Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151405980C>ACA341946159POGZc.3103G>T (p.Glu1035Ter)
c.2896G>T (p.Glu966Ter)
c.3055G>T (p.Glu1019Ter)
c.3076G>T (p.Glu1026Ter)
n.3203G>T
c.2770G>T (p.Glu924Ter)
c.3028G>T (p.Glu1010Ter)
c.2923G>T (p.Glu975Ter)
c.2869G>T (p.Glu957Ter)
c.2947G>T (p.Glu983Ter)
c.2698G>T (p.Glu900Ter)
c.2929G>T (p.Glu977Ter)
c.1855G>T (p.Glu619Ter)
n.2910G>T
1g.151405980C>GCA341946163POGZc.3103G>C (p.Glu1035Gln)
c.2896G>C (p.Glu966Gln)
c.3055G>C (p.Glu1019Gln)
c.3076G>C (p.Glu1026Gln)
n.3203G>C
c.2770G>C (p.Glu924Gln)
c.3028G>C (p.Glu1010Gln)
c.2923G>C (p.Glu975Gln)
c.2869G>C (p.Glu957Gln)
c.2947G>C (p.Glu983Gln)
c.2698G>C (p.Glu900Gln)
c.2929G>C (p.Glu977Gln)
c.1855G>C (p.Glu619Gln)
n.2910G>C
1g.151405980C>TCA341946166POGZc.3103G>A (p.Glu1035Lys)
c.2896G>A (p.Glu966Lys)
c.3055G>A (p.Glu1019Lys)
c.3076G>A (p.Glu1026Lys)
n.3203G>A
c.2770G>A (p.Glu924Lys)
c.3028G>A (p.Glu1010Lys)
c.2923G>A (p.Glu975Lys)
c.2869G>A (p.Glu957Lys)
c.2947G>A (p.Glu983Lys)
c.2698G>A (p.Glu900Lys)
c.2929G>A (p.Glu977Lys)
c.1855G>A (p.Glu619Lys)
n.2910G>A
gnomAD v4
1g.151405981T>ACA420909643POGZc.3102A>T (p.Leu1034=)
c.2895A>T (p.Leu965=)
c.3054A>T (p.Leu1018=)
c.3075A>T (p.Leu1025=)
n.3202A>T
c.2769A>T (p.Leu923=)
c.3027A>T (p.Leu1009=)
c.2922A>T (p.Leu974=)
c.2868A>T (p.Leu956=)
c.2946A>T (p.Leu982=)
c.2697A>T (p.Leu899=)
c.2928A>T (p.Leu976=)
c.1854A>T (p.Leu618=)
n.2909A>T
1g.151405981T>CCA420909644POGZc.3102A>G (p.Leu1034=)
c.2895A>G (p.Leu965=)
c.3054A>G (p.Leu1018=)
c.3075A>G (p.Leu1025=)
n.3202A>G
c.2769A>G (p.Leu923=)
c.3027A>G (p.Leu1009=)
c.2922A>G (p.Leu974=)
c.2868A>G (p.Leu956=)
c.2946A>G (p.Leu982=)
c.2697A>G (p.Leu899=)
c.2928A>G (p.Leu976=)
c.1854A>G (p.Leu618=)
n.2909A>G
1g.151405981T>GCA420909645POGZc.3102A>C (p.Leu1034=)
c.2895A>C (p.Leu965=)
c.3054A>C (p.Leu1018=)
c.3075A>C (p.Leu1025=)
n.3202A>C
c.2769A>C (p.Leu923=)
c.3027A>C (p.Leu1009=)
c.2922A>C (p.Leu974=)
c.2868A>C (p.Leu956=)
c.2946A>C (p.Leu982=)
c.2697A>C (p.Leu899=)
c.2928A>C (p.Leu976=)
c.1854A>C (p.Leu618=)
n.2909A>C
1g.151405982A>CCA341946180POGZc.3101T>G (p.Leu1034Arg)
c.2894T>G (p.Leu965Arg)
c.3053T>G (p.Leu1018Arg)
c.3074T>G (p.Leu1025Arg)
n.3201T>G
c.2768T>G (p.Leu923Arg)
c.3026T>G (p.Leu1009Arg)
c.2921T>G (p.Leu974Arg)
c.2867T>G (p.Leu956Arg)
c.2945T>G (p.Leu982Arg)
c.2696T>G (p.Leu899Arg)
c.2927T>G (p.Leu976Arg)
c.1853T>G (p.Leu618Arg)
n.2908T>G
1g.151405982A>GCA341946183POGZc.3101T>C (p.Leu1034Pro)
c.2894T>C (p.Leu965Pro)
c.3053T>C (p.Leu1018Pro)
c.3074T>C (p.Leu1025Pro)
n.3201T>C
c.2768T>C (p.Leu923Pro)
c.3026T>C (p.Leu1009Pro)
c.2921T>C (p.Leu974Pro)
c.2867T>C (p.Leu956Pro)
c.2945T>C (p.Leu982Pro)
c.2696T>C (p.Leu899Pro)
c.2927T>C (p.Leu976Pro)
c.1853T>C (p.Leu618Pro)
n.2908T>C
gnomAD v4
1g.151405982A>TCA341946187POGZc.3101T>A (p.Leu1034Gln)
c.2894T>A (p.Leu965Gln)
c.3053T>A (p.Leu1018Gln)
c.3074T>A (p.Leu1025Gln)
n.3201T>A
c.2768T>A (p.Leu923Gln)
c.3026T>A (p.Leu1009Gln)
c.2921T>A (p.Leu974Gln)
c.2867T>A (p.Leu956Gln)
c.2945T>A (p.Leu982Gln)
c.2696T>A (p.Leu899Gln)
c.2927T>A (p.Leu976Gln)
c.1853T>A (p.Leu618Gln)
n.2908T>A
1g.151405983G>ACA420909648POGZc.3100C>T (p.Leu1034=)
c.2893C>T (p.Leu965=)
c.3052C>T (p.Leu1018=)
c.3073C>T (p.Leu1025=)
n.3200C>T
c.2767C>T (p.Leu923=)
c.3025C>T (p.Leu1009=)
c.2920C>T (p.Leu974=)
c.2866C>T (p.Leu956=)
c.2944C>T (p.Leu982=)
c.2695C>T (p.Leu899=)
c.2926C>T (p.Leu976=)
c.1852C>T (p.Leu618=)
n.2907C>T
1g.151405983G>CCA341946198POGZc.3100C>G (p.Leu1034Val)
c.2893C>G (p.Leu965Val)
c.3052C>G (p.Leu1018Val)
c.3073C>G (p.Leu1025Val)
n.3200C>G
c.2767C>G (p.Leu923Val)
c.3025C>G (p.Leu1009Val)
c.2920C>G (p.Leu974Val)
c.2866C>G (p.Leu956Val)
c.2944C>G (p.Leu982Val)
c.2695C>G (p.Leu899Val)
c.2926C>G (p.Leu976Val)
c.1852C>G (p.Leu618Val)
n.2907C>G
1g.151405983G>TCA341946202POGZc.3100C>A (p.Leu1034Ile)
c.2893C>A (p.Leu965Ile)
c.3052C>A (p.Leu1018Ile)
c.3073C>A (p.Leu1025Ile)
n.3200C>A
c.2767C>A (p.Leu923Ile)
c.3025C>A (p.Leu1009Ile)
c.2920C>A (p.Leu974Ile)
c.2866C>A (p.Leu956Ile)
c.2944C>A (p.Leu982Ile)
c.2695C>A (p.Leu899Ile)
c.2926C>A (p.Leu976Ile)
c.1852C>A (p.Leu618Ile)
n.2907C>A
1g.151405984A>CCA341946217POGZc.3099T>G (p.Asn1033Lys)
c.2892T>G (p.Asn964Lys)
c.3051T>G (p.Asn1017Lys)
c.3072T>G (p.Asn1024Lys)
n.3199T>G
c.2766T>G (p.Asn922Lys)
c.3024T>G (p.Asn1008Lys)
c.2919T>G (p.Asn973Lys)
c.2865T>G (p.Asn955Lys)
c.2943T>G (p.Asn981Lys)
c.2694T>G (p.Asn898Lys)
c.2925T>G (p.Asn975Lys)
c.1851T>G (p.Asn617Lys)
n.2906T>G
1g.151405984A>GCA420909650POGZc.3099T>C (p.Asn1033=)
c.2892T>C (p.Asn964=)
c.3051T>C (p.Asn1017=)
c.3072T>C (p.Asn1024=)
n.3199T>C
c.2766T>C (p.Asn922=)
c.3024T>C (p.Asn1008=)
c.2919T>C (p.Asn973=)
c.2865T>C (p.Asn955=)
c.2943T>C (p.Asn981=)
c.2694T>C (p.Asn898=)
c.2925T>C (p.Asn975=)
c.1851T>C (p.Asn617=)
n.2906T>C
1g.151405984A>TCA341946223POGZc.3099T>A (p.Asn1033Lys)
c.2892T>A (p.Asn964Lys)
c.3051T>A (p.Asn1017Lys)
c.3072T>A (p.Asn1024Lys)
n.3199T>A
c.2766T>A (p.Asn922Lys)
c.3024T>A (p.Asn1008Lys)
c.2919T>A (p.Asn973Lys)
c.2865T>A (p.Asn955Lys)
c.2943T>A (p.Asn981Lys)
c.2694T>A (p.Asn898Lys)
c.2925T>A (p.Asn975Lys)
c.1851T>A (p.Asn617Lys)
n.2906T>A
1g.151405985T>ACA341946232POGZc.3098A>T (p.Asn1033Ile)
c.2891A>T (p.Asn964Ile)
c.3050A>T (p.Asn1017Ile)
c.3071A>T (p.Asn1024Ile)
n.3198A>T
c.2765A>T (p.Asn922Ile)
c.3023A>T (p.Asn1008Ile)
c.2918A>T (p.Asn973Ile)
c.2864A>T (p.Asn955Ile)
c.2942A>T (p.Asn981Ile)
c.2693A>T (p.Asn898Ile)
c.2924A>T (p.Asn975Ile)
c.1850A>T (p.Asn617Ile)
n.2905A>T
1g.151405985T>CCA341946238POGZc.3098A>G (p.Asn1033Ser)
c.2891A>G (p.Asn964Ser)
c.3050A>G (p.Asn1017Ser)
c.3071A>G (p.Asn1024Ser)
n.3198A>G
c.2765A>G (p.Asn922Ser)
c.3023A>G (p.Asn1008Ser)
c.2918A>G (p.Asn973Ser)
c.2864A>G (p.Asn955Ser)
c.2942A>G (p.Asn981Ser)
c.2693A>G (p.Asn898Ser)
c.2924A>G (p.Asn975Ser)
c.1850A>G (p.Asn617Ser)
n.2905A>G
1g.151405985T>GCA341946241POGZc.3098A>C (p.Asn1033Thr)
c.2891A>C (p.Asn964Thr)
c.3050A>C (p.Asn1017Thr)
c.3071A>C (p.Asn1024Thr)
n.3198A>C
c.2765A>C (p.Asn922Thr)
c.3023A>C (p.Asn1008Thr)
c.2918A>C (p.Asn973Thr)
c.2864A>C (p.Asn955Thr)
c.2942A>C (p.Asn981Thr)
c.2693A>C (p.Asn898Thr)
c.2924A>C (p.Asn975Thr)
c.1850A>C (p.Asn617Thr)
n.2905A>C
1g.151405986T>ACA341946255POGZc.3097A>T (p.Asn1033Tyr)
c.2890A>T (p.Asn964Tyr)
c.3049A>T (p.Asn1017Tyr)
c.3070A>T (p.Asn1024Tyr)
n.3197A>T
c.2764A>T (p.Asn922Tyr)
c.3022A>T (p.Asn1008Tyr)
c.2917A>T (p.Asn973Tyr)
c.2863A>T (p.Asn955Tyr)
c.2941A>T (p.Asn981Tyr)
c.2692A>T (p.Asn898Tyr)
c.2923A>T (p.Asn975Tyr)
c.1849A>T (p.Asn617Tyr)
n.2904A>T
1g.151405986T>CCA341946246POGZc.3097A>G (p.Asn1033Asp)
c.2890A>G (p.Asn964Asp)
c.3049A>G (p.Asn1017Asp)
c.3070A>G (p.Asn1024Asp)
n.3197A>G
c.2764A>G (p.Asn922Asp)
c.3022A>G (p.Asn1008Asp)
c.2917A>G (p.Asn973Asp)
c.2863A>G (p.Asn955Asp)
c.2941A>G (p.Asn981Asp)
c.2692A>G (p.Asn898Asp)
c.2923A>G (p.Asn975Asp)
c.1849A>G (p.Asn617Asp)
n.2904A>G
1g.151405986T>GCA341946250POGZc.3097A>C (p.Asn1033His)
c.2890A>C (p.Asn964His)
c.3049A>C (p.Asn1017His)
c.3070A>C (p.Asn1024His)
n.3197A>C
c.2764A>C (p.Asn922His)
c.3022A>C (p.Asn1008His)
c.2917A>C (p.Asn973His)
c.2863A>C (p.Asn955His)
c.2941A>C (p.Asn981His)
c.2692A>C (p.Asn898His)
c.2923A>C (p.Asn975His)
c.1849A>C (p.Asn617His)
n.2904A>C
1g.151405987C>ACA341946267POGZc.3096G>T (p.Glu1032Asp)
c.2889G>T (p.Glu963Asp)
c.3048G>T (p.Glu1016Asp)
c.3069G>T (p.Glu1023Asp)
n.3196G>T
c.2763G>T (p.Glu921Asp)
c.3021G>T (p.Glu1007Asp)
c.2916G>T (p.Glu972Asp)
c.2862G>T (p.Glu954Asp)
c.2940G>T (p.Glu980Asp)
c.2691G>T (p.Glu897Asp)
c.2922G>T (p.Glu974Asp)
c.1848G>T (p.Glu616Asp)
n.2903G>T
ClinVar dbSNP
1g.151405987C=CA2479570471POGZc.3096G= (p.Glu1032=)
c.2889G= (p.Glu963=)
c.3048G= (p.Glu1016=)
c.3069G= (p.Glu1023=)
n.3196G=
c.2763G= (p.Glu921=)
c.3021G= (p.Glu1007=)
c.2916G= (p.Glu972=)
c.2862G= (p.Glu954=)
c.2940G= (p.Glu980=)
c.2691G= (p.Glu897=)
c.2922G= (p.Glu974=)
c.1848G= (p.Glu616=)
n.2903G=
1g.151405987C>GCA341946270POGZc.3096G>C (p.Glu1032Asp)
c.2889G>C (p.Glu963Asp)
c.3048G>C (p.Glu1016Asp)
c.3069G>C (p.Glu1023Asp)
n.3196G>C
c.2763G>C (p.Glu921Asp)
c.3021G>C (p.Glu1007Asp)
c.2916G>C (p.Glu972Asp)
c.2862G>C (p.Glu954Asp)
c.2940G>C (p.Glu980Asp)
c.2691G>C (p.Glu897Asp)
c.2922G>C (p.Glu974Asp)
c.1848G>C (p.Glu616Asp)
n.2903G>C
1g.151405987C>TCA420909656POGZc.3096G>A (p.Glu1032=)
c.2889G>A (p.Glu963=)
c.3048G>A (p.Glu1016=)
c.3069G>A (p.Glu1023=)
n.3196G>A
c.2763G>A (p.Glu921=)
c.3021G>A (p.Glu1007=)
c.2916G>A (p.Glu972=)
c.2862G>A (p.Glu954=)
c.2940G>A (p.Glu980=)
c.2691G>A (p.Glu897=)
c.2922G>A (p.Glu974=)
c.1848G>A (p.Glu616=)
n.2903G>A
dbSNP
1g.151405988T>ACA341946287POGZc.3095A>T (p.Glu1032Val)
c.2888A>T (p.Glu963Val)
c.3047A>T (p.Glu1016Val)
c.3068A>T (p.Glu1023Val)
n.3195A>T
c.2762A>T (p.Glu921Val)
c.3020A>T (p.Glu1007Val)
c.2915A>T (p.Glu972Val)
c.2861A>T (p.Glu954Val)
c.2939A>T (p.Glu980Val)
c.2690A>T (p.Glu897Val)
c.2921A>T (p.Glu974Val)
c.1847A>T (p.Glu616Val)
n.2902A>T
1g.151405988T>CCA341946292POGZc.3095A>G (p.Glu1032Gly)
c.2888A>G (p.Glu963Gly)
c.3047A>G (p.Glu1016Gly)
c.3068A>G (p.Glu1023Gly)
n.3195A>G
c.2762A>G (p.Glu921Gly)
c.3020A>G (p.Glu1007Gly)
c.2915A>G (p.Glu972Gly)
c.2861A>G (p.Glu954Gly)
c.2939A>G (p.Glu980Gly)
c.2690A>G (p.Glu897Gly)
c.2921A>G (p.Glu974Gly)
c.1847A>G (p.Glu616Gly)
n.2902A>G
1g.151405988T>GCA341946296POGZc.3095A>C (p.Glu1032Ala)
c.2888A>C (p.Glu963Ala)
c.3047A>C (p.Glu1016Ala)
c.3068A>C (p.Glu1023Ala)
n.3195A>C
c.2762A>C (p.Glu921Ala)
c.3020A>C (p.Glu1007Ala)
c.2915A>C (p.Glu972Ala)
c.2861A>C (p.Glu954Ala)
c.2939A>C (p.Glu980Ala)
c.2690A>C (p.Glu897Ala)
c.2921A>C (p.Glu974Ala)
c.1847A>C (p.Glu616Ala)
n.2902A>C
1g.151405989C>ACA341946302POGZc.3094G>T (p.Glu1032Ter)
c.2887G>T (p.Glu963Ter)
c.3046G>T (p.Glu1016Ter)
c.3067G>T (p.Glu1023Ter)
n.3194G>T
c.2761G>T (p.Glu921Ter)
c.3019G>T (p.Glu1007Ter)
c.2914G>T (p.Glu972Ter)
c.2860G>T (p.Glu954Ter)
c.2938G>T (p.Glu980Ter)
c.2689G>T (p.Glu897Ter)
c.2920G>T (p.Glu974Ter)
c.1846G>T (p.Glu616Ter)
n.2901G>T
1g.151405989C>GCA341946303POGZc.3094G>C (p.Glu1032Gln)
c.2887G>C (p.Glu963Gln)
c.3046G>C (p.Glu1016Gln)
c.3067G>C (p.Glu1023Gln)
n.3194G>C
c.2761G>C (p.Glu921Gln)
c.3019G>C (p.Glu1007Gln)
c.2914G>C (p.Glu972Gln)
c.2860G>C (p.Glu954Gln)
c.2938G>C (p.Glu980Gln)
c.2689G>C (p.Glu897Gln)
c.2920G>C (p.Glu974Gln)
c.1846G>C (p.Glu616Gln)
n.2901G>C
1g.151405989C>TCA341946304POGZc.3094G>A (p.Glu1032Lys)
c.2887G>A (p.Glu963Lys)
c.3046G>A (p.Glu1016Lys)
c.3067G>A (p.Glu1023Lys)
n.3194G>A
c.2761G>A (p.Glu921Lys)
c.3019G>A (p.Glu1007Lys)
c.2914G>A (p.Glu972Lys)
c.2860G>A (p.Glu954Lys)
c.2938G>A (p.Glu980Lys)
c.2689G>A (p.Glu897Lys)
c.2920G>A (p.Glu974Lys)
c.1846G>A (p.Glu616Lys)
n.2901G>A
1g.151405993dupCA2580612559POGZc.3094dup (p.Glu1032GlyfsTer11)
c.2887dup (p.Glu963GlyfsTer11)
c.3046dup (p.Glu1016GlyfsTer11)
c.3067dup (p.Glu1023GlyfsTer11)
n.3194dup
c.2761dup (p.Glu921GlyfsTer11)
c.3019dup (p.Glu1007GlyfsTer11)
c.2914dup (p.Glu972GlyfsTer11)
c.2860dup (p.Glu954GlyfsTer11)
c.2938dup (p.Glu980GlyfsTer11)
c.2689dup (p.Glu897GlyfsTer11)
c.2920dup (p.Glu974GlyfsTer11)
c.1846dup (p.Glu616GlyfsTer11)
n.2901dup
ClinVar
1g.151405993delCA420909662POGZc.3094del (p.Glu1032ArgfsTer3)
c.2887del (p.Glu963ArgfsTer3)
c.3046del (p.Glu1016ArgfsTer3)
c.3067del (p.Glu1023ArgfsTer3)
n.3194del
c.2761del (p.Glu921ArgfsTer3)
c.3019del (p.Glu1007ArgfsTer3)
c.2914del (p.Glu972ArgfsTer3)
c.2860del (p.Glu954ArgfsTer3)
c.2938del (p.Glu980ArgfsTer3)
c.2689del (p.Glu897ArgfsTer3)
c.2920del (p.Glu974ArgfsTer3)
c.1846del (p.Glu616ArgfsTer3)
n.2901del
ClinVar COSMIC COSMIC
1g.151405990C>ACA420909664POGZc.3093G>T (p.Gly1031=)
c.2886G>T (p.Gly962=)
c.3045G>T (p.Gly1015=)
c.3066G>T (p.Gly1022=)
n.3193G>T
c.2760G>T (p.Gly920=)
c.3018G>T (p.Gly1006=)
c.2913G>T (p.Gly971=)
c.2859G>T (p.Gly953=)
c.2937G>T (p.Gly979=)
c.2688G>T (p.Gly896=)
c.2919G>T (p.Gly973=)
c.1845G>T (p.Gly615=)
n.2900G>T
gnomAD v4
1g.151405990C=CA2479570472POGZc.3093G= (p.Gly1031=)
c.2886G= (p.Gly962=)
c.3045G= (p.Gly1015=)
c.3066G= (p.Gly1022=)
n.3193G=
c.2760G= (p.Gly920=)
c.3018G= (p.Gly1006=)
c.2913G= (p.Gly971=)
c.2859G= (p.Gly953=)
c.2937G= (p.Gly979=)
c.2688G= (p.Gly896=)
c.2919G= (p.Gly973=)
c.1845G= (p.Gly615=)
n.2900G=
1g.151405990C>GCA420909666POGZc.3093G>C (p.Gly1031=)
c.2886G>C (p.Gly962=)
c.3045G>C (p.Gly1015=)
c.3066G>C (p.Gly1022=)
n.3193G>C
c.2760G>C (p.Gly920=)
c.3018G>C (p.Gly1006=)
c.2913G>C (p.Gly971=)
c.2859G>C (p.Gly953=)
c.2937G>C (p.Gly979=)
c.2688G>C (p.Gly896=)
c.2919G>C (p.Gly973=)
c.1845G>C (p.Gly615=)
n.2900G>C
1g.151405990C>TCA420909668POGZc.3093G>A (p.Gly1031=)
c.2886G>A (p.Gly962=)
c.3045G>A (p.Gly1015=)
c.3066G>A (p.Gly1022=)
n.3193G>A
c.2760G>A (p.Gly920=)
c.3018G>A (p.Gly1006=)
c.2913G>A (p.Gly971=)
c.2859G>A (p.Gly953=)
c.2937G>A (p.Gly979=)
c.2688G>A (p.Gly896=)
c.2919G>A (p.Gly973=)
c.1845G>A (p.Gly615=)
n.2900G>A
dbSNP
1g.151405991C>ACA341946305POGZc.3092G>T (p.Gly1031Val)
c.2885G>T (p.Gly962Val)
c.3044G>T (p.Gly1015Val)
c.3065G>T (p.Gly1022Val)
n.3192G>T
c.2759G>T (p.Gly920Val)
c.3017G>T (p.Gly1006Val)
c.2912G>T (p.Gly971Val)
c.2858G>T (p.Gly953Val)
c.2936G>T (p.Gly979Val)
c.2687G>T (p.Gly896Val)
c.2918G>T (p.Gly973Val)
c.1844G>T (p.Gly615Val)
n.2899G>T
1g.151405991C>GCA341946310POGZc.3092G>C (p.Gly1031Ala)
c.2885G>C (p.Gly962Ala)
c.3044G>C (p.Gly1015Ala)
c.3065G>C (p.Gly1022Ala)
n.3192G>C
c.2759G>C (p.Gly920Ala)
c.3017G>C (p.Gly1006Ala)
c.2912G>C (p.Gly971Ala)
c.2858G>C (p.Gly953Ala)
c.2936G>C (p.Gly979Ala)
c.2687G>C (p.Gly896Ala)
c.2918G>C (p.Gly973Ala)
c.1844G>C (p.Gly615Ala)
n.2899G>C
1g.151405991C>TCA341946322POGZc.3092G>A (p.Gly1031Glu)
c.2885G>A (p.Gly962Glu)
c.3044G>A (p.Gly1015Glu)
c.3065G>A (p.Gly1022Glu)
n.3192G>A
c.2759G>A (p.Gly920Glu)
c.3017G>A (p.Gly1006Glu)
c.2912G>A (p.Gly971Glu)
c.2858G>A (p.Gly953Glu)
c.2936G>A (p.Gly979Glu)
c.2687G>A (p.Gly896Glu)
c.2918G>A (p.Gly973Glu)
c.1844G>A (p.Gly615Glu)
n.2899G>A
1g.151405992C>ACA341946328POGZc.3091G>T (p.Gly1031Trp)
c.2884G>T (p.Gly962Trp)
c.3043G>T (p.Gly1015Trp)
c.3064G>T (p.Gly1022Trp)
n.3191G>T
c.2758G>T (p.Gly920Trp)
c.3016G>T (p.Gly1006Trp)
c.2911G>T (p.Gly971Trp)
c.2857G>T (p.Gly953Trp)
c.2935G>T (p.Gly979Trp)
c.2686G>T (p.Gly896Trp)
c.2917G>T (p.Gly973Trp)
c.1843G>T (p.Gly615Trp)
n.2898G>T
gnomAD v4
1g.151405992C=CA2479570473POGZc.3091G= (p.Gly1031=)
c.2884G= (p.Gly962=)
c.3043G= (p.Gly1015=)
c.3064G= (p.Gly1022=)
n.3191G=
c.2758G= (p.Gly920=)
c.3016G= (p.Gly1006=)
c.2911G= (p.Gly971=)
c.2857G= (p.Gly953=)
c.2935G= (p.Gly979=)
c.2686G= (p.Gly896=)
c.2917G= (p.Gly973=)
c.1843G= (p.Gly615=)
n.2898G=
1g.151405992C>GCA341946340POGZc.3091G>C (p.Gly1031Arg)
c.2884G>C (p.Gly962Arg)
c.3043G>C (p.Gly1015Arg)
c.3064G>C (p.Gly1022Arg)
n.3191G>C
c.2758G>C (p.Gly920Arg)
c.3016G>C (p.Gly1006Arg)
c.2911G>C (p.Gly971Arg)
c.2857G>C (p.Gly953Arg)
c.2935G>C (p.Gly979Arg)
c.2686G>C (p.Gly896Arg)
c.2917G>C (p.Gly973Arg)
c.1843G>C (p.Gly615Arg)
n.2898G>C
1g.151405992C>TCA341946337POGZc.3091G>A (p.Gly1031Arg)
c.2884G>A (p.Gly962Arg)
c.3043G>A (p.Gly1015Arg)
c.3064G>A (p.Gly1022Arg)
n.3191G>A
c.2758G>A (p.Gly920Arg)
c.3016G>A (p.Gly1006Arg)
c.2911G>A (p.Gly971Arg)
c.2857G>A (p.Gly953Arg)
c.2935G>A (p.Gly979Arg)
c.2686G>A (p.Gly896Arg)
c.2917G>A (p.Gly973Arg)
c.1843G>A (p.Gly615Arg)
n.2898G>A
dbSNP gnomAD v4
1g.151405993C>ACA341946341POGZc.3090G>T (p.Gln1030His)
c.2883G>T (p.Gln961His)
c.3042G>T (p.Gln1014His)
c.3063G>T (p.Gln1021His)
n.3190G>T
c.2757G>T (p.Gln919His)
c.3015G>T (p.Gln1005His)
c.2910G>T (p.Gln970His)
c.2856G>T (p.Gln952His)
c.2934G>T (p.Gln978His)
c.2685G>T (p.Gln895His)
c.2916G>T (p.Gln972His)
c.1842G>T (p.Gln614His)
n.2897G>T
COSMIC COSMIC
1g.151405993C>GCA341946342POGZc.3090G>C (p.Gln1030His)
c.2883G>C (p.Gln961His)
c.3042G>C (p.Gln1014His)
c.3063G>C (p.Gln1021His)
n.3190G>C
c.2757G>C (p.Gln919His)
c.3015G>C (p.Gln1005His)
c.2910G>C (p.Gln970His)
c.2856G>C (p.Gln952His)
c.2934G>C (p.Gln978His)
c.2685G>C (p.Gln895His)
c.2916G>C (p.Gln972His)
c.1842G>C (p.Gln614His)
n.2897G>C
1g.151405993C>TCA420909672POGZc.3090G>A (p.Gln1030=)
c.2883G>A (p.Gln961=)
c.3042G>A (p.Gln1014=)
c.3063G>A (p.Gln1021=)
n.3190G>A
c.2757G>A (p.Gln919=)
c.3015G>A (p.Gln1005=)
c.2910G>A (p.Gln970=)
c.2856G>A (p.Gln952=)
c.2934G>A (p.Gln978=)
c.2685G>A (p.Gln895=)
c.2916G>A (p.Gln972=)
c.1842G>A (p.Gln614=)
n.2897G>A
gnomAD v4
1g.151405993_151405994delinsCTCA2479570474POGZc.3089_3090delinsAG (p.Gln1030=)
c.2882_2883delinsAG (p.Gln961=)
c.3041_3042delinsAG (p.Gln1014=)
c.3062_3063delinsAG (p.Gln1021=)
n.3189_3190delinsAG
c.2756_2757delinsAG (p.Gln919=)
c.3014_3015delinsAG (p.Gln1005=)
c.2909_2910delinsAG (p.Gln970=)
c.2855_2856delinsAG (p.Gln952=)
c.2933_2934delinsAG (p.Gln978=)
c.2684_2685delinsAG (p.Gln895=)
c.2915_2916delinsAG (p.Gln972=)
c.1841_1842delinsAG (p.Gln614=)
n.2896_2897delinsAG
1g.151405994delCA319617POGZc.3089del (p.Gln1030ArgfsTer5)
c.2882del (p.Gln961ArgfsTer5)
c.3041del (p.Gln1014ArgfsTer5)
c.3062del (p.Gln1021ArgfsTer5)
n.3189del
c.2756del (p.Gln919ArgfsTer5)
c.3014del (p.Gln1005ArgfsTer5)
c.2909del (p.Gln970ArgfsTer5)
c.2855del (p.Gln952ArgfsTer5)
c.2933del (p.Gln978ArgfsTer5)
c.2684del (p.Gln895ArgfsTer5)
c.2915del (p.Gln972ArgfsTer5)
c.1841del (p.Gln614ArgfsTer5)
n.2896del
ClinVar dbSNP
1g.151405994T>ACA341946345POGZc.3089A>T (p.Gln1030Leu)
c.2882A>T (p.Gln961Leu)
c.3041A>T (p.Gln1014Leu)
c.3062A>T (p.Gln1021Leu)
n.3189A>T
c.2756A>T (p.Gln919Leu)
c.3014A>T (p.Gln1005Leu)
c.2909A>T (p.Gln970Leu)
c.2855A>T (p.Gln952Leu)
c.2933A>T (p.Gln978Leu)
c.2684A>T (p.Gln895Leu)
c.2915A>T (p.Gln972Leu)
c.1841A>T (p.Gln614Leu)
n.2896A>T
1g.151405994T>CCA341946355POGZc.3089A>G (p.Gln1030Arg)
c.2882A>G (p.Gln961Arg)
c.3041A>G (p.Gln1014Arg)
c.3062A>G (p.Gln1021Arg)
n.3189A>G
c.2756A>G (p.Gln919Arg)
c.3014A>G (p.Gln1005Arg)
c.2909A>G (p.Gln970Arg)
c.2855A>G (p.Gln952Arg)
c.2933A>G (p.Gln978Arg)
c.2684A>G (p.Gln895Arg)
c.2915A>G (p.Gln972Arg)
c.1841A>G (p.Gln614Arg)
n.2896A>G
dbSNP
1g.151405994T>GCA341946360POGZc.3089A>C (p.Gln1030Pro)
c.2882A>C (p.Gln961Pro)
c.3041A>C (p.Gln1014Pro)
c.3062A>C (p.Gln1021Pro)
n.3189A>C
c.2756A>C (p.Gln919Pro)
c.3014A>C (p.Gln1005Pro)
c.2909A>C (p.Gln970Pro)
c.2855A>C (p.Gln952Pro)
c.2933A>C (p.Gln978Pro)
c.2684A>C (p.Gln895Pro)
c.2915A>C (p.Gln972Pro)
c.1841A>C (p.Gln614Pro)
n.2896A>C
1g.151405994T=CA2479570475POGZc.3089A= (p.Gln1030=)
c.2882A= (p.Gln961=)
c.3041A= (p.Gln1014=)
c.3062A= (p.Gln1021=)
n.3189A=
c.2756A= (p.Gln919=)
c.3014A= (p.Gln1005=)
c.2909A= (p.Gln970=)
c.2855A= (p.Gln952=)
c.2933A= (p.Gln978=)
c.2684A= (p.Gln895=)
c.2915A= (p.Gln972=)
c.1841A= (p.Gln614=)
n.2896A=
1g.151405995G>ACA341946393POGZc.3088C>T (p.Gln1030Ter)
c.2881C>T (p.Gln961Ter)
c.3040C>T (p.Gln1014Ter)
c.3061C>T (p.Gln1021Ter)
n.3188C>T
c.2755C>T (p.Gln919Ter)
c.3013C>T (p.Gln1005Ter)
c.2908C>T (p.Gln970Ter)
c.2854C>T (p.Gln952Ter)
c.2932C>T (p.Gln978Ter)
c.2683C>T (p.Gln895Ter)
c.2914C>T (p.Gln972Ter)
c.1840C>T (p.Gln614Ter)
n.2895C>T
ClinVar dbSNP
1g.151405995G>CCA341946366POGZc.3088C>G (p.Gln1030Glu)
c.2881C>G (p.Gln961Glu)
c.3040C>G (p.Gln1014Glu)
c.3061C>G (p.Gln1021Glu)
n.3188C>G
c.2755C>G (p.Gln919Glu)
c.3013C>G (p.Gln1005Glu)
c.2908C>G (p.Gln970Glu)
c.2854C>G (p.Gln952Glu)
c.2932C>G (p.Gln978Glu)
c.2683C>G (p.Gln895Glu)
c.2914C>G (p.Gln972Glu)
c.1840C>G (p.Gln614Glu)
n.2895C>G
1g.151405995G>TCA341946404POGZc.3088C>A (p.Gln1030Lys)
c.2881C>A (p.Gln961Lys)
c.3040C>A (p.Gln1014Lys)
c.3061C>A (p.Gln1021Lys)
n.3188C>A
c.2755C>A (p.Gln919Lys)
c.3013C>A (p.Gln1005Lys)
c.2908C>A (p.Gln970Lys)
c.2854C>A (p.Gln952Lys)
c.2932C>A (p.Gln978Lys)
c.2683C>A (p.Gln895Lys)
c.2914C>A (p.Gln972Lys)
c.1840C>A (p.Gln614Lys)
n.2895C>A
1g.151405996G>ACA420909688POGZc.3087C>T (p.Ser1029=)
c.2880C>T (p.Ser960=)
c.3039C>T (p.Ser1013=)
c.3060C>T (p.Ser1020=)
n.3187C>T
c.2754C>T (p.Ser918=)
c.3012C>T (p.Ser1004=)
c.2907C>T (p.Ser969=)
c.2853C>T (p.Ser951=)
c.2931C>T (p.Ser977=)
c.2682C>T (p.Ser894=)
c.2913C>T (p.Ser971=)
c.1839C>T (p.Ser613=)
n.2894C>T
1g.151405996G>CCA420909686POGZc.3087C>G (p.Ser1029=)
c.2880C>G (p.Ser960=)
c.3039C>G (p.Ser1013=)
c.3060C>G (p.Ser1020=)
n.3187C>G
c.2754C>G (p.Ser918=)
c.3012C>G (p.Ser1004=)
c.2907C>G (p.Ser969=)
c.2853C>G (p.Ser951=)
c.2931C>G (p.Ser977=)
c.2682C>G (p.Ser894=)
c.2913C>G (p.Ser971=)
c.1839C>G (p.Ser613=)
n.2894C>G
1g.151405996G>TCA420909685POGZc.3087C>A (p.Ser1029=)
c.2880C>A (p.Ser960=)
c.3039C>A (p.Ser1013=)
c.3060C>A (p.Ser1020=)
n.3187C>A
c.2754C>A (p.Ser918=)
c.3012C>A (p.Ser1004=)
c.2907C>A (p.Ser969=)
c.2853C>A (p.Ser951=)
c.2931C>A (p.Ser977=)
c.2682C>A (p.Ser894=)
c.2913C>A (p.Ser971=)
c.1839C>A (p.Ser613=)
n.2894C>A
1g.151405997G>ACA341946424POGZc.3086C>T (p.Ser1029Phe)
c.2879C>T (p.Ser960Phe)
c.3038C>T (p.Ser1013Phe)
c.3059C>T (p.Ser1020Phe)
n.3186C>T
c.2753C>T (p.Ser918Phe)
c.3011C>T (p.Ser1004Phe)
c.2906C>T (p.Ser969Phe)
c.2852C>T (p.Ser951Phe)
c.2930C>T (p.Ser977Phe)
c.2681C>T (p.Ser894Phe)
c.2912C>T (p.Ser971Phe)
c.1838C>T (p.Ser613Phe)
n.2893C>T
1g.151405997G>CCA341946428POGZc.3086C>G (p.Ser1029Cys)
c.2879C>G (p.Ser960Cys)
c.3038C>G (p.Ser1013Cys)
c.3059C>G (p.Ser1020Cys)
n.3186C>G
c.2753C>G (p.Ser918Cys)
c.3011C>G (p.Ser1004Cys)
c.2906C>G (p.Ser969Cys)
c.2852C>G (p.Ser951Cys)
c.2930C>G (p.Ser977Cys)
c.2681C>G (p.Ser894Cys)
c.2912C>G (p.Ser971Cys)
c.1838C>G (p.Ser613Cys)
n.2893C>G
dbSNP gnomAD v2 gnomAD v4
1g.151405997G=CA2479570476POGZc.3086C= (p.Ser1029=)
c.2879C= (p.Ser960=)
c.3038C= (p.Ser1013=)
c.3059C= (p.Ser1020=)
n.3186C=
c.2753C= (p.Ser918=)
c.3011C= (p.Ser1004=)
c.2906C= (p.Ser969=)
c.2852C= (p.Ser951=)
c.2930C= (p.Ser977=)
c.2681C= (p.Ser894=)
c.2912C= (p.Ser971=)
c.1838C= (p.Ser613=)
n.2893C=
1g.151405997G>TCA341946427POGZc.3086C>A (p.Ser1029Tyr)
c.2879C>A (p.Ser960Tyr)
c.3038C>A (p.Ser1013Tyr)
c.3059C>A (p.Ser1020Tyr)
n.3186C>A
c.2753C>A (p.Ser918Tyr)
c.3011C>A (p.Ser1004Tyr)
c.2906C>A (p.Ser969Tyr)
c.2852C>A (p.Ser951Tyr)
c.2930C>A (p.Ser977Tyr)
c.2681C>A (p.Ser894Tyr)
c.2912C>A (p.Ser971Tyr)
c.1838C>A (p.Ser613Tyr)
n.2893C>A
1g.151405998A>CCA341946429POGZc.3085T>G (p.Ser1029Ala)
c.2878T>G (p.Ser960Ala)
c.3037T>G (p.Ser1013Ala)
c.3058T>G (p.Ser1020Ala)
n.3185T>G
c.2752T>G (p.Ser918Ala)
c.3010T>G (p.Ser1004Ala)
c.2905T>G (p.Ser969Ala)
c.2851T>G (p.Ser951Ala)
c.2929T>G (p.Ser977Ala)
c.2680T>G (p.Ser894Ala)
c.2911T>G (p.Ser971Ala)
c.1837T>G (p.Ser613Ala)
n.2892T>G
1g.151405998A>GCA341946430POGZc.3085T>C (p.Ser1029Pro)
c.2878T>C (p.Ser960Pro)
c.3037T>C (p.Ser1013Pro)
c.3058T>C (p.Ser1020Pro)
n.3185T>C
c.2752T>C (p.Ser918Pro)
c.3010T>C (p.Ser1004Pro)
c.2905T>C (p.Ser969Pro)
c.2851T>C (p.Ser951Pro)
c.2929T>C (p.Ser977Pro)
c.2680T>C (p.Ser894Pro)
c.2911T>C (p.Ser971Pro)
c.1837T>C (p.Ser613Pro)
n.2892T>C
1g.151405998A>TCA341946434POGZc.3085T>A (p.Ser1029Thr)
c.2878T>A (p.Ser960Thr)
c.3037T>A (p.Ser1013Thr)
c.3058T>A (p.Ser1020Thr)
n.3185T>A
c.2752T>A (p.Ser918Thr)
c.3010T>A (p.Ser1004Thr)
c.2905T>A (p.Ser969Thr)
c.2851T>A (p.Ser951Thr)
c.2929T>A (p.Ser977Thr)
c.2680T>A (p.Ser894Thr)
c.2911T>A (p.Ser971Thr)
c.1837T>A (p.Ser613Thr)
n.2892T>A
1g.151405999G>ACA1091015POGZc.3084C>T (p.Ala1028=)
c.2877C>T (p.Ala959=)
c.3036C>T (p.Ala1012=)
c.3057C>T (p.Ala1019=)
n.3184C>T
c.2751C>T (p.Ala917=)
c.3009C>T (p.Ala1003=)
c.2904C>T (p.Ala968=)
c.2850C>T (p.Ala950=)
c.2928C>T (p.Ala976=)
c.2679C>T (p.Ala893=)
c.2910C>T (p.Ala970=)
c.1836C>T (p.Ala612=)
n.2891C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151405999G>CCA420909692POGZc.3084C>G (p.Ala1028=)
c.2877C>G (p.Ala959=)
c.3036C>G (p.Ala1012=)
c.3057C>G (p.Ala1019=)
n.3184C>G
c.2751C>G (p.Ala917=)
c.3009C>G (p.Ala1003=)
c.2904C>G (p.Ala968=)
c.2850C>G (p.Ala950=)
c.2928C>G (p.Ala976=)
c.2679C>G (p.Ala893=)
c.2910C>G (p.Ala970=)
c.1836C>G (p.Ala612=)
n.2891C>G
1g.151405999G=CA2479570477POGZc.3084C= (p.Ala1028=)
c.2877C= (p.Ala959=)
c.3036C= (p.Ala1012=)
c.3057C= (p.Ala1019=)
n.3184C=
c.2751C= (p.Ala917=)
c.3009C= (p.Ala1003=)
c.2904C= (p.Ala968=)
c.2850C= (p.Ala950=)
c.2928C= (p.Ala976=)
c.2679C= (p.Ala893=)
c.2910C= (p.Ala970=)
c.1836C= (p.Ala612=)
n.2891C=
1g.151405999G>TCA420909694POGZc.3084C>A (p.Ala1028=)
c.2877C>A (p.Ala959=)
c.3036C>A (p.Ala1012=)
c.3057C>A (p.Ala1019=)
n.3184C>A
c.2751C>A (p.Ala917=)
c.3009C>A (p.Ala1003=)
c.2904C>A (p.Ala968=)
c.2850C>A (p.Ala950=)
c.2928C>A (p.Ala976=)
c.2679C>A (p.Ala893=)
c.2910C>A (p.Ala970=)
c.1836C>A (p.Ala612=)
n.2891C>A
1g.151406000G>ACA341946442POGZc.3083C>T (p.Ala1028Val)
c.2876C>T (p.Ala959Val)
c.3035C>T (p.Ala1012Val)
c.3056C>T (p.Ala1019Val)
n.3183C>T
c.2750C>T (p.Ala917Val)
c.3008C>T (p.Ala1003Val)
c.2903C>T (p.Ala968Val)
c.2849C>T (p.Ala950Val)
c.2927C>T (p.Ala976Val)
c.2678C>T (p.Ala893Val)
c.2909C>T (p.Ala970Val)
c.1835C>T (p.Ala612Val)
n.2890C>T
1g.151406000G>CCA341946447POGZc.3083C>G (p.Ala1028Gly)
c.2876C>G (p.Ala959Gly)
c.3035C>G (p.Ala1012Gly)
c.3056C>G (p.Ala1019Gly)
n.3183C>G
c.2750C>G (p.Ala917Gly)
c.3008C>G (p.Ala1003Gly)
c.2903C>G (p.Ala968Gly)
c.2849C>G (p.Ala950Gly)
c.2927C>G (p.Ala976Gly)
c.2678C>G (p.Ala893Gly)
c.2909C>G (p.Ala970Gly)
c.1835C>G (p.Ala612Gly)
n.2890C>G
1g.151406000G>TCA341946451POGZc.3083C>A (p.Ala1028Asp)
c.2876C>A (p.Ala959Asp)
c.3035C>A (p.Ala1012Asp)
c.3056C>A (p.Ala1019Asp)
n.3183C>A
c.2750C>A (p.Ala917Asp)
c.3008C>A (p.Ala1003Asp)
c.2903C>A (p.Ala968Asp)
c.2849C>A (p.Ala950Asp)
c.2927C>A (p.Ala976Asp)
c.2678C>A (p.Ala893Asp)
c.2909C>A (p.Ala970Asp)
c.1835C>A (p.Ala612Asp)
n.2890C>A
gnomAD v4
1g.151406001C>ACA341946458POGZc.3082G>T (p.Ala1028Ser)
c.2875G>T (p.Ala959Ser)
c.3034G>T (p.Ala1012Ser)
c.3055G>T (p.Ala1019Ser)
n.3182G>T
c.2749G>T (p.Ala917Ser)
c.3007G>T (p.Ala1003Ser)
c.2902G>T (p.Ala968Ser)
c.2848G>T (p.Ala950Ser)
c.2926G>T (p.Ala976Ser)
c.2677G>T (p.Ala893Ser)
c.2908G>T (p.Ala970Ser)
c.1834G>T (p.Ala612Ser)
n.2889G>T
1g.151406001C=CA2479570478POGZc.3082G= (p.Ala1028=)
c.2875G= (p.Ala959=)
c.3034G= (p.Ala1012=)
c.3055G= (p.Ala1019=)
n.3182G=
c.2749G= (p.Ala917=)
c.3007G= (p.Ala1003=)
c.2902G= (p.Ala968=)
c.2848G= (p.Ala950=)
c.2926G= (p.Ala976=)
c.2677G= (p.Ala893=)
c.2908G= (p.Ala970=)
c.1834G= (p.Ala612=)
n.2889G=
1g.151406001C>GCA341946466POGZc.3082G>C (p.Ala1028Pro)
c.2875G>C (p.Ala959Pro)
c.3034G>C (p.Ala1012Pro)
c.3055G>C (p.Ala1019Pro)
n.3182G>C
c.2749G>C (p.Ala917Pro)
c.3007G>C (p.Ala1003Pro)
c.2902G>C (p.Ala968Pro)
c.2848G>C (p.Ala950Pro)
c.2926G>C (p.Ala976Pro)
c.2677G>C (p.Ala893Pro)
c.2908G>C (p.Ala970Pro)
c.1834G>C (p.Ala612Pro)
n.2889G>C
1g.151406001C>TCA1091016POGZc.3082G>A (p.Ala1028Thr)
c.2875G>A (p.Ala959Thr)
c.3034G>A (p.Ala1012Thr)
c.3055G>A (p.Ala1019Thr)
n.3182G>A
c.2749G>A (p.Ala917Thr)
c.3007G>A (p.Ala1003Thr)
c.2902G>A (p.Ala968Thr)
c.2848G>A (p.Ala950Thr)
c.2926G>A (p.Ala976Thr)
c.2677G>A (p.Ala893Thr)
c.2908G>A (p.Ala970Thr)
c.1834G>A (p.Ala612Thr)
n.2889G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406002C>ACA341946493POGZc.3081G>T (p.Gln1027His)
c.2874G>T (p.Gln958His)
c.3033G>T (p.Gln1011His)
c.3054G>T (p.Gln1018His)
n.3181G>T
c.2748G>T (p.Gln916His)
c.3006G>T (p.Gln1002His)
c.2901G>T (p.Gln967His)
c.2847G>T (p.Gln949His)
c.2925G>T (p.Gln975His)
c.2676G>T (p.Gln892His)
c.2907G>T (p.Gln969His)
c.1833G>T (p.Gln611His)
n.2888G>T
1g.151406002C>GCA341946495POGZc.3081G>C (p.Gln1027His)
c.2874G>C (p.Gln958His)
c.3033G>C (p.Gln1011His)
c.3054G>C (p.Gln1018His)
n.3181G>C
c.2748G>C (p.Gln916His)
c.3006G>C (p.Gln1002His)
c.2901G>C (p.Gln967His)
c.2847G>C (p.Gln949His)
c.2925G>C (p.Gln975His)
c.2676G>C (p.Gln892His)
c.2907G>C (p.Gln969His)
c.1833G>C (p.Gln611His)
n.2888G>C
1g.151406002C>TCA420909702POGZc.3081G>A (p.Gln1027=)
c.2874G>A (p.Gln958=)
c.3033G>A (p.Gln1011=)
c.3054G>A (p.Gln1018=)
n.3181G>A
c.2748G>A (p.Gln916=)
c.3006G>A (p.Gln1002=)
c.2901G>A (p.Gln967=)
c.2847G>A (p.Gln949=)
c.2925G>A (p.Gln975=)
c.2676G>A (p.Gln892=)
c.2907G>A (p.Gln969=)
c.1833G>A (p.Gln611=)
n.2888G>A
1g.151406003T>ACA341946502POGZc.3080A>T (p.Gln1027Leu)
c.2873A>T (p.Gln958Leu)
c.3032A>T (p.Gln1011Leu)
c.3053A>T (p.Gln1018Leu)
n.3180A>T
c.2747A>T (p.Gln916Leu)
c.3005A>T (p.Gln1002Leu)
c.2900A>T (p.Gln967Leu)
c.2846A>T (p.Gln949Leu)
c.2924A>T (p.Gln975Leu)
c.2675A>T (p.Gln892Leu)
c.2906A>T (p.Gln969Leu)
c.1832A>T (p.Gln611Leu)
n.2887A>T
1g.151406003T>CCA341946497POGZc.3080A>G (p.Gln1027Arg)
c.2873A>G (p.Gln958Arg)
c.3032A>G (p.Gln1011Arg)
c.3053A>G (p.Gln1018Arg)
n.3180A>G
c.2747A>G (p.Gln916Arg)
c.3005A>G (p.Gln1002Arg)
c.2900A>G (p.Gln967Arg)
c.2846A>G (p.Gln949Arg)
c.2924A>G (p.Gln975Arg)
c.2675A>G (p.Gln892Arg)
c.2906A>G (p.Gln969Arg)
c.1832A>G (p.Gln611Arg)
n.2887A>G
ClinVar dbSNP gnomAD v4
1g.151406003T>GCA341946501POGZc.3080A>C (p.Gln1027Pro)
c.2873A>C (p.Gln958Pro)
c.3032A>C (p.Gln1011Pro)
c.3053A>C (p.Gln1018Pro)
n.3180A>C
c.2747A>C (p.Gln916Pro)
c.3005A>C (p.Gln1002Pro)
c.2900A>C (p.Gln967Pro)
c.2846A>C (p.Gln949Pro)
c.2924A>C (p.Gln975Pro)
c.2675A>C (p.Gln892Pro)
c.2906A>C (p.Gln969Pro)
c.1832A>C (p.Gln611Pro)
n.2887A>C
1g.151406003T=CA2479570479POGZc.3080A= (p.Gln1027=)
c.2873A= (p.Gln958=)
c.3032A= (p.Gln1011=)
c.3053A= (p.Gln1018=)
n.3180A=
c.2747A= (p.Gln916=)
c.3005A= (p.Gln1002=)
c.2900A= (p.Gln967=)
c.2846A= (p.Gln949=)
c.2924A= (p.Gln975=)
c.2675A= (p.Gln892=)
c.2906A= (p.Gln969=)
c.1832A= (p.Gln611=)
n.2887A=
1g.151406004G>ACA319613POGZc.3079C>T (p.Gln1027Ter)
c.2872C>T (p.Gln958Ter)
c.3031C>T (p.Gln1011Ter)
c.3052C>T (p.Gln1018Ter)
n.3179C>T
c.2746C>T (p.Gln916Ter)
c.3004C>T (p.Gln1002Ter)
c.2899C>T (p.Gln967Ter)
c.2845C>T (p.Gln949Ter)
c.2923C>T (p.Gln975Ter)
c.2674C>T (p.Gln892Ter)
c.2905C>T (p.Gln969Ter)
c.1831C>T (p.Gln611Ter)
n.2886C>T
dbSNP
1g.151406004G>CCA341946505POGZc.3079C>G (p.Gln1027Glu)
c.2872C>G (p.Gln958Glu)
c.3031C>G (p.Gln1011Glu)
c.3052C>G (p.Gln1018Glu)
n.3179C>G
c.2746C>G (p.Gln916Glu)
c.3004C>G (p.Gln1002Glu)
c.2899C>G (p.Gln967Glu)
c.2845C>G (p.Gln949Glu)
c.2923C>G (p.Gln975Glu)
c.2674C>G (p.Gln892Glu)
c.2905C>G (p.Gln969Glu)
c.1831C>G (p.Gln611Glu)
n.2886C>G
1g.151406004G=CA2479570480POGZc.3079C= (p.Gln1027=)
c.2872C= (p.Gln958=)
c.3031C= (p.Gln1011=)
c.3052C= (p.Gln1018=)
n.3179C=
c.2746C= (p.Gln916=)
c.3004C= (p.Gln1002=)
c.2899C= (p.Gln967=)
c.2845C= (p.Gln949=)
c.2923C= (p.Gln975=)
c.2674C= (p.Gln892=)
c.2905C= (p.Gln969=)
c.1831C= (p.Gln611=)
n.2886C=
1g.151406004G>TCA341946508POGZc.3079C>A (p.Gln1027Lys)
c.2872C>A (p.Gln958Lys)
c.3031C>A (p.Gln1011Lys)
c.3052C>A (p.Gln1018Lys)
n.3179C>A
c.2746C>A (p.Gln916Lys)
c.3004C>A (p.Gln1002Lys)
c.2899C>A (p.Gln967Lys)
c.2845C>A (p.Gln949Lys)
c.2923C>A (p.Gln975Lys)
c.2674C>A (p.Gln892Lys)
c.2905C>A (p.Gln969Lys)
c.1831C>A (p.Gln611Lys)
n.2886C>A
1g.151406005G>ACA420909709POGZc.3078C>T (p.Phe1026=)
c.2871C>T (p.Phe957=)
c.3030C>T (p.Phe1010=)
c.3051C>T (p.Phe1017=)
n.3178C>T
c.2745C>T (p.Phe915=)
c.3003C>T (p.Phe1001=)
c.2898C>T (p.Phe966=)
c.2844C>T (p.Phe948=)
c.2922C>T (p.Phe974=)
c.2673C>T (p.Phe891=)
c.2904C>T (p.Phe968=)
c.1830C>T (p.Phe610=)
n.2885C>T
1g.151406005G>CCA341946519POGZc.3078C>G (p.Phe1026Leu)
c.2871C>G (p.Phe957Leu)
c.3030C>G (p.Phe1010Leu)
c.3051C>G (p.Phe1017Leu)
n.3178C>G
c.2745C>G (p.Phe915Leu)
c.3003C>G (p.Phe1001Leu)
c.2898C>G (p.Phe966Leu)
c.2844C>G (p.Phe948Leu)
c.2922C>G (p.Phe974Leu)
c.2673C>G (p.Phe891Leu)
c.2904C>G (p.Phe968Leu)
c.1830C>G (p.Phe610Leu)
n.2885C>G
1g.151406005G>TCA341946523POGZc.3078C>A (p.Phe1026Leu)
c.2871C>A (p.Phe957Leu)
c.3030C>A (p.Phe1010Leu)
c.3051C>A (p.Phe1017Leu)
n.3178C>A
c.2745C>A (p.Phe915Leu)
c.3003C>A (p.Phe1001Leu)
c.2898C>A (p.Phe966Leu)
c.2844C>A (p.Phe948Leu)
c.2922C>A (p.Phe974Leu)
c.2673C>A (p.Phe891Leu)
c.2904C>A (p.Phe968Leu)
c.1830C>A (p.Phe610Leu)
n.2885C>A
1g.151406006A=CA2479570481POGZc.3077T= (p.Phe1026=)
c.2870T= (p.Phe957=)
c.3029T= (p.Phe1010=)
c.3050T= (p.Phe1017=)
n.3177T=
c.2744T= (p.Phe915=)
c.3002T= (p.Phe1001=)
c.2897T= (p.Phe966=)
c.2843T= (p.Phe948=)
c.2921T= (p.Phe974=)
c.2672T= (p.Phe891=)
c.2903T= (p.Phe968=)
c.1829T= (p.Phe610=)
n.2884T=
1g.151406006A>CCA341946541POGZc.3077T>G (p.Phe1026Cys)
c.2870T>G (p.Phe957Cys)
c.3029T>G (p.Phe1010Cys)
c.3050T>G (p.Phe1017Cys)
n.3177T>G
c.2744T>G (p.Phe915Cys)
c.3002T>G (p.Phe1001Cys)
c.2897T>G (p.Phe966Cys)
c.2843T>G (p.Phe948Cys)
c.2921T>G (p.Phe974Cys)
c.2672T>G (p.Phe891Cys)
c.2903T>G (p.Phe968Cys)
c.1829T>G (p.Phe610Cys)
n.2884T>G
1g.151406006A>GCA341946542POGZc.3077T>C (p.Phe1026Ser)
c.2870T>C (p.Phe957Ser)
c.3029T>C (p.Phe1010Ser)
c.3050T>C (p.Phe1017Ser)
n.3177T>C
c.2744T>C (p.Phe915Ser)
c.3002T>C (p.Phe1001Ser)
c.2897T>C (p.Phe966Ser)
c.2843T>C (p.Phe948Ser)
c.2921T>C (p.Phe974Ser)
c.2672T>C (p.Phe891Ser)
c.2903T>C (p.Phe968Ser)
c.1829T>C (p.Phe610Ser)
n.2884T>C
1g.151406006A>TCA341946543POGZc.3077T>A (p.Phe1026Tyr)
c.2870T>A (p.Phe957Tyr)
c.3029T>A (p.Phe1010Tyr)
c.3050T>A (p.Phe1017Tyr)
n.3177T>A
c.2744T>A (p.Phe915Tyr)
c.3002T>A (p.Phe1001Tyr)
c.2897T>A (p.Phe966Tyr)
c.2843T>A (p.Phe948Tyr)
c.2921T>A (p.Phe974Tyr)
c.2672T>A (p.Phe891Tyr)
c.2903T>A (p.Phe968Tyr)
c.1829T>A (p.Phe610Tyr)
n.2884T>A
dbSNP gnomAD v2 gnomAD v4
1g.151406007A>CCA341946544POGZc.3076T>G (p.Phe1026Val)
c.2869T>G (p.Phe957Val)
c.3028T>G (p.Phe1010Val)
c.3049T>G (p.Phe1017Val)
n.3176T>G
c.2743T>G (p.Phe915Val)
c.3001T>G (p.Phe1001Val)
c.2896T>G (p.Phe966Val)
c.2842T>G (p.Phe948Val)
c.2920T>G (p.Phe974Val)
c.2671T>G (p.Phe891Val)
c.2902T>G (p.Phe968Val)
c.1828T>G (p.Phe610Val)
n.2883T>G
1g.151406007A>GCA341946547POGZc.3076T>C (p.Phe1026Leu)
c.2869T>C (p.Phe957Leu)
c.3028T>C (p.Phe1010Leu)
c.3049T>C (p.Phe1017Leu)
n.3176T>C
c.2743T>C (p.Phe915Leu)
c.3001T>C (p.Phe1001Leu)
c.2896T>C (p.Phe966Leu)
c.2842T>C (p.Phe948Leu)
c.2920T>C (p.Phe974Leu)
c.2671T>C (p.Phe891Leu)
c.2902T>C (p.Phe968Leu)
c.1828T>C (p.Phe610Leu)
n.2883T>C
1g.151406007A>TCA341946551POGZc.3076T>A (p.Phe1026Ile)
c.2869T>A (p.Phe957Ile)
c.3028T>A (p.Phe1010Ile)
c.3049T>A (p.Phe1017Ile)
n.3176T>A
c.2743T>A (p.Phe915Ile)
c.3001T>A (p.Phe1001Ile)
c.2896T>A (p.Phe966Ile)
c.2842T>A (p.Phe948Ile)
c.2920T>A (p.Phe974Ile)
c.2671T>A (p.Phe891Ile)
c.2902T>A (p.Phe968Ile)
c.1828T>A (p.Phe610Ile)
n.2883T>A
1g.151406008A>CCA420909715POGZc.3075T>G (p.Arg1025=)
c.2868T>G (p.Arg956=)
c.3027T>G (p.Arg1009=)
c.3048T>G (p.Arg1016=)
n.3175T>G
c.2742T>G (p.Arg914=)
c.3000T>G (p.Arg1000=)
c.2895T>G (p.Arg965=)
c.2841T>G (p.Arg947=)
c.2919T>G (p.Arg973=)
c.2670T>G (p.Arg890=)
c.2901T>G (p.Arg967=)
c.1827T>G (p.Arg609=)
n.2882T>G
1g.151406008A>GCA420909716POGZc.3075T>C (p.Arg1025=)
c.2868T>C (p.Arg956=)
c.3027T>C (p.Arg1009=)
c.3048T>C (p.Arg1016=)
n.3175T>C
c.2742T>C (p.Arg914=)
c.3000T>C (p.Arg1000=)
c.2895T>C (p.Arg965=)
c.2841T>C (p.Arg947=)
c.2919T>C (p.Arg973=)
c.2670T>C (p.Arg890=)
c.2901T>C (p.Arg967=)
c.1827T>C (p.Arg609=)
n.2882T>C
1g.151406008A>TCA420909717POGZc.3075T>A (p.Arg1025=)
c.2868T>A (p.Arg956=)
c.3027T>A (p.Arg1009=)
c.3048T>A (p.Arg1016=)
n.3175T>A
c.2742T>A (p.Arg914=)
c.3000T>A (p.Arg1000=)
c.2895T>A (p.Arg965=)
c.2841T>A (p.Arg947=)
c.2919T>A (p.Arg973=)
c.2670T>A (p.Arg890=)
c.2901T>A (p.Arg967=)
c.1827T>A (p.Arg609=)
n.2882T>A
1g.151406009C>ACA341946568POGZc.3074G>T (p.Arg1025Leu)
c.2867G>T (p.Arg956Leu)
c.3026G>T (p.Arg1009Leu)
c.3047G>T (p.Arg1016Leu)
n.3174G>T
c.2741G>T (p.Arg914Leu)
c.2999G>T (p.Arg1000Leu)
c.2894G>T (p.Arg965Leu)
c.2840G>T (p.Arg947Leu)
c.2918G>T (p.Arg973Leu)
c.2669G>T (p.Arg890Leu)
c.2900G>T (p.Arg967Leu)
c.1826G>T (p.Arg609Leu)
n.2881G>T
1g.151406009C=CA2479570482POGZc.3074G= (p.Arg1025=)
c.2867G= (p.Arg956=)
c.3026G= (p.Arg1009=)
c.3047G= (p.Arg1016=)
n.3174G=
c.2741G= (p.Arg914=)
c.2999G= (p.Arg1000=)
c.2894G= (p.Arg965=)
c.2840G= (p.Arg947=)
c.2918G= (p.Arg973=)
c.2669G= (p.Arg890=)
c.2900G= (p.Arg967=)
c.1826G= (p.Arg609=)
n.2881G=
1g.151406009C>GCA341946563POGZc.3074G>C (p.Arg1025Pro)
c.2867G>C (p.Arg956Pro)
c.3026G>C (p.Arg1009Pro)
c.3047G>C (p.Arg1016Pro)
n.3174G>C
c.2741G>C (p.Arg914Pro)
c.2999G>C (p.Arg1000Pro)
c.2894G>C (p.Arg965Pro)
c.2840G>C (p.Arg947Pro)
c.2918G>C (p.Arg973Pro)
c.2669G>C (p.Arg890Pro)
c.2900G>C (p.Arg967Pro)
c.1826G>C (p.Arg609Pro)
n.2881G>C
1g.151406009C>TCA341946560POGZc.3074G>A (p.Arg1025His)
c.2867G>A (p.Arg956His)
c.3026G>A (p.Arg1009His)
c.3047G>A (p.Arg1016His)
n.3174G>A
c.2741G>A (p.Arg914His)
c.2999G>A (p.Arg1000His)
c.2894G>A (p.Arg965His)
c.2840G>A (p.Arg947His)
c.2918G>A (p.Arg973His)
c.2669G>A (p.Arg890His)
c.2900G>A (p.Arg967His)
c.1826G>A (p.Arg609His)
n.2881G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406010G>ACA1091017POGZc.3073C>T (p.Arg1025Cys)
c.2866C>T (p.Arg956Cys)
c.3025C>T (p.Arg1009Cys)
c.3046C>T (p.Arg1016Cys)
n.3173C>T
c.2740C>T (p.Arg914Cys)
c.2998C>T (p.Arg1000Cys)
c.2893C>T (p.Arg965Cys)
c.2839C>T (p.Arg947Cys)
c.2917C>T (p.Arg973Cys)
c.2668C>T (p.Arg890Cys)
c.2899C>T (p.Arg967Cys)
c.1825C>T (p.Arg609Cys)
n.2880C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406010G>CCA341946578POGZc.3073C>G (p.Arg1025Gly)
c.2866C>G (p.Arg956Gly)
c.3025C>G (p.Arg1009Gly)
c.3046C>G (p.Arg1016Gly)
n.3173C>G
c.2740C>G (p.Arg914Gly)
c.2998C>G (p.Arg1000Gly)
c.2893C>G (p.Arg965Gly)
c.2839C>G (p.Arg947Gly)
c.2917C>G (p.Arg973Gly)
c.2668C>G (p.Arg890Gly)
c.2899C>G (p.Arg967Gly)
c.1825C>G (p.Arg609Gly)
n.2880C>G
1g.151406010G=CA1144139349POGZc.3073C= (p.Arg1025=)
c.2866C= (p.Arg956=)
c.3025C= (p.Arg1009=)
c.3046C= (p.Arg1016=)
n.3173C=
c.2740C= (p.Arg914=)
c.2998C= (p.Arg1000=)
c.2893C= (p.Arg965=)
c.2839C= (p.Arg947=)
c.2917C= (p.Arg973=)
c.2668C= (p.Arg890=)
c.2899C= (p.Arg967=)
c.1825C= (p.Arg609=)
n.2880C=
1g.151406010G>TCA341946584POGZc.3073C>A (p.Arg1025Ser)
c.2866C>A (p.Arg956Ser)
c.3025C>A (p.Arg1009Ser)
c.3046C>A (p.Arg1016Ser)
n.3173C>A
c.2740C>A (p.Arg914Ser)
c.2998C>A (p.Arg1000Ser)
c.2893C>A (p.Arg965Ser)
c.2839C>A (p.Arg947Ser)
c.2917C>A (p.Arg973Ser)
c.2668C>A (p.Arg890Ser)
c.2899C>A (p.Arg967Ser)
c.1825C>A (p.Arg609Ser)
n.2880C>A
gnomAD v4
1g.151406011T>ACA420909723POGZc.3072A>T (p.Arg1024=)
c.2865A>T (p.Arg955=)
c.3024A>T (p.Arg1008=)
c.3045A>T (p.Arg1015=)
n.3172A>T
c.2739A>T (p.Arg913=)
c.2997A>T (p.Arg999=)
c.2892A>T (p.Arg964=)
c.2838A>T (p.Arg946=)
c.2916A>T (p.Arg972=)
c.2667A>T (p.Arg889=)
c.2898A>T (p.Arg966=)
c.1824A>T (p.Arg608=)
n.2879A>T
1g.151406011T>CCA1091018POGZc.3072A>G (p.Arg1024=)
c.2865A>G (p.Arg955=)
c.3024A>G (p.Arg1008=)
c.3045A>G (p.Arg1015=)
n.3172A>G
c.2739A>G (p.Arg913=)
c.2997A>G (p.Arg999=)
c.2892A>G (p.Arg964=)
c.2838A>G (p.Arg946=)
c.2916A>G (p.Arg972=)
c.2667A>G (p.Arg889=)
c.2898A>G (p.Arg966=)
c.1824A>G (p.Arg608=)
n.2879A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406011T>GCA420909728POGZc.3072A>C (p.Arg1024=)
c.2865A>C (p.Arg955=)
c.3024A>C (p.Arg1008=)
c.3045A>C (p.Arg1015=)
n.3172A>C
c.2739A>C (p.Arg913=)
c.2997A>C (p.Arg999=)
c.2892A>C (p.Arg964=)
c.2838A>C (p.Arg946=)
c.2916A>C (p.Arg972=)
c.2667A>C (p.Arg889=)
c.2898A>C (p.Arg966=)
c.1824A>C (p.Arg608=)
n.2879A>C
1g.151406011T=CA1142156945POGZc.3072A= (p.Arg1024=)
c.2865A= (p.Arg955=)
c.3024A= (p.Arg1008=)
c.3045A= (p.Arg1015=)
n.3172A=
c.2739A= (p.Arg913=)
c.2997A= (p.Arg999=)
c.2892A= (p.Arg964=)
c.2838A= (p.Arg946=)
c.2916A= (p.Arg972=)
c.2667A= (p.Arg889=)
c.2898A= (p.Arg966=)
c.1824A= (p.Arg608=)
n.2879A=
1g.151406012C>ACA341946593POGZc.3071G>T (p.Arg1024Leu)
c.2864G>T (p.Arg955Leu)
c.3023G>T (p.Arg1008Leu)
c.3044G>T (p.Arg1015Leu)
n.3171G>T
c.2738G>T (p.Arg913Leu)
c.2996G>T (p.Arg999Leu)
c.2891G>T (p.Arg964Leu)
c.2837G>T (p.Arg946Leu)
c.2915G>T (p.Arg972Leu)
c.2666G>T (p.Arg889Leu)
c.2897G>T (p.Arg966Leu)
c.1823G>T (p.Arg608Leu)
n.2878G>T
1g.151406012C=CA2479570483POGZc.3071G= (p.Arg1024=)
c.2864G= (p.Arg955=)
c.3023G= (p.Arg1008=)
c.3044G= (p.Arg1015=)
n.3171G=
c.2738G= (p.Arg913=)
c.2996G= (p.Arg999=)
c.2891G= (p.Arg964=)
c.2837G= (p.Arg946=)
c.2915G= (p.Arg972=)
c.2666G= (p.Arg889=)
c.2897G= (p.Arg966=)
c.1823G= (p.Arg608=)
n.2878G=
1g.151406012C>GCA341946596POGZc.3071G>C (p.Arg1024Pro)
c.2864G>C (p.Arg955Pro)
c.3023G>C (p.Arg1008Pro)
c.3044G>C (p.Arg1015Pro)
n.3171G>C
c.2738G>C (p.Arg913Pro)
c.2996G>C (p.Arg999Pro)
c.2891G>C (p.Arg964Pro)
c.2837G>C (p.Arg946Pro)
c.2915G>C (p.Arg972Pro)
c.2666G>C (p.Arg889Pro)
c.2897G>C (p.Arg966Pro)
c.1823G>C (p.Arg608Pro)
n.2878G>C
1g.151406012C>TCA1091019POGZc.3071G>A (p.Arg1024Gln)
c.2864G>A (p.Arg955Gln)
c.3023G>A (p.Arg1008Gln)
c.3044G>A (p.Arg1015Gln)
n.3171G>A
c.2738G>A (p.Arg913Gln)
c.2996G>A (p.Arg999Gln)
c.2891G>A (p.Arg964Gln)
c.2837G>A (p.Arg946Gln)
c.2915G>A (p.Arg972Gln)
c.2666G>A (p.Arg889Gln)
c.2897G>A (p.Arg966Gln)
c.1823G>A (p.Arg608Gln)
n.2878G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406013G>ACA341946615POGZc.3070C>T (p.Arg1024Ter)
c.2863C>T (p.Arg955Ter)
c.3022C>T (p.Arg1008Ter)
c.3043C>T (p.Arg1015Ter)
n.3170C>T
c.2737C>T (p.Arg913Ter)
c.2995C>T (p.Arg999Ter)
c.2890C>T (p.Arg964Ter)
c.2836C>T (p.Arg946Ter)
c.2914C>T (p.Arg972Ter)
c.2665C>T (p.Arg889Ter)
c.2896C>T (p.Arg966Ter)
c.1822C>T (p.Arg608Ter)
n.2877C>T
ClinVar dbSNP COSMIC COSMIC
1g.151406013G>CCA341946620POGZc.3070C>G (p.Arg1024Gly)
c.2863C>G (p.Arg955Gly)
c.3022C>G (p.Arg1008Gly)
c.3043C>G (p.Arg1015Gly)
n.3170C>G
c.2737C>G (p.Arg913Gly)
c.2995C>G (p.Arg999Gly)
c.2890C>G (p.Arg964Gly)
c.2836C>G (p.Arg946Gly)
c.2914C>G (p.Arg972Gly)
c.2665C>G (p.Arg889Gly)
c.2896C>G (p.Arg966Gly)
c.1822C>G (p.Arg608Gly)
n.2877C>G
1g.151406013G=CA2479570484POGZc.3070C= (p.Arg1024=)
c.2863C= (p.Arg955=)
c.3022C= (p.Arg1008=)
c.3043C= (p.Arg1015=)
n.3170C=
c.2737C= (p.Arg913=)
c.2995C= (p.Arg999=)
c.2890C= (p.Arg964=)
c.2836C= (p.Arg946=)
c.2914C= (p.Arg972=)
c.2665C= (p.Arg889=)
c.2896C= (p.Arg966=)
c.1822C= (p.Arg608=)
n.2877C=
1g.151406013G>TCA420909730POGZc.3070C>A (p.Arg1024=)
c.2863C>A (p.Arg955=)
c.3022C>A (p.Arg1008=)
c.3043C>A (p.Arg1015=)
n.3170C>A
c.2737C>A (p.Arg913=)
c.2995C>A (p.Arg999=)
c.2890C>A (p.Arg964=)
c.2836C>A (p.Arg946=)
c.2914C>A (p.Arg972=)
c.2665C>A (p.Arg889=)
c.2896C>A (p.Arg966=)
c.1822C>A (p.Arg608=)
n.2877C>A
1g.151406014A>CCA420909734POGZc.3069T>G (p.Leu1023=)
c.2862T>G (p.Leu954=)
c.3021T>G (p.Leu1007=)
c.3042T>G (p.Leu1014=)
n.3169T>G
c.2736T>G (p.Leu912=)
c.2994T>G (p.Leu998=)
c.2889T>G (p.Leu963=)
c.2835T>G (p.Leu945=)
c.2913T>G (p.Leu971=)
c.2664T>G (p.Leu888=)
c.2895T>G (p.Leu965=)
c.1821T>G (p.Leu607=)
n.2876T>G
1g.151406014A>GCA420909735POGZc.3069T>C (p.Leu1023=)
c.2862T>C (p.Leu954=)
c.3021T>C (p.Leu1007=)
c.3042T>C (p.Leu1014=)
n.3169T>C
c.2736T>C (p.Leu912=)
c.2994T>C (p.Leu998=)
c.2889T>C (p.Leu963=)
c.2835T>C (p.Leu945=)
c.2913T>C (p.Leu971=)
c.2664T>C (p.Leu888=)
c.2895T>C (p.Leu965=)
c.1821T>C (p.Leu607=)
n.2876T>C
1g.151406014A>TCA420909737POGZc.3069T>A (p.Leu1023=)
c.2862T>A (p.Leu954=)
c.3021T>A (p.Leu1007=)
c.3042T>A (p.Leu1014=)
n.3169T>A
c.2736T>A (p.Leu912=)
c.2994T>A (p.Leu998=)
c.2889T>A (p.Leu963=)
c.2835T>A (p.Leu945=)
c.2913T>A (p.Leu971=)
c.2664T>A (p.Leu888=)
c.2895T>A (p.Leu965=)
c.1821T>A (p.Leu607=)
n.2876T>A
gnomAD v4
1g.151406015A>CCA341946646POGZc.3068T>G (p.Leu1023Arg)
c.2861T>G (p.Leu954Arg)
c.3020T>G (p.Leu1007Arg)
c.3041T>G (p.Leu1014Arg)
n.3168T>G
c.2735T>G (p.Leu912Arg)
c.2993T>G (p.Leu998Arg)
c.2888T>G (p.Leu963Arg)
c.2834T>G (p.Leu945Arg)
c.2912T>G (p.Leu971Arg)
c.2663T>G (p.Leu888Arg)
c.2894T>G (p.Leu965Arg)
c.1820T>G (p.Leu607Arg)
n.2875T>G
1g.151406015A>GCA341946649POGZc.3068T>C (p.Leu1023Pro)
c.2861T>C (p.Leu954Pro)
c.3020T>C (p.Leu1007Pro)
c.3041T>C (p.Leu1014Pro)
n.3168T>C
c.2735T>C (p.Leu912Pro)
c.2993T>C (p.Leu998Pro)
c.2888T>C (p.Leu963Pro)
c.2834T>C (p.Leu945Pro)
c.2912T>C (p.Leu971Pro)
c.2663T>C (p.Leu888Pro)
c.2894T>C (p.Leu965Pro)
c.1820T>C (p.Leu607Pro)
n.2875T>C
1g.151406015A>TCA341946654POGZc.3068T>A (p.Leu1023His)
c.2861T>A (p.Leu954His)
c.3020T>A (p.Leu1007His)
c.3041T>A (p.Leu1014His)
n.3168T>A
c.2735T>A (p.Leu912His)
c.2993T>A (p.Leu998His)
c.2888T>A (p.Leu963His)
c.2834T>A (p.Leu945His)
c.2912T>A (p.Leu971His)
c.2663T>A (p.Leu888His)
c.2894T>A (p.Leu965His)
c.1820T>A (p.Leu607His)
n.2875T>A
1g.151406016G>ACA341946663POGZc.3067C>T (p.Leu1023Phe)
c.2860C>T (p.Leu954Phe)
c.3019C>T (p.Leu1007Phe)
c.3040C>T (p.Leu1014Phe)
n.3167C>T
c.2734C>T (p.Leu912Phe)
c.2992C>T (p.Leu998Phe)
c.2887C>T (p.Leu963Phe)
c.2833C>T (p.Leu945Phe)
c.2911C>T (p.Leu971Phe)
c.2662C>T (p.Leu888Phe)
c.2893C>T (p.Leu965Phe)
c.1819C>T (p.Leu607Phe)
n.2874C>T
1g.151406016G>CCA341946662POGZc.3067C>G (p.Leu1023Val)
c.2860C>G (p.Leu954Val)
c.3019C>G (p.Leu1007Val)
c.3040C>G (p.Leu1014Val)
n.3167C>G
c.2734C>G (p.Leu912Val)
c.2992C>G (p.Leu998Val)
c.2887C>G (p.Leu963Val)
c.2833C>G (p.Leu945Val)
c.2911C>G (p.Leu971Val)
c.2662C>G (p.Leu888Val)
c.2893C>G (p.Leu965Val)
c.1819C>G (p.Leu607Val)
n.2874C>G
1g.151406016G>TCA341946657POGZc.3067C>A (p.Leu1023Ile)
c.2860C>A (p.Leu954Ile)
c.3019C>A (p.Leu1007Ile)
c.3040C>A (p.Leu1014Ile)
n.3167C>A
c.2734C>A (p.Leu912Ile)
c.2992C>A (p.Leu998Ile)
c.2887C>A (p.Leu963Ile)
c.2833C>A (p.Leu945Ile)
c.2911C>A (p.Leu971Ile)
c.2662C>A (p.Leu888Ile)
c.2893C>A (p.Leu965Ile)
c.1819C>A (p.Leu607Ile)
n.2874C>A
1g.151406017C>ACA341946667POGZc.3066G>T (p.Trp1022Cys)
c.2859G>T (p.Trp953Cys)
c.3018G>T (p.Trp1006Cys)
c.3039G>T (p.Trp1013Cys)
n.3166G>T
c.2733G>T (p.Trp911Cys)
c.2991G>T (p.Trp997Cys)
c.2886G>T (p.Trp962Cys)
c.2832G>T (p.Trp944Cys)
c.2910G>T (p.Trp970Cys)
c.2661G>T (p.Trp887Cys)
c.2892G>T (p.Trp964Cys)
c.1818G>T (p.Trp606Cys)
n.2873G>T
1g.151406017C>GCA341946669POGZc.3066G>C (p.Trp1022Cys)
c.2859G>C (p.Trp953Cys)
c.3018G>C (p.Trp1006Cys)
c.3039G>C (p.Trp1013Cys)
n.3166G>C
c.2733G>C (p.Trp911Cys)
c.2991G>C (p.Trp997Cys)
c.2886G>C (p.Trp962Cys)
c.2832G>C (p.Trp944Cys)
c.2910G>C (p.Trp970Cys)
c.2661G>C (p.Trp887Cys)
c.2892G>C (p.Trp964Cys)
c.1818G>C (p.Trp606Cys)
n.2873G>C
gnomAD v4
1g.151406017C>TCA341946671POGZc.3066G>A (p.Trp1022Ter)
c.2859G>A (p.Trp953Ter)
c.3018G>A (p.Trp1006Ter)
c.3039G>A (p.Trp1013Ter)
n.3166G>A
c.2733G>A (p.Trp911Ter)
c.2991G>A (p.Trp997Ter)
c.2886G>A (p.Trp962Ter)
c.2832G>A (p.Trp944Ter)
c.2910G>A (p.Trp970Ter)
c.2661G>A (p.Trp887Ter)
c.2892G>A (p.Trp964Ter)
c.1818G>A (p.Trp606Ter)
n.2873G>A
1g.151406018C>ACA341946675POGZc.3065G>T (p.Trp1022Leu)
c.2858G>T (p.Trp953Leu)
c.3017G>T (p.Trp1006Leu)
c.3038G>T (p.Trp1013Leu)
n.3165G>T
c.2732G>T (p.Trp911Leu)
c.2990G>T (p.Trp997Leu)
c.2885G>T (p.Trp962Leu)
c.2831G>T (p.Trp944Leu)
c.2909G>T (p.Trp970Leu)
c.2660G>T (p.Trp887Leu)
c.2891G>T (p.Trp964Leu)
c.1817G>T (p.Trp606Leu)
n.2872G>T
1g.151406018C>GCA341946682POGZc.3065G>C (p.Trp1022Ser)
c.2858G>C (p.Trp953Ser)
c.3017G>C (p.Trp1006Ser)
c.3038G>C (p.Trp1013Ser)
n.3165G>C
c.2732G>C (p.Trp911Ser)
c.2990G>C (p.Trp997Ser)
c.2885G>C (p.Trp962Ser)
c.2831G>C (p.Trp944Ser)
c.2909G>C (p.Trp970Ser)
c.2660G>C (p.Trp887Ser)
c.2891G>C (p.Trp964Ser)
c.1817G>C (p.Trp606Ser)
n.2872G>C
1g.151406018C>TCA341946686POGZc.3065G>A (p.Trp1022Ter)
c.2858G>A (p.Trp953Ter)
c.3017G>A (p.Trp1006Ter)
c.3038G>A (p.Trp1013Ter)
n.3165G>A
c.2732G>A (p.Trp911Ter)
c.2990G>A (p.Trp997Ter)
c.2885G>A (p.Trp962Ter)
c.2831G>A (p.Trp944Ter)
c.2909G>A (p.Trp970Ter)
c.2660G>A (p.Trp887Ter)
c.2891G>A (p.Trp964Ter)
c.1817G>A (p.Trp606Ter)
n.2872G>A
1g.151406019A>CCA341946694POGZc.3064T>G (p.Trp1022Gly)
c.2857T>G (p.Trp953Gly)
c.3016T>G (p.Trp1006Gly)
c.3037T>G (p.Trp1013Gly)
n.3164T>G
c.2731T>G (p.Trp911Gly)
c.2989T>G (p.Trp997Gly)
c.2884T>G (p.Trp962Gly)
c.2830T>G (p.Trp944Gly)
c.2908T>G (p.Trp970Gly)
c.2659T>G (p.Trp887Gly)
c.2890T>G (p.Trp964Gly)
c.1816T>G (p.Trp606Gly)
n.2871T>G
1g.151406019A>GCA341946698POGZc.3064T>C (p.Trp1022Arg)
c.2857T>C (p.Trp953Arg)
c.3016T>C (p.Trp1006Arg)
c.3037T>C (p.Trp1013Arg)
n.3164T>C
c.2731T>C (p.Trp911Arg)
c.2989T>C (p.Trp997Arg)
c.2884T>C (p.Trp962Arg)
c.2830T>C (p.Trp944Arg)
c.2908T>C (p.Trp970Arg)
c.2659T>C (p.Trp887Arg)
c.2890T>C (p.Trp964Arg)
c.1816T>C (p.Trp606Arg)
n.2871T>C
1g.151406019A>TCA341946701POGZc.3064T>A (p.Trp1022Arg)
c.2857T>A (p.Trp953Arg)
c.3016T>A (p.Trp1006Arg)
c.3037T>A (p.Trp1013Arg)
n.3164T>A
c.2731T>A (p.Trp911Arg)
c.2989T>A (p.Trp997Arg)
c.2884T>A (p.Trp962Arg)
c.2830T>A (p.Trp944Arg)
c.2908T>A (p.Trp970Arg)
c.2659T>A (p.Trp887Arg)
c.2890T>A (p.Trp964Arg)
c.1816T>A (p.Trp606Arg)
n.2871T>A
1g.151406020A>CCA420909751POGZc.3063T>G (p.Arg1021=)
c.2856T>G (p.Arg952=)
c.3015T>G (p.Arg1005=)
c.3036T>G (p.Arg1012=)
n.3163T>G
c.2730T>G (p.Arg910=)
c.2988T>G (p.Arg996=)
c.2883T>G (p.Arg961=)
c.2829T>G (p.Arg943=)
c.2907T>G (p.Arg969=)
c.2658T>G (p.Arg886=)
c.2889T>G (p.Arg963=)
c.1815T>G (p.Arg605=)
n.2870T>G
1g.151406020A>GCA420909752POGZc.3063T>C (p.Arg1021=)
c.2856T>C (p.Arg952=)
c.3015T>C (p.Arg1005=)
c.3036T>C (p.Arg1012=)
n.3163T>C
c.2730T>C (p.Arg910=)
c.2988T>C (p.Arg996=)
c.2883T>C (p.Arg961=)
c.2829T>C (p.Arg943=)
c.2907T>C (p.Arg969=)
c.2658T>C (p.Arg886=)
c.2889T>C (p.Arg963=)
c.1815T>C (p.Arg605=)
n.2870T>C
1g.151406020A>TCA420909753POGZc.3063T>A (p.Arg1021=)
c.2856T>A (p.Arg952=)
c.3015T>A (p.Arg1005=)
c.3036T>A (p.Arg1012=)
n.3163T>A
c.2730T>A (p.Arg910=)
c.2988T>A (p.Arg996=)
c.2883T>A (p.Arg961=)
c.2829T>A (p.Arg943=)
c.2907T>A (p.Arg969=)
c.2658T>A (p.Arg886=)
c.2889T>A (p.Arg963=)
c.1815T>A (p.Arg605=)
n.2870T>A
1g.151406021C>ACA341946711POGZc.3062G>T (p.Arg1021Leu)
c.2855G>T (p.Arg952Leu)
c.3014G>T (p.Arg1005Leu)
c.3035G>T (p.Arg1012Leu)
n.3162G>T
c.2729G>T (p.Arg910Leu)
c.2987G>T (p.Arg996Leu)
c.2882G>T (p.Arg961Leu)
c.2828G>T (p.Arg943Leu)
c.2906G>T (p.Arg969Leu)
c.2657G>T (p.Arg886Leu)
c.2888G>T (p.Arg963Leu)
c.1814G>T (p.Arg605Leu)
n.2869G>T
dbSNP
1g.151406021C=CA1149054913POGZc.3062G= (p.Arg1021=)
c.2855G= (p.Arg952=)
c.3014G= (p.Arg1005=)
c.3035G= (p.Arg1012=)
n.3162G=
c.2729G= (p.Arg910=)
c.2987G= (p.Arg996=)
c.2882G= (p.Arg961=)
c.2828G= (p.Arg943=)
c.2906G= (p.Arg969=)
c.2657G= (p.Arg886=)
c.2888G= (p.Arg963=)
c.1814G= (p.Arg605=)
n.2869G=
1g.151406021C>GCA341946714POGZc.3062G>C (p.Arg1021Pro)
c.2855G>C (p.Arg952Pro)
c.3014G>C (p.Arg1005Pro)
c.3035G>C (p.Arg1012Pro)
n.3162G>C
c.2729G>C (p.Arg910Pro)
c.2987G>C (p.Arg996Pro)
c.2882G>C (p.Arg961Pro)
c.2828G>C (p.Arg943Pro)
c.2906G>C (p.Arg969Pro)
c.2657G>C (p.Arg886Pro)
c.2888G>C (p.Arg963Pro)
c.1814G>C (p.Arg605Pro)
n.2869G>C
1g.151406021C>TCA1091020POGZc.3062G>A (p.Arg1021His)
c.2855G>A (p.Arg952His)
c.3014G>A (p.Arg1005His)
c.3035G>A (p.Arg1012His)
n.3162G>A
c.2729G>A (p.Arg910His)
c.2987G>A (p.Arg996His)
c.2882G>A (p.Arg961His)
c.2828G>A (p.Arg943His)
c.2906G>A (p.Arg969His)
c.2657G>A (p.Arg886His)
c.2888G>A (p.Arg963His)
c.1814G>A (p.Arg605His)
n.2869G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406022G>ACA341946733POGZc.3061C>T (p.Arg1021Cys)
c.2854C>T (p.Arg952Cys)
c.3013C>T (p.Arg1005Cys)
c.3034C>T (p.Arg1012Cys)
n.3161C>T
c.2728C>T (p.Arg910Cys)
c.2986C>T (p.Arg996Cys)
c.2881C>T (p.Arg961Cys)
c.2827C>T (p.Arg943Cys)
c.2905C>T (p.Arg969Cys)
c.2656C>T (p.Arg886Cys)
c.2887C>T (p.Arg963Cys)
c.1813C>T (p.Arg605Cys)
n.2868C>T
dbSNP gnomAD v2 gnomAD v4
1g.151406022G>CCA341946726POGZc.3061C>G (p.Arg1021Gly)
c.2854C>G (p.Arg952Gly)
c.3013C>G (p.Arg1005Gly)
c.3034C>G (p.Arg1012Gly)
n.3161C>G
c.2728C>G (p.Arg910Gly)
c.2986C>G (p.Arg996Gly)
c.2881C>G (p.Arg961Gly)
c.2827C>G (p.Arg943Gly)
c.2905C>G (p.Arg969Gly)
c.2656C>G (p.Arg886Gly)
c.2887C>G (p.Arg963Gly)
c.1813C>G (p.Arg605Gly)
n.2868C>G
1g.151406022G=CA2479570485POGZc.3061C= (p.Arg1021=)
c.2854C= (p.Arg952=)
c.3013C= (p.Arg1005=)
c.3034C= (p.Arg1012=)
n.3161C=
c.2728C= (p.Arg910=)
c.2986C= (p.Arg996=)
c.2881C= (p.Arg961=)
c.2827C= (p.Arg943=)
c.2905C= (p.Arg969=)
c.2656C= (p.Arg886=)
c.2887C= (p.Arg963=)
c.1813C= (p.Arg605=)
n.2868C=
1g.151406022G>TCA1091021POGZc.3061C>A (p.Arg1021Ser)
c.2854C>A (p.Arg952Ser)
c.3013C>A (p.Arg1005Ser)
c.3034C>A (p.Arg1012Ser)
n.3161C>A
c.2728C>A (p.Arg910Ser)
c.2986C>A (p.Arg996Ser)
c.2881C>A (p.Arg961Ser)
c.2827C>A (p.Arg943Ser)
c.2905C>A (p.Arg969Ser)
c.2656C>A (p.Arg886Ser)
c.2887C>A (p.Arg963Ser)
c.1813C>A (p.Arg605Ser)
n.2868C>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406023G>ACA420909760POGZc.3060C>T (p.Arg1020=)
c.2853C>T (p.Arg951=)
c.3012C>T (p.Arg1004=)
c.3033C>T (p.Arg1011=)
n.3160C>T
c.2727C>T (p.Arg909=)
c.2985C>T (p.Arg995=)
c.2880C>T (p.Arg960=)
c.2826C>T (p.Arg942=)
c.2904C>T (p.Arg968=)
c.2655C>T (p.Arg885=)
c.2886C>T (p.Arg962=)
c.1812C>T (p.Arg604=)
n.2867C>T
dbSNP gnomAD v4
1g.151406023G>CCA420909761POGZc.3060C>G (p.Arg1020=)
c.2853C>G (p.Arg951=)
c.3012C>G (p.Arg1004=)
c.3033C>G (p.Arg1011=)
n.3160C>G
c.2727C>G (p.Arg909=)
c.2985C>G (p.Arg995=)
c.2880C>G (p.Arg960=)
c.2826C>G (p.Arg942=)
c.2904C>G (p.Arg968=)
c.2655C>G (p.Arg885=)
c.2886C>G (p.Arg962=)
c.1812C>G (p.Arg604=)
n.2867C>G
1g.151406023G=CA2479570486POGZc.3060C= (p.Arg1020=)
c.2853C= (p.Arg951=)
c.3012C= (p.Arg1004=)
c.3033C= (p.Arg1011=)
n.3160C=
c.2727C= (p.Arg909=)
c.2985C= (p.Arg995=)
c.2880C= (p.Arg960=)
c.2826C= (p.Arg942=)
c.2904C= (p.Arg968=)
c.2655C= (p.Arg885=)
c.2886C= (p.Arg962=)
c.1812C= (p.Arg604=)
n.2867C=
1g.151406023G>TCA420909762POGZc.3060C>A (p.Arg1020=)
c.2853C>A (p.Arg951=)
c.3012C>A (p.Arg1004=)
c.3033C>A (p.Arg1011=)
n.3160C>A
c.2727C>A (p.Arg909=)
c.2985C>A (p.Arg995=)
c.2880C>A (p.Arg960=)
c.2826C>A (p.Arg942=)
c.2904C>A (p.Arg968=)
c.2655C>A (p.Arg885=)
c.2886C>A (p.Arg962=)
c.1812C>A (p.Arg604=)
n.2867C>A
1g.151406024C>ACA341946744POGZc.3059G>T (p.Arg1020Leu)
c.2852G>T (p.Arg951Leu)
c.3011G>T (p.Arg1004Leu)
c.3032G>T (p.Arg1011Leu)
n.3159G>T
c.2726G>T (p.Arg909Leu)
c.2984G>T (p.Arg995Leu)
c.2879G>T (p.Arg960Leu)
c.2825G>T (p.Arg942Leu)
c.2903G>T (p.Arg968Leu)
c.2654G>T (p.Arg885Leu)
c.2885G>T (p.Arg962Leu)
c.1811G>T (p.Arg604Leu)
n.2866G>T
1g.151406024C=CA2479570487POGZc.3059G= (p.Arg1020=)
c.2852G= (p.Arg951=)
c.3011G= (p.Arg1004=)
c.3032G= (p.Arg1011=)
n.3159G=
c.2726G= (p.Arg909=)
c.2984G= (p.Arg995=)
c.2879G= (p.Arg960=)
c.2825G= (p.Arg942=)
c.2903G= (p.Arg968=)
c.2654G= (p.Arg885=)
c.2885G= (p.Arg962=)
c.1811G= (p.Arg604=)
n.2866G=
1g.151406024C>GCA341946748POGZc.3059G>C (p.Arg1020Pro)
c.2852G>C (p.Arg951Pro)
c.3011G>C (p.Arg1004Pro)
c.3032G>C (p.Arg1011Pro)
n.3159G>C
c.2726G>C (p.Arg909Pro)
c.2984G>C (p.Arg995Pro)
c.2879G>C (p.Arg960Pro)
c.2825G>C (p.Arg942Pro)
c.2903G>C (p.Arg968Pro)
c.2654G>C (p.Arg885Pro)
c.2885G>C (p.Arg962Pro)
c.1811G>C (p.Arg604Pro)
n.2866G>C
1g.151406024C>TCA1091022POGZc.3059G>A (p.Arg1020His)
c.2852G>A (p.Arg951His)
c.3011G>A (p.Arg1004His)
c.3032G>A (p.Arg1011His)
n.3159G>A
c.2726G>A (p.Arg909His)
c.2984G>A (p.Arg995His)
c.2879G>A (p.Arg960His)
c.2825G>A (p.Arg942His)
c.2903G>A (p.Arg968His)
c.2654G>A (p.Arg885His)
c.2885G>A (p.Arg962His)
c.1811G>A (p.Arg604His)
n.2866G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406025G>ACA1091023POGZc.3058C>T (p.Arg1020Cys)
c.2851C>T (p.Arg951Cys)
c.3010C>T (p.Arg1004Cys)
c.3031C>T (p.Arg1011Cys)
n.3158C>T
c.2725C>T (p.Arg909Cys)
c.2983C>T (p.Arg995Cys)
c.2878C>T (p.Arg960Cys)
c.2824C>T (p.Arg942Cys)
c.2902C>T (p.Arg968Cys)
c.2653C>T (p.Arg885Cys)
c.2884C>T (p.Arg962Cys)
c.1810C>T (p.Arg604Cys)
n.2865C>T
dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406025G>CCA341946757POGZc.3058C>G (p.Arg1020Gly)
c.2851C>G (p.Arg951Gly)
c.3010C>G (p.Arg1004Gly)
c.3031C>G (p.Arg1011Gly)
n.3158C>G
c.2725C>G (p.Arg909Gly)
c.2983C>G (p.Arg995Gly)
c.2878C>G (p.Arg960Gly)
c.2824C>G (p.Arg942Gly)
c.2902C>G (p.Arg968Gly)
c.2653C>G (p.Arg885Gly)
c.2884C>G (p.Arg962Gly)
c.1810C>G (p.Arg604Gly)
n.2865C>G
1g.151406025G=CA1143641249POGZc.3058C= (p.Arg1020=)
c.2851C= (p.Arg951=)
c.3010C= (p.Arg1004=)
c.3031C= (p.Arg1011=)
n.3158C=
c.2725C= (p.Arg909=)
c.2983C= (p.Arg995=)
c.2878C= (p.Arg960=)
c.2824C= (p.Arg942=)
c.2902C= (p.Arg968=)
c.2653C= (p.Arg885=)
c.2884C= (p.Arg962=)
c.1810C= (p.Arg604=)
n.2865C=
1g.151406025G>TCA341946761POGZc.3058C>A (p.Arg1020Ser)
c.2851C>A (p.Arg951Ser)
c.3010C>A (p.Arg1004Ser)
c.3031C>A (p.Arg1011Ser)
n.3158C>A
c.2725C>A (p.Arg909Ser)
c.2983C>A (p.Arg995Ser)
c.2878C>A (p.Arg960Ser)
c.2824C>A (p.Arg942Ser)
c.2902C>A (p.Arg968Ser)
c.2653C>A (p.Arg885Ser)
c.2884C>A (p.Arg962Ser)
c.1810C>A (p.Arg604Ser)
n.2865C>A
1g.151406026A>CCA341946769POGZc.3057T>G (p.Ile1019Met)
c.2850T>G (p.Ile950Met)
c.3009T>G (p.Ile1003Met)
c.3030T>G (p.Ile1010Met)
n.3157T>G
c.2724T>G (p.Ile908Met)
c.2982T>G (p.Ile994Met)
c.2877T>G (p.Ile959Met)
c.2823T>G (p.Ile941Met)
c.2901T>G (p.Ile967Met)
c.2652T>G (p.Ile884Met)
c.2883T>G (p.Ile961Met)
c.1809T>G (p.Ile603Met)
n.2864T>G
1g.151406026A>GCA420909768POGZc.3057T>C (p.Ile1019=)
c.2850T>C (p.Ile950=)
c.3009T>C (p.Ile1003=)
c.3030T>C (p.Ile1010=)
n.3157T>C
c.2724T>C (p.Ile908=)
c.2982T>C (p.Ile994=)
c.2877T>C (p.Ile959=)
c.2823T>C (p.Ile941=)
c.2901T>C (p.Ile967=)
c.2652T>C (p.Ile884=)
c.2883T>C (p.Ile961=)
c.1809T>C (p.Ile603=)
n.2864T>C
1g.151406026A>TCA420909766POGZc.3057T>A (p.Ile1019=)
c.2850T>A (p.Ile950=)
c.3009T>A (p.Ile1003=)
c.3030T>A (p.Ile1010=)
n.3157T>A
c.2724T>A (p.Ile908=)
c.2982T>A (p.Ile994=)
c.2877T>A (p.Ile959=)
c.2823T>A (p.Ile941=)
c.2901T>A (p.Ile967=)
c.2652T>A (p.Ile884=)
c.2883T>A (p.Ile961=)
c.1809T>A (p.Ile603=)
n.2864T>A
1g.151406027A=CA2479570488POGZc.3056T= (p.Ile1019=)
c.2849T= (p.Ile950=)
c.3008T= (p.Ile1003=)
c.3029T= (p.Ile1010=)
n.3156T=
c.2723T= (p.Ile908=)
c.2981T= (p.Ile994=)
c.2876T= (p.Ile959=)
c.2822T= (p.Ile941=)
c.2900T= (p.Ile967=)
c.2651T= (p.Ile884=)
c.2882T= (p.Ile961=)
c.1808T= (p.Ile603=)
n.2863T=
1g.151406027A>CCA341946772POGZc.3056T>G (p.Ile1019Ser)
c.2849T>G (p.Ile950Ser)
c.3008T>G (p.Ile1003Ser)
c.3029T>G (p.Ile1010Ser)
n.3156T>G
c.2723T>G (p.Ile908Ser)
c.2981T>G (p.Ile994Ser)
c.2876T>G (p.Ile959Ser)
c.2822T>G (p.Ile941Ser)
c.2900T>G (p.Ile967Ser)
c.2651T>G (p.Ile884Ser)
c.2882T>G (p.Ile961Ser)
c.1808T>G (p.Ile603Ser)
n.2863T>G
1g.151406027A>GCA341946773POGZc.3056T>C (p.Ile1019Thr)
c.2849T>C (p.Ile950Thr)
c.3008T>C (p.Ile1003Thr)
c.3029T>C (p.Ile1010Thr)
n.3156T>C
c.2723T>C (p.Ile908Thr)
c.2981T>C (p.Ile994Thr)
c.2876T>C (p.Ile959Thr)
c.2822T>C (p.Ile941Thr)
c.2900T>C (p.Ile967Thr)
c.2651T>C (p.Ile884Thr)
c.2882T>C (p.Ile961Thr)
c.1808T>C (p.Ile603Thr)
n.2863T>C
ClinVar dbSNP
1g.151406027A>TCA341946776POGZc.3056T>A (p.Ile1019Asn)
c.2849T>A (p.Ile950Asn)
c.3008T>A (p.Ile1003Asn)
c.3029T>A (p.Ile1010Asn)
n.3156T>A
c.2723T>A (p.Ile908Asn)
c.2981T>A (p.Ile994Asn)
c.2876T>A (p.Ile959Asn)
c.2822T>A (p.Ile941Asn)
c.2900T>A (p.Ile967Asn)
c.2651T>A (p.Ile884Asn)
c.2882T>A (p.Ile961Asn)
c.1808T>A (p.Ile603Asn)
n.2863T>A
1g.151406028T>ACA341946782POGZc.3055A>T (p.Ile1019Phe)
c.2848A>T (p.Ile950Phe)
c.3007A>T (p.Ile1003Phe)
c.3028A>T (p.Ile1010Phe)
n.3155A>T
c.2722A>T (p.Ile908Phe)
c.2980A>T (p.Ile994Phe)
c.2875A>T (p.Ile959Phe)
c.2821A>T (p.Ile941Phe)
c.2899A>T (p.Ile967Phe)
c.2650A>T (p.Ile884Phe)
c.2881A>T (p.Ile961Phe)
c.1807A>T (p.Ile603Phe)
n.2862A>T
1g.151406028T>CCA341946790POGZc.3055A>G (p.Ile1019Val)
c.2848A>G (p.Ile950Val)
c.3007A>G (p.Ile1003Val)
c.3028A>G (p.Ile1010Val)
n.3155A>G
c.2722A>G (p.Ile908Val)
c.2980A>G (p.Ile994Val)
c.2875A>G (p.Ile959Val)
c.2821A>G (p.Ile941Val)
c.2899A>G (p.Ile967Val)
c.2650A>G (p.Ile884Val)
c.2881A>G (p.Ile961Val)
c.1807A>G (p.Ile603Val)
n.2862A>G
1g.151406028T>GCA341946794POGZc.3055A>C (p.Ile1019Leu)
c.2848A>C (p.Ile950Leu)
c.3007A>C (p.Ile1003Leu)
c.3028A>C (p.Ile1010Leu)
n.3155A>C
c.2722A>C (p.Ile908Leu)
c.2980A>C (p.Ile994Leu)
c.2875A>C (p.Ile959Leu)
c.2821A>C (p.Ile941Leu)
c.2899A>C (p.Ile967Leu)
c.2650A>C (p.Ile884Leu)
c.2881A>C (p.Ile961Leu)
c.1807A>C (p.Ile603Leu)
n.2862A>C
1g.151406029A>CCA420909772POGZc.3054T>G (p.Arg1018=)
c.2847T>G (p.Arg949=)
c.3006T>G (p.Arg1002=)
c.3027T>G (p.Arg1009=)
n.3154T>G
c.2721T>G (p.Arg907=)
c.2979T>G (p.Arg993=)
c.2874T>G (p.Arg958=)
c.2820T>G (p.Arg940=)
c.2898T>G (p.Arg966=)
c.2649T>G (p.Arg883=)
c.2880T>G (p.Arg960=)
c.1806T>G (p.Arg602=)
n.2861T>G
1g.151406029A>GCA420909773POGZc.3054T>C (p.Arg1018=)
c.2847T>C (p.Arg949=)
c.3006T>C (p.Arg1002=)
c.3027T>C (p.Arg1009=)
n.3154T>C
c.2721T>C (p.Arg907=)
c.2979T>C (p.Arg993=)
c.2874T>C (p.Arg958=)
c.2820T>C (p.Arg940=)
c.2898T>C (p.Arg966=)
c.2649T>C (p.Arg883=)
c.2880T>C (p.Arg960=)
c.1806T>C (p.Arg602=)
n.2861T>C
1g.151406029A>TCA420909774POGZc.3054T>A (p.Arg1018=)
c.2847T>A (p.Arg949=)
c.3006T>A (p.Arg1002=)
c.3027T>A (p.Arg1009=)
n.3154T>A
c.2721T>A (p.Arg907=)
c.2979T>A (p.Arg993=)
c.2874T>A (p.Arg958=)
c.2820T>A (p.Arg940=)
c.2898T>A (p.Arg966=)
c.2649T>A (p.Arg883=)
c.2880T>A (p.Arg960=)
c.1806T>A (p.Arg602=)
n.2861T>A
1g.151406030C>ACA341946799POGZc.3053G>T (p.Arg1018Leu)
c.2846G>T (p.Arg949Leu)
c.3005G>T (p.Arg1002Leu)
c.3026G>T (p.Arg1009Leu)
n.3153G>T
c.2720G>T (p.Arg907Leu)
c.2978G>T (p.Arg993Leu)
c.2873G>T (p.Arg958Leu)
c.2819G>T (p.Arg940Leu)
c.2897G>T (p.Arg966Leu)
c.2648G>T (p.Arg883Leu)
c.2879G>T (p.Arg960Leu)
c.1805G>T (p.Arg602Leu)
n.2860G>T
1g.151406030C=CA2479570489POGZc.3053G= (p.Arg1018=)
c.2846G= (p.Arg949=)
c.3005G= (p.Arg1002=)
c.3026G= (p.Arg1009=)
n.3153G=
c.2720G= (p.Arg907=)
c.2978G= (p.Arg993=)
c.2873G= (p.Arg958=)
c.2819G= (p.Arg940=)
c.2897G= (p.Arg966=)
c.2648G= (p.Arg883=)
c.2879G= (p.Arg960=)
c.1805G= (p.Arg602=)
n.2860G=
1g.151406030C>GCA341946801POGZc.3053G>C (p.Arg1018Pro)
c.2846G>C (p.Arg949Pro)
c.3005G>C (p.Arg1002Pro)
c.3026G>C (p.Arg1009Pro)
n.3153G>C
c.2720G>C (p.Arg907Pro)
c.2978G>C (p.Arg993Pro)
c.2873G>C (p.Arg958Pro)
c.2819G>C (p.Arg940Pro)
c.2897G>C (p.Arg966Pro)
c.2648G>C (p.Arg883Pro)
c.2879G>C (p.Arg960Pro)
c.1805G>C (p.Arg602Pro)
n.2860G>C
dbSNP gnomAD v4
1g.151406030C>TCA1091024POGZc.3053G>A (p.Arg1018His)
c.2846G>A (p.Arg949His)
c.3005G>A (p.Arg1002His)
c.3026G>A (p.Arg1009His)
n.3153G>A
c.2720G>A (p.Arg907His)
c.2978G>A (p.Arg993His)
c.2873G>A (p.Arg958His)
c.2819G>A (p.Arg940His)
c.2897G>A (p.Arg966His)
c.2648G>A (p.Arg883His)
c.2879G>A (p.Arg960His)
c.1805G>A (p.Arg602His)
n.2860G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406031G>ACA341946806POGZc.3052C>T (p.Arg1018Cys)
c.2845C>T (p.Arg949Cys)
c.3004C>T (p.Arg1002Cys)
c.3025C>T (p.Arg1009Cys)
n.3152C>T
c.2719C>T (p.Arg907Cys)
c.2977C>T (p.Arg993Cys)
c.2872C>T (p.Arg958Cys)
c.2818C>T (p.Arg940Cys)
c.2896C>T (p.Arg966Cys)
c.2647C>T (p.Arg883Cys)
c.2878C>T (p.Arg960Cys)
c.1804C>T (p.Arg602Cys)
n.2859C>T
dbSNP gnomAD v3 gnomAD v4
1g.151406031G>CCA341946812POGZc.3052C>G (p.Arg1018Gly)
c.2845C>G (p.Arg949Gly)
c.3004C>G (p.Arg1002Gly)
c.3025C>G (p.Arg1009Gly)
n.3152C>G
c.2719C>G (p.Arg907Gly)
c.2977C>G (p.Arg993Gly)
c.2872C>G (p.Arg958Gly)
c.2818C>G (p.Arg940Gly)
c.2896C>G (p.Arg966Gly)
c.2647C>G (p.Arg883Gly)
c.2878C>G (p.Arg960Gly)
c.1804C>G (p.Arg602Gly)
n.2859C>G
1g.151406031G=CA2479570490POGZc.3052C= (p.Arg1018=)
c.2845C= (p.Arg949=)
c.3004C= (p.Arg1002=)
c.3025C= (p.Arg1009=)
n.3152C=
c.2719C= (p.Arg907=)
c.2977C= (p.Arg993=)
c.2872C= (p.Arg958=)
c.2818C= (p.Arg940=)
c.2896C= (p.Arg966=)
c.2647C= (p.Arg883=)
c.2878C= (p.Arg960=)
c.1804C= (p.Arg602=)
n.2859C=
1g.151406031G>TCA341946808POGZc.3052C>A (p.Arg1018Ser)
c.2845C>A (p.Arg949Ser)
c.3004C>A (p.Arg1002Ser)
c.3025C>A (p.Arg1009Ser)
n.3152C>A
c.2719C>A (p.Arg907Ser)
c.2977C>A (p.Arg993Ser)
c.2872C>A (p.Arg958Ser)
c.2818C>A (p.Arg940Ser)
c.2896C>A (p.Arg966Ser)
c.2647C>A (p.Arg883Ser)
c.2878C>A (p.Arg960Ser)
c.1804C>A (p.Arg602Ser)
n.2859C>A
1g.151406032T>ACA420909778POGZc.3051A>T (p.Arg1017=)
c.2844A>T (p.Arg948=)
c.3003A>T (p.Arg1001=)
c.3024A>T (p.Arg1008=)
n.3151A>T
c.2718A>T (p.Arg906=)
c.2976A>T (p.Arg992=)
c.2871A>T (p.Arg957=)
c.2817A>T (p.Arg939=)
c.2895A>T (p.Arg965=)
c.2646A>T (p.Arg882=)
c.2877A>T (p.Arg959=)
c.1803A>T (p.Arg601=)
n.2858A>T
1g.151406032T>CCA420909779POGZc.3051A>G (p.Arg1017=)
c.2844A>G (p.Arg948=)
c.3003A>G (p.Arg1001=)
c.3024A>G (p.Arg1008=)
n.3151A>G
c.2718A>G (p.Arg906=)
c.2976A>G (p.Arg992=)
c.2871A>G (p.Arg957=)
c.2817A>G (p.Arg939=)
c.2895A>G (p.Arg965=)
c.2646A>G (p.Arg882=)
c.2877A>G (p.Arg959=)
c.1803A>G (p.Arg601=)
n.2858A>G
1g.151406032T>GCA420909780POGZc.3051A>C (p.Arg1017=)
c.2844A>C (p.Arg948=)
c.3003A>C (p.Arg1001=)
c.3024A>C (p.Arg1008=)
n.3151A>C
c.2718A>C (p.Arg906=)
c.2976A>C (p.Arg992=)
c.2871A>C (p.Arg957=)
c.2817A>C (p.Arg939=)
c.2895A>C (p.Arg965=)
c.2646A>C (p.Arg882=)
c.2877A>C (p.Arg959=)
c.1803A>C (p.Arg601=)
n.2858A>C
1g.151406033C>ACA341946816POGZc.3050G>T (p.Arg1017Leu)
c.2843G>T (p.Arg948Leu)
c.3002G>T (p.Arg1001Leu)
c.3023G>T (p.Arg1008Leu)
n.3150G>T
c.2717G>T (p.Arg906Leu)
c.2975G>T (p.Arg992Leu)
c.2870G>T (p.Arg957Leu)
c.2816G>T (p.Arg939Leu)
c.2894G>T (p.Arg965Leu)
c.2645G>T (p.Arg882Leu)
c.2876G>T (p.Arg959Leu)
c.1802G>T (p.Arg601Leu)
n.2857G>T
1g.151406033C=CA2479570491POGZc.3050G= (p.Arg1017=)
c.2843G= (p.Arg948=)
c.3002G= (p.Arg1001=)
c.3023G= (p.Arg1008=)
n.3150G=
c.2717G= (p.Arg906=)
c.2975G= (p.Arg992=)
c.2870G= (p.Arg957=)
c.2816G= (p.Arg939=)
c.2894G= (p.Arg965=)
c.2645G= (p.Arg882=)
c.2876G= (p.Arg959=)
c.1802G= (p.Arg601=)
n.2857G=
1g.151406033C>GCA341946818POGZc.3050G>C (p.Arg1017Pro)
c.2843G>C (p.Arg948Pro)
c.3002G>C (p.Arg1001Pro)
c.3023G>C (p.Arg1008Pro)
n.3150G>C
c.2717G>C (p.Arg906Pro)
c.2975G>C (p.Arg992Pro)
c.2870G>C (p.Arg957Pro)
c.2816G>C (p.Arg939Pro)
c.2894G>C (p.Arg965Pro)
c.2645G>C (p.Arg882Pro)
c.2876G>C (p.Arg959Pro)
c.1802G>C (p.Arg601Pro)
n.2857G>C
1g.151406033C>TCA1091025POGZc.3050G>A (p.Arg1017Gln)
c.2843G>A (p.Arg948Gln)
c.3002G>A (p.Arg1001Gln)
c.3023G>A (p.Arg1008Gln)
n.3150G>A
c.2717G>A (p.Arg906Gln)
c.2975G>A (p.Arg992Gln)
c.2870G>A (p.Arg957Gln)
c.2816G>A (p.Arg939Gln)
c.2894G>A (p.Arg965Gln)
c.2645G>A (p.Arg882Gln)
c.2876G>A (p.Arg959Gln)
c.1802G>A (p.Arg601Gln)
n.2857G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406034G>ACA353601POGZc.3049C>T (p.Arg1017Ter)
c.2842C>T (p.Arg948Ter)
c.3001C>T (p.Arg1001Ter)
c.3022C>T (p.Arg1008Ter)
n.3149C>T
c.2716C>T (p.Arg906Ter)
c.2974C>T (p.Arg992Ter)
c.2869C>T (p.Arg957Ter)
c.2815C>T (p.Arg939Ter)
c.2893C>T (p.Arg965Ter)
c.2644C>T (p.Arg882Ter)
c.2875C>T (p.Arg959Ter)
c.1801C>T (p.Arg601Ter)
n.2856C>T
ClinVar dbSNP
1g.151406034G>CCA341946825POGZc.3049C>G (p.Arg1017Gly)
c.2842C>G (p.Arg948Gly)
c.3001C>G (p.Arg1001Gly)
c.3022C>G (p.Arg1008Gly)
n.3149C>G
c.2716C>G (p.Arg906Gly)
c.2974C>G (p.Arg992Gly)
c.2869C>G (p.Arg957Gly)
c.2815C>G (p.Arg939Gly)
c.2893C>G (p.Arg965Gly)
c.2644C>G (p.Arg882Gly)
c.2875C>G (p.Arg959Gly)
c.1801C>G (p.Arg601Gly)
n.2856C>G
1g.151406034G=CA2479570492POGZc.3049C= (p.Arg1017=)
c.2842C= (p.Arg948=)
c.3001C= (p.Arg1001=)
c.3022C= (p.Arg1008=)
n.3149C=
c.2716C= (p.Arg906=)
c.2974C= (p.Arg992=)
c.2869C= (p.Arg957=)
c.2815C= (p.Arg939=)
c.2893C= (p.Arg965=)
c.2644C= (p.Arg882=)
c.2875C= (p.Arg959=)
c.1801C= (p.Arg601=)
n.2856C=
1g.151406034G>TCA420909783POGZc.3049C>A (p.Arg1017=)
c.2842C>A (p.Arg948=)
c.3001C>A (p.Arg1001=)
c.3022C>A (p.Arg1008=)
n.3149C>A
c.2716C>A (p.Arg906=)
c.2974C>A (p.Arg992=)
c.2869C>A (p.Arg957=)
c.2815C>A (p.Arg939=)
c.2893C>A (p.Arg965=)
c.2644C>A (p.Arg882=)
c.2875C>A (p.Arg959=)
c.1801C>A (p.Arg601=)
n.2856C>A
1g.151406035C>ACA341946828POGZc.3048G>T (p.Gln1016His)
c.2841G>T (p.Gln947His)
c.3000G>T (p.Gln1000His)
c.3021G>T (p.Gln1007His)
n.3148G>T
c.2715G>T (p.Gln905His)
c.2973G>T (p.Gln991His)
c.2868G>T (p.Gln956His)
c.2814G>T (p.Gln938His)
c.2892G>T (p.Gln964His)
c.2643G>T (p.Gln881His)
c.2874G>T (p.Gln958His)
c.1800G>T (p.Gln600His)
n.2855G>T
1g.151406035C>GCA341946830POGZc.3048G>C (p.Gln1016His)
c.2841G>C (p.Gln947His)
c.3000G>C (p.Gln1000His)
c.3021G>C (p.Gln1007His)
n.3148G>C
c.2715G>C (p.Gln905His)
c.2973G>C (p.Gln991His)
c.2868G>C (p.Gln956His)
c.2814G>C (p.Gln938His)
c.2892G>C (p.Gln964His)
c.2643G>C (p.Gln881His)
c.2874G>C (p.Gln958His)
c.1800G>C (p.Gln600His)
n.2855G>C
1g.151406035C>TCA420909785POGZc.3048G>A (p.Gln1016=)
c.2841G>A (p.Gln947=)
c.3000G>A (p.Gln1000=)
c.3021G>A (p.Gln1007=)
n.3148G>A
c.2715G>A (p.Gln905=)
c.2973G>A (p.Gln991=)
c.2868G>A (p.Gln956=)
c.2814G>A (p.Gln938=)
c.2892G>A (p.Gln964=)
c.2643G>A (p.Gln881=)
c.2874G>A (p.Gln958=)
c.1800G>A (p.Gln600=)
n.2855G>A
1g.151406036T>ACA341946831POGZc.3047A>T (p.Gln1016Leu)
c.2840A>T (p.Gln947Leu)
c.2999A>T (p.Gln1000Leu)
c.3020A>T (p.Gln1007Leu)
n.3147A>T
c.2714A>T (p.Gln905Leu)
c.2972A>T (p.Gln991Leu)
c.2867A>T (p.Gln956Leu)
c.2813A>T (p.Gln938Leu)
c.2891A>T (p.Gln964Leu)
c.2642A>T (p.Gln881Leu)
c.2873A>T (p.Gln958Leu)
c.1799A>T (p.Gln600Leu)
n.2854A>T
1g.151406036T>CCA341946832POGZc.3047A>G (p.Gln1016Arg)
c.2840A>G (p.Gln947Arg)
c.2999A>G (p.Gln1000Arg)
c.3020A>G (p.Gln1007Arg)
n.3147A>G
c.2714A>G (p.Gln905Arg)
c.2972A>G (p.Gln991Arg)
c.2867A>G (p.Gln956Arg)
c.2813A>G (p.Gln938Arg)
c.2891A>G (p.Gln964Arg)
c.2642A>G (p.Gln881Arg)
c.2873A>G (p.Gln958Arg)
c.1799A>G (p.Gln600Arg)
n.2854A>G
1g.151406036T>GCA341946833POGZc.3047A>C (p.Gln1016Pro)
c.2840A>C (p.Gln947Pro)
c.2999A>C (p.Gln1000Pro)
c.3020A>C (p.Gln1007Pro)
n.3147A>C
c.2714A>C (p.Gln905Pro)
c.2972A>C (p.Gln991Pro)
c.2867A>C (p.Gln956Pro)
c.2813A>C (p.Gln938Pro)
c.2891A>C (p.Gln964Pro)
c.2642A>C (p.Gln881Pro)
c.2873A>C (p.Gln958Pro)
c.1799A>C (p.Gln600Pro)
n.2854A>C
1g.151406037G>ACA341946840POGZc.3046C>T (p.Gln1016Ter)
c.2839C>T (p.Gln947Ter)
c.2998C>T (p.Gln1000Ter)
c.3019C>T (p.Gln1007Ter)
n.3146C>T
c.2713C>T (p.Gln905Ter)
c.2971C>T (p.Gln991Ter)
c.2866C>T (p.Gln956Ter)
c.2812C>T (p.Gln938Ter)
c.2890C>T (p.Gln964Ter)
c.2641C>T (p.Gln881Ter)
c.2872C>T (p.Gln958Ter)
c.1798C>T (p.Gln600Ter)
n.2853C>T
1g.151406037G>CCA341946838POGZc.3046C>G (p.Gln1016Glu)
c.2839C>G (p.Gln947Glu)
c.2998C>G (p.Gln1000Glu)
c.3019C>G (p.Gln1007Glu)
n.3146C>G
c.2713C>G (p.Gln905Glu)
c.2971C>G (p.Gln991Glu)
c.2866C>G (p.Gln956Glu)
c.2812C>G (p.Gln938Glu)
c.2890C>G (p.Gln964Glu)
c.2641C>G (p.Gln881Glu)
c.2872C>G (p.Gln958Glu)
c.1798C>G (p.Gln600Glu)
n.2853C>G
1g.151406037G>TCA341946836POGZc.3046C>A (p.Gln1016Lys)
c.2839C>A (p.Gln947Lys)
c.2998C>A (p.Gln1000Lys)
c.3019C>A (p.Gln1007Lys)
n.3146C>A
c.2713C>A (p.Gln905Lys)
c.2971C>A (p.Gln991Lys)
c.2866C>A (p.Gln956Lys)
c.2812C>A (p.Gln938Lys)
c.2890C>A (p.Gln964Lys)
c.2641C>A (p.Gln881Lys)
c.2872C>A (p.Gln958Lys)
c.1798C>A (p.Gln600Lys)
n.2853C>A
1g.151406038G>ACA420909791POGZc.3045C>T (p.Pro1015=)
c.2838C>T (p.Pro946=)
c.2997C>T (p.Pro999=)
c.3018C>T (p.Pro1006=)
n.3145C>T
c.2712C>T (p.Pro904=)
c.2970C>T (p.Pro990=)
c.2865C>T (p.Pro955=)
c.2811C>T (p.Pro937=)
c.2889C>T (p.Pro963=)
c.2640C>T (p.Pro880=)
c.2871C>T (p.Pro957=)
c.1797C>T (p.Pro599=)
n.2852C>T
1g.151406038G>CCA1091026POGZc.3045C>G (p.Pro1015=)
c.2838C>G (p.Pro946=)
c.2997C>G (p.Pro999=)
c.3018C>G (p.Pro1006=)
n.3145C>G
c.2712C>G (p.Pro904=)
c.2970C>G (p.Pro990=)
c.2865C>G (p.Pro955=)
c.2811C>G (p.Pro937=)
c.2889C>G (p.Pro963=)
c.2640C>G (p.Pro880=)
c.2871C>G (p.Pro957=)
c.1797C>G (p.Pro599=)
n.2852C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406038G=CA2479570493POGZc.3045C= (p.Pro1015=)
c.2838C= (p.Pro946=)
c.2997C= (p.Pro999=)
c.3018C= (p.Pro1006=)
n.3145C=
c.2712C= (p.Pro904=)
c.2970C= (p.Pro990=)
c.2865C= (p.Pro955=)
c.2811C= (p.Pro937=)
c.2889C= (p.Pro963=)
c.2640C= (p.Pro880=)
c.2871C= (p.Pro957=)
c.1797C= (p.Pro599=)
n.2852C=
1g.151406038G>TCA420909794POGZc.3045C>A (p.Pro1015=)
c.2838C>A (p.Pro946=)
c.2997C>A (p.Pro999=)
c.3018C>A (p.Pro1006=)
n.3145C>A
c.2712C>A (p.Pro904=)
c.2970C>A (p.Pro990=)
c.2865C>A (p.Pro955=)
c.2811C>A (p.Pro937=)
c.2889C>A (p.Pro963=)
c.2640C>A (p.Pro880=)
c.2871C>A (p.Pro957=)
c.1797C>A (p.Pro599=)
n.2852C>A
1g.151406039G>ACA341946849POGZc.3044C>T (p.Pro1015Leu)
c.2837C>T (p.Pro946Leu)
c.2996C>T (p.Pro999Leu)
c.3017C>T (p.Pro1006Leu)
n.3144C>T
c.2711C>T (p.Pro904Leu)
c.2969C>T (p.Pro990Leu)
c.2864C>T (p.Pro955Leu)
c.2810C>T (p.Pro937Leu)
c.2888C>T (p.Pro963Leu)
c.2639C>T (p.Pro880Leu)
c.2870C>T (p.Pro957Leu)
c.1796C>T (p.Pro599Leu)
n.2851C>T
gnomAD v4
1g.151406039G>CCA341946854POGZc.3044C>G (p.Pro1015Arg)
c.2837C>G (p.Pro946Arg)
c.2996C>G (p.Pro999Arg)
c.3017C>G (p.Pro1006Arg)
n.3144C>G
c.2711C>G (p.Pro904Arg)
c.2969C>G (p.Pro990Arg)
c.2864C>G (p.Pro955Arg)
c.2810C>G (p.Pro937Arg)
c.2888C>G (p.Pro963Arg)
c.2639C>G (p.Pro880Arg)
c.2870C>G (p.Pro957Arg)
c.1796C>G (p.Pro599Arg)
n.2851C>G
gnomAD v4
1g.151406039G>TCA341946855POGZc.3044C>A (p.Pro1015His)
c.2837C>A (p.Pro946His)
c.2996C>A (p.Pro999His)
c.3017C>A (p.Pro1006His)
n.3144C>A
c.2711C>A (p.Pro904His)
c.2969C>A (p.Pro990His)
c.2864C>A (p.Pro955His)
c.2810C>A (p.Pro937His)
c.2888C>A (p.Pro963His)
c.2639C>A (p.Pro880His)
c.2870C>A (p.Pro957His)
c.1796C>A (p.Pro599His)
n.2851C>A
1g.151406040G>ACA341946856POGZc.3043C>T (p.Pro1015Ser)
c.2836C>T (p.Pro946Ser)
c.2995C>T (p.Pro999Ser)
c.3016C>T (p.Pro1006Ser)
n.3143C>T
c.2710C>T (p.Pro904Ser)
c.2968C>T (p.Pro990Ser)
c.2863C>T (p.Pro955Ser)
c.2809C>T (p.Pro937Ser)
c.2887C>T (p.Pro963Ser)
c.2638C>T (p.Pro880Ser)
c.2869C>T (p.Pro957Ser)
c.1795C>T (p.Pro599Ser)
n.2850C>T
1g.151406040G>CCA341946858POGZc.3043C>G (p.Pro1015Ala)
c.2836C>G (p.Pro946Ala)
c.2995C>G (p.Pro999Ala)
c.3016C>G (p.Pro1006Ala)
n.3143C>G
c.2710C>G (p.Pro904Ala)
c.2968C>G (p.Pro990Ala)
c.2863C>G (p.Pro955Ala)
c.2809C>G (p.Pro937Ala)
c.2887C>G (p.Pro963Ala)
c.2638C>G (p.Pro880Ala)
c.2869C>G (p.Pro957Ala)
c.1795C>G (p.Pro599Ala)
n.2850C>G
gnomAD v4
1g.151406040G>TCA341946861POGZc.3043C>A (p.Pro1015Thr)
c.2836C>A (p.Pro946Thr)
c.2995C>A (p.Pro999Thr)
c.3016C>A (p.Pro1006Thr)
n.3143C>A
c.2710C>A (p.Pro904Thr)
c.2968C>A (p.Pro990Thr)
c.2863C>A (p.Pro955Thr)
c.2809C>A (p.Pro937Thr)
c.2887C>A (p.Pro963Thr)
c.2638C>A (p.Pro880Thr)
c.2869C>A (p.Pro957Thr)
c.1795C>A (p.Pro599Thr)
n.2850C>A
1g.151406041A>CCA341946868POGZc.3042T>G (p.Asn1014Lys)
c.2835T>G (p.Asn945Lys)
c.2994T>G (p.Asn998Lys)
c.3015T>G (p.Asn1005Lys)
n.3142T>G
c.2709T>G (p.Asn903Lys)
c.2967T>G (p.Asn989Lys)
c.2862T>G (p.Asn954Lys)
c.2808T>G (p.Asn936Lys)
c.2886T>G (p.Asn962Lys)
c.2637T>G (p.Asn879Lys)
c.2868T>G (p.Asn956Lys)
c.1794T>G (p.Asn598Lys)
n.2849T>G
1g.151406041A>GCA420909801POGZc.3042T>C (p.Asn1014=)
c.2835T>C (p.Asn945=)
c.2994T>C (p.Asn998=)
c.3015T>C (p.Asn1005=)
n.3142T>C
c.2709T>C (p.Asn903=)
c.2967T>C (p.Asn989=)
c.2862T>C (p.Asn954=)
c.2808T>C (p.Asn936=)
c.2886T>C (p.Asn962=)
c.2637T>C (p.Asn879=)
c.2868T>C (p.Asn956=)
c.1794T>C (p.Asn598=)
n.2849T>C
1g.151406041A>TCA341946869POGZc.3042T>A (p.Asn1014Lys)
c.2835T>A (p.Asn945Lys)
c.2994T>A (p.Asn998Lys)
c.3015T>A (p.Asn1005Lys)
n.3142T>A
c.2709T>A (p.Asn903Lys)
c.2967T>A (p.Asn989Lys)
c.2862T>A (p.Asn954Lys)
c.2808T>A (p.Asn936Lys)
c.2886T>A (p.Asn962Lys)
c.2637T>A (p.Asn879Lys)
c.2868T>A (p.Asn956Lys)
c.1794T>A (p.Asn598Lys)
n.2849T>A
1g.151406042T>ACA341946870POGZc.3041A>T (p.Asn1014Ile)
c.2834A>T (p.Asn945Ile)
c.2993A>T (p.Asn998Ile)
c.3014A>T (p.Asn1005Ile)
n.3141A>T
c.2708A>T (p.Asn903Ile)
c.2966A>T (p.Asn989Ile)
c.2861A>T (p.Asn954Ile)
c.2807A>T (p.Asn936Ile)
c.2885A>T (p.Asn962Ile)
c.2636A>T (p.Asn879Ile)
c.2867A>T (p.Asn956Ile)
c.1793A>T (p.Asn598Ile)
n.2848A>T
1g.151406042T>CCA341946871POGZc.3041A>G (p.Asn1014Ser)
c.2834A>G (p.Asn945Ser)
c.2993A>G (p.Asn998Ser)
c.3014A>G (p.Asn1005Ser)
n.3141A>G
c.2708A>G (p.Asn903Ser)
c.2966A>G (p.Asn989Ser)
c.2861A>G (p.Asn954Ser)
c.2807A>G (p.Asn936Ser)
c.2885A>G (p.Asn962Ser)
c.2636A>G (p.Asn879Ser)
c.2867A>G (p.Asn956Ser)
c.1793A>G (p.Asn598Ser)
n.2848A>G
1g.151406042T>GCA341946873POGZc.3041A>C (p.Asn1014Thr)
c.2834A>C (p.Asn945Thr)
c.2993A>C (p.Asn998Thr)
c.3014A>C (p.Asn1005Thr)
n.3141A>C
c.2708A>C (p.Asn903Thr)
c.2966A>C (p.Asn989Thr)
c.2861A>C (p.Asn954Thr)
c.2807A>C (p.Asn936Thr)
c.2885A>C (p.Asn962Thr)
c.2636A>C (p.Asn879Thr)
c.2867A>C (p.Asn956Thr)
c.1793A>C (p.Asn598Thr)
n.2848A>C
1g.151406043T>ACA341946891POGZc.3040A>T (p.Asn1014Tyr)
c.2833A>T (p.Asn945Tyr)
c.2992A>T (p.Asn998Tyr)
c.3013A>T (p.Asn1005Tyr)
n.3140A>T
c.2707A>T (p.Asn903Tyr)
c.2965A>T (p.Asn989Tyr)
c.2860A>T (p.Asn954Tyr)
c.2806A>T (p.Asn936Tyr)
c.2884A>T (p.Asn962Tyr)
c.2635A>T (p.Asn879Tyr)
c.2866A>T (p.Asn956Tyr)
c.1792A>T (p.Asn598Tyr)
n.2847A>T
1g.151406043T>CCA341946879POGZc.3040A>G (p.Asn1014Asp)
c.2833A>G (p.Asn945Asp)
c.2992A>G (p.Asn998Asp)
c.3013A>G (p.Asn1005Asp)
n.3140A>G
c.2707A>G (p.Asn903Asp)
c.2965A>G (p.Asn989Asp)
c.2860A>G (p.Asn954Asp)
c.2806A>G (p.Asn936Asp)
c.2884A>G (p.Asn962Asp)
c.2635A>G (p.Asn879Asp)
c.2866A>G (p.Asn956Asp)
c.1792A>G (p.Asn598Asp)
n.2847A>G
1g.151406043T>GCA341946877POGZc.3040A>C (p.Asn1014His)
c.2833A>C (p.Asn945His)
c.2992A>C (p.Asn998His)
c.3013A>C (p.Asn1005His)
n.3140A>C
c.2707A>C (p.Asn903His)
c.2965A>C (p.Asn989His)
c.2860A>C (p.Asn954His)
c.2806A>C (p.Asn936His)
c.2884A>C (p.Asn962His)
c.2635A>C (p.Asn879His)
c.2866A>C (p.Asn956His)
c.1792A>C (p.Asn598His)
n.2847A>C
1g.151406044T>ACA420909807POGZc.3039A>T (p.Arg1013=)
c.2832A>T (p.Arg944=)
c.2991A>T (p.Arg997=)
c.3012A>T (p.Arg1004=)
n.3139A>T
c.2706A>T (p.Arg902=)
c.2964A>T (p.Arg988=)
c.2859A>T (p.Arg953=)
c.2805A>T (p.Arg935=)
c.2883A>T (p.Arg961=)
c.2634A>T (p.Arg878=)
c.2865A>T (p.Arg955=)
c.1791A>T (p.Arg597=)
n.2846A>T
dbSNP gnomAD v2 gnomAD v4
1g.151406044T>CCA420909809POGZc.3039A>G (p.Arg1013=)
c.2832A>G (p.Arg944=)
c.2991A>G (p.Arg997=)
c.3012A>G (p.Arg1004=)
n.3139A>G
c.2706A>G (p.Arg902=)
c.2964A>G (p.Arg988=)
c.2859A>G (p.Arg953=)
c.2805A>G (p.Arg935=)
c.2883A>G (p.Arg961=)
c.2634A>G (p.Arg878=)
c.2865A>G (p.Arg955=)
c.1791A>G (p.Arg597=)
n.2846A>G
1g.151406044T>GCA420909814POGZc.3039A>C (p.Arg1013=)
c.2832A>C (p.Arg944=)
c.2991A>C (p.Arg997=)
c.3012A>C (p.Arg1004=)
n.3139A>C
c.2706A>C (p.Arg902=)
c.2964A>C (p.Arg988=)
c.2859A>C (p.Arg953=)
c.2805A>C (p.Arg935=)
c.2883A>C (p.Arg961=)
c.2634A>C (p.Arg878=)
c.2865A>C (p.Arg955=)
c.1791A>C (p.Arg597=)
n.2846A>C
1g.151406044T=CA2479570494POGZc.3039A= (p.Arg1013=)
c.2832A= (p.Arg944=)
c.2991A= (p.Arg997=)
c.3012A= (p.Arg1004=)
n.3139A=
c.2706A= (p.Arg902=)
c.2964A= (p.Arg988=)
c.2859A= (p.Arg953=)
c.2805A= (p.Arg935=)
c.2883A= (p.Arg961=)
c.2634A= (p.Arg878=)
c.2865A= (p.Arg955=)
c.1791A= (p.Arg597=)
n.2846A=
1g.151406045C>ACA341946901POGZc.3038G>T (p.Arg1013Leu)
c.2831G>T (p.Arg944Leu)
c.2990G>T (p.Arg997Leu)
c.3011G>T (p.Arg1004Leu)
n.3138G>T
c.2705G>T (p.Arg902Leu)
c.2963G>T (p.Arg988Leu)
c.2858G>T (p.Arg953Leu)
c.2804G>T (p.Arg935Leu)
c.2882G>T (p.Arg961Leu)
c.2633G>T (p.Arg878Leu)
c.2864G>T (p.Arg955Leu)
c.1790G>T (p.Arg597Leu)
n.2845G>T
COSMIC COSMIC
1g.151406045C=CA2479570495POGZc.3038G= (p.Arg1013=)
c.2831G= (p.Arg944=)
c.2990G= (p.Arg997=)
c.3011G= (p.Arg1004=)
n.3138G=
c.2705G= (p.Arg902=)
c.2963G= (p.Arg988=)
c.2858G= (p.Arg953=)
c.2804G= (p.Arg935=)
c.2882G= (p.Arg961=)
c.2633G= (p.Arg878=)
c.2864G= (p.Arg955=)
c.1790G= (p.Arg597=)
n.2845G=
1g.151406045C>GCA341946904POGZc.3038G>C (p.Arg1013Pro)
c.2831G>C (p.Arg944Pro)
c.2990G>C (p.Arg997Pro)
c.3011G>C (p.Arg1004Pro)
n.3138G>C
c.2705G>C (p.Arg902Pro)
c.2963G>C (p.Arg988Pro)
c.2858G>C (p.Arg953Pro)
c.2804G>C (p.Arg935Pro)
c.2882G>C (p.Arg961Pro)
c.2633G>C (p.Arg878Pro)
c.2864G>C (p.Arg955Pro)
c.1790G>C (p.Arg597Pro)
n.2845G>C
1g.151406045C>TCA1091027POGZc.3038G>A (p.Arg1013Gln)
c.2831G>A (p.Arg944Gln)
c.2990G>A (p.Arg997Gln)
c.3011G>A (p.Arg1004Gln)
n.3138G>A
c.2705G>A (p.Arg902Gln)
c.2963G>A (p.Arg988Gln)
c.2858G>A (p.Arg953Gln)
c.2804G>A (p.Arg935Gln)
c.2882G>A (p.Arg961Gln)
c.2633G>A (p.Arg878Gln)
c.2864G>A (p.Arg955Gln)
c.1790G>A (p.Arg597Gln)
n.2845G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406046G>ACA341946913POGZc.3037C>T (p.Arg1013Ter)
c.2830C>T (p.Arg944Ter)
c.2989C>T (p.Arg997Ter)
c.3010C>T (p.Arg1004Ter)
n.3137C>T
c.2704C>T (p.Arg902Ter)
c.2962C>T (p.Arg988Ter)
c.2857C>T (p.Arg953Ter)
c.2803C>T (p.Arg935Ter)
c.2881C>T (p.Arg961Ter)
c.2632C>T (p.Arg878Ter)
c.2863C>T (p.Arg955Ter)
c.1789C>T (p.Arg597Ter)
n.2844C>T
ClinVar dbSNP
1g.151406046G>CCA341946919POGZc.3037C>G (p.Arg1013Gly)
c.2830C>G (p.Arg944Gly)
c.2989C>G (p.Arg997Gly)
c.3010C>G (p.Arg1004Gly)
n.3137C>G
c.2704C>G (p.Arg902Gly)
c.2962C>G (p.Arg988Gly)
c.2857C>G (p.Arg953Gly)
c.2803C>G (p.Arg935Gly)
c.2881C>G (p.Arg961Gly)
c.2632C>G (p.Arg878Gly)
c.2863C>G (p.Arg955Gly)
c.1789C>G (p.Arg597Gly)
n.2844C>G
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.151406046G=CA2479570496POGZc.3037C= (p.Arg1013=)
c.2830C= (p.Arg944=)
c.2989C= (p.Arg997=)
c.3010C= (p.Arg1004=)
n.3137C=
c.2704C= (p.Arg902=)
c.2962C= (p.Arg988=)
c.2857C= (p.Arg953=)
c.2803C= (p.Arg935=)
c.2881C= (p.Arg961=)
c.2632C= (p.Arg878=)
c.2863C= (p.Arg955=)
c.1789C= (p.Arg597=)
n.2844C=
1g.151406046G>TCA420909817POGZc.3037C>A (p.Arg1013=)
c.2830C>A (p.Arg944=)
c.2989C>A (p.Arg997=)
c.3010C>A (p.Arg1004=)
n.3137C>A
c.2704C>A (p.Arg902=)
c.2962C>A (p.Arg988=)
c.2857C>A (p.Arg953=)
c.2803C>A (p.Arg935=)
c.2881C>A (p.Arg961=)
c.2632C>A (p.Arg878=)
c.2863C>A (p.Arg955=)
c.1789C>A (p.Arg597=)
n.2844C>A
dbSNP gnomAD v3 gnomAD v4
1g.151406047G>ACA420909820POGZc.3036C>T (p.Phe1012=)
c.2829C>T (p.Phe943=)
c.2988C>T (p.Phe996=)
c.3009C>T (p.Phe1003=)
n.3136C>T
c.2703C>T (p.Phe901=)
c.2961C>T (p.Phe987=)
c.2856C>T (p.Phe952=)
c.2802C>T (p.Phe934=)
c.2880C>T (p.Phe960=)
c.2631C>T (p.Phe877=)
c.2862C>T (p.Phe954=)
c.1788C>T (p.Phe596=)
n.2843C>T
dbSNP gnomAD v2 gnomAD v4
1g.151406047G>CCA341946924POGZc.3036C>G (p.Phe1012Leu)
c.2829C>G (p.Phe943Leu)
c.2988C>G (p.Phe996Leu)
c.3009C>G (p.Phe1003Leu)
n.3136C>G
c.2703C>G (p.Phe901Leu)
c.2961C>G (p.Phe987Leu)
c.2856C>G (p.Phe952Leu)
c.2802C>G (p.Phe934Leu)
c.2880C>G (p.Phe960Leu)
c.2631C>G (p.Phe877Leu)
c.2862C>G (p.Phe954Leu)
c.1788C>G (p.Phe596Leu)
n.2843C>G
1g.151406047G=CA2479570497POGZc.3036C= (p.Phe1012=)
c.2829C= (p.Phe943=)
c.2988C= (p.Phe996=)
c.3009C= (p.Phe1003=)
n.3136C=
c.2703C= (p.Phe901=)
c.2961C= (p.Phe987=)
c.2856C= (p.Phe952=)
c.2802C= (p.Phe934=)
c.2880C= (p.Phe960=)
c.2631C= (p.Phe877=)
c.2862C= (p.Phe954=)
c.1788C= (p.Phe596=)
n.2843C=
1g.151406047G>TCA341946930POGZc.3036C>A (p.Phe1012Leu)
c.2829C>A (p.Phe943Leu)
c.2988C>A (p.Phe996Leu)
c.3009C>A (p.Phe1003Leu)
n.3136C>A
c.2703C>A (p.Phe901Leu)
c.2961C>A (p.Phe987Leu)
c.2856C>A (p.Phe952Leu)
c.2802C>A (p.Phe934Leu)
c.2880C>A (p.Phe960Leu)
c.2631C>A (p.Phe877Leu)
c.2862C>A (p.Phe954Leu)
c.1788C>A (p.Phe596Leu)
n.2843C>A
1g.151406048A=CA2479570498POGZc.3035T= (p.Phe1012=)
c.2828T= (p.Phe943=)
c.2987T= (p.Phe996=)
c.3008T= (p.Phe1003=)
n.3135T=
c.2702T= (p.Phe901=)
c.2960T= (p.Phe987=)
c.2855T= (p.Phe952=)
c.2801T= (p.Phe934=)
c.2879T= (p.Phe960=)
c.2630T= (p.Phe877=)
c.2861T= (p.Phe954=)
c.1787T= (p.Phe596=)
n.2842T=
1g.151406048A>CCA341946937POGZc.3035T>G (p.Phe1012Cys)
c.2828T>G (p.Phe943Cys)
c.2987T>G (p.Phe996Cys)
c.3008T>G (p.Phe1003Cys)
n.3135T>G
c.2702T>G (p.Phe901Cys)
c.2960T>G (p.Phe987Cys)
c.2855T>G (p.Phe952Cys)
c.2801T>G (p.Phe934Cys)
c.2879T>G (p.Phe960Cys)
c.2630T>G (p.Phe877Cys)
c.2861T>G (p.Phe954Cys)
c.1787T>G (p.Phe596Cys)
n.2842T>G
dbSNP
1g.151406048A>GCA341946940POGZc.3035T>C (p.Phe1012Ser)
c.2828T>C (p.Phe943Ser)
c.2987T>C (p.Phe996Ser)
c.3008T>C (p.Phe1003Ser)
n.3135T>C
c.2702T>C (p.Phe901Ser)
c.2960T>C (p.Phe987Ser)
c.2855T>C (p.Phe952Ser)
c.2801T>C (p.Phe934Ser)
c.2879T>C (p.Phe960Ser)
c.2630T>C (p.Phe877Ser)
c.2861T>C (p.Phe954Ser)
c.1787T>C (p.Phe596Ser)
n.2842T>C
1g.151406048A>TCA341946943POGZc.3035T>A (p.Phe1012Tyr)
c.2828T>A (p.Phe943Tyr)
c.2987T>A (p.Phe996Tyr)
c.3008T>A (p.Phe1003Tyr)
n.3135T>A
c.2702T>A (p.Phe901Tyr)
c.2960T>A (p.Phe987Tyr)
c.2855T>A (p.Phe952Tyr)
c.2801T>A (p.Phe934Tyr)
c.2879T>A (p.Phe960Tyr)
c.2630T>A (p.Phe877Tyr)
c.2861T>A (p.Phe954Tyr)
c.1787T>A (p.Phe596Tyr)
n.2842T>A
1g.151406049A>CCA341946948POGZc.3034T>G (p.Phe1012Val)
c.2827T>G (p.Phe943Val)
c.2986T>G (p.Phe996Val)
c.3007T>G (p.Phe1003Val)
n.3134T>G
c.2701T>G (p.Phe901Val)
c.2959T>G (p.Phe987Val)
c.2854T>G (p.Phe952Val)
c.2800T>G (p.Phe934Val)
c.2878T>G (p.Phe960Val)
c.2629T>G (p.Phe877Val)
c.2860T>G (p.Phe954Val)
c.1786T>G (p.Phe596Val)
n.2841T>G
1g.151406049A>GCA341946952POGZc.3034T>C (p.Phe1012Leu)
c.2827T>C (p.Phe943Leu)
c.2986T>C (p.Phe996Leu)
c.3007T>C (p.Phe1003Leu)
n.3134T>C
c.2701T>C (p.Phe901Leu)
c.2959T>C (p.Phe987Leu)
c.2854T>C (p.Phe952Leu)
c.2800T>C (p.Phe934Leu)
c.2878T>C (p.Phe960Leu)
c.2629T>C (p.Phe877Leu)
c.2860T>C (p.Phe954Leu)
c.1786T>C (p.Phe596Leu)
n.2841T>C
1g.151406049A>TCA341946957POGZc.3034T>A (p.Phe1012Ile)
c.2827T>A (p.Phe943Ile)
c.2986T>A (p.Phe996Ile)
c.3007T>A (p.Phe1003Ile)
n.3134T>A
c.2701T>A (p.Phe901Ile)
c.2959T>A (p.Phe987Ile)
c.2854T>A (p.Phe952Ile)
c.2800T>A (p.Phe934Ile)
c.2878T>A (p.Phe960Ile)
c.2629T>A (p.Phe877Ile)
c.2860T>A (p.Phe954Ile)
c.1786T>A (p.Phe596Ile)
n.2841T>A
1g.151406050G>ACA420909832POGZc.3033C>T (p.His1011=)
c.2826C>T (p.His942=)
c.2985C>T (p.His995=)
c.3006C>T (p.His1002=)
n.3133C>T
c.2700C>T (p.His900=)
c.2958C>T (p.His986=)
c.2853C>T (p.His951=)
c.2799C>T (p.His933=)
c.2877C>T (p.His959=)
c.2628C>T (p.His876=)
c.2859C>T (p.His953=)
c.1785C>T (p.His595=)
n.2840C>T
1g.151406050G>CCA1091028POGZc.3033C>G (p.His1011Gln)
c.2826C>G (p.His942Gln)
c.2985C>G (p.His995Gln)
c.3006C>G (p.His1002Gln)
n.3133C>G
c.2700C>G (p.His900Gln)
c.2958C>G (p.His986Gln)
c.2853C>G (p.His951Gln)
c.2799C>G (p.His933Gln)
c.2877C>G (p.His959Gln)
c.2628C>G (p.His876Gln)
c.2859C>G (p.His953Gln)
c.1785C>G (p.His595Gln)
n.2840C>G
dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406050G=CA2479570499POGZc.3033C= (p.His1011=)
c.2826C= (p.His942=)
c.2985C= (p.His995=)
c.3006C= (p.His1002=)
n.3133C=
c.2700C= (p.His900=)
c.2958C= (p.His986=)
c.2853C= (p.His951=)
c.2799C= (p.His933=)
c.2877C= (p.His959=)
c.2628C= (p.His876=)
c.2859C= (p.His953=)
c.1785C= (p.His595=)
n.2840C=
1g.151406050G>TCA341946960POGZc.3033C>A (p.His1011Gln)
c.2826C>A (p.His942Gln)
c.2985C>A (p.His995Gln)
c.3006C>A (p.His1002Gln)
n.3133C>A
c.2700C>A (p.His900Gln)
c.2958C>A (p.His986Gln)
c.2853C>A (p.His951Gln)
c.2799C>A (p.His933Gln)
c.2877C>A (p.His959Gln)
c.2628C>A (p.His876Gln)
c.2859C>A (p.His953Gln)
c.1785C>A (p.His595Gln)
n.2840C>A
1g.151406051T>ACA341946965POGZc.3032A>T (p.His1011Leu)
c.2825A>T (p.His942Leu)
c.2984A>T (p.His995Leu)
c.3005A>T (p.His1002Leu)
n.3132A>T
c.2699A>T (p.His900Leu)
c.2957A>T (p.His986Leu)
c.2852A>T (p.His951Leu)
c.2798A>T (p.His933Leu)
c.2876A>T (p.His959Leu)
c.2627A>T (p.His876Leu)
c.2858A>T (p.His953Leu)
c.1784A>T (p.His595Leu)
n.2839A>T
1g.151406051T>CCA341946971POGZc.3032A>G (p.His1011Arg)
c.2825A>G (p.His942Arg)
c.2984A>G (p.His995Arg)
c.3005A>G (p.His1002Arg)
n.3132A>G
c.2699A>G (p.His900Arg)
c.2957A>G (p.His986Arg)
c.2852A>G (p.His951Arg)
c.2798A>G (p.His933Arg)
c.2876A>G (p.His959Arg)
c.2627A>G (p.His876Arg)
c.2858A>G (p.His953Arg)
c.1784A>G (p.His595Arg)
n.2839A>G
gnomAD v4
1g.151406051T>GCA341946968POGZc.3032A>C (p.His1011Pro)
c.2825A>C (p.His942Pro)
c.2984A>C (p.His995Pro)
c.3005A>C (p.His1002Pro)
n.3132A>C
c.2699A>C (p.His900Pro)
c.2957A>C (p.His986Pro)
c.2852A>C (p.His951Pro)
c.2798A>C (p.His933Pro)
c.2876A>C (p.His959Pro)
c.2627A>C (p.His876Pro)
c.2858A>C (p.His953Pro)
c.1784A>C (p.His595Pro)
n.2839A>C
1g.151406052G>ACA341946976POGZc.3031C>T (p.His1011Tyr)
c.2824C>T (p.His942Tyr)
c.2983C>T (p.His995Tyr)
c.3004C>T (p.His1002Tyr)
n.3131C>T
c.2698C>T (p.His900Tyr)
c.2956C>T (p.His986Tyr)
c.2851C>T (p.His951Tyr)
c.2797C>T (p.His933Tyr)
c.2875C>T (p.His959Tyr)
c.2626C>T (p.His876Tyr)
c.2857C>T (p.His953Tyr)
c.1783C>T (p.His595Tyr)
n.2838C>T
1g.151406052G>CCA341946983POGZc.3031C>G (p.His1011Asp)
c.2824C>G (p.His942Asp)
c.2983C>G (p.His995Asp)
c.3004C>G (p.His1002Asp)
n.3131C>G
c.2698C>G (p.His900Asp)
c.2956C>G (p.His986Asp)
c.2851C>G (p.His951Asp)
c.2797C>G (p.His933Asp)
c.2875C>G (p.His959Asp)
c.2626C>G (p.His876Asp)
c.2857C>G (p.His953Asp)
c.1783C>G (p.His595Asp)
n.2838C>G
1g.151406052G>TCA341946979POGZc.3031C>A (p.His1011Asn)
c.2824C>A (p.His942Asn)
c.2983C>A (p.His995Asn)
c.3004C>A (p.His1002Asn)
n.3131C>A
c.2698C>A (p.His900Asn)
c.2956C>A (p.His986Asn)
c.2851C>A (p.His951Asn)
c.2797C>A (p.His933Asn)
c.2875C>A (p.His959Asn)
c.2626C>A (p.His876Asn)
c.2857C>A (p.His953Asn)
c.1783C>A (p.His595Asn)
n.2838C>A
1g.151406053T>ACA341946989POGZc.3030A>T (p.Glu1010Asp)
c.2823A>T (p.Glu941Asp)
c.2982A>T (p.Glu994Asp)
c.3003A>T (p.Glu1001Asp)
n.3130A>T
c.2697A>T (p.Glu899Asp)
c.2955A>T (p.Glu985Asp)
c.2850A>T (p.Glu950Asp)
c.2796A>T (p.Glu932Asp)
c.2874A>T (p.Glu958Asp)
c.2625A>T (p.Glu875Asp)
c.2856A>T (p.Glu952Asp)
c.1782A>T (p.Glu594Asp)
n.2837A>T
1g.151406053T>CCA420909845POGZc.3030A>G (p.Glu1010=)
c.2823A>G (p.Glu941=)
c.2982A>G (p.Glu994=)
c.3003A>G (p.Glu1001=)
n.3130A>G
c.2697A>G (p.Glu899=)
c.2955A>G (p.Glu985=)
c.2850A>G (p.Glu950=)
c.2796A>G (p.Glu932=)
c.2874A>G (p.Glu958=)
c.2625A>G (p.Glu875=)
c.2856A>G (p.Glu952=)
c.1782A>G (p.Glu594=)
n.2837A>G
1g.151406053T>GCA341946992POGZc.3030A>C (p.Glu1010Asp)
c.2823A>C (p.Glu941Asp)
c.2982A>C (p.Glu994Asp)
c.3003A>C (p.Glu1001Asp)
n.3130A>C
c.2697A>C (p.Glu899Asp)
c.2955A>C (p.Glu985Asp)
c.2850A>C (p.Glu950Asp)
c.2796A>C (p.Glu932Asp)
c.2874A>C (p.Glu958Asp)
c.2625A>C (p.Glu875Asp)
c.2856A>C (p.Glu952Asp)
c.1782A>C (p.Glu594Asp)
n.2837A>C
1g.151406054T>ACA341947000POGZc.3029A>T (p.Glu1010Val)
c.2822A>T (p.Glu941Val)
c.2981A>T (p.Glu994Val)
c.3002A>T (p.Glu1001Val)
n.3129A>T
c.2696A>T (p.Glu899Val)
c.2954A>T (p.Glu985Val)
c.2849A>T (p.Glu950Val)
c.2795A>T (p.Glu932Val)
c.2873A>T (p.Glu958Val)
c.2624A>T (p.Glu875Val)
c.2855A>T (p.Glu952Val)
c.1781A>T (p.Glu594Val)
n.2836A>T
1g.151406054T>CCA341947004POGZc.3029A>G (p.Glu1010Gly)
c.2822A>G (p.Glu941Gly)
c.2981A>G (p.Glu994Gly)
c.3002A>G (p.Glu1001Gly)
n.3129A>G
c.2696A>G (p.Glu899Gly)
c.2954A>G (p.Glu985Gly)
c.2849A>G (p.Glu950Gly)
c.2795A>G (p.Glu932Gly)
c.2873A>G (p.Glu958Gly)
c.2624A>G (p.Glu875Gly)
c.2855A>G (p.Glu952Gly)
c.1781A>G (p.Glu594Gly)
n.2836A>G
1g.151406054T>GCA341947007POGZc.3029A>C (p.Glu1010Ala)
c.2822A>C (p.Glu941Ala)
c.2981A>C (p.Glu994Ala)
c.3002A>C (p.Glu1001Ala)
n.3129A>C
c.2696A>C (p.Glu899Ala)
c.2954A>C (p.Glu985Ala)
c.2849A>C (p.Glu950Ala)
c.2795A>C (p.Glu932Ala)
c.2873A>C (p.Glu958Ala)
c.2624A>C (p.Glu875Ala)
c.2855A>C (p.Glu952Ala)
c.1781A>C (p.Glu594Ala)
n.2836A>C
1g.151406055C>ACA341947010POGZc.3028G>T (p.Glu1010Ter)
c.2821G>T (p.Glu941Ter)
c.2980G>T (p.Glu994Ter)
c.3001G>T (p.Glu1001Ter)
n.3128G>T
c.2695G>T (p.Glu899Ter)
c.2953G>T (p.Glu985Ter)
c.2848G>T (p.Glu950Ter)
c.2794G>T (p.Glu932Ter)
c.2872G>T (p.Glu958Ter)
c.2623G>T (p.Glu875Ter)
c.2854G>T (p.Glu952Ter)
c.1780G>T (p.Glu594Ter)
n.2835G>T
1g.151406055C=CA2479570500POGZc.3028G= (p.Glu1010=)
c.2821G= (p.Glu941=)
c.2980G= (p.Glu994=)
c.3001G= (p.Glu1001=)
n.3128G=
c.2695G= (p.Glu899=)
c.2953G= (p.Glu985=)
c.2848G= (p.Glu950=)
c.2794G= (p.Glu932=)
c.2872G= (p.Glu958=)
c.2623G= (p.Glu875=)
c.2854G= (p.Glu952=)
c.1780G= (p.Glu594=)
n.2835G=
1g.151406055C>GCA341947012POGZc.3028G>C (p.Glu1010Gln)
c.2821G>C (p.Glu941Gln)
c.2980G>C (p.Glu994Gln)
c.3001G>C (p.Glu1001Gln)
n.3128G>C
c.2695G>C (p.Glu899Gln)
c.2953G>C (p.Glu985Gln)
c.2848G>C (p.Glu950Gln)
c.2794G>C (p.Glu932Gln)
c.2872G>C (p.Glu958Gln)
c.2623G>C (p.Glu875Gln)
c.2854G>C (p.Glu952Gln)
c.1780G>C (p.Glu594Gln)
n.2835G>C
1g.151406055C>TCA341947017POGZc.3028G>A (p.Glu1010Lys)
c.2821G>A (p.Glu941Lys)
c.2980G>A (p.Glu994Lys)
c.3001G>A (p.Glu1001Lys)
n.3128G>A
c.2695G>A (p.Glu899Lys)
c.2953G>A (p.Glu985Lys)
c.2848G>A (p.Glu950Lys)
c.2794G>A (p.Glu932Lys)
c.2872G>A (p.Glu958Lys)
c.2623G>A (p.Glu875Lys)
c.2854G>A (p.Glu952Lys)
c.1780G>A (p.Glu594Lys)
n.2835G>A
dbSNP gnomAD v2
1g.151406056A=CA2479570501POGZc.3027T= (p.Ala1009=)
c.2820T= (p.Ala940=)
c.2979T= (p.Ala993=)
c.3000T= (p.Ala1000=)
n.3127T=
c.2694T= (p.Ala898=)
c.2952T= (p.Ala984=)
c.2847T= (p.Ala949=)
c.2793T= (p.Ala931=)
c.2871T= (p.Ala957=)
c.2622T= (p.Ala874=)
c.2853T= (p.Ala951=)
c.1779T= (p.Ala593=)
n.2834T=
1g.151406056A>CCA420909851POGZc.3027T>G (p.Ala1009=)
c.2820T>G (p.Ala940=)
c.2979T>G (p.Ala993=)
c.3000T>G (p.Ala1000=)
n.3127T>G
c.2694T>G (p.Ala898=)
c.2952T>G (p.Ala984=)
c.2847T>G (p.Ala949=)
c.2793T>G (p.Ala931=)
c.2871T>G (p.Ala957=)
c.2622T>G (p.Ala874=)
c.2853T>G (p.Ala951=)
c.1779T>G (p.Ala593=)
n.2834T>G
1g.151406056A>GCA420909852POGZc.3027T>C (p.Ala1009=)
c.2820T>C (p.Ala940=)
c.2979T>C (p.Ala993=)
c.3000T>C (p.Ala1000=)
n.3127T>C
c.2694T>C (p.Ala898=)
c.2952T>C (p.Ala984=)
c.2847T>C (p.Ala949=)
c.2793T>C (p.Ala931=)
c.2871T>C (p.Ala957=)
c.2622T>C (p.Ala874=)
c.2853T>C (p.Ala951=)
c.1779T>C (p.Ala593=)
n.2834T>C
dbSNP
1g.151406056A>TCA420909853POGZc.3027T>A (p.Ala1009=)
c.2820T>A (p.Ala940=)
c.2979T>A (p.Ala993=)
c.3000T>A (p.Ala1000=)
n.3127T>A
c.2694T>A (p.Ala898=)
c.2952T>A (p.Ala984=)
c.2847T>A (p.Ala949=)
c.2793T>A (p.Ala931=)
c.2871T>A (p.Ala957=)
c.2622T>A (p.Ala874=)
c.2853T>A (p.Ala951=)
c.1779T>A (p.Ala593=)
n.2834T>A
1g.151406057G>ACA341947029POGZc.3026C>T (p.Ala1009Val)
c.2819C>T (p.Ala940Val)
c.2978C>T (p.Ala993Val)
c.2999C>T (p.Ala1000Val)
n.3126C>T
c.2693C>T (p.Ala898Val)
c.2951C>T (p.Ala984Val)
c.2846C>T (p.Ala949Val)
c.2792C>T (p.Ala931Val)
c.2870C>T (p.Ala957Val)
c.2621C>T (p.Ala874Val)
c.2852C>T (p.Ala951Val)
c.1778C>T (p.Ala593Val)
n.2833C>T
1g.151406057G>CCA341947031POGZc.3026C>G (p.Ala1009Gly)
c.2819C>G (p.Ala940Gly)
c.2978C>G (p.Ala993Gly)
c.2999C>G (p.Ala1000Gly)
n.3126C>G
c.2693C>G (p.Ala898Gly)
c.2951C>G (p.Ala984Gly)
c.2846C>G (p.Ala949Gly)
c.2792C>G (p.Ala931Gly)
c.2870C>G (p.Ala957Gly)
c.2621C>G (p.Ala874Gly)
c.2852C>G (p.Ala951Gly)
c.1778C>G (p.Ala593Gly)
n.2833C>G
1g.151406057G>TCA341947035POGZc.3026C>A (p.Ala1009Asp)
c.2819C>A (p.Ala940Asp)
c.2978C>A (p.Ala993Asp)
c.2999C>A (p.Ala1000Asp)
n.3126C>A
c.2693C>A (p.Ala898Asp)
c.2951C>A (p.Ala984Asp)
c.2846C>A (p.Ala949Asp)
c.2792C>A (p.Ala931Asp)
c.2870C>A (p.Ala957Asp)
c.2621C>A (p.Ala874Asp)
c.2852C>A (p.Ala951Asp)
c.1778C>A (p.Ala593Asp)
n.2833C>A
1g.151406058C>ACA341947050POGZc.3025G>T (p.Ala1009Ser)
c.2818G>T (p.Ala940Ser)
c.2977G>T (p.Ala993Ser)
c.2998G>T (p.Ala1000Ser)
n.3125G>T
c.2692G>T (p.Ala898Ser)
c.2950G>T (p.Ala984Ser)
c.2845G>T (p.Ala949Ser)
c.2791G>T (p.Ala931Ser)
c.2869G>T (p.Ala957Ser)
c.2620G>T (p.Ala874Ser)
c.2851G>T (p.Ala951Ser)
c.1777G>T (p.Ala593Ser)
n.2832G>T
1g.151406058C>GCA341947044POGZc.3025G>C (p.Ala1009Pro)
c.2818G>C (p.Ala940Pro)
c.2977G>C (p.Ala993Pro)
c.2998G>C (p.Ala1000Pro)
n.3125G>C
c.2692G>C (p.Ala898Pro)
c.2950G>C (p.Ala984Pro)
c.2845G>C (p.Ala949Pro)
c.2791G>C (p.Ala931Pro)
c.2869G>C (p.Ala957Pro)
c.2620G>C (p.Ala874Pro)
c.2851G>C (p.Ala951Pro)
c.1777G>C (p.Ala593Pro)
n.2832G>C
1g.151406058C>TCA341947042POGZc.3025G>A (p.Ala1009Thr)
c.2818G>A (p.Ala940Thr)
c.2977G>A (p.Ala993Thr)
c.2998G>A (p.Ala1000Thr)
n.3125G>A
c.2692G>A (p.Ala898Thr)
c.2950G>A (p.Ala984Thr)
c.2845G>A (p.Ala949Thr)
c.2791G>A (p.Ala931Thr)
c.2869G>A (p.Ala957Thr)
c.2620G>A (p.Ala874Thr)
c.2851G>A (p.Ala951Thr)
c.1777G>A (p.Ala593Thr)
n.2832G>A
1g.151406059T>ACA420909860POGZc.3024A>T (p.Ala1008=)
c.2817A>T (p.Ala939=)
c.2976A>T (p.Ala992=)
c.2997A>T (p.Ala999=)
n.3124A>T
c.2691A>T (p.Ala897=)
c.2949A>T (p.Ala983=)
c.2844A>T (p.Ala948=)
c.2790A>T (p.Ala930=)
c.2868A>T (p.Ala956=)
c.2619A>T (p.Ala873=)
c.2850A>T (p.Ala950=)
c.1776A>T (p.Ala592=)
n.2831A>T
dbSNP
1g.151406059T>CCA420909861POGZc.3024A>G (p.Ala1008=)
c.2817A>G (p.Ala939=)
c.2976A>G (p.Ala992=)
c.2997A>G (p.Ala999=)
n.3124A>G
c.2691A>G (p.Ala897=)
c.2949A>G (p.Ala983=)
c.2844A>G (p.Ala948=)
c.2790A>G (p.Ala930=)
c.2868A>G (p.Ala956=)
c.2619A>G (p.Ala873=)
c.2850A>G (p.Ala950=)
c.1776A>G (p.Ala592=)
n.2831A>G
1g.151406059T>GCA420909863POGZc.3024A>C (p.Ala1008=)
c.2817A>C (p.Ala939=)
c.2976A>C (p.Ala992=)
c.2997A>C (p.Ala999=)
n.3124A>C
c.2691A>C (p.Ala897=)
c.2949A>C (p.Ala983=)
c.2844A>C (p.Ala948=)
c.2790A>C (p.Ala930=)
c.2868A>C (p.Ala956=)
c.2619A>C (p.Ala873=)
c.2850A>C (p.Ala950=)
c.1776A>C (p.Ala592=)
n.2831A>C
1g.151406059T=CA2479570502POGZc.3024A= (p.Ala1008=)
c.2817A= (p.Ala939=)
c.2976A= (p.Ala992=)
c.2997A= (p.Ala999=)
n.3124A=
c.2691A= (p.Ala897=)
c.2949A= (p.Ala983=)
c.2844A= (p.Ala948=)
c.2790A= (p.Ala930=)
c.2868A= (p.Ala956=)
c.2619A= (p.Ala873=)
c.2850A= (p.Ala950=)
c.1776A= (p.Ala592=)
n.2831A=
1g.151406060G>ACA341947056POGZc.3023C>T (p.Ala1008Val)
c.2816C>T (p.Ala939Val)
c.2975C>T (p.Ala992Val)
c.2996C>T (p.Ala999Val)
n.3123C>T
c.2690C>T (p.Ala897Val)
c.2948C>T (p.Ala983Val)
c.2843C>T (p.Ala948Val)
c.2789C>T (p.Ala930Val)
c.2867C>T (p.Ala956Val)
c.2618C>T (p.Ala873Val)
c.2849C>T (p.Ala950Val)
c.1775C>T (p.Ala592Val)
n.2830C>T
gnomAD v4
1g.151406060G>CCA341947058POGZc.3023C>G (p.Ala1008Gly)
c.2816C>G (p.Ala939Gly)
c.2975C>G (p.Ala992Gly)
c.2996C>G (p.Ala999Gly)
n.3123C>G
c.2690C>G (p.Ala897Gly)
c.2948C>G (p.Ala983Gly)
c.2843C>G (p.Ala948Gly)
c.2789C>G (p.Ala930Gly)
c.2867C>G (p.Ala956Gly)
c.2618C>G (p.Ala873Gly)
c.2849C>G (p.Ala950Gly)
c.1775C>G (p.Ala592Gly)
n.2830C>G
1g.151406060G>TCA341947061POGZc.3023C>A (p.Ala1008Glu)
c.2816C>A (p.Ala939Glu)
c.2975C>A (p.Ala992Glu)
c.2996C>A (p.Ala999Glu)
n.3123C>A
c.2690C>A (p.Ala897Glu)
c.2948C>A (p.Ala983Glu)
c.2843C>A (p.Ala948Glu)
c.2789C>A (p.Ala930Glu)
c.2867C>A (p.Ala956Glu)
c.2618C>A (p.Ala873Glu)
c.2849C>A (p.Ala950Glu)
c.1775C>A (p.Ala592Glu)
n.2830C>A
1g.151406061C>ACA341947065POGZc.3022G>T (p.Ala1008Ser)
c.2815G>T (p.Ala939Ser)
c.2974G>T (p.Ala992Ser)
c.2995G>T (p.Ala999Ser)
n.3122G>T
c.2689G>T (p.Ala897Ser)
c.2947G>T (p.Ala983Ser)
c.2842G>T (p.Ala948Ser)
c.2788G>T (p.Ala930Ser)
c.2866G>T (p.Ala956Ser)
c.2617G>T (p.Ala873Ser)
c.2848G>T (p.Ala950Ser)
c.1774G>T (p.Ala592Ser)
n.2829G>T
1g.151406061C>GCA341947068POGZc.3022G>C (p.Ala1008Pro)
c.2815G>C (p.Ala939Pro)
c.2974G>C (p.Ala992Pro)
c.2995G>C (p.Ala999Pro)
n.3122G>C
c.2689G>C (p.Ala897Pro)
c.2947G>C (p.Ala983Pro)
c.2842G>C (p.Ala948Pro)
c.2788G>C (p.Ala930Pro)
c.2866G>C (p.Ala956Pro)
c.2617G>C (p.Ala873Pro)
c.2848G>C (p.Ala950Pro)
c.1774G>C (p.Ala592Pro)
n.2829G>C
1g.151406061C>TCA341947079POGZc.3022G>A (p.Ala1008Thr)
c.2815G>A (p.Ala939Thr)
c.2974G>A (p.Ala992Thr)
c.2995G>A (p.Ala999Thr)
n.3122G>A
c.2689G>A (p.Ala897Thr)
c.2947G>A (p.Ala983Thr)
c.2842G>A (p.Ala948Thr)
c.2788G>A (p.Ala930Thr)
c.2866G>A (p.Ala956Thr)
c.2617G>A (p.Ala873Thr)
c.2848G>A (p.Ala950Thr)
c.1774G>A (p.Ala592Thr)
n.2829G>A
1g.151406062C>ACA341947087POGZc.3021G>T (p.Gln1007His)
c.2814G>T (p.Gln938His)
c.2973G>T (p.Gln991His)
c.2994G>T (p.Gln998His)
n.3121G>T
c.2688G>T (p.Gln896His)
c.2946G>T (p.Gln982His)
c.2841G>T (p.Gln947His)
c.2787G>T (p.Gln929His)
c.2865G>T (p.Gln955His)
c.2616G>T (p.Gln872His)
c.2847G>T (p.Gln949His)
c.1773G>T (p.Gln591His)
n.2828G>T
1g.151406062C>GCA341947089POGZc.3021G>C (p.Gln1007His)
c.2814G>C (p.Gln938His)
c.2973G>C (p.Gln991His)
c.2994G>C (p.Gln998His)
n.3121G>C
c.2688G>C (p.Gln896His)
c.2946G>C (p.Gln982His)
c.2841G>C (p.Gln947His)
c.2787G>C (p.Gln929His)
c.2865G>C (p.Gln955His)
c.2616G>C (p.Gln872His)
c.2847G>C (p.Gln949His)
c.1773G>C (p.Gln591His)
n.2828G>C
1g.151406062C>TCA420909874POGZc.3021G>A (p.Gln1007=)
c.2814G>A (p.Gln938=)
c.2973G>A (p.Gln991=)
c.2994G>A (p.Gln998=)
n.3121G>A
c.2688G>A (p.Gln896=)
c.2946G>A (p.Gln982=)
c.2841G>A (p.Gln947=)
c.2787G>A (p.Gln929=)
c.2865G>A (p.Gln955=)
c.2616G>A (p.Gln872=)
c.2847G>A (p.Gln949=)
c.1773G>A (p.Gln591=)
n.2828G>A
gnomAD v4
1g.151406063T>ACA341947092POGZc.3020A>T (p.Gln1007Leu)
c.2813A>T (p.Gln938Leu)
c.2972A>T (p.Gln991Leu)
c.2993A>T (p.Gln998Leu)
n.3120A>T
c.2687A>T (p.Gln896Leu)
c.2945A>T (p.Gln982Leu)
c.2840A>T (p.Gln947Leu)
c.2786A>T (p.Gln929Leu)
c.2864A>T (p.Gln955Leu)
c.2615A>T (p.Gln872Leu)
c.2846A>T (p.Gln949Leu)
c.1772A>T (p.Gln591Leu)
n.2827A>T
1g.151406063T>CCA341947094POGZc.3020A>G (p.Gln1007Arg)
c.2813A>G (p.Gln938Arg)
c.2972A>G (p.Gln991Arg)
c.2993A>G (p.Gln998Arg)
n.3120A>G
c.2687A>G (p.Gln896Arg)
c.2945A>G (p.Gln982Arg)
c.2840A>G (p.Gln947Arg)
c.2786A>G (p.Gln929Arg)
c.2864A>G (p.Gln955Arg)
c.2615A>G (p.Gln872Arg)
c.2846A>G (p.Gln949Arg)
c.1772A>G (p.Gln591Arg)
n.2827A>G
1g.151406063T>GCA341947096POGZc.3020A>C (p.Gln1007Pro)
c.2813A>C (p.Gln938Pro)
c.2972A>C (p.Gln991Pro)
c.2993A>C (p.Gln998Pro)
n.3120A>C
c.2687A>C (p.Gln896Pro)
c.2945A>C (p.Gln982Pro)
c.2840A>C (p.Gln947Pro)
c.2786A>C (p.Gln929Pro)
c.2864A>C (p.Gln955Pro)
c.2615A>C (p.Gln872Pro)
c.2846A>C (p.Gln949Pro)
c.1772A>C (p.Gln591Pro)
n.2827A>C
1g.151406064G>ACA341947106POGZc.3019C>T (p.Gln1007Ter)
c.2812C>T (p.Gln938Ter)
c.2971C>T (p.Gln991Ter)
c.2992C>T (p.Gln998Ter)
n.3119C>T
c.2686C>T (p.Gln896Ter)
c.2944C>T (p.Gln982Ter)
c.2839C>T (p.Gln947Ter)
c.2785C>T (p.Gln929Ter)
c.2863C>T (p.Gln955Ter)
c.2614C>T (p.Gln872Ter)
c.2845C>T (p.Gln949Ter)
c.1771C>T (p.Gln591Ter)
n.2826C>T
1g.151406064G>CCA341947104POGZc.3019C>G (p.Gln1007Glu)
c.2812C>G (p.Gln938Glu)
c.2971C>G (p.Gln991Glu)
c.2992C>G (p.Gln998Glu)
n.3119C>G
c.2686C>G (p.Gln896Glu)
c.2944C>G (p.Gln982Glu)
c.2839C>G (p.Gln947Glu)
c.2785C>G (p.Gln929Glu)
c.2863C>G (p.Gln955Glu)
c.2614C>G (p.Gln872Glu)
c.2845C>G (p.Gln949Glu)
c.1771C>G (p.Gln591Glu)
n.2826C>G
1g.151406064G>TCA341947101POGZc.3019C>A (p.Gln1007Lys)
c.2812C>A (p.Gln938Lys)
c.2971C>A (p.Gln991Lys)
c.2992C>A (p.Gln998Lys)
n.3119C>A
c.2686C>A (p.Gln896Lys)
c.2944C>A (p.Gln982Lys)
c.2839C>A (p.Gln947Lys)
c.2785C>A (p.Gln929Lys)
c.2863C>A (p.Gln955Lys)
c.2614C>A (p.Gln872Lys)
c.2845C>A (p.Gln949Lys)
c.1771C>A (p.Gln591Lys)
n.2826C>A
1g.151406065T>ACA341947110POGZc.3018A>T (p.Glu1006Asp)
c.2811A>T (p.Glu937Asp)
c.2970A>T (p.Glu990Asp)
c.2991A>T (p.Glu997Asp)
n.3118A>T
c.2685A>T (p.Glu895Asp)
c.2943A>T (p.Glu981Asp)
c.2838A>T (p.Glu946Asp)
c.2784A>T (p.Glu928Asp)
c.2862A>T (p.Glu954Asp)
c.2613A>T (p.Glu871Asp)
c.2844A>T (p.Glu948Asp)
c.1770A>T (p.Glu590Asp)
n.2825A>T
dbSNP
1g.151406065T>CCA420909886POGZc.3018A>G (p.Glu1006=)
c.2811A>G (p.Glu937=)
c.2970A>G (p.Glu990=)
c.2991A>G (p.Glu997=)
n.3118A>G
c.2685A>G (p.Glu895=)
c.2943A>G (p.Glu981=)
c.2838A>G (p.Glu946=)
c.2784A>G (p.Glu928=)
c.2862A>G (p.Glu954=)
c.2613A>G (p.Glu871=)
c.2844A>G (p.Glu948=)
c.1770A>G (p.Glu590=)
n.2825A>G
1g.151406065T>GCA341947111POGZc.3018A>C (p.Glu1006Asp)
c.2811A>C (p.Glu937Asp)
c.2970A>C (p.Glu990Asp)
c.2991A>C (p.Glu997Asp)
n.3118A>C
c.2685A>C (p.Glu895Asp)
c.2943A>C (p.Glu981Asp)
c.2838A>C (p.Glu946Asp)
c.2784A>C (p.Glu928Asp)
c.2862A>C (p.Glu954Asp)
c.2613A>C (p.Glu871Asp)
c.2844A>C (p.Glu948Asp)
c.1770A>C (p.Glu590Asp)
n.2825A>C
1g.151406066T>ACA341947112POGZc.3017A>T (p.Glu1006Val)
c.2810A>T (p.Glu937Val)
c.2969A>T (p.Glu990Val)
c.2990A>T (p.Glu997Val)
n.3117A>T
c.2684A>T (p.Glu895Val)
c.2942A>T (p.Glu981Val)
c.2837A>T (p.Glu946Val)
c.2783A>T (p.Glu928Val)
c.2861A>T (p.Glu954Val)
c.2612A>T (p.Glu871Val)
c.2843A>T (p.Glu948Val)
c.1769A>T (p.Glu590Val)
n.2824A>T
1g.151406066T>CCA341947114POGZc.3017A>G (p.Glu1006Gly)
c.2810A>G (p.Glu937Gly)
c.2969A>G (p.Glu990Gly)
c.2990A>G (p.Glu997Gly)
n.3117A>G
c.2684A>G (p.Glu895Gly)
c.2942A>G (p.Glu981Gly)
c.2837A>G (p.Glu946Gly)
c.2783A>G (p.Glu928Gly)
c.2861A>G (p.Glu954Gly)
c.2612A>G (p.Glu871Gly)
c.2843A>G (p.Glu948Gly)
c.1769A>G (p.Glu590Gly)
n.2824A>G
1g.151406066T>GCA341947116POGZc.3017A>C (p.Glu1006Ala)
c.2810A>C (p.Glu937Ala)
c.2969A>C (p.Glu990Ala)
c.2990A>C (p.Glu997Ala)
n.3117A>C
c.2684A>C (p.Glu895Ala)
c.2942A>C (p.Glu981Ala)
c.2837A>C (p.Glu946Ala)
c.2783A>C (p.Glu928Ala)
c.2861A>C (p.Glu954Ala)
c.2612A>C (p.Glu871Ala)
c.2843A>C (p.Glu948Ala)
c.1769A>C (p.Glu590Ala)
n.2824A>C
1g.151406067C>ACA341947119POGZc.3016G>T (p.Glu1006Ter)
c.2809G>T (p.Glu937Ter)
c.2968G>T (p.Glu990Ter)
c.2989G>T (p.Glu997Ter)
n.3116G>T
c.2683G>T (p.Glu895Ter)
c.2941G>T (p.Glu981Ter)
c.2836G>T (p.Glu946Ter)
c.2782G>T (p.Glu928Ter)
c.2860G>T (p.Glu954Ter)
c.2611G>T (p.Glu871Ter)
c.2842G>T (p.Glu948Ter)
c.1768G>T (p.Glu590Ter)
n.2823G>T
1g.151406067C=CA2479570503POGZc.3016G= (p.Glu1006=)
c.2809G= (p.Glu937=)
c.2968G= (p.Glu990=)
c.2989G= (p.Glu997=)
n.3116G=
c.2683G= (p.Glu895=)
c.2941G= (p.Glu981=)
c.2836G= (p.Glu946=)
c.2782G= (p.Glu928=)
c.2860G= (p.Glu954=)
c.2611G= (p.Glu871=)
c.2842G= (p.Glu948=)
c.1768G= (p.Glu590=)
n.2823G=
1g.151406067C>GCA341947126POGZc.3016G>C (p.Glu1006Gln)
c.2809G>C (p.Glu937Gln)
c.2968G>C (p.Glu990Gln)
c.2989G>C (p.Glu997Gln)
n.3116G>C
c.2683G>C (p.Glu895Gln)
c.2941G>C (p.Glu981Gln)
c.2836G>C (p.Glu946Gln)
c.2782G>C (p.Glu928Gln)
c.2860G>C (p.Glu954Gln)
c.2611G>C (p.Glu871Gln)
c.2842G>C (p.Glu948Gln)
c.1768G>C (p.Glu590Gln)
n.2823G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.151406067C>TCA341947132POGZc.3016G>A (p.Glu1006Lys)
c.2809G>A (p.Glu937Lys)
c.2968G>A (p.Glu990Lys)
c.2989G>A (p.Glu997Lys)
n.3116G>A
c.2683G>A (p.Glu895Lys)
c.2941G>A (p.Glu981Lys)
c.2836G>A (p.Glu946Lys)
c.2782G>A (p.Glu928Lys)
c.2860G>A (p.Glu954Lys)
c.2611G>A (p.Glu871Lys)
c.2842G>A (p.Glu948Lys)
c.1768G>A (p.Glu590Lys)
n.2823G>A
1g.151406068T>ACA420909889POGZc.3015A>T (p.Thr1005=)
c.2808A>T (p.Thr936=)
c.2967A>T (p.Thr989=)
