Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.75763914A>C | CA401106269 | GALK1 | c.338T>G (p.Val113Gly) c.92T>G (p.Val31Gly) n.335T>G n.359T>G | |
17 | g.75763914A>G | CA401106274 | GALK1 | c.338T>C (p.Val113Ala) c.92T>C (p.Val31Ala) n.335T>C n.359T>C | |
17 | g.75763914A>T | CA401106276 | GALK1 | c.338T>A (p.Val113Glu) c.92T>A (p.Val31Glu) n.335T>A n.359T>A | |
17 | g.75763915C>A | CA401106279 | GALK1 | c.337G>T (p.Val113Leu) c.91G>T (p.Val31Leu) n.334G>T n.358G>T | gnomAD v4 |
17 | g.75763915C= | CA2275671306 | GALK1 | c.337G= (p.Val113=) c.91G= (p.Val31=) n.334G= n.358G= | |
17 | g.75763915C>G | CA401106290 | GALK1 | c.337G>C (p.Val113Leu) c.91G>C (p.Val31Leu) n.334G>C n.358G>C | |
17 | g.75763915C>T | CA8770994 | GALK1 | c.337G>A (p.Val113Met) c.91G>A (p.Val31Met) n.334G>A n.358G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75763916T>A | CA501842681 | GALK1 | c.336A>T (p.Gly112=) c.90A>T (p.Gly30=) n.333A>T n.357A>T | ClinVar dbSNP gnomAD v4 |
17 | g.75763916T>C | CA501842682 | GALK1 | c.336A>G (p.Gly112=) c.90A>G (p.Gly30=) n.333A>G n.357A>G | ClinVar dbSNP |
17 | g.75763916T>G | CA501842683 | GALK1 | c.336A>C (p.Gly112=) c.90A>C (p.Gly30=) n.333A>C n.357A>C | |
17 | g.75763916T= | CA2275671307 | GALK1 | c.336A= (p.Gly112=) c.90A= (p.Gly30=) n.333A= n.357A= | |
17 | g.75763917C>A | CA401106295 | GALK1 | c.335G>T (p.Gly112Val) c.89G>T (p.Gly30Val) n.332G>T n.356G>T | |
17 | g.75763917C>G | CA401106298 | GALK1 | c.335G>C (p.Gly112Ala) c.89G>C (p.Gly30Ala) n.332G>C n.356G>C | |
17 | g.75763917C>T | CA401106299 | GALK1 | c.335G>A (p.Gly112Glu) c.89G>A (p.Gly30Glu) n.332G>A n.356G>A | |
17 | g.75763918C>A | CA401106300 | GALK1 | c.334G>T (p.Gly112Ter) c.88G>T (p.Gly30Ter) n.331G>T n.355G>T | |
17 | g.75763918C= | CA2275671308 | GALK1 | c.334G= (p.Gly112=) c.88G= (p.Gly30=) n.331G= n.355G= | |
17 | g.75763918C>G | CA401106301 | GALK1 | c.334G>C (p.Gly112Arg) c.88G>C (p.Gly30Arg) n.331G>C n.355G>C | |
17 | g.75763918C>T | CA294089227 | GALK1 | c.334G>A (p.Gly112Arg) c.88G>A (p.Gly30Arg) n.331G>A n.355G>A | dbSNP |
17 | g.75763919C>A | CA401106304 | GALK1 | c.333G>T (p.Lys111Asn) c.87G>T (p.Lys29Asn) n.330G>T n.354G>T | gnomAD v4 |
17 | g.75763919C>G | CA401106302 | GALK1 | c.333G>C (p.Lys111Asn) c.87G>C (p.Lys29Asn) n.330G>C n.354G>C | |
17 | g.75763919C>T | CA501842685 | GALK1 | c.333G>A (p.Lys111=) c.87G>A (p.Lys29=) n.330G>A n.354G>A | |
17 | g.75763920T>A | CA401106307 | GALK1 | c.332A>T (p.Lys111Met) c.86A>T (p.Lys29Met) n.329A>T n.353A>T | |
17 | g.75763920T>C | CA401106308 | GALK1 | c.332A>G (p.Lys111Arg) c.86A>G (p.Lys29Arg) n.329A>G n.353A>G | gnomAD v4 |
17 | g.75763920T>G | CA401106314 | GALK1 | c.332A>C (p.Lys111Thr) c.86A>C (p.Lys29Thr) n.329A>C n.353A>C | |
17 | g.75763921T>A | CA401106316 | GALK1 | c.331A>T (p.Lys111Ter) c.85A>T (p.Lys29Ter) n.328A>T n.352A>T | ClinVar |
17 | g.75763921T>C | CA8770995 | GALK1 | c.331A>G (p.Lys111Glu) c.85A>G (p.Lys29Glu) n.328A>G n.352A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75763921T>G | CA401106322 | GALK1 | c.331A>C (p.Lys111Gln) c.85A>C (p.Lys29Gln) n.328A>C n.352A>C | |
17 | g.75763921T= | CA2275671309 | GALK1 | c.331A= (p.Lys111=) c.85A= (p.Lys29=) n.328A= n.352A= | |
17 | g.75763922G>A | CA501842686 | GALK1 | c.330C>T (p.Val110=) c.84C>T (p.Val28=) n.327C>T n.351C>T | gnomAD v4 COSMIC |
17 | g.75763922G>C | CA501842687 | GALK1 | c.330C>G (p.Val110=) c.84C>G (p.Val28=) n.327C>G n.351C>G | |
17 | g.75763922G= | CA2275671310 | GALK1 | c.330C= (p.Val110=) c.84C= (p.Val28=) n.327C= n.351C= | |
17 | g.75763922G>T | CA501842688 | GALK1 | c.330C>A (p.Val110=) c.84C>A (p.Val28=) n.327C>A n.351C>A | dbSNP |
17 | g.75763923A>C | CA401106325 | GALK1 | c.329T>G (p.Val110Gly) c.83T>G (p.Val28Gly) n.326T>G n.350T>G | |
17 | g.75763923A>G | CA401106326 | GALK1 | c.329T>C (p.Val110Ala) c.83T>C (p.Val28Ala) n.326T>C n.350T>C | |
17 | g.75763923A>T | CA401106330 | GALK1 | c.329T>A (p.Val110Asp) c.83T>A (p.Val28Asp) n.326T>A n.350T>A | |
17 | g.75763924C>A | CA401106332 | GALK1 | c.328G>T (p.Val110Phe) c.82G>T (p.Val28Phe) n.325G>T n.349G>T | |
17 | g.75763924C>G | CA401106333 | GALK1 | c.328G>C (p.Val110Leu) c.82G>C (p.Val28Leu) n.325G>C n.349G>C | |
17 | g.75763924C>T | CA401106336 | GALK1 | c.328G>A (p.Val110Ile) c.82G>A (p.Val28Ile) n.325G>A n.349G>A | |
17 | g.75763925A>C | CA401106342 | GALK1 | c.327T>G (p.Tyr109Ter) c.81T>G (p.Tyr27Ter) n.324T>G n.348T>G | |
17 | g.75763925A>G | CA501842689 | GALK1 | c.327T>C (p.Tyr109=) c.81T>C (p.Tyr27=) n.324T>C n.348T>C | |
17 | g.75763925A>T | CA401106339 | GALK1 | c.327T>A (p.Tyr109Ter) c.81T>A (p.Tyr27Ter) n.324T>A n.348T>A | |
17 | g.75763925dup | CA2639882044 | GALK1 | c.327dup (p.Val110CysfsTer?) c.327dup (p.Val110CysfsTer18) c.81dup (p.Val28CysfsTer?) n.324dup n.348dup | ClinVar gnomAD v4 |
17 | g.75763926T>A | CA401106344 | GALK1 | c.326A>T (p.Tyr109Phe) c.80A>T (p.Tyr27Phe) n.323A>T n.347A>T | |
17 | g.75763926T>C | CA8770996 | GALK1 | c.326A>G (p.Tyr109Cys) c.80A>G (p.Tyr27Cys) n.323A>G n.347A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75763926T>G | CA401106349 | GALK1 | c.326A>C (p.Tyr109Ser) c.80A>C (p.Tyr27Ser) n.323A>C n.347A>C | |
17 | g.75763926T= | CA2275671311 | GALK1 | c.326A= (p.Tyr109=) c.80A= (p.Tyr27=) n.323A= n.347A= | |
17 | g.75763927A>C | CA401106361 | GALK1 | c.325T>G (p.Tyr109Asp) c.79T>G (p.Tyr27Asp) n.322T>G n.346T>G | |
17 | g.75763927A>G | CA401106364 | GALK1 | c.325T>C (p.Tyr109His) c.79T>C (p.Tyr27His) n.322T>C n.346T>C | |
17 | g.75763927A>T | CA401106367 | GALK1 | c.325T>A (p.Tyr109Asn) c.79T>A (p.Tyr27Asn) n.322T>A n.346T>A | |
17 | g.75763928G>A | CA501842690 | GALK1 | c.324C>T (p.Asn108=) c.78C>T (p.Asn26=) n.321C>T n.345C>T | ClinVar dbSNP |