Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.3659987A>C | CA2576123928 | CTNS | c.970+12A>C (n.970+12A>C) c.217+12A>C (n.217+12A>C) c.529+12A>C (n.529+12A>C) | |
17 | g.3659987A>T | CA2576123929 | CTNS | c.970+12A>T (n.970+12A>T) c.217+12A>T (n.217+12A>T) c.529+12A>T (n.529+12A>T) | |
17 | g.3659988G>C | CA2808251527 | CTNS | c.970+13G>C (n.970+13G>C) c.217+13G>C (n.217+13G>C) c.529+13G>C (n.529+13G>C) | |
17 | g.3659990_3659996del | CA2576123930 | CTNS | c.970+15_970+21del (n.970+15_970+21del) c.217+15_217+21del (n.217+15_217+21del) c.529+15_529+21del (n.529+15_529+21del) | ClinVar |
17 | g.3659992_3660010dup | CA2635424327 | CTNS | c.970+17_970+35dup (n.970+17_970+35dup) c.217+17_217+35dup (n.217+17_217+35dup) c.529+17_529+35dup (n.529+17_529+35dup) | gnomAD v4 |
17 | g.3659989C>A | CA8291970 | CTNS | c.970+14C>A (n.970+14C>A) c.217+14C>A (n.217+14C>A) c.529+14C>A (n.529+14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.3659989C= | CA2243978668 | CTNS | c.970+14C= (n.970+14C=) c.217+14C= (n.217+14C=) c.529+14C= (n.529+14C=) | |
17 | g.3659989C>T | CA287019952 | CTNS | c.970+14C>T (n.970+14C>T) c.217+14C>T (n.217+14C>T) c.529+14C>T (n.529+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659990G>A | CA8291971 | CTNS | c.970+15G>A (n.970+15G>A) c.217+15G>A (n.217+15G>A) c.529+15G>A (n.529+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3659990G>C | CA8291972 | CTNS | c.970+15G>C (n.970+15G>C) c.217+15G>C (n.217+15G>C) c.529+15G>C (n.529+15G>C) | dbSNP ExAC gnomAD v4 |
17 | g.3659990G= | CA2243978673 | CTNS | c.970+15G= (n.970+15G=) c.217+15G= (n.217+15G=) c.529+15G= (n.529+15G=) | |
17 | g.3659990G>T | CA624541839 | CTNS | c.970+15G>T (n.970+15G>T) c.217+15G>T (n.217+15G>T) c.529+15G>T (n.529+15G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3659992dup | CA2243978672 | CTNS | c.970+17dup (n.970+17dup) c.217+17dup (n.217+17dup) c.529+17dup (n.529+17dup) | dbSNP |
17 | g.3659991G>C | CA2243978676 | CTNS | c.970+16G>C (n.970+16G>C) c.217+16G>C (n.217+16G>C) c.529+16G>C (n.529+16G>C) | dbSNP |
17 | g.3659991G= | CA2243978675 | CTNS | c.970+16G= (n.970+16G=) c.217+16G= (n.217+16G=) c.529+16G= (n.529+16G=) | |
17 | g.3659992G>A | CA2576123931 | CTNS | c.970+17G>A (n.970+17G>A) c.217+17G>A (n.217+17G>A) c.529+17G>A (n.529+17G>A) | |
17 | g.3659992G>C | CA2576123932 | CTNS | c.970+17G>C (n.970+17G>C) c.217+17G>C (n.217+17G>C) c.529+17G>C (n.529+17G>C) | gnomAD v4 |
17 | g.3659993C>A | CA2567537166 | CTNS | c.970+18C>A (n.970+18C>A) c.217+18C>A (n.217+18C>A) c.529+18C>A (n.529+18C>A) | |
17 | g.3659993C= | CA2243978677 | CTNS | c.970+18C= (n.970+18C=) c.217+18C= (n.217+18C=) c.529+18C= (n.529+18C=) | |
17 | g.3659993C>T | CA2243978678 | CTNS | c.970+18C>T (n.970+18C>T) c.217+18C>T (n.217+18C>T) c.529+18C>T (n.529+18C>T) | dbSNP gnomAD v4 |
17 | g.3659994T>C | CA2576123933 | CTNS | c.970+19T>C (n.970+19T>C) c.217+19T>C (n.217+19T>C) c.529+19T>C (n.529+19T>C) | gnomAD v4 |
17 | g.3659995G>A | CA2635424328 | CTNS | c.970+20G>A (n.970+20G>A) c.217+20G>A (n.217+20G>A) c.529+20G>A (n.529+20G>A) | gnomAD v4 |
17 | g.3659995G>C | CA2635424329 | CTNS | c.970+20G>C (n.970+20G>C) c.217+20G>C (n.217+20G>C) c.529+20G>C (n.529+20G>C) | gnomAD v4 |
17 | g.3659996C>T | CA2635424330 | CTNS | c.970+21C>T (n.970+21C>T) c.217+21C>T (n.217+21C>T) c.529+21C>T (n.529+21C>T) | gnomAD v4 |
17 | g.3659998G= | CA2243978679 | CTNS | c.970+23G= (n.970+23G=) c.217+23G= (n.217+23G=) c.529+23G= (n.529+23G=) | |
17 | g.3659999G>A | CA2576123934 | CTNS | c.970+24G>A (n.970+24G>A) c.217+24G>A (n.217+24G>A) c.529+24G>A (n.529+24G>A) | |
17 | g.3660001_3660008dup | CA287019956 | CTNS | c.970+26_970+33dup (n.970+26_970+33dup) c.217+26_217+33dup (n.217+26_217+33dup) c.529+26_529+33dup (n.529+26_529+33dup) | dbSNP |
17 | g.3660000C>A | CA2576123935 | CTNS | c.970+25C>A (n.970+25C>A) c.217+25C>A (n.217+25C>A) c.529+25C>A (n.529+25C>A) | gnomAD v4 |
17 | g.3660001_3660005del | CA2635424331 | CTNS | c.970+26_970+30del (n.970+26_970+30del) c.217+26_217+30del (n.217+26_217+30del) c.529+26_529+30del (n.529+26_529+30del) | gnomAD v4 |
17 | g.3660000_3660001insTGA | CA2635424332 | CTNS | c.970+25_970+26insTGA (n.970+25_970+26insTGA) c.217+25_217+26insTGA (n.217+25_217+26insTGA) c.529+25_529+26insTGA (n.529+25_529+26insTGA) | gnomAD v4 |
17 | g.3660001C>A | CA2635424333 | CTNS | c.970+26C>A (n.970+26C>A) c.217+26C>A (n.217+26C>A) c.529+26C>A (n.529+26C>A) | gnomAD v4 |
17 | g.3660002A= | CA2243978680 | CTNS | c.970+27A= (n.970+27A=) c.217+27A= (n.217+27A=) c.529+27A= (n.529+27A=) | |
17 | g.3660002A>C | CA2243978681 | CTNS | c.970+27A>C (n.970+27A>C) c.217+27A>C (n.217+27A>C) c.529+27A>C (n.529+27A>C) | dbSNP |
17 | g.3660003C= | CA2243978684 | CTNS | c.970+28C= (n.970+28C=) c.217+28C= (n.217+28C=) c.529+28C= (n.529+28C=) | |
17 | g.3660003_3660004insT | CA624541840 | CTNS | c.970+28_970+29insT (n.970+28_970+29insT) c.217+28_217+29insT (n.217+28_217+29insT) c.529+28_529+29insT (n.529+28_529+29insT) | dbSNP gnomAD v2 |
17 | g.3660004C>A | CA8291973 | CTNS | c.970+29C>A (n.970+29C>A) c.217+29C>A (n.217+29C>A) c.529+29C>A (n.529+29C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660004C= | CA2243978686 | CTNS | c.970+29C= (n.970+29C=) c.217+29C= (n.217+29C=) c.529+29C= (n.529+29C=) | |
17 | g.3660004C>G | CA2635424334 | CTNS | c.970+29C>G (n.970+29C>G) c.217+29C>G (n.217+29C>G) c.529+29C>G (n.529+29C>G) | gnomAD v4 |
17 | g.3660004C>T | CA2635424335 | CTNS | c.970+29C>T (n.970+29C>T) c.217+29C>T (n.217+29C>T) c.529+29C>T (n.529+29C>T) | gnomAD v4 |
17 | g.3660005C>A | CA2635424337 | CTNS | c.970+30C>A (n.970+30C>A) c.217+30C>A (n.217+30C>A) c.529+30C>A (n.529+30C>A) | gnomAD v4 |
17 | g.3660005C>G | CA2635424336 | CTNS | c.970+30C>G (n.970+30C>G) c.217+30C>G (n.217+30C>G) c.529+30C>G (n.529+30C>G) | gnomAD v4 |
17 | g.3660006T>C | CA8291974 | CTNS | c.970+31T>C (n.970+31T>C) c.217+31T>C (n.217+31T>C) c.529+31T>C (n.529+31T>C) | dbSNP ExAC gnomAD v4 |
17 | g.3660006T>G | CA2635424338 | CTNS | c.970+31T>G (n.970+31T>G) c.217+31T>G (n.217+31T>G) c.529+31T>G (n.529+31T>G) | gnomAD v4 |
17 | g.3660006T= | CA2243978688 | CTNS | c.970+31T= (n.970+31T=) c.217+31T= (n.217+31T=) c.529+31T= (n.529+31T=) | |
17 | g.3660007G>A | CA2635424339 | CTNS | c.970+32G>A (n.970+32G>A) c.217+32G>A (n.217+32G>A) c.529+32G>A (n.529+32G>A) | gnomAD v4 |
17 | g.3660007G>C | CA624541841 | CTNS | c.970+32G>C (n.970+32G>C) c.217+32G>C (n.217+32G>C) c.529+32G>C (n.529+32G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660007G= | CA2243978690 | CTNS | c.970+32G= (n.970+32G=) c.217+32G= (n.217+32G=) c.529+32G= (n.529+32G=) | |
17 | g.3660008C>A | CA2635424340 | CTNS | c.970+33C>A (n.970+33C>A) c.217+33C>A (n.217+33C>A) c.529+33C>A (n.529+33C>A) | gnomAD v4 |
17 | g.3660008C= | CA2243978693 | CTNS | c.970+33C= (n.970+33C=) c.217+33C= (n.217+33C=) c.529+33C= (n.529+33C=) | |
17 | g.3660008C>T | CA8291975 | CTNS | c.970+33C>T (n.970+33C>T) c.217+33C>T (n.217+33C>T) c.529+33C>T (n.529+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660009G>A | CA8291976 | CTNS | c.970+34G>A (n.970+34G>A) c.217+34G>A (n.217+34G>A) c.529+34G>A (n.529+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660009G>C | CA2243978696 | CTNS | c.970+34G>C (n.970+34G>C) c.217+34G>C (n.217+34G>C) c.529+34G>C (n.529+34G>C) | dbSNP gnomAD v4 |
17 | g.3660009G= | CA2243978695 | CTNS | c.970+34G= (n.970+34G=) c.217+34G= (n.217+34G=) c.529+34G= (n.529+34G=) | |
17 | g.3660010G>A | CA2576123936 | CTNS | c.970+35G>A (n.970+35G>A) c.217+35G>A (n.217+35G>A) c.529+35G>A (n.529+35G>A) | gnomAD v4 |
17 | g.3660011C>A | CA2635424341 | CTNS | c.970+36C>A (n.970+36C>A) c.217+36C>A (n.217+36C>A) c.529+36C>A (n.529+36C>A) | gnomAD v4 |
17 | g.3660011C= | CA2243978698 | CTNS | c.970+36C= (n.970+36C=) c.217+36C= (n.217+36C=) c.529+36C= (n.529+36C=) | |
17 | g.3660011C>T | CA8291977 | CTNS | c.970+36C>T (n.970+36C>T) c.217+36C>T (n.217+36C>T) c.529+36C>T (n.529+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660012T>C | CA287019969 | CTNS | c.970+37T>C (n.970+37T>C) c.217+37T>C (n.217+37T>C) c.529+37T>C (n.529+37T>C) | dbSNP |
17 | g.3660012T= | CA2243978699 | CTNS | c.970+37T= (n.970+37T=) c.217+37T= (n.217+37T=) c.529+37T= (n.529+37T=) | |
17 | g.3660013G>A | CA2635424342 | CTNS | c.970+38G>A (n.970+38G>A) c.217+38G>A (n.217+38G>A) c.529+38G>A (n.529+38G>A) | gnomAD v4 |
17 | g.3660013G>T | CA2635424343 | CTNS | c.970+38G>T (n.970+38G>T) c.217+38G>T (n.217+38G>T) c.529+38G>T (n.529+38G>T) | gnomAD v4 |
17 | g.3660014G>A | CA2576123937 | CTNS | c.970+39G>A (n.970+39G>A) c.217+39G>A (n.217+39G>A) c.529+39G>A (n.529+39G>A) | |
17 | g.3660014G>C | CA8291978 | CTNS | c.970+39G>C (n.970+39G>C) c.217+39G>C (n.217+39G>C) c.529+39G>C (n.529+39G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.3660014G= | CA2243978702 | CTNS | c.970+39G= (n.970+39G=) c.217+39G= (n.217+39G=) c.529+39G= (n.529+39G=) | |
17 | g.3660014G>T | CA2635424344 | CTNS | c.970+39G>T (n.970+39G>T) c.217+39G>T (n.217+39G>T) c.529+39G>T (n.529+39G>T) | gnomAD v4 |
17 | g.3660014_3660015insCCCCGCCCGATGCCCCAGCC | CA2635424346 | CTNS | c.970+39_970+40insCCCCGCCCGATGCCCCAGCC (n.970+39_970+40insCCCCGCCCGATGCCCCAGCC) c.217+39_217+40insCCCCGCCCGATGCCCCAGCC (n.217+39_217+40insCCCCGCCCGATGCCCCAGCC) c.529+39_529+40insCCCCGCCCGATGCCCCAGCC (n.529+39_529+40insCCCCGCCCGATGCCCCAGCC) | gnomAD v4 |
17 | g.3660015G>A | CA728450828 | CTNS | c.970+40G>A (n.970+40G>A) c.217+40G>A (n.217+40G>A) c.529+40G>A (n.529+40G>A) | dbSNP gnomAD v4 |
17 | g.3660015G= | CA2243978704 | CTNS | c.970+40G= (n.970+40G=) c.217+40G= (n.217+40G=) c.529+40G= (n.529+40G=) | |
17 | g.3660015G>T | CA2635424345 | CTNS | c.970+40G>T (n.970+40G>T) c.217+40G>T (n.217+40G>T) c.529+40G>T (n.529+40G>T) | gnomAD v4 |
17 | g.3660016G>A | CA624541842 | CTNS | c.970+41G>A (n.970+41G>A) c.217+41G>A (n.217+41G>A) c.529+41G>A (n.529+41G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.3660016G= | CA2243978705 | CTNS | c.970+41G= (n.970+41G=) c.217+41G= (n.217+41G=) c.529+41G= (n.529+41G=) | |
17 | g.3660016G>T | CA8291979 | CTNS | c.970+41G>T (n.970+41G>T) c.217+41G>T (n.217+41G>T) c.529+41G>T (n.529+41G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |