Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
14g.21393629G>ACA7090830CHD8c.5329C>T (p.Arg1777Trp)
c.3866C>T
c.6166C>T (p.Arg2056Trp)
n.5322C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393629G>CCA388880277CHD8c.5329C>G (p.Arg1777Gly)
c.3866C>G
c.6166C>G (p.Arg2056Gly)
n.5322C>G
14g.21393629G=CA2122506105CHD8c.5329C= (p.Arg1777=)
c.3866C=
c.6166C= (p.Arg2056=)
n.5322C=
14g.21393629G>TCA484995068CHD8c.5329C>A (p.Arg1777=)
c.3866C>A
c.6166C>A (p.Arg2056=)
n.5322C>A
14g.21393630G>ACA484995070CHD8c.5328C>T (p.Ser1776=)
c.3865C>T
c.6165C>T (p.Ser2055=)
n.5321C>T
14g.21393630G>CCA484995072CHD8c.5328C>G (p.Ser1776=)
c.3865C>G
c.6165C>G (p.Ser2055=)
n.5321C>G
14g.21393630G>TCA484995071CHD8c.5328C>A (p.Ser1776=)
c.3865C>A
c.6165C>A (p.Ser2055=)
n.5321C>A
14g.21393631G>ACA388880278CHD8c.5327C>T (p.Ser1776Phe)
c.3864C>T
c.6164C>T (p.Ser2055Phe)
n.5320C>T
 gnomAD v4
14g.21393631G>CCA388880279CHD8c.5327C>G (p.Ser1776Cys)
c.3864C>G
c.6164C>G (p.Ser2055Cys)
n.5320C>G
14g.21393631G>TCA388880280CHD8c.5327C>A (p.Ser1776Tyr)
c.3864C>A
c.6164C>A (p.Ser2055Tyr)
n.5320C>A
14g.21393632A>CCA388880281CHD8c.5326T>G (p.Ser1776Ala)
c.3863T>G
c.6163T>G (p.Ser2055Ala)
n.5319T>G
14g.21393632A>GCA388880283CHD8c.5326T>C (p.Ser1776Pro)
c.3863T>C
c.6163T>C (p.Ser2055Pro)
n.5319T>C
14g.21393632A>TCA388880282CHD8c.5326T>A (p.Ser1776Thr)
c.3863T>A
c.6163T>A (p.Ser2055Thr)
n.5319T>A
14g.21393633A>CCA484995075CHD8c.5325T>G (p.Val1775=)
c.3862T>G
c.6162T>G (p.Val2054=)
n.5318T>G
14g.21393633A>GCA484995073CHD8c.5325T>C (p.Val1775=)
c.3862T>C
c.6162T>C (p.Val2054=)
n.5318T>C
14g.21393633A>TCA484995074CHD8c.5325T>A (p.Val1775=)
c.3862T>A
c.6162T>A (p.Val2054=)
n.5318T>A
14g.21393634A>CCA388880284CHD8c.5324T>G (p.Val1775Gly)
c.3861T>G
c.6161T>G (p.Val2054Gly)
n.5317T>G
14g.21393634A>GCA388880285CHD8c.5324T>C (p.Val1775Ala)
c.3861T>C
c.6161T>C (p.Val2054Ala)
n.5317T>C
14g.21393634A>TCA388880286CHD8c.5324T>A (p.Val1775Asp)
c.3861T>A
c.6161T>A (p.Val2054Asp)
n.5317T>A
14g.21393635C>ACA388880287CHD8c.5323G>T (p.Val1775Phe)
c.3860G>T
c.6160G>T (p.Val2054Phe)
n.5316G>T
 dbSNP
14g.21393635C=CA2122506107CHD8c.5323G= (p.Val1775=)
c.3860G=
c.6160G= (p.Val2054=)
n.5316G=
14g.21393635C>GCA388880288CHD8c.5323G>C (p.Val1775Leu)
c.3860G>C
c.6160G>C (p.Val2054Leu)
n.5316G>C
14g.21393635C>TCA388880289CHD8c.5323G>A (p.Val1775Ile)
c.3860G>A
c.6160G>A (p.Val2054Ile)
n.5316G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393636C>ACA484995076CHD8c.5322G>T (p.Leu1774=)
c.3859G>T
c.6159G>T (p.Leu2053=)
n.5315G>T
14g.21393636C=CA2122506109CHD8c.5322G= (p.Leu1774=)
c.3859G=
c.6159G= (p.Leu2053=)
n.5315G=
14g.21393636C>GCA484995077CHD8c.5322G>C (p.Leu1774=)
c.3859G>C
c.6159G>C (p.Leu2053=)
n.5315G>C
14g.21393636C>TCA484995078CHD8c.5322G>A (p.Leu1774=)
c.3859G>A
c.6159G>A (p.Leu2053=)
n.5315G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393637A>CCA388880290CHD8c.5321T>G (p.Leu1774Arg)
c.3858T>G
c.6158T>G (p.Leu2053Arg)
n.5314T>G
14g.21393637A>GCA388880291CHD8c.5321T>C (p.Leu1774Pro)
c.3858T>C
c.6158T>C (p.Leu2053Pro)
n.5314T>C
14g.21393637A>TCA388880292CHD8c.5321T>A (p.Leu1774Gln)
c.3858T>A
c.6158T>A (p.Leu2053Gln)
n.5314T>A
14g.21393637dupCA2575477107CHD8c.5321dup (p.Val1775GlyfsTer13)
c.3858dup
c.6158dup (p.Val2054GlyfsTer13)
n.5314dup
14g.21393638G>ACA484995080CHD8c.5320C>T (p.Leu1774=)
c.3857C>T
c.6157C>T (p.Leu2053=)
n.5313C>T
14g.21393638G>CCA257593060CHD8c.5320C>G (p.Leu1774Val)
c.3857C>G
c.6157C>G (p.Leu2053Val)
n.5313C>G
 dbSNP
14g.21393638G=CA2122506111CHD8c.5320C= (p.Leu1774=)
c.3857C=
c.6157C= (p.Leu2053=)
n.5313C=
14g.21393638G>TCA388880293CHD8c.5320C>A (p.Leu1774Met)
c.3857C>A
c.6157C>A (p.Leu2053Met)
n.5313C>A
14g.21393639A>CCA484995081CHD8c.5319T>G (p.Pro1773=)
c.3856T>G
c.6156T>G (p.Pro2052=)
n.5312T>G
14g.21393639A>GCA484995082CHD8c.5319T>C (p.Pro1773=)
c.3856T>C
c.6156T>C (p.Pro2052=)
n.5312T>C
14g.21393639A>TCA484995083CHD8c.5319T>A (p.Pro1773=)
c.3856T>A
c.6156T>A (p.Pro2052=)
n.5312T>A
14g.21393640G>ACA388880296CHD8c.5318C>T (p.Pro1773Leu)
c.3855C>T
c.6155C>T (p.Pro2052Leu)
n.5311C>T
14g.21393640G>CCA388880295CHD8c.5318C>G (p.Pro1773Arg)
c.3855C>G
c.6155C>G (p.Pro2052Arg)
n.5311C>G
 gnomAD v4
14g.21393640G>TCA388880294CHD8c.5318C>A (p.Pro1773His)
c.3855C>A
c.6155C>A (p.Pro2052His)
n.5311C>A
14g.21393641G>ACA388880297CHD8c.5317C>T (p.Pro1773Ser)
c.3854C>T
c.6154C>T (p.Pro2052Ser)
n.5310C>T
14g.21393641G>CCA388880298CHD8c.5317C>G (p.Pro1773Ala)
c.3854C>G
c.6154C>G (p.Pro2052Ala)
n.5310C>G
14g.21393641G>TCA388880299CHD8c.5317C>A (p.Pro1773Thr)
c.3854C>A
c.6154C>A (p.Pro2052Thr)
n.5310C>A
14g.21393642G>ACA484995084CHD8c.5316C>T (p.Thr1772=)
c.3853C>T
c.6153C>T (p.Thr2051=)
n.5309C>T
14g.21393642G>CCA484995085CHD8c.5316C>G (p.Thr1772=)
c.3853C>G
c.6153C>G (p.Thr2051=)
n.5309C>G
14g.21393642G>TCA484995086CHD8c.5316C>A (p.Thr1772=)
c.3853C>A
c.6153C>A (p.Thr2051=)
n.5309C>A
14g.21393643G>ACA388880300CHD8c.5315C>T (p.Thr1772Ile)
c.3852C>T
