Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.3659874A>C | CA397692974 | CTNS | c.869A>C (p.Tyr290Ser) c.116A>C (p.Tyr39Ser) c.428A>C (p.Tyr143Ser) n.2795A>C | ClinVar gnomAD v4 |
17 | g.3659874A>G | CA397692977 | CTNS | c.869A>G (p.Tyr290Cys) c.116A>G (p.Tyr39Cys) c.428A>G (p.Tyr143Cys) n.2795A>G | |
17 | g.3659874A>T | CA397692976 | CTNS | c.869A>T (p.Tyr290Phe) c.116A>T (p.Tyr39Phe) c.428A>T (p.Tyr143Phe) n.2795A>T | |
17 | g.3659874dup | CA658823875 | CTNS | c.869dup (p.Tyr290Ter) c.116dup (p.Tyr39Ter) c.428dup (p.Tyr143Ter) n.2795dup | ClinVar dbSNP |
17 | g.3659875C>A | CA397692980 | CTNS | c.870C>A (p.Tyr290Ter) c.117C>A (p.Tyr39Ter) c.429C>A (p.Tyr143Ter) n.2796C>A | |
17 | g.3659875C= | CA2243978497 | CTNS | c.870C= (p.Tyr290=) c.117C= (p.Tyr39=) c.429C= (p.Tyr143=) n.2796C= | |
17 | g.3659875C>G | CA397692982 | CTNS | c.870C>G (p.Tyr290Ter) c.117C>G (p.Tyr39Ter) c.429C>G (p.Tyr143Ter) n.2796C>G | ClinVar dbSNP |
17 | g.3659875C>T | CA8291943 | CTNS | c.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 |
17 | g.3659876del | CA2576123921 | CTNS | c.871del (p.Tyr291ThrfsTer?) c.118del (p.Tyr40ThrfsTer?) c.430del (p.Tyr144ThrfsTer?) n.2797del | |
17 | g.3659876T>A | CA397692985 | CTNS | c.871T>A (p.Tyr291Asn) c.118T>A (p.Tyr40Asn) c.430T>A (p.Tyr144Asn) n.2797T>A | dbSNP |
17 | g.3659876T>C | CA8291944 | CTNS | c.871T>C (p.Tyr291His) c.118T>C (p.Tyr40His) c.430T>C (p.Tyr144His) n.2797T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659876T>G | CA397692987 | CTNS | c.871T>G (p.Tyr291Asp) c.118T>G (p.Tyr40Asp) c.430T>G (p.Tyr144Asp) n.2797T>G | |
17 | g.3659876T= | CA2243978500 | CTNS | c.871T= (p.Tyr291=) c.118T= (p.Tyr40=) c.430T= (p.Tyr144=) n.2797T= | |
17 | g.3659877A= | CA2243978504 | CTNS | c.872A= (p.Tyr291=) c.119A= (p.Tyr40=) c.431A= (p.Tyr144=) n.2798A= | |
17 | g.3659877A>C | CA8291946 | CTNS | c.872A>C (p.Tyr291Ser) c.119A>C (p.Tyr40Ser) c.431A>C (p.Tyr144Ser) n.2798A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659877A>G | CA8291945 | CTNS | c.872A>G (p.Tyr291Cys) c.119A>G (p.Tyr40Cys) c.431A>G (p.Tyr144Cys) n.2798A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659877A>T | CA397692990 | CTNS | c.872A>T (p.Tyr291Phe) c.119A>T (p.Tyr40Phe) c.431A>T (p.Tyr144Phe) n.2798A>T | |
17 | g.3659878C>A | CA397692991 | CTNS | c.873C>A (p.Tyr291Ter) c.120C>A (p.Tyr40Ter) c.432C>A (p.Tyr144Ter) n.2799C>A | |
17 | g.3659878C>G | CA397692993 | CTNS | c.873C>G (p.Tyr291Ter) c.120C>G (p.Tyr40Ter) c.432C>G (p.Tyr144Ter) n.2799C>G | |
17 | g.3659878C>T | CA497466523 | CTNS | c.873C>T (p.Tyr291=) c.120C>T (p.Tyr40=) c.432C>T (p.Tyr144=) n.2799C>T | |
17 | g.3659879A= | CA2243978507 | CTNS | c.874A= (p.Lys292=) c.121A= (p.Lys41=) c.433A= (p.Lys145=) n.2800A= | |
17 | g.3659879A>C | CA397692995 | CTNS | c.874A>C (p.Lys292Gln) c.121A>C (p.Lys41Gln) c.433A>C (p.Lys145Gln) n.2800A>C | |
17 | g.3659879A>G | CA287019835 | CTNS | c.874A>G (p.Lys292Glu) c.121A>G (p.Lys41Glu) c.433A>G (p.Lys145Glu) n.2800A>G | dbSNP |
17 | g.3659879A>T | CA397692997 | CTNS | c.874A>T (p.Lys292Ter) c.121A>T (p.Lys41Ter) c.433A>T (p.Lys145Ter) n.2800A>T | |
17 | g.3659882dup | CA2695201209 | CTNS | c.877dup (p.Ser293LysfsTer3) c.124dup (p.Ser42LysfsTer3) c.436dup (p.Ser146LysfsTer3) n.2803dup | ClinVar |
17 | g.3659880A= | CA2243978509 | CTNS | c.875A= (p.Lys292=) c.122A= (p.Lys41=) c.434A= (p.Lys145=) n.2801A= | |
17 | g.3659880A>C | CA397693001 | CTNS | c.875A>C (p.Lys292Thr) c.122A>C (p.Lys41Thr) c.434A>C (p.Lys145Thr) n.2801A>C | |
17 | g.3659880A>G | CA287019837 | CTNS | c.875A>G (p.Lys292Arg) c.122A>G (p.Lys41Arg) c.434A>G (p.Lys145Arg) n.2801A>G | dbSNP |
17 | g.3659880A>T | CA397692999 | CTNS | c.875A>T (p.Lys292Ile) c.122A>T (p.Lys41Ile) c.434A>T (p.Lys145Ile) n.2801A>T | |
17 | g.3659881A>C | CA397693003 | CTNS | c.876A>C (p.Lys292Asn) c.123A>C (p.Lys41Asn) c.435A>C (p.Lys145Asn) n.2802A>C | |
17 | g.3659881A>G | CA497466532 | CTNS | c.876A>G (p.Lys292=) c.123A>G (p.Lys41=) c.435A>G (p.Lys145=) n.2802A>G | |
17 | g.3659881A>T | CA397693005 | CTNS | c.876A>T (p.Lys292Asn) c.123A>T (p.Lys41Asn) c.435A>T (p.Lys145Asn) n.2802A>T | |
17 | g.3659882A= | CA2243978511 | CTNS | c.877A= (p.Ser293=) c.124A= (p.Ser42=) c.436A= (p.Ser146=) n.2803A= | |
17 | g.3659882A>C | CA397693006 | CTNS | c.877A>C (p.Ser293Arg) c.124A>C (p.Ser42Arg) c.436A>C (p.Ser146Arg) n.2803A>C | |
17 | g.3659882A>G | CA8291947 | CTNS | c.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 |
17 | g.3659882A>T | CA397693007 | CTNS | c.877A>T (p.Ser293Cys) c.124A>T (p.Ser42Cys) c.436A>T (p.Ser146Cys) n.2803A>T | |
17 | g.3659883G>A | CA397693009 | CTNS | c.878G>A (p.Ser293Asn) c.125G>A (p.Ser42Asn) c.437G>A (p.Ser146Asn) n.2804G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.3659883G>C | CA397693011 | CTNS | c.878G>C (p.Ser293Thr) c.125G>C (p.Ser42Thr) c.437G>C (p.Ser146Thr) n.2804G>C | |
17 | g.3659883G= | CA2243978515 | CTNS | c.878G= (p.Ser293=) c.125G= (p.Ser42=) c.437G= (p.Ser146=) n.2804G= | |
17 | g.3659883G>T | CA397693012 | CTNS | c.878G>T (p.Ser293Ile) c.125G>T (p.Ser42Ile) c.437G>T (p.Ser146Ile) n.2804G>T | |
17 | g.3659884C>A | CA397693014 | CTNS | c.879C>A (p.Ser293Arg) c.126C>A (p.Ser42Arg) c.438C>A (p.Ser146Arg) n.2805C>A | |
17 | g.3659884C= | CA2243978516 | CTNS | c.879C= (p.Ser293=) c.126C= (p.Ser42=) c.438C= (p.Ser146=) n.2805C= | |
17 | g.3659884C>G | CA397693015 | CTNS | c.879C>G (p.Ser293Arg) c.126C>G (p.Ser42Arg) c.438C>G (p.Ser146Arg) n.2805C>G | |
17 | g.3659884C>T | CA8291948 | CTNS | c.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 |
17 | g.3659885A>C | CA397693018 | CTNS | c.880A>C (p.Thr294Pro) c.127A>C (p.Thr43Pro) c.439A>C (p.Thr147Pro) n.2806A>C | |
17 | g.3659885A>G | CA397693019 | CTNS | c.880A>G (p.Thr294Ala) c.127A>G (p.Thr43Ala) c.439A>G (p.Thr147Ala) n.2806A>G | |
17 | g.3659885A>T | CA397693021 | CTNS | c.880A>T (p.Thr294Ser) c.127A>T (p.Thr43Ser) c.439A>T (p.Thr147Ser) n.2806A>T | |
17 | g.3659886C>A | CA397693024 | CTNS | c.881C>A (p.Thr294Asn) c.128C>A (p.Thr43Asn) c.440C>A (p.Thr147Asn) n.2807C>A | |
17 | g.3659886C= | CA2243978517 | CTNS | c.881C= (p.Thr294=) c.128C= (p.Thr43=) c.440C= (p.Thr147=) n.2807C= | |
17 | g.3659886C>G | CA397693025 | CTNS | c.881C>G (p.Thr294Ser) c.128C>G (p.Thr43Ser) c.440C>G (p.Thr147Ser) n.2807C>G |