Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.116022564C>ACA386872419MED13Lc.517G>T (p.Gly173Ter)
c.487G>T (p.Gly163Ter)
c.427G>T (p.Gly143Ter)
n.281G>T
12g.116022564C>GCA386872421MED13Lc.517G>C (p.Gly173Arg)
c.487G>C (p.Gly163Arg)
c.427G>C (p.Gly143Arg)
n.281G>C
12g.116022564C>TCA386872417MED13Lc.517G>A (p.Gly173Arg)
c.487G>A (p.Gly163Arg)
c.427G>A (p.Gly143Arg)
n.281G>A
 gnomAD v4
12g.116022564_116022565delinsATCA658797961MED13Lc.516_517delinsAT (p.His172GlnfsTer2)
c.486_487delinsAT (p.His162GlnfsTer2)
c.426_427delinsAT (p.His142GlnfsTer2)
n.280_281delinsAT
 ClinVar dbSNP
12g.116022564_116022565delinsCACA2065398775MED13Lc.516_517delinsTG (p.His172=)
c.486_487delinsTG (p.His162=)
c.426_427delinsTG (p.His142=)
n.280_281delinsTG
12g.116022565A>CCA386872423MED13Lc.516T>G (p.His172Gln)
c.486T>G (p.His162Gln)
c.426T>G (p.His142Gln)
n.280T>G
12g.116022565A>GCA481933629MED13Lc.516T>C (p.His172=)
c.486T>C (p.His162=)
c.426T>C (p.His142=)
n.280T>C
12g.116022565A>TCA386872425MED13Lc.516T>A (p.His172Gln)
c.486T>A (p.His162Gln)
c.426T>A (p.His142Gln)
n.280T>A
12g.116022566T>ACA386872428MED13Lc.515A>T (p.His172Leu)
c.485A>T (p.His162Leu)
c.425A>T (p.His142Leu)
n.279A>T
12g.116022566T>CCA386872432MED13Lc.515A>G (p.His172Arg)
c.485A>G (p.His162Arg)
c.425A>G (p.His142Arg)
n.279A>G
 dbSNP gnomAD v2 gnomAD v4
12g.116022566T>GCA386872429MED13Lc.515A>C (p.His172Pro)
c.485A>C (p.His162Pro)
c.425A>C (p.His142Pro)
n.279A>C
12g.116022566T=CA2065398777MED13Lc.515A= (p.His172=)
c.485A= (p.His162=)
c.425A= (p.His142=)
n.279A=
12g.116022567G>ACA386872434MED13Lc.514C>T (p.His172Tyr)
c.484C>T (p.His162Tyr)
c.424C>T (p.His142Tyr)
n.278C>T
12g.116022567G>CCA386872436MED13Lc.514C>G (p.His172Asp)
c.484C>G (p.His162Asp)
c.424C>G (p.His142Asp)
n.278C>G
12g.116022567G>TCA386872438MED13Lc.514C>A (p.His172Asn)
c.484C>A (p.His162Asn)
c.424C>A (p.His142Asn)
n.278C>A
12g.116022568C>ACA481933630MED13Lc.513G>T (p.Leu171=)
c.483G>T (p.Leu161=)
c.423G>T (p.Leu141=)
n.277G>T
 gnomAD v4
12g.116022568C>GCA481933631MED13Lc.513G>C (p.Leu171=)
c.483G>C (p.Leu161=)
c.423G>C (p.Leu141=)
n.277G>C
12g.116022568C>TCA481933632MED13Lc.513G>A (p.Leu171=)
c.483G>A (p.Leu161=)
c.423G>A (p.Leu141=)
n.277G>A
12g.116022569A>CCA386872440MED13Lc.512T>G (p.Leu171Arg)
c.482T>G (p.Leu161Arg)
c.422T>G (p.Leu141Arg)
n.276T>G
12g.116022569A>GCA386872442MED13Lc.512T>C (p.Leu171Pro)
c.482T>C (p.Leu161Pro)
c.422T>C (p.Leu141Pro)
n.276T>C
12g.116022569A>TCA386872443MED13Lc.512T>A (p.Leu171Gln)
c.482T>A (p.Leu161Gln)
c.422T>A (p.Leu141Gln)
n.276T>A
12g.116022570G>ACA481933633MED13Lc.511C>T (p.Leu171=)
c.481C>T (p.Leu161=)
c.421C>T (p.Leu141=)
n.275C>T
 ClinVar
12g.116022570G>CCA386872446MED13Lc.511C>G (p.Leu171Val)
c.481C>G (p.Leu161Val)
c.421C>G (p.Leu141Val)
n.275C>G
12g.116022570G>TCA386872447MED13Lc.511C>A (p.Leu171Met)
c.481C>A (p.Leu161Met)
c.421C>A (p.Leu141Met)
n.275C>A
12g.116022571A=CA2065398782MED13Lc.510T= (p.Phe170=)
c.480T= (p.Phe160=)
c.420T= (p.Phe140=)
n.274T=
12g.116022571A>CCA386872450MED13Lc.510T>G (p.Phe170Leu)
c.480T>G (p.Phe160Leu)
c.420T>G (p.Phe140Leu)
n.274T>G
12g.116022571A>GCA481933634MED13Lc.510T>C (p.Phe170=)
c.480T>C (p.Phe160=)
c.420T>C (p.Phe140=)
n.274T>C
12g.116022571A>TCA6811648MED13Lc.510T>A (p.Phe170Leu)
c.480T>A (p.Phe160Leu)
c.420T>A (p.Phe140Leu)
n.274T>A
 dbSNP ExAC gnomAD v2
12g.116022572A>CCA386872457MED13Lc.509T>G (p.Phe170Cys)
c.479T>G (p.Phe160Cys)
c.419T>G (p.Phe140Cys)
n.273T>G
12g.116022572A>GCA386872456MED13Lc.509T>C (p.Phe170Ser)
c.479T>C (p.Phe160Ser)
c.419T>C (p.Phe140Ser)
n.273T>C
12g.116022572A>TCA386872454MED13Lc.509T>A (p.Phe170Tyr)
c.479T>A (p.Phe160Tyr)
c.419T>A (p.Phe140Tyr)
n.273T>A
12g.116022573A>CCA386872460MED13Lc.508T>G (p.Phe170Val)
c.478T>G (p.Phe160Val)
c.418T>G (p.Phe140Val)
n.272T>G
12g.116022573A>GCA386872462MED13Lc.508T>C (p.Phe170Leu)
c.478T>C (p.Phe160Leu)
c.418T>C (p.Phe140Leu)
n.272T>C
12g.116022573A>TCA386872463MED13Lc.508T>A (p.Phe170Ile)
c.478T>A (p.Phe160Ile)
c.418T>A (p.Phe140Ile)
n.272T>A
12g.116022574G>ACA481933635MED13Lc.507C>T (p.Phe169=)
c.477C>T (p.Phe159=)
c.417C>T (p.Phe139=)
n.271C>T
12g.116022574G>CCA386872466MED13Lc.507C>G (p.Phe169Leu)
c.477C>G (p.Phe159Leu)
c.417C>G (p.Phe139Leu)
n.271C>G
12g.116022574G>TCA386872468MED13Lc.507C>A (p.Phe169Leu)
c.477C>A (p.Phe159Leu)
c.417C>A (p.Phe139Leu)
n.271C>A
12g.116022574_116022575insTCA2575306988MED13Lc.506_507insA (p.Phe169LeufsTer8)
c.476_477insA (p.Phe159LeufsTer8)
c.416_417insA (p.Phe139LeufsTer8)
n.270_271insA
12g.116022575A=CA2065398787MED13Lc.506T= (p.Phe169=)
c.476T= (p.Phe159=)
c.416T= (p.Phe139=)
n.270T=
12g.116022575A>CCA386872469MED13Lc.506T>G (p.Phe169Cys)
c.476T>G (p.Phe159Cys)
c.416T>G (p.Phe139Cys)
n.270T>G
 dbSNP
12g.116022575A>GCA386872470MED13Lc.506T>C (p.Phe169Ser)
c.476T>C (p.Phe159Ser)
c.416T>C (p.Phe139Ser)
n.270T>C
12g.116022575A>TCA386872472MED13Lc.506T>A (p.Phe169Tyr)
c.476T>A (p.Phe159Tyr)
c.416T>A (p.Phe139Tyr)
n.270T>A
12g.116022576A>CCA386872475MED13Lc.505T>G (p.Phe169Val)
c.475T>G (p.Phe159Val)
c.415T>G (p.Phe139Val)
n.269T>G
12g.116022576A>GCA386872476MED13Lc.505T>C (p.Phe169Leu)
c.475T>C (p.Phe159Leu)
c.415T>C (p.Phe139Leu)
n.269T>C
12g.116022576A>TCA386872479MED13Lc.505T>A (p.Phe169Ile)
c.475T>A (p.Phe159Ile)
c.415T>A (p.Phe139Ile)
n.269T>A
12g.116022577T>ACA481933636MED13Lc.504A>T (p.Thr168=)
c.474A>T (p.Thr158=)
c.414A>T (p.Thr138=)
n.268A>T
 dbSNP
12g.116022577T>CCA6811649MED13Lc.504A>G (p.Thr168=)
c.474A>G (p.Thr158=)
c.414A>G (p.Thr138=)
n.268A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.116022577T>GCA481933637MED13Lc.504A>C (p.Thr168=)
c.474A>C (p.Thr158=)
c.414A>C (p.Thr138=)
n.268A>C
12g.116022577T=CA2065398791MED13Lc.504A= (p.Thr168=)
c.474A= (p.Thr158=)
c.414A= (p.Thr138=)
n.268A=
12g.116022578G>ACA386872484MED13Lc.503C>T (p.Thr168Ile)
c.473C>T (p.Thr158Ile)
c.413C>T (p.Thr138Ile)
n.267C>T
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched