Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.3659875C>ACA397692980CTNSc.870C>A (p.Tyr290Ter)
c.117C>A (p.Tyr39Ter)
c.429C>A (p.Tyr143Ter)
n.2796C>A
17g.3659875C=CA2243978497CTNSc.870C= (p.Tyr290=)
c.117C= (p.Tyr39=)
c.429C= (p.Tyr143=)
n.2796C=
17g.3659875C>GCA397692982CTNSc.870C>G (p.Tyr290Ter)
c.117C>G (p.Tyr39Ter)
c.429C>G (p.Tyr143Ter)
n.2796C>G
 ClinVar dbSNP
17g.3659875C>TCA8291943CTNSc.870C>T (p.Tyr290=)
c.117C>T (p.Tyr39=)
c.429C>T (p.Tyr143=)
n.2796C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659876delCA2576123921CTNSc.871del (p.Tyr291ThrfsTer?)
c.118del (p.Tyr40ThrfsTer?)
c.430del (p.Tyr144ThrfsTer?)
n.2797del
17g.3659876T>ACA397692985CTNSc.871T>A (p.Tyr291Asn)
c.118T>A (p.Tyr40Asn)
c.430T>A (p.Tyr144Asn)
n.2797T>A
 dbSNP
17g.3659876T>CCA8291944CTNSc.871T>C (p.Tyr291His)
c.118T>C (p.Tyr40His)
c.430T>C (p.Tyr144His)
n.2797T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659876T>GCA397692987CTNSc.871T>G (p.Tyr291Asp)
c.118T>G (p.Tyr40Asp)
c.430T>G (p.Tyr144Asp)
n.2797T>G
17g.3659876T=CA2243978500CTNSc.871T= (p.Tyr291=)
c.118T= (p.Tyr40=)
c.430T= (p.Tyr144=)
n.2797T=
17g.3659877A=CA2243978504CTNSc.872A= (p.Tyr291=)
c.119A= (p.Tyr40=)
c.431A= (p.Tyr144=)
n.2798A=
17g.3659877A>CCA8291946CTNSc.872A>C (p.Tyr291Ser)
c.119A>C (p.Tyr40Ser)
c.431A>C (p.Tyr144Ser)
n.2798A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659877A>GCA8291945CTNSc.872A>G (p.Tyr291Cys)
c.119A>G (p.Tyr40Cys)
c.431A>G (p.Tyr144Cys)
n.2798A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659877A>TCA397692990CTNSc.872A>T (p.Tyr291Phe)
c.119A>T (p.Tyr40Phe)
c.431A>T (p.Tyr144Phe)
n.2798A>T
17g.3659878C>ACA397692991CTNSc.873C>A (p.Tyr291Ter)
c.120C>A (p.Tyr40Ter)
c.432C>A (p.Tyr144Ter)
n.2799C>A
17g.3659878C>GCA397692993CTNSc.873C>G (p.Tyr291Ter)
c.120C>G (p.Tyr40Ter)
c.432C>G (p.Tyr144Ter)
n.2799C>G
17g.3659878C>TCA497466523CTNSc.873C>T (p.Tyr291=)
c.120C>T (p.Tyr40=)
c.432C>T (p.Tyr144=)
n.2799C>T
17g.3659879A=CA2243978507CTNSc.874A= (p.Lys292=)
c.121A= (p.Lys41=)
c.433A= (p.Lys145=)
n.2800A=
17g.3659879A>CCA397692995CTNSc.874A>C (p.Lys292Gln)
c.121A>C (p.Lys41Gln)
c.433A>C (p.Lys145Gln)
n.2800A>C
17g.3659879A>GCA287019835CTNSc.874A>G (p.Lys292Glu)
c.121A>G (p.Lys41Glu)
c.433A>G (p.Lys145Glu)
n.2800A>G
 dbSNP
17g.3659879A>TCA397692997CTNSc.874A>T (p.Lys292Ter)
c.121A>T (p.Lys41Ter)
c.433A>T (p.Lys145Ter)
n.2800A>T
17g.3659882dupCA2695201209CTNSc.877dup (p.Ser293LysfsTer3)
c.124dup (p.Ser42LysfsTer3)
c.436dup (p.Ser146LysfsTer3)
n.2803dup
 ClinVar
17g.3659880A=CA2243978509CTNSc.875A= (p.Lys292=)
c.122A= (p.Lys41=)
c.434A= (p.Lys145=)
n.2801A=
17g.3659880A>CCA397693001CTNSc.875A>C (p.Lys292Thr)
c.122A>C (p.Lys41Thr)
c.434A>C (p.Lys145Thr)
n.2801A>C
17g.3659880A>GCA287019837CTNSc.875A>G (p.Lys292Arg)
c.122A>G (p.Lys41Arg)
c.434A>G (p.Lys145Arg)
n.2801A>G
 dbSNP
17g.3659880A>TCA397692999CTNSc.875A>T (p.Lys292Ile)
c.122A>T (p.Lys41Ile)
c.434A>T (p.Lys145Ile)
n.2801A>T
17g.3659881A>CCA397693003CTNSc.876A>C (p.Lys292Asn)
c.123A>C (p.Lys41Asn)
c.435A>C (p.Lys145Asn)
n.2802A>C
17g.3659881A>GCA497466532CTNSc.876A>G (p.Lys292=)
c.123A>G (p.Lys41=)
c.435A>G (p.Lys145=)
n.2802A>G
17g.3659881A>TCA397693005CTNSc.876A>T (p.Lys292Asn)
c.123A>T (p.Lys41Asn)
c.435A>T (p.Lys145Asn)
n.2802A>T
17g.3659882A=CA2243978511CTNSc.877A= (p.Ser293=)
c.124A= (p.Ser42=)
c.436A= (p.Ser146=)
n.2803A=
17g.3659882A>CCA397693006CTNSc.877A>C (p.Ser293Arg)
c.124A>C (p.Ser42Arg)
c.436A>C (p.Ser146Arg)
n.2803A>C
17g.3659882A>GCA8291947CTNSc.877A>G (p.Ser293Gly)
c.124A>G (p.Ser42Gly)
c.436A>G (p.Ser146Gly)
n.2803A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659882A>TCA397693007CTNSc.877A>T (p.Ser293Cys)
c.124A>T (p.Ser42Cys)
c.436A>T (p.Ser146Cys)
n.2803A>T
17g.3659883G>ACA397693009CTNSc.878G>A (p.Ser293Asn)
c.125G>A (p.Ser42Asn)
c.437G>A (p.Ser146Asn)
n.2804G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.3659883G>CCA397693011CTNSc.878G>C (p.Ser293Thr)
c.125G>C (p.Ser42Thr)
c.437G>C (p.Ser146Thr)
n.2804G>C
17g.3659883G=CA2243978515CTNSc.878G= (p.Ser293=)
c.125G= (p.Ser42=)
c.437G= (p.Ser146=)
n.2804G=
17g.3659883G>TCA397693012CTNSc.878G>T (p.Ser293Ile)
c.125G>T (p.Ser42Ile)
c.437G>T (p.Ser146Ile)
n.2804G>T
17g.3659884C>ACA397693014CTNSc.879C>A (p.Ser293Arg)
c.126C>A (p.Ser42Arg)
c.438C>A (p.Ser146Arg)
n.2805C>A
17g.3659884C=CA2243978516CTNSc.879C= (p.Ser293=)
c.126C= (p.Ser42=)
c.438C= (p.Ser146=)
n.2805C=
17g.3659884C>GCA397693015CTNSc.879C>G (p.Ser293Arg)
c.126C>G (p.Ser42Arg)
c.438C>G (p.Ser146Arg)
n.2805C>G
17g.3659884C>TCA8291948CTNSc.879C>T (p.Ser293=)
c.126C>T (p.Ser42=)
c.438C>T (p.Ser146=)
n.2805C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.3659885A>CCA397693018CTNSc.880A>C (p.Thr294Pro)
c.127A>C (p.Thr43Pro)
c.439A>C (p.Thr147Pro)
n.2806A>C
17g.3659885A>GCA397693019CTNSc.880A>G (p.Thr294Ala)
c.127A>G (p.Thr43Ala)
c.439A>G (p.Thr147Ala)
n.2806A>G
17g.3659885A>TCA397693021CTNSc.880A>T (p.Thr294Ser)
c.127A>T (p.Thr43Ser)
c.439A>T (p.Thr147Ser)
n.2806A>T
17g.3659886C>ACA397693024CTNSc.881C>A (p.Thr294Asn)
c.128C>A (p.Thr43Asn)
c.440C>A (p.Thr147Asn)
n.2807C>A
17g.3659886C=CA2243978517CTNSc.881C= (p.Thr294=)
c.128C= (p.Thr43=)
c.440C= (p.Thr147=)
n.2807C=
17g.3659886C>GCA397693025CTNSc.881C>G (p.Thr294Ser)
c.128C>G (p.Thr43Ser)
c.440C>G (p.Thr147Ser)
n.2807C>G
17g.3659886C>TCA397693023CTNSc.881C>T (p.Thr294Ile)
c.128C>T (p.Thr43Ile)
c.440C>T (p.Thr147Ile)
n.2807C>T
 dbSNP gnomAD v2 gnomAD v4
17g.3659887T>ACA497466546CTNSc.882T>A (p.Thr294=)
c.129T>A (p.Thr43=)
c.441T>A (p.Thr147=)
n.2808T>A
17g.3659887T>CCA497466548CTNSc.882T>C (p.Thr294=)
c.129T>C (p.Thr43=)
c.441T>C (p.Thr147=)
n.2808T>C
 gnomAD v4
17g.3659887T>GCA497466550CTNSc.882T>G (p.Thr294=)
c.129T>G (p.Thr43=)
c.441T>G (p.Thr147=)
n.2808T>G

Number of alleles fetched