Ala) c.3941T>G c.6241T>G (p.Ser2081Ala) n.5397T>G | |
14 | g.21393554A>G | CA388880069 | CHD8 | c.5404T>C (p.Ser1802Pro) c.3941T>C c.6241T>C (p.Ser2081Pro) n.5397T>C | |
14 | g.21393554A>T | CA388880071 | CHD8 | c.5404T>A (p.Ser1802Thr) c.3941T>A c.6241T>A (p.Ser2081Thr) n.5397T>A | |
14 | g.21393555T>A | CA484994841 | CHD8 | c.5403A>T (p.Pro1801=) c.3940A>T c.6240A>T (p.Pro2080=) n.5396A>T | |
14 | g.21393555T>C | CA484994843 | CHD8 | c.5403A>G (p.Pro1801=) c.3940A>G c.6240A>G (p.Pro2080=) n.5396A>G | ClinVar gnomAD v4 |
14 | g.21393555T>G | CA484994845 | CHD8 | c.5403A>C (p.Pro1801=) c.3940A>C c.6240A>C (p.Pro2080=) n.5396A>C | |
14 | g.21393556G>A | CA388880074 | CHD8 | c.5402C>T (p.Pro1801Leu) c.3939C>T c.6239C>T (p.Pro2080Leu) n.5395C>T | |
14 | g.21393556G>C | CA388880075 | CHD8 | c.5402C>G (p.Pro1801Arg) c.3939C>G c.6239C>G (p.Pro2080Arg) n.5395C>G | |
14 | g.21393556G>T | CA388880078 | CHD8 | c.5402C>A (p.Pro1801Gln) c.3939C>A c.6239C>A (p.Pro2080Gln) n.5395C>A | |
14 | g.21393557G>A | CA388880086 | CHD8 | c.5401C>T (p.Pro1801Ser) c.3938C>T c.6238C>T (p.Pro2080Ser) n.5394C>T | |
14 | g.21393557G>C | CA388880081 | CHD8 | c.5401C>G (p.Pro1801Ala) c.3938C>G c.6238C>G (p.Pro2080Ala) n.5394C>G | |
14 | g.21393557G>T | CA388880083 | CHD8 | c.5401C>A (p.Pro1801Thr) c.3938C>A c.6238C>A (p.Pro2080Thr) n.5394C>A | |
14 | g.21393558T>A | CA484994851 | CHD8 | c.5400A>T (p.Ser1800=) c.3937A>T c.6237A>T (p.Ser2079=) n.5393A>T | |
14 | g.21393558T>C | CA484994853 | CHD8 | c.5400A>G (p.Ser1800=) c.3937A>G c.6237A>G (p.Ser2079=) n.5393A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393558T>G | CA484994852 | CHD8 | c.5400A>C (p.Ser1800=) c.3937A>C c.6237A>C (p.Ser2079=) n.5393A>C | |
14 | g.21393558T= | CA2122506039 | CHD8 | c.5400A= (p.Ser1800=) c.3937A= c.6237A= (p.Ser2079=) n.5393A= | |
14 | g.21393559G>A | CA388880088 | CHD8 | c.5399C>T (p.Ser1800Leu) c.3936C>T c.6236C>T (p.Ser2079Leu) n.5392C>T | |
14 | g.21393559G>C | CA388880090 | CHD8 | c.5399C>G (p.Ser1800Ter) c.3936C>G c.6236C>G (p.Ser2079Ter) n.5392C>G | COSMIC COSMIC |
14 | g.21393559G>T | CA388880092 | CHD8 | c.5399C>A (p.Ser1800Ter) c.3936C>A c.6236C>A (p.Ser2079Ter) n.5392C>A | |
14 | g.21393560A>C | CA388880094 | CHD8 | c.5398T>G (p.Ser1800Ala) c.3935T>G c.6235T>G (p.Ser2079Ala) n.5391T>G | |
14 | g.21393560A>G | CA388880097 | CHD8 | c.5398T>C (p.Ser1800Pro) c.3935T>C c.6235T>C (p.Ser2079Pro) n.5391T>C | |
14 | g.21393560A>T | CA388880099 | CHD8 | c.5398T>A (p.Ser1800Thr) c.3935T>A c.6235T>A (p.Ser2079Thr) n.5391T>A | |
14 | g.21393561C>A | CA484994860 | CHD8 | c.5397G>T (p.Leu1799=) c.3934G>T c.6234G>T (p.Leu2078=) n.5390G>T | |
14 | g.21393561C>G | CA484994858 | CHD8 | c.5397G>C (p.Leu1799=) c.3934G>C c.6234G>C (p.Leu2078=) n.5390G>C | |
14 | g.21393561C>T | CA484994859 | CHD8 | c.5397G>A (p.Leu1799=) c.3934G>A c.6234G>A (p.Leu2078=) n.5390G>A | |
14 | g.21393562A>C | CA388880100 | CHD8 | c.5396T>G (p.Leu1799Arg) c.3933T>G c.6233T>G (p.Leu2078Arg) n.5389T>G | |
14 | g.21393562A>G | CA388880101 | CHD8 | c.5396T>C (p.Leu1799Pro) c.3933T>C c.6233T>C (p.Leu2078Pro) n.5389T>C | |
14 | g.21393562A>T | CA388880103 | CHD8 | c.5396T>A (p.Leu1799Gln) c.3933T>A c.6233T>A (p.Leu2078Gln) n.5389T>A | |
14 | g.21393563G>A | CA202499 | CHD8 | c.5395C>T (p.Leu1799=) c.3932C>T c.6232C>T (p.Leu2078=) n.5388C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393563G>C | CA388880106 | CHD8 | c.5395C>G (p.Leu1799Val) c.3932C>G c.6232C>G (p.Leu2078Val) n.5388C>G | |
14 | g.21393563G= | CA2122506042 | CHD8 | c.5395C= (p.Leu1799=) c.3932C= c.6232C= (p.Leu2078=) n.5388C= | |
14 | g.21393563G>T | CA388880109 | CHD8 | c.5395C>A (p.Leu1799Met) c.3932C>A c.6232C>A (p.Leu2078Met) n.5388C>A | |
14 | g.21393564C>A | CA388880111 | CHD8 | c.5394G>T (p.Lys1798Asn) c.3931G>T c.6231G>T (p.Lys2077Asn) n.5387G>T | |
14 | g.21393564C= | CA2122506046 | CHD8 | c.5394G= (p.Lys1798=) c.3931G= c.6231G= (p.Lys2077=) n.5387G= | |
14 | g.21393564C>G | CA388880113 | CHD8 | c.5394G>C (p.Lys1798Asn) c.3931G>C c.6231G>C (p.Lys2077Asn) n.5387G>C | |
14 | g.21393564C>T | CA7090820 | CHD8 | c.5394G>A (p.Lys1798=) c.3931G>A c.6231G>A (p.Lys2077=) n.5387G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393565T>A | CA388880117 | CHD8 | c.5393A>T (p.Lys1798Met) c.3930A>T c.6230A>T (p.Lys2077Met) n.5386A>T | |
14 | g.21393565T>C | CA388880120 | CHD8 | c.5393A>G (p.Lys1798Arg) c.3930A>G c.6230A>G (p.Lys2077Arg) n.5386A>G | dbSNP |
14 | g.21393565T>G | CA388880119 | CHD8 | c.5393A>C (p.Lys1798Thr) c.3930A>C c.6230A>C (p.Lys2077Thr) n.5386A>C | |
14 | g.21393566T>A | CA388880123 | CHD8 | c.5392A>T (p.Lys1798Ter) c.3929A>T c.6229A>T (p.Lys2077Ter) n.5385A>T | dbSNP |
14 | g.21393566T>C | CA388880126 | CHD8 | c.5392A>G (p.Lys1798Glu) c.3929A>G c.6229A>G (p.Lys2077Glu) n.5385A>G | |
14 | g.21393566T>G | CA388880124 | CHD8 | c.5392A>C (p.Lys1798Gln) c.3929A>C c.6229A>C (p.Lys2077Gln) n.5385A>C | |
14 | g.21393566T= | CA2122506049 | CHD8 | c.5392A= (p.Lys1798=) c.3929A= c.6229A= (p.Lys2077=) n.5385A= | |
14 | g.21393567del | CA645571677 | CHD8 | c.5391del (p.Ser1797ArgfsTer?) c.3928del c.6228del (p.Ser2076ArgfsTer?) n.5384del | COSMIC COSMIC |
14 | g.21393567G>A | CA484994985 | CHD8 | c.5391C>T (p.Ser1797=) c.3928C>T c.6228C>T (p.Ser2076=) n.5384C>T | |
14 | g.21393567G>C | CA388880128 | CHD8 | c.5391C>G (p.Ser1797Arg) c.3928C>G c.6228C>G (p.Ser2076Arg) n.5384C>G | |
14 | g.21393567G>T | CA388880130 | CHD8 | c.5391C>A (p.Ser1797Arg) c.3928C>A c.6228C>A (p.Ser2076Arg) n.5384C>A | gnomAD v4 |
14 | g.21393568C>A | CA388880133 | CHD8 | c.5390G>T (p.Ser1797Ile) c.3927G>T c.6227G>T (p.Ser2076Ile) n.5383G>T | |
14 | g.21393568C>G | CA388880134 | CHD8 | c.5390G>C (p.Ser1797Thr) c.3927G>C c.6227G>C (p.Ser2076Thr) n.5383G>C | |
14 | g.21393568C>T | CA388880136 | CHD8 | c.5390G>A (p.Ser1797Asn) c.3927G>A c.6227G>A (p.Ser2076Asn) n.5383G>A | |
14 | g.21393569T>A | CA388880139 | CHD8 | c.5389A>T (p.Ser1797Cys) c.3926A>T c.6226A>T (p.Ser2076Cys) n.5382A>T | |
14 | g.21393569T>C | CA388880141 | CHD8 | c.5389A>G (p.Ser1797Gly) c.3926A>G c.6226A>G (p.Ser2076Gly) n.5382A>G | |
14 | g.21393569T>G | CA388880143 | CHD8 | c.5389A>C (p.Ser1797Arg) c.3926A>C c.6226A>C (p.Ser2076Arg) n.5382A>C | |
14 | g.21393570C>A | CA388880146 | CHD8 | c.5388G>T (p.Leu1796Phe) c.3925G>T c.6225G>T (p.Leu2075Phe) n.5381G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393570C= | CA2122506052 | CHD8 | c.5388G= (p.Leu1796=) c.3925G= c.6225G= (p.Leu2075=) n.5381G= | |
14 | g.21393570C>G | CA388880149 | CHD8 | c.5388G>C (p.Leu1796Phe) c.3925G>C c.6225G>C (p.Leu2075Phe) n.5381G>C | COSMIC COSMIC |
14 | g.21393570C>T | CA484994990 | CHD8 | c.5388G>A (p.Leu1796=) c.3925G>A c.6225G>A (p.Leu2075=) n.5381G>A | |
14 | g.21393571A= | CA2122506054 | CHD8 | c.5387T= (p.Leu1796=) c.3924T= c.6224T= (p.Leu2075=) n.5380T= | |
14 | g.21393571A>C | CA388880150 | CHD8 | c.5387T>G (p.Leu1796Trp) c.3924T>G c.6224T>G (p.Leu2075Trp) n.5380T>G | |
14 | g.21393571A>G | CA388880151 | CHD8 | c.5387T>C (p.Leu1796Ser) c.3924T>C c.6224T>C (p.Leu2075Ser) n.5380T>C | gnomAD v4 |
14 | g.21393571A>T | CA388880152 | CHD8 | c.5387T>A (p.Leu1796Ter) c.3924T>A c.6224T>A (p.Leu2075Ter) n.5380T>A | dbSNP |
14 | g.21393572A>C | CA388880153 | CHD8 | c.5386T>G (p.Leu1796Val) c.3923T>G c.6223T>G (p.Leu2075Val) n.5379T>G | |
14 | g.21393572A>G | CA484994993 | CHD8 | c.5386T>C (p.Leu1796=) c.3923T>C c.6223T>C (p.Leu2075=) n.5379T>C | |
14 | g.21393572A>T | CA388880154 | CHD8 | c.5386T>A (p.Leu1796Met) c.3923T>A c.6223T>A (p.Leu2075Met) n.5379T>A | |
14 | g.21393573G>A | CA7090821 | CHD8 | c.5385C>T (p.Asp1795=) c.3922C>T c.6222C>T (p.Asp2074=) n.5378C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393573G>C | CA388880156 | CHD8 | c.5385C>G (p.Asp1795Glu) c.3922C>G c.6222C>G (p.Asp2074Glu) n.5378C>G | |
14 | g.21393573G= | CA2122506058 | CHD8 | c.5385C= (p.Asp1795=) c.3922C= c.6222C= (p.Asp2074=) n.5378C= | |
14 | g.21393573G>T | CA388880155 | CHD8 | c.5385C>A (p.Asp1795Glu) c.3922C>A c.6222C>A (p.Asp2074Glu) n.5378C>A | dbSNP gnomAD v2 |
14 | g.21393574T>A | CA388880157 | CHD8 | c.5384A>T (p.Asp1795Val) c.3921A>T c.6221A>T (p.Asp2074Val) n.5377A>T | |
14 | g.21393574T>C | CA388880158 | CHD8 | c.5384A>G (p.Asp1795Gly) c.3921A>G c.6221A>G (p.Asp2074Gly) n.5377A>G | |
14 | g.21393574T>G | CA388880159 | CHD8 | c.5384A>C (p.Asp1795Ala) c.3921A>C c.6221A>C (p.Asp2074Ala) n.5377A>C | |
14 | g.21393575C>A | CA388880160 | CHD8 | c.5383G>T (p.Asp1795Tyr) c.3920G>T c.6220G>T (p.Asp2074Tyr) n.5376G>T | |
14 | g.21393575C= | CA2122506061 | CHD8 | c.5383G= (p.Asp1795=) c.3920G= c.6220G= (p.Asp2074=) n.5376G= | |
14 | g.21393575C>G | CA388880161 | CHD8 | c.5383G>C (p.Asp1795His) c.3920G>C c.6220G>C (p.Asp2074His) n.5376G>C | |
14 | g.21393575C>T | CA257593021 | CHD8 | c.5383G>A (p.Asp1795Asn) c.3920G>A c.6220G>A (p.Asp2074Asn) n.5376G>A | ClinVar dbSNP |
14 | g.21393576C>A | CA484994997 | CHD8 | c.5382G>T (p.Leu1794=) c.3919G>T c.6219G>T (p.Leu2073=) n.5375G>T | |
14 | g.21393576C>G | CA484994998 | CHD8 | c.5382G>C (p.Leu1794=) c.3919G>C c.6219G>C (p.Leu2073=) n.5375G>C | |
14 | g.21393576C>T | CA484994999 | CHD8 | c.5382G>A (p.Leu1794=) c.3919G>A c.6219G>A (p.Leu2073=) n.5375G>A | |
14 | g.21393577A>C | CA388880162 | CHD8 | c.5381T>G (p.Leu1794Arg) c.3918T>G c.6218T>G (p.Leu2073Arg) n.5374T>G | |
14 | g.21393577A>G | CA388880163 | CHD8 | c.5381T>C (p.Leu1794Pro) c.3918T>C c.6218T>C (p.Leu2073Pro) n.5374T>C | gnomAD v4 |
14 | g.21393577A>T | CA388880164 | CHD8 | c.5381T>A (p.Leu1794Gln) c.3918T>A c.6218T>A (p.Leu2073Gln) n.5374T>A | |
14 | g.21393578G>A | CA484995004 | CHD8 | c.5380C>T (p.Leu1794=) c.3917C>T c.6217C>T (p.Leu2073=) n.5373C>T | dbSNP gnomAD v4 |
14 | g.21393578G>C | CA388880165 | CHD8 | c.5380C>G (p.Leu1794Val) c.3917C>G c.6217C>G (p.Leu2073Val) n.5373C>G | |
14 | g.21393578G= | CA2122506063 | CHD8 | c.5380C= (p.Leu1794=) c.3917C= c.6217C= (p.Leu2073=) n.5373C= | |
14 | g.21393578G>T | CA388880166 | CHD8 | c.5380C>A (p.Leu1794Met) c.3917C>A c.6217C>A (p.Leu2073Met) n.5373C>A | |
14 | g.21393579C>A | CA388880167 | CHD8 | c.5379G>T (p.Glu1793Asp) c.3916G>T c.6216G>T (p.Glu2072Asp) n.5372G>T | |
14 | g.21393579C>G | CA388880168 | CHD8 | c.5379G>C (p.Glu1793Asp) c.3916G>C c.6216G>C (p.Glu2072Asp) n.5372G>C | |
14 | g.21393579C>T | CA484995005 | CHD8 | c.5379G>A (p.Glu1793=) c.3916G>A c.6216G>A (p.Glu2072=) n.5372G>A | gnomAD v4 |
14 | g.21393580T>A | CA388880169 | CHD8 | c.5378A>T (p.Glu1793Val) c.3915A>T c.6215A>T (p.Glu2072Val) n.5371A>T | |
14 | g.21393580T>C | CA388880170 | CHD8 | c.5378A>G (p.Glu1793Gly) c.3915A>G c.6215A>G (p.Glu2072Gly) n.5371A>G | |
14 | g.21393580T>G | CA388880171 | CHD8 | c.5378A>C (p.Glu1793Ala) c.3915A>C c.6215A>C (p.Glu2072Ala) n.5371A>C | |
14 | g.21393581C>A | CA388880172 | CHD8 | c.5377G>T (p.Glu1793Ter) c.3914G>T c.6214G>T (p.Glu2072Ter) n.5370G>T | dbSNP |
14 | g.21393581C= | CA2122506065 | CHD8 | c.5377G= (p.Glu1793=) c.3914G= c.6214G= (p.Glu2072=) n.5370G= | |
14 | g.21393581C>G | CA388880173 | CHD8 | c.5377G>C (p.Glu1793Gln) c.3914G>C c.6214G>C (p.Glu2072Gln) n.5370G>C | |
14 | g.21393581C>T | CA388880174 | CHD8 | c.5377G>A (p.Glu1793Lys) c.3914G>A c.6214G>A (p.Glu2072Lys) n.5370G>A | |
14 | g.21393582A= | CA2122506067 | CHD8 | c.5376T= (p.Ser1792=) c.3913T= c.6213T= (p.Ser2071=) n.5369T= | |
14 | g.21393582A>C | CA484995008 | CHD8 | c.5376T>G (p.Ser1792=) c.3913T>G c.6213T>G (p.Ser2071=) n.5369T>G | |
14 | g.21393582A>G | CA484995010 | CHD8 | c.5376T>C (p.Ser1792=) c.3913T>C c.6213T>C (p.Ser2071=) n.5369T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393582A>T | CA484995009 | CHD8 | c.5376T>A (p.Ser1792=) c.3913T>A c.6213T>A (p.Ser2071=) n.5369T>A | |
14 | g.21393583G>A | CA388880175 | CHD8 | c.5375C>T (p.Ser1792Phe) c.3912C>T c.6212C>T (p.Ser2071Phe) n.5368C>T | |
14 | g.21393583G>C | CA388880176 | CHD8 | c.5375C>G (p.Ser1792Cys) c.3912C>G c.6212C>G (p.Ser2071Cys) n.5368C>G | |
14 | g.21393583G>T | CA388880177 | CHD8 | c.5375C>A (p.Ser1792Tyr) c.3912C>A c.6212C>A (p.Ser2071Tyr) n.5368C>A | |
14 | g.21393584A= | CA2122506069 | CHD8 | c.5374T= (p.Ser1792=) c.3911T= c.6211T= (p.Ser2071=) n.5367T= | |
14 | g.21393584A>C | CA388880178 | CHD8 | c.5374T>G (p.Ser1792Ala) c.3911T>G c.6211T>G (p.Ser2071Ala) n.5367T>G | |
14 | g.21393584A>G | CA388880179 | CHD8 | c.5374T>C (p.Ser1792Pro) c.3911T>C c.6211T>C (p.Ser2071Pro) n.5367T>C | dbSNP gnomAD v2 |
14 | g.21393584A>T | CA388880180 | CHD8 | c.5374T>A (p.Ser1792Thr) c.3911T>A c.6211T>A (p.Ser2071Thr) n.5367T>A | |
14 | g.21393585G>A | CA484995014 | CHD8 | c.5373C>T (p.Asp1791=) c.3910C>T c.6210C>T (p.Asp2070=) n.5366C>T | gnomAD v4 |
14 | g.21393585G>C | CA388880182 | CHD8 | c.5373C>G (p.Asp1791Glu) c.3910C>G c.6210C>G (p.Asp2070Glu) n.5366C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.21393585G= | CA2122506071 | CHD8 | c.5373C= (p.Asp1791=) c.3910C= c.6210C= (p.Asp2070=) n.5366C= | |
14 | g.21393585G>T | CA388880181 | CHD8 | c.5373C>A (p.Asp1791Glu) c.3910C>A c.6210C>A (p.Asp2070Glu) n.5366C>A | |
14 | g.21393586T>A | CA388880183 | CHD8 | c.5372A>T (p.Asp1791Val) c.3909A>T c.6209A>T (p.Asp2070Val) n.5365A>T | |
14 | g.21393586T>C | CA388880184 | CHD8 | c.5372A>G (p.Asp1791Gly) c.3909A>G c.6209A>G (p.Asp2070Gly) n.5365A>G | |
14 | g.21393586T>G | CA388880185 | CHD8 | c.5372A>C (p.Asp1791Ala) c.3909A>C c.6209A>C (p.Asp2070Ala) n.5365A>C | |
14 | g.21393587C>A | CA388880186 | CHD8 | c.5371G>T (p.Asp1791Tyr) c.3908G>T c.6208G>T (p.Asp2070Tyr) n.5364G>T | |
14 | g.21393587C>G | CA388880187 | CHD8 | c.5371G>C (p.Asp1791His) c.3908G>C c.6208G>C (p.Asp2070His) n.5364G>C | |
14 | g.21393587C>T | CA388880188 | CHD8 | c.5371G>A (p.Asp1791Asn) c.3908G>A c.6208G>A (p.Asp2070Asn) n.5364G>A | gnomAD v4 |
14 | g.21393588C>A | CA484995018 | CHD8 | c.5370G>T (p.Ser1790=) c.3907G>T c.6207G>T (p.Ser2069=) n.5363G>T | |
14 | g.21393588C= | CA2122506073 | CHD8 | c.5370G= (p.Ser1790=) c.3907G= c.6207G= (p.Ser2069=) n.5363G= | |
14 | g.21393588C>G | CA484995019 | CHD8 | c.5370G>C (p.Ser1790=) c.3907G>C c.6207G>C (p.Ser2069=) n.5363G>C | |
14 | g.21393588C>T | CA7090822 | CHD8 | c.5370G>A (p.Ser1790=) c.3907G>A c.6207G>A (p.Ser2069=) n.5363G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393589G>A | CA7090823 | CHD8 | c.5369C>T (p.Ser1790Leu) c.3906C>T c.6206C>T (p.Ser2069Leu) n.5362C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393589G>C | CA388880189 | CHD8 | c.5369C>G (p.Ser1790Trp) c.3906C>G c.6206C>G (p.Ser2069Trp) n.5362C>G | |
14 | g.21393589G= | CA2122506076 | CHD8 | c.5369C= (p.Ser1790=) c.3906C= c.6206C= (p.Ser2069=) n.5362C= | |
14 | g.21393589G>T | CA388880190 | CHD8 | c.5369C>A (p.Ser1790Ter) c.3906C>A c.6206C>A (p.Ser2069Ter) n.5362C>A | dbSNP |
14 | g.21393590A>C | CA388880191 | CHD8 | c.5368T>G (p.Ser1790Ala) c.3905T>G c.6205T>G (p.Ser2069Ala) n.5361T>G | |
14 | g.21393590A>G | CA388880192 | CHD8 | c.5368T>C (p.Ser1790Pro) c.3905T>C c.6205T>C (p.Ser2069Pro) n.5361T>C | |
14 | g.21393590A>T | CA388880193 | CHD8 | c.5368T>A (p.Ser1790Thr) c.3905T>A c.6205T>A (p.Ser2069Thr) n.5361T>A | |
14 | g.21393591A= | CA2122506079 | CHD8 | c.5367T= (p.Asp1789=) c.3904T= c.6204T= (p.Asp2068=) n.5360T= | |
14 | g.21393591A>C | CA388880194 | CHD8 | c.5367T>G (p.Asp1789Glu) c.3904T>G c.6204T>G (p.Asp2068Glu) n.5360T>G | |
14 | g.21393591A>G | CA484995021 | CHD8 | c.5367T>C (p.Asp1789=) c.3904T>C c.6204T>C (p.Asp2068=) n.5360T>C | gnomAD v4 |
14 | g.21393591A>T | CA388880195 | CHD8 | c.5367T>A (p.Asp1789Glu) c.3904T>A c.6204T>A (p.Asp2068Glu) n.5360T>A | |
14 | g.21393592T>A | CA388880196 | CHD8 | c.5366A>T (p.Asp1789Val) c.3903A>T c.6203A>T (p.Asp2068Val) n.5359A>T | |
14 | g.21393592T>C | CA388880198 | CHD8 | c.5366A>G (p.Asp1789Gly) c.3903A>G c.6203A>G (p.Asp2068Gly) n.5359A>G | |
14 | g.21393592T>G | CA388880197 | CHD8 | c.5366A>C (p.Asp1789Ala) c.3903A>C c.6203A>C (p.Asp2068Ala) n.5359A>C | |
14 | g.21393600_21393605dup | CA612384297 | CHD8 | c.5361_5366dup (p.Asp1788_Asp1789insGluAsp) c.3898_3903dup c.6198_6203dup (p.Asp2067_Asp2068insGluAsp) n.5354_5359dup | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393593C>A | CA388880199 | CHD8 | c.5365G>T (p.Asp1789Tyr) c.3902G>T c.6202G>T (p.Asp2068Tyr) n.5358G>T | |
14 | g.21393593C>G | CA388880200 | CHD8 | c.5365G>C (p.Asp1789His) c.3902G>C c.6202G>C (p.Asp2068His) n.5358G>C | |
14 | g.21393593C>T | CA388880201 | CHD8 | c.5365G>A (p.Asp1789Asn) c.3902G>A c.6202G>A (p.Asp2068Asn) n.5358G>A | |
14 | g.21393594A>C | CA388880202 | CHD8 | c.5364T>G (p.Asp1788Glu) c.3901T>G c.6201T>G (p.Asp2067Glu) n.5357T>G | |
14 | g.21393594A>G | CA484995026 | CHD8 | c.5364T>C (p.Asp1788=) c.3901T>C c.6201T>C (p.Asp2067=) n.5357T>C | |
14 | g.21393594A>T | CA388880203 | CHD8 | c.5364T>A (p.Asp1788Glu) c.3901T>A c.6201T>A (p.Asp2067Glu) n.5357T>A | |
14 | g.21393595T>A | CA388880204 | CHD8 | c.5363A>T (p.Asp1788Val) c.3900A>T c.6200A>T (p.Asp2067Val) n.5356A>T | |
14 | g.21393595T>C | CA388880205 | CHD8 | c.5363A>G (p.Asp1788Gly) c.3900A>G c.6200A>G (p.Asp2067Gly) n.5356A>G | |
14 | g.21393595T>G | CA388880206 | CHD8 | c.5363A>C (p.Asp1788Ala) c.3900A>C c.6200A>C (p.Asp2067Ala) n.5356A>C | |
14 | g.21393596C>A | CA388880207 | CHD8 | c.5362G>T (p.Asp1788Tyr) c.3899G>T c.6199G>T (p.Asp2067Tyr) n.5355G>T | |
14 | g.21393596C>G | CA388880208 | CHD8 | c.5362G>C (p.Asp1788His) c.3899G>C c.6199G>C (p.Asp2067His) n.5355G>C | |
14 | g.21393596C>T | CA388880209 | CHD8 | c.5362G>A (p.Asp1788Asn) c.3899G>A c.6199G>A (p.Asp2067Asn) n.5355G>A | |
14 | g.21393597C>A | CA388880211 | CHD8 | c.5361G>T (p.Glu1787Asp) c.3898G>T c.6198G>T (p.Glu2066Asp) n.5354G>T | |
14 | g.21393597C>G | CA388880210 | CHD8 | c.5361G>C (p.Glu1787Asp) c.3898G>C c.6198G>C (p.Glu2066Asp) n.5354G>C | |
14 | g.21393597C>T | CA484995029 | CHD8 | c.5361G>A (p.Glu1787=) c.3898G>A c.6198G>A (p.Glu2066=) n.5354G>A | gnomAD v4 |
14 | g.21393598T>A | CA388880212 | CHD8 | c.5360A>T (p.Glu1787Val) c.3897A>T c.6197A>T (p.Glu2066Val) n.5353A>T | |
14 | g.21393598T>C | CA388880213 | CHD8 | c.5360A>G (p.Glu1787Gly) c.3897A>G c.6197A>G (p.Glu2066Gly) n.5353A>G | |
14 | g.21393598T>G | CA388880214 | CHD8 | c.5360A>C (p.Glu1787Ala) c.3897A>C c.6197A>C (p.Glu2066Ala) n.5353A>C | |
14 | g.21393599C>A | CA388880215 | CHD8 | c.5359G>T (p.Glu1787Ter) c.3896G>T c.6196G>T (p.Glu2066Ter) n.5352G>T | dbSNP |
14 | g.21393599C= | CA2122506082 | CHD8 | c.5359G= (p.Glu1787=) c.3896G= c.6196G= (p.Glu2066=) n.5352G= | |
14 | g.21393599C>G | CA388880216 | CHD8 | c.5359G>C (p.Glu1787Gln) c.3896G>C c.6196G>C (p.Glu2066Gln) n.5352G>C | |
14 | g.21393599C>T | CA388880217 | CHD8 | c.5359G>A (p.Glu1787Lys) c.3896G>A c.6196G>A (p.Glu2066Lys) n.5352G>A | dbSNP gnomAD v4 |
14 | g.21393600A>C | CA388880218 | CHD8 | c.5358T>G (p.Asp1786Glu) c.3895T>G c.6195T>G (p.Asp2065Glu) n.5351T>G | gnomAD v4 |
14 | g.21393600A>G | CA484995031 | CHD8 | c.5358T>C (p.Asp1786=) c.3895T>C c.6195T>C (p.Asp2065=) n.5351T>C | |
14 | g.21393600A>T | CA388880219 | CHD8 | c.5358T>A (p.Asp1786Glu) c.3895T>A c.6195T>A (p.Asp2065Glu) n.5351T>A | |
14 | g.21393601T>A | CA388880220 | CHD8 | c.5357A>T (p.Asp1786Val) c.3894A>T c.6194A>T (p.Asp2065Val) n.5350A>T | gnomAD v4 |
14 | g.21393601T>C | CA388880221 | CHD8 | c.5357A>G (p.Asp1786Gly) c.3894A>G c.6194A>G (p.Asp2065Gly) n.5350A>G | |
14 | g.21393601T>G | CA388880222 | CHD8 | c.5357A>C (p.Asp1786Ala) c.3894A>C c.6194A>C (p.Asp2065Ala) n.5350A>C | |
14 | g.21393602C>A | CA388880224 | CHD8 | c.5356G>T (p.Asp1786Tyr) c.3893G>T c.6193G>T (p.Asp2065Tyr) n.5349G>T | |
14 | g.21393602C= | CA2122506084 | CHD8 | c.5356G= (p.Asp1786=) c.3893G= c.6193G= (p.Asp2065=) n.5349G= | |
14 | g.21393602C>G | CA388880225 | CHD8 | c.5356G>C (p.Asp1786His) c.3893G>C c.6193G>C (p.Asp2065His) n.5349G>C | |
14 | g.21393602C>T | CA388880223 | CHD8 | c.5356G>A (p.Asp1786Asn) c.3893G>A c.6193G>A (p.Asp2065Asn) n.5349G>A | dbSNP gnomAD v4 |
14 | g.21393603C>A | CA388880226 | CHD8 | c.5355G>T (p.Glu1785Asp) c.3892G>T c.6192G>T (p.Glu2064Asp) n.5348G>T | |
14 | g.21393603C= | CA2122506086 | CHD8 | c.5355G= (p.Glu1785=) c.3892G= c.6192G= (p.Glu2064=) n.5348G= | |
14 | g.21393603C>G | CA388880227 | CHD8 | c.5355G>C (p.Glu1785Asp) c.3892G>C c.6192G>C (p.Glu2064Asp) n.5348G>C | |
14 | g.21393603C>T | CA7090824 | CHD8 | c.5355G>A (p.Glu1785=) c.3892G>A c.6192G>A (p.Glu2064=) n.5348G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393604T>A | CA388880228 | CHD8 | c.5354A>T (p.Glu1785Val) c.3891A>T c.6191A>T (p.Glu2064Val) n.5347A>T | |
14 | g.21393604T>C | CA388880229 | CHD8 | c.5354A>G (p.Glu1785Gly) c.3891A>G c.6191A>G (p.Glu2064Gly) n.5347A>G | |
14 | g.21393604T>G | CA388880230 | CHD8 | c.5354A>C (p.Glu1785Ala) c.3891A>C c.6191A>C (p.Glu2064Ala) n.5347A>C | |
14 | g.21393605C>A | CA388880231 | CHD8 | c.5353G>T (p.Glu1785Ter) c.3890G>T c.6190G>T (p.Glu2064Ter) n.5346G>T | dbSNP |
14 | g.21393605C= | CA2122506088 | CHD8 | c.5353G= (p.Glu1785=) c.3890G= c.6190G= (p.Glu2064=) n.5346G= | |
14 | g.21393605C>G | CA388880232 | CHD8 | c.5353G>C (p.Glu1785Gln) c.3890G>C c.6190G>C (p.Glu2064Gln) n.5346G>C | |
14 | g.21393605C>T | CA7090825 | CHD8 | c.5353G>A (p.Glu1785Lys) c.3890G>A c.6190G>A (p.Glu2064Lys) n.5346G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393606C>A | CA484995039 | CHD8 | c.5352G>T (p.Leu1784=) c.3889G>T c.6189G>T (p.Leu2063=) n.5345G>T | |
14 | g.21393606C>G | CA484995041 | CHD8 | c.5352G>C (p.Leu1784=) c.3889G>C c.6189G>C (p.Leu2063=) n.5345G>C | |
14 | g.21393606C>T | CA484995040 | CHD8 | c.5352G>A (p.Leu1784=) c.3889G>A c.6189G>A (p.Leu2063=) n.5345G>A | |
14 | g.21393607A>C | CA388880233 | CHD8 | c.5351T>G (p.Leu1784Arg) c.3888T>G c.6188T>G (p.Leu2063Arg) n.5344T>G | |
14 | g.21393607A>G | CA388880234 | CHD8 | c.5351T>C (p.Leu1784Pro) c.3888T>C c.6188T>C (p.Leu2063Pro) n.5344T>C | |
14 | g.21393607A>T | CA388880235 | CHD8 | c.5351T>A (p.Leu1784Gln) c.3888T>A c.6188T>A (p.Leu2063Gln) n.5344T>A | |
14 | g.21393608G>A | CA484995043 | CHD8 | c.5350C>T (p.Leu1784=) c.3887C>T c.6187C>T (p.Leu2063=) n.5343C>T | |
14 | g.21393608G>C | CA388880236 | CHD8 | c.5350C>G (p.Leu1784Val) c.3887C>G c.6187C>G (p.Leu2063Val) n.5343C>G | |
14 | g.21393608G>T | CA388880237 | CHD8 | c.5350C>A (p.Leu1784Met) c.3887C>A c.6187C>A (p.Leu2063Met) n.5343C>A | |
14 | g.21393609T>A | CA388880238 | CHD8 | c.5349A>T (p.Lys1783Asn) c.3886A>T c.6186A>T (p.Lys2062Asn) n.5342A>T | |
14 | g.21393609T>C | CA484995044 | CHD8 | c.5349A>G (p.Lys1783=) c.3886A>G c.6186A>G (p.Lys2062=) n.5342A>G | |
14 | g.21393609T>G | CA388880239 | CHD8 | c.5349A>C (p.Lys1783Asn) c.3886A>C c.6186A>C (p.Lys2062Asn) n.5342A>C | |
14 | g.21393610T>A | CA388880240 | CHD8 | c.5348A>T (p.Lys1783Ile) c.3885A>T c.6185A>T (p.Lys2062Ile) n.5341A>T | gnomAD v4 |
14 | g.21393610T>C | CA388880241 | CHD8 | c.5348A>G (p.Lys1783Arg) c.3885A>G c.6185A>G (p.Lys2062Arg) n.5341A>G | |
14 | g.21393610T>G | CA388880242 | CHD8 | c.5348A>C (p.Lys1783Thr) c.3885A>C c.6185A>C (p.Lys2062Thr) n.5341A>C | gnomAD v4 |
14 | g.21393611T>A | CA388880243 | CHD8 | c.5347A>T (p.Lys1783Ter) c.3884A>T c.6184A>T (p.Lys2062Ter) n.5340A>T | dbSNP |
14 | g.21393611T>C | CA388880244 | CHD8 | c.5347A>G (p.Lys1783Glu) c.3884A>G c.6184A>G (p.Lys2062Glu) n.5340A>G | |
14 | g.21393611T>G | CA388880245 | CHD8 | c.5347A>C (p.Lys1783Gln) c.3884A>C c.6184A>C (p.Lys2062Gln) n.5340A>C | |
14 | g.21393611T= | CA2122506089 | CHD8 | c.5347A= (p.Lys1783=) c.3884A= c.6184A= (p.Lys2062=) n.5340A= | |
14 | g.21393612G>A | CA484995046 | CHD8 | c.5346C>T (p.Val1782=) c.3883C>T c.6183C>T (p.Val2061=) n.5339C>T | |
14 | g.21393612G>C | CA484995047 | CHD8 | c.5346C>G (p.Val1782=) c.3883C>G c.6183C>G (p.Val2061=) n.5339C>G | |
14 | g.21393612G>T | CA484995048 | CHD8 | c.5346C>A (p.Val1782=) c.3883C>A c.6183C>A (p.Val2061=) n.5339C>A | |
14 | g.21393613A>C | CA388880246 | CHD8 | c.5345T>G (p.Val1782Gly) c.3882T>G c.6182T>G (p.Val2061Gly) n.5338T>G | |
14 | g.21393613A>G | CA388880247 | CHD8 | c.5345T>C (p.Val1782Ala) c.3882T>C c.6182T>C (p.Val2061Ala) n.5338T>C | |
14 | g.21393613A>T | CA388880248 | CHD8 | c.5345T>A (p.Val1782Asp) c.3882T>A c.6182T>A (p.Val2061Asp) n.5338T>A | |
14 | g.21393614C>A | CA388880249 | CHD8 | c.5344G>T (p.Val1782Phe) c.3881G>T c.6181G>T (p.Val2061Phe) n.5337G>T | |
14 | g.21393614C>G | CA388880250 | CHD8 | c.5344G>C (p.Val1782Leu) c.3881G>C c.6181G>C (p.Val2061Leu) n.5337G>C | |
14 | g.21393614C>T | CA388880251 | CHD8 | c.5344G>A (p.Val1782Ile) c.3881G>A c.6181G>A (p.Val2061Ile) n.5337G>A | |
14 | g.21393615T>A | CA484995050 | CHD8 | c.5343A>T (p.Pro1781=) c.3880A>T c.6180A>T (p.Pro2060=) n.5336A>T | |
14 | g.21393615T>C | CA484995051 | CHD8 | c.5343A>G (p.Pro1781=) c.3880A>G c.6180A>G (p.Pro2060=) n.5336A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.21393615T>G | CA484995052 | CHD8 | c.5343A>C (p.Pro1781=) c.3880A>C c.6180A>C (p.Pro2060=) n.5336A>C | |
