Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.8648141G>A | CA295245 | MFAP5 | c.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 |
12 | g.8648141G>C | CA384038679 | MFAP5 | c.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 | |
12 | g.8648141G= | CA2015131033 | MFAP5 | c.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= | |
12 | g.8648141G>T | CA478464196 | MFAP5 | c.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 | |
12 | g.8648142G>A | CA478464201 | MFAP5 | c.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 | |
12 | g.8648142G>C | CA384038680 | MFAP5 | c.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 |
12 | g.8648142G>T | CA384038681 | MFAP5 | c.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 |
12 | g.8648143A>C | CA384038682 | MFAP5 | c.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 | |
12 | g.8648143A>G | CA384038683 | MFAP5 | c.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 | |
12 | g.8648143A>T | CA384038684 | MFAP5 | c.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 | |
12 | g.8648144A>C | CA384038685 | MFAP5 | c.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 | |
12 | g.8648144A>G | CA384038686 | MFAP5 | c.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 | |
12 | g.8648144A>T | CA384038687 | MFAP5 | c.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 | |
12 | g.8648145G>A | CA478464218 | MFAP5 | c.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 |
12 | g.8648145G>C | CA384038688 | MFAP5 | c.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 | |
12 | g.8648145G>T | CA384038689 | MFAP5 | c.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 | |
12 | g.8648146T>A | CA384038690 | MFAP5 | c.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 | |
12 | g.8648146T>C | CA384038691 | MFAP5 | c.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 | |
12 | g.8648146T>G | CA384038692 | MFAP5 | c.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 | |
12 | g.8648147A>C | CA384038695 | MFAP5 | c.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 | |
12 | g.8648147A>G | CA384038693 | MFAP5 | c.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 | |
12 | g.8648147A>T | CA384038694 | MFAP5 | c.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 |
12 | g.8648148A>C | CA384038696 | MFAP5 | c.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 | |
12 | g.8648148A>G | CA478464237 | MFAP5 | c.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 | |
12 | g.8648148A>T | CA384038697 | MFAP5 | c.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 | |
12 | g.8648149T>A | CA384038698 | MFAP5 | c.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 | |
12 | g.8648149T>C | CA232305692 | MFAP5 | c.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 |
12 | g.8648149T>G | CA384038699 | MFAP5 | c.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 | |
12 | g.8648149T= | CA2015131034 | MFAP5 | c.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= | |
12 | g.8648150T>A | CA384038700 | MFAP5 | c.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 | |
12 | g.8648150T>C | CA384038701 | MFAP5 | c.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 |
12 | g.8648150T>G | CA384038702 | MFAP5 | c.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 | |
12 | g.8648151G>A | CA478464257 | MFAP5 | c.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 |
12 | g.8648151G>C | CA478464259 | MFAP5 | c.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 | |
12 | g.8648151G>T | CA478464262 | MFAP5 | c.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 | |
12 | g.8648152G>A | CA384038703 | MFAP5 | c.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 |
12 | g.8648152G>C | CA384038704 | MFAP5 | c.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 |
12 | g.8648152G= | CA2015131035 | MFAP5 | c.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= | |
12 | g.8648152G>T | CA384038705 | MFAP5 | c.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 |
12 | g.8648153A>C | CA384038707 | MFAP5 | c.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 | |
12 | g.8648153A>G | CA384038708 | MFAP5 | c.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 | |
12 | g.8648153A>T | CA384038706 | MFAP5 | c.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 | |
12 | g.8648154G>A | CA478464283 | MFAP5 | c.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 | |
12 | g.8648154G>C | CA478464285 | MFAP5 | c.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 | |
12 | g.8648154G>T | CA478464287 | MFAP5 | c.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 | |
12 | g.8648155C>A | CA384038709 | MFAP5 | c.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 | |
12 | g.8648155C= | CA2015131037 | MFAP5 | c.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= | |
12 | g.8648155C>G | CA384038710 | MFAP5 | c.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 |
12 | g.8648155C>T | CA6434564 | MFAP5 | c.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 |
12 | g.8648156G>A | CA6434565 | MFAP5 | c.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 |