Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496171G>ACA276809606TBC1D24c.23G>A (p.Cys8Tyr)
n.205G>A
dbSNP
16g.2496171G>CCA394374155TBC1D24c.23G>C (p.Cys8Ser)
n.205G>C
16g.2496171G=CA2202259663TBC1D24c.23G= (p.Cys8=)
n.205G=
16g.2496171G>TCA394374158TBC1D24c.23G>T (p.Cys8Phe)
n.205G>T
16g.2496172C>ACA394374159TBC1D24c.24C>A (p.Cys8Ter)
n.206C>A
16g.2496172C=CA2202259664TBC1D24c.24C= (p.Cys8=)
n.206C=
16g.2496172C>GCA394374161TBC1D24c.24C>G (p.Cys8Trp)
n.206C>G
ClinVar dbSNP
16g.2496172C>TCA493160045TBC1D24c.24C>T (p.Cys8=)
n.206C>T
16g.2496173T>ACA394374163TBC1D24c.25T>A (p.Phe9Ile)
n.207T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496173T>CCA394374165TBC1D24c.25T>C (p.Phe9Leu)
n.207T>C
16g.2496173T>GCA394374167TBC1D24c.25T>G (p.Phe9Val)
n.207T>G
16g.2496173T=CA2202259665TBC1D24c.25T= (p.Phe9=)
n.207T=
16g.2496174T>ACA394374169TBC1D24c.26T>A (p.Phe9Tyr)
n.208T>A
16g.2496174T>CCA394374172TBC1D24c.26T>C (p.Phe9Ser)
n.208T>C
16g.2496174T>GCA394374173TBC1D24c.26T>G (p.Phe9Cys)
n.208T>G
16g.2496175C>ACA394374175TBC1D24c.27C>A (p.Phe9Leu)
n.209C>A
16g.2496175C=CA2202259666TBC1D24c.27C= (p.Phe9=)
n.209C=
16g.2496175C>GCA394374177TBC1D24c.27C>G (p.Phe9Leu)
n.209C>G
16g.2496175C>TCA7843907TBC1D24c.27C>T (p.Phe9=)
n.209C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496176G>ACA7843908TBC1D24c.28G>A (p.Val10Met)
n.210G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496176G>CCA394374180TBC1D24c.28G>C (p.Val10Leu)
n.210G>C
16g.2496176G=CA2202259667TBC1D24c.28G= (p.Val10=)
n.210G=
16g.2496176G>TCA394374181TBC1D24c.28G>T (p.Val10Leu)
n.210G>T
16g.2496177T>ACA394374184TBC1D24c.29T>A (p.Val10Glu)
n.211T>A
16g.2496177T>CCA394374186TBC1D24c.29T>C (p.Val10Ala)
n.211T>C
16g.2496177T>GCA394374188TBC1D24c.29T>G (p.Val10Gly)
n.211T>G
16g.2496178G>ACA493160078TBC1D24c.30G>A (p.Val10=)
n.212G>A
dbSNP
16g.2496178G>CCA493160080TBC1D24c.30G>C (p.Val10=)
n.212G>C
16g.2496178G=CA2202259668TBC1D24c.30G= (p.Val10=)
n.212G=
16g.2496178G>TCA493160084TBC1D24c.30G>T (p.Val10=)
n.212G>T
16g.2496179G>ACA394374190TBC1D24c.31G>A (p.Asp11Asn)
n.213G>A
16g.2496179G>CCA394374192TBC1D24c.31G>C (p.Asp11His)
n.213G>C
16g.2496179G=CA2202259669TBC1D24c.31G= (p.Asp11=)
n.213G=
16g.2496179G>TCA394374193TBC1D24c.31G>T (p.Asp11Tyr)
n.213G>T
dbSNP
16g.2496180A>CCA394374195TBC1D24c.32A>C (p.Asp11Ala)
n.214A>C
16g.2496180A>GCA394374197TBC1D24c.32A>G (p.Asp11Gly)
n.214A>G
ClinVar gnomAD v4
16g.2496180A>TCA394374198TBC1D24c.32A>T (p.Asp11Val)
n.214A>T
16g.2496181C>ACA394374201TBC1D24c.33C>A (p.Asp11Glu)
n.215C>A
16g.2496181C>GCA394374202TBC1D24c.33C>G (p.Asp11Glu)
n.215C>G
16g.2496181C>TCA493160091TBC1D24c.33C>T (p.Asp11=)
n.215C>T
16g.2496182A>CCA394374207TBC1D24c.34A>C (p.Lys12Gln)
n.216A>C
16g.2496182A>GCA394374209TBC1D24c.34A>G (p.Lys12Glu)
n.216A>G
16g.2496182A>TCA394374205TBC1D24c.34A>T (p.Lys12Ter)
n.216A>T
16g.2496183A>CCA394374212TBC1D24c.35A>C (p.Lys12Thr)
n.217A>C
16g.2496183A>GCA394374214TBC1D24c.35A>G (p.Lys12Arg)
n.217A>G
16g.2496183A>TCA394374216TBC1D24c.35A>T (p.Lys12Ile)
n.217A>T
16g.2496184A=CA2202259670TBC1D24c.36A= (p.Lys12=)
n.218A=
16g.2496184A>CCA394374219TBC1D24c.36A>C (p.Lys12Asn)
n.218A>C
16g.2496184A>GCA7843909TBC1D24c.36A>G (p.Lys12=)
n.218A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496184A>TCA394374221TBC1D24c.36A>T (p.Lys12Asn)
n.218A>T
gnomAD v4
16g.2496185G>ACA276809607TBC1D24c.37G>A (p.Asp13Asn)
n.219G>A
ClinVar dbSNP
16g.2496185G>CCA394374225TBC1D24c.37G>C (p.Asp13His)
n.219G>C
16g.2496185G=CA2202259671TBC1D24c.37G= (p.Asp13=)
n.219G=
16g.2496185G>TCA394374227TBC1D24c.37G>T (p.Asp13Tyr)
n.219G>T
16g.2496186A=CA2202259672TBC1D24c.38A= (p.Asp13=)
n.220A=
16g.2496186A>CCA394374229TBC1D24c.38A>C (p.Asp13Ala)
n.220A>C
16g.2496186A>GCA394374231TBC1D24c.38A>G (p.Asp13Gly)
n.220A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496186A>TCA394374233TBC1D24c.38A>T (p.Asp13Val)
n.220A>T
16g.2496187C>ACA394374237TBC1D24c.39C>A (p.Asp13Glu)
n.221C>A
16g.2496187C=CA2202259673TBC1D24c.39C= (p.Asp13=)
n.221C=
16g.2496187C>GCA394374238TBC1D24c.39C>G (p.Asp13Glu)
n.221C>G
16g.2496187C>TCA7843910TBC1D24c.39C>T (p.Asp13=)
n.221C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496188A>CCA394374240TBC1D24c.40A>C (p.Lys14Gln)
n.222A>C
16g.2496188A>GCA394374242TBC1D24c.40A>G (p.Lys14Glu)
n.222A>G
16g.2496188A>TCA394374244TBC1D24c.40A>T (p.Lys14Ter)
n.222A>T
16g.2496189A>CCA394374246TBC1D24c.41A>C (p.Lys14Thr)
n.223A>C
gnomAD v4
16g.2496189A>GCA394374248TBC1D24c.41A>G (p.Lys14Arg)
n.223A>G
16g.2496189A>TCA394374250TBC1D24c.41A>T (p.Lys14Met)
n.223A>T
16g.2496190G>ACA493160123TBC1D24c.42G>A (p.Lys14=)
n.224G>A
gnomAD v4
16g.2496190G>CCA394374251TBC1D24c.42G>C (p.Lys14Asn)
n.224G>C
16g.2496190G>TCA394374252TBC1D24c.42G>T (p.Lys14Asn)
n.224G>T
16g.2496191A>CCA394374255TBC1D24c.43A>C (p.Met15Leu)
n.225A>C
16g.2496191A>GCA394374257TBC1D24c.43A>G (p.Met15Val)
n.225A>G
gnomAD v4
16g.2496191A>TCA394374259TBC1D24c.43A>T (p.Met15Leu)
n.225A>T
16g.2496192T>ACA394374261TBC1D24c.44T>A (p.Met15Lys)
n.226T>A
16g.2496192T>CCA394374263TBC1D24c.44T>C (p.Met15Thr)
n.226T>C
16g.2496192T>GCA394374265TBC1D24c.44T>G (p.Met15Arg)
n.226T>G
16g.2496193G>ACA394374270TBC1D24c.45G>A (p.Met15Ile)
n.227G>A
gnomAD v4
16g.2496193G>CCA394374269TBC1D24c.45G>C (p.Met15Ile)
n.227G>C
ClinVar
16g.2496193G>TCA394374267TBC1D24c.45G>T (p.Met15Ile)
n.227G>T
16g.2496194G>ACA7843911TBC1D24c.46G>A (p.Asp16Asn)
n.228G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496194G>CCA394374273TBC1D24c.46G>C (p.Asp16His)
n.228G>C
COSMIC
16g.2496194G=CA2202259674TBC1D24c.46G= (p.Asp16=)
n.228G=
16g.2496194G>TCA394374275TBC1D24c.46G>T (p.Asp16Tyr)
n.228G>T
gnomAD v4
16g.2496195A>CCA394374278TBC1D24c.47A>C (p.Asp16Ala)
n.229A>C
16g.2496195A>GCA394374280TBC1D24c.47A>G (p.Asp16Gly)
n.229A>G
16g.2496195A>TCA394374282TBC1D24c.47A>T (p.Asp16Val)
n.229A>T
16g.2496196C>ACA394374288TBC1D24c.48C>A (p.Asp16Glu)
n.230C>A
16g.2496196C=CA2202259675TBC1D24c.48C= (p.Asp16=)
n.230C=
16g.2496196C>GCA394374286TBC1D24c.48C>G (p.Asp16Glu)
