Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24596137_24596151delCA2677536219KIAA0319c.524_538del (p.Glu175_Ser179del)
c.389_403del (p.Glu130_Ser134del)
c.497_511del (p.Glu166_Ser170del)
c.68_82del (p.Glu23_Ser27del)
c.542_556del (p.Glu181_Ser185del)
c.506_520del (p.Glu169_Ser173del)
n.767_781del
 gnomAD v4
6g.24596150T>ACA362971403KIAA0319c.524A>T (p.Glu175Val)
c.389A>T (p.Glu130Val)
c.497A>T (p.Glu166Val)
c.68A>T (p.Glu23Val)
c.542A>T (p.Glu181Val)
c.506A>T (p.Glu169Val)
n.767A>T
6g.24596150T>CCA362971404KIAA0319c.524A>G (p.Glu175Gly)
c.389A>G (p.Glu130Gly)
c.497A>G (p.Glu166Gly)
c.68A>G (p.Glu23Gly)
c.542A>G (p.Glu181Gly)
c.506A>G (p.Glu169Gly)
n.767A>G
6g.24596150T>GCA362971405KIAA0319c.524A>C (p.Glu175Ala)
c.389A>C (p.Glu130Ala)
c.497A>C (p.Glu166Ala)
c.68A>C (p.Glu23Ala)
c.542A>C (p.Glu181Ala)
c.506A>C (p.Glu169Ala)
n.767A>C
6g.24596151C>ACA362971406KIAA0319c.523G>T (p.Glu175Ter)
c.388G>T (p.Glu130Ter)
c.496G>T (p.Glu166Ter)
c.67G>T (p.Glu23Ter)
c.541G>T (p.Glu181Ter)
c.505G>T (p.Glu169Ter)
n.766G>T
 dbSNP
6g.24596151C=CA1616548823KIAA0319c.523G= (p.Glu175=)
c.388G= (p.Glu130=)
c.496G= (p.Glu166=)
c.67G= (p.Glu23=)
c.541G= (p.Glu181=)
c.505G= (p.Glu169=)
n.766G=
6g.24596151C>GCA362971407KIAA0319c.523G>C (p.Glu175Gln)
c.388G>C (p.Glu130Gln)
c.496G>C (p.Glu166Gln)
c.67G>C (p.Glu23Gln)
c.541G>C (p.Glu181Gln)
c.505G>C (p.Glu169Gln)
n.766G>C
6g.24596151C>TCA136131439KIAA0319c.523G>A (p.Glu175Lys)
c.388G>A (p.Glu130Lys)
c.496G>A (p.Glu166Lys)
c.67G>A (p.Glu23Lys)
c.541G>A (p.Glu181Lys)
c.505G>A (p.Glu169Lys)
n.766G>A
 dbSNP gnomAD v2 gnomAD v4
6g.24596152C>ACA362971408KIAA0319c.522G>T (p.Gln174His)
c.387G>T (p.Gln129His)
c.495G>T (p.Gln165His)
c.66G>T (p.Gln22His)
c.540G>T (p.Gln180His)
c.504G>T (p.Gln168His)
n.765G>T
6g.24596152C>GCA362971409KIAA0319c.522G>C (p.Gln174His)
c.387G>C (p.Gln129His)
c.495G>C (p.Gln165His)
c.66G>C (p.Gln22His)
c.540G>C (p.Gln180His)
c.504G>C (p.Gln168His)
n.765G>C
6g.24596152C>TCA448958883KIAA0319c.522G>A (p.Gln174=)
c.387G>A (p.Gln129=)
c.495G>A (p.Gln165=)
c.66G>A (p.Gln22=)
c.540G>A (p.Gln180=)
c.504G>A (p.Gln168=)
n.765G>A
6g.24596153T>ACA362971410KIAA0319c.521A>T (p.Gln174Leu)
c.386A>T (p.Gln129Leu)
c.494A>T (p.Gln165Leu)
c.65A>T (p.Gln22Leu)
c.539A>T (p.Gln180Leu)
c.503A>T (p.Gln168Leu)
n.764A>T
6g.24596153T>CCA3657829KIAA0319c.521A>G (p.Gln174Arg)
c.386A>G (p.Gln129Arg)
c.494A>G (p.Gln165Arg)
c.65A>G (p.Gln22Arg)
c.539A>G (p.Gln180Arg)
c.503A>G (p.Gln168Arg)
n.764A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596153T>GCA362971411KIAA0319c.521A>C (p.Gln174Pro)
c.386A>C (p.Gln129Pro)
c.494A>C (p.Gln165Pro)
c.65A>C (p.Gln22Pro)
c.539A>C (p.Gln180Pro)
c.503A>C (p.Gln168Pro)
n.764A>C
6g.24596153T=CA1616548824KIAA0319c.521A= (p.Gln174=)
c.386A= (p.Gln129=)
c.494A= (p.Gln165=)
c.65A= (p.Gln22=)
c.539A= (p.Gln180=)
c.503A= (p.Gln168=)
n.764A=
6g.24596154G>ACA362971414KIAA0319c.520C>T (p.Gln174Ter)
c.385C>T (p.Gln129Ter)
c.493C>T (p.Gln165Ter)
c.64C>T (p.Gln22Ter)
c.538C>T (p.Gln180Ter)
c.502C>T (p.Gln168Ter)
n.763C>T
6g.24596154G>CCA362971413KIAA0319c.520C>G (p.Gln174Glu)
c.385C>G (p.Gln129Glu)
c.493C>G (p.Gln165Glu)
c.64C>G (p.Gln22Glu)
c.538C>G (p.Gln180Glu)
c.502C>G (p.Gln168Glu)
n.763C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24596154G=CA1616548825KIAA0319c.520C= (p.Gln174=)
c.385C= (p.Gln129=)
c.493C= (p.Gln165=)
c.64C= (p.Gln22=)
c.538C= (p.Gln180=)
c.502C= (p.Gln168=)
n.763C=
6g.24596154G>TCA362971412KIAA0319c.520C>A (p.Gln174Lys)
c.385C>A (p.Gln129Lys)
c.493C>A (p.Gln165Lys)
c.64C>A (p.Gln22Lys)
c.538C>A (p.Gln180Lys)
c.502C>A (p.Gln168Lys)
n.763C>A
6g.24596155C>ACA362971415KIAA0319c.519G>T (p.Lys173Asn)
c.384G>T (p.Lys128Asn)
c.492G>T (p.Lys164Asn)
c.63G>T (p.Lys21Asn)
c.537G>T (p.Lys179Asn)
c.501G>T (p.Lys167Asn)
n.762G>T
6g.24596155C>GCA362971416KIAA0319c.519G>C (p.Lys173Asn)
c.384G>C (p.Lys128Asn)
c.492G>C (p.Lys164Asn)
c.63G>C (p.Lys21Asn)
c.537G>C (p.Lys179Asn)
c.501G>C (p.Lys167Asn)
n.762G>C
6g.24596155C>TCA448958884KIAA0319c.519G>A (p.Lys173=)
c.384G>A (p.Lys128=)
c.492G>A (p.Lys164=)
c.63G>A (p.Lys21=)
c.537G>A (p.Lys179=)
c.501G>A (p.Lys167=)
n.762G>A
 dbSNP
6g.24596156T>ACA362971417KIAA0319c.518A>T (p.Lys173Met)
c.383A>T (p.Lys128Met)
c.491A>T (p.Lys164Met)
c.62A>T (p.Lys21Met)
c.536A>T (p.Lys179Met)
c.500A>T (p.Lys167Met)
n.761A>T
6g.24596156T>CCA362971418KIAA0319c.518A>G (p.Lys173Arg)
c.383A>G (p.Lys128Arg)
c.491A>G (p.Lys164Arg)
c.62A>G (p.Lys21Arg)
c.536A>G (p.Lys179Arg)
c.500A>G (p.Lys167Arg)
n.761A>G
 gnomAD v4
6g.24596156T>GCA362971419KIAA0319c.518A>C (p.Lys173Thr)
c.383A>C (p.Lys128Thr)
c.491A>C (p.Lys164Thr)
c.62A>C (p.Lys21Thr)
c.536A>C (p.Lys179Thr)
c.500A>C (p.Lys167Thr)
n.761A>C
6g.24596157T>ACA362971420KIAA0319c.517A>T (p.Lys173Ter)
c.382A>T (p.Lys128Ter)
c.490A>T (p.Lys164Ter)
c.61A>T (p.Lys21Ter)
c.535A>T (p.Lys179Ter)
c.499A>T (p.Lys167Ter)
n.760A>T
6g.24596157T>CCA362971421KIAA0319c.517A>G (p.Lys173Glu)
c.382A>G (p.Lys128Glu)
c.490A>G (p.Lys164Glu)
c.61A>G (p.Lys21Glu)
c.535A>G (p.Lys179Glu)
c.499A>G (p.Lys167Glu)
n.760A>G
6g.24596157T>GCA362971422KIAA0319c.517A>C (p.Lys173Gln)
c.382A>C (p.Lys128Gln)
c.490A>C (p.Lys164Gln)
c.61A>C (p.Lys21Gln)
c.535A>C (p.Lys179Gln)
c.499A>C (p.Lys167Gln)
n.760A>C
6g.24596158G>ACA448958885KIAA0319c.516C>T (p.Gly172=)
c.381C>T (p.Gly127=)
c.489C>T (p.Gly163=)
c.60C>T (p.Gly20=)
c.534C>T (p.Gly178=)
c.498C>T (p.Gly166=)
n.759C>T
6g.24596158G>CCA448958886KIAA0319c.516C>G (p.Gly172=)
c.381C>G (p.Gly127=)
c.489C>G (p.Gly163=)
c.60C>G (p.Gly20=)
c.534C>G (p.Gly178=)
c.498C>G (p.Gly166=)
n.759C>G
6g.24596158G>TCA448958887KIAA0319c.516C>A (p.Gly172=)
c.381C>A (p.Gly127=)
c.489C>A (p.Gly163=)
c.60C>A (p.Gly20=)
c.534C>A (p.Gly178=)
c.498C>A (p.Gly166=)
n.759C>A
6g.24596159C>ACA362971423KIAA0319c.515G>T (p.Gly172Val)
c.380G>T (p.Gly127Val)
c.488G>T (p.Gly163Val)
c.59G>T (p.Gly20Val)
c.533G>T (p.Gly178Val)
c.497G>T (p.Gly166Val)
n.758G>T
6g.24596159C>GCA362971424KIAA0319c.515G>C (p.Gly172Ala)
c.380G>C (p.Gly127Ala)
c.488G>C (p.Gly163Ala)
c.59G>C (p.Gly20Ala)
c.533G>C (p.Gly178Ala)
c.497G>C (p.Gly166Ala)
n.758G>C
6g.24596159C>TCA362971425KIAA0319c.515G>A (p.Gly172Asp)
c.380G>A (p.Gly127Asp)
c.488G>A (p.Gly163Asp)
c.59G>A (p.Gly20Asp)
c.533G>A (p.Gly178Asp)
c.497G>A (p.Gly166Asp)
n.758G>A
6g.24596160C>ACA362971428KIAA0319c.514G>T (p.Gly172Cys)
c.379G>T (p.Gly127Cys)
c.487G>T (p.Gly163Cys)
c.58G>T (p.Gly20Cys)
c.532G>T (p.Gly178Cys)
c.496G>T (p.Gly166Cys)
n.757G>T
6g.24596160C>GCA362971427KIAA0319c.514G>C (p.Gly172Arg)
c.379G>C (p.Gly127Arg)
c.487G>C (p.Gly163Arg)
c.58G>C (p.Gly20Arg)
c.532G>C (p.Gly178Arg)
c.496G>C (p.Gly166Arg)
n.757G>C
6g.24596160C>TCA362971426KIAA0319c.514G>A (p.Gly172Ser)
c.379G>A (p.Gly127Ser)
c.487G>A (p.Gly163Ser)
c.58G>A (p.Gly20Ser)
c.532G>A (p.Gly178Ser)
c.496G>A (p.Gly166Ser)
n.757G>A
 gnomAD v4
6g.24596161A>CCA362971429KIAA0319c.513T>G (p.Ser171Arg)
c.378T>G (p.Ser126Arg)
c.486T>G (p.Ser162Arg)
c.57T>G (p.Ser19Arg)
c.531T>G (p.Ser177Arg)
c.495T>G (p.Ser165Arg)
n.756T>G
 gnomAD v4
6g.24596161A>GCA448958888KIAA0319c.513T>C (p.Ser171=)
c.378T>C (p.Ser126=)
c.486T>C (p.Ser162=)
c.57T>C (p.Ser19=)
c.531T>C (p.Ser177=)
c.495T>C (p.Ser165=)
n.756T>C
6g.24596161A>TCA362971430KIAA0319c.513T>A (p.Ser171Arg)
c.378T>A (p.Ser126Arg)
c.486T>A (p.Ser162Arg)
c.57T>A (p.Ser19Arg)
c.531T>A (p.Ser177Arg)
c.495T>A (p.Ser165Arg)
n.756T>A
6g.24596162C>ACA362971431KIAA0319c.512G>T (p.Ser171Ile)
c.377G>T (p.Ser126Ile)
c.485G>T (p.Ser162Ile)
c.56G>T (p.Ser19Ile)
c.530G>T (p.Ser177Ile)
c.494G>T (p.Ser165Ile)
n.755G>T
6g.24596162C=CA1616548826KIAA0319c.512G= (p.Ser171=)
c.377G= (p.Ser126=)
c.485G= (p.Ser162=)
c.56G= (p.Ser19=)
c.530G= (p.Ser177=)
c.494G= (p.Ser165=)
n.755G=
6g.24596162C>GCA362971432KIAA0319c.512G>C (p.Ser171Thr)
c.377G>C (p.Ser126Thr)
c.485G>C (p.Ser162Thr)
c.56G>C (p.Ser19Thr)
c.530G>C (p.Ser177Thr)
c.494G>C (p.Ser165Thr)
n.755G>C
 dbSNP gnomAD v4
6g.24596162C>TCA3657830KIAA0319c.512G>A (p.Ser171Asn)
c.377G>A (p.Ser126Asn)
c.485G>A (p.Ser162Asn)
c.56G>A (p.Ser19Asn)
c.530G>A (p.Ser177Asn)
c.494G>A (p.Ser165Asn)
n.755G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596163T>ACA362971433KIAA0319c.511A>T (p.Ser171Cys)
c.376A>T (p.Ser126Cys)
c.484A>T (p.Ser162Cys)
c.55A>T (p.Ser19Cys)
c.529A>T (p.Ser177Cys)
c.493A>T (p.Ser165Cys)
n.754A>T
6g.24596163T>CCA362971434KIAA0319c.511A>G (p.Ser171Gly)
c.376A>G (p.Ser126Gly)
c.484A>G (p.Ser162Gly)
c.55A>G (p.Ser19Gly)
c.529A>G (p.Ser177Gly)
c.493A>G (p.Ser165Gly)
n.754A>G
6g.24596163T>GCA362971435KIAA0319c.511A>C (p.Ser171Arg)
c.376A>C (p.Ser126Arg)
c.484A>C (p.Ser162Arg)
c.55A>C (p.Ser19Arg)
c.529A>C (p.Ser177Arg)
c.493A>C (p.Ser165Arg)
n.754A>C
6g.24596164G>ACA448958889KIAA0319c.510C>T (p.Pro170=)
c.375C>T (p.Pro125=)
c.483C>T (p.Pro161=)
c.54C>T (p.Pro18=)
c.528C>T (p.Pro176=)
c.492C>T (p.Pro164=)
n.753C>T
6g.24596164G>CCA448958890KIAA0319c.510C>G (p.Pro170=)
c.375C>G (p.Pro125=)
c.483C>G (p.Pro161=)
c.54C>G (p.Pro18=)
c.528C>G (p.Pro176=)
c.492C>G (p.Pro164=)
n.753C>G
6g.24596164G>TCA448958891KIAA0319c.510C>A (p.Pro170=)
c.375C>A (p.Pro125=)
c.483C>A (p.Pro161=)
c.54C>A (p.Pro18=)
c.528C>A (p.Pro176=)
c.492C>A (p.Pro164=)
n.753C>A

Number of alleles fetched