Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.21393512_21393518delinsTGCTGGACA2122505982CHD8c.5440_5446delinsTCCAGCA (p.Ser1814=)
c.3977_3983delinsTCCAGCA
c.6277_6283delinsTCCAGCA (p.Ser2093=)
n.5433_5439delinsTCCAGCA
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.21393514C>ACA388879880CHD8c.5444G>T (p.Ser1815Ile)
c.3981G>T
c.6281G>T (p.Ser2094Ile)
n.5437G>T
14g.21393514C=CA2122505991CHD8c.5444G= (p.Ser1815=)
c.3981G=
c.6281G= (p.Ser2094=)
n.5437G=
14g.21393514C>GCA388879882CHD8c.5444G>C (p.Ser1815Thr)
c.3981G>C
c.6281G>C (p.Ser2094Thr)
n.5437G>C
14g.21393514C>TCA388879884CHD8c.5444G>A (p.Ser1815Asn)
c.3981G>A
c.6281G>A (p.Ser2094Asn)
n.5437G>A
 dbSNP gnomAD v2 gnomAD v4
14g.21393515T>ACA388879887CHD8c.5443A>T (p.Ser1815Cys)
c.3980A>T
c.6280A>T (p.Ser2094Cys)
n.5436A>T
14g.21393515T>CCA388879888CHD8c.5443A>G (p.Ser1815Gly)
c.3980A>G
c.6280A>G (p.Ser2094Gly)
n.5436A>G
 gnomAD v4
14g.21393515T>GCA388879889CHD8c.5443A>C (p.Ser1815Arg)
c.3980A>C
c.6280A>C (p.Ser2094Arg)
n.5436A>C
14g.21393516G>ACA484994752CHD8c.5442C>T (p.Ser1814=)
c.3979C>T
c.6279C>T (p.Ser2093=)
n.5435C>T
 dbSNP gnomAD v2 gnomAD v4
14g.21393516G>CCA484994754CHD8c.5442C>G (p.Ser1814=)
c.3979C>G
c.6279C>G (p.Ser2093=)
n.5435C>G
14g.21393516G=CA2122505993CHD8c.5442C= (p.Ser1814=)
c.3979C=
c.6279C= (p.Ser2093=)
n.5435C=
14g.21393516G>TCA484994753CHD8c.5442C>A (p.Ser1814=)
c.3979C>A
c.6279C>A (p.Ser2093=)
n.5435C>A
14g.21393517G>ACA388879895CHD8c.5441C>T (p.Ser1814Phe)
c.3978C>T
c.6278C>T (p.Ser2093Phe)
n.5434C>T
 gnomAD v4
14g.21393517G>CCA388879891CHD8c.5441C>G (p.Ser1814Cys)
c.3978C>G
c.6278C>G (p.Ser2093Cys)
n.5434C>G
 dbSNP gnomAD v4
14g.21393517G=CA2122505996CHD8c.5441C= (p.Ser1814=)
c.3978C=
c.6278C= (p.Ser2093=)
n.5434C=
14g.21393517G>TCA388879893CHD8c.5441C>A (p.Ser1814Tyr)
c.3978C>A
c.6278C>A (p.Ser2093Tyr)
n.5434C>A
14g.21393518A=CA2122505999CHD8c.5440T= (p.Ser1814=)
c.3977T=
c.6277T= (p.Ser2093=)
n.5433T=
14g.21393518A>CCA388879897CHD8c.5440T>G (p.Ser1814Ala)
c.3977T>G
c.6277T>G (p.Ser2093Ala)
n.5433T>G
14g.21393518A>GCA388879899CHD8c.5440T>C (p.Ser1814Pro)
c.3977T>C
c.6277T>C (p.Ser2093Pro)
n.5433T>C
 dbSNP gnomAD v2
14g.21393518A>TCA388879901CHD8c.5440T>A (p.Ser1814Thr)
c.3977T>A
c.6277T>A (p.Ser2093Thr)
n.5433T>A
14g.21393519G>ACA484994759CHD8c.5439C>T (p.Ser1813=)
c.3976C>T
c.6276C>T (p.Ser2092=)
n.5432C>T
14g.21393519G>CCA388879903CHD8c.5439C>G (p.Ser1813Arg)
c.3976C>G
c.6276C>G (p.Ser2092Arg)
n.5432C>G
14g.21393519G>TCA388879905CHD8c.5439C>A (p.Ser1813Arg)
c.3976C>A
c.6276C>A (p.Ser2092Arg)
n.5432C>A
14g.21393520C>ACA388879924CHD8c.5438G>T (p.Ser1813Ile)
c.3975G>T
c.6275G>T (p.Ser2092Ile)
n.5431G>T
14g.21393520C>GCA388879925CHD8c.5438G>C (p.Ser1813Thr)
c.3975G>C
c.6275G>C (p.Ser2092Thr)
n.5431G>C
14g.21393520C>TCA388879928CHD8c.5438G>A (p.Ser1813Asn)
c.3975G>A
c.6275G>A (p.Ser2092Asn)
n.5431G>A
14g.21393521T>ACA388879931CHD8c.5437A>T (p.Ser1813Cys)
c.3974A>T
c.6274A>T (p.Ser2092Cys)
n.5430A>T
14g.21393521T>CCA388879933CHD8c.5437A>G (p.Ser1813Gly)
c.3974A>G
c.6274A>G (p.Ser2092Gly)
n.5430A>G
14g.21393521T>GCA388879935CHD8c.5437A>C (p.Ser1813Arg)
c.3974A>C
c.6274A>C (p.Ser2092Arg)
n.5430A>C
14g.21393522G>ACA484994765CHD8c.5436C>T (p.Ser1812=)
c.3973C>T
c.6273C>T (p.Ser2091=)
n.5429C>T
 gnomAD v4
14g.21393522G>CCA484994767CHD8c.5436C>G (p.Ser1812=)
c.3973C>G
c.6273C>G (p.Ser2091=)
n.5429C>G
14g.21393522G>TCA484994768CHD8c.5436C>A (p.Ser1812=)
c.3973C>A
c.6273C>A (p.Ser2091=)
n.5429C>A
 gnomAD v4
14g.21393523G>ACA388879938CHD8c.5435C>T (p.Ser1812Phe)
c.3972C>T
c.6272C>T (p.Ser2091Phe)
n.5428C>T
14g.21393523G>CCA388879937CHD8c.5435C>G (p.Ser1812Cys)
c.3972C>G
c.6272C>G (p.Ser2091Cys)
n.5428C>G
14g.21393523G>TCA388879936CHD8c.5435C>A (p.Ser1812Tyr)
c.3972C>A
c.6272C>A (p.Ser2091Tyr)
n.5428C>A
 gnomAD v4
14g.21393524A>CCA388879940CHD8c.5434T>G (p.Ser1812Ala)
c.3971T>G
c.6271T>G (p.Ser2091Ala)
n.5427T>G
14g.21393524A>GCA388879941CHD8c.5434T>C (p.Ser1812Pro)
c.3971T>C
c.6271T>C (p.Ser2091Pro)
n.5427T>C
14g.21393524A>TCA388879943CHD8c.5434T>A (p.Ser1812Thr)
c.3971T>A
c.6271T>A (p.Ser2091Thr)
n.5427T>A
14g.21393525delCA2695219071CHD8c.5433del (p.Ser1812ProfsTer16)
c.3970del
c.6270del (p.Ser2091ProfsTer16)
n.5426del
14g.21393525G>ACA484994774CHD8c.5433C>T (p.Ser1811=)
c.3970C>T
c.6270C>T (p.Ser2090=)
n.5426C>T
14g.21393525G>CCA388879947CHD8c.5433C>G (p.Ser1811Arg)
c.3970C>G
c.6270C>G (p.Ser2090Arg)
n.5426C>G
14g.21393525G>TCA388879948CHD8c.5433C>A (p.Ser1811Arg)
c.3970C>A
c.6270C>A (p.Ser2090Arg)
n.5426C>A
 gnomAD v4
14g.21393525_21393526delCA2624078743CHD8c.5432_5433del (p.Ser1811IlefsTer6)
c.3969_3970del
c.6269_6270del (p.Ser2090IlefsTer6)
n.5425_5426del
 gnomAD v4
14g.21393526C>ACA388879949CHD8c.5432G>T (p.Ser1811Ile)
c.3969G>T
c.6269G>T (p.Ser2090Ile)
n.5425G>T
14g.21393526C=CA2122506001CHD8c.5432G= (p.Ser1811=)
c.3969G=
c.6269G= (p.Ser2090=)
n.5425G=
14g.21393526C>GCA257592867CHD8c.5432G>C (p.Ser1811Thr)
c.3969G>C
c.6269G>C (p.Ser2090Thr)
n.5425G>C
 dbSNP gnomAD v3 gnomAD v4
14g.21393526C>TCA388879950CHD8c.5432G>A (p.Ser1811Asn)
c.3969G>A
c.6269G>A (p.Ser2090Asn)
n.5425G>A
 ClinVar
14g.21393527T>ACA388879952CHD8c.5431A>T (p.Ser1811Cys)
c.3968A>T
c.6268A>T (p.Ser2090Cys)
n.5424A>T

Number of alleles fetched