Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.43122299A>C | CA371121985 | POMK | c.475A>C (p.Asn159His) c.*271A>C (n.*271A>C) c.193A>C (p.Asn65His) c.*395A>C (n.*395A>C) c.433A>C (p.Asn145His) c.*260A>C (n.*260A>C) | |
8 | g.43122299A>G | CA371121987 | POMK | c.475A>G (p.Asn159Asp) c.*271A>G (n.*271A>G) c.193A>G (p.Asn65Asp) c.*395A>G (n.*395A>G) c.433A>G (p.Asn145Asp) c.*260A>G (n.*260A>G) | gnomAD v4 |
8 | g.43122299A>T | CA371121986 | POMK | c.475A>T (p.Asn159Tyr) c.*271A>T (n.*271A>T) c.193A>T (p.Asn65Tyr) c.*395A>T (n.*395A>T) c.433A>T (p.Asn145Tyr) c.*260A>T (n.*260A>T) | |
8 | g.43122300A>C | CA371121988 | POMK | c.476A>C (p.Asn159Thr) c.*272A>C (n.*272A>C) c.194A>C (p.Asn65Thr) c.*396A>C (n.*396A>C) c.434A>C (p.Asn145Thr) c.*261A>C (n.*261A>C) | |
8 | g.43122300A>G | CA371121989 | POMK | c.476A>G (p.Asn159Ser) c.*272A>G (n.*272A>G) c.194A>G (p.Asn65Ser) c.*396A>G (n.*396A>G) c.434A>G (p.Asn145Ser) c.*261A>G (n.*261A>G) | |
8 | g.43122300A>T | CA371121990 | POMK | c.476A>T (p.Asn159Ile) c.*272A>T (n.*272A>T) c.194A>T (p.Asn65Ile) c.*396A>T (n.*396A>T) c.434A>T (p.Asn145Ile) c.*261A>T (n.*261A>T) | |
8 | g.43122301C>A | CA371121991 | POMK | c.477C>A (p.Asn159Lys) c.*273C>A (n.*273C>A) c.195C>A (p.Asn65Lys) c.*397C>A (n.*397C>A) c.435C>A (p.Asn145Lys) c.*262C>A (n.*262C>A) | gnomAD v4 |
8 | g.43122301C= | CA1779747189 | POMK | c.477C= (p.Asn159=) c.*273C= (n.*273C=) c.195C= (p.Asn65=) c.*397C= (n.*397C=) c.435C= (p.Asn145=) c.*262C= (n.*262C=) | |
8 | g.43122301C>G | CA371121992 | POMK | c.477C>G (p.Asn159Lys) c.*273C>G (n.*273C>G) c.195C>G (p.Asn65Lys) c.*397C>G (n.*397C>G) c.435C>G (p.Asn145Lys) c.*262C>G (n.*262C>G) | |
8 | g.43122301C>T | CA460787536 | POMK | c.477C>T (p.Asn159=) c.*273C>T (n.*273C>T) c.195C>T (p.Asn65=) c.*397C>T (n.*397C>T) c.435C>T (p.Asn145=) c.*262C>T (n.*262C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122302C>A | CA371121993 | POMK | c.478C>A (p.Leu160Met) c.*274C>A (n.*274C>A) c.196C>A (p.Leu66Met) c.*398C>A (n.*398C>A) c.436C>A (p.Leu146Met) c.*263C>A (n.*263C>A) | |
8 | g.43122302C>G | CA371121994 | POMK | c.478C>G (p.Leu160Val) c.*274C>G (n.*274C>G) c.196C>G (p.Leu66Val) c.*398C>G (n.*398C>G) c.436C>G (p.Leu146Val) c.*263C>G (n.*263C>G) | |
8 | g.43122302C>T | CA460787537 | POMK | c.478C>T (p.Leu160=) c.*274C>T (n.*274C>T) c.196C>T (p.Leu66=) c.*398C>T (n.*398C>T) c.436C>T (p.Leu146=) c.*263C>T (n.*263C>T) | |
8 | g.43122303T>A | CA371121995 | POMK | c.479T>A (p.Leu160Gln) c.*275T>A (n.*275T>A) c.197T>A (p.Leu66Gln) c.*399T>A (n.*399T>A) c.437T>A (p.Leu146Gln) c.*264T>A (n.*264T>A) | gnomAD v4 |
8 | g.43122303T>C | CA371121996 | POMK | c.479T>C (p.Leu160Pro) c.*275T>C (n.*275T>C) c.197T>C (p.Leu66Pro) c.*399T>C (n.*399T>C) c.437T>C (p.Leu146Pro) c.*264T>C (n.*264T>C) | |
8 | g.43122303T>G | CA371121997 | POMK | c.479T>G (p.Leu160Arg) c.*275T>G (n.*275T>G) c.197T>G (p.Leu66Arg) c.*399T>G (n.*399T>G) c.437T>G (p.Leu146Arg) c.*264T>G (n.*264T>G) | |
8 | g.43122304G>A | CA460787541 | POMK | c.480G>A (p.Leu160=) c.*276G>A (n.*276G>A) c.198G>A (p.Leu66=) c.*400G>A (n.*400G>A) c.438G>A (p.Leu146=) c.*265G>A (n.*265G>A) | |
8 | g.43122304G>C | CA460787542 | POMK | c.480G>C (p.Leu160=) c.*276G>C (n.*276G>C) c.198G>C (p.Leu66=) c.*400G>C (n.*400G>C) c.438G>C (p.Leu146=) c.*265G>C (n.*265G>C) | |
8 | g.43122304G>T | CA460787543 | POMK | c.480G>T (p.Leu160=) c.*276G>T (n.*276G>T) c.198G>T (p.Leu66=) c.*400G>T (n.*400G>T) c.438G>T (p.Leu146=) c.*265G>T (n.*265G>T) | |
8 | g.43122305G>A | CA371121998 | POMK | c.481G>A (p.Glu161Lys) c.*277G>A (n.*277G>A) c.199G>A (p.Glu67Lys) c.*401G>A (n.*401G>A) c.439G>A (p.Glu147Lys) c.*266G>A (n.*266G>A) | ClinVar dbSNP gnomAD v4 |
8 | g.43122305G>C | CA371121999 | POMK | c.481G>C (p.Glu161Gln) c.*277G>C (n.*277G>C) c.199G>C (p.Glu67Gln) c.*401G>C (n.*401G>C) c.439G>C (p.Glu147Gln) c.*266G>C (n.*266G>C) | |
8 | g.43122305G>T | CA371122000 | POMK | c.481G>T (p.Glu161Ter) c.*277G>T (n.*277G>T) c.199G>T (p.Glu67Ter) c.*401G>T (n.*401G>T) c.439G>T (p.Glu147Ter) c.*266G>T (n.*266G>T) | |
8 | g.43122306A>C | CA371122001 | POMK | c.482A>C (p.Glu161Ala) c.*278A>C (n.*278A>C) c.200A>C (p.Glu67Ala) c.*402A>C (n.*402A>C) c.440A>C (p.Glu147Ala) c.*267A>C (n.*267A>C) | |
8 | g.43122306A>G | CA371122003 | POMK | c.482A>G (p.Glu161Gly) c.*278A>G (n.*278A>G) c.200A>G (p.Glu67Gly) c.*402A>G (n.*402A>G) c.440A>G (p.Glu147Gly) c.*267A>G (n.*267A>G) | |
8 | g.43122306A>T | CA371122002 | POMK | c.482A>T (p.Glu161Val) c.*278A>T (n.*278A>T) c.200A>T (p.Glu67Val) c.*402A>T (n.*402A>T) c.440A>T (p.Glu147Val) c.*267A>T (n.*267A>T) | |
8 | g.43122307A>C | CA371122004 | POMK | c.483A>C (p.Glu161Asp) c.*279A>C (n.*279A>C) c.201A>C (p.Glu67Asp) c.*403A>C (n.*403A>C) c.441A>C (p.Glu147Asp) c.*268A>C (n.*268A>C) | |
8 | g.43122307A>G | CA460787548 | POMK | c.483A>G (p.Glu161=) c.*279A>G (n.*279A>G) c.201A>G (p.Glu67=) c.*403A>G (n.*403A>G) c.441A>G (p.Glu147=) c.*268A>G (n.*268A>G) | |
8 | g.43122307A>T | CA371122005 | POMK | c.483A>T (p.Glu161Asp) c.*279A>T (n.*279A>T) c.201A>T (p.Glu67Asp) c.*403A>T (n.*403A>T) c.441A>T (p.Glu147Asp) c.*268A>T (n.*268A>T) | |
8 | g.43122308G>A | CA371122006 | POMK | c.484G>A (p.Glu162Lys) c.*280G>A (n.*280G>A) c.202G>A (p.Glu68Lys) c.*404G>A (n.*404G>A) c.442G>A (p.Glu148Lys) c.*269G>A (n.*269G>A) | |
8 | g.43122308G>C | CA371122007 | POMK | c.484G>C (p.Glu162Gln) c.*280G>C (n.*280G>C) c.202G>C (p.Glu68Gln) c.*404G>C (n.*404G>C) c.442G>C (p.Glu148Gln) c.*269G>C (n.*269G>C) | |
8 | g.43122308G= | CA1779747192 | POMK | c.484G= (p.Glu162=) c.*280G= (n.*280G=) c.202G= (p.Glu68=) c.*404G= (n.*404G=) c.442G= (p.Glu148=) c.*269G= (n.*269G=) | |
8 | g.43122308G>T | CA4736291 | POMK | c.484G>T (p.Glu162Ter) c.*280G>T (n.*280G>T) c.202G>T (p.Glu68Ter) c.*404G>T (n.*404G>T) c.442G>T (p.Glu148Ter) c.*269G>T (n.*269G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122309A>C | CA371122008 | POMK | c.485A>C (p.Glu162Ala) c.*281A>C (n.*281A>C) c.203A>C (p.Glu68Ala) c.*405A>C (n.*405A>C) c.443A>C (p.Glu148Ala) c.*270A>C (n.*270A>C) | |
8 | g.43122309A>G | CA371122009 | POMK | c.485A>G (p.Glu162Gly) c.*281A>G (n.*281A>G) c.203A>G (p.Glu68Gly) c.*405A>G (n.*405A>G) c.443A>G (p.Glu148Gly) c.*270A>G (n.*270A>G) | |
8 | g.43122309A>T | CA371122010 | POMK | c.485A>T (p.Glu162Val) c.*281A>T (n.*281A>T) c.203A>T (p.Glu68Val) c.*405A>T (n.*405A>T) c.443A>T (p.Glu148Val) c.*270A>T (n.*270A>T) | |
8 | g.43122310A>C | CA371122011 | POMK | c.486A>C (p.Glu162Asp) c.*282A>C (n.*282A>C) c.204A>C (p.Glu68Asp) c.*406A>C (n.*406A>C) c.444A>C (p.Glu148Asp) c.*271A>C (n.*271A>C) | |
8 | g.43122310A>G | CA460787552 | POMK | c.486A>G (p.Glu162=) c.*282A>G (n.*282A>G) c.204A>G (p.Glu68=) c.*406A>G (n.*406A>G) c.444A>G (p.Glu148=) c.*271A>G (n.*271A>G) | |
8 | g.43122310A>T | CA371122012 | POMK | c.486A>T (p.Glu162Asp) c.*282A>T (n.*282A>T) c.204A>T (p.Glu68Asp) c.*406A>T (n.*406A>T) c.444A>T (p.Glu148Asp) c.*271A>T (n.*271A>T) | |
8 | g.43122311A= | CA1779747194 | POMK | c.487A= (p.Thr163=) c.*283A= (n.*283A=) c.205A= (p.Thr69=) c.*407A= (n.*407A=) c.445A= (p.Thr149=) c.*272A= (n.*272A=) | |
8 | g.43122311A>C | CA371122013 | POMK | c.487A>C (p.Thr163Pro) c.*283A>C (n.*283A>C) c.205A>C (p.Thr69Pro) c.*407A>C (n.*407A>C) c.445A>C (p.Thr149Pro) c.*272A>C (n.*272A>C) | |
8 | g.43122311A>G | CA371122014 | POMK | c.487A>G (p.Thr163Ala) c.*283A>G (n.*283A>G) c.205A>G (p.Thr69Ala) c.*407A>G (n.*407A>G) c.445A>G (p.Thr149Ala) c.*272A>G (n.*272A>G) | gnomAD v4 |
8 | g.43122311A>T | CA4736292 | POMK | c.487A>T (p.Thr163Ser) c.*283A>T (n.*283A>T) c.205A>T (p.Thr69Ser) c.*407A>T (n.*407A>T) c.445A>T (p.Thr149Ser) c.*272A>T (n.*272A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122312C>A | CA4736293 | POMK | c.488C>A (p.Thr163Lys) c.*284C>A (n.*284C>A) c.206C>A (p.Thr69Lys) c.*408C>A (n.*408C>A) c.446C>A (p.Thr149Lys) c.*273C>A (n.*273C>A) | dbSNP ExAC gnomAD v2 |
8 | g.43122312C= | CA1779747196 | POMK | c.488C= (p.Thr163=) c.*284C= (n.*284C=) c.206C= (p.Thr69=) c.*408C= (n.*408C=) c.446C= (p.Thr149=) c.*273C= (n.*273C=) | |