c.2988A>T (p.Thr996=)
n.3115A>T
c.2682A>T (p.Thr894=)
c.2940A>T (p.Thr980=)
c.2835A>T (p.Thr945=)
c.2781A>T (p.Thr927=)
c.2859A>T (p.Thr953=)
c.2610A>T (p.Thr870=)
c.2841A>T (p.Thr947=)
c.1767A>T (p.Thr589=)
n.2822A>T
1g.151406068T>CCA420909891POGZc.3015A>G (p.Thr1005=)
c.2808A>G (p.Thr936=)
c.2967A>G (p.Thr989=)
c.2988A>G (p.Thr996=)
n.3115A>G
c.2682A>G (p.Thr894=)
c.2940A>G (p.Thr980=)
c.2835A>G (p.Thr945=)
c.2781A>G (p.Thr927=)
c.2859A>G (p.Thr953=)
c.2610A>G (p.Thr870=)
c.2841A>G (p.Thr947=)
c.1767A>G (p.Thr589=)
n.2822A>G
1g.151406068T>GCA420909893POGZc.3015A>C (p.Thr1005=)
c.2808A>C (p.Thr936=)
c.2967A>C (p.Thr989=)
c.2988A>C (p.Thr996=)
n.3115A>C
c.2682A>C (p.Thr894=)
c.2940A>C (p.Thr980=)
c.2835A>C (p.Thr945=)
c.2781A>C (p.Thr927=)
c.2859A>C (p.Thr953=)
c.2610A>C (p.Thr870=)
c.2841A>C (p.Thr947=)
c.1767A>C (p.Thr589=)
n.2822A>C
1g.151406069G>ACA341947138POGZc.3014C>T (p.Thr1005Ile)
c.2807C>T (p.Thr936Ile)
c.2966C>T (p.Thr989Ile)
c.2987C>T (p.Thr996Ile)
n.3114C>T
c.2681C>T (p.Thr894Ile)
c.2939C>T (p.Thr980Ile)
c.2834C>T (p.Thr945Ile)
c.2780C>T (p.Thr927Ile)
c.2858C>T (p.Thr953Ile)
c.2609C>T (p.Thr870Ile)
c.2840C>T (p.Thr947Ile)
c.1766C>T (p.Thr589Ile)
n.2821C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151406069G>CCA341947141POGZc.3014C>G (p.Thr1005Arg)
c.2807C>G (p.Thr936Arg)
c.2966C>G (p.Thr989Arg)
c.2987C>G (p.Thr996Arg)
n.3114C>G
c.2681C>G (p.Thr894Arg)
c.2939C>G (p.Thr980Arg)
c.2834C>G (p.Thr945Arg)
c.2780C>G (p.Thr927Arg)
c.2858C>G (p.Thr953Arg)
c.2609C>G (p.Thr870Arg)
c.2840C>G (p.Thr947Arg)
c.1766C>G (p.Thr589Arg)
n.2821C>G
1g.151406069G=CA2479570504POGZc.3014C= (p.Thr1005=)
c.2807C= (p.Thr936=)
c.2966C= (p.Thr989=)
c.2987C= (p.Thr996=)
n.3114C=
c.2681C= (p.Thr894=)
c.2939C= (p.Thr980=)
c.2834C= (p.Thr945=)
c.2780C= (p.Thr927=)
c.2858C= (p.Thr953=)
c.2609C= (p.Thr870=)
c.2840C= (p.Thr947=)
c.1766C= (p.Thr589=)
n.2821C=
1g.151406069G>TCA341947146POGZc.3014C>A (p.Thr1005Lys)
c.2807C>A (p.Thr936Lys)
c.2966C>A (p.Thr989Lys)
c.2987C>A (p.Thr996Lys)
n.3114C>A
c.2681C>A (p.Thr894Lys)
c.2939C>A (p.Thr980Lys)
c.2834C>A (p.Thr945Lys)
c.2780C>A (p.Thr927Lys)
c.2858C>A (p.Thr953Lys)
c.2609C>A (p.Thr870Lys)
c.2840C>A (p.Thr947Lys)
c.1766C>A (p.Thr589Lys)
n.2821C>A
1g.151406070T>ACA341947160POGZc.3013A>T (p.Thr1005Ser)
c.2806A>T (p.Thr936Ser)
c.2965A>T (p.Thr989Ser)
c.2986A>T (p.Thr996Ser)
n.3113A>T
c.2680A>T (p.Thr894Ser)
c.2938A>T (p.Thr980Ser)
c.2833A>T (p.Thr945Ser)
c.2779A>T (p.Thr927Ser)
c.2857A>T (p.Thr953Ser)
c.2608A>T (p.Thr870Ser)
c.2839A>T (p.Thr947Ser)
c.1765A>T (p.Thr589Ser)
n.2820A>T
COSMIC COSMIC
1g.151406070T>CCA341947157POGZc.3013A>G (p.Thr1005Ala)
c.2806A>G (p.Thr936Ala)
c.2965A>G (p.Thr989Ala)
c.2986A>G (p.Thr996Ala)
n.3113A>G
c.2680A>G (p.Thr894Ala)
c.2938A>G (p.Thr980Ala)
c.2833A>G (p.Thr945Ala)
c.2779A>G (p.Thr927Ala)
c.2857A>G (p.Thr953Ala)
c.2608A>G (p.Thr870Ala)
c.2839A>G (p.Thr947Ala)
c.1765A>G (p.Thr589Ala)
n.2820A>G
1g.151406070T>GCA341947154POGZc.3013A>C (p.Thr1005Pro)
c.2806A>C (p.Thr936Pro)
c.2965A>C (p.Thr989Pro)
c.2986A>C (p.Thr996Pro)
n.3113A>C
c.2680A>C (p.Thr894Pro)
c.2938A>C (p.Thr980Pro)
c.2833A>C (p.Thr945Pro)
c.2779A>C (p.Thr927Pro)
c.2857A>C (p.Thr953Pro)
c.2608A>C (p.Thr870Pro)
c.2839A>C (p.Thr947Pro)
c.1765A>C (p.Thr589Pro)
n.2820A>C
1g.151406071A>CCA341947161POGZc.3012T>G (p.Asn1004Lys)
c.2805T>G (p.Asn935Lys)
c.2964T>G (p.Asn988Lys)
c.2985T>G (p.Asn995Lys)
n.3112T>G
c.2679T>G (p.Asn893Lys)
c.2937T>G (p.Asn979Lys)
c.2832T>G (p.Asn944Lys)
c.2778T>G (p.Asn926Lys)
c.2856T>G (p.Asn952Lys)
c.2607T>G (p.Asn869Lys)
c.2838T>G (p.Asn946Lys)
c.1764T>G (p.Asn588Lys)
n.2819T>G
1g.151406071A>GCA420909898POGZc.3012T>C (p.Asn1004=)
c.2805T>C (p.Asn935=)
c.2964T>C (p.Asn988=)
c.2985T>C (p.Asn995=)
n.3112T>C
c.2679T>C (p.Asn893=)
c.2937T>C (p.Asn979=)
c.2832T>C (p.Asn944=)
c.2778T>C (p.Asn926=)
c.2856T>C (p.Asn952=)
c.2607T>C (p.Asn869=)
c.2838T>C (p.Asn946=)
c.1764T>C (p.Asn588=)
n.2819T>C
gnomAD v4
1g.151406071A>TCA341947163POGZc.3012T>A (p.Asn1004Lys)
c.2805T>A (p.Asn935Lys)
c.2964T>A (p.Asn988Lys)
c.2985T>A (p.Asn995Lys)
n.3112T>A
c.2679T>A (p.Asn893Lys)
c.2937T>A (p.Asn979Lys)
c.2832T>A (p.Asn944Lys)
c.2778T>A (p.Asn926Lys)
c.2856T>A (p.Asn952Lys)
c.2607T>A (p.Asn869Lys)
c.2838T>A (p.Asn946Lys)
c.1764T>A (p.Asn588Lys)
n.2819T>A
1g.151406072T>ACA341947170POGZc.3011A>T (p.Asn1004Ile)
c.2804A>T (p.Asn935Ile)
c.2963A>T (p.Asn988Ile)
c.2984A>T (p.Asn995Ile)
n.3111A>T
c.2678A>T (p.Asn893Ile)
c.2936A>T (p.Asn979Ile)
c.2831A>T (p.Asn944Ile)
c.2777A>T (p.Asn926Ile)
c.2855A>T (p.Asn952Ile)
c.2606A>T (p.Asn869Ile)
c.2837A>T (p.Asn946Ile)
c.1763A>T (p.Asn588Ile)
n.2818A>T
1g.151406072T>CCA29569191POGZc.3011A>G (p.Asn1004Ser)
c.2804A>G (p.Asn935Ser)
c.2963A>G (p.Asn988Ser)
c.2984A>G (p.Asn995Ser)
n.3111A>G
c.2678A>G (p.Asn893Ser)
c.2936A>G (p.Asn979Ser)
c.2831A>G (p.Asn944Ser)
c.2777A>G (p.Asn926Ser)
c.2855A>G (p.Asn952Ser)
c.2606A>G (p.Asn869Ser)
c.2837A>G (p.Asn946Ser)
c.1763A>G (p.Asn588Ser)
n.2818A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406072T>GCA341947176POGZc.3011A>C (p.Asn1004Thr)
c.2804A>C (p.Asn935Thr)
c.2963A>C (p.Asn988Thr)
c.2984A>C (p.Asn995Thr)
n.3111A>C
c.2678A>C (p.Asn893Thr)
c.2936A>C (p.Asn979Thr)
c.2831A>C (p.Asn944Thr)
c.2777A>C (p.Asn926Thr)
c.2855A>C (p.Asn952Thr)
c.2606A>C (p.Asn869Thr)
c.2837A>C (p.Asn946Thr)
c.1763A>C (p.Asn588Thr)
n.2818A>C
1g.151406072T=CA2479570505POGZc.3011A= (p.Asn1004=)
c.2804A= (p.Asn935=)
c.2963A= (p.Asn988=)
c.2984A= (p.Asn995=)
n.3111A=
c.2678A= (p.Asn893=)
c.2936A= (p.Asn979=)
c.2831A= (p.Asn944=)
c.2777A= (p.Asn926=)
c.2855A= (p.Asn952=)
c.2606A= (p.Asn869=)
c.2837A= (p.Asn946=)
c.1763A= (p.Asn588=)
n.2818A=
1g.151406073T>ACA341947177POGZc.3010A>T (p.Asn1004Tyr)
c.2803A>T (p.Asn935Tyr)
c.2962A>T (p.Asn988Tyr)
c.2983A>T (p.Asn995Tyr)
n.3110A>T
c.2677A>T (p.Asn893Tyr)
c.2935A>T (p.Asn979Tyr)
c.2830A>T (p.Asn944Tyr)
c.2776A>T (p.Asn926Tyr)
c.2854A>T (p.Asn952Tyr)
c.2605A>T (p.Asn869Tyr)
c.2836A>T (p.Asn946Tyr)
c.1762A>T (p.Asn588Tyr)
n.2817A>T
1g.151406073T>CCA341947178POGZc.3010A>G (p.Asn1004Asp)
c.2803A>G (p.Asn935Asp)
c.2962A>G (p.Asn988Asp)
c.2983A>G (p.Asn995Asp)
n.3110A>G
c.2677A>G (p.Asn893Asp)
c.2935A>G (p.Asn979Asp)
c.2830A>G (p.Asn944Asp)
c.2776A>G (p.Asn926Asp)
c.2854A>G (p.Asn952Asp)
c.2605A>G (p.Asn869Asp)
c.2836A>G (p.Asn946Asp)
c.1762A>G (p.Asn588Asp)
n.2817A>G
gnomAD v4
1g.151406073T>GCA341947179POGZc.3010A>C (p.Asn1004His)
c.2803A>C (p.Asn935His)
c.2962A>C (p.Asn988His)
c.2983A>C (p.Asn995His)
n.3110A>C
c.2677A>C (p.Asn893His)
c.2935A>C (p.Asn979His)
c.2830A>C (p.Asn944His)
c.2776A>C (p.Asn926His)
c.2854A>C (p.Asn952His)
c.2605A>C (p.Asn869His)
c.2836A>C (p.Asn946His)
c.1762A>C (p.Asn588His)
n.2817A>C
1g.151406074G>ACA420909901POGZc.3009C>T (p.Cys1003=)
c.2802C>T (p.Cys934=)
c.2961C>T (p.Cys987=)
c.2982C>T (p.Cys994=)
n.3109C>T
c.2676C>T (p.Cys892=)
c.2934C>T (p.Cys978=)
c.2829C>T (p.Cys943=)
c.2775C>T (p.Cys925=)
c.2853C>T (p.Cys951=)
c.2604C>T (p.Cys868=)
c.2835C>T (p.Cys945=)
c.1761C>T (p.Cys587=)
n.2816C>T
1g.151406074G>CCA341947182POGZc.3009C>G (p.Cys1003Trp)
c.2802C>G (p.Cys934Trp)
c.2961C>G (p.Cys987Trp)
c.2982C>G (p.Cys994Trp)
n.3109C>G
c.2676C>G (p.Cys892Trp)
c.2934C>G (p.Cys978Trp)
c.2829C>G (p.Cys943Trp)
c.2775C>G (p.Cys925Trp)
c.2853C>G (p.Cys951Trp)
c.2604C>G (p.Cys868Trp)
c.2835C>G (p.Cys945Trp)
c.1761C>G (p.Cys587Trp)
n.2816C>G
1g.151406074G>TCA341947184POGZc.3009C>A (p.Cys1003Ter)
c.2802C>A (p.Cys934Ter)
c.2961C>A (p.Cys987Ter)
c.2982C>A (p.Cys994Ter)
n.3109C>A
c.2676C>A (p.Cys892Ter)
c.2934C>A (p.Cys978Ter)
c.2829C>A (p.Cys943Ter)
c.2775C>A (p.Cys925Ter)
c.2853C>A (p.Cys951Ter)
c.2604C>A (p.Cys868Ter)
c.2835C>A (p.Cys945Ter)
c.1761C>A (p.Cys587Ter)
n.2816C>A
1g.151406075C>ACA341947192POGZc.3008G>T (p.Cys1003Phe)
c.2801G>T (p.Cys934Phe)
c.2960G>T (p.Cys987Phe)
c.2981G>T (p.Cys994Phe)
n.3108G>T
c.2675G>T (p.Cys892Phe)
c.2933G>T (p.Cys978Phe)
c.2828G>T (p.Cys943Phe)
c.2774G>T (p.Cys925Phe)
c.2852G>T (p.Cys951Phe)
c.2603G>T (p.Cys868Phe)
c.2834G>T (p.Cys945Phe)
c.1760G>T (p.Cys587Phe)
n.2815G>T
1g.151406075C=CA2479570506POGZc.3008G= (p.Cys1003=)
c.2801G= (p.Cys934=)
c.2960G= (p.Cys987=)
c.2981G= (p.Cys994=)
n.3108G=
c.2675G= (p.Cys892=)
c.2933G= (p.Cys978=)
c.2828G= (p.Cys943=)
c.2774G= (p.Cys925=)
c.2852G= (p.Cys951=)
c.2603G= (p.Cys868=)
c.2834G= (p.Cys945=)
c.1760G= (p.Cys587=)
n.2815G=
1g.151406075C>GCA341947193POGZc.3008G>C (p.Cys1003Ser)
c.2801G>C (p.Cys934Ser)
c.2960G>C (p.Cys987Ser)
c.2981G>C (p.Cys994Ser)
n.3108G>C
c.2675G>C (p.Cys892Ser)
c.2933G>C (p.Cys978Ser)
c.2828G>C (p.Cys943Ser)
c.2774G>C (p.Cys925Ser)
c.2852G>C (p.Cys951Ser)
c.2603G>C (p.Cys868Ser)
c.2834G>C (p.Cys945Ser)
c.1760G>C (p.Cys587Ser)
n.2815G>C
1g.151406075C>TCA341947197POGZc.3008G>A (p.Cys1003Tyr)
c.2801G>A (p.Cys934Tyr)
c.2960G>A (p.Cys987Tyr)
c.2981G>A (p.Cys994Tyr)
n.3108G>A
c.2675G>A (p.Cys892Tyr)
c.2933G>A (p.Cys978Tyr)
c.2828G>A (p.Cys943Tyr)
c.2774G>A (p.Cys925Tyr)
c.2852G>A (p.Cys951Tyr)
c.2603G>A (p.Cys868Tyr)
c.2834G>A (p.Cys945Tyr)
c.1760G>A (p.Cys587Tyr)
n.2815G>A
dbSNP gnomAD v2 gnomAD v4
1g.151406076A>CCA341947211POGZc.3007T>G (p.Cys1003Gly)
c.2800T>G (p.Cys934Gly)
c.2959T>G (p.Cys987Gly)
c.2980T>G (p.Cys994Gly)
n.3107T>G
c.2674T>G (p.Cys892Gly)
c.2932T>G (p.Cys978Gly)
c.2827T>G (p.Cys943Gly)
c.2773T>G (p.Cys925Gly)
c.2851T>G (p.Cys951Gly)
c.2602T>G (p.Cys868Gly)
c.2833T>G (p.Cys945Gly)
c.1759T>G (p.Cys587Gly)
n.2814T>G
1g.151406076A>GCA341947208POGZc.3007T>C (p.Cys1003Arg)
c.2800T>C (p.Cys934Arg)
c.2959T>C (p.Cys987Arg)
c.2980T>C (p.Cys994Arg)
n.3107T>C
c.2674T>C (p.Cys892Arg)
c.2932T>C (p.Cys978Arg)
c.2827T>C (p.Cys943Arg)
c.2773T>C (p.Cys925Arg)
c.2851T>C (p.Cys951Arg)
c.2602T>C (p.Cys868Arg)
c.2833T>C (p.Cys945Arg)
c.1759T>C (p.Cys587Arg)
n.2814T>C
1g.151406076A>TCA341947205POGZc.3007T>A (p.Cys1003Ser)
c.2800T>A (p.Cys934Ser)
c.2959T>A (p.Cys987Ser)
c.2980T>A (p.Cys994Ser)
n.3107T>A
c.2674T>A (p.Cys892Ser)
c.2932T>A (p.Cys978Ser)
c.2827T>A (p.Cys943Ser)
c.2773T>A (p.Cys925Ser)
c.2851T>A (p.Cys951Ser)
c.2602T>A (p.Cys868Ser)
c.2833T>A (p.Cys945Ser)
c.1759T>A (p.Cys587Ser)
n.2814T>A
gnomAD v4
1g.151406077G>ACA420909909POGZc.3006C>T (p.Cys1002=)
c.2799C>T (p.Cys933=)
c.2958C>T (p.Cys986=)
c.2979C>T (p.Cys993=)
n.3106C>T
c.2673C>T (p.Cys891=)
c.2931C>T (p.Cys977=)
c.2826C>T (p.Cys942=)
c.2772C>T (p.Cys924=)
c.2850C>T (p.Cys950=)
c.2601C>T (p.Cys867=)
c.2832C>T (p.Cys944=)
c.1758C>T (p.Cys586=)
n.2813C>T
dbSNP gnomAD v2 gnomAD v4
1g.151406077G>CCA341947218POGZc.3006C>G (p.Cys1002Trp)
c.2799C>G (p.Cys933Trp)
c.2958C>G (p.Cys986Trp)
c.2979C>G (p.Cys993Trp)
n.3106C>G
c.2673C>G (p.Cys891Trp)
c.2931C>G (p.Cys977Trp)
c.2826C>G (p.Cys942Trp)
c.2772C>G (p.Cys924Trp)
c.2850C>G (p.Cys950Trp)
c.2601C>G (p.Cys867Trp)
c.2832C>G (p.Cys944Trp)
c.1758C>G (p.Cys586Trp)
n.2813C>G
1g.151406077G=CA2479570507POGZc.3006C= (p.Cys1002=)
c.2799C= (p.Cys933=)
c.2958C= (p.Cys986=)
c.2979C= (p.Cys993=)
n.3106C=
c.2673C= (p.Cys891=)
c.2931C= (p.Cys977=)
c.2826C= (p.Cys942=)
c.2772C= (p.Cys924=)
c.2850C= (p.Cys950=)
c.2601C= (p.Cys867=)
c.2832C= (p.Cys944=)
c.1758C= (p.Cys586=)
n.2813C=
1g.151406077G>TCA341947214POGZc.3006C>A (p.Cys1002Ter)
c.2799C>A (p.Cys933Ter)
c.2958C>A (p.Cys986Ter)
c.2979C>A (p.Cys993Ter)
n.3106C>A
c.2673C>A (p.Cys891Ter)
c.2931C>A (p.Cys977Ter)
c.2826C>A (p.Cys942Ter)
c.2772C>A (p.Cys924Ter)
c.2850C>A (p.Cys950Ter)
c.2601C>A (p.Cys867Ter)
c.2832C>A (p.Cys944Ter)
c.1758C>A (p.Cys586Ter)
n.2813C>A
1g.151406078C>ACA341947221POGZc.3005G>T (p.Cys1002Phe)
c.2798G>T (p.Cys933Phe)
c.2957G>T (p.Cys986Phe)
c.2978G>T (p.Cys993Phe)
n.3105G>T
c.2672G>T (p.Cys891Phe)
c.2930G>T (p.Cys977Phe)
c.2825G>T (p.Cys942Phe)
c.2771G>T (p.Cys924Phe)
c.2849G>T (p.Cys950Phe)
c.2600G>T (p.Cys867Phe)
c.2831G>T (p.Cys944Phe)
c.1757G>T (p.Cys586Phe)
n.2812G>T
1g.151406078C>GCA341947219POGZc.3005G>C (p.Cys1002Ser)
c.2798G>C (p.Cys933Ser)
c.2957G>C (p.Cys986Ser)
c.2978G>C (p.Cys993Ser)
n.3105G>C
c.2672G>C (p.Cys891Ser)
c.2930G>C (p.Cys977Ser)
c.2825G>C (p.Cys942Ser)
c.2771G>C (p.Cys924Ser)
c.2849G>C (p.Cys950Ser)
c.2600G>C (p.Cys867Ser)
c.2831G>C (p.Cys944Ser)
c.1757G>C (p.Cys586Ser)
n.2812G>C
1g.151406078C>TCA341947220POGZc.3005G>A (p.Cys1002Tyr)
c.2798G>A (p.Cys933Tyr)
c.2957G>A (p.Cys986Tyr)
c.2978G>A (p.Cys993Tyr)
n.3105G>A
c.2672G>A (p.Cys891Tyr)
c.2930G>A (p.Cys977Tyr)
c.2825G>A (p.Cys942Tyr)
c.2771G>A (p.Cys924Tyr)
c.2849G>A (p.Cys950Tyr)
c.2600G>A (p.Cys867Tyr)
c.2831G>A (p.Cys944Tyr)
c.1757G>A (p.Cys586Tyr)
n.2812G>A
1g.151406079A>CCA341947227POGZc.3004T>G (p.Cys1002Gly)
c.2797T>G (p.Cys933Gly)
c.2956T>G (p.Cys986Gly)
c.2977T>G (p.Cys993Gly)
n.3104T>G
c.2671T>G (p.Cys891Gly)
c.2929T>G (p.Cys977Gly)
c.2824T>G (p.Cys942Gly)
c.2770T>G (p.Cys924Gly)
c.2848T>G (p.Cys950Gly)
c.2599T>G (p.Cys867Gly)
c.2830T>G (p.Cys944Gly)
c.1756T>G (p.Cys586Gly)
n.2811T>G
1g.151406079A>GCA341947230POGZc.3004T>C (p.Cys1002Arg)
c.2797T>C (p.Cys933Arg)
c.2956T>C (p.Cys986Arg)
c.2977T>C (p.Cys993Arg)
n.3104T>C
c.2671T>C (p.Cys891Arg)
c.2929T>C (p.Cys977Arg)
c.2824T>C (p.Cys942Arg)
c.2770T>C (p.Cys924Arg)
c.2848T>C (p.Cys950Arg)
c.2599T>C (p.Cys867Arg)
c.2830T>C (p.Cys944Arg)
c.1756T>C (p.Cys586Arg)
n.2811T>C
1g.151406079A>TCA341947232POGZc.3004T>A (p.Cys1002Ser)
c.2797T>A (p.Cys933Ser)
c.2956T>A (p.Cys986Ser)
c.2977T>A (p.Cys993Ser)
n.3104T>A
c.2671T>A (p.Cys891Ser)
c.2929T>A (p.Cys977Ser)
c.2824T>A (p.Cys942Ser)
c.2770T>A (p.Cys924Ser)
c.2848T>A (p.Cys950Ser)
c.2599T>A (p.Cys867Ser)
c.2830T>A (p.Cys944Ser)
c.1756T>A (p.Cys586Ser)
n.2811T>A
1g.151406080T>ACA420909913POGZc.3003A>T (p.Leu1001=)
c.2796A>T (p.Leu932=)
c.2955A>T (p.Leu985=)
c.2976A>T (p.Leu992=)
n.3103A>T
c.2670A>T (p.Leu890=)
c.2928A>T (p.Leu976=)
c.2823A>T (p.Leu941=)
c.2769A>T (p.Leu923=)
c.2847A>T (p.Leu949=)
c.2598A>T (p.Leu866=)
c.2829A>T (p.Leu943=)
c.1755A>T (p.Leu585=)
n.2810A>T
1g.151406080T>CCA1091029POGZc.3003A>G (p.Leu1001=)
c.2796A>G (p.Leu932=)
c.2955A>G (p.Leu985=)
c.2976A>G (p.Leu992=)
n.3103A>G
c.2670A>G (p.Leu890=)
c.2928A>G (p.Leu976=)
c.2823A>G (p.Leu941=)
c.2769A>G (p.Leu923=)
c.2847A>G (p.Leu949=)
c.2598A>G (p.Leu866=)
c.2829A>G (p.Leu943=)
c.1755A>G (p.Leu585=)
n.2810A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406080T>GCA420909914POGZc.3003A>C (p.Leu1001=)
c.2796A>C (p.Leu932=)
c.2955A>C (p.Leu985=)
c.2976A>C (p.Leu992=)
n.3103A>C
c.2670A>C (p.Leu890=)
c.2928A>C (p.Leu976=)
c.2823A>C (p.Leu941=)
c.2769A>C (p.Leu923=)
c.2847A>C (p.Leu949=)
c.2598A>C (p.Leu866=)
c.2829A>C (p.Leu943=)
c.1755A>C (p.Leu585=)
n.2810A>C
1g.151406080T=CA1142033990POGZc.3003A= (p.Leu1001=)
c.2796A= (p.Leu932=)
c.2955A= (p.Leu985=)
c.2976A= (p.Leu992=)
n.3103A=
c.2670A= (p.Leu890=)
c.2928A= (p.Leu976=)
c.2823A= (p.Leu941=)
c.2769A= (p.Leu923=)
c.2847A= (p.Leu949=)
c.2598A= (p.Leu866=)
c.2829A= (p.Leu943=)
c.1755A= (p.Leu585=)
n.2810A=

Number of alleles fetched