Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.8648141G>ACA295245MFAP5c.472C>T (p.Arg158Ter)
c.442C>T (p.Arg148Ter)
c.397C>T (p.Arg133Ter)
c.280C>T (p.Arg94Ter)
c.441C>T
c.*124C>T (n.*124C>T)
n.431C>T
c.406C>T (p.Arg136Ter)
c.190C>T (p.Arg64Ter)
n.805C>T
n.775C>T
n.743C>T
n.713C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.8648141G>CCA384038679MFAP5c.472C>G (p.Arg158Gly)
c.442C>G (p.Arg148Gly)
c.397C>G (p.Arg133Gly)
c.280C>G (p.Arg94Gly)
c.441C>G
c.*124C>G (n.*124C>G)
n.431C>G
c.406C>G (p.Arg136Gly)
c.190C>G (p.Arg64Gly)
n.805C>G
n.775C>G
n.743C>G
n.713C>G
12g.8648141G=CA2015131033MFAP5c.472C= (p.Arg158=)
c.442C= (p.Arg148=)
c.397C= (p.Arg133=)
c.280C= (p.Arg94=)
c.441C=
c.*124C= (n.*124C=)
n.431C=
c.406C= (p.Arg136=)
c.190C= (p.Arg64=)
n.805C=
n.775C=
n.743C=
n.713C=
12g.8648141G>TCA478464196MFAP5c.472C>A (p.Arg158=)
c.442C>A (p.Arg148=)
c.397C>A (p.Arg133=)
c.280C>A (p.Arg94=)
c.441C>A
c.*124C>A (n.*124C>A)
n.431C>A
c.406C>A (p.Arg136=)
c.190C>A (p.Arg64=)
n.805C>A
n.775C>A
n.743C>A
n.713C>A
12g.8648142G>ACA478464201MFAP5c.471C>T (p.Phe157=)
c.441C>T (p.Phe147=)
c.396C>T (p.Phe132=)
c.279C>T (p.Phe93=)
c.440C>T
c.*123C>T (n.*123C>T)
n.430C>T
c.405C>T (p.Phe135=)
c.189C>T (p.Phe63=)
n.804C>T
n.774C>T
n.742C>T
n.712C>T
12g.8648142G>CCA384038680MFAP5c.471C>G (p.Phe157Leu)
c.441C>G (p.Phe147Leu)
c.396C>G (p.Phe132Leu)
c.279C>G (p.Phe93Leu)
c.440C>G
c.*123C>G (n.*123C>G)
n.430C>G
c.405C>G (p.Phe135Leu)
c.189C>G (p.Phe63Leu)
n.804C>G
n.774C>G
n.742C>G
n.712C>G
gnomAD v4
12g.8648142G>TCA384038681MFAP5c.471C>A (p.Phe157Leu)
c.441C>A (p.Phe147Leu)
c.396C>A (p.Phe132Leu)
c.279C>A (p.Phe93Leu)
c.440C>A
c.*123C>A (n.*123C>A)
n.430C>A
c.405C>A (p.Phe135Leu)
c.189C>A (p.Phe63Leu)
n.804C>A
n.774C>A
n.742C>A
n.712C>A
gnomAD v4
12g.8648143A>CCA384038682MFAP5c.470T>G (p.Phe157Cys)
c.440T>G (p.Phe147Cys)
c.395T>G (p.Phe132Cys)
c.278T>G (p.Phe93Cys)
c.439T>G
c.*122T>G (n.*122T>G)
n.429T>G
c.404T>G (p.Phe135Cys)
c.188T>G (p.Phe63Cys)
n.803T>G
n.773T>G
n.741T>G
n.711T>G
12g.8648143A>GCA384038683MFAP5c.470T>C (p.Phe157Ser)
c.440T>C (p.Phe147Ser)
c.395T>C (p.Phe132Ser)
c.278T>C (p.Phe93Ser)
c.439T>C
c.*122T>C (n.*122T>C)
n.429T>C
c.404T>C (p.Phe135Ser)
c.188T>C (p.Phe63Ser)
n.803T>C
n.773T>C
n.741T>C
n.711T>C
12g.8648143A>TCA384038684MFAP5c.470T>A (p.Phe157Tyr)
c.440T>A (p.Phe147Tyr)
c.395T>A (p.Phe132Tyr)
c.278T>A (p.Phe93Tyr)
c.439T>A
c.*122T>A (n.*122T>A)
n.429T>A
c.404T>A (p.Phe135Tyr)
c.188T>A (p.Phe63Tyr)
n.803T>A
n.773T>A
n.741T>A
n.711T>A
12g.8648144A>CCA384038685MFAP5c.469T>G (p.Phe157Val)
c.439T>G (p.Phe147Val)
c.394T>G (p.Phe132Val)
c.277T>G (p.Phe93Val)
c.438T>G
c.*121T>G (n.*121T>G)
n.428T>G
c.403T>G (p.Phe135Val)
c.187T>G (p.Phe63Val)
n.802T>G
n.772T>G
n.740T>G
n.710T>G
12g.8648144A>GCA384038686MFAP5c.469T>C (p.Phe157Leu)
c.439T>C (p.Phe147Leu)
c.394T>C (p.Phe132Leu)
c.277T>C (p.Phe93Leu)
c.438T>C
c.*121T>C (n.*121T>C)
n.428T>C
c.403T>C (p.Phe135Leu)
c.187T>C (p.Phe63Leu)
n.802T>C
n.772T>C
n.740T>C
n.710T>C
12g.8648144A>TCA384038687MFAP5c.469T>A (p.Phe157Ile)
c.439T>A (p.Phe147Ile)
c.394T>A (p.Phe132Ile)
c.277T>A (p.Phe93Ile)
c.438T>A
c.*121T>A (n.*121T>A)
n.428T>A
c.403T>A (p.Phe135Ile)
c.187T>A (p.Phe63Ile)
n.802T>A
n.772T>A
n.740T>A
n.710T>A
12g.8648145G>ACA478464218MFAP5c.468C>T (p.Tyr156=)
c.438C>T (p.Tyr146=)
c.393C>T (p.Tyr131=)
c.276C>T (p.Tyr92=)
c.437C>T
c.*120C>T (n.*120C>T)
n.427C>T
c.402C>T (p.Tyr134=)
c.186C>T (p.Tyr62=)
n.801C>T
n.771C>T
n.739C>T
n.709C>T
gnomAD v4
12g.8648145G>CCA384038688MFAP5c.468C>G (p.Tyr156Ter)
c.438C>G (p.Tyr146Ter)
c.393C>G (p.Tyr131Ter)
c.276C>G (p.Tyr92Ter)
c.437C>G
c.*120C>G (n.*120C>G)
n.427C>G
c.402C>G (p.Tyr134Ter)
c.186C>G (p.Tyr62Ter)
n.801C>G
n.771C>G
n.739C>G
n.709C>G
12g.8648145G>TCA384038689MFAP5c.468C>A (p.Tyr156Ter)
c.438C>A (p.Tyr146Ter)
c.393C>A (p.Tyr131Ter)
c.276C>A (p.Tyr92Ter)
c.437C>A
c.*120C>A (n.*120C>A)
n.427C>A
c.402C>A (p.Tyr134Ter)
c.186C>A (p.Tyr62Ter)
n.801C>A
n.771C>A
n.739C>A
n.709C>A
12g.8648146T>ACA384038690MFAP5c.467A>T (p.Tyr156Phe)
c.437A>T (p.Tyr146Phe)
c.392A>T (p.Tyr131Phe)
c.275A>T (p.Tyr92Phe)
c.436A>T
c.*119A>T (n.*119A>T)
n.426A>T
c.401A>T (p.Tyr134Phe)
c.185A>T (p.Tyr62Phe)
n.800A>T
n.770A>T
n.738A>T
n.708A>T
12g.8648146T>CCA384038691MFAP5c.467A>G (p.Tyr156Cys)
c.437A>G (p.Tyr146Cys)
c.392A>G (p.Tyr131Cys)
c.275A>G (p.Tyr92Cys)
c.436A>G
c.*119A>G (n.*119A>G)
n.426A>G
c.401A>G (p.Tyr134Cys)
c.185A>G (p.Tyr62Cys)
n.800A>G
n.770A>G
n.738A>G
n.708A>G
12g.8648146T>GCA384038692MFAP5c.467A>C (p.Tyr156Ser)
c.437A>C (p.Tyr146Ser)
c.392A>C (p.Tyr131Ser)
c.275A>C (p.Tyr92Ser)
c.436A>C
c.*119A>C (n.*119A>C)
n.426A>C
c.401A>C (p.Tyr134Ser)
c.185A>C (p.Tyr62Ser)
n.800A>C
n.770A>C
n.738A>C
n.708A>C
12g.8648147A>CCA384038695MFAP5c.466T>G (p.Tyr156Asp)
c.436T>G (p.Tyr146Asp)
c.391T>G (p.Tyr131Asp)
c.274T>G (p.Tyr92Asp)
c.435T>G
c.*118T>G (n.*118T>G)
n.425T>G
c.400T>G (p.Tyr134Asp)
c.184T>G (p.Tyr62Asp)
n.799T>G
n.769T>G
n.737T>G
n.707T>G
12g.8648147A>GCA384038693MFAP5c.466T>C (p.Tyr156His)
c.436T>C (p.Tyr146His)
c.391T>C (p.Tyr131His)
c.274T>C (p.Tyr92His)
c.435T>C
c.*118T>C (n.*118T>C)
n.425T>C
c.400T>C (p.Tyr134His)
c.184T>C (p.Tyr62His)
n.799T>C
n.769T>C
n.737T>C
n.707T>C
12g.8648147A>TCA384038694MFAP5c.466T>A (p.Tyr156Asn)
c.436T>A (p.Tyr146Asn)
c.391T>A (p.Tyr131Asn)
c.274T>A (p.Tyr92Asn)
c.435T>A
c.*118T>A (n.*118T>A)
n.425T>A
c.400T>A (p.Tyr134Asn)
c.184T>A (p.Tyr62Asn)
n.799T>A
n.769T>A
n.737T>A
n.707T>A
gnomAD v4
12g.8648148A>CCA384038696MFAP5c.465T>G (p.Asn155Lys)
c.435T>G (p.Asn145Lys)
c.390T>G (p.Asn130Lys)
c.273T>G (p.Asn91Lys)
c.434T>G
c.*117T>G (n.*117T>G)
n.424T>G
c.399T>G (p.Asn133Lys)
c.183T>G (p.Asn61Lys)
n.798T>G
n.768T>G
n.736T>G
n.706T>G
12g.8648148A>GCA478464237MFAP5c.465T>C (p.Asn155=)
c.435T>C (p.Asn145=)
c.390T>C (p.Asn130=)
c.273T>C (p.Asn91=)
c.434T>C
c.*117T>C (n.*117T>C)
n.424T>C
c.399T>C (p.Asn133=)
c.183T>C (p.Asn61=)
n.798T>C
n.768T>C
n.736T>C
n.706T>C
12g.8648148A>TCA384038697MFAP5c.465T>A (p.Asn155Lys)
c.435T>A (p.Asn145Lys)
c.390T>A (p.Asn130Lys)
c.273T>A (p.Asn91Lys)
c.434T>A
c.*117T>A (n.*117T>A)
n.424T>A
c.399T>A (p.Asn133Lys)
c.183T>A (p.Asn61Lys)
n.798T>A
n.768T>A
n.736T>A
n.706T>A
12g.8648149T>ACA384038698MFAP5c.464A>T (p.Asn155Ile)
c.434A>T (p.Asn145Ile)
c.389A>T (p.Asn130Ile)
c.272A>T (p.Asn91Ile)
c.433A>T
c.*116A>T (n.*116A>T)
n.423A>T
c.398A>T (p.Asn133Ile)
c.182A>T (p.Asn61Ile)
n.797A>T
n.767A>T
n.735A>T
n.705A>T
12g.8648149T>CCA232305692MFAP5c.464A>G (p.Asn155Ser)
c.434A>G (p.Asn145Ser)
c.389A>G (p.Asn130Ser)
c.272A>G (p.Asn91Ser)
c.433A>G
c.*116A>G (n.*116A>G)
n.423A>G
c.398A>G (p.Asn133Ser)
c.182A>G (p.Asn61Ser)
n.797A>G
n.767A>G
n.735A>G
n.705A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.8648149T>GCA384038699MFAP5c.464A>C (p.Asn155Thr)
c.434A>C (p.Asn145Thr)
c.389A>C (p.Asn130Thr)
c.272A>C (p.Asn91Thr)
c.433A>C
c.*116A>C (n.*116A>C)
n.423A>C
c.398A>C (p.Asn133Thr)
c.182A>C (p.Asn61Thr)
n.797A>C
n.767A>C
n.735A>C
n.705A>C
12g.8648149T=CA2015131034MFAP5c.464A= (p.Asn155=)
c.434A= (p.Asn145=)
c.389A= (p.Asn130=)
c.272A= (p.Asn91=)
c.433A=
c.*116A= (n.*116A=)
n.423A=
c.398A= (p.Asn133=)
c.182A= (p.Asn61=)
n.797A=
n.767A=
n.735A=
n.705A=
12g.8648150T>ACA384038700MFAP5c.463A>T (p.Asn155Tyr)
c.433A>T (p.Asn145Tyr)
c.388A>T (p.Asn130Tyr)
c.271A>T (p.Asn91Tyr)
c.432A>T
c.*115A>T (n.*115A>T)
n.422A>T
c.397A>T (p.Asn133Tyr)
c.181A>T (p.Asn61Tyr)
n.796A>T
n.766A>T
n.734A>T
n.704A>T
12g.8648150T>CCA384038701MFAP5c.463A>G (p.Asn155Asp)
c.433A>G (p.Asn145Asp)
c.388A>G (p.Asn130Asp)
c.271A>G (p.Asn91Asp)
c.432A>G
c.*115A>G (n.*115A>G)
n.422A>G
c.397A>G (p.Asn133Asp)
c.181A>G (p.Asn61Asp)
n.796A>G
n.766A>G
n.734A>G
n.704A>G
ClinVar
12g.8648150T>GCA384038702MFAP5c.463A>C (p.Asn155His)
c.433A>C (p.Asn145His)
c.388A>C (p.Asn130His)
c.271A>C (p.Asn91His)
c.432A>C
c.*115A>C (n.*115A>C)
n.422A>C
c.397A>C (p.Asn133His)
c.181A>C (p.Asn61His)
n.796A>C
n.766A>C
n.734A>C
n.704A>C
12g.8648151G>ACA478464257MFAP5c.462C>T (p.Ser154=)
c.432C>T (p.Ser144=)
c.387C>T (p.Ser129=)
c.270C>T (p.Ser90=)
c.431C>T
c.*114C>T (n.*114C>T)
n.421C>T
c.396C>T (p.Ser132=)
c.180C>T (p.Ser60=)
n.795C>T
n.765C>T
n.733C>T
n.703C>T
gnomAD v4
12g.8648151G>CCA478464259MFAP5c.462C>G (p.Ser154=)
c.432C>G (p.Ser144=)
c.387C>G (p.Ser129=)
c.270C>G (p.Ser90=)
c.431C>G
c.*114C>G (n.*114C>G)
n.421C>G
c.396C>G (p.Ser132=)
c.180C>G (p.Ser60=)
n.795C>G
n.765C>G
n.733C>G
n.703C>G
12g.8648151G>TCA478464262MFAP5c.462C>A (p.Ser154=)
c.432C>A (p.Ser144=)
c.387C>A (p.Ser129=)
c.270C>A (p.Ser90=)
c.431C>A
c.*114C>A (n.*114C>A)
n.421C>A
c.396C>A (p.Ser132=)
c.180C>A (p.Ser60=)
n.795C>A
n.765C>A
n.733C>A
n.703C>A
12g.8648152G>ACA384038703MFAP5c.461C>T (p.Ser154Phe)
c.431C>T (p.Ser144Phe)
c.386C>T (p.Ser129Phe)
c.269C>T (p.Ser90Phe)
c.430C>T
c.*113C>T (n.*113C>T)
n.420C>T
c.395C>T (p.Ser132Phe)
c.179C>T (p.Ser60Phe)
n.794C>T
n.764C>T
n.732C>T
n.702C>T
COSMIC
12g.8648152G>CCA384038704MFAP5c.461C>G (p.Ser154Cys)
c.431C>G (p.Ser144Cys)
c.386C>G (p.Ser129Cys)
c.269C>G (p.Ser90Cys)
c.430C>G
c.*113C>G (n.*113C>G)
n.420C>G
c.395C>G (p.Ser132Cys)
c.179C>G (p.Ser60Cys)
n.794C>G
n.764C>G
n.732C>G
n.702C>G
dbSNP gnomAD v2 gnomAD v4
12g.8648152G=CA2015131035MFAP5c.461C= (p.Ser154=)
c.431C= (p.Ser144=)
c.386C= (p.Ser129=)
c.269C= (p.Ser90=)
c.430C=
c.*113C= (n.*113C=)
n.420C=
c.395C= (p.Ser132=)
c.179C= (p.Ser60=)
n.794C=
n.764C=
n.732C=
n.702C=
12g.8648152G>TCA384038705MFAP5c.461C>A (p.Ser154Tyr)
c.431C>A (p.Ser144Tyr)
c.386C>A (p.Ser129Tyr)
c.269C>A (p.Ser90Tyr)
c.430C>A
c.*113C>A (n.*113C>A)
n.420C>A
c.395C>A (p.Ser132Tyr)
c.179C>A (p.Ser60Tyr)
n.794C>A
n.764C>A
n.732C>A
n.702C>A
dbSNP gnomAD v4
12g.8648153A>CCA384038707MFAP5c.460T>G (p.Ser154Ala)
c.430T>G (p.Ser144Ala)
c.385T>G (p.Ser129Ala)
c.268T>G (p.Ser90Ala)
c.429T>G
c.*112T>G (n.*112T>G)
n.419T>G
c.394T>G (p.Ser132Ala)
c.178T>G (p.Ser60Ala)
n.793T>G
n.763T>G
n.731T>G
n.701T>G
12g.8648153A>GCA384038708MFAP5c.460T>C (p.Ser154Pro)
c.430T>C (p.Ser144Pro)
c.385T>C (p.Ser129Pro)
c.268T>C (p.Ser90Pro)
c.429T>C
c.*112T>C (n.*112T>C)
n.419T>C
c.394T>C (p.Ser132Pro)
c.178T>C (p.Ser60Pro)
n.793T>C
n.763T>C
n.731T>C
n.701T>C
12g.8648153A>TCA384038706MFAP5c.460T>A (p.Ser154Thr)
c.430T>A (p.Ser144Thr)
c.385T>A (p.Ser129Thr)
c.268T>A (p.Ser90Thr)
c.429T>A
c.*112T>A (n.*112T>A)
n.419T>A
c.394T>A (p.Ser132Thr)
c.178T>A (p.Ser60Thr)
n.793T>A
n.763T>A
n.731T>A
n.701T>A
12g.8648154G>ACA478464283MFAP5c.459C>T (p.Arg153=)
c.429C>T (p.Arg143=)
c.384C>T (p.Arg128=)
c.267C>T (p.Arg89=)
c.428C>T
c.*111C>T (n.*111C>T)
n.418C>T
c.393C>T (p.Arg131=)
c.177C>T (p.Arg59=)
n.792C>T
n.762C>T
n.730C>T
n.700C>T
12g.8648154G>CCA478464285MFAP5c.459C>G (p.Arg153=)
c.429C>G (p.Arg143=)
c.384C>G (p.Arg128=)
c.267C>G (p.Arg89=)
c.428C>G
c.*111C>G (n.*111C>G)
n.418C>G
c.393C>G (p.Arg131=)
c.177C>G (p.Arg59=)
n.792C>G
n.762C>G
n.730C>G
n.700C>G
12g.8648154G>TCA478464287MFAP5c.459C>A (p.Arg153=)
c.429C>A (p.Arg143=)
c.384C>A (p.Arg128=)
c.267C>A (p.Arg89=)
c.428C>A
c.*111C>A (n.*111C>A)
n.418C>A
c.393C>A (p.Arg131=)
c.177C>A (p.Arg59=)
n.792C>A
n.762C>A
n.730C>A
n.700C>A
12g.8648155C>ACA384038709MFAP5c.458G>T (p.Arg153Leu)
c.428G>T (p.Arg143Leu)
c.383G>T (p.Arg128Leu)
c.266G>T (p.Arg89Leu)
c.427G>T
c.*110G>T (n.*110G>T)
n.417G>T
c.392G>T (p.Arg131Leu)
c.176G>T (p.Arg59Leu)
n.791G>T
n.761G>T
n.729G>T
n.699G>T
12g.8648155C=CA2015131037MFAP5c.458G= (p.Arg153=)
c.428G= (p.Arg143=)
c.383G= (p.Arg128=)
c.266G= (p.Arg89=)
c.427G=
c.*110G= (n.*110G=)
n.417G=
c.392G= (p.Arg131=)
c.176G= (p.Arg59=)
n.791G=
n.761G=
n.729G=
n.699G=
12g.8648155C>GCA384038710MFAP5c.458G>C (p.Arg153Pro)
c.428G>C (p.Arg143Pro)
c.383G>C (p.Arg128Pro)
c.266G>C (p.Arg89Pro)
c.427G>C
c.*110G>C (n.*110G>C)
n.417G>C
c.392G>C (p.Arg131Pro)
c.176G>C (p.Arg59Pro)
n.791G>C
n.761G>C
n.729G>C
n.699G>C
gnomAD v4
12g.8648155C>TCA6434564MFAP5c.458G>A (p.Arg153His)
c.428G>A (p.Arg143His)
c.383G>A (p.Arg128His)
c.266G>A (p.Arg89His)
c.427G>A
c.*110G>A (n.*110G>A)
n.417G>A
c.392G>A (p.Arg131His)
c.176G>A (p.Arg59His)
n.791G>A
n.761G>A
n.729G>A
n.699G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.8648156G>ACA6434565MFAP5c.457C>T (p.Arg153Cys)
c.427C>T (p.Arg143Cys)
c.382C>T (p.Arg128Cys)
c.265C>T (p.Arg89Cys)
c.426C>T
c.*109C>T (n.*109C>T)
n.416C>T
c.391C>T (p.Arg131Cys)
c.175C>T (p.Arg59Cys)
n.790C>T
n.760C>T
n.728C>T
n.698C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched