Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393525_21393530dupCA7090811CHD8c.5440_5445dup (p.Ser1815_Thr1816insSerSer)
c.3977_3982dup
c.6277_6282dup (p.Ser2094_Thr2095insSerSer)
n.5433_5438dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393525_21393530delCA704113388CHD8c.5440_5445del (p.Ser1814_Ser1815del)
c.3977_3982del
c.6277_6282del (p.Ser2093_Ser2094del)
n.5433_5438del
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.21393527_21393533delinsTGGATGACA2122506004CHD8c.5425_5431delinsTCATCCA (p.Ser1809=)
c.3962_3968delinsTCATCCA
c.6262_6268delinsTCATCCA (p.Ser2088=)
n.5418_5424delinsTCATCCA
14g.21393528G>ACA7090813CHD8c.5430C>T (p.Ser1810=)
c.3967C>T
c.6267C>T (p.Ser2089=)
n.5423C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393528G>CCA484994780CHD8c.5430C>G (p.Ser1810=)
c.3967C>G
c.6267C>G (p.Ser2089=)
n.5423C>G
 gnomAD v4
14g.21393528G=CA2122506006CHD8c.5430C= (p.Ser1810=)
c.3967C=
c.6267C= (p.Ser2089=)
n.5423C=
14g.21393528G>TCA484994779CHD8c.5430C>A (p.Ser1810=)
c.3967C>A
c.6267C>A (p.Ser2089=)
n.5423C>A
 gnomAD v4
14g.21393528_21393529insAGCA2624078744CHD8c.5430_5431insTC (p.Ser1812AlafsTer17)
c.3967_3968insTC
c.6267_6268insTC (p.Ser2091AlafsTer17)
n.5423_5424insTC
 gnomAD v4
14g.21393537_21393542delCA7090812CHD8c.5425_5430del (p.Ser1809_Ser1810del)
c.3962_3967del
c.6262_6267del (p.Ser2088_Ser2089del)
n.5418_5423del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393529G>ACA388879959CHD8c.5429C>T (p.Ser1810Phe)
c.3966C>T
c.6266C>T (p.Ser2089Phe)
n.5422C>T
14g.21393529G>CCA388879957CHD8c.5429C>G (p.Ser1810Cys)
c.3966C>G
c.6266C>G (p.Ser2089Cys)
n.5422C>G
14g.21393529G>TCA388879958CHD8c.5429C>A (p.Ser1810Tyr)
c.3966C>A
c.6266C>A (p.Ser2089Tyr)
n.5422C>A
14g.21393530A>CCA388879960CHD8c.5428T>G (p.Ser1810Ala)
c.3965T>G
c.6265T>G (p.Ser2089Ala)
n.5421T>G
14g.21393530A>GCA388879961CHD8c.5428T>C (p.Ser1810Pro)
c.3965T>C
c.6265T>C (p.Ser2089Pro)
n.5421T>C
14g.21393530A>TCA388879962CHD8c.5428T>A (p.Ser1810Thr)
c.3965T>A
c.6265T>A (p.Ser2089Thr)
n.5421T>A
14g.21393531T>ACA484994782CHD8c.5427A>T (p.Ser1809=)
c.3964A>T
c.6264A>T (p.Ser2088=)
n.5420A>T
 gnomAD v4
14g.21393531T>CCA484994783CHD8c.5427A>G (p.Ser1809=)
c.3964A>G
c.6264A>G (p.Ser2088=)
n.5420A>G
14g.21393531T>GCA7090814CHD8c.5427A>C (p.Ser1809=)
c.3964A>C
c.6264A>C (p.Ser2088=)
n.5420A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393531T=CA2122506008CHD8c.5427A= (p.Ser1809=)
c.3964A=
c.6264A= (p.Ser2088=)
n.5420A=
14g.21393532G>ACA388879964CHD8c.5426C>T (p.Ser1809Leu)
c.3963C>T
c.6263C>T (p.Ser2088Leu)
n.5419C>T
14g.21393532G>CCA388879966CHD8c.5426C>G (p.Ser1809Ter)
c.3963C>G
c.6263C>G (p.Ser2088Ter)
n.5419C>G
14g.21393532G>TCA388879968CHD8c.5426C>A (p.Ser1809Ter)
c.3963C>A
c.6263C>A (p.Ser2088Ter)
n.5419C>A
 gnomAD v4
14g.21393533A>CCA388879971CHD8c.5425T>G (p.Ser1809Ala)
c.3962T>G
c.6262T>G (p.Ser2088Ala)
n.5418T>G
 COSMIC COSMIC
14g.21393533A>GCA388879973CHD8c.5425T>C (p.Ser1809Pro)
c.3962T>C
c.6262T>C (p.Ser2088Pro)
n.5418T>C
14g.21393533A>TCA388879974CHD8c.5425T>A (p.Ser1809Thr)
c.3962T>A
c.6262T>A (p.Ser2088Thr)
n.5418T>A
14g.21393534G>ACA7090815CHD8c.5424C>T (p.Ser1808=)
c.3961C>T
c.6261C>T (p.Ser2087=)
n.5417C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393534G>CCA484994789CHD8c.5424C>G (p.Ser1808=)
c.3961C>G
c.6261C>G (p.Ser2087=)
n.5417C>G
 gnomAD v4
14g.21393534G=CA2122506011CHD8c.5424C= (p.Ser1808=)
c.3961C=
c.6261C= (p.Ser2087=)
n.5417C=
14g.21393534G>TCA484994791CHD8c.5424C>A (p.Ser1808=)
c.3961C>A
c.6261C>A (p.Ser2087=)
n.5417C>A
 dbSNP gnomAD v4
14g.21393535G>ACA388879983CHD8c.5423C>T (p.Ser1808Phe)
c.3960C>T
c.6260C>T (p.Ser2087Phe)
n.5416C>T
14g.21393535G>CCA388879982CHD8c.5423C>G (p.Ser1808Cys)
c.3960C>G
c.6260C>G (p.Ser2087Cys)
n.5416C>G
14g.21393535G>TCA388879981CHD8c.5423C>A (p.Ser1808Tyr)
c.3960C>A
c.6260C>A (p.Ser2087Tyr)
n.5416C>A
 gnomAD v4
14g.21393536A>CCA388879985CHD8c.5422T>G (p.Ser1808Ala)
c.3959T>G
c.6259T>G (p.Ser2087Ala)
n.5415T>G
14g.21393536A>GCA388879987CHD8c.5422T>C (p.Ser1808Pro)
c.3959T>C
c.6259T>C (p.Ser2087Pro)
n.5415T>C
14g.21393536A>TCA388879989CHD8c.5422T>A (p.Ser1808Thr)
c.3959T>A
c.6259T>A (p.Ser2087Thr)
n.5415T>A
14g.21393537T>ACA484994796CHD8c.5421A>T (p.Ser1807=)
c.3958A>T
c.6258A>T (p.Ser2086=)
n.5414A>T
14g.21393537T>CCA7090816CHD8c.5421A>G (p.Ser1807=)
c.3958A>G
c.6258A>G (p.Ser2086=)
n.5414A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393537T>GCA484994798CHD8c.5421A>C (p.Ser1807=)
c.3958A>C
c.6258A>C (p.Ser2086=)
n.5414A>C
14g.21393537T=CA2122506013CHD8c.5421A= (p.Ser1807=)
c.3958A=
c.6258A= (p.Ser2086=)
n.5414A=
14g.21393538G>ACA388879992CHD8c.5420C>T (p.Ser1807Leu)
c.3957C>T
c.6257C>T (p.Ser2086Leu)
n.5413C>T
 dbSNP
14g.21393538G>CCA388879994CHD8c.5420C>G (p.Ser1807Ter)
c.3957C>G
c.6257C>G (p.Ser2086Ter)
n.5413C>G
14g.21393538G=CA2122506015CHD8c.5420C= (p.Ser1807=)
c.3957C=
c.6257C= (p.Ser2086=)
n.5413C=
14g.21393538G>TCA388879995CHD8c.5420C>A (p.Ser1807Ter)
c.3957C>A
c.6257C>A (p.Ser2086Ter)
n.5413C>A
14g.21393539A>CCA388879996CHD8c.5419T>G (p.Ser1807Ala)
c.3956T>G
c.6256T>G (p.Ser2086Ala)
n.5412T>G
14g.21393539A>GCA388880000CHD8c.5419T>C (p.Ser1807Pro)
c.3956T>C
c.6256T>C (p.Ser2086Pro)
n.5412T>C
14g.21393539A>TCA388879998CHD8c.5419T>A (p.Ser1807Thr)
c.3956T>A
c.6256T>A (p.Ser2086Thr)
n.5412T>A
14g.21393540G>ACA484994806CHD8c.5418C>T (p.Ser1806=)
c.3955C>T
c.6255C>T (p.Ser2085=)
n.5411C>T
 gnomAD v4
14g.21393540G>CCA484994804CHD8c.5418C>G (p.Ser1806=)
c.3955C>G
c.6255C>G (p.Ser2085=)
n.5411C>G
 gnomAD v4
14g.21393540G>TCA484994805CHD8c.5418C>A (p.Ser1806=)
c.3955C>A
c.6255C>A (p.Ser2085=)
n.5411C>A
14g.21393540_21393543delinsGGAACA2122506018CHD8c.5415_5418delinsTTCC (p.Ser1805=)
c.3952_3955delinsTTCC
c.6252_6255delinsTTCC (p.Ser2084=)
n.5408_5411delinsTTCC
14g.21393541G>ACA388880004CHD8c.5417C>T (p.Ser1806Phe)
c.3954C>T
c.6254C>T (p.Ser2085Phe)
n.5410C>T
14g.21393541G>CCA388880010CHD8c.5417C>G (p.Ser1806Cys)
c.3954C>G
c.6254C>G (p.Ser2085Cys)
n.5410C>G
14g.21393541G>TCA388880011CHD8c.5417C>A (p.Ser1806Tyr)
c.3954C>A
c.6254C>A (p.Ser2085Tyr)
n.5410C>A
14g.21393552_21393554dupCA2122506021CHD8c.5415_5417dup (p.Ser1806_Ser1807insSer)
c.3952_3954dup
c.6252_6254dup (p.Ser2085_Ser2086insSer)
n.5408_5410dup
 dbSNP gnomAD v4
14g.21393549_21393554dupCA2575477092CHD8c.5412_5417dup (p.Ser1806_Ser1807insSerSer)
c.3949_3954dup
c.6249_6254dup (p.Ser2085_Ser2086insSerSer)
n.5405_5410dup
 gnomAD v4
14g.21393552_21393554delCA7090817CHD8c.5415_5417del (p.Ser1806del)
c.3952_3954del
c.6252_6254del (p.Ser2085del)
n.5408_5410del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393542A>CCA388880020CHD8c.5416T>G (p.Ser1806Ala)
c.3953T>G
c.6253T>G (p.Ser2085Ala)
n.5409T>G
14g.21393542A>GCA388880016CHD8c.5416T>C (p.Ser1806Pro)
c.3953T>C
c.6253T>C (p.Ser2085Pro)
n.5409T>C
14g.21393542A>TCA388880018CHD8c.5416T>A (p.Ser1806Thr)
c.3953T>A
c.6253T>A (p.Ser2085Thr)
n.5409T>A
14g.21393543A>CCA484994808CHD8c.5415T>G (p.Ser1805=)
c.3952T>G
c.6252T>G (p.Ser2084=)
n.5408T>G
14g.21393543A>GCA484994810CHD8c.5415T>C (p.Ser1805=)
c.3952T>C
c.6252T>C (p.Ser2084=)
n.5408T>C
14g.21393543A>TCA484994811CHD8c.5415T>A (p.Ser1805=)
c.3952T>A
c.6252T>A (p.Ser2084=)
n.5408T>A
14g.21393544G>ACA388880022CHD8c.5414C>T (p.Ser1805Phe)
c.3951C>T
c.6251C>T (p.Ser2084Phe)
n.5407C>T
 dbSNP gnomAD v2
14g.21393544G>CCA388880024CHD8c.5414C>G (p.Ser1805Cys)
c.3951C>G
c.6251C>G (p.Ser2084Cys)
n.5407C>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393544G=CA2122506023CHD8c.5414C= (p.Ser1805=)
c.3951C=
c.6251C= (p.Ser2084=)
n.5407C=
14g.21393544G>TCA388880025CHD8c.5414C>A (p.Ser1805Tyr)
c.3951C>A
c.6251C>A (p.Ser2084Tyr)
n.5407C>A
14g.21393545A>CCA388880028CHD8c.5413T>G (p.Ser1805Ala)
c.3950T>G
c.6250T>G (p.Ser2084Ala)
n.5406T>G
14g.21393545A>GCA388880030CHD8c.5413T>C (p.Ser1805Pro)
c.3950T>C
c.6250T>C (p.Ser2084Pro)
n.5406T>C
14g.21393545A>TCA388880031CHD8c.5413T>A (p.Ser1805Thr)
c.3950T>A
c.6250T>A (p.Ser2084Thr)
n.5406T>A
14g.21393546A>CCA484994820CHD8c.5412T>G (p.Ser1804=)
c.3949T>G
c.6249T>G (p.Ser2083=)
n.5405T>G
14g.21393546A>GCA484994821CHD8c.5412T>C (p.Ser1804=)
c.3949T>C
c.6249T>C (p.Ser2083=)
n.5405T>C
14g.21393546A>TCA484994822CHD8c.5412T>A (p.Ser1804=)
c.3949T>A
c.6249T>A (p.Ser2083=)
n.5405T>A
14g.21393547G>ACA7090818CHD8c.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
14g.21393547G>CCA388880034CHD8c.5411C>G (p.Ser1804Cys)
c.3948C>G
c.6248C>G (p.Ser2083Cys)
n.5404C>G
14g.21393547G=CA2122506027CHD8c.5411C= (p.Ser1804=)
c.3948C=
c.6248C= (p.Ser2083=)
n.5404C=
14g.21393547G>TCA388880036CHD8c.5411C>A (p.Ser1804Tyr)
c.3948C>A
c.6248C>A (p.Ser2083Tyr)
n.5404C>A
14g.21393548A=CA2122506030CHD8c.5410T= (p.Ser1804=)
c.3947T=
c.6247T= (p.Ser2083=)
n.5403T=
14g.21393548A>CCA388880039CHD8c.5410T>G (p.Ser1804Ala)
c.3947T>G
c.6247T>G (p.Ser2083Ala)
n.5403T>G
14g.21393548A>GCA257592937CHD8c.5410T>C (p.Ser1804Pro)
c.3947T>C
c.6247T>C (p.Ser2083Pro)
n.5403T>C
 dbSNP gnomAD v4
14g.21393548A>TCA388880043CHD8c.5410T>A (p.Ser1804Thr)
c.3947T>A
c.6247T>A (p.Ser2083Thr)
n.5403T>A
14g.21393549A>CCA484994833CHD8c.5409T>G (p.Ser1803=)
c.3946T>G
c.6246T>G (p.Ser2082=)
n.5402T>G
14g.21393549A>GCA484994831CHD8c.5409T>C (p.Ser1803=)
c.3946T>C
c.6246T>C (p.Ser2082=)
n.5402T>C
14g.21393549A>TCA484994832CHD8c.5409T>A (p.Ser1803=)
c.3946T>A
c.6246T>A (p.Ser2082=)
n.5402T>A
14g.21393550G>ACA388880045CHD8c.5408C>T (p.Ser1803Phe)
c.3945C>T
c.6245C>T (p.Ser2082Phe)
n.5401C>T
14g.21393550G>CCA388880049CHD8c.5408C>G (p.Ser1803Cys)
c.3945C>G
c.6245C>G (p.Ser2082Cys)
n.5401C>G
14g.21393550G=CA2122506033CHD8c.5408C= (p.Ser1803=)
c.3945C=
c.6245C= (p.Ser2082=)
n.5401C=
14g.21393550G>TCA257592950CHD8c.5408C>A (p.Ser1803Tyr)
c.3945C>A
c.6245C>A (p.Ser2082Tyr)
n.5401C>A
 dbSNP
14g.21393551A>CCA388880056CHD8c.5407T>G (p.Ser1803Ala)
c.3944T>G
c.6244T>G (p.Ser2082Ala)
n.5400T>G
14g.21393551A>GCA388880058CHD8c.5407T>C (p.Ser1803Pro)
c.3944T>C
c.6244T>C (p.Ser2082Pro)
n.5400T>C
 gnomAD v4
14g.21393551A>TCA388880061CHD8c.5407T>A (p.Ser1803Thr)
c.3944T>A
c.6244T>A (p.Ser2082Thr)
n.5400T>A
14g.21393552A=CA2122506036CHD8c.5406T= (p.Ser1802=)
c.3943T=
c.6243T= (p.Ser2081=)
n.5399T=
14g.21393552A>CCA484994836CHD8c.5406T>G (p.Ser1802=)
c.3943T>G
c.6243T>G (p.Ser2081=)
n.5399T>G
14g.21393552A>GCA484994838CHD8c.5406T>C (p.Ser1802=)
c.3943T>C
c.6243T>C (p.Ser2081=)
n.5399T>C
14g.21393552A>TCA7090819CHD8c.5406T>A (p.Ser1802=)
c.3943T>A
c.6243T>A (p.Ser2081=)
n.5399T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393553G>ACA388880064CHD8c.5405C>T (p.Ser1802Phe)
c.3942C>T
c.6242C>T (p.Ser2081Phe)
n.5398C>T
14g.21393553G>CCA388880066CHD8c.5405C>G (p.Ser1802Cys)
c.3942C>G
c.6242C>G (p.Ser2081Cys)
n.5398C>G
14g.21393553G>TCA388880067CHD8c.5405C>A (p.Ser1802Tyr)
c.3942C>A
c.6242C>A (p.Ser2081Tyr)
n.5398C>A
14g.21393554A>CCA388880068CHD8c.5404T>G (p.Ser1802Ala)
c.3941T>G
c.6241T>G (p.Ser2081Ala)
n.5397T>G
14g.21393554A>GCA388880069CHD8c.5404T>C (p.Ser1802Pro)
c.3941T>C
c.6241T>C (p.Ser2081Pro)
n.5397T>C
14g.21393554A>TCA388880071CHD8c.5404T>A (p.Ser1802Thr)
c.3941T>A
c.6241T>A (p.Ser2081Thr)
n.5397T>A
14g.21393555T>ACA484994841CHD8c.5403A>T (p.Pro1801=)
c.3940A>T
c.6240A>T (p.Pro2080=)
n.5396A>T
14g.21393555T>CCA484994843CHD8c.5403A>G (p.Pro1801=)
c.3940A>G
c.6240A>G (p.Pro2080=)
n.5396A>G
 ClinVar gnomAD v4
14g.21393555T>GCA484994845CHD8c.5403A>C (p.Pro1801=)
c.3940A>C
c.6240A>C (p.Pro2080=)
n.5396A>C
14g.21393556G>ACA388880074CHD8c.5402C>T (p.Pro1801Leu)
c.3939C>T
c.6239C>T (p.Pro2080Leu)
n.5395C>T
14g.21393556G>CCA388880075CHD8c.5402C>G (p.Pro1801Arg)
c.3939C>G
c.6239C>G (p.Pro2080Arg)
n.5395C>G
14g.21393556G>TCA388880078CHD8c.5402C>A (p.Pro1801Gln)
c.3939C>A
c.6239C>A (p.Pro2080Gln)
n.5395C>A
14g.21393557G>ACA388880086CHD8c.5401C>T (p.Pro1801Ser)
c.3938C>T
c.6238C>T (p.Pro2080Ser)
n.5394C>T
14g.21393557G>CCA388880081CHD8c.5401C>G (p.Pro1801Ala)
c.3938C>G
c.6238C>G (p.Pro2080Ala)
n.5394C>G
14g.21393557G>TCA388880083CHD8c.5401C>A (p.Pro1801Thr)
c.3938C>A
c.6238C>A (p.Pro2080Thr)
n.5394C>A
14g.21393558T>ACA484994851CHD8c.5400A>T (p.Ser1800=)
c.3937A>T
c.6237A>T (p.Ser2079=)
n.5393A>T
14g.21393558T>CCA484994853CHD8c.5400A>G (p.Ser1800=)
c.3937A>G
c.6237A>G (p.Ser2079=)
n.5393A>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393558T>GCA484994852CHD8c.5400A>C (p.Ser1800=)
c.3937A>C
c.6237A>C (p.Ser2079=)
n.5393A>C
14g.21393558T=CA2122506039CHD8c.5400A= (p.Ser1800=)
c.3937A=
c.6237A= (p.Ser2079=)
n.5393A=
14g.21393559G>ACA388880088CHD8c.5399C>T (p.Ser1800Leu)
c.3936C>T
c.6236C>T (p.Ser2079Leu)
n.5392C>T
14g.21393559G>CCA388880090CHD8c.5399C>G (p.Ser1800Ter)
c.3936C>G
c.6236C>G (p.Ser2079Ter)
n.5392C>G
 COSMIC COSMIC
14g.21393559G>TCA388880092CHD8c.5399C>A (p.Ser1800Ter)
c.3936C>A
c.6236C>A (p.Ser2079Ter)
n.5392C>A
14g.21393560A>CCA388880094CHD8c.5398T>G (p.Ser1800Ala)
c.3935T>G
c.6235T>G (p.Ser2079Ala)
n.5391T>G
14g.21393560A>GCA388880097CHD8c.5398T>C (p.Ser1800Pro)
c.3935T>C
c.6235T>C (p.Ser2079Pro)
n.5391T>C
14g.21393560A>TCA388880099CHD8c.5398T>A (p.Ser1800Thr)
c.3935T>A
c.6235T>A (p.Ser2079Thr)
n.5391T>A
14g.21393561C>ACA484994860CHD8c.5397G>T (p.Leu1799=)
c.3934G>T
c.6234G>T (p.Leu2078=)
n.5390G>T
14g.21393561C>GCA484994858CHD8c.5397G>C (p.Leu1799=)
c.3934G>C
c.6234G>C (p.Leu2078=)
n.5390G>C
14g.21393561C>TCA484994859CHD8c.5397G>A (p.Leu1799=)
c.3934G>A
c.6234G>A (p.Leu2078=)
n.5390G>A
14g.21393562A>CCA388880100CHD8c.5396T>G (p.Leu1799Arg)
c.3933T>G
c.6233T>G (p.Leu2078Arg)
n.5389T>G
14g.21393562A>GCA388880101CHD8c.5396T>C (p.Leu1799Pro)
c.3933T>C
c.6233T>C (p.Leu2078Pro)
n.5389T>C
14g.21393562A>TCA388880103CHD8c.5396T>A (p.Leu1799Gln)
c.3933T>A
c.6233T>A (p.Leu2078Gln)
n.5389T>A
14g.21393563G>ACA202499CHD8c.5395C>T (p.Leu1799=)
c.3932C>T
c.6232C>T (p.Leu2078=)
n.5388C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393563G>CCA388880106CHD8c.5395C>G (p.Leu1799Val)
c.3932C>G
c.6232C>G (p.Leu2078Val)
n.5388C>G
14g.21393563G=CA2122506042CHD8c.5395C= (p.Leu1799=)
c.3932C=
c.6232C= (p.Leu2078=)
n.5388C=
14g.21393563G>TCA388880109CHD8c.5395C>A (p.Leu1799Met)
c.3932C>A
c.6232C>A (p.Leu2078Met)
n.5388C>A
14g.21393564C>ACA388880111CHD8c.5394G>T (p.Lys1798Asn)
c.3931G>T
c.6231G>T (p.Lys2077Asn)
n.5387G>T
14g.21393564C=CA2122506046CHD8c.5394G= (p.Lys1798=)
c.3931G=
c.6231G= (p.Lys2077=)
n.5387G=
14g.21393564C>GCA388880113CHD8c.5394G>C (p.Lys1798Asn)
c.3931G>C
c.6231G>C (p.Lys2077Asn)
n.5387G>C
14g.21393564C>TCA7090820CHD8c.5394G>A (p.Lys1798=)
c.3931G>A
c.6231G>A (p.Lys2077=)
n.5387G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393565T>ACA388880117CHD8c.5393A>T (p.Lys1798Met)
c.3930A>T
c.6230A>T (p.Lys2077Met)
n.5386A>T
14g.21393565T>CCA388880120CHD8c.5393A>G (p.Lys1798Arg)
c.3930A>G
c.6230A>G (p.Lys2077Arg)
n.5386A>G
 dbSNP
14g.21393565T>GCA388880119CHD8c.5393A>C (p.Lys1798Thr)
c.3930A>C
c.6230A>C (p.Lys2077Thr)
n.5386A>C
14g.21393566T>ACA388880123CHD8c.5392A>T (p.Lys1798Ter)
c.3929A>T
c.6229A>T (p.Lys2077Ter)
n.5385A>T
 dbSNP
14g.21393566T>CCA388880126CHD8c.5392A>G (p.Lys1798Glu)
c.3929A>G
c.6229A>G (p.Lys2077Glu)
n.5385A>G
14g.21393566T>GCA388880124CHD8c.5392A>C (p.Lys1798Gln)
c.3929A>C
c.6229A>C (p.Lys2077Gln)
n.5385A>C
14g.21393566T=CA2122506049CHD8c.5392A= (p.Lys1798=)
c.3929A=
c.6229A= (p.Lys2077=)
n.5385A=
14g.21393567delCA645571677CHD8c.5391del (p.Ser1797ArgfsTer?)
c.3928del
c.6228del (p.Ser2076ArgfsTer?)
n.5384del
 COSMIC COSMIC
14g.21393567G>ACA484994985CHD8c.5391C>T (p.Ser1797=)
c.3928C>T
c.6228C>T (p.Ser2076=)
n.5384C>T
14g.21393567G>CCA388880128CHD8c.5391C>G (p.Ser1797Arg)
c.3928C>G
c.6228C>G (p.Ser2076Arg)
n.5384C>G
14g.21393567G>TCA388880130CHD8c.5391C>A (p.Ser1797Arg)
c.3928C>A
c.6228C>A (p.Ser2076Arg)
n.5384C>A
 gnomAD v4
14g.21393568C>ACA388880133CHD8c.5390G>T (p.Ser1797Ile)
c.3927G>T
c.6227G>T (p.Ser2076Ile)
n.5383G>T
14g.21393568C>GCA388880134CHD8c.5390G>C (p.Ser1797Thr)
c.3927G>C
c.6227G>C (p.Ser2076Thr)
n.5383G>C
14g.21393568C>TCA388880136CHD8c.5390G>A (p.Ser1797Asn)
c.3927G>A
c.6227G>A (p.Ser2076Asn)
n.5383G>A
14g.21393569T>ACA388880139CHD8c.5389A>T (p.Ser1797Cys)
c.3926A>T
c.6226A>T (p.Ser2076Cys)
n.5382A>T
14g.21393569T>CCA388880141CHD8c.5389A>G (p.Ser1797Gly)
c.3926A>G
c.6226A>G (p.Ser2076Gly)
n.5382A>G
14g.21393569T>GCA388880143CHD8c.5389A>C (p.Ser1797Arg)
c.3926A>C
c.6226A>C (p.Ser2076Arg)
n.5382A>C
14g.21393570C>ACA388880146CHD8c.5388G>T (p.Leu1796Phe)
c.3925G>T
c.6225G>T (p.Leu2075Phe)
n.5381G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393570C=CA2122506052CHD8c.5388G= (p.Leu1796=)
c.3925G=
c.6225G= (p.Leu2075=)
n.5381G=
14g.21393570C>GCA388880149CHD8c.5388G>C (p.Leu1796Phe)
c.3925G>C
c.6225G>C (p.Leu2075Phe)
n.5381G>C
 COSMIC COSMIC
14g.21393570C>TCA484994990CHD8c.5388G>A (p.Leu1796=)
c.3925G>A
c.6225G>A (p.Leu2075=)
n.5381G>A
14g.21393571A=CA2122506054CHD8c.5387T= (p.Leu1796=)
c.3924T=
c.6224T= (p.Leu2075=)
n.5380T=
14g.21393571A>CCA388880150CHD8c.5387T>G (p.Leu1796Trp)
c.3924T>G
c.6224T>G (p.Leu2075Trp)
n.5380T>G
14g.21393571A>GCA388880151CHD8c.5387T>C (p.Leu1796Ser)
c.3924T>C
c.6224T>C (p.Leu2075Ser)
n.5380T>C
 gnomAD v4
14g.21393571A>TCA388880152CHD8c.5387T>A (p.Leu1796Ter)
c.3924T>A
c.6224T>A (p.Leu2075Ter)
n.5380T>A
 dbSNP
14g.21393572A>CCA388880153CHD8c.5386T>G (p.Leu1796Val)
c.3923T>G
c.6223T>G (p.Leu2075Val)
n.5379T>G
14g.21393572A>GCA484994993CHD8c.5386T>C (p.Leu1796=)
c.3923T>C
c.6223T>C (p.Leu2075=)
n.5379T>C
14g.21393572A>TCA388880154CHD8c.5386T>A (p.Leu1796Met)
c.3923T>A
c.6223T>A (p.Leu2075Met)
n.5379T>A
14g.21393573G>ACA7090821CHD8c.5385C>T (p.Asp1795=)
c.3922C>T
c.6222C>T (p.Asp2074=)
n.5378C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393573G>CCA388880156CHD8c.5385C>G (p.Asp1795Glu)
c.3922C>G
c.6222C>G (p.Asp2074Glu)
n.5378C>G
14g.21393573G=CA2122506058CHD8c.5385C= (p.Asp1795=)
c.3922C=
c.6222C= (p.Asp2074=)
n.5378C=
14g.21393573G>TCA388880155CHD8c.5385C>A (p.Asp1795Glu)
c.3922C>A
c.6222C>A (p.Asp2074Glu)
n.5378C>A
 dbSNP gnomAD v2
14g.21393574T>ACA388880157CHD8c.5384A>T (p.Asp1795Val)
c.3921A>T
c.6221A>T (p.Asp2074Val)
n.5377A>T
14g.21393574T>CCA388880158CHD8c.5384A>G (p.Asp1795Gly)
c.3921A>G
c.6221A>G (p.Asp2074Gly)
n.5377A>G
14g.21393574T>GCA388880159CHD8c.5384A>C (p.Asp1795Ala)
c.3921A>C
c.6221A>C (p.Asp2074Ala)
n.5377A>C
14g.21393575C>ACA388880160CHD8c.5383G>T (p.Asp1795Tyr)
c.3920G>T
c.6220G>T (p.Asp2074Tyr)
n.5376G>T
14g.21393575C=CA2122506061CHD8c.5383G= (p.Asp1795=)
c.3920G=
c.6220G= (p.Asp2074=)
n.5376G=
14g.21393575C>GCA388880161CHD8c.5383G>C (p.Asp1795His)
c.3920G>C
c.6220G>C (p.Asp2074His)
n.5376G>C
14g.21393575C>TCA257593021CHD8c.5383G>A (p.Asp1795Asn)
c.3920G>A
c.6220G>A (p.Asp2074Asn)
n.5376G>A
 ClinVar dbSNP
14g.21393576C>ACA484994997CHD8c.5382G>T (p.Leu1794=)
c.3919G>T
c.6219G>T (p.Leu2073=)
n.5375G>T
14g.21393576C>GCA484994998CHD8c.5382G>C (p.Leu1794=)
c.3919G>C
c.6219G>C (p.Leu2073=)
n.5375G>C
14g.21393576C>TCA484994999CHD8c.5382G>A (p.Leu1794=)
c.3919G>A
c.6219G>A (p.Leu2073=)
n.5375G>A
14g.21393577A>CCA388880162CHD8c.5381T>G (p.Leu1794Arg)
c.3918T>G
c.6218T>G (p.Leu2073Arg)
n.5374T>G
14g.21393577A>GCA388880163CHD8c.5381T>C (p.Leu1794Pro)
c.3918T>C
c.6218T>C (p.Leu2073Pro)
n.5374T>C
 gnomAD v4
14g.21393577A>TCA388880164CHD8c.5381T>A (p.Leu1794Gln)
c.3918T>A
c.6218T>A (p.Leu2073Gln)
n.5374T>A
14g.21393578G>ACA484995004CHD8c.5380C>T (p.Leu1794=)
c.3917C>T
c.6217C>T (p.Leu2073=)
n.5373C>T
 dbSNP gnomAD v4
14g.21393578G>CCA388880165CHD8c.5380C>G (p.Leu1794Val)
c.3917C>G
c.6217C>G (p.Leu2073Val)
n.5373C>G
14g.21393578G=CA2122506063CHD8c.5380C= (p.Leu1794=)
c.3917C=
c.6217C= (p.Leu2073=)
n.5373C=
14g.21393578G>TCA388880166CHD8c.5380C>A (p.Leu1794Met)
c.3917C>A
c.6217C>A (p.Leu2073Met)
n.5373C>A
14g.21393579C>ACA388880167CHD8c.5379G>T (p.Glu1793Asp)
c.3916G>T
c.6216G>T (p.Glu2072Asp)
n.5372G>T
14g.21393579C>GCA388880168CHD8c.5379G>C (p.Glu1793Asp)
c.3916G>C
c.6216G>C (p.Glu2072Asp)
n.5372G>C
14g.21393579C>TCA484995005CHD8c.5379G>A (p.Glu1793=)
c.3916G>A
c.6216G>A (p.Glu2072=)
n.5372G>A
 gnomAD v4
14g.21393580T>ACA388880169CHD8c.5378A>T (p.Glu1793Val)
c.3915A>T
c.6215A>T (p.Glu2072Val)
n.5371A>T
14g.21393580T>CCA388880170CHD8c.5378A>G (p.Glu1793Gly)
c.3915A>G
c.6215A>G (p.Glu2072Gly)
n.5371A>G
14g.21393580T>GCA388880171CHD8c.5378A>C (p.Glu1793Ala)
c.3915A>C
c.6215A>C (p.Glu2072Ala)
n.5371A>C
14g.21393581C>ACA388880172CHD8c.5377G>T (p.Glu1793Ter)
c.3914G>T
c.6214G>T (p.Glu2072Ter)
n.5370G>T
 dbSNP
14g.21393581C=CA2122506065CHD8c.5377G= (p.Glu1793=)
c.3914G=
c.6214G= (p.Glu2072=)
n.5370G=
14g.21393581C>GCA388880173CHD8c.5377G>C (p.Glu1793Gln)
c.3914G>C
c.6214G>C (p.Glu2072Gln)
n.5370G>C
14g.21393581C>TCA388880174CHD8c.5377G>A (p.Glu1793Lys)
c.3914G>A
c.6214G>A (p.Glu2072Lys)
n.5370G>A
14g.21393582A=CA2122506067CHD8c.5376T= (p.Ser1792=)
c.3913T=
c.6213T= (p.Ser2071=)
n.5369T=
14g.21393582A>CCA484995008CHD8c.5376T>G (p.Ser1792=)
c.3913T>G
c.6213T>G (p.Ser2071=)
n.5369T>G
14g.21393582A>GCA484995010CHD8c.5376T>C (p.Ser1792=)
c.3913T>C
c.6213T>C (p.Ser2071=)
n.5369T>C
 dbSNP gnomAD v2 gnomAD v4
14g.21393582A>TCA484995009CHD8c.5376T>A (p.Ser1792=)
c.3913T>A
c.6213T>A (p.Ser2071=)
n.5369T>A
14g.21393583G>ACA388880175CHD8c.5375C>T (p.Ser1792Phe)
c.3912C>T
c.6212C>T (p.Ser2071Phe)
n.5368C>T
14g.21393583G>CCA388880176CHD8c.5375C>G (p.Ser1792Cys)
c.3912C>G
c.6212C>G (p.Ser2071Cys)
n.5368C>G
14g.21393583G>TCA388880177CHD8c.5375C>A (p.Ser1792Tyr)
c.3912C>A
c.6212C>A (p.Ser2071Tyr)
n.5368C>A
14g.21393584A=CA2122506069CHD8c.5374T= (p.Ser1792=)
c.3911T=
c.6211T= (p.Ser2071=)
n.5367T=
14g.21393584A>CCA388880178CHD8c.5374T>G (p.Ser1792Ala)
c.3911T>G
c.6211T>G (p.Ser2071Ala)
n.5367T>G
14g.21393584A>GCA388880179CHD8c.5374T>C (p.Ser1792Pro)
c.3911T>C
c.6211T>C (p.Ser2071Pro)
n.5367T>C
 dbSNP gnomAD v2
14g.21393584A>TCA388880180CHD8c.5374T>A (p.Ser1792Thr)
c.3911T>A
c.6211T>A (p.Ser2071Thr)
n.5367T>A
14g.21393585G>ACA484995014CHD8c.5373C>T (p.Asp1791=)
c.3910C>T
c.6210C>T (p.Asp2070=)
n.5366C>T
 gnomAD v4
14g.21393585G>CCA388880182CHD8c.5373C>G (p.Asp1791Glu)
c.3910C>G
c.6210C>G (p.Asp2070Glu)
n.5366C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393585G=CA2122506071CHD8c.5373C= (p.Asp1791=)
c.3910C=
c.6210C= (p.Asp2070=)
n.5366C=
14g.21393585G>TCA388880181CHD8c.5373C>A (p.Asp1791Glu)
c.3910C>A
c.6210C>A (p.Asp2070Glu)
n.5366C>A
14g.21393586T>ACA388880183CHD8c.5372A>T (p.Asp1791Val)
c.3909A>T
c.6209A>T (p.Asp2070Val)
n.5365A>T
14g.21393586T>CCA388880184CHD8c.5372A>G (p.Asp1791Gly)
c.3909A>G
c.6209A>G (p.Asp2070Gly)
n.5365A>G
14g.21393586T>GCA388880185CHD8c.5372A>C (p.Asp1791Ala)
c.3909A>C
c.6209A>C (p.Asp2070Ala)
n.5365A>C
14g.21393587C>ACA388880186CHD8c.5371G>T (p.Asp1791Tyr)
c.3908G>T
c.6208G>T (p.Asp2070Tyr)
n.5364G>T
14g.21393587C>GCA388880187CHD8c.5371G>C (p.Asp1791His)
c.3908G>C
c.6208G>C (p.Asp2070His)
n.5364G>C
14g.21393587C>TCA388880188CHD8c.5371G>A (p.Asp1791Asn)
c.3908G>A
c.6208G>A (p.Asp2070Asn)
n.5364G>A
 gnomAD v4
14g.21393588C>ACA484995018CHD8c.5370G>T (p.Ser1790=)
c.3907G>T
c.6207G>T (p.Ser2069=)
n.5363G>T
14g.21393588C=CA2122506073CHD8c.5370G= (p.Ser1790=)
c.3907G=
c.6207G= (p.Ser2069=)
n.5363G=
14g.21393588C>GCA484995019CHD8c.5370G>C (p.Ser1790=)
c.3907G>C
c.6207G>C (p.Ser2069=)
n.5363G>C
14g.21393588C>TCA7090822CHD8c.5370G>A (p.Ser1790=)
c.3907G>A
c.6207G>A (p.Ser2069=)
n.5363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393589G>ACA7090823CHD8c.5369C>T (p.Ser1790Leu)
c.3906C>T
c.6206C>T (p.Ser2069Leu)
n.5362C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393589G>CCA388880189CHD8c.5369C>G (p.Ser1790Trp)
c.3906C>G
c.6206C>G (p.Ser2069Trp)
n.5362C>G
14g.21393589G=CA2122506076CHD8c.5369C= (p.Ser1790=)
c.3906C=
c.6206C= (p.Ser2069=)
n.5362C=
14g.21393589G>TCA388880190CHD8c.5369C>A (p.Ser1790Ter)
c.3906C>A
c.6206C>A (p.Ser2069Ter)
n.5362C>A
 dbSNP
14g.21393590A>CCA388880191CHD8c.5368T>G (p.Ser1790Ala)
c.3905T>G
c.6205T>G (p.Ser2069Ala)
n.5361T>G
14g.21393590A>GCA388880192CHD8c.5368T>C (p.Ser1790Pro)
c.3905T>C
c.6205T>C (p.Ser2069Pro)
n.5361T>C
14g.21393590A>TCA388880193CHD8c.5368T>A (p.Ser1790Thr)
c.3905T>A
c.6205T>A (p.Ser2069Thr)
n.5361T>A
14g.21393591A=CA2122506079CHD8c.5367T= (p.Asp1789=)
c.3904T=
c.6204T= (p.Asp2068=)
n.5360T=
14g.21393591A>CCA388880194CHD8c.5367T>G (p.Asp1789Glu)
c.3904T>G
c.6204T>G (p.Asp2068Glu)
n.5360T>G
14g.21393591A>GCA484995021CHD8c.5367T>C (p.Asp1789=)
c.3904T>C
c.6204T>C (p.Asp2068=)
n.5360T>C
 gnomAD v4
14g.21393591A>TCA388880195CHD8c.5367T>A (p.Asp1789Glu)
c.3904T>A
c.6204T>A (p.Asp2068Glu)
n.5360T>A
14g.21393592T>ACA388880196CHD8c.5366A>T (p.Asp1789Val)
c.3903A>T
c.6203A>T (p.Asp2068Val)
n.5359A>T
14g.21393592T>CCA388880198CHD8c.5366A>G (p.Asp1789Gly)
c.3903A>G
c.6203A>G (p.Asp2068Gly)
n.5359A>G
14g.21393592T>GCA388880197CHD8c.5366A>C (p.Asp1789Ala)
c.3903A>C
c.6203A>C (p.Asp2068Ala)
n.5359A>C
14g.21393600_21393605dupCA612384297CHD8c.5361_5366dup (p.Asp1788_Asp1789insGluAsp)
c.3898_3903dup
c.6198_6203dup (p.Asp2067_Asp2068insGluAsp)
n.5354_5359dup
 dbSNP gnomAD v2 gnomAD v4
14g.21393593C>ACA388880199CHD8c.5365G>T (p.Asp1789Tyr)
c.3902G>T
c.6202G>T (p.Asp2068Tyr)
n.5358G>T
14g.21393593C>GCA388880200CHD8c.5365G>C (p.Asp1789His)
c.3902G>C
c.6202G>C (p.Asp2068His)
n.5358G>C
14g.21393593C>TCA388880201CHD8c.5365G>A (p.Asp1789Asn)
c.3902G>A
c.6202G>A (p.Asp2068Asn)
n.5358G>A
14g.21393594A>CCA388880202CHD8c.5364T>G (p.Asp1788Glu)
c.3901T>G
c.6201T>G (p.Asp2067Glu)
n.5357T>G
14g.21393594A>GCA484995026CHD8c.5364T>C (p.Asp1788=)
c.3901T>C
c.6201T>C (p.Asp2067=)
n.5357T>C
14g.21393594A>TCA388880203CHD8c.5364T>A (p.Asp1788Glu)
c.3901T>A
c.6201T>A (p.Asp2067Glu)
n.5357T>A
14g.21393595T>ACA388880204CHD8c.5363A>T (p.Asp1788Val)
c.3900A>T
c.6200A>T (p.Asp2067Val)
n.5356A>T
14g.21393595T>CCA388880205CHD8c.5363A>G (p.Asp1788Gly)
c.3900A>G
c.6200A>G (p.Asp2067Gly)
n.5356A>G
14g.21393595T>GCA388880206CHD8c.5363A>C (p.Asp1788Ala)
c.3900A>C
c.6200A>C (p.Asp2067Ala)
n.5356A>C
14g.21393596C>ACA388880207CHD8c.5362G>T (p.Asp1788Tyr)
c.3899G>T
c.6199G>T (p.Asp2067Tyr)
n.5355G>T
14g.21393596C>GCA388880208CHD8c.5362G>C (p.Asp1788His)
c.3899G>C
c.6199G>C (p.Asp2067His)
n.5355G>C
14g.21393596C>TCA388880209CHD8c.5362G>A (p.Asp1788Asn)
c.3899G>A
c.6199G>A (p.Asp2067Asn)
n.5355G>A
14g.21393597C>ACA388880211CHD8c.5361G>T (p.Glu1787Asp)
c.3898G>T
c.6198G>T (p.Glu2066Asp)
n.5354G>T
14g.21393597C>GCA388880210CHD8c.5361G>C (p.Glu1787Asp)
c.3898G>C
c.6198G>C (p.Glu2066Asp)
n.5354G>C
14g.21393597C>TCA484995029CHD8c.5361G>A (p.Glu1787=)
c.3898G>A
c.6198G>A (p.Glu2066=)
n.5354G>A
 gnomAD v4
14g.21393598T>ACA388880212CHD8c.5360A>T (p.Glu1787Val)
c.3897A>T
c.6197A>T (p.Glu2066Val)
n.5353A>T
14g.21393598T>CCA388880213CHD8c.5360A>G (p.Glu1787Gly)
c.3897A>G
c.6197A>G (p.Glu2066Gly)
n.5353A>G
14g.21393598T>GCA388880214CHD8c.5360A>C (p.Glu1787Ala)
c.3897A>C
c.6197A>C (p.Glu2066Ala)
n.5353A>C
14g.21393599C>ACA388880215CHD8c.5359G>T (p.Glu1787Ter)
c.3896G>T
c.6196G>T (p.Glu2066Ter)
n.5352G>T
 dbSNP
14g.21393599C=CA2122506082CHD8c.5359G= (p.Glu1787=)
c.3896G=
c.6196G= (p.Glu2066=)
n.5352G=
14g.21393599C>GCA388880216CHD8c.5359G>C (p.Glu1787Gln)
c.3896G>C
c.6196G>C (p.Glu2066Gln)
n.5352G>C
14g.21393599C>TCA388880217CHD8c.5359G>A (p.Glu1787Lys)
c.3896G>A
c.6196G>A (p.Glu2066Lys)
n.5352G>A
 dbSNP gnomAD v4
14g.21393600A>CCA388880218CHD8c.5358T>G (p.Asp1786Glu)
c.3895T>G
c.6195T>G (p.Asp2065Glu)
n.5351T>G
 gnomAD v4
14g.21393600A>GCA484995031CHD8c.5358T>C (p.Asp1786=)
c.3895T>C
c.6195T>C (p.Asp2065=)
n.5351T>C
14g.21393600A>TCA388880219CHD8c.5358T>A (p.Asp1786Glu)
c.3895T>A
c.6195T>A (p.Asp2065Glu)
n.5351T>A
14g.21393601T>ACA388880220CHD8c.5357A>T (p.Asp1786Val)
c.3894A>T
c.6194A>T (p.Asp2065Val)
n.5350A>T
 gnomAD v4
14g.21393601T>CCA388880221CHD8c.5357A>G (p.Asp1786Gly)
c.3894A>G
c.6194A>G (p.Asp2065Gly)
n.5350A>G
14g.21393601T>GCA388880222CHD8c.5357A>C (p.Asp1786Ala)
c.3894A>C
c.6194A>C (p.Asp2065Ala)
n.5350A>C
14g.21393602C>ACA388880224CHD8c.5356G>T (p.Asp1786Tyr)
c.3893G>T
c.6193G>T (p.Asp2065Tyr)
n.5349G>T
14g.21393602C=CA2122506084CHD8c.5356G= (p.Asp1786=)
c.3893G=
c.6193G= (p.Asp2065=)
n.5349G=
14g.21393602C>GCA388880225CHD8c.5356G>C (p.Asp1786His)
c.3893G>C
c.6193G>C (p.Asp2065His)
n.5349G>C
14g.21393602C>TCA388880223CHD8c.5356G>A (p.Asp1786Asn)
c.3893G>A
c.6193G>A (p.Asp2065Asn)
n.5349G>A
 dbSNP gnomAD v4
14g.21393603C>ACA388880226CHD8c.5355G>T (p.Glu1785Asp)
c.3892G>T
c.6192G>T (p.Glu2064Asp)
n.5348G>T
14g.21393603C=CA2122506086CHD8c.5355G= (p.Glu1785=)
c.3892G=
c.6192G= (p.Glu2064=)
n.5348G=
14g.21393603C>GCA388880227CHD8c.5355G>C (p.Glu1785Asp)
c.3892G>C
c.6192G>C (p.Glu2064Asp)
n.5348G>C
14g.21393603C>TCA7090824CHD8c.5355G>A (p.Glu1785=)
c.3892G>A
c.6192G>A (p.Glu2064=)
n.5348G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393604T>ACA388880228CHD8c.5354A>T (p.Glu1785Val)
c.3891A>T
c.6191A>T (p.Glu2064Val)
n.5347A>T
14g.21393604T>CCA388880229CHD8c.5354A>G (p.Glu1785Gly)
c.3891A>G
c.6191A>G (p.Glu2064Gly)
n.5347A>G
14g.21393604T>GCA388880230CHD8c.5354A>C (p.Glu1785Ala)
c.3891A>C
c.6191A>C (p.Glu2064Ala)
n.5347A>C
14g.21393605C>ACA388880231CHD8c.5353G>T (p.Glu1785Ter)
c.3890G>T
c.6190G>T (p.Glu2064Ter)
n.5346G>T
 dbSNP
14g.21393605C=CA2122506088CHD8c.5353G= (p.Glu1785=)
c.3890G=
c.6190G= (p.Glu2064=)
n.5346G=
14g.21393605C>GCA388880232CHD8c.5353G>C (p.Glu1785Gln)
c.3890G>C
c.6190G>C (p.Glu2064Gln)
n.5346G>C
14g.21393605C>TCA7090825CHD8c.5353G>A (p.Glu1785Lys)
c.3890G>A
c.6190G>A (p.Glu2064Lys)
n.5346G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393606C>ACA484995039CHD8c.5352G>T (p.Leu1784=)
c.3889G>T
c.6189G>T (p.Leu2063=)
n.5345G>T
14g.21393606C>GCA484995041CHD8c.5352G>C (p.Leu1784=)
c.3889G>C
c.6189G>C (p.Leu2063=)
n.5345G>C
14g.21393606C>TCA484995040CHD8c.5352G>A (p.Leu1784=)
c.3889G>A
c.6189G>A (p.Leu2063=)
n.5345G>A
14g.21393607A>CCA388880233CHD8c.5351T>G (p.Leu1784Arg)
c.3888T>G
c.6188T>G (p.Leu2063Arg)
n.5344T>G
14g.21393607A>GCA388880234CHD8c.5351T>C (p.Leu1784Pro)
c.3888T>C
c.6188T>C (p.Leu2063Pro)
n.5344T>C
14g.21393607A>TCA388880235CHD8c.5351T>A (p.Leu1784Gln)
c.3888T>A
c.6188T>A (p.Leu2063Gln)
n.5344T>A
14g.21393608G>ACA484995043CHD8c.5350C>T (p.Leu1784=)
c.3887C>T
c.6187C>T (p.Leu2063=)
n.5343C>T
14g.21393608G>CCA388880236CHD8c.5350C>G (p.Leu1784Val)
c.3887C>G
c.6187C>G (p.Leu2063Val)
n.5343C>G
14g.21393608G>TCA388880237CHD8c.5350C>A (p.Leu1784Met)
c.3887C>A
c.6187C>A (p.Leu2063Met)
n.5343C>A
14g.21393609T>ACA388880238CHD8c.5349A>T (p.Lys1783Asn)
c.3886A>T
c.6186A>T (p.Lys2062Asn)
n.5342A>T
14g.21393609T>CCA484995044CHD8c.5349A>G (p.Lys1783=)
c.3886A>G
c.6186A>G (p.Lys2062=)
n.5342A>G
14g.21393609T>GCA388880239CHD8c.5349A>C (p.Lys1783Asn)
c.3886A>C
c.6186A>C (p.Lys2062Asn)
n.5342A>C
14g.21393610T>ACA388880240CHD8c.5348A>T (p.Lys1783Ile)
c.3885A>T
c.6185A>T (p.Lys2062Ile)
n.5341A>T
 gnomAD v4
14g.21393610T>CCA388880241CHD8c.5348A>G (p.Lys1783Arg)
c.3885A>G
c.6185A>G (p.Lys2062Arg)
n.5341A>G
14g.21393610T>GCA388880242CHD8c.5348A>C (p.Lys1783Thr)
c.3885A>C
c.6185A>C (p.Lys2062Thr)
n.5341A>C
 gnomAD v4
14g.21393611T>ACA388880243CHD8c.5347A>T (p.Lys1783Ter)
c.3884A>T
c.6184A>T (p.Lys2062Ter)
n.5340A>T
 dbSNP
14g.21393611T>CCA388880244CHD8c.5347A>G (p.Lys1783Glu)
c.3884A>G
c.6184A>G (p.Lys2062Glu)
n.5340A>G
14g.21393611T>GCA388880245CHD8c.5347A>C (p.Lys1783Gln)
c.3884A>C
c.6184A>C (p.Lys2062Gln)
n.5340A>C
14g.21393611T=CA2122506089CHD8c.5347A= (p.Lys1783=)
c.3884A=
c.6184A= (p.Lys2062=)
n.5340A=
14g.21393612G>ACA484995046CHD8c.5346C>T (p.Val1782=)
c.3883C>T
c.6183C>T (p.Val2061=)
n.5339C>T
14g.21393612G>CCA484995047CHD8c.5346C>G (p.Val1782=)
c.3883C>G
c.6183C>G (p.Val2061=)
n.5339C>G
14g.21393612G>TCA484995048CHD8c.5346C>A (p.Val1782=)
c.3883C>A
c.6183C>A (p.Val2061=)
n.5339C>A
14g.21393613A>CCA388880246CHD8c.5345T>G (p.Val1782Gly)
c.3882T>G
c.6182T>G (p.Val2061Gly)
n.5338T>G
14g.21393613A>GCA388880247CHD8c.5345T>C (p.Val1782Ala)
c.3882T>C
c.6182T>C (p.Val2061Ala)
n.5338T>C
14g.21393613A>TCA388880248CHD8c.5345T>A (p.Val1782Asp)
c.3882T>A
c.6182T>A (p.Val2061Asp)
n.5338T>A
14g.21393614C>ACA388880249CHD8c.5344G>T (p.Val1782Phe)
c.3881G>T
c.6181G>T (p.Val2061Phe)
n.5337G>T
14g.21393614C>GCA388880250CHD8c.5344G>C (p.Val1782Leu)
c.3881G>C
c.6181G>C (p.Val2061Leu)
n.5337G>C
14g.21393614C>TCA388880251CHD8c.5344G>A (p.Val1782Ile)
c.3881G>A
c.6181G>A (p.Val2061Ile)
n.5337G>A
14g.21393615T>ACA484995050CHD8c.5343A>T (p.Pro1781=)
c.3880A>T
c.6180A>T (p.Pro2060=)
n.5336A>T
14g.21393615T>CCA484995051CHD8c.5343A>G (p.Pro1781=)
c.3880A>G
c.6180A>G (p.Pro2060=)
n.5336A>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393615T>GCA484995052CHD8c.5343A>C (p.Pro1781=)
c.3880A>C
c.6180A>C (p.Pro2060=)
n.5336A>C
14g.21393615T=CA2122506091CHD8c.5343A= (p.Pro1781=)
c.3880A=
c.6180A= (p.Pro2060=)
n.5336A=
14g.21393616G>ACA388880253CHD8c.5342C>T (p.Pro1781Leu)
c.3879C>T
c.6179C>T (p.Pro2060Leu)
n.5335C>T
14g.21393616G>CCA7090826CHD8c.5342C>G (p.Pro1781Arg)
c.3879C>G
c.6179C>G (p.Pro2060Arg)
n.5335C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393616G=CA2122506092CHD8c.5342C= (p.Pro1781=)
c.3879C=
c.6179C= (p.Pro2060=)
n.5335C=
14g.21393616G>TCA388880252CHD8c.5342C>A (p.Pro1781Gln)
c.3879C>A
c.6179C>A (p.Pro2060Gln)
n.5335C>A
14g.21393617G>ACA7090827CHD8c.5341C>T (p.Pro1781Ser)
c.3878C>T
c.6178C>T (p.Pro2060Ser)
n.5334C>T
 dbSNP ExAC gnomAD v2
14g.21393617G>CCA388880255CHD8c.5341C>G (p.Pro1781Ala)
c.3878C>G
c.6178C>G (p.Pro2060Ala)
n.5334C>G
14g.21393617G=CA2122506094CHD8c.5341C= (p.Pro1781=)
c.3878C=
c.6178C= (p.Pro2060=)
n.5334C=
14g.21393617G>TCA388880254CHD8c.5341C>A (p.Pro1781Thr)
c.3878C>A
c.6178C>A (p.Pro2060Thr)
n.5334C>A
14g.21393618T>ACA484995055CHD8c.5340A>T (p.Pro1780=)
c.3877A>T
c.6177A>T (p.Pro2059=)
n.5333A>T
14g.21393618T>CCA484995057CHD8c.5340A>G (p.Pro1780=)
c.3877A>G
c.6177A>G (p.Pro2059=)
n.5333A>G
14g.21393618T>GCA484995056CHD8c.5340A>C (p.Pro1780=)
c.3877A>C
c.6177A>C (p.Pro2059=)
n.5333A>C
14g.21393619G>ACA388880256CHD8c.5339C>T (p.Pro1780Leu)
c.3876C>T
c.6176C>T (p.Pro2059Leu)
n.5332C>T
 dbSNP gnomAD v4
14g.21393619G>CCA388880257CHD8c.5339C>G (p.Pro1780Arg)
c.3876C>G
c.6176C>G (p.Pro2059Arg)
n.5332C>G
14g.21393619G=CA2122506096CHD8c.5339C= (p.Pro1780=)
c.3876C=
c.6176C= (p.Pro2059=)
n.5332C=
14g.21393619G>TCA388880258CHD8c.5339C>A (p.Pro1780Gln)
c.3876C>A
c.6176C>A (p.Pro2059Gln)
n.5332C>A
14g.21393620G>ACA388880259CHD8c.5338C>T (p.Pro1780Ser)
c.3875C>T
c.6175C>T (p.Pro2059Ser)
n.5331C>T
14g.21393620G>CCA388880260CHD8c.5338C>G (p.Pro1780Ala)
c.3875C>G
c.6175C>G (p.Pro2059Ala)
n.5331C>G
14g.21393620G>TCA388880261CHD8c.5338C>A (p.Pro1780Thr)
c.3875C>A
c.6175C>A (p.Pro2059Thr)
n.5331C>A
14g.21393621A>CCA484995058CHD8c.5337T>G (p.Val1779=)
c.3874T>G
c.6174T>G (p.Val2058=)
n.5330T>G
14g.21393621A>GCA484995059CHD8c.5337T>C (p.Val1779=)
c.3874T>C
c.6174T>C (p.Val2058=)
n.5330T>C
 gnomAD v4
14g.21393621A>TCA484995060CHD8c.5337T>A (p.Val1779=)
c.3874T>A
c.6174T>A (p.Val2058=)
n.5330T>A
14g.21393622A>CCA388880264CHD8c.5336T>G (p.Val1779Gly)
c.3873T>G
c.6173T>G (p.Val2058Gly)
n.5329T>G
14g.21393622A>GCA388880262CHD8c.5336T>C (p.Val1779Ala)
c.3873T>C
c.6173T>C (p.Val2058Ala)
n.5329T>C
14g.21393622A>TCA388880263CHD8c.5336T>A (p.Val1779Asp)
c.3873T>A
c.6173T>A (p.Val2058Asp)
n.5329T>A
14g.21393623C>ACA388880265CHD8c.5335G>T (p.Val1779Phe)
c.3872G>T
c.6172G>T (p.Val2058Phe)
n.5328G>T
14g.21393623C>GCA388880266CHD8c.5335G>C (p.Val1779Leu)
c.3872G>C
c.6172G>C (p.Val2058Leu)
n.5328G>C
14g.21393623C>TCA388880267CHD8c.5335G>A (p.Val1779Ile)
c.3872G>A
c.6172G>A (p.Val2058Ile)
n.5328G>A
14g.21393624A=CA2122506098CHD8c.5334T= (p.Ser1778=)
c.3871T=
c.6171T= (p.Ser2057=)
n.5327T=
14g.21393624A>CCA388880268CHD8c.5334T>G (p.Ser1778Arg)
c.3871T>G
c.6171T>G (p.Ser2057Arg)
n.5327T>G
14g.21393624A>GCA484995063CHD8c.5334T>C (p.Ser1778=)
c.3871T>C
c.6171T>C (p.Ser2057=)
n.5327T>C
 dbSNP gnomAD v4
14g.21393624A>TCA388880269CHD8c.5334T>A (p.Ser1778Arg)
c.3871T>A
c.6171T>A (p.Ser2057Arg)
n.5327T>A
14g.21393625C>ACA388880272CHD8c.5333G>T (p.Ser1778Ile)
c.3870G>T
c.6170G>T (p.Ser2057Ile)
n.5326G>T
14g.21393625C=CA2122506099CHD8c.5333G= (p.Ser1778=)
c.3870G=
c.6170G= (p.Ser2057=)
n.5326G=
14g.21393625C>GCA388880270CHD8c.5333G>C (p.Ser1778Thr)
c.3870G>C
c.6170G>C (p.Ser2057Thr)
n.5326G>C
 gnomAD v4
14g.21393625C>TCA388880271CHD8c.5333G>A (p.Ser1778Asn)
c.3870G>A
c.6170G>A (p.Ser2057Asn)
n.5326G>A
 dbSNP
14g.21393626T>ACA388880273CHD8c.5332A>T (p.Ser1778Cys)
c.3869A>T
c.6169A>T (p.Ser2057Cys)
n.5325A>T
14g.21393626T>CCA388880274CHD8c.5332A>G (p.Ser1778Gly)
c.3869A>G
c.6169A>G (p.Ser2057Gly)
n.5325A>G
14g.21393626T>GCA388880275CHD8c.5332A>C (p.Ser1778Arg)
c.3869A>C
c.6169A>C (p.Ser2057Arg)
n.5325A>C
 ClinVar
14g.21393627C>ACA484995065CHD8c.5331G>T (p.Arg1777=)
c.3868G>T
c.6168G>T (p.Arg2056=)
n.5324G>T
14g.21393627C=CA2122506101CHD8c.5331G= (p.Arg1777=)
c.3868G=
c.6168G= (p.Arg2056=)
n.5324G=
14g.21393627C>GCA484995066CHD8c.5331G>C (p.Arg1777=)
c.3868G>C
c.6168G>C (p.Arg2056=)
n.5324G>C
14g.21393627C>TCA7090828CHD8c.5331G>A (p.Arg1777=)
c.3868G>A
c.6168G>A (p.Arg2056=)
n.5324G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393628C>ACA388880276CHD8c.5330G>T (p.Arg1777Leu)
c.3867G>T
c.6167G>T (p.Arg2056Leu)
n.5323G>T
14g.21393628C=CA2122506103CHD8c.5330G= (p.Arg1777=)
c.3867G=
c.6167G= (p.Arg2056=)
n.5323G=
14g.21393628C>GCA257593057CHD8c.5330G>C (p.Arg1777Pro)
c.3867G>C
c.6167G>C (p.Arg2056Pro)
n.5323G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393628C>TCA7090829CHD8c.5330G>A (p.Arg1777Gln)
c.3867G>A
c.6167G>A (p.Arg2056Gln)
n.5323G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched