Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.17129676C>ACA468307380CUBNc.90G>T (p.Leu30=)
10g.17129676C=CA1893472720CUBNc.90G= (p.Leu30=)
10g.17129676C>GCA468307381CUBNc.90G>C (p.Leu30=)
dbSNP
10g.17129676C>TCA468307382CUBNc.90G>A (p.Leu30=)
10g.17129677A>CCA376169970CUBNc.89T>G (p.Leu30Arg)
10g.17129677A>GCA376169972CUBNc.89T>C (p.Leu30Pro)
10g.17129677A>TCA376169971CUBNc.89T>A (p.Leu30Gln)
10g.17129678G>ACA468307383CUBNc.88C>T (p.Leu30=)
gnomAD v4
10g.17129678G>CCA376169973CUBNc.88C>G (p.Leu30Val)
10g.17129678G>TCA376169974CUBNc.88C>A (p.Leu30Met)
10g.17129679C>ACA376169975CUBNc.87G>T (p.Glu29Asp)
10g.17129679C=CA1893472721CUBNc.87G= (p.Glu29=)
10g.17129679C>GCA376169976CUBNc.87G>C (p.Glu29Asp)
10g.17129679C>TCA468307384CUBNc.87G>A (p.Glu29=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.17129680T>ACA376169977CUBNc.86A>T (p.Glu29Val)
10g.17129680T>CCA376169978CUBNc.86A>G (p.Glu29Gly)
10g.17129680T>GCA376169979CUBNc.86A>C (p.Glu29Ala)
10g.17129681C>ACA376169980CUBNc.85G>T (p.Glu29Ter)
10g.17129681C>GCA376169981CUBNc.85G>C (p.Glu29Gln)
COSMIC
10g.17129681C>TCA376169982CUBNc.85G>A (p.Glu29Lys)
10g.17129682A>CCA468307385CUBNc.84T>G (p.Leu28=)
gnomAD v4
10g.17129682A>GCA468307386CUBNc.84T>C (p.Leu28=)
10g.17129682A>TCA468307387CUBNc.84T>A (p.Leu28=)
10g.17129683A=CA1893472722CUBNc.83T= (p.Leu28=)
10g.17129683A>CCA376169984CUBNc.83T>G (p.Leu28Arg)
gnomAD v4
10g.17129683A>GCA203618542CUBNc.83T>C (p.Leu28Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17129683A>TCA376169983CUBNc.83T>A (p.Leu28His)
10g.17129684G>ACA376169985CUBNc.82C>T (p.Leu28Phe)
dbSNP gnomAD v2 gnomAD v4
10g.17129684G>CCA376169986CUBNc.82C>G (p.Leu28Val)
gnomAD v4
10g.17129684G=CA1893472723CUBNc.82C= (p.Leu28=)
10g.17129684G>TCA376169987CUBNc.82C>A (p.Leu28Ile)
10g.17129685T>ACA376169988CUBNc.81A>T (p.Glu27Asp)
10g.17129685T>CCA468307388CUBNc.81A>G (p.Glu27=)
10g.17129685T>GCA376169989CUBNc.81A>C (p.Glu27Asp)
10g.17129686T>ACA376169992CUBNc.80A>T (p.Glu27Val)
gnomAD v4
10g.17129686T>CCA376169991CUBNc.80A>G (p.Glu27Gly)
gnomAD v4
10g.17129686T>GCA376169990CUBNc.80A>C (p.Glu27Ala)
10g.17129687C>ACA376169993CUBNc.79G>T (p.Glu27Ter)
10g.17129687C>GCA376169994CUBNc.79G>C (p.Glu27Gln)
10g.17129687C>TCA376169995CUBNc.79G>A (p.Glu27Lys)
10g.17129688T>ACA468307389CUBNc.78A>T (p.Gly26=)
10g.17129688T>CCA468307390CUBNc.78A>G (p.Gly26=)
10g.17129688T>GCA468307391CUBNc.78A>C (p.Gly26=)
10g.17129689C>ACA376169996CUBNc.77G>T (p.Gly26Val)
10g.17129689C>GCA376169997CUBNc.77G>C (p.Gly26Ala)
10g.17129689C>TCA376169998CUBNc.77G>A (p.Gly26Glu)
10g.17129690C>ACA376169999CUBNc.76G>T (p.Gly26Ter)
10g.17129690C>GCA376170001CUBNc.76G>C (p.Gly26Arg)
10g.17129690C>TCA376170000CUBNc.76G>A (p.Gly26Arg)
10g.17129691A>CCA468307392CUBNc.75T>G (p.Ala25=)
10g.17129691A>GCA468307393CUBNc.75T>C (p.Ala25=)
10g.17129691A>TCA468307394CUBNc.75T>A (p.Ala25=)
10g.17129692G>ACA376170002CUBNc.74C>T (p.Ala25Val)
10g.17129692G>CCA376170003CUBNc.74C>G (p.Ala25Gly)
10g.17129692G>TCA376170004CUBNc.74C>A (p.Ala25Asp)
10g.17129692_17129703delCA2574501989CUBNc.63_74del (p.Asn22_Ala25del)
gnomAD v4
10g.17129693C>ACA376170005CUBNc.73G>T (p.Ala25Ser)
10g.17129693C=CA1893472724CUBNc.73G= (p.Ala25=)
10g.17129693C>GCA376170006CUBNc.73G>C (p.Ala25Pro)
10g.17129693C>TCA376170007CUBNc.73G>A (p.Ala25Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17129694T>ACA376170008CUBNc.72A>T (p.Glu24Asp)
10g.17129694T>CCA468307395CUBNc.72A>G (p.Glu24=)
10g.17129694T>GCA376170009CUBNc.72A>C (p.Glu24Asp)
10g.17129695T>ACA376170010CUBNc.71A>T (p.Glu24Val)
10g.17129695T>CCA376170011CUBNc.71A>G (p.Glu24Gly)
10g.17129695T>GCA376170012CUBNc.71A>C (p.Glu24Ala)
dbSNP
10g.17129695T=CA1893472725CUBNc.71A= (p.Glu24=)
10g.17129696C>ACA376170014CUBNc.70G>T (p.Glu24Ter)
10g.17129696C=CA1893472726CUBNc.70G= (p.Glu24=)
10g.17129696C>GCA376170013CUBNc.70G>C (p.Glu24Gln)
10g.17129696C>TCA5425803CUBNc.70G>A (p.Glu24Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129697G>ACA5425804CUBNc.69C>T (p.Gly23=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129697G>CCA468307396CUBNc.69C>G (p.Gly23=)
10g.17129697G=CA1893472727CUBNc.69C= (p.Gly23=)
10g.17129697G>TCA468307397CUBNc.69C>A (p.Gly23=)
gnomAD v4
10g.17129698C>ACA376170017CUBNc.68G>T (p.Gly23Val)
10g.17129698C>GCA376170015CUBNc.68G>C (p.Gly23Ala)
10g.17129698C>TCA376170016CUBNc.68G>A (p.Gly23Asp)
10g.17129699C>ACA376170018CUBNc.67G>T (p.Gly23Cys)
10g.17129699C=CA1893472728CUBNc.67G= (p.Gly23=)
10g.17129699C>GCA376170019CUBNc.67G>C (p.Gly23Arg)
10g.17129699C>TCA203618544CUBNc.67G>A (p.Gly23Ser)
dbSNP gnomAD v4 COSMIC
10g.17129700A>CCA376170020CUBNc.66T>G (p.Asn22Lys)
10g.17129700A>GCA468307398CUBNc.66T>C (p.Asn22=)
ClinVar
10g.17129700A>TCA376170021CUBNc.66T>A (p.Asn22Lys)
10g.17129701T>ACA376170022CUBNc.65A>T (p.Asn22Ile)
10g.17129701T>CCA376170023CUBNc.65A>G (p.Asn22Ser)
10g.17129701T>GCA376170024CUBNc.65A>C (p.Asn22Thr)
dbSNP gnomAD v2 gnomAD v4
10g.17129701T=CA1893472729CUBNc.65A= (p.Asn22=)
10g.17129702T>ACA5425805CUBNc.64A>T (p.Asn22Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17129702T>CCA376170025CUBNc.64A>G (p.Asn22Asp)
10g.17129702T>GCA376170026CUBNc.64A>C (p.Asn22His)
10g.17129702T=CA1893472730CUBNc.64A= (p.Asn22=)
10g.17129703T>ACA468307399CUBNc.63A>T (p.Val21=)
10g.17129703T>CCA468307400CUBNc.63A>G (p.Val21=)
dbSNP
10g.17129703T>GCA203618554CUBNc.63A>C (p.Val21=)
dbSNP
10g.17129703T=CA1893472731CUBNc.63A= (p.Val21=)
10g.17129704_17129706delCA2574501990CUBNc.61_63del (p.Val21del)
10g.17129704A>CCA376170029CUBNc.62T>G (p.Val21Gly)
10g.17129704A>GCA376170027CUBNc.62T>C (p.Val21Ala)
10g.17129704A>TCA376170028CUBNc.62T>A (p.Val21Glu)
10g.17129705C>ACA376170030CUBNc.61G>T (p.Val21Leu)
10g.17129705C>GCA376170031CUBNc.61G>C (p.Val21Leu)
10g.17129705C>TCA376170032CUBNc.61G>A (p.Val21Ile)
10g.17129706T>ACA376170033CUBNc.60A>T (p.Glu20Asp)
10g.17129706T>CCA468307401CUBNc.60A>G (p.Glu20=)
10g.17129706T>GCA376170034CUBNc.60A>C (p.Glu20Asp)
10g.17129707T>ACA376170035CUBNc.59A>T (p.Glu20Val)
10g.17129707T>CCA376170036CUBNc.59A>G (p.Glu20Gly)
10g.17129707T>GCA376170037CUBNc.59A>C (p.Glu20Ala)
10g.17129708C>ACA376170038CUBNc.58G>T (p.Glu20Ter)
10g.17129708C=CA1893472732CUBNc.58G= (p.Glu20=)
10g.17129708C>GCA376170039CUBNc.58G>C (p.Glu20Gln)
10g.17129708C>TCA376170040CUBNc.58G>A (p.Glu20Lys)
dbSNP gnomAD v3 gnomAD v4
10g.17129709delCA2608405398CUBNc.57del (p.Glu20LysfsTer2)
gnomAD v4
10g.17129709A=CA1893472733CUBNc.57T= (p.Ala19=)
10g.17129709A>CCA468307402CUBNc.57T>G (p.Ala19=)
dbSNP gnomAD v4
10g.17129709A>GCA468307403CUBNc.57T>C (p.Ala19=)
10g.17129709A>TCA468307404CUBNc.57T>A (p.Ala19=)
10g.17129710G>ACA376170043CUBNc.56C>T (p.Ala19Val)
dbSNP
10g.17129710G>CCA376170042CUBNc.56C>G (p.Ala19Gly)
10g.17129710G=CA1893472734CUBNc.56C= (p.Ala19=)
10g.17129710G>TCA376170041CUBNc.56C>A (p.Ala19Asp)
10g.17129711C>ACA376170044CUBNc.55G>T (p.Ala19Ser)
dbSNP gnomAD v2 gnomAD v4
10g.17129711C=CA1893472735CUBNc.55G= (p.Ala19=)
10g.17129711C>GCA376170045CUBNc.55G>C (p.Ala19Pro)
10g.17129711C>TCA376170046CUBNc.55G>A (p.Ala19Thr)
dbSNP gnomAD v3 gnomAD v4
10g.17129712A>CCA376170047CUBNc.54T>G (p.Phe18Leu)
10g.17129712A>GCA468307405CUBNc.54T>C (p.Phe18=)
10g.17129712A>TCA376170048CUBNc.54T>A (p.Phe18Leu)
10g.17129713A>CCA376170049CUBNc.53T>G (p.Phe18Cys)
10g.17129713A>GCA376170050CUBNc.53T>C (p.Phe18Ser)
10g.17129713A>TCA376170051CUBNc.53T>A (p.Phe18Tyr)
10g.17129714A>CCA376170052CUBNc.52T>G (p.Phe18Val)
10g.17129714A>GCA376170053CUBNc.52T>C (p.Phe18Leu)
10g.17129714A>TCA376170054CUBNc.52T>A (p.Phe18Ile)
10g.17129715T>ACA468307407CUBNc.51A>T (p.Ile17=)
10g.17129715T>CCA376170055CUBNc.51A>G (p.Ile17Met)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17129715T>GCA468307406CUBNc.51A>C (p.Ile17=)
10g.17129715T=CA1893472736CUBNc.51A= (p.Ile17=)
10g.17129716A>CCA376170057CUBNc.50T>G (p.Ile17Arg)
10g.17129716A>GCA376170058CUBNc.50T>C (p.Ile17Thr)
dbSNP
10g.17129716A>TCA376170056CUBNc.50T>A (p.Ile17Lys)
10g.17129717T>ACA376170059CUBNc.49A>T (p.Ile17Leu)
10g.17129717T>CCA376170060CUBNc.49A>G (p.Ile17Val)
10g.17129717T>GCA376170061CUBNc.49A>C (p.Ile17Leu)
10g.17129718T>ACA376170062CUBNc.48A>T (p.Leu16Phe)
gnomAD v4
10g.17129718T>CCA203618557CUBNc.48A>G (p.Leu16=)
dbSNP gnomAD v3 gnomAD v4
10g.17129718T>GCA376170063CUBNc.48A>C (p.Leu16Phe)
gnomAD v4
10g.17129718T=CA1893472737CUBNc.48A= (p.Leu16=)
10g.17129719A>CCA376170066CUBNc.47T>G (p.Leu16Ter)
10g.17129719A>GCA376170064CUBNc.47T>C (p.Leu16Ser)
10g.17129719A>TCA376170065CUBNc.47T>A (p.Leu16Ter)
10g.17129720A=CA1893472738CUBNc.46T= (p.Leu16=)
10g.17129720A>CCA376170067CUBNc.46T>G (p.Leu16Val)
10g.17129720A>GCA5425806CUBNc.46T>C (p.Leu16=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17129720A>TCA376170068CUBNc.46T>A (p.Leu16Ile)
10g.17129721T>ACA376170069CUBNc.45A>T (p.Leu15Phe)
10g.17129721T>CCA468307408CUBNc.45A>G (p.Leu15=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17129721T>GCA376170070CUBNc.45A>C (p.Leu15Phe)
10g.17129721T=CA1893472739CUBNc.45A= (p.Leu15=)
10g.17129722A>CCA376170073CUBNc.44T>G (p.Leu15Ter)
10g.17129722A>GCA376170072CUBNc.44T>C (p.Leu15Ser)
10g.17129722A>TCA376170071CUBNc.44T>A (p.Leu15Ter)
10g.17129723A>CCA376170074CUBNc.43T>G (p.Leu15Val)
10g.17129723A>GCA468307409CUBNc.43T>C (p.Leu15=)
gnomAD v4
10g.17129723A>TCA376170075CUBNc.43T>A (p.Leu15Ile)
10g.17129724G>ACA468307410CUBNc.42C>T (p.Thr14=)
gnomAD v4
10g.17129724G>CCA468307411CUBNc.42C>G (p.Thr14=)
gnomAD v4
10g.17129724G>TCA468307412CUBNc.42C>A (p.Thr14=)
10g.17129725G>ACA5425807CUBNc.41C>T (p.Thr14Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.17129725G>CCA376170076CUBNc.41C>G (p.Thr14Ser)
10g.17129725G=CA1893472740CUBNc.41C= (p.Thr14=)
10g.17129725G>TCA376170077CUBNc.41C>A (p.Thr14Asn)
10g.17129726delCA2608405399CUBNc.40del (p.Thr14ProfsTer3)
gnomAD v4
10g.17129726T>ACA376170078CUBNc.40A>T (p.Thr14Ser)
10g.17129726T>CCA376170079CUBNc.40A>G (p.Thr14Ala)
dbSNP gnomAD v2 gnomAD v4
10g.17129726T>GCA376170080CUBNc.40A>C (p.Thr14Pro)
gnomAD v4
10g.17129726T=CA1893472741CUBNc.40A= (p.Thr14=)
10g.17129727A>CCA468307413CUBNc.39T>G (p.Leu13=)
10g.17129727A>GCA468307414CUBNc.39T>C (p.Leu13=)
10g.17129727A>TCA468307415CUBNc.39T>A (p.Leu13=)
10g.17129728A>CCA376170081CUBNc.38T>G (p.Leu13Arg)
10g.17129728A>GCA376170082CUBNc.38T>C (p.Leu13Pro)
10g.17129728A>TCA376170083CUBNc.38T>A (p.Leu13His)
10g.17129729G>ACA5425808CUBNc.37C>T (p.Leu13Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129729G>CCA376170084CUBNc.37C>G (p.Leu13Val)
dbSNP gnomAD v2 gnomAD v4
10g.17129729G=CA1893472742CUBNc.37C= (p.Leu13=)
10g.17129729G>TCA376170085CUBNc.37C>A (p.Leu13Ile)
10g.17129730C>ACA5425809CUBNc.36G>T (p.Leu12Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17129730C=CA1893472743CUBNc.36G= (p.Leu12=)
10g.17129730C>GCA376170086CUBNc.36G>C (p.Leu12Phe)
10g.17129730C>TCA468307416CUBNc.36G>A (p.Leu12=)
10g.17129731A>CCA376170087CUBNc.35T>G (p.Leu12Trp)
10g.17129731A>GCA376170088CUBNc.35T>C (p.Leu12Ser)
10g.17129731A>TCA376170089CUBNc.35T>A (p.Leu12Ter)
10g.17129732A>CCA376170090CUBNc.34T>G (p.Leu12Val)
10g.17129732A>GCA468307417CUBNc.34T>C (p.Leu12=)
10g.17129732A>TCA376170091CUBNc.34T>A (p.Leu12Met)
10g.17129733A>CCA376170092CUBNc.33T>G (p.Ser11Arg)
10g.17129733A>GCA468307418CUBNc.33T>C (p.Ser11=)
10g.17129733A>TCA376170093CUBNc.33T>A (p.Ser11Arg)
10g.17129734C>ACA376170094CUBNc.32G>T (p.Ser11Ile)
10g.17129734C=CA1893472744CUBNc.32G= (p.Ser11=)
10g.17129734C>GCA5425810CUBNc.32G>C (p.Ser11Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129734C>TCA376170095CUBNc.32G>A (p.Ser11Asn)
10g.17129735T>ACA376170096CUBNc.31A>T (p.Ser11Cys)
10g.17129735T>CCA376170097CUBNc.31A>G (p.Ser11Gly)
10g.17129735T>GCA376170098CUBNc.31A>C (p.Ser11Arg)
10g.17129736C>ACA376170101CUBNc.30G>T (p.Trp10Cys)
gnomAD v4
10g.17129736C>GCA376170100CUBNc.30G>C (p.Trp10Cys)
10g.17129736C>TCA376170099CUBNc.30G>A (p.Trp10Ter)
gnomAD v4
10g.17129737C>ACA376170104CUBNc.29G>T (p.Trp10Leu)
10g.17129737C>GCA376170102CUBNc.29G>C (p.Trp10Ser)
10g.17129737C>TCA376170103CUBNc.29G>A (p.Trp10Ter)
10g.17129738A>CCA376170105CUBNc.28T>G (p.Trp10Gly)
10g.17129738A>GCA376170106CUBNc.28T>C (p.Trp10Arg)
10g.17129738A>TCA376170107CUBNc.28T>A (p.Trp10Arg)
10g.17129739A>CCA468307419CUBNc.27T>G (p.Leu9=)
10g.17129739A>GCA468307420CUBNc.27T>C (p.Leu9=)
gnomAD v4
10g.17129739A>TCA468307421CUBNc.27T>A (p.Leu9=)
10g.17129740A>CCA376170108CUBNc.26T>G (p.Leu9Arg)
10g.17129740A>GCA376170109CUBNc.26T>C (p.Leu9Pro)
10g.17129740A>TCA376170110CUBNc.26T>A (p.Leu9His)
10g.17129741G>ACA376170111CUBNc.25C>T (p.Leu9Phe)
COSMIC
10g.17129741G>CCA376170112CUBNc.25C>G (p.Leu9Val)
10g.17129741G>TCA376170113CUBNc.25C>A (p.Leu9Ile)
10g.17129742A>CCA376170114CUBNc.24T>G (p.Phe8Leu)
10g.17129742A>GCA468307422CUBNc.24T>C (p.Phe8=)
gnomAD v4
10g.17129742A>TCA376170115CUBNc.24T>A (p.Phe8Leu)
10g.17129743A=CA1893472745CUBNc.23T= (p.Phe8=)
10g.17129743A>CCA376170118CUBNc.23T>G (p.Phe8Cys)
dbSNP gnomAD v2 gnomAD v4
10g.17129743A>GCA376170116CUBNc.23T>C (p.Phe8Ser)
10g.17129743A>TCA376170117CUBNc.23T>A (p.Phe8Tyr)
10g.17129744A=CA1893472746CUBNc.22T= (p.Phe8=)
10g.17129744A>CCA376170119CUBNc.22T>G (p.Phe8Val)
10g.17129744A>GCA5425811CUBNc.22T>C (p.Phe8Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129744A>TCA376170120CUBNc.22T>A (p.Phe8Ile)
10g.17129745A=CA1893472747CUBNc.21T= (p.Pro7=)
10g.17129745A>CCA468307423CUBNc.21T>G (p.Pro7=)
10g.17129745A>GCA468307424CUBNc.21T>C (p.Pro7=)
10g.17129745A>TCA5425812CUBNc.21T>A (p.Pro7=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129746G>ACA376170121CUBNc.20C>T (p.Pro7Leu)
10g.17129746G>CCA376170122CUBNc.20C>G (p.Pro7Arg)
10g.17129746G=CA1893472748CUBNc.20C= (p.Pro7=)
10g.17129746G>TCA376170123CUBNc.20C>A (p.Pro7His)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.17129747G>ACA376170124CUBNc.19C>T (p.Pro7Ser)
gnomAD v4
10g.17129747G>CCA376170125CUBNc.19C>G (p.Pro7Ala)
10g.17129747G>TCA376170126CUBNc.19C>A (p.Pro7Thr)
10g.17129748T>ACA5425813CUBNc.18A>T (p.Leu6Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129748T>CCA203618610CUBNc.18A>G (p.Leu6=)
dbSNP gnomAD v4
10g.17129748T>GCA376170127CUBNc.18A>C (p.Leu6Phe)
10g.17129748T=CA1893472749CUBNc.18A= (p.Leu6=)
10g.17129749A>CCA376170129CUBNc.17T>G (p.Leu6Ter)
10g.17129749A>GCA376170130CUBNc.17T>C (p.Leu6Ser)
10g.17129749A>TCA376170128CUBNc.17T>A (p.Leu6Ter)
10g.17129750A>CCA376170131CUBNc.16T>G (p.Leu6Val)
10g.17129750A>GCA468307425CUBNc.16T>C (p.Leu6=)
10g.17129750A>TCA376170132CUBNc.16T>A (p.Leu6Ile)
gnomAD v4
10g.17129751A>CCA468307426CUBNc.15T>G (p.Ser5=)
10g.17129751A>GCA468307427CUBNc.15T>C (p.Ser5=)
10g.17129751A>TCA468307428CUBNc.15T>A (p.Ser5=)
10g.17129752G>ACA376170133CUBNc.14C>T (p.Ser5Phe)
10g.17129752G>CCA376170134CUBNc.14C>G (p.Ser5Cys)
dbSNP gnomAD v4
10g.17129752G=CA1893472750CUBNc.14C= (p.Ser5=)
10g.17129752G>TCA376170135CUBNc.14C>A (p.Ser5Tyr)
10g.17129753A>CCA376170136CUBNc.13T>G (p.Ser5Ala)
10g.17129753A>GCA376170137CUBNc.13T>C (p.Ser5Pro)
10g.17129753A>TCA376170138CUBNc.13T>A (p.Ser5Thr)
10g.17129754C>ACA376170139CUBNc.12G>T (p.Met4Ile)
10g.17129754C=CA1893472751CUBNc.12G= (p.Met4=)
10g.17129754C>GCA376170140CUBNc.12G>C (p.Met4Ile)
10g.17129754C>TCA376170141CUBNc.12G>A (p.Met4Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17129755A>CCA376170142CUBNc.11T>G (p.Met4Arg)
dbSNP
10g.17129755A>GCA376170143CUBNc.11T>C (p.Met4Thr)
10g.17129755A>TCA376170144CUBNc.11T>A (p.Met4Lys)
10g.17129756T>ACA376170147CUBNc.10A>T (p.Met4Leu)
10g.17129756T>CCA376170145CUBNc.10A>G (p.Met4Val)
dbSNP gnomAD v4
10g.17129756T>GCA376170146CUBNc.10A>C (p.Met4Leu)
10g.17129756T=CA1893472752CUBNc.10A= (p.Met4=)
10g.17129757_17129759dupCA2608405400CUBNc.8_10dup (p.Asn3_Met4insAsn)
gnomAD v4
10g.17129757G>ACA468307430CUBNc.9C>T (p.Asn3=)
10g.17129757G>CCA376170148CUBNc.9C>G (p.Asn3Lys)
10g.17129757G=CA1893472753CUBNc.9C= (p.Asn3=)
10g.17129757G>TCA203618618CUBNc.9C>A (p.Asn3Lys)
dbSNP gnomAD v3 gnomAD v4
10g.17129758T>ACA376170149CUBNc.8A>T (p.Asn3Ile)
10g.17129758T>CCA376170150CUBNc.8A>G (p.Asn3Ser)
10g.17129758T>GCA376170151CUBNc.8A>C (p.Asn3Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.17129758T=CA1893472754CUBNc.8A= (p.Asn3=)
10g.17129759T>ACA376170152CUBNc.7A>T (p.Asn3Tyr)
10g.17129759T>CCA376170153CUBNc.7A>G (p.Asn3Asp)
dbSNP gnomAD v2 gnomAD v4
10g.17129759T>GCA376170154CUBNc.7A>C (p.Asn3His)
10g.17129759T=CA1893472755CUBNc.7A= (p.Asn3=)
10g.17129760C>ACA376170155CUBNc.6G>T (p.Met2Ile)
gnomAD v4
10g.17129760C>GCA376170156CUBNc.6G>C (p.Met2Ile)
10g.17129760C>TCA376170157CUBNc.6G>A (p.Met2Ile)
10g.17129761A=CA1893472756CUBNc.5T= (p.Met2=)
10g.17129761A>CCA376170159CUBNc.5T>G (p.Met2Arg)
10g.17129761A>GCA376170160CUBNc.5T>C (p.Met2Thr)
dbSNP gnomAD v2 gnomAD v4
10g.17129761A>TCA376170158CUBNc.5T>A (p.Met2Lys)
10g.17129762T>ACA376170161CUBNc.4A>T (p.Met2Leu)
10g.17129762T>CCA5425814CUBNc.4A>G (p.Met2Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129762T>GCA376170162CUBNc.4A>C (p.Met2Leu)
10g.17129762T=CA1893472757CUBNc.4A= (p.Met2=)
10g.17129763C>ACA5425815CUBNc.3G>T (p.Met1Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.17129763C=CA1893472758CUBNc.3G= (p.Met1=)
10g.17129763C>GCA376170163CUBNc.3G>C (p.Met1Ile)
10g.17129763C>TCA376170164CUBNc.3G>A (p.Met1Ile)
10g.17129764A>CCA376170165CUBNc.2T>G (p.Met1Arg)
10g.17129764A>GCA376170166CUBNc.2T>C (p.Met1Thr)
gnomAD v4
10g.17129764A>TCA376170167CUBNc.2T>A (p.Met1Lys)
10g.17129765T>ACA376170168CUBNc.1A>T (p.Met1Leu)
10g.17129765T>CCA376170169CUBNc.1A>G (p.Met1Val)
dbSNP gnomAD v4
10g.17129765T>GCA376170170CUBNc.1A>C (p.Met1Leu)
10g.17129765_17129766insTTTTTTAATGATACGGCA2608405401CUBNc.-1_1insCCGTATCATTAAAAAA (p.Met1ProfsTer4)
gnomAD v4
10g.17129766_17129767delinsCACA1893472759CUBNc.-2_-1delinsTG (n.-2_-1delinsTG)
10g.17129767A>GCA2608405402CUBNc.-2T>C (n.-2T>C)
gnomAD v4
10g.17129768delCA662380967CUBNc.-2del (n.-2del)
dbSNP gnomAD v3 gnomAD v4
10g.17129768A=CA1893472760CUBNc.-3T= (n.-3T=)
10g.17129768A>GCA5425816CUBNc.-3T>C (n.-3T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.17129769C>ACA2574501991CUBNc.-4G>T (n.-4G>T)
10g.17129770C>GCA2608405403CUBNc.-5G>C (n.-5G>C)
gnomAD v4
10g.17129771T>ACA662380968CUBNc.-6A>T (n.-6A>T)
dbSNP gnomAD v3 gnomAD v4
10g.17129771T=CA1893472761CUBNc.-6A= (n.-6A=)
10g.17129772C>GCA2608405404CUBNc.-7G>C (n.-7G>C)
gnomAD v4
10g.17129773C>ACA2608405405CUBNc.-8G>T (n.-8G>T)
gnomAD v4
10g.17129773C>GCA2608405406CUBNc.-8G>C (n.-8G>C)
gnomAD v4
10g.17129774C=CA1893472762CUBNc.-9G= (n.-9G=)
10g.17129774C>GCA2608405407CUBNc.-9G>C (n.-9G>C)
gnomAD v4
10g.17129775dupCA662380969CUBNc.-10dup (n.-10dup)
dbSNP gnomAD v3 gnomAD v4
10g.17129776G>ACA592157716CUBNc.-11C>T (n.-11C>T)
dbSNP gnomAD v2
10g.17129776G=CA1893472763CUBNc.-11C= (n.-11C=)

Number of alleles fetched