Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.33053915T>A | CA387790597 | KL | c.968T>A (p.Val323Glu) n.976T>A c.47T>A (p.Val16Glu) | |
13 | g.33053915T>C | CA387790599 | KL | c.968T>C (p.Val323Ala) n.976T>C c.47T>C (p.Val16Ala) | |
13 | g.33053915T>G | CA387790601 | KL | c.968T>G (p.Val323Gly) n.976T>G c.47T>G (p.Val16Gly) | |
13 | g.33053916A>C | CA483441643 | KL | c.969A>C (p.Val323=) n.977A>C c.48A>C (p.Val16=) | gnomAD v4 |
13 | g.33053916A>G | CA483441644 | KL | c.969A>G (p.Val323=) n.977A>G c.48A>G (p.Val16=) | ClinVar gnomAD v4 |
13 | g.33053916A>T | CA483441645 | KL | c.969A>T (p.Val323=) n.977A>T c.48A>T (p.Val16=) | |
13 | g.33053917C>A | CA387790603 | KL | c.970C>A (p.Leu324Ile) n.978C>A c.49C>A (p.Leu17Ile) | |
13 | g.33053917C>G | CA387790604 | KL | c.970C>G (p.Leu324Val) n.978C>G c.49C>G (p.Leu17Val) | |
13 | g.33053917C>T | CA483441647 | KL | c.970C>T (p.Leu324=) n.978C>T c.49C>T (p.Leu17=) | |
13 | g.33053918T>A | CA387790607 | KL | c.971T>A (p.Leu324Gln) n.979T>A c.50T>A (p.Leu17Gln) | |
13 | g.33053918T>C | CA387790605 | KL | c.971T>C (p.Leu324Pro) n.979T>C c.50T>C (p.Leu17Pro) | dbSNP |
13 | g.33053918T>G | CA387790606 | KL | c.971T>G (p.Leu324Arg) n.979T>G c.50T>G (p.Leu17Arg) | gnomAD v4 |
13 | g.33053918T= | CA2083133454 | KL | c.971T= (p.Leu324=) n.979T= c.50T= (p.Leu17=) | |
13 | g.33053919A>C | CA483441653 | KL | c.972A>C (p.Leu324=) n.980A>C c.51A>C (p.Leu17=) | |
13 | g.33053919A>G | CA483441652 | KL | c.972A>G (p.Leu324=) n.980A>G c.51A>G (p.Leu17=) | |
13 | g.33053919A>T | CA483441651 | KL | c.972A>T (p.Leu324=) n.980A>T c.51A>T (p.Leu17=) | |
13 | g.33053920G>A | CA387790609 | KL | c.973G>A (p.Gly325Ser) n.981G>A c.52G>A (p.Gly18Ser) | dbSNP gnomAD v4 |
13 | g.33053920G>C | CA387790611 | KL | c.973G>C (p.Gly325Arg) n.981G>C c.52G>C (p.Gly18Arg) | |
13 | g.33053920G= | CA2083133457 | KL | c.973G= (p.Gly325=) n.981G= c.52G= (p.Gly18=) | |
13 | g.33053920G>T | CA247528360 | KL | c.973G>T (p.Gly325Cys) n.981G>T c.52G>T (p.Gly18Cys) | dbSNP |
13 | g.33053921G>A | CA387790614 | KL | c.974G>A (p.Gly325Asp) n.982G>A c.53G>A (p.Gly18Asp) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.33053921G>C | CA387790615 | KL | c.974G>C (p.Gly325Ala) n.982G>C c.53G>C (p.Gly18Ala) | gnomAD v4 |
13 | g.33053921G= | CA2083133466 | KL | c.974G= (p.Gly325=) n.982G= c.53G= (p.Gly18=) | |
13 | g.33053921G>T | CA387790617 | KL | c.974G>T (p.Gly325Val) n.982G>T c.53G>T (p.Gly18Val) | ClinVar dbSNP |
13 | g.33053922T>A | CA483441659 | KL | c.975T>A (p.Gly325=) n.983T>A c.54T>A (p.Gly18=) | |
13 | g.33053922T>C | CA483441660 | KL | c.975T>C (p.Gly325=) n.983T>C c.54T>C (p.Gly18=) | gnomAD v4 |
13 | g.33053922T>G | CA483441661 | KL | c.975T>G (p.Gly325=) n.983T>G c.54T>G (p.Gly18=) | |
13 | g.33053923T>A | CA387790619 | KL | c.976T>A (p.Trp326Arg) n.984T>A c.55T>A (p.Trp19Arg) | |
13 | g.33053923T>C | CA387790620 | KL | c.976T>C (p.Trp326Arg) n.984T>C c.55T>C (p.Trp19Arg) | |
13 | g.33053923T>G | CA387790621 | KL | c.976T>G (p.Trp326Gly) n.984T>G c.55T>G (p.Trp19Gly) | |
13 | g.33053924G>A | CA387790622 | KL | c.977G>A (p.Trp326Ter) n.985G>A c.56G>A (p.Trp19Ter) | |
13 | g.33053924G>C | CA387790623 | KL | c.977G>C (p.Trp326Ser) n.985G>C c.56G>C (p.Trp19Ser) | |
13 | g.33053924G= | CA2083133478 | KL | c.977G= (p.Trp326=) n.985G= c.56G= (p.Trp19=) | |
13 | g.33053924G>T | CA6944008 | KL | c.977G>T (p.Trp326Leu) n.985G>T c.56G>T (p.Trp19Leu) | dbSNP ExAC gnomAD v2 |
13 | g.33053925G>A | CA6944009 | KL | c.978G>A (p.Trp326Ter) n.986G>A c.57G>A (p.Trp19Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.33053925G>C | CA387790627 | KL | c.978G>C (p.Trp326Cys) n.986G>C c.57G>C (p.Trp19Cys) | |
13 | g.33053925G= | CA2083133487 | KL | c.978G= (p.Trp326=) n.986G= c.57G= (p.Trp19=) | |
13 | g.33053925G>T | CA387790625 | KL | c.978G>T (p.Trp326Cys) n.986G>T c.57G>T (p.Trp19Cys) | |
13 | g.33053925_33053926delinsGT | CA2083133485 | KL | c.978_979delinsGT (p.Trp326=) n.986_987delinsGT c.57_58delinsGT (p.Trp19=) | |
13 | g.33053926T>A | CA387790628 | KL | c.979T>A (p.Phe327Ile) n.987T>A c.58T>A (p.Phe20Ile) | |
13 | g.33053926T>C | CA387790629 | KL | c.979T>C (p.Phe327Leu) n.987T>C c.58T>C (p.Phe20Leu) | COSMIC COSMIC |
13 | g.33053926T>G | CA387790630 | KL | c.979T>G (p.Phe327Val) n.987T>G c.58T>G (p.Phe20Val) | |
13 | g.33053928del | CA6944010 | KL | c.981del (p.Phe327LeufsTer15) n.989del c.60del (p.Phe20LeufsTer15) | dbSNP ExAC gnomAD v4 |
13 | g.33053927T>A | CA387790631 | KL | c.980T>A (p.Phe327Tyr) n.988T>A c.59T>A (p.Phe20Tyr) | |
13 | g.33053927T>C | CA387790633 | KL | c.980T>C (p.Phe327Ser) n.988T>C c.59T>C (p.Phe20Ser) | |
13 | g.33053927T>G | CA387790635 | KL | c.980T>G (p.Phe327Cys) n.988T>G c.59T>G (p.Phe20Cys) | |
13 | g.33053928T>A | CA387790636 | KL | c.981T>A (p.Phe327Leu) n.989T>A c.60T>A (p.Phe20Leu) | |
13 | g.33053928T>C | CA6944011 | KL | c.981T>C (p.Phe327=) n.989T>C c.60T>C (p.Phe20=) | dbSNP ExAC gnomAD v4 |
13 | g.33053928T>G | CA387790639 | KL | c.981T>G (p.Phe327Leu) n.989T>G c.60T>G (p.Phe20Leu) | |
13 | g.33053928T= | CA2083133493 | KL | c.981T= (p.Phe327=) n.989T= c.60T= (p.Phe20=) |