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.54938043C>A | CA407860477 | NCR1,NLRP7 | c.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 | |
19 | g.54938043C>G | CA407860479 | NCR1,NLRP7 | c.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 | |
19 | g.54938043C>T | CA407860478 | NCR1,NLRP7 | c.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 | |
19 | g.54938044T>A | CA407860480 | NCR1,NLRP7 | c.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 | |
19 | g.54938044T>C | CA407860482 | NCR1,NLRP7 | c.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 |
19 | g.54938044T>G | CA407860481 | NCR1,NLRP7 | c.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 | |
19 | g.54938045C>A | CA407860483 | NCR1,NLRP7 | c.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 | |
19 | g.54938045C= | CA2343150143 | NCR1,NLRP7 | c.2128G= (p.Glu710=) c.2044G= (p.Glu682=) c.2212G= (p.Glu738=) c.683-91C= (n.683-91C=) n.2646G= | |
19 | g.54938045C>G | CA407860484 | NCR1,NLRP7 | c.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 | |
19 | g.54938045C>T | CA407860485 | NCR1,NLRP7 | c.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 |
19 | g.54938047A>C | CA407860486 | NCR1,NLRP7 | c.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 | |
19 | g.54938047A>G | CA407860487 | NCR1,NLRP7 | c.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 |
19 | g.54938047A>T | CA407860488 | NCR1,NLRP7 | c.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 | |
19 | g.54938048C>A | CA407860489 | NCR1,NLRP7 | c.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 | |
19 | g.54938048C>G | CA407860490 | NCR1,NLRP7 | c.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 | |
19 | g.54938048C>T | CA407860491 | NCR1,NLRP7 | c.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 | |
19 | g.54938049T>A | CA407860492 | NCR1,NLRP7 | c.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 | |
19 | g.54938049T>C | CA2587198097 | NCR1,NLRP7 | c.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 |
19 | g.54938049T>G | CA407860493 | NCR1,NLRP7 | c.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 | |
19 | g.54938050T>A | CA407860496 | NCR1,NLRP7 | c.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 | |
19 | g.54938050T>C | CA407860495 | NCR1,NLRP7 | c.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 | |
19 | g.54938050T>G | CA407860494 | NCR1,NLRP7 | c.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 | |
19 | g.54938051T>A | CA407860497 | NCR1,NLRP7 | c.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 | |
19 | g.54938051T>C | CA407860498 | NCR1,NLRP7 | c.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 | |
19 | g.54938051T>G | CA407860499 | NCR1,NLRP7 | c.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 | |
19 | g.54938052C>A | CA407860500 | NCR1,NLRP7 | c.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 | |
19 | g.54938052C>G | CA407860501 | NCR1,NLRP7 | c.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 | |
19 | g.54938053T>A | CA407860502 | NCR1,NLRP7 | c.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 |
19 | g.54938053T>C | CA407860503 | NCR1,NLRP7 | c.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 | |
19 | g.54938053T>G | CA407860504 | NCR1,NLRP7 | c.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 | |
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 |