Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.3659867A>C | CA397692936 | CTNS | c.862A>C (p.Asn288His) c.109A>C (p.Asn37His) c.421A>C (p.Asn141His) n.2788A>C | |
17 | g.3659867A>G | CA397692938 | CTNS | c.862A>G (p.Asn288Asp) c.109A>G (p.Asn37Asp) c.421A>G (p.Asn141Asp) n.2788A>G | |
17 | g.3659867A>T | CA397692940 | CTNS | c.862A>T (p.Asn288Tyr) c.109A>T (p.Asn37Tyr) c.421A>T (p.Asn141Tyr) n.2788A>T | |
17 | g.3659868A= | CA2243978483 | CTNS | c.863A= (p.Asn288=) c.110A= (p.Asn37=) c.422A= (p.Asn141=) n.2789A= | |
17 | g.3659868A>C | CA397692942 | CTNS | c.863A>C (p.Asn288Thr) c.110A>C (p.Asn37Thr) c.422A>C (p.Asn141Thr) n.2789A>C | |
17 | g.3659868A>G | CA397692943 | CTNS | c.863A>G (p.Asn288Ser) c.110A>G (p.Asn37Ser) c.422A>G (p.Asn141Ser) n.2789A>G | dbSNP |
17 | g.3659868A>T | CA397692945 | CTNS | c.863A>T (p.Asn288Ile) c.110A>T (p.Asn37Ile) c.422A>T (p.Asn141Ile) n.2789A>T | |
17 | g.3659869C>A | CA397692947 | CTNS | c.864C>A (p.Asn288Lys) c.111C>A (p.Asn37Lys) c.423C>A (p.Asn141Lys) n.2790C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.3659869C= | CA2243978485 | CTNS | c.864C= (p.Asn288=) c.111C= (p.Asn37=) c.423C= (p.Asn141=) n.2790C= | |
17 | g.3659869C>G | CA397692949 | CTNS | c.864C>G (p.Asn288Lys) c.111C>G (p.Asn37Lys) c.423C>G (p.Asn141Lys) n.2790C>G | |
17 | g.3659869C>T | CA497466502 | CTNS | c.864C>T (p.Asn288=) c.111C>T (p.Asn37=) c.423C>T (p.Asn141=) n.2790C>T | |
17 | g.3659870T>A | CA397692951 | CTNS | c.865T>A (p.Phe289Ile) c.112T>A (p.Phe38Ile) c.424T>A (p.Phe142Ile) n.2791T>A | |
17 | g.3659870T>C | CA397692953 | CTNS | c.865T>C (p.Phe289Leu) c.112T>C (p.Phe38Leu) c.424T>C (p.Phe142Leu) n.2791T>C | gnomAD v4 |
17 | g.3659870T>G | CA397692954 | CTNS | c.865T>G (p.Phe289Val) c.112T>G (p.Phe38Val) c.424T>G (p.Phe142Val) n.2791T>G | gnomAD v4 |
17 | g.3659873dup | CA913010138 | CTNS | c.868dup (p.Tyr290LeufsTer6) c.115dup (p.Tyr39LeufsTer6) c.427dup (p.Tyr143LeufsTer6) n.2794dup | |
17 | g.3659871T>A | CA397692957 | CTNS | c.866T>A (p.Phe289Tyr) c.113T>A (p.Phe38Tyr) c.425T>A (p.Phe142Tyr) n.2792T>A | |
17 | g.3659871T>C | CA397692959 | CTNS | c.866T>C (p.Phe289Ser) c.113T>C (p.Phe38Ser) c.425T>C (p.Phe142Ser) n.2792T>C | |
17 | g.3659871T>G | CA397692961 | CTNS | c.866T>G (p.Phe289Cys) c.113T>G (p.Phe38Cys) c.425T>G (p.Phe142Cys) n.2792T>G | |
17 | g.3659872T>A | CA397692963 | CTNS | c.867T>A (p.Phe289Leu) c.114T>A (p.Phe38Leu) c.426T>A (p.Phe142Leu) n.2793T>A | |
17 | g.3659872T>C | CA8291942 | CTNS | c.867T>C (p.Phe289=) c.114T>C (p.Phe38=) c.426T>C (p.Phe142=) n.2793T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659872T>G | CA397692966 | CTNS | c.867T>G (p.Phe289Leu) c.114T>G (p.Phe38Leu) c.426T>G (p.Phe142Leu) n.2793T>G | |
17 | g.3659872T= | CA2243978486 | CTNS | c.867T= (p.Phe289=) c.114T= (p.Phe38=) c.426T= (p.Phe142=) n.2793T= | |
17 | g.3659873T>A | CA397692969 | CTNS | c.868T>A (p.Tyr290Asn) c.115T>A (p.Tyr39Asn) c.427T>A (p.Tyr143Asn) n.2794T>A | |
17 | g.3659873T>C | CA397692971 | CTNS | c.868T>C (p.Tyr290His) c.115T>C (p.Tyr39His) c.427T>C (p.Tyr143His) n.2794T>C | |
17 | g.3659873T>G | CA397692973 | CTNS | c.868T>G (p.Tyr290Asp) c.115T>G (p.Tyr39Asp) c.427T>G (p.Tyr143Asp) n.2794T>G | |
17 | g.3659873T= | CA2243978489 | CTNS | c.868T= (p.Tyr290=) c.115T= (p.Tyr39=) c.427T= (p.Tyr143=) n.2794T= | |
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 | |
17 | g.3659886C>T | CA397693023 | CTNS | c.881C>T (p.Thr294Ile) c.128C>T (p.Thr43Ile) c.440C>T (p.Thr147Ile) n.2807C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3659887T>A | CA497466546 | CTNS | c.882T>A (p.Thr294=) c.129T>A (p.Thr43=) c.441T>A (p.Thr147=) n.2808T>A | |
17 | g.3659887T>C | CA497466548 | CTNS | c.882T>C (p.Thr294=) c.129T>C (p.Thr43=) c.441T>C (p.Thr147=) n.2808T>C | gnomAD v4 |
17 | g.3659887T>G | CA497466550 | CTNS | c.882T>G (p.Thr294=) c.129T>G (p.Thr43=) c.441T>G (p.Thr147=) n.2808T>G | |
17 | g.3659887_3659888dup | CA2243978519 | CTNS | c.882_883dup (p.Glu295ValfsTer?) c.129_130dup (p.Glu44ValfsTer?) c.441_442dup (p.Glu148ValfsTer?) n.2808_2809dup | dbSNP gnomAD v4 |
17 | g.3659888G>A | CA287019843 | CTNS | c.883G>A (p.Glu295Lys) c.130G>A (p.Glu44Lys) c.442G>A (p.Glu148Lys) n.2809G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.3659888G>C | CA397693028 | CTNS | c.883G>C (p.Glu295Gln) c.130G>C (p.Glu44Gln) c.442G>C (p.Glu148Gln) n.2809G>C | |
17 | g.3659888G= | CA2243978522 | CTNS | c.883G= (p.Glu295=) c.130G= (p.Glu44=) c.442G= (p.Glu148=) n.2809G= | |
17 | g.3659888G>T | CA397693029 | CTNS | c.883G>T (p.Glu295Ter) c.130G>T (p.Glu44Ter) c.442G>T (p.Glu148Ter) n.2809G>T | |
17 | g.3659889A= | CA2243978525 | CTNS | c.884A= (p.Glu295=) c.131A= (p.Glu44=) c.443A= (p.Glu148=) n.2810A= | |
17 | g.3659889A>C | CA397693031 | CTNS | c.884A>C (p.Glu295Ala) c.131A>C (p.Glu44Ala) c.443A>C (p.Glu148Ala) n.2810A>C | |
17 | g.3659889A>G | CA397693033 | CTNS | c.884A>G (p.Glu295Gly) c.131A>G (p.Glu44Gly) c.443A>G (p.Glu148Gly) n.2810A>G | |
17 | g.3659889A>T | CA397693035 | CTNS | c.884A>T (p.Glu295Val) c.131A>T (p.Glu44Val) c.443A>T (p.Glu148Val) n.2810A>T | |
17 | g.3659890G>A | CA8291949 | CTNS | c.885G>A (p.Glu295=) c.132G>A (p.Glu44=) c.444G>A (p.Glu148=) n.2811G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659890G>C | CA397693037 | CTNS | c.885G>C (p.Glu295Asp) c.132G>C (p.Glu44Asp) c.444G>C (p.Glu148Asp) n.2811G>C | |
17 | g.3659890G= | CA2243978527 | CTNS | c.885G= (p.Glu295=) c.132G= (p.Glu44=) c.444G= (p.Glu148=) n.2811G= | |
17 | g.3659890G>T | CA397693039 | CTNS | c.885G>T (p.Glu295Asp) c.132G>T (p.Glu44Asp) c.444G>T (p.Glu148Asp) n.2811G>T | |
17 | g.3659892dup | CA287019845 | CTNS | c.887dup (p.Trp297LeufsTer?) c.134dup (p.Trp46LeufsTer?) c.446dup (p.Trp150LeufsTer?) n.2813dup | dbSNP |
17 | g.3659891G>A | CA8291950 | CTNS | c.886G>A (p.Gly296Ser) c.133G>A (p.Gly45Ser) c.445G>A (p.Gly149Ser) n.2812G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659891G>C | CA397693042 | CTNS | c.886G>C (p.Gly296Arg) c.133G>C (p.Gly45Arg) c.445G>C (p.Gly149Arg) n.2812G>C | |
17 | g.3659891G= | CA2243978533 | CTNS | c.886G= (p.Gly296=) c.133G= (p.Gly45=) c.445G= (p.Gly149=) n.2812G= | |
17 | g.3659891G>T | CA397693044 | CTNS | c.886G>T (p.Gly296Cys) c.133G>T (p.Gly45Cys) c.445G>T (p.Gly149Cys) n.2812G>T | |
17 | g.3659892G>A | CA397693050 | CTNS | c.887G>A (p.Gly296Asp) c.134G>A (p.Gly45Asp) c.446G>A (p.Gly149Asp) n.2813G>A | |
17 | g.3659892G>C | CA397693048 | CTNS | c.887G>C (p.Gly296Ala) c.134G>C (p.Gly45Ala) c.446G>C (p.Gly149Ala) n.2813G>C | |
17 | g.3659892G>T | CA397693046 | CTNS | c.887G>T (p.Gly296Val) c.134G>T (p.Gly45Val) c.446G>T (p.Gly149Val) n.2813G>T | |
17 | g.3659893C>A | CA497466564 | CTNS | c.888C>A (p.Gly296=) c.135C>A (p.Gly45=) c.447C>A (p.Gly149=) n.2814C>A | |
17 | g.3659893C>G | CA497466565 | CTNS | c.888C>G (p.Gly296=) c.135C>G (p.Gly45=) c.447C>G (p.Gly149=) n.2814C>G | |
17 | g.3659893C>T | CA497466567 | CTNS | c.888C>T (p.Gly296=) c.135C>T (p.Gly45=) c.447C>T (p.Gly149=) n.2814C>T | |
17 | g.3659894T>A | CA397693052 | CTNS | c.889T>A (p.Trp297Arg) c.136T>A (p.Trp46Arg) c.448T>A (p.Trp150Arg) n.2815T>A | |
17 | g.3659894T>C | CA397693054 | CTNS | c.889T>C (p.Trp297Arg) c.136T>C (p.Trp46Arg) c.448T>C (p.Trp150Arg) n.2815T>C | |
17 | g.3659894T>G | CA397693056 | CTNS | c.889T>G (p.Trp297Gly) c.136T>G (p.Trp46Gly) c.448T>G (p.Trp150Gly) n.2815T>G | |
17 | g.3659895G>A | CA287019849 | CTNS | c.890G>A (p.Trp297Ter) c.137G>A (p.Trp46Ter) c.449G>A (p.Trp150Ter) n.2816G>A | ClinVar dbSNP gnomAD v4 |
17 | g.3659895G>C | CA397693059 | CTNS | c.890G>C (p.Trp297Ser) c.137G>C (p.Trp46Ser) c.449G>C (p.Trp150Ser) n.2816G>C | |
17 | g.3659895G= | CA2243978540 | CTNS | c.890G= (p.Trp297=) c.137G= (p.Trp46=) c.449G= (p.Trp150=) n.2816G= | |
17 | g.3659895G>T | CA397693060 | CTNS | c.890G>T (p.Trp297Leu) c.137G>T (p.Trp46Leu) c.449G>T (p.Trp150Leu) n.2816G>T | |
17 | g.3659896G>A | CA397693062 | CTNS | c.891G>A (p.Trp297Ter) c.138G>A (p.Trp46Ter) c.450G>A (p.Trp150Ter) n.2817G>A | |
17 | g.3659896G>C | CA397693064 | CTNS | c.891G>C (p.Trp297Cys) c.138G>C (p.Trp46Cys) c.450G>C (p.Trp150Cys) n.2817G>C | gnomAD v4 |
17 | g.3659896G>T | CA397693066 | CTNS | c.891G>T (p.Trp297Cys) c.138G>T (p.Trp46Cys) c.450G>T (p.Trp150Cys) n.2817G>T | |
17 | g.3659897A= | CA2243978542 | CTNS | c.892A= (p.Ser298=) c.139A= (p.Ser47=) c.451A= (p.Ser151=) n.2818A= | |
17 | g.3659897A>C | CA397693068 | CTNS | c.892A>C (p.Ser298Arg) c.139A>C (p.Ser47Arg) c.451A>C (p.Ser151Arg) n.2818A>C | |
17 | g.3659897A>G | CA397693069 | CTNS | c.892A>G (p.Ser298Gly) c.139A>G (p.Ser47Gly) c.451A>G (p.Ser151Gly) n.2818A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659897A>T | CA397693071 | CTNS | c.892A>T (p.Ser298Cys) c.139A>T (p.Ser47Cys) c.451A>T (p.Ser151Cys) n.2818A>T | |
17 | g.3659898G>A | CA397693073 | CTNS | c.893G>A (p.Ser298Asn) c.140G>A (p.Ser47Asn) c.452G>A (p.Ser151Asn) n.2819G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3659898G>C | CA397693076 | CTNS | c.893G>C (p.Ser298Thr) c.140G>C (p.Ser47Thr) c.452G>C (p.Ser151Thr) n.2819G>C | |
17 | g.3659898G= | CA2243978543 | CTNS | c.893G= (p.Ser298=) c.140G= (p.Ser47=) c.452G= (p.Ser151=) n.2819G= | |
17 | g.3659898G>T | CA397693075 | CTNS | c.893G>T (p.Ser298Ile) c.140G>T (p.Ser47Ile) c.452G>T (p.Ser151Ile) n.2819G>T | |
17 | g.3659899C>A | CA397693079 | CTNS | c.894C>A (p.Ser298Arg) c.141C>A (p.Ser47Arg) c.453C>A (p.Ser151Arg) n.2820C>A | |
17 | g.3659899C>G | CA397693081 | CTNS | c.894C>G (p.Ser298Arg) c.141C>G (p.Ser47Arg) c.453C>G (p.Ser151Arg) n.2820C>G | |
17 | g.3659899C>T | CA497466578 | CTNS | c.894C>T (p.Ser298=) c.141C>T (p.Ser47=) c.453C>T (p.Ser151=) n.2820C>T | gnomAD v4 |
17 | g.3659900A>C | CA397693082 | CTNS | c.895A>C (p.Ile299Leu) c.142A>C (p.Ile48Leu) c.454A>C (p.Ile152Leu) n.2821A>C | |
17 | g.3659900A>G | CA397693083 | CTNS | c.895A>G (p.Ile299Val) c.142A>G (p.Ile48Val) c.454A>G (p.Ile152Val) n.2821A>G | gnomAD v4 |
17 | g.3659900A>T | CA397693085 | CTNS | c.895A>T (p.Ile299Phe) c.142A>T (p.Ile48Phe) c.454A>T (p.Ile152Phe) n.2821A>T | |
17 | g.3659901T>A | CA397693087 | CTNS | c.896T>A (p.Ile299Asn) c.143T>A (p.Ile48Asn) c.455T>A (p.Ile152Asn) n.2822T>A | |
17 | g.3659901T>C | CA397693088 | CTNS | c.896T>C (p.Ile299Thr) c.143T>C (p.Ile48Thr) c.455T>C (p.Ile152Thr) n.2822T>C | gnomAD v4 |
17 | g.3659901T>G | CA397693089 | CTNS | c.896T>G (p.Ile299Ser) c.143T>G (p.Ile48Ser) c.455T>G (p.Ile152Ser) n.2822T>G | |
17 | g.3659902T>A | CA497466585 | CTNS | c.897T>A (p.Ile299=) c.144T>A (p.Ile48=) c.456T>A (p.Ile152=) n.2823T>A | |
17 | g.3659902T>C | CA8291951 | CTNS | c.897T>C (p.Ile299=) c.144T>C (p.Ile48=) c.456T>C (p.Ile152=) n.2823T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659902T>G | CA397693091 | CTNS | c.897T>G (p.Ile299Met) c.144T>G (p.Ile48Met) c.456T>G (p.Ile152Met) n.2823T>G | |
17 | g.3659902T= | CA2243978546 | CTNS | c.897T= (p.Ile299=) c.144T= (p.Ile48=) c.456T= (p.Ile152=) n.2823T= | |
17 | g.3659903G>A | CA397693094 | CTNS | c.898G>A (p.Gly300Ser) c.145G>A (p.Gly49Ser) c.457G>A (p.Gly153Ser) n.2824G>A | |
17 | g.3659903G>C | CA397693096 | CTNS | c.898G>C (p.Gly300Arg) c.145G>C (p.Gly49Arg) c.457G>C (p.Gly153Arg) n.2824G>C | |
17 | g.3659903G>T | CA397693098 | CTNS | c.898G>T (p.Gly300Cys) c.145G>T (p.Gly49Cys) c.457G>T (p.Gly153Cys) n.2824G>T | |
17 | g.3659904G>A | CA397693104 | CTNS | c.899G>A (p.Gly300Asp) c.146G>A (p.Gly49Asp) c.458G>A (p.Gly153Asp) n.2825G>A | gnomAD v4 |
17 | g.3659904G>C | CA397693102 | CTNS | c.899G>C (p.Gly300Ala) c.146G>C (p.Gly49Ala) c.458G>C (p.Gly153Ala) n.2825G>C | |
17 | g.3659904G>T | CA397693100 | CTNS | c.899G>T (p.Gly300Val) c.146G>T (p.Gly49Val) c.458G>T (p.Gly153Val) n.2825G>T | |
17 | g.3659905C>A | CA497466593 | CTNS | c.900C>A (p.Gly300=) c.147C>A (p.Gly49=) c.459C>A (p.Gly153=) n.2826C>A | |
17 | g.3659905C= | CA2243978549 | CTNS | c.900C= (p.Gly300=) c.147C= (p.Gly49=) c.459C= (p.Gly153=) n.2826C= | |
17 | g.3659905C>G | CA497466595 | CTNS | c.900C>G (p.Gly300=) c.147C>G (p.Gly49=) c.459C>G (p.Gly153=) n.2826C>G | |
17 | g.3659905C>T | CA287019853 | CTNS | c.900C>T (p.Gly300=) c.147C>T (p.Gly49=) c.459C>T (p.Gly153=) n.2826C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659906A>C | CA397693106 | CTNS | c.901A>C (p.Asn301His) c.148A>C (p.Asn50His) c.460A>C (p.Asn154His) n.2827A>C | |
17 | g.3659906A>G | CA397693107 | CTNS | c.901A>G (p.Asn301Asp) c.148A>G (p.Asn50Asp) c.460A>G (p.Asn154Asp) n.2827A>G | |
17 | g.3659906A>T | CA397693109 | CTNS | c.901A>T (p.Asn301Tyr) c.148A>T (p.Asn50Tyr) c.460A>T (p.Asn154Tyr) n.2827A>T | |
17 | g.3659907A= | CA2243978552 | CTNS | c.902A= (p.Asn301=) c.149A= (p.Asn50=) c.461A= (p.Asn154=) n.2828A= | |
17 | g.3659907A>C | CA397693111 | CTNS | c.902A>C (p.Asn301Thr) c.149A>C (p.Asn50Thr) c.461A>C (p.Asn154Thr) n.2828A>C | |
17 | g.3659907A>G | CA8291952 | CTNS | c.902A>G (p.Asn301Ser) c.149A>G (p.Asn50Ser) c.461A>G (p.Asn154Ser) n.2828A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659907A>T | CA397693112 | CTNS | c.902A>T (p.Asn301Ile) c.149A>T (p.Asn50Ile) c.461A>T (p.Asn154Ile) n.2828A>T | |
17 | g.3659908C>A | CA397693116 | CTNS | c.903C>A (p.Asn301Lys) c.150C>A (p.Asn50Lys) c.462C>A (p.Asn154Lys) n.2829C>A | gnomAD v4 |
17 | g.3659908C= | CA2243978554 | CTNS | c.903C= (p.Asn301=) c.150C= (p.Asn50=) c.462C= (p.Asn154=) n.2829C= | |
17 | g.3659908C>G | CA397693117 | CTNS | c.903C>G (p.Asn301Lys) c.150C>G (p.Asn50Lys) c.462C>G (p.Asn154Lys) n.2829C>G | |
17 | g.3659908C>T | CA8291953 | CTNS | c.903C>T (p.Asn301=) c.150C>T (p.Asn50=) c.462C>T (p.Asn154=) n.2829C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659909G>A | CA287019866 | CTNS | c.904G>A (p.Val302Met) c.151G>A (p.Val51Met) c.463G>A (p.Val155Met) n.2830G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659909G>C | CA397693122 | CTNS | c.904G>C (p.Val302Leu) c.151G>C (p.Val51Leu) c.463G>C (p.Val155Leu) n.2830G>C | |
17 | g.3659909G= | CA2243978555 | CTNS | c.904G= (p.Val302=) c.151G= (p.Val51=) c.463G= (p.Val155=) n.2830G= | |
17 | g.3659909G>T | CA397693124 | CTNS | c.904G>T (p.Val302Leu) c.151G>T (p.Val51Leu) c.463G>T (p.Val155Leu) n.2830G>T | |
17 | g.3659910T>A | CA397693129 | CTNS | c.905T>A (p.Val302Glu) c.152T>A (p.Val51Glu) c.464T>A (p.Val155Glu) n.2831T>A | |
17 | g.3659910T>C | CA397693128 | CTNS | c.905T>C (p.Val302Ala) c.152T>C (p.Val51Ala) c.464T>C (p.Val155Ala) n.2831T>C | |
17 | g.3659910T>G | CA397693126 | CTNS | c.905T>G (p.Val302Gly) c.152T>G (p.Val51Gly) c.464T>G (p.Val155Gly) n.2831T>G | |
17 | g.3659911G>A | CA497466611 | CTNS | c.906G>A (p.Val302=) c.153G>A (p.Val51=) c.465G>A (p.Val155=) n.2832G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3659911G>C | CA497466613 | CTNS | c.906G>C (p.Val302=) c.153G>C (p.Val51=) c.465G>C (p.Val155=) n.2832G>C | gnomAD v4 |
17 | g.3659911G= | CA2243978559 | CTNS | c.906G= (p.Val302=) c.153G= (p.Val51=) c.465G= (p.Val155=) n.2832G= | |
17 | g.3659911G>T | CA497466610 | CTNS | c.906G>T (p.Val302=) c.153G>T (p.Val51=) c.465G>T (p.Val155=) n.2832G>T | |
17 | g.3659912C>A | CA397693131 | CTNS | c.907C>A (p.Leu303Ile) c.154C>A (p.Leu52Ile) c.466C>A (p.Leu156Ile) n.2833C>A | |
17 | g.3659912C>G | CA397693132 | CTNS | c.907C>G (p.Leu303Val) c.154C>G (p.Leu52Val) c.466C>G (p.Leu156Val) n.2833C>G | |
17 | g.3659912C>T | CA397693134 | CTNS | c.907C>T (p.Leu303Phe) c.154C>T (p.Leu52Phe) c.466C>T (p.Leu156Phe) n.2833C>T | ClinVar dbSNP gnomAD v4 |
17 | g.3659913T>A | CA397693135 | CTNS | c.908T>A (p.Leu303His) c.155T>A (p.Leu52His) c.467T>A (p.Leu156His) n.2834T>A | |
17 | g.3659913T>C | CA397693136 | CTNS | c.908T>C (p.Leu303Pro) c.155T>C (p.Leu52Pro) c.467T>C (p.Leu156Pro) n.2834T>C | |
17 | g.3659913T>G | CA397693138 | CTNS | c.908T>G (p.Leu303Arg) c.155T>G (p.Leu52Arg) c.467T>G (p.Leu156Arg) n.2834T>G | |
17 | g.3659914C>A | CA497466619 | CTNS | c.909C>A (p.Leu303=) c.156C>A (p.Leu52=) c.468C>A (p.Leu156=) n.2835C>A | |
17 | g.3659914C= | CA2243978560 | CTNS | c.909C= (p.Leu303=) c.156C= (p.Leu52=) c.468C= (p.Leu156=) n.2835C= | |
17 | g.3659914C>G | CA497466618 | CTNS | c.909C>G (p.Leu303=) c.156C>G (p.Leu52=) c.468C>G (p.Leu156=) n.2835C>G | |
17 | g.3659914C>T | CA497466616 | CTNS | c.909C>T (p.Leu303=) c.156C>T (p.Leu52=) c.468C>T (p.Leu156=) n.2835C>T | ClinVar dbSNP gnomAD v4 |
17 | g.3659915C>A | CA397693141 | CTNS | c.910C>A (p.Leu304Met) c.157C>A (p.Leu53Met) c.469C>A (p.Leu157Met) n.2836C>A | |
17 | g.3659915C>G | CA397693140 | CTNS | c.910C>G (p.Leu304Val) c.157C>G (p.Leu53Val) c.469C>G (p.Leu157Val) n.2836C>G | |
17 | g.3659915C>T | CA497466622 | CTNS | c.910C>T (p.Leu304=) c.157C>T (p.Leu53=) c.469C>T (p.Leu157=) n.2836C>T | |
17 | g.3659916T>A | CA397693143 | CTNS | c.911T>A (p.Leu304Gln) c.158T>A (p.Leu53Gln) c.470T>A (p.Leu157Gln) n.2837T>A | |
17 | g.3659916T>C | CA397693145 | CTNS | c.911T>C (p.Leu304Pro) c.158T>C (p.Leu53Pro) c.470T>C (p.Leu157Pro) n.2837T>C | ClinVar |
17 | g.3659916T>G | CA397693147 | CTNS | c.911T>G (p.Leu304Arg) c.158T>G (p.Leu53Arg) c.470T>G (p.Leu157Arg) n.2837T>G | |
17 | g.3659917G>A | CA497466627 | CTNS | c.912G>A (p.Leu304=) c.159G>A (p.Leu53=) c.471G>A (p.Leu157=) n.2838G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.3659917G>C | CA497466630 | CTNS | c.912G>C (p.Leu304=) c.159G>C (p.Leu53=) c.471G>C (p.Leu157=) n.2838G>C | |
17 | g.3659917G= | CA2243978561 | CTNS | c.912G= (p.Leu304=) c.159G= (p.Leu53=) c.471G= (p.Leu157=) n.2838G= | |
17 | g.3659917G>T | CA497466629 | CTNS | c.912G>T (p.Leu304=) c.159G>T (p.Leu53=) c.471G>T (p.Leu157=) n.2838G>T | |
17 | g.3659918G>A | CA397693149 | CTNS | c.913G>A (p.Asp305Asn) c.160G>A (p.Asp54Asn) c.472G>A (p.Asp158Asn) n.2839G>A | |
17 | g.3659918G>C | CA397693151 | CTNS | c.913G>C (p.Asp305His) c.160G>C (p.Asp54His) c.472G>C (p.Asp158His) n.2839G>C | |
17 | g.3659918G>T | CA397693154 | CTNS | c.913G>T (p.Asp305Tyr) c.160G>T (p.Asp54Tyr) c.472G>T (p.Asp158Tyr) n.2839G>T | |
17 | g.3659919A= | CA2243978563 | CTNS | c.914A= (p.Asp305=) c.161A= (p.Asp54=) c.473A= (p.Asp158=) n.2840A= | |
17 | g.3659919A>C | CA397693156 | CTNS | c.914A>C (p.Asp305Ala) c.161A>C (p.Asp54Ala) c.473A>C (p.Asp158Ala) n.2840A>C | |
17 | g.3659919A>G | CA397693160 | CTNS | c.914A>G (p.Asp305Gly) c.161A>G (p.Asp54Gly) c.473A>G (p.Asp158Gly) n.2840A>G | ClinVar dbSNP |
17 | g.3659919A>T | CA397693158 | CTNS | c.914A>T (p.Asp305Val) c.161A>T (p.Asp54Val) c.473A>T (p.Asp158Val) n.2840A>T | |
17 | g.3659920C>A | CA397693162 | CTNS | c.915C>A (p.Asp305Glu) c.162C>A (p.Asp54Glu) c.474C>A (p.Asp158Glu) n.2841C>A | |
17 | g.3659920C>G | CA397693164 | CTNS | c.915C>G (p.Asp305Glu) c.162C>G (p.Asp54Glu) c.474C>G (p.Asp158Glu) n.2841C>G | |
17 | g.3659920C>T | CA497466637 | CTNS | c.915C>T (p.Asp305=) c.162C>T (p.Asp54=) c.474C>T (p.Asp158=) n.2841C>T | |
17 | g.3659921T>A | CA397693165 | CTNS | c.916T>A (p.Phe306Ile) c.163T>A (p.Phe55Ile) c.475T>A (p.Phe159Ile) n.2842T>A | ClinVar |
17 | g.3659921T>C | CA287019871 | CTNS | c.916T>C (p.Phe306Leu) c.163T>C (p.Phe55Leu) c.475T>C (p.Phe159Leu) n.2842T>C | dbSNP gnomAD v4 |
17 | g.3659921T>G | CA397693168 | CTNS | c.916T>G (p.Phe306Val) c.163T>G (p.Phe55Val) c.475T>G (p.Phe159Val) n.2842T>G | |
17 | g.3659921T= | CA2243978566 | CTNS | c.916T= (p.Phe306=) c.163T= (p.Phe55=) c.475T= (p.Phe159=) n.2842T= | |
17 | g.3659922T>A | CA397693170 | CTNS | c.917T>A (p.Phe306Tyr) c.164T>A (p.Phe55Tyr) c.476T>A (p.Phe159Tyr) n.2843T>A | |
17 | g.3659922T>C | CA397693172 | CTNS | c.917T>C (p.Phe306Ser) c.164T>C (p.Phe55Ser) c.476T>C (p.Phe159Ser) n.2843T>C | |
17 | g.3659922T>G | CA397693173 | CTNS | c.917T>G (p.Phe306Cys) c.164T>G (p.Phe55Cys) c.476T>G (p.Phe159Cys) n.2843T>G | |
17 | g.3659923C>A | CA397693175 | CTNS | c.918C>A (p.Phe306Leu) c.165C>A (p.Phe55Leu) c.477C>A (p.Phe159Leu) n.2844C>A | |
17 | g.3659923C>G | CA397693179 | CTNS | c.918C>G (p.Phe306Leu) c.165C>G (p.Phe55Leu) c.477C>G (p.Phe159Leu) n.2844C>G | |
17 | g.3659923C>T | CA497466645 | CTNS | c.918C>T (p.Phe306=) c.165C>T (p.Phe55=) c.477C>T (p.Phe159=) n.2844C>T | ClinVar |
17 | g.3659924A>C | CA397693186 | CTNS | c.919A>C (p.Thr307Pro) c.166A>C (p.Thr56Pro) c.478A>C (p.Thr160Pro) n.2845A>C | |
17 | g.3659924A>G | CA397693184 | CTNS | c.919A>G (p.Thr307Ala) c.166A>G (p.Thr56Ala) c.478A>G (p.Thr160Ala) n.2845A>G | |
17 | g.3659924A>T | CA397693182 | CTNS | c.919A>T (p.Thr307Ser) c.166A>T (p.Thr56Ser) c.478A>T (p.Thr160Ser) n.2845A>T | |
17 | g.3659925C>A | CA397693188 | CTNS | c.920C>A (p.Thr307Asn) c.167C>A (p.Thr56Asn) c.479C>A (p.Thr160Asn) n.2846C>A | |
17 | g.3659925C>G | CA397693192 | CTNS | c.920C>G (p.Thr307Ser) c.167C>G (p.Thr56Ser) c.479C>G (p.Thr160Ser) n.2846C>G | |
17 | g.3659925C>T | CA397693190 | CTNS | c.920C>T (p.Thr307Ile) c.167C>T (p.Thr56Ile) c.479C>T (p.Thr160Ile) n.2846C>T | |
17 | g.3659926C>A | CA497466652 | CTNS | c.921C>A (p.Thr307=) c.168C>A (p.Thr56=) c.480C>A (p.Thr160=) n.2847C>A | |
17 | g.3659926C= | CA2243978570 | CTNS | c.921C= (p.Thr307=) c.168C= (p.Thr56=) c.480C= (p.Thr160=) n.2847C= | |
17 | g.3659926C>G | CA497466654 | CTNS | c.921C>G (p.Thr307=) c.168C>G (p.Thr56=) c.480C>G (p.Thr160=) n.2847C>G | |
17 | g.3659926C>T | CA8291954 | CTNS | c.921C>T (p.Thr307=) c.168C>T (p.Thr56=) c.480C>T (p.Thr160=) n.2847C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659927_3659932dup | CA2635424322 | CTNS | c.922_927dup (p.Gly309_Ser310insGlyGly) c.169_174dup (p.Gly58_Ser59insGlyGly) c.481_486dup (p.Gly162_Ser163insGlyGly) n.2848_2853dup | gnomAD v4 |
17 | g.3659927G>A | CA8291955 | CTNS | c.922G>A (p.Gly308Arg) c.169G>A (p.Gly57Arg) c.481G>A (p.Gly161Arg) n.2848G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659927G>C | CA397693194 | CTNS | c.922G>C (p.Gly308Arg) c.169G>C (p.Gly57Arg) c.481G>C (p.Gly161Arg) n.2848G>C | ClinVar dbSNP |
17 | g.3659927G= | CA2243978577 | CTNS | c.922G= (p.Gly308=) c.169G= (p.Gly57=) c.481G= (p.Gly161=) n.2848G= | |
17 | g.3659927G>T | CA397693198 | CTNS | c.922G>T (p.Gly308Trp) c.169G>T (p.Gly57Trp) c.481G>T (p.Gly161Trp) n.2848G>T | |
17 | g.3659931dup | CA278465 | CTNS | c.926dup (p.Ser310GlnfsTer?) c.173dup (p.Ser59GlnfsTer?) c.485dup (p.Ser163GlnfsTer?) n.2852dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659928G>A | CA397693200 | CTNS | c.923G>A (p.Gly308Glu) c.170G>A (p.Gly57Glu) c.482G>A (p.Gly161Glu) n.2849G>A | |
17 | g.3659928G>C | CA397693202 | CTNS | c.923G>C (p.Gly308Ala) c.170G>C (p.Gly57Ala) c.482G>C (p.Gly161Ala) n.2849G>C | dbSNP gnomAD v4 |
17 | g.3659928G= | CA2243978580 | CTNS | c.923G= (p.Gly308=) c.170G= (p.Gly57=) c.482G= (p.Gly161=) n.2849G= | |
17 | g.3659928G>T | CA287019887 | CTNS | c.923G>T (p.Gly308Val) c.170G>T (p.Gly57Val) c.482G>T (p.Gly161Val) n.2849G>T | ClinVar dbSNP gnomAD v4 |
17 | g.3659929G>A | CA497466661 | CTNS | c.924G>A (p.Gly308=) c.171G>A (p.Gly57=) c.483G>A (p.Gly161=) n.2850G>A | |
17 | g.3659929G>C | CA497466662 | CTNS | c.924G>C (p.Gly308=) c.171G>C (p.Gly57=) c.483G>C (p.Gly161=) n.2850G>C | |
17 | g.3659929G>T | CA497466664 | CTNS | c.924G>T (p.Gly308=) c.171G>T (p.Gly57=) c.483G>T (p.Gly161=) n.2850G>T | |
17 | g.3659930G>A | CA8291956 | CTNS | c.925G>A (p.Gly309Ser) c.172G>A (p.Gly58Ser) c.484G>A (p.Gly162Ser) n.2851G>A | dbSNP ExAC gnomAD v2 |
17 | g.3659930G>C | CA397693206 | CTNS | c.925G>C (p.Gly309Arg) c.172G>C (p.Gly58Arg) c.484G>C (p.Gly162Arg) n.2851G>C | |
17 | g.3659930G= | CA2243978583 | CTNS | c.925G= (p.Gly309=) c.172G= (p.Gly58=) c.484G= (p.Gly162=) n.2851G= | |
17 | g.3659930G>T | CA397693208 | CTNS | c.925G>T (p.Gly309Cys) c.172G>T (p.Gly58Cys) c.484G>T (p.Gly162Cys) n.2851G>T | |
17 | g.3659931G>A | CA397693210 | CTNS | c.926G>A (p.Gly309Asp) c.173G>A (p.Gly58Asp) c.485G>A (p.Gly162Asp) n.2852G>A | |
17 | g.3659931G>C | CA397693212 | CTNS | c.926G>C (p.Gly309Ala) c.173G>C (p.Gly58Ala) c.485G>C (p.Gly162Ala) n.2852G>C | |
17 | g.3659931G= | CA2243978585 | CTNS | c.926G= (p.Gly309=) c.173G= (p.Gly58=) c.485G= (p.Gly162=) n.2852G= | |
17 | g.3659931G>T | CA8291957 | CTNS | c.926G>T (p.Gly309Val) c.173G>T (p.Gly58Val) c.485G>T (p.Gly162Val) n.2852G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659932C>A | CA497466668 | CTNS | c.927C>A (p.Gly309=) c.174C>A (p.Gly58=) c.486C>A (p.Gly162=) n.2853C>A | |
17 | g.3659932C>G | CA497466672 | CTNS | c.927C>G (p.Gly309=) c.174C>G (p.Gly58=) c.486C>G (p.Gly162=) n.2853C>G | |
17 | g.3659932C>T | CA497466670 | CTNS | c.927C>T (p.Gly309=) c.174C>T (p.Gly58=) c.486C>T (p.Gly162=) n.2853C>T | |
17 | g.3659933A>C | CA397693215 | CTNS | c.928A>C (p.Ser310Arg) c.175A>C (p.Ser59Arg) c.487A>C (p.Ser163Arg) n.2854A>C | COSMIC COSMIC |
17 | g.3659933A>G | CA397693216 | CTNS | c.928A>G (p.Ser310Gly) c.175A>G (p.Ser59Gly) c.487A>G (p.Ser163Gly) n.2854A>G | |
17 | g.3659933A>T | CA397693218 | CTNS | c.928A>T (p.Ser310Cys) c.175A>T (p.Ser59Cys) c.487A>T (p.Ser163Cys) n.2854A>T | |
17 | g.3659934G>A | CA397693220 | CTNS | c.929G>A (p.Ser310Asn) c.176G>A (p.Ser59Asn) c.488G>A (p.Ser163Asn) n.2855G>A | |
17 | g.3659934G>C | CA397693224 | CTNS | c.929G>C (p.Ser310Thr) c.176G>C (p.Ser59Thr) c.488G>C (p.Ser163Thr) n.2855G>C | |
17 | g.3659934G>T | CA397693222 | CTNS | c.929G>T (p.Ser310Ile) c.176G>T (p.Ser59Ile) c.488G>T (p.Ser163Ile) n.2855G>T | |
17 | g.3659935C>A | CA397693225 | CTNS | c.930C>A (p.Ser310Arg) c.177C>A (p.Ser59Arg) c.489C>A (p.Ser163Arg) n.2856C>A | |
17 | g.3659935C= | CA2243978588 | CTNS | c.930C= (p.Ser310=) c.177C= (p.Ser59=) c.489C= (p.Ser163=) n.2856C= | |
17 | g.3659935C>G | CA397693227 | CTNS | c.930C>G (p.Ser310Arg) c.177C>G (p.Ser59Arg) c.489C>G (p.Ser163Arg) n.2856C>G | |
17 | g.3659935C>T | CA497466680 | CTNS | c.930C>T (p.Ser310=) c.177C>T (p.Ser59=) c.489C>T (p.Ser163=) n.2856C>T | ClinVar dbSNP |
17 | g.3659936T>A | CA397693229 | CTNS | c.931T>A (p.Phe311Ile) c.178T>A (p.Phe60Ile) c.490T>A (p.Phe164Ile) n.2857T>A | |
17 | g.3659936T>C | CA397693231 | CTNS | c.931T>C (p.Phe311Leu) c.178T>C (p.Phe60Leu) c.490T>C (p.Phe164Leu) n.2857T>C | |
17 | g.3659936T>G | CA397693233 | CTNS | c.931T>G (p.Phe311Val) c.178T>G (p.Phe60Val) c.490T>G (p.Phe164Val) n.2857T>G | |
17 | g.3659937T>A | CA397693234 | CTNS | c.932T>A (p.Phe311Tyr) c.179T>A (p.Phe60Tyr) c.491T>A (p.Phe164Tyr) n.2858T>A | |
17 | g.3659937T>C | CA397693236 | CTNS | c.932T>C (p.Phe311Ser) c.179T>C (p.Phe60Ser) c.491T>C (p.Phe164Ser) n.2858T>C | |
17 | g.3659937T>G | CA397693238 | CTNS | c.932T>G (p.Phe311Cys) c.179T>G (p.Phe60Cys) c.491T>G (p.Phe164Cys) n.2858T>G | |
17 | g.3659938C>A | CA397693240 | CTNS | c.933C>A (p.Phe311Leu) c.180C>A (p.Phe60Leu) c.492C>A (p.Phe164Leu) n.2859C>A | |
17 | g.3659938C>G | CA397693241 | CTNS | c.933C>G (p.Phe311Leu) c.180C>G (p.Phe60Leu) c.492C>G (p.Phe164Leu) n.2859C>G | |
17 | g.3659938C>T | CA497466687 | CTNS | c.933C>T (p.Phe311=) c.180C>T (p.Phe60=) c.492C>T (p.Phe164=) n.2859C>T | |
17 | g.3659941_3659950del | CA2580093570 | CTNS | c.936_945del (p.Ser312ArgfsTer14) c.183_192del (p.Ser61ArgfsTer14) c.495_504del (p.Ser165ArgfsTer14) n.2862_2871del | ClinVar |
17 | g.3659939A= | CA2243978589 | CTNS | c.934A= (p.Ser312=) c.181A= (p.Ser61=) c.493A= (p.Ser165=) n.2860A= | |
17 | g.3659939A>C | CA8291958 | CTNS | c.934A>C (p.Ser312Arg) c.181A>C (p.Ser61Arg) c.493A>C (p.Ser165Arg) n.2860A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659939A>G | CA397693246 | CTNS | c.934A>G (p.Ser312Gly) c.181A>G (p.Ser61Gly) c.493A>G (p.Ser165Gly) n.2860A>G | |
17 | g.3659939A>T | CA397693244 | CTNS | c.934A>T (p.Ser312Cys) c.181A>T (p.Ser61Cys) c.493A>T (p.Ser165Cys) n.2860A>T | |
17 | g.3659940G>A | CA397693247 | CTNS | c.935G>A (p.Ser312Asn) c.182G>A (p.Ser61Asn) c.494G>A (p.Ser165Asn) n.2861G>A | |
17 | g.3659940G>C | CA397693248 | CTNS | c.935G>C (p.Ser312Thr) c.182G>C (p.Ser61Thr) c.494G>C (p.Ser165Thr) n.2861G>C | |
17 | g.3659940G>T | CA397693249 | CTNS | c.935G>T (p.Ser312Ile) c.182G>T (p.Ser61Ile) c.494G>T (p.Ser165Ile) n.2861G>T | |
17 | g.3659941C>A | CA397693251 | CTNS | c.936C>A (p.Ser312Arg) c.183C>A (p.Ser61Arg) c.495C>A (p.Ser165Arg) n.2862C>A | |
17 | g.3659941C= | CA2243978591 | CTNS | c.936C= (p.Ser312=) c.183C= (p.Ser61=) c.495C= (p.Ser165=) n.2862C= | |
17 | g.3659941C>G | CA397693253 | CTNS | c.936C>G (p.Ser312Arg) c.183C>G (p.Ser61Arg) c.495C>G (p.Ser165Arg) n.2862C>G | |
17 | g.3659941C>T | CA497466688 | CTNS | c.936C>T (p.Ser312=) c.183C>T (p.Ser61=) c.495C>T (p.Ser165=) n.2862C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659942C>A | CA397693259 | CTNS | c.937C>A (p.Leu313Ile) c.184C>A (p.Leu62Ile) c.496C>A (p.Leu166Ile) n.2863C>A | |
17 | g.3659942C= | CA2243978593 | CTNS | c.937C= (p.Leu313=) c.184C= (p.Leu62=) c.496C= (p.Leu166=) n.2863C= | |
17 | g.3659942C>G | CA397693255 | CTNS | c.937C>G (p.Leu313Val) c.184C>G (p.Leu62Val) c.496C>G (p.Leu166Val) n.2863C>G | dbSNP |
17 | g.3659942C>T | CA397693257 | CTNS | c.937C>T (p.Leu313Phe) c.184C>T (p.Leu62Phe) c.496C>T (p.Leu166Phe) n.2863C>T | dbSNP gnomAD v4 |
17 | g.3659943T>A | CA8291959 | CTNS | c.938T>A (p.Leu313His) c.185T>A (p.Leu62His) c.497T>A (p.Leu166His) n.2864T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659943T>C | CA397693262 | CTNS | c.938T>C (p.Leu313Pro) c.185T>C (p.Leu62Pro) c.497T>C (p.Leu166Pro) n.2864T>C | |
17 | g.3659943T>G | CA397693263 | CTNS | c.938T>G (p.Leu313Arg) c.185T>G (p.Leu62Arg) c.497T>G (p.Leu166Arg) n.2864T>G | |
17 | g.3659943T= | CA2243978594 | CTNS | c.938T= (p.Leu313=) c.185T= (p.Leu62=) c.497T= (p.Leu166=) n.2864T= | |
17 | g.3659944C>A | CA497466689 | CTNS | c.939C>A (p.Leu313=) c.186C>A (p.Leu62=) c.498C>A (p.Leu166=) n.2865C>A | |
17 | g.3659944C>G | CA497466690 | CTNS | c.939C>G (p.Leu313=) c.186C>G (p.Leu62=) c.498C>G (p.Leu166=) n.2865C>G | |
17 | g.3659944C>T | CA497466691 | CTNS | c.939C>T (p.Leu313=) c.186C>T (p.Leu62=) c.498C>T (p.Leu166=) n.2865C>T | |
17 | g.3659945C>A | CA397693266 | CTNS | c.940C>A (p.Leu314Met) c.187C>A (p.Leu63Met) c.499C>A (p.Leu167Met) n.2866C>A | COSMIC |
17 | g.3659945C>G | CA397693268 | CTNS | c.940C>G (p.Leu314Val) c.187C>G (p.Leu63Val) c.499C>G (p.Leu167Val) n.2866C>G | |
17 | g.3659945C>T | CA497466693 | CTNS | c.940C>T (p.Leu314=) c.187C>T (p.Leu63=) c.499C>T (p.Leu167=) n.2866C>T | |
17 | g.3659946T>A | CA397693270 | CTNS | c.941T>A (p.Leu314Gln) c.188T>A (p.Leu63Gln) c.500T>A (p.Leu167Gln) n.2867T>A | |
17 | g.3659946T>C | CA8291960 | CTNS | c.941T>C (p.Leu314Pro) c.188T>C (p.Leu63Pro) c.500T>C (p.Leu167Pro) n.2867T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659946T>G | CA397693272 | CTNS | c.941T>G (p.Leu314Arg) c.188T>G (p.Leu63Arg) c.500T>G (p.Leu167Arg) n.2867T>G | |
17 | g.3659946T= | CA2243978596 | CTNS | c.941T= (p.Leu314=) c.188T= (p.Leu63=) c.500T= (p.Leu167=) n.2867T= | |
17 | g.3659947G>A | CA497466694 | CTNS | c.942G>A (p.Leu314=) c.189G>A (p.Leu63=) c.501G>A (p.Leu167=) n.2868G>A | gnomAD v4 |
17 | g.3659947G>C | CA497466695 | CTNS | c.942G>C (p.Leu314=) c.189G>C (p.Leu63=) c.501G>C (p.Leu167=) n.2868G>C | |
17 | g.3659947G= | CA2243978599 | CTNS | c.942G= (p.Leu314=) c.189G= (p.Leu63=) c.501G= (p.Leu167=) n.2868G= | |
17 | g.3659947G>T | CA497466696 | CTNS | c.942G>T (p.Leu314=) c.189G>T (p.Leu63=) c.501G>T (p.Leu167=) n.2868G>T | dbSNP gnomAD v2 |
17 | g.3659948C>A | CA397693275 | CTNS | c.943C>A (p.Gln315Lys) c.190C>A (p.Gln64Lys) c.502C>A (p.Gln168Lys) n.2869C>A | gnomAD v4 |
17 | g.3659948C= | CA2243978602 | CTNS | c.943C= (p.Gln315=) c.190C= (p.Gln64=) c.502C= (p.Gln168=) n.2869C= | |
17 | g.3659948C>G | CA397693277 | CTNS | c.943C>G (p.Gln315Glu) c.190C>G (p.Gln64Glu) c.502C>G (p.Gln168Glu) n.2869C>G | |
17 | g.3659948C>T | CA397693278 | CTNS | c.943C>T (p.Gln315Ter) c.190C>T (p.Gln64Ter) c.502C>T (p.Gln168Ter) n.2869C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.3659949A= | CA2243978605 | CTNS | c.944A= (p.Gln315=) c.191A= (p.Gln64=) c.503A= (p.Gln168=) n.2870A= | |
17 | g.3659949A>C | CA397693280 | CTNS | c.944A>C (p.Gln315Pro) c.191A>C (p.Gln64Pro) c.503A>C (p.Gln168Pro) n.2870A>C | |
17 | g.3659949A>G | CA16620398 | CTNS | c.944A>G (p.Gln315Arg) c.191A>G (p.Gln64Arg) c.503A>G (p.Gln168Arg) n.2870A>G | ClinVar dbSNP gnomAD v2 |
17 | g.3659949A>T | CA397693283 | CTNS | c.944A>T (p.Gln315Leu) c.191A>T (p.Gln64Leu) c.503A>T (p.Gln168Leu) n.2870A>T | |
17 | g.3659950G>A | CA497466697 | CTNS | c.945G>A (p.Gln315=) c.192G>A (p.Gln64=) c.504G>A (p.Gln168=) n.2871G>A | COSMIC COSMIC |
17 | g.3659950G>C | CA397693285 | CTNS | c.945G>C (p.Gln315His) c.192G>C (p.Gln64His) c.504G>C (p.Gln168His) n.2871G>C | gnomAD v4 |
17 | g.3659950G>T | CA397693287 | CTNS | c.945G>T (p.Gln315His) c.192G>T (p.Gln64His) c.504G>T (p.Gln168His) n.2871G>T | |
17 | g.3659951A= | CA2243978607 | CTNS | c.946A= (p.Met316=) c.193A= (p.Met65=) c.505A= (p.Met169=) | |
17 | g.3659951A>C | CA397693288 | CTNS | c.946A>C (p.Met316Leu) c.193A>C (p.Met65Leu) c.505A>C (p.Met169Leu) | |
17 | g.3659951A>G | CA397693289 | CTNS | c.946A>G (p.Met316Val) c.193A>G (p.Met65Val) c.505A>G (p.Met169Val) | dbSNP |
17 | g.3659951A>T | CA397693290 | CTNS | c.946A>T (p.Met316Leu) c.193A>T (p.Met65Leu) c.505A>T (p.Met169Leu) | |
17 | g.3659952T>A | CA8291961 | CTNS | c.947T>A (p.Met316Lys) c.194T>A (p.Met65Lys) c.506T>A (p.Met169Lys) | dbSNP ExAC gnomAD v2 |
17 | g.3659952T>C | CA397693295 | CTNS | c.947T>C (p.Met316Thr) c.194T>C (p.Met65Thr) c.506T>C (p.Met169Thr) | |
17 | g.3659952T>G | CA397693293 | CTNS | c.947T>G (p.Met316Arg) c.194T>G (p.Met65Arg) c.506T>G (p.Met169Arg) | |
17 | g.3659952T= | CA2243978609 | CTNS | c.947T= (p.Met316=) c.194T= (p.Met65=) c.506T= (p.Met169=) | |
17 | g.3659953G>A | CA287019913 | CTNS | c.948G>A (p.Met316Ile) c.195G>A (p.Met65Ile) c.507G>A (p.Met169Ile) | ClinVar dbSNP |
17 | g.3659953G>C | CA397693299 | CTNS | c.948G>C (p.Met316Ile) c.195G>C (p.Met65Ile) c.507G>C (p.Met169Ile) | |
17 | g.3659953G= | CA2243978610 | CTNS | c.948G= (p.Met316=) c.195G= (p.Met65=) c.507G= (p.Met169=) | |
17 | g.3659953G>T | CA397693300 | CTNS | c.948G>T (p.Met316Ile) c.195G>T (p.Met65Ile) c.507G>T (p.Met169Ile) | |
17 | g.3659954T>A | CA397693301 | CTNS | c.949T>A (p.Phe317Ile) c.196T>A (p.Phe66Ile) c.508T>A (p.Phe170Ile) | |
17 | g.3659954T>C | CA287019917 | CTNS | c.949T>C (p.Phe317Leu) c.196T>C (p.Phe66Leu) c.508T>C (p.Phe170Leu) | dbSNP |
17 | g.3659954T>G | CA397693302 | CTNS | c.949T>G (p.Phe317Val) c.196T>G (p.Phe66Val) c.508T>G (p.Phe170Val) | |
17 | g.3659954T= | CA2243978612 | CTNS | c.949T= (p.Phe317=) c.196T= (p.Phe66=) c.508T= (p.Phe170=) | |
17 | g.3659955T>A | CA397693309 | CTNS | c.950T>A (p.Phe317Tyr) c.197T>A (p.Phe66Tyr) c.509T>A (p.Phe170Tyr) | |
17 | g.3659955T>C | CA397693307 | CTNS | c.950T>C (p.Phe317Ser) c.197T>C (p.Phe66Ser) c.509T>C (p.Phe170Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.3659955T>G | CA397693305 | CTNS | c.950T>G (p.Phe317Cys) c.197T>G (p.Phe66Cys) c.509T>G (p.Phe170Cys) | |
17 | g.3659955T= | CA2243978614 | CTNS | c.950T= (p.Phe317=) c.197T= (p.Phe66=) c.509T= (p.Phe170=) | |
17 | g.3659956C>A | CA397693311 | CTNS | c.951C>A (p.Phe317Leu) c.198C>A (p.Phe66Leu) c.510C>A (p.Phe170Leu) | |
17 | g.3659956C= | CA2243978616 | CTNS | c.951C= (p.Phe317=) c.198C= (p.Phe66=) c.510C= (p.Phe170=) | |
17 | g.3659956C>G | CA397693313 | CTNS | c.951C>G (p.Phe317Leu) c.198C>G (p.Phe66Leu) c.510C>G (p.Phe170Leu) | |
17 | g.3659956C>T | CA8291962 | CTNS | c.951C>T (p.Phe317=) c.198C>T (p.Phe66=) c.510C>T (p.Phe170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659957C>A | CA397693316 | CTNS | c.952C>A (p.Leu318Ile) c.199C>A (p.Leu67Ile) c.511C>A (p.Leu171Ile) | |
17 | g.3659957C= | CA2243978619 | CTNS | c.952C= (p.Leu318=) c.199C= (p.Leu67=) c.511C= (p.Leu171=) | |
17 | g.3659957C>G | CA397693318 | CTNS | c.952C>G (p.Leu318Val) c.199C>G (p.Leu67Val) c.511C>G (p.Leu171Val) | |
17 | g.3659957C>T | CA8291963 | CTNS | c.952C>T (p.Leu318Phe) c.199C>T (p.Leu67Phe) c.511C>T (p.Leu171Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659958_3659959del | CA2576123922 | CTNS | c.953_954del (p.Leu318ProfsTer?) c.200_201del (p.Leu67ProfsTer?) c.512_513del (p.Leu171ProfsTer?) | |
17 | g.3659958T>A | CA397693320 | CTNS | c.953T>A (p.Leu318His) c.200T>A (p.Leu67His) c.512T>A (p.Leu171His) | |
17 | g.3659958T>C | CA397693324 | CTNS | c.953T>C (p.Leu318Pro) c.200T>C (p.Leu67Pro) c.512T>C (p.Leu171Pro) | |
17 | g.3659958T>G | CA397693323 | CTNS | c.953T>G (p.Leu318Arg) c.200T>G (p.Leu67Arg) c.512T>G (p.Leu171Arg) | |
17 | g.3659959C>A | CA497466698 | CTNS | c.954C>A (p.Leu318=) c.201C>A (p.Leu67=) c.513C>A (p.Leu171=) | |
17 | g.3659959C>G | CA497466700 | CTNS | c.954C>G (p.Leu318=) c.201C>G (p.Leu67=) c.513C>G (p.Leu171=) | gnomAD v4 |
17 | g.3659959C>T | CA497466699 | CTNS | c.954C>T (p.Leu318=) c.201C>T (p.Leu67=) c.513C>T (p.Leu171=) | ClinVar dbSNP gnomAD v4 |
17 | g.3659960C>A | CA397693327 | CTNS | c.955C>A (p.Gln319Lys) c.202C>A (p.Gln68Lys) c.514C>A (p.Gln172Lys) | |
17 | g.3659960C>G | CA397693328 | CTNS | c.955C>G (p.Gln319Glu) c.202C>G (p.Gln68Glu) c.514C>G (p.Gln172Glu) | |
17 | g.3659960C>T | CA397693330 | CTNS | c.955C>T (p.Gln319Ter) c.202C>T (p.Gln68Ter) c.514C>T (p.Gln172Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.3659961del | CA2837995014 | CTNS | c.956del (p.Gln319ArgfsTer10) c.203del (p.Gln68ArgfsTer10) c.515del (p.Gln172ArgfsTer10) | |
17 | g.3659961A>C | CA397693332 | CTNS | c.956A>C (p.Gln319Pro) c.203A>C (p.Gln68Pro) c.515A>C (p.Gln172Pro) | |
17 | g.3659961A>G | CA397693334 | CTNS | c.956A>G (p.Gln319Arg) c.203A>G (p.Gln68Arg) c.515A>G (p.Gln172Arg) | |
17 | g.3659961A>T | CA397693335 | CTNS | c.956A>T (p.Gln319Leu) c.203A>T (p.Gln68Leu) c.515A>T (p.Gln172Leu) | |
17 | g.3659962G>A | CA497466701 | CTNS | c.957G>A (p.Gln319=) c.204G>A (p.Gln68=) c.516G>A (p.Gln172=) | |
17 | g.3659962G>C | CA397693338 | CTNS | c.957G>C (p.Gln319His) c.204G>C (p.Gln68His) c.516G>C (p.Gln172His) | gnomAD v4 |
17 | g.3659962G>T | CA397693339 | CTNS | c.957G>T (p.Gln319His) c.204G>T (p.Gln68His) c.516G>T (p.Gln172His) | |
17 | g.3659963T>A | CA397693340 | CTNS | c.958T>A (p.Ser320Thr) c.205T>A (p.Ser69Thr) c.517T>A (p.Ser173Thr) | |
17 | g.3659963T>C | CA397693342 | CTNS | c.958T>C (p.Ser320Pro) c.205T>C (p.Ser69Pro) c.517T>C (p.Ser173Pro) | |
17 | g.3659963T>G | CA397693344 | CTNS | c.958T>G (p.Ser320Ala) c.205T>G (p.Ser69Ala) c.517T>G (p.Ser173Ala) | |
17 | g.3659964C>A | CA8291964 | CTNS | c.959C>A (p.Ser320Tyr) c.206C>A (p.Ser69Tyr) c.518C>A (p.Ser173Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659964C= | CA2243978623 | CTNS | c.959C= (p.Ser320=) c.206C= (p.Ser69=) c.518C= (p.Ser173=) | |
17 | g.3659964C>G | CA397693346 | CTNS | c.959C>G (p.Ser320Cys) c.206C>G (p.Ser69Cys) c.518C>G (p.Ser173Cys) | |
17 | g.3659964C>T | CA397693345 | CTNS | c.959C>T (p.Ser320Phe) c.206C>T (p.Ser69Phe) c.518C>T (p.Ser173Phe) | |
17 | g.3659965del | CA2695224167 | CTNS | c.960del (p.Tyr321ThrfsTer8) c.207del (p.Tyr70ThrfsTer8) c.519del (p.Tyr174ThrfsTer8) | |
17 | g.3659965C>A | CA497466702 | CTNS | c.960C>A (p.Ser320=) c.207C>A (p.Ser69=) c.519C>A (p.Ser173=) | |
17 | g.3659965C= | CA2243978625 | CTNS | c.960C= (p.Ser320=) c.207C= (p.Ser69=) c.519C= (p.Ser173=) | |
17 | g.3659965C>G | CA497466703 | CTNS | c.960C>G (p.Ser320=) c.207C>G (p.Ser69=) c.519C>G (p.Ser173=) | |
17 | g.3659965C>T | CA287019930 | CTNS | c.960C>T (p.Ser320=) c.207C>T (p.Ser69=) c.519C>T (p.Ser173=) | dbSNP |
17 | g.3659966T>A | CA397693349 | CTNS | c.961T>A (p.Tyr321Asn) c.208T>A (p.Tyr70Asn) c.520T>A (p.Tyr174Asn) | |
17 | g.3659966T>C | CA397693351 | CTNS | c.961T>C (p.Tyr321His) c.208T>C (p.Tyr70His) c.520T>C (p.Tyr174His) | |
17 | g.3659966T>G | CA397693353 | CTNS | c.961T>G (p.Tyr321Asp) c.208T>G (p.Tyr70Asp) c.520T>G (p.Tyr174Asp) | |
17 | g.3659966_3659969delinsTACA | CA2243978626 | CTNS | c.961_964delinsTACA (p.Tyr321=) c.208_211delinsTACA (p.Tyr70=) c.520_523delinsTACA (p.Tyr174=) | |
17 | g.3659967del | CA2576123923 | CTNS | c.962del (p.Tyr321SerfsTer8) c.209del (p.Tyr70SerfsTer8) c.521del (p.Tyr174SerfsTer8) | |
17 | g.3659967A= | CA2243978630 | CTNS | c.962A= (p.Tyr321=) c.209A= (p.Tyr70=) c.521A= (p.Tyr174=) | |
17 | g.3659967A>C | CA397693355 | CTNS | c.962A>C (p.Tyr321Ser) c.209A>C (p.Tyr70Ser) c.521A>C (p.Tyr174Ser) | |
17 | g.3659967A>G | CA397693357 | CTNS | c.962A>G (p.Tyr321Cys) c.209A>G (p.Tyr70Cys) c.521A>G (p.Tyr174Cys) | dbSNP gnomAD v4 |
17 | g.3659967A>T | CA397693359 | CTNS | c.962A>T (p.Tyr321Phe) c.209A>T (p.Tyr70Phe) c.521A>T (p.Tyr174Phe) | COSMIC COSMIC |
17 | g.3659972_3659974del | CA645576050 | CTNS | c.967_969del (p.Asn323del) c.214_216del (p.Asn72del) c.526_528del (p.Asn176del) | dbSNP gnomAD v4 COSMIC COSMIC |