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.54938043C>ACA407860477NCR1,NLRP7c.2129+1G>T (n.2129+1G>T)
c.2045+1G>T (n.2045+1G>T)
c.2213+1G>T (n.2213+1G>T)
c.683-93C>A (n.683-93C>A)
n.2647+1G>T
19g.54938043C>GCA407860479NCR1,NLRP7c.2129+1G>C (n.2129+1G>C)
c.2045+1G>C (n.2045+1G>C)
c.2213+1G>C (n.2213+1G>C)
c.683-93C>G (n.683-93C>G)
n.2647+1G>C
19g.54938043C>TCA407860478NCR1,NLRP7c.2129+1G>A (n.2129+1G>A)
c.2045+1G>A (n.2045+1G>A)
c.2213+1G>A (n.2213+1G>A)
c.683-93C>T (n.683-93C>T)
n.2647+1G>A
19g.54938044T>ACA407860480NCR1,NLRP7c.2129A>T (p.Glu710Val)
c.2045A>T (p.Glu682Val)
c.2213A>T (p.Glu738Val)
c.683-92T>A (n.683-92T>A)
n.2647A>T
19g.54938044T>CCA407860482NCR1,NLRP7c.2129A>G (p.Glu710Gly)
c.2045A>G (p.Glu682Gly)
c.2213A>G (p.Glu738Gly)
c.683-92T>C (n.683-92T>C)
n.2647A>G
gnomAD v4
19g.54938044T>GCA407860481NCR1,NLRP7c.2129A>C (p.Glu710Ala)
c.2045A>C (p.Glu682Ala)
c.2213A>C (p.Glu738Ala)
c.683-92T>G (n.683-92T>G)
n.2647A>C
19g.54938045C>ACA407860483NCR1,NLRP7c.2128G>T (p.Glu710Ter)
c.2044G>T (p.Glu682Ter)
c.2212G>T (p.Glu738Ter)
c.683-91C>A (n.683-91C>A)
n.2646G>T
19g.54938045C=CA2343150143NCR1,NLRP7c.2128G= (p.Glu710=)
c.2044G= (p.Glu682=)
c.2212G= (p.Glu738=)
c.683-91C= (n.683-91C=)
n.2646G=
19g.54938045C>GCA407860484NCR1,NLRP7c.2128G>C (p.Glu710Gln)
c.2044G>C (p.Glu682Gln)
c.2212G>C (p.Glu738Gln)
c.683-91C>G (n.683-91C>G)
n.2646G>C
19g.54938045C>TCA407860485NCR1,NLRP7c.2128G>A (p.Glu710Lys)
c.2044G>A (p.Glu682Lys)
c.2212G>A (p.Glu738Lys)
c.683-91C>T (n.683-91C>T)
n.2646G>A
dbSNP gnomAD v4
19g.54938047A>CCA407860486NCR1,NLRP7c.2126T>G (p.Val709Gly)
c.2042T>G (p.Val681Gly)
c.2210T>G (p.Val737Gly)
c.683-89A>C (n.683-89A>C)
n.2644T>G
19g.54938047A>GCA407860487NCR1,NLRP7c.2126T>C (p.Val709Ala)
c.2042T>C (p.Val681Ala)
c.2210T>C (p.Val737Ala)
c.683-89A>G (n.683-89A>G)
n.2644T>C
gnomAD v4 COSMIC COSMIC COSMIC
19g.54938047A>TCA407860488NCR1,NLRP7c.2126T>A (p.Val709Glu)
c.2042T>A (p.Val681Glu)
c.2210T>A (p.Val737Glu)
c.683-89A>T (n.683-89A>T)
n.2644T>A
19g.54938048C>ACA407860489NCR1,NLRP7c.2125G>T (p.Val709Leu)
c.2041G>T (p.Val681Leu)
c.2209G>T (p.Val737Leu)
c.683-88C>A (n.683-88C>A)
n.2643G>T
19g.54938048C>GCA407860490NCR1,NLRP7c.2125G>C (p.Val709Leu)
c.2041G>C (p.Val681Leu)
c.2209G>C (p.Val737Leu)
c.683-88C>G (n.683-88C>G)
n.2643G>C
19g.54938048C>TCA407860491NCR1,NLRP7c.2125G>A (p.Val709Met)
c.2041G>A (p.Val681Met)
c.2209G>A (p.Val737Met)
c.683-88C>T (n.683-88C>T)
n.2643G>A
19g.54938049T>ACA407860492NCR1,NLRP7c.2124A>T (p.Lys708Asn)
c.2040A>T (p.Lys680Asn)
c.2208A>T (p.Lys736Asn)
c.683-87T>A (n.683-87T>A)
n.2642A>T
19g.54938049T>CCA2587198097NCR1,NLRP7c.2124A>G (p.Lys708=)
c.2040A>G (p.Lys680=)
c.2208A>G (p.Lys736=)
c.683-87T>C (n.683-87T>C)
n.2642A>G
gnomAD v4
19g.54938049T>GCA407860493NCR1,NLRP7c.2124A>C (p.Lys708Asn)
c.2040A>C (p.Lys680Asn)
c.2208A>C (p.Lys736Asn)
c.683-87T>G (n.683-87T>G)
n.2642A>C
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

Number of alleles fetched