Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125317670T>A | CA358117532 | FAT4 | c.1259T>A (p.Ile420Asn) c.-55+1693T>A (n.-55+1693T>A) | |
4 | g.125317670T>C | CA358117533 | FAT4 | c.1259T>C (p.Ile420Thr) c.-55+1693T>C (n.-55+1693T>C) | |
4 | g.125317670T>G | CA358117534 | FAT4 | c.1259T>G (p.Ile420Ser) c.-55+1693T>G (n.-55+1693T>G) | |
4 | g.125317671C>A | CA441366947 | FAT4 | c.1260C>A (p.Ile420=) c.-55+1694C>A (n.-55+1694C>A) | |
4 | g.125317671C= | CA1491600440 | FAT4 | c.1260C= (p.Ile420=) c.-55+1694C= (n.-55+1694C=) | |
4 | g.125317671C>G | CA358117535 | FAT4 | c.1260C>G (p.Ile420Met) c.-55+1694C>G (n.-55+1694C>G) | |
4 | g.125317671C>T | CA441366955 | FAT4 | c.1260C>T (p.Ile420=) c.-55+1694C>T (n.-55+1694C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125317672A>C | CA358117536 | FAT4 | c.1261A>C (p.Lys421Gln) c.-55+1695A>C (n.-55+1695A>C) | |
4 | g.125317672A>G | CA358117537 | FAT4 | c.1261A>G (p.Lys421Glu) c.-55+1695A>G (n.-55+1695A>G) | |
4 | g.125317672A>T | CA358117538 | FAT4 | c.1261A>T (p.Lys421Ter) c.-55+1695A>T (n.-55+1695A>T) | |
4 | g.125317673A>C | CA358117539 | FAT4 | c.1262A>C (p.Lys421Thr) c.-55+1696A>C (n.-55+1696A>C) | ClinVar |
4 | g.125317673A>G | CA358117540 | FAT4 | c.1262A>G (p.Lys421Arg) c.-55+1696A>G (n.-55+1696A>G) | |
4 | g.125317673A>T | CA358117541 | FAT4 | c.1262A>T (p.Lys421Met) c.-55+1696A>T (n.-55+1696A>T) | |
4 | g.125317674G>A | CA441366969 | FAT4 | c.1263G>A (p.Lys421=) c.-55+1697G>A (n.-55+1697G>A) | |
4 | g.125317674G>C | CA358117542 | FAT4 | c.1263G>C (p.Lys421Asn) c.-55+1697G>C (n.-55+1697G>C) | |
4 | g.125317674G>T | CA358117543 | FAT4 | c.1263G>T (p.Lys421Asn) c.-55+1697G>T (n.-55+1697G>T) | |
4 | g.125317675G>A | CA3071950 | FAT4 | c.1264G>A (p.Val422Met) c.-55+1698G>A (n.-55+1698G>A) | dbSNP ExAC gnomAD v2 |
4 | g.125317675G>C | CA358117545 | FAT4 | c.1264G>C (p.Val422Leu) c.-55+1698G>C (n.-55+1698G>C) | |
4 | g.125317675G= | CA1491600445 | FAT4 | c.1264G= (p.Val422=) c.-55+1698G= (n.-55+1698G=) | |
4 | g.125317675G>T | CA358117544 | FAT4 | c.1264G>T (p.Val422Leu) c.-55+1698G>T (n.-55+1698G>T) | gnomAD v4 |
4 | g.125317676T>A | CA358117546 | FAT4 | c.1265T>A (p.Val422Glu) c.-55+1699T>A (n.-55+1699T>A) | |
4 | g.125317676T>C | CA358117547 | FAT4 | c.1265T>C (p.Val422Ala) c.-55+1699T>C (n.-55+1699T>C) | dbSNP gnomAD v4 |
4 | g.125317676T>G | CA358117548 | FAT4 | c.1265T>G (p.Val422Gly) c.-55+1699T>G (n.-55+1699T>G) | |
4 | g.125317676T= | CA1491600450 | FAT4 | c.1265T= (p.Val422=) c.-55+1699T= (n.-55+1699T=) | |
4 | g.125317677G>A | CA441366975 | FAT4 | c.1266G>A (p.Val422=) c.-55+1700G>A (n.-55+1700G>A) | |
4 | g.125317677G>C | CA441366977 | FAT4 | c.1266G>C (p.Val422=) c.-55+1700G>C (n.-55+1700G>C) | |
4 | g.125317677G>T | CA441366981 | FAT4 | c.1266G>T (p.Val422=) c.-55+1700G>T (n.-55+1700G>T) | |
4 | g.125317678G>A | CA358117549 | FAT4 | c.1267G>A (p.Ala423Thr) c.-55+1701G>A (n.-55+1701G>A) | |
4 | g.125317678G>C | CA358117550 | FAT4 | c.1267G>C (p.Ala423Pro) c.-55+1701G>C (n.-55+1701G>C) | |
4 | g.125317678G>T | CA358117551 | FAT4 | c.1267G>T (p.Ala423Ser) c.-55+1701G>T (n.-55+1701G>T) | |
4 | g.125317679C>A | CA358117552 | FAT4 | c.1268C>A (p.Ala423Asp) c.-55+1702C>A (n.-55+1702C>A) | |
4 | g.125317679C= | CA1491600455 | FAT4 | c.1268C= (p.Ala423=) c.-55+1702C= (n.-55+1702C=) | |
4 | g.125317679C>G | CA358117553 | FAT4 | c.1268C>G (p.Ala423Gly) c.-55+1702C>G (n.-55+1702C>G) | |
4 | g.125317679C>T | CA358117554 | FAT4 | c.1268C>T (p.Ala423Val) c.-55+1702C>T (n.-55+1702C>T) | dbSNP gnomAD v2 |
4 | g.125317680C>A | CA441366987 | FAT4 | c.1269C>A (p.Ala423=) c.-55+1703C>A (n.-55+1703C>A) | |
4 | g.125317680C>G | CA441366989 | FAT4 | c.1269C>G (p.Ala423=) c.-55+1703C>G (n.-55+1703C>G) | |
4 | g.125317680C>T | CA441366991 | FAT4 | c.1269C>T (p.Ala423=) c.-55+1703C>T (n.-55+1703C>T) | |
4 | g.125317681A>C | CA358117555 | FAT4 | c.1270A>C (p.Ser424Arg) c.-55+1704A>C (n.-55+1704A>C) | |
4 | g.125317681A>G | CA358117556 | FAT4 | c.1270A>G (p.Ser424Gly) c.-55+1704A>G (n.-55+1704A>G) | |
4 | g.125317681A>T | CA358117557 | FAT4 | c.1270A>T (p.Ser424Cys) c.-55+1704A>T (n.-55+1704A>T) | |
4 | g.125317682G>A | CA358117560 | FAT4 | c.1271G>A (p.Ser424Asn) c.-55+1705G>A (n.-55+1705G>A) | |
4 | g.125317682G>C | CA358117559 | FAT4 | c.1271G>C (p.Ser424Thr) c.-55+1705G>C (n.-55+1705G>C) | |
4 | g.125317682G>T | CA358117558 | FAT4 | c.1271G>T (p.Ser424Ile) c.-55+1705G>T (n.-55+1705G>T) | |
4 | g.125317683C>A | CA3071951 | FAT4 | c.1272C>A (p.Ser424Arg) c.-55+1706C>A (n.-55+1706C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317683C= | CA1491600461 | FAT4 | c.1272C= (p.Ser424=) c.-55+1706C= (n.-55+1706C=) | |
4 | g.125317683C>G | CA358117561 | FAT4 | c.1272C>G (p.Ser424Arg) c.-55+1706C>G (n.-55+1706C>G) | |
4 | g.125317683C>T | CA441366997 | FAT4 | c.1272C>T (p.Ser424=) c.-55+1706C>T (n.-55+1706C>T) | gnomAD v4 |
4 | g.125317684G>A | CA358117562 | FAT4 | c.1273G>A (p.Ala425Thr) c.-55+1707G>A (n.-55+1707G>A) | |
4 | g.125317684G>C | CA3071952 | FAT4 | c.1273G>C (p.Ala425Pro) c.-55+1707G>C (n.-55+1707G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317684G= | CA1491600473 | FAT4 | c.1273G= (p.Ala425=) c.-55+1707G= (n.-55+1707G=) |