Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.54937811_54942169dup | CA407860473 | NLRP7 | c.-39-386_2129+266dup c.-39-386_2045+266dup c.46-386_2213+266dup n.480-386_2647+266dup | ClinVar |
19 | g.54938054G>A | CA407860505 | NCR1,NLRP7 | c.2119C>T (p.Gln707Ter) c.2035C>T (p.Gln679Ter) c.2203C>T (p.Gln735Ter) c.683-82G>A (n.683-82G>A) n.2637C>T | |
19 | g.54938054G>C | CA407860506 | NCR1,NLRP7 | c.2119C>G (p.Gln707Glu) c.2035C>G (p.Gln679Glu) c.2203C>G (p.Gln735Glu) c.683-82G>C (n.683-82G>C) n.2637C>G | |
19 | g.54938054G>T | CA407860507 | NCR1,NLRP7 | c.2119C>A (p.Gln707Lys) c.2035C>A (p.Gln679Lys) c.2203C>A (p.Gln735Lys) c.683-82G>T (n.683-82G>T) n.2637C>A | |
19 | g.54938056A>C | CA407860510 | NCR1,NLRP7 | c.2117T>G (p.Leu706Arg) c.2033T>G (p.Leu678Arg) c.2201T>G (p.Leu734Arg) c.683-80A>C (n.683-80A>C) n.2635T>G | |
19 | g.54938056A>G | CA407860509 | NCR1,NLRP7 | c.2117T>C (p.Leu706Pro) c.2033T>C (p.Leu678Pro) c.2201T>C (p.Leu734Pro) c.683-80A>G (n.683-80A>G) n.2635T>C | gnomAD v4 |
19 | g.54938056A>T | CA407860508 | NCR1,NLRP7 | c.2117T>A (p.Leu706Gln) c.2033T>A (p.Leu678Gln) c.2201T>A (p.Leu734Gln) c.683-80A>T (n.683-80A>T) n.2635T>A | |
19 | g.54938057G>A | CA645620163 | NCR1,NLRP7 | c.2116C>T (p.Leu706=) c.2032C>T (p.Leu678=) c.2200C>T (p.Leu734=) c.683-79G>A (n.683-79G>A) n.2634C>T | COSMIC COSMIC COSMIC |
19 | g.54938057G>C | CA407860511 | NCR1,NLRP7 | c.2116C>G (p.Leu706Val) c.2032C>G (p.Leu678Val) c.2200C>G (p.Leu734Val) c.683-79G>C (n.683-79G>C) n.2634C>G | |
19 | g.54938057G= | CA2343150144 | NCR1,NLRP7 | c.2116C= (p.Leu706=) c.2032C= (p.Leu678=) c.2200C= (p.Leu734=) c.683-79G= (n.683-79G=) n.2634C= | |
19 | g.54938057G>T | CA407860512 | NCR1,NLRP7 | c.2116C>A (p.Leu706Met) c.2032C>A (p.Leu678Met) c.2200C>A (p.Leu734Met) c.683-79G>T (n.683-79G>T) n.2634C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938058A= | CA2343150145 | NCR1,NLRP7 | c.2115T= (p.His705=) c.2031T= (p.His677=) c.2199T= (p.His733=) c.683-78A= (n.683-78A=) n.2633T= | |
19 | g.54938058A>C | CA407860513 | NCR1,NLRP7 | c.2115T>G (p.His705Gln) c.2031T>G (p.His677Gln) c.2199T>G (p.His733Gln) c.683-78A>C (n.683-78A>C) n.2633T>G | |
19 | g.54938058A>G | CA883690127 | NCR1,NLRP7 | c.2115T>C (p.His705=) c.2031T>C (p.His677=) c.2199T>C (p.His733=) c.683-78A>G (n.683-78A>G) n.2633T>C | dbSNP gnomAD v4 |
19 | g.54938058A>T | CA407860514 | NCR1,NLRP7 | c.2115T>A (p.His705Gln) c.2031T>A (p.His677Gln) c.2199T>A (p.His733Gln) c.683-78A>T (n.683-78A>T) n.2633T>A | |
19 | g.54938059T>A | CA407860515 | NCR1,NLRP7 | c.2114A>T (p.His705Leu) c.2030A>T (p.His677Leu) c.2198A>T (p.His733Leu) c.683-77T>A (n.683-77T>A) n.2632A>T | |
19 | g.54938059T>C | CA407860516 | NCR1,NLRP7 | c.2114A>G (p.His705Arg) c.2030A>G (p.His677Arg) c.2198A>G (p.His733Arg) c.683-77T>C (n.683-77T>C) n.2632A>G | dbSNP gnomAD v4 |
19 | g.54938059T>G | CA407860517 | NCR1,NLRP7 | c.2114A>C (p.His705Pro) c.2030A>C (p.His677Pro) c.2198A>C (p.His733Pro) c.683-77T>G (n.683-77T>G) n.2632A>C | gnomAD v4 |
19 | g.54938059T= | CA2343150146 | NCR1,NLRP7 | c.2114A= (p.His705=) c.2030A= (p.His677=) c.2198A= (p.His733=) c.683-77T= (n.683-77T=) n.2632A= | |
19 | g.54938060G>A | CA407860518 | NCR1,NLRP7 | c.2113C>T (p.His705Tyr) c.2029C>T (p.His677Tyr) c.2197C>T (p.His733Tyr) c.683-76G>A (n.683-76G>A) n.2631C>T | gnomAD v4 |
19 | g.54938060G>C | CA407860519 | NCR1,NLRP7 | c.2113C>G (p.His705Asp) c.2029C>G (p.His677Asp) c.2197C>G (p.His733Asp) c.683-76G>C (n.683-76G>C) n.2631C>G | |
19 | g.54938060G>T | CA407860520 | NCR1,NLRP7 | c.2113C>A (p.His705Asn) c.2029C>A (p.His677Asn) c.2197C>A (p.His733Asn) c.683-76G>T (n.683-76G>T) n.2631C>A | |
19 | g.54938061A>C | CA407860521 | NCR1,NLRP7 | c.2112T>G (p.Cys704Trp) c.2028T>G (p.Cys676Trp) c.2196T>G (p.Cys732Trp) c.683-75A>C (n.683-75A>C) n.2630T>G | |
19 | g.54938061A>G | CA2587198098 | NCR1,NLRP7 | c.2112T>C (p.Cys704=) c.2028T>C (p.Cys676=) c.2196T>C (p.Cys732=) c.683-75A>G (n.683-75A>G) n.2630T>C | gnomAD v4 |
19 | g.54938061A>T | CA407860522 | NCR1,NLRP7 | c.2112T>A (p.Cys704Ter) c.2028T>A (p.Cys676Ter) c.2196T>A (p.Cys732Ter) c.683-75A>T (n.683-75A>T) n.2630T>A | |
19 | g.54938062C>A | CA407860525 | NCR1,NLRP7 | c.2111G>T (p.Cys704Phe) c.2027G>T (p.Cys676Phe) c.2195G>T (p.Cys732Phe) c.683-74C>A (n.683-74C>A) n.2629G>T | |
19 | g.54938062C>G | CA407860523 | NCR1,NLRP7 | c.2111G>C (p.Cys704Ser) c.2027G>C (p.Cys676Ser) c.2195G>C (p.Cys732Ser) c.683-74C>G (n.683-74C>G) n.2629G>C | |
19 | g.54938062C>T | CA407860524 | NCR1,NLRP7 | c.2111G>A (p.Cys704Tyr) c.2027G>A (p.Cys676Tyr) c.2195G>A (p.Cys732Tyr) c.683-74C>T (n.683-74C>T) n.2629G>A | dbSNP |
19 | g.54938063A>C | CA407860526 | NCR1,NLRP7 | c.2110T>G (p.Cys704Gly) c.2026T>G (p.Cys676Gly) c.2194T>G (p.Cys732Gly) c.683-73A>C (n.683-73A>C) n.2628T>G | |
19 | g.54938063A>G | CA407860527 | NCR1,NLRP7 | c.2110T>C (p.Cys704Arg) c.2026T>C (p.Cys676Arg) c.2194T>C (p.Cys732Arg) c.683-73A>G (n.683-73A>G) n.2628T>C | |
19 | g.54938063A>T | CA407860528 | NCR1,NLRP7 | c.2110T>A (p.Cys704Ser) c.2026T>A (p.Cys676Ser) c.2194T>A (p.Cys732Ser) c.683-73A>T (n.683-73A>T) n.2628T>A | |
19 | g.54938064G>A | CA645620164 | NCR1,NLRP7 | c.2109C>T (p.Thr703=) c.2025C>T (p.Thr675=) c.2193C>T (p.Thr731=) c.683-72G>A (n.683-72G>A) n.2627C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938064G= | CA2343150147 | NCR1,NLRP7 | c.2109C= (p.Thr703=) c.2025C= (p.Thr675=) c.2193C= (p.Thr731=) c.683-72G= (n.683-72G=) n.2627C= | |
19 | g.54938064G>T | CA2587198099 | NCR1,NLRP7 | c.2109C>A (p.Thr703=) c.2025C>A (p.Thr675=) c.2193C>A (p.Thr731=) c.683-72G>T (n.683-72G>T) n.2627C>A | gnomAD v4 |
19 | g.54938065G>A | CA407860529 | NCR1,NLRP7 | c.2108C>T (p.Thr703Ile) c.2024C>T (p.Thr675Ile) c.2192C>T (p.Thr731Ile) c.683-71G>A (n.683-71G>A) n.2626C>T | gnomAD v4 |
19 | g.54938065G>C | CA407860530 | NCR1,NLRP7 | c.2108C>G (p.Thr703Ser) c.2024C>G (p.Thr675Ser) c.2192C>G (p.Thr731Ser) c.683-71G>C (n.683-71G>C) n.2626C>G | |
19 | g.54938065G>T | CA407860531 | NCR1,NLRP7 | c.2108C>A (p.Thr703Asn) c.2024C>A (p.Thr675Asn) c.2192C>A (p.Thr731Asn) c.683-71G>T (n.683-71G>T) n.2626C>A | |
19 | g.54938066T>A | CA407860532 | NCR1,NLRP7 | c.2107A>T (p.Thr703Ser) c.2023A>T (p.Thr675Ser) c.2191A>T (p.Thr731Ser) c.683-70T>A (n.683-70T>A) n.2625A>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938066T>C | CA407860533 | NCR1,NLRP7 | c.2107A>G (p.Thr703Ala) c.2023A>G (p.Thr675Ala) c.2191A>G (p.Thr731Ala) c.683-70T>C (n.683-70T>C) n.2625A>G | dbSNP |
19 | g.54938066T>G | CA407860534 | NCR1,NLRP7 | c.2107A>C (p.Thr703Pro) c.2023A>C (p.Thr675Pro) c.2191A>C (p.Thr731Pro) c.683-70T>G (n.683-70T>G) n.2625A>C | |
19 | g.54938066T= | CA2343150148 | NCR1,NLRP7 | c.2107A= (p.Thr703=) c.2023A= (p.Thr675=) c.2191A= (p.Thr731=) c.683-70T= (n.683-70T=) n.2625A= | |
19 | g.54938067G>C | CA407860535 | NCR1,NLRP7 | c.2106C>G (p.Ser702Arg) c.2022C>G (p.Ser674Arg) c.2190C>G (p.Ser730Arg) c.683-69G>C (n.683-69G>C) n.2624C>G | |
19 | g.54938067G>T | CA407860536 | NCR1,NLRP7 | c.2106C>A (p.Ser702Arg) c.2022C>A (p.Ser674Arg) c.2190C>A (p.Ser730Arg) c.683-69G>T (n.683-69G>T) n.2624C>A | |
19 | g.54938068C>A | CA407860537 | NCR1,NLRP7 | c.2105G>T (p.Ser702Ile) c.2021G>T (p.Ser674Ile) c.2189G>T (p.Ser730Ile) c.683-68C>A (n.683-68C>A) n.2623G>T | COSMIC |
19 | g.54938068C= | CA2343150149 | NCR1,NLRP7 | c.2105G= (p.Ser702=) c.2021G= (p.Ser674=) c.2189G= (p.Ser730=) c.683-68C= (n.683-68C=) n.2623G= | |
19 | g.54938068C>G | CA310015819 | NCR1,NLRP7 | c.2105G>C (p.Ser702Thr) c.2021G>C (p.Ser674Thr) c.2189G>C (p.Ser730Thr) c.683-68C>G (n.683-68C>G) n.2623G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938068C>T | CA310015826 | NCR1,NLRP7 | c.2105G>A (p.Ser702Asn) c.2021G>A (p.Ser674Asn) c.2189G>A (p.Ser730Asn) c.683-68C>T (n.683-68C>T) n.2623G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938069T>A | CA407860538 | NCR1,NLRP7 | c.2104A>T (p.Ser702Cys) c.2020A>T (p.Ser674Cys) c.2188A>T (p.Ser730Cys) c.683-67T>A (n.683-67T>A) n.2622A>T | |
19 | g.54938069T>C | CA407860540 | NCR1,NLRP7 | c.2104A>G (p.Ser702Gly) c.2020A>G (p.Ser674Gly) c.2188A>G (p.Ser730Gly) c.683-67T>C (n.683-67T>C) n.2622A>G | |
19 | g.54938069T>G | CA407860539 | NCR1,NLRP7 | c.2104A>C (p.Ser702Arg) c.2020A>C (p.Ser674Arg) c.2188A>C (p.Ser730Arg) c.683-67T>G (n.683-67T>G) n.2622A>C | |
19 | g.54938071C>A | CA407860541 | NCR1,NLRP7 | c.2102G>T (p.Arg701Leu) c.2018G>T (p.Arg673Leu) c.2186G>T (p.Arg729Leu) c.683-65C>A (n.683-65C>A) n.2620G>T | |
19 | g.54938071C= | CA2343150150 | NCR1,NLRP7 | c.2102G= (p.Arg701=) c.2018G= (p.Arg673=) c.2186G= (p.Arg729=) c.683-65C= (n.683-65C=) n.2620G= | |
19 | g.54938071C>G | CA407860542 | NCR1,NLRP7 | c.2102G>C (p.Arg701Pro) c.2018G>C (p.Arg673Pro) c.2186G>C (p.Arg729Pro) c.683-65C>G (n.683-65C>G) n.2620G>C | |
19 | g.54938071C>T | CA310015840 | NCR1,NLRP7 | c.2102G>A (p.Arg701His) c.2018G>A (p.Arg673His) c.2186G>A (p.Arg729His) c.683-65C>T (n.683-65C>T) n.2620G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938072G>A | CA149994 | NCR1,NLRP7 | c.2101C>T (p.Arg701Cys) c.2017C>T (p.Arg673Cys) c.2185C>T (p.Arg729Cys) c.683-64G>A (n.683-64G>A) n.2619C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938072G>C | CA407860543 | NCR1,NLRP7 | c.2101C>G (p.Arg701Gly) c.2017C>G (p.Arg673Gly) c.2185C>G (p.Arg729Gly) c.683-64G>C (n.683-64G>C) n.2619C>G | dbSNP COSMIC COSMIC COSMIC |
19 | g.54938072G= | CA2343150151 | NCR1,NLRP7 | c.2101C= (p.Arg701=) c.2017C= (p.Arg673=) c.2185C= (p.Arg729=) c.683-64G= (n.683-64G=) n.2619C= | |
19 | g.54938072G>T | CA407860544 | NCR1,NLRP7 | c.2101C>A (p.Arg701Ser) c.2017C>A (p.Arg673Ser) c.2185C>A (p.Arg729Ser) c.683-64G>T (n.683-64G>T) n.2619C>A | COSMIC COSMIC |
19 | g.54938074dup | CA2842908903 | NCR1,NLRP7 | c.2101dup (p.Arg701ProfsTer2) c.2017dup (p.Arg673ProfsTer2) c.2185dup (p.Arg729ProfsTer2) c.683-62dup (n.683-62dup) n.2619dup | |
19 | g.54938073G= | CA2343150152 | NCR1,NLRP7 | c.2100C= (p.Thr700=) c.2016C= (p.Thr672=) c.2184C= (p.Thr728=) c.683-63G= (n.683-63G=) n.2618C= | |
19 | g.54938073G>T | CA310015853 | NCR1,NLRP7 | c.2100C>A (p.Thr700=) c.2016C>A (p.Thr672=) c.2184C>A (p.Thr728=) c.683-63G>T (n.683-63G>T) n.2618C>A | dbSNP |
19 | g.54938074G>A | CA407860545 | NCR1,NLRP7 | c.2099C>T (p.Thr700Ile) c.2015C>T (p.Thr672Ile) c.2183C>T (p.Thr728Ile) c.683-62G>A (n.683-62G>A) n.2617C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938074G>C | CA407860546 | NCR1,NLRP7 | c.2099C>G (p.Thr700Ser) c.2015C>G (p.Thr672Ser) c.2183C>G (p.Thr728Ser) c.683-62G>C (n.683-62G>C) n.2617C>G | dbSNP gnomAD v4 |
19 | g.54938074G= | CA2343150153 | NCR1,NLRP7 | c.2099C= (p.Thr700=) c.2015C= (p.Thr672=) c.2183C= (p.Thr728=) c.683-62G= (n.683-62G=) n.2617C= | |
19 | g.54938074G>T | CA407860547 | NCR1,NLRP7 | c.2099C>A (p.Thr700Asn) c.2015C>A (p.Thr672Asn) c.2183C>A (p.Thr728Asn) c.683-62G>T (n.683-62G>T) n.2617C>A | |
19 | g.54938075T>A | CA407860550 | NCR1,NLRP7 | c.2098A>T (p.Thr700Ser) c.2014A>T (p.Thr672Ser) c.2182A>T (p.Thr728Ser) c.683-61T>A (n.683-61T>A) n.2616A>T | |
19 | g.54938075T>C | CA407860549 | NCR1,NLRP7 | c.2098A>G (p.Thr700Ala) c.2014A>G (p.Thr672Ala) c.2182A>G (p.Thr728Ala) c.683-61T>C (n.683-61T>C) n.2616A>G | |
19 | g.54938075T>G | CA407860548 | NCR1,NLRP7 | c.2098A>C (p.Thr700Pro) c.2014A>C (p.Thr672Pro) c.2182A>C (p.Thr728Pro) c.683-61T>G (n.683-61T>G) n.2616A>C | |
19 | g.54938077A>C | CA407860551 | NCR1,NLRP7 | c.2096T>G (p.Val699Gly) c.2012T>G (p.Val671Gly) c.2180T>G (p.Val727Gly) c.683-59A>C (n.683-59A>C) n.2614T>G | |
19 | g.54938077A>G | CA407860552 | NCR1,NLRP7 | c.2096T>C (p.Val699Ala) c.2012T>C (p.Val671Ala) c.2180T>C (p.Val727Ala) c.683-59A>G (n.683-59A>G) n.2614T>C | |
19 | g.54938077A>T | CA407860553 | NCR1,NLRP7 | c.2096T>A (p.Val699Glu) c.2012T>A (p.Val671Glu) c.2180T>A (p.Val727Glu) c.683-59A>T (n.683-59A>T) n.2614T>A | |
19 | g.54938078C>A | CA407860554 | NCR1,NLRP7 | c.2095G>T (p.Val699Leu) c.2011G>T (p.Val671Leu) c.2179G>T (p.Val727Leu) c.683-58C>A (n.683-58C>A) n.2613G>T | gnomAD v4 |
19 | g.54938078C= | CA2343150154 | NCR1,NLRP7 | c.2095G= (p.Val699=) c.2011G= (p.Val671=) c.2179G= (p.Val727=) c.683-58C= (n.683-58C=) n.2613G= | |
19 | g.54938078C>G | CA407860555 | NCR1,NLRP7 | c.2095G>C (p.Val699Leu) c.2011G>C (p.Val671Leu) c.2179G>C (p.Val727Leu) c.683-58C>G (n.683-58C>G) n.2613G>C | |
19 | g.54938078C>T | CA149991 | NCR1,NLRP7 | c.2095G>A (p.Val699Ile) c.2011G>A (p.Val671Ile) c.2179G>A (p.Val727Ile) c.683-58C>T (n.683-58C>T) n.2613G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938079G>A | CA149988 | NCR1,NLRP7 | c.2094C>T (p.His698=) c.2010C>T (p.His670=) c.2178C>T (p.His726=) c.683-57G>A (n.683-57G>A) n.2612C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938079G>C | CA407860556 | NCR1,NLRP7 | c.2094C>G (p.His698Gln) c.2010C>G (p.His670Gln) c.2178C>G (p.His726Gln) c.683-57G>C (n.683-57G>C) n.2612C>G | |
19 | g.54938079G= | CA2343150155 | NCR1,NLRP7 | c.2094C= (p.His698=) c.2010C= (p.His670=) c.2178C= (p.His726=) c.683-57G= (n.683-57G=) n.2612C= | |
19 | g.54938079G>T | CA407860557 | NCR1,NLRP7 | c.2094C>A (p.His698Gln) c.2010C>A (p.His670Gln) c.2178C>A (p.His726Gln) c.683-57G>T (n.683-57G>T) n.2612C>A | |
19 | g.54938080T>A | CA407860558 | NCR1,NLRP7 | c.2093A>T (p.His698Leu) c.2009A>T (p.His670Leu) c.2177A>T (p.His726Leu) c.683-56T>A (n.683-56T>A) n.2611A>T | |
19 | g.54938080T>C | CA407860559 | NCR1,NLRP7 | c.2093A>G (p.His698Arg) c.2009A>G (p.His670Arg) c.2177A>G (p.His726Arg) c.683-56T>C (n.683-56T>C) n.2611A>G | |
19 | g.54938080T>G | CA407860560 | NCR1,NLRP7 | c.2093A>C (p.His698Pro) c.2009A>C (p.His670Pro) c.2177A>C (p.His726Pro) c.683-56T>G (n.683-56T>G) n.2611A>C | dbSNP gnomAD v4 |
19 | g.54938081G>A | CA407860562 | NCR1,NLRP7 | c.2092C>T (p.His698Tyr) c.2008C>T (p.His670Tyr) c.2176C>T (p.His726Tyr) c.683-55G>A (n.683-55G>A) n.2610C>T | gnomAD v4 |
19 | g.54938081G>C | CA407860563 | NCR1,NLRP7 | c.2092C>G (p.His698Asp) c.2008C>G (p.His670Asp) c.2176C>G (p.His726Asp) c.683-55G>C (n.683-55G>C) n.2610C>G | |
19 | g.54938081G>T | CA407860561 | NCR1,NLRP7 | c.2092C>A (p.His698Asn) c.2008C>A (p.His670Asn) c.2176C>A (p.His726Asn) c.683-55G>T (n.683-55G>T) n.2610C>A | |
19 | g.54938082del | CA2587198100 | NCR1,NLRP7 | c.2092del (p.His698ThrfsTer2) c.2008del (p.His670ThrfsTer2) c.2176del (p.His726ThrfsTer2) c.683-54del (n.683-54del) n.2610del | gnomAD v4 |
19 | g.54938082G>C | CA310015860 | NCR1,NLRP7 | c.2091C>G (p.Asp697Glu) c.2007C>G (p.Asp669Glu) c.2175C>G (p.Asp725Glu) c.683-54G>C (n.683-54G>C) n.2609C>G | dbSNP gnomAD v4 |
19 | g.54938082G= | CA2343150156 | NCR1,NLRP7 | c.2091C= (p.Asp697=) c.2007C= (p.Asp669=) c.2175C= (p.Asp725=) c.683-54G= (n.683-54G=) n.2609C= | |
19 | g.54938082G>T | CA407860564 | NCR1,NLRP7 | c.2091C>A (p.Asp697Glu) c.2007C>A (p.Asp669Glu) c.2175C>A (p.Asp725Glu) c.683-54G>T (n.683-54G>T) n.2609C>A | |
19 | g.54938083T>A | CA407860565 | NCR1,NLRP7 | c.2090A>T (p.Asp697Val) c.2006A>T (p.Asp669Val) c.2174A>T (p.Asp725Val) c.683-53T>A (n.683-53T>A) n.2608A>T | |
19 | g.54938083T>C | CA407860566 | NCR1,NLRP7 | c.2090A>G (p.Asp697Gly) c.2006A>G (p.Asp669Gly) c.2174A>G (p.Asp725Gly) c.683-53T>C (n.683-53T>C) n.2608A>G | COSMIC COSMIC |
19 | g.54938083T>G | CA407860567 | NCR1,NLRP7 | c.2090A>C (p.Asp697Ala) c.2006A>C (p.Asp669Ala) c.2174A>C (p.Asp725Ala) c.683-53T>G (n.683-53T>G) n.2608A>C | |
19 | g.54938086_54938113dup | CA2587198101 | NCR1,NLRP7 | c.2063_2090dup (p.Asp697GlufsTer2) c.1979_2006dup (p.Asp669GlufsTer2) c.2147_2174dup (p.Asp725GlufsTer2) c.683-50_683-23dup (n.683-50_683-23dup) n.2581_2608dup | gnomAD v4 |
19 | g.54938084C>A | CA407860568 | NCR1,NLRP7 | c.2089G>T (p.Asp697Tyr) c.2005G>T (p.Asp669Tyr) c.2173G>T (p.Asp725Tyr) c.683-52C>A (n.683-52C>A) n.2607G>T | |
19 | g.54938084C>G | CA407860569 | NCR1,NLRP7 | c.2089G>C (p.Asp697His) c.2005G>C (p.Asp669His) c.2173G>C (p.Asp725His) c.683-52C>G (n.683-52C>G) n.2607G>C | |
19 | g.54938084C>T | CA407860570 | NCR1,NLRP7 | c.2089G>A (p.Asp697Asn) c.2005G>A (p.Asp669Asn) c.2173G>A (p.Asp725Asn) c.683-52C>T (n.683-52C>T) n.2607G>A | |
19 | g.54938085A>C | CA407860571 | NCR1,NLRP7 | c.2088T>G (p.Cys696Trp) c.2004T>G (p.Cys668Trp) c.2172T>G (p.Cys724Trp) c.683-51A>C (n.683-51A>C) n.2606T>G | |
19 | g.54938085A>T | CA407860572 | NCR1,NLRP7 | c.2088T>A (p.Cys696Ter) c.2004T>A (p.Cys668Ter) c.2172T>A (p.Cys724Ter) c.683-51A>T (n.683-51A>T) n.2606T>A | gnomAD v4 |
19 | g.54938086C>A | CA407860573 | NCR1,NLRP7 | c.2087G>T (p.Cys696Phe) c.2003G>T (p.Cys668Phe) c.2171G>T (p.Cys724Phe) c.683-50C>A (n.683-50C>A) n.2605G>T | |
19 | g.54938086C>G | CA407860574 | NCR1,NLRP7 | c.2087G>C (p.Cys696Ser) c.2003G>C (p.Cys668Ser) c.2171G>C (p.Cys724Ser) c.683-50C>G (n.683-50C>G) n.2605G>C | |
19 | g.54938086C>T | CA407860575 | NCR1,NLRP7 | c.2087G>A (p.Cys696Tyr) c.2003G>A (p.Cys668Tyr) c.2171G>A (p.Cys724Tyr) c.683-50C>T (n.683-50C>T) n.2605G>A | |
19 | g.54938087A>C | CA407860578 | NCR1,NLRP7 | c.2086T>G (p.Cys696Gly) c.2002T>G (p.Cys668Gly) c.2170T>G (p.Cys724Gly) c.683-49A>C (n.683-49A>C) n.2604T>G | |
19 | g.54938087A>G | CA407860577 | NCR1,NLRP7 | c.2086T>C (p.Cys696Arg) c.2002T>C (p.Cys668Arg) c.2170T>C (p.Cys724Arg) c.683-49A>G (n.683-49A>G) n.2604T>C | |
19 | g.54938087A>T | CA407860576 | NCR1,NLRP7 | c.2086T>A (p.Cys696Ser) c.2002T>A (p.Cys668Ser) c.2170T>A (p.Cys724Ser) c.683-49A>T (n.683-49A>T) n.2604T>A | |
19 | g.54938089A>C | CA407860579 | NCR1,NLRP7 | c.2084T>G (p.Leu695Arg) c.2000T>G (p.Leu667Arg) c.2168T>G (p.Leu723Arg) c.683-47A>C (n.683-47A>C) n.2602T>G | |
19 | g.54938089A>G | CA407860580 | NCR1,NLRP7 | c.2084T>C (p.Leu695Pro) c.2000T>C (p.Leu667Pro) c.2168T>C (p.Leu723Pro) c.683-47A>G (n.683-47A>G) n.2602T>C | |
19 | g.54938089A>T | CA407860581 | NCR1,NLRP7 | c.2084T>A (p.Leu695His) c.2000T>A (p.Leu667His) c.2168T>A (p.Leu723His) c.683-47A>T (n.683-47A>T) n.2602T>A | |
19 | g.54938090G>A | CA310015861 | NCR1,NLRP7 | c.2083C>T (p.Leu695Phe) c.1999C>T (p.Leu667Phe) c.2167C>T (p.Leu723Phe) c.683-46G>A (n.683-46G>A) n.2601C>T | dbSNP gnomAD v4 |
19 | g.54938090G>C | CA407860582 | NCR1,NLRP7 | c.2083C>G (p.Leu695Val) c.1999C>G (p.Leu667Val) c.2167C>G (p.Leu723Val) c.683-46G>C (n.683-46G>C) n.2601C>G | COSMIC COSMIC COSMIC |
19 | g.54938090G= | CA2343150157 | NCR1,NLRP7 | c.2083C= (p.Leu695=) c.1999C= (p.Leu667=) c.2167C= (p.Leu723=) c.683-46G= (n.683-46G=) n.2601C= | |
19 | g.54938090G>T | CA407860583 | NCR1,NLRP7 | c.2083C>A (p.Leu695Ile) c.1999C>A (p.Leu667Ile) c.2167C>A (p.Leu723Ile) c.683-46G>T (n.683-46G>T) n.2601C>A | |
19 | g.54938091A>C | CA407860584 | NCR1,NLRP7 | c.2082T>G (p.Ile694Met) c.1998T>G (p.Ile666Met) c.2166T>G (p.Ile722Met) c.683-45A>C (n.683-45A>C) n.2600T>G | |
19 | g.54938092A>C | CA407860585 | NCR1,NLRP7 | c.2081T>G (p.Ile694Ser) c.1997T>G (p.Ile666Ser) c.2165T>G (p.Ile722Ser) c.683-44A>C (n.683-44A>C) n.2599T>G | |
19 | g.54938092A>G | CA407860586 | NCR1,NLRP7 | c.2081T>C (p.Ile694Thr) c.1997T>C (p.Ile666Thr) c.2165T>C (p.Ile722Thr) c.683-44A>G (n.683-44A>G) n.2599T>C | |
19 | g.54938092A>T | CA407860587 | NCR1,NLRP7 | c.2081T>A (p.Ile694Asn) c.1997T>A (p.Ile666Asn) c.2165T>A (p.Ile722Asn) c.683-44A>T (n.683-44A>T) n.2599T>A | |
19 | g.54938093T>A | CA407860588 | NCR1,NLRP7 | c.2080A>T (p.Ile694Phe) c.1996A>T (p.Ile666Phe) c.2164A>T (p.Ile722Phe) c.683-43T>A (n.683-43T>A) n.2598A>T | |
19 | g.54938093T>C | CA407860589 | NCR1,NLRP7 | c.2080A>G (p.Ile694Val) c.1996A>G (p.Ile666Val) c.2164A>G (p.Ile722Val) c.683-43T>C (n.683-43T>C) n.2598A>G | |
19 | g.54938093T>G | CA407860590 | NCR1,NLRP7 | c.2080A>C (p.Ile694Leu) c.1996A>C (p.Ile666Leu) c.2164A>C (p.Ile722Leu) c.683-43T>G (n.683-43T>G) n.2598A>C | |
19 | g.54938094C>A | CA310015876 | NCR1,NLRP7 | c.2079G>T (p.Arg693=) c.1995G>T (p.Arg665=) c.2163G>T (p.Arg721=) c.683-42C>A (n.683-42C>A) n.2597G>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938094C= | CA2343150158 | NCR1,NLRP7 | c.2079G= (p.Arg693=) c.1995G= (p.Arg665=) c.2163G= (p.Arg721=) c.683-42C= (n.683-42C=) n.2597G= | |
19 | g.54938094C>G | CA310015867 | NCR1,NLRP7 | c.2079G>C (p.Arg693=) c.1995G>C (p.Arg665=) c.2163G>C (p.Arg721=) c.683-42C>G (n.683-42C>G) n.2597G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938095C>A | CA310015880 | NCR1,NLRP7 | c.2078G>T (p.Arg693Leu) c.1994G>T (p.Arg665Leu) c.2162G>T (p.Arg721Leu) c.683-41C>A (n.683-41C>A) n.2596G>T | dbSNP gnomAD v4 |
19 | g.54938095C= | CA2343150159 | NCR1,NLRP7 | c.2078G= (p.Arg693=) c.1994G= (p.Arg665=) c.2162G= (p.Arg721=) c.683-41C= (n.683-41C=) n.2596G= | |
19 | g.54938095C>G | CA115078 | NCR1,NLRP7 | c.2078G>C (p.Arg693Pro) c.1994G>C (p.Arg665Pro) c.2162G>C (p.Arg721Pro) c.683-41C>G (n.683-41C>G) n.2596G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938095C>T | CA115087 | NCR1,NLRP7 | c.2078G>A (p.Arg693Gln) c.1994G>A (p.Arg665Gln) c.2162G>A (p.Arg721Gln) c.683-41C>T (n.683-41C>T) n.2596G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938096G>A | CA115075 | NCR1,NLRP7 | c.2077C>T (p.Arg693Trp) c.1993C>T (p.Arg665Trp) c.2161C>T (p.Arg721Trp) c.683-40G>A (n.683-40G>A) n.2595C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938096G>C | CA407860591 | NCR1,NLRP7 | c.2077C>G (p.Arg693Gly) c.1993C>G (p.Arg665Gly) c.2161C>G (p.Arg721Gly) c.683-40G>C (n.683-40G>C) n.2595C>G | |
19 | g.54938096G= | CA2343150160 | NCR1,NLRP7 | c.2077C= (p.Arg693=) c.1993C= (p.Arg665=) c.2161C= (p.Arg721=) c.683-40G= (n.683-40G=) n.2595C= | |
19 | g.54938096G>T | CA310015895 | NCR1,NLRP7 | c.2077C>A (p.Arg693=) c.1993C>A (p.Arg665=) c.2161C>A (p.Arg721=) c.683-40G>T (n.683-40G>T) n.2595C>A | dbSNP gnomAD v4 |
19 | g.54938097C= | CA2343150161 | NCR1,NLRP7 | c.2076G= (p.Val692=) c.1992G= (p.Val664=) c.2160G= (p.Val720=) c.683-39C= (n.683-39C=) n.2594G= | |
19 | g.54938097C>G | CA2587198102 | NCR1,NLRP7 | c.2076G>C (p.Val692=) c.1992G>C (p.Val664=) c.2160G>C (p.Val720=) c.683-39C>G (n.683-39C>G) n.2594G>C | gnomAD v4 |
19 | g.54938097C>T | CA883690238 | NCR1,NLRP7 | c.2076G>A (p.Val692=) c.1992G>A (p.Val664=) c.2160G>A (p.Val720=) c.683-39C>T (n.683-39C>T) n.2594G>A | dbSNP gnomAD v4 |
19 | g.54938098A>C | CA407860592 | NCR1,NLRP7 | c.2075T>G (p.Val692Gly) c.1991T>G (p.Val664Gly) c.2159T>G (p.Val720Gly) c.683-38A>C (n.683-38A>C) n.2593T>G | |
19 | g.54938098A>G | CA407860594 | NCR1,NLRP7 | c.2075T>C (p.Val692Ala) c.1991T>C (p.Val664Ala) c.2159T>C (p.Val720Ala) c.683-38A>G (n.683-38A>G) n.2593T>C | gnomAD v4 |
19 | g.54938098A>T | CA407860593 | NCR1,NLRP7 | c.2075T>A (p.Val692Glu) c.1991T>A (p.Val664Glu) c.2159T>A (p.Val720Glu) c.683-38A>T (n.683-38A>T) n.2593T>A | |
19 | g.54938099C>A | CA407860595 | NCR1,NLRP7 | c.2074G>T (p.Val692Leu) c.1990G>T (p.Val664Leu) c.2158G>T (p.Val720Leu) c.683-37C>A (n.683-37C>A) n.2592G>T | |
19 | g.54938099C= | CA2343150162 | NCR1,NLRP7 | c.2074G= (p.Val692=) c.1990G= (p.Val664=) c.2158G= (p.Val720=) c.683-37C= (n.683-37C=) n.2592G= | |
19 | g.54938099C>G | CA407860597 | NCR1,NLRP7 | c.2074G>C (p.Val692Leu) c.1990G>C (p.Val664Leu) c.2158G>C (p.Val720Leu) c.683-37C>G (n.683-37C>G) n.2592G>C | |
19 | g.54938099C>T | CA407860596 | NCR1,NLRP7 | c.2074G>A (p.Val692Met) c.1990G>A (p.Val664Met) c.2158G>A (p.Val720Met) c.683-37C>T (n.683-37C>T) n.2592G>A | dbSNP |
19 | g.54938100A= | CA2343150163 | NCR1,NLRP7 | c.2073T= (p.Ser691=) c.1989T= (p.Ser663=) c.2157T= (p.Ser719=) c.683-36A= (n.683-36A=) n.2591T= | |
19 | g.54938100A>G | CA883690242 | NCR1,NLRP7 | c.2073T>C (p.Ser691=) c.1989T>C (p.Ser663=) c.2157T>C (p.Ser719=) c.683-36A>G (n.683-36A>G) n.2591T>C | dbSNP gnomAD v4 |
19 | g.54938101G>A | CA407860598 | NCR1,NLRP7 | c.2072C>T (p.Ser691Phe) c.1988C>T (p.Ser663Phe) c.2156C>T (p.Ser719Phe) c.683-35G>A (n.683-35G>A) n.2590C>T | |
19 | g.54938101G>C | CA407860599 | NCR1,NLRP7 | c.2072C>G (p.Ser691Cys) c.1988C>G (p.Ser663Cys) c.2156C>G (p.Ser719Cys) c.683-35G>C (n.683-35G>C) n.2590C>G | |
19 | g.54938101G>T | CA407860600 | NCR1,NLRP7 | c.2072C>A (p.Ser691Tyr) c.1988C>A (p.Ser663Tyr) c.2156C>A (p.Ser719Tyr) c.683-35G>T (n.683-35G>T) n.2590C>A | |
19 | g.54938102A>C | CA407860601 | NCR1,NLRP7 | c.2071T>G (p.Ser691Ala) c.1987T>G (p.Ser663Ala) c.2155T>G (p.Ser719Ala) c.683-34A>C (n.683-34A>C) n.2589T>G | |
19 | g.54938102A>G | CA407860602 | NCR1,NLRP7 | c.2071T>C (p.Ser691Pro) c.1987T>C (p.Ser663Pro) c.2155T>C (p.Ser719Pro) c.683-34A>G (n.683-34A>G) n.2589T>C | |
19 | g.54938102A>T | CA407860603 | NCR1,NLRP7 | c.2071T>A (p.Ser691Thr) c.1987T>A (p.Ser663Thr) c.2155T>A (p.Ser719Thr) c.683-34A>T (n.683-34A>T) n.2589T>A | |
19 | g.54938102_54938104delinsAAG | CA2343150164 | NCR1,NLRP7 | c.2069_2071delinsCTT (p.Ser690=) c.1985_1987delinsCTT (p.Ser662=) c.2153_2155delinsCTT (p.Ser718=) c.683-34_683-32delinsAAG (n.683-34_683-32delinsAAG) n.2587_2589delinsCTT | |
19 | g.54938103A= | CA2343150165 | NCR1,NLRP7 | c.2070T= (p.Ser690=) c.1986T= (p.Ser662=) c.2154T= (p.Ser718=) c.683-33A= (n.683-33A=) n.2588T= | |
19 | g.54938103A>G | CA310015903 | NCR1,NLRP7 | c.2070T>C (p.Ser690=) c.1986T>C (p.Ser662=) c.2154T>C (p.Ser718=) c.683-33A>G (n.683-33A>G) n.2588T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938105_54938106del | CA883690248 | NCR1,NLRP7 | c.2069_2070del (p.Ser690PhefsTer7) c.1985_1986del (p.Ser662PhefsTer7) c.2153_2154del (p.Ser718PhefsTer7) c.683-31_683-30del (n.683-31_683-30del) n.2587_2588del | dbSNP |
19 | g.54938104G>A | CA407860604 | NCR1,NLRP7 | c.2069C>T (p.Ser690Phe) c.1985C>T (p.Ser662Phe) c.2153C>T (p.Ser718Phe) c.683-32G>A (n.683-32G>A) n.2587C>T | |
19 | g.54938104G>C | CA407860605 | NCR1,NLRP7 | c.2069C>G (p.Ser690Cys) c.1985C>G (p.Ser662Cys) c.2153C>G (p.Ser718Cys) c.683-32G>C (n.683-32G>C) n.2587C>G | |
19 | g.54938104G>T | CA407860606 | NCR1,NLRP7 | c.2069C>A (p.Ser690Tyr) c.1985C>A (p.Ser662Tyr) c.2153C>A (p.Ser718Tyr) c.683-32G>T (n.683-32G>T) n.2587C>A | |
19 | g.54938105A= | CA2343150166 | NCR1,NLRP7 | c.2068T= (p.Ser690=) c.1984T= (p.Ser662=) c.2152T= (p.Ser718=) c.683-31A= (n.683-31A=) n.2586T= | |
19 | g.54938105A>C | CA407860609 | NCR1,NLRP7 | c.2068T>G (p.Ser690Ala) c.1984T>G (p.Ser662Ala) c.2152T>G (p.Ser718Ala) c.683-31A>C (n.683-31A>C) n.2586T>G | |
19 | g.54938105A>G | CA407860608 | NCR1,NLRP7 | c.2068T>C (p.Ser690Pro) c.1984T>C (p.Ser662Pro) c.2152T>C (p.Ser718Pro) c.683-31A>G (n.683-31A>G) n.2586T>C | dbSNP |
19 | g.54938105A>T | CA407860607 | NCR1,NLRP7 | c.2068T>A (p.Ser690Thr) c.1984T>A (p.Ser662Thr) c.2152T>A (p.Ser718Thr) c.683-31A>T (n.683-31A>T) n.2586T>A | |
19 | g.54938106G>C | CA407860610 | NCR1,NLRP7 | c.2067C>G (p.Asp689Glu) c.1983C>G (p.Asp661Glu) c.2151C>G (p.Asp717Glu) c.683-30G>C (n.683-30G>C) n.2585C>G | |
19 | g.54938106G>T | CA407860611 | NCR1,NLRP7 | c.2067C>A (p.Asp689Glu) c.1983C>A (p.Asp661Glu) c.2151C>A (p.Asp717Glu) c.683-30G>T (n.683-30G>T) n.2585C>A | |
19 | g.54938107T>A | CA407860612 | NCR1,NLRP7 | c.2066A>T (p.Asp689Val) c.1982A>T (p.Asp661Val) c.2150A>T (p.Asp717Val) c.683-29T>A (n.683-29T>A) n.2584A>T | |
19 | g.54938107T>C | CA407860613 | NCR1,NLRP7 | c.2066A>G (p.Asp689Gly) c.1982A>G (p.Asp661Gly) c.2150A>G (p.Asp717Gly) c.683-29T>C (n.683-29T>C) n.2584A>G | |
19 | g.54938107T>G | CA407860614 | NCR1,NLRP7 | c.2066A>C (p.Asp689Ala) c.1982A>C (p.Asp661Ala) c.2150A>C (p.Asp717Ala) c.683-29T>G (n.683-29T>G) n.2584A>C | |
19 | g.54938108C>A | CA407860615 | NCR1,NLRP7 | c.2065G>T (p.Asp689Tyr) c.1981G>T (p.Asp661Tyr) c.2149G>T (p.Asp717Tyr) c.683-28C>A (n.683-28C>A) n.2583G>T | gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938108C>G | CA407860616 | NCR1,NLRP7 | c.2065G>C (p.Asp689His) c.1981G>C (p.Asp661His) c.2149G>C (p.Asp717His) c.683-28C>G (n.683-28C>G) n.2583G>C | |
19 | g.54938108C>T | CA407860617 | NCR1,NLRP7 | c.2065G>A (p.Asp689Asn) c.1981G>A (p.Asp661Asn) c.2149G>A (p.Asp717Asn) c.683-28C>T (n.683-28C>T) n.2583G>A | COSMIC COSMIC COSMIC |
19 | g.54938109A= | CA2343150167 | NCR1,NLRP7 | c.2064T= (p.Ser688=) c.1980T= (p.Ser660=) c.2148T= (p.Ser716=) c.683-27A= (n.683-27A=) n.2582T= | |
19 | g.54938109A>C | CA407860618 | NCR1,NLRP7 | c.2064T>G (p.Ser688Arg) c.1980T>G (p.Ser660Arg) c.2148T>G (p.Ser716Arg) c.683-27A>C (n.683-27A>C) n.2582T>G | |
19 | g.54938109A>T | CA407860619 | NCR1,NLRP7 | c.2064T>A (p.Ser688Arg) c.1980T>A (p.Ser660Arg) c.2148T>A (p.Ser716Arg) c.683-27A>T (n.683-27A>T) n.2582T>A | dbSNP |
19 | g.54938110C>A | CA407860622 | NCR1,NLRP7 | c.2063G>T (p.Ser688Ile) c.1979G>T (p.Ser660Ile) c.2147G>T (p.Ser716Ile) c.683-26C>A (n.683-26C>A) n.2581G>T | |
19 | g.54938110C>G | CA407860621 | NCR1,NLRP7 | c.2063G>C (p.Ser688Thr) c.1979G>C (p.Ser660Thr) c.2147G>C (p.Ser716Thr) c.683-26C>G (n.683-26C>G) n.2581G>C | |
19 | g.54938110C>T | CA407860620 | NCR1,NLRP7 | c.2063G>A (p.Ser688Asn) c.1979G>A (p.Ser660Asn) c.2147G>A (p.Ser716Asn) c.683-26C>T (n.683-26C>T) n.2581G>A | |
19 | g.54938111T>A | CA407860623 | NCR1,NLRP7 | c.2062A>T (p.Ser688Cys) c.1978A>T (p.Ser660Cys) c.2146A>T (p.Ser716Cys) c.683-25T>A (n.683-25T>A) n.2580A>T | |
19 | g.54938111T>C | CA407860624 | NCR1,NLRP7 | c.2062A>G (p.Ser688Gly) c.1978A>G (p.Ser660Gly) c.2146A>G (p.Ser716Gly) c.683-25T>C (n.683-25T>C) n.2580A>G | |
19 | g.54938111T>G | CA407860625 | NCR1,NLRP7 | c.2062A>C (p.Ser688Arg) c.1978A>C (p.Ser660Arg) c.2146A>C (p.Ser716Arg) c.683-25T>G (n.683-25T>G) n.2580A>C | |
19 | g.54938112C>A | CA2576889689 | NCR1,NLRP7 | c.2061G>T (p.Leu687=) c.1977G>T (p.Leu659=) c.2145G>T (p.Leu715=) c.683-24C>A (n.683-24C>A) n.2579G>T | |
19 | g.54938112C>T | CA2587198103 | NCR1,NLRP7 | c.2061G>A (p.Leu687=) c.1977G>A (p.Leu659=) c.2145G>A (p.Leu715=) c.683-24C>T (n.683-24C>T) n.2579G>A | gnomAD v4 |
19 | g.54938113A= | CA2343150168 | NCR1,NLRP7 | c.2060T= (p.Leu687=) c.1976T= (p.Leu659=) c.2144T= (p.Leu715=) c.683-23A= (n.683-23A=) n.2578T= | |
19 | g.54938113A>C | CA407860626 | NCR1,NLRP7 | c.2060T>G (p.Leu687Arg) c.1976T>G (p.Leu659Arg) c.2144T>G (p.Leu715Arg) c.683-23A>C (n.683-23A>C) n.2578T>G | |
19 | g.54938113A>G | CA407860627 | NCR1,NLRP7 | c.2060T>C (p.Leu687Pro) c.1976T>C (p.Leu659Pro) c.2144T>C (p.Leu715Pro) c.683-23A>G (n.683-23A>G) n.2578T>C | |
19 | g.54938113A>T | CA407860628 | NCR1,NLRP7 | c.2060T>A (p.Leu687Gln) c.1976T>A (p.Leu659Gln) c.2144T>A (p.Leu715Gln) c.683-23A>T (n.683-23A>T) n.2578T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938114G>A | CA2587198104 | NCR1,NLRP7 | c.2059C>T (p.Leu687=) c.1975C>T (p.Leu659=) c.2143C>T (p.Leu715=) c.683-22G>A (n.683-22G>A) n.2577C>T | gnomAD v4 |
19 | g.54938114G>C | CA407860629 | NCR1,NLRP7 | c.2059C>G (p.Leu687Val) c.1975C>G (p.Leu659Val) c.2143C>G (p.Leu715Val) c.683-22G>C (n.683-22G>C) n.2577C>G | dbSNP gnomAD v4 |
19 | g.54938114G= | CA2343150169 | NCR1,NLRP7 | c.2059C= (p.Leu687=) c.1975C= (p.Leu659=) c.2143C= (p.Leu715=) c.683-22G= (n.683-22G=) n.2577C= | |
19 | g.54938114G>T | CA407860630 | NCR1,NLRP7 | c.2059C>A (p.Leu687Met) c.1975C>A (p.Leu659Met) c.2143C>A (p.Leu715Met) c.683-22G>T (n.683-22G>T) n.2577C>A | |
19 | g.54938115dup | CA997220254 | NCR1,NLRP7 | c.2059dup (p.Leu687ProfsTer3) c.1975dup (p.Leu659ProfsTer3) c.2143dup (p.Leu715ProfsTer3) c.683-21dup (n.683-21dup) n.2577dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938115G>A | CA645620165 | NCR1,NLRP7 | c.2058C>T (p.Phe686=) c.1974C>T (p.Phe658=) c.2142C>T (p.Phe714=) c.683-21G>A (n.683-21G>A) n.2576C>T | gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938115G>C | CA407860631 | NCR1,NLRP7 | c.2058C>G (p.Phe686Leu) c.1974C>G (p.Phe658Leu) c.2142C>G (p.Phe714Leu) c.683-21G>C (n.683-21G>C) n.2576C>G | |
19 | g.54938115G>T | CA407860632 | NCR1,NLRP7 | c.2058C>A (p.Phe686Leu) c.1974C>A (p.Phe658Leu) c.2142C>A (p.Phe714Leu) c.683-21G>T (n.683-21G>T) n.2576C>A | COSMIC COSMIC COSMIC |
19 | g.54938116A>C | CA407860633 | NCR1,NLRP7 | c.2057T>G (p.Phe686Cys) c.1973T>G (p.Phe658Cys) c.2141T>G (p.Phe714Cys) c.683-20A>C (n.683-20A>C) n.2575T>G | |
19 | g.54938116A>G | CA407860634 | NCR1,NLRP7 | c.2057T>C (p.Phe686Ser) c.1973T>C (p.Phe658Ser) c.2141T>C (p.Phe714Ser) c.683-20A>G (n.683-20A>G) n.2575T>C | gnomAD v4 |
19 | g.54938116A>T | CA407860635 | NCR1,NLRP7 | c.2057T>A (p.Phe686Tyr) c.1973T>A (p.Phe658Tyr) c.2141T>A (p.Phe714Tyr) c.683-20A>T (n.683-20A>T) n.2575T>A | |
19 | g.54938117del | CA2587198105 | NCR1,NLRP7 | c.2057del (p.Phe686SerfsTer2) c.1973del (p.Phe658SerfsTer2) c.2141del (p.Phe714SerfsTer2) c.683-19del (n.683-19del) n.2575del | gnomAD v4 |
19 | g.54938117A= | CA2343150170 | NCR1,NLRP7 | c.2056T= (p.Phe686=) c.1972T= (p.Phe658=) c.2140T= (p.Phe714=) c.683-19A= (n.683-19A=) n.2574T= | |
19 | g.54938117A>C | CA407860636 | NCR1,NLRP7 | c.2056T>G (p.Phe686Val) c.1972T>G (p.Phe658Val) c.2140T>G (p.Phe714Val) c.683-19A>C (n.683-19A>C) n.2574T>G | |
19 | g.54938117A>G | CA407860638 | NCR1,NLRP7 | c.2056T>C (p.Phe686Leu) c.1972T>C (p.Phe658Leu) c.2140T>C (p.Phe714Leu) c.683-19A>G (n.683-19A>G) n.2574T>C | dbSNP gnomAD v4 |
19 | g.54938117A>T | CA407860637 | NCR1,NLRP7 | c.2056T>A (p.Phe686Ile) c.1972T>A (p.Phe658Ile) c.2140T>A (p.Phe714Ile) c.683-19A>T (n.683-19A>T) n.2574T>A | |
19 | g.54938118G>A | CA2576889690 | NCR1,NLRP7 | c.2055C>T (p.Ser685=) c.1971C>T (p.Ser657=) c.2139C>T (p.Ser713=) c.683-18G>A (n.683-18G>A) n.2573C>T | gnomAD v4 |
19 | g.54938118G>C | CA407860639 | NCR1,NLRP7 | c.2055C>G (p.Ser685Arg) c.1971C>G (p.Ser657Arg) c.2139C>G (p.Ser713Arg) c.683-18G>C (n.683-18G>C) n.2573C>G | |
19 | g.54938118G>T | CA407860640 | NCR1,NLRP7 | c.2055C>A (p.Ser685Arg) c.1971C>A (p.Ser657Arg) c.2139C>A (p.Ser713Arg) c.683-18G>T (n.683-18G>T) n.2573C>A | |
19 | g.54938119C>A | CA407860641 | NCR1,NLRP7 | c.2054G>T (p.Ser685Ile) c.1970G>T (p.Ser657Ile) c.2138G>T (p.Ser713Ile) c.683-17C>A (n.683-17C>A) n.2572G>T | |
19 | g.54938119C>G | CA407860642 | NCR1,NLRP7 | c.2054G>C (p.Ser685Thr) c.1970G>C (p.Ser657Thr) c.2138G>C (p.Ser713Thr) c.683-17C>G (n.683-17C>G) n.2572G>C | |
19 | g.54938119C>T | CA407860643 | NCR1,NLRP7 | c.2054G>A (p.Ser685Asn) c.1970G>A (p.Ser657Asn) c.2138G>A (p.Ser713Asn) c.683-17C>T (n.683-17C>T) n.2572G>A | |
19 | g.54938120T>A | CA407860644 | NCR1,NLRP7 | c.2053A>T (p.Ser685Cys) c.1969A>T (p.Ser657Cys) c.2137A>T (p.Ser713Cys) c.683-16T>A (n.683-16T>A) n.2571A>T | |
19 | g.54938120T>C | CA407860645 | NCR1,NLRP7 | c.2053A>G (p.Ser685Gly) c.1969A>G (p.Ser657Gly) c.2137A>G (p.Ser713Gly) c.683-16T>C (n.683-16T>C) n.2571A>G | |
19 | g.54938120T>G | CA407860646 | NCR1,NLRP7 | c.2053A>C (p.Ser685Arg) c.1969A>C (p.Ser657Arg) c.2137A>C (p.Ser713Arg) c.683-16T>G (n.683-16T>G) n.2571A>C | |
19 | g.54938121T>A | CA407860647 | NCR1,NLRP7 | c.2052A>T (p.Gln684His) c.1968A>T (p.Gln656His) c.2136A>T (p.Gln712His) c.683-15T>A (n.683-15T>A) n.2570A>T | |
19 | g.54938121T>G | CA407860648 | NCR1,NLRP7 | c.2052A>C (p.Gln684His) c.1968A>C (p.Gln656His) c.2136A>C (p.Gln712His) c.683-15T>G (n.683-15T>G) n.2570A>C | |
19 | g.54938122T>A | CA407860650 | NCR1,NLRP7 | c.2051A>T (p.Gln684Leu) c.1967A>T (p.Gln656Leu) c.2135A>T (p.Gln712Leu) c.683-14T>A (n.683-14T>A) n.2569A>T | |
19 | g.54938122T>C | CA407860651 | NCR1,NLRP7 | c.2051A>G (p.Gln684Arg) c.1967A>G (p.Gln656Arg) c.2135A>G (p.Gln712Arg) c.683-14T>C (n.683-14T>C) n.2569A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938122T>G | CA407860649 | NCR1,NLRP7 | c.2051A>C (p.Gln684Pro) c.1967A>C (p.Gln656Pro) c.2135A>C (p.Gln712Pro) c.683-14T>G (n.683-14T>G) n.2569A>C | |
19 | g.54938122T= | CA2343150171 | NCR1,NLRP7 | c.2051A= (p.Gln684=) c.1967A= (p.Gln656=) c.2135A= (p.Gln712=) c.683-14T= (n.683-14T=) n.2569A= | |
19 | g.54938123G>A | CA407860654 | NCR1,NLRP7 | c.2050C>T (p.Gln684Ter) c.1966C>T (p.Gln656Ter) c.2134C>T (p.Gln712Ter) c.683-13G>A (n.683-13G>A) n.2568C>T | |
19 | g.54938123G>C | CA407860652 | NCR1,NLRP7 | c.2050C>G (p.Gln684Glu) c.1966C>G (p.Gln656Glu) c.2134C>G (p.Gln712Glu) c.683-13G>C (n.683-13G>C) n.2568C>G | |
19 | g.54938123G>T | CA407860653 | NCR1,NLRP7 | c.2050C>A (p.Gln684Lys) c.1966C>A (p.Gln656Lys) c.2134C>A (p.Gln712Lys) c.683-13G>T (n.683-13G>T) n.2568C>A | |
19 | g.54938124T>A | CA407860655 | NCR1,NLRP7 | c.2049A>T (p.Lys683Asn) c.1965A>T (p.Lys655Asn) c.2133A>T (p.Lys711Asn) c.683-12T>A (n.683-12T>A) n.2567A>T | |
19 | g.54938124T>C | CA645620166 | NCR1,NLRP7 | c.2049A>G (p.Lys683=) c.1965A>G (p.Lys655=) c.2133A>G (p.Lys711=) c.683-12T>C (n.683-12T>C) n.2567A>G | COSMIC COSMIC COSMIC |
19 | g.54938124T>G | CA407860656 | NCR1,NLRP7 | c.2049A>C (p.Lys683Asn) c.1965A>C (p.Lys655Asn) c.2133A>C (p.Lys711Asn) c.683-12T>G (n.683-12T>G) n.2567A>C | |
19 | g.54938125T>A | CA407860657 | NCR1,NLRP7 | c.2048A>T (p.Lys683Ile) c.1964A>T (p.Lys655Ile) c.2132A>T (p.Lys711Ile) c.683-11T>A (n.683-11T>A) n.2566A>T | |
19 | g.54938125T>C | CA407860658 | NCR1,NLRP7 | c.2048A>G (p.Lys683Arg) c.1964A>G (p.Lys655Arg) c.2132A>G (p.Lys711Arg) c.683-11T>C (n.683-11T>C) n.2566A>G | |
19 | g.54938125T>G | CA407860659 | NCR1,NLRP7 | c.2048A>C (p.Lys683Thr) c.1964A>C (p.Lys655Thr) c.2132A>C (p.Lys711Thr) c.683-11T>G (n.683-11T>G) n.2566A>C | |
19 | g.54938126T>A | CA407860660 | NCR1,NLRP7 | c.2047A>T (p.Lys683Ter) c.1963A>T (p.Lys655Ter) c.2131A>T (p.Lys711Ter) c.683-10T>A (n.683-10T>A) n.2565A>T | |
19 | g.54938126T>C | CA310015906 | NCR1,NLRP7 | c.2047A>G (p.Lys683Glu) c.1963A>G (p.Lys655Glu) c.2131A>G (p.Lys711Glu) c.683-10T>C (n.683-10T>C) n.2565A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938126T>G | CA407860661 | NCR1,NLRP7 | c.2047A>C (p.Lys683Gln) c.1963A>C (p.Lys655Gln) c.2131A>C (p.Lys711Gln) c.683-10T>G (n.683-10T>G) n.2565A>C | |
19 | g.54938126T= | CA2343150172 | NCR1,NLRP7 | c.2047A= (p.Lys683=) c.1963A= (p.Lys655=) c.2131A= (p.Lys711=) c.683-10T= (n.683-10T=) n.2565A= | |
19 | g.54938127C= | CA2343150173 | NCR1,NLRP7 | c.2046G= (p.Val682=) c.1962G= (p.Val654=) c.2130G= (p.Val710=) c.683-9C= (n.683-9C=) n.2564G= | |
19 | g.54938127C>T | CA310015914 | NCR1,NLRP7 | c.2046G>A (p.Val682=) c.1962G>A (p.Val654=) c.2130G>A (p.Val710=) c.683-9C>T (n.683-9C>T) n.2564G>A | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938128A>C | CA407860662 | NCR1,NLRP7 | c.2045T>G (p.Val682Gly) c.1961T>G (p.Val654Gly) c.2129T>G (p.Val710Gly) c.683-8A>C (n.683-8A>C) n.2563T>G | |
19 | g.54938128A>G | CA407860663 | NCR1,NLRP7 | c.2045T>C (p.Val682Ala) c.1961T>C (p.Val654Ala) c.2129T>C (p.Val710Ala) c.683-8A>G (n.683-8A>G) n.2563T>C | |
19 | g.54938128A>T | CA407860664 | NCR1,NLRP7 | c.2045T>A (p.Val682Glu) c.1961T>A (p.Val654Glu) c.2129T>A (p.Val710Glu) c.683-8A>T (n.683-8A>T) n.2563T>A | |
19 | g.54938129C>A | CA407860665 | NCR1,NLRP7 | c.2044G>T (p.Val682Leu) c.1960G>T (p.Val654Leu) c.2128G>T (p.Val710Leu) c.683-7C>A (n.683-7C>A) n.2562G>T | |
19 | g.54938129C>G | CA407860667 | NCR1,NLRP7 | c.2044G>C (p.Val682Leu) c.1960G>C (p.Val654Leu) c.2128G>C (p.Val710Leu) c.683-7C>G (n.683-7C>G) n.2562G>C | |
19 | g.54938129C>T | CA407860666 | NCR1,NLRP7 | c.2044G>A (p.Val682Met) c.1960G>A (p.Val654Met) c.2128G>A (p.Val710Met) c.683-7C>T (n.683-7C>T) n.2562G>A | |
19 | g.54938130T>A | CA407860668 | NCR1,NLRP7 | c.2043A>T (p.Glu681Asp) c.1959A>T (p.Glu653Asp) c.2127A>T (p.Glu709Asp) c.683-6T>A (n.683-6T>A) n.2561A>T | gnomAD v4 |
19 | g.54938130T>C | CA2587198106 | NCR1,NLRP7 | c.2043A>G (p.Glu681=) c.1959A>G (p.Glu653=) c.2127A>G (p.Glu709=) c.683-6T>C (n.683-6T>C) n.2561A>G | gnomAD v4 |
19 | g.54938130T>G | CA407860669 | NCR1,NLRP7 | c.2043A>C (p.Glu681Asp) c.1959A>C (p.Glu653Asp) c.2127A>C (p.Glu709Asp) c.683-6T>G (n.683-6T>G) n.2561A>C | |
19 | g.54938131T>A | CA407860670 | NCR1,NLRP7 | c.2042A>T (p.Glu681Val) c.1958A>T (p.Glu653Val) c.2126A>T (p.Glu709Val) c.683-5T>A (n.683-5T>A) n.2560A>T | |
19 | g.54938131T>C | CA407860671 | NCR1,NLRP7 | c.2042A>G (p.Glu681Gly) c.1958A>G (p.Glu653Gly) c.2126A>G (p.Glu709Gly) c.683-5T>C (n.683-5T>C) n.2560A>G | |
19 | g.54938131T>G | CA407860672 | NCR1,NLRP7 | c.2042A>C (p.Glu681Ala) c.1958A>C (p.Glu653Ala) c.2126A>C (p.Glu709Ala) c.683-5T>G (n.683-5T>G) n.2560A>C | |
19 | g.54938132C>A | CA407860673 | NCR1,NLRP7 | c.2041G>T (p.Glu681Ter) c.1957G>T (p.Glu653Ter) c.2125G>T (p.Glu709Ter) c.683-4C>A (n.683-4C>A) n.2559G>T | |
19 | g.54938132C>G | CA407860674 | NCR1,NLRP7 | c.2041G>C (p.Glu681Gln) c.1957G>C (p.Glu653Gln) c.2125G>C (p.Glu709Gln) c.683-4C>G (n.683-4C>G) n.2559G>C | |
19 | g.54938132C>T | CA407860675 | NCR1,NLRP7 | c.2041G>A (p.Glu681Lys) c.1957G>A (p.Glu653Lys) c.2125G>A (p.Glu709Lys) c.683-4C>T (n.683-4C>T) n.2559G>A | COSMIC COSMIC COSMIC |
19 | g.54938134A= | CA2343150174 | NCR1,NLRP7 | c.2039T= (p.Leu680=) c.1955T= (p.Leu652=) c.2123T= (p.Leu708=) c.683-2A= (n.683-2A=) n.2557T= | |
19 | g.54938134A>C | CA407860676 | NCR1,NLRP7 | c.2039T>G (p.Leu680Arg) c.1955T>G (p.Leu652Arg) c.2123T>G (p.Leu708Arg) c.683-2A>C (n.683-2A>C) n.2557T>G | |
19 | g.54938134A>G | CA407860677 | NCR1,NLRP7 | c.2039T>C (p.Leu680Pro) c.1955T>C (p.Leu652Pro) c.2123T>C (p.Leu708Pro) c.683-2A>G (n.683-2A>G) n.2557T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938134A>T | CA407860678 | NCR1,NLRP7 | c.2039T>A (p.Leu680Gln) c.1955T>A (p.Leu652Gln) c.2123T>A (p.Leu708Gln) c.683-2A>T (n.683-2A>T) n.2557T>A | |
19 | g.54938135G>C | CA407860680 | NCR1,NLRP7 | c.2038C>G (p.Leu680Val) c.1954C>G (p.Leu652Val) c.2122C>G (p.Leu708Val) c.683-1G>C (n.683-1G>C) n.2556C>G | gnomAD v4 |
19 | g.54938135G>T | CA407860679 | NCR1,NLRP7 | c.2038C>A (p.Leu680Met) c.1954C>A (p.Leu652Met) c.2122C>A (p.Leu708Met) c.683-1G>T (n.683-1G>T) n.2556C>A | |
19 | g.54938136A>C | CA407860681 | NCR1,NLRP7 | c.2037T>G (p.Phe679Leu) c.1953T>G (p.Phe651Leu) c.2121T>G (p.Phe707Leu) c.683A>C (p.Glu228Ala) n.2555T>G | |
19 | g.54938136A>G | CA645620167 | NCR1,NLRP7 | c.2037T>C (p.Phe679=) c.1953T>C (p.Phe651=) c.2121T>C (p.Phe707=) c.683A>G (p.Glu228Gly) n.2555T>C | gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938136A>T | CA407860682 | NCR1,NLRP7 | c.2037T>A (p.Phe679Leu) c.1953T>A (p.Phe651Leu) c.2121T>A (p.Phe707Leu) c.683A>T (p.Glu228Val) n.2555T>A | |
19 | g.54938137A>C | CA407860683 | NCR1,NLRP7 | c.2036T>G (p.Phe679Cys) c.1952T>G (p.Phe651Cys) c.2120T>G (p.Phe707Cys) c.684A>C (p.Glu228Asp) n.2554T>G | |
19 | g.54938137A>G | CA407860684 | NCR1,NLRP7 | c.2036T>C (p.Phe679Ser) c.1952T>C (p.Phe651Ser) c.2120T>C (p.Phe707Ser) c.684A>G (p.Glu228=) n.2554T>C | |
19 | g.54938137A>T | CA407860685 | NCR1,NLRP7 | c.2036T>A (p.Phe679Tyr) c.1952T>A (p.Phe651Tyr) c.2120T>A (p.Phe707Tyr) c.684A>T (p.Glu228Asp) n.2554T>A | |
19 | g.54938138A>C | CA407860686 | NCR1,NLRP7 | c.2035T>G (p.Phe679Val) c.1951T>G (p.Phe651Val) c.2119T>G (p.Phe707Val) c.685A>C (p.Thr229Pro) n.2553T>G | |
19 | g.54938138A>G | CA407860687 | NCR1,NLRP7 | c.2035T>C (p.Phe679Leu) c.1951T>C (p.Phe651Leu) c.2119T>C (p.Phe707Leu) c.685A>G (p.Thr229Ala) n.2553T>C | |
19 | g.54938138A>T | CA407860688 | NCR1,NLRP7 | c.2035T>A (p.Phe679Ile) c.1951T>A (p.Phe651Ile) c.2119T>A (p.Phe707Ile) c.685A>T (p.Thr229Ser) n.2553T>A | |
19 | g.54938139C>A | CA407860689 | NCR1,NLRP7 | c.2034G>T (p.Lys678Asn) c.1950G>T (p.Lys650Asn) c.2118G>T (p.Lys706Asn) c.686C>A (p.Thr229Asn) n.2552G>T | |
19 | g.54938139C= | CA2343150175 | NCR1,NLRP7 | c.2034G= (p.Lys678=) c.1950G= (p.Lys650=) c.2118G= (p.Lys706=) c.686C= (p.Thr229=) n.2552G= | |
19 | g.54938139C>G | CA407860690 | NCR1,NLRP7 | c.2034G>C (p.Lys678Asn) c.1950G>C (p.Lys650Asn) c.2118G>C (p.Lys706Asn) c.686C>G (p.Thr229Ser) n.2552G>C | |
19 | g.54938139C>T | CA310015920 | NCR1,NLRP7 | c.2034G>A (p.Lys678=) c.1950G>A (p.Lys650=) c.2118G>A (p.Lys706=) c.686C>T (p.Thr229Ile) n.2552G>A | dbSNP gnomAD v4 |
19 | g.54938140T>A | CA407860691 | NCR1,NLRP7 | c.2033A>T (p.Lys678Met) c.1949A>T (p.Lys650Met) c.2117A>T (p.Lys706Met) c.687T>A (p.Thr229=) n.2551A>T | |
19 | g.54938140T>C | CA407860692 | NCR1,NLRP7 | c.2033A>G (p.Lys678Arg) c.1949A>G (p.Lys650Arg) c.2117A>G (p.Lys706Arg) c.687T>C (p.Thr229=) n.2551A>G | gnomAD v4 |
19 | g.54938140T>G | CA407860693 | NCR1,NLRP7 | c.2033A>C (p.Lys678Thr) c.1949A>C (p.Lys650Thr) c.2117A>C (p.Lys706Thr) c.687T>G (p.Thr229=) n.2551A>C | |
19 | g.54938141del | CA2587198107 | NCR1,NLRP7 | c.2033del (p.Lys678SerfsTer5) c.1949del (p.Lys650SerfsTer5) c.2117del (p.Lys706SerfsTer5) c.688del (p.Ter230GluextTer5) n.2551del | gnomAD v4 |
19 | g.54938141T>A | CA407860696 | NCR1,NLRP7 | c.2032A>T (p.Lys678Ter) c.1948A>T (p.Lys650Ter) c.2116A>T (p.Lys706Ter) c.688T>A (p.Ter230Arg) n.2550A>T | dbSNP gnomAD v4 |
19 | g.54938141T>C | CA407860695 | NCR1,NLRP7 | c.2032A>G (p.Lys678Glu) c.1948A>G (p.Lys650Glu) c.2116A>G (p.Lys706Glu) c.688T>C (p.Ter230Arg) n.2550A>G | |
19 | g.54938141T>G | CA407860694 | NCR1,NLRP7 | c.2032A>C (p.Lys678Gln) c.1948A>C (p.Lys650Gln) c.2116A>C (p.Lys706Gln) c.688T>G (p.Ter230Gly) n.2550A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938141T= | CA2343150176 | NCR1,NLRP7 | c.2032A= (p.Lys678=) c.1948A= (p.Lys650=) c.2116A= (p.Lys706=) c.688T= (p.Ter230=) n.2550A= | |
19 | g.54938142G>A | CA310015938 | NCR1,NLRP7 | c.2031C>T (p.Leu677=) c.1947C>T (p.Leu649=) c.2115C>T (p.Leu705=) c.689G>A (p.Ter230=) n.2549C>T | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.54938142G>C | CA310015939 | NCR1,NLRP7 | c.2031C>G (p.Leu677=) c.1947C>G (p.Leu649=) c.2115C>G (p.Leu705=) c.689G>C (p.Ter230Ser) n.2549C>G | dbSNP gnomAD v4 |
19 | g.54938142G= | CA2343150178 | NCR1,NLRP7 | c.2031C= (p.Leu677=) c.1947C= (p.Leu649=) c.2115C= (p.Leu705=) c.689G= (p.Ter230=) n.2549C= | |
19 | g.54938142_54938143delinsGA | CA2343150177 | NCR1,NLRP7 | c.2030_2031delinsTC (p.Leu677=) c.1946_1947delinsTC (p.Leu649=) c.2114_2115delinsTC (p.Leu705=) c.689_690delinsGA (p.Ter230=) n.2548_2549delinsTC | |
19 | g.54938143del | CA213064 | NCR1,NLRP7 | c.2030del (p.Leu677ProfsTer6) c.1946del (p.Leu649ProfsTer6) c.2114del (p.Leu705ProfsTer6) c.690del (p.Ter230TrpextTer5) n.2548del | ClinVar dbSNP |
19 | g.54938143A>C | CA407860697 | NCR1,NLRP7 | c.2030T>G (p.Leu677Arg) c.1946T>G (p.Leu649Arg) c.2114T>G (p.Leu705Arg) c.690A>C (p.Ter230Cys) n.2548T>G | |
19 | g.54938143A>G | CA407860698 | NCR1,NLRP7 | c.2030T>C (p.Leu677Pro) c.1946T>C (p.Leu649Pro) c.2114T>C (p.Leu705Pro) c.690A>G (p.Ter230Trp) n.2548T>C | |
19 | g.54938143A>T | CA407860699 | NCR1,NLRP7 | c.2030T>A (p.Leu677His) c.1946T>A (p.Leu649His) c.2114T>A (p.Leu705His) c.690A>T (p.Ter230Cys) n.2548T>A | |
19 | g.54938144G>A | CA407860700 | NCR1,NLRP7 | c.2029C>T (p.Leu677Phe) c.1945C>T (p.Leu649Phe) c.2113C>T (p.Leu705Phe) c.*1G>A (n.*1G>A) n.2547C>T | |
19 | g.54938144G>C | CA310015961 | NCR1,NLRP7 | c.2029C>G (p.Leu677Val) c.1945C>G (p.Leu649Val) c.2113C>G (p.Leu705Val) c.*1G>C (n.*1G>C) n.2547C>G | dbSNP COSMIC COSMIC COSMIC |
19 | g.54938144G= | CA2343150179 | NCR1,NLRP7 | c.2029C= (p.Leu677=) c.1945C= (p.Leu649=) c.2113C= (p.Leu705=) c.*1G= (n.*1G=) n.2547C= | |
19 | g.54938144G>T | CA407860701 | NCR1,NLRP7 | c.2029C>A (p.Leu677Ile) c.1945C>A (p.Leu649Ile) c.2113C>A (p.Leu705Ile) c.*1G>T (n.*1G>T) n.2547C>A | |
19 | g.54938145G>A | CA310015966 | NCR1,NLRP7 | c.2028C>T (p.Asn676=) c.1944C>T (p.Asn648=) c.2112C>T (p.Asn704=) c.*2G>A (n.*2G>A) n.2546C>T | dbSNP gnomAD v4 |
19 | g.54938145G>C | CA407860702 | NCR1,NLRP7 | c.2028C>G (p.Asn676Lys) c.1944C>G (p.Asn648Lys) c.2112C>G (p.Asn704Lys) c.*2G>C (n.*2G>C) n.2546C>G | gnomAD v4 |
19 | g.54938145G= | CA2343150180 | NCR1,NLRP7 | c.2028C= (p.Asn676=) c.1944C= (p.Asn648=) c.2112C= (p.Asn704=) c.*2G= (n.*2G=) n.2546C= | |
19 | g.54938145G>T | CA310015972 | NCR1,NLRP7 | c.2028C>A (p.Asn676Lys) c.1944C>A (p.Asn648Lys) c.2112C>A (p.Asn704Lys) c.*2G>T (n.*2G>T) n.2546C>A | dbSNP gnomAD v4 |
19 | g.54938146T>A | CA407860705 | NCR1,NLRP7 | c.2027A>T (p.Asn676Ile) c.1943A>T (p.Asn648Ile) c.2111A>T (p.Asn704Ile) c.*3T>A (n.*3T>A) n.2545A>T | |
19 | g.54938146T>C | CA407860704 | NCR1,NLRP7 | c.2027A>G (p.Asn676Ser) c.1943A>G (p.Asn648Ser) c.2111A>G (p.Asn704Ser) c.*3T>C (n.*3T>C) n.2545A>G | gnomAD v4 |
19 | g.54938146T>G | CA407860703 | NCR1,NLRP7 | c.2027A>C (p.Asn676Thr) c.1943A>C (p.Asn648Thr) c.2111A>C (p.Asn704Thr) c.*3T>G (n.*3T>G) n.2545A>C | |
19 | g.54938147T>A | CA407860706 | NCR1,NLRP7 | c.2026A>T (p.Asn676Tyr) c.1942A>T (p.Asn648Tyr) c.2110A>T (p.Asn704Tyr) c.*4T>A (n.*4T>A) n.2544A>T | |
19 | g.54938147T>C | CA407860708 | NCR1,NLRP7 | c.2026A>G (p.Asn676Asp) c.1942A>G (p.Asn648Asp) c.2110A>G (p.Asn704Asp) c.*4T>C (n.*4T>C) n.2544A>G | |
19 | g.54938147T>G | CA407860707 | NCR1,NLRP7 | c.2026A>C (p.Asn676His) c.1942A>C (p.Asn648His) c.2110A>C (p.Asn704His) c.*4T>G (n.*4T>G) n.2544A>C | |
19 | g.54938148G>A | CA310015980 | NCR1,NLRP7 | c.2025C>T (p.Ser675=) c.1941C>T (p.Ser647=) c.2109C>T (p.Ser703=) c.*5G>A (n.*5G>A) n.2543C>T | dbSNP gnomAD v4 |
19 | g.54938148G>C | CA407860709 | NCR1,NLRP7 | c.2025C>G (p.Ser675Arg) c.1941C>G (p.Ser647Arg) c.2109C>G (p.Ser703Arg) c.*5G>C (n.*5G>C) n.2543C>G | |
19 | g.54938148G= | CA2343150181 | NCR1,NLRP7 | c.2025C= (p.Ser675=) c.1941C= (p.Ser647=) c.2109C= (p.Ser703=) c.*5G= (n.*5G=) n.2543C= | |
19 | g.54938148G>T | CA407860710 | NCR1,NLRP7 | c.2025C>A (p.Ser675Arg) c.1941C>A (p.Ser647Arg) c.2109C>A (p.Ser703Arg) c.*5G>T (n.*5G>T) n.2543C>A | |
19 | g.54938152_54938160del | CA883690331 | NCR1,NLRP7 | c.2017_2025del (p.Ser673_Ser675del) c.1933_1941del c.2101_2109del (p.Ser701_Ser703del) c.*9_*17del (n.*9_*17del) n.2535_2543del | gnomAD v4 |
19 | g.54938149C>A | CA407860711 | NCR1,NLRP7 | c.2024G>T (p.Ser675Ile) c.1940G>T (p.Ser647Ile) c.2108G>T (p.Ser703Ile) c.*6C>A (n.*6C>A) n.2542G>T | |
19 | g.54938149C= | CA2343150182 | NCR1,NLRP7 | c.2024G= (p.Ser675=) c.1940G= (p.Ser647=) c.2108G= (p.Ser703=) c.*6C= (n.*6C=) n.2542G= | |
19 | g.54938149C>G | CA310015982 | NCR1,NLRP7 | c.2024G>C (p.Ser675Thr) c.1940G>C (p.Ser647Thr) c.2108G>C (p.Ser703Thr) c.*6C>G (n.*6C>G) n.2542G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938149C>T | CA407860712 | NCR1,NLRP7 | c.2024G>A (p.Ser675Asn) c.1940G>A (p.Ser647Asn) c.2108G>A (p.Ser703Asn) c.*6C>T (n.*6C>T) n.2542G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938150T>A | CA407860713 | NCR1,NLRP7 | c.2023A>T (p.Ser675Cys) c.1939A>T (p.Ser647Cys) c.2107A>T (p.Ser703Cys) c.*7T>A (n.*7T>A) n.2541A>T | |
19 | g.54938150T>C | CA310015990 | NCR1,NLRP7 | c.2023A>G (p.Ser675Gly) c.1939A>G (p.Ser647Gly) c.2107A>G (p.Ser703Gly) c.*7T>C (n.*7T>C) n.2541A>G | dbSNP gnomAD v4 |
19 | g.54938150T>G | CA407860714 | NCR1,NLRP7 | c.2023A>C (p.Ser675Arg) c.1939A>C (p.Ser647Arg) c.2107A>C (p.Ser703Arg) c.*7T>G (n.*7T>G) n.2541A>C | |
19 | g.54938150T= | CA2343150183 | NCR1,NLRP7 | c.2023A= (p.Ser675=) c.1939A= (p.Ser647=) c.2107A= (p.Ser703=) c.*7T= (n.*7T=) n.2541A= | |
19 | g.54938151G>A | CA310015996 | NCR1,NLRP7 | c.2022C>T (p.Asn674=) c.1938C>T (p.Asn646=) c.2106C>T (p.Asn702=) c.*8G>A (n.*8G>A) n.2540C>T | dbSNP |
19 | g.54938151G>C | CA310016006 | NCR1,NLRP7 | c.2022C>G (p.Asn674Lys) c.1938C>G (p.Asn646Lys) c.2106C>G (p.Asn702Lys) c.*8G>C (n.*8G>C) n.2540C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938151G= | CA2343150184 | NCR1,NLRP7 | c.2022C= (p.Asn674=) c.1938C= (p.Asn646=) c.2106C= (p.Asn702=) c.*8G= (n.*8G=) n.2540C= | |
19 | g.54938151G>T | CA407860715 | NCR1,NLRP7 | c.2022C>A (p.Asn674Lys) c.1938C>A (p.Asn646Lys) c.2106C>A (p.Asn702Lys) c.*8G>T (n.*8G>T) n.2540C>A | |
19 | g.54938152T>A | CA310016012 | NCR1,NLRP7 | c.2021A>T (p.Asn674Ile) c.1937A>T (p.Asn646Ile) c.2105A>T (p.Asn702Ile) c.*9T>A (n.*9T>A) n.2539A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938152T>C | CA407860717 | NCR1,NLRP7 | c.2021A>G (p.Asn674Ser) c.1937A>G (p.Asn646Ser) c.2105A>G (p.Asn702Ser) c.*9T>C (n.*9T>C) n.2539A>G | |
19 | g.54938152T>G | CA407860716 | NCR1,NLRP7 | c.2021A>C (p.Asn674Thr) c.1937A>C (p.Asn646Thr) c.2105A>C (p.Asn702Thr) c.*9T>G (n.*9T>G) n.2539A>C | |
19 | g.54938152T= | CA2343150185 | NCR1,NLRP7 | c.2021A= (p.Asn674=) c.1937A= (p.Asn646=) c.2105A= (p.Asn702=) c.*9T= (n.*9T=) n.2539A= | |
19 | g.54938153T>A | CA407860718 | NCR1,NLRP7 | c.2020A>T (p.Asn674Tyr) c.1936A>T (p.Asn646Tyr) c.2104A>T (p.Asn702Tyr) c.*10T>A (n.*10T>A) n.2538A>T | |
19 | g.54938153T>C | CA407860719 | NCR1,NLRP7 | c.2020A>G (p.Asn674Asp) c.1936A>G (p.Asn646Asp) c.2104A>G (p.Asn702Asp) c.*10T>C (n.*10T>C) n.2538A>G | |
19 | g.54938153T>G | CA407860720 | NCR1,NLRP7 | c.2020A>C (p.Asn674His) c.1936A>C (p.Asn646His) c.2104A>C (p.Asn702His) c.*10T>G (n.*10T>G) n.2538A>C | |
19 | g.54938154T>A | CA310016018 | NCR1,NLRP7 | c.2019A>T (p.Ser673=) c.1935A>T (p.Ser645=) c.2103A>T (p.Ser701=) c.*11T>A (n.*11T>A) n.2537A>T | dbSNP |
19 | g.54938154T>G | CA310016040 | NCR1,NLRP7 | c.2019A>C (p.Ser673=) c.1935A>C (p.Ser645=) c.2103A>C (p.Ser701=) c.*11T>G (n.*11T>G) n.2537A>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.54938154T= | CA2343150186 | NCR1,NLRP7 | c.2019A= (p.Ser673=) c.1935A= (p.Ser645=) c.2103A= (p.Ser701=) c.*11T= (n.*11T=) n.2537A= |