Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.43946294G>A | CA411847864 | PNPLA3 | c.1358G>A (p.Ser453Asn) c.*849+1499G>A (n.*849+1499G>A) c.1346G>A (p.Ser449Asn) | |
22 | g.43946294G>C | CA411847866 | PNPLA3 | c.1358G>C (p.Ser453Thr) c.*849+1499G>C (n.*849+1499G>C) c.1346G>C (p.Ser449Thr) | |
22 | g.43946294G= | CA2407489698 | PNPLA3 | c.1358G= (p.Ser453=) c.*849+1499G= (n.*849+1499G=) c.1346G= (p.Ser449=) | |
22 | g.43946294G>T | CA10278264 | PNPLA3 | c.1358G>T (p.Ser453Ile) c.*849+1499G>T (n.*849+1499G>T) c.1346G>T (p.Ser449Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946295C>A | CA411847869 | PNPLA3 | c.1359C>A (p.Ser453Arg) c.*849+1500C>A (n.*849+1500C>A) c.1347C>A (p.Ser449Arg) | gnomAD v4 |
22 | g.43946295C= | CA2407489699 | PNPLA3 | c.1359C= (p.Ser453=) c.*849+1500C= (n.*849+1500C=) c.1347C= (p.Ser449=) | |
22 | g.43946295C>G | CA10278265 | PNPLA3 | c.1359C>G (p.Ser453Arg) c.*849+1500C>G (n.*849+1500C>G) c.1347C>G (p.Ser449Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946295C>T | CA10278266 | PNPLA3 | c.1359C>T (p.Ser453=) c.*849+1500C>T (n.*849+1500C>T) c.1347C>T (p.Ser449=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946296C>A | CA411847875 | PNPLA3 | c.1360C>A (p.Leu454Met) c.*849+1501C>A (n.*849+1501C>A) c.1348C>A (p.Leu450Met) | |
22 | g.43946296C= | CA2407489700 | PNPLA3 | c.1360C= (p.Leu454=) c.*849+1501C= (n.*849+1501C=) c.1348C= (p.Leu450=) | |
22 | g.43946296C>G | CA411847874 | PNPLA3 | c.1360C>G (p.Leu454Val) c.*849+1501C>G (n.*849+1501C>G) c.1348C>G (p.Leu450Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946296C>T | CA515083416 | PNPLA3 | c.1360C>T (p.Leu454=) c.*849+1501C>T (n.*849+1501C>T) c.1348C>T (p.Leu450=) | |
22 | g.43946297T>A | CA411847877 | PNPLA3 | c.1361T>A (p.Leu454Gln) c.*849+1502T>A (n.*849+1502T>A) c.1349T>A (p.Leu450Gln) | |
22 | g.43946297T>C | CA411847879 | PNPLA3 | c.1361T>C (p.Leu454Pro) c.*849+1502T>C (n.*849+1502T>C) c.1349T>C (p.Leu450Pro) | |
22 | g.43946297T>G | CA411847881 | PNPLA3 | c.1361T>G (p.Leu454Arg) c.*849+1502T>G (n.*849+1502T>G) c.1349T>G (p.Leu450Arg) | |
22 | g.43946298G>A | CA515083424 | PNPLA3 | c.1362G>A (p.Leu454=) c.*849+1503G>A (n.*849+1503G>A) c.1350G>A (p.Leu450=) | |
22 | g.43946298G>C | CA515083426 | PNPLA3 | c.1362G>C (p.Leu454=) c.*849+1503G>C (n.*849+1503G>C) c.1350G>C (p.Leu450=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946298G= | CA2407489701 | PNPLA3 | c.1362G= (p.Leu454=) c.*849+1503G= (n.*849+1503G=) c.1350G= (p.Leu450=) | |
22 | g.43946298G>T | CA515083428 | PNPLA3 | c.1362G>T (p.Leu454=) c.*849+1503G>T (n.*849+1503G>T) c.1350G>T (p.Leu450=) | |
22 | g.43946299A= | CA2407489702 | PNPLA3 | c.1363A= (p.Asn455=) c.*849+1504A= (n.*849+1504A=) c.1351A= (p.Asn451=) | |
22 | g.43946299A>C | CA411847883 | PNPLA3 | c.1363A>C (p.Asn455His) c.*849+1504A>C (n.*849+1504A>C) c.1351A>C (p.Asn451His) | |
22 | g.43946299A>G | CA411847884 | PNPLA3 | c.1363A>G (p.Asn455Asp) c.*849+1504A>G (n.*849+1504A>G) c.1351A>G (p.Asn451Asp) | |
22 | g.43946299A>T | CA411847886 | PNPLA3 | c.1363A>T (p.Asn455Tyr) c.*849+1504A>T (n.*849+1504A>T) c.1351A>T (p.Asn451Tyr) | |
22 | g.43946300A= | CA2407489704 | PNPLA3 | c.1364A= (p.Asn455=) c.*849+1505A= (n.*849+1505A=) c.1352A= (p.Asn451=) | |
22 | g.43946300A>C | CA411847891 | PNPLA3 | c.1364A>C (p.Asn455Thr) c.*849+1505A>C (n.*849+1505A>C) c.1352A>C (p.Asn451Thr) | |
22 | g.43946300A>G | CA10278269 | PNPLA3 | c.1364A>G (p.Asn455Ser) c.*849+1505A>G (n.*849+1505A>G) c.1352A>G (p.Asn451Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.43946300A>T | CA411847889 | PNPLA3 | c.1364A>T (p.Asn455Ile) c.*849+1505A>T (n.*849+1505A>T) c.1352A>T (p.Asn451Ile) | |
22 | g.43946300_43946303delinsACTT | CA2407489703 | PNPLA3 | c.1364_1367delinsACTT (p.Asn455=) c.*849+1505_*849+1508delinsACTT (n.*849+1505_*849+1508delinsACTT) c.1352_1355delinsACTT (p.Asn451=) | |
22 | g.43946300_43946303dup | CA10278267 | PNPLA3 | c.1364_1367dup (p.Phe456LeufsTer7) c.*849+1505_*849+1508dup (n.*849+1505_*849+1508dup) c.1352_1355dup (p.Phe452LeufsTer7) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946301C>A | CA411847894 | PNPLA3 | c.1365C>A (p.Asn455Lys) c.*849+1506C>A (n.*849+1506C>A) c.1353C>A (p.Asn451Lys) | |
22 | g.43946301C>G | CA411847896 | PNPLA3 | c.1365C>G (p.Asn455Lys) c.*849+1506C>G (n.*849+1506C>G) c.1353C>G (p.Asn451Lys) | |
22 | g.43946301C>T | CA515082889 | PNPLA3 | c.1365C>T (p.Asn455=) c.*849+1506C>T (n.*849+1506C>T) c.1353C>T (p.Asn451=) | |
22 | g.43946307_43946309del | CA10278268 | PNPLA3 | c.1371_1373del (p.Phe457del) c.*849+1512_*849+1514del (n.*849+1512_*849+1514del) c.1359_1361del (p.Phe453del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.43946302T>A | CA10278270 | PNPLA3 | c.1366T>A (p.Phe456Ile) c.*849+1507T>A (n.*849+1507T>A) c.1354T>A (p.Phe452Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.43946302T>C | CA411847900 | PNPLA3 | c.1366T>C (p.Phe456Leu) c.*849+1507T>C (n.*849+1507T>C) c.1354T>C (p.Phe452Leu) | |
22 | g.43946302T>G | CA411847901 | PNPLA3 | c.1366T>G (p.Phe456Val) c.*849+1507T>G (n.*849+1507T>G) c.1354T>G (p.Phe452Val) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.43946302T= | CA2407489705 | PNPLA3 | c.1366T= (p.Phe456=) c.*849+1507T= (n.*849+1507T=) c.1354T= (p.Phe452=) | |
22 | g.43946303T>A | CA411847903 | PNPLA3 | c.1367T>A (p.Phe456Tyr) c.*849+1508T>A (n.*849+1508T>A) c.1355T>A (p.Phe452Tyr) | gnomAD v4 COSMIC |
22 | g.43946303T>C | CA411847905 | PNPLA3 | c.1367T>C (p.Phe456Ser) c.*849+1508T>C (n.*849+1508T>C) c.1355T>C (p.Phe452Ser) | |
22 | g.43946303T>G | CA411847906 | PNPLA3 | c.1367T>G (p.Phe456Cys) c.*849+1508T>G (n.*849+1508T>G) c.1355T>G (p.Phe452Cys) | |
22 | g.43946304C>A | CA411847908 | PNPLA3 | c.1368C>A (p.Phe456Leu) c.*849+1509C>A (n.*849+1509C>A) c.1356C>A (p.Phe452Leu) | dbSNP gnomAD v4 |
22 | g.43946304C= | CA2407489706 | PNPLA3 | c.1368C= (p.Phe456=) c.*849+1509C= (n.*849+1509C=) c.1356C= (p.Phe452=) | |
22 | g.43946304C>G | CA411847911 | PNPLA3 | c.1368C>G (p.Phe456Leu) c.*849+1509C>G (n.*849+1509C>G) c.1356C>G (p.Phe452Leu) | |
22 | g.43946304C>T | CA515082905 | PNPLA3 | c.1368C>T (p.Phe456=) c.*849+1509C>T (n.*849+1509C>T) c.1356C>T (p.Phe452=) | |
22 | g.43946305T>A | CA411847912 | PNPLA3 | c.1369T>A (p.Phe457Ile) c.*849+1510T>A (n.*849+1510T>A) c.1357T>A (p.Phe453Ile) | |
22 | g.43946305T>C | CA411847913 | PNPLA3 | c.1369T>C (p.Phe457Leu) c.*849+1510T>C (n.*849+1510T>C) c.1357T>C (p.Phe453Leu) | gnomAD v4 |
22 | g.43946305T>G | CA411847915 | PNPLA3 | c.1369T>G (p.Phe457Val) c.*849+1510T>G (n.*849+1510T>G) c.1357T>G (p.Phe453Val) | |
22 | g.43946306T>A | CA411847917 | PNPLA3 | c.1370T>A (p.Phe457Tyr) c.*849+1511T>A (n.*849+1511T>A) c.1358T>A (p.Phe453Tyr) | |
22 | g.43946306T>C | CA411847919 | PNPLA3 | c.1370T>C (p.Phe457Ser) c.*849+1511T>C (n.*849+1511T>C) c.1358T>C (p.Phe453Ser) | |
22 | g.43946306T>G | CA411847920 | PNPLA3 | c.1370T>G (p.Phe457Cys) c.*849+1511T>G (n.*849+1511T>G) c.1358T>G (p.Phe453Cys) |