| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.43122459T>A | CA371122332 | POMK | c.635T>A (p.Leu212Gln) c.*431T>A (n.*431T>A) c.353T>A (p.Leu118Gln) c.*555T>A (n.*555T>A) c.593T>A (p.Leu198Gln) c.*420T>A (n.*420T>A) | |
| 8 | g.43122459T>C | CA371122333 | POMK | c.635T>C (p.Leu212Pro) c.*431T>C (n.*431T>C) c.353T>C (p.Leu118Pro) c.*555T>C (n.*555T>C) c.593T>C (p.Leu198Pro) c.*420T>C (n.*420T>C) | gnomAD v4 |
| 8 | g.43122459T>G | CA371122334 | POMK | c.635T>G (p.Leu212Arg) c.*431T>G (n.*431T>G) c.353T>G (p.Leu118Arg) c.*555T>G (n.*555T>G) c.593T>G (p.Leu198Arg) c.*420T>G (n.*420T>G) | |
| 8 | g.43122460G>A | CA460787248 | POMK | c.636G>A (p.Leu212=) c.*432G>A (n.*432G>A) c.354G>A (p.Leu118=) c.*556G>A (n.*556G>A) c.594G>A (p.Leu198=) c.*421G>A (n.*421G>A) | gnomAD v4 |
| 8 | g.43122460G>C | CA460787250 | POMK | c.636G>C (p.Leu212=) c.*432G>C (n.*432G>C) c.354G>C (p.Leu118=) c.*556G>C (n.*556G>C) c.594G>C (p.Leu198=) c.*421G>C (n.*421G>C) | |
| 8 | g.43122460G>T | CA460787249 | POMK | c.636G>T (p.Leu212=) c.*432G>T (n.*432G>T) c.354G>T (p.Leu118=) c.*556G>T (n.*556G>T) c.594G>T (p.Leu198=) c.*421G>T (n.*421G>T) | |
| 8 | g.43122461T>A | CA371122335 | POMK | c.637T>A (p.Ser213Thr) c.*433T>A (n.*433T>A) c.355T>A (p.Ser119Thr) c.*557T>A (n.*557T>A) c.595T>A (p.Ser199Thr) c.*422T>A (n.*422T>A) | |
| 8 | g.43122461T>C | CA371122336 | POMK | c.637T>C (p.Ser213Pro) c.*433T>C (n.*433T>C) c.355T>C (p.Ser119Pro) c.*557T>C (n.*557T>C) c.595T>C (p.Ser199Pro) c.*422T>C (n.*422T>C) | COSMIC COSMIC |
| 8 | g.43122461T>G | CA371122337 | POMK | c.637T>G (p.Ser213Ala) c.*433T>G (n.*433T>G) c.355T>G (p.Ser119Ala) c.*557T>G (n.*557T>G) c.595T>G (p.Ser199Ala) c.*422T>G (n.*422T>G) | |
| 8 | g.43122462C>A | CA371122338 | POMK | c.638C>A (p.Ser213Tyr) c.*434C>A (n.*434C>A) c.356C>A (p.Ser119Tyr) c.*558C>A (n.*558C>A) c.596C>A (p.Ser199Tyr) c.*423C>A (n.*423C>A) | |
| 8 | g.43122462C= | CA1779747471 | POMK | c.638C= (p.Ser213=) c.*434C= (n.*434C=) c.356C= (p.Ser119=) c.*558C= (n.*558C=) c.596C= (p.Ser199=) c.*423C= (n.*423C=) | |
| 8 | g.43122462C>G | CA371122339 | POMK | c.638C>G (p.Ser213Cys) c.*434C>G (n.*434C>G) c.356C>G (p.Ser119Cys) c.*558C>G (n.*558C>G) c.596C>G (p.Ser199Cys) c.*423C>G (n.*423C>G) | |
| 8 | g.43122462C>T | CA4736329 | POMK | c.638C>T (p.Ser213Phe) c.*434C>T (n.*434C>T) c.356C>T (p.Ser119Phe) c.*558C>T (n.*558C>T) c.596C>T (p.Ser199Phe) c.*423C>T (n.*423C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122463C>A | CA460787253 | POMK | c.639C>A (p.Ser213=) c.*435C>A (n.*435C>A) c.357C>A (p.Ser119=) c.*559C>A (n.*559C>A) c.597C>A (p.Ser199=) c.*424C>A (n.*424C>A) | |
| 8 | g.43122463C= | CA1779747474 | POMK | c.639C= (p.Ser213=) c.*435C= (n.*435C=) c.357C= (p.Ser119=) c.*559C= (n.*559C=) c.597C= (p.Ser199=) c.*424C= (n.*424C=) | |
| 8 | g.43122463C>G | CA460787252 | POMK | c.639C>G (p.Ser213=) c.*435C>G (n.*435C>G) c.357C>G (p.Ser119=) c.*559C>G (n.*559C>G) c.597C>G (p.Ser199=) c.*424C>G (n.*424C>G) | gnomAD v4 |
| 8 | g.43122463C>T | CA460787251 | POMK | c.639C>T (p.Ser213=) c.*435C>T (n.*435C>T) c.357C>T (p.Ser119=) c.*559C>T (n.*559C>T) c.597C>T (p.Ser199=) c.*424C>T (n.*424C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122463_43122466del | CA2687148390 | POMK | c.639_642del (p.Gln214IlefsTer3) c.*435_*438del (n.*435_*438del) c.357_360del (p.Gln120IlefsTer3) c.*559_*562del (n.*559_*562del) c.597_600del (p.Gln200IlefsTer3) c.*424_*427del (n.*424_*427del) | gnomAD v4 |
| 8 | g.43122464C>A | CA371122342 | POMK | c.640C>A (p.Gln214Lys) c.*436C>A (n.*436C>A) c.358C>A (p.Gln120Lys) c.*560C>A (n.*560C>A) c.598C>A (p.Gln200Lys) c.*425C>A (n.*425C>A) | |
| 8 | g.43122464C>G | CA371122340 | POMK | c.640C>G (p.Gln214Glu) c.*436C>G (n.*436C>G) c.358C>G (p.Gln120Glu) c.*560C>G (n.*560C>G) c.598C>G (p.Gln200Glu) c.*425C>G (n.*425C>G) | |
| 8 | g.43122464C>T | CA371122341 | POMK | c.640C>T (p.Gln214Ter) c.*436C>T (n.*436C>T) c.358C>T (p.Gln120Ter) c.*560C>T (n.*560C>T) c.598C>T (p.Gln200Ter) c.*425C>T (n.*425C>T) | gnomAD v4 |
| 8 | g.43122464_43122467dup | CA581929128 | POMK | c.640_643dup (p.Tyr215SerfsTer14) c.*436_*439dup (n.*436_*439dup) c.358_361dup (p.Tyr121SerfsTer14) c.*560_*563dup (n.*560_*563dup) c.598_601dup (p.Tyr201SerfsTer14) c.*425_*428dup (n.*425_*428dup) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122465A= | CA1779747478 | POMK | c.641A= (p.Gln214=) c.*437A= (n.*437A=) c.359A= (p.Gln120=) c.*561A= (n.*561A=) c.599A= (p.Gln200=) c.*426A= (n.*426A=) | |
| 8 | g.43122465A>C | CA371122343 | POMK | c.641A>C (p.Gln214Pro) c.*437A>C (n.*437A>C) c.359A>C (p.Gln120Pro) c.*561A>C (n.*561A>C) c.599A>C (p.Gln200Pro) c.*426A>C (n.*426A>C) | gnomAD v4 |
| 8 | g.43122465A>G | CA371122344 | POMK | c.641A>G (p.Gln214Arg) c.*437A>G (n.*437A>G) c.359A>G (p.Gln120Arg) c.*561A>G (n.*561A>G) c.599A>G (p.Gln200Arg) c.*426A>G (n.*426A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122465A>T | CA371122345 | POMK | c.641A>T (p.Gln214Leu) c.*437A>T (n.*437A>T) c.359A>T (p.Gln120Leu) c.*561A>T (n.*561A>T) c.599A>T (p.Gln200Leu) c.*426A>T (n.*426A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122466G>A | CA4736330 | POMK | c.642G>A (p.Gln214=) c.*438G>A (n.*438G>A) c.360G>A (p.Gln120=) c.*562G>A (n.*562G>A) c.600G>A (p.Gln200=) c.*427G>A (n.*427G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122466G>C | CA371122346 | POMK | c.642G>C (p.Gln214His) c.*438G>C (n.*438G>C) c.360G>C (p.Gln120His) c.*562G>C (n.*562G>C) c.600G>C (p.Gln200His) c.*427G>C (n.*427G>C) | |
| 8 | g.43122466G= | CA1779747484 | POMK | c.642G= (p.Gln214=) c.*438G= (n.*438G=) c.360G= (p.Gln120=) c.*562G= (n.*562G=) c.600G= (p.Gln200=) c.*427G= (n.*427G=) | |
| 8 | g.43122466G>T | CA176080190 | POMK | c.642G>T (p.Gln214His) c.*438G>T (n.*438G>T) c.360G>T (p.Gln120His) c.*562G>T (n.*562G>T) c.600G>T (p.Gln200His) c.*427G>T (n.*427G>T) | dbSNP |
| 8 | g.43122467T>A | CA371122347 | POMK | c.643T>A (p.Tyr215Asn) c.*439T>A (n.*439T>A) c.361T>A (p.Tyr121Asn) c.*563T>A (n.*563T>A) c.601T>A (p.Tyr201Asn) c.*428T>A (n.*428T>A) | |
| 8 | g.43122467T>C | CA371122348 | POMK | c.643T>C (p.Tyr215His) c.*439T>C (n.*439T>C) c.361T>C (p.Tyr121His) c.*563T>C (n.*563T>C) c.601T>C (p.Tyr201His) c.*428T>C (n.*428T>C) | COSMIC COSMIC |
| 8 | g.43122467T>G | CA371122349 | POMK | c.643T>G (p.Tyr215Asp) c.*439T>G (n.*439T>G) c.361T>G (p.Tyr121Asp) c.*563T>G (n.*563T>G) c.601T>G (p.Tyr201Asp) c.*428T>G (n.*428T>G) | |
| 8 | g.43122468del | CA2687148405 | POMK | c.644del (p.Tyr215PhefsTer3) c.*440del (n.*440del) c.362del (p.Tyr121PhefsTer3) c.*564del (n.*564del) c.602del (p.Tyr201PhefsTer3) c.*429del (n.*429del) | gnomAD v4 |
| 8 | g.43122468A= | CA1779747488 | POMK | c.644A= (p.Tyr215=) c.*440A= (n.*440A=) c.362A= (p.Tyr121=) c.*564A= (n.*564A=) c.602A= (p.Tyr201=) c.*429A= (n.*429A=) | |
| 8 | g.43122468A>C | CA371122350 | POMK | c.644A>C (p.Tyr215Ser) c.*440A>C (n.*440A>C) c.362A>C (p.Tyr121Ser) c.*564A>C (n.*564A>C) c.602A>C (p.Tyr201Ser) c.*429A>C (n.*429A>C) | |
| 8 | g.43122468A>G | CA371122351 | POMK | c.644A>G (p.Tyr215Cys) c.*440A>G (n.*440A>G) c.362A>G (p.Tyr121Cys) c.*564A>G (n.*564A>G) c.602A>G (p.Tyr201Cys) c.*429A>G (n.*429A>G) | |
| 8 | g.43122468A>T | CA371122352 | POMK | c.644A>T (p.Tyr215Phe) c.*440A>T (n.*440A>T) c.362A>T (p.Tyr121Phe) c.*564A>T (n.*564A>T) c.602A>T (p.Tyr201Phe) c.*429A>T (n.*429A>T) | dbSNP |
| 8 | g.43122469T>A | CA371122353 | POMK | c.645T>A (p.Tyr215Ter) c.*441T>A (n.*441T>A) c.363T>A (p.Tyr121Ter) c.*565T>A (n.*565T>A) c.603T>A (p.Tyr201Ter) c.*430T>A (n.*430T>A) | |
| 8 | g.43122469T>C | CA460787254 | POMK | c.645T>C (p.Tyr215=) c.*441T>C (n.*441T>C) c.363T>C (p.Tyr121=) c.*565T>C (n.*565T>C) c.603T>C (p.Tyr201=) c.*430T>C (n.*430T>C) | dbSNP |
| 8 | g.43122469T>G | CA371122354 | POMK | c.645T>G (p.Tyr215Ter) c.*441T>G (n.*441T>G) c.363T>G (p.Tyr121Ter) c.*565T>G (n.*565T>G) c.603T>G (p.Tyr201Ter) c.*430T>G (n.*430T>G) | ClinVar |
| 8 | g.43122469T= | CA1779747490 | POMK | c.645T= (p.Tyr215=) c.*441T= (n.*441T=) c.363T= (p.Tyr121=) c.*565T= (n.*565T=) c.603T= (p.Tyr201=) c.*430T= (n.*430T=) | |
| 8 | g.43122470C>A | CA371122355 | POMK | c.646C>A (p.Leu216Met) c.*442C>A (n.*442C>A) c.364C>A (p.Leu122Met) c.*566C>A (n.*566C>A) c.604C>A (p.Leu202Met) c.*431C>A (n.*431C>A) | |
