Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.119320662dup | CA3059765 | FABP2 | c.240+18dup (n.240+18dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.119320661_119320662dup | CA554157162 | FABP2 | c.240+17_240+18dup (n.240+17_240+18dup) | gnomAD v2 gnomAD v4 |
4 | g.119320660_119320662dup | CA2671895109 | FABP2 | c.240+16_240+18dup (n.240+16_240+18dup) | gnomAD v4 |
4 | g.119320662del | CA3059764 | FABP2 | c.240+18del (n.240+18del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.119320661_119320662del | CA554157160 | FABP2 | c.240+17_240+18del (n.240+17_240+18del) | gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119320660_119320662del | CA3059766 | FABP2 | c.240+16_240+18del (n.240+16_240+18del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119320658A= | CA1488878504 | FABP2 | c.240+12T= (n.240+12T=) | |
4 | g.119320658A>G | CA1488878505 | FABP2 | c.240+12T>C (n.240+12T>C) | dbSNP gnomAD v4 |
4 | g.119320659A= | CA1488878506 | FABP2 | c.240+11T= (n.240+11T=) | |
4 | g.119320659A>G | CA554157164 | FABP2 | c.240+11T>C (n.240+11T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.119320660A>G | CA2671895115 | FABP2 | c.240+10T>C (n.240+10T>C) | gnomAD v4 |
4 | g.119320660A>T | CA2671895116 | FABP2 | c.240+10T>A (n.240+10T>A) | gnomAD v4 |
4 | g.119320661A>C | CA2671895117 | FABP2 | c.240+9T>G (n.240+9T>G) | gnomAD v4 |
4 | g.119320661A>G | CA2671895118 | FABP2 | c.240+9T>C (n.240+9T>C) | gnomAD v4 |
4 | g.119320662A>T | CA2549383169 | FABP2 | c.240+8T>A (n.240+8T>A) | gnomAD v4 |
4 | g.119320663T>A | CA2671895120 | FABP2 | c.240+7A>T (n.240+7A>T) | gnomAD v4 |
4 | g.119320664dup | CA2671895119 | FABP2 | c.240+7dup (n.240+7dup) | gnomAD v4 |
4 | g.119320664T>A | CA554157165 | FABP2 | c.240+6A>T (n.240+6A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119320664T= | CA1488878507 | FABP2 | c.240+6A= (n.240+6A=) | |
4 | g.119320665C>A | CA2671895121 | FABP2 | c.240+5G>T (n.240+5G>T) | gnomAD v4 |
4 | g.119320665C= | CA1488878508 | FABP2 | c.240+5G= (n.240+5G=) | |
4 | g.119320665C>T | CA3059768 | FABP2 | c.240+5G>A (n.240+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119320666T>C | CA3059769 | FABP2 | c.240+4A>G (n.240+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.119320666T= | CA1488878509 | FABP2 | c.240+4A= (n.240+4A=) | |
4 | g.119320668A>C | CA358026611 | FABP2 | c.240+2T>G (n.240+2T>G) | |
4 | g.119320668A>G | CA358026616 | FABP2 | c.240+2T>C (n.240+2T>C) | gnomAD v4 |
4 | g.119320668A>T | CA358026621 | FABP2 | c.240+2T>A (n.240+2T>A) | |
4 | g.119320669C>A | CA358026625 | FABP2 | c.240+1G>T (n.240+1G>T) | gnomAD v4 |
4 | g.119320669C= | CA1488878510 | FABP2 | c.240+1G= (n.240+1G=) | |
4 | g.119320669C>G | CA3059770 | FABP2 | c.240+1G>C (n.240+1G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.119320669C>T | CA358026626 | FABP2 | c.240+1G>A (n.240+1G>A) | gnomAD v4 |
4 | g.119320670C>A | CA358026629 | FABP2 | c.240G>T (p.Arg80Ser) | gnomAD v4 |
4 | g.119320670C>G | CA358026627 | FABP2 | c.240G>C (p.Arg80Ser) | |
4 | g.119320670C>T | CA440890414 | FABP2 | c.240G>A (p.Arg80=) | |
4 | g.119320670_119320672delinsCCT | CA1488878511 | FABP2 | c.238_240delinsAGG (p.Arg80=) | |
4 | g.119320671C>A | CA358026633 | FABP2 | c.239G>T (p.Arg80Met) | gnomAD v4 COSMIC |
4 | g.119320671C= | CA1488878512 | FABP2 | c.239G= (p.Arg80=) | |
4 | g.119320671C>G | CA3059772 | FABP2 | c.239G>C (p.Arg80Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.119320671C>T | CA358026638 | FABP2 | c.239G>A (p.Arg80Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.119320671_119320672del | CA3059771 | FABP2 | c.238_239del (p.Arg80GlyfsTer6) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.119320672T>A | CA358026646 | FABP2 | c.238A>T (p.Arg80Trp) | gnomAD v4 |
4 | g.119320672T>C | CA358026650 | FABP2 | c.238A>G (p.Arg80Gly) | gnomAD v4 |
4 | g.119320672T>G | CA440890429 | FABP2 | c.238A>C (p.Arg80=) | |
4 | g.119320673G>A | CA440890437 | FABP2 | c.237C>T (p.Leu79=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.119320673G>C | CA440890435 | FABP2 | c.237C>G (p.Leu79=) | |
4 | g.119320673G= | CA1488878513 | FABP2 | c.237C= (p.Leu79=) | |
4 | g.119320673G>T | CA440890433 | FABP2 | c.237C>A (p.Leu79=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.119320674A= | CA1488878514 | FABP2 | c.236T= (p.Leu79=) | |
4 | g.119320674A>C | CA358026655 | FABP2 | c.236T>G (p.Leu79Arg) | gnomAD v4 |
4 | g.119320674A>G | CA3059773 | FABP2 | c.236T>C (p.Leu79Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |