Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496732A>CCA394376670TBC1D24c.584A>C (p.His195Pro)
n.766A>C
16g.2496732A>GCA394376671TBC1D24c.584A>G (p.His195Arg)
n.766A>G
16g.2496732A>TCA394376672TBC1D24c.584A>T (p.His195Leu)
n.766A>T
16g.2496733C>ACA394376675TBC1D24c.585C>A (p.His195Gln)
n.767C>A
16g.2496733C>GCA394376677TBC1D24c.585C>G (p.His195Gln)
n.767C>G
ClinVar
16g.2496733C>TCA493367036TBC1D24c.585C>T (p.His195=)
n.767C>T
16g.2496734A>CCA394376679TBC1D24c.586A>C (p.Lys196Gln)
n.768A>C
16g.2496734A>GCA394376681TBC1D24c.586A>G (p.Lys196Glu)
n.768A>G
16g.2496734A>TCA394376683TBC1D24c.586A>T (p.Lys196Ter)
n.768A>T
16g.2496735A=CA2202259960TBC1D24c.587A= (p.Lys196=)
n.769A=
16g.2496735A>CCA394376685TBC1D24c.587A>C (p.Lys196Thr)
n.769A>C
16g.2496735A>GCA7844025TBC1D24c.587A>G (p.Lys196Arg)
n.769A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496735A>TCA394376688TBC1D24c.587A>T (p.Lys196Met)
n.769A>T
16g.2496736G>ACA493367039TBC1D24c.588G>A (p.Lys196=)
n.770G>A
gnomAD v4
16g.2496736G>CCA394376693TBC1D24c.588G>C (p.Lys196Asn)
n.770G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496736G=CA2202259961TBC1D24c.588G= (p.Lys196=)
n.770G=
16g.2496736G>TCA394376691TBC1D24c.588G>T (p.Lys196Asn)
n.770G>T
16g.2496737C>ACA394376696TBC1D24c.589C>A (p.Leu197Met)
n.771C>A
gnomAD v4
16g.2496737C>GCA394376698TBC1D24c.589C>G (p.Leu197Val)
n.771C>G
16g.2496737C>TCA493367040TBC1D24c.589C>T (p.Leu197=)
n.771C>T
16g.2496738T>ACA394376700TBC1D24c.590T>A (p.Leu197Gln)
n.772T>A
16g.2496738T>CCA394376703TBC1D24c.590T>C (p.Leu197Pro)
n.772T>C
16g.2496738T>GCA394376704TBC1D24c.590T>G (p.Leu197Arg)
n.772T>G
16g.2496739G>ACA493367044TBC1D24c.591G>A (p.Leu197=)
n.773G>A
16g.2496739G>CCA493367045TBC1D24c.591G>C (p.Leu197=)
n.773G>C
16g.2496739G>TCA493367046TBC1D24c.591G>T (p.Leu197=)
n.773G>T
16g.2496740A=CA2202259962TBC1D24c.592A= (p.Met198=)
n.774A=
16g.2496740A>CCA394376706TBC1D24c.592A>C (p.Met198Leu)
n.774A>C
16g.2496740A>GCA394376705TBC1D24c.592A>G (p.Met198Val)
n.774A>G
16g.2496740A>TCA7844026TBC1D24c.592A>T (p.Met198Leu)
n.774A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496741T>ACA394376707TBC1D24c.593T>A (p.Met198Lys)
n.775T>A
16g.2496741T>CCA394376708TBC1D24c.593T>C (p.Met198Thr)
n.775T>C
16g.2496741T>GCA394376709TBC1D24c.593T>G (p.Met198Arg)
n.775T>G
gnomAD v4
16g.2496742G>ACA394376710TBC1D24c.594G>A (p.Met198Ile)
n.776G>A
16g.2496742G>CCA394376711TBC1D24c.594G>C (p.Met198Ile)
n.776G>C
16g.2496742G>TCA394376712TBC1D24c.594G>T (p.Met198Ile)
n.776G>T
16g.2496743G>ACA394376713TBC1D24c.595G>A (p.Val199Met)
n.777G>A
16g.2496743G>CCA394376715TBC1D24c.595G>C (p.Val199Leu)
n.777G>C
16g.2496743G>TCA394376714TBC1D24c.595G>T (p.Val199Leu)
n.777G>T
16g.2496744T>ACA394376716TBC1D24c.596T>A (p.Val199Glu)
n.778T>A
16g.2496744T>CCA394376717TBC1D24c.596T>C (p.Val199Ala)
n.778T>C
ClinVar
16g.2496744T>GCA394376718TBC1D24c.596T>G (p.Val199Gly)
n.778T>G
16g.2496745G>ACA493367052TBC1D24c.597G>A (p.Val199=)
n.779G>A
16g.2496745G>CCA493367053TBC1D24c.597G>C (p.Val199=)
n.779G>C
16g.2496745G>TCA493367054TBC1D24c.597G>T (p.Val199=)
n.779G>T
16g.2496746G>ACA394376719TBC1D24c.598G>A (p.Ala200Thr)
n.780G>A
gnomAD v4
16g.2496746G>CCA394376720TBC1D24c.598G>C (p.Ala200Pro)
n.780G>C
16g.2496746G>TCA394376721TBC1D24c.598G>T (p.Ala200Ser)
n.780G>T
16g.2496747C>ACA394376722TBC1D24c.599C>A (p.Ala200Asp)
n.781C>A
16g.2496747C=CA2202259963TBC1D24c.599C= (p.Ala200=)
n.781C=
16g.2496747C>GCA394376723TBC1D24c.599C>G (p.Ala200Gly)
n.781C>G
16g.2496747C>TCA7844027TBC1D24c.599C>T (p.Ala200Val)
n.781C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496748C>ACA493367057TBC1D24c.600C>A (p.Ala200=)
n.782C>A
16g.2496748C=CA2202259964TBC1D24c.600C= (p.Ala200=)
n.782C=
16g.2496748C>GCA493367059TBC1D24c.600C>G (p.Ala200=)
n.782C>G
16g.2496748C>TCA7844028TBC1D24c.600C>T (p.Ala200=)
n.782C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496749delCA2631210323TBC1D24c.601del (p.Val201CysfsTer?)
n.783del
gnomAD v4
16g.2496749G>ACA7844029TBC1D24c.601G>A (p.Val201Met)
n.783G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496749G>CCA394376724TBC1D24c.601G>C (p.Val201Leu)
n.783G>C
16g.2496749G=CA2202259965TBC1D24c.601G= (p.Val201=)
n.783G=
16g.2496749G>TCA394376725TBC1D24c.601G>T (p.Val201Leu)
n.783G>T
16g.2496750T>ACA394376726TBC1D24c.602T>A (p.Val201Glu)
n.784T>A
16g.2496750T>CCA394376728TBC1D24c.602T>C (p.Val201Ala)
n.784T>C
16g.2496750T>GCA394376727TBC1D24c.602T>G (p.Val201Gly)
n.784T>G
16g.2496751G>ACA493367064TBC1D24c.603G>A (p.Val201=)
n.785G>A
16g.2496751G>CCA493367066TBC1D24c.603G>C (p.Val201=)
n.785G>C
16g.2496751G>TCA493367065TBC1D24c.603G>T (p.Val201=)
n.785G>T
16g.2496752T>ACA394376729TBC1D24c.604T>A (p.Ser202Thr)
n.786T>A
16g.2496752T>CCA394376730TBC1D24c.604T>C (p.Ser202Pro)
n.786T>C
16g.2496752T>GCA394376731TBC1D24c.604T>G (p.Ser202Ala)
n.786T>G
16g.2496753C>ACA394376732TBC1D24c.605C>A (p.Ser202Ter)
n.787C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496753C=CA2202259966TBC1D24c.605C= (p.Ser202=)
n.787C=
16g.2496753C>GCA394376733TBC1D24c.605C>G (p.Ser202Trp)
n.787C>G
16g.2496753C>TCA319029TBC1D24c.605C>T (p.Ser202Leu)
n.787C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496754G>ACA7844030TBC1D24c.606G>A (p.Ser202=)
n.788G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496754G>CCA493367069TBC1D24c.606G>C (p.Ser202=)
n.788G>C
16g.2496754G=CA2202259967TBC1D24c.606G= (p.Ser202=)
n.788G=
16g.2496754G>TCA493367071TBC1D24c.606G>T (p.Ser202=)
n.788G>T
16g.2496755G>ACA394376734TBC1D24c.607G>A (p.Glu203Lys)
n.789G>A
16g.2496755G>CCA394376735TBC1D24c.607G>C (p.Glu203Gln)
n.789G>C
16g.2496755G>TCA394376736TBC1D24c.607G>T (p.Glu203Ter)
n.789G>T
16g.2496756A>CCA394376739TBC1D24c.608A>C (p.Glu203Ala)
n.790A>C
16g.2496756A>GCA394376738TBC1D24c.608A>G (p.Glu203Gly)
n.790A>G
16g.2496756A>TCA394376737TBC1D24c.608A>T (p.Glu203Val)
n.790A>T
16g.2496757G>ACA493367072TBC1D24c.609G>A (p.Glu203=)
n.791G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496757G>CCA394376740TBC1D24c.609G>C (p.Glu203Asp)
n.791G>C
16g.2496757G=CA2202259968TBC1D24c.609G= (p.Glu203=)
n.791G=
16g.2496757G>TCA394376741TBC1D24c.609G>T (p.Glu203Asp)
n.791G>T
16g.2496758G>ACA394376742TBC1D24c.610G>A (p.Asp204Asn)
n.792G>A
16g.2496758G>CCA394376744TBC1D24c.610G>C (p.Asp204His)
n.792G>C
16g.2496758G>TCA394376743TBC1D24c.610G>T (p.Asp204Tyr)
n.792G>T
16g.2496759A>CCA394376745TBC1D24c.611A>C (p.Asp204Ala)
n.793A>C
16g.2496759A>GCA394376746TBC1D24c.611A>G (p.Asp204Gly)
n.793A>G
gnomAD v4
16g.2496759A>TCA394376747TBC1D24c.611A>T (p.Asp204Val)
n.793A>T
16g.2496760T>ACA394376748TBC1D24c.612T>A (p.Asp204Glu)
n.794T>A
16g.2496760T>CCA493367075TBC1D24c.612T>C (p.Asp204=)
n.794T>C
ClinVar gnomAD v4
16g.2496760T>GCA394376749TBC1D24c.612T>G (p.Asp204Glu)
n.794T>G
16g.2496761G>ACA394376750TBC1D24c.613G>A (p.Val205Ile)
n.795G>A
16g.2496761G>CCA394376751TBC1D24c.613G>C (p.Val205Leu)
n.795G>C
16g.2496761G>TCA394376752TBC1D24c.613G>T (p.Val205Phe)
n.795G>T
gnomAD v4
16g.2496762T>ACA394376753TBC1D24c.614T>A (p.Val205Asp)
n.796T>A
16g.2496762T>CCA394376754TBC1D24c.614T>C (p.Val205Ala)
n.796T>C
16g.2496762T>GCA394376755TBC1D24c.614T>G (p.Val205Gly)
n.796T>G
16g.2496763C>ACA493367078TBC1D24c.615C>A (p.Val205=)
n.797C>A
16g.2496763C>GCA493367081TBC1D24c.615C>G (p.Val205=)
n.797C>G
16g.2496763C>TCA493367079TBC1D24c.615C>T (p.Val205=)
n.797C>T
16g.2496764C>ACA394376757TBC1D24c.616C>A (p.Leu206Met)
n.798C>A
16g.2496764C=CA2202259969TBC1D24c.616C= (p.Leu206=)
n.798C=
16g.2496764C>GCA394376756TBC1D24c.616C>G (p.Leu206Val)
n.798C>G
16g.2496764C>TCA493366782TBC1D24c.616C>T (p.Leu206=)
n.798C>T
dbSNP gnomAD v2
16g.2496765T>ACA394376758TBC1D24c.617T>A (p.Leu206Gln)
n.799T>A
16g.2496765T>CCA394376759TBC1D24c.617T>C (p.Leu206Pro)
n.799T>C
16g.2496765T>GCA394376760TBC1D24c.617T>G (p.Leu206Arg)
n.799T>G
16g.2496766G>ACA493366786TBC1D24c.618G>A (p.Leu206=)
n.800G>A
16g.2496766G>CCA493366787TBC1D24c.618G>C (p.Leu206=)
n.800G>C
16g.2496766G>TCA493366788TBC1D24c.618G>T (p.Leu206=)
n.800G>T
16g.2496767C>ACA7844032TBC1D24c.619C>A (p.Gln207Lys)
n.801C>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496767C=CA2202259970TBC1D24c.619C= (p.Gln207=)
n.801C=
16g.2496767C>GCA394376761TBC1D24c.619C>G (p.Gln207Glu)
n.801C>G
gnomAD v4
16g.2496767C>TCA7844031TBC1D24c.619C>T (p.Gln207Ter)
n.801C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496768A=CA2202259972TBC1D24c.620A= (p.Gln207=)
n.802A=
16g.2496768A>CCA394376762TBC1D24c.620A>C (p.Gln207Pro)
n.802A>C
16g.2496768A>GCA394376763TBC1D24c.620A>G (p.Gln207Arg)
n.802A>G
gnomAD v4
16g.2496768A>TCA394376764TBC1D24c.620A>T (p.Gln207Leu)
n.802A>T
dbSNP
16g.2496768_2496769insCCTACA2202259971TBC1D24c.620_621insCCTA (p.Gln207HisfsTer25)
n.802_803insCCTA
dbSNP
16g.2496769G>ACA493366791TBC1D24c.621G>A (p.Gln207=)
n.803G>A
16g.2496769G>CCA10577006TBC1D24c.621G>C (p.Gln207His)
n.803G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496769G=CA2202259973TBC1D24c.621G= (p.Gln207=)
n.803G=
16g.2496769G>TCA394376765TBC1D24c.621G>T (p.Gln207His)
n.803G>T
16g.2496770G>ACA394376768TBC1D24c.622G>A (p.Val208Ile)
n.804G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496770G>CCA394376767TBC1D24c.622G>C (p.Val208Leu)
n.804G>C
16g.2496770G=CA2202259974TBC1D24c.622G= (p.Val208=)
n.804G=
16g.2496770G>TCA394376766TBC1D24c.622G>T (p.Val208Phe)
n.804G>T
16g.2496771T>ACA394376769TBC1D24c.623T>A (p.Val208Asp)
n.805T>A
16g.2496771T>CCA394376770TBC1D24c.623T>C (p.Val208Ala)
n.805T>C
16g.2496771T>GCA394376771TBC1D24c.623T>G (p.Val208Gly)
n.805T>G
16g.2496772C>ACA493366793TBC1D24c.624C>A (p.Val208=)
n.806C>A
16g.2496772C>GCA493366794TBC1D24c.624C>G (p.Val208=)
n.806C>G
16g.2496772C>TCA493366797TBC1D24c.624C>T (p.Val208=)
n.806C>T
ClinVar
16g.2496773T>ACA394376772TBC1D24c.625T>A (p.Tyr209Asn)
n.807T>A
16g.2496773T>CCA394376773TBC1D24c.625T>C (p.Tyr209His)
n.807T>C
16g.2496773T>GCA394376774TBC1D24c.625T>G (p.Tyr209Asp)
n.807T>G
16g.2496774A=CA2202259975TBC1D24c.626A= (p.Tyr209=)
n.808A=
16g.2496774A>CCA394376775TBC1D24c.626A>C (p.Tyr209Ser)
n.808A>C
dbSNP gnomAD v4
16g.2496774A>GCA394376776TBC1D24c.626A>G (p.Tyr209Cys)
n.808A>G
16g.2496774A>TCA394376777TBC1D24c.626A>T (p.Tyr209Phe)
n.808A>T
16g.2496775T>ACA394376778TBC1D24c.627T>A (p.Tyr209Ter)
n.809T>A
16g.2496775T>CCA7844033TBC1D24c.627T>C (p.Tyr209=)
n.809T>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496775T>GCA394376779TBC1D24c.627T>G (p.Tyr209Ter)
n.809T>G
16g.2496775T=CA2202259976TBC1D24c.627T= (p.Tyr209=)
n.809T=
16g.2496776G>ACA394376782TBC1D24c.628G>A (p.Ala210Thr)
n.810G>A
ClinVar dbSNP
16g.2496776G>CCA394376780TBC1D24c.628G>C (p.Ala210Pro)
n.810G>C
16g.2496776G>TCA394376781TBC1D24c.628G>T (p.Ala210Ser)
n.810G>T
16g.2496777C>ACA394376783TBC1D24c.629C>A (p.Ala210Glu)
n.811C>A
16g.2496777C=CA2202259977TBC1D24c.629C= (p.Ala210=)
n.811C=
16g.2496777C>GCA394376784TBC1D24c.629C>G (p.Ala210Gly)
n.811C>G
16g.2496777C>TCA7844034TBC1D24c.629C>T (p.Ala210Val)
n.811C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496778G>ACA318991TBC1D24c.630G>A (p.Ala210=)
n.812G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496778G>CCA493366803TBC1D24c.630G>C (p.Ala210=)
n.812G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496778G=CA2202259978TBC1D24c.630G= (p.Ala210=)
n.812G=
16g.2496778G>TCA493366805TBC1D24c.630G>T (p.Ala210=)
n.812G>T
16g.2496779G>ACA394376785TBC1D24c.631G>A (p.Asp211Asn)
n.813G>A
ClinVar dbSNP gnomAD v4
16g.2496779G>CCA394376786TBC1D24c.631G>C (p.Asp211His)
n.813G>C
16g.2496779G=CA2202259979TBC1D24c.631G= (p.Asp211=)
n.813G=
16g.2496779G>TCA394376787TBC1D24c.631G>T (p.Asp211Tyr)
n.813G>T
16g.2496780A=CA2202259980TBC1D24c.632A= (p.Asp211=)
n.814A=
16g.2496780A>CCA394376788TBC1D24c.632A>C (p.Asp211Ala)
n.814A>C
gnomAD v4
16g.2496780A>GCA394376789TBC1D24c.632A>G (p.Asp211Gly)
n.814A>G
ClinVar dbSNP
16g.2496780A>TCA394376790TBC1D24c.632A>T (p.Asp211Val)
n.814A>T
16g.2496781C>ACA394376791TBC1D24c.633C>A (p.Asp211Glu)
n.815C>A
16g.2496781C>GCA394376792TBC1D24c.633C>G (p.Asp211Glu)
n.815C>G
16g.2496781C>TCA493366807TBC1D24c.633C>T (p.Asp211=)
n.815C>T
gnomAD v4
16g.2496782T>ACA394376794TBC1D24c.634T>A (p.Trp212Arg)
n.816T>A
16g.2496782T>CCA394376795TBC1D24c.634T>C (p.Trp212Arg)
n.816T>C
gnomAD v4
16g.2496782T>GCA394376793TBC1D24c.634T>G (p.Trp212Gly)
n.816T>G
gnomAD v4
16g.2496783G>ACA394376798TBC1D24c.635G>A (p.Trp212Ter)
n.817G>A
16g.2496783G>CCA394376796TBC1D24c.635G>C (p.Trp212Ser)
n.817G>C
16g.2496783G>TCA394376797TBC1D24c.635G>T (p.Trp212Leu)
n.817G>T
16g.2496784G>ACA394376799TBC1D24c.636G>A (p.Trp212Ter)
n.818G>A
ClinVar dbSNP
16g.2496784G>CCA394376800TBC1D24c.636G>C (p.Trp212Cys)
n.818G>C
16g.2496784G>TCA394376801TBC1D24c.636G>T (p.Trp212Cys)
n.818G>T
gnomAD v4
16g.2496785C>ACA394376802TBC1D24c.637C>A (p.Gln213Lys)
n.819C>A
16g.2496785C>GCA394376803TBC1D24c.637C>G (p.Gln213Glu)
n.819C>G
16g.2496785C>TCA394376804TBC1D24c.637C>T (p.Gln213Ter)
n.819C>T
16g.2496790_2496941delCA2499223458TBC1D24c.642_793del (p.Trp215GlufsTer18)
n.824_975del
ClinVar dbSNP
16g.2496786A>CCA394376805TBC1D24c.638A>C (p.Gln213Pro)
n.820A>C
16g.2496786A>GCA394376806TBC1D24c.638A>G (p.Gln213Arg)
n.820A>G
gnomAD v4
16g.2496786A>TCA394376807TBC1D24c.638A>T (p.Gln213Leu)
n.820A>T
16g.2496787G>ACA493366813TBC1D24c.639G>A (p.Gln213=)
n.821G>A
dbSNP gnomAD v2
16g.2496787G>CCA394376808TBC1D24c.639G>C (p.Gln213His)
n.821G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496787G=CA2202259981TBC1D24c.639G= (p.Gln213=)
n.821G=
16g.2496787G>TCA394376809TBC1D24c.639G>T (p.Gln213His)
n.821G>T
16g.2496788C>ACA394376810TBC1D24c.640C>A (p.Arg214Ser)
n.822C>A
16g.2496788C=CA2202259982TBC1D24c.640C= (p.Arg214=)
n.822C=
16g.2496788C>GCA7844035TBC1D24c.640C>G (p.Arg214Gly)
n.822C>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496788C>TCA7844036TBC1D24c.640C>T (p.Arg214Cys)
n.822C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496789G>ACA289069TBC1D24c.641G>A (p.Arg214His)
n.823G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496789G>CCA394376811TBC1D24c.641G>C (p.Arg214Pro)
n.823G>C
16g.2496789G=CA2202259983TBC1D24c.641G= (p.Arg214=)
n.823G=
16g.2496789G>TCA394376812TBC1D24c.641G>T (p.Arg214Leu)
n.823G>T
dbSNP COSMIC
16g.2496789_2496790insTGAAGCAGGACATCA7844037TBC1D24c.641_642insTGAAGCAGGACAT (p.Trp215GlufsTer20)
n.823_824insTGAAGCAGGACAT
dbSNP ExAC
16g.2496789_2496790insTGAAGCAGGACATCCGCACGTTCGTCA620709058TBC1D24c.641_642insTGAAGCAGGACATCCGCACGTTCGT (p.Trp215GlufsTer24)
n.823_824insTGAAGCAGGACATCCGCACGTTCGT
gnomAD v2 gnomAD v4
16g.2496789_2496790insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACA2631210468TBC1D24c.641_642insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGA (p.Arg214_Trp215insGluAlaGlyHisProHisValArgGlnArgHisArgGluAsp)
n.823_824insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGA
gnomAD v4
16g.2496790C>ACA493366820TBC1D24c.642C>A (p.Arg214=)
n.824C>A
16g.2496790C=CA2202259984TBC1D24c.642C= (p.Arg214=)
n.824C=
16g.2496790C>GCA493366818TBC1D24c.642C>G (p.Arg214=)
n.824C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496790C>TCA276809629TBC1D24c.642C>T (p.Arg214=)
n.824C>T
dbSNP
16g.2496791T>ACA394376813TBC1D24c.643T>A (p.Trp215Arg)
n.825T>A
dbSNP gnomAD v2 gnomAD v4
16g.2496791T>CCA7844038TBC1D24c.643T>C (p.Trp215Arg)
n.825T>C
dbSNP ExAC
16g.2496791T>GCA394376814TBC1D24c.643T>G (p.Trp215Gly)
n.825T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496791T=CA2202259985TBC1D24c.643T= (p.Trp215=)
n.825T=
16g.2496792G>ACA394376815TBC1D24c.644G>A (p.Trp215Ter)
n.826G>A
16g.2496792G>CCA394376816TBC1D24c.644G>C (p.Trp215Ser)
n.826G>C
16g.2496792G>TCA394376817TBC1D24c.644G>T (p.Trp215Leu)
n.826G>T
16g.2496793_2496803delCA2575883965TBC1D24c.645_655del (p.Trp215Ter)
n.827_837del
16g.2496793G>ACA394376818TBC1D24c.645G>A (p.Trp215Ter)
n.827G>A
16g.2496793G>CCA394376819TBC1D24c.645G>C (p.Trp215Cys)
n.827G>C
16g.2496793G>TCA394376820TBC1D24c.645G>T (p.Trp215Cys)
n.827G>T
16g.2496794C>ACA394376821TBC1D24c.646C>A (p.Leu216Met)
n.828C>A
16g.2496794C=CA2202259986TBC1D24c.646C= (p.Leu216=)
n.828C=
16g.2496794C>GCA394376822TBC1D24c.646C>G (p.Leu216Val)
n.828C>G
16g.2496794C>TCA493366822TBC1D24c.646C>T (p.Leu216=)
n.828C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496795T>ACA394376823TBC1D24c.647T>A (p.Leu216Gln)
n.829T>A
16g.2496795T>CCA394376824TBC1D24c.647T>C (p.Leu216Pro)
n.829T>C
16g.2496795T>GCA394376825TBC1D24c.647T>G (p.Leu216Arg)
n.829T>G
16g.2496795T=CA2202259987TBC1D24c.647T= (p.Leu216=)
n.829T=
16g.2496796G>ACA7844039TBC1D24c.648G>A (p.Leu216=)
n.830G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496796G>CCA16607235TBC1D24c.648G>C (p.Leu216=)
n.830G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496796G=CA2202259988TBC1D24c.648G= (p.Leu216=)
n.830G=
16g.2496796G>TCA493366824TBC1D24c.648G>T (p.Leu216=)
n.830G>T
16g.2496796dupCA276809630TBC1D24c.648dup (p.Phe217ValfsTer14)
n.830dup
dbSNP
16g.2496797T>ACA394376828TBC1D24c.649T>A (p.Phe217Ile)
n.831T>A
16g.2496797T>CCA394376827TBC1D24c.649T>C (p.Phe217Leu)
n.831T>C
16g.2496797T>GCA394376826TBC1D24c.649T>G (p.Phe217Val)
n.831T>G
16g.2496798T>ACA394376829TBC1D24c.650T>A (p.Phe217Tyr)
n.832T>A
ClinVar dbSNP gnomAD v4
16g.2496798T>CCA394376830TBC1D24c.650T>C (p.Phe217Ser)
n.832T>C
16g.2496798T>GCA394376831TBC1D24c.650T>G (p.Phe217Cys)
n.832T>G
16g.2496798T=CA2202259989TBC1D24c.650T= (p.Phe217=)
n.832T=
16g.2496799T>ACA394376832TBC1D24c.651T>A (p.Phe217Leu)
n.833T>A
16g.2496799T>CCA7844040TBC1D24c.651T>C (p.Phe217=)
n.833T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496799T>GCA394376833TBC1D24c.651T>G (p.Phe217Leu)
n.833T>G
16g.2496799T=CA2202259990TBC1D24c.651T= (p.Phe217=)
n.833T=
16g.2496800G>ACA394376834TBC1D24c.652G>A (p.Gly218Arg)
n.834G>A
16g.2496800G>CCA394376836TBC1D24c.652G>C (p.Gly218Arg)
n.834G>C
16g.2496800G>TCA394376835TBC1D24c.652G>T (p.Gly218Trp)
n.834G>T
gnomAD v4
16g.2496801G>ACA394376837TBC1D24c.653G>A (p.Gly218Glu)
n.835G>A
16g.2496801G>CCA394376838TBC1D24c.653G>C (p.Gly218Ala)
n.835G>C
dbSNP
16g.2496801G=CA2202259991TBC1D24c.653G= (p.Gly218=)
n.835G=
16g.2496801G>TCA394376839TBC1D24c.653G>T (p.Gly218Val)
n.835G>T
16g.2496802G>ACA493366825TBC1D24c.654G>A (p.Gly218=)
n.836G>A
16g.2496802G>CCA493366826TBC1D24c.654G>C (p.Gly218=)
n.836G>C
gnomAD v4
16g.2496802G>TCA493366827TBC1D24c.654G>T (p.Gly218=)
n.836G>T
16g.2496803G>ACA394376840TBC1D24c.655G>A (p.Glu219Lys)
n.837G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496803G>CCA394376841TBC1D24c.655G>C (p.Glu219Gln)
n.837G>C
16g.2496803G=CA2202259992TBC1D24c.655G= (p.Glu219=)
n.837G=
16g.2496803G>TCA394376842TBC1D24c.655G>T (p.Glu219Ter)
n.837G>T
16g.2496804A>CCA394376843TBC1D24c.656A>C (p.Glu219Ala)
n.838A>C
16g.2496804A>GCA394376844TBC1D24c.656A>G (p.Glu219Gly)
n.838A>G
gnomAD v4
16g.2496804A>TCA394376845TBC1D24c.656A>T (p.Glu219Val)
n.838A>T
16g.2496805G>ACA293863TBC1D24c.657G>A (p.Glu219=)
n.839G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496805G>CCA394376846TBC1D24c.657G>C (p.Glu219Asp)
n.839G>C
16g.2496805G=CA2202259993TBC1D24c.657G= (p.Glu219=)
n.839G=
16g.2496805G>TCA394376847TBC1D24c.657G>T (p.Glu219Asp)
n.839G>T
16g.2496806C>ACA394376848TBC1D24c.658C>A (p.Leu220Met)
n.840C>A
16g.2496806C>GCA394376849TBC1D24c.658C>G (p.Leu220Val)
n.840C>G
16g.2496806C>TCA493366828TBC1D24c.658C>T (p.Leu220=)
n.840C>T
16g.2496807T>ACA394376850TBC1D24c.659T>A (p.Leu220Gln)
n.841T>A
16g.2496807T>CCA394376852TBC1D24c.659T>C (p.Leu220Pro)
n.841T>C
ClinVar dbSNP
16g.2496807T>GCA394376851TBC1D24c.659T>G (p.Leu220Arg)
n.841T>G
16g.2496807T=CA2202259994TBC1D24c.659T= (p.Leu220=)
n.841T=
16g.2496808G>ACA493366829TBC1D24c.660G>A (p.Leu220=)
n.842G>A
16g.2496808G>CCA493366830TBC1D24c.660G>C (p.Leu220=)
n.842G>C
16g.2496808G>TCA493366831TBC1D24c.660G>T (p.Leu220=)
n.842G>T
16g.2496809C>ACA394376853TBC1D24c.661C>A (p.Pro221Thr)
n.843C>A
16g.2496809C=CA2202259995TBC1D24c.661C= (p.Pro221=)
n.843C=
16g.2496809C>GCA394376854TBC1D24c.661C>G (p.Pro221Ala)
n.843C>G
16g.2496809C>TCA7844041TBC1D24c.661C>T (p.Pro221Ser)
n.843C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496810C>ACA394376855TBC1D24c.662C>A (p.Pro221His)
n.844C>A
16g.2496810C>GCA394376856TBC1D24c.662C>G (p.Pro221Arg)
n.844C>G
16g.2496810C>TCA394376857TBC1D24c.662C>T (p.Pro221Leu)
n.844C>T
16g.2496811C>ACA493366832TBC1D24c.663C>A (p.Pro221=)
n.845C>A
16g.2496811C=CA2202259996TBC1D24c.663C= (p.Pro221=)
n.845C=
16g.2496811C>GCA7844042TBC1D24c.663C>G (p.Pro221=)
n.845C>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496811C>TCA318993TBC1D24c.663C>T (p.Pro221=)
n.845C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496812C>ACA394376858TBC1D24c.664C>A (p.Leu222Ile)
n.846C>A
16g.2496812C>GCA394376859TBC1D24c.664C>G (p.Leu222Val)
n.846C>G
16g.2496812C>TCA394376860TBC1D24c.664C>T (p.Leu222Phe)
n.846C>T
16g.2496814_2496815delCA2631210530TBC1D24c.666_667del (p.Cys223LeufsTer7)
n.848_849del
gnomAD v4
16g.2496813T>ACA394376861TBC1D24c.665T>A (p.Leu222His)
n.847T>A
16g.2496813T>CCA276809631TBC1D24c.665T>C (p.Leu222Pro)
n.847T>C
dbSNP gnomAD v4
16g.2496813T>GCA394376862TBC1D24c.665T>G (p.Leu222Arg)
n.847T>G
16g.2496813T=CA2202259997TBC1D24c.665T= (p.Leu222=)
n.847T=
16g.2496814C>ACA493366833TBC1D24c.666C>A (p.Leu222=)
n.848C>A
16g.2496814C=CA2202259998TBC1D24c.666C= (p.Leu222=)
n.848C=
16g.2496814C>GCA493366834TBC1D24c.666C>G (p.Leu222=)
n.848C>G
16g.2496814C>TCA493366835TBC1D24c.666C>T (p.Leu222=)
n.848C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496815T>ACA394376865TBC1D24c.667T>A (p.Cys223Ser)
n.849T>A
16g.2496815T>CCA394376863TBC1D24c.667T>C (p.Cys223Arg)
n.849T>C
16g.2496815T>GCA394376864TBC1D24c.667T>G (p.Cys223Gly)
n.849T>G
gnomAD v4
16g.2496816G>ACA394376866TBC1D24c.668G>A (p.Cys223Tyr)
n.850G>A
gnomAD v4
16g.2496816G>CCA394376867TBC1D24c.668G>C (p.Cys223Ser)
n.850G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496816G=CA2202259999TBC1D24c.668G= (p.Cys223=)
n.850G=
16g.2496816G>TCA394376868TBC1D24c.668G>T (p.Cys223Phe)
n.850G>T
16g.2496816_2496817delinsAACA2580091039TBC1D24c.668_669delinsAA (p.Cys223Ter)
n.850_851delinsAA
ClinVar
16g.2496817C>ACA394376869TBC1D24c.669C>A (p.Cys223Ter)
n.851C>A
16g.2496817C=CA2202260000TBC1D24c.669C= (p.Cys223=)
n.851C=
16g.2496817C>GCA394376870TBC1D24c.669C>G (p.Cys223Trp)
n.851C>G
16g.2496817C>TCA493366836TBC1D24c.669C>T (p.Cys223=)
n.851C>T
dbSNP
16g.2496818T>ACA394376871TBC1D24c.670T>A (p.Tyr224Asn)
n.852T>A
16g.2496818T>CCA7844043TBC1D24c.670T>C (p.Tyr224His)
n.852T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496818T>GCA394376872TBC1D24c.670T>G (p.Tyr224Asp)
n.852T>G
16g.2496818T=CA2202260001TBC1D24c.670T= (p.Tyr224=)
n.852T=
16g.2496819A>CCA394376873TBC1D24c.671A>C (p.Tyr224Ser)
n.853A>C
16g.2496819A>GCA394376874TBC1D24c.671A>G (p.Tyr224Cys)
n.853A>G
16g.2496819A>TCA394376875TBC1D24c.671A>T (p.Tyr224Phe)
n.853A>T
16g.2496820C>ACA394376877TBC1D24c.672C>A (p.Tyr224Ter)
n.854C>A
16g.2496820C>GCA394376876TBC1D24c.672C>G (p.Tyr224Ter)
n.854C>G
16g.2496820C>TCA493366838TBC1D24c.672C>T (p.Tyr224=)
n.854C>T
16g.2496821T>ACA394376878TBC1D24c.673T>A (p.Phe225Ile)
n.855T>A
16g.2496821T>CCA394376879TBC1D24c.673T>C (p.Phe225Leu)
n.855T>C
16g.2496821T>GCA394376880TBC1D24c.673T>G (p.Phe225Val)
n.855T>G
16g.2496822T>ACA394376881TBC1D24c.674T>A (p.Phe225Tyr)
n.856T>A
16g.2496822T>CCA394376882TBC1D24c.674T>C (p.Phe225Ser)
n.856T>C
16g.2496822T>GCA394376883TBC1D24c.674T>G (p.Phe225Cys)
n.856T>G
16g.2496823C>ACA394376884TBC1D24c.675C>A (p.Phe225Leu)
n.857C>A
dbSNP gnomAD v2 gnomAD v4
16g.2496823C=CA2202260002TBC1D24c.675C= (p.Phe225=)
n.857C=
16g.2496823C>GCA394376885TBC1D24c.675C>G (p.Phe225Leu)
n.857C>G
16g.2496823C>TCA276809632TBC1D24c.675C>T (p.Phe225=)
n.857C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496824G>ACA319032TBC1D24c.676G>A (p.Ala226Thr)
n.858G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496824G>CCA394376886TBC1D24c.676G>C (p.Ala226Pro)
n.858G>C
16g.2496824G=CA2202260003TBC1D24c.676G= (p.Ala226=)
n.858G=
16g.2496824G>TCA394376887TBC1D24c.676G>T (p.Ala226Ser)
n.858G>T
16g.2496825C>ACA394376888TBC1D24c.677C>A (p.Ala226Asp)
n.859C>A
16g.2496825C>GCA394376889TBC1D24c.677C>G (p.Ala226Gly)
n.859C>G
16g.2496825C>TCA394376890TBC1D24c.677C>T (p.Ala226Val)
n.859C>T
gnomAD v4
16g.2496826C>ACA493366839TBC1D24c.678C>A (p.Ala226=)
n.860C>A
16g.2496826C>GCA493366841TBC1D24c.678C>G (p.Ala226=)
n.860C>G
16g.2496826C>TCA493366840TBC1D24c.678C>T (p.Ala226=)
n.860C>T
16g.2496827C>ACA493366842TBC1D24c.679C>A (p.Arg227=)
n.861C>A
16g.2496827C=CA2202260004TBC1D24c.679C= (p.Arg227=)
n.861C=
16g.2496827C>GCA394376891TBC1D24c.679C>G (p.Arg227Gly)
n.861C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496827C>TCA7844044TBC1D24c.679C>T (p.Arg227Trp)
n.861C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496828G>ACA7844045TBC1D24c.680G>A (p.Arg227Gln)
n.862G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496828G>CCA394376892TBC1D24c.680G>C (p.Arg227Pro)
n.862G>C
16g.2496828G=CA2202260005TBC1D24c.680G= (p.Arg227=)
n.862G=
16g.2496828G>TCA319035TBC1D24c.680G>T (p.Arg227Leu)
n.862G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496829G>ACA493366843TBC1D24c.681G>A (p.Arg227=)
n.863G>A
16g.2496829G>CCA493366844TBC1D24c.681G>C (p.Arg227=)
n.863G>C
16g.2496829G>TCA493366845TBC1D24c.681G>T (p.Arg227=)
n.863G>T
16g.2496830G>ACA394376893TBC1D24c.682G>A (p.Val228Ile)
n.864G>A
16g.2496830G>CCA394376894TBC1D24c.682G>C (p.Val228Leu)
n.864G>C
16g.2496830G>TCA394376895TBC1D24c.682G>T (p.Val228Phe)
n.864G>T
16g.2496831T>ACA7844046TBC1D24c.683T>A (p.Val228Asp)
n.865T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496831T>CCA394376896TBC1D24c.683T>C (p.Val228Ala)
n.865T>C
16g.2496831T>GCA394376897TBC1D24c.683T>G (p.Val228Gly)
n.865T>G
dbSNP
16g.2496831T=CA2202260006TBC1D24c.683T= (p.Val228=)
n.865T=
16g.2496832C>ACA493366846TBC1D24c.684C>A (p.Val228=)
n.866C>A
gnomAD v4
16g.2496832C=CA2202260007TBC1D24c.684C= (p.Val228=)
n.866C=
16g.2496832C>GCA493366847TBC1D24c.684C>G (p.Val228=)
n.866C>G
gnomAD v4
16g.2496832C>TCA493366848TBC1D24c.684C>T (p.Val228=)
n.866C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched