| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.43122400G>A | CA460787214 | POMK | c.576G>A (p.Leu192=) c.*372G>A (n.*372G>A) c.294G>A (p.Leu98=) c.*496G>A (n.*496G>A) c.534G>A (p.Leu178=) c.*361G>A (n.*361G>A) | ClinVar dbSNP gnomAD v2 |
| 8 | g.43122400G>C | CA460787215 | POMK | c.576G>C (p.Leu192=) c.*372G>C (n.*372G>C) c.294G>C (p.Leu98=) c.*496G>C (n.*496G>C) c.534G>C (p.Leu178=) c.*361G>C (n.*361G>C) | |
| 8 | g.43122400G= | CA1779747318 | POMK | c.576G= (p.Leu192=) c.*372G= (n.*372G=) c.294G= (p.Leu98=) c.*496G= (n.*496G=) c.534G= (p.Leu178=) c.*361G= (n.*361G=) | |
| 8 | g.43122400G>T | CA460787216 | POMK | c.576G>T (p.Leu192=) c.*372G>T (n.*372G>T) c.294G>T (p.Leu98=) c.*496G>T (n.*496G>T) c.534G>T (p.Leu178=) c.*361G>T (n.*361G>T) | gnomAD v4 |
| 8 | g.43122401C>A | CA371122214 | POMK | c.577C>A (p.His193Asn) c.*373C>A (n.*373C>A) c.295C>A (p.His99Asn) c.*497C>A (n.*497C>A) c.535C>A (p.His179Asn) c.*362C>A (n.*362C>A) | |
| 8 | g.43122401C>G | CA371122215 | POMK | c.577C>G (p.His193Asp) c.*373C>G (n.*373C>G) c.295C>G (p.His99Asp) c.*497C>G (n.*497C>G) c.535C>G (p.His179Asp) c.*362C>G (n.*362C>G) | ClinVar |
| 8 | g.43122401C>T | CA371122216 | POMK | c.577C>T (p.His193Tyr) c.*373C>T (n.*373C>T) c.295C>T (p.His99Tyr) c.*497C>T (n.*497C>T) c.535C>T (p.His179Tyr) c.*362C>T (n.*362C>T) | |
| 8 | g.43122402A>C | CA371122217 | POMK | c.578A>C (p.His193Pro) c.*374A>C (n.*374A>C) c.296A>C (p.His99Pro) c.*498A>C (n.*498A>C) c.536A>C (p.His179Pro) c.*363A>C (n.*363A>C) | |
| 8 | g.43122402A>G | CA371122218 | POMK | c.578A>G (p.His193Arg) c.*374A>G (n.*374A>G) c.296A>G (p.His99Arg) c.*498A>G (n.*498A>G) c.536A>G (p.His179Arg) c.*363A>G (n.*363A>G) | |
| 8 | g.43122402A>T | CA371122219 | POMK | c.578A>T (p.His193Leu) c.*374A>T (n.*374A>T) c.296A>T (p.His99Leu) c.*498A>T (n.*498A>T) c.536A>T (p.His179Leu) c.*363A>T (n.*363A>T) | |
| 8 | g.43122403C>A | CA371122220 | POMK | c.579C>A (p.His193Gln) c.*375C>A (n.*375C>A) c.297C>A (p.His99Gln) c.*499C>A (n.*499C>A) c.537C>A (p.His179Gln) c.*364C>A (n.*364C>A) | gnomAD v4 |
| 8 | g.43122403C= | CA1779747322 | POMK | c.579C= (p.His193=) c.*375C= (n.*375C=) c.297C= (p.His99=) c.*499C= (n.*499C=) c.537C= (p.His179=) c.*364C= (n.*364C=) | |
| 8 | g.43122403C>G | CA371122221 | POMK | c.579C>G (p.His193Gln) c.*375C>G (n.*375C>G) c.297C>G (p.His99Gln) c.*499C>G (n.*499C>G) c.537C>G (p.His179Gln) c.*364C>G (n.*364C>G) | |
| 8 | g.43122403C>T | CA4736305 | POMK | c.579C>T (p.His193=) c.*375C>T (n.*375C>T) c.297C>T (p.His99=) c.*499C>T (n.*499C>T) c.537C>T (p.His179=) c.*364C>T (n.*364C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122404C>A | CA371122222 | POMK | c.580C>A (p.His194Asn) c.*376C>A (n.*376C>A) c.298C>A (p.His100Asn) c.*500C>A (n.*500C>A) c.538C>A (p.His180Asn) c.*365C>A (n.*365C>A) | gnomAD v4 |
| 8 | g.43122404C= | CA1779747325 | POMK | c.580C= (p.His194=) c.*376C= (n.*376C=) c.298C= (p.His100=) c.*500C= (n.*500C=) c.538C= (p.His180=) c.*365C= (n.*365C=) | |
| 8 | g.43122404C>G | CA371122223 | POMK | c.580C>G (p.His194Asp) c.*376C>G (n.*376C>G) c.298C>G (p.His100Asp) c.*500C>G (n.*500C>G) c.538C>G (p.His180Asp) c.*365C>G (n.*365C>G) | |
| 8 | g.43122404C>T | CA4736306 | POMK | c.580C>T (p.His194Tyr) c.*376C>T (n.*376C>T) c.298C>T (p.His100Tyr) c.*500C>T (n.*500C>T) c.538C>T (p.His180Tyr) c.*365C>T (n.*365C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122405A= | CA1779747328 | POMK | c.581A= (p.His194=) c.*377A= (n.*377A=) c.299A= (p.His100=) c.*501A= (n.*501A=) c.539A= (p.His180=) c.*366A= (n.*366A=) | |
| 8 | g.43122405A>C | CA371122224 | POMK | c.581A>C (p.His194Pro) c.*377A>C (n.*377A>C) c.299A>C (p.His100Pro) c.*501A>C (n.*501A>C) c.539A>C (p.His180Pro) c.*366A>C (n.*366A>C) | |
| 8 | g.43122405A>G | CA371122225 | POMK | c.581A>G (p.His194Arg) c.*377A>G (n.*377A>G) c.299A>G (p.His100Arg) c.*501A>G (n.*501A>G) c.539A>G (p.His180Arg) c.*366A>G (n.*366A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122405A>T | CA4736307 | POMK | c.581A>T (p.His194Leu) c.*377A>T (n.*377A>T) c.299A>T (p.His100Leu) c.*501A>T (n.*501A>T) c.539A>T (p.His180Leu) c.*366A>T (n.*366A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122406C>A | CA371122226 | POMK | c.582C>A (p.His194Gln) c.*378C>A (n.*378C>A) c.300C>A (p.His100Gln) c.*502C>A (n.*502C>A) c.540C>A (p.His180Gln) c.*367C>A (n.*367C>A) | |
| 8 | g.43122406C= | CA1779747331 | POMK | c.582C= (p.His194=) c.*378C= (n.*378C=) c.300C= (p.His100=) c.*502C= (n.*502C=) c.540C= (p.His180=) c.*367C= (n.*367C=) | |
| 8 | g.43122406C>G | CA4736308 | POMK | c.582C>G (p.His194Gln) c.*378C>G (n.*378C>G) c.300C>G (p.His100Gln) c.*502C>G (n.*502C>G) c.540C>G (p.His180Gln) c.*367C>G (n.*367C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122406C>T | CA460787217 | POMK | c.582C>T (p.His194=) c.*378C>T (n.*378C>T) c.300C>T (p.His100=) c.*502C>T (n.*502C>T) c.540C>T (p.His180=) c.*367C>T (n.*367C>T) | dbSNP gnomAD v4 |
| 8 | g.43122407A>C | CA371122227 | POMK | c.583A>C (p.Ser195Arg) c.*379A>C (n.*379A>C) c.301A>C (p.Ser101Arg) c.*503A>C (n.*503A>C) c.541A>C (p.Ser181Arg) c.*368A>C (n.*368A>C) | |
| 8 | g.43122407A>G | CA371122228 | POMK | c.583A>G (p.Ser195Gly) c.*379A>G (n.*379A>G) c.301A>G (p.Ser101Gly) c.*503A>G (n.*503A>G) c.541A>G (p.Ser181Gly) c.*368A>G (n.*368A>G) | gnomAD v4 |
| 8 | g.43122407A>T | CA371122229 | POMK | c.583A>T (p.Ser195Cys) c.*379A>T (n.*379A>T) c.301A>T (p.Ser101Cys) c.*503A>T (n.*503A>T) c.541A>T (p.Ser181Cys) c.*368A>T (n.*368A>T) | |
| 8 | g.43122408G>A | CA371122230 | POMK | c.584G>A (p.Ser195Asn) c.*380G>A (n.*380G>A) c.302G>A (p.Ser101Asn) c.*504G>A (n.*504G>A) c.542G>A (p.Ser181Asn) c.*369G>A (n.*369G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122408G>C | CA371122231 | POMK | c.584G>C (p.Ser195Thr) c.*380G>C (n.*380G>C) c.302G>C (p.Ser101Thr) c.*504G>C (n.*504G>C) c.542G>C (p.Ser181Thr) c.*369G>C (n.*369G>C) | |
| 8 | g.43122408G= | CA1779747335 | POMK | c.584G= (p.Ser195=) c.*380G= (n.*380G=) c.302G= (p.Ser101=) c.*504G= (n.*504G=) c.542G= (p.Ser181=) c.*369G= (n.*369G=) | |
| 8 | g.43122408G>T | CA371122232 | POMK | c.584G>T (p.Ser195Ile) c.*380G>T (n.*380G>T) c.302G>T (p.Ser101Ile) c.*504G>T (n.*504G>T) c.542G>T (p.Ser181Ile) c.*369G>T (n.*369G>T) | |
| 8 | g.43122409_43122430del | CA2579158816 | POMK | c.585_606del (p.Pro196AlafsTer15) c.*381_*402del (n.*381_*402del) c.303_324del (p.Pro102AlafsTer15) c.*505_*526del (n.*505_*526del) c.543_564del (p.Pro182AlafsTer15) c.*370_*391del (n.*370_*391del) | |
| 8 | g.43122409C>A | CA4736309 | POMK | c.585C>A (p.Ser195Arg) c.*381C>A (n.*381C>A) c.303C>A (p.Ser101Arg) c.*505C>A (n.*505C>A) c.543C>A (p.Ser181Arg) c.*370C>A (n.*370C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122409C= | CA1779747338 | POMK | c.585C= (p.Ser195=) c.*381C= (n.*381C=) c.303C= (p.Ser101=) c.*505C= (n.*505C=) c.543C= (p.Ser181=) c.*370C= (n.*370C=) | |
| 8 | g.43122409C>G | CA371122233 | POMK | c.585C>G (p.Ser195Arg) c.*381C>G (n.*381C>G) c.303C>G (p.Ser101Arg) c.*505C>G (n.*505C>G) c.543C>G (p.Ser181Arg) c.*370C>G (n.*370C>G) | gnomAD v4 |
| 8 | g.43122409C>T | CA460787218 | POMK | c.585C>T (p.Ser195=) c.*381C>T (n.*381C>T) c.303C>T (p.Ser101=) c.*505C>T (n.*505C>T) c.543C>T (p.Ser181=) c.*370C>T (n.*370C>T) | dbSNP |
| 8 | g.43122409_43122412del | CA2687148295 | POMK | c.585_588del (p.Ser195ArgfsTer22) c.*381_*384del (n.*381_*384del) c.303_306del (p.Ser101ArgfsTer22) c.*505_*508del (n.*505_*508del) c.543_546del (p.Ser181ArgfsTer22) c.*370_*373del (n.*370_*373del) | gnomAD v4 |
| 8 | g.43122410C>A | CA371122234 | POMK | c.586C>A (p.Pro196Thr) c.*382C>A (n.*382C>A) c.304C>A (p.Pro102Thr) c.*506C>A (n.*506C>A) c.544C>A (p.Pro182Thr) c.*371C>A (n.*371C>A) | |
| 8 | g.43122410C>G | CA371122235 | POMK | c.586C>G (p.Pro196Ala) c.*382C>G (n.*382C>G) c.304C>G (p.Pro102Ala) c.*506C>G (n.*506C>G) c.544C>G (p.Pro182Ala) c.*371C>G (n.*371C>G) | |
| 8 | g.43122410C>T | CA371122236 | POMK | c.586C>T (p.Pro196Ser) c.*382C>T (n.*382C>T) c.304C>T (p.Pro102Ser) c.*506C>T (n.*506C>T) c.544C>T (p.Pro182Ser) c.*371C>T (n.*371C>T) | |
| 8 | g.43122411C>A | CA371122237 | POMK | c.587C>A (p.Pro196His) c.*383C>A (n.*383C>A) c.305C>A (p.Pro102His) c.*507C>A (n.*507C>A) c.545C>A (p.Pro182His) c.*372C>A (n.*372C>A) | |
| 8 | g.43122411C>G | CA371122238 | POMK | c.587C>G (p.Pro196Arg) c.*383C>G (n.*383C>G) c.305C>G (p.Pro102Arg) c.*507C>G (n.*507C>G) c.545C>G (p.Pro182Arg) c.*372C>G (n.*372C>G) | |
| 8 | g.43122411C>T | CA371122239 | POMK | c.587C>T (p.Pro196Leu) c.*383C>T (n.*383C>T) c.305C>T (p.Pro102Leu) c.*507C>T (n.*507C>T) c.545C>T (p.Pro182Leu) c.*372C>T (n.*372C>T) | gnomAD v3 gnomAD v4 |
| 8 | g.43122412T>A | CA460787220 | POMK | c.588T>A (p.Pro196=) c.*384T>A (n.*384T>A) c.306T>A (p.Pro102=) c.*508T>A (n.*508T>A) c.546T>A (p.Pro182=) c.*373T>A (n.*373T>A) | |
| 8 | g.43122412T>C | CA4736310 | POMK | c.588T>C (p.Pro196=) c.*384T>C (n.*384T>C) c.306T>C (p.Pro102=) c.*508T>C (n.*508T>C) c.546T>C (p.Pro182=) c.*373T>C (n.*373T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122412T>G | CA460787219 | POMK | c.588T>G (p.Pro196=) c.*384T>G (n.*384T>G) c.306T>G (p.Pro102=) c.*508T>G (n.*508T>G) c.546T>G (p.Pro182=) c.*373T>G (n.*373T>G) | |
| 8 | g.43122412T= | CA1779747341 | POMK | c.588T= (p.Pro196=) c.*384T= (n.*384T=) c.306T= (p.Pro102=) c.*508T= (n.*508T=) c.546T= (p.Pro182=) c.*373T= (n.*373T=) | |
| 8 | g.43122413G>A | CA371122240 | POMK | c.589G>A (p.Val197Met) c.*385G>A (n.*385G>A) c.307G>A (p.Val103Met) c.*509G>A (n.*509G>A) c.547G>A (p.Val183Met) c.*374G>A (n.*374G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.43122413G>C | CA371122241 | POMK | c.589G>C (p.Val197Leu) c.*385G>C (n.*385G>C) c.307G>C (p.Val103Leu) c.*509G>C (n.*509G>C) c.547G>C (p.Val183Leu) c.*374G>C (n.*374G>C) | |
| 8 | g.43122413G= | CA1779747348 | POMK | c.589G= (p.Val197=) c.*385G= (n.*385G=) c.307G= (p.Val103=) c.*509G= (n.*509G=) c.547G= (p.Val183=) c.*374G= (n.*374G=) | |
| 8 | g.43122413G>T | CA4736311 | POMK | c.589G>T (p.Val197Leu) c.*385G>T (n.*385G>T) c.307G>T (p.Val103Leu) c.*509G>T (n.*509G>T) c.547G>T (p.Val183Leu) c.*374G>T (n.*374G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122414T>A | CA371122242 | POMK | c.590T>A (p.Val197Glu) c.*386T>A (n.*386T>A) c.308T>A (p.Val103Glu) c.*510T>A (n.*510T>A) c.548T>A (p.Val183Glu) c.*375T>A (n.*375T>A) | |
| 8 | g.43122414T>C | CA371122243 | POMK | c.590T>C (p.Val197Ala) c.*386T>C (n.*386T>C) c.308T>C (p.Val103Ala) c.*510T>C (n.*510T>C) c.548T>C (p.Val183Ala) c.*375T>C (n.*375T>C) | gnomAD v4 |
| 8 | g.43122414T>G | CA371122244 | POMK | c.590T>G (p.Val197Gly) c.*386T>G (n.*386T>G) c.308T>G (p.Val103Gly) c.*510T>G (n.*510T>G) c.548T>G (p.Val183Gly) c.*375T>G (n.*375T>G) | |
| 8 | g.43122414_43122431del | CA2687148312 | POMK | c.590_607del (p.Val197_Cys203delinsGly) c.*386_*403del (n.*386_*403del) c.308_325del (p.Val103_Cys109delinsGly) c.*510_*527del (n.*510_*527del) c.548_565del (p.Val183_Cys189delinsGly) c.*375_*392del (n.*375_*392del) | gnomAD v4 |
| 8 | g.43122415G>A | CA460787221 | POMK | c.591G>A (p.Val197=) c.*387G>A (n.*387G>A) c.309G>A (p.Val103=) c.*511G>A (n.*511G>A) c.549G>A (p.Val183=) c.*376G>A (n.*376G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122415G>C | CA460787222 | POMK | c.591G>C (p.Val197=) c.*387G>C (n.*387G>C) c.309G>C (p.Val103=) c.*511G>C (n.*511G>C) c.549G>C (p.Val183=) c.*376G>C (n.*376G>C) | |
| 8 | g.43122415G= | CA1779747353 | POMK | c.591G= (p.Val197=) c.*387G= (n.*387G=) c.309G= (p.Val103=) c.*511G= (n.*511G=) c.549G= (p.Val183=) c.*376G= (n.*376G=) | |
| 8 | g.43122415G>T | CA4736312 | POMK | c.591G>T (p.Val197=) c.*387G>T (n.*387G>T) c.309G>T (p.Val103=) c.*511G>T (n.*511G>T) c.549G>T (p.Val183=) c.*376G>T (n.*376G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122416G>A | CA371122246 | POMK | c.592G>A (p.Gly198Ser) c.*388G>A (n.*388G>A) c.310G>A (p.Gly104Ser) c.*512G>A (n.*512G>A) c.550G>A (p.Gly184Ser) c.*377G>A (n.*377G>A) | |
| 8 | g.43122416G>C | CA371122245 | POMK | c.592G>C (p.Gly198Arg) c.*388G>C (n.*388G>C) c.310G>C (p.Gly104Arg) c.*512G>C (n.*512G>C) c.550G>C (p.Gly184Arg) c.*377G>C (n.*377G>C) | |
| 8 | g.43122416G>T | CA371122247 | POMK | c.592G>T (p.Gly198Cys) c.*388G>T (n.*388G>T) c.310G>T (p.Gly104Cys) c.*512G>T (n.*512G>T) c.550G>T (p.Gly184Cys) c.*377G>T (n.*377G>T) | |
| 8 | g.43122417G>A | CA371122248 | POMK | c.593G>A (p.Gly198Asp) c.*389G>A (n.*389G>A) c.311G>A (p.Gly104Asp) c.*513G>A (n.*513G>A) c.551G>A (p.Gly184Asp) c.*378G>A (n.*378G>A) | gnomAD v4 |
| 8 | g.43122417G>C | CA371122250 | POMK | c.593G>C (p.Gly198Ala) c.*389G>C (n.*389G>C) c.311G>C (p.Gly104Ala) c.*513G>C (n.*513G>C) c.551G>C (p.Gly184Ala) c.*378G>C (n.*378G>C) | |
| 8 | g.43122417G>T | CA371122249 | POMK | c.593G>T (p.Gly198Val) c.*389G>T (n.*389G>T) c.311G>T (p.Gly104Val) c.*513G>T (n.*513G>T) c.551G>T (p.Gly184Val) c.*378G>T (n.*378G>T) | |
| 8 | g.43122418C>A | CA460787223 | POMK | c.594C>A (p.Gly198=) c.*390C>A (n.*390C>A) c.312C>A (p.Gly104=) c.*514C>A (n.*514C>A) c.552C>A (p.Gly184=) c.*379C>A (n.*379C>A) | |
| 8 | g.43122418C= | CA1779747359 | POMK | c.594C= (p.Gly198=) c.*390C= (n.*390C=) c.312C= (p.Gly104=) c.*514C= (n.*514C=) c.552C= (p.Gly184=) c.*379C= (n.*379C=) | |
| 8 | g.43122418C>G | CA460787224 | POMK | c.594C>G (p.Gly198=) c.*390C>G (n.*390C>G) c.312C>G (p.Gly104=) c.*514C>G (n.*514C>G) c.552C>G (p.Gly184=) c.*379C>G (n.*379C>G) | |
| 8 | g.43122418C>T | CA460787225 | POMK | c.594C>T (p.Gly198=) c.*390C>T (n.*390C>T) c.312C>T (p.Gly104=) c.*514C>T (n.*514C>T) c.552C>T (p.Gly184=) c.*379C>T (n.*379C>T) | |
| 8 | g.43122419A>C | CA371122251 | POMK | c.595A>C (p.Thr199Pro) c.*391A>C (n.*391A>C) c.313A>C (p.Thr105Pro) c.*515A>C (n.*515A>C) c.553A>C (p.Thr185Pro) c.*380A>C (n.*380A>C) | |
| 8 | g.43122419A>G | CA371122252 | POMK | c.595A>G (p.Thr199Ala) c.*391A>G (n.*391A>G) c.313A>G (p.Thr105Ala) c.*515A>G (n.*515A>G) c.553A>G (p.Thr185Ala) c.*380A>G (n.*380A>G) | |
| 8 | g.43122419A>T | CA371122253 | POMK | c.595A>T (p.Thr199Ser) c.*391A>T (n.*391A>T) c.313A>T (p.Thr105Ser) c.*515A>T (n.*515A>T) c.553A>T (p.Thr185Ser) c.*380A>T (n.*380A>T) | |
| 8 | g.43122419dup | CA581929121 | POMK | c.595dup (p.Thr199AsnfsTer29) c.*391dup (n.*391dup) c.313dup (p.Thr105AsnfsTer29) c.*515dup (n.*515dup) c.553dup (p.Thr185AsnfsTer29) c.*380dup (n.*380dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122420C>A | CA371122254 | POMK | c.596C>A (p.Thr199Lys) c.*392C>A (n.*392C>A) c.314C>A (p.Thr105Lys) c.*516C>A (n.*516C>A) c.554C>A (p.Thr185Lys) c.*381C>A (n.*381C>A) | |
| 8 | g.43122420C>G | CA371122255 | POMK | c.596C>G (p.Thr199Arg) c.*392C>G (n.*392C>G) c.314C>G (p.Thr105Arg) c.*516C>G (n.*516C>G) c.554C>G (p.Thr185Arg) c.*381C>G (n.*381C>G) | |
| 8 | g.43122420C>T | CA371122256 | POMK | c.596C>T (p.Thr199Ile) c.*392C>T (n.*392C>T) c.314C>T (p.Thr105Ile) c.*516C>T (n.*516C>T) c.554C>T (p.Thr185Ile) c.*381C>T (n.*381C>T) | gnomAD v4 |
| 8 | g.43122421A>C | CA460787226 | POMK | c.597A>C (p.Thr199=) c.*393A>C (n.*393A>C) c.315A>C (p.Thr105=) c.*517A>C (n.*517A>C) c.555A>C (p.Thr185=) c.*382A>C (n.*382A>C) | |
| 8 | g.43122421A>G | CA460787227 | POMK | c.597A>G (p.Thr199=) c.*393A>G (n.*393A>G) c.315A>G (p.Thr105=) c.*517A>G (n.*517A>G) c.555A>G (p.Thr185=) c.*382A>G (n.*382A>G) | |
| 8 | g.43122421A>T | CA460787228 | POMK | c.597A>T (p.Thr199=) c.*393A>T (n.*393A>T) c.315A>T (p.Thr105=) c.*517A>T (n.*517A>T) c.555A>T (p.Thr185=) c.*382A>T (n.*382A>T) | |
| 8 | g.43122422C>A | CA460787229 | POMK | c.598C>A (p.Arg200=) c.*394C>A (n.*394C>A) c.316C>A (p.Arg106=) c.*518C>A (n.*518C>A) c.556C>A (p.Arg186=) c.*383C>A (n.*383C>A) | |
| 8 | g.43122422C= | CA1779747364 | POMK | c.598C= (p.Arg200=) c.*394C= (n.*394C=) c.316C= (p.Arg106=) c.*518C= (n.*518C=) c.556C= (p.Arg186=) c.*383C= (n.*383C=) | |
| 8 | g.43122422C>G | CA371122257 | POMK | c.598C>G (p.Arg200Gly) c.*394C>G (n.*394C>G) c.316C>G (p.Arg106Gly) c.*518C>G (n.*518C>G) c.556C>G (p.Arg186Gly) c.*383C>G (n.*383C>G) | |
| 8 | g.43122422C>T | CA4736313 | POMK | c.598C>T (p.Arg200Trp) c.*394C>T (n.*394C>T) c.316C>T (p.Arg106Trp) c.*518C>T (n.*518C>T) c.556C>T (p.Arg186Trp) c.*383C>T (n.*383C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122423G>A | CA4736314 | POMK | c.599G>A (p.Arg200Gln) c.*395G>A (n.*395G>A) c.317G>A (p.Arg106Gln) c.*519G>A (n.*519G>A) c.557G>A (p.Arg186Gln) c.*384G>A (n.*384G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122423G>C | CA371122258 | POMK | c.599G>C (p.Arg200Pro) c.*395G>C (n.*395G>C) c.317G>C (p.Arg106Pro) c.*519G>C (n.*519G>C) c.557G>C (p.Arg186Pro) c.*384G>C (n.*384G>C) | |
| 8 | g.43122423G= | CA1779747378 | POMK | c.599G= (p.Arg200=) c.*395G= (n.*395G=) c.317G= (p.Arg106=) c.*519G= (n.*519G=) c.557G= (p.Arg186=) c.*384G= (n.*384G=) | |
| 8 | g.43122423G>T | CA4736315 | POMK | c.599G>T (p.Arg200Leu) c.*395G>T (n.*395G>T) c.317G>T (p.Arg106Leu) c.*519G>T (n.*519G>T) c.557G>T (p.Arg186Leu) c.*384G>T (n.*384G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122424G>A | CA460787230 | POMK | c.600G>A (p.Arg200=) c.*396G>A (n.*396G>A) c.318G>A (p.Arg106=) c.*520G>A (n.*520G>A) c.558G>A (p.Arg186=) c.*385G>A (n.*385G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.43122424G>C | CA460787231 | POMK | c.600G>C (p.Arg200=) c.*396G>C (n.*396G>C) c.318G>C (p.Arg106=) c.*520G>C (n.*520G>C) c.558G>C (p.Arg186=) c.*385G>C (n.*385G>C) | |
| 8 | g.43122424G= | CA1779747388 | POMK | c.600G= (p.Arg200=) c.*396G= (n.*396G=) c.318G= (p.Arg106=) c.*520G= (n.*520G=) c.558G= (p.Arg186=) c.*385G= (n.*385G=) | |
| 8 | g.43122424G>T | CA460787232 | POMK | c.600G>T (p.Arg200=) c.*396G>T (n.*396G>T) c.318G>T (p.Arg106=) c.*520G>T (n.*520G>T) c.558G>T (p.Arg186=) c.*385G>T (n.*385G>T) | |
| 8 | g.43122425G>A | CA371122261 | POMK | c.601G>A (p.Val201Ile) c.*397G>A (n.*397G>A) c.319G>A (p.Val107Ile) c.*521G>A (n.*521G>A) c.559G>A (p.Val187Ile) c.*386G>A (n.*386G>A) | |
| 8 | g.43122425G>C | CA371122260 | POMK | c.601G>C (p.Val201Leu) c.*397G>C (n.*397G>C) c.319G>C (p.Val107Leu) c.*521G>C (n.*521G>C) c.559G>C (p.Val187Leu) c.*386G>C (n.*386G>C) | |
| 8 | g.43122425G>T | CA371122259 | POMK | c.601G>T (p.Val201Phe) c.*397G>T (n.*397G>T) c.319G>T (p.Val107Phe) c.*521G>T (n.*521G>T) c.559G>T (p.Val187Phe) c.*386G>T (n.*386G>T) | |
| 8 | g.43122426T>A | CA371122262 | POMK | c.602T>A (p.Val201Asp) c.*398T>A (n.*398T>A) c.320T>A (p.Val107Asp) c.*522T>A (n.*522T>A) c.560T>A (p.Val187Asp) c.*387T>A (n.*387T>A) | |
| 8 | g.43122426T>C | CA371122263 | POMK | c.602T>C (p.Val201Ala) c.*398T>C (n.*398T>C) c.320T>C (p.Val107Ala) c.*522T>C (n.*522T>C) c.560T>C (p.Val187Ala) c.*387T>C (n.*387T>C) | gnomAD v4 |
| 8 | g.43122426T>G | CA371122264 | POMK | c.602T>G (p.Val201Gly) c.*398T>G (n.*398T>G) c.320T>G (p.Val107Gly) c.*522T>G (n.*522T>G) c.560T>G (p.Val187Gly) c.*387T>G (n.*387T>G) | |
| 8 | g.43122427C>A | CA460787233 | POMK | c.603C>A (p.Val201=) c.*399C>A (n.*399C>A) c.321C>A (p.Val107=) c.*523C>A (n.*523C>A) c.561C>A (p.Val187=) c.*388C>A (n.*388C>A) | gnomAD v4 |
| 8 | g.43122427C>G | CA460787234 | POMK | c.603C>G (p.Val201=) c.*399C>G (n.*399C>G) c.321C>G (p.Val107=) c.*523C>G (n.*523C>G) c.561C>G (p.Val187=) c.*388C>G (n.*388C>G) | |
| 8 | g.43122427C>T | CA460787235 | POMK | c.603C>T (p.Val201=) c.*399C>T (n.*399C>T) c.321C>T (p.Val107=) c.*523C>T (n.*523C>T) c.561C>T (p.Val187=) c.*388C>T (n.*388C>T) | gnomAD v4 |
| 8 | g.43122428A>C | CA371122265 | POMK | c.604A>C (p.Met202Leu) c.*400A>C (n.*400A>C) c.322A>C (p.Met108Leu) c.*524A>C (n.*524A>C) c.562A>C (p.Met188Leu) c.*389A>C (n.*389A>C) | |
| 8 | g.43122428A>G | CA371122266 | POMK | c.604A>G (p.Met202Val) c.*400A>G (n.*400A>G) c.322A>G (p.Met108Val) c.*524A>G (n.*524A>G) c.562A>G (p.Met188Val) c.*389A>G (n.*389A>G) | |
| 8 | g.43122428A>T | CA371122267 | POMK | c.604A>T (p.Met202Leu) c.*400A>T (n.*400A>T) c.322A>T (p.Met108Leu) c.*524A>T (n.*524A>T) c.562A>T (p.Met188Leu) c.*389A>T (n.*389A>T) | |
| 8 | g.43122429T>A | CA371122268 | POMK | c.605T>A (p.Met202Lys) c.*401T>A (n.*401T>A) c.323T>A (p.Met108Lys) c.*525T>A (n.*525T>A) c.563T>A (p.Met188Lys) c.*390T>A (n.*390T>A) | |
| 8 | g.43122429T>C | CA4736316 | POMK | c.605T>C (p.Met202Thr) c.*401T>C (n.*401T>C) c.323T>C (p.Met108Thr) c.*525T>C (n.*525T>C) c.563T>C (p.Met188Thr) c.*390T>C (n.*390T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122429T>G | CA371122269 | POMK | c.605T>G (p.Met202Arg) c.*401T>G (n.*401T>G) c.323T>G (p.Met108Arg) c.*525T>G (n.*525T>G) c.563T>G (p.Met188Arg) c.*390T>G (n.*390T>G) | |
| 8 | g.43122429T= | CA1779747393 | POMK | c.605T= (p.Met202=) c.*401T= (n.*401T=) c.323T= (p.Met108=) c.*525T= (n.*525T=) c.563T= (p.Met188=) c.*390T= (n.*390T=) | |
| 8 | g.43122430G>A | CA371122270 | POMK | c.606G>A (p.Met202Ile) c.*402G>A (n.*402G>A) c.324G>A (p.Met108Ile) c.*526G>A (n.*526G>A) c.564G>A (p.Met188Ile) c.*391G>A (n.*391G>A) | gnomAD v4 |
| 8 | g.43122430G>C | CA371122271 | POMK | c.606G>C (p.Met202Ile) c.*402G>C (n.*402G>C) c.324G>C (p.Met108Ile) c.*526G>C (n.*526G>C) c.564G>C (p.Met188Ile) c.*391G>C (n.*391G>C) | |
| 8 | g.43122430G>T | CA371122272 | POMK | c.606G>T (p.Met202Ile) c.*402G>T (n.*402G>T) c.324G>T (p.Met108Ile) c.*526G>T (n.*526G>T) c.564G>T (p.Met188Ile) c.*391G>T (n.*391G>T) | |
| 8 | g.43122431T>A | CA371122275 | POMK | c.607T>A (p.Cys203Ser) c.*403T>A (n.*403T>A) c.325T>A (p.Cys109Ser) c.*527T>A (n.*527T>A) c.565T>A (p.Cys189Ser) c.*392T>A (n.*392T>A) | COSMIC COSMIC |
| 8 | g.43122431T>C | CA371122274 | POMK | c.607T>C (p.Cys203Arg) c.*403T>C (n.*403T>C) c.325T>C (p.Cys109Arg) c.*527T>C (n.*527T>C) c.565T>C (p.Cys189Arg) c.*392T>C (n.*392T>C) | |
| 8 | g.43122431T>G | CA371122273 | POMK | c.607T>G (p.Cys203Gly) c.*403T>G (n.*403T>G) c.325T>G (p.Cys109Gly) c.*527T>G (n.*527T>G) c.565T>G (p.Cys189Gly) c.*392T>G (n.*392T>G) | |
| 8 | g.43122432G>A | CA371122278 | POMK | c.608G>A (p.Cys203Tyr) c.*404G>A (n.*404G>A) c.326G>A (p.Cys109Tyr) c.*528G>A (n.*528G>A) c.566G>A (p.Cys189Tyr) c.*393G>A (n.*393G>A) | |
| 8 | g.43122432G>C | CA371122276 | POMK | c.608G>C (p.Cys203Ser) c.*404G>C (n.*404G>C) c.326G>C (p.Cys109Ser) c.*528G>C (n.*528G>C) c.566G>C (p.Cys189Ser) c.*393G>C (n.*393G>C) | |
| 8 | g.43122432G>T | CA371122277 | POMK | c.608G>T (p.Cys203Phe) c.*404G>T (n.*404G>T) c.326G>T (p.Cys109Phe) c.*528G>T (n.*528G>T) c.566G>T (p.Cys189Phe) c.*393G>T (n.*393G>T) | |
| 8 | g.43122433C>A | CA371122279 | POMK | c.609C>A (p.Cys203Ter) c.*405C>A (n.*405C>A) c.327C>A (p.Cys109Ter) c.*529C>A (n.*529C>A) c.567C>A (p.Cys189Ter) c.*394C>A (n.*394C>A) | |
| 8 | g.43122433C= | CA1779747397 | POMK | c.609C= (p.Cys203=) c.*405C= (n.*405C=) c.327C= (p.Cys109=) c.*529C= (n.*529C=) c.567C= (p.Cys189=) c.*394C= (n.*394C=) | |
| 8 | g.43122433C>G | CA371122280 | POMK | c.609C>G (p.Cys203Trp) c.*405C>G (n.*405C>G) c.327C>G (p.Cys109Trp) c.*529C>G (n.*529C>G) c.567C>G (p.Cys189Trp) c.*394C>G (n.*394C>G) | |
| 8 | g.43122433C>T | CA4736317 | POMK | c.609C>T (p.Cys203=) c.*405C>T (n.*405C>T) c.327C>T (p.Cys109=) c.*529C>T (n.*529C>T) c.567C>T (p.Cys189=) c.*394C>T (n.*394C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122434G>A | CA4736318 | POMK | c.610G>A (p.Asp204Asn) c.*406G>A (n.*406G>A) c.328G>A (p.Asp110Asn) c.*530G>A (n.*530G>A) c.568G>A (p.Asp190Asn) c.*395G>A (n.*395G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122434G>C | CA371122281 | POMK | c.610G>C (p.Asp204His) c.*406G>C (n.*406G>C) c.328G>C (p.Asp110His) c.*530G>C (n.*530G>C) c.568G>C (p.Asp190His) c.*395G>C (n.*395G>C) | |
| 8 | g.43122434G= | CA1779747402 | POMK | c.610G= (p.Asp204=) c.*406G= (n.*406G=) c.328G= (p.Asp110=) c.*530G= (n.*530G=) c.568G= (p.Asp190=) c.*395G= (n.*395G=) | |