n.230C>G
16g.2496196C>TCA7843912TBC1D24c.48C>T (p.Asp16=)
n.230C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496197G>ACA7843913TBC1D24c.49G>A (p.Ala17Thr)
n.231G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496197G>CCA394374292TBC1D24c.49G>C (p.Ala17Pro)
n.231G>C
16g.2496197G=CA2202259676TBC1D24c.49G= (p.Ala17=)
n.231G=
16g.2496197G>TCA394374294TBC1D24c.49G>T (p.Ala17Ser)
n.231G>T
16g.2496198C>ACA394374297TBC1D24c.50C>A (p.Ala17Asp)
n.232C>A
16g.2496198C>GCA394374298TBC1D24c.50C>G (p.Ala17Gly)
n.232C>G
16g.2496198C>TCA394374299TBC1D24c.50C>T (p.Ala17Val)
n.232C>T
16g.2496199T>ACA493160160TBC1D24c.51T>A (p.Ala17=)
n.233T>A
16g.2496199T>CCA493160165TBC1D24c.51T>C (p.Ala17=)
n.233T>C
16g.2496199T>GCA493160162TBC1D24c.51T>G (p.Ala17=)
n.233T>G
16g.2496200G>ACA394374306TBC1D24c.52G>A (p.Ala18Thr)
n.234G>A
dbSNP gnomAD v2
16g.2496200G>CCA394374302TBC1D24c.52G>C (p.Ala18Pro)
n.234G>C
16g.2496200G=CA2202259677TBC1D24c.52G= (p.Ala18=)
n.234G=
16g.2496200G>TCA394374304TBC1D24c.52G>T (p.Ala18Ser)
n.234G>T
16g.2496201C>ACA394374307TBC1D24c.53C>A (p.Ala18Asp)
n.235C>A
16g.2496201C>GCA394374308TBC1D24c.53C>G (p.Ala18Gly)
n.235C>G
16g.2496201C>TCA394374309TBC1D24c.53C>T (p.Ala18Val)
n.235C>T
gnomAD v4
16g.2496202C>ACA493160175TBC1D24c.54C>A (p.Ala18=)
n.236C>A
16g.2496202C=CA2202259678TBC1D24c.54C= (p.Ala18=)
n.236C=
16g.2496202C>GCA493160178TBC1D24c.54C>G (p.Ala18=)
n.236C>G
16g.2496202C>TCA493160179TBC1D24c.54C>T (p.Ala18=)
n.236C>T
dbSNP
16g.2496203A=CA2202259679TBC1D24c.55A= (p.Ile19=)
n.237A=
16g.2496203A>CCA394374312TBC1D24c.55A>C (p.Ile19Leu)
n.237A>C
16g.2496203A>GCA394374313TBC1D24c.55A>G (p.Ile19Val)
n.237A>G
dbSNP gnomAD v3 gnomAD v4
16g.2496203A>TCA394374314TBC1D24c.55A>T (p.Ile19Phe)
n.237A>T
16g.2496204delCA2573152001TBC1D24c.56del (p.Ile19ThrfsTer9)
n.238del
ClinVar dbSNP
16g.2496204T>ACA394374317TBC1D24c.56T>A (p.Ile19Asn)
n.238T>A
16g.2496204T>CCA394374318TBC1D24c.56T>C (p.Ile19Thr)
n.238T>C
16g.2496204T>GCA394374319TBC1D24c.56T>G (p.Ile19Ser)
n.238T>G
16g.2496205C>ACA493160195TBC1D24c.57C>A (p.Ile19=)
n.239C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496205C=CA2202259680TBC1D24c.57C= (p.Ile19=)
n.239C=
16g.2496205C>GCA394374322TBC1D24c.57C>G (p.Ile19Met)
n.239C>G
16g.2496205C>TCA493160199TBC1D24c.57C>T (p.Ile19=)
n.239C>T
gnomAD v4
16g.2496206C>ACA394374324TBC1D24c.58C>A (p.Gln20Lys)
n.240C>A
16g.2496206C=CA2202259681TBC1D24c.58C= (p.Gln20=)
n.240C=
16g.2496206C>GCA266220TBC1D24c.58C>G (p.Gln20Glu)
n.240C>G
ClinVar dbSNP
16g.2496206C>TCA7843914TBC1D24c.58C>T (p.Gln20Ter)
n.240C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496207A>CCA394374329TBC1D24c.59A>C (p.Gln20Pro)
n.241A>C
16g.2496207A>GCA394374333TBC1D24c.59A>G (p.Gln20Arg)
n.241A>G
gnomAD v4
16g.2496207A>TCA394374331TBC1D24c.59A>T (p.Gln20Leu)
n.241A>T
16g.2496208G>ACA493160214TBC1D24c.60G>A (p.Gln20=)
n.242G>A
16g.2496208G>CCA394374335TBC1D24c.60G>C (p.Gln20His)
n.242G>C
16g.2496208G>TCA394374337TBC1D24c.60G>T (p.Gln20His)
n.242G>T
16g.2496209G>ACA394374339TBC1D24c.61G>A (p.Asp21Asn)
n.243G>A
16g.2496209G>CCA394374341TBC1D24c.61G>C (p.Asp21His)
n.243G>C
16g.2496209G>TCA394374343TBC1D24c.61G>T (p.Asp21Tyr)
n.243G>T
16g.2496210A>CCA394374345TBC1D24c.62A>C (p.Asp21Ala)
n.244A>C
16g.2496210A>GCA394374347TBC1D24c.62A>G (p.Asp21Gly)
n.244A>G
16g.2496210A>TCA394374349TBC1D24c.62A>T (p.Asp21Val)
n.244A>T
gnomAD v4
16g.2496211C>ACA394374352TBC1D24c.63C>A (p.Asp21Glu)
n.245C>A
16g.2496211C>GCA394374354TBC1D24c.63C>G (p.Asp21Glu)
n.245C>G
16g.2496211C>TCA493160238TBC1D24c.63C>T (p.Asp21=)
n.245C>T
gnomAD v4 COSMIC
16g.2496212C>ACA394374356TBC1D24c.64C>A (p.Leu22Met)
n.246C>A
16g.2496212C=CA2202259682TBC1D24c.64C= (p.Leu22=)
n.246C=
16g.2496212C>GCA394374358TBC1D24c.64C>G (p.Leu22Val)
n.246C>G
16g.2496212C>TCA7843915TBC1D24c.64C>T (p.Leu22=)
n.246C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496213T>ACA394374366TBC1D24c.65T>A (p.Leu22Gln)
n.247T>A
16g.2496213T>CCA394374362TBC1D24c.65T>C (p.Leu22Pro)
n.247T>C
16g.2496213T>GCA394374364TBC1D24c.65T>G (p.Leu22Arg)
n.247T>G
16g.2496214G>ACA493160253TBC1D24c.66G>A (p.Leu22=)
n.248G>A
gnomAD v4
16g.2496214G>CCA493160255TBC1D24c.66G>C (p.Leu22=)
n.248G>C
16g.2496214G>TCA493160256TBC1D24c.66G>T (p.Leu22=)
n.248G>T
16g.2496215G>ACA394374368TBC1D24c.67G>A (p.Gly23Arg)
n.249G>A
16g.2496215G>CCA394374371TBC1D24c.67G>C (p.Gly23Arg)
n.249G>C
ClinVar dbSNP
16g.2496215G>TCA394374374TBC1D24c.67G>T (p.Gly23Trp)
n.249G>T
16g.2496216G>ACA394374376TBC1D24c.68G>A (p.Gly23Glu)
n.250G>A
ClinVar dbSNP
16g.2496216G>CCA394374377TBC1D24c.68G>C (p.Gly23Ala)
n.250G>C
16g.2496216G=CA2202259683TBC1D24c.68G= (p.Gly23=)
n.250G=
16g.2496216G>TCA394374379TBC1D24c.68G>T (p.Gly23Val)
n.250G>T
16g.2496217G>ACA493160273TBC1D24c.69G>A (p.Gly23=)
n.251G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496217G>CCA493160275TBC1D24c.69G>C (p.Gly23=)
n.251G>C
16g.2496217G=CA2202259684TBC1D24c.69G= (p.Gly23=)
n.251G=
16g.2496217G>TCA493160278TBC1D24c.69G>T (p.Gly23=)
n.251G>T
16g.2496218C>ACA394374382TBC1D24c.70C>A (p.Pro24Thr)
n.252C>A
gnomAD v4
16g.2496218C>GCA394374383TBC1D24c.70C>G (p.Pro24Ala)
n.252C>G
16g.2496218C>TCA394374384TBC1D24c.70C>T (p.Pro24Ser)
n.252C>T
16g.2496219C>ACA394374387TBC1D24c.71C>A (p.Pro24His)
n.253C>A
16g.2496219C>GCA394374388TBC1D24c.71C>G (p.Pro24Arg)
n.253C>G
16g.2496219C>TCA394374391TBC1D24c.71C>T (p.Pro24Leu)
n.253C>T
16g.2496220C>ACA493160303TBC1D24c.72C>A (p.Pro24=)
n.254C>A
16g.2496220C=CA2202259685TBC1D24c.72C= (p.Pro24=)
n.254C=
16g.2496220C>GCA493160302TBC1D24c.72C>G (p.Pro24=)
n.254C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496220C>TCA493160301TBC1D24c.72C>T (p.Pro24=)
n.254C>T
dbSNP
16g.2496221A>CCA394374396TBC1D24c.73A>C (p.Lys25Gln)
n.255A>C
16g.2496221A>GCA394374398TBC1D24c.73A>G (p.Lys25Glu)
n.255A>G
gnomAD v4
16g.2496221A>TCA394374393TBC1D24c.73A>T (p.Lys25Ter)
n.255A>T
16g.2496222A=CA2202259686TBC1D24c.74A= (p.Lys25=)
n.256A=
16g.2496222A>CCA394374399TBC1D24c.74A>C (p.Lys25Thr)
n.256A>C
16g.2496222A>GCA7843916TBC1D24c.74A>G (p.Lys25Arg)
n.256A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496222A>TCA394374400TBC1D24c.74A>T (p.Lys25Met)
n.256A>T
16g.2496223G>ACA493160320TBC1D24c.75G>A (p.Lys25=)
n.257G>A
16g.2496223G>CCA394374404TBC1D24c.75G>C (p.Lys25Asn)
n.257G>C
16g.2496223G>TCA394374406TBC1D24c.75G>T (p.Lys25Asn)
n.257G>T
gnomAD v4
16g.2496224G>ACA394374407TBC1D24c.76G>A (p.Glu26Lys)
n.258G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496224G>CCA394374408TBC1D24c.76G>C (p.Glu26Gln)
n.258G>C
16g.2496224G=CA2202259689TBC1D24c.76G= (p.Glu26=)
n.258G=
16g.2496224G>TCA7843917TBC1D24c.76G>T (p.Glu26Ter)
n.258G>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496224_2496225delinsGACA2202259688TBC1D24c.76_77delinsGA (p.Glu26=)
n.258_259delinsGA
16g.2496224_2496225delinsTTCA2202259687TBC1D24c.76_77delinsTT (p.Glu26Leu)
n.258_259delinsTT
ClinVar dbSNP
16g.2496225A=CA2202259690TBC1D24c.77A= (p.Glu26=)
n.259A=
16g.2496225A>CCA394374411TBC1D24c.77A>C (p.Glu26Ala)
n.259A>C
ClinVar
16g.2496225A>GCA394374413TBC1D24c.77A>G (p.Glu26Gly)
n.259A>G
16g.2496225A>TCA7843918TBC1D24c.77A>T (p.Glu26Val)
n.259A>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496226G>ACA493160335TBC1D24c.78G>A (p.Glu26=)
n.260G>A
16g.2496226G>CCA394374419TBC1D24c.78G>C (p.Glu26Asp)
n.260G>C
16g.2496226G>TCA394374421TBC1D24c.78G>T (p.Glu26Asp)
n.260G>T
16g.2496227C>ACA394374423TBC1D24c.79C>A (p.Leu27Met)
n.261C>A
16g.2496227C>GCA394374424TBC1D24c.79C>G (p.Leu27Val)
n.261C>G
16g.2496227C>TCA493160342TBC1D24c.79C>T (p.Leu27=)
n.261C>T
gnomAD v4
16g.2496228T>ACA394374428TBC1D24c.80T>A (p.Leu27Gln)
n.262T>A
16g.2496228T>CCA394374429TBC1D24c.80T>C (p.Leu27Pro)
n.262T>C
16g.2496228T>GCA394374431TBC1D24c.80T>G (p.Leu27Arg)
n.262T>G
16g.2496229G>ACA493160347TBC1D24c.81G>A (p.Leu27=)
n.263G>A
dbSNP
16g.2496229G>CCA493160350TBC1D24c.81G>C (p.Leu27=)
n.263G>C
16g.2496229G=CA2202259691TBC1D24c.81G= (p.Leu27=)
n.263G=
16g.2496229G>TCA493160353TBC1D24c.81G>T (p.Leu27=)
n.263G>T
16g.2496230delCA2631209014TBC1D24c.82del (p.Ser28AlafsTer8)
n.264del
gnomAD v4
16g.2496230A>CCA394374433TBC1D24c.82A>C (p.Ser28Arg)
n.264A>C
16g.2496230A>GCA394374438TBC1D24c.82A>G (p.Ser28Gly)
n.264A>G
gnomAD v4
16g.2496230A>TCA394374435TBC1D24c.82A>T (p.Ser28Cys)
n.264A>T
16g.2496231G>ACA394374441TBC1D24c.83G>A (p.Ser28Asn)
n.265G>A
gnomAD v4
16g.2496231G>CCA394374442TBC1D24c.83G>C (p.Ser28Thr)
n.265G>C
16g.2496231G=CA2202259692TBC1D24c.83G= (p.Ser28=)
n.265G=
16g.2496231G>TCA394374445TBC1D24c.83G>T (p.Ser28Ile)
n.265G>T
dbSNP
16g.2496232C>ACA394374449TBC1D24c.84C>A (p.Ser28Arg)
n.266C>A
16g.2496232C>GCA394374450TBC1D24c.84C>G (p.Ser28Arg)
n.266C>G
16g.2496232C>TCA493160373TBC1D24c.84C>T (p.Ser28=)
n.266C>T
16g.2496233T>ACA394374453TBC1D24c.85T>A (p.Cys29Ser)
n.267T>A
16g.2496233T>CCA394374455TBC1D24c.85T>C (p.Cys29Arg)
n.267T>C
gnomAD v4
16g.2496233T>GCA394374456TBC1D24c.85T>G (p.Cys29Gly)
n.267T>G
16g.2496234G>ACA394374458TBC1D24c.86G>A (p.Cys29Tyr)
n.268G>A
16g.2496234G>CCA394374460TBC1D24c.86G>C (p.Cys29Ser)
n.268G>C
16g.2496234G=CA2202259693TBC1D24c.86G= (p.Cys29=)
n.268G=
16g.2496234G>TCA394374462TBC1D24c.86G>T (p.Cys29Phe)
n.268G>T
ClinVar dbSNP
16g.2496235C>ACA394374464TBC1D24c.87C>A (p.Cys29Ter)
n.269C>A
16g.2496235C=CA2202259694TBC1D24c.87C= (p.Cys29=)
n.269C=
16g.2496235C>GCA394374467TBC1D24c.87C>G (p.Cys29Trp)
n.269C>G
16g.2496235C>TCA7843919TBC1D24c.87C>T (p.Cys29=)
n.269C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496236A=CA2202259695TBC1D24c.88A= (p.Thr30=)
n.270A=
16g.2496236A>CCA394374469TBC1D24c.88A>C (p.Thr30Pro)
n.270A>C
16g.2496236A>GCA394374471TBC1D24c.88A>G (p.Thr30Ala)
n.270A>G
ClinVar dbSNP gnomAD v4
16g.2496236A>TCA394374473TBC1D24c.88A>T (p.Thr30Ser)
n.270A>T
16g.2496237C>ACA394374475TBC1D24c.89C>A (p.Thr30Asn)
n.271C>A
16g.2496237C=CA2202259696TBC1D24c.89C= (p.Thr30=)
n.271C=
16g.2496237C>GCA394374478TBC1D24c.89C>G (p.Thr30Ser)
n.271C>G
dbSNP
16g.2496237C>TCA7843920TBC1D24c.89C>T (p.Thr30Ile)
n.271C>T
dbSNP ExAC gnomAD v4
16g.2496238T>ACA493160406TBC1D24c.90T>A (p.Thr30=)
n.272T>A
16g.2496238T>CCA7843921TBC1D24c.90T>C (p.Thr30=)
n.272T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496238T>GCA493160411TBC1D24c.90T>G (p.Thr30=)
n.272T>G
16g.2496238T=CA2202259697TBC1D24c.90T= (p.Thr30=)
n.272T=
16g.2496239G>ACA394374482TBC1D24c.91G>A (p.Glu31Lys)
n.273G>A
16g.2496239G>CCA394374484TBC1D24c.91G>C (p.Glu31Gln)
n.273G>C
16g.2496239G>TCA394374486TBC1D24c.91G>T (p.Glu31Ter)
n.273G>T
16g.2496240A>CCA394374487TBC1D24c.92A>C (p.Glu31Ala)
n.274A>C
16g.2496240A>GCA394374488TBC1D24c.92A>G (p.Glu31Gly)
n.274A>G
16g.2496240A>TCA394374490TBC1D24c.92A>T (p.Glu31Val)
n.274A>T
16g.2496241A>CCA394374493TBC1D24c.93A>C (p.Glu31Asp)
n.275A>C
16g.2496241A>GCA493160417TBC1D24c.93A>G (p.Glu31=)
n.275A>G
16g.2496241A>TCA394374494TBC1D24c.93A>T (p.Glu31Asp)
n.275A>T
16g.2496242C>ACA394374495TBC1D24c.94C>A (p.Leu32Met)
n.276C>A
16g.2496242C=CA2202259698TBC1D24c.94C= (p.Leu32=)
n.276C=
16g.2496242C>GCA394374497TBC1D24c.94C>G (p.Leu32Val)
n.276C>G
16g.2496242C>TCA493160423TBC1D24c.94C>T (p.Leu32=)
n.276C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496243T>ACA394374498TBC1D24c.95T>A (p.Leu32Gln)
n.277T>A
16g.2496243T>CCA394374500TBC1D24c.95T>C (p.Leu32Pro)
n.277T>C
16g.2496243T>GCA394374502TBC1D24c.95T>G (p.Leu32Arg)
n.277T>G
ClinVar dbSNP
16g.2496244G>ACA493160432TBC1D24c.96G>A (p.Leu32=)
n.278G>A
16g.2496244G>CCA493160437TBC1D24c.96G>C (p.Leu32=)
n.278G>C
16g.2496244G=CA2202259699TBC1D24c.96G= (p.Leu32=)
n.278G=
16g.2496244G>TCA276809608TBC1D24c.96G>T (p.Leu32=)
n.278G>T
dbSNP gnomAD v4
16g.2496245C>ACA394374504TBC1D24c.97C>A (p.Gln33Lys)
n.279C>A
gnomAD v4
16g.2496245C=CA2202259700TBC1D24c.97C= (p.Gln33=)
n.279C=
16g.2496245C>GCA394374506TBC1D24c.97C>G (p.Gln33Glu)
n.279C>G
16g.2496245C>TCA394374508TBC1D24c.97C>T (p.Gln33Ter)
n.279C>T
dbSNP
16g.2496246delCA2631209043TBC1D24c.98del (p.Gln33ArgfsTer3)
n.280del
gnomAD v4
16g.2496246A=CA2202259701TBC1D24c.98A= (p.Gln33=)
n.280A=
16g.2496246A>CCA394374510TBC1D24c.98A>C (p.Gln33Pro)
n.280A>C
dbSNP
16g.2496246A>GCA394374511TBC1D24c.98A>G (p.Gln33Arg)
n.280A>G
gnomAD v4
16g.2496246A>TCA394374512TBC1D24c.98A>T (p.Gln33Leu)
n.280A>T
16g.2496247G>ACA493160442TBC1D24c.99G>A (p.Gln33=)
n.281G>A
16g.2496247G>CCA394374516TBC1D24c.99G>C (p.Gln33His)
n.281G>C
16g.2496247G=CA2202259702TBC1D24c.99G= (p.Gln33=)
n.281G=
16g.2496247G>TCA394374514TBC1D24c.99G>T (p.Gln33His)
n.281G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496248G>ACA394374518TBC1D24c.100G>A (p.Glu34Lys)
n.282G>A
16g.2496248G>CCA394374522TBC1D24c.100G>C (p.Glu34Gln)
n.282G>C
16g.2496248G>TCA394374521TBC1D24c.100G>T (p.Glu34Ter)
n.282G>T
16g.2496249A>CCA394374523TBC1D24c.101A>C (p.Glu34Ala)
n.283A>C
16g.2496249A>GCA394374524TBC1D24c.101A>G (p.Glu34Gly)
n.283A>G
16g.2496249A>TCA394374525TBC1D24c.101A>T (p.Glu34Val)
n.283A>T
16g.2496250A=CA2202259703TBC1D24c.102A= (p.Glu34=)
n.284A=
16g.2496250A>CCA394374528TBC1D24c.102A>C (p.Glu34Asp)
n.284A>C
16g.2496250A>GCA493160453TBC1D24c.102A>G (p.Glu34=)
n.284A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496250A>TCA394374530TBC1D24c.102A>T (p.Glu34Asp)
n.284A>T
16g.2496251C>ACA394374533TBC1D24c.103C>A (p.Leu35Met)
n.285C>A
16g.2496251C>GCA394374535TBC1D24c.103C>G (p.Leu35Val)
n.285C>G
16g.2496251C>TCA493160457TBC1D24c.103C>T (p.Leu35=)
n.285C>T
16g.2496252T>ACA394374536TBC1D24c.104T>A (p.Leu35Gln)
n.286T>A
16g.2496252T>CCA394374538TBC1D24c.104T>C (p.Leu35Pro)
n.286T>C
COSMIC
16g.2496252T>GCA394374540TBC1D24c.104T>G (p.Leu35Arg)
n.286T>G
16g.2496253G>ACA493366520TBC1D24c.105G>A (p.Leu35=)
n.287G>A
gnomAD v4
16g.2496253G>CCA493366522TBC1D24c.105G>C (p.Leu35=)
n.287G>C
16g.2496253G>TCA493366521TBC1D24c.105G>T (p.Leu35=)
n.287G>T
16g.2496254A>CCA394374542TBC1D24c.106A>C (p.Lys36Gln)
n.288A>C
16g.2496254A>GCA394374544TBC1D24c.106A>G (p.Lys36Glu)
n.288A>G
16g.2496254A>TCA394374546TBC1D24c.106A>T (p.Lys36Ter)
n.288A>T
16g.2496255A>CCA394374548TBC1D24c.107A>C (p.Lys36Thr)
n.289A>C
16g.2496255A>GCA394374552TBC1D24c.107A>G (p.Lys36Arg)
n.289A>G
16g.2496255A>TCA394374550TBC1D24c.107A>T (p.Lys36Met)
n.289A>T
16g.2496256G>ACA493366523TBC1D24c.108G>A (p.Lys36=)
n.290G>A
gnomAD v4
16g.2496256G>CCA394374554TBC1D24c.108G>C (p.Lys36Asn)
n.290G>C
16g.2496256G>TCA394374556TBC1D24c.108G>T (p.Lys36Asn)
n.290G>T
16g.2496257C>ACA394374558TBC1D24c.109C>A (p.Gln37Lys)
n.291C>A
16g.2496257C>GCA394374560TBC1D24c.109C>G (p.Gln37Glu)
n.291C>G
16g.2496257C>TCA394374562TBC1D24c.109C>T (p.Gln37Ter)
n.291C>T
16g.2496258A>CCA394374565TBC1D24c.110A>C (p.Gln37Pro)
n.292A>C
16g.2496258A>GCA394374567TBC1D24c.110A>G (p.Gln37Arg)
n.292A>G
16g.2496258A>TCA394374569TBC1D24c.110A>T (p.Gln37Leu)
n.292A>T
16g.2496259G>ACA493366524TBC1D24c.111G>A (p.Gln37=)
n.293G>A
16g.2496259G>CCA394374570TBC1D24c.111G>C (p.Gln37His)
n.293G>C
16g.2496259G>TCA394374571TBC1D24c.111G>T (p.Gln37His)
n.293G>T
16g.2496260C>ACA394374577TBC1D24c.112C>A (p.Leu38Met)
n.294C>A
16g.2496260C>GCA394374574TBC1D24c.112C>G (p.Leu38Val)
n.294C>G
16g.2496260C>TCA493366525TBC1D24c.112C>T (p.Leu38=)
n.294C>T
16g.2496261T>ACA394374579TBC1D24c.113T>A (p.Leu38Gln)
n.295T>A
16g.2496261T>CCA394374581TBC1D24c.113T>C (p.Leu38Pro)
n.295T>C
16g.2496261T>GCA394374583TBC1D24c.113T>G (p.Leu38Arg)
n.295T>G
16g.2496262G>ACA493366526TBC1D24c.114G>A (p.Leu38=)
n.296G>A
16g.2496262G>CCA493366527TBC1D24c.114G>C (p.Leu38=)
n.296G>C
16g.2496262G>TCA493366528TBC1D24c.114G>T (p.Leu38=)
n.296G>T
16g.2496263G>ACA7843922TBC1D24c.115G>A (p.Ala39Thr)
n.297G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496263G>CCA394374586TBC1D24c.115G>C (p.Ala39Pro)
n.297G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496263G=CA2202259704TBC1D24c.115G= (p.Ala39=)
n.297G=
16g.2496263G>TCA394374588TBC1D24c.115G>T (p.Ala39Ser)
n.297G>T
16g.2496264C>ACA7843923TBC1D24c.116C>A (p.Ala39Glu)
n.298C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496264C=CA2202259705TBC1D24c.116C= (p.Ala39=)
n.298C=
16g.2496264C>GCA394374590TBC1D24c.116C>G (p.Ala39Gly)
n.298C>G
16g.2496264C>TCA7843924TBC1D24c.116C>T (p.Ala39Val)
n.298C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496265G>ACA7843925TBC1D24c.117G>A (p.Ala39=)
n.299G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496265G>CCA493366529TBC1D24c.117G>C (p.Ala39=)
n.299G>C
16g.2496265G=CA2202259706TBC1D24c.117G= (p.Ala39=)
n.299G=
16g.2496265G>TCA493366530TBC1D24c.117G>T (p.Ala39=)
n.299G>T
16g.2496266C>ACA394374595TBC1D24c.118C>A (p.Arg40Ser)
n.300C>A
16g.2496266C=CA2202259707TBC1D24c.118C= (p.Arg40=)
n.300C=
16g.2496266C>GCA394374598TBC1D24c.118C>G (p.Arg40Gly)
n.300C>G
dbSNP gnomAD v4
16g.2496266C>TCA345418TBC1D24c.118C>T (p.Arg40Cys)
n.300C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496267G>ACA394374601TBC1D24c.119G>A (p.Arg40His)
n.301G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496267G>CCA7843926TBC1D24c.119G>C (p.Arg40Pro)
n.301G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496267G=CA2202259708TBC1D24c.119G= (p.Arg40=)
n.301G=
16g.2496267G>TCA347136TBC1D24c.119G>T (p.Arg40Leu)
n.301G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496268C>ACA493366531TBC1D24c.120C>A (p.Arg40=)
n.302C>A
16g.2496268C>GCA493366532TBC1D24c.120C>G (p.Arg40=)
n.302C>G
16g.2496268C>TCA493366533TBC1D24c.120C>T (p.Arg40=)
n.302C>T
16g.2496269C>ACA394374604TBC1D24c.121C>A (p.Gln41Lys)
n.303C>A
16g.2496269C=CA2202259709TBC1D24c.121C= (p.Gln41=)
n.303C=
16g.2496269C>GCA394374606TBC1D24c.121C>G (p.Gln41Glu)
n.303C>G
16g.2496269C>TCA16608135TBC1D24c.121C>T (p.Gln41Ter)
n.303C>T
ClinVar dbSNP
16g.2496270A>CCA394374609TBC1D24c.122A>C (p.Gln41Pro)
n.304A>C
16g.2496270A>GCA394374610TBC1D24c.122A>G (p.Gln41Arg)
n.304A>G
16g.2496270A>TCA394374612TBC1D24c.122A>T (p.Gln41Leu)
n.304A>T
16g.2496271G>ACA493366534TBC1D24c.123G>A (p.Gln41=)
n.305G>A
16g.2496271G>CCA394374614TBC1D24c.123G>C (p.Gln41His)
n.305G>C
16g.2496271G=CA2202259710TBC1D24c.123G= (p.Gln41=)
n.305G=
16g.2496271G>TCA7843927TBC1D24c.123G>T (p.Gln41His)
n.305G>T
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched