Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
17 | g.3659968del | CA2695201210 | CTNS | c.963del (p.Tyr321Ter) c.210del (p.Tyr70Ter) c.522del (p.Tyr174Ter) | ClinVar |
17 | g.3659968C>A | CA397693361 | CTNS | c.963C>A (p.Tyr321Ter) c.210C>A (p.Tyr70Ter) c.522C>A (p.Tyr174Ter) | COSMIC COSMIC |
17 | g.3659968C>G | CA397693362 | CTNS | c.963C>G (p.Tyr321Ter) c.210C>G (p.Tyr70Ter) c.522C>G (p.Tyr174Ter) | |
17 | g.3659968C>T | CA497466704 | CTNS | c.963C>T (p.Tyr321=) c.210C>T (p.Tyr70=) c.522C>T (p.Tyr174=) | |
17 | g.3659969A= | CA2243978633 | CTNS | c.964A= (p.Asn322=) c.211A= (p.Asn71=) c.523A= (p.Asn175=) | |
17 | g.3659969A>C | CA397693365 | CTNS | c.964A>C (p.Asn322His) c.211A>C (p.Asn71His) c.523A>C (p.Asn175His) | |
17 | g.3659969A>G | CA397693366 | CTNS | c.964A>G (p.Asn322Asp) c.211A>G (p.Asn71Asp) c.523A>G (p.Asn175Asp) | gnomAD v4 |
17 | g.3659969A>T | CA397693368 | CTNS | c.964A>T (p.Asn322Tyr) c.211A>T (p.Asn71Tyr) c.523A>T (p.Asn175Tyr) | dbSNP |
17 | g.3659970A= | CA2243978636 | CTNS | c.965A= (p.Asn322=) c.212A= (p.Asn71=) c.524A= (p.Asn175=) | |
17 | g.3659970A>C | CA397693374 | CTNS | c.965A>C (p.Asn322Thr) c.212A>C (p.Asn71Thr) c.524A>C (p.Asn175Thr) | |
17 | g.3659970A>G | CA397693370 | CTNS | c.965A>G (p.Asn322Ser) c.212A>G (p.Asn71Ser) c.524A>G (p.Asn175Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659970A>T | CA397693372 | CTNS | c.965A>T (p.Asn322Ile) c.212A>T (p.Asn71Ile) c.524A>T (p.Asn175Ile) | |
17 | g.3659971C>A | CA397693376 | CTNS | c.966C>A (p.Asn322Lys) c.213C>A (p.Asn71Lys) c.525C>A (p.Asn175Lys) | |
17 | g.3659971C= | CA2243978639 | CTNS | c.966C= (p.Asn322=) c.213C= (p.Asn71=) c.525C= (p.Asn175=) | |
17 | g.3659971C>G | CA397693378 | CTNS | c.966C>G (p.Asn322Lys) c.213C>G (p.Asn71Lys) c.525C>G (p.Asn175Lys) | |
17 | g.3659971C>T | CA8291965 | CTNS | c.966C>T (p.Asn322=) c.213C>T (p.Asn71=) c.525C>T (p.Asn175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659972A>C | CA397693382 | CTNS | c.967A>C (p.Asn323His) c.214A>C (p.Asn72His) c.526A>C (p.Asn176His) | |
17 | g.3659972A>G | CA397693383 | CTNS | c.967A>G (p.Asn323Asp) c.214A>G (p.Asn72Asp) c.526A>G (p.Asn176Asp) | |
17 | g.3659972A>T | CA397693385 | CTNS | c.967A>T (p.Asn323Tyr) c.214A>T (p.Asn72Tyr) c.526A>T (p.Asn176Tyr) | |
17 | g.3659973del | CA2635424323 | CTNS | c.968del (p.Asn323ThrfsTer6) c.215del (p.Asn72ThrfsTer6) c.527del (p.Asn176ThrfsTer6) | gnomAD v4 |
17 | g.3659972_3659975dup | CA2243978644 | CTNS | c.967_970dup (p.Asp324GlufsTer?) c.214_217dup (p.Asp73GlufsTer?) c.526_529dup (p.Asp177GlufsTer?) | dbSNP |
17 | g.3659973A>C | CA397693388 | CTNS | c.968A>C (p.Asn323Thr) c.215A>C (p.Asn72Thr) c.527A>C (p.Asn176Thr) | gnomAD v4 |
17 | g.3659973A>G | CA397693389 | CTNS | c.968A>G (p.Asn323Ser) c.215A>G (p.Asn72Ser) c.527A>G (p.Asn176Ser) | |
17 | g.3659973A>T | CA397693390 | CTNS | c.968A>T (p.Asn323Ile) c.215A>T (p.Asn72Ile) c.527A>T (p.Asn176Ile) | |
17 | g.3659974C>A | CA397693392 | CTNS | c.969C>A (p.Asn323Lys) c.216C>A (p.Asn72Lys) c.528C>A (p.Asn176Lys) | COSMIC COSMIC |
17 | g.3659974C= | CA2243978648 | CTNS | c.969C= (p.Asn323=) c.216C= (p.Asn72=) c.528C= (p.Asn176=) | |
17 | g.3659974C>G | CA253164 | CTNS | c.969C>G (p.Asn323Lys) c.216C>G (p.Asn72Lys) c.528C>G (p.Asn176Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659974C>T | CA8291966 | CTNS | c.969C>T (p.Asn323=) c.216C>T (p.Asn72=) c.528C>T (p.Asn176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659975G>A | CA8291967 | CTNS | c.970G>A (p.Asp324Asn) c.217G>A (p.Asp73Asn) c.529G>A (p.Asp177Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659975G>C | CA397693398 | CTNS | c.970G>C (p.Asp324His) c.217G>C (p.Asp73His) c.529G>C (p.Asp177His) | |
17 | g.3659975G= | CA2243978655 | CTNS | c.970G= (p.Asp324=) c.217G= (p.Asp73=) c.529G= (p.Asp177=) | |
17 | g.3659975G>T | CA397693395 | CTNS | c.970G>T (p.Asp324Tyr) c.217G>T (p.Asp73Tyr) c.529G>T (p.Asp177Tyr) | |
17 | g.3659976G>A | CA397693402 | CTNS | c.970+1G>A (n.970+1G>A) c.217+1G>A (n.217+1G>A) c.529+1G>A (n.529+1G>A) | |
17 | g.3659976G>C | CA397693400 | CTNS | c.970+1G>C (n.970+1G>C) c.217+1G>C (n.217+1G>C) c.529+1G>C (n.529+1G>C) | |
17 | g.3659976G>T | CA397693404 | CTNS | c.970+1G>T (n.970+1G>T) c.217+1G>T (n.217+1G>T) c.529+1G>T (n.529+1G>T) | |
17 | g.3659977T>A | CA397693406 | CTNS | c.970+2T>A (n.970+2T>A) c.217+2T>A (n.217+2T>A) c.529+2T>A (n.529+2T>A) | |
17 | g.3659977T>C | CA397693408 | CTNS | c.970+2T>C (n.970+2T>C) c.217+2T>C (n.217+2T>C) c.529+2T>C (n.529+2T>C) | |
17 | g.3659977T>G | CA397693409 | CTNS | c.970+2T>G (n.970+2T>G) c.217+2T>G (n.217+2T>G) c.529+2T>G (n.529+2T>G) | |
17 | g.3659978G>A | CA2580612853 | CTNS | c.970+3G>A (n.970+3G>A) c.217+3G>A (n.217+3G>A) c.529+3G>A (n.529+3G>A) | ClinVar |
17 | g.3659978G>C | CA2635424324 | CTNS | c.970+3G>C (n.970+3G>C) c.217+3G>C (n.217+3G>C) c.529+3G>C (n.529+3G>C) | gnomAD v4 |
17 | g.3659980G>A | CA8291968 | CTNS | c.970+5G>A (n.970+5G>A) c.217+5G>A (n.217+5G>A) c.529+5G>A (n.529+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659980G= | CA2243978660 | CTNS | c.970+5G= (n.970+5G=) c.217+5G= (n.217+5G=) c.529+5G= (n.529+5G=) | |
17 | g.3659981T= | CA2243978662 | CTNS | c.970+6T= (n.970+6T=) c.217+6T= (n.217+6T=) c.529+6T= (n.529+6T=) | |
17 | g.3659981_3660048delinsTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTC | CA2243978663 | CTNS | c.970+6_970+73delinsTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTC (n.970+6_970+73delinsTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTC) c.217+6_217+73delinsTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTC (n.217+6_217+73delinsTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTC) c.529+6_529+73delinsTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTC (n.529+6_529+73delinsTCAGCCAGCGGGCTGCTGGCCACCCTGCGGCTGGGGCATCGGGCGGGGCCAGCCTTCCCGGGACCTTC) | |
17 | g.3659982C>A | CA2576123924 | CTNS | c.970+7C>A (n.970+7C>A) c.217+7C>A (n.217+7C>A) c.529+7C>A (n.529+7C>A) | gnomAD v4 |
17 | g.3659982dup | CA8291969 | CTNS | c.970+7dup (n.970+7dup) c.217+7dup (n.217+7dup) c.529+7dup (n.529+7dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659989_3660055del | CA624541838 | CTNS | c.970+14_970+80del (n.970+14_970+80del) c.217+14_217+80del (n.217+14_217+80del) c.529+14_529+80del (n.529+14_529+80del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3659983A>T | CA2576123925 | CTNS | c.970+8A>T (n.970+8A>T) c.217+8A>T (n.217+8A>T) c.529+8A>T (n.529+8A>T) | |
17 | g.3659984G>A | CA2499224298 | CTNS | c.970+9G>A (n.970+9G>A) c.217+9G>A (n.217+9G>A) c.529+9G>A (n.529+9G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.3659984G= | CA2243978667 | CTNS | c.970+9G= (n.970+9G=) c.217+9G= (n.217+9G=) c.529+9G= (n.529+9G=) | |
17 | g.3659984G>T | CA728450793 | CTNS | c.970+9G>T (n.970+9G>T) c.217+9G>T (n.217+9G>T) c.529+9G>T (n.529+9G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.3659985C>A | CA2635424325 | CTNS | c.970+10C>A (n.970+10C>A) c.217+10C>A (n.217+10C>A) c.529+10C>A (n.529+10C>A) | gnomAD v4 |
17 | g.3659985C>G | CA2635424326 | CTNS | c.970+10C>G (n.970+10C>G) c.217+10C>G (n.217+10C>G) c.529+10C>G (n.529+10C>G) | gnomAD v4 |
17 | g.3659985C>T | CA2576123927 | CTNS | c.970+10C>T (n.970+10C>T) c.217+10C>T (n.217+10C>T) c.529+10C>T (n.529+10C>T) | ClinVar |
17 | g.3659986del | CA2576123926 | CTNS | c.970+11del (n.970+11del) c.217+11del (n.217+11del) c.529+11del (n.529+11del) |