Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.24596160delCA2839903889KIAA0319c.515del (p.Gly172AlafsTer?)
c.380del (p.Gly127AlafsTer?)
c.488del (p.Gly163AlafsTer?)
c.59del (p.Gly20AlafsTer?)
c.533del (p.Gly178AlafsTer?)
c.497del (p.Gly166AlafsTer?)
n.758del
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
6g.24596165G>ACA362971436KIAA0319c.509C>T (p.Pro170Leu)
c.374C>T (p.Pro125Leu)
c.482C>T (p.Pro161Leu)
c.53C>T (p.Pro18Leu)
c.527C>T (p.Pro176Leu)
c.491C>T (p.Pro164Leu)
n.752C>T
6g.24596165G>CCA362971437KIAA0319c.509C>G (p.Pro170Arg)
c.374C>G (p.Pro125Arg)
c.482C>G (p.Pro161Arg)
c.53C>G (p.Pro18Arg)
c.527C>G (p.Pro176Arg)
c.491C>G (p.Pro164Arg)
n.752C>G
6g.24596165G>TCA362971438KIAA0319c.509C>A (p.Pro170His)
c.374C>A (p.Pro125His)
c.482C>A (p.Pro161His)
c.53C>A (p.Pro18His)
c.527C>A (p.Pro176His)
c.491C>A (p.Pro164His)
n.752C>A
 gnomAD v4
6g.24596166G>ACA362971441KIAA0319c.508C>T (p.Pro170Ser)
c.373C>T (p.Pro125Ser)
c.481C>T (p.Pro161Ser)
c.52C>T (p.Pro18Ser)
c.526C>T (p.Pro176Ser)
c.490C>T (p.Pro164Ser)
n.751C>T
6g.24596166G>CCA362971440KIAA0319c.508C>G (p.Pro170Ala)
c.373C>G (p.Pro125Ala)
c.481C>G (p.Pro161Ala)
c.52C>G (p.Pro18Ala)
c.526C>G (p.Pro176Ala)
c.490C>G (p.Pro164Ala)
n.751C>G
6g.24596166G>TCA362971439KIAA0319c.508C>A (p.Pro170Thr)
c.373C>A (p.Pro125Thr)
c.481C>A (p.Pro161Thr)
c.52C>A (p.Pro18Thr)
c.526C>A (p.Pro176Thr)
c.490C>A (p.Pro164Thr)
n.751C>A
6g.24596167T>ACA362971442KIAA0319c.507A>T (p.Gln169His)
c.372A>T (p.Gln124His)
c.480A>T (p.Gln160His)
c.51A>T (p.Gln17His)
c.525A>T (p.Gln175His)
c.489A>T (p.Gln163His)
n.750A>T
6g.24596167T>CCA448958892KIAA0319c.507A>G (p.Gln169=)
c.372A>G (p.Gln124=)
c.480A>G (p.Gln160=)
c.51A>G (p.Gln17=)
c.525A>G (p.Gln175=)
c.489A>G (p.Gln163=)
n.750A>G
6g.24596167T>GCA362971443KIAA0319c.507A>C (p.Gln169His)
c.372A>C (p.Gln124His)
c.480A>C (p.Gln160His)
c.51A>C (p.Gln17His)
c.525A>C (p.Gln175His)
c.489A>C (p.Gln163His)
n.750A>C
6g.24596168T>ACA362971444KIAA0319c.506A>T (p.Gln169Leu)
c.371A>T (p.Gln124Leu)
c.479A>T (p.Gln160Leu)
c.50A>T (p.Gln17Leu)
c.524A>T (p.Gln175Leu)
c.488A>T (p.Gln163Leu)
n.749A>T
6g.24596168T>CCA362971445KIAA0319c.506A>G (p.Gln169Arg)
c.371A>G (p.Gln124Arg)
c.479A>G (p.Gln160Arg)
c.50A>G (p.Gln17Arg)
c.524A>G (p.Gln175Arg)
c.488A>G (p.Gln163Arg)
n.749A>G
6g.24596168T>GCA362971446KIAA0319c.506A>C (p.Gln169Pro)
c.371A>C (p.Gln124Pro)
c.479A>C (p.Gln160Pro)
c.50A>C (p.Gln17Pro)
c.524A>C (p.Gln175Pro)
c.488A>C (p.Gln163Pro)
n.749A>C
6g.24596169G>ACA362971447KIAA0319c.505C>T (p.Gln169Ter)
c.370C>T (p.Gln124Ter)
c.478C>T (p.Gln160Ter)
c.49C>T (p.Gln17Ter)
c.523C>T (p.Gln175Ter)
c.487C>T (p.Gln163Ter)
n.748C>T
6g.24596169G>CCA362971449KIAA0319c.505C>G (p.Gln169Glu)
c.370C>G (p.Gln124Glu)
c.478C>G (p.Gln160Glu)
c.49C>G (p.Gln17Glu)
c.523C>G (p.Gln175Glu)
c.487C>G (p.Gln163Glu)
n.748C>G
6g.24596169G>TCA362971451KIAA0319c.505C>A (p.Gln169Lys)
c.370C>A (p.Gln124Lys)
c.478C>A (p.Gln160Lys)
c.49C>A (p.Gln17Lys)
c.523C>A (p.Gln175Lys)
c.487C>A (p.Gln163Lys)
n.748C>A
 COSMIC
6g.24596170C>ACA362971453KIAA0319c.504G>T (p.Leu168Phe)
c.369G>T (p.Leu123Phe)
c.477G>T (p.Leu159Phe)
c.48G>T (p.Leu16Phe)
c.522G>T (p.Leu174Phe)
c.486G>T (p.Leu162Phe)
n.747G>T
6g.24596170C>GCA362971455KIAA0319c.504G>C (p.Leu168Phe)
c.369G>C (p.Leu123Phe)
c.477G>C (p.Leu159Phe)
c.48G>C (p.Leu16Phe)
c.522G>C (p.Leu174Phe)
c.486G>C (p.Leu162Phe)
n.747G>C
6g.24596170C>TCA448958893KIAA0319c.504G>A (p.Leu168=)
c.369G>A (p.Leu123=)
c.477G>A (p.Leu159=)
c.48G>A (p.Leu16=)
c.522G>A (p.Leu174=)
c.486G>A (p.Leu162=)
n.747G>A
6g.24596171A=CA1616548827KIAA0319c.503T= (p.Leu168=)
c.368T= (p.Leu123=)
c.476T= (p.Leu159=)
c.47T= (p.Leu16=)
c.521T= (p.Leu174=)
c.485T= (p.Leu162=)
n.746T=
6g.24596171A>CCA136131447KIAA0319c.503T>G (p.Leu168Trp)
c.368T>G (p.Leu123Trp)
c.476T>G (p.Leu159Trp)
c.47T>G (p.Leu16Trp)
c.521T>G (p.Leu174Trp)
c.485T>G (p.Leu162Trp)
n.746T>G
 dbSNP
6g.24596171A>GCA362971458KIAA0319c.503T>C (p.Leu168Ser)
c.368T>C (p.Leu123Ser)
c.476T>C (p.Leu159Ser)
c.47T>C (p.Leu16Ser)
c.521T>C (p.Leu174Ser)
c.485T>C (p.Leu162Ser)
n.746T>C
6g.24596171A>TCA362971460KIAA0319c.503T>A (p.Leu168Ter)
c.368T>A (p.Leu123Ter)
c.476T>A (p.Leu159Ter)
c.47T>A (p.Leu16Ter)
c.521T>A (p.Leu174Ter)
c.485T>A (p.Leu162Ter)
n.746T>A
6g.24596172A=CA1616548828KIAA0319c.502T= (p.Leu168=)
c.367T= (p.Leu123=)
c.475T= (p.Leu159=)
c.46T= (p.Leu16=)
c.520T= (p.Leu174=)
c.484T= (p.Leu162=)
n.745T=
6g.24596172A>CCA362971462KIAA0319c.502T>G (p.Leu168Val)
c.367T>G (p.Leu123Val)
c.475T>G (p.Leu159Val)
c.46T>G (p.Leu16Val)
c.520T>G (p.Leu174Val)
c.484T>G (p.Leu162Val)
n.745T>G
6g.24596172A>GCA448959352KIAA0319c.502T>C (p.Leu168=)
c.367T>C (p.Leu123=)
c.475T>C (p.Leu159=)
c.46T>C (p.Leu16=)
c.520T>C (p.Leu174=)
c.484T>C (p.Leu162=)
n.745T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24596172A>TCA362971464KIAA0319c.502T>A (p.Leu168Met)
c.367T>A (p.Leu123Met)
c.475T>A (p.Leu159Met)
c.46T>A (p.Leu16Met)
c.520T>A (p.Leu174Met)
c.484T>A (p.Leu162Met)
n.745T>A
6g.24596173G>ACA448959353KIAA0319c.501C>T (p.Leu167=)
c.366C>T (p.Leu122=)
c.474C>T (p.Leu158=)
c.45C>T (p.Leu15=)
c.519C>T (p.Leu173=)
c.483C>T (p.Leu161=)
n.744C>T
6g.24596173G>CCA448959354KIAA0319c.501C>G (p.Leu167=)
c.366C>G (p.Leu122=)
c.474C>G (p.Leu158=)
c.45C>G (p.Leu15=)
c.519C>G (p.Leu173=)
c.483C>G (p.Leu161=)
n.744C>G
6g.24596173G>TCA448959355KIAA0319c.501C>A (p.Leu167=)
c.366C>A (p.Leu122=)
c.474C>A (p.Leu158=)
c.45C>A (p.Leu15=)
c.519C>A (p.Leu173=)
c.483C>A (p.Leu161=)
n.744C>A
6g.24596174A>CCA362971466KIAA0319c.500T>G (p.Leu167Arg)
c.365T>G (p.Leu122Arg)
c.473T>G (p.Leu158Arg)
c.44T>G (p.Leu15Arg)
c.518T>G (p.Leu173Arg)
c.482T>G (p.Leu161Arg)
n.743T>G
6g.24596174A>GCA362971470KIAA0319c.500T>C (p.Leu167Pro)
c.365T>C (p.Leu122Pro)
c.473T>C (p.Leu158Pro)
c.44T>C (p.Leu15Pro)
c.518T>C (p.Leu173Pro)
c.482T>C (p.Leu161Pro)
n.743T>C
6g.24596174A>TCA362971468KIAA0319c.500T>A (p.Leu167His)
c.365T>A (p.Leu122His)
c.473T>A (p.Leu158His)
c.44T>A (p.Leu15His)
c.518T>A (p.Leu173His)
c.482T>A (p.Leu161His)
n.743T>A
6g.24596175G>ACA362971473KIAA0319c.499C>T (p.Leu167Phe)
c.364C>T (p.Leu122Phe)
c.472C>T (p.Leu158Phe)
c.43C>T (p.Leu15Phe)
c.517C>T (p.Leu173Phe)
c.481C>T (p.Leu161Phe)
n.742C>T
6g.24596175G>CCA362971475KIAA0319c.499C>G (p.Leu167Val)
c.364C>G (p.Leu122Val)
c.472C>G (p.Leu158Val)
c.43C>G (p.Leu15Val)
c.517C>G (p.Leu173Val)
c.481C>G (p.Leu161Val)
n.742C>G
6g.24596175G>TCA362971474KIAA0319c.499C>A (p.Leu167Ile)
c.364C>A (p.Leu122Ile)
c.472C>A (p.Leu158Ile)
c.43C>A (p.Leu15Ile)
c.517C>A (p.Leu173Ile)
c.481C>A (p.Leu161Ile)
n.742C>A
6g.24596176G>ACA448959356KIAA0319c.498C>T (p.Asp166=)
c.363C>T (p.Asp121=)
c.471C>T (p.Asp157=)
c.42C>T (p.Asp14=)
c.516C>T (p.Asp172=)
c.480C>T (p.Asp160=)
n.741C>T
6g.24596176G>CCA362971478KIAA0319c.498C>G (p.Asp166Glu)
c.363C>G (p.Asp121Glu)
c.471C>G (p.Asp157Glu)
c.42C>G (p.Asp14Glu)
c.516C>G (p.Asp172Glu)
c.480C>G (p.Asp160Glu)
n.741C>G
6g.24596176G>TCA362971479KIAA0319c.498C>A (p.Asp166Glu)
c.363C>A (p.Asp121Glu)
c.471C>A (p.Asp157Glu)
c.42C>A (p.Asp14Glu)
c.516C>A (p.Asp172Glu)
c.480C>A (p.Asp160Glu)
n.741C>A
6g.24596177T>ACA362971481KIAA0319c.497A>T (p.Asp166Val)
c.362A>T (p.Asp121Val)
c.470A>T (p.Asp157Val)
c.41A>T (p.Asp14Val)
c.515A>T (p.Asp172Val)
c.479A>T (p.Asp160Val)
n.740A>T
6g.24596177T>CCA362971483KIAA0319c.497A>G (p.Asp166Gly)
c.362A>G (p.Asp121Gly)
c.470A>G (p.Asp157Gly)
c.41A>G (p.Asp14Gly)
c.515A>G (p.Asp172Gly)
c.479A>G (p.Asp160Gly)
n.740A>G
6g.24596177T>GCA362971485KIAA0319c.497A>C (p.Asp166Ala)
c.362A>C (p.Asp121Ala)
c.470A>C (p.Asp157Ala)
c.41A>C (p.Asp14Ala)
c.515A>C (p.Asp172Ala)
c.479A>C (p.Asp160Ala)
n.740A>C
6g.24596178C>ACA362971486KIAA0319c.496G>T (p.Asp166Tyr)
c.361G>T (p.Asp121Tyr)
c.469G>T (p.Asp157Tyr)
c.40G>T (p.Asp14Tyr)
c.514G>T (p.Asp172Tyr)
c.478G>T (p.Asp160Tyr)
n.739G>T
6g.24596178C>GCA362971489KIAA0319c.496G>C (p.Asp166His)
c.361G>C (p.Asp121His)
c.469G>C (p.Asp157His)
c.40G>C (p.Asp14His)
c.514G>C (p.Asp172His)
c.478G>C (p.Asp160His)
n.739G>C
6g.24596178C>TCA362971491KIAA0319c.496G>A (p.Asp166Asn)
c.361G>A (p.Asp121Asn)
c.469G>A (p.Asp157Asn)
c.40G>A (p.Asp14Asn)
c.514G>A (p.Asp172Asn)
c.478G>A (p.Asp160Asn)
n.739G>A
6g.24596179C>ACA362971493KIAA0319c.495G>T (p.Lys165Asn)
c.360G>T (p.Lys120Asn)
c.468G>T (p.Lys156Asn)
c.39G>T (p.Lys13Asn)
c.513G>T (p.Lys171Asn)
c.477G>T (p.Lys159Asn)
n.738G>T
6g.24596179C>GCA362971494KIAA0319c.495G>C (p.Lys165Asn)
c.360G>C (p.Lys120Asn)
c.468G>C (p.Lys156Asn)
c.39G>C (p.Lys13Asn)
c.513G>C (p.Lys171Asn)
c.477G>C (p.Lys159Asn)
n.738G>C
6g.24596179C>TCA448959357KIAA0319c.495G>A (p.Lys165=)
c.360G>A (p.Lys120=)
c.468G>A (p.Lys156=)
c.39G>A (p.Lys13=)
c.513G>A (p.Lys171=)
c.477G>A (p.Lys159=)
n.738G>A
 gnomAD v4 COSMIC
6g.24596180T>ACA362971500KIAA0319c.494A>T (p.Lys165Met)
c.359A>T (p.Lys120Met)
c.467A>T (p.Lys156Met)
c.38A>T (p.Lys13Met)
c.512A>T (p.Lys171Met)
c.476A>T (p.Lys159Met)
n.737A>T
6g.24596180T>CCA362971499KIAA0319c.494A>G (p.Lys165Arg)
c.359A>G (p.Lys120Arg)
c.467A>G (p.Lys156Arg)
c.38A>G (p.Lys13Arg)
c.512A>G (p.Lys171Arg)
c.476A>G (p.Lys159Arg)
n.737A>G
6g.24596180T>GCA362971497KIAA0319c.494A>C (p.Lys165Thr)
c.359A>C (p.Lys120Thr)
c.467A>C (p.Lys156Thr)
c.38A>C (p.Lys13Thr)
c.512A>C (p.Lys171Thr)
c.476A>C (p.Lys159Thr)
n.737A>C
6g.24596181T>ACA362971502KIAA0319c.493A>T (p.Lys165Ter)
c.358A>T (p.Lys120Ter)
c.466A>T (p.Lys156Ter)
c.37A>T (p.Lys13Ter)
c.511A>T (p.Lys171Ter)
c.475A>T (p.Lys159Ter)
n.736A>T
6g.24596181T>CCA362971504KIAA0319c.493A>G (p.Lys165Glu)
c.358A>G (p.Lys120Glu)
c.466A>G (p.Lys156Glu)
c.37A>G (p.Lys13Glu)
c.511A>G (p.Lys171Glu)
c.475A>G (p.Lys159Glu)
n.736A>G
6g.24596181T>GCA362971506KIAA0319c.493A>C (p.Lys165Gln)
c.358A>C (p.Lys120Gln)
c.466A>C (p.Lys156Gln)
c.37A>C (p.Lys13Gln)
c.511A>C (p.Lys171Gln)
c.475A>C (p.Lys159Gln)
n.736A>C
6g.24596182C>ACA362971507KIAA0319c.492G>T (p.Glu164Asp)
c.357G>T (p.Glu119Asp)
c.465G>T (p.Glu155Asp)
c.36G>T (p.Glu12Asp)
c.510G>T (p.Glu170Asp)
c.474G>T (p.Glu158Asp)
n.735G>T
6g.24596182C=CA1616548829KIAA0319c.492G= (p.Glu164=)
c.357G= (p.Glu119=)
c.465G= (p.Glu155=)
c.36G= (p.Glu12=)
c.510G= (p.Glu170=)
c.474G= (p.Glu158=)
n.735G=
6g.24596182C>GCA362971509KIAA0319c.492G>C (p.Glu164Asp)
c.357G>C (p.Glu119Asp)
c.465G>C (p.Glu155Asp)
c.36G>C (p.Glu12Asp)
c.510G>C (p.Glu170Asp)
c.474G>C (p.Glu158Asp)
n.735G>C
6g.24596182C>TCA448959358KIAA0319c.492G>A (p.Glu164=)
c.357G>A (p.Glu119=)
c.465G>A (p.Glu155=)
c.36G>A (p.Glu12=)
c.510G>A (p.Glu170=)
c.474G>A (p.Glu158=)
n.735G>A
 dbSNP gnomAD v2 gnomAD v4
6g.24596183T>ACA362971511KIAA0319c.491A>T (p.Glu164Val)
c.356A>T (p.Glu119Val)
c.464A>T (p.Glu155Val)
c.35A>T (p.Glu12Val)
c.509A>T (p.Glu170Val)
c.473A>T (p.Glu158Val)
n.734A>T
6g.24596183T>CCA362971513KIAA0319c.491A>G (p.Glu164Gly)
c.356A>G (p.Glu119Gly)
c.464A>G (p.Glu155Gly)
c.35A>G (p.Glu12Gly)
c.509A>G (p.Glu170Gly)
c.473A>G (p.Glu158Gly)
n.734A>G
6g.24596183T>GCA362971515KIAA0319c.491A>C (p.Glu164Ala)
c.356A>C (p.Glu119Ala)
c.464A>C (p.Glu155Ala)
c.35A>C (p.Glu12Ala)
c.509A>C (p.Glu170Ala)
c.473A>C (p.Glu158Ala)
n.734A>C
6g.24596184C>ACA362971518KIAA0319c.490G>T (p.Glu164Ter)
c.355G>T (p.Glu119Ter)
c.463G>T (p.Glu155Ter)
c.34G>T (p.Glu12Ter)
c.508G>T (p.Glu170Ter)
c.472G>T (p.Glu158Ter)
n.733G>T
6g.24596184C=CA1616548830KIAA0319c.490G= (p.Glu164=)
c.355G= (p.Glu119=)
c.463G= (p.Glu155=)
c.34G= (p.Glu12=)
c.508G= (p.Glu170=)
c.472G= (p.Glu158=)
n.733G=
6g.24596184C>GCA362971520KIAA0319c.490G>C (p.Glu164Gln)
c.355G>C (p.Glu119Gln)
c.463G>C (p.Glu155Gln)
c.34G>C (p.Glu12Gln)
c.508G>C (p.Glu170Gln)
c.472G>C (p.Glu158Gln)
n.733G>C
 dbSNP gnomAD v3 gnomAD v4
6g.24596184C>TCA362971521KIAA0319c.490G>A (p.Glu164Lys)
c.355G>A (p.Glu119Lys)
c.463G>A (p.Glu155Lys)
c.34G>A (p.Glu12Lys)
c.508G>A (p.Glu170Lys)
c.472G>A (p.Glu158Lys)
n.733G>A
6g.24596185C>ACA448959359KIAA0319c.489G>T (p.Leu163=)
c.354G>T (p.Leu118=)
c.462G>T (p.Leu154=)
c.33G>T (p.Leu11=)
c.507G>T (p.Leu169=)
c.471G>T (p.Leu157=)
n.732G>T
6g.24596185C>GCA448959360KIAA0319c.489G>C (p.Leu163=)
c.354G>C (p.Leu118=)
c.462G>C (p.Leu154=)
c.33G>C (p.Leu11=)
c.507G>C (p.Leu169=)
c.471G>C (p.Leu157=)
n.732G>C
6g.24596185C>TCA448959361KIAA0319c.489G>A (p.Leu163=)
c.354G>A (p.Leu118=)
c.462G>A (p.Leu154=)
c.33G>A (p.Leu11=)
c.507G>A (p.Leu169=)
c.471G>A (p.Leu157=)
n.732G>A
6g.24596186A>CCA362971526KIAA0319c.488T>G (p.Leu163Arg)
c.353T>G (p.Leu118Arg)
c.461T>G (p.Leu154Arg)
c.32T>G (p.Leu11Arg)
c.506T>G (p.Leu169Arg)
c.470T>G (p.Leu157Arg)
n.731T>G
6g.24596186A>GCA362971527KIAA0319c.488T>C (p.Leu163Pro)
c.353T>C (p.Leu118Pro)
c.461T>C (p.Leu154Pro)
c.32T>C (p.Leu11Pro)
c.506T>C (p.Leu169Pro)
c.470T>C (p.Leu157Pro)
n.731T>C
6g.24596186A>TCA362971524KIAA0319c.488T>A (p.Leu163Gln)
c.353T>A (p.Leu118Gln)
c.461T>A (p.Leu154Gln)
c.32T>A (p.Leu11Gln)
c.506T>A (p.Leu169Gln)
c.470T>A (p.Leu157Gln)
n.731T>A
6g.24596186_24596187delinsAGCA1616548831KIAA0319c.487_488delinsCT (p.Leu163=)
c.352_353delinsCT (p.Leu118=)
c.460_461delinsCT (p.Leu154=)
c.31_32delinsCT (p.Leu11=)
c.505_506delinsCT (p.Leu169=)
c.469_470delinsCT (p.Leu157=)
n.730_731delinsCT
6g.24596187delCA1616548832KIAA0319c.487del (p.Leu163TrpfsTer?)
c.352del (p.Leu118TrpfsTer?)
c.460del (p.Leu154TrpfsTer?)
c.31del (p.Leu11TrpfsTer?)
c.505del (p.Leu169TrpfsTer?)
c.469del (p.Leu157TrpfsTer?)
n.730del
 dbSNP
6g.24596187G>ACA448959362KIAA0319c.487C>T (p.Leu163=)
c.352C>T (p.Leu118=)
c.460C>T (p.Leu154=)
c.31C>T (p.Leu11=)
c.505C>T (p.Leu169=)
c.469C>T (p.Leu157=)
n.730C>T
6g.24596187G>CCA362971530KIAA0319c.487C>G (p.Leu163Val)
c.352C>G (p.Leu118Val)
c.460C>G (p.Leu154Val)
c.31C>G (p.Leu11Val)
c.505C>G (p.Leu169Val)
c.469C>G (p.Leu157Val)
n.730C>G
6g.24596187G>TCA362971532KIAA0319c.487C>A (p.Leu163Met)
c.352C>A (p.Leu118Met)
c.460C>A (p.Leu154Met)
c.31C>A (p.Leu11Met)
c.505C>A (p.Leu169Met)
c.469C>A (p.Leu157Met)
n.730C>A
6g.24596188C>ACA362971535KIAA0319c.486G>T (p.Glu162Asp)
c.351G>T (p.Glu117Asp)
c.459G>T (p.Glu153Asp)
c.30G>T (p.Glu10Asp)
c.504G>T (p.Glu168Asp)
c.468G>T (p.Glu156Asp)
n.729G>T
6g.24596188C=CA1616548833KIAA0319c.486G= (p.Glu162=)
c.351G= (p.Glu117=)
c.459G= (p.Glu153=)
c.30G= (p.Glu10=)
c.504G= (p.Glu168=)
c.468G= (p.Glu156=)
n.729G=
6g.24596188C>GCA362971537KIAA0319c.486G>C (p.Glu162Asp)
c.351G>C (p.Glu117Asp)
c.459G>C (p.Glu153Asp)
c.30G>C (p.Glu10Asp)
c.504G>C (p.Glu168Asp)
c.468G>C (p.Glu156Asp)
n.729G>C
6g.24596188C>TCA448959363KIAA0319c.486G>A (p.Glu162=)
c.351G>A (p.Glu117=)
c.459G>A (p.Glu153=)
c.30G>A (p.Glu10=)
c.504G>A (p.Glu168=)
c.468G>A (p.Glu156=)
n.729G>A
 dbSNP gnomAD v2 gnomAD v4
6g.24596189T>ACA362971539KIAA0319c.485A>T (p.Glu162Val)
c.350A>T (p.Glu117Val)
c.458A>T (p.Glu153Val)
c.29A>T (p.Glu10Val)
c.503A>T (p.Glu168Val)
c.467A>T (p.Glu156Val)
n.728A>T
6g.24596189T>CCA362971541KIAA0319c.485A>G (p.Glu162Gly)
c.350A>G (p.Glu117Gly)
c.458A>G (p.Glu153Gly)
c.29A>G (p.Glu10Gly)
c.503A>G (p.Glu168Gly)
c.467A>G (p.Glu156Gly)
n.728A>G
6g.24596189T>GCA362971543KIAA0319c.485A>C (p.Glu162Ala)
c.350A>C (p.Glu117Ala)
c.458A>C (p.Glu153Ala)
c.29A>C (p.Glu10Ala)
c.503A>C (p.Glu168Ala)
c.467A>C (p.Glu156Ala)
n.728A>C
6g.24596190C>ACA362971545KIAA0319c.484G>T (p.Glu162Ter)
c.349G>T (p.Glu117Ter)
c.457G>T (p.Glu153Ter)
c.28G>T (p.Glu10Ter)
c.502G>T (p.Glu168Ter)
c.466G>T (p.Glu156Ter)
n.727G>T
 dbSNP gnomAD v4
6g.24596190C=CA1616548834KIAA0319c.484G= (p.Glu162=)
c.349G= (p.Glu117=)
c.457G= (p.Glu153=)
c.28G= (p.Glu10=)
c.502G= (p.Glu168=)
c.466G= (p.Glu156=)
n.727G=
6g.24596190C>GCA362971547KIAA0319c.484G>C (p.Glu162Gln)
c.349G>C (p.Glu117Gln)
c.457G>C (p.Glu153Gln)
c.28G>C (p.Glu10Gln)
c.502G>C (p.Glu168Gln)
c.466G>C (p.Glu156Gln)
n.727G>C
6g.24596190C>TCA3657831KIAA0319c.484G>A (p.Glu162Lys)
c.349G>A (p.Glu117Lys)
c.457G>A (p.Glu153Lys)
c.28G>A (p.Glu10Lys)
c.502G>A (p.Glu168Lys)
c.466G>A (p.Glu156Lys)
n.727G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596191C>ACA448959364KIAA0319c.483G>T (p.Arg161=)
c.348G>T (p.Arg116=)
c.456G>T (p.Arg152=)
c.27G>T (p.Arg9=)
c.501G>T (p.Arg167=)
c.465G>T (p.Arg155=)
n.726G>T
6g.24596191C=CA1616548835KIAA0319c.483G= (p.Arg161=)
c.348G= (p.Arg116=)
c.456G= (p.Arg152=)
c.27G= (p.Arg9=)
c.501G= (p.Arg167=)
c.465G= (p.Arg155=)
n.726G=
6g.24596191C>GCA448959365KIAA0319c.483G>C (p.Arg161=)
c.348G>C (p.Arg116=)
c.456G>C (p.Arg152=)
c.27G>C (p.Arg9=)
c.501G>C (p.Arg167=)
c.465G>C (p.Arg155=)
n.726G>C
 dbSNP gnomAD v2 gnomAD v4
6g.24596191C>TCA448959366KIAA0319c.483G>A (p.Arg161=)
c.348G>A (p.Arg116=)
c.456G>A (p.Arg152=)
c.27G>A (p.Arg9=)
c.501G>A (p.Arg167=)
c.465G>A (p.Arg155=)
n.726G>A
6g.24596192C>ACA362971552KIAA0319c.482G>T (p.Arg161Leu)
c.347G>T (p.Arg116Leu)
c.455G>T (p.Arg152Leu)
c.26G>T (p.Arg9Leu)
c.500G>T (p.Arg167Leu)
c.464G>T (p.Arg155Leu)
n.725G>T
 gnomAD v4
6g.24596192C=CA1616548836KIAA0319c.482G= (p.Arg161=)
c.347G= (p.Arg116=)
c.455G= (p.Arg152=)
c.26G= (p.Arg9=)
c.500G= (p.Arg167=)
c.464G= (p.Arg155=)
n.725G=
6g.24596192C>GCA362971554KIAA0319c.482G>C (p.Arg161Pro)
c.347G>C (p.Arg116Pro)
c.455G>C (p.Arg152Pro)
c.26G>C (p.Arg9Pro)
c.500G>C (p.Arg167Pro)
c.464G>C (p.Arg155Pro)
n.725G>C
6g.24596192C>TCA3657832KIAA0319c.482G>A (p.Arg161Gln)
c.347G>A (p.Arg116Gln)
c.455G>A (p.Arg152Gln)
c.26G>A (p.Arg9Gln)
c.500G>A (p.Arg167Gln)
c.464G>A (p.Arg155Gln)
n.725G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596193G>ACA3657833KIAA0319c.481C>T (p.Arg161Trp)
c.346C>T (p.Arg116Trp)
c.454C>T (p.Arg152Trp)
c.25C>T (p.Arg9Trp)
c.499C>T (p.Arg167Trp)
c.463C>T (p.Arg155Trp)
n.724C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596193G>CCA3657834KIAA0319c.481C>G (p.Arg161Gly)
c.346C>G (p.Arg116Gly)
c.454C>G (p.Arg152Gly)
c.25C>G (p.Arg9Gly)
c.499C>G (p.Arg167Gly)
c.463C>G (p.Arg155Gly)
n.724C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596193G=CA1616548837KIAA0319c.481C= (p.Arg161=)
c.346C= (p.Arg116=)
c.454C= (p.Arg152=)
c.25C= (p.Arg9=)
c.499C= (p.Arg167=)
c.463C= (p.Arg155=)
n.724C=
6g.24596193G>TCA448959367KIAA0319c.481C>A (p.Arg161=)
c.346C>A (p.Arg116=)
c.454C>A (p.Arg152=)
c.25C>A (p.Arg9=)
c.499C>A (p.Arg167=)
c.463C>A (p.Arg155=)
n.724C>A
6g.24596194G>ACA448959368KIAA0319c.480C>T (p.Tyr160=)
c.345C>T (p.Tyr115=)
c.453C>T (p.Tyr151=)
c.24C>T (p.Tyr8=)
c.498C>T (p.Tyr166=)
c.462C>T (p.Tyr154=)
n.723C>T
 gnomAD v4
6g.24596194G>CCA362971561KIAA0319c.480C>G (p.Tyr160Ter)
c.345C>G (p.Tyr115Ter)
c.453C>G (p.Tyr151Ter)
c.24C>G (p.Tyr8Ter)
c.498C>G (p.Tyr166Ter)
c.462C>G (p.Tyr154Ter)
n.723C>G
6g.24596194G>TCA362971563KIAA0319c.480C>A (p.Tyr160Ter)
c.345C>A (p.Tyr115Ter)
c.453C>A (p.Tyr151Ter)
c.24C>A (p.Tyr8Ter)
c.498C>A (p.Tyr166Ter)
c.462C>A (p.Tyr154Ter)
n.723C>A
6g.24596195T>ACA362971566KIAA0319c.479A>T (p.Tyr160Phe)
c.344A>T (p.Tyr115Phe)
c.452A>T (p.Tyr151Phe)
c.23A>T (p.Tyr8Phe)
c.497A>T (p.Tyr166Phe)
c.461A>T (p.Tyr154Phe)
n.722A>T
6g.24596195T>CCA362971568KIAA0319c.479A>G (p.Tyr160Cys)
c.344A>G (p.Tyr115Cys)
c.452A>G (p.Tyr151Cys)
c.23A>G (p.Tyr8Cys)
c.497A>G (p.Tyr166Cys)
c.461A>G (p.Tyr154Cys)
n.722A>G
 gnomAD v4
6g.24596195T>GCA362971569KIAA0319c.479A>C (p.Tyr160Ser)
c.344A>C (p.Tyr115Ser)
c.452A>C (p.Tyr151Ser)
c.23A>C (p.Tyr8Ser)
c.497A>C (p.Tyr166Ser)
c.461A>C (p.Tyr154Ser)
n.722A>C
6g.24596196A>CCA362971571KIAA0319c.478T>G (p.Tyr160Asp)
c.343T>G (p.Tyr115Asp)
c.451T>G (p.Tyr151Asp)
c.22T>G (p.Tyr8Asp)
c.496T>G (p.Tyr166Asp)
c.460T>G (p.Tyr154Asp)
n.721T>G
6g.24596196A>GCA362971573KIAA0319c.478T>C (p.Tyr160His)
c.343T>C (p.Tyr115His)
c.451T>C (p.Tyr151His)
c.22T>C (p.Tyr8His)
c.496T>C (p.Tyr166His)
c.460T>C (p.Tyr154His)
n.721T>C
6g.24596196A>TCA362971575KIAA0319c.478T>A (p.Tyr160Asn)
c.343T>A (p.Tyr115Asn)
c.451T>A (p.Tyr151Asn)
c.22T>A (p.Tyr8Asn)
c.496T>A (p.Tyr166Asn)
c.460T>A (p.Tyr154Asn)
n.721T>A
6g.24596197G>ACA448959369KIAA0319c.477C>T (p.Asp159=)
c.342C>T (p.Asp114=)
c.450C>T (p.Asp150=)
c.21C>T (p.Asp7=)
c.495C>T (p.Asp165=)
c.459C>T (p.Asp153=)
n.720C>T
6g.24596197G>CCA362971577KIAA0319c.477C>G (p.Asp159Glu)
c.342C>G (p.Asp114Glu)
c.450C>G (p.Asp150Glu)
c.21C>G (p.Asp7Glu)
c.495C>G (p.Asp165Glu)
c.459C>G (p.Asp153Glu)
n.720C>G
 gnomAD v4
6g.24596197G>TCA362971580KIAA0319c.477C>A (p.Asp159Glu)
c.342C>A (p.Asp114Glu)
c.450C>A (p.Asp150Glu)
c.21C>A (p.Asp7Glu)
c.495C>A (p.Asp165Glu)
c.459C>A (p.Asp153Glu)
n.720C>A
6g.24596198T>ACA362971582KIAA0319c.476A>T (p.Asp159Val)
c.341A>T (p.Asp114Val)
c.449A>T (p.Asp150Val)
c.20A>T (p.Asp7Val)
c.494A>T (p.Asp165Val)
c.458A>T (p.Asp153Val)
n.719A>T
6g.24596198T>CCA362971583KIAA0319c.476A>G (p.Asp159Gly)
c.341A>G (p.Asp114Gly)
c.449A>G (p.Asp150Gly)
c.20A>G (p.Asp7Gly)
c.494A>G (p.Asp165Gly)
c.458A>G (p.Asp153Gly)
n.719A>G
6g.24596198T>GCA362971584KIAA0319c.476A>C (p.Asp159Ala)
c.341A>C (p.Asp114Ala)
c.449A>C (p.Asp150Ala)
c.20A>C (p.Asp7Ala)
c.494A>C (p.Asp165Ala)
c.458A>C (p.Asp153Ala)
n.719A>C
6g.24596199C>ACA362971587KIAA0319c.475G>T (p.Asp159Tyr)
c.340G>T (p.Asp114Tyr)
c.448G>T (p.Asp150Tyr)
c.19G>T (p.Asp7Tyr)
c.493G>T (p.Asp165Tyr)
c.457G>T (p.Asp153Tyr)
n.718G>T
6g.24596199C>GCA362971586KIAA0319c.475G>C (p.Asp159His)
c.340G>C (p.Asp114His)
c.448G>C (p.Asp150His)
c.19G>C (p.Asp7His)
c.493G>C (p.Asp165His)
c.457G>C (p.Asp153His)
n.718G>C
6g.24596199C>TCA362971585KIAA0319c.475G>A (p.Asp159Asn)
c.340G>A (p.Asp114Asn)
c.448G>A (p.Asp150Asn)
c.19G>A (p.Asp7Asn)
c.493G>A (p.Asp165Asn)
c.457G>A (p.Asp153Asn)
n.718G>A
6g.24596200A>CCA362971588KIAA0319c.474T>G (p.Asp158Glu)
c.339T>G (p.Asp113Glu)
c.447T>G (p.Asp149Glu)
c.18T>G (p.Asp6Glu)
c.492T>G (p.Asp164Glu)
c.456T>G (p.Asp152Glu)
n.717T>G
6g.24596200A>GCA448959370KIAA0319c.474T>C (p.Asp158=)
c.339T>C (p.Asp113=)
c.447T>C (p.Asp149=)
c.18T>C (p.Asp6=)
c.492T>C (p.Asp164=)
c.456T>C (p.Asp152=)
n.717T>C
 gnomAD v4
6g.24596200A>TCA362971589KIAA0319c.474T>A (p.Asp158Glu)
c.339T>A (p.Asp113Glu)
c.447T>A (p.Asp149Glu)
c.18T>A (p.Asp6Glu)
c.492T>A (p.Asp164Glu)
c.456T>A (p.Asp152Glu)
n.717T>A
6g.24596201T>ACA362971590KIAA0319c.473A>T (p.Asp158Val)
c.338A>T (p.Asp113Val)
c.446A>T (p.Asp149Val)
c.17A>T (p.Asp6Val)
c.491A>T (p.Asp164Val)
c.455A>T (p.Asp152Val)
n.716A>T
6g.24596201T>CCA362971591KIAA0319c.473A>G (p.Asp158Gly)
c.338A>G (p.Asp113Gly)
c.446A>G (p.Asp149Gly)
c.17A>G (p.Asp6Gly)
c.491A>G (p.Asp164Gly)
c.455A>G (p.Asp152Gly)
n.716A>G
 gnomAD v4
6g.24596201T>GCA362971592KIAA0319c.473A>C (p.Asp158Ala)
c.338A>C (p.Asp113Ala)
c.446A>C (p.Asp149Ala)
c.17A>C (p.Asp6Ala)
c.491A>C (p.Asp164Ala)
c.455A>C (p.Asp152Ala)
n.716A>C
6g.24596202C>ACA362971594KIAA0319c.472G>T (p.Asp158Tyr)
c.337G>T (p.Asp113Tyr)
c.445G>T (p.Asp149Tyr)
c.16G>T (p.Asp6Tyr)
c.490G>T (p.Asp164Tyr)
c.454G>T (p.Asp152Tyr)
n.715G>T
6g.24596202C=CA1616548838KIAA0319c.472G= (p.Asp158=)
c.337G= (p.Asp113=)
c.445G= (p.Asp149=)
c.16G= (p.Asp6=)
c.490G= (p.Asp164=)
c.454G= (p.Asp152=)
n.715G=
6g.24596202C>GCA362971596KIAA0319c.472G>C (p.Asp158His)
c.337G>C (p.Asp113His)
c.445G>C (p.Asp149His)
c.16G>C (p.Asp6His)
c.490G>C (p.Asp164His)
c.454G>C (p.Asp152His)
n.715G>C
6g.24596202C>TCA362971598KIAA0319c.472G>A (p.Asp158Asn)
c.337G>A (p.Asp113Asn)
c.445G>A (p.Asp149Asn)
c.16G>A (p.Asp6Asn)
c.490G>A (p.Asp164Asn)
c.454G>A (p.Asp152Asn)
n.715G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24596203T>ACA448959373KIAA0319c.471A>T (p.Ser157=)
c.336A>T (p.Ser112=)
c.444A>T (p.Ser148=)
c.15A>T (p.Ser5=)
c.489A>T (p.Ser163=)
c.453A>T (p.Ser151=)
n.714A>T
6g.24596203T>CCA448959371KIAA0319c.471A>G (p.Ser157=)
c.336A>G (p.Ser112=)
c.444A>G (p.Ser148=)
c.15A>G (p.Ser5=)
c.489A>G (p.Ser163=)
c.453A>G (p.Ser151=)
n.714A>G
6g.24596203T>GCA448959372KIAA0319c.471A>C (p.Ser157=)
c.336A>C (p.Ser112=)
c.444A>C (p.Ser148=)
c.15A>C (p.Ser5=)
c.489A>C (p.Ser163=)
c.453A>C (p.Ser151=)
n.714A>C
6g.24596204G>ACA362971599KIAA0319c.470C>T (p.Ser157Leu)
c.335C>T (p.Ser112Leu)
c.443C>T (p.Ser148Leu)
c.14C>T (p.Ser5Leu)
c.488C>T (p.Ser163Leu)
c.452C>T (p.Ser151Leu)
n.713C>T
 gnomAD v4
6g.24596204G>CCA362971601KIAA0319c.470C>G (p.Ser157Ter)
c.335C>G (p.Ser112Ter)
c.443C>G (p.Ser148Ter)
c.14C>G (p.Ser5Ter)
c.488C>G (p.Ser163Ter)
c.452C>G (p.Ser151Ter)
n.713C>G
6g.24596204G=CA1616548839KIAA0319c.470C= (p.Ser157=)
c.335C= (p.Ser112=)
c.443C= (p.Ser148=)
c.14C= (p.Ser5=)
c.488C= (p.Ser163=)
c.452C= (p.Ser151=)
n.713C=
6g.24596204G>TCA362971603KIAA0319c.470C>A (p.Ser157Ter)
c.335C>A (p.Ser112Ter)
c.443C>A (p.Ser148Ter)
c.14C>A (p.Ser5Ter)
c.488C>A (p.Ser163Ter)
c.452C>A (p.Ser151Ter)
n.713C>A
 dbSNP gnomAD v4
6g.24596205A=CA1616548840KIAA0319c.469T= (p.Ser157=)
c.334T= (p.Ser112=)
c.442T= (p.Ser148=)
c.13T= (p.Ser5=)
c.487T= (p.Ser163=)
c.451T= (p.Ser151=)
n.712T=
6g.24596205A>CCA3657835KIAA0319c.469T>G (p.Ser157Ala)
c.334T>G (p.Ser112Ala)
c.442T>G (p.Ser148Ala)
c.13T>G (p.Ser5Ala)
c.487T>G (p.Ser163Ala)
c.451T>G (p.Ser151Ala)
n.712T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596205A>GCA362971607KIAA0319c.469T>C (p.Ser157Pro)
c.334T>C (p.Ser112Pro)
c.442T>C (p.Ser148Pro)
c.13T>C (p.Ser5Pro)
c.487T>C (p.Ser163Pro)
c.451T>C (p.Ser151Pro)
n.712T>C
6g.24596205A>TCA362971609KIAA0319c.469T>A (p.Ser157Thr)
c.334T>A (p.Ser112Thr)
c.442T>A (p.Ser148Thr)
c.13T>A (p.Ser5Thr)
c.487T>A (p.Ser163Thr)
c.451T>A (p.Ser151Thr)
n.712T>A
 dbSNP
6g.24596206G>ACA448959374KIAA0319c.468C>T (p.Tyr156=)
c.333C>T (p.Tyr111=)
c.441C>T (p.Tyr147=)
c.12C>T (p.Tyr4=)
c.486C>T (p.Tyr162=)
c.450C>T (p.Tyr150=)
n.711C>T
 dbSNP gnomAD v2 gnomAD v4
6g.24596206G>CCA362971612KIAA0319c.468C>G (p.Tyr156Ter)
c.333C>G (p.Tyr111Ter)
c.441C>G (p.Tyr147Ter)
c.12C>G (p.Tyr4Ter)
c.486C>G (p.Tyr162Ter)
c.450C>G (p.Tyr150Ter)
n.711C>G
6g.24596206G=CA1616548841KIAA0319c.468C= (p.Tyr156=)
c.333C= (p.Tyr111=)
c.441C= (p.Tyr147=)
c.12C= (p.Tyr4=)
c.486C= (p.Tyr162=)
c.450C= (p.Tyr150=)
n.711C=
6g.24596206G>TCA362971611KIAA0319c.468C>A (p.Tyr156Ter)
c.333C>A (p.Tyr111Ter)
c.441C>A (p.Tyr147Ter)
c.12C>A (p.Tyr4Ter)
c.486C>A (p.Tyr162Ter)
c.450C>A (p.Tyr150Ter)
n.711C>A
6g.24596207T>ACA362971614KIAA0319c.467A>T (p.Tyr156Phe)
c.332A>T (p.Tyr111Phe)
c.440A>T (p.Tyr147Phe)
c.11A>T (p.Tyr4Phe)
c.485A>T (p.Tyr162Phe)
c.449A>T (p.Tyr150Phe)
n.710A>T
 gnomAD v4
6g.24596207T>CCA362971616KIAA0319c.467A>G (p.Tyr156Cys)
c.332A>G (p.Tyr111Cys)
c.440A>G (p.Tyr147Cys)
c.11A>G (p.Tyr4Cys)
c.485A>G (p.Tyr162Cys)
c.449A>G (p.Tyr150Cys)
n.710A>G
 dbSNP gnomAD v2 gnomAD v4
6g.24596207T>GCA362971618KIAA0319c.467A>C (p.Tyr156Ser)
c.332A>C (p.Tyr111Ser)
c.440A>C (p.Tyr147Ser)
c.11A>C (p.Tyr4Ser)
c.485A>C (p.Tyr162Ser)
c.449A>C (p.Tyr150Ser)
n.710A>C
6g.24596207T=CA1616548842KIAA0319c.467A= (p.Tyr156=)
c.332A= (p.Tyr111=)
c.440A= (p.Tyr147=)
c.11A= (p.Tyr4=)
c.485A= (p.Tyr162=)
c.449A= (p.Tyr150=)
n.710A=
6g.24596208A>CCA362971620KIAA0319c.466T>G (p.Tyr156Asp)
c.331T>G (p.Tyr111Asp)
c.439T>G (p.Tyr147Asp)
c.10T>G (p.Tyr4Asp)
c.484T>G (p.Tyr162Asp)
c.448T>G (p.Tyr150Asp)
n.709T>G
6g.24596208A>GCA362971622KIAA0319c.466T>C (p.Tyr156His)
c.331T>C (p.Tyr111His)
c.439T>C (p.Tyr147His)
c.10T>C (p.Tyr4His)
c.484T>C (p.Tyr162His)
c.448T>C (p.Tyr150His)
n.709T>C
6g.24596208A>TCA362971624KIAA0319c.466T>A (p.Tyr156Asn)
c.331T>A (p.Tyr111Asn)
c.439T>A (p.Tyr147Asn)
c.10T>A (p.Tyr4Asn)
c.484T>A (p.Tyr162Asn)
c.448T>A (p.Tyr150Asn)
n.709T>A
6g.24596209C>ACA362971628KIAA0319c.465G>T (p.Glu155Asp)
c.330G>T (p.Glu110Asp)
c.438G>T (p.Glu146Asp)
c.9G>T (p.Glu3Asp)
c.483G>T (p.Glu161Asp)
c.447G>T (p.Glu149Asp)
n.708G>T
6g.24596209C=CA1616548843KIAA0319c.465G= (p.Glu155=)
c.330G= (p.Glu110=)
c.438G= (p.Glu146=)
c.9G= (p.Glu3=)
c.483G= (p.Glu161=)
c.447G= (p.Glu149=)
n.708G=
6g.24596209C>GCA3657836KIAA0319c.465G>C (p.Glu155Asp)
c.330G>C (p.Glu110Asp)
c.438G>C (p.Glu146Asp)
c.9G>C (p.Glu3Asp)
c.483G>C (p.Glu161Asp)
c.447G>C (p.Glu149Asp)
n.708G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596209C>TCA448959375KIAA0319c.465G>A (p.Glu155=)
c.330G>A (p.Glu110=)
c.438G>A (p.Glu146=)
c.9G>A (p.Glu3=)
c.483G>A (p.Glu161=)
c.447G>A (p.Glu149=)
n.708G>A
 dbSNP
6g.24596210T>ACA362971630KIAA0319c.464A>T (p.Glu155Val)
c.329A>T (p.Glu110Val)
c.437A>T (p.Glu146Val)
c.8A>T (p.Glu3Val)
c.482A>T (p.Glu161Val)
c.446A>T (p.Glu149Val)
n.707A>T
 dbSNP gnomAD v4
6g.24596210T>CCA362971632KIAA0319c.464A>G (p.Glu155Gly)
c.329A>G (p.Glu110Gly)
c.437A>G (p.Glu146Gly)
c.8A>G (p.Glu3Gly)
c.482A>G (p.Glu161Gly)
c.446A>G (p.Glu149Gly)
n.707A>G
6g.24596210T>GCA362971634KIAA0319c.464A>C (p.Glu155Ala)
c.329A>C (p.Glu110Ala)
c.437A>C (p.Glu146Ala)
c.8A>C (p.Glu3Ala)
c.482A>C (p.Glu161Ala)
c.446A>C (p.Glu149Ala)
n.707A>C
6g.24596210_24596212delinsTCACA1616548845KIAA0319c.462_464delinsTGA (p.Ser154=)
c.327_329delinsTGA (p.Ser109=)
c.435_437delinsTGA (p.Ser145=)
c.6_8delinsTGA (p.Ser2=)
c.480_482delinsTGA (p.Ser160=)
c.444_446delinsTGA (p.Ser148=)
n.705_707delinsTGA
6g.24596211C>ACA362971637KIAA0319c.463G>T (p.Glu155Ter)
c.328G>T (p.Glu110Ter)
c.436G>T (p.Glu146Ter)
c.7G>T (p.Glu3Ter)
c.481G>T (p.Glu161Ter)
c.445G>T (p.Glu149Ter)
n.706G>T
6g.24596211C>GCA362971639KIAA0319c.463G>C (p.Glu155Gln)
c.328G>C (p.Glu110Gln)
c.436G>C (p.Glu146Gln)
c.7G>C (p.Glu3Gln)
c.481G>C (p.Glu161Gln)
c.445G>C (p.Glu149Gln)
n.706G>C
6g.24596211C>TCA362971640KIAA0319c.463G>A (p.Glu155Lys)
c.328G>A (p.Glu110Lys)
c.436G>A (p.Glu146Lys)
c.7G>A (p.Glu3Lys)
c.481G>A (p.Glu161Lys)
c.445G>A (p.Glu149Lys)
n.706G>A
6g.24596211_24596212delCA1616548846KIAA0319c.462_463del (p.Glu155ValfsTer4)
c.327_328del (p.Glu110ValfsTer4)
c.435_436del (p.Glu146ValfsTer4)
c.6_7del (p.Glu3ValfsTer4)
c.480_481del (p.Glu161ValfsTer4)
c.444_445del (p.Glu149ValfsTer4)
n.705_706del
 dbSNP
6g.24596212A>CCA448959376KIAA0319c.462T>G (p.Ser154=)
c.327T>G (p.Ser109=)
c.435T>G (p.Ser145=)
c.6T>G (p.Ser2=)
c.480T>G (p.Ser160=)
c.444T>G (p.Ser148=)
n.705T>G
6g.24596212A>GCA448959377KIAA0319c.462T>C (p.Ser154=)
c.327T>C (p.Ser109=)
c.435T>C (p.Ser145=)
c.6T>C (p.Ser2=)
c.480T>C (p.Ser160=)
c.444T>C (p.Ser148=)
n.705T>C
6g.24596212A>TCA448959378KIAA0319c.462T>A (p.Ser154=)
c.327T>A (p.Ser109=)
c.435T>A (p.Ser145=)
c.6T>A (p.Ser2=)
c.480T>A (p.Ser160=)
c.444T>A (p.Ser148=)
n.705T>A
6g.24596213G>ACA362971641KIAA0319c.461C>T (p.Ser154Phe)
c.326C>T (p.Ser109Phe)
c.434C>T (p.Ser145Phe)
c.5C>T (p.Ser2Phe)
c.479C>T (p.Ser160Phe)
c.443C>T (p.Ser148Phe)
n.704C>T
6g.24596213G>CCA362971643KIAA0319c.461C>G (p.Ser154Cys)
c.326C>G (p.Ser109Cys)
c.434C>G (p.Ser145Cys)
c.5C>G (p.Ser2Cys)
c.479C>G (p.Ser160Cys)
c.443C>G (p.Ser148Cys)
n.704C>G
6g.24596213G>TCA362971642KIAA0319c.461C>A (p.Ser154Tyr)
c.326C>A (p.Ser109Tyr)
c.434C>A (p.Ser145Tyr)
c.5C>A (p.Ser2Tyr)
c.479C>A (p.Ser160Tyr)
c.443C>A (p.Ser148Tyr)
n.704C>A
6g.24596214A>CCA362971645KIAA0319c.460T>G (p.Ser154Ala)
c.325T>G (p.Ser109Ala)
c.433T>G (p.Ser145Ala)
c.4T>G (p.Ser2Ala)
c.478T>G (p.Ser160Ala)
c.442T>G (p.Ser148Ala)
n.703T>G
6g.24596214A>GCA362971646KIAA0319c.460T>C (p.Ser154Pro)
c.325T>C (p.Ser109Pro)
c.433T>C (p.Ser145Pro)
c.4T>C (p.Ser2Pro)
c.478T>C (p.Ser160Pro)
c.442T>C (p.Ser148Pro)
n.703T>C
6g.24596214A>TCA362971648KIAA0319c.460T>A (p.Ser154Thr)
c.325T>A (p.Ser109Thr)
c.433T>A (p.Ser145Thr)
c.4T>A (p.Ser2Thr)
c.478T>A (p.Ser160Thr)
c.442T>A (p.Ser148Thr)
n.703T>A
6g.24596215C>ACA362971649KIAA0319c.459G>T (p.Met153Ile)
c.324G>T (p.Met108Ile)
c.432G>T (p.Met144Ile)
c.3G>T (p.Met1Ile)
c.477G>T (p.Met159Ile)
c.441G>T (p.Met147Ile)
n.702G>T
6g.24596215C=CA1616548850KIAA0319c.459G= (p.Met153=)
c.324G= (p.Met108=)
c.432G= (p.Met144=)
c.3G= (p.Met1=)
c.477G= (p.Met159=)
c.441G= (p.Met147=)
n.702G=
6g.24596215C>GCA362971650KIAA0319c.459G>C (p.Met153Ile)
c.324G>C (p.Met108Ile)
c.432G>C (p.Met144Ile)
c.3G>C (p.Met1Ile)
c.477G>C (p.Met159Ile)
c.441G>C (p.Met147Ile)
n.702G>C
6g.24596215C>TCA362971651KIAA0319c.459G>A (p.Met153Ile)
c.324G>A (p.Met108Ile)
c.432G>A (p.Met144Ile)
c.3G>A (p.Met1Ile)
c.477G>A (p.Met159Ile)
c.441G>A (p.Met147Ile)
n.702G>A
 dbSNP gnomAD v2 gnomAD v4
6g.24596216A=CA1616548853KIAA0319c.458T= (p.Met153=)
c.323T= (p.Met108=)
c.431T= (p.Met144=)
c.2T= (p.Met1=)
c.476T= (p.Met159=)
c.440T= (p.Met147=)
n.701T=
6g.24596216A>CCA362971652KIAA0319c.458T>G (p.Met153Arg)
c.323T>G (p.Met108Arg)
c.431T>G (p.Met144Arg)
c.2T>G (p.Met1Arg)
c.476T>G (p.Met159Arg)
c.440T>G (p.Met147Arg)
n.701T>G
6g.24596216A>GCA362971654KIAA0319c.458T>C (p.Met153Thr)
c.323T>C (p.Met108Thr)
c.431T>C (p.Met144Thr)
c.2T>C (p.Met1Thr)
c.476T>C (p.Met159Thr)
c.440T>C (p.Met147Thr)
n.701T>C
 gnomAD v4
6g.24596216A>TCA362971656KIAA0319c.458T>A (p.Met153Lys)
c.323T>A (p.Met108Lys)
c.431T>A (p.Met144Lys)
c.2T>A (p.Met1Lys)
c.476T>A (p.Met159Lys)
c.440T>A (p.Met147Lys)
n.701T>A
 dbSNP gnomAD v4
6g.24596217T>ACA362971658KIAA0319c.457A>T (p.Met153Leu)
c.322A>T (p.Met108Leu)
c.430A>T (p.Met144Leu)
c.1A>T (p.Met1Leu)
c.475A>T (p.Met159Leu)
c.439A>T (p.Met147Leu)
n.700A>T
6g.24596217T>CCA362971659KIAA0319c.457A>G (p.Met153Val)
c.322A>G (p.Met108Val)
c.430A>G (p.Met144Val)
c.1A>G (p.Met1Val)
c.475A>G (p.Met159Val)
c.439A>G (p.Met147Val)
n.700A>G
 gnomAD v4
6g.24596217T>GCA362971662KIAA0319c.457A>C (p.Met153Leu)
c.322A>C (p.Met108Leu)
c.430A>C (p.Met144Leu)
c.1A>C (p.Met1Leu)
c.475A>C (p.Met159Leu)
c.439A>C (p.Met147Leu)
n.700A>C
6g.24596217dupCA2842204255KIAA0319c.457dup (p.Met153AsnfsTer3)
c.322dup (p.Met108AsnfsTer3)
c.430dup (p.Met144AsnfsTer3)
c.1dup (p.Met1AsnfsTer3)
c.475dup (p.Met159AsnfsTer3)
c.439dup (p.Met147AsnfsTer3)
n.700dup
6g.24596217_24596220delinsTCTCCA1616548856KIAA0319c.454_457delinsGAGA (p.Glu152=)
c.319_322delinsGAGA (p.Glu107=)
c.427_430delinsGAGA (p.Glu143=)
c.-3_1delinsGAGA
c.472_475delinsGAGA (p.Glu158=)
c.436_439delinsGAGA (p.Glu146=)
n.697_700delinsGAGA
6g.24596218C>ACA362971672KIAA0319c.456G>T (p.Glu152Asp)
c.321G>T (p.Glu107Asp)
c.429G>T (p.Glu143Asp)
c.-1G>T (n.-1G>T)
c.474G>T (p.Glu158Asp)
c.438G>T (p.Glu146Asp)
n.699G>T
6g.24596218C>GCA362971667KIAA0319c.456G>C (p.Glu152Asp)
c.321G>C (p.Glu107Asp)
c.429G>C (p.Glu143Asp)
c.-1G>C (n.-1G>C)
c.474G>C (p.Glu158Asp)
c.438G>C (p.Glu146Asp)
n.699G>C
 COSMIC
6g.24596218C>TCA448959379KIAA0319c.456G>A (p.Glu152=)
c.321G>A (p.Glu107=)
c.429G>A (p.Glu143=)
c.-1G>A (n.-1G>A)
c.474G>A (p.Glu158=)
c.438G>A (p.Glu146=)
n.699G>A
6g.24596221_24596223delCA3657837KIAA0319c.454_456del (p.Glu152del)
c.319_321del (p.Glu107del)
c.427_429del (p.Glu143del)
c.-3_-1del (n.-3_-1del)
c.472_474del (p.Glu158del)
c.436_438del (p.Glu146del)
n.697_699del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596219T>ACA362971674KIAA0319c.455A>T (p.Glu152Val)
c.320A>T (p.Glu107Val)
c.428A>T (p.Glu143Val)
c.-2A>T (n.-2A>T)
c.473A>T (p.Glu158Val)
c.437A>T (p.Glu146Val)
n.698A>T
6g.24596219T>CCA362971677KIAA0319c.455A>G (p.Glu152Gly)
c.320A>G (p.Glu107Gly)
c.428A>G (p.Glu143Gly)
c.-2A>G (n.-2A>G)
c.473A>G (p.Glu158Gly)
c.437A>G (p.Glu146Gly)
n.698A>G
6g.24596219T>GCA362971680KIAA0319c.455A>C (p.Glu152Ala)
c.320A>C (p.Glu107Ala)
c.428A>C (p.Glu143Ala)
c.-2A>C (n.-2A>C)
c.473A>C (p.Glu158Ala)
c.437A>C (p.Glu146Ala)
n.698A>C
6g.24596220C>ACA362971687KIAA0319c.454G>T (p.Glu152Ter)
c.319G>T (p.Glu107Ter)
c.427G>T (p.Glu143Ter)
c.-3G>T (n.-3G>T)
c.472G>T (p.Glu158Ter)
c.436G>T (p.Glu146Ter)
n.697G>T
 COSMIC
6g.24596220C>GCA362971689KIAA0319c.454G>C (p.Glu152Gln)
c.319G>C (p.Glu107Gln)
c.427G>C (p.Glu143Gln)
c.-3G>C (n.-3G>C)
c.472G>C (p.Glu158Gln)
c.436G>C (p.Glu146Gln)
n.697G>C
6g.24596220C>TCA362971691KIAA0319c.454G>A (p.Glu152Lys)
c.319G>A (p.Glu107Lys)
c.427G>A (p.Glu143Lys)
c.-3G>A (n.-3G>A)
c.472G>A (p.Glu158Lys)
c.436G>A (p.Glu146Lys)
n.697G>A
 COSMIC
6g.24596221C>ACA362971693KIAA0319c.453G>T (p.Glu151Asp)
c.318G>T (p.Glu106Asp)
c.426G>T (p.Glu142Asp)
c.-4G>T (n.-4G>T)
c.471G>T (p.Glu157Asp)
c.435G>T (p.Glu145Asp)
n.696G>T
 dbSNP gnomAD v3 gnomAD v4
6g.24596221C=CA1616548865KIAA0319c.453G= (p.Glu151=)
c.318G= (p.Glu106=)
c.426G= (p.Glu142=)
c.-4G= (n.-4G=)
c.471G= (p.Glu157=)
c.435G= (p.Glu145=)
n.696G=
6g.24596221C>GCA362971695KIAA0319c.453G>C (p.Glu151Asp)
c.318G>C (p.Glu106Asp)
c.426G>C (p.Glu142Asp)
c.-4G>C (n.-4G>C)
c.471G>C (p.Glu157Asp)
c.435G>C (p.Glu145Asp)
n.696G>C
6g.24596221C>TCA136131462KIAA0319c.453G>A (p.Glu151=)
c.318G>A (p.Glu106=)
c.426G>A (p.Glu142=)
c.-4G>A (n.-4G>A)
c.471G>A (p.Glu157=)
c.435G>A (p.Glu145=)
n.696G>A
 dbSNP gnomAD v3 gnomAD v4
6g.24596222T>ACA362971696KIAA0319c.452A>T (p.Glu151Val)
c.317A>T (p.Glu106Val)
c.425A>T (p.Glu142Val)
c.-5A>T (n.-5A>T)
c.470A>T (p.Glu157Val)
c.434A>T (p.Glu145Val)
n.695A>T
6g.24596222T>CCA362971700KIAA0319c.452A>G (p.Glu151Gly)
c.317A>G (p.Glu106Gly)
c.425A>G (p.Glu142Gly)
c.-5A>G (n.-5A>G)
c.470A>G (p.Glu157Gly)
c.434A>G (p.Glu145Gly)
n.695A>G
6g.24596222T>GCA362971707KIAA0319c.452A>C (p.Glu151Ala)
c.317A>C (p.Glu106Ala)
c.425A>C (p.Glu142Ala)
c.-5A>C (n.-5A>C)
c.470A>C (p.Glu157Ala)
c.434A>C (p.Glu145Ala)
n.695A>C
6g.24596223C>ACA3657838KIAA0319c.451G>T (p.Glu151Ter)
c.316G>T (p.Glu106Ter)
c.424G>T (p.Glu142Ter)
c.-6G>T (n.-6G>T)
c.469G>T (p.Glu157Ter)
c.433G>T (p.Glu145Ter)
n.694G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596223C=CA1616548872KIAA0319c.451G= (p.Glu151=)
c.316G= (p.Glu106=)
c.424G= (p.Glu142=)
c.-6G= (n.-6G=)
c.469G= (p.Glu157=)
c.433G= (p.Glu145=)
n.694G=
6g.24596223C>GCA362971718KIAA0319c.451G>C (p.Glu151Gln)
c.316G>C (p.Glu106Gln)
c.424G>C (p.Glu142Gln)
c.-6G>C (n.-6G>C)
c.469G>C (p.Glu157Gln)
c.433G>C (p.Glu145Gln)
n.694G>C
6g.24596223C>TCA3657839KIAA0319c.451G>A (p.Glu151Lys)
c.316G>A (p.Glu106Lys)
c.424G>A (p.Glu142Lys)
c.-6G>A (n.-6G>A)
c.469G>A (p.Glu157Lys)
c.433G>A (p.Glu145Lys)
n.694G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596224T>ACA448959380KIAA0319c.450A>T (p.Leu150=)
c.315A>T (p.Leu105=)
c.423A>T (p.Leu141=)
c.-7A>T (n.-7A>T)
c.468A>T (p.Leu156=)
c.432A>T (p.Leu144=)
n.693A>T
6g.24596224T>CCA448959381KIAA0319c.450A>G (p.Leu150=)
c.315A>G (p.Leu105=)
c.423A>G (p.Leu141=)
c.-7A>G (n.-7A>G)
c.468A>G (p.Leu156=)
c.432A>G (p.Leu144=)
n.693A>G
6g.24596224T>GCA448959382KIAA0319c.450A>C (p.Leu150=)
c.315A>C (p.Leu105=)
c.423A>C (p.Leu141=)
c.-7A>C (n.-7A>C)
c.468A>C (p.Leu156=)
c.432A>C (p.Leu144=)
n.693A>C
6g.24596225A>CCA362971721KIAA0319c.449T>G (p.Leu150Arg)
c.314T>G (p.Leu105Arg)
c.422T>G (p.Leu141Arg)
c.-8T>G (n.-8T>G)
c.467T>G (p.Leu156Arg)
c.431T>G (p.Leu144Arg)
n.692T>G
6g.24596225A>GCA362971728KIAA0319c.449T>C (p.Leu150Pro)
c.314T>C (p.Leu105Pro)
c.422T>C (p.Leu141Pro)
c.-8T>C (n.-8T>C)
c.467T>C (p.Leu156Pro)
c.431T>C (p.Leu144Pro)
n.692T>C
 COSMIC
6g.24596225A>TCA362971724KIAA0319c.449T>A (p.Leu150Gln)
c.314T>A (p.Leu105Gln)
c.422T>A (p.Leu141Gln)
c.-8T>A (n.-8T>A)
c.467T>A (p.Leu156Gln)
c.431T>A (p.Leu144Gln)
n.692T>A
6g.24596226G>ACA448959383KIAA0319c.448C>T (p.Leu150=)
c.313C>T (p.Leu105=)
c.421C>T (p.Leu141=)
c.-9C>T (n.-9C>T)
c.466C>T (p.Leu156=)
c.430C>T (p.Leu144=)
n.691C>T
6g.24596226G>CCA362971736KIAA0319c.448C>G (p.Leu150Val)
c.313C>G (p.Leu105Val)
c.421C>G (p.Leu141Val)
c.-9C>G (n.-9C>G)
c.466C>G (p.Leu156Val)
c.430C>G (p.Leu144Val)
n.691C>G
 gnomAD v4
6g.24596226G>TCA362971738KIAA0319c.448C>A (p.Leu150Ile)
c.313C>A (p.Leu105Ile)
c.421C>A (p.Leu141Ile)
c.-9C>A (n.-9C>A)
c.466C>A (p.Leu156Ile)
c.430C>A (p.Leu144Ile)
n.691C>A
6g.24596227G>ACA3657840KIAA0319c.447C>T (p.Gly149=)
c.312C>T (p.Gly104=)
c.420C>T (p.Gly140=)
c.-10C>T (n.-10C>T)
c.465C>T (p.Gly155=)
c.429C>T (p.Gly143=)
n.690C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596227G>CCA448959384KIAA0319c.447C>G (p.Gly149=)
c.312C>G (p.Gly104=)
c.420C>G (p.Gly140=)
c.-10C>G (n.-10C>G)
c.465C>G (p.Gly155=)
c.429C>G (p.Gly143=)
n.690C>G
6g.24596227G=CA1616548875KIAA0319c.447C= (p.Gly149=)
c.312C= (p.Gly104=)
c.420C= (p.Gly140=)
c.-10C= (n.-10C=)
c.465C= (p.Gly155=)
c.429C= (p.Gly143=)
n.690C=
6g.24596227G>TCA448959385KIAA0319c.447C>A (p.Gly149=)
c.312C>A (p.Gly104=)
c.420C>A (p.Gly140=)
c.-10C>A (n.-10C>A)
c.465C>A (p.Gly155=)
c.429C>A (p.Gly143=)
n.690C>A
6g.24596228C>ACA362971749KIAA0319c.446G>T (p.Gly149Val)
c.311G>T (p.Gly104Val)
c.419G>T (p.Gly140Val)
c.-11G>T (n.-11G>T)
c.464G>T (p.Gly155Val)
c.428G>T (p.Gly143Val)
n.689G>T
 gnomAD v4
6g.24596228C=CA1616548877KIAA0319c.446G= (p.Gly149=)
c.311G= (p.Gly104=)
c.419G= (p.Gly140=)
c.-11G= (n.-11G=)
c.464G= (p.Gly155=)
c.428G= (p.Gly143=)
n.689G=
6g.24596228C>GCA362971742KIAA0319c.446G>C (p.Gly149Ala)
c.311G>C (p.Gly104Ala)
c.419G>C (p.Gly140Ala)
c.-11G>C (n.-11G>C)
c.464G>C (p.Gly155Ala)
c.428G>C (p.Gly143Ala)
n.689G>C
6g.24596228C>TCA3657841KIAA0319c.446G>A (p.Gly149Asp)
c.311G>A (p.Gly104Asp)
c.419G>A (p.Gly140Asp)
c.-11G>A (n.-11G>A)
c.464G>A (p.Gly155Asp)
c.428G>A (p.Gly143Asp)
n.689G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596231delCA2842204256KIAA0319c.446del (p.Gly149AlafsTer2)
c.311del (p.Gly104AlafsTer2)
c.419del (p.Gly140AlafsTer2)
c.-11del (n.-11del)
c.464del (p.Gly155AlafsTer2)
c.428del (p.Gly143AlafsTer2)
n.689del
6g.24596229C>ACA362971752KIAA0319c.445G>T (p.Gly149Cys)
c.310G>T (p.Gly104Cys)
c.418G>T (p.Gly140Cys)
c.-12G>T (n.-12G>T)
c.463G>T (p.Gly155Cys)
c.427G>T (p.Gly143Cys)
n.688G>T
6g.24596229C>GCA362971755KIAA0319c.445G>C (p.Gly149Arg)
c.310G>C (p.Gly104Arg)
c.418G>C (p.Gly140Arg)
c.-12G>C (n.-12G>C)
c.463G>C (p.Gly155Arg)
c.427G>C (p.Gly143Arg)
n.688G>C
6g.24596229C>TCA362971756KIAA0319c.445G>A (p.Gly149Ser)
c.310G>A (p.Gly104Ser)
c.418G>A (p.Gly140Ser)
c.-12G>A (n.-12G>A)
c.463G>A (p.Gly155Ser)
c.427G>A (p.Gly143Ser)
n.688G>A
6g.24596230C>ACA362971760KIAA0319c.444G>T (p.Trp148Cys)
c.309G>T (p.Trp103Cys)
c.417G>T (p.Trp139Cys)
c.-13G>T (n.-13G>T)
c.462G>T (p.Trp154Cys)
c.426G>T (p.Trp142Cys)
n.687G>T
6g.24596230C=CA1616548879KIAA0319c.444G= (p.Trp148=)
c.309G= (p.Trp103=)
c.417G= (p.Trp139=)
c.-13G= (n.-13G=)
c.462G= (p.Trp154=)
c.426G= (p.Trp142=)
n.687G=
6g.24596230C>GCA362971764KIAA0319c.444G>C (p.Trp148Cys)
c.309G>C (p.Trp103Cys)
c.417G>C (p.Trp139Cys)
c.-13G>C (n.-13G>C)
c.462G>C (p.Trp154Cys)
c.426G>C (p.Trp142Cys)
n.687G>C
 dbSNP gnomAD v2 gnomAD v4
6g.24596230C>TCA362971770KIAA0319c.444G>A (p.Trp148Ter)
c.309G>A (p.Trp103Ter)
c.417G>A (p.Trp139Ter)
c.-13G>A (n.-13G>A)
c.462G>A (p.Trp154Ter)
c.426G>A (p.Trp142Ter)
n.687G>A
6g.24596231C>ACA362971773KIAA0319c.443G>T (p.Trp148Leu)
c.308G>T (p.Trp103Leu)
c.416G>T (p.Trp139Leu)
c.-14G>T (n.-14G>T)
c.461G>T (p.Trp154Leu)
c.425G>T (p.Trp142Leu)
n.686G>T
6g.24596231C>GCA362971776KIAA0319c.443G>C (p.Trp148Ser)
c.308G>C (p.Trp103Ser)
c.416G>C (p.Trp139Ser)
c.-14G>C (n.-14G>C)
c.461G>C (p.Trp154Ser)
c.425G>C (p.Trp142Ser)
n.686G>C
6g.24596231C>TCA362971779KIAA0319c.443G>A (p.Trp148Ter)
c.308G>A (p.Trp103Ter)
c.416G>A (p.Trp139Ter)
c.-14G>A (n.-14G>A)
c.461G>A (p.Trp154Ter)
c.425G>A (p.Trp142Ter)
n.686G>A
 COSMIC
6g.24596231_24596232delCA2842204257KIAA0319c.442_443del (p.Trp148GlyfsTer7)
c.307_308del (p.Trp103GlyfsTer7)
c.415_416del (p.Trp139GlyfsTer7)
c.-15_-14del (n.-15_-14del)
c.460_461del (p.Trp154GlyfsTer7)
c.424_425del (p.Trp142GlyfsTer7)
n.685_686del
6g.24596232A=CA1616548881KIAA0319c.442T= (p.Trp148=)
c.307T= (p.Trp103=)
c.415T= (p.Trp139=)
c.-15T= (n.-15T=)
c.460T= (p.Trp154=)
c.424T= (p.Trp142=)
n.685T=
6g.24596232A>CCA362971786KIAA0319c.442T>G (p.Trp148Gly)
c.307T>G (p.Trp103Gly)
c.415T>G (p.Trp139Gly)
c.-15T>G (n.-15T>G)
c.460T>G (p.Trp154Gly)
c.424T>G (p.Trp142Gly)
n.685T>G
6g.24596232A>GCA362971782KIAA0319c.442T>C (p.Trp148Arg)
c.307T>C (p.Trp103Arg)
c.415T>C (p.Trp139Arg)
c.-15T>C (n.-15T>C)
c.460T>C (p.Trp154Arg)
c.424T>C (p.Trp142Arg)
n.685T>C
6g.24596232A>TCA3657842KIAA0319c.442T>A (p.Trp148Arg)
c.307T>A (p.Trp103Arg)
c.415T>A (p.Trp139Arg)
c.-15T>A (n.-15T>A)
c.460T>A (p.Trp154Arg)
c.424T>A (p.Trp142Arg)
n.685T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596233A=CA1616548884KIAA0319c.441T= (p.Asp147=)
c.306T= (p.Asp102=)
c.414T= (p.Asp138=)
c.-16T= (n.-16T=)
c.459T= (p.Asp153=)
c.423T= (p.Asp141=)
n.684T=
6g.24596233A>CCA362971787KIAA0319c.441T>G (p.Asp147Glu)
c.306T>G (p.Asp102Glu)
c.414T>G (p.Asp138Glu)
c.-16T>G (n.-16T>G)
c.459T>G (p.Asp153Glu)
c.423T>G (p.Asp141Glu)
n.684T>G
6g.24596233A>GCA3657843KIAA0319c.441T>C (p.Asp147=)
c.306T>C (p.Asp102=)
c.414T>C (p.Asp138=)
c.-16T>C (n.-16T>C)
c.459T>C (p.Asp153=)
c.423T>C (p.Asp141=)
n.684T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596233A>TCA362971790KIAA0319c.441T>A (p.Asp147Glu)
c.306T>A (p.Asp102Glu)
c.414T>A (p.Asp138Glu)
c.-16T>A (n.-16T>A)
c.459T>A (p.Asp153Glu)
c.423T>A (p.Asp141Glu)
n.684T>A
6g.24596234T>ACA362971793KIAA0319c.440A>T (p.Asp147Val)
c.305A>T (p.Asp102Val)
c.413A>T (p.Asp138Val)
c.-17A>T (n.-17A>T)
c.458A>T (p.Asp153Val)
c.422A>T (p.Asp141Val)
n.683A>T
6g.24596234T>CCA362971795KIAA0319c.440A>G (p.Asp147Gly)
c.305A>G (p.Asp102Gly)
c.413A>G (p.Asp138Gly)
c.-17A>G (n.-17A>G)
c.458A>G (p.Asp153Gly)
c.422A>G (p.Asp141Gly)
n.683A>G
6g.24596234T>GCA362971796KIAA0319c.440A>C (p.Asp147Ala)
c.305A>C (p.Asp102Ala)
c.413A>C (p.Asp138Ala)
c.-17A>C (n.-17A>C)
c.458A>C (p.Asp153Ala)
c.422A>C (p.Asp141Ala)
n.683A>C
6g.24596235C>ACA3657844KIAA0319c.439G>T (p.Asp147Tyr)
c.304G>T (p.Asp102Tyr)
c.412G>T (p.Asp138Tyr)
c.-18G>T (n.-18G>T)
c.457G>T (p.Asp153Tyr)
c.421G>T (p.Asp141Tyr)
n.682G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596235C=CA1616548889KIAA0319c.439G= (p.Asp147=)
c.304G= (p.Asp102=)
c.412G= (p.Asp138=)
c.-18G= (n.-18G=)
c.457G= (p.Asp153=)
c.421G= (p.Asp141=)
n.682G=
6g.24596235C>GCA362971802KIAA0319c.439G>C (p.Asp147His)
c.304G>C (p.Asp102His)
c.412G>C (p.Asp138His)
c.-18G>C (n.-18G>C)
c.457G>C (p.Asp153His)
c.421G>C (p.Asp141His)
n.682G>C
 dbSNP gnomAD v4
6g.24596235C>TCA362971809KIAA0319c.439G>A (p.Asp147Asn)
c.304G>A (p.Asp102Asn)
c.412G>A (p.Asp138Asn)
c.-18G>A (n.-18G>A)
c.457G>A (p.Asp153Asn)
c.421G>A (p.Asp141Asn)
n.682G>A
6g.24596236T>ACA362971812KIAA0319c.438A>T (p.Lys146Asn)
c.303A>T (p.Lys101Asn)
c.411A>T (p.Lys137Asn)
c.-19A>T (n.-19A>T)
c.456A>T (p.Lys152Asn)
c.420A>T (p.Lys140Asn)
n.681A>T
6g.24596236T>CCA448959386KIAA0319c.438A>G (p.Lys146=)
c.303A>G (p.Lys101=)
c.411A>G (p.Lys137=)
c.-19A>G (n.-19A>G)
c.456A>G (p.Lys152=)
c.420A>G (p.Lys140=)
n.681A>G
6g.24596236T>GCA3657845KIAA0319c.438A>C (p.Lys146Asn)
c.303A>C (p.Lys101Asn)
c.411A>C (p.Lys137Asn)
c.-19A>C (n.-19A>C)
c.456A>C (p.Lys152Asn)
c.420A>C (p.Lys140Asn)
n.681A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.24596236T=CA1616548894KIAA0319c.438A= (p.Lys146=)
c.303A= (p.Lys101=)
c.411A= (p.Lys137=)
c.-19A= (n.-19A=)
c.456A= (p.Lys152=)
c.420A= (p.Lys140=)
n.681A=
6g.24596237T>ACA362971820KIAA0319c.437A>T (p.Lys146Ile)
c.302A>T (p.Lys101Ile)
c.410A>T (p.Lys137Ile)
c.-20A>T (n.-20A>T)
c.455A>T (p.Lys152Ile)
c.419A>T (p.Lys140Ile)
n.680A>T
6g.24596237T>CCA362971822KIAA0319c.437A>G (p.Lys146Arg)
c.302A>G (p.Lys101Arg)
c.410A>G (p.Lys137Arg)
c.-20A>G (n.-20A>G)
c.455A>G (p.Lys152Arg)
c.419A>G (p.Lys140Arg)
n.680A>G
6g.24596237T>GCA362971818KIAA0319c.437A>C (p.Lys146Thr)
c.302A>C (p.Lys101Thr)
c.410A>C (p.Lys137Thr)
c.-20A>C (n.-20A>C)
c.455A>C (p.Lys152Thr)
c.419A>C (p.Lys140Thr)
n.680A>C
6g.24596238T>ACA362971824KIAA0319c.436A>T (p.Lys146Ter)
c.301A>T (p.Lys101Ter)
c.409A>T (p.Lys137Ter)
c.-21A>T (n.-21A>T)
c.454A>T (p.Lys152Ter)
c.418A>T (p.Lys140Ter)
n.679A>T
6g.24596238T>CCA362971825KIAA0319c.436A>G (p.Lys146Glu)
c.301A>G (p.Lys101Glu)
c.409A>G (p.Lys137Glu)
c.-21A>G (n.-21A>G)
c.454A>G (p.Lys152Glu)
c.418A>G (p.Lys140Glu)
n.679A>G
 gnomAD v4
6g.24596238T>GCA362971826KIAA0319c.436A>C (p.Lys146Gln)
c.301A>C (p.Lys101Gln)
c.409A>C (p.Lys137Gln)
c.-21A>C (n.-21A>C)
c.454A>C (p.Lys152Gln)
c.418A>C (p.Lys140Gln)
n.679A>C
6g.24596239G>ACA448959387KIAA0319c.435C>T (p.Gly145=)
c.300C>T (p.Gly100=)
c.408C>T (p.Gly136=)
c.-22C>T (n.-22C>T)
c.453C>T (p.Gly151=)
c.417C>T (p.Gly139=)
n.678C>T
6g.24596239G>CCA448959388KIAA0319c.435C>G (p.Gly145=)
c.300C>G (p.Gly100=)
c.408C>G (p.Gly136=)
c.-22C>G (n.-22C>G)
c.453C>G (p.Gly151=)
c.417C>G (p.Gly139=)
n.678C>G
6g.24596239G>TCA448959389KIAA0319c.435C>A (p.Gly145=)
c.300C>A (p.Gly100=)
c.408C>A (p.Gly136=)
c.-22C>A (n.-22C>A)
c.453C>A (p.Gly151=)
c.417C>A (p.Gly139=)
n.678C>A
6g.24596240C>ACA362971827KIAA0319c.434G>T (p.Gly145Val)
c.299G>T (p.Gly100Val)
c.407G>T (p.Gly136Val)
c.-23G>T (n.-23G>T)
c.452G>T (p.Gly151Val)
c.416G>T (p.Gly139Val)
n.677G>T
6g.24596240C>GCA362971829KIAA0319c.434G>C (p.Gly145Ala)
c.299G>C (p.Gly100Ala)
c.407G>C (p.Gly136Ala)
c.-23G>C (n.-23G>C)
c.452G>C (p.Gly151Ala)
c.416G>C (p.Gly139Ala)
n.677G>C
6g.24596240C>TCA362971831KIAA0319c.434G>A (p.Gly145Asp)
c.299G>A (p.Gly100Asp)
c.407G>A (p.Gly136Asp)
c.-23G>A (n.-23G>A)
c.452G>A (p.Gly151Asp)
c.416G>A (p.Gly139Asp)
n.677G>A
6g.24596241C>ACA362971834KIAA0319c.433G>T (p.Gly145Cys)
c.298G>T (p.Gly100Cys)
c.406G>T (p.Gly136Cys)
c.-23-1G>T (n.-23-1G>T)
c.451G>T (p.Gly151Cys)
c.415G>T (p.Gly139Cys)
n.676G>T
 gnomAD v4
6g.24596241C=CA1616548898KIAA0319c.433G= (p.Gly145=)
c.298G= (p.Gly100=)
c.406G= (p.Gly136=)
c.-23-1G= (n.-23-1G=)
c.451G= (p.Gly151=)
c.415G= (p.Gly139=)
n.676G=
6g.24596241C>GCA362971836KIAA0319c.433G>C (p.Gly145Arg)
c.298G>C (p.Gly100Arg)
c.406G>C (p.Gly136Arg)
c.-23-1G>C (n.-23-1G>C)
c.451G>C (p.Gly151Arg)
c.415G>C (p.Gly139Arg)
n.676G>C
6g.24596241C>TCA362971840KIAA0319c.433G>A (p.Gly145Ser)
c.298G>A (p.Gly100Ser)
c.406G>A (p.Gly136Ser)
c.-23-1G>A (n.-23-1G>A)
c.451G>A (p.Gly151Ser)
c.415G>A (p.Gly139Ser)
n.676G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24596242T>ACA448959390KIAA0319c.432A>T (p.Leu144=)
c.297A>T (p.Leu99=)
c.405A>T (p.Leu135=)
c.-23-2A>T (n.-23-2A>T)
c.450A>T (p.Leu150=)
c.414A>T (p.Leu138=)
n.675A>T
6g.24596242T>CCA448959391KIAA0319c.432A>G (p.Leu144=)
c.297A>G (p.Leu99=)
c.405A>G (p.Leu135=)
c.-23-2A>G (n.-23-2A>G)
c.450A>G (p.Leu150=)
c.414A>G (p.Leu138=)
n.675A>G
 gnomAD v4
6g.24596242T>GCA448959392KIAA0319c.432A>C (p.Leu144=)
c.297A>C (p.Leu99=)
c.405A>C (p.Leu135=)
c.-23-2A>C (n.-23-2A>C)
c.450A>C (p.Leu150=)
c.414A>C (p.Leu138=)
n.675A>C
 gnomAD v4
6g.24596243A=CA1616548901KIAA0319c.431T= (p.Leu144=)
c.296T= (p.Leu99=)
c.404T= (p.Leu135=)
c.-23-3T= (n.-23-3T=)
c.449T= (p.Leu150=)
c.413T= (p.Leu138=)
n.674T=
6g.24596243A>CCA362971841KIAA0319c.431T>G (p.Leu144Arg)
c.296T>G (p.Leu99Arg)
c.404T>G (p.Leu135Arg)
c.-23-3T>G (n.-23-3T>G)
c.449T>G (p.Leu150Arg)
c.413T>G (p.Leu138Arg)
n.674T>G
6g.24596243A>GCA362971842KIAA0319c.431T>C (p.Leu144Pro)
c.296T>C (p.Leu99Pro)
c.404T>C (p.Leu135Pro)
c.-23-3T>C (n.-23-3T>C)
c.449T>C (p.Leu150Pro)
c.413T>C (p.Leu138Pro)
n.674T>C
6g.24596243A>TCA362971844KIAA0319c.431T>A (p.Leu144Gln)
c.296T>A (p.Leu99Gln)
c.404T>A (p.Leu135Gln)
c.-23-3T>A (n.-23-3T>A)
c.449T>A (p.Leu150Gln)
c.413T>A (p.Leu138Gln)
n.674T>A
 dbSNP
6g.24596244_24596245delCA2838470514KIAA0319c.430_431del (p.Leu144ArgfsTer11)
c.295_296del (p.Leu99ArgfsTer11)
c.403_404del (p.Leu135ArgfsTer11)
c.-23-4_-23-3del (n.-23-4_-23-3del)
c.448_449del (p.Leu150ArgfsTer11)
c.412_413del (p.Leu138ArgfsTer11)
n.673_674del
6g.24596244G>ACA448959393KIAA0319c.430C>T (p.Leu144=)
c.295C>T (p.Leu99=)
c.403C>T (p.Leu135=)
c.-23-4C>T (n.-23-4C>T)
c.448C>T (p.Leu150=)
c.412C>T (p.Leu138=)
n.673C>T
6g.24596244G>CCA362971850KIAA0319c.430C>G (p.Leu144Val)
c.295C>G (p.Leu99Val)
c.403C>G (p.Leu135Val)
c.-23-4C>G (n.-23-4C>G)
c.448C>G (p.Leu150Val)
c.412C>G (p.Leu138Val)
n.673C>G
6g.24596244G>TCA362971847KIAA0319c.430C>A (p.Leu144Ile)
c.295C>A (p.Leu99Ile)
c.403C>A (p.Leu135Ile)
c.-23-4C>A (n.-23-4C>A)
c.448C>A (p.Leu150Ile)
c.412C>A (p.Leu138Ile)
n.673C>A
6g.24596245A>CCA362971853KIAA0319c.429T>G (p.Phe143Leu)
c.294T>G (p.Phe98Leu)
c.402T>G (p.Phe134Leu)
c.-23-5T>G (n.-23-5T>G)
c.447T>G (p.Phe149Leu)
c.411T>G (p.Phe137Leu)
n.672T>G
6g.24596245A>GCA448959394KIAA0319c.429T>C (p.Phe143=)
c.294T>C (p.Phe98=)
c.402T>C (p.Phe134=)
c.-23-5T>C (n.-23-5T>C)
c.447T>C (p.Phe149=)
c.411T>C (p.Phe137=)
n.672T>C
 gnomAD v4
6g.24596245A>TCA362971854KIAA0319c.429T>A (p.Phe143Leu)
c.294T>A (p.Phe98Leu)
c.402T>A (p.Phe134Leu)
c.-23-5T>A (n.-23-5T>A)
c.447T>A (p.Phe149Leu)
c.411T>A (p.Phe137Leu)
n.672T>A
6g.24596246A>CCA362971855KIAA0319c.428T>G (p.Phe143Cys)
c.293T>G (p.Phe98Cys)
c.401T>G (p.Phe134Cys)
c.-23-6T>G (n.-23-6T>G)
c.446T>G (p.Phe149Cys)
c.410T>G (p.Phe137Cys)
n.671T>G
6g.24596246A>GCA362971856KIAA0319c.428T>C (p.Phe143Ser)
c.293T>C (p.Phe98Ser)
c.401T>C (p.Phe134Ser)
c.-23-6T>C (n.-23-6T>C)
c.446T>C (p.Phe149Ser)
c.410T>C (p.Phe137Ser)
n.671T>C
6g.24596246A>TCA362971857KIAA0319c.428T>A (p.Phe143Tyr)
c.293T>A (p.Phe98Tyr)
c.401T>A (p.Phe134Tyr)
c.-23-6T>A (n.-23-6T>A)
c.446T>A (p.Phe149Tyr)
c.410T>A (p.Phe137Tyr)
n.671T>A
6g.24596247A>CCA362971862KIAA0319c.427T>G (p.Phe143Val)
c.292T>G (p.Phe98Val)
c.400T>G (p.Phe134Val)
c.-23-7T>G (n.-23-7T>G)
c.445T>G (p.Phe149Val)
c.409T>G (p.Phe137Val)
n.670T>G
6g.24596247A>GCA362971866KIAA0319c.427T>C (p.Phe143Leu)
c.292T>C (p.Phe98Leu)
c.400T>C (p.Phe134Leu)
c.-23-7T>C (n.-23-7T>C)
c.445T>C (p.Phe149Leu)
c.409T>C (p.Phe137Leu)
n.670T>C
6g.24596247A>TCA362971868KIAA0319c.427T>A (p.Phe143Ile)
c.292T>A (p.Phe98Ile)
c.400T>A (p.Phe134Ile)
c.-23-7T>A (n.-23-7T>A)
c.445T>A (p.Phe149Ile)
c.409T>A (p.Phe137Ile)
n.670T>A
6g.24596248G>ACA448959395KIAA0319c.426C>T (p.Thr142=)
c.291C>T (p.Thr97=)
c.399C>T (p.Thr133=)
c.-23-8C>T (n.-23-8C>T)
c.444C>T (p.Thr148=)
c.408C>T (p.Thr136=)
n.669C>T
 COSMIC
6g.24596248G>CCA448959396KIAA0319c.426C>G (p.Thr142=)
c.291C>G (p.Thr97=)
c.399C>G (p.Thr133=)
c.-23-8C>G (n.-23-8C>G)
c.444C>G (p.Thr148=)
c.408C>G (p.Thr136=)
n.669C>G
 gnomAD v4
6g.24596248G>TCA448959397KIAA0319c.426C>A (p.Thr142=)
c.291C>A (p.Thr97=)
c.399C>A (p.Thr133=)
c.-23-8C>A (n.-23-8C>A)
c.444C>A (p.Thr148=)
c.408C>A (p.Thr136=)
n.669C>A
6g.24596249G>ACA362971875KIAA0319c.425C>T (p.Thr142Ile)
c.290C>T (p.Thr97Ile)
c.398C>T (p.Thr133Ile)
c.-23-9C>T (n.-23-9C>T)
c.443C>T (p.Thr148Ile)
c.407C>T (p.Thr136Ile)
n.668C>T
6g.24596249G>CCA362971877KIAA0319c.425C>G (p.Thr142Ser)
c.290C>G (p.Thr97Ser)
c.398C>G (p.Thr133Ser)
c.-23-9C>G (n.-23-9C>G)
c.443C>G (p.Thr148Ser)
c.407C>G (p.Thr136Ser)
n.668C>G
6g.24596249G=CA1616548902KIAA0319c.425C= (p.Thr142=)
c.290C= (p.Thr97=)
c.398C= (p.Thr133=)
c.-23-9C= (n.-23-9C=)
c.443C= (p.Thr148=)
c.407C= (p.Thr136=)
n.668C=
6g.24596249G>TCA3657846KIAA0319c.425C>A (p.Thr142Asn)
c.290C>A (p.Thr97Asn)
c.398C>A (p.Thr133Asn)
c.-23-9C>A (n.-23-9C>A)
c.443C>A (p.Thr148Asn)
c.407C>A (p.Thr136Asn)
n.668C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596249_24596250insACCA2842204258KIAA0319c.424_425insGT (p.Thr142SerfsTer4)
c.289_290insGT (p.Thr97SerfsTer4)
c.397_398insGT (p.Thr133SerfsTer4)
c.-23-10_-23-9insGT (n.-23-10_-23-9insGT)
c.442_443insGT (p.Thr148SerfsTer4)
c.406_407insGT (p.Thr136SerfsTer4)
n.667_668insGT
6g.24596250delCA2677536288KIAA0319c.424del (p.Thr142ProfsTer3)
c.289del (p.Thr97ProfsTer3)
c.397del (p.Thr133ProfsTer3)
c.-23-10del (n.-23-10del)
c.442del (p.Thr148ProfsTer3)
c.406del (p.Thr136ProfsTer3)
n.667del
 gnomAD v4
6g.24596250T>ACA362971879KIAA0319c.424A>T (p.Thr142Ser)
c.289A>T (p.Thr97Ser)
c.397A>T (p.Thr133Ser)
c.-23-10A>T (n.-23-10A>T)
c.442A>T (p.Thr148Ser)
c.406A>T (p.Thr136Ser)
n.667A>T
 dbSNP gnomAD v4
6g.24596250T>CCA362971881KIAA0319c.424A>G (p.Thr142Ala)
c.289A>G (p.Thr97Ala)
c.397A>G (p.Thr133Ala)
c.-23-10A>G (n.-23-10A>G)
c.442A>G (p.Thr148Ala)
c.406A>G (p.Thr136Ala)
n.667A>G
 dbSNP
6g.24596250T>GCA3657847KIAA0319c.424A>C (p.Thr142Pro)
c.289A>C (p.Thr97Pro)
c.397A>C (p.Thr133Pro)
c.-23-10A>C (n.-23-10A>C)
c.442A>C (p.Thr148Pro)
c.406A>C (p.Thr136Pro)
n.667A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24596250T=CA1616548906KIAA0319c.424A= (p.Thr142=)
c.289A= (p.Thr97=)
c.397A= (p.Thr133=)
c.-23-10A= (n.-23-10A=)
c.442A= (p.Thr148=)
c.406A= (p.Thr136=)
n.667A=
6g.24596250_24596251insTGCCCTTTCTAGGCCCCAATCTTTGCCTAGAAAGGGCA2677536289KIAA0319c.423_424insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu141_Thr142insProPheLeuGlyLysAspTrpGlyLeuGluArgAla)
c.288_289insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu96_Thr97insProPheLeuGlyLysAspTrpGlyLeuGluArgAla)
c.396_397insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu132_Thr133insProPheLeuGlyLysAspTrpGlyLeuGluArgAla)
c.-23-11_-23-10insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (n.-23-11_-23-10insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA)
c.441_442insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu147_Thr148insProPheLeuGlyLysAspTrpGlyLeuGluArgAla)
c.405_406insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA (p.Leu135_Thr136insProPheLeuGlyLysAspTrpGlyLeuGluArgAla)
n.666_667insCCCTTTCTAGGCAAAGATTGGGGCCTAGAAAGGGCA
 gnomAD v4
6g.24596251C>ACA362971886KIAA0319c.423G>T (p.Leu141Phe)
c.288G>T (p.Leu96Phe)
c.396G>T (p.Leu132Phe)
c.-23-11G>T (n.-23-11G>T)
c.441G>T (p.Leu147Phe)
c.405G>T (p.Leu135Phe)
n.666G>T
 COSMIC
6g.24596251C>GCA362971885KIAA0319c.423G>C (p.Leu141Phe)
c.288G>C (p.Leu96Phe)
c.396G>C (p.Leu132Phe)
c.-23-11G>C (n.-23-11G>C)
c.441G>C (p.Leu147Phe)
c.405G>C (p.Leu135Phe)
n.666G>C
 gnomAD v4
6g.24596251C>TCA448959398KIAA0319c.423G>A (p.Leu141=)
c.288G>A (p.Leu96=)
c.396G>A (p.Leu132=)
c.-23-11G>A (n.-23-11G>A)
c.441G>A (p.Leu147=)
c.405G>A (p.Leu135=)
n.666G>A
6g.24596252A>CCA362971889KIAA0319c.422T>G (p.Leu141Trp)
c.287T>G (p.Leu96Trp)
c.395T>G (p.Leu132Trp)
c.-23-12T>G (n.-23-12T>G)
c.440T>G (p.Leu147Trp)
c.404T>G (p.Leu135Trp)
n.665T>G
6g.24596252A>GCA362971894KIAA0319c.422T>C (p.Leu141Ser)
c.287T>C (p.Leu96Ser)
c.395T>C (p.Leu132Ser)
c.-23-12T>C (n.-23-12T>C)
c.440T>C (p.Leu147Ser)
c.404T>C (p.Leu135Ser)
n.665T>C
6g.24596252A>TCA362971892KIAA0319c.422T>A (p.Leu141Ter)
c.287T>A (p.Leu96Ter)
c.395T>A (p.Leu132Ter)
c.-23-12T>A (n.-23-12T>A)
c.440T>A (p.Leu147Ter)
c.404T>A (p.Leu135Ter)
n.665T>A
6g.24596253A=CA1616548910KIAA0319c.421T= (p.Leu141=)
c.286T= (p.Leu96=)
c.394T= (p.Leu132=)
c.-23-13T= (n.-23-13T=)
c.439T= (p.Leu147=)
c.403T= (p.Leu135=)
n.664T=
6g.24596253A>CCA362971901KIAA0319c.421T>G (p.Leu141Val)
c.286T>G (p.Leu96Val)
c.394T>G (p.Leu132Val)
c.-23-13T>G (n.-23-13T>G)
c.439T>G (p.Leu147Val)
c.403T>G (p.Leu135Val)
n.664T>G
 gnomAD v4
6g.24596253A>GCA448959399KIAA0319c.421T>C (p.Leu141=)
c.286T>C (p.Leu96=)
c.394T>C (p.Leu132=)
c.-23-13T>C (n.-23-13T>C)
c.439T>C (p.Leu147=)
c.403T>C (p.Leu135=)
n.664T>C
 dbSNP gnomAD v2 gnomAD v4
6g.24596253A>TCA362971905KIAA0319c.421T>A (p.Leu141Met)
c.286T>A (p.Leu96Met)
c.394T>A (p.Leu132Met)
c.-23-13T>A (n.-23-13T>A)
c.439T>A (p.Leu147Met)
c.403T>A (p.Leu135Met)
n.664T>A

Number of alleles fetched