| 8 | g.43122434G>T | CA371122282 | POMK | c.610G>T (p.Asp204Tyr) c.*406G>T (n.*406G>T) c.328G>T (p.Asp110Tyr) c.*530G>T (n.*530G>T) c.568G>T (p.Asp190Tyr) c.*395G>T (n.*395G>T) | gnomAD v4 |
| 8 | g.43122435A>C | CA371122283 | POMK | c.611A>C (p.Asp204Ala) c.*407A>C (n.*407A>C) c.329A>C (p.Asp110Ala) c.*531A>C (n.*531A>C) c.569A>C (p.Asp190Ala) c.*396A>C (n.*396A>C) | |
| 8 | g.43122435A>G | CA371122284 | POMK | c.611A>G (p.Asp204Gly) c.*407A>G (n.*407A>G) c.329A>G (p.Asp110Gly) c.*531A>G (n.*531A>G) c.569A>G (p.Asp190Gly) c.*396A>G (n.*396A>G) | |
| 8 | g.43122435A>T | CA371122285 | POMK | c.611A>T (p.Asp204Val) c.*407A>T (n.*407A>T) c.329A>T (p.Asp110Val) c.*531A>T (n.*531A>T) c.569A>T (p.Asp190Val) c.*396A>T (n.*396A>T) | |
| 8 | g.43122436C>A | CA371122286 | POMK | c.612C>A (p.Asp204Glu) c.*408C>A (n.*408C>A) c.330C>A (p.Asp110Glu) c.*532C>A (n.*532C>A) c.570C>A (p.Asp190Glu) c.*397C>A (n.*397C>A) | |
| 8 | g.43122436C>G | CA371122287 | POMK | c.612C>G (p.Asp204Glu) c.*408C>G (n.*408C>G) c.330C>G (p.Asp110Glu) c.*532C>G (n.*532C>G) c.570C>G (p.Asp190Glu) c.*397C>G (n.*397C>G) | |
| 8 | g.43122436C>T | CA460787236 | POMK | c.612C>T (p.Asp204=) c.*408C>T (n.*408C>T) c.330C>T (p.Asp110=) c.*532C>T (n.*532C>T) c.570C>T (p.Asp190=) c.*397C>T (n.*397C>T) | |
| 8 | g.43122437T>A | CA371122290 | POMK | c.613T>A (p.Ser205Thr) c.*409T>A (n.*409T>A) c.331T>A (p.Ser111Thr) c.*533T>A (n.*533T>A) c.571T>A (p.Ser191Thr) c.*398T>A (n.*398T>A) | |
| 8 | g.43122437T>C | CA371122288 | POMK | c.613T>C (p.Ser205Pro) c.*409T>C (n.*409T>C) c.331T>C (p.Ser111Pro) c.*533T>C (n.*533T>C) c.571T>C (p.Ser191Pro) c.*398T>C (n.*398T>C) | |
| 8 | g.43122437T>G | CA371122289 | POMK | c.613T>G (p.Ser205Ala) c.*409T>G (n.*409T>G) c.331T>G (p.Ser111Ala) c.*533T>G (n.*533T>G) c.571T>G (p.Ser191Ala) c.*398T>G (n.*398T>G) | |
| 8 | g.43122438C>A | CA371122291 | POMK | c.614C>A (p.Ser205Tyr) c.*410C>A (n.*410C>A) c.332C>A (p.Ser111Tyr) c.*534C>A (n.*534C>A) c.572C>A (p.Ser191Tyr) c.*399C>A (n.*399C>A) | |
| 8 | g.43122438C= | CA1779747405 | POMK | c.614C= (p.Ser205=) c.*410C= (n.*410C=) c.332C= (p.Ser111=) c.*534C= (n.*534C=) c.572C= (p.Ser191=) c.*399C= (n.*399C=) | |
| 8 | g.43122438C>G | CA4736319 | POMK | c.614C>G (p.Ser205Cys) c.*410C>G (n.*410C>G) c.332C>G (p.Ser111Cys) c.*534C>G (n.*534C>G) c.572C>G (p.Ser191Cys) c.*399C>G (n.*399C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122438C>T | CA371122292 | POMK | c.614C>T (p.Ser205Phe) c.*410C>T (n.*410C>T) c.332C>T (p.Ser111Phe) c.*534C>T (n.*534C>T) c.572C>T (p.Ser191Phe) c.*399C>T (n.*399C>T) | |
| 8 | g.43122439dup | CA2695199724 | POMK | c.615dup (p.Asn206GlnfsTer22) c.*411dup (n.*411dup) c.333dup (p.Asn112GlnfsTer22) c.*535dup (n.*535dup) c.573dup (p.Asn192GlnfsTer22) c.*400dup (n.*400dup) | ClinVar |
| 8 | g.43122439C>A | CA460787237 | POMK | c.615C>A (p.Ser205=) c.*411C>A (n.*411C>A) c.333C>A (p.Ser111=) c.*535C>A (n.*535C>A) c.573C>A (p.Ser191=) c.*400C>A (n.*400C>A) | |
| 8 | g.43122439C= | CA1779747408 | POMK | c.615C= (p.Ser205=) c.*411C= (n.*411C=) c.333C= (p.Ser111=) c.*535C= (n.*535C=) c.573C= (p.Ser191=) c.*400C= (n.*400C=) | |
| 8 | g.43122439C>G | CA460787238 | POMK | c.615C>G (p.Ser205=) c.*411C>G (n.*411C>G) c.333C>G (p.Ser111=) c.*535C>G (n.*535C>G) c.573C>G (p.Ser191=) c.*400C>G (n.*400C>G) | |
| 8 | g.43122439C>T | CA4736320 | POMK | c.615C>T (p.Ser205=) c.*411C>T (n.*411C>T) c.333C>T (p.Ser111=) c.*535C>T (n.*535C>T) c.573C>T (p.Ser191=) c.*400C>T (n.*400C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122440A= | CA1779747411 | POMK | c.616A= (p.Asn206=) c.*412A= (n.*412A=) c.334A= (p.Asn112=) c.*536A= (n.*536A=) c.574A= (p.Asn192=) c.*401A= (n.*401A=) | |
| 8 | g.43122440A>C | CA371122293 | POMK | c.616A>C (p.Asn206His) c.*412A>C (n.*412A>C) c.334A>C (p.Asn112His) c.*536A>C (n.*536A>C) c.574A>C (p.Asn192His) c.*401A>C (n.*401A>C) | |
| 8 | g.43122440A>G | CA371122294 | POMK | c.616A>G (p.Asn206Asp) c.*412A>G (n.*412A>G) c.334A>G (p.Asn112Asp) c.*536A>G (n.*536A>G) c.574A>G (p.Asn192Asp) c.*401A>G (n.*401A>G) | dbSNP gnomAD v4 |
| 8 | g.43122440A>T | CA371122295 | POMK | c.616A>T (p.Asn206Tyr) c.*412A>T (n.*412A>T) c.334A>T (p.Asn112Tyr) c.*536A>T (n.*536A>T) c.574A>T (p.Asn192Tyr) c.*401A>T (n.*401A>T) | |
| 8 | g.43122441A= | CA1779747415 | POMK | c.617A= (p.Asn206=) c.*413A= (n.*413A=) c.335A= (p.Asn112=) c.*537A= (n.*537A=) c.575A= (p.Asn192=) c.*402A= (n.*402A=) | |
| 8 | g.43122441A>C | CA371122296 | POMK | c.617A>C (p.Asn206Thr) c.*413A>C (n.*413A>C) c.335A>C (p.Asn112Thr) c.*537A>C (n.*537A>C) c.575A>C (p.Asn192Thr) c.*402A>C (n.*402A>C) | |
| 8 | g.43122441A>G | CA4736321 | POMK | c.617A>G (p.Asn206Ser) c.*413A>G (n.*413A>G) c.335A>G (p.Asn112Ser) c.*537A>G (n.*537A>G) c.575A>G (p.Asn192Ser) c.*402A>G (n.*402A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122441A>T | CA371122297 | POMK | c.617A>T (p.Asn206Ile) c.*413A>T (n.*413A>T) c.335A>T (p.Asn112Ile) c.*537A>T (n.*537A>T) c.575A>T (p.Asn192Ile) c.*402A>T (n.*402A>T) | |
| 8 | g.43122442C>A | CA371122298 | POMK | c.618C>A (p.Asn206Lys) c.*414C>A (n.*414C>A) c.336C>A (p.Asn112Lys) c.*538C>A (n.*538C>A) c.576C>A (p.Asn192Lys) c.*403C>A (n.*403C>A) | gnomAD v4 |
| 8 | g.43122442C= | CA1779747420 | POMK | c.618C= (p.Asn206=) c.*414C= (n.*414C=) c.336C= (p.Asn112=) c.*538C= (n.*538C=) c.576C= (p.Asn192=) c.*403C= (n.*403C=) | |
| 8 | g.43122442C>G | CA371122299 | POMK | c.618C>G (p.Asn206Lys) c.*414C>G (n.*414C>G) c.336C>G (p.Asn112Lys) c.*538C>G (n.*538C>G) c.576C>G (p.Asn192Lys) c.*403C>G (n.*403C>G) | |
| 8 | g.43122442C>T | CA4736322 | POMK | c.618C>T (p.Asn206=) c.*414C>T (n.*414C>T) c.336C>T (p.Asn112=) c.*538C>T (n.*538C>T) c.576C>T (p.Asn192=) c.*403C>T (n.*403C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122443G>A | CA4736323 | POMK | c.619G>A (p.Asp207Asn) c.*415G>A (n.*415G>A) c.337G>A (p.Asp113Asn) c.*539G>A (n.*539G>A) c.577G>A (p.Asp193Asn) c.*404G>A (n.*404G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.43122443G>C | CA371122301 | POMK | c.619G>C (p.Asp207His) c.*415G>C (n.*415G>C) c.337G>C (p.Asp113His) c.*539G>C (n.*539G>C) c.577G>C (p.Asp193His) c.*404G>C (n.*404G>C) | |
| 8 | g.43122443G= | CA1779747428 | POMK | c.619G= (p.Asp207=) c.*415G= (n.*415G=) c.337G= (p.Asp113=) c.*539G= (n.*539G=) c.577G= (p.Asp193=) c.*404G= (n.*404G=) | |
| 8 | g.43122443G>T | CA371122300 | POMK | c.619G>T (p.Asp207Tyr) c.*415G>T (n.*415G>T) c.337G>T (p.Asp113Tyr) c.*539G>T (n.*539G>T) c.577G>T (p.Asp193Tyr) c.*404G>T (n.*404G>T) | |
| 8 | g.43122444A= | CA1779747433 | POMK | c.620A= (p.Asp207=) c.*416A= (n.*416A=) c.338A= (p.Asp113=) c.*540A= (n.*540A=) c.578A= (p.Asp193=) c.*405A= (n.*405A=) | |
| 8 | g.43122444A>C | CA371122302 | POMK | c.620A>C (p.Asp207Ala) c.*416A>C (n.*416A>C) c.338A>C (p.Asp113Ala) c.*540A>C (n.*540A>C) c.578A>C (p.Asp193Ala) c.*405A>C (n.*405A>C) | dbSNP gnomAD v4 |
| 8 | g.43122444A>G | CA4736324 | POMK | c.620A>G (p.Asp207Gly) c.*416A>G (n.*416A>G) c.338A>G (p.Asp113Gly) c.*540A>G (n.*540A>G) c.578A>G (p.Asp193Gly) c.*405A>G (n.*405A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122444A>T | CA371122303 | POMK | c.620A>T (p.Asp207Val) c.*416A>T (n.*416A>T) c.338A>T (p.Asp113Val) c.*540A>T (n.*540A>T) c.578A>T (p.Asp193Val) c.*405A>T (n.*405A>T) | |
| 8 | g.43122445C>A | CA371122304 | POMK | c.621C>A (p.Asp207Glu) c.*417C>A (n.*417C>A) c.339C>A (p.Asp113Glu) c.*541C>A (n.*541C>A) c.579C>A (p.Asp193Glu) c.*406C>A (n.*406C>A) | |
| 8 | g.43122445C= | CA1779747439 | POMK | c.621C= (p.Asp207=) c.*417C= (n.*417C=) c.339C= (p.Asp113=) c.*541C= (n.*541C=) c.579C= (p.Asp193=) c.*406C= (n.*406C=) | |
| 8 | g.43122445C>G | CA371122305 | POMK | c.621C>G (p.Asp207Glu) c.*417C>G (n.*417C>G) c.339C>G (p.Asp113Glu) c.*541C>G (n.*541C>G) c.579C>G (p.Asp193Glu) c.*406C>G (n.*406C>G) | |
| 8 | g.43122445C>T | CA460787239 | POMK | c.621C>T (p.Asp207=) c.*417C>T (n.*417C>T) c.339C>T (p.Asp113=) c.*541C>T (n.*541C>T) c.579C>T (p.Asp193=) c.*406C>T (n.*406C>T) | dbSNP |
| 8 | g.43122447_43122450del | CA2779904272 | POMK | c.623_626del (p.Leu208ArgfsTer9) c.*419_*422del (n.*419_*422del) c.341_344del (p.Leu114ArgfsTer9) c.*543_*546del (n.*543_*546del) c.581_584del (p.Leu194ArgfsTer9) c.*408_*411del (n.*408_*411del) | |
| 8 | g.43122446C>A | CA371122306 | POMK | c.622C>A (p.Leu208Met) c.*418C>A (n.*418C>A) c.340C>A (p.Leu114Met) c.*542C>A (n.*542C>A) c.580C>A (p.Leu194Met) c.*407C>A (n.*407C>A) | |
| 8 | g.43122446C= | CA1779747441 | POMK | c.622C= (p.Leu208=) c.*418C= (n.*418C=) c.340C= (p.Leu114=) c.*542C= (n.*542C=) c.580C= (p.Leu194=) c.*407C= (n.*407C=) | |
| 8 | g.43122446C>G | CA371122307 | POMK | c.622C>G (p.Leu208Val) c.*418C>G (n.*418C>G) c.340C>G (p.Leu114Val) c.*542C>G (n.*542C>G) c.580C>G (p.Leu194Val) c.*407C>G (n.*407C>G) | |
| 8 | g.43122446C>T | CA460787240 | POMK | c.622C>T (p.Leu208=) c.*418C>T (n.*418C>T) c.340C>T (p.Leu114=) c.*542C>T (n.*542C>T) c.580C>T (p.Leu194=) c.*407C>T (n.*407C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.43122447T>A | CA371122308 | POMK | c.623T>A (p.Leu208Gln) c.*419T>A (n.*419T>A) c.341T>A (p.Leu114Gln) c.*543T>A (n.*543T>A) c.581T>A (p.Leu194Gln) c.*408T>A (n.*408T>A) | |
| 8 | g.43122447T>C | CA371122310 | POMK | c.623T>C (p.Leu208Pro) c.*419T>C (n.*419T>C) c.341T>C (p.Leu114Pro) c.*543T>C (n.*543T>C) c.581T>C (p.Leu194Pro) c.*408T>C (n.*408T>C) | |
| 8 | g.43122447T>G | CA371122309 | POMK | c.623T>G (p.Leu208Arg) c.*419T>G (n.*419T>G) c.341T>G (p.Leu114Arg) c.*543T>G (n.*543T>G) c.581T>G (p.Leu194Arg) c.*408T>G (n.*408T>G) | |
| 8 | g.43122448G>A | CA460787241 | POMK | c.624G>A (p.Leu208=) c.*420G>A (n.*420G>A) c.342G>A (p.Leu114=) c.*544G>A (n.*544G>A) c.582G>A (p.Leu194=) c.*409G>A (n.*409G>A) | |
| 8 | g.43122448G>C | CA4736325 | POMK | c.624G>C (p.Leu208=) c.*420G>C (n.*420G>C) c.342G>C (p.Leu114=) c.*544G>C (n.*544G>C) c.582G>C (p.Leu194=) c.*409G>C (n.*409G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122448G= | CA1779747446 | POMK | c.624G= (p.Leu208=) c.*420G= (n.*420G=) c.342G= (p.Leu114=) c.*544G= (n.*544G=) c.582G= (p.Leu194=) c.*409G= (n.*409G=) | |
| 8 | g.43122448G>T | CA460787242 | POMK | c.624G>T (p.Leu208=) c.*420G>T (n.*420G>T) c.342G>T (p.Leu114=) c.*544G>T (n.*544G>T) c.582G>T (p.Leu194=) c.*409G>T (n.*409G>T) | |
| 8 | g.43122449C>A | CA371122311 | POMK | c.625C>A (p.Pro209Thr) c.*421C>A (n.*421C>A) c.343C>A (p.Pro115Thr) c.*545C>A (n.*545C>A) c.583C>A (p.Pro195Thr) c.*410C>A (n.*410C>A) | |
| 8 | g.43122449C= | CA1779747451 | POMK | c.625C= (p.Pro209=) c.*421C= (n.*421C=) c.343C= (p.Pro115=) c.*545C= (n.*545C=) c.583C= (p.Pro195=) c.*410C= (n.*410C=) | |
| 8 | g.43122449C>G | CA371122312 | POMK | c.625C>G (p.Pro209Ala) c.*421C>G (n.*421C>G) c.343C>G (p.Pro115Ala) c.*545C>G (n.*545C>G) c.583C>G (p.Pro195Ala) c.*410C>G (n.*410C>G) | |
| 8 | g.43122449C>T | CA371122313 | POMK | c.625C>T (p.Pro209Ser) c.*421C>T (n.*421C>T) c.343C>T (p.Pro115Ser) c.*545C>T (n.*545C>T) c.583C>T (p.Pro195Ser) c.*410C>T (n.*410C>T) | dbSNP gnomAD v2 |
| 8 | g.43122450C>A | CA371122315 | POMK | c.626C>A (p.Pro209Gln) c.*422C>A (n.*422C>A) c.344C>A (p.Pro115Gln) c.*546C>A (n.*546C>A) c.584C>A (p.Pro195Gln) c.*411C>A (n.*411C>A) | |
| 8 | g.43122450C= | CA1779747453 | POMK | c.626C= (p.Pro209=) c.*422C= (n.*422C=) c.344C= (p.Pro115=) c.*546C= (n.*546C=) c.584C= (p.Pro195=) c.*411C= (n.*411C=) | |
| 8 | g.43122450C>G | CA371122314 | POMK | c.626C>G (p.Pro209Arg) c.*422C>G (n.*422C>G) c.344C>G (p.Pro115Arg) c.*546C>G (n.*546C>G) c.584C>G (p.Pro195Arg) c.*411C>G (n.*411C>G) | |
| 8 | g.43122450C>T | CA4736326 | POMK | c.626C>T (p.Pro209Leu) c.*422C>T (n.*422C>T) c.344C>T (p.Pro115Leu) c.*546C>T (n.*546C>T) c.584C>T (p.Pro195Leu) c.*411C>T (n.*411C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.43122451G>A | CA4736327 | POMK | c.627G>A (p.Pro209=) c.*423G>A (n.*423G>A) c.345G>A (p.Pro115=) c.*547G>A (n.*547G>A) c.585G>A (p.Pro195=) c.*412G>A (n.*412G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.43122451G>C | CA460787243 | POMK | c.627G>C (p.Pro209=) c.*423G>C (n.*423G>C) c.345G>C (p.Pro115=) c.*547G>C (n.*547G>C) c.585G>C (p.Pro195=) c.*412G>C (n.*412G>C) | |
| 8 | g.43122451G= | CA1779747457 | POMK | c.627G= (p.Pro209=) c.*423G= (n.*423G=) c.345G= (p.Pro115=) c.*547G= (n.*547G=) c.585G= (p.Pro195=) c.*412G= (n.*412G=) | |
| 8 | g.43122451G>T | CA460787244 | POMK | c.627G>T (p.Pro209=) c.*423G>T (n.*423G>T) c.345G>T (p.Pro115=) c.*547G>T (n.*547G>T) c.585G>T (p.Pro195=) c.*412G>T (n.*412G>T) | |
| 8 | g.43122452A>C | CA371122316 | POMK | c.628A>C (p.Lys210Gln) c.*424A>C (n.*424A>C) c.346A>C (p.Lys116Gln) c.*548A>C (n.*548A>C) c.586A>C (p.Lys196Gln) c.*413A>C (n.*413A>C) | |
| 8 | g.43122452A>G | CA371122317 | POMK | c.628A>G (p.Lys210Glu) c.*424A>G (n.*424A>G) c.346A>G (p.Lys116Glu) c.*548A>G (n.*548A>G) c.586A>G (p.Lys196Glu) c.*413A>G (n.*413A>G) | gnomAD v4 |
| 8 | g.43122452A>T | CA371122318 | POMK | c.628A>T (p.Lys210Ter) c.*424A>T (n.*424A>T) c.346A>T (p.Lys116Ter) c.*548A>T (n.*548A>T) c.586A>T (p.Lys196Ter) c.*413A>T (n.*413A>T) | |
| 8 | g.43122453A>C | CA371122319 | POMK | c.629A>C (p.Lys210Thr) c.*425A>C (n.*425A>C) c.347A>C (p.Lys116Thr) c.*549A>C (n.*549A>C) c.587A>C (p.Lys196Thr) c.*414A>C (n.*414A>C) | |
| 8 | g.43122453A>G | CA371122320 | POMK | c.629A>G (p.Lys210Arg) c.*425A>G (n.*425A>G) c.347A>G (p.Lys116Arg) c.*549A>G (n.*549A>G) c.587A>G (p.Lys196Arg) c.*414A>G (n.*414A>G) | |
| 8 | g.43122453A>T | CA371122321 | POMK | c.629A>T (p.Lys210Met) c.*425A>T (n.*425A>T) c.347A>T (p.Lys116Met) c.*549A>T (n.*549A>T) c.587A>T (p.Lys196Met) c.*414A>T (n.*414A>T) | |
| 8 | g.43122454G>A | CA460787245 | POMK | c.630G>A (p.Lys210=) c.*426G>A (n.*426G>A) c.348G>A (p.Lys116=) c.*550G>A (n.*550G>A) c.588G>A (p.Lys196=) c.*415G>A (n.*415G>A) | |
| 8 | g.43122454G>C | CA371122322 | POMK | c.630G>C (p.Lys210Asn) c.*426G>C (n.*426G>C) c.348G>C (p.Lys116Asn) c.*550G>C (n.*550G>C) c.588G>C (p.Lys196Asn) c.*415G>C (n.*415G>C) | |
| 8 | g.43122454G>T | CA371122323 | POMK | c.630G>T (p.Lys210Asn) c.*426G>T (n.*426G>T) c.348G>T (p.Lys116Asn) c.*550G>T (n.*550G>T) c.588G>T (p.Lys196Asn) c.*415G>T (n.*415G>T) | COSMIC COSMIC |