14 | g.21393615T= | CA2122506091 | CHD8 | c.5343A= (p.Pro1781=) c.3880A= c.6180A= (p.Pro2060=) n.5336A= | |
14 | g.21393616G>A | CA388880253 | CHD8 | c.5342C>T (p.Pro1781Leu) c.3879C>T c.6179C>T (p.Pro2060Leu) n.5335C>T | |
14 | g.21393616G>C | CA7090826 | CHD8 | c.5342C>G (p.Pro1781Arg) c.3879C>G c.6179C>G (p.Pro2060Arg) n.5335C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393616G= | CA2122506092 | CHD8 | c.5342C= (p.Pro1781=) c.3879C= c.6179C= (p.Pro2060=) n.5335C= | |
14 | g.21393616G>T | CA388880252 | CHD8 | c.5342C>A (p.Pro1781Gln) c.3879C>A c.6179C>A (p.Pro2060Gln) n.5335C>A | |
14 | g.21393617G>A | CA7090827 | CHD8 | c.5341C>T (p.Pro1781Ser) c.3878C>T c.6178C>T (p.Pro2060Ser) n.5334C>T | dbSNP ExAC gnomAD v2 |
14 | g.21393617G>C | CA388880255 | CHD8 | c.5341C>G (p.Pro1781Ala) c.3878C>G c.6178C>G (p.Pro2060Ala) n.5334C>G | |
14 | g.21393617G= | CA2122506094 | CHD8 | c.5341C= (p.Pro1781=) c.3878C= c.6178C= (p.Pro2060=) n.5334C= | |
14 | g.21393617G>T | CA388880254 | CHD8 | c.5341C>A (p.Pro1781Thr) c.3878C>A c.6178C>A (p.Pro2060Thr) n.5334C>A | |
14 | g.21393618T>A | CA484995055 | CHD8 | c.5340A>T (p.Pro1780=) c.3877A>T c.6177A>T (p.Pro2059=) n.5333A>T | |
14 | g.21393618T>C | CA484995057 | CHD8 | c.5340A>G (p.Pro1780=) c.3877A>G c.6177A>G (p.Pro2059=) n.5333A>G | |
14 | g.21393618T>G | CA484995056 | CHD8 | c.5340A>C (p.Pro1780=) c.3877A>C c.6177A>C (p.Pro2059=) n.5333A>C | |
14 | g.21393619G>A | CA388880256 | CHD8 | c.5339C>T (p.Pro1780Leu) c.3876C>T c.6176C>T (p.Pro2059Leu) n.5332C>T | dbSNP gnomAD v4 |
14 | g.21393619G>C | CA388880257 | CHD8 | c.5339C>G (p.Pro1780Arg) c.3876C>G c.6176C>G (p.Pro2059Arg) n.5332C>G | |
14 | g.21393619G= | CA2122506096 | CHD8 | c.5339C= (p.Pro1780=) c.3876C= c.6176C= (p.Pro2059=) n.5332C= | |
14 | g.21393619G>T | CA388880258 | CHD8 | c.5339C>A (p.Pro1780Gln) c.3876C>A c.6176C>A (p.Pro2059Gln) n.5332C>A | |
14 | g.21393620G>A | CA388880259 | CHD8 | c.5338C>T (p.Pro1780Ser) c.3875C>T c.6175C>T (p.Pro2059Ser) n.5331C>T | |
14 | g.21393620G>C | CA388880260 | CHD8 | c.5338C>G (p.Pro1780Ala) c.3875C>G c.6175C>G (p.Pro2059Ala) n.5331C>G | |
14 | g.21393620G>T | CA388880261 | CHD8 | c.5338C>A (p.Pro1780Thr) c.3875C>A c.6175C>A (p.Pro2059Thr) n.5331C>A | |
14 | g.21393621A>C | CA484995058 | CHD8 | c.5337T>G (p.Val1779=) c.3874T>G c.6174T>G (p.Val2058=) n.5330T>G | |
14 | g.21393621A>G | CA484995059 | CHD8 | c.5337T>C (p.Val1779=) c.3874T>C c.6174T>C (p.Val2058=) n.5330T>C | gnomAD v4 |
14 | g.21393621A>T | CA484995060 | CHD8 | c.5337T>A (p.Val1779=) c.3874T>A c.6174T>A (p.Val2058=) n.5330T>A | |
14 | g.21393622A>C | CA388880264 | CHD8 | c.5336T>G (p.Val1779Gly) c.3873T>G c.6173T>G (p.Val2058Gly) n.5329T>G | |
14 | g.21393622A>G | CA388880262 | CHD8 | c.5336T>C (p.Val1779Ala) c.3873T>C c.6173T>C (p.Val2058Ala) n.5329T>C | |
14 | g.21393622A>T | CA388880263 | CHD8 | c.5336T>A (p.Val1779Asp) c.3873T>A c.6173T>A (p.Val2058Asp) n.5329T>A | |
14 | g.21393623C>A | CA388880265 | CHD8 | c.5335G>T (p.Val1779Phe) c.3872G>T c.6172G>T (p.Val2058Phe) n.5328G>T | |
14 | g.21393623C>G | CA388880266 | CHD8 | c.5335G>C (p.Val1779Leu) c.3872G>C c.6172G>C (p.Val2058Leu) n.5328G>C | |
14 | g.21393623C>T | CA388880267 | CHD8 | c.5335G>A (p.Val1779Ile) c.3872G>A c.6172G>A (p.Val2058Ile) n.5328G>A | |
14 | g.21393624A= | CA2122506098 | CHD8 | c.5334T= (p.Ser1778=) c.3871T= c.6171T= (p.Ser2057=) n.5327T= | |
14 | g.21393624A>C | CA388880268 | CHD8 | c.5334T>G (p.Ser1778Arg) c.3871T>G c.6171T>G (p.Ser2057Arg) n.5327T>G | |
14 | g.21393624A>G | CA484995063 | CHD8 | c.5334T>C (p.Ser1778=) c.3871T>C c.6171T>C (p.Ser2057=) n.5327T>C | dbSNP gnomAD v4 |
14 | g.21393624A>T | CA388880269 | CHD8 | c.5334T>A (p.Ser1778Arg) c.3871T>A c.6171T>A (p.Ser2057Arg) n.5327T>A | |
14 | g.21393625C>A | CA388880272 | CHD8 | c.5333G>T (p.Ser1778Ile) c.3870G>T c.6170G>T (p.Ser2057Ile) n.5326G>T | |
14 | g.21393625C= | CA2122506099 | CHD8 | c.5333G= (p.Ser1778=) c.3870G= c.6170G= (p.Ser2057=) n.5326G= | |
14 | g.21393625C>G | CA388880270 | CHD8 | c.5333G>C (p.Ser1778Thr) c.3870G>C c.6170G>C (p.Ser2057Thr) n.5326G>C | gnomAD v4 |
14 | g.21393625C>T | CA388880271 | CHD8 | c.5333G>A (p.Ser1778Asn) c.3870G>A c.6170G>A (p.Ser2057Asn) n.5326G>A | dbSNP |
14 | g.21393626T>A | CA388880273 | CHD8 | c.5332A>T (p.Ser1778Cys) c.3869A>T c.6169A>T (p.Ser2057Cys) n.5325A>T | |
14 | g.21393626T>C | CA388880274 | CHD8 | c.5332A>G (p.Ser1778Gly) c.3869A>G c.6169A>G (p.Ser2057Gly) n.5325A>G | |
14 | g.21393626T>G | CA388880275 | CHD8 | c.5332A>C (p.Ser1778Arg) c.3869A>C c.6169A>C (p.Ser2057Arg) n.5325A>C | ClinVar |
14 | g.21393627C>A | CA484995065 | CHD8 | c.5331G>T (p.Arg1777=) c.3868G>T c.6168G>T (p.Arg2056=) n.5324G>T | |
14 | g.21393627C= | CA2122506101 | CHD8 | c.5331G= (p.Arg1777=) c.3868G= c.6168G= (p.Arg2056=) n.5324G= | |
14 | g.21393627C>G | CA484995066 | CHD8 | c.5331G>C (p.Arg1777=) c.3868G>C c.6168G>C (p.Arg2056=) n.5324G>C | |
14 | g.21393627C>T | CA7090828 | CHD8 | c.5331G>A (p.Arg1777=) c.3868G>A c.6168G>A (p.Arg2056=) n.5324G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393628C>A | CA388880276 | CHD8 | c.5330G>T (p.Arg1777Leu) c.3867G>T c.6167G>T (p.Arg2056Leu) n.5323G>T | |
14 | g.21393628C= | CA2122506103 | CHD8 | c.5330G= (p.Arg1777=) c.3867G= c.6167G= (p.Arg2056=) n.5323G= | |
14 | g.21393628C>G | CA257593057 | CHD8 | c.5330G>C (p.Arg1777Pro) c.3867G>C c.6167G>C (p.Arg2056Pro) n.5323G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393628C>T | CA7090829 | CHD8 | c.5330G>A (p.Arg1777Gln) c.3867G>A c.6167G>A (p.Arg2056Gln) n.5323G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.21393629G>A | CA7090830 | CHD8 | c.5329C>T (p.Arg1777Trp) c.3866C>T c.6166C>T (p.Arg2056Trp) n.5322C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.21393629G>C | CA388880277 | CHD8 | c.5329C>G (p.Arg1777Gly) c.3866C>G c.6166C>G (p.Arg2056Gly) n.5322C>G | |
14 | g.21393629G= | CA2122506105 | CHD8 | c.5329C= (p.Arg1777=) c.3866C= c.6166C= (p.Arg2056=) n.5322C= | |
14 | g.21393629G>T | CA484995068 | CHD8 | c.5329C>A (p.Arg1777=) c.3866C>A c.6166C>A (p.Arg2056=) n.5322C>A | |
14 | g.21393630G>A | CA484995070 | CHD8 | c.5328C>T (p.Ser1776=) c.3865C>T c.6165C>T (p.Ser2055=) n.5321C>T | |
14 | g.21393630G>C | CA484995072 | CHD8 | c.5328C>G (p.Ser1776=) c.3865C>G c.6165C>G (p.Ser2055=) n.5321C>G | |
14 | g.21393630G>T | CA484995071 | CHD8 | c.5328C>A (p.Ser1776=) c.3865C>A c.6165C>A (p.Ser2055=) n.5321C>A | |
14 | g.21393631G>A | CA388880278 | CHD8 | c.5327C>T (p.Ser1776Phe) c.3864C>T c.6164C>T (p.Ser2055Phe) n.5320C>T | gnomAD v4 |
14 | g.21393631G>C | CA388880279 | CHD8 | c.5327C>G (p.Ser1776Cys) c.3864C>G c.6164C>G (p.Ser2055Cys) n.5320C>G | |
14 | g.21393631G>T | CA388880280 | CHD8 | c.5327C>A (p.Ser1776Tyr) c.3864C>A c.6164C>A (p.Ser2055Tyr) n.5320C>A | |
14 | g.21393632A>C | CA388880281 | CHD8 | c.5326T>G (p.Ser1776Ala) c.3863T>G c.6163T>G (p.Ser2055Ala) n.5319T>G | |
14 | g.21393632A>G | CA388880283 | CHD8 | c.5326T>C (p.Ser1776Pro) c.3863T>C c.6163T>C (p.Ser2055Pro) n.5319T>C | |
14 | g.21393632A>T | CA388880282 | CHD8 | c.5326T>A (p.Ser1776Thr) c.3863T>A c.6163T>A (p.Ser2055Thr) n.5319T>A | |
14 | g.21393633A>C | CA484995075 | CHD8 | c.5325T>G (p.Val1775=) c.3862T>G c.6162T>G (p.Val2054=) n.5318T>G | |
14 | g.21393633A>G | CA484995073 | CHD8 | c.5325T>C (p.Val1775=) c.3862T>C c.6162T>C (p.Val2054=) n.5318T>C | |
14 | g.21393633A>T | CA484995074 | CHD8 | c.5325T>A (p.Val1775=) c.3862T>A c.6162T>A (p.Val2054=) n.5318T>A | |
14 | g.21393634A>C | CA388880284 | CHD8 | c.5324T>G (p.Val1775Gly) c.3861T>G c.6161T>G (p.Val2054Gly) n.5317T>G | |
14 | g.21393634A>G | CA388880285 | CHD8 | c.5324T>C (p.Val1775Ala) c.3861T>C c.6161T>C (p.Val2054Ala) n.5317T>C | |
14 | g.21393634A>T | CA388880286 | CHD8 | c.5324T>A (p.Val1775Asp) c.3861T>A c.6161T>A (p.Val2054Asp) n.5317T>A | |
14 | g.21393635C>A | CA388880287 | CHD8 | c.5323G>T (p.Val1775Phe) c.3860G>T c.6160G>T (p.Val2054Phe) n.5316G>T | dbSNP |
14 | g.21393635C= | CA2122506107 | CHD8 | c.5323G= (p.Val1775=) c.3860G= c.6160G= (p.Val2054=) n.5316G= | |
14 | g.21393635C>G | CA388880288 | CHD8 | c.5323G>C (p.Val1775Leu) c.3860G>C c.6160G>C (p.Val2054Leu) n.5316G>C | |
14 | g.21393635C>T | CA388880289 | CHD8 | c.5323G>A (p.Val1775Ile) c.3860G>A c.6160G>A (p.Val2054Ile) n.5316G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |