| 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.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= | |
| 19 | g.54938155G>A | CA407860721 | NCR1,NLRP7 | c.2018C>T (p.Ser673Leu) c.1934C>T (p.Ser645Leu) c.2102C>T (p.Ser701Leu) c.*12G>A (n.*12G>A) n.2536C>T | |
| 19 | g.54938155G>C | CA149985 | NCR1,NLRP7 | c.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 |
| 19 | g.54938155G= | CA2343150187 | NCR1,NLRP7 | c.2018C= (p.Ser673=) c.1934C= (p.Ser645=) c.2102C= (p.Ser701=) c.*12G= (n.*12G=) n.2536C= |