c.6152C>T (p.Thr2051Ile)
n.5308C>T
14g.21393643G>CCA7090831CHD8c.5315C>G (p.Thr1772Ser)
c.3852C>G
c.6152C>G (p.Thr2051Ser)
n.5308C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393643G=CA2122506114CHD8c.5315C= (p.Thr1772=)
c.3852C=
c.6152C= (p.Thr2051=)
n.5308C=
14g.21393643G>TCA388880301CHD8c.5315C>A (p.Thr1772Asn)
c.3852C>A
c.6152C>A (p.Thr2051Asn)
n.5308C>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393644T>ACA388880302CHD8c.5314A>T (p.Thr1772Ser)
c.3851A>T
c.6151A>T (p.Thr2051Ser)
n.5307A>T
14g.21393644T>CCA388880303CHD8c.5314A>G (p.Thr1772Ala)
c.3851A>G
c.6151A>G (p.Thr2051Ala)
n.5307A>G
14g.21393644T>GCA388880304CHD8c.5314A>C (p.Thr1772Pro)
c.3851A>C
c.6151A>C (p.Thr2051Pro)
n.5307A>C
14g.21393645A>CCA484995091CHD8c.5313T>G (p.Thr1771=)
c.3850T>G
c.6150T>G (p.Thr2050=)
n.5306T>G
14g.21393645A>GCA484995089CHD8c.5313T>C (p.Thr1771=)
c.3850T>C
c.6150T>C (p.Thr2050=)
n.5306T>C
14g.21393645A>TCA484995090CHD8c.5313T>A (p.Thr1771=)
c.3850T>A
c.6150T>A (p.Thr2050=)
n.5306T>A
14g.21393646G>ACA388880305CHD8c.5312C>T (p.Thr1771Ile)
c.3849C>T
c.6149C>T (p.Thr2050Ile)
n.5305C>T
14g.21393646G>CCA388880306CHD8c.5312C>G (p.Thr1771Ser)
c.3849C>G
c.6149C>G (p.Thr2050Ser)
n.5305C>G
 ClinVar dbSNP gnomAD v4
14g.21393646G>TCA388880307CHD8c.5312C>A (p.Thr1771Asn)
c.3849C>A
c.6149C>A (p.Thr2050Asn)
n.5305C>A
14g.21393647T>ACA388880310CHD8c.5311A>T (p.Thr1771Ser)
c.3848A>T
c.6148A>T (p.Thr2050Ser)
n.5304A>T
14g.21393647T>CCA388880309CHD8c.5311A>G (p.Thr1771Ala)
c.3848A>G
c.6148A>G (p.Thr2050Ala)
n.5304A>G
 dbSNP
14g.21393647T>GCA388880308CHD8c.5311A>C (p.Thr1771Pro)
c.3848A>C
c.6148A>C (p.Thr2050Pro)
n.5304A>C
 gnomAD v4
14g.21393647T=CA2122506116CHD8c.5311A= (p.Thr1771=)
c.3848A=
c.6148A= (p.Thr2050=)
n.5304A=
14g.21393647dupCA658770506CHD8c.5311dup (p.Thr1771AsnfsTer17)
c.3848dup
c.6148dup (p.Thr2050AsnfsTer17)
n.5304dup
14g.21393648A>CCA388880311CHD8c.5310T>G (p.Asp1770Glu)
c.3847T>G
c.6147T>G (p.Asp2049Glu)
n.5303T>G
14g.21393648A>GCA484995093CHD8c.5310T>C (p.Asp1770=)
c.3847T>C
c.6147T>C (p.Asp2049=)
n.5303T>C
14g.21393648A>TCA388880312CHD8c.5310T>A (p.Asp1770Glu)
c.3847T>A
c.6147T>A (p.Asp2049Glu)
n.5303T>A
14g.21393649T>ACA388880313CHD8c.5309A>T (p.Asp1770Val)
c.3846A>T
c.6146A>T (p.Asp2049Val)
n.5302A>T
14g.21393649T>CCA388880314CHD8c.5309A>G (p.Asp1770Gly)
c.3846A>G
c.6146A>G (p.Asp2049Gly)
n.5302A>G
 gnomAD v4
14g.21393649T>GCA388880315CHD8c.5309A>C (p.Asp1770Ala)
c.3846A>C
c.6146A>C (p.Asp2049Ala)
n.5302A>C
14g.21393650C>ACA388880316CHD8c.5308G>T (p.Asp1770Tyr)
c.3845G>T
c.6145G>T (p.Asp2049Tyr)
n.5301G>T
14g.21393650C>GCA388880317CHD8c.5308G>C (p.Asp1770His)
c.3845G>C
c.6145G>C (p.Asp2049His)
n.5301G>C
14g.21393650C>TCA388880318CHD8c.5308G>A (p.Asp1770Asn)
c.3845G>A
c.6145G>A (p.Asp2049Asn)
n.5301G>A
 gnomAD v4
14g.21393651A>CCA484995095CHD8c.5307T>G (p.Ser1769=)
c.3844T>G
c.6144T>G (p.Ser2048=)
n.5300T>G
14g.21393651A>GCA484995096CHD8c.5307T>C (p.Ser1769=)
c.3844T>C
c.6144T>C (p.Ser2048=)
n.5300T>C
14g.21393651A>TCA484995097CHD8c.5307T>A (p.Ser1769=)
c.3844T>A
c.6144T>A (p.Ser2048=)
n.5300T>A
14g.21393652G>ACA388880319CHD8c.5306C>T (p.Ser1769Phe)
c.3843C>T
c.6143C>T (p.Ser2048Phe)
n.5299C>T
14g.21393652G>CCA257593063CHD8c.5306C>G (p.Ser1769Cys)
c.3843C>G
c.6143C>G (p.Ser2048Cys)
n.5299C>G
 dbSNP gnomAD v2 gnomAD v4
14g.21393652G=CA2122506117CHD8c.5306C= (p.Ser1769=)
c.3843C=
c.6143C= (p.Ser2048=)
n.5299C=
14g.21393652G>TCA388880320CHD8c.5306C>A (p.Ser1769Tyr)
c.3843C>A
c.6143C>A (p.Ser2048Tyr)
n.5299C>A
14g.21393653A>CCA388880321CHD8c.5305T>G (p.Ser1769Ala)
c.3842T>G
c.6142T>G (p.Ser2048Ala)
n.5298T>G
14g.21393653A>GCA388880322CHD8c.5305T>C (p.Ser1769Pro)
c.3842T>C
c.6142T>C (p.Ser2048Pro)
n.5298T>C
14g.21393653A>TCA388880323CHD8c.5305T>A (p.Ser1769Thr)
c.3842T>A
c.6142T>A (p.Ser2048Thr)
n.5298T>A
14g.21393654G>ACA7090832CHD8c.5304C>T (p.Pro1768=)
c.3841C>T
c.6141C>T (p.Pro2047=)
n.5297C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393654G>CCA257593074CHD8c.5304C>G (p.Pro1768=)
c.3841C>G
c.6141C>G (p.Pro2047=)
n.5297C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393654G=CA2122506120CHD8c.5304C= (p.Pro1768=)
c.3841C=
c.6141C= (p.Pro2047=)
n.5297C=
14g.21393654G>TCA484995099CHD8c.5304C>A (p.Pro1768=)
c.3841C>A
c.6141C>A (p.Pro2047=)
n.5297C>A
14g.21393658delCA645571678CHD8c.5304del (p.Ser1769LeufsTer28)
c.3841del
c.6141del (p.Ser2048LeufsTer28)
n.5297del
 COSMIC COSMIC
14g.21393655G>ACA388880324CHD8c.5303C>T (p.Pro1768Leu)
c.3840C>T
c.6140C>T (p.Pro2047Leu)
n.5296C>T
 dbSNP gnomAD v2 gnomAD v4
14g.21393655G>CCA388880326CHD8c.5303C>G (p.Pro1768Arg)
c.3840C>G
c.6140C>G (p.Pro2047Arg)
n.5296C>G
 gnomAD v4
14g.21393655G=CA2122506122CHD8c.5303C= (p.Pro1768=)
c.3840C=
c.6140C= (p.Pro2047=)
n.5296C=
14g.21393655G>TCA388880325CHD8c.5303C>A (p.Pro1768His)
c.3840C>A
c.6140C>A (p.Pro2047His)
n.5296C>A
14g.21393656G>ACA388880327CHD8c.5302C>T (p.Pro1768Ser)
c.3839C>T
c.6139C>T (p.Pro2047Ser)
n.5295C>T
 dbSNP gnomAD v3 gnomAD v4
14g.21393656G>CCA388880328CHD8c.5302C>G (p.Pro1768Ala)
c.3839C>G
c.6139C>G (p.Pro2047Ala)
n.5295C>G
14g.21393656G=CA2122506124CHD8c.5302C= (p.Pro1768=)
c.3839C=
c.6139C= (p.Pro2047=)
n.5295C=
14g.21393656G>TCA388880329CHD8c.5302C>A (p.Pro1768Thr)
c.3839C>A
c.6139C>A (p.Pro2047Thr)
n.5295C>A
14g.21393657G>ACA484995102CHD8c.5301C>T (p.Ser1767=)
c.3838C>T
c.6138C>T (p.Ser2046=)
n.5294C>T
14g.21393657G>CCA484995103CHD8c.5301C>G (p.Ser1767=)
c.3838C>G
c.6138C>G (p.Ser2046=)
n.5294C>G
14g.21393657G>TCA484995104CHD8c.5301C>A (p.Ser1767=)
c.3838C>A
c.6138C>A (p.Ser2046=)
n.5294C>A
14g.21393658G>ACA7090833CHD8c.5300C>T (p.Ser1767Phe)
c.3837C>T
c.6137C>T (p.Ser2046Phe)
n.5293C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393658G>CCA388880330CHD8c.5300C>G (p.Ser1767Cys)
c.3837C>G
c.6137C>G (p.Ser2046Cys)
n.5293C>G
 dbSNP gnomAD v3 gnomAD v4
14g.21393658G=CA2122506125CHD8c.5300C= (p.Ser1767=)
c.3837C=
c.6137C= (p.Ser2046=)
n.5293C=
14g.21393658G>TCA388880331CHD8c.5300C>A (p.Ser1767Tyr)
c.3837C>A
c.6137C>A (p.Ser2046Tyr)
n.5293C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.21393659A>CCA388880332CHD8c.5299T>G (p.Ser1767Ala)
c.3836T>G
c.6136T>G (p.Ser2046Ala)
n.5292T>G
14g.21393659A>GCA388880333CHD8c.5299T>C (p.Ser1767Pro)
c.3836T>C
c.6136T>C (p.Ser2046Pro)
n.5292T>C
14g.21393659A>TCA388880334CHD8c.5299T>A (p.Ser1767Thr)
c.3836T>A
c.6136T>A (p.Ser2046Thr)
n.5292T>A
14g.21393660T>ACA484995105CHD8c.5298A>T (p.Val1766=)
c.3835A>T
c.6135A>T (p.Val2045=)
n.5291A>T
14g.21393660T>CCA484995106CHD8c.5298A>G (p.Val1766=)
c.3835A>G
c.6135A>G (p.Val2045=)
n.5291A>G
 COSMIC COSMIC
14g.21393660T>GCA484995107CHD8c.5298A>C (p.Val1766=)
c.3835A>C
c.6135A>C (p.Val2045=)
n.5291A>C
14g.21393661A>CCA388880335CHD8c.5297T>G (p.Val1766Gly)
c.3834T>G
c.6134T>G (p.Val2045Gly)
n.5290T>G
14g.21393661A>GCA388880336CHD8c.5297T>C (p.Val1766Ala)
c.3834T>C
c.6134T>C (p.Val2045Ala)
n.5290T>C
14g.21393661A>TCA388880337CHD8c.5297T>A (p.Val1766Glu)
c.3834T>A
c.6134T>A (p.Val2045Glu)
n.5290T>A
14g.21393662C>ACA388880338CHD8c.5296G>T (p.Val1766Leu)
c.3833G>T
c.6133G>T (p.Val2045Leu)
n.5289G>T
14g.21393662C=CA2122506127CHD8c.5296G= (p.Val1766=)
c.3833G=
c.6133G= (p.Val2045=)
n.5289G=
14g.21393662C>GCA388880339CHD8c.5296G>C (p.Val1766Leu)
c.3833G>C
c.6133G>C (p.Val2045Leu)
n.5289G>C
14g.21393662C>TCA7090834CHD8c.5296G>A (p.Val1766Ile)
c.3833G>A
c.6133G>A (p.Val2045Ile)
n.5289G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393663T>ACA484995109CHD8c.5295A>T (p.Arg1765=)
c.3832A>T
c.6132A>T (p.Arg2044=)
n.5288A>T
14g.21393663T>CCA484995110CHD8c.5295A>G (p.Arg1765=)
c.3832A>G
c.6132A>G (p.Arg2044=)
n.5288A>G
14g.21393663T>GCA484995111CHD8c.5295A>C (p.Arg1765=)
c.3832A>C
c.6132A>C (p.Arg2044=)
n.5288A>C
14g.21393664C>ACA388880340CHD8c.5294G>T (p.Arg1765Leu)
c.3831G>T
c.6131G>T (p.Arg2044Leu)
n.5287G>T
14g.21393664C=CA2122506131CHD8c.5294G= (p.Arg1765=)
c.3831G=
c.6131G= (p.Arg2044=)
n.5287G=
14g.21393664C>GCA388880341CHD8c.5294G>C (p.Arg1765Pro)
c.3831G>C
c.6131G>C (p.Arg2044Pro)
n.5287G>C
14g.21393664C>TCA7090835CHD8c.5294G>A (p.Arg1765Gln)
c.3831G>A
c.6131G>A (p.Arg2044Gln)
n.5287G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393665G>ACA388880342CHD8c.5293C>T (p.Arg1765Ter)
c.3830C>T
c.6130C>T (p.Arg2044Ter)
n.5286C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
14g.21393665G>CCA7090836CHD8c.5293C>G (p.Arg1765Gly)
c.3830C>G
c.6130C>G (p.Arg2044Gly)
n.5286C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393665G=CA2122506133CHD8c.5293C= (p.Arg1765=)
c.3830C=
c.6130C= (p.Arg2044=)
n.5286C=
14g.21393665G>TCA484995115CHD8c.5293C>A (p.Arg1765=)
c.3830C>A
c.6130C>A (p.Arg2044=)
n.5286C>A
14g.21393666C>ACA388880343CHD8c.5292G>T (p.Met1764Ile)
c.3829G>T
c.6129G>T (p.Met2043Ile)
n.5285G>T
14g.21393666C>GCA388880344CHD8c.5292G>C (p.Met1764Ile)
c.3829G>C
c.6129G>C (p.Met2043Ile)
n.5285G>C
14g.21393666C>TCA388880345CHD8c.5292G>A (p.Met1764Ile)
c.3829G>A
c.6129G>A (p.Met2043Ile)
n.5285G>A
14g.21393667A>CCA388880346CHD8c.5291T>G (p.Met1764Arg)
c.3828T>G
c.6128T>G (p.Met2043Arg)
n.5284T>G
14g.21393667A>GCA388880347CHD8c.5291T>C (p.Met1764Thr)
c.3828T>C
c.6128T>C (p.Met2043Thr)
n.5284T>C
14g.21393667A>TCA388880348CHD8c.5291T>A (p.Met1764Lys)
c.3828T>A
c.6128T>A (p.Met2043Lys)
n.5284T>A
 gnomAD v4
14g.21393668T>ACA388880351CHD8c.5290A>T (p.Met1764Leu)
c.3827A>T
c.6127A>T (p.Met2043Leu)
n.5283A>T
 gnomAD v4
14g.21393668T>CCA388880350CHD8c.5290A>G (p.Met1764Val)
c.3827A>G
c.6127A>G (p.Met2043Val)
n.5283A>G
14g.21393668T>GCA388880349CHD8c.5290A>C (p.Met1764Leu)
c.3827A>C
c.6127A>C (p.Met2043Leu)
n.5283A>C
14g.21393669C>ACA388880352CHD8c.5289G>T (p.Glu1763Asp)
c.3826G>T
c.6126G>T (p.Glu2042Asp)
n.5282G>T
14g.21393669C>GCA388880353CHD8c.5289G>C (p.Glu1763Asp)
c.3826G>C
c.6126G>C (p.Glu2042Asp)
n.5282G>C
14g.21393669C>TCA484995118CHD8c.5289G>A (p.Glu1763=)
c.3826G>A
c.6126G>A (p.Glu2042=)
n.5282G>A
 gnomAD v4 COSMIC COSMIC
14g.21393670T>ACA388880354CHD8c.5288A>T (p.Glu1763Val)
c.3825A>T
c.6125A>T (p.Glu2042Val)
n.5281A>T
14g.21393670T>CCA388880355CHD8c.5288A>G (p.Glu1763Gly)
c.3825A>G
c.6125A>G (p.Glu2042Gly)
n.5281A>G
14g.21393670T>GCA388880356CHD8c.5288A>C (p.Glu1763Ala)
c.3825A>C
c.6125A>C (p.Glu2042Ala)
n.5281A>C
14g.21393671C>ACA388880357CHD8c.5287G>T (p.Glu1763Ter)
c.3824G>T
c.6124G>T (p.Glu2042Ter)
n.5280G>T
n.918G>T
 dbSNP
14g.21393671C=CA2122506135CHD8c.5287G= (p.Glu1763=)
c.3824G=
c.6124G= (p.Glu2042=)
n.5280G=
n.918G=
14g.21393671C>GCA388880358CHD8c.5287G>C (p.Glu1763Gln)
c.3824G>C
c.6124G>C (p.Glu2042Gln)
n.5280G>C
n.918G>C
14g.21393671C>TCA388880359CHD8c.5287G>A (p.Glu1763Lys)
c.3824G>A
c.6124G>A (p.Glu2042Lys)
n.5280G>A
n.918G>A
14g.21393672A>CCA388880360CHD8c.5286T>G (p.Tyr1762Ter)
c.3823T>G
c.6123T>G (p.Tyr2041Ter)
n.5279T>G
n.917T>G
 gnomAD v4
14g.21393672A>GCA484995121CHD8c.5286T>C (p.Tyr1762=)
c.3823T>C
c.6123T>C (p.Tyr2041=)
n.5279T>C
n.917T>C
14g.21393672A>TCA388880361CHD8c.5286T>A (p.Tyr1762Ter)
c.3823T>A
c.6123T>A (p.Tyr2041Ter)
n.5279T>A
n.917T>A
14g.21393673_21393674delCA2695219072CHD8c.5285_5286del (p.Tyr1762Ter)
c.3822_3823del
c.6122_6123del (p.Tyr2041Ter)
n.5278_5279del
n.916_917del
14g.21393673T>ACA388880362CHD8c.5285A>T (p.Tyr1762Phe)
c.3822A>T
c.6122A>T (p.Tyr2041Phe)
n.5278A>T
n.916A>T
 gnomAD v4
14g.21393673T>CCA388880363CHD8c.5285A>G (p.Tyr1762Cys)
c.3822A>G
c.6122A>G (p.Tyr2041Cys)
n.5278A>G
n.916A>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
14g.21393673T>GCA388880364CHD8c.5285A>C (p.Tyr1762Ser)
c.3822A>C
c.6122A>C (p.Tyr2041Ser)
n.5278A>C
n.916A>C
 gnomAD v4
14g.21393673T=CA2122506137CHD8c.5285A= (p.Tyr1762=)
c.3822A=
c.6122A= (p.Tyr2041=)
n.5278A=
n.916A=
14g.21393674A=CA2122506139CHD8c.5284T= (p.Tyr1762=)
c.3821T=
c.6121T= (p.Tyr2041=)
n.5277T=
n.915T=
14g.21393674A>CCA388880366CHD8c.5284T>G (p.Tyr1762Asp)
c.3821T>G
c.6121T>G (p.Tyr2041Asp)
n.5277T>G
n.915T>G
14g.21393674A>GCA388880367CHD8c.5284T>C (p.Tyr1762His)
c.3821T>C
c.6121T>C (p.Tyr2041His)
n.5277T>C
n.915T>C
 dbSNP gnomAD v4
14g.21393674A>TCA388880365CHD8c.5284T>A (p.Tyr1762Asn)
c.3821T>A
c.6121T>A (p.Tyr2041Asn)
n.5277T>A
n.915T>A
 gnomAD v4
14g.21393675G>ACA484995124CHD8c.5283C>T (p.Asp1761=)
c.3820C>T
c.6120C>T (p.Asp2040=)
n.5276C>T
n.914C>T
 dbSNP
14g.21393675G>CCA388880368CHD8c.5283C>G (p.Asp1761Glu)
c.3820C>G
c.6120C>G (p.Asp2040Glu)
n.5276C>G
n.914C>G
 gnomAD v4
14g.21393675G=CA2122506141CHD8c.5283C= (p.Asp1761=)
c.3820C=
c.6120C= (p.Asp2040=)
n.5276C=
n.914C=
14g.21393675G>TCA388880369CHD8c.5283C>A (p.Asp1761Glu)
c.3820C>A
c.6120C>A (p.Asp2040Glu)
n.5276C>A
n.914C>A
14g.21393676T>ACA388880370CHD8c.5282A>T (p.Asp1761Val)
c.3819A>T
c.6119A>T (p.Asp2040Val)
n.5275A>T
n.913A>T
14g.21393676T>CCA202496CHD8c.5282A>G (p.Asp1761Gly)
c.3819A>G
c.6119A>G (p.Asp2040Gly)
n.5275A>G
n.913A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.21393676T>GCA388880371CHD8c.5282A>C (p.Asp1761Ala)
c.3819A>C
c.6119A>C (p.Asp2040Ala)
n.5275A>C
n.913A>C
14g.21393676T=CA2122506144CHD8c.5282A= (p.Asp1761=)
c.3819A=
c.6119A= (p.Asp2040=)
n.5275A=
n.913A=
14g.21393677C>ACA388880372CHD8c.5281G>T (p.Asp1761Tyr)
c.3818G>T
c.6118G>T (p.Asp2040Tyr)
n.5274G>T
n.912G>T
14g.21393677C=CA2122506147CHD8c.5281G= (p.Asp1761=)
c.3818G=
c.6118G= (p.Asp2040=)
n.5274G=
n.912G=
14g.21393677C>GCA388880373CHD8c.5281G>C (p.Asp1761His)
c.3818G>C
c.6118G>C (p.Asp2040His)
n.5274G>C
n.912G>C
14g.21393677C>TCA7090837CHD8c.5281G>A (p.Asp1761Asn)
c.3818G>A
c.6118G>A (p.Asp2040Asn)
n.5274G>A
n.912G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393678T>ACA388880374CHD8c.5280A>T (p.Gln1760His)
c.3817A>T
c.6117A>T (p.Gln2039His)
n.5273A>T
n.911A>T
14g.21393678T>CCA484995132CHD8c.5280A>G (p.Gln1760=)
c.3817A>G
c.6117A>G (p.Gln2039=)
n.5273A>G
n.911A>G
14g.21393678T>GCA388880375CHD8c.5280A>C (p.Gln1760His)
c.3817A>C
c.6117A>C (p.Gln2039His)
n.5273A>C
n.911A>C
14g.21393679T>ACA7090838CHD8c.5279A>T (p.Gln1760Leu)
c.3816A>T
c.6116A>T (p.Gln2039Leu)
n.5272A>T
n.910A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.21393679T>CCA388880376CHD8c.5279A>G (p.Gln1760Arg)
c.3816A>G
c.6116A>G (p.Gln2039Arg)
n.5272A>G
n.910A>G
 gnomAD v4
14g.21393679T>GCA388880377CHD8c.5279A>C (p.Gln1760Pro)
c.3816A>C
c.6116A>C (p.Gln2039Pro)
n.5272A>C
n.910A>C
14g.21393679T=CA2122506149CHD8c.5279A= (p.Gln1760=)
c.3816A=
c.6116A= (p.Gln2039=)
n.5272A=
n.910A=
14g.21393680delCA2695219073CHD8c.5278del (p.Gln1760LysfsTer?)
c.3815del
c.6115del (p.Gln2039LysfsTer?)
n.5271del
n.909del
14g.21393680G>ACA388880380CHD8c.5278C>T (p.Gln1760Ter)
c.3815C>T
c.6115C>T (p.Gln2039Ter)
n.5271C>T
n.909C>T
 dbSNP COSMIC COSMIC
14g.21393680G>CCA388880379CHD8c.5278C>G (p.Gln1760Glu)
c.3815C>G
c.6115C>G (p.Gln2039Glu)
n.5271C>G
n.909C>G
14g.21393680G=CA2122506151CHD8c.5278C= (p.Gln1760=)
c.3815C=
c.6115C= (p.Gln2039=)
n.5271C=
n.909C=
14g.21393680G>TCA388880378CHD8c.5278C>A (p.Gln1760Lys)
c.3815C>A
c.6115C>A (p.Gln2039Lys)
n.5271C>A
n.909C>A

Number of alleles fetched