Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.54937811_54942169dupCA407860473NLRP7c.-39-386_2129+266dup
c.-39-386_2045+266dup
c.46-386_2213+266dup
n.480-386_2647+266dup
 ClinVar
19g.54938050T>ACA407860496NCR1,NLRP7c.2123A>T (p.Lys708Ile)
c.2039A>T (p.Lys680Ile)
c.2207A>T (p.Lys736Ile)
c.683-86T>A (n.683-86T>A)
n.2641A>T
19g.54938050T>CCA407860495NCR1,NLRP7c.2123A>G (p.Lys708Arg)
c.2039A>G (p.Lys680Arg)
c.2207A>G (p.Lys736Arg)
c.683-86T>C (n.683-86T>C)
n.2641A>G
19g.54938050T>GCA407860494NCR1,NLRP7c.2123A>C (p.Lys708Thr)
c.2039A>C (p.Lys680Thr)
c.2207A>C (p.Lys736Thr)
c.683-86T>G (n.683-86T>G)
n.2641A>C
19g.54938051T>ACA407860497NCR1,NLRP7c.2122A>T (p.Lys708Ter)
c.2038A>T (p.Lys680Ter)
c.2206A>T (p.Lys736Ter)
c.683-85T>A (n.683-85T>A)
n.2640A>T
19g.54938051T>CCA407860498NCR1,NLRP7c.2122A>G (p.Lys708Glu)
c.2038A>G (p.Lys680Glu)
c.2206A>G (p.Lys736Glu)
c.683-85T>C (n.683-85T>C)
n.2640A>G
19g.54938051T>GCA407860499NCR1,NLRP7c.2122A>C (p.Lys708Gln)
c.2038A>C (p.Lys680Gln)
c.2206A>C (p.Lys736Gln)
c.683-85T>G (n.683-85T>G)
n.2640A>C
19g.54938052C>ACA407860500NCR1,NLRP7c.2121G>T (p.Gln707His)
c.2037G>T (p.Gln679His)
c.2205G>T (p.Gln735His)
c.683-84C>A (n.683-84C>A)
n.2639G>T
19g.54938052C>GCA407860501NCR1,NLRP7c.2121G>C (p.Gln707His)
c.2037G>C (p.Gln679His)
c.2205G>C (p.Gln735His)
c.683-84C>G (n.683-84C>G)
n.2639G>C
19g.54938053T>ACA407860502NCR1,NLRP7c.2120A>T (p.Gln707Leu)
c.2036A>T (p.Gln679Leu)
c.2204A>T (p.Gln735Leu)
c.683-83T>A (n.683-83T>A)
n.2638A>T
 gnomAD v4
19g.54938053T>CCA407860503NCR1,NLRP7c.2120A>G (p.Gln707Arg)
c.2036A>G (p.Gln679Arg)
c.2204A>G (p.Gln735Arg)
c.683-83T>C (n.683-83T>C)
n.2638A>G
19g.54938053T>GCA407860504NCR1,NLRP7c.2120A>C (p.Gln707Pro)
c.2036A>C (p.Gln679Pro)
c.2204A>C (p.Gln735Pro)
c.683-83T>G (n.683-83T>G)
n.2638A>C
19g.54938054G>ACA407860505NCR1,NLRP7c.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
19g.54938054G>CCA407860506NCR1,NLRP7c.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
19g.54938054G>TCA407860507NCR1,NLRP7c.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
19g.54938056A>CCA407860510NCR1,NLRP7c.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
19g.54938056A>GCA407860509NCR1,NLRP7c.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
19g.54938056A>TCA407860508NCR1,NLRP7c.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
19g.54938057G>ACA645620163NCR1,NLRP7c.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
19g.54938057G>CCA407860511NCR1,NLRP7c.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
19g.54938057G=CA2343150144NCR1,NLRP7c.2116C= (p.Leu706=)
c.2032C= (p.Leu678=)
c.2200C= (p.Leu734=)
c.683-79G= (n.683-79G=)
n.2634C=
19g.54938057G>TCA407860512NCR1,NLRP7c.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
19g.54938058A=CA2343150145NCR1,NLRP7c.2115T= (p.His705=)
c.2031T= (p.His677=)
c.2199T= (p.His733=)
c.683-78A= (n.683-78A=)
n.2633T=
19g.54938058A>CCA407860513NCR1,NLRP7c.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
19g.54938058A>GCA883690127NCR1,NLRP7c.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
19g.54938058A>TCA407860514NCR1,NLRP7c.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
19g.54938059T>ACA407860515NCR1,NLRP7c.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
19g.54938059T>CCA407860516NCR1,NLRP7c.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
19g.54938059T>GCA407860517NCR1,NLRP7c.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
19g.54938059T=CA2343150146NCR1,NLRP7c.2114A= (p.His705=)
c.2030A= (p.His677=)
c.2198A= (p.His733=)
c.683-77T= (n.683-77T=)
n.2632A=
19g.54938060G>ACA407860518NCR1,NLRP7c.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
19g.54938060G>CCA407860519NCR1,NLRP7c.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
19g.54938060G>TCA407860520NCR1,NLRP7c.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
19g.54938061A>CCA407860521NCR1,NLRP7c.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
19g.54938061A>GCA2587198098NCR1,NLRP7c.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
19g.54938061A>TCA407860522NCR1,NLRP7c.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
19g.54938062C>ACA407860525NCR1,NLRP7c.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
19g.54938062C>GCA407860523NCR1,NLRP7c.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
19g.54938062C>TCA407860524NCR1,NLRP7c.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
19g.54938063A>CCA407860526NCR1,NLRP7c.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
19g.54938063A>GCA407860527NCR1,NLRP7c.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
19g.54938063A>TCA407860528NCR1,NLRP7c.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
19g.54938064G>ACA645620164NCR1,NLRP7c.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
19g.54938064G=CA2343150147NCR1,NLRP7c.2109C= (p.Thr703=)
c.2025C= (p.Thr675=)
c.2193C= (p.Thr731=)
c.683-72G= (n.683-72G=)
n.2627C=
19g.54938064G>TCA2587198099NCR1,NLRP7c.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
19g.54938065G>ACA407860529NCR1,NLRP7c.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
19g.54938065G>CCA407860530NCR1,NLRP7c.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
19g.54938065G>TCA407860531NCR1,NLRP7c.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
19g.54938066T>ACA407860532NCR1,NLRP7c.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
19g.54938066T>CCA407860533NCR1,NLRP7c.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
19g.54938066T>GCA407860534NCR1,NLRP7c.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
19g.54938066T=CA2343150148NCR1,NLRP7c.2107A= (p.Thr703=)
c.2023A= (p.Thr675=)
c.2191A= (p.Thr731=)
c.683-70T= (n.683-70T=)
n.2625A=
19g.54938067G>CCA407860535NCR1,NLRP7c.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
19g.54938067G>TCA407860536NCR1,NLRP7c.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
19g.54938068C>ACA407860537NCR1,NLRP7c.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
19g.54938068C=CA2343150149NCR1,NLRP7c.2105G= (p.Ser702=)
c.2021G= (p.Ser674=)
c.2189G= (p.Ser730=)
c.683-68C= (n.683-68C=)
n.2623G=
19g.54938068C>GCA310015819NCR1,NLRP7c.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
19g.54938068C>TCA310015826NCR1,NLRP7c.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
19g.54938069T>ACA407860538NCR1,NLRP7c.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
19g.54938069T>CCA407860540NCR1,NLRP7c.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
19g.54938069T>GCA407860539NCR1,NLRP7c.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
19g.54938071C>ACA407860541NCR1,NLRP7c.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
19g.54938071C=CA2343150150NCR1,NLRP7c.2102G= (p.Arg701=)
c.2018G= (p.Arg673=)
c.2186G= (p.Arg729=)
c.683-65C= (n.683-65C=)
n.2620G=
19g.54938071C>GCA407860542NCR1,NLRP7c.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
19g.54938071C>TCA310015840NCR1,NLRP7c.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
19g.54938072G>ACA149994NCR1,NLRP7c.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
19g.54938072G>CCA407860543NCR1,NLRP7c.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
19g.54938072G=CA2343150151NCR1,NLRP7c.2101C= (p.Arg701=)
c.2017C= (p.Arg673=)
c.2185C= (p.Arg729=)
c.683-64G= (n.683-64G=)
n.2619C=
19g.54938072G>TCA407860544NCR1,NLRP7c.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
19g.54938073G=CA2343150152NCR1,NLRP7c.2100C= (p.Thr700=)
c.2016C= (p.Thr672=)
c.2184C= (p.Thr728=)
c.683-63G= (n.683-63G=)
n.2618C=
19g.54938073G>TCA310015853NCR1,NLRP7c.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
19g.54938074G>ACA407860545NCR1,NLRP7c.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
19g.54938074G>CCA407860546NCR1,NLRP7c.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
19g.54938074G=CA2343150153NCR1,NLRP7c.2099C= (p.Thr700=)
c.2015C= (p.Thr672=)
c.2183C= (p.Thr728=)
c.683-62G= (n.683-62G=)
n.2617C=
19g.54938074G>TCA407860547NCR1,NLRP7c.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
19g.54938075T>ACA407860550NCR1,NLRP7c.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
19g.54938075T>CCA407860549NCR1,NLRP7c.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
19g.54938075T>GCA407860548NCR1,NLRP7c.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
19g.54938077A>CCA407860551NCR1,NLRP7c.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
19g.54938077A>GCA407860552NCR1,NLRP7c.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
19g.54938077A>TCA407860553NCR1,NLRP7c.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
19g.54938078C>ACA407860554NCR1,NLRP7c.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
19g.54938078C=CA2343150154NCR1,NLRP7c.2095G= (p.Val699=)
c.2011G= (p.Val671=)
c.2179G= (p.Val727=)
c.683-58C= (n.683-58C=)
n.2613G=
19g.54938078C>GCA407860555NCR1,NLRP7c.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
19g.54938078C>TCA149991NCR1,NLRP7c.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
19g.54938079G>ACA149988NCR1,NLRP7c.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
19g.54938079G>CCA407860556NCR1,NLRP7c.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
19g.54938079G=CA2343150155NCR1,NLRP7c.2094C= (p.His698=)
c.2010C= (p.His670=)
c.2178C= (p.His726=)
c.683-57G= (n.683-57G=)
n.2612C=
19g.54938079G>TCA407860557NCR1,NLRP7c.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
19g.54938080T>ACA407860558NCR1,NLRP7c.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
19g.54938080T>CCA407860559NCR1,NLRP7c.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
19g.54938080T>GCA407860560NCR1,NLRP7c.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
19g.54938081G>ACA407860562NCR1,NLRP7c.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
19g.54938081G>CCA407860563NCR1,NLRP7c.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
19g.54938081G>TCA407860561NCR1,NLRP7c.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
19g.54938082delCA2587198100NCR1,NLRP7c.2092del (p.His698ThrfsTer2)
c.2008del (p.His670ThrfsTer2)
c.2176del (p.His726ThrfsTer2)
c.683-54del (n.683-54del)
n.2610del
 gnomAD v4
19g.54938082G>CCA310015860NCR1,NLRP7c.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
19g.54938082G=CA2343150156NCR1,NLRP7c.2091C= (p.Asp697=)
c.2007C= (p.Asp669=)
c.2175C= (p.Asp725=)
c.683-54G= (n.683-54G=)
n.2609C=
19g.54938082G>TCA407860564NCR1,NLRP7c.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
19g.54938083T>ACA407860565NCR1,NLRP7c.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
19g.54938083T>CCA407860566NCR1,NLRP7c.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
19g.54938083T>GCA407860567NCR1,NLRP7c.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
19g.54938086_54938113dupCA2587198101NCR1,NLRP7c.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
19g.54938084C>ACA407860568NCR1,NLRP7c.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
19g.54938084C>GCA407860569NCR1,NLRP7c.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
19g.54938084C>TCA407860570NCR1,NLRP7c.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
19g.54938085A>CCA407860571NCR1,NLRP7c.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
19g.54938085A>TCA407860572NCR1,NLRP7c.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
19g.54938086C>ACA407860573NCR1,NLRP7c.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
19g.54938086C>GCA407860574NCR1,NLRP7c.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
19g.54938086C>TCA407860575NCR1,NLRP7c.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
19g.54938087A>CCA407860578NCR1,NLRP7c.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
19g.54938087A>GCA407860577NCR1,NLRP7c.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
19g.54938087A>TCA407860576NCR1,NLRP7c.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
19g.54938089A>CCA407860579NCR1,NLRP7c.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
19g.54938089A>GCA407860580NCR1,NLRP7c.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
19g.54938089A>TCA407860581NCR1,NLRP7c.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
19g.54938090G>ACA310015861NCR1,NLRP7c.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
19g.54938090G>CCA407860582NCR1,NLRP7c.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
19g.54938090G=CA2343150157NCR1,NLRP7c.2083C= (p.Leu695=)
c.1999C= (p.Leu667=)
c.2167C= (p.Leu723=)
c.683-46G= (n.683-46G=)
n.2601C=
19g.54938090G>TCA407860583NCR1,NLRP7c.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
19g.54938091A>CCA407860584NCR1,NLRP7c.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
19g.54938092A>CCA407860585NCR1,NLRP7c.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
19g.54938092A>GCA407860586NCR1,NLRP7c.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
19g.54938092A>TCA407860587NCR1,NLRP7c.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
19g.54938093T>ACA407860588NCR1,NLRP7c.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
19g.54938093T>CCA407860589NCR1,NLRP7c.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
19g.54938093T>GCA407860590NCR1,NLRP7c.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
19g.54938094C>ACA310015876NCR1,NLRP7c.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
19g.54938094C=CA2343150158NCR1,NLRP7c.2079G= (p.Arg693=)
c.1995G= (p.Arg665=)
c.2163G= (p.Arg721=)
c.683-42C= (n.683-42C=)
n.2597G=
19g.54938094C>GCA310015867NCR1,NLRP7c.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
19g.54938095C>ACA310015880NCR1,NLRP7c.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
19g.54938095C=CA2343150159NCR1,NLRP7c.2078G= (p.Arg693=)
c.1994G= (p.Arg665=)
c.2162G= (p.Arg721=)
c.683-41C= (n.683-41C=)
n.2596G=
19g.54938095C>GCA115078NCR1,NLRP7c.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
19g.54938095C>TCA115087NCR1,NLRP7c.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
19g.54938096G>ACA115075NCR1,NLRP7c.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
19g.54938096G>CCA407860591NCR1,NLRP7c.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
19g.54938096G=CA2343150160NCR1,NLRP7c.2077C= (p.Arg693=)
c.1993C= (p.Arg665=)
c.2161C= (p.Arg721=)
c.683-40G= (n.683-40G=)
n.2595C=
19g.54938096G>TCA310015895NCR1,NLRP7c.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
19g.54938097C=CA2343150161NCR1,NLRP7c.2076G= (p.Val692=)
c.1992G= (p.Val664=)
c.2160G= (p.Val720=)
c.683-39C= (n.683-39C=)
n.2594G=
19g.54938097C>GCA2587198102NCR1,NLRP7c.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
19g.54938097C>TCA883690238NCR1,NLRP7c.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
19g.54938098A>CCA407860592NCR1,NLRP7c.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
19g.54938098A>GCA407860594NCR1,NLRP7c.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
19g.54938098A>TCA407860593NCR1,NLRP7c.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
19g.54938099C>ACA407860595NCR1,NLRP7c.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
19g.54938099C=CA2343150162NCR1,NLRP7c.2074G= (p.Val692=)
c.1990G= (p.Val664=)
c.2158G= (p.Val720=)
c.683-37C= (n.683-37C=)
n.2592G=
19g.54938099C>GCA407860597NCR1,NLRP7c.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
19g.54938099C>TCA407860596NCR1,NLRP7c.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
19g.54938100A=CA2343150163NCR1,NLRP7c.2073T= (p.Ser691=)
c.1989T= (p.Ser663=)
c.2157T= (p.Ser719=)
c.683-36A= (n.683-36A=)
n.2591T=
19g.54938100A>GCA883690242NCR1,NLRP7c.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
19g.54938101G>ACA407860598NCR1,NLRP7c.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
19g.54938101G>CCA407860599NCR1,NLRP7c.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
19g.54938101G>TCA407860600NCR1,NLRP7c.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
19g.54938102A>CCA407860601NCR1,NLRP7c.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
19g.54938102A>GCA407860602NCR1,NLRP7c.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
19g.54938102A>TCA407860603NCR1,NLRP7c.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
19g.54938102_54938104delinsAAGCA2343150164NCR1,NLRP7c.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
19g.54938103A=CA2343150165NCR1,NLRP7c.2070T= (p.Ser690=)
c.1986T= (p.Ser662=)
c.2154T= (p.Ser718=)
c.683-33A= (n.683-33A=)
n.2588T=
19g.54938103A>GCA310015903NCR1,NLRP7c.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
19g.54938105_54938106delCA883690248NCR1,NLRP7c.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
19g.54938104G>ACA407860604NCR1,NLRP7c.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
19g.54938104G>CCA407860605NCR1,NLRP7c.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
19g.54938104G>TCA407860606NCR1,NLRP7c.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
19g.54938105A=CA2343150166NCR1,NLRP7c.2068T= (p.Ser690=)
c.1984T= (p.Ser662=)
c.2152T= (p.Ser718=)
c.683-31A= (n.683-31A=)
n.2586T=
19g.54938105A>CCA407860609NCR1,NLRP7c.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
19g.54938105A>GCA407860608NCR1,NLRP7c.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
19g.54938105A>TCA407860607NCR1,NLRP7c.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
19g.54938106G>CCA407860610NCR1,NLRP7c.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
19g.54938106G>TCA407860611NCR1,NLRP7c.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
19g.54938107T>ACA407860612NCR1,NLRP7c.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
19g.54938107T>CCA407860613NCR1,NLRP7c.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
19g.54938107T>GCA407860614NCR1,NLRP7c.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
19g.54938108C>ACA407860615NCR1,NLRP7c.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
19g.54938108C>GCA407860616NCR1,NLRP7c.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
19g.54938108C>TCA407860617NCR1,NLRP7c.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
19g.54938109A=CA2343150167NCR1,NLRP7c.2064T= (p.Ser688=)
c.1980T= (p.Ser660=)
c.2148T= (p.Ser716=)
c.683-27A= (n.683-27A=)
n.2582T=
19g.54938109A>CCA407860618NCR1,NLRP7c.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
19g.54938109A>TCA407860619NCR1,NLRP7c.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
19g.54938110C>ACA407860622NCR1,NLRP7c.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
19g.54938110C>GCA407860621NCR1,NLRP7c.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
19g.54938110C>TCA407860620NCR1,NLRP7c.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
19g.54938111T>ACA407860623NCR1,NLRP7c.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
19g.54938111T>CCA407860624NCR1,NLRP7c.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
19g.54938111T>GCA407860625NCR1,NLRP7c.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
19g.54938112C>ACA2576889689NCR1,NLRP7c.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
19g.54938112C>TCA2587198103NCR1,NLRP7c.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
19g.54938113A=CA2343150168NCR1,NLRP7c.2060T= (p.Leu687=)
c.1976T= (p.Leu659=)
c.2144T= (p.Leu715=)
c.683-23A= (n.683-23A=)
n.2578T=
19g.54938113A>CCA407860626NCR1,NLRP7c.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
19g.54938113A>GCA407860627NCR1,NLRP7c.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
19g.54938113A>TCA407860628NCR1,NLRP7c.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
19g.54938114G>ACA2587198104NCR1,NLRP7c.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
19g.54938114G>CCA407860629NCR1,NLRP7c.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
19g.54938114G=CA2343150169NCR1,NLRP7c.2059C= (p.Leu687=)
c.1975C= (p.Leu659=)
c.2143C= (p.Leu715=)
c.683-22G= (n.683-22G=)
n.2577C=
19g.54938114G>TCA407860630NCR1,NLRP7c.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
19g.54938115dupCA997220254NCR1,NLRP7c.2059dup (p.Leu687ProfsTer3)
c.1975dup (p.Leu659ProfsTer3)
c.2143dup (p.Leu715ProfsTer3)
c.683-21dup (n.683-21dup)
n.2577dup
 dbSNP gnomAD v3 gnomAD v4
19g.54938115G>ACA645620165NCR1,NLRP7c.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
19g.54938115G>CCA407860631NCR1,NLRP7c.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
19g.54938115G>TCA407860632NCR1,NLRP7c.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
19g.54938116A>CCA407860633NCR1,NLRP7c.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
19g.54938116A>GCA407860634NCR1,NLRP7c.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
19g.54938116A>TCA407860635NCR1,NLRP7c.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
19g.54938117delCA2587198105NCR1,NLRP7c.2057del (p.Phe686SerfsTer2)
c.1973del (p.Phe658SerfsTer2)
c.2141del (p.Phe714SerfsTer2)
c.683-19del (n.683-19del)
n.2575del
 gnomAD v4
19g.54938117A=CA2343150170NCR1,NLRP7c.2056T= (p.Phe686=)
c.1972T= (p.Phe658=)
c.2140T= (p.Phe714=)
c.683-19A= (n.683-19A=)
n.2574T=
19g.54938117A>CCA407860636NCR1,NLRP7c.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
19g.54938117A>GCA407860638NCR1,NLRP7c.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
19g.54938117A>TCA407860637NCR1,NLRP7c.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
19g.54938118G>ACA2576889690NCR1,NLRP7c.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
19g.54938118G>CCA407860639NCR1,NLRP7c.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
19g.54938118G>TCA407860640NCR1,NLRP7c.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
19g.54938119C>ACA407860641NCR1,NLRP7c.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
19g.54938119C>GCA407860642NCR1,NLRP7c.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
19g.54938119C>TCA407860643NCR1,NLRP7c.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
19g.54938120T>ACA407860644NCR1,NLRP7c.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
19g.54938120T>CCA407860645NCR1,NLRP7c.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
19g.54938120T>GCA407860646NCR1,NLRP7c.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
19g.54938121T>ACA407860647NCR1,NLRP7c.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
19g.54938121T>GCA407860648NCR1,NLRP7c.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
19g.54938122T>ACA407860650NCR1,NLRP7c.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
19g.54938122T>CCA407860651NCR1,NLRP7c.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
19g.54938122T>GCA407860649NCR1,NLRP7c.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
19g.54938122T=CA2343150171NCR1,NLRP7c.2051A= (p.Gln684=)
c.1967A= (p.Gln656=)
c.2135A= (p.Gln712=)
c.683-14T= (n.683-14T=)
n.2569A=
19g.54938123G>ACA407860654NCR1,NLRP7c.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
19g.54938123G>CCA407860652NCR1,NLRP7c.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
19g.54938123G>TCA407860653NCR1,NLRP7c.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
19g.54938124T>ACA407860655NCR1,NLRP7c.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
19g.54938124T>CCA645620166NCR1,NLRP7c.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
19g.54938124T>GCA407860656NCR1,NLRP7c.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
19g.54938125T>ACA407860657NCR1,NLRP7c.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
19g.54938125T>CCA407860658NCR1,NLRP7c.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
19g.54938125T>GCA407860659NCR1,NLRP7c.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
19g.54938126T>ACA407860660NCR1,NLRP7c.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
19g.54938126T>CCA310015906NCR1,NLRP7c.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
19g.54938126T>GCA407860661NCR1,NLRP7c.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
19g.54938126T=CA2343150172NCR1,NLRP7c.2047A= (p.Lys683=)
c.1963A= (p.Lys655=)
c.2131A= (p.Lys711=)
c.683-10T= (n.683-10T=)
n.2565A=
19g.54938127C=CA2343150173NCR1,NLRP7c.2046G= (p.Val682=)
c.1962G= (p.Val654=)
c.2130G= (p.Val710=)
c.683-9C= (n.683-9C=)
n.2564G=
19g.54938127C>TCA310015914NCR1,NLRP7c.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
19g.54938128A>CCA407860662NCR1,NLRP7c.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
19g.54938128A>GCA407860663NCR1,NLRP7c.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
19g.54938128A>TCA407860664NCR1,NLRP7c.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
19g.54938129C>ACA407860665NCR1,NLRP7c.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
19g.54938129C>GCA407860667NCR1,NLRP7c.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
19g.54938129C>TCA407860666NCR1,NLRP7c.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
19g.54938130T>ACA407860668NCR1,NLRP7c.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
19g.54938130T>CCA2587198106NCR1,NLRP7c.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
19g.54938130T>GCA407860669NCR1,NLRP7c.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
19g.54938131T>ACA407860670NCR1,NLRP7c.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
19g.54938131T>CCA407860671NCR1,NLRP7c.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
19g.54938131T>GCA407860672NCR1,NLRP7c.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
19g.54938132C>ACA407860673NCR1,NLRP7c.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
19g.54938132C>GCA407860674NCR1,NLRP7c.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
19g.54938132C>TCA407860675NCR1,NLRP7c.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
19g.54938134A=CA2343150174NCR1,NLRP7c.2039T= (p.Leu680=)
c.1955T= (p.Leu652=)
c.2123T= (p.Leu708=)
c.683-2A= (n.683-2A=)
n.2557T=
19g.54938134A>CCA407860676NCR1,NLRP7c.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
19g.54938134A>GCA407860677NCR1,NLRP7c.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
19g.54938134A>TCA407860678NCR1,NLRP7c.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
19g.54938135G>CCA407860680NCR1,NLRP7c.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
19g.54938135G>TCA407860679NCR1,NLRP7c.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
19g.54938136A>CCA407860681NCR1,NLRP7c.2037T>G (p.Phe679Leu)
c.1953T>G (p.Phe651Leu)
c.2121T>G (p.Phe707Leu)
c.683A>C (p.Glu228Ala)
n.2555T>G
19g.54938136A>GCA645620167NCR1,NLRP7c.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
19g.54938136A>TCA407860682NCR1,NLRP7c.2037T>A (p.Phe679Leu)
c.1953T>A (p.Phe651Leu)
c.2121T>A (p.Phe707Leu)
c.683A>T (p.Glu228Val)
n.2555T>A
19g.54938137A>CCA407860683NCR1,NLRP7c.2036T>G (p.Phe679Cys)
c.1952T>G (p.Phe651Cys)
c.2120T>G (p.Phe707Cys)
c.684A>C (p.Glu228Asp)
n.2554T>G
19g.54938137A>GCA407860684NCR1,NLRP7c.2036T>C (p.Phe679Ser)
c.1952T>C (p.Phe651Ser)
c.2120T>C (p.Phe707Ser)
c.684A>G (p.Glu228=)
n.2554T>C
19g.54938137A>TCA407860685NCR1,NLRP7c.2036T>A (p.Phe679Tyr)
c.1952T>A (p.Phe651Tyr)
c.2120T>A (p.Phe707Tyr)
c.684A>T (p.Glu228Asp)
n.2554T>A
19g.54938138A>CCA407860686NCR1,NLRP7c.2035T>G (p.Phe679Val)
c.1951T>G (p.Phe651Val)
c.2119T>G (p.Phe707Val)
c.685A>C (p.Thr229Pro)
n.2553T>G
19g.54938138A>GCA407860687NCR1,NLRP7c.2035T>C (p.Phe679Leu)
c.1951T>C (p.Phe651Leu)
c.2119T>C (p.Phe707Leu)
c.685A>G (p.Thr229Ala)
n.2553T>C
19g.54938138A>TCA407860688NCR1,NLRP7c.2035T>A (p.Phe679Ile)
c.1951T>A (p.Phe651Ile)
c.2119T>A (p.Phe707Ile)
c.685A>T (p.Thr229Ser)
n.2553T>A
19g.54938139C>ACA407860689NCR1,NLRP7c.2034G>T (p.Lys678Asn)
c.1950G>T (p.Lys650Asn)
c.2118G>T (p.Lys706Asn)
c.686C>A (p.Thr229Asn)
n.2552G>T
19g.54938139C=CA2343150175NCR1,NLRP7c.2034G= (p.Lys678=)
c.1950G= (p.Lys650=)
c.2118G= (p.Lys706=)
c.686C= (p.Thr229=)
n.2552G=
19g.54938139C>GCA407860690NCR1,NLRP7c.2034G>C (p.Lys678Asn)
c.1950G>C (p.Lys650Asn)
c.2118G>C (p.Lys706Asn)
c.686C>G (p.Thr229Ser)
n.2552G>C
19g.54938139C>TCA310015920NCR1,NLRP7c.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
19g.54938140T>ACA407860691NCR1,NLRP7c.2033A>T (p.Lys678Met)
c.1949A>T (p.Lys650Met)
c.2117A>T (p.Lys706Met)
c.687T>A (p.Thr229=)
n.2551A>T
19g.54938140T>CCA407860692NCR1,NLRP7c.2033A>G (p.Lys678Arg)
c.1949A>G (p.Lys650Arg)
c.2117A>G (p.Lys706Arg)
c.687T>C (p.Thr229=)
n.2551A>G
 gnomAD v4
19g.54938140T>GCA407860693NCR1,NLRP7c.2033A>C (p.Lys678Thr)
c.1949A>C (p.Lys650Thr)
c.2117A>C (p.Lys706Thr)
c.687T>G (p.Thr229=)
n.2551A>C
19g.54938141delCA2587198107NCR1,NLRP7c.2033del (p.Lys678SerfsTer5)
c.1949del (p.Lys650SerfsTer5)
c.2117del (p.Lys706SerfsTer5)
c.688del (p.Ter230GluextTer5)
n.2551del
 gnomAD v4
19g.54938141T>ACA407860696NCR1,NLRP7c.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
19g.54938141T>CCA407860695NCR1,NLRP7c.2032A>G (p.Lys678Glu)
c.1948A>G (p.Lys650Glu)
c.2116A>G (p.Lys706Glu)
c.688T>C (p.Ter230Arg)
n.2550A>G
19g.54938141T>GCA407860694NCR1,NLRP7c.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
19g.54938141T=CA2343150176NCR1,NLRP7c.2032A= (p.Lys678=)
c.1948A= (p.Lys650=)
c.2116A= (p.Lys706=)
c.688T= (p.Ter230=)
n.2550A=
19g.54938142G>ACA310015938NCR1,NLRP7c.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
19g.54938142G>CCA310015939NCR1,NLRP7c.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
19g.54938142G=CA2343150178NCR1,NLRP7c.2031C= (p.Leu677=)
c.1947C= (p.Leu649=)
c.2115C= (p.Leu705=)
c.689G= (p.Ter230=)
n.2549C=
19g.54938142_54938143delinsGACA2343150177NCR1,NLRP7c.2030_2031delinsTC (p.Leu677=)
c.1946_1947delinsTC (p.Leu649=)
c.2114_2115delinsTC (p.Leu705=)
c.689_690delinsGA (p.Ter230=)
n.2548_2549delinsTC
19g.54938143delCA213064NCR1,NLRP7c.2030del (p.Leu677ProfsTer6)
c.1946del (p.Leu649ProfsTer6)
c.2114del (p.Leu705ProfsTer6)
c.690del (p.Ter230TrpextTer5)
n.2548del
 ClinVar dbSNP
19g.54938143A>CCA407860697NCR1,NLRP7c.2030T>G (p.Leu677Arg)
c.1946T>G (p.Leu649Arg)
c.2114T>G (p.Leu705Arg)
c.690A>C (p.Ter230Cys)
n.2548T>G
19g.54938143A>GCA407860698NCR1,NLRP7c.2030T>C (p.Leu677Pro)
c.1946T>C (p.Leu649Pro)
c.2114T>C (p.Leu705Pro)
c.690A>G (p.Ter230Trp)
n.2548T>C
19g.54938143A>TCA407860699NCR1,NLRP7c.2030T>A (p.Leu677His)
c.1946T>A (p.Leu649His)
c.2114T>A (p.Leu705His)
c.690A>T (p.Ter230Cys)
n.2548T>A
19g.54938144G>ACA407860700NCR1,NLRP7c.2029C>T (p.Leu677Phe)
c.1945C>T (p.Leu649Phe)
c.2113C>T (p.Leu705Phe)
c.*1G>A (n.*1G>A)
n.2547C>T
19g.54938144G>CCA310015961NCR1,NLRP7c.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
19g.54938144G=CA2343150179NCR1,NLRP7c.2029C= (p.Leu677=)
c.1945C= (p.Leu649=)
c.2113C= (p.Leu705=)
c.*1G= (n.*1G=)
n.2547C=
19g.54938144G>TCA407860701NCR1,NLRP7c.2029C>A (p.Leu677Ile)
c.1945C>A (p.Leu649Ile)
c.2113C>A (p.Leu705Ile)
c.*1G>T (n.*1G>T)
n.2547C>A
19g.54938145G>ACA310015966NCR1,NLRP7c.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
19g.54938145G>CCA407860702NCR1,NLRP7c.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
19g.54938145G=CA2343150180NCR1,NLRP7c.2028C= (p.Asn676=)
c.1944C= (p.Asn648=)
c.2112C= (p.Asn704=)
c.*2G= (n.*2G=)
n.2546C=
19g.54938145G>TCA310015972NCR1,NLRP7c.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
19g.54938146T>ACA407860705NCR1,NLRP7c.2027A>T (p.Asn676Ile)
c.1943A>T (p.Asn648Ile)
c.2111A>T (p.Asn704Ile)
c.*3T>A (n.*3T>A)
n.2545A>T
19g.54938146T>CCA407860704NCR1,NLRP7c.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
19g.54938146T>GCA407860703NCR1,NLRP7c.2027A>C (p.Asn676Thr)
c.1943A>C (p.Asn648Thr)
c.2111A>C (p.Asn704Thr)
c.*3T>G (n.*3T>G)
n.2545A>C
19g.54938147T>ACA407860706NCR1,NLRP7c.2026A>T (p.Asn676Tyr)
c.1942A>T (p.Asn648Tyr)
c.2110A>T (p.Asn704Tyr)
c.*4T>A (n.*4T>A)
n.2544A>T
19g.54938147T>CCA407860708NCR1,NLRP7c.2026A>G (p.Asn676Asp)
c.1942A>G (p.Asn648Asp)
c.2110A>G (p.Asn704Asp)
c.*4T>C (n.*4T>C)
n.2544A>G
19g.54938147T>GCA407860707NCR1,NLRP7c.2026A>C (p.Asn676His)
c.1942A>C (p.Asn648His)
c.2110A>C (p.Asn704His)
c.*4T>G (n.*4T>G)
n.2544A>C
19g.54938148G>ACA310015980NCR1,NLRP7c.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
19g.54938148G>CCA407860709NCR1,NLRP7c.2025C>G (p.Ser675Arg)
c.1941C>G (p.Ser647Arg)
c.2109C>G (p.Ser703Arg)
c.*5G>C (n.*5G>C)
n.2543C>G
19g.54938148G=CA2343150181NCR1,NLRP7c.2025C= (p.Ser675=)
c.1941C= (p.Ser647=)
c.2109C= (p.Ser703=)
c.*5G= (n.*5G=)
n.2543C=
19g.54938148G>TCA407860710NCR1,NLRP7c.2025C>A (p.Ser675Arg)
c.1941C>A (p.Ser647Arg)
c.2109C>A (p.Ser703Arg)
c.*5G>T (n.*5G>T)
n.2543C>A
19g.54938152_54938160delCA883690331NCR1,NLRP7c.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
19g.54938149C>ACA407860711NCR1,NLRP7c.2024G>T (p.Ser675Ile)
c.1940G>T (p.Ser647Ile)
c.2108G>T (p.Ser703Ile)
c.*6C>A (n.*6C>A)
n.2542G>T
19g.54938149C=CA2343150182NCR1,NLRP7c.2024G= (p.Ser675=)
c.1940G= (p.Ser647=)
c.2108G= (p.Ser703=)
c.*6C= (n.*6C=)
n.2542G=
19g.54938149C>GCA310015982NCR1,NLRP7c.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
19g.54938149C>TCA407860712NCR1,NLRP7c.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
19g.54938150T>ACA407860713NCR1,NLRP7c.2023A>T (p.Ser675Cys)
c.1939A>T (p.Ser647Cys)
c.2107A>T (p.Ser703Cys)
c.*7T>A (n.*7T>A)
n.2541A>T
19g.54938150T>CCA310015990NCR1,NLRP7c.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
19g.54938150T>GCA407860714NCR1,NLRP7c.2023A>C (p.Ser675Arg)
c.1939A>C (p.Ser647Arg)
c.2107A>C (p.Ser703Arg)
c.*7T>G (n.*7T>G)
n.2541A>C
19g.54938150T=CA2343150183NCR1,NLRP7c.2023A= (p.Ser675=)
c.1939A= (p.Ser647=)
c.2107A= (p.Ser703=)
c.*7T= (n.*7T=)
n.2541A=

Number of alleles fetched