Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496332A=CA2202259741TBC1D24c.184A= (p.Ile62=)
n.366A=
16g.2496332A>CCA394374872TBC1D24c.184A>C (p.Ile62Leu)
n.366A>C
16g.2496332A>GCA7843944TBC1D24c.184A>G (p.Ile62Val)
n.366A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496332A>TCA394374877TBC1D24c.184A>T (p.Ile62Phe)
n.366A>T
dbSNP
16g.2496333T>ACA394374881TBC1D24c.185T>A (p.Ile62Asn)
n.367T>A
16g.2496333T>CCA394374883TBC1D24c.185T>C (p.Ile62Thr)
n.367T>C
16g.2496333T>GCA394374886TBC1D24c.185T>G (p.Ile62Ser)
n.367T>G
16g.2496334T>ACA276809610TBC1D24c.186T>A (p.Ile62=)
n.368T>A
dbSNP gnomAD v4
16g.2496334T>CCA493366574TBC1D24c.186T>C (p.Ile62=)
n.368T>C
dbSNP
16g.2496334T>GCA394374890TBC1D24c.186T>G (p.Ile62Met)
n.368T>G
16g.2496334T=CA2202259742TBC1D24c.186T= (p.Ile62=)
n.368T=
16g.2496335C>ACA394374894TBC1D24c.187C>A (p.Pro63Thr)
n.369C>A
16g.2496335C=CA2202259743TBC1D24c.187C= (p.Pro63=)
n.369C=
16g.2496335C>GCA394374897TBC1D24c.187C>G (p.Pro63Ala)
n.369C>G
16g.2496335C>TCA276809612TBC1D24c.187C>T (p.Pro63Ser)
n.369C>T
ClinVar dbSNP
16g.2496337dupCA276809611TBC1D24c.189dup (p.Cys64LeufsTer7)
n.371dup
dbSNP
16g.2496336C>ACA394374902TBC1D24c.188C>A (p.Pro63His)
n.370C>A
16g.2496336C=CA2202259744TBC1D24c.188C= (p.Pro63=)
n.370C=
16g.2496336C>GCA394374904TBC1D24c.188C>G (p.Pro63Arg)
n.370C>G
dbSNP
16g.2496336C>TCA394374906TBC1D24c.188C>T (p.Pro63Leu)
n.370C>T
gnomAD v4
16g.2496337C>ACA493366575TBC1D24c.189C>A (p.Pro63=)
n.371C>A
16g.2496337C=CA2202259745TBC1D24c.189C= (p.Pro63=)
n.371C=
16g.2496337C>GCA493366576TBC1D24c.189C>G (p.Pro63=)
n.371C>G
16g.2496337C>TCA7843945TBC1D24c.189C>T (p.Pro63=)
n.371C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496338T>ACA394374910TBC1D24c.190T>A (p.Cys64Ser)
n.372T>A
16g.2496338T>CCA394374912TBC1D24c.190T>C (p.Cys64Arg)
n.372T>C
16g.2496338T>GCA394374914TBC1D24c.190T>G (p.Cys64Gly)
n.372T>G
16g.2496339G>ACA394374916TBC1D24c.191G>A (p.Cys64Tyr)
n.373G>A
16g.2496339G>CCA394374917TBC1D24c.191G>C (p.Cys64Ser)
n.373G>C
16g.2496339G>TCA394374918TBC1D24c.191G>T (p.Cys64Phe)
n.373G>T
16g.2496340C>ACA16620168TBC1D24c.192C>A (p.Cys64Ter)
n.374C>A
ClinVar dbSNP gnomAD v4
16g.2496340C=CA2202259746TBC1D24c.192C= (p.Cys64=)
n.374C=
16g.2496340C>GCA394374921TBC1D24c.192C>G (p.Cys64Trp)
n.374C>G
16g.2496340C>TCA10583389TBC1D24c.192C>T (p.Cys64=)
n.374C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496341C>ACA394374924TBC1D24c.193C>A (p.Arg65Ser)
n.375C>A
16g.2496341C=CA2202259747TBC1D24c.193C= (p.Arg65=)
n.375C=
16g.2496341C>GCA394374926TBC1D24c.193C>G (p.Arg65Gly)
n.375C>G
16g.2496341C>TCA7843946TBC1D24c.193C>T (p.Arg65Cys)
n.375C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496342G>ACA394374933TBC1D24c.194G>A (p.Arg65His)
n.376G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496342G>CCA394374931TBC1D24c.194G>C (p.Arg65Pro)
n.376G>C
16g.2496342G=CA2202259748TBC1D24c.194G= (p.Arg65=)
n.376G=
16g.2496342G>TCA10581511TBC1D24c.194G>T (p.Arg65Leu)
n.376G>T
ClinVar dbSNP
16g.2496343C>ACA493366577TBC1D24c.195C>A (p.Arg65=)
n.377C>A
16g.2496343C>GCA493366578TBC1D24c.195C>G (p.Arg65=)
n.377C>G
16g.2496343C>TCA493366579TBC1D24c.195C>T (p.Arg65=)
n.377C>T
16g.2496344A>CCA394374939TBC1D24c.196A>C (p.Thr66Pro)
n.378A>C
16g.2496344A>GCA394374935TBC1D24c.196A>G (p.Thr66Ala)
n.378A>G
16g.2496344A>TCA394374937TBC1D24c.196A>T (p.Thr66Ser)
n.378A>T
16g.2496345C>ACA394374942TBC1D24c.197C>A (p.Thr66Lys)
n.379C>A
16g.2496345C=CA2202259749TBC1D24c.197C= (p.Thr66=)
n.379C=
16g.2496345C>GCA394374944TBC1D24c.197C>G (p.Thr66Arg)
n.379C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496345C>TCA7843947TBC1D24c.197C>T (p.Thr66Met)
n.379C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496346G>ACA7843948TBC1D24c.198G>A (p.Thr66=)
n.380G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496346G>CCA493366580TBC1D24c.198G>C (p.Thr66=)
n.380G>C
16g.2496346G=CA2202259750TBC1D24c.198G= (p.Thr66=)
n.380G=
16g.2496346G>TCA493366581TBC1D24c.198G>T (p.Thr66=)
n.380G>T
16g.2496347G>ACA394374949TBC1D24c.199G>A (p.Val67Ile)
n.381G>A
16g.2496347G>CCA7843949TBC1D24c.199G>C (p.Val67Leu)
n.381G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496347G=CA2202259751TBC1D24c.199G= (p.Val67=)
n.381G=
16g.2496347G>TCA394374951TBC1D24c.199G>T (p.Val67Phe)
n.381G>T
16g.2496348T>ACA394374954TBC1D24c.200T>A (p.Val67Asp)
n.382T>A
16g.2496348T>CCA394374956TBC1D24c.200T>C (p.Val67Ala)
n.382T>C
16g.2496348T>GCA394374958TBC1D24c.200T>G (p.Val67Gly)
n.382T>G
16g.2496349C>ACA493366583TBC1D24c.201C>A (p.Val67=)
n.383C>A
16g.2496349C>GCA493366584TBC1D24c.201C>G (p.Val67=)
n.383C>G
16g.2496349C>TCA493366582TBC1D24c.201C>T (p.Val67=)
n.383C>T
16g.2496350A>CCA394374961TBC1D24c.202A>C (p.Thr68Pro)
n.384A>C
16g.2496350A>GCA394374963TBC1D24c.202A>G (p.Thr68Ala)
n.384A>G
16g.2496350A>TCA394374960TBC1D24c.202A>T (p.Thr68Ser)
n.384A>T
16g.2496351C>ACA394374965TBC1D24c.203C>A (p.Thr68Lys)
n.385C>A
16g.2496351C=CA2202259752TBC1D24c.203C= (p.Thr68=)
n.385C=
16g.2496351C>GCA394374967TBC1D24c.203C>G (p.Thr68Arg)
n.385C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496351C>TCA276809613TBC1D24c.203C>T (p.Thr68Met)
n.385C>T
dbSNP gnomAD v4 COSMIC
16g.2496352G>ACA293860TBC1D24c.204G>A (p.Thr68=)
n.386G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496352G>CCA493366585TBC1D24c.204G>C (p.Thr68=)
n.386G>C
16g.2496352G=CA2202259753TBC1D24c.204G= (p.Thr68=)
n.386G=
16g.2496352G>TCA493366586TBC1D24c.204G>T (p.Thr68=)
n.386G>T
16g.2496353C>ACA394374974TBC1D24c.205C>A (p.Pro69Thr)
n.387C>A
16g.2496353C>GCA394374973TBC1D24c.205C>G (p.Pro69Ala)
n.387C>G
16g.2496353C>TCA394374970TBC1D24c.205C>T (p.Pro69Ser)
n.387C>T
16g.2496354C>ACA394374977TBC1D24c.206C>A (p.Pro69His)
n.388C>A
16g.2496354C=CA2202259754TBC1D24c.206C= (p.Pro69=)
n.388C=
16g.2496354C>GCA394374979TBC1D24c.206C>G (p.Pro69Arg)
n.388C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496354C>TCA394374981TBC1D24c.206C>T (p.Pro69Leu)
n.388C>T
16g.2496355T>ACA493366587TBC1D24c.207T>A (p.Pro69=)
n.389T>A
16g.2496355T>CCA289066TBC1D24c.207T>C (p.Pro69=)
n.389T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496355T>GCA493366588TBC1D24c.207T>G (p.Pro69=)
n.389T>G
16g.2496355T=CA2202259755TBC1D24c.207T= (p.Pro69=)
n.389T=
16g.2496356G>ACA394374983TBC1D24c.208G>A (p.Asp70Asn)
n.390G>A
16g.2496356G>CCA394374985TBC1D24c.208G>C (p.Asp70His)
n.390G>C
COSMIC
16g.2496356G=CA2202259756TBC1D24c.208G= (p.Asp70=)
n.390G=
16g.2496356G>TCA345451TBC1D24c.208G>T (p.Asp70Tyr)
n.390G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496357A>CCA394374991TBC1D24c.209A>C (p.Asp70Ala)
n.391A>C
gnomAD v4
16g.2496357A>GCA394374993TBC1D24c.209A>G (p.Asp70Gly)
n.391A>G
16g.2496357A>TCA394374989TBC1D24c.209A>T (p.Asp70Val)
n.391A>T
16g.2496358C>ACA394374994TBC1D24c.210C>A (p.Asp70Glu)
n.392C>A
ClinVar dbSNP gnomAD v4
16g.2496358C=CA2202259757TBC1D24c.210C= (p.Asp70=)
n.392C=
16g.2496358C>GCA394374997TBC1D24c.210C>G (p.Asp70Glu)
n.392C>G
16g.2496358C>TCA7843950TBC1D24c.210C>T (p.Asp70=)
n.392C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496359G>ACA7843951TBC1D24c.211G>A (p.Ala71Thr)
n.393G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496359G>CCA394375000TBC1D24c.211G>C (p.Ala71Pro)
n.393G>C
16g.2496359G=CA2202259758TBC1D24c.211G= (p.Ala71=)
n.393G=
16g.2496359G>TCA394375001TBC1D24c.211G>T (p.Ala71Ser)
n.393G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496360C>ACA394375003TBC1D24c.212C>A (p.Ala71Asp)
n.394C>A
16g.2496360C>GCA394375005TBC1D24c.212C>G (p.Ala71Gly)
n.394C>G
16g.2496360C>TCA394375007TBC1D24c.212C>T (p.Ala71Val)
n.394C>T
16g.2496361C>ACA493366589TBC1D24c.213C>A (p.Ala71=)
n.395C>A
16g.2496361C=CA2202259759TBC1D24c.213C= (p.Ala71=)
n.395C=
16g.2496361C>GCA493366590TBC1D24c.213C>G (p.Ala71=)
n.395C>G
16g.2496361C>TCA7843952TBC1D24c.213C>T (p.Ala71=)
n.395C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496362A>CCA394375011TBC1D24c.214A>C (p.Ser72Arg)
n.396A>C
16g.2496362A>GCA394375013TBC1D24c.214A>G (p.Ser72Gly)
n.396A>G
16g.2496362A>TCA394375015TBC1D24c.214A>T (p.Ser72Cys)
n.396A>T
16g.2496363G>ACA394375020TBC1D24c.215G>A (p.Ser72Asn)
n.397G>A
ClinVar dbSNP
16g.2496363G>CCA394375019TBC1D24c.215G>C (p.Ser72Thr)
n.397G>C
16g.2496363G>TCA394375017TBC1D24c.215G>T (p.Ser72Ile)
n.397G>T
16g.2496364C>ACA394375022TBC1D24c.216C>A (p.Ser72Arg)
n.398C>A
16g.2496364C=CA2202259760TBC1D24c.216C= (p.Ser72=)
n.398C=
16g.2496364C>GCA394375024TBC1D24c.216C>G (p.Ser72Arg)
n.398C>G
dbSNP gnomAD v2 gnomAD v4
16g.2496364C>TCA7843953TBC1D24c.216C>T (p.Ser72=)
n.398C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496365G>ACA7843954TBC1D24c.217G>A (p.Val73Met)
n.399G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496365G>CCA394375027TBC1D24c.217G>C (p.Val73Leu)
n.399G>C
16g.2496365G=CA2202259761TBC1D24c.217G= (p.Val73=)
n.399G=
16g.2496365G>TCA394375029TBC1D24c.217G>T (p.Val73Leu)
n.399G>T
dbSNP gnomAD v4
16g.2496366T>ACA394375033TBC1D24c.218T>A (p.Val73Glu)
n.400T>A
16g.2496366T>CCA394375035TBC1D24c.218T>C (p.Val73Ala)
n.400T>C
16g.2496366T>GCA394375037TBC1D24c.218T>G (p.Val73Gly)
n.400T>G
16g.2496367G>ACA493366591TBC1D24c.219G>A (p.Val73=)
n.401G>A
16g.2496367G>CCA493366592TBC1D24c.219G>C (p.Val73=)
n.401G>C
16g.2496367G>TCA493366593TBC1D24c.219G>T (p.Val73=)
n.401G>T
gnomAD v4
16g.2496368T>ACA394375039TBC1D24c.220T>A (p.Tyr74Asn)
n.402T>A
16g.2496368T>CCA394375040TBC1D24c.220T>C (p.Tyr74His)
n.402T>C
16g.2496368T>GCA394375042TBC1D24c.220T>G (p.Tyr74Asp)
n.402T>G
16g.2496369A=CA2202259762TBC1D24c.221A= (p.Tyr74=)
n.403A=
16g.2496369A>CCA394375047TBC1D24c.221A>C (p.Tyr74Ser)
n.403A>C
16g.2496369A>GCA7843955TBC1D24c.221A>G (p.Tyr74Cys)
n.403A>G
dbSNP ExAC gnomAD v2
16g.2496369A>TCA394375045TBC1D24c.221A>T (p.Tyr74Phe)
n.403A>T
16g.2496370C>ACA394375050TBC1D24c.222C>A (p.Tyr74Ter)
n.404C>A
dbSNP
16g.2496370C>GCA394375052TBC1D24c.222C>G (p.Tyr74Ter)
n.404C>G
16g.2496370C>TCA493366594TBC1D24c.222C>T (p.Tyr74=)
n.404C>T
16g.2496371A=CA2202259763TBC1D24c.223A= (p.Ser75=)
n.405A=
16g.2496371A>CCA394375055TBC1D24c.223A>C (p.Ser75Arg)
n.405A>C
16g.2496371A>GCA394375057TBC1D24c.223A>G (p.Ser75Gly)
n.405A>G
dbSNP
16g.2496371A>TCA394375059TBC1D24c.223A>T (p.Ser75Cys)
n.405A>T
16g.2496372G>ACA394375066TBC1D24c.224G>A (p.Ser75Asn)
n.406G>A
16g.2496372G>CCA394375064TBC1D24c.224G>C (p.Ser75Thr)
n.406G>C
16g.2496372G>TCA394375062TBC1D24c.224G>T (p.Ser75Ile)
n.406G>T
16g.2496373C>ACA394375068TBC1D24c.225C>A (p.Ser75Arg)
n.407C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496373C=CA2202259764TBC1D24c.225C= (p.Ser75=)
n.407C=
16g.2496373C>GCA394375070TBC1D24c.225C>G (p.Ser75Arg)
n.407C>G
16g.2496373C>TCA7843956TBC1D24c.225C>T (p.Ser75=)
n.407C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496374G>ACA276809614TBC1D24c.226G>A (p.Asp76Asn)
n.408G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496374G>CCA394375073TBC1D24c.226G>C (p.Asp76His)
n.408G>C
16g.2496374G=CA2202259765TBC1D24c.226G= (p.Asp76=)
n.408G=
16g.2496374G>TCA394375075TBC1D24c.226G>T (p.Asp76Tyr)
n.408G>T
16g.2496375A>CCA394375078TBC1D24c.227A>C (p.Asp76Ala)
n.409A>C
16g.2496375A>GCA394375082TBC1D24c.227A>G (p.Asp76Gly)
n.409A>G
ClinVar
16g.2496375A>TCA394375079TBC1D24c.227A>T (p.Asp76Val)
n.409A>T
16g.2496376_2496387delCA2631209326TBC1D24c.228_239del (p.Asp76_Lys80delinsGlu)
n.410_421del
gnomAD v4
16g.2496376C>ACA394375083TBC1D24c.228C>A (p.Asp76Glu)
n.410C>A
16g.2496376C=CA2202259767TBC1D24c.228C= (p.Asp76=)
n.410C=
16g.2496376C>GCA394375084TBC1D24c.228C>G (p.Asp76Glu)
n.410C>G
16g.2496376C>TCA493366595TBC1D24c.228C>T (p.Asp76=)
n.410C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496376_2496388delinsCATCGTGGGCAAGCA2202259766TBC1D24c.228_240delinsCATCGTGGGCAAG (p.Asp76=)
n.410_422delinsCATCGTGGGCAAG
16g.2496377A=CA2202259768TBC1D24c.229A= (p.Ile77=)
n.411A=
16g.2496377A>CCA394375086TBC1D24c.229A>C (p.Ile77Leu)
n.411A>C
16g.2496377A>GCA394375088TBC1D24c.229A>G (p.Ile77Val)
n.411A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496377A>TCA394375090TBC1D24c.229A>T (p.Ile77Phe)
n.411A>T
ClinVar
16g.2496389_2496400dupCA973806073TBC1D24c.241_252dup (p.Lys84_His85insIleValGlyLys)
n.423_434dup
dbSNP gnomAD v3 gnomAD v4
16g.2496389_2496400delCA7843957TBC1D24c.241_252del (p.Ile81_Lys84del)
n.423_434del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496378T>ACA394375094TBC1D24c.230T>A (p.Ile77Asn)
n.412T>A
16g.2496378T>CCA394375096TBC1D24c.230T>C (p.Ile77Thr)
n.412T>C
gnomAD v4
16g.2496378T>GCA394375098TBC1D24c.230T>G (p.Ile77Ser)
n.412T>G
16g.2496379C>ACA493366596TBC1D24c.231C>A (p.Ile77=)
n.413C>A
COSMIC
16g.2496379C=CA2202259769TBC1D24c.231C= (p.Ile77=)
n.413C=
16g.2496379C>GCA394375100TBC1D24c.231C>G (p.Ile77Met)
n.413C>G
16g.2496379C>TCA7843958TBC1D24c.231C>T (p.Ile77=)
n.413C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496380G>ACA7843959TBC1D24c.232G>A (p.Val78Met)
n.414G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496380G>CCA394375108TBC1D24c.232G>C (p.Val78Leu)
n.414G>C
16g.2496380G=CA2202259770TBC1D24c.232G= (p.Val78=)
n.414G=
16g.2496380G>TCA394375106TBC1D24c.232G>T (p.Val78Leu)
n.414G>T
16g.2496381T>ACA394375111TBC1D24c.233T>A (p.Val78Glu)
n.415T>A
16g.2496381T>CCA394375114TBC1D24c.233T>C (p.Val78Ala)
n.415T>C
16g.2496381T>GCA394375112TBC1D24c.233T>G (p.Val78Gly)
n.415T>G
16g.2496382G>ACA493366602TBC1D24c.234G>A (p.Val78=)
n.416G>A
gnomAD v4
16g.2496382G>CCA493366603TBC1D24c.234G>C (p.Val78=)
n.416G>C
16g.2496382G>TCA493366604TBC1D24c.234G>T (p.Val78=)
n.416G>T
16g.2496383G>ACA394375116TBC1D24c.235G>A (p.Gly79Ser)
n.417G>A
16g.2496383G>CCA394375118TBC1D24c.235G>C (p.Gly79Arg)
n.417G>C
16g.2496383G>TCA394375120TBC1D24c.235G>T (p.Gly79Cys)
n.417G>T
16g.2496384G>ACA394375122TBC1D24c.236G>A (p.Gly79Asp)
n.418G>A
gnomAD v4
16g.2496384G>CCA394375124TBC1D24c.236G>C (p.Gly79Ala)
n.418G>C
dbSNP gnomAD v3 gnomAD v4
16g.2496384G=CA2202259771TBC1D24c.236G= (p.Gly79=)
n.418G=
16g.2496384G>TCA394375126TBC1D24c.236G>T (p.Gly79Val)
n.418G>T
16g.2496385C>ACA493366607TBC1D24c.237C>A (p.Gly79=)
n.419C>A
16g.2496385C>GCA493366608TBC1D24c.237C>G (p.Gly79=)
n.419C>G
16g.2496385C>TCA493366609TBC1D24c.237C>T (p.Gly79=)
n.419C>T
gnomAD v4
16g.2496386A>CCA394375128TBC1D24c.238A>C (p.Lys80Gln)
n.420A>C
16g.2496386A>GCA394375130TBC1D24c.238A>G (p.Lys80Glu)
n.420A>G
16g.2496386A>TCA394375132TBC1D24c.238A>T (p.Lys80Ter)
n.420A>T
16g.2496387A>CCA394375133TBC1D24c.239A>C (p.Lys80Thr)
n.421A>C
16g.2496387A>GCA394375134TBC1D24c.239A>G (p.Lys80Arg)
n.421A>G
16g.2496387A>TCA394375135TBC1D24c.239A>T (p.Lys80Met)
n.421A>T
16g.2496388G>ACA493366611TBC1D24c.240G>A (p.Lys80=)
n.422G>A
16g.2496388G>CCA394375137TBC1D24c.240G>C (p.Lys80Asn)
n.422G>C
COSMIC
16g.2496388G>TCA394375139TBC1D24c.240G>T (p.Lys80Asn)
n.422G>T
16g.2496389A>CCA394375143TBC1D24c.241A>C (p.Ile81Leu)
n.423A>C
16g.2496389A>GCA394375142TBC1D24c.241A>G (p.Ile81Val)
n.423A>G
16g.2496389A>TCA394375141TBC1D24c.241A>T (p.Ile81Phe)
n.423A>T
16g.2496390T>ACA394375145TBC1D24c.242T>A (p.Ile81Asn)
n.424T>A
dbSNP gnomAD v3 gnomAD v4
16g.2496390T>CCA394375146TBC1D24c.242T>C (p.Ile81Thr)
n.424T>C
ClinVar dbSNP
16g.2496390T>GCA394375147TBC1D24c.242T>G (p.Ile81Ser)
n.424T>G
16g.2496390T=CA2202259772TBC1D24c.242T= (p.Ile81=)
n.424T=
16g.2496391C>ACA493366613TBC1D24c.243C>A (p.Ile81=)
n.425C>A
16g.2496391C=CA2202259773TBC1D24c.243C= (p.Ile81=)
n.425C=
16g.2496391C>GCA394375149TBC1D24c.243C>G (p.Ile81Met)
n.425C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496391C>TCA16608137TBC1D24c.243C>T (p.Ile81=)
n.425C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496392G>ACA7843960TBC1D24c.244G>A (p.Val82Met)
n.426G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496392G>CCA7843961TBC1D24c.244G>C (p.Val82Leu)
n.426G>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496392G=CA2202259774TBC1D24c.244G= (p.Val82=)
n.426G=
16g.2496392G>TCA319011TBC1D24c.244G>T (p.Val82Leu)
n.426G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496393T>ACA394375154TBC1D24c.245T>A (p.Val82Glu)
n.427T>A
16g.2496393T>CCA394375156TBC1D24c.245T>C (p.Val82Ala)
n.427T>C
16g.2496393T>GCA394375158TBC1D24c.245T>G (p.Val82Gly)
n.427T>G
16g.2496393T=CA2202259775TBC1D24c.245T= (p.Val82=)
n.427T=
16g.2496394G>ACA493366615TBC1D24c.246G>A (p.Val82=)
n.428G>A
dbSNP gnomAD v3 gnomAD v4
16g.2496394G>CCA493366616TBC1D24c.246G>C (p.Val82=)
n.428G>C
16g.2496394G=CA2202259776TBC1D24c.246G= (p.Val82=)
n.428G=
16g.2496394G>TCA493366617TBC1D24c.246G>T (p.Val82=)
n.428G>T
gnomAD v4
16g.2496396dupCA276809615TBC1D24c.248dup (p.Lys84GlnfsTer?)
n.430dup
dbSNP
16g.2496395G>ACA394375160TBC1D24c.247G>A (p.Gly83Ser)
n.429G>A
16g.2496395G>CCA394375162TBC1D24c.247G>C (p.Gly83Arg)
n.429G>C
gnomAD v4
16g.2496395G>TCA394375164TBC1D24c.247G>T (p.Gly83Cys)
n.429G>T
ClinVar gnomAD v4
16g.2496396G>ACA394375170TBC1D24c.248G>A (p.Gly83Asp)
n.430G>A
COSMIC
16g.2496396G>CCA394375172TBC1D24c.248G>C (p.Gly83Ala)
n.430G>C
16g.2496396G=CA2202259777TBC1D24c.248G= (p.Gly83=)
n.430G=
16g.2496396G>TCA394375168TBC1D24c.248G>T (p.Gly83Val)
n.430G>T
dbSNP gnomAD v2 gnomAD v4
16g.2496397C>ACA493366620TBC1D24c.249C>A (p.Gly83=)
n.431C>A
16g.2496397C>GCA493366621TBC1D24c.249C>G (p.Gly83=)
n.431C>G
16g.2496397C>TCA493366622TBC1D24c.249C>T (p.Gly83=)
n.431C>T
16g.2496398A>CCA394375175TBC1D24c.250A>C (p.Lys84Gln)
n.432A>C
16g.2496398A>GCA394375176TBC1D24c.250A>G (p.Lys84Glu)
n.432A>G
COSMIC
16g.2496398A>TCA394375177TBC1D24c.250A>T (p.Lys84Ter)
n.432A>T
16g.2496399A>CCA394375178TBC1D24c.251A>C (p.Lys84Thr)
n.433A>C
16g.2496399A>GCA394375180TBC1D24c.251A>G (p.Lys84Arg)
n.433A>G
16g.2496399A>TCA394375182TBC1D24c.251A>T (p.Lys84Met)
n.433A>T
16g.2496400G>ACA493366624TBC1D24c.252G>A (p.Lys84=)
n.434G>A
16g.2496400G>CCA394375184TBC1D24c.252G>C (p.Lys84Asn)
n.434G>C
gnomAD v4
16g.2496400G>TCA394375186TBC1D24c.252G>T (p.Lys84Asn)
n.434G>T
16g.2496401C>ACA394375189TBC1D24c.253C>A (p.His85Asn)
n.435C>A
16g.2496401C=CA2202259778TBC1D24c.253C= (p.His85=)
n.435C=
16g.2496401C>GCA394375191TBC1D24c.253C>G (p.His85Asp)
n.435C>G
ClinVar dbSNP
16g.2496401C>TCA394375193TBC1D24c.253C>T (p.His85Tyr)
n.435C>T
ClinVar dbSNP
16g.2496402A>CCA394375195TBC1D24c.254A>C (p.His85Pro)
n.436A>C
16g.2496402A>GCA394375197TBC1D24c.254A>G (p.His85Arg)
n.436A>G
16g.2496402A>TCA394375199TBC1D24c.254A>T (p.His85Leu)
n.436A>T
16g.2496403C>ACA394375202TBC1D24c.255C>A (p.His85Gln)
n.437C>A
16g.2496403C=CA2202259779TBC1D24c.255C= (p.His85=)
n.437C=
16g.2496403C>GCA394375204TBC1D24c.255C>G (p.His85Gln)
n.437C>G
16g.2496403C>TCA493366626TBC1D24c.255C>T (p.His85=)
n.437C>T
dbSNP
16g.2496404A=CA2202259780TBC1D24c.256A= (p.Ser86=)
n.438A=
16g.2496404A>CCA394375206TBC1D24c.256A>C (p.Ser86Arg)
n.438A>C
16g.2496404A>GCA394375208TBC1D24c.256A>G (p.Ser86Gly)
n.438A>G
16g.2496404A>TCA394375210TBC1D24c.256A>T (p.Ser86Cys)
n.438A>T
dbSNP gnomAD v2 gnomAD v4
16g.2496405G>ACA394375212TBC1D24c.257G>A (p.Ser86Asn)
n.439G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496405G>CCA394375214TBC1D24c.257G>C (p.Ser86Thr)
n.439G>C
16g.2496405G=CA2202259781TBC1D24c.257G= (p.Ser86=)
n.439G=
16g.2496405G>TCA394375215TBC1D24c.257G>T (p.Ser86Ile)
n.439G>T
16g.2496406C>ACA394375216TBC1D24c.258C>A (p.Ser86Arg)
n.440C>A
16g.2496406C>GCA394375218TBC1D24c.258C>G (p.Ser86Arg)
n.440C>G
16g.2496406C>TCA493366629TBC1D24c.258C>T (p.Ser86=)
n.440C>T
gnomAD v4
16g.2496407A=CA2202259782TBC1D24c.259A= (p.Ser87=)
n.441A=
16g.2496407A>CCA394375220TBC1D24c.259A>C (p.Ser87Arg)
n.441A>C
16g.2496407A>GCA394375222TBC1D24c.259A>G (p.Ser87Gly)
n.441A>G
ClinVar dbSNP gnomAD v4
16g.2496407A>TCA394375224TBC1D24c.259A>T (p.Ser87Cys)
n.441A>T
16g.2496408G>ACA394375226TBC1D24c.260G>A (p.Ser87Asn)
n.442G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496408G>CCA394375229TBC1D24c.260G>C (p.Ser87Thr)
n.442G>C
16g.2496408G=CA2202259783TBC1D24c.260G= (p.Ser87=)
n.442G=
16g.2496408G>TCA394375227TBC1D24c.260G>T (p.Ser87Ile)
n.442G>T
16g.2496409C>ACA394375231TBC1D24c.261C>A (p.Ser87Arg)
n.443C>A
dbSNP gnomAD v2 gnomAD v4
16g.2496409C=CA2202259784TBC1D24c.261C= (p.Ser87=)
n.443C=
16g.2496409C>GCA394375233TBC1D24c.261C>G (p.Ser87Arg)
n.443C>G
dbSNP
16g.2496409C>TCA493366631TBC1D24c.261C>T (p.Ser87=)
n.443C>T
16g.2496410A>CCA394375236TBC1D24c.262A>C (p.Ser88Arg)
n.444A>C
16g.2496410A>GCA394375238TBC1D24c.262A>G (p.Ser88Gly)
n.444A>G
16g.2496410A>TCA394375240TBC1D24c.262A>T (p.Ser88Cys)
n.444A>T
16g.2496411G>ACA394375242TBC1D24c.263G>A (p.Ser88Asn)
n.445G>A
ClinVar dbSNP COSMIC
16g.2496411G>CCA394375244TBC1D24c.263G>C (p.Ser88Thr)
n.445G>C
16g.2496411G=CA2202259785TBC1D24c.263G= (p.Ser88=)
n.445G=
16g.2496411G>TCA394375246TBC1D24c.263G>T (p.Ser88Ile)
n.445G>T
gnomAD v4
16g.2496411_2496416delCA2590078327TBC1D24c.263_268del (p.Ser88_Leu90delinsMet)
n.445_450del
dbSNP gnomAD v3 gnomAD v4
16g.2496412C>ACA394375248TBC1D24c.264C>A (p.Ser88Arg)
n.446C>A
16g.2496412C>GCA394375249TBC1D24c.264C>G (p.Ser88Arg)
n.446C>G
16g.2496412C>TCA493366632TBC1D24c.264C>T (p.Ser88=)
n.446C>T
ClinVar dbSNP gnomAD v4
16g.2496413T>ACA394375251TBC1D24c.265T>A (p.Cys89Ser)
n.447T>A
16g.2496413T>CCA394375252TBC1D24c.265T>C (p.Cys89Arg)
n.447T>C
16g.2496413T>GCA394375253TBC1D24c.265T>G (p.Cys89Gly)
n.447T>G
16g.2496414G>ACA394375259TBC1D24c.266G>A (p.Cys89Tyr)
n.448G>A
gnomAD v4
16g.2496414G>CCA394375256TBC1D24c.266G>C (p.Cys89Ser)
n.448G>C
16g.2496414G>TCA394375255TBC1D24c.266G>T (p.Cys89Phe)
n.448G>T
16g.2496415C>ACA394375261TBC1D24c.267C>A (p.Cys89Ter)
n.449C>A
16g.2496415C>GCA394375263TBC1D24c.267C>G (p.Cys89Trp)
n.449C>G
16g.2496415C>TCA493366635TBC1D24c.267C>T (p.Cys89=)
n.449C>T
gnomAD v4
16g.2496416C>ACA394375266TBC1D24c.268C>A (p.Leu90Met)
n.450C>A
16g.2496416C>GCA394375267TBC1D24c.268C>G (p.Leu90Val)
n.450C>G
gnomAD v4
16g.2496416C>TCA493366636TBC1D24c.268C>T (p.Leu90=)
n.450C>T
16g.2496417T>ACA394375270TBC1D24c.269T>A (p.Leu90Gln)
n.451T>A
16g.2496417T>CCA394375272TBC1D24c.269T>C (p.Leu90Pro)
n.451T>C
16g.2496417T>GCA394375274TBC1D24c.269T>G (p.Leu90Arg)
n.451T>G
16g.2496418G>ACA493366638TBC1D24c.270G>A (p.Leu90=)
n.452G>A
gnomAD v4
16g.2496418G>CCA493366640TBC1D24c.270G>C (p.Leu90=)
n.452G>C
16g.2496418G>TCA493366641TBC1D24c.270G>T (p.Leu90=)
n.452G>T
16g.2496418_2496434delCA2580091016TBC1D24c.270_286del (p.Pro91GlyfsTer?)
n.452_468del
ClinVar
16g.2496419C>ACA394375276TBC1D24c.271C>A (p.Pro91Thr)
n.453C>A
16g.2496419C>GCA394375278TBC1D24c.271C>G (p.Pro91Ala)
n.453C>G
16g.2496419C>TCA394375280TBC1D24c.271C>T (p.Pro91Ser)
n.453C>T
gnomAD v4
16g.2496420C>ACA394375282TBC1D24c.272C>A (p.Pro91Gln)
n.454C>A
16g.2496420C=CA2202259786TBC1D24c.272C= (p.Pro91=)
n.454C=
16g.2496420C>GCA394375284TBC1D24c.272C>G (p.Pro91Arg)
n.454C>G
16g.2496420C>TCA7843962TBC1D24c.272C>T (p.Pro91Leu)
n.454C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496421G>ACA7843963TBC1D24c.273G>A (p.Pro91=)
n.455G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496421G>CCA493366645TBC1D24c.273G>C (p.Pro91=)
n.455G>C
16g.2496421G=CA2202259787TBC1D24c.273G= (p.Pro91=)
n.455G=
16g.2496421G>TCA493366644TBC1D24c.273G>T (p.Pro91=)
n.455G>T
16g.2496422C>ACA394375292TBC1D24c.274C>A (p.Leu92Met)
n.456C>A
16g.2496422C>GCA394375290TBC1D24c.274C>G (p.Leu92Val)
n.456C>G
16g.2496422C>TCA493366646TBC1D24c.274C>T (p.Leu92=)
n.456C>T
ClinVar COSMIC
16g.2496423T>ACA394375293TBC1D24c.275T>A (p.Leu92Gln)
n.457T>A
16g.2496423T>CCA394375295TBC1D24c.275T>C (p.Leu92Pro)
n.457T>C
16g.2496423T>GCA394375298TBC1D24c.275T>G (p.Leu92Arg)
n.457T>G
gnomAD v4
16g.2496424G>ACA493366650TBC1D24c.276G>A (p.Leu92=)
n.458G>A
16g.2496424G>CCA493366651TBC1D24c.276G>C (p.Leu92=)
n.458G>C
16g.2496424G>TCA493366652TBC1D24c.276G>T (p.Leu92=)
n.458G>T
16g.2496425C>ACA394375301TBC1D24c.277C>A (p.Pro93Thr)
n.459C>A
16g.2496425C=CA2202259788TBC1D24c.277C= (p.Pro93=)
n.459C=
16g.2496425C>GCA394375303TBC1D24c.277C>G (p.Pro93Ala)
n.459C>G
16g.2496425C>TCA394375304TBC1D24c.277C>T (p.Pro93Ser)
n.459C>T
dbSNP gnomAD v2
16g.2496427delCA2631209428TBC1D24c.279del (p.Glu94SerfsTer13)
n.461del
gnomAD v4
16g.2496426C>ACA394375306TBC1D24c.278C>A (p.Pro93His)
n.460C>A
16g.2496426C>GCA394375308TBC1D24c.278C>G (p.Pro93Arg)
n.460C>G
16g.2496426C>TCA394375309TBC1D24c.278C>T (p.Pro93Leu)
n.460C>T
gnomAD v4
16g.2496427C>ACA276809616TBC1D24c.279C>A (p.Pro93=)
n.461C>A
dbSNP gnomAD v2 gnomAD v4
16g.2496427C=CA2202259789TBC1D24c.279C= (p.Pro93=)
n.461C=
16g.2496427C>GCA493366655TBC1D24c.279C>G (p.Pro93=)
n.461C>G
dbSNP
16g.2496427C>TCA276809617TBC1D24c.279C>T (p.Pro93=)
n.461C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496428G>ACA394375311TBC1D24c.280G>A (p.Glu94Lys)
n.462G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496428G>CCA394375312TBC1D24c.280G>C (p.Glu94Gln)
n.462G>C
16g.2496428G=CA2202259790TBC1D24c.280G= (p.Glu94=)
n.462G=
16g.2496428G>TCA394375313TBC1D24c.280G>T (p.Glu94Ter)
n.462G>T
16g.2496429A>CCA394375320TBC1D24c.281A>C (p.Glu94Ala)
n.463A>C
16g.2496429A>GCA394375316TBC1D24c.281A>G (p.Glu94Gly)
n.463A>G
16g.2496429A>TCA394375318TBC1D24c.281A>T (p.Glu94Val)
n.463A>T
16g.2496430G>ACA276809618TBC1D24c.282G>A (p.Glu94=)
n.464G>A
dbSNP
16g.2496430G>CCA394375321TBC1D24c.282G>C (p.Glu94Asp)
n.464G>C
16g.2496430G=CA2202259791TBC1D24c.282G= (p.Glu94=)
n.464G=
16g.2496430G>TCA394375322TBC1D24c.282G>T (p.Glu94Asp)
n.464G>T
16g.2496431T>ACA394375325TBC1D24c.283T>A (p.Phe95Ile)
n.465T>A
16g.2496431T>CCA394375326TBC1D24c.283T>C (p.Phe95Leu)
n.465T>C
16g.2496431T>GCA7843964TBC1D24c.283T>G (p.Phe95Val)
n.465T>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496431T=CA2202259792TBC1D24c.283T= (p.Phe95=)
n.465T=
16g.2496432T>ACA394375331TBC1D24c.284T>A (p.Phe95Tyr)
n.466T>A
16g.2496432T>CCA394375333TBC1D24c.284T>C (p.Phe95Ser)
n.466T>C
ClinVar
16g.2496432T>GCA394375335TBC1D24c.284T>G (p.Phe95Cys)
n.466T>G

Number of alleles fetched