Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149570017G>ACA348868830MMADHCc.848C>T (p.Ala283Val)
c.950C>T (p.Ala317Val)
2g.149570017G>CCA348868831MMADHCc.848C>G (p.Ala283Gly)
c.950C>G (p.Ala317Gly)
2g.149570017G>TCA348868834MMADHCc.848C>A (p.Ala283Glu)
c.950C>A (p.Ala317Glu)
2g.149570018C>ACA348868836MMADHCc.847G>T (p.Ala283Ser)
c.949G>T (p.Ala317Ser)
2g.149570018C>GCA348868839MMADHCc.847G>C (p.Ala283Pro)
c.949G>C (p.Ala317Pro)
2g.149570018C>TCA348868841MMADHCc.847G>A (p.Ala283Thr)
c.949G>A (p.Ala317Thr)
2g.149570019A=CA1297264278MMADHCc.846T= (p.Asn282=)
c.948T= (p.Asn316=)
2g.149570019A>CCA348868844MMADHCc.846T>G (p.Asn282Lys)
c.948T>G (p.Asn316Lys)
2g.149570019A>GCA1902249MMADHCc.846T>C (p.Asn282=)
c.948T>C (p.Asn316=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570019A>TCA348868845MMADHCc.846T>A (p.Asn282Lys)
c.948T>A (p.Asn316Lys)
2g.149570020T>ACA348868850MMADHCc.845A>T (p.Asn282Ile)
c.947A>T (p.Asn316Ile)
 COSMIC
2g.149570020T>CCA1902250MMADHCc.845A>G (p.Asn282Ser)
c.947A>G (p.Asn316Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570020T>GCA348868852MMADHCc.845A>C (p.Asn282Thr)
c.947A>C (p.Asn316Thr)
2g.149570020T=CA1297264279MMADHCc.845A= (p.Asn282=)
c.947A= (p.Asn316=)
2g.149570021T>ACA348868854MMADHCc.844A>T (p.Asn282Tyr)
c.946A>T (p.Asn316Tyr)
2g.149570021T>CCA348868856MMADHCc.844A>G (p.Asn282Asp)
c.946A>G (p.Asn316Asp)
 gnomAD v4
2g.149570021T>GCA348868858MMADHCc.844A>C (p.Asn282His)
c.946A>C (p.Asn316His)
2g.149570022A>CCA429405871MMADHCc.843T>G (p.Thr281=)
c.945T>G (p.Thr315=)
2g.149570022A>GCA429405872MMADHCc.843T>C (p.Thr281=)
c.945T>C (p.Thr315=)
2g.149570022A>TCA429405873MMADHCc.843T>A (p.Thr281=)
c.945T>A (p.Thr315=)
2g.149570023G>ACA1902252MMADHCc.842C>T (p.Thr281Ile)
c.944C>T (p.Thr315Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570023G>CCA1902251MMADHCc.842C>G (p.Thr281Ser)
c.944C>G (p.Thr315Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570023G=CA1297264280MMADHCc.842C= (p.Thr281=)
c.944C= (p.Thr315=)
2g.149570023G>TCA348868862MMADHCc.842C>A (p.Thr281Asn)
c.944C>A (p.Thr315Asn)
2g.149570024T>ACA348868864MMADHCc.841A>T (p.Thr281Ser)
c.943A>T (p.Thr315Ser)
2g.149570024T>CCA348868866MMADHCc.841A>G (p.Thr281Ala)
c.943A>G (p.Thr315Ala)
2g.149570024T>GCA348868868MMADHCc.841A>C (p.Thr281Pro)
c.943A>C (p.Thr315Pro)
2g.149570025G>ACA429405874MMADHCc.840C>T (p.Phe280=)
c.942C>T (p.Phe314=)
 ClinVar dbSNP
2g.149570025G>CCA348868872MMADHCc.840C>G (p.Phe280Leu)
c.942C>G (p.Phe314Leu)
2g.149570025G>TCA348868870MMADHCc.840C>A (p.Phe280Leu)
c.942C>A (p.Phe314Leu)
2g.149570026A>CCA348868874MMADHCc.839T>G (p.Phe280Cys)
c.941T>G (p.Phe314Cys)
2g.149570026A>GCA348868876MMADHCc.839T>C (p.Phe280Ser)
c.941T>C (p.Phe314Ser)
2g.149570026A>TCA348868878MMADHCc.839T>A (p.Phe280Tyr)
c.941T>A (p.Phe314Tyr)
2g.149570027A>CCA348868882MMADHCc.838T>G (p.Phe280Val)
c.940T>G (p.Phe314Val)
2g.149570027A>GCA348868883MMADHCc.838T>C (p.Phe280Leu)
c.940T>C (p.Phe314Leu)
2g.149570027A>TCA348868885MMADHCc.838T>A (p.Phe280Ile)
c.940T>A (p.Phe314Ile)
2g.149570028delCA2661422179MMADHCc.837del (p.Phe280SerfsTer11)
c.939del (p.Phe314SerfsTer11)
 gnomAD v4
2g.149570028G>ACA429405875MMADHCc.837C>T (p.Ile279=)
c.939C>T (p.Ile313=)
2g.149570028G>CCA348868888MMADHCc.837C>G (p.Ile279Met)
c.939C>G (p.Ile313Met)
2g.149570028G>TCA429405876MMADHCc.837C>A (p.Ile279=)
c.939C>A (p.Ile313=)
2g.149570029A>CCA348868895MMADHCc.836T>G (p.Ile279Ser)
c.938T>G (p.Ile313Ser)
2g.149570029A>GCA348868891MMADHCc.836T>C (p.Ile279Thr)
c.938T>C (p.Ile313Thr)
2g.149570029A>TCA348868893MMADHCc.836T>A (p.Ile279Asn)
c.938T>A (p.Ile313Asn)
2g.149570030T>ACA348868897MMADHCc.835A>T (p.Ile279Phe)
c.937A>T (p.Ile313Phe)
2g.149570030T>CCA1902253MMADHCc.835A>G (p.Ile279Val)
c.937A>G (p.Ile313Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570030T>GCA348868901MMADHCc.835A>C (p.Ile279Leu)
c.937A>C (p.Ile313Leu)
2g.149570030T=CA1297264281MMADHCc.835A= (p.Ile279=)
c.937A= (p.Ile313=)
2g.149570031A>CCA348868904MMADHCc.834T>G (p.Ser278Arg)
c.936T>G (p.Ser312Arg)
2g.149570031A>GCA429405877MMADHCc.834T>C (p.Ser278=)
c.936T>C (p.Ser312=)
2g.149570031A>TCA348868906MMADHCc.834T>A (p.Ser278Arg)
c.936T>A (p.Ser312Arg)

Number of alleles fetched