Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.110719858T>ACA414226399CHRDL1c.518A>T (p.Asp173Val)
c.497A>T (p.Asp166Val)
c.515A>T (p.Asp172Val)
c.302-19137A>T (n.302-19137A>T)
n.626A>T
Xg.110719858T>CCA414226401CHRDL1c.518A>G (p.Asp173Gly)
c.497A>G (p.Asp166Gly)
c.515A>G (p.Asp172Gly)
c.302-19137A>G (n.302-19137A>G)
n.626A>G
Xg.110719858T>GCA414226403CHRDL1c.518A>C (p.Asp173Ala)
c.497A>C (p.Asp166Ala)
c.515A>C (p.Asp172Ala)
c.302-19137A>C (n.302-19137A>C)
n.626A>C
Xg.110719859C>ACA414226406CHRDL1c.517G>T (p.Asp173Tyr)
c.496G>T (p.Asp166Tyr)
c.514G>T (p.Asp172Tyr)
c.302-19138G>T (n.302-19138G>T)
n.625G>T
Xg.110719859C>GCA414226408CHRDL1c.517G>C (p.Asp173His)
c.496G>C (p.Asp166His)
c.514G>C (p.Asp172His)
c.302-19138G>C (n.302-19138G>C)
n.625G>C
Xg.110719859C>TCA414226411CHRDL1c.517G>A (p.Asp173Asn)
c.496G>A (p.Asp166Asn)
c.514G>A (p.Asp172Asn)
c.302-19138G>A (n.302-19138G>A)
n.625G>A
Xg.110719860T>ACA518021645CHRDL1c.516A>T (p.Pro172=)
c.495A>T (p.Pro165=)
c.513A>T (p.Pro171=)
c.302-19139A>T (n.302-19139A>T)
n.624A>T
Xg.110719860T>CCA518021647CHRDL1c.516A>G (p.Pro172=)
c.495A>G (p.Pro165=)
c.513A>G (p.Pro171=)
c.302-19139A>G (n.302-19139A>G)
n.624A>G
Xg.110719860T>GCA518021650CHRDL1c.516A>C (p.Pro172=)
c.495A>C (p.Pro165=)
c.513A>C (p.Pro171=)
c.302-19139A>C (n.302-19139A>C)
n.624A>C
Xg.110719861G>ACA414226418CHRDL1c.515C>T (p.Pro172Leu)
c.494C>T (p.Pro165Leu)
c.512C>T (p.Pro171Leu)
c.302-19140C>T (n.302-19140C>T)
n.623C>T
Xg.110719861G>CCA414226417CHRDL1c.515C>G (p.Pro172Arg)
c.494C>G (p.Pro165Arg)
c.512C>G (p.Pro171Arg)
c.302-19140C>G (n.302-19140C>G)
n.623C>G
Xg.110719861G>TCA414226415CHRDL1c.515C>A (p.Pro172Gln)
c.494C>A (p.Pro165Gln)
c.512C>A (p.Pro171Gln)
c.302-19140C>A (n.302-19140C>A)
n.623C>A
 gnomAD v4
Xg.110719862G>ACA414226421CHRDL1c.514C>T (p.Pro172Ser)
c.493C>T (p.Pro165Ser)
c.511C>T (p.Pro171Ser)
c.302-19141C>T (n.302-19141C>T)
n.622C>T
Xg.110719862G>CCA414226423CHRDL1c.514C>G (p.Pro172Ala)
c.493C>G (p.Pro165Ala)
c.511C>G (p.Pro171Ala)
c.302-19141C>G (n.302-19141C>G)
n.622C>G
Xg.110719862G>TCA414226425CHRDL1c.514C>A (p.Pro172Thr)
c.493C>A (p.Pro165Thr)
c.511C>A (p.Pro171Thr)
c.302-19141C>A (n.302-19141C>A)
n.622C>A
Xg.110719863A>CCA518021666CHRDL1c.513T>G (p.Val171=)
c.492T>G (p.Val164=)
c.510T>G (p.Val170=)
c.302-19142T>G (n.302-19142T>G)
n.621T>G
Xg.110719863A>GCA518021661CHRDL1c.513T>C (p.Val171=)
c.492T>C (p.Val164=)
c.510T>C (p.Val170=)
c.302-19142T>C (n.302-19142T>C)
n.621T>C
Xg.110719863A>TCA518021660CHRDL1c.513T>A (p.Val171=)
c.492T>A (p.Val164=)
c.510T>A (p.Val170=)
c.302-19142T>A (n.302-19142T>A)
n.621T>A
Xg.110719864A>CCA414226429CHRDL1c.512T>G (p.Val171Gly)
c.491T>G (p.Val164Gly)
c.509T>G (p.Val170Gly)
c.302-19143T>G (n.302-19143T>G)
n.620T>G
Xg.110719864A>GCA414226431CHRDL1c.512T>C (p.Val171Ala)
c.491T>C (p.Val164Ala)
c.509T>C (p.Val170Ala)
c.302-19143T>C (n.302-19143T>C)
n.620T>C
Xg.110719864A>TCA414226434CHRDL1c.512T>A (p.Val171Asp)
c.491T>A (p.Val164Asp)
c.509T>A (p.Val170Asp)
c.302-19143T>A (n.302-19143T>A)
n.620T>A
Xg.110719865C>ACA414226442CHRDL1c.511G>T (p.Val171Phe)
c.490G>T (p.Val164Phe)
c.508G>T (p.Val170Phe)
c.302-19144G>T (n.302-19144G>T)
n.619G>T
Xg.110719865C>GCA414226439CHRDL1c.511G>C (p.Val171Leu)
c.490G>C (p.Val164Leu)
c.508G>C (p.Val170Leu)
c.302-19144G>C (n.302-19144G>C)
n.619G>C
Xg.110719865C>TCA414226437CHRDL1c.511G>A (p.Val171Ile)
c.490G>A (p.Val164Ile)
c.508G>A (p.Val170Ile)
c.302-19144G>A (n.302-19144G>A)
n.619G>A
Xg.110719866A>CCA518021685CHRDL1c.510T>G (p.Ser170=)
c.489T>G (p.Ser163=)
c.507T>G (p.Ser169=)
c.302-19145T>G (n.302-19145T>G)
n.618T>G
Xg.110719866A>GCA518021683CHRDL1c.510T>C (p.Ser170=)
c.489T>C (p.Ser163=)
c.507T>C (p.Ser169=)
c.302-19145T>C (n.302-19145T>C)
n.618T>C
Xg.110719866A>TCA518021681CHRDL1c.510T>A (p.Ser170=)
c.489T>A (p.Ser163=)
c.507T>A (p.Ser169=)
c.302-19145T>A (n.302-19145T>A)
n.618T>A
Xg.110719867G>ACA414226446CHRDL1c.509C>T (p.Ser170Phe)
c.488C>T (p.Ser163Phe)
c.506C>T (p.Ser169Phe)
c.302-19146C>T (n.302-19146C>T)
n.617C>T
Xg.110719867G>CCA414226448CHRDL1c.509C>G (p.Ser170Cys)
c.488C>G (p.Ser163Cys)
c.506C>G (p.Ser169Cys)
c.302-19146C>G (n.302-19146C>G)
n.617C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.110719867G=CA2451467332CHRDL1c.509C= (p.Ser170=)
c.488C= (p.Ser163=)
c.506C= (p.Ser169=)
c.302-19146C= (n.302-19146C=)
n.617C=
Xg.110719867G>TCA414226450CHRDL1c.509C>A (p.Ser170Tyr)
c.488C>A (p.Ser163Tyr)
c.506C>A (p.Ser169Tyr)
c.302-19146C>A (n.302-19146C>A)
n.617C>A
Xg.110719868A=CA2451467333CHRDL1c.508T= (p.Ser170=)
c.487T= (p.Ser163=)
c.505T= (p.Ser169=)
c.302-19147T= (n.302-19147T=)
n.616T=
Xg.110719868A>CCA414226453CHRDL1c.508T>G (p.Ser170Ala)
c.487T>G (p.Ser163Ala)
c.505T>G (p.Ser169Ala)
c.302-19147T>G (n.302-19147T>G)
n.616T>G
Xg.110719868A>GCA414226455CHRDL1c.508T>C (p.Ser170Pro)
c.487T>C (p.Ser163Pro)
c.505T>C (p.Ser169Pro)
c.302-19147T>C (n.302-19147T>C)
n.616T>C
 dbSNP
Xg.110719868A>TCA414226457CHRDL1c.508T>A (p.Ser170Thr)
c.487T>A (p.Ser163Thr)
c.505T>A (p.Ser169Thr)
c.302-19147T>A (n.302-19147T>A)
n.616T>A
Xg.110719869G>ACA518021688CHRDL1c.507C>T (p.Val169=)
c.486C>T (p.Val162=)
c.504C>T (p.Val168=)
c.302-19148C>T (n.302-19148C>T)
n.615C>T
Xg.110719869G>CCA518021690CHRDL1c.507C>G (p.Val169=)
c.486C>G (p.Val162=)
c.504C>G (p.Val168=)
c.302-19148C>G (n.302-19148C>G)
n.615C>G
Xg.110719869G>TCA518021689CHRDL1c.507C>A (p.Val169=)
c.486C>A (p.Val162=)
c.504C>A (p.Val168=)
c.302-19148C>A (n.302-19148C>A)
n.615C>A
Xg.110719870A>CCA414226461CHRDL1c.506T>G (p.Val169Gly)
c.485T>G (p.Val162Gly)
c.503T>G (p.Val168Gly)
c.302-19149T>G (n.302-19149T>G)
n.614T>G
Xg.110719870A>GCA414226471CHRDL1c.506T>C (p.Val169Ala)
c.485T>C (p.Val162Ala)
c.503T>C (p.Val168Ala)
c.302-19149T>C (n.302-19149T>C)
n.614T>C
Xg.110719870A>TCA414226467CHRDL1c.506T>A (p.Val169Asp)
c.485T>A (p.Val162Asp)
c.503T>A (p.Val168Asp)
c.302-19149T>A (n.302-19149T>A)
n.614T>A
Xg.110719871C>ACA414226473CHRDL1c.505G>T (p.Val169Phe)
c.484G>T (p.Val162Phe)
c.502G>T (p.Val168Phe)
c.302-19150G>T (n.302-19150G>T)
n.613G>T
 COSMIC
Xg.110719871C>GCA414226475CHRDL1c.505G>C (p.Val169Leu)
c.484G>C (p.Val162Leu)
c.502G>C (p.Val168Leu)
c.302-19150G>C (n.302-19150G>C)
n.613G>C
Xg.110719871C>TCA414226477CHRDL1c.505G>A (p.Val169Ile)
c.484G>A (p.Val162Ile)
c.502G>A (p.Val168Ile)
c.302-19150G>A (n.302-19150G>A)
n.613G>A
 COSMIC
Xg.110719872T>ACA518021697CHRDL1c.504A>T (p.Pro168=)
c.483A>T (p.Pro161=)
c.501A>T (p.Pro167=)
c.302-19151A>T (n.302-19151A>T)
n.612A>T
Xg.110719872T>CCA518021699CHRDL1c.504A>G (p.Pro168=)
c.483A>G (p.Pro161=)
c.501A>G (p.Pro167=)
c.302-19151A>G (n.302-19151A>G)
n.612A>G
 dbSNP gnomAD v4
Xg.110719872T>GCA518021702CHRDL1c.504A>C (p.Pro168=)
c.483A>C (p.Pro161=)
c.501A>C (p.Pro167=)
c.302-19151A>C (n.302-19151A>C)
n.612A>C
Xg.110719872T=CA2451467334CHRDL1c.504A= (p.Pro168=)
c.483A= (p.Pro161=)
c.501A= (p.Pro167=)
c.302-19151A= (n.302-19151A=)
n.612A=
Xg.110719873G>ACA414226480CHRDL1c.503C>T (p.Pro168Leu)
c.482C>T (p.Pro161Leu)
c.500C>T (p.Pro167Leu)
c.302-19152C>T (n.302-19152C>T)
n.611C>T
Xg.110719873G>CCA414226482CHRDL1c.503C>G (p.Pro168Arg)
c.482C>G (p.Pro161Arg)
c.500C>G (p.Pro167Arg)
c.302-19152C>G (n.302-19152C>G)
n.611C>G

Number of alleles fetched