8 | g.43122312C>G | CA371122016 | POMK | c.488C>G (p.Thr163Arg) c.*284C>G (n.*284C>G) c.206C>G (p.Thr69Arg) c.*408C>G (n.*408C>G) c.446C>G (p.Thr149Arg) c.*273C>G (n.*273C>G) | |
8 | g.43122312C>T | CA371122015 | POMK | c.488C>T (p.Thr163Ile) c.*284C>T (n.*284C>T) c.206C>T (p.Thr69Ile) c.*408C>T (n.*408C>T) c.446C>T (p.Thr149Ile) c.*273C>T (n.*273C>T) | |
8 | g.43122313A= | CA1779747198 | POMK | c.489A= (p.Thr163=) c.*285A= (n.*285A=) c.207A= (p.Thr69=) c.*409A= (n.*409A=) c.447A= (p.Thr149=) c.*274A= (n.*274A=) | |
8 | g.43122313A>C | CA460787554 | POMK | c.489A>C (p.Thr163=) c.*285A>C (n.*285A>C) c.207A>C (p.Thr69=) c.*409A>C (n.*409A>C) c.447A>C (p.Thr149=) c.*274A>C (n.*274A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122313A>G | CA460787558 | POMK | c.489A>G (p.Thr163=) c.*285A>G (n.*285A>G) c.207A>G (p.Thr69=) c.*409A>G (n.*409A>G) c.447A>G (p.Thr149=) c.*274A>G (n.*274A>G) | dbSNP |
8 | g.43122313A>T | CA460787556 | POMK | c.489A>T (p.Thr163=) c.*285A>T (n.*285A>T) c.207A>T (p.Thr69=) c.*409A>T (n.*409A>T) c.447A>T (p.Thr149=) c.*274A>T (n.*274A>T) | |
8 | g.43122314C>A | CA371122017 | POMK | c.490C>A (p.Leu164Ile) c.*286C>A (n.*286C>A) c.208C>A (p.Leu70Ile) c.*410C>A (n.*410C>A) c.448C>A (p.Leu150Ile) c.*275C>A (n.*275C>A) | |
8 | g.43122314C>G | CA371122018 | POMK | c.490C>G (p.Leu164Val) c.*286C>G (n.*286C>G) c.208C>G (p.Leu70Val) c.*410C>G (n.*410C>G) c.448C>G (p.Leu150Val) c.*275C>G (n.*275C>G) | |
8 | g.43122314C>T | CA460787559 | POMK | c.490C>T (p.Leu164=) c.*286C>T (n.*286C>T) c.208C>T (p.Leu70=) c.*410C>T (n.*410C>T) c.448C>T (p.Leu150=) c.*275C>T (n.*275C>T) | |
8 | g.43122315T>A | CA371122019 | POMK | c.491T>A (p.Leu164Gln) c.*287T>A (n.*287T>A) c.209T>A (p.Leu70Gln) c.*411T>A (n.*411T>A) c.449T>A (p.Leu150Gln) c.*276T>A (n.*276T>A) | |
8 | g.43122315T>C | CA371122020 | POMK | c.491T>C (p.Leu164Pro) c.*287T>C (n.*287T>C) c.209T>C (p.Leu70Pro) c.*411T>C (n.*411T>C) c.449T>C (p.Leu150Pro) c.*276T>C (n.*276T>C) | gnomAD v4 |
8 | g.43122315T>G | CA371122021 | POMK | c.491T>G (p.Leu164Arg) c.*287T>G (n.*287T>G) c.209T>G (p.Leu70Arg) c.*411T>G (n.*411T>G) c.449T>G (p.Leu150Arg) c.*276T>G (n.*276T>G) | |
8 | g.43122316A= | CA1779747200 | POMK | c.492A= (p.Leu164=) c.*288A= (n.*288A=) c.210A= (p.Leu70=) c.*412A= (n.*412A=) c.450A= (p.Leu150=) c.*277A= (n.*277A=) | |
8 | g.43122316A>C | CA460787563 | POMK | c.492A>C (p.Leu164=) c.*288A>C (n.*288A>C) c.210A>C (p.Leu70=) c.*412A>C (n.*412A>C) c.450A>C (p.Leu150=) c.*277A>C (n.*277A>C) | |
8 | g.43122316A>G | CA460787564 | POMK | c.492A>G (p.Leu164=) c.*288A>G (n.*288A>G) c.210A>G (p.Leu70=) c.*412A>G (n.*412A>G) c.450A>G (p.Leu150=) c.*277A>G (n.*277A>G) | dbSNP |
8 | g.43122316A>T | CA460787565 | POMK | c.492A>T (p.Leu164=) c.*288A>T (n.*288A>T) c.210A>T (p.Leu70=) c.*412A>T (n.*412A>T) c.450A>T (p.Leu150=) c.*277A>T (n.*277A>T) | |
8 | g.43122317A>C | CA371122022 | POMK | c.493A>C (p.Asn165His) c.*289A>C (n.*289A>C) c.211A>C (p.Asn71His) c.*413A>C (n.*413A>C) c.451A>C (p.Asn151His) c.*278A>C (n.*278A>C) | |
8 | g.43122317A>G | CA371122023 | POMK | c.493A>G (p.Asn165Asp) c.*289A>G (n.*289A>G) c.211A>G (p.Asn71Asp) c.*413A>G (n.*413A>G) c.451A>G (p.Asn151Asp) c.*278A>G (n.*278A>G) | |
8 | g.43122317A>T | CA371122024 | POMK | c.493A>T (p.Asn165Tyr) c.*289A>T (n.*289A>T) c.211A>T (p.Asn71Tyr) c.*413A>T (n.*413A>T) c.451A>T (p.Asn151Tyr) c.*278A>T (n.*278A>T) | |
8 | g.43122318A>C | CA371122027 | POMK | c.494A>C (p.Asn165Thr) c.*290A>C (n.*290A>C) c.212A>C (p.Asn71Thr) c.*414A>C (n.*414A>C) c.452A>C (p.Asn151Thr) c.*279A>C (n.*279A>C) | |
8 | g.43122318A>G | CA371122025 | POMK | c.494A>G (p.Asn165Ser) c.*290A>G (n.*290A>G) c.212A>G (p.Asn71Ser) c.*414A>G (n.*414A>G) c.452A>G (p.Asn151Ser) c.*279A>G (n.*279A>G) | |
8 | g.43122318A>T | CA371122026 | POMK | c.494A>T (p.Asn165Ile) c.*290A>T (n.*290A>T) c.212A>T (p.Asn71Ile) c.*414A>T (n.*414A>T) c.452A>T (p.Asn151Ile) c.*279A>T (n.*279A>T) | gnomAD v4 |
8 | g.43122319C>A | CA371122028 | POMK | c.495C>A (p.Asn165Lys) c.*291C>A (n.*291C>A) c.213C>A (p.Asn71Lys) c.*415C>A (n.*415C>A) c.453C>A (p.Asn151Lys) c.*280C>A (n.*280C>A) | |
8 | g.43122319C>G | CA371122029 | POMK | c.495C>G (p.Asn165Lys) c.*291C>G (n.*291C>G) c.213C>G (p.Asn71Lys) c.*415C>G (n.*415C>G) c.453C>G (p.Asn151Lys) c.*280C>G (n.*280C>G) | dbSNP |
8 | g.43122319C>T | CA460787570 | POMK | c.495C>T (p.Asn165=) c.*291C>T (n.*291C>T) c.213C>T (p.Asn71=) c.*415C>T (n.*415C>T) c.453C>T (p.Asn151=) c.*280C>T (n.*280C>T) | |
8 | g.43122320C>A | CA371122030 | POMK | c.496C>A (p.Leu166Ile) c.*292C>A (n.*292C>A) c.214C>A (p.Leu72Ile) c.*416C>A (n.*416C>A) c.454C>A (p.Leu152Ile) c.*281C>A (n.*281C>A) | |
8 | g.43122320C>G | CA371122031 | POMK | c.496C>G (p.Leu166Val) c.*292C>G (n.*292C>G) c.214C>G (p.Leu72Val) c.*416C>G (n.*416C>G) c.454C>G (p.Leu152Val) c.*281C>G (n.*281C>G) | |
8 | g.43122320C>T | CA371122032 | POMK | c.496C>T (p.Leu166Phe) c.*292C>T (n.*292C>T) c.214C>T (p.Leu72Phe) c.*416C>T (n.*416C>T) c.454C>T (p.Leu152Phe) c.*281C>T (n.*281C>T) | |
8 | g.43122321T>A | CA371122033 | POMK | c.497T>A (p.Leu166His) c.*293T>A (n.*293T>A) c.215T>A (p.Leu72His) c.*417T>A (n.*417T>A) c.455T>A (p.Leu152His) c.*282T>A (n.*282T>A) | |
8 | g.43122321T>C | CA371122035 | POMK | c.497T>C (p.Leu166Pro) c.*293T>C (n.*293T>C) c.215T>C (p.Leu72Pro) c.*417T>C (n.*417T>C) c.455T>C (p.Leu152Pro) c.*282T>C (n.*282T>C) | |
8 | g.43122321T>G | CA371122034 | POMK | c.497T>G (p.Leu166Arg) c.*293T>G (n.*293T>G) c.215T>G (p.Leu72Arg) c.*417T>G (n.*417T>G) c.455T>G (p.Leu152Arg) c.*282T>G (n.*282T>G) | |
8 | g.43122321_43122323dup | CA2687148199 | POMK | c.497_499dup (p.Leu166_Ser167insPhe) c.*293_*295dup (n.*293_*295dup) c.215_217dup (p.Leu72_Ser73insPhe) c.*417_*419dup (n.*417_*419dup) c.455_457dup (p.Leu152_Ser153insPhe) c.*282_*284dup (n.*282_*284dup) | gnomAD v4 |
8 | g.43122322T>A | CA460787572 | POMK | c.498T>A (p.Leu166=) c.*294T>A (n.*294T>A) c.216T>A (p.Leu72=) c.*418T>A (n.*418T>A) c.456T>A (p.Leu152=) c.*283T>A (n.*283T>A) | |
8 | g.43122322T>C | CA460787573 | POMK | c.498T>C (p.Leu166=) c.*294T>C (n.*294T>C) c.216T>C (p.Leu72=) c.*418T>C (n.*418T>C) c.456T>C (p.Leu152=) c.*283T>C (n.*283T>C) | |
8 | g.43122322T>G | CA460787571 | POMK | c.498T>G (p.Leu166=) c.*294T>G (n.*294T>G) c.216T>G (p.Leu72=) c.*418T>G (n.*418T>G) c.456T>G (p.Leu152=) c.*283T>G (n.*283T>G) | |
8 | g.43122323T>A | CA371122036 | POMK | c.499T>A (p.Ser167Thr) c.*295T>A (n.*295T>A) c.217T>A (p.Ser73Thr) c.*419T>A (n.*419T>A) c.457T>A (p.Ser153Thr) c.*284T>A (n.*284T>A) | |
8 | g.43122323T>C | CA371122037 | POMK | c.499T>C (p.Ser167Pro) c.*295T>C (n.*295T>C) c.217T>C (p.Ser73Pro) c.*419T>C (n.*419T>C) c.457T>C (p.Ser153Pro) c.*284T>C (n.*284T>C) | |
8 | g.43122323T>G | CA371122038 | POMK | c.499T>G (p.Ser167Ala) c.*295T>G (n.*295T>G) c.217T>G (p.Ser73Ala) c.*419T>G (n.*419T>G) c.457T>G (p.Ser153Ala) c.*284T>G (n.*284T>G) | gnomAD v4 |
8 | g.43122324C>A | CA176079943 | POMK | c.500C>A (p.Ser167Ter) c.*296C>A (n.*296C>A) c.218C>A (p.Ser73Ter) c.*420C>A (n.*420C>A) c.458C>A (p.Ser153Ter) c.*285C>A (n.*285C>A) | dbSNP gnomAD v4 |
8 | g.43122324C= | CA1779747202 | POMK | c.500C= (p.Ser167=) c.*296C= (n.*296C=) c.218C= (p.Ser73=) c.*420C= (n.*420C=) c.458C= (p.Ser153=) c.*285C= (n.*285C=) | |
8 | g.43122324C>G | CA371122039 | POMK | c.500C>G (p.Ser167Ter) c.*296C>G (n.*296C>G) c.218C>G (p.Ser73Ter) c.*420C>G (n.*420C>G) c.458C>G (p.Ser153Ter) c.*285C>G (n.*285C>G) | |
8 | g.43122324C>T | CA371122040 | POMK | c.500C>T (p.Ser167Leu) c.*296C>T (n.*296C>T) c.218C>T (p.Ser73Leu) c.*420C>T (n.*420C>T) c.458C>T (p.Ser153Leu) c.*285C>T (n.*285C>T) | |
8 | g.43122325A>C | CA460787578 | POMK | c.501A>C (p.Ser167=) c.*297A>C (n.*297A>C) c.219A>C (p.Ser73=) c.*421A>C (n.*421A>C) c.459A>C (p.Ser153=) c.*286A>C (n.*286A>C) | |
8 | g.43122325A>G | CA460787579 | POMK | c.501A>G (p.Ser167=) c.*297A>G (n.*297A>G) c.219A>G (p.Ser73=) c.*421A>G (n.*421A>G) c.459A>G (p.Ser153=) c.*286A>G (n.*286A>G) | |
8 | g.43122325A>T | CA460787580 | POMK | c.501A>T (p.Ser167=) c.*297A>T (n.*297A>T) c.219A>T (p.Ser73=) c.*421A>T (n.*421A>T) c.459A>T (p.Ser153=) c.*286A>T (n.*286A>T) | |
8 | g.43122326A= | CA1779747204 | POMK | c.502A= (p.Lys168=) c.*298A= (n.*298A=) c.220A= (p.Lys74=) c.*422A= (n.*422A=) c.460A= (p.Lys154=) c.*287A= (n.*287A=) | |
8 | g.43122326A>C | CA4736294 | POMK | c.502A>C (p.Lys168Gln) c.*298A>C (n.*298A>C) c.220A>C (p.Lys74Gln) c.*422A>C (n.*422A>C) c.460A>C (p.Lys154Gln) c.*287A>C (n.*287A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122326A>G | CA371122041 | POMK | c.502A>G (p.Lys168Glu) c.*298A>G (n.*298A>G) c.220A>G (p.Lys74Glu) c.*422A>G (n.*422A>G) c.460A>G (p.Lys154Glu) c.*287A>G (n.*287A>G) | ClinVar |
8 | g.43122326A>T | CA371122042 | POMK | c.502A>T (p.Lys168Ter) c.*298A>T (n.*298A>T) c.220A>T (p.Lys74Ter) c.*422A>T (n.*422A>T) c.460A>T (p.Lys154Ter) c.*287A>T (n.*287A>T) | dbSNP gnomAD v4 |
8 | g.43122327A>C | CA371122043 | POMK | c.503A>C (p.Lys168Thr) c.*299A>C (n.*299A>C) c.221A>C (p.Lys74Thr) c.*423A>C (n.*423A>C) c.461A>C (p.Lys154Thr) c.*288A>C (n.*288A>C) | |
8 | g.43122327A>G | CA371122044 | POMK | c.503A>G (p.Lys168Arg) c.*299A>G (n.*299A>G) c.221A>G (p.Lys74Arg) c.*423A>G (n.*423A>G) c.461A>G (p.Lys154Arg) c.*288A>G (n.*288A>G) | |
8 | g.43122327A>T | CA371122045 | POMK | c.503A>T (p.Lys168Met) c.*299A>T (n.*299A>T) c.221A>T (p.Lys74Met) c.*423A>T (n.*423A>T) c.461A>T (p.Lys154Met) c.*288A>T (n.*288A>T) | |
8 | g.43122328G>A | CA460787586 | POMK | c.504G>A (p.Lys168=) c.*300G>A (n.*300G>A) c.222G>A (p.Lys74=) c.*424G>A (n.*424G>A) c.462G>A (p.Lys154=) c.*289G>A (n.*289G>A) | ClinVar |
8 | g.43122328G>C | CA4736295 | POMK | c.504G>C (p.Lys168Asn) c.*300G>C (n.*300G>C) c.222G>C (p.Lys74Asn) c.*424G>C (n.*424G>C) c.462G>C (p.Lys154Asn) c.*289G>C (n.*289G>C) | dbSNP ExAC gnomAD v2 |
8 | g.43122328G= | CA1779747208 | POMK | c.504G= (p.Lys168=) c.*300G= (n.*300G=) c.222G= (p.Lys74=) c.*424G= (n.*424G=) c.462G= (p.Lys154=) c.*289G= (n.*289G=) | |
8 | g.43122328G>T | CA371122046 | POMK | c.504G>T (p.Lys168Asn) c.*300G>T (n.*300G>T) c.222G>T (p.Lys74Asn) c.*424G>T (n.*424G>T) c.462G>T (p.Lys154Asn) c.*289G>T (n.*289G>T) | |
8 | g.43122329T>A | CA371122047 | POMK | c.505T>A (p.Tyr169Asn) c.*301T>A (n.*301T>A) c.223T>A (p.Tyr75Asn) c.*425T>A (n.*425T>A) c.463T>A (p.Tyr155Asn) c.*290T>A (n.*290T>A) | |
8 | g.43122329T>C | CA371122048 | POMK | c.505T>C (p.Tyr169His) c.*301T>C (n.*301T>C) c.223T>C (p.Tyr75His) c.*425T>C (n.*425T>C) c.463T>C (p.Tyr155His) c.*290T>C (n.*290T>C) | ClinVar dbSNP |
8 | g.43122329T>G | CA371122049 | POMK | c.505T>G (p.Tyr169Asp) c.*301T>G (n.*301T>G) c.223T>G (p.Tyr75Asp) c.*425T>G (n.*425T>G) c.463T>G (p.Tyr155Asp) c.*290T>G (n.*290T>G) | |
8 | g.43122329_43122330delinsTA | CA1779747212 | POMK | c.505_506delinsTA (p.Tyr169=) c.*301_*302delinsTA (n.*301_*302delinsTA) c.223_224delinsTA (p.Tyr75=) c.*425_*426delinsTA (n.*425_*426delinsTA) c.463_464delinsTA (p.Tyr155=) c.*290_*291delinsTA (n.*290_*291delinsTA) | |
8 | g.43122330del | CA176079948 | POMK | c.506del (p.Tyr169SerfsTer4) c.*302del (n.*302del) c.224del (p.Tyr75SerfsTer4) c.*426del (n.*426del) c.464del (p.Tyr155SerfsTer4) c.*291del (n.*291del) | dbSNP |
8 | g.43122330A>C | CA371122050 | POMK | c.506A>C (p.Tyr169Ser) c.*302A>C (n.*302A>C) c.224A>C (p.Tyr75Ser) c.*426A>C (n.*426A>C) c.464A>C (p.Tyr155Ser) c.*291A>C (n.*291A>C) | |
8 | g.43122330A>G | CA371122051 | POMK | c.506A>G (p.Tyr169Cys) c.*302A>G (n.*302A>G) c.224A>G (p.Tyr75Cys) c.*426A>G (n.*426A>G) c.464A>G (p.Tyr155Cys) c.*291A>G (n.*291A>G) | |
8 | g.43122330A>T | CA371122052 | POMK | c.506A>T (p.Tyr169Phe) c.*302A>T (n.*302A>T) c.224A>T (p.Tyr75Phe) c.*426A>T (n.*426A>T) c.464A>T (p.Tyr155Phe) c.*291A>T (n.*291A>T) | |
8 | g.43122331C>A | CA371122053 | POMK | c.507C>A (p.Tyr169Ter) c.*303C>A (n.*303C>A) c.225C>A (p.Tyr75Ter) c.*427C>A (n.*427C>A) c.465C>A (p.Tyr155Ter) c.*292C>A (n.*292C>A) | |
8 | g.43122331C= | CA1779747217 | POMK | c.507C= (p.Tyr169=) c.*303C= (n.*303C=) c.225C= (p.Tyr75=) c.*427C= (n.*427C=) c.465C= (p.Tyr155=) c.*292C= (n.*292C=) | |
8 | g.43122331C>G | CA371122054 | POMK | c.507C>G (p.Tyr169Ter) c.*303C>G (n.*303C>G) c.225C>G (p.Tyr75Ter) c.*427C>G (n.*427C>G) c.465C>G (p.Tyr155Ter) c.*292C>G (n.*292C>G) | |
8 | g.43122331C>T | CA460787590 | POMK | c.507C>T (p.Tyr169=) c.*303C>T (n.*303C>T) c.225C>T (p.Tyr75=) c.*427C>T (n.*427C>T) c.465C>T (p.Tyr155=) c.*292C>T (n.*292C>T) | dbSNP gnomAD v4 |
8 | g.43122332C>A | CA371122055 | POMK | c.508C>A (p.Gln170Lys) c.*304C>A (n.*304C>A) c.226C>A (p.Gln76Lys) c.*428C>A (n.*428C>A) c.466C>A (p.Gln156Lys) c.*293C>A (n.*293C>A) | |
8 | g.43122332C= | CA1779747219 | POMK | c.508C= (p.Gln170=) c.*304C= (n.*304C=) c.226C= (p.Gln76=) c.*428C= (n.*428C=) c.466C= (p.Gln156=) c.*293C= (n.*293C=) | |
8 | g.43122332C>G | CA371122056 | POMK | c.508C>G (p.Gln170Glu) c.*304C>G (n.*304C>G) c.226C>G (p.Gln76Glu) c.*428C>G (n.*428C>G) c.466C>G (p.Gln156Glu) c.*293C>G (n.*293C>G) | |
8 | g.43122332C>T | CA371122057 | POMK | c.508C>T (p.Gln170Ter) c.*304C>T (n.*304C>T) c.226C>T (p.Gln76Ter) c.*428C>T (n.*428C>T) c.466C>T (p.Gln156Ter) c.*293C>T (n.*293C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122332_43122333delinsCA | CA1779747220 | POMK | c.508_509delinsCA (p.Gln170=) c.*304_*305delinsCA (n.*304_*305delinsCA) c.226_227delinsCA (p.Gln76=) c.*428_*429delinsCA (n.*428_*429delinsCA) c.466_467delinsCA (p.Gln156=) c.*293_*294delinsCA (n.*293_*294delinsCA) | |
8 | g.43122333A>C | CA371122059 | POMK | c.509A>C (p.Gln170Pro) c.*305A>C (n.*305A>C) c.227A>C (p.Gln76Pro) c.*429A>C (n.*429A>C) c.467A>C (p.Gln156Pro) c.*294A>C (n.*294A>C) | |
8 | g.43122333A>G | CA371122060 | POMK | c.509A>G (p.Gln170Arg) c.*305A>G (n.*305A>G) c.227A>G (p.Gln76Arg) c.*429A>G (n.*429A>G) c.467A>G (p.Gln156Arg) c.*294A>G (n.*294A>G) | |
8 | g.43122333A>T | CA371122058 | POMK | c.509A>T (p.Gln170Leu) c.*305A>T (n.*305A>T) c.227A>T (p.Gln76Leu) c.*429A>T (n.*429A>T) c.467A>T (p.Gln156Leu) c.*294A>T (n.*294A>T) | |
8 | g.43122336del | CA4736296 | POMK | c.512del (p.Asn171MetfsTer2) c.*308del (n.*308del) c.230del (p.Asn77MetfsTer2) c.*432del (n.*432del) c.470del (p.Asn157MetfsTer2) c.*297del (n.*297del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122334A>C | CA371122061 | POMK | c.510A>C (p.Gln170His) c.*306A>C (n.*306A>C) c.228A>C (p.Gln76His) c.*430A>C (n.*430A>C) c.468A>C (p.Gln156His) c.*295A>C (n.*295A>C) | |
8 | g.43122334A>G | CA460787593 | POMK | c.510A>G (p.Gln170=) c.*306A>G (n.*306A>G) c.228A>G (p.Gln76=) c.*430A>G (n.*430A>G) c.468A>G (p.Gln156=) c.*295A>G (n.*295A>G) | gnomAD v4 |
8 | g.43122334A>T | CA371122062 | POMK | c.510A>T (p.Gln170His) c.*306A>T (n.*306A>T) c.228A>T (p.Gln76His) c.*430A>T (n.*430A>T) c.468A>T (p.Gln156His) c.*295A>T (n.*295A>T) | |
8 | g.43122335A>C | CA371122063 | POMK | c.511A>C (p.Asn171His) c.*307A>C (n.*307A>C) c.229A>C (p.Asn77His) c.*431A>C (n.*431A>C) c.469A>C (p.Asn157His) c.*296A>C (n.*296A>C) | |
8 | g.43122335A>G | CA371122064 | POMK | c.511A>G (p.Asn171Asp) c.*307A>G (n.*307A>G) c.229A>G (p.Asn77Asp) c.*431A>G (n.*431A>G) c.469A>G (p.Asn157Asp) c.*296A>G (n.*296A>G) | gnomAD v4 |
8 | g.43122335A>T | CA371122065 | POMK | c.511A>T (p.Asn171Tyr) c.*307A>T (n.*307A>T) c.229A>T (p.Asn77Tyr) c.*431A>T (n.*431A>T) c.469A>T (p.Asn157Tyr) c.*296A>T (n.*296A>T) | gnomAD v4 |
8 | g.43122336A>C | CA371122068 | POMK | c.512A>C (p.Asn171Thr) c.*308A>C (n.*308A>C) c.230A>C (p.Asn77Thr) c.*432A>C (n.*432A>C) c.470A>C (p.Asn157Thr) c.*297A>C (n.*297A>C) | |
8 | g.43122336A>G | CA371122066 | POMK | c.512A>G (p.Asn171Ser) c.*308A>G (n.*308A>G) c.230A>G (p.Asn77Ser) c.*432A>G (n.*432A>G) c.470A>G (p.Asn157Ser) c.*297A>G (n.*297A>G) | |
8 | g.43122336A>T | CA371122067 | POMK | c.512A>T (p.Asn171Ile) c.*308A>T (n.*308A>T) c.230A>T (p.Asn77Ile) c.*432A>T (n.*432A>T) c.470A>T (p.Asn157Ile) c.*297A>T (n.*297A>T) | |
8 | g.43122336_43122338delinsATG | CA1779747225 | POMK | c.512_514delinsATG (p.Asn171=) c.*308_*310delinsATG (n.*308_*310delinsATG) c.230_232delinsATG (p.Asn77=) c.*432_*434delinsATG (n.*432_*434delinsATG) c.470_472delinsATG (p.Asn157=) c.*297_*299delinsATG (n.*297_*299delinsATG) | |
8 | g.43122337T>A | CA371122069 | POMK | c.513T>A (p.Asn171Lys) c.*309T>A (n.*309T>A) c.231T>A (p.Asn77Lys) c.*433T>A (n.*433T>A) c.471T>A (p.Asn157Lys) c.*298T>A (n.*298T>A) | |
8 | g.43122337T>C | CA460787595 | POMK | c.513T>C (p.Asn171=) c.*309T>C (n.*309T>C) c.231T>C (p.Asn77=) c.*433T>C (n.*433T>C) c.471T>C (p.Asn157=) c.*298T>C (n.*298T>C) | gnomAD v4 |
8 | g.43122337T>G | CA371122070 | POMK | c.513T>G (p.Asn171Lys) c.*309T>G (n.*309T>G) c.231T>G (p.Asn77Lys) c.*433T>G (n.*433T>G) c.471T>G (p.Asn157Lys) c.*298T>G (n.*298T>G) | |
8 | g.43122339_43122340del | CA1779747227 | POMK | c.515_516del (p.Val172GlufsTer18) c.*311_*312del (n.*311_*312del) c.233_234del (p.Val78GlufsTer18) c.*435_*436del (n.*435_*436del) c.473_474del (p.Val158GlufsTer18) c.*300_*301del (n.*300_*301del) | dbSNP |
8 | g.43122338G>A | CA371122071 | POMK | c.514G>A (p.Val172Met) c.*310G>A (n.*310G>A) c.232G>A (p.Val78Met) c.*434G>A (n.*434G>A) c.472G>A (p.Val158Met) c.*299G>A (n.*299G>A) | |
8 | g.43122338G>C | CA371122072 | POMK | c.514G>C (p.Val172Leu) c.*310G>C (n.*310G>C) c.232G>C (p.Val78Leu) c.*434G>C (n.*434G>C) c.472G>C (p.Val158Leu) c.*299G>C (n.*299G>C) | |
8 | g.43122338G>T | CA371122073 | POMK | c.514G>T (p.Val172Leu) c.*310G>T (n.*310G>T) c.232G>T (p.Val78Leu) c.*434G>T (n.*434G>T) c.472G>T (p.Val158Leu) c.*299G>T (n.*299G>T) | |
8 | g.43122339T>A | CA371122076 | POMK | c.515T>A (p.Val172Glu) c.*311T>A (n.*311T>A) c.233T>A (p.Val78Glu) c.*435T>A (n.*435T>A) c.473T>A (p.Val158Glu) c.*300T>A (n.*300T>A) | |
8 | g.43122339T>C | CA371122074 | POMK | c.515T>C (p.Val172Ala) c.*311T>C (n.*311T>C) c.233T>C (p.Val78Ala) c.*435T>C (n.*435T>C) c.473T>C (p.Val158Ala) c.*300T>C (n.*300T>C) | |
8 | g.43122339T>G | CA371122075 | POMK | c.515T>G (p.Val172Gly) c.*311T>G (n.*311T>G) c.233T>G (p.Val78Gly) c.*435T>G (n.*435T>G) c.473T>G (p.Val158Gly) c.*300T>G (n.*300T>G) | |
8 | g.43122340G>A | CA460787600 | POMK | c.516G>A (p.Val172=) c.*312G>A (n.*312G>A) c.234G>A (p.Val78=) c.*436G>A (n.*436G>A) c.474G>A (p.Val158=) c.*301G>A (n.*301G>A) | |
8 | g.43122340G>C | CA460787601 | POMK | c.516G>C (p.Val172=) c.*312G>C (n.*312G>C) c.234G>C (p.Val78=) c.*436G>C (n.*436G>C) c.474G>C (p.Val158=) c.*301G>C (n.*301G>C) | |
8 | g.43122340G>T | CA460787602 | POMK | c.516G>T (p.Val172=) c.*312G>T (n.*312G>T) c.234G>T (p.Val78=) c.*436G>T (n.*436G>T) c.474G>T (p.Val158=) c.*301G>T (n.*301G>T) | |
8 | g.43122341A= | CA1779747230 | POMK | c.517A= (p.Asn173=) c.*313A= (n.*313A=) c.235A= (p.Asn79=) c.*437A= (n.*437A=) c.475A= (p.Asn159=) c.*302A= (n.*302A=) | |
8 | g.43122341A>C | CA371122077 | POMK | c.517A>C (p.Asn173His) c.*313A>C (n.*313A>C) c.235A>C (p.Asn79His) c.*437A>C (n.*437A>C) c.475A>C (p.Asn159His) c.*302A>C (n.*302A>C) | |
8 | g.43122341A>G | CA371122079 | POMK | c.517A>G (p.Asn173Asp) c.*313A>G (n.*313A>G) c.235A>G (p.Asn79Asp) c.*437A>G (n.*437A>G) c.475A>G (p.Asn159Asp) c.*302A>G (n.*302A>G) | |
8 | g.43122341A>T | CA371122078 | POMK | c.517A>T (p.Asn173Tyr) c.*313A>T (n.*313A>T) c.235A>T (p.Asn79Tyr) c.*437A>T (n.*437A>T) c.475A>T (p.Asn159Tyr) c.*302A>T (n.*302A>T) | dbSNP |
8 | g.43122342A>C | CA371122080 | POMK | c.518A>C (p.Asn173Thr) c.*314A>C (n.*314A>C) c.236A>C (p.Asn79Thr) c.*438A>C (n.*438A>C) c.476A>C (p.Asn159Thr) c.*303A>C (n.*303A>C) | |
8 | g.43122342A>G | CA371122081 | POMK | c.518A>G (p.Asn173Ser) c.*314A>G (n.*314A>G) c.236A>G (p.Asn79Ser) c.*438A>G (n.*438A>G) c.476A>G (p.Asn159Ser) c.*303A>G (n.*303A>G) | |
8 | g.43122342A>T | CA371122082 | POMK | c.518A>T (p.Asn173Ile) c.*314A>T (n.*314A>T) c.236A>T (p.Asn79Ile) c.*438A>T (n.*438A>T) c.476A>T (p.Asn159Ile) c.*303A>T (n.*303A>T) | |
8 | g.43122343C>A | CA371122083 | POMK | c.519C>A (p.Asn173Lys) c.*315C>A (n.*315C>A) c.237C>A (p.Asn79Lys) c.*439C>A (n.*439C>A) c.477C>A (p.Asn159Lys) c.*304C>A (n.*304C>A) | |
8 | g.43122343C= | CA1779747233 | POMK | c.519C= (p.Asn173=) c.*315C= (n.*315C=) c.237C= (p.Asn79=) c.*439C= (n.*439C=) c.477C= (p.Asn159=) c.*304C= (n.*304C=) | |
8 | g.43122343C>G | CA371122084 | POMK | c.519C>G (p.Asn173Lys) c.*315C>G (n.*315C>G) c.237C>G (p.Asn79Lys) c.*439C>G (n.*439C>G) c.477C>G (p.Asn159Lys) c.*304C>G (n.*304C>G) | |
8 | g.43122343C>T | CA460787604 | POMK | c.519C>T (p.Asn173=) c.*315C>T (n.*315C>T) c.237C>T (p.Asn79=) c.*439C>T (n.*439C>T) c.477C>T (p.Asn159=) c.*304C>T (n.*304C>T) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122344A= | CA1779747235 | POMK | c.520A= (p.Thr174=) c.*316A= (n.*316A=) c.238A= (p.Thr80=) c.*440A= (n.*440A=) c.478A= (p.Thr160=) c.*305A= (n.*305A=) | |
8 | g.43122344A>C | CA371122085 | POMK | c.520A>C (p.Thr174Pro) c.*316A>C (n.*316A>C) c.238A>C (p.Thr80Pro) c.*440A>C (n.*440A>C) c.478A>C (p.Thr160Pro) c.*305A>C (n.*305A>C) | |
8 | g.43122344A>G | CA4736297 | POMK | c.520A>G (p.Thr174Ala) c.*316A>G (n.*316A>G) c.238A>G (p.Thr80Ala) c.*440A>G (n.*440A>G) c.478A>G (p.Thr160Ala) c.*305A>G (n.*305A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122344A>T | CA371122086 | POMK | c.520A>T (p.Thr174Ser) c.*316A>T (n.*316A>T) c.238A>T (p.Thr80Ser) c.*440A>T (n.*440A>T) c.478A>T (p.Thr160Ser) c.*305A>T (n.*305A>T) | |
8 | g.43122345C>A | CA371122087 | POMK | c.521C>A (p.Thr174Lys) c.*317C>A (n.*317C>A) c.239C>A (p.Thr80Lys) c.*441C>A (n.*441C>A) c.479C>A (p.Thr160Lys) c.*306C>A (n.*306C>A) | |
8 | g.43122345C= | CA1779747237 | POMK | c.521C= (p.Thr174=) c.*317C= (n.*317C=) c.239C= (p.Thr80=) c.*441C= (n.*441C=) c.479C= (p.Thr160=) c.*306C= (n.*306C=) | |
8 | g.43122345C>G | CA371122088 | POMK | c.521C>G (p.Thr174Arg) c.*317C>G (n.*317C>G) c.239C>G (p.Thr80Arg) c.*441C>G (n.*441C>G) c.479C>G (p.Thr160Arg) c.*306C>G (n.*306C>G) | |
8 | g.43122345C>T | CA176079968 | POMK | c.521C>T (p.Thr174Met) c.*317C>T (n.*317C>T) c.239C>T (p.Thr80Met) c.*441C>T (n.*441C>T) c.479C>T (p.Thr160Met) c.*306C>T (n.*306C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122346G>A | CA176079975 | POMK | c.522G>A (p.Thr174=) c.*318G>A (n.*318G>A) c.240G>A (p.Thr80=) c.*442G>A (n.*442G>A) c.480G>A (p.Thr160=) c.*307G>A (n.*307G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122346G>C | CA460787612 | POMK | c.522G>C (p.Thr174=) c.*318G>C (n.*318G>C) c.240G>C (p.Thr80=) c.*442G>C (n.*442G>C) c.480G>C (p.Thr160=) c.*307G>C (n.*307G>C) | gnomAD v4 |
8 | g.43122346G= | CA1779747242 | POMK | c.522G= (p.Thr174=) c.*318G= (n.*318G=) c.240G= (p.Thr80=) c.*442G= (n.*442G=) c.480G= (p.Thr160=) c.*307G= (n.*307G=) | |
8 | g.43122346G>T | CA460787613 | POMK | c.522G>T (p.Thr174=) c.*318G>T (n.*318G>T) c.240G>T (p.Thr80=) c.*442G>T (n.*442G>T) c.480G>T (p.Thr160=) c.*307G>T (n.*307G>T) | |
8 | g.43122347T>A | CA371122091 | POMK | c.523T>A (p.Trp175Arg) c.*319T>A (n.*319T>A) c.241T>A (p.Trp81Arg) c.*443T>A (n.*443T>A) c.481T>A (p.Trp161Arg) c.*308T>A (n.*308T>A) | |
8 | g.43122347T>C | CA371122089 | POMK | c.523T>C (p.Trp175Arg) c.*319T>C (n.*319T>C) c.241T>C (p.Trp81Arg) c.*443T>C (n.*443T>C) c.481T>C (p.Trp161Arg) c.*308T>C (n.*308T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122347T>G | CA371122090 | POMK | c.523T>G (p.Trp175Gly) c.*319T>G (n.*319T>G) c.241T>G (p.Trp81Gly) c.*443T>G (n.*443T>G) c.481T>G (p.Trp161Gly) c.*308T>G (n.*308T>G) | |
8 | g.43122347T= | CA1779747244 | POMK | c.523T= (p.Trp175=) c.*319T= (n.*319T=) c.241T= (p.Trp81=) c.*443T= (n.*443T=) c.481T= (p.Trp161=) c.*308T= (n.*308T=) | |
8 | g.43122348G>A | CA371122092 | POMK | c.524G>A (p.Trp175Ter) c.*320G>A (n.*320G>A) c.242G>A (p.Trp81Ter) c.*444G>A (n.*444G>A) c.482G>A (p.Trp161Ter) c.*309G>A (n.*309G>A) | |
8 | g.43122348G>C | CA371122093 | POMK | c.524G>C (p.Trp175Ser) c.*320G>C (n.*320G>C) c.242G>C (p.Trp81Ser) c.*444G>C (n.*444G>C) c.482G>C (p.Trp161Ser) c.*309G>C (n.*309G>C) | |
8 | g.43122348G>T | CA371122094 | POMK | c.524G>T (p.Trp175Leu) c.*320G>T (n.*320G>T) c.242G>T (p.Trp81Leu) c.*444G>T (n.*444G>T) c.482G>T (p.Trp161Leu) c.*309G>T (n.*309G>T) | |
8 | g.43122349G>A | CA371122095 | POMK | c.525G>A (p.Trp175Ter) c.*321G>A (n.*321G>A) c.243G>A (p.Trp81Ter) c.*445G>A (n.*445G>A) c.483G>A (p.Trp161Ter) c.*310G>A (n.*310G>A) | |
8 | g.43122349G>C | CA371122096 | POMK | c.525G>C (p.Trp175Cys) c.*321G>C (n.*321G>C) c.243G>C (p.Trp81Cys) c.*445G>C (n.*445G>C) c.483G>C (p.Trp161Cys) c.*310G>C (n.*310G>C) | |
8 | g.43122349G>T | CA371122097 | POMK | c.525G>T (p.Trp175Cys) c.*321G>T (n.*321G>T) c.243G>T (p.Trp81Cys) c.*445G>T (n.*445G>T) c.483G>T (p.Trp161Cys) c.*310G>T (n.*310G>T) | |
8 | g.43122350C>A | CA371122098 | POMK | c.526C>A (p.Gln176Lys) c.*322C>A (n.*322C>A) c.244C>A (p.Gln82Lys) c.*446C>A (n.*446C>A) c.484C>A (p.Gln162Lys) c.*311C>A (n.*311C>A) | gnomAD v4 |
8 | g.43122350C>G | CA371122099 | POMK | c.526C>G (p.Gln176Glu) c.*322C>G (n.*322C>G) c.244C>G (p.Gln82Glu) c.*446C>G (n.*446C>G) c.484C>G (p.Gln162Glu) c.*311C>G (n.*311C>G) | |
8 | g.43122350C>T | CA371122100 | POMK | c.526C>T (p.Gln176Ter) c.*322C>T (n.*322C>T) c.244C>T (p.Gln82Ter) c.*446C>T (n.*446C>T) c.484C>T (p.Gln162Ter) c.*311C>T (n.*311C>T) | |
8 | g.43122351A= | CA1779747246 | POMK | c.527A= (p.Gln176=) c.*323A= (n.*323A=) c.245A= (p.Gln82=) c.*447A= (n.*447A=) c.485A= (p.Gln162=) c.*312A= (n.*312A=) | |
8 | g.43122351A>C | CA4736298 | POMK | c.527A>C (p.Gln176Pro) c.*323A>C (n.*323A>C) c.245A>C (p.Gln82Pro) c.*447A>C (n.*447A>C) c.485A>C (p.Gln162Pro) c.*312A>C (n.*312A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122351A>G | CA371122101 | POMK | c.527A>G (p.Gln176Arg) c.*323A>G (n.*323A>G) c.245A>G (p.Gln82Arg) c.*447A>G (n.*447A>G) c.485A>G (p.Gln162Arg) c.*312A>G (n.*312A>G) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122351A>T | CA371122102 | POMK | c.527A>T (p.Gln176Leu) c.*323A>T (n.*323A>T) c.245A>T (p.Gln82Leu) c.*447A>T (n.*447A>T) c.485A>T (p.Gln162Leu) c.*312A>T (n.*312A>T) | |
8 | g.43122352G>A | CA460787619 | POMK | c.528G>A (p.Gln176=) c.*324G>A (n.*324G>A) c.246G>A (p.Gln82=) c.*448G>A (n.*448G>A) c.486G>A (p.Gln162=) c.*313G>A (n.*313G>A) | |
8 | g.43122352G>C | CA371122103 | POMK | c.528G>C (p.Gln176His) c.*324G>C (n.*324G>C) c.246G>C (p.Gln82His) c.*448G>C (n.*448G>C) c.486G>C (p.Gln162His) c.*313G>C (n.*313G>C) | COSMIC |
8 | g.43122352G>T | CA371122104 | POMK | c.528G>T (p.Gln176His) c.*324G>T (n.*324G>T) c.246G>T (p.Gln82His) c.*448G>T (n.*448G>T) c.486G>T (p.Gln162His) c.*313G>T (n.*313G>T) | |
8 | g.43122353C>A | CA371122105 | POMK | c.529C>A (p.His177Asn) c.*325C>A (n.*325C>A) c.247C>A (p.His83Asn) c.*449C>A (n.*449C>A) c.487C>A (p.His163Asn) c.*314C>A (n.*314C>A) | |
8 | g.43122353C>G | CA371122106 | POMK | c.529C>G (p.His177Asp) c.*325C>G (n.*325C>G) c.247C>G (p.His83Asp) c.*449C>G (n.*449C>G) c.487C>G (p.His163Asp) c.*314C>G (n.*314C>G) | |
8 | g.43122353C>T | CA371122107 | POMK | c.529C>T (p.His177Tyr) c.*325C>T (n.*325C>T) c.247C>T (p.His83Tyr) c.*449C>T (n.*449C>T) c.487C>T (p.His163Tyr) c.*314C>T (n.*314C>T) | |
8 | g.43122354A>C | CA371122108 | POMK | c.530A>C (p.His177Pro) c.*326A>C (n.*326A>C) c.248A>C (p.His83Pro) c.*450A>C (n.*450A>C) c.488A>C (p.His163Pro) c.*315A>C (n.*315A>C) | |
8 | g.43122354A>G | CA371122109 | POMK | c.530A>G (p.His177Arg) c.*326A>G (n.*326A>G) c.248A>G (p.His83Arg) c.*450A>G (n.*450A>G) c.488A>G (p.His163Arg) c.*315A>G (n.*315A>G) | |
8 | g.43122354A>T | CA371122110 | POMK | c.530A>T (p.His177Leu) c.*326A>T (n.*326A>T) c.248A>T (p.His83Leu) c.*450A>T (n.*450A>T) c.488A>T (p.His163Leu) c.*315A>T (n.*315A>T) | |
8 | g.43122355C>A | CA371122111 | POMK | c.531C>A (p.His177Gln) c.*327C>A (n.*327C>A) c.249C>A (p.His83Gln) c.*451C>A (n.*451C>A) c.489C>A (p.His163Gln) c.*316C>A (n.*316C>A) | |
8 | g.43122355C>G | CA371122112 | POMK | c.531C>G (p.His177Gln) c.*327C>G (n.*327C>G) c.249C>G (p.His83Gln) c.*451C>G (n.*451C>G) c.489C>G (p.His163Gln) c.*316C>G (n.*316C>G) | |
8 | g.43122355C>T | CA460787620 | POMK | c.531C>T (p.His177=) c.*327C>T (n.*327C>T) c.249C>T (p.His83=) c.*451C>T (n.*451C>T) c.489C>T (p.His163=) c.*316C>T (n.*316C>T) | |
8 | g.43122356A>C | CA460787621 | POMK | c.532A>C (p.Arg178=) c.*328A>C (n.*328A>C) c.250A>C (p.Arg84=) c.*452A>C (n.*452A>C) c.490A>C (p.Arg164=) c.*317A>C (n.*317A>C) | |
8 | g.43122356A>G | CA371122113 | POMK | c.532A>G (p.Arg178Gly) c.*328A>G (n.*328A>G) c.250A>G (p.Arg84Gly) c.*452A>G (n.*452A>G) c.490A>G (p.Arg164Gly) c.*317A>G (n.*317A>G) | COSMIC COSMIC |
8 | g.43122356A>T | CA371122114 | POMK | c.532A>T (p.Arg178Trp) c.*328A>T (n.*328A>T) c.250A>T (p.Arg84Trp) c.*452A>T (n.*452A>T) c.490A>T (p.Arg164Trp) c.*317A>T (n.*317A>T) | |
8 | g.43122357G>A | CA371122115 | POMK | c.533G>A (p.Arg178Lys) c.*329G>A (n.*329G>A) c.251G>A (p.Arg84Lys) c.*453G>A (n.*453G>A) c.491G>A (p.Arg164Lys) c.*318G>A (n.*318G>A) | |
8 | g.43122357G>C | CA371122116 | POMK | c.533G>C (p.Arg178Thr) c.*329G>C (n.*329G>C) c.251G>C (p.Arg84Thr) c.*453G>C (n.*453G>C) c.491G>C (p.Arg164Thr) c.*318G>C (n.*318G>C) | |
8 | g.43122357G>T | CA371122117 | POMK | c.533G>T (p.Arg178Met) c.*329G>T (n.*329G>T) c.251G>T (p.Arg84Met) c.*453G>T (n.*453G>T) c.491G>T (p.Arg164Met) c.*318G>T (n.*318G>T) | COSMIC COSMIC |
8 | g.43122358G>A | CA460787626 | POMK | c.534G>A (p.Arg178=) c.*330G>A (n.*330G>A) c.252G>A (p.Arg84=) c.*454G>A (n.*454G>A) c.492G>A (p.Arg164=) c.*319G>A (n.*319G>A) | |
8 | g.43122358G>C | CA371122119 | POMK | c.534G>C (p.Arg178Ser) c.*330G>C (n.*330G>C) c.252G>C (p.Arg84Ser) c.*454G>C (n.*454G>C) c.492G>C (p.Arg164Ser) c.*319G>C (n.*319G>C) | |
8 | g.43122358G>T | CA371122118 | POMK | c.534G>T (p.Arg178Ser) c.*330G>T (n.*330G>T) c.252G>T (p.Arg84Ser) c.*454G>T (n.*454G>T) c.492G>T (p.Arg164Ser) c.*319G>T (n.*319G>T) | |
8 | g.43122359C>A | CA371122120 | POMK | c.535C>A (p.Leu179Met) c.*331C>A (n.*331C>A) c.253C>A (p.Leu85Met) c.*455C>A (n.*455C>A) c.493C>A (p.Leu165Met) c.*320C>A (n.*320C>A) | |
8 | g.43122359C>G | CA371122121 | POMK | c.535C>G (p.Leu179Val) c.*331C>G (n.*331C>G) c.253C>G (p.Leu85Val) c.*455C>G (n.*455C>G) c.493C>G (p.Leu165Val) c.*320C>G (n.*320C>G) | |
8 | g.43122359C>T | CA460787630 | POMK | c.535C>T (p.Leu179=) c.*331C>T (n.*331C>T) c.253C>T (p.Leu85=) c.*455C>T (n.*455C>T) c.493C>T (p.Leu165=) c.*320C>T (n.*320C>T) | |
8 | g.43122360T>A | CA371122122 | POMK | c.536T>A (p.Leu179Gln) c.*332T>A (n.*332T>A) c.254T>A (p.Leu85Gln) c.*456T>A (n.*456T>A) c.494T>A (p.Leu165Gln) c.*321T>A (n.*321T>A) | |
8 | g.43122360T>C | CA371122123 | POMK | c.536T>C (p.Leu179Pro) c.*332T>C (n.*332T>C) c.254T>C (p.Leu85Pro) c.*456T>C (n.*456T>C) c.494T>C (p.Leu165Pro) c.*321T>C (n.*321T>C) | |
8 | g.43122360T>G | CA371122124 | POMK | c.536T>G (p.Leu179Arg) c.*332T>G (n.*332T>G) c.254T>G (p.Leu85Arg) c.*456T>G (n.*456T>G) c.494T>G (p.Leu165Arg) c.*321T>G (n.*321T>G) | |
8 | g.43122361G>A | CA460787633 | POMK | c.537G>A (p.Leu179=) c.*333G>A (n.*333G>A) c.255G>A (p.Leu85=) c.*457G>A (n.*457G>A) c.495G>A (p.Leu165=) c.*322G>A (n.*322G>A) | |
8 | g.43122361G>C | CA460787635 | POMK | c.537G>C (p.Leu179=) c.*333G>C (n.*333G>C) c.255G>C (p.Leu85=) c.*457G>C (n.*457G>C) c.495G>C (p.Leu165=) c.*322G>C (n.*322G>C) | |
8 | g.43122361G>T | CA460787634 | POMK | c.537G>T (p.Leu179=) c.*333G>T (n.*333G>T) c.255G>T (p.Leu85=) c.*457G>T (n.*457G>T) c.495G>T (p.Leu165=) c.*322G>T (n.*322G>T) | |
8 | g.43122362G>A | CA371122125 | POMK | c.538G>A (p.Glu180Lys) c.*334G>A (n.*334G>A) c.256G>A (p.Glu86Lys) c.*458G>A (n.*458G>A) c.496G>A (p.Glu166Lys) c.*323G>A (n.*323G>A) | |
8 | g.43122362G>C | CA371122126 | POMK | c.538G>C (p.Glu180Gln) c.*334G>C (n.*334G>C) c.256G>C (p.Glu86Gln) c.*458G>C (n.*458G>C) c.496G>C (p.Glu166Gln) c.*323G>C (n.*323G>C) | gnomAD v4 |
8 | g.43122362G>T | CA371122127 | POMK | c.538G>T (p.Glu180Ter) c.*334G>T (n.*334G>T) c.256G>T (p.Glu86Ter) c.*458G>T (n.*458G>T) c.496G>T (p.Glu166Ter) c.*323G>T (n.*323G>T) | |
8 | g.43122363A>C | CA371122128 | POMK | c.539A>C (p.Glu180Ala) c.*335A>C (n.*335A>C) c.257A>C (p.Glu86Ala) c.*459A>C (n.*459A>C) c.497A>C (p.Glu166Ala) c.*324A>C (n.*324A>C) | |
8 | g.43122363A>G | CA371122129 | POMK | c.539A>G (p.Glu180Gly) c.*335A>G (n.*335A>G) c.257A>G (p.Glu86Gly) c.*459A>G (n.*459A>G) c.497A>G (p.Glu166Gly) c.*324A>G (n.*324A>G) | |
8 | g.43122363A>T | CA371122130 | POMK | c.539A>T (p.Glu180Val) c.*335A>T (n.*335A>T) c.257A>T (p.Glu86Val) c.*459A>T (n.*459A>T) c.497A>T (p.Glu166Val) c.*324A>T (n.*324A>T) | |
8 | g.43122364G>A | CA460787196 | POMK | c.540G>A (p.Glu180=) c.*336G>A (n.*336G>A) c.258G>A (p.Glu86=) c.*460G>A (n.*460G>A) c.498G>A (p.Glu166=) c.*325G>A (n.*325G>A) | |
8 | g.43122364G>C | CA371122131 | POMK | c.540G>C (p.Glu180Asp) c.*336G>C (n.*336G>C) c.258G>C (p.Glu86Asp) c.*460G>C (n.*460G>C) c.498G>C (p.Glu166Asp) c.*325G>C (n.*325G>C) | |
8 | g.43122364G>T | CA371122132 | POMK | c.540G>T (p.Glu180Asp) c.*336G>T (n.*336G>T) c.258G>T (p.Glu86Asp) c.*460G>T (n.*460G>T) c.498G>T (p.Glu166Asp) c.*325G>T (n.*325G>T) | |
8 | g.43122365C>A | CA371122133 | POMK | c.541C>A (p.Leu181Met) c.*337C>A (n.*337C>A) c.259C>A (p.Leu87Met) c.*461C>A (n.*461C>A) c.499C>A (p.Leu167Met) c.*326C>A (n.*326C>A) | |
8 | g.43122365C= | CA1779747252 | POMK | c.541C= (p.Leu181=) c.*337C= (n.*337C=) c.259C= (p.Leu87=) c.*461C= (n.*461C=) c.499C= (p.Leu167=) c.*326C= (n.*326C=) | |
8 | g.43122365C>G | CA371122134 | POMK | c.541C>G (p.Leu181Val) c.*337C>G (n.*337C>G) c.259C>G (p.Leu87Val) c.*461C>G (n.*461C>G) c.499C>G (p.Leu167Val) c.*326C>G (n.*326C>G) | gnomAD v4 |
8 | g.43122365C>T | CA4736299 | POMK | c.541C>T (p.Leu181=) c.*337C>T (n.*337C>T) c.259C>T (p.Leu87=) c.*461C>T (n.*461C>T) c.499C>T (p.Leu167=) c.*326C>T (n.*326C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122366T>A | CA371122135 | POMK | c.542T>A (p.Leu181Gln) c.*338T>A (n.*338T>A) c.260T>A (p.Leu87Gln) c.*462T>A (n.*462T>A) c.500T>A (p.Leu167Gln) c.*327T>A (n.*327T>A) | |
8 | g.43122366T>C | CA371122137 | POMK | c.542T>C (p.Leu181Pro) c.*338T>C (n.*338T>C) c.260T>C (p.Leu87Pro) c.*462T>C (n.*462T>C) c.500T>C (p.Leu167Pro) c.*327T>C (n.*327T>C) | |
8 | g.43122366T>G | CA371122136 | POMK | c.542T>G (p.Leu181Arg) c.*338T>G (n.*338T>G) c.260T>G (p.Leu87Arg) c.*462T>G (n.*462T>G) c.500T>G (p.Leu167Arg) c.*327T>G (n.*327T>G) | |
8 | g.43122367G>A | CA460787197 | POMK | c.543G>A (p.Leu181=) c.*339G>A (n.*339G>A) c.261G>A (p.Leu87=) c.*463G>A (n.*463G>A) c.501G>A (p.Leu167=) c.*328G>A (n.*328G>A) | |
8 | g.43122367G>C | CA460787198 | POMK | c.543G>C (p.Leu181=) c.*339G>C (n.*339G>C) c.261G>C (p.Leu87=) c.*463G>C (n.*463G>C) c.501G>C (p.Leu167=) c.*328G>C (n.*328G>C) | |
8 | g.43122367G>T | CA460787199 | POMK | c.543G>T (p.Leu181=) c.*339G>T (n.*339G>T) c.261G>T (p.Leu87=) c.*463G>T (n.*463G>T) c.501G>T (p.Leu167=) c.*328G>T (n.*328G>T) | |
8 | g.43122368G>A | CA371122138 | POMK | c.544G>A (p.Ala182Thr) c.*340G>A (n.*340G>A) c.262G>A (p.Ala88Thr) c.*464G>A (n.*464G>A) c.502G>A (p.Ala168Thr) c.*329G>A (n.*329G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.43122368G>C | CA371122139 | POMK | c.544G>C (p.Ala182Pro) c.*340G>C (n.*340G>C) c.262G>C (p.Ala88Pro) c.*464G>C (n.*464G>C) c.502G>C (p.Ala168Pro) c.*329G>C (n.*329G>C) | |
8 | g.43122368G= | CA1779747255 | POMK | c.544G= (p.Ala182=) c.*340G= (n.*340G=) c.262G= (p.Ala88=) c.*464G= (n.*464G=) c.502G= (p.Ala168=) c.*329G= (n.*329G=) | |
8 | g.43122368G>T | CA371122140 | POMK | c.544G>T (p.Ala182Ser) c.*340G>T (n.*340G>T) c.262G>T (p.Ala88Ser) c.*464G>T (n.*464G>T) c.502G>T (p.Ala168Ser) c.*329G>T (n.*329G>T) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122369C>A | CA371122141 | POMK | c.545C>A (p.Ala182Asp) c.*341C>A (n.*341C>A) c.263C>A (p.Ala88Asp) c.*465C>A (n.*465C>A) c.503C>A (p.Ala168Asp) c.*330C>A (n.*330C>A) | |
8 | g.43122369C= | CA1779747259 | POMK | c.545C= (p.Ala182=) c.*341C= (n.*341C=) c.263C= (p.Ala88=) c.*465C= (n.*465C=) c.503C= (p.Ala168=) c.*330C= (n.*330C=) | |
8 | g.43122369C>G | CA371122142 | POMK | c.545C>G (p.Ala182Gly) c.*341C>G (n.*341C>G) c.263C>G (p.Ala88Gly) c.*465C>G (n.*465C>G) c.503C>G (p.Ala168Gly) c.*330C>G (n.*330C>G) | |
8 | g.43122369C>T | CA371122143 | POMK | c.545C>T (p.Ala182Val) c.*341C>T (n.*341C>T) c.263C>T (p.Ala88Val) c.*465C>T (n.*465C>T) c.503C>T (p.Ala168Val) c.*330C>T (n.*330C>T) | ClinVar dbSNP gnomAD v4 |
8 | g.43122370C>A | CA460787200 | POMK | c.546C>A (p.Ala182=) c.*342C>A (n.*342C>A) c.264C>A (p.Ala88=) c.*466C>A (n.*466C>A) c.504C>A (p.Ala168=) c.*331C>A (n.*331C>A) | |
8 | g.43122370C>G | CA460787201 | POMK | c.546C>G (p.Ala182=) c.*342C>G (n.*342C>G) c.264C>G (p.Ala88=) c.*466C>G (n.*466C>G) c.504C>G (p.Ala168=) c.*331C>G (n.*331C>G) | |
8 | g.43122370C>T | CA460787202 | POMK | c.546C>T (p.Ala182=) c.*342C>T (n.*342C>T) c.264C>T (p.Ala88=) c.*466C>T (n.*466C>T) c.504C>T (p.Ala168=) c.*331C>T (n.*331C>T) | |
8 | g.43122371A= | CA1779747260 | POMK | c.547A= (p.Met183=) c.*343A= (n.*343A=) c.265A= (p.Met89=) c.*467A= (n.*467A=) c.505A= (p.Met169=) c.*332A= (n.*332A=) | |
8 | g.43122371A>C | CA371122146 | POMK | c.547A>C (p.Met183Leu) c.*343A>C (n.*343A>C) c.265A>C (p.Met89Leu) c.*467A>C (n.*467A>C) c.505A>C (p.Met169Leu) c.*332A>C (n.*332A>C) | |
8 | g.43122371A>G | CA371122145 | POMK | c.547A>G (p.Met183Val) c.*343A>G (n.*343A>G) c.265A>G (p.Met89Val) c.*467A>G (n.*467A>G) c.505A>G (p.Met169Val) c.*332A>G (n.*332A>G) | dbSNP gnomAD v4 |
8 | g.43122371A>T | CA371122144 | POMK | c.547A>T (p.Met183Leu) c.*343A>T (n.*343A>T) c.265A>T (p.Met89Leu) c.*467A>T (n.*467A>T) c.505A>T (p.Met169Leu) c.*332A>T (n.*332A>T) | |
8 | g.43122372T>A | CA371122147 | POMK | c.548T>A (p.Met183Lys) c.*344T>A (n.*344T>A) c.266T>A (p.Met89Lys) c.*468T>A (n.*468T>A) c.506T>A (p.Met169Lys) c.*333T>A (n.*333T>A) | |
8 | g.43122372T>C | CA4736300 | POMK | c.548T>C (p.Met183Thr) c.*344T>C (n.*344T>C) c.266T>C (p.Met89Thr) c.*468T>C (n.*468T>C) c.506T>C (p.Met169Thr) c.*333T>C (n.*333T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122372T>G | CA371122148 | POMK | c.548T>G (p.Met183Arg) c.*344T>G (n.*344T>G) c.266T>G (p.Met89Arg) c.*468T>G (n.*468T>G) c.506T>G (p.Met169Arg) c.*333T>G (n.*333T>G) | |
8 | g.43122372T= | CA1779747262 | POMK | c.548T= (p.Met183=) c.*344T= (n.*344T=) c.266T= (p.Met89=) c.*468T= (n.*468T=) c.506T= (p.Met169=) c.*333T= (n.*333T=) | |
8 | g.43122373G>A | CA371122149 | POMK | c.549G>A (p.Met183Ile) c.*345G>A (n.*345G>A) c.267G>A (p.Met89Ile) c.*469G>A (n.*469G>A) c.507G>A (p.Met169Ile) c.*334G>A (n.*334G>A) | |
8 | g.43122373G>C | CA371122150 | POMK | c.549G>C (p.Met183Ile) c.*345G>C (n.*345G>C) c.267G>C (p.Met89Ile) c.*469G>C (n.*469G>C) c.507G>C (p.Met169Ile) c.*334G>C (n.*334G>C) | |
8 | g.43122373G= | CA1779747266 | POMK | c.549G= (p.Met183=) c.*345G= (n.*345G=) c.267G= (p.Met89=) c.*469G= (n.*469G=) c.507G= (p.Met169=) c.*334G= (n.*334G=) | |
8 | g.43122373G>T | CA371122151 | POMK | c.549G>T (p.Met183Ile) c.*345G>T (n.*345G>T) c.267G>T (p.Met89Ile) c.*469G>T (n.*469G>T) c.507G>T (p.Met169Ile) c.*334G>T (n.*334G>T) | dbSNP gnomAD v4 |
8 | g.43122374G>A | CA371122152 | POMK | c.550G>A (p.Asp184Asn) c.*346G>A (n.*346G>A) c.268G>A (p.Asp90Asn) c.*470G>A (n.*470G>A) c.508G>A (p.Asp170Asn) c.*335G>A (n.*335G>A) | |
8 | g.43122374G>C | CA371122154 | POMK | c.550G>C (p.Asp184His) c.*346G>C (n.*346G>C) c.268G>C (p.Asp90His) c.*470G>C (n.*470G>C) c.508G>C (p.Asp170His) c.*335G>C (n.*335G>C) | |
8 | g.43122374G>T | CA371122153 | POMK | c.550G>T (p.Asp184Tyr) c.*346G>T (n.*346G>T) c.268G>T (p.Asp90Tyr) c.*470G>T (n.*470G>T) c.508G>T (p.Asp170Tyr) c.*335G>T (n.*335G>T) | |
8 | g.43122375A>C | CA371122155 | POMK | c.551A>C (p.Asp184Ala) c.*347A>C (n.*347A>C) c.269A>C (p.Asp90Ala) c.*471A>C (n.*471A>C) c.509A>C (p.Asp170Ala) c.*336A>C (n.*336A>C) | |
8 | g.43122375A>G | CA371122156 | POMK | c.551A>G (p.Asp184Gly) c.*347A>G (n.*347A>G) c.269A>G (p.Asp90Gly) c.*471A>G (n.*471A>G) c.509A>G (p.Asp170Gly) c.*336A>G (n.*336A>G) | ClinVar |
8 | g.43122375A>T | CA371122157 | POMK | c.551A>T (p.Asp184Val) c.*347A>T (n.*347A>T) c.269A>T (p.Asp90Val) c.*471A>T (n.*471A>T) c.509A>T (p.Asp170Val) c.*336A>T (n.*336A>T) | |
8 | g.43122376C>A | CA371122158 | POMK | c.552C>A (p.Asp184Glu) c.*348C>A (n.*348C>A) c.270C>A (p.Asp90Glu) c.*472C>A (n.*472C>A) c.510C>A (p.Asp170Glu) c.*337C>A (n.*337C>A) | |
8 | g.43122376C= | CA1779747269 | POMK | c.552C= (p.Asp184=) c.*348C= (n.*348C=) c.270C= (p.Asp90=) c.*472C= (n.*472C=) c.510C= (p.Asp170=) c.*337C= (n.*337C=) | |
8 | g.43122376C>G | CA371122159 | POMK | c.552C>G (p.Asp184Glu) c.*348C>G (n.*348C>G) c.270C>G (p.Asp90Glu) c.*472C>G (n.*472C>G) c.510C>G (p.Asp170Glu) c.*337C>G (n.*337C>G) | dbSNP |
8 | g.43122376C>T | CA460787203 | POMK | c.552C>T (p.Asp184=) c.*348C>T (n.*348C>T) c.270C>T (p.Asp90=) c.*472C>T (n.*472C>T) c.510C>T (p.Asp170=) c.*337C>T (n.*337C>T) | |
8 | g.43122376_43122378delinsCTA | CA1779747268 | POMK | c.552_554delinsCTA (p.Asp184=) c.*348_*350delinsCTA (n.*348_*350delinsCTA) c.270_272delinsCTA (p.Asp90=) c.*472_*474delinsCTA (n.*472_*474delinsCTA) c.510_512delinsCTA (p.Asp170=) c.*337_*339delinsCTA (n.*337_*339delinsCTA) | |
8 | g.43122377T>A | CA371122160 | POMK | c.553T>A (p.Tyr185Asn) c.*349T>A (n.*349T>A) c.271T>A (p.Tyr91Asn) c.*473T>A (n.*473T>A) c.511T>A (p.Tyr171Asn) c.*338T>A (n.*338T>A) | |
8 | g.43122377T>C | CA176080001 | POMK | c.553T>C (p.Tyr185His) c.*349T>C (n.*349T>C) c.271T>C (p.Tyr91His) c.*473T>C (n.*473T>C) c.511T>C (p.Tyr171His) c.*338T>C (n.*338T>C) | ClinVar dbSNP gnomAD v4 |
8 | g.43122377T>G | CA371122161 | POMK | c.553T>G (p.Tyr185Asp) c.*349T>G (n.*349T>G) c.271T>G (p.Tyr91Asp) c.*473T>G (n.*473T>G) c.511T>G (p.Tyr171Asp) c.*338T>G (n.*338T>G) | |
8 | g.43122377T= | CA1779747274 | POMK | c.553T= (p.Tyr185=) c.*349T= (n.*349T=) c.271T= (p.Tyr91=) c.*473T= (n.*473T=) c.511T= (p.Tyr171=) c.*338T= (n.*338T=) | |
8 | g.43122378_43122379del | CA851957062 | POMK | c.554_555del (p.Tyr185CysfsTer5) c.*350_*351del (n.*350_*351del) c.272_273del (p.Tyr91CysfsTer5) c.*474_*475del (n.*474_*475del) c.512_513del (p.Tyr171CysfsTer5) c.*339_*340del (n.*339_*340del) | dbSNP |
8 | g.43122378A= | CA1779747278 | POMK | c.554A= (p.Tyr185=) c.*350A= (n.*350A=) c.272A= (p.Tyr91=) c.*474A= (n.*474A=) c.512A= (p.Tyr171=) c.*339A= (n.*339A=) | |
8 | g.43122378A>C | CA371122162 | POMK | c.554A>C (p.Tyr185Ser) c.*350A>C (n.*350A>C) c.272A>C (p.Tyr91Ser) c.*474A>C (n.*474A>C) c.512A>C (p.Tyr171Ser) c.*339A>C (n.*339A>C) | dbSNP |
8 | g.43122378A>G | CA371122163 | POMK | c.554A>G (p.Tyr185Cys) c.*350A>G (n.*350A>G) c.272A>G (p.Tyr91Cys) c.*474A>G (n.*474A>G) c.512A>G (p.Tyr171Cys) c.*339A>G (n.*339A>G) | dbSNP gnomAD v4 |
8 | g.43122378A>T | CA371122164 | POMK | c.554A>T (p.Tyr185Phe) c.*350A>T (n.*350A>T) c.272A>T (p.Tyr91Phe) c.*474A>T (n.*474A>T) c.512A>T (p.Tyr171Phe) c.*339A>T (n.*339A>T) | |
8 | g.43122379T>A | CA371122165 | POMK | c.555T>A (p.Tyr185Ter) c.*351T>A (n.*351T>A) c.273T>A (p.Tyr91Ter) c.*475T>A (n.*475T>A) c.513T>A (p.Tyr171Ter) c.*340T>A (n.*340T>A) | |
8 | g.43122379T>C | CA4736301 | POMK | c.555T>C (p.Tyr185=) c.*351T>C (n.*351T>C) c.273T>C (p.Tyr91=) c.*475T>C (n.*475T>C) c.513T>C (p.Tyr171=) c.*340T>C (n.*340T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.43122379T>G | CA371122166 | POMK | c.555T>G (p.Tyr185Ter) c.*351T>G (n.*351T>G) c.273T>G (p.Tyr91Ter) c.*475T>G (n.*475T>G) c.513T>G (p.Tyr171Ter) c.*340T>G (n.*340T>G) | |
8 | g.43122379T= | CA1779747281 | POMK | c.555T= (p.Tyr185=) c.*351T= (n.*351T=) c.273T= (p.Tyr91=) c.*475T= (n.*475T=) c.513T= (p.Tyr171=) c.*340T= (n.*340T=) | |
8 | g.43122380G>A | CA371122167 | POMK | c.556G>A (p.Val186Ile) c.*352G>A (n.*352G>A) c.274G>A (p.Val92Ile) c.*476G>A (n.*476G>A) c.514G>A (p.Val172Ile) c.*341G>A (n.*341G>A) | |
8 | g.43122380G>C | CA371122168 | POMK | c.556G>C (p.Val186Leu) c.*352G>C (n.*352G>C) c.274G>C (p.Val92Leu) c.*476G>C (n.*476G>C) c.514G>C (p.Val172Leu) c.*341G>C (n.*341G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122380G= | CA1779747283 | POMK | c.556G= (p.Val186=) c.*352G= (n.*352G=) c.274G= (p.Val92=) c.*476G= (n.*476G=) c.514G= (p.Val172=) c.*341G= (n.*341G=) | |
8 | g.43122380G>T | CA371122169 | POMK | c.556G>T (p.Val186Phe) c.*352G>T (n.*352G>T) c.274G>T (p.Val92Phe) c.*476G>T (n.*476G>T) c.514G>T (p.Val172Phe) c.*341G>T (n.*341G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122381T>A | CA371122170 | POMK | c.557T>A (p.Val186Asp) c.*353T>A (n.*353T>A) c.275T>A (p.Val92Asp) c.*477T>A (n.*477T>A) c.515T>A (p.Val172Asp) c.*342T>A (n.*342T>A) | |
8 | g.43122381T>C | CA371122171 | POMK | c.557T>C (p.Val186Ala) c.*353T>C (n.*353T>C) c.275T>C (p.Val92Ala) c.*477T>C (n.*477T>C) c.515T>C (p.Val172Ala) c.*342T>C (n.*342T>C) | |
8 | g.43122381T>G | CA371122172 | POMK | c.557T>G (p.Val186Gly) c.*353T>G (n.*353T>G) c.275T>G (p.Val92Gly) c.*477T>G (n.*477T>G) c.515T>G (p.Val172Gly) c.*342T>G (n.*342T>G) | |
8 | g.43122382C>A | CA460787204 | POMK | c.558C>A (p.Val186=) c.*354C>A (n.*354C>A) c.276C>A (p.Val92=) c.*478C>A (n.*478C>A) c.516C>A (p.Val172=) c.*343C>A (n.*343C>A) | |
8 | g.43122382C= | CA1779747285 | POMK | c.558C= (p.Val186=) c.*354C= (n.*354C=) c.276C= (p.Val92=) c.*478C= (n.*478C=) c.516C= (p.Val172=) c.*343C= (n.*343C=) | |
8 | g.43122382C>G | CA460787206 | POMK | c.558C>G (p.Val186=) c.*354C>G (n.*354C>G) c.276C>G (p.Val92=) c.*478C>G (n.*478C>G) c.516C>G (p.Val172=) c.*343C>G (n.*343C>G) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122382C>T | CA460787205 | POMK | c.558C>T (p.Val186=) c.*354C>T (n.*354C>T) c.276C>T (p.Val92=) c.*478C>T (n.*478C>T) c.516C>T (p.Val172=) c.*343C>T (n.*343C>T) | gnomAD v4 |
8 | g.43122383A= | CA1779747293 | POMK | c.559A= (p.Ser187=) c.*355A= (n.*355A=) c.277A= (p.Ser93=) c.*479A= (n.*479A=) c.517A= (p.Ser173=) c.*344A= (n.*344A=) | |
8 | g.43122383A>C | CA371122173 | POMK | c.559A>C (p.Ser187Arg) c.*355A>C (n.*355A>C) c.277A>C (p.Ser93Arg) c.*479A>C (n.*479A>C) c.517A>C (p.Ser173Arg) c.*344A>C (n.*344A>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.43122383A>G | CA176080023 | POMK | c.559A>G (p.Ser187Gly) c.*355A>G (n.*355A>G) c.277A>G (p.Ser93Gly) c.*479A>G (n.*479A>G) c.517A>G (p.Ser173Gly) c.*344A>G (n.*344A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122383A>T | CA371122174 | POMK | c.559A>T (p.Ser187Cys) c.*355A>T (n.*355A>T) c.277A>T (p.Ser93Cys) c.*479A>T (n.*479A>T) c.517A>T (p.Ser173Cys) c.*344A>T (n.*344A>T) | |
8 | g.43122384G>A | CA371122175 | POMK | c.560G>A (p.Ser187Asn) c.*356G>A (n.*356G>A) c.278G>A (p.Ser93Asn) c.*480G>A (n.*480G>A) c.518G>A (p.Ser173Asn) c.*345G>A (n.*345G>A) | |
8 | g.43122384G>C | CA371122176 | POMK | c.560G>C (p.Ser187Thr) c.*356G>C (n.*356G>C) c.278G>C (p.Ser93Thr) c.*480G>C (n.*480G>C) c.518G>C (p.Ser173Thr) c.*345G>C (n.*345G>C) | |
8 | g.43122384G>T | CA371122177 | POMK | c.560G>T (p.Ser187Ile) c.*356G>T (n.*356G>T) c.278G>T (p.Ser93Ile) c.*480G>T (n.*480G>T) c.518G>T (p.Ser173Ile) c.*345G>T (n.*345G>T) | |
8 | g.43122385C>A | CA371122179 | POMK | c.561C>A (p.Ser187Arg) c.*357C>A (n.*357C>A) c.279C>A (p.Ser93Arg) c.*481C>A (n.*481C>A) c.519C>A (p.Ser173Arg) c.*346C>A (n.*346C>A) | |
8 | g.43122385C>G | CA371122178 | POMK | c.561C>G (p.Ser187Arg) c.*357C>G (n.*357C>G) c.279C>G (p.Ser93Arg) c.*481C>G (n.*481C>G) c.519C>G (p.Ser173Arg) c.*346C>G (n.*346C>G) | |
8 | g.43122385C>T | CA460787207 | POMK | c.561C>T (p.Ser187=) c.*357C>T (n.*357C>T) c.279C>T (p.Ser93=) c.*481C>T (n.*481C>T) c.519C>T (p.Ser173=) c.*346C>T (n.*346C>T) | |
8 | g.43122386A>C | CA371122180 | POMK | c.562A>C (p.Ile188Leu) c.*358A>C (n.*358A>C) c.280A>C (p.Ile94Leu) c.*482A>C (n.*482A>C) c.520A>C (p.Ile174Leu) c.*347A>C (n.*347A>C) | |
8 | g.43122386A>G | CA371122181 | POMK | c.562A>G (p.Ile188Val) c.*358A>G (n.*358A>G) c.280A>G (p.Ile94Val) c.*482A>G (n.*482A>G) c.520A>G (p.Ile174Val) c.*347A>G (n.*347A>G) | |
8 | g.43122386A>T | CA371122182 | POMK | c.562A>T (p.Ile188Phe) c.*358A>T (n.*358A>T) c.280A>T (p.Ile94Phe) c.*482A>T (n.*482A>T) c.520A>T (p.Ile174Phe) c.*347A>T (n.*347A>T) | |
8 | g.43122387T>A | CA371122183 | POMK | c.563T>A (p.Ile188Asn) c.*359T>A (n.*359T>A) c.281T>A (p.Ile94Asn) c.*483T>A (n.*483T>A) c.521T>A (p.Ile174Asn) c.*348T>A (n.*348T>A) | |
8 | g.43122387T>C | CA371122184 | POMK | c.563T>C (p.Ile188Thr) c.*359T>C (n.*359T>C) c.281T>C (p.Ile94Thr) c.*483T>C (n.*483T>C) c.521T>C (p.Ile174Thr) c.*348T>C (n.*348T>C) | |
8 | g.43122387T>G | CA371122185 | POMK | c.563T>G (p.Ile188Ser) c.*359T>G (n.*359T>G) c.281T>G (p.Ile94Ser) c.*483T>G (n.*483T>G) c.521T>G (p.Ile174Ser) c.*348T>G (n.*348T>G) | |
8 | g.43122388C>A | CA460787208 | POMK | c.564C>A (p.Ile188=) c.*360C>A (n.*360C>A) c.282C>A (p.Ile94=) c.*484C>A (n.*484C>A) c.522C>A (p.Ile174=) c.*349C>A (n.*349C>A) | |
8 | g.43122388C= | CA1779747298 | POMK | c.564C= (p.Ile188=) c.*360C= (n.*360C=) c.282C= (p.Ile94=) c.*484C= (n.*484C=) c.522C= (p.Ile174=) c.*349C= (n.*349C=) | |
8 | g.43122388C>G | CA371122186 | POMK | c.564C>G (p.Ile188Met) c.*360C>G (n.*360C>G) c.282C>G (p.Ile94Met) c.*484C>G (n.*484C>G) c.522C>G (p.Ile174Met) c.*349C>G (n.*349C>G) | |
8 | g.43122388C>T | CA4736302 | POMK | c.564C>T (p.Ile188=) c.*360C>T (n.*360C>T) c.282C>T (p.Ile94=) c.*484C>T (n.*484C>T) c.522C>T (p.Ile174=) c.*349C>T (n.*349C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122389A= | CA1779747306 | POMK | c.565A= (p.Ile189=) c.*361A= (n.*361A=) c.283A= (p.Ile95=) c.*485A= (n.*485A=) c.523A= (p.Ile175=) c.*350A= (n.*350A=) | |
8 | g.43122389A>C | CA371122187 | POMK | c.565A>C (p.Ile189Leu) c.*361A>C (n.*361A>C) c.283A>C (p.Ile95Leu) c.*485A>C (n.*485A>C) c.523A>C (p.Ile175Leu) c.*350A>C (n.*350A>C) | |
8 | g.43122389A>G | CA4736303 | POMK | c.565A>G (p.Ile189Val) c.*361A>G (n.*361A>G) c.283A>G (p.Ile95Val) c.*485A>G (n.*485A>G) c.523A>G (p.Ile175Val) c.*350A>G (n.*350A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122389A>T | CA4736304 | POMK | c.565A>T (p.Ile189Phe) c.*361A>T (n.*361A>T) c.283A>T (p.Ile95Phe) c.*485A>T (n.*485A>T) c.523A>T (p.Ile175Phe) c.*350A>T (n.*350A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.43122390T>A | CA371122190 | POMK | c.566T>A (p.Ile189Asn) c.*362T>A (n.*362T>A) c.284T>A (p.Ile95Asn) c.*486T>A (n.*486T>A) c.524T>A (p.Ile175Asn) c.*351T>A (n.*351T>A) | |
8 | g.43122390T>C | CA371122189 | POMK | c.566T>C (p.Ile189Thr) c.*362T>C (n.*362T>C) c.284T>C (p.Ile95Thr) c.*486T>C (n.*486T>C) c.524T>C (p.Ile175Thr) c.*351T>C (n.*351T>C) | |
8 | g.43122390T>G | CA371122188 | POMK | c.566T>G (p.Ile189Ser) c.*362T>G (n.*362T>G) c.284T>G (p.Ile95Ser) c.*486T>G (n.*486T>G) c.524T>G (p.Ile175Ser) c.*351T>G (n.*351T>G) | gnomAD v4 |
8 | g.43122391T>A | CA460787210 | POMK | c.567T>A (p.Ile189=) c.*363T>A (n.*363T>A) c.285T>A (p.Ile95=) c.*487T>A (n.*487T>A) c.525T>A (p.Ile175=) c.*352T>A (n.*352T>A) | |
8 | g.43122391T>C | CA460787209 | POMK | c.567T>C (p.Ile189=) c.*363T>C (n.*363T>C) c.285T>C (p.Ile95=) c.*487T>C (n.*487T>C) c.525T>C (p.Ile175=) c.*352T>C (n.*352T>C) | |
8 | g.43122391T>G | CA371122191 | POMK | c.567T>G (p.Ile189Met) c.*363T>G (n.*363T>G) c.285T>G (p.Ile95Met) c.*487T>G (n.*487T>G) c.525T>G (p.Ile175Met) c.*352T>G (n.*352T>G) | |
8 | g.43122392A>C | CA371122195 | POMK | c.568A>C (p.Asn190His) c.*364A>C (n.*364A>C) c.286A>C (p.Asn96His) c.*488A>C (n.*488A>C) c.526A>C (p.Asn176His) c.*353A>C (n.*353A>C) | |
8 | g.43122392A>G | CA371122192 | POMK | c.568A>G (p.Asn190Asp) c.*364A>G (n.*364A>G) c.286A>G (p.Asn96Asp) c.*488A>G (n.*488A>G) c.526A>G (p.Asn176Asp) c.*353A>G (n.*353A>G) | |
8 | g.43122392A>T | CA371122193 | POMK | c.568A>T (p.Asn190Tyr) c.*364A>T (n.*364A>T) c.286A>T (p.Asn96Tyr) c.*488A>T (n.*488A>T) c.526A>T (p.Asn176Tyr) c.*353A>T (n.*353A>T) | |
8 | g.43122393A= | CA1779747313 | POMK | c.569A= (p.Asn190=) c.*365A= (n.*365A=) c.287A= (p.Asn96=) c.*489A= (n.*489A=) c.527A= (p.Asn176=) c.*354A= (n.*354A=) | |
8 | g.43122393A>C | CA371122196 | POMK | c.569A>C (p.Asn190Thr) c.*365A>C (n.*365A>C) c.287A>C (p.Asn96Thr) c.*489A>C (n.*489A>C) c.527A>C (p.Asn176Thr) c.*354A>C (n.*354A>C) | |
8 | g.43122393A>G | CA371122197 | POMK | c.569A>G (p.Asn190Ser) c.*365A>G (n.*365A>G) c.287A>G (p.Asn96Ser) c.*489A>G (n.*489A>G) c.527A>G (p.Asn176Ser) c.*354A>G (n.*354A>G) | dbSNP gnomAD v4 |
8 | g.43122393A>T | CA371122198 | POMK | c.569A>T (p.Asn190Ile) c.*365A>T (n.*365A>T) c.287A>T (p.Asn96Ile) c.*489A>T (n.*489A>T) c.527A>T (p.Asn176Ile) c.*354A>T (n.*354A>T) | |
8 | g.43122394T>A | CA371122199 | POMK | c.570T>A (p.Asn190Lys) c.*366T>A (n.*366T>A) c.288T>A (p.Asn96Lys) c.*490T>A (n.*490T>A) c.528T>A (p.Asn176Lys) c.*355T>A (n.*355T>A) | |
8 | g.43122394T>C | CA460787211 | POMK | c.570T>C (p.Asn190=) c.*366T>C (n.*366T>C) c.288T>C (p.Asn96=) c.*490T>C (n.*490T>C) c.528T>C (p.Asn176=) c.*355T>C (n.*355T>C) | |
8 | g.43122394T>G | CA371122200 | POMK | c.570T>G (p.Asn190Lys) c.*366T>G (n.*366T>G) c.288T>G (p.Asn96Lys) c.*490T>G (n.*490T>G) c.528T>G (p.Asn176Lys) c.*355T>G (n.*355T>G) | |
8 | g.43122395T>A | CA371122201 | POMK | c.571T>A (p.Tyr191Asn) c.*367T>A (n.*367T>A) c.289T>A (p.Tyr97Asn) c.*491T>A (n.*491T>A) c.529T>A (p.Tyr177Asn) c.*356T>A (n.*356T>A) | |
8 | g.43122395T>C | CA371122202 | POMK | c.571T>C (p.Tyr191His) c.*367T>C (n.*367T>C) c.289T>C (p.Tyr97His) c.*491T>C (n.*491T>C) c.529T>C (p.Tyr177His) c.*356T>C (n.*356T>C) | |
8 | g.43122395T>G | CA371122203 | POMK | c.571T>G (p.Tyr191Asp) c.*367T>G (n.*367T>G) c.289T>G (p.Tyr97Asp) c.*491T>G (n.*491T>G) c.529T>G (p.Tyr177Asp) c.*356T>G (n.*356T>G) | dbSNP |
8 | g.43122396A= | CA1779747315 | POMK | c.572A= (p.Tyr191=) c.*368A= (n.*368A=) c.290A= (p.Tyr97=) c.*492A= (n.*492A=) c.530A= (p.Tyr177=) c.*357A= (n.*357A=) | |
8 | g.43122396A>C | CA371122204 | POMK | c.572A>C (p.Tyr191Ser) c.*368A>C (n.*368A>C) c.290A>C (p.Tyr97Ser) c.*492A>C (n.*492A>C) c.530A>C (p.Tyr177Ser) c.*357A>C (n.*357A>C) | dbSNP |
8 | g.43122396A>G | CA371122205 | POMK | c.572A>G (p.Tyr191Cys) c.*368A>G (n.*368A>G) c.290A>G (p.Tyr97Cys) c.*492A>G (n.*492A>G) c.530A>G (p.Tyr177Cys) c.*357A>G (n.*357A>G) | |
8 | g.43122396A>T | CA371122206 | POMK | c.572A>T (p.Tyr191Phe) c.*368A>T (n.*368A>T) c.290A>T (p.Tyr97Phe) c.*492A>T (n.*492A>T) c.530A>T (p.Tyr177Phe) c.*357A>T (n.*357A>T) | |
8 | g.43122397C>A | CA371122207 | POMK | c.573C>A (p.Tyr191Ter) c.*369C>A (n.*369C>A) c.291C>A (p.Tyr97Ter) c.*493C>A (n.*493C>A) c.531C>A (p.Tyr177Ter) c.*358C>A (n.*358C>A) | |
8 | g.43122397C>G | CA371122208 | POMK | c.573C>G (p.Tyr191Ter) c.*369C>G (n.*369C>G) c.291C>G (p.Tyr97Ter) c.*493C>G (n.*493C>G) c.531C>G (p.Tyr177Ter) c.*358C>G (n.*358C>G) | |
8 | g.43122397C>T | CA460787212 | POMK | c.573C>T (p.Tyr191=) c.*369C>T (n.*369C>T) c.291C>T (p.Tyr97=) c.*493C>T (n.*493C>T) c.531C>T (p.Tyr177=) c.*358C>T (n.*358C>T) | |
8 | g.43122398C>A | CA371122209 | POMK | c.574C>A (p.Leu192Met) c.*370C>A (n.*370C>A) c.292C>A (p.Leu98Met) c.*494C>A (n.*494C>A) c.532C>A (p.Leu178Met) c.*359C>A (n.*359C>A) | |
8 | g.43122398C>G | CA371122210 | POMK | c.574C>G (p.Leu192Val) c.*370C>G (n.*370C>G) c.292C>G (p.Leu98Val) c.*494C>G (n.*494C>G) c.532C>G (p.Leu178Val) c.*359C>G (n.*359C>G) | COSMIC COSMIC |
8 | g.43122398C>T | CA460787213 | POMK | c.574C>T (p.Leu192=) c.*370C>T (n.*370C>T) c.292C>T (p.Leu98=) c.*494C>T (n.*494C>T) c.532C>T (p.Leu178=) c.*359C>T (n.*359C>T) | |
8 | g.43122399T>A | CA371122211 | POMK | c.575T>A (p.Leu192Gln) c.*371T>A (n.*371T>A) c.293T>A (p.Leu98Gln) c.*495T>A (n.*495T>A) c.533T>A (p.Leu178Gln) c.*360T>A (n.*360T>A) | |
8 | g.43122399T>C | CA371122212 | POMK | c.575T>C (p.Leu192Pro) c.*371T>C (n.*371T>C) c.293T>C (p.Leu98Pro) c.*495T>C (n.*495T>C) c.533T>C (p.Leu178Pro) c.*360T>C (n.*360T>C) | |
8 | g.43122399T>G | CA371122213 | POMK | c.575T>G (p.Leu192Arg) c.*371T>G (n.*371T>G) c.293T>G (p.Leu98Arg) c.*495T>G (n.*495T>G) c.533T>G (p.Leu178Arg) c.*360T>G (n.*360T>G) |