| 8 | g.43122470C>G | CA371122356 | POMK | c.646C>G (p.Leu216Val) c.*442C>G (n.*442C>G) c.364C>G (p.Leu122Val) c.*566C>G (n.*566C>G) c.604C>G (p.Leu202Val) c.*431C>G (n.*431C>G) | |
| 8 | g.43122470C>T | CA460787255 | POMK | c.646C>T (p.Leu216=) c.*442C>T (n.*442C>T) c.364C>T (p.Leu122=) c.*566C>T (n.*566C>T) c.604C>T (p.Leu202=) c.*431C>T (n.*431C>T) | |
| 8 | g.43122471T>A | CA371122357 | POMK | c.647T>A (p.Leu216Gln) c.*443T>A (n.*443T>A) c.365T>A (p.Leu122Gln) c.*567T>A (n.*567T>A) c.605T>A (p.Leu202Gln) c.*432T>A (n.*432T>A) | |
| 8 | g.43122471T>C | CA371122358 | POMK | c.647T>C (p.Leu216Pro) c.*443T>C (n.*443T>C) c.365T>C (p.Leu122Pro) c.*567T>C (n.*567T>C) c.605T>C (p.Leu202Pro) c.*432T>C (n.*432T>C) | |
| 8 | g.43122471T>G | CA371122359 | POMK | c.647T>G (p.Leu216Arg) c.*443T>G (n.*443T>G) c.365T>G (p.Leu122Arg) c.*567T>G (n.*567T>G) c.605T>G (p.Leu202Arg) c.*432T>G (n.*432T>G) | gnomAD v4 |
| 8 | g.43122472G>A | CA460787256 | POMK | c.648G>A (p.Leu216=) c.*444G>A (n.*444G>A) c.366G>A (p.Leu122=) c.*568G>A (n.*568G>A) c.606G>A (p.Leu202=) c.*433G>A (n.*433G>A) | dbSNP |
| 8 | g.43122472G>C | CA460787257 | POMK | c.648G>C (p.Leu216=) c.*444G>C (n.*444G>C) c.366G>C (p.Leu122=) c.*568G>C (n.*568G>C) c.606G>C (p.Leu202=) c.*433G>C (n.*433G>C) | |
| 8 | g.43122472G= | CA1779747492 | POMK | c.648G= (p.Leu216=) c.*444G= (n.*444G=) c.366G= (p.Leu122=) c.*568G= (n.*568G=) c.606G= (p.Leu202=) c.*433G= (n.*433G=) | |
| 8 | g.43122472G>T | CA460787258 | POMK | c.648G>T (p.Leu216=) c.*444G>T (n.*444G>T) c.366G>T (p.Leu122=) c.*568G>T (n.*568G>T) c.606G>T (p.Leu202=) c.*433G>T (n.*433G>T) | |
| 8 | g.43122473C>A | CA4736331 | POMK | c.649C>A (p.Leu217Ile) c.*445C>A (n.*445C>A) c.367C>A (p.Leu123Ile) c.*569C>A (n.*569C>A) c.607C>A (p.Leu203Ile) c.*434C>A (n.*434C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122473C= | CA1779747496 | POMK | c.649C= (p.Leu217=) c.*445C= (n.*445C=) c.367C= (p.Leu123=) c.*569C= (n.*569C=) c.607C= (p.Leu203=) c.*434C= (n.*434C=) | |
| 8 | g.43122473C>G | CA371122360 | POMK | c.649C>G (p.Leu217Val) c.*445C>G (n.*445C>G) c.367C>G (p.Leu123Val) c.*569C>G (n.*569C>G) c.607C>G (p.Leu203Val) c.*434C>G (n.*434C>G) | gnomAD v4 |
| 8 | g.43122473C>T | CA460787259 | POMK | c.649C>T (p.Leu217=) c.*445C>T (n.*445C>T) c.367C>T (p.Leu123=) c.*569C>T (n.*569C>T) c.607C>T (p.Leu203=) c.*434C>T (n.*434C>T) | gnomAD v4 |
| 8 | g.43122474del | CA2687148409 | POMK | c.650del (p.Leu217GlnfsTer18) c.*446del (n.*446del) c.368del (p.Leu123GlnfsTer18) c.*570del (n.*570del) c.608del (p.Leu203GlnfsTer18) c.*435del (n.*435del) | gnomAD v4 |
| 8 | g.43122474T>A | CA371122363 | POMK | c.650T>A (p.Leu217Gln) c.*446T>A (n.*446T>A) c.368T>A (p.Leu123Gln) c.*570T>A (n.*570T>A) c.608T>A (p.Leu203Gln) c.*435T>A (n.*435T>A) | |
| 8 | g.43122474T>C | CA371122362 | POMK | c.650T>C (p.Leu217Pro) c.*446T>C (n.*446T>C) c.368T>C (p.Leu123Pro) c.*570T>C (n.*570T>C) c.608T>C (p.Leu203Pro) c.*435T>C (n.*435T>C) | |
| 8 | g.43122474T>G | CA371122361 | POMK | c.650T>G (p.Leu217Arg) c.*446T>G (n.*446T>G) c.368T>G (p.Leu123Arg) c.*570T>G (n.*570T>G) c.608T>G (p.Leu203Arg) c.*435T>G (n.*435T>G) | |
| 8 | g.43122475A>C | CA460787260 | POMK | c.651A>C (p.Leu217=) c.*447A>C (n.*447A>C) c.369A>C (p.Leu123=) c.*571A>C (n.*571A>C) c.609A>C (p.Leu203=) c.*436A>C (n.*436A>C) | |
| 8 | g.43122475A>G | CA460787261 | POMK | c.651A>G (p.Leu217=) c.*447A>G (n.*447A>G) c.369A>G (p.Leu123=) c.*571A>G (n.*571A>G) c.609A>G (p.Leu203=) c.*436A>G (n.*436A>G) | |
| 8 | g.43122475A>T | CA460787262 | POMK | c.651A>T (p.Leu217=) c.*447A>T (n.*447A>T) c.369A>T (p.Leu123=) c.*571A>T (n.*571A>T) c.609A>T (p.Leu203=) c.*436A>T (n.*436A>T) | |
| 8 | g.43122476A>C | CA371122364 | POMK | c.652A>C (p.Thr218Pro) c.*448A>C (n.*448A>C) c.370A>C (p.Thr124Pro) c.*572A>C (n.*572A>C) c.610A>C (p.Thr204Pro) c.*437A>C (n.*437A>C) | |
| 8 | g.43122476A>G | CA371122365 | POMK | c.652A>G (p.Thr218Ala) c.*448A>G (n.*448A>G) c.370A>G (p.Thr124Ala) c.*572A>G (n.*572A>G) c.610A>G (p.Thr204Ala) c.*437A>G (n.*437A>G) | |
| 8 | g.43122476A>T | CA371122366 | POMK | c.652A>T (p.Thr218Ser) c.*448A>T (n.*448A>T) c.370A>T (p.Thr124Ser) c.*572A>T (n.*572A>T) c.610A>T (p.Thr204Ser) c.*437A>T (n.*437A>T) | |
| 8 | g.43122477C>A | CA4736332 | POMK | c.653C>A (p.Thr218Lys) c.*449C>A (n.*449C>A) c.371C>A (p.Thr124Lys) c.*573C>A (n.*573C>A) c.611C>A (p.Thr204Lys) c.*438C>A (n.*438C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122477C= | CA1779747500 | POMK | c.653C= (p.Thr218=) c.*449C= (n.*449C=) c.371C= (p.Thr124=) c.*573C= (n.*573C=) c.611C= (p.Thr204=) c.*438C= (n.*438C=) | |
| 8 | g.43122477C>G | CA371122367 | POMK | c.653C>G (p.Thr218Arg) c.*449C>G (n.*449C>G) c.371C>G (p.Thr124Arg) c.*573C>G (n.*573C>G) c.611C>G (p.Thr204Arg) c.*438C>G (n.*438C>G) | |
| 8 | g.43122477C>T | CA4736333 | POMK | c.653C>T (p.Thr218Ile) c.*449C>T (n.*449C>T) c.371C>T (p.Thr124Ile) c.*573C>T (n.*573C>T) c.611C>T (p.Thr204Ile) c.*438C>T (n.*438C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122478A>C | CA460787263 | POMK | c.654A>C (p.Thr218=) c.*450A>C (n.*450A>C) c.372A>C (p.Thr124=) c.*574A>C (n.*574A>C) c.612A>C (p.Thr204=) c.*439A>C (n.*439A>C) | |
| 8 | g.43122478A>G | CA460787264 | POMK | c.654A>G (p.Thr218=) c.*450A>G (n.*450A>G) c.372A>G (p.Thr124=) c.*574A>G (n.*574A>G) c.612A>G (p.Thr204=) c.*439A>G (n.*439A>G) | gnomAD v4 |
| 8 | g.43122478A>T | CA460787265 | POMK | c.654A>T (p.Thr218=) c.*450A>T (n.*450A>T) c.372A>T (p.Thr124=) c.*574A>T (n.*574A>T) c.612A>T (p.Thr204=) c.*439A>T (n.*439A>T) | |
| 8 | g.43122479A>C | CA371122368 | POMK | c.655A>C (p.Ser219Arg) c.*451A>C (n.*451A>C) c.373A>C (p.Ser125Arg) c.*575A>C (n.*575A>C) c.613A>C (p.Ser205Arg) c.*440A>C (n.*440A>C) | |
| 8 | g.43122479A>G | CA371122370 | POMK | c.655A>G (p.Ser219Gly) c.*451A>G (n.*451A>G) c.373A>G (p.Ser125Gly) c.*575A>G (n.*575A>G) c.613A>G (p.Ser205Gly) c.*440A>G (n.*440A>G) | |
| 8 | g.43122479A>T | CA371122369 | POMK | c.655A>T (p.Ser219Cys) c.*451A>T (n.*451A>T) c.373A>T (p.Ser125Cys) c.*575A>T (n.*575A>T) c.613A>T (p.Ser205Cys) c.*440A>T (n.*440A>T) | |
| 8 | g.43122480G>A | CA371122371 | POMK | c.656G>A (p.Ser219Asn) c.*452G>A (n.*452G>A) c.374G>A (p.Ser125Asn) c.*576G>A (n.*576G>A) c.614G>A (p.Ser205Asn) c.*441G>A (n.*441G>A) | |
| 8 | g.43122480G>C | CA371122372 | POMK | c.656G>C (p.Ser219Thr) c.*452G>C (n.*452G>C) c.374G>C (p.Ser125Thr) c.*576G>C (n.*576G>C) c.614G>C (p.Ser205Thr) c.*441G>C (n.*441G>C) | |
| 8 | g.43122480G>T | CA371122373 | POMK | c.656G>T (p.Ser219Ile) c.*452G>T (n.*452G>T) c.374G>T (p.Ser125Ile) c.*576G>T (n.*576G>T) c.614G>T (p.Ser205Ile) c.*441G>T (n.*441G>T) | |
| 8 | g.43122481C>A | CA371122374 | POMK | c.657C>A (p.Ser219Arg) c.*453C>A (n.*453C>A) c.375C>A (p.Ser125Arg) c.*577C>A (n.*577C>A) c.615C>A (p.Ser205Arg) c.*442C>A (n.*442C>A) | ClinVar dbSNP |
| 8 | g.43122481C= | CA1779747503 | POMK | c.657C= (p.Ser219=) c.*453C= (n.*453C=) c.375C= (p.Ser125=) c.*577C= (n.*577C=) c.615C= (p.Ser205=) c.*442C= (n.*442C=) | |
| 8 | g.43122481C>G | CA371122375 | POMK | c.657C>G (p.Ser219Arg) c.*453C>G (n.*453C>G) c.375C>G (p.Ser125Arg) c.*577C>G (n.*577C>G) c.615C>G (p.Ser205Arg) c.*442C>G (n.*442C>G) | |
| 8 | g.43122481C>T | CA460787266 | POMK | c.657C>T (p.Ser219=) c.*453C>T (n.*453C>T) c.375C>T (p.Ser125=) c.*577C>T (n.*577C>T) c.615C>T (p.Ser205=) c.*442C>T (n.*442C>T) | |
| 8 | g.43122482A= | CA1779747507 | POMK | c.658A= (p.Asn220=) c.*454A= (n.*454A=) c.376A= (p.Asn126=) c.*578A= (n.*578A=) c.616A= (p.Asn206=) c.*443A= (n.*443A=) | |
| 8 | g.43122482A>C | CA371122376 | POMK | c.658A>C (p.Asn220His) c.*454A>C (n.*454A>C) c.376A>C (p.Asn126His) c.*578A>C (n.*578A>C) c.616A>C (p.Asn206His) c.*443A>C (n.*443A>C) | |
| 8 | g.43122482A>G | CA371122377 | POMK | c.658A>G (p.Asn220Asp) c.*454A>G (n.*454A>G) c.376A>G (p.Asn126Asp) c.*578A>G (n.*578A>G) c.616A>G (p.Asn206Asp) c.*443A>G (n.*443A>G) | dbSNP |
| 8 | g.43122482A>T | CA371122378 | POMK | c.658A>T (p.Asn220Tyr) c.*454A>T (n.*454A>T) c.376A>T (p.Asn126Tyr) c.*578A>T (n.*578A>T) c.616A>T (p.Asn206Tyr) c.*443A>T (n.*443A>T) | |
| 8 | g.43122483A>C | CA371122379 | POMK | c.659A>C (p.Asn220Thr) c.*455A>C (n.*455A>C) c.377A>C (p.Asn126Thr) c.*579A>C (n.*579A>C) c.617A>C (p.Asn206Thr) c.*444A>C (n.*444A>C) | |
| 8 | g.43122483A>G | CA371122380 | POMK | c.659A>G (p.Asn220Ser) c.*455A>G (n.*455A>G) c.377A>G (p.Asn126Ser) c.*579A>G (n.*579A>G) c.617A>G (p.Asn206Ser) c.*444A>G (n.*444A>G) | |
| 8 | g.43122483A>T | CA371122381 | POMK | c.659A>T (p.Asn220Ile) c.*455A>T (n.*455A>T) c.377A>T (p.Asn126Ile) c.*579A>T (n.*579A>T) c.617A>T (p.Asn206Ile) c.*444A>T (n.*444A>T) | |
| 8 | g.43122484C>A | CA371122383 | POMK | c.660C>A (p.Asn220Lys) c.*456C>A (n.*456C>A) c.378C>A (p.Asn126Lys) c.*580C>A (n.*580C>A) c.618C>A (p.Asn206Lys) c.*445C>A (n.*445C>A) | |
| 8 | g.43122484C= | CA1779747511 | POMK | c.660C= (p.Asn220=) c.*456C= (n.*456C=) c.378C= (p.Asn126=) c.*580C= (n.*580C=) c.618C= (p.Asn206=) c.*445C= (n.*445C=) | |
| 8 | g.43122484C>G | CA371122382 | POMK | c.660C>G (p.Asn220Lys) c.*456C>G (n.*456C>G) c.378C>G (p.Asn126Lys) c.*580C>G (n.*580C>G) c.618C>G (p.Asn206Lys) c.*445C>G (n.*445C>G) | |
| 8 | g.43122484C>T | CA460787267 | POMK | c.660C>T (p.Asn220=) c.*456C>T (n.*456C>T) c.378C>T (p.Asn126=) c.*580C>T (n.*580C>T) c.618C>T (p.Asn206=) c.*445C>T (n.*445C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122485T>A | CA371122384 | POMK | c.661T>A (p.Phe221Ile) c.*457T>A (n.*457T>A) c.379T>A (p.Phe127Ile) c.*581T>A (n.*581T>A) c.619T>A (p.Phe207Ile) c.*446T>A (n.*446T>A) | |
| 8 | g.43122485T>C | CA371122385 | POMK | c.661T>C (p.Phe221Leu) c.*457T>C (n.*457T>C) c.379T>C (p.Phe127Leu) c.*581T>C (n.*581T>C) c.619T>C (p.Phe207Leu) c.*446T>C (n.*446T>C) | ClinVar dbSNP |
| 8 | g.43122485T>G | CA371122386 | POMK | c.661T>G (p.Phe221Val) c.*457T>G (n.*457T>G) c.379T>G (p.Phe127Val) c.*581T>G (n.*581T>G) c.619T>G (p.Phe207Val) c.*446T>G (n.*446T>G) | |
| 8 | g.43122485T= | CA1779747516 | POMK | c.661T= (p.Phe221=) c.*457T= (n.*457T=) c.379T= (p.Phe127=) c.*581T= (n.*581T=) c.619T= (p.Phe207=) c.*446T= (n.*446T=) | |
| 8 | g.43122486T>A | CA371122387 | POMK | c.662T>A (p.Phe221Tyr) c.*458T>A (n.*458T>A) c.380T>A (p.Phe127Tyr) c.*582T>A (n.*582T>A) c.620T>A (p.Phe207Tyr) c.*447T>A (n.*447T>A) | |
| 8 | g.43122486T>C | CA176080209 | POMK | c.662T>C (p.Phe221Ser) c.*458T>C (n.*458T>C) c.380T>C (p.Phe127Ser) c.*582T>C (n.*582T>C) c.620T>C (p.Phe207Ser) c.*447T>C (n.*447T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122486T>G | CA371122388 | POMK | c.662T>G (p.Phe221Cys) c.*458T>G (n.*458T>G) c.380T>G (p.Phe127Cys) c.*582T>G (n.*582T>G) c.620T>G (p.Phe207Cys) c.*447T>G (n.*447T>G) | |
| 8 | g.43122486T= | CA1779747521 | POMK | c.662T= (p.Phe221=) c.*458T= (n.*458T=) c.380T= (p.Phe127=) c.*582T= (n.*582T=) c.620T= (p.Phe207=) c.*447T= (n.*447T=) | |
| 8 | g.43122487C>A | CA4736334 | POMK | c.663C>A (p.Phe221Leu) c.*459C>A (n.*459C>A) c.381C>A (p.Phe127Leu) c.*583C>A (n.*583C>A) c.621C>A (p.Phe207Leu) c.*448C>A (n.*448C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122487C= | CA1779747526 | POMK | c.663C= (p.Phe221=) c.*459C= (n.*459C=) c.381C= (p.Phe127=) c.*583C= (n.*583C=) c.621C= (p.Phe207=) c.*448C= (n.*448C=) | |
| 8 | g.43122487C>G | CA371122389 | POMK | c.663C>G (p.Phe221Leu) c.*459C>G (n.*459C>G) c.381C>G (p.Phe127Leu) c.*583C>G (n.*583C>G) c.621C>G (p.Phe207Leu) c.*448C>G (n.*448C>G) | |
| 8 | g.43122487C>T | CA176080216 | POMK | c.663C>T (p.Phe221=) c.*459C>T (n.*459C>T) c.381C>T (p.Phe127=) c.*583C>T (n.*583C>T) c.621C>T (p.Phe207=) c.*448C>T (n.*448C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122488A>C | CA371122390 | POMK | c.664A>C (p.Ser222Arg) c.*460A>C (n.*460A>C) c.382A>C (p.Ser128Arg) c.*584A>C (n.*584A>C) c.622A>C (p.Ser208Arg) c.*449A>C (n.*449A>C) | |
| 8 | g.43122488A>G | CA371122391 | POMK | c.664A>G (p.Ser222Gly) c.*460A>G (n.*460A>G) c.382A>G (p.Ser128Gly) c.*584A>G (n.*584A>G) c.622A>G (p.Ser208Gly) c.*449A>G (n.*449A>G) | gnomAD v4 |
| 8 | g.43122488A>T | CA371122392 | POMK | c.664A>T (p.Ser222Cys) c.*460A>T (n.*460A>T) c.382A>T (p.Ser128Cys) c.*584A>T (n.*584A>T) c.622A>T (p.Ser208Cys) c.*449A>T (n.*449A>T) | |
| 8 | g.43122489G>A | CA371122393 | POMK | c.665G>A (p.Ser222Asn) c.*461G>A (n.*461G>A) c.383G>A (p.Ser128Asn) c.*585G>A (n.*585G>A) c.623G>A (p.Ser208Asn) c.*450G>A (n.*450G>A) | |
| 8 | g.43122489G>C | CA371122394 | POMK | c.665G>C (p.Ser222Thr) c.*461G>C (n.*461G>C) c.383G>C (p.Ser128Thr) c.*585G>C (n.*585G>C) c.623G>C (p.Ser208Thr) c.*450G>C (n.*450G>C) | |
| 8 | g.43122489G>T | CA371122395 | POMK | c.665G>T (p.Ser222Ile) c.*461G>T (n.*461G>T) c.383G>T (p.Ser128Ile) c.*585G>T (n.*585G>T) c.623G>T (p.Ser208Ile) c.*450G>T (n.*450G>T) | |
| 8 | g.43122490C>A | CA371122397 | POMK | c.666C>A (p.Ser222Arg) c.*462C>A (n.*462C>A) c.384C>A (p.Ser128Arg) c.*586C>A (n.*586C>A) c.624C>A (p.Ser208Arg) c.*451C>A (n.*451C>A) | |
| 8 | g.43122490C>G | CA371122396 | POMK | c.666C>G (p.Ser222Arg) c.*462C>G (n.*462C>G) c.384C>G (p.Ser128Arg) c.*586C>G (n.*586C>G) c.624C>G (p.Ser208Arg) c.*451C>G (n.*451C>G) | |
| 8 | g.43122490C>T | CA460787268 | POMK | c.666C>T (p.Ser222=) c.*462C>T (n.*462C>T) c.384C>T (p.Ser128=) c.*586C>T (n.*586C>T) c.624C>T (p.Ser208=) c.*451C>T (n.*451C>T) | |
| 8 | g.43122491A>C | CA371122398 | POMK | c.667A>C (p.Ile223Leu) c.*463A>C (n.*463A>C) c.385A>C (p.Ile129Leu) c.*587A>C (n.*587A>C) c.625A>C (p.Ile209Leu) c.*452A>C (n.*452A>C) | |
| 8 | g.43122491A>G | CA371122399 | POMK | c.667A>G (p.Ile223Val) c.*463A>G (n.*463A>G) c.385A>G (p.Ile129Val) c.*587A>G (n.*587A>G) c.625A>G (p.Ile209Val) c.*452A>G (n.*452A>G) | ClinVar gnomAD v4 |
| 8 | g.43122491A>T | CA371122400 | POMK | c.667A>T (p.Ile223Phe) c.*463A>T (n.*463A>T) c.385A>T (p.Ile129Phe) c.*587A>T (n.*587A>T) c.625A>T (p.Ile209Phe) c.*452A>T (n.*452A>T) | |
| 8 | g.43122492T>A | CA371122401 | POMK | c.668T>A (p.Ile223Asn) c.*464T>A (n.*464T>A) c.386T>A (p.Ile129Asn) c.*588T>A (n.*588T>A) c.626T>A (p.Ile209Asn) c.*453T>A (n.*453T>A) | |
| 8 | g.43122492T>C | CA371122402 | POMK | c.668T>C (p.Ile223Thr) c.*464T>C (n.*464T>C) c.386T>C (p.Ile129Thr) c.*588T>C (n.*588T>C) c.626T>C (p.Ile209Thr) c.*453T>C (n.*453T>C) | |
| 8 | g.43122492T>G | CA371122403 | POMK | c.668T>G (p.Ile223Ser) c.*464T>G (n.*464T>G) c.386T>G (p.Ile129Ser) c.*588T>G (n.*588T>G) c.626T>G (p.Ile209Ser) c.*453T>G (n.*453T>G) | |
| 8 | g.43122493T>A | CA460787283 | POMK | c.669T>A (p.Ile223=) c.*465T>A (n.*465T>A) c.387T>A (p.Ile129=) c.*589T>A (n.*589T>A) c.627T>A (p.Ile209=) c.*454T>A (n.*454T>A) | |
| 8 | g.43122493T>C | CA460787284 | POMK | c.669T>C (p.Ile223=) c.*465T>C (n.*465T>C) c.387T>C (p.Ile129=) c.*589T>C (n.*589T>C) c.627T>C (p.Ile209=) c.*454T>C (n.*454T>C) | |
| 8 | g.43122493T>G | CA371122404 | POMK | c.669T>G (p.Ile223Met) c.*465T>G (n.*465T>G) c.387T>G (p.Ile129Met) c.*589T>G (n.*589T>G) c.627T>G (p.Ile209Met) c.*454T>G (n.*454T>G) | |
| 8 | g.43122494T>A | CA371122405 | POMK | c.670T>A (p.Leu224Met) c.*466T>A (n.*466T>A) c.388T>A (p.Leu130Met) c.*590T>A (n.*590T>A) c.628T>A (p.Leu210Met) c.*455T>A (n.*455T>A) | |
| 8 | g.43122494T>C | CA460787285 | POMK | c.670T>C (p.Leu224=) c.*466T>C (n.*466T>C) c.388T>C (p.Leu130=) c.*590T>C (n.*590T>C) c.628T>C (p.Leu210=) c.*455T>C (n.*455T>C) | |
| 8 | g.43122494T>G | CA371122406 | POMK | c.670T>G (p.Leu224Val) c.*466T>G (n.*466T>G) c.388T>G (p.Leu130Val) c.*590T>G (n.*590T>G) c.628T>G (p.Leu210Val) c.*455T>G (n.*455T>G) | |
| 8 | g.43122495T>A | CA371122407 | POMK | c.671T>A (p.Leu224Ter) c.*467T>A (n.*467T>A) c.389T>A (p.Leu130Ter) c.*591T>A (n.*591T>A) c.629T>A (p.Leu210Ter) c.*456T>A (n.*456T>A) | |
| 8 | g.43122495T>C | CA371122408 | POMK | c.671T>C (p.Leu224Ser) c.*467T>C (n.*467T>C) c.389T>C (p.Leu130Ser) c.*591T>C (n.*591T>C) c.629T>C (p.Leu210Ser) c.*456T>C (n.*456T>C) | |
| 8 | g.43122495T>G | CA371122409 | POMK | c.671T>G (p.Leu224Trp) c.*467T>G (n.*467T>G) c.389T>G (p.Leu130Trp) c.*591T>G (n.*591T>G) c.629T>G (p.Leu210Trp) c.*456T>G (n.*456T>G) | |
| 8 | g.43122496G>A | CA460787289 | POMK | c.672G>A (p.Leu224=) c.*468G>A (n.*468G>A) c.390G>A (p.Leu130=) c.*592G>A (n.*592G>A) c.630G>A (p.Leu210=) c.*457G>A (n.*457G>A) | |
| 8 | g.43122496G>C | CA371122410 | POMK | c.672G>C (p.Leu224Phe) c.*468G>C (n.*468G>C) c.390G>C (p.Leu130Phe) c.*592G>C (n.*592G>C) c.630G>C (p.Leu210Phe) c.*457G>C (n.*457G>C) | |
| 8 | g.43122496G>T | CA371122411 | POMK | c.672G>T (p.Leu224Phe) c.*468G>T (n.*468G>T) c.390G>T (p.Leu130Phe) c.*592G>T (n.*592G>T) c.630G>T (p.Leu210Phe) c.*457G>T (n.*457G>T) | gnomAD v4 |
| 8 | g.43122497G>A | CA371122412 | POMK | c.673G>A (p.Ala225Thr) c.*469G>A (n.*469G>A) c.391G>A (p.Ala131Thr) c.*593G>A (n.*593G>A) c.631G>A (p.Ala211Thr) c.*458G>A (n.*458G>A) | COSMIC |
| 8 | g.43122497G>C | CA371122414 | POMK | c.673G>C (p.Ala225Pro) c.*469G>C (n.*469G>C) c.391G>C (p.Ala131Pro) c.*593G>C (n.*593G>C) c.631G>C (p.Ala211Pro) c.*458G>C (n.*458G>C) | |
| 8 | g.43122497G>T | CA371122413 | POMK | c.673G>T (p.Ala225Ser) c.*469G>T (n.*469G>T) c.391G>T (p.Ala131Ser) c.*593G>T (n.*593G>T) c.631G>T (p.Ala211Ser) c.*458G>T (n.*458G>T) | gnomAD v4 |
| 8 | g.43122498C>A | CA371122415 | POMK | c.674C>A (p.Ala225Glu) c.*470C>A (n.*470C>A) c.392C>A (p.Ala131Glu) c.*594C>A (n.*594C>A) c.632C>A (p.Ala211Glu) c.*459C>A (n.*459C>A) | |
| 8 | g.43122498C= | CA1779747529 | POMK | c.674C= (p.Ala225=) c.*470C= (n.*470C=) c.392C= (p.Ala131=) c.*594C= (n.*594C=) c.632C= (p.Ala211=) c.*459C= (n.*459C=) | |
| 8 | g.43122498C>G | CA371122416 | POMK | c.674C>G (p.Ala225Gly) c.*470C>G (n.*470C>G) c.392C>G (p.Ala131Gly) c.*594C>G (n.*594C>G) c.632C>G (p.Ala211Gly) c.*459C>G (n.*459C>G) | |
| 8 | g.43122498C>T | CA4736335 | POMK | c.674C>T (p.Ala225Val) c.*470C>T (n.*470C>T) c.392C>T (p.Ala131Val) c.*594C>T (n.*594C>T) c.632C>T (p.Ala211Val) c.*459C>T (n.*459C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122499A>C | CA460787297 | POMK | c.675A>C (p.Ala225=) c.*471A>C (n.*471A>C) c.393A>C (p.Ala131=) c.*595A>C (n.*595A>C) c.633A>C (p.Ala211=) c.*460A>C (n.*460A>C) | |
| 8 | g.43122499A>G | CA460787299 | POMK | c.675A>G (p.Ala225=) c.*471A>G (n.*471A>G) c.393A>G (p.Ala131=) c.*595A>G (n.*595A>G) c.633A>G (p.Ala211=) c.*460A>G (n.*460A>G) | |
| 8 | g.43122499A>T | CA460787301 | POMK | c.675A>T (p.Ala225=) c.*471A>T (n.*471A>T) c.393A>T (p.Ala131=) c.*595A>T (n.*595A>T) c.633A>T (p.Ala211=) c.*460A>T (n.*460A>T) | |
| 8 | g.43122500A= | CA1779747531 | POMK | c.676A= (p.Asn226=) c.*472A= (n.*472A=) c.394A= (p.Asn132=) c.*596A= (n.*596A=) c.634A= (p.Asn212=) c.*461A= (n.*461A=) | |
| 8 | g.43122500A>C | CA371122417 | POMK | c.676A>C (p.Asn226His) c.*472A>C (n.*472A>C) c.394A>C (p.Asn132His) c.*596A>C (n.*596A>C) c.634A>C (p.Asn212His) c.*461A>C (n.*461A>C) | |
| 8 | g.43122500A>G | CA371122418 | POMK | c.676A>G (p.Asn226Asp) c.*472A>G (n.*472A>G) c.394A>G (p.Asn132Asp) c.*596A>G (n.*596A>G) c.634A>G (p.Asn212Asp) c.*461A>G (n.*461A>G) | dbSNP |
| 8 | g.43122500A>T | CA371122419 | POMK | c.676A>T (p.Asn226Tyr) c.*472A>T (n.*472A>T) c.394A>T (p.Asn132Tyr) c.*596A>T (n.*596A>T) c.634A>T (p.Asn212Tyr) c.*461A>T (n.*461A>T) | |
| 8 | g.43122501A>C | CA371122420 | POMK | c.677A>C (p.Asn226Thr) c.*473A>C (n.*473A>C) c.395A>C (p.Asn132Thr) c.*597A>C (n.*597A>C) c.635A>C (p.Asn212Thr) c.*462A>C (n.*462A>C) | |
| 8 | g.43122501A>G | CA371122421 | POMK | c.677A>G (p.Asn226Ser) c.*473A>G (n.*473A>G) c.395A>G (p.Asn132Ser) c.*597A>G (n.*597A>G) c.635A>G (p.Asn212Ser) c.*462A>G (n.*462A>G) | |
| 8 | g.43122501A>T | CA371122422 | POMK | c.677A>T (p.Asn226Ile) c.*473A>T (n.*473A>T) c.395A>T (p.Asn132Ile) c.*597A>T (n.*597A>T) c.635A>T (p.Asn212Ile) c.*462A>T (n.*462A>T) | gnomAD v4 |
| 8 | g.43122502T>A | CA371122423 | POMK | c.678T>A (p.Asn226Lys) c.*474T>A (n.*474T>A) c.396T>A (p.Asn132Lys) c.*598T>A (n.*598T>A) c.636T>A (p.Asn212Lys) c.*463T>A (n.*463T>A) | |
| 8 | g.43122502T>C | CA460787308 | POMK | c.678T>C (p.Asn226=) c.*474T>C (n.*474T>C) c.396T>C (p.Asn132=) c.*598T>C (n.*598T>C) c.636T>C (p.Asn212=) c.*463T>C (n.*463T>C) | |
| 8 | g.43122502T>G | CA371122424 | POMK | c.678T>G (p.Asn226Lys) c.*474T>G (n.*474T>G) c.396T>G (p.Asn132Lys) c.*598T>G (n.*598T>G) c.636T>G (p.Asn212Lys) c.*463T>G (n.*463T>G) | |
| 8 | g.43122503G>A | CA371122425 | POMK | c.679G>A (p.Asp227Asn) c.*475G>A (n.*475G>A) c.397G>A (p.Asp133Asn) c.*599G>A (n.*599G>A) c.637G>A (p.Asp213Asn) c.*464G>A (n.*464G>A) | |
| 8 | g.43122503G>C | CA371122426 | POMK | c.679G>C (p.Asp227His) c.*475G>C (n.*475G>C) c.397G>C (p.Asp133His) c.*599G>C (n.*599G>C) c.637G>C (p.Asp213His) c.*464G>C (n.*464G>C) | |
| 8 | g.43122503G>T | CA371122427 | POMK | c.679G>T (p.Asp227Tyr) c.*475G>T (n.*475G>T) c.397G>T (p.Asp133Tyr) c.*599G>T (n.*599G>T) c.637G>T (p.Asp213Tyr) c.*464G>T (n.*464G>T) | |
| 8 | g.43122504A>C | CA371122430 | POMK | c.680A>C (p.Asp227Ala) c.*476A>C (n.*476A>C) c.398A>C (p.Asp133Ala) c.*600A>C (n.*600A>C) c.638A>C (p.Asp213Ala) c.*465A>C (n.*465A>C) | |
| 8 | g.43122504A>G | CA371122428 | POMK | c.680A>G (p.Asp227Gly) c.*476A>G (n.*476A>G) c.398A>G (p.Asp133Gly) c.*600A>G (n.*600A>G) c.638A>G (p.Asp213Gly) c.*465A>G (n.*465A>G) | |
| 8 | g.43122504A>T | CA371122429 | POMK | c.680A>T (p.Asp227Val) c.*476A>T (n.*476A>T) c.398A>T (p.Asp133Val) c.*600A>T (n.*600A>T) c.638A>T (p.Asp213Val) c.*465A>T (n.*465A>T) | |
| 8 | g.43122505C>A | CA371122431 | POMK | c.681C>A (p.Asp227Glu) c.*477C>A (n.*477C>A) c.399C>A (p.Asp133Glu) c.*601C>A (n.*601C>A) c.639C>A (p.Asp213Glu) c.*466C>A (n.*466C>A) | |
| 8 | g.43122505C= | CA1779747536 | POMK | c.681C= (p.Asp227=) c.*477C= (n.*477C=) c.399C= (p.Asp133=) c.*601C= (n.*601C=) c.639C= (p.Asp213=) c.*466C= (n.*466C=) | |
| 8 | g.43122505C>G | CA371122432 | POMK | c.681C>G (p.Asp227Glu) c.*477C>G (n.*477C>G) c.399C>G (p.Asp133Glu) c.*601C>G (n.*601C>G) c.639C>G (p.Asp213Glu) c.*466C>G (n.*466C>G) | dbSNP |
| 8 | g.43122505C>T | CA4736336 | POMK | c.681C>T (p.Asp227=) c.*477C>T (n.*477C>T) c.399C>T (p.Asp133=) c.*601C>T (n.*601C>T) c.639C>T (p.Asp213=) c.*466C>T (n.*466C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122506T>A | CA371122433 | POMK | c.682T>A (p.Leu228Met) c.*478T>A (n.*478T>A) c.400T>A (p.Leu134Met) c.*602T>A (n.*602T>A) c.640T>A (p.Leu214Met) c.*467T>A (n.*467T>A) | |
| 8 | g.43122506T>C | CA460787312 | POMK | c.682T>C (p.Leu228=) c.*478T>C (n.*478T>C) c.400T>C (p.Leu134=) c.*602T>C (n.*602T>C) c.640T>C (p.Leu214=) c.*467T>C (n.*467T>C) | gnomAD v4 |
| 8 | g.43122506T>G | CA371122434 | POMK | c.682T>G (p.Leu228Val) c.*478T>G (n.*478T>G) c.400T>G (p.Leu134Val) c.*602T>G (n.*602T>G) c.640T>G (p.Leu214Val) c.*467T>G (n.*467T>G) | gnomAD v4 |
| 8 | g.43122507T>A | CA371122435 | POMK | c.683T>A (p.Leu228Ter) c.*479T>A (n.*479T>A) c.401T>A (p.Leu134Ter) c.*603T>A (n.*603T>A) c.641T>A (p.Leu214Ter) c.*468T>A (n.*468T>A) | |
| 8 | g.43122507T>C | CA371122436 | POMK | c.683T>C (p.Leu228Ser) c.*479T>C (n.*479T>C) c.401T>C (p.Leu134Ser) c.*603T>C (n.*603T>C) c.641T>C (p.Leu214Ser) c.*468T>C (n.*468T>C) | |
| 8 | g.43122507T>G | CA371122437 | POMK | c.683T>G (p.Leu228Trp) c.*479T>G (n.*479T>G) c.401T>G (p.Leu134Trp) c.*603T>G (n.*603T>G) c.641T>G (p.Leu214Trp) c.*468T>G (n.*468T>G) | |
| 8 | g.43122508G>A | CA460787317 | POMK | c.684G>A (p.Leu228=) c.*480G>A (n.*480G>A) c.402G>A (p.Leu134=) c.*604G>A (n.*604G>A) c.642G>A (p.Leu214=) c.*469G>A (n.*469G>A) | |
| 8 | g.43122508G>C | CA371122438 | POMK | c.684G>C (p.Leu228Phe) c.*480G>C (n.*480G>C) c.402G>C (p.Leu134Phe) c.*604G>C (n.*604G>C) c.642G>C (p.Leu214Phe) c.*469G>C (n.*469G>C) | |
| 8 | g.43122508G>T | CA371122439 | POMK | c.684G>T (p.Leu228Phe) c.*480G>T (n.*480G>T) c.402G>T (p.Leu134Phe) c.*604G>T (n.*604G>T) c.642G>T (p.Leu214Phe) c.*469G>T (n.*469G>T) | |
| 8 | g.43122509G>A | CA371122441 | POMK | c.685G>A (p.Asp229Asn) c.*481G>A (n.*481G>A) c.403G>A (p.Asp135Asn) c.*605G>A (n.*605G>A) c.643G>A (p.Asp215Asn) c.*470G>A (n.*470G>A) | |
| 8 | g.43122509G>C | CA371122442 | POMK | c.685G>C (p.Asp229His) c.*481G>C (n.*481G>C) c.403G>C (p.Asp135His) c.*605G>C (n.*605G>C) c.643G>C (p.Asp215His) c.*470G>C (n.*470G>C) | |
| 8 | g.43122509G>T | CA371122440 | POMK | c.685G>T (p.Asp229Tyr) c.*481G>T (n.*481G>T) c.403G>T (p.Asp135Tyr) c.*605G>T (n.*605G>T) c.643G>T (p.Asp215Tyr) c.*470G>T (n.*470G>T) | gnomAD v4 |
| 8 | g.43122510A>C | CA371122443 | POMK | c.686A>C (p.Asp229Ala) c.*482A>C (n.*482A>C) c.404A>C (p.Asp135Ala) c.*606A>C (n.*606A>C) c.644A>C (p.Asp215Ala) c.*471A>C (n.*471A>C) | |
| 8 | g.43122510A>G | CA371122444 | POMK | c.686A>G (p.Asp229Gly) c.*482A>G (n.*482A>G) c.404A>G (p.Asp135Gly) c.*606A>G (n.*606A>G) c.644A>G (p.Asp215Gly) c.*471A>G (n.*471A>G) | |
| 8 | g.43122510A>T | CA371122445 | POMK | c.686A>T (p.Asp229Val) c.*482A>T (n.*482A>T) c.404A>T (p.Asp135Val) c.*606A>T (n.*606A>T) c.644A>T (p.Asp215Val) c.*471A>T (n.*471A>T) | |
| 8 | g.43122511C>A | CA371122446 | POMK | c.687C>A (p.Asp229Glu) c.*483C>A (n.*483C>A) c.405C>A (p.Asp135Glu) c.*607C>A (n.*607C>A) c.645C>A (p.Asp215Glu) c.*472C>A (n.*472C>A) | |
| 8 | g.43122511C= | CA1779747545 | POMK | c.687C= (p.Asp229=) c.*483C= (n.*483C=) c.405C= (p.Asp135=) c.*607C= (n.*607C=) c.645C= (p.Asp215=) c.*472C= (n.*472C=) | |
| 8 | g.43122511C>G | CA371122447 | POMK | c.687C>G (p.Asp229Glu) c.*483C>G (n.*483C>G) c.405C>G (p.Asp135Glu) c.*607C>G (n.*607C>G) c.645C>G (p.Asp215Glu) c.*472C>G (n.*472C>G) | |
| 8 | g.43122511C>T | CA4736337 | POMK | c.687C>T (p.Asp229=) c.*483C>T (n.*483C>T) c.405C>T (p.Asp135=) c.*607C>T (n.*607C>T) c.645C>T (p.Asp215=) c.*472C>T (n.*472C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122512G>A | CA371122449 | POMK | c.688G>A (p.Ala230Thr) c.*484G>A (n.*484G>A) c.406G>A (p.Ala136Thr) c.*608G>A (n.*608G>A) c.646G>A (p.Ala216Thr) c.*473G>A (n.*473G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122512G>C | CA371122448 | POMK | c.688G>C (p.Ala230Pro) c.*484G>C (n.*484G>C) c.406G>C (p.Ala136Pro) c.*608G>C (n.*608G>C) c.646G>C (p.Ala216Pro) c.*473G>C (n.*473G>C) | gnomAD v4 |
| 8 | g.43122512G= | CA1779747550 | POMK | c.688G= (p.Ala230=) c.*484G= (n.*484G=) c.406G= (p.Ala136=) c.*608G= (n.*608G=) c.646G= (p.Ala216=) c.*473G= (n.*473G=) | |
| 8 | g.43122512G>T | CA176080255 | POMK | c.688G>T (p.Ala230Ser) c.*484G>T (n.*484G>T) c.406G>T (p.Ala136Ser) c.*608G>T (n.*608G>T) c.646G>T (p.Ala216Ser) c.*473G>T (n.*473G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122513C>A | CA371122450 | POMK | c.689C>A (p.Ala230Asp) c.*485C>A (n.*485C>A) c.407C>A (p.Ala136Asp) c.*609C>A (n.*609C>A) c.647C>A (p.Ala216Asp) c.*474C>A (n.*474C>A) | |
| 8 | g.43122513C>G | CA371122451 | POMK | c.689C>G (p.Ala230Gly) c.*485C>G (n.*485C>G) c.407C>G (p.Ala136Gly) c.*609C>G (n.*609C>G) c.647C>G (p.Ala216Gly) c.*474C>G (n.*474C>G) | gnomAD v4 |
| 8 | g.43122513C>T | CA371122452 | POMK | c.689C>T (p.Ala230Val) c.*485C>T (n.*485C>T) c.407C>T (p.Ala136Val) c.*609C>T (n.*609C>T) c.647C>T (p.Ala216Val) c.*474C>T (n.*474C>T) | |
| 8 | g.43122514C>A | CA460787326 | POMK | c.690C>A (p.Ala230=) c.*486C>A (n.*486C>A) c.408C>A (p.Ala136=) c.*610C>A (n.*610C>A) c.648C>A (p.Ala216=) c.*475C>A (n.*475C>A) | |
| 8 | g.43122514C= | CA1779747557 | POMK | c.690C= (p.Ala230=) c.*486C= (n.*486C=) c.408C= (p.Ala136=) c.*610C= (n.*610C=) c.648C= (p.Ala216=) c.*475C= (n.*475C=) | |
| 8 | g.43122514C>G | CA460787329 | POMK | c.690C>G (p.Ala230=) c.*486C>G (n.*486C>G) c.408C>G (p.Ala136=) c.*610C>G (n.*610C>G) c.648C>G (p.Ala216=) c.*475C>G (n.*475C>G) | |
| 8 | g.43122514C>T | CA460787330 | POMK | c.690C>T (p.Ala230=) c.*486C>T (n.*486C>T) c.408C>T (p.Ala136=) c.*610C>T (n.*610C>T) c.648C>T (p.Ala216=) c.*475C>T (n.*475C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122515T>A | CA371122453 | POMK | c.691T>A (p.Leu231Ile) c.*487T>A (n.*487T>A) c.409T>A (p.Leu137Ile) c.*611T>A (n.*611T>A) c.649T>A (p.Leu217Ile) c.*476T>A (n.*476T>A) | |
| 8 | g.43122515T>C | CA460787331 | POMK | c.691T>C (p.Leu231=) c.*487T>C (n.*487T>C) c.409T>C (p.Leu137=) c.*611T>C (n.*611T>C) c.649T>C (p.Leu217=) c.*476T>C (n.*476T>C) | |
| 8 | g.43122515T>G | CA371122454 | POMK | c.691T>G (p.Leu231Val) c.*487T>G (n.*487T>G) c.409T>G (p.Leu137Val) c.*611T>G (n.*611T>G) c.649T>G (p.Leu217Val) c.*476T>G (n.*476T>G) | |
| 8 | g.43122516T>A | CA371122455 | POMK | c.692T>A (p.Leu231Ter) c.*488T>A (n.*488T>A) c.410T>A (p.Leu137Ter) c.*612T>A (n.*612T>A) c.650T>A (p.Leu217Ter) c.*477T>A (n.*477T>A) | gnomAD v4 |
| 8 | g.43122516T>C | CA371122457 | POMK | c.692T>C (p.Leu231Ser) c.*488T>C (n.*488T>C) c.410T>C (p.Leu137Ser) c.*612T>C (n.*612T>C) c.650T>C (p.Leu217Ser) c.*477T>C (n.*477T>C) | |
| 8 | g.43122516T>G | CA371122456 | POMK | c.692T>G (p.Leu231Ter) c.*488T>G (n.*488T>G) c.410T>G (p.Leu137Ter) c.*612T>G (n.*612T>G) c.650T>G (p.Leu217Ter) c.*477T>G (n.*477T>G) | |
| 8 | g.43122517A>C | CA371122458 | POMK | c.693A>C (p.Leu231Phe) c.*489A>C (n.*489A>C) c.411A>C (p.Leu137Phe) c.*613A>C (n.*613A>C) c.651A>C (p.Leu217Phe) c.*478A>C (n.*478A>C) | |
| 8 | g.43122517A>G | CA460787336 | POMK | c.693A>G (p.Leu231=) c.*489A>G (n.*489A>G) c.411A>G (p.Leu137=) c.*613A>G (n.*613A>G) c.651A>G (p.Leu217=) c.*478A>G (n.*478A>G) | |
| 8 | g.43122517A>T | CA371122459 | POMK | c.693A>T (p.Leu231Phe) c.*489A>T (n.*489A>T) c.411A>T (p.Leu137Phe) c.*613A>T (n.*613A>T) c.651A>T (p.Leu217Phe) c.*478A>T (n.*478A>T) | |
| 8 | g.43122518C>A | CA371122460 | POMK | c.694C>A (p.Pro232Thr) c.*490C>A (n.*490C>A) c.412C>A (p.Pro138Thr) c.*614C>A (n.*614C>A) c.652C>A (p.Pro218Thr) c.*479C>A (n.*479C>A) | |
| 8 | g.43122518C>G | CA371122461 | POMK | c.694C>G (p.Pro232Ala) c.*490C>G (n.*490C>G) c.412C>G (p.Pro138Ala) c.*614C>G (n.*614C>G) c.652C>G (p.Pro218Ala) c.*479C>G (n.*479C>G) | |
| 8 | g.43122518C>T | CA371122462 | POMK | c.694C>T (p.Pro232Ser) c.*490C>T (n.*490C>T) c.412C>T (p.Pro138Ser) c.*614C>T (n.*614C>T) c.652C>T (p.Pro218Ser) c.*479C>T (n.*479C>T) | gnomAD v4 |
| 8 | g.43122519C>A | CA371122463 | POMK | c.695C>A (p.Pro232His) c.*491C>A (n.*491C>A) c.413C>A (p.Pro138His) c.*615C>A (n.*615C>A) c.653C>A (p.Pro218His) c.*480C>A (n.*480C>A) | dbSNP |
| 8 | g.43122519C= | CA1779747560 | POMK | c.695C= (p.Pro232=) c.*491C= (n.*491C=) c.413C= (p.Pro138=) c.*615C= (n.*615C=) c.653C= (p.Pro218=) c.*480C= (n.*480C=) | |
| 8 | g.43122519C>G | CA371122464 | POMK | c.695C>G (p.Pro232Arg) c.*491C>G (n.*491C>G) c.413C>G (p.Pro138Arg) c.*615C>G (n.*615C>G) c.653C>G (p.Pro218Arg) c.*480C>G (n.*480C>G) | |
| 8 | g.43122519C>T | CA371122465 | POMK | c.695C>T (p.Pro232Leu) c.*491C>T (n.*491C>T) c.413C>T (p.Pro138Leu) c.*615C>T (n.*615C>T) c.653C>T (p.Pro218Leu) c.*480C>T (n.*480C>T) | gnomAD v4 |
| 8 | g.43122520C>A | CA460787339 | POMK | c.696C>A (p.Pro232=) c.*492C>A (n.*492C>A) c.414C>A (p.Pro138=) c.*616C>A (n.*616C>A) c.654C>A (p.Pro218=) c.*481C>A (n.*481C>A) | |
| 8 | g.43122520C= | CA1779747564 | POMK | c.696C= (p.Pro232=) c.*492C= (n.*492C=) c.414C= (p.Pro138=) c.*616C= (n.*616C=) c.654C= (p.Pro218=) c.*481C= (n.*481C=) | |
| 8 | g.43122520C>G | CA460787340 | POMK | c.696C>G (p.Pro232=) c.*492C>G (n.*492C>G) c.414C>G (p.Pro138=) c.*616C>G (n.*616C>G) c.654C>G (p.Pro218=) c.*481C>G (n.*481C>G) | |
| 8 | g.43122520C>T | CA4736338 | POMK | c.696C>T (p.Pro232=) c.*492C>T (n.*492C>T) c.414C>T (p.Pro138=) c.*616C>T (n.*616C>T) c.654C>T (p.Pro218=) c.*481C>T (n.*481C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122521C>A | CA371122466 | POMK | c.697C>A (p.Leu233Met) c.*493C>A (n.*493C>A) c.415C>A (p.Leu139Met) c.*617C>A (n.*617C>A) c.655C>A (p.Leu219Met) c.*482C>A (n.*482C>A) | |
| 8 | g.43122521C= | CA1779747568 | POMK | c.697C= (p.Leu233=) c.*493C= (n.*493C=) c.415C= (p.Leu139=) c.*617C= (n.*617C=) c.655C= (p.Leu219=) c.*482C= (n.*482C=) | |
| 8 | g.43122521C>G | CA176080276 | POMK | c.697C>G (p.Leu233Val) c.*493C>G (n.*493C>G) c.415C>G (p.Leu139Val) c.*617C>G (n.*617C>G) c.655C>G (p.Leu219Val) c.*482C>G (n.*482C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122521C>T | CA460787342 | POMK | c.697C>T (p.Leu233=) c.*493C>T (n.*493C>T) c.415C>T (p.Leu139=) c.*617C>T (n.*617C>T) c.655C>T (p.Leu219=) c.*482C>T (n.*482C>T) | |
| 8 | g.43122521_43122522delinsCT | CA1779747569 | POMK | c.697_698delinsCT (p.Leu233=) c.*493_*494delinsCT (n.*493_*494delinsCT) c.415_416delinsCT (p.Leu139=) c.*617_*618delinsCT (n.*617_*618delinsCT) c.655_656delinsCT (p.Leu219=) c.*482_*483delinsCT (n.*482_*483delinsCT) | |
| 8 | g.43122522del | CA1113252651 | POMK | c.698del (p.Leu233ArgfsTer2) c.*494del (n.*494del) c.416del (p.Leu139ArgfsTer2) c.*618del (n.*618del) c.656del (p.Leu219ArgfsTer2) c.*483del (n.*483del) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122522T>A | CA371122467 | POMK | c.698T>A (p.Leu233Gln) c.*494T>A (n.*494T>A) c.416T>A (p.Leu139Gln) c.*618T>A (n.*618T>A) c.656T>A (p.Leu219Gln) c.*483T>A (n.*483T>A) | |
| 8 | g.43122522T>C | CA371122469 | POMK | c.698T>C (p.Leu233Pro) c.*494T>C (n.*494T>C) c.416T>C (p.Leu139Pro) c.*618T>C (n.*618T>C) c.656T>C (p.Leu219Pro) c.*483T>C (n.*483T>C) | |
| 8 | g.43122522T>G | CA371122468 | POMK | c.698T>G (p.Leu233Arg) c.*494T>G (n.*494T>G) c.416T>G (p.Leu139Arg) c.*618T>G (n.*618T>G) c.656T>G (p.Leu219Arg) c.*483T>G (n.*483T>G) | |
| 8 | g.43122523G>A | CA460787344 | POMK | c.699G>A (p.Leu233=) c.*495G>A (n.*495G>A) c.417G>A (p.Leu139=) c.*619G>A (n.*619G>A) c.657G>A (p.Leu219=) c.*484G>A (n.*484G>A) | dbSNP |
| 8 | g.43122523G>C | CA460787346 | POMK | c.699G>C (p.Leu233=) c.*495G>C (n.*495G>C) c.417G>C (p.Leu139=) c.*619G>C (n.*619G>C) c.657G>C (p.Leu219=) c.*484G>C (n.*484G>C) | |
| 8 | g.43122523G= | CA1779747573 | POMK | c.699G= (p.Leu233=) c.*495G= (n.*495G=) c.417G= (p.Leu139=) c.*619G= (n.*619G=) c.657G= (p.Leu219=) c.*484G= (n.*484G=) | |
| 8 | g.43122523G>T | CA460787345 | POMK | c.699G>T (p.Leu233=) c.*495G>T (n.*495G>T) c.417G>T (p.Leu139=) c.*619G>T (n.*619G>T) c.657G>T (p.Leu219=) c.*484G>T (n.*484G>T) | COSMIC COSMIC |
| 8 | g.43122524G>A | CA371122470 | POMK | c.700G>A (p.Val234Met) c.*496G>A (n.*496G>A) c.418G>A (p.Val140Met) c.*620G>A (n.*620G>A) c.658G>A (p.Val220Met) c.*485G>A (n.*485G>A) | |
| 8 | g.43122524G>C | CA371122472 | POMK | c.700G>C (p.Val234Leu) c.*496G>C (n.*496G>C) c.418G>C (p.Val140Leu) c.*620G>C (n.*620G>C) c.658G>C (p.Val220Leu) c.*485G>C (n.*485G>C) | |
| 8 | g.43122524G>T | CA371122471 | POMK | c.700G>T (p.Val234Leu) c.*496G>T (n.*496G>T) c.418G>T (p.Val140Leu) c.*620G>T (n.*620G>T) c.658G>T (p.Val220Leu) c.*485G>T (n.*485G>T) | |
| 8 | g.43122525T>A | CA371122473 | POMK | c.701T>A (p.Val234Glu) c.*497T>A (n.*497T>A) c.419T>A (p.Val140Glu) c.*621T>A (n.*621T>A) c.659T>A (p.Val220Glu) c.*486T>A (n.*486T>A) | |
| 8 | g.43122525T>C | CA4736339 | POMK | c.701T>C (p.Val234Ala) c.*497T>C (n.*497T>C) c.419T>C (p.Val140Ala) c.*621T>C (n.*621T>C) c.659T>C (p.Val220Ala) c.*486T>C (n.*486T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122525T>G | CA371122474 | POMK | c.701T>G (p.Val234Gly) c.*497T>G (n.*497T>G) c.419T>G (p.Val140Gly) c.*621T>G (n.*621T>G) c.659T>G (p.Val220Gly) c.*486T>G (n.*486T>G) | |
| 8 | g.43122525T= | CA1779747582 | POMK | c.701T= (p.Val234=) c.*497T= (n.*497T=) c.419T= (p.Val140=) c.*621T= (n.*621T=) c.659T= (p.Val220=) c.*486T= (n.*486T=) | |
| 8 | g.43122526G>A | CA460787350 | POMK | c.702G>A (p.Val234=) c.*498G>A (n.*498G>A) c.420G>A (p.Val140=) c.*622G>A (n.*622G>A) c.660G>A (p.Val220=) c.*487G>A (n.*487G>A) | |
| 8 | g.43122526G>C | CA460787353 | POMK | c.702G>C (p.Val234=) c.*498G>C (n.*498G>C) c.420G>C (p.Val140=) c.*622G>C (n.*622G>C) c.660G>C (p.Val220=) c.*487G>C (n.*487G>C) | |
| 8 | g.43122526G>T | CA460787351 | POMK | c.702G>T (p.Val234=) c.*498G>T (n.*498G>T) c.420G>T (p.Val140=) c.*622G>T (n.*622G>T) c.660G>T (p.Val220=) c.*487G>T (n.*487G>T) | |
| 8 | g.43122527A>C | CA371122475 | POMK | c.703A>C (p.Asn235His) c.*499A>C (n.*499A>C) c.421A>C (p.Asn141His) c.*623A>C (n.*623A>C) c.661A>C (p.Asn221His) c.*488A>C (n.*488A>C) | |
| 8 | g.43122527A>G | CA371122477 | POMK | c.703A>G (p.Asn235Asp) c.*499A>G (n.*499A>G) c.421A>G (p.Asn141Asp) c.*623A>G (n.*623A>G) c.661A>G (p.Asn221Asp) c.*488A>G (n.*488A>G) | gnomAD v4 |
| 8 | g.43122527A>T | CA371122476 | POMK | c.703A>T (p.Asn235Tyr) c.*499A>T (n.*499A>T) c.421A>T (p.Asn141Tyr) c.*623A>T (n.*623A>T) c.661A>T (p.Asn221Tyr) c.*488A>T (n.*488A>T) | |
| 8 | g.43122528A= | CA1779747587 | POMK | c.704A= (p.Asn235=) c.*500A= (n.*500A=) c.422A= (p.Asn141=) c.*624A= (n.*624A=) c.662A= (p.Asn221=) c.*489A= (n.*489A=) | |
| 8 | g.43122528A>C | CA371122478 | POMK | c.704A>C (p.Asn235Thr) c.*500A>C (n.*500A>C) c.422A>C (p.Asn141Thr) c.*624A>C (n.*624A>C) c.662A>C (p.Asn221Thr) c.*489A>C (n.*489A>C) | |
| 8 | g.43122528A>G | CA4736340 | POMK | c.704A>G (p.Asn235Ser) c.*500A>G (n.*500A>G) c.422A>G (p.Asn141Ser) c.*624A>G (n.*624A>G) c.662A>G (p.Asn221Ser) c.*489A>G (n.*489A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122528A>T | CA371122479 | POMK | c.704A>T (p.Asn235Ile) c.*500A>T (n.*500A>T) c.422A>T (p.Asn141Ile) c.*624A>T (n.*624A>T) c.662A>T (p.Asn221Ile) c.*489A>T (n.*489A>T) | gnomAD v4 |
| 8 | g.43122529C>A | CA371122480 | POMK | c.705C>A (p.Asn235Lys) c.*501C>A (n.*501C>A) c.423C>A (p.Asn141Lys) c.*625C>A (n.*625C>A) c.663C>A (p.Asn221Lys) c.*490C>A (n.*490C>A) | |
| 8 | g.43122529C= | CA1779747592 | POMK | c.705C= (p.Asn235=) c.*501C= (n.*501C=) c.423C= (p.Asn141=) c.*625C= (n.*625C=) c.663C= (p.Asn221=) c.*490C= (n.*490C=) | |
| 8 | g.43122529C>G | CA4736341 | POMK | c.705C>G (p.Asn235Lys) c.*501C>G (n.*501C>G) c.423C>G (p.Asn141Lys) c.*625C>G (n.*625C>G) c.663C>G (p.Asn221Lys) c.*490C>G (n.*490C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122529C>T | CA460787357 | POMK | c.705C>T (p.Asn235=) c.*501C>T (n.*501C>T) c.423C>T (p.Asn141=) c.*625C>T (n.*625C>T) c.663C>T (p.Asn221=) c.*490C>T (n.*490C>T) | |
| 8 | g.43122530C>A | CA371122481 | POMK | c.706C>A (p.His236Asn) c.*502C>A (n.*502C>A) c.424C>A (p.His142Asn) c.*626C>A (n.*626C>A) c.664C>A (p.His222Asn) c.*491C>A (n.*491C>A) | |
| 8 | g.43122530C>G | CA371122482 | POMK | c.706C>G (p.His236Asp) c.*502C>G (n.*502C>G) c.424C>G (p.His142Asp) c.*626C>G (n.*626C>G) c.664C>G (p.His222Asp) c.*491C>G (n.*491C>G) | |
| 8 | g.43122530C>T | CA371122483 | POMK | c.706C>T (p.His236Tyr) c.*502C>T (n.*502C>T) c.424C>T (p.His142Tyr) c.*626C>T (n.*626C>T) c.664C>T (p.His222Tyr) c.*491C>T (n.*491C>T) | gnomAD v4 |
| 8 | g.43122531A>C | CA371122484 | POMK | c.707A>C (p.His236Pro) c.*503A>C (n.*503A>C) c.425A>C (p.His142Pro) c.*627A>C (n.*627A>C) c.665A>C (p.His222Pro) c.*492A>C (n.*492A>C) | |
| 8 | g.43122531A>G | CA371122485 | POMK | c.707A>G (p.His236Arg) c.*503A>G (n.*503A>G) c.425A>G (p.His142Arg) c.*627A>G (n.*627A>G) c.665A>G (p.His222Arg) c.*492A>G (n.*492A>G) | |
| 8 | g.43122531A>T | CA371122486 | POMK | c.707A>T (p.His236Leu) c.*503A>T (n.*503A>T) c.425A>T (p.His142Leu) c.*627A>T (n.*627A>T) c.665A>T (p.His222Leu) c.*492A>T (n.*492A>T) | gnomAD v4 |
| 8 | g.43122532C>A | CA371122487 | POMK | c.708C>A (p.His236Gln) c.*504C>A (n.*504C>A) c.426C>A (p.His142Gln) c.*628C>A (n.*628C>A) c.666C>A (p.His222Gln) c.*493C>A (n.*493C>A) | |
| 8 | g.43122532C>G | CA371122488 | POMK | c.708C>G (p.His236Gln) c.*504C>G (n.*504C>G) c.426C>G (p.His142Gln) c.*628C>G (n.*628C>G) c.666C>G (p.His222Gln) c.*493C>G (n.*493C>G) | |
| 8 | g.43122532C>T | CA460787360 | POMK | c.708C>T (p.His236=) c.*504C>T (n.*504C>T) c.426C>T (p.His142=) c.*628C>T (n.*628C>T) c.666C>T (p.His222=) c.*493C>T (n.*493C>T) | |
| 8 | g.43122533A>C | CA371122489 | POMK | c.709A>C (p.Ser237Arg) c.*505A>C (n.*505A>C) c.427A>C (p.Ser143Arg) c.*629A>C (n.*629A>C) c.667A>C (p.Ser223Arg) c.*494A>C (n.*494A>C) | |
| 8 | g.43122533A>G | CA371122490 | POMK | c.709A>G (p.Ser237Gly) c.*505A>G (n.*505A>G) c.427A>G (p.Ser143Gly) c.*629A>G (n.*629A>G) c.667A>G (p.Ser223Gly) c.*494A>G (n.*494A>G) | |
| 8 | g.43122533A>T | CA371122491 | POMK | c.709A>T (p.Ser237Cys) c.*505A>T (n.*505A>T) c.427A>T (p.Ser143Cys) c.*629A>T (n.*629A>T) c.667A>T (p.Ser223Cys) c.*494A>T (n.*494A>T) | |
| 8 | g.43122534G>A | CA371122494 | POMK | c.710G>A (p.Ser237Asn) c.*506G>A (n.*506G>A) c.428G>A (p.Ser143Asn) c.*630G>A (n.*630G>A) c.668G>A (p.Ser223Asn) c.*495G>A (n.*495G>A) | |
| 8 | g.43122534G>C | CA371122493 | POMK | c.710G>C (p.Ser237Thr) c.*506G>C (n.*506G>C) c.428G>C (p.Ser143Thr) c.*630G>C (n.*630G>C) c.668G>C (p.Ser223Thr) c.*495G>C (n.*495G>C) | gnomAD v4 |
| 8 | g.43122534G>T | CA371122492 | POMK | c.710G>T (p.Ser237Ile) c.*506G>T (n.*506G>T) c.428G>T (p.Ser143Ile) c.*630G>T (n.*630G>T) c.668G>T (p.Ser223Ile) c.*495G>T (n.*495G>T) | |
| 8 | g.43122535C>A | CA371122495 | POMK | c.711C>A (p.Ser237Arg) c.*507C>A (n.*507C>A) c.429C>A (p.Ser143Arg) c.*631C>A (n.*631C>A) c.669C>A (p.Ser223Arg) c.*496C>A (n.*496C>A) | |
| 8 | g.43122535C= | CA1779747596 | POMK | c.711C= (p.Ser237=) c.*507C= (n.*507C=) c.429C= (p.Ser143=) c.*631C= (n.*631C=) c.669C= (p.Ser223=) c.*496C= (n.*496C=) | |
| 8 | g.43122535C>G | CA371122496 | POMK | c.711C>G (p.Ser237Arg) c.*507C>G (n.*507C>G) c.429C>G (p.Ser143Arg) c.*631C>G (n.*631C>G) c.669C>G (p.Ser223Arg) c.*496C>G (n.*496C>G) | |
| 8 | g.43122535C>T | CA460787364 | POMK | c.711C>T (p.Ser237=) c.*507C>T (n.*507C>T) c.429C>T (p.Ser143=) c.*631C>T (n.*631C>T) c.669C>T (p.Ser223=) c.*496C>T (n.*496C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122536T>A | CA371122497 | POMK | c.712T>A (p.Ser238Thr) c.*508T>A (n.*508T>A) c.430T>A (p.Ser144Thr) c.*632T>A (n.*632T>A) c.670T>A (p.Ser224Thr) c.*497T>A (n.*497T>A) | |
| 8 | g.43122536T>C | CA371122498 | POMK | c.712T>C (p.Ser238Pro) c.*508T>C (n.*508T>C) c.430T>C (p.Ser144Pro) c.*632T>C (n.*632T>C) c.670T>C (p.Ser224Pro) c.*497T>C (n.*497T>C) | |
| 8 | g.43122536T>G | CA371122499 | POMK | c.712T>G (p.Ser238Ala) c.*508T>G (n.*508T>G) c.430T>G (p.Ser144Ala) c.*632T>G (n.*632T>G) c.670T>G (p.Ser224Ala) c.*497T>G (n.*497T>G) | |
| 8 | g.43122537C>A | CA371122500 | POMK | c.713C>A (p.Ser238Tyr) c.*509C>A (n.*509C>A) c.431C>A (p.Ser144Tyr) c.*633C>A (n.*633C>A) c.671C>A (p.Ser224Tyr) c.*498C>A (n.*498C>A) | gnomAD v4 |
| 8 | g.43122537C>G | CA371122501 | POMK | c.713C>G (p.Ser238Cys) c.*509C>G (n.*509C>G) c.431C>G (p.Ser144Cys) c.*633C>G (n.*633C>G) c.671C>G (p.Ser224Cys) c.*498C>G (n.*498C>G) | |
| 8 | g.43122537C>T | CA371122502 | POMK | c.713C>T (p.Ser238Phe) c.*509C>T (n.*509C>T) c.431C>T (p.Ser144Phe) c.*633C>T (n.*633C>T) c.671C>T (p.Ser224Phe) c.*498C>T (n.*498C>T) | COSMIC COSMIC |
| 8 | g.43122538C>A | CA460787370 | POMK | c.714C>A (p.Ser238=) c.*510C>A (n.*510C>A) c.432C>A (p.Ser144=) c.*634C>A (n.*634C>A) c.672C>A (p.Ser224=) c.*499C>A (n.*499C>A) | COSMIC |
| 8 | g.43122538C= | CA1779747601 | POMK | c.714C= (p.Ser238=) c.*510C= (n.*510C=) c.432C= (p.Ser144=) c.*634C= (n.*634C=) c.672C= (p.Ser224=) c.*499C= (n.*499C=) | |
| 8 | g.43122538C>G | CA460787371 | POMK | c.714C>G (p.Ser238=) c.*510C>G (n.*510C>G) c.432C>G (p.Ser144=) c.*634C>G (n.*634C>G) c.672C>G (p.Ser224=) c.*499C>G (n.*499C>G) | |
| 8 | g.43122538C>T | CA4736342 | POMK | c.714C>T (p.Ser238=) c.*510C>T (n.*510C>T) c.432C>T (p.Ser144=) c.*634C>T (n.*634C>T) c.672C>T (p.Ser224=) c.*499C>T (n.*499C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122538_43122539delinsCG | CA1779747604 | POMK | c.714_715delinsCG (p.Ser238=) c.*510_*511delinsCG (n.*510_*511delinsCG) c.432_433delinsCG (p.Ser144=) c.*634_*635delinsCG (n.*634_*635delinsCG) c.672_673delinsCG (p.Ser224=) c.*499_*500delinsCG (n.*499_*500delinsCG) | |
| 8 | g.43122539G>A | CA4736343 | POMK | c.715G>A (p.Gly239Arg) c.*511G>A (n.*511G>A) c.433G>A (p.Gly145Arg) c.*635G>A (n.*635G>A) c.673G>A (p.Gly225Arg) c.*500G>A (n.*500G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122539G>C | CA371122503 | POMK | c.715G>C (p.Gly239Arg) c.*511G>C (n.*511G>C) c.433G>C (p.Gly145Arg) c.*635G>C (n.*635G>C) c.673G>C (p.Gly225Arg) c.*500G>C (n.*500G>C) | gnomAD v4 |
| 8 | g.43122539G= | CA1779747610 | POMK | c.715G= (p.Gly239=) c.*511G= (n.*511G=) c.433G= (p.Gly145=) c.*635G= (n.*635G=) c.673G= (p.Gly225=) c.*500G= (n.*500G=) | |
| 8 | g.43122539G>T | CA371122504 | POMK | c.715G>T (p.Gly239Trp) c.*511G>T (n.*511G>T) c.433G>T (p.Gly145Trp) c.*635G>T (n.*635G>T) c.673G>T (p.Gly225Trp) c.*500G>T (n.*500G>T) | |
| 8 | g.43122541del | CA1779747609 | POMK | c.717del (p.Met240CysfsTer3) c.*513del (n.*513del) c.435del (p.Met146CysfsTer3) c.*637del (n.*637del) c.675del (p.Met226CysfsTer3) c.*502del (n.*502del) | dbSNP |
| 8 | g.43122540G>A | CA371122507 | POMK | c.716G>A (p.Gly239Glu) c.*512G>A (n.*512G>A) c.434G>A (p.Gly145Glu) c.*636G>A (n.*636G>A) c.674G>A (p.Gly225Glu) c.*501G>A (n.*501G>A) | |
| 8 | g.43122540G>C | CA371122506 | POMK | c.716G>C (p.Gly239Ala) c.*512G>C (n.*512G>C) c.434G>C (p.Gly145Ala) c.*636G>C (n.*636G>C) c.674G>C (p.Gly225Ala) c.*501G>C (n.*501G>C) | |
| 8 | g.43122540G>T | CA371122505 | POMK | c.716G>T (p.Gly239Val) c.*512G>T (n.*512G>T) c.434G>T (p.Gly145Val) c.*636G>T (n.*636G>T) c.674G>T (p.Gly225Val) c.*501G>T (n.*501G>T) | |
| 8 | g.43122541G>A | CA460787373 | POMK | c.717G>A (p.Gly239=) c.*513G>A (n.*513G>A) c.435G>A (p.Gly145=) c.*637G>A (n.*637G>A) c.675G>A (p.Gly225=) c.*502G>A (n.*502G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122541G>C | CA460787374 | POMK | c.717G>C (p.Gly239=) c.*513G>C (n.*513G>C) c.435G>C (p.Gly145=) c.*637G>C (n.*637G>C) c.675G>C (p.Gly225=) c.*502G>C (n.*502G>C) | |
| 8 | g.43122541G= | CA1779747618 | POMK | c.717G= (p.Gly239=) c.*513G= (n.*513G=) c.435G= (p.Gly145=) c.*637G= (n.*637G=) c.675G= (p.Gly225=) c.*502G= (n.*502G=) | |
| 8 | g.43122541G>T | CA460787375 | POMK | c.717G>T (p.Gly239=) c.*513G>T (n.*513G>T) c.435G>T (p.Gly145=) c.*637G>T (n.*637G>T) c.675G>T (p.Gly225=) c.*502G>T (n.*502G>T) | |
| 8 | g.43122542A= | CA1779747620 | POMK | c.718A= (p.Met240=) c.*514A= (n.*514A=) c.436A= (p.Met146=) c.*638A= (n.*638A=) c.676A= (p.Met226=) c.*503A= (n.*503A=) | |
| 8 | g.43122542A>C | CA371122508 | POMK | c.718A>C (p.Met240Leu) c.*514A>C (n.*514A>C) c.436A>C (p.Met146Leu) c.*638A>C (n.*638A>C) c.676A>C (p.Met226Leu) c.*503A>C (n.*503A>C) | |
| 8 | g.43122542A>G | CA371122509 | POMK | c.718A>G (p.Met240Val) c.*514A>G (n.*514A>G) c.436A>G (p.Met146Val) c.*638A>G (n.*638A>G) c.676A>G (p.Met226Val) c.*503A>G (n.*503A>G) | |
| 8 | g.43122542A>T | CA371122510 | POMK | c.718A>T (p.Met240Leu) c.*514A>T (n.*514A>T) c.436A>T (p.Met146Leu) c.*638A>T (n.*638A>T) c.676A>T (p.Met226Leu) c.*503A>T (n.*503A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122543T>A | CA371122511 | POMK | c.719T>A (p.Met240Lys) c.*515T>A (n.*515T>A) c.437T>A (p.Met146Lys) c.*639T>A (n.*639T>A) c.677T>A (p.Met226Lys) c.*504T>A (n.*504T>A) | |
| 8 | g.43122543T>C | CA371122512 | POMK | c.719T>C (p.Met240Thr) c.*515T>C (n.*515T>C) c.437T>C (p.Met146Thr) c.*639T>C (n.*639T>C) c.677T>C (p.Met226Thr) c.*504T>C (n.*504T>C) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122543T>G | CA371122513 | POMK | c.719T>G (p.Met240Arg) c.*515T>G (n.*515T>G) c.437T>G (p.Met146Arg) c.*639T>G (n.*639T>G) c.677T>G (p.Met226Arg) c.*504T>G (n.*504T>G) | gnomAD v4 |
| 8 | g.43122543T= | CA1779747623 | POMK | c.719T= (p.Met240=) c.*515T= (n.*515T=) c.437T= (p.Met146=) c.*639T= (n.*639T=) c.677T= (p.Met226=) c.*504T= (n.*504T=) | |
| 8 | g.43122544G>A | CA371122514 | POMK | c.720G>A (p.Met240Ile) c.*516G>A (n.*516G>A) c.438G>A (p.Met146Ile) c.*640G>A (n.*640G>A) c.678G>A (p.Met226Ile) c.*505G>A (n.*505G>A) | |
| 8 | g.43122544G>C | CA371122515 | POMK | c.720G>C (p.Met240Ile) c.*516G>C (n.*516G>C) c.438G>C (p.Met146Ile) c.*640G>C (n.*640G>C) c.678G>C (p.Met226Ile) c.*505G>C (n.*505G>C) | |
| 8 | g.43122544G>T | CA371122516 | POMK | c.720G>T (p.Met240Ile) c.*516G>T (n.*516G>T) c.438G>T (p.Met146Ile) c.*640G>T (n.*640G>T) c.678G>T (p.Met226Ile) c.*505G>T (n.*505G>T) | |
| 8 | g.43122545C>A | CA371122517 | POMK | c.721C>A (p.Leu241Met) c.*517C>A (n.*517C>A) c.439C>A (p.Leu147Met) c.*641C>A (n.*641C>A) c.679C>A (p.Leu227Met) c.*506C>A (n.*506C>A) | |
| 8 | g.43122545C= | CA1779747626 | POMK | c.721C= (p.Leu241=) c.*517C= (n.*517C=) c.439C= (p.Leu147=) c.*641C= (n.*641C=) c.679C= (p.Leu227=) c.*506C= (n.*506C=) | |
| 8 | g.43122545C>G | CA4736344 | POMK | c.721C>G (p.Leu241Val) c.*517C>G (n.*517C>G) c.439C>G (p.Leu147Val) c.*641C>G (n.*641C>G) c.679C>G (p.Leu227Val) c.*506C>G (n.*506C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122545C>T | CA460787386 | POMK | c.721C>T (p.Leu241=) c.*517C>T (n.*517C>T) c.439C>T (p.Leu147=) c.*641C>T (n.*641C>T) c.679C>T (p.Leu227=) c.*506C>T (n.*506C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122546T>A | CA371122520 | POMK | c.722T>A (p.Leu241Gln) c.*518T>A (n.*518T>A) c.440T>A (p.Leu147Gln) c.*642T>A (n.*642T>A) c.680T>A (p.Leu227Gln) c.*507T>A (n.*507T>A) | |
| 8 | g.43122546T>C | CA371122519 | POMK | c.722T>C (p.Leu241Pro) c.*518T>C (n.*518T>C) c.440T>C (p.Leu147Pro) c.*642T>C (n.*642T>C) c.680T>C (p.Leu227Pro) c.*507T>C (n.*507T>C) | gnomAD v4 |
| 8 | g.43122546T>G | CA371122518 | POMK | c.722T>G (p.Leu241Arg) c.*518T>G (n.*518T>G) c.440T>G (p.Leu147Arg) c.*642T>G (n.*642T>G) c.680T>G (p.Leu227Arg) c.*507T>G (n.*507T>G) | |
| 8 | g.43122547G>A | CA176080329 | POMK | c.723G>A (p.Leu241=) c.*519G>A (n.*519G>A) c.441G>A (p.Leu147=) c.*643G>A (n.*643G>A) c.681G>A (p.Leu227=) c.*508G>A (n.*508G>A) | dbSNP |
| 8 | g.43122547G>C | CA460787390 | POMK | c.723G>C (p.Leu241=) c.*519G>C (n.*519G>C) c.441G>C (p.Leu147=) c.*643G>C (n.*643G>C) c.681G>C (p.Leu227=) c.*508G>C (n.*508G>C) | |
| 8 | g.43122547G= | CA1779747628 | POMK | c.723G= (p.Leu241=) c.*519G= (n.*519G=) c.441G= (p.Leu147=) c.*643G= (n.*643G=) c.681G= (p.Leu227=) c.*508G= (n.*508G=) | |
| 8 | g.43122547G>T | CA460787388 | POMK | c.723G>T (p.Leu241=) c.*519G>T (n.*519G>T) c.441G>T (p.Leu147=) c.*643G>T (n.*643G>T) c.681G>T (p.Leu227=) c.*508G>T (n.*508G>T) | |
| 8 | g.43122548dup | CA2740095018 | POMK | c.724dup (p.Val242GlyfsTer30) c.*520dup (n.*520dup) c.442dup (p.Val148GlyfsTer30) c.*644dup (n.*644dup) c.682dup (p.Val228GlyfsTer30) c.*509dup (n.*509dup) | ClinVar |
| 8 | g.43122548G>A | CA371122521 | POMK | c.724G>A (p.Val242Met) c.*520G>A (n.*520G>A) c.442G>A (p.Val148Met) c.*644G>A (n.*644G>A) c.682G>A (p.Val228Met) c.*509G>A (n.*509G>A) | |
| 8 | g.43122548G>C | CA371122522 | POMK | c.724G>C (p.Val242Leu) c.*520G>C (n.*520G>C) c.442G>C (p.Val148Leu) c.*644G>C (n.*644G>C) c.682G>C (p.Val228Leu) c.*509G>C (n.*509G>C) | |
| 8 | g.43122548G>T | CA371122523 | POMK | c.724G>T (p.Val242Leu) c.*520G>T (n.*520G>T) c.442G>T (p.Val148Leu) c.*644G>T (n.*644G>T) c.682G>T (p.Val228Leu) c.*509G>T (n.*509G>T) | |
| 8 | g.43122549T>A | CA371122524 | POMK | c.725T>A (p.Val242Glu) c.*521T>A (n.*521T>A) c.443T>A (p.Val148Glu) c.*645T>A (n.*645T>A) c.683T>A (p.Val228Glu) c.*510T>A (n.*510T>A) | |
| 8 | g.43122549T>C | CA371122525 | POMK | c.725T>C (p.Val242Ala) c.*521T>C (n.*521T>C) c.443T>C (p.Val148Ala) c.*645T>C (n.*645T>C) c.683T>C (p.Val228Ala) c.*510T>C (n.*510T>C) | |
| 8 | g.43122549T>G | CA371122526 | POMK | c.725T>G (p.Val242Gly) c.*521T>G (n.*521T>G) c.443T>G (p.Val148Gly) c.*645T>G (n.*645T>G) c.683T>G (p.Val228Gly) c.*510T>G (n.*510T>G) | |
| 8 | g.43122550G>A | CA4736345 | POMK | c.726G>A (p.Val242=) c.*522G>A (n.*522G>A) c.444G>A (p.Val148=) c.*646G>A (n.*646G>A) c.684G>A (p.Val228=) c.*511G>A (n.*511G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122550G>C | CA460787398 | POMK | c.726G>C (p.Val242=) c.*522G>C (n.*522G>C) c.444G>C (p.Val148=) c.*646G>C (n.*646G>C) c.684G>C (p.Val228=) c.*511G>C (n.*511G>C) | |
| 8 | g.43122550G= | CA1779747632 | POMK | c.726G= (p.Val242=) c.*522G= (n.*522G=) c.444G= (p.Val148=) c.*646G= (n.*646G=) c.684G= (p.Val228=) c.*511G= (n.*511G=) | |
| 8 | g.43122550G>T | CA460787397 | POMK | c.726G>T (p.Val242=) c.*522G>T (n.*522G>T) c.444G>T (p.Val148=) c.*646G>T (n.*646G>T) c.684G>T (p.Val228=) c.*511G>T (n.*511G>T) | |
| 8 | g.43122551A>C | CA371122527 | POMK | c.727A>C (p.Lys243Gln) c.*523A>C (n.*523A>C) c.445A>C (p.Lys149Gln) c.*647A>C (n.*647A>C) c.685A>C (p.Lys229Gln) c.*512A>C (n.*512A>C) | |
| 8 | g.43122551A>G | CA371122528 | POMK | c.727A>G (p.Lys243Glu) c.*523A>G (n.*523A>G) c.445A>G (p.Lys149Glu) c.*647A>G (n.*647A>G) c.685A>G (p.Lys229Glu) c.*512A>G (n.*512A>G) | gnomAD v4 |
| 8 | g.43122551A>T | CA371122529 | POMK | c.727A>T (p.Lys243Ter) c.*523A>T (n.*523A>T) c.445A>T (p.Lys149Ter) c.*647A>T (n.*647A>T) c.685A>T (p.Lys229Ter) c.*512A>T (n.*512A>T) | gnomAD v4 |
| 8 | g.43122552A>C | CA371122530 | POMK | c.728A>C (p.Lys243Thr) c.*524A>C (n.*524A>C) c.446A>C (p.Lys149Thr) c.*648A>C (n.*648A>C) c.686A>C (p.Lys229Thr) c.*513A>C (n.*513A>C) | |
| 8 | g.43122552A>G | CA371122531 | POMK | c.728A>G (p.Lys243Arg) c.*524A>G (n.*524A>G) c.446A>G (p.Lys149Arg) c.*648A>G (n.*648A>G) c.686A>G (p.Lys229Arg) c.*513A>G (n.*513A>G) | |
| 8 | g.43122552A>T | CA371122532 | POMK | c.728A>T (p.Lys243Met) c.*524A>T (n.*524A>T) c.446A>T (p.Lys149Met) c.*648A>T (n.*648A>T) c.686A>T (p.Lys229Met) c.*513A>T (n.*513A>T) | |
| 8 | g.43122553G>A | CA176080340 | POMK | c.729G>A (p.Lys243=) c.*525G>A (n.*525G>A) c.447G>A (p.Lys149=) c.*649G>A (n.*649G>A) c.687G>A (p.Lys229=) c.*514G>A (n.*514G>A) | dbSNP gnomAD v4 |
| 8 | g.43122553G>C | CA371122534 | POMK | c.729G>C (p.Lys243Asn) c.*525G>C (n.*525G>C) c.447G>C (p.Lys149Asn) c.*649G>C (n.*649G>C) c.687G>C (p.Lys229Asn) c.*514G>C (n.*514G>C) | |
| 8 | g.43122553G= | CA1779747635 | POMK | c.729G= (p.Lys243=) c.*525G= (n.*525G=) c.447G= (p.Lys149=) c.*649G= (n.*649G=) c.687G= (p.Lys229=) c.*514G= (n.*514G=) | |
| 8 | g.43122553G>T | CA371122533 | POMK | c.729G>T (p.Lys243Asn) c.*525G>T (n.*525G>T) c.447G>T (p.Lys149Asn) c.*649G>T (n.*649G>T) c.687G>T (p.Lys229Asn) c.*514G>T (n.*514G>T) | gnomAD v4 |
| 8 | g.43122554T>A | CA371122535 | POMK | c.730T>A (p.Cys244Ser) c.*526T>A (n.*526T>A) c.448T>A (p.Cys150Ser) c.*650T>A (n.*650T>A) c.688T>A (p.Cys230Ser) c.*515T>A (n.*515T>A) | |
| 8 | g.43122554T>C | CA371122536 | POMK | c.730T>C (p.Cys244Arg) c.*526T>C (n.*526T>C) c.448T>C (p.Cys150Arg) c.*650T>C (n.*650T>C) c.688T>C (p.Cys230Arg) c.*515T>C (n.*515T>C) | |
| 8 | g.43122554T>G | CA371122537 | POMK | c.730T>G (p.Cys244Gly) c.*526T>G (n.*526T>G) c.448T>G (p.Cys150Gly) c.*650T>G (n.*650T>G) c.688T>G (p.Cys230Gly) c.*515T>G (n.*515T>G) | |
| 8 | g.43122555G>A | CA371122538 | POMK | c.731G>A (p.Cys244Tyr) c.*527G>A (n.*527G>A) c.449G>A (p.Cys150Tyr) c.*651G>A (n.*651G>A) c.689G>A (p.Cys230Tyr) c.*516G>A (n.*516G>A) | |
| 8 | g.43122555G>C | CA371122539 | POMK | c.731G>C (p.Cys244Ser) c.*527G>C (n.*527G>C) c.449G>C (p.Cys150Ser) c.*651G>C (n.*651G>C) c.689G>C (p.Cys230Ser) c.*516G>C (n.*516G>C) | |
| 8 | g.43122555G>T | CA371122540 | POMK | c.731G>T (p.Cys244Phe) c.*527G>T (n.*527G>T) c.449G>T (p.Cys150Phe) c.*651G>T (n.*651G>T) c.689G>T (p.Cys230Phe) c.*516G>T (n.*516G>T) | |
| 8 | g.43122556C>A | CA371122542 | POMK | c.732C>A (p.Cys244Ter) c.*528C>A (n.*528C>A) c.450C>A (p.Cys150Ter) c.*652C>A (n.*652C>A) c.690C>A (p.Cys230Ter) c.*517C>A (n.*517C>A) | |
| 8 | g.43122556C= | CA1779747639 | POMK | c.732C= (p.Cys244=) c.*528C= (n.*528C=) c.450C= (p.Cys150=) c.*652C= (n.*652C=) c.690C= (p.Cys230=) c.*517C= (n.*517C=) | |
| 8 | g.43122556C>G | CA371122541 | POMK | c.732C>G (p.Cys244Trp) c.*528C>G (n.*528C>G) c.450C>G (p.Cys150Trp) c.*652C>G (n.*652C>G) c.690C>G (p.Cys230Trp) c.*517C>G (n.*517C>G) | |
| 8 | g.43122556C>T | CA4736346 | POMK | c.732C>T (p.Cys244=) c.*528C>T (n.*528C>T) c.450C>T (p.Cys150=) c.*652C>T (n.*652C>T) c.690C>T (p.Cys230=) c.*517C>T (n.*517C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.43122557G>A | CA371122543 | POMK | c.733G>A (p.Gly245Ser) c.*529G>A (n.*529G>A) c.451G>A (p.Gly151Ser) c.*653G>A (n.*653G>A) c.691G>A (p.Gly231Ser) c.*518G>A (n.*518G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122557G>C | CA371122544 | POMK | c.733G>C (p.Gly245Arg) c.*529G>C (n.*529G>C) c.451G>C (p.Gly151Arg) c.*653G>C (n.*653G>C) c.691G>C (p.Gly231Arg) c.*518G>C (n.*518G>C) | |
| 8 | g.43122557G= | CA1779747642 | POMK | c.733G= (p.Gly245=) c.*529G= (n.*529G=) c.451G= (p.Gly151=) c.*653G= (n.*653G=) c.691G= (p.Gly231=) c.*518G= (n.*518G=) | |
| 8 | g.43122557G>T | CA371122545 | POMK | c.733G>T (p.Gly245Cys) c.*529G>T (n.*529G>T) c.451G>T (p.Gly151Cys) c.*653G>T (n.*653G>T) c.691G>T (p.Gly231Cys) c.*518G>T (n.*518G>T) | |
| 8 | g.43122558G>A | CA371122546 | POMK | c.734G>A (p.Gly245Asp) c.*530G>A (n.*530G>A) c.452G>A (p.Gly151Asp) c.*654G>A (n.*654G>A) c.692G>A (p.Gly231Asp) c.*519G>A (n.*519G>A) | |
| 8 | g.43122558G>C | CA371122547 | POMK | c.734G>C (p.Gly245Ala) c.*530G>C (n.*530G>C) c.452G>C (p.Gly151Ala) c.*654G>C (n.*654G>C) c.692G>C (p.Gly231Ala) c.*519G>C (n.*519G>C) | |
| 8 | g.43122558G= | CA1779747645 | POMK | c.734G= (p.Gly245=) c.*530G= (n.*530G=) c.452G= (p.Gly151=) c.*654G= (n.*654G=) c.692G= (p.Gly231=) c.*519G= (n.*519G=) | |
| 8 | g.43122558G>T | CA4736347 | POMK | c.734G>T (p.Gly245Val) c.*530G>T (n.*530G>T) c.452G>T (p.Gly151Val) c.*654G>T (n.*654G>T) c.692G>T (p.Gly231Val) c.*519G>T (n.*519G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122559C>A | CA460787417 | POMK | c.735C>A (p.Gly245=) c.*531C>A (n.*531C>A) c.453C>A (p.Gly151=) c.*655C>A (n.*655C>A) c.693C>A (p.Gly231=) c.*520C>A (n.*520C>A) | |
| 8 | g.43122559C>G | CA460787418 | POMK | c.735C>G (p.Gly245=) c.*531C>G (n.*531C>G) c.453C>G (p.Gly151=) c.*655C>G (n.*655C>G) c.693C>G (p.Gly231=) c.*520C>G (n.*520C>G) | |
| 8 | g.43122559C>T | CA460787419 | POMK | c.735C>T (p.Gly245=) c.*531C>T (n.*531C>T) c.453C>T (p.Gly151=) c.*655C>T (n.*655C>T) c.693C>T (p.Gly231=) c.*520C>T (n.*520C>T) |