| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.72667425C>A | CA413594514 | PHKA1 | c.667G>T (p.Gly223Trp) n.810G>T | |
| X | g.72667425C= | CA2436843981 | PHKA1 | c.667G= (p.Gly223=) n.810G= | |
| X | g.72667425C>G | CA413594515 | PHKA1 | c.667G>C (p.Gly223Arg) n.810G>C | |
| X | g.72667425C>T | CA120816 | PHKA1 | c.667G>A (p.Gly223Arg) n.810G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.72667426A>C | CA516753826 | PHKA1 | c.666T>G (p.Gly222=) n.809T>G | |
| X | g.72667426A>G | CA516753827 | PHKA1 | c.666T>C (p.Gly222=) n.809T>C | |
| X | g.72667426A>T | CA516753828 | PHKA1 | c.666T>A (p.Gly222=) n.809T>A | |
| X | g.72667427C>A | CA413594516 | PHKA1 | c.665G>T (p.Gly222Val) n.808G>T | ClinVar |
| X | g.72667427C>G | CA413594517 | PHKA1 | c.665G>C (p.Gly222Ala) n.808G>C | |
| X | g.72667427C>T | CA413594518 | PHKA1 | c.665G>A (p.Gly222Asp) n.808G>A | |
| X | g.72667428C>A | CA413594519 | PHKA1 | c.664G>T (p.Gly222Cys) n.807G>T | ClinVar |
| X | g.72667428C>G | CA413594521 | PHKA1 | c.664G>C (p.Gly222Arg) n.807G>C | |
| X | g.72667428C>T | CA413594520 | PHKA1 | c.664G>A (p.Gly222Ser) n.807G>A | gnomAD v4 |
| X | g.72667429T>A | CA413594522 | PHKA1 | c.663A>T (p.Lys221Asn) n.806A>T | |
| X | g.72667429T>C | CA10451014 | PHKA1 | c.663A>G (p.Lys221=) n.806A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.72667429T>G | CA413594523 | PHKA1 | c.663A>C (p.Lys221Asn) n.806A>C | |
| X | g.72667429T= | CA2436843982 | PHKA1 | c.663A= (p.Lys221=) n.806A= | |
| X | g.72667430T>A | CA413594524 | PHKA1 | c.662A>T (p.Lys221Ile) n.805A>T | |
| X | g.72667430T>C | CA413594525 | PHKA1 | c.662A>G (p.Lys221Arg) n.805A>G | |
| X | g.72667430T>G | CA413594526 | PHKA1 | c.662A>C (p.Lys221Thr) n.805A>C | |
| X | g.72667431T>A | CA413594527 | PHKA1 | c.661A>T (p.Lys221Ter) n.804A>T | |
| X | g.72667431T>C | CA413594528 | PHKA1 | c.661A>G (p.Lys221Glu) n.804A>G | |
| X | g.72667431T>G | CA413594529 | PHKA1 | c.661A>C (p.Lys221Gln) n.804A>C | |
| X | g.72667432C>A | CA516753829 | PHKA1 | c.660G>T (p.Val220=) n.803G>T | |
| X | g.72667432C>G | CA516753830 | PHKA1 | c.660G>C (p.Val220=) n.803G>C | |
| X | g.72667432C>T | CA516753831 | PHKA1 | c.660G>A (p.Val220=) n.803G>A | gnomAD v4 |
| X | g.72667433A>C | CA413594530 | PHKA1 | c.659T>G (p.Val220Gly) n.802T>G | |
| X | g.72667433A>G | CA413594531 | PHKA1 | c.659T>C (p.Val220Ala) n.802T>C | |
| X | g.72667433A>T | CA413594532 | PHKA1 | c.659T>A (p.Val220Glu) n.802T>A | |
| X | g.72667434C>A | CA10451016 | PHKA1 | c.658G>T (p.Val220Leu) n.801G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.72667434C= | CA2436843983 | PHKA1 | c.658G= (p.Val220=) n.801G= | |
| X | g.72667434C>G | CA413594533 | PHKA1 | c.658G>C (p.Val220Leu) n.801G>C | |
| X | g.72667434C>T | CA10451015 | PHKA1 | c.658G>A (p.Val220Met) n.801G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.72667435A>C | CA516753832 | PHKA1 | c.657T>G (p.Gly219=) n.800T>G | |
| X | g.72667435A>G | CA516753833 | PHKA1 | c.657T>C (p.Gly219=) n.800T>C | |
| X | g.72667435A>T | CA516753834 | PHKA1 | c.657T>A (p.Gly219=) n.800T>A | |
| X | g.72667436C>A | CA413594534 | PHKA1 | c.656G>T (p.Gly219Val) n.799G>T | |
| X | g.72667436C>G | CA413594535 | PHKA1 | c.656G>C (p.Gly219Ala) n.799G>C | |
| X | g.72667436C>T | CA413594536 | PHKA1 | c.656G>A (p.Gly219Asp) n.799G>A | |
| X | g.72667437C>A | CA413594537 | PHKA1 | c.655G>T (p.Gly219Cys) n.798G>T | gnomAD v4 |
| X | g.72667437C>G | CA413594538 | PHKA1 | c.655G>C (p.Gly219Arg) n.798G>C | |
| X | g.72667437C>T | CA413594539 | PHKA1 | c.655G>A (p.Gly219Ser) n.798G>A | gnomAD v4 |
| X | g.72667438A>C | CA413594541 | PHKA1 | c.654T>G (p.Phe218Leu) n.797T>G | |
| X | g.72667438A>G | CA516753835 | PHKA1 | c.654T>C (p.Phe218=) n.797T>C | |
| X | g.72667438A>T | CA413594540 | PHKA1 | c.654T>A (p.Phe218Leu) n.797T>A | |
| X | g.72667439A>C | CA413594542 | PHKA1 | c.653T>G (p.Phe218Cys) n.796T>G | |
| X | g.72667439A>G | CA413594543 | PHKA1 | c.653T>C (p.Phe218Ser) n.796T>C | |
| X | g.72667439A>T | CA413594544 | PHKA1 | c.653T>A (p.Phe218Tyr) n.796T>A | |
| X | g.72667440A>C | CA413594545 | PHKA1 | c.652T>G (p.Phe218Val) n.795T>G | |
| X | g.72667440A>G | CA413594546 | PHKA1 | c.652T>C (p.Phe218Leu) n.795T>C | gnomAD v4 |