| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.125317459G>A | CA358117087 | FAT4 | c.1048G>A (p.Asp350Asn) c.-55+1482G>A (n.-55+1482G>A) | |
| 4 | g.125317459G>C | CA358117088 | FAT4 | c.1048G>C (p.Asp350His) c.-55+1482G>C (n.-55+1482G>C) | |
| 4 | g.125317459G>T | CA358117089 | FAT4 | c.1048G>T (p.Asp350Tyr) c.-55+1482G>T (n.-55+1482G>T) | |
| 4 | g.125317460A>C | CA358117092 | FAT4 | c.1049A>C (p.Asp350Ala) c.-55+1483A>C (n.-55+1483A>C) | |
| 4 | g.125317460A>G | CA358117091 | FAT4 | c.1049A>G (p.Asp350Gly) c.-55+1483A>G (n.-55+1483A>G) | |
| 4 | g.125317460A>T | CA358117090 | FAT4 | c.1049A>T (p.Asp350Val) c.-55+1483A>T (n.-55+1483A>T) | |
| 4 | g.125317461C>A | CA358117093 | FAT4 | c.1050C>A (p.Asp350Glu) c.-55+1484C>A (n.-55+1484C>A) | |
| 4 | g.125317461C= | CA1491599892 | FAT4 | c.1050C= (p.Asp350=) c.-55+1484C= (n.-55+1484C=) | |
| 4 | g.125317461C>G | CA358117094 | FAT4 | c.1050C>G (p.Asp350Glu) c.-55+1484C>G (n.-55+1484C>G) | |
| 4 | g.125317461C>T | CA3071906 | FAT4 | c.1050C>T (p.Asp350=) c.-55+1484C>T (n.-55+1484C>T) | dbSNP ExAC gnomAD v2 |
| 4 | g.125317462C>A | CA358117095 | FAT4 | c.1051C>A (p.Pro351Thr) c.-55+1485C>A (n.-55+1485C>A) | |
| 4 | g.125317462C= | CA1491599895 | FAT4 | c.1051C= (p.Pro351=) c.-55+1485C= (n.-55+1485C=) | |
| 4 | g.125317462C>G | CA3071907 | FAT4 | c.1051C>G (p.Pro351Ala) c.-55+1485C>G (n.-55+1485C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317462C>T | CA358117096 | FAT4 | c.1051C>T (p.Pro351Ser) c.-55+1485C>T (n.-55+1485C>T) | |
| 4 | g.125317463C>A | CA358117097 | FAT4 | c.1052C>A (p.Pro351Gln) c.-55+1486C>A (n.-55+1486C>A) | |
| 4 | g.125317463C= | CA1491599901 | FAT4 | c.1052C= (p.Pro351=) c.-55+1486C= (n.-55+1486C=) | |
| 4 | g.125317463C>G | CA358117098 | FAT4 | c.1052C>G (p.Pro351Arg) c.-55+1486C>G (n.-55+1486C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317463C>T | CA358117099 | FAT4 | c.1052C>T (p.Pro351Leu) c.-55+1486C>T (n.-55+1486C>T) | gnomAD v4 |
| 4 | g.125317464G>A | CA3071908 | FAT4 | c.1053G>A (p.Pro351=) c.-55+1487G>A (n.-55+1487G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317464G>C | CA441366362 | FAT4 | c.1053G>C (p.Pro351=) c.-55+1487G>C (n.-55+1487G>C) | dbSNP |
| 4 | g.125317464G= | CA1491599908 | FAT4 | c.1053G= (p.Pro351=) c.-55+1487G= (n.-55+1487G=) | |
| 4 | g.125317464G>T | CA441366363 | FAT4 | c.1053G>T (p.Pro351=) c.-55+1487G>T (n.-55+1487G>T) | |
| 4 | g.125317465G>A | CA3071909 | FAT4 | c.1054G>A (p.Val352Ile) c.-55+1488G>A (n.-55+1488G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317465G>C | CA358117100 | FAT4 | c.1054G>C (p.Val352Leu) c.-55+1488G>C (n.-55+1488G>C) | gnomAD v4 |
| 4 | g.125317465G= | CA1491599915 | FAT4 | c.1054G= (p.Val352=) c.-55+1488G= (n.-55+1488G=) | |
| 4 | g.125317465G>T | CA358117101 | FAT4 | c.1054G>T (p.Val352Leu) c.-55+1488G>T (n.-55+1488G>T) | |
| 4 | g.125317466T>A | CA358117103 | FAT4 | c.1055T>A (p.Val352Glu) c.-55+1489T>A (n.-55+1489T>A) | |
| 4 | g.125317466T>C | CA358117104 | FAT4 | c.1055T>C (p.Val352Ala) c.-55+1489T>C (n.-55+1489T>C) | |
| 4 | g.125317466T>G | CA358117102 | FAT4 | c.1055T>G (p.Val352Gly) c.-55+1489T>G (n.-55+1489T>G) | |
| 4 | g.125317467A>C | CA441366365 | FAT4 | c.1056A>C (p.Val352=) c.-55+1490A>C (n.-55+1490A>C) | |
| 4 | g.125317467A>G | CA441366367 | FAT4 | c.1056A>G (p.Val352=) c.-55+1490A>G (n.-55+1490A>G) | gnomAD v4 |
| 4 | g.125317467A>T | CA441366366 | FAT4 | c.1056A>T (p.Val352=) c.-55+1490A>T (n.-55+1490A>T) | |
| 4 | g.125317468G>A | CA358117105 | FAT4 | c.1057G>A (p.Val353Met) c.-55+1491G>A (n.-55+1491G>A) | gnomAD v4 |
| 4 | g.125317468G>C | CA358117106 | FAT4 | c.1057G>C (p.Val353Leu) c.-55+1491G>C (n.-55+1491G>C) | |
| 4 | g.125317468G>T | CA358117107 | FAT4 | c.1057G>T (p.Val353Leu) c.-55+1491G>T (n.-55+1491G>T) | |
| 4 | g.125317469T>A | CA358117108 | FAT4 | c.1058T>A (p.Val353Glu) c.-55+1492T>A (n.-55+1492T>A) | |
| 4 | g.125317469T>C | CA3071910 | FAT4 | c.1058T>C (p.Val353Ala) c.-55+1492T>C (n.-55+1492T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317469T>G | CA358117109 | FAT4 | c.1058T>G (p.Val353Gly) c.-55+1492T>G (n.-55+1492T>G) | |
| 4 | g.125317469T= | CA1491599918 | FAT4 | c.1058T= (p.Val353=) c.-55+1492T= (n.-55+1492T=) | |
| 4 | g.125317470G>A | CA441366370 | FAT4 | c.1059G>A (p.Val353=) c.-55+1493G>A (n.-55+1493G>A) | ClinVar |
| 4 | g.125317470G>C | CA441366372 | FAT4 | c.1059G>C (p.Val353=) c.-55+1493G>C (n.-55+1493G>C) | |
| 4 | g.125317470G>T | CA441366373 | FAT4 | c.1059G>T (p.Val353=) c.-55+1493G>T (n.-55+1493G>T) | |
| 4 | g.125317471A>C | CA358117112 | FAT4 | c.1060A>C (p.Lys354Gln) c.-55+1494A>C (n.-55+1494A>C) | |
| 4 | g.125317471A>G | CA358117111 | FAT4 | c.1060A>G (p.Lys354Glu) c.-55+1494A>G (n.-55+1494A>G) | |
| 4 | g.125317471A>T | CA358117110 | FAT4 | c.1060A>T (p.Lys354Ter) c.-55+1494A>T (n.-55+1494A>T) | |
| 4 | g.125317472A>C | CA358117113 | FAT4 | c.1061A>C (p.Lys354Thr) c.-55+1495A>C (n.-55+1495A>C) | |
| 4 | g.125317472A>G | CA358117114 | FAT4 | c.1061A>G (p.Lys354Arg) c.-55+1495A>G (n.-55+1495A>G) | gnomAD v4 |
| 4 | g.125317472A>T | CA358117115 | FAT4 | c.1061A>T (p.Lys354Met) c.-55+1495A>T (n.-55+1495A>T) | |
| 4 | g.125317473G>A | CA3071911 | FAT4 | c.1062G>A (p.Lys354=) c.-55+1496G>A (n.-55+1496G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317473G>C | CA358117116 | FAT4 | c.1062G>C (p.Lys354Asn) c.-55+1496G>C (n.-55+1496G>C) | gnomAD v4 |