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.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=
19g.54938151G>ACA310015996NCR1,NLRP7c.2022C>T (p.Asn674=)
c.1938C>T (p.Asn646=)
c.2106C>T (p.Asn702=)
c.*8G>A (n.*8G>A)
n.2540C>T
 dbSNP
19g.54938151G>CCA310016006NCR1,NLRP7c.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
19g.54938151G=CA2343150184NCR1,NLRP7c.2022C= (p.Asn674=)
c.1938C= (p.Asn646=)
c.2106C= (p.Asn702=)
c.*8G= (n.*8G=)
n.2540C=
19g.54938151G>TCA407860715NCR1,NLRP7c.2022C>A (p.Asn674Lys)
c.1938C>A (p.Asn646Lys)
c.2106C>A (p.Asn702Lys)
c.*8G>T (n.*8G>T)
n.2540C>A
19g.54938152T>ACA310016012NCR1,NLRP7c.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
19g.54938152T>CCA407860717NCR1,NLRP7c.2021A>G (p.Asn674Ser)
c.1937A>G (p.Asn646Ser)
c.2105A>G (p.Asn702Ser)
c.*9T>C (n.*9T>C)
n.2539A>G
19g.54938152T>GCA407860716NCR1,NLRP7c.2021A>C (p.Asn674Thr)
c.1937A>C (p.Asn646Thr)
c.2105A>C (p.Asn702Thr)
c.*9T>G (n.*9T>G)
n.2539A>C
19g.54938152T=CA2343150185NCR1,NLRP7c.2021A= (p.Asn674=)
c.1937A= (p.Asn646=)
c.2105A= (p.Asn702=)
c.*9T= (n.*9T=)
n.2539A=
19g.54938153T>ACA407860718NCR1,NLRP7c.2020A>T (p.Asn674Tyr)
c.1936A>T (p.Asn646Tyr)
c.2104A>T (p.Asn702Tyr)
c.*10T>A (n.*10T>A)
n.2538A>T
19g.54938153T>CCA407860719NCR1,NLRP7c.2020A>G (p.Asn674Asp)
c.1936A>G (p.Asn646Asp)
c.2104A>G (p.Asn702Asp)
c.*10T>C (n.*10T>C)
n.2538A>G
19g.54938153T>GCA407860720NCR1,NLRP7c.2020A>C (p.Asn674His)
c.1936A>C (p.Asn646His)
c.2104A>C (p.Asn702His)
c.*10T>G (n.*10T>G)
n.2538A>C
19g.54938154T>ACA310016018NCR1,NLRP7c.2019A>T (p.Ser673=)
c.1935A>T (p.Ser645=)
c.2103A>T (p.Ser701=)
c.*11T>A (n.*11T>A)
n.2537A>T
 dbSNP
19g.54938154T>GCA310016040NCR1,NLRP7c.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
19g.54938154T=CA2343150186NCR1,NLRP7c.2019A= (p.Ser673=)
c.1935A= (p.Ser645=)
c.2103A= (p.Ser701=)
c.*11T= (n.*11T=)
n.2537A=
19g.54938155G>ACA407860721NCR1,NLRP7c.2018C>T (p.Ser673Leu)
c.1934C>T (p.Ser645Leu)
c.2102C>T (p.Ser701Leu)
c.*12G>A (n.*12G>A)
n.2536C>T
19g.54938155G>CCA149985NCR1,NLRP7c.2018C>G (p.Ser673Ter)
c.1934C>G (p.Ser645Ter)
c.2102C>G (p.Ser701Ter)
c.*12G>C (n.*12G>C)
n.2536C>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
19g.54938155G=CA2343150187NCR1,NLRP7c.2018C= (p.Ser673=)
c.1934C= (p.Ser645=)
c.2102C= (p.Ser701=)
c.*12G= (n.*12G=)
n.2536C=
19g.54938155G>TCA407860722NCR1,NLRP7c.2018C>A (p.Ser673Ter)
c.1934C>A (p.Ser645Ter)
c.2102C>A (p.Ser701Ter)
c.*12G>T (n.*12G>T)
n.2536C>A
19g.54938156A>CCA407860723NCR1,NLRP7c.2017T>G (p.Ser673Ala)
c.1933T>G (p.Ser645Ala)
c.2101T>G (p.Ser701Ala)
c.*13A>C (n.*13A>C)
n.2535T>G
19g.54938156A>GCA407860724NCR1,NLRP7c.2017T>C (p.Ser673Pro)
c.1933T>C (p.Ser645Pro)
c.2101T>C (p.Ser701Pro)
c.*13A>G (n.*13A>G)
n.2535T>C
19g.54938156A>TCA407860725NCR1,NLRP7c.2017T>A (p.Ser673Thr)
c.1933T>A (p.Ser645Thr)
c.2101T>A (p.Ser701Thr)
c.*13A>T (n.*13A>T)
n.2535T>A
19g.54938157G>CCA407860726NCR1,NLRP7c.2016C>G (p.Ser672Arg)
c.1932C>G (p.Ser644Arg)
c.2100C>G (p.Ser700Arg)
c.*14G>C (n.*14G>C)
n.2534C>G
19g.54938157G>TCA407860727NCR1,NLRP7c.2016C>A (p.Ser672Arg)
c.1932C>A (p.Ser644Arg)
c.2100C>A (p.Ser700Arg)
c.*14G>T (n.*14G>T)
n.2534C>A
19g.54938158C>ACA407860729NCR1,NLRP7c.2015G>T (p.Ser672Ile)
c.1932-1G>T (n.1932-1G>T)
c.2099G>T (p.Ser700Ile)
c.*15C>A (n.*15C>A)
n.2533G>T
 gnomAD v4
19g.54938158C>GCA407860730NCR1,NLRP7c.2015G>C (p.Ser672Thr)
c.1932-1G>C (n.1932-1G>C)
c.2099G>C (p.Ser700Thr)
c.*15C>G (n.*15C>G)
n.2533G>C
19g.54938158C>TCA407860728NCR1,NLRP7c.2015G>A (p.Ser672Asn)
c.1932-1G>A (n.1932-1G>A)
c.2099G>A (p.Ser700Asn)
c.*15C>T (n.*15C>T)
n.2533G>A
 gnomAD v4
19g.54938159T>ACA407860731NCR1,NLRP7c.2014A>T (p.Ser672Cys)
c.1932-2A>T (n.1932-2A>T)
c.2098A>T (p.Ser700Cys)
c.*16T>A (n.*16T>A)
n.2532A>T
19g.54938159T>CCA407860732NCR1,NLRP7c.2014A>G (p.Ser672Gly)
c.1932-2A>G (n.1932-2A>G)
c.2098A>G (p.Ser700Gly)
c.*16T>C (n.*16T>C)
n.2532A>G
19g.54938159T>GCA407860733NCR1,NLRP7c.2014A>C (p.Ser672Arg)
c.1932-2A>C (n.1932-2A>C)
c.2098A>C (p.Ser700Arg)
c.*16T>G (n.*16T>G)
n.2532A>C
19g.54938160G>ACA310016044NCR1,NLRP7c.2013C>T (p.Phe671=)
c.1932-3C>T (n.1932-3C>T)
c.2097C>T (p.Phe699=)
c.*17G>A (n.*17G>A)
n.2531C>T
 dbSNP gnomAD v3 gnomAD v4
19g.54938160G>CCA407860734NCR1,NLRP7c.2013C>G (p.Phe671Leu)
c.1932-3C>G (n.1932-3C>G)
c.2097C>G (p.Phe699Leu)
c.*17G>C (n.*17G>C)
n.2531C>G
19g.54938160G=CA2343150188NCR1,NLRP7c.2013C= (p.Phe671=)
c.1932-3C= (n.1932-3C=)
c.2097C= (p.Phe699=)
c.*17G= (n.*17G=)
n.2531C=
19g.54938160G>TCA407860735NCR1,NLRP7c.2013C>A (p.Phe671Leu)
c.1932-3C>A (n.1932-3C>A)
c.2097C>A (p.Phe699Leu)
c.*17G>T (n.*17G>T)
n.2531C>A
 gnomAD v4
19g.54938160_54938162delinsGAACA2343150189NCR1,NLRP7c.2011_2013delinsTTC (p.Phe671=)
c.1932-5_1932-3delinsTTC (n.1932-5_1932-3delinsTTC)
c.2095_2097delinsTTC (p.Phe699=)
c.*17_*19delinsGAA (n.*17_*19delinsGAA)
n.2529_2531delinsTTC
19g.54938161A>CCA407860736NCR1,NLRP7c.2012T>G (p.Phe671Cys)
c.1932-4T>G (n.1932-4T>G)
c.2096T>G (p.Phe699Cys)
c.*18A>C (n.*18A>C)
n.2530T>G
19g.54938161A>GCA407860737NCR1,NLRP7c.2012T>C (p.Phe671Ser)
c.1932-4T>C (n.1932-4T>C)
c.2096T>C (p.Phe699Ser)
c.*18A>G (n.*18A>G)
n.2530T>C
19g.54938161A>TCA407860738NCR1,NLRP7c.2012T>A (p.Phe671Tyr)
c.1932-4T>A (n.1932-4T>A)
c.2096T>A (p.Phe699Tyr)
c.*18A>T (n.*18A>T)
n.2530T>A
19g.54938161_54938162delCA883690369NCR1,NLRP7c.2011_2012del (p.Phe671GlnfsTer18)
c.1932-5_1932-4del (n.1932-5_1932-4del)
c.2095_2096del (p.Phe699GlnfsTer18)
c.*18_*19del (n.*18_*19del)
n.2529_2530del
 dbSNP
19g.54938161_54938163delinsAAGCA2343150190NCR1,NLRP7c.2010_2012delinsCTT (p.Leu670=)
c.1932-6_1932-4delinsCTT (n.1932-6_1932-4delinsCTT)
c.2094_2096delinsCTT (p.Leu698=)
c.*18_*20delinsAAG (n.*18_*20delinsAAG)
n.2528_2530delinsCTT
19g.54938162A>CCA407860739NCR1,NLRP7c.2011T>G (p.Phe671Val)
c.1932-5T>G (n.1932-5T>G)
c.2095T>G (p.Phe699Val)
c.*19A>C (n.*19A>C)
n.2529T>G

Number of alleles fetched