Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.151406166G>ACA420910018POGZc.2917C>T (p.Leu973=)
c.2710C>T (p.Leu904=)
c.2869C>T (p.Leu957=)
c.2890C>T (p.Leu964=)
n.3017C>T
c.2584C>T (p.Leu862=)
c.2842C>T (p.Leu948=)
c.2737C>T (p.Leu913=)
c.2683C>T (p.Leu895=)
c.2761C>T (p.Leu921=)
c.2512C>T (p.Leu838=)
c.2743C>T (p.Leu915=)
c.1669C>T (p.Leu557=)
n.2724C>T
1g.151406166G>CCA341948009POGZc.2917C>G (p.Leu973Val)
c.2710C>G (p.Leu904Val)
c.2869C>G (p.Leu957Val)
c.2890C>G (p.Leu964Val)
n.3017C>G
c.2584C>G (p.Leu862Val)
c.2842C>G (p.Leu948Val)
c.2737C>G (p.Leu913Val)
c.2683C>G (p.Leu895Val)
c.2761C>G (p.Leu921Val)
c.2512C>G (p.Leu838Val)
c.2743C>G (p.Leu915Val)
c.1669C>G (p.Leu557Val)
n.2724C>G
 gnomAD v4
1g.151406166G>TCA341948014POGZc.2917C>A (p.Leu973Ile)
c.2710C>A (p.Leu904Ile)
c.2869C>A (p.Leu957Ile)
c.2890C>A (p.Leu964Ile)
n.3017C>A
c.2584C>A (p.Leu862Ile)
c.2842C>A (p.Leu948Ile)
c.2737C>A (p.Leu913Ile)
c.2683C>A (p.Leu895Ile)
c.2761C>A (p.Leu921Ile)
c.2512C>A (p.Leu838Ile)
c.2743C>A (p.Leu915Ile)
c.1669C>A (p.Leu557Ile)
n.2724C>A
1g.151406167C>ACA341948018POGZc.2916G>T (p.Glu972Asp)
c.2709G>T (p.Glu903Asp)
c.2868G>T (p.Glu956Asp)
c.2889G>T (p.Glu963Asp)
n.3016G>T
c.2583G>T (p.Glu861Asp)
c.2841G>T (p.Glu947Asp)
c.2736G>T (p.Glu912Asp)
c.2682G>T (p.Glu894Asp)
c.2760G>T (p.Glu920Asp)
c.2511G>T (p.Glu837Asp)
c.2742G>T (p.Glu914Asp)
c.1668G>T (p.Glu556Asp)
n.2723G>T
1g.151406167C=CA2479570537POGZc.2916G= (p.Glu972=)
c.2709G= (p.Glu903=)
c.2868G= (p.Glu956=)
c.2889G= (p.Glu963=)
n.3016G=
c.2583G= (p.Glu861=)
c.2841G= (p.Glu947=)
c.2736G= (p.Glu912=)
c.2682G= (p.Glu894=)
c.2760G= (p.Glu920=)
c.2511G= (p.Glu837=)
c.2742G= (p.Glu914=)
c.1668G= (p.Glu556=)
n.2723G=
1g.151406167C>GCA341948019POGZc.2916G>C (p.Glu972Asp)
c.2709G>C (p.Glu903Asp)
c.2868G>C (p.Glu956Asp)
c.2889G>C (p.Glu963Asp)
n.3016G>C
c.2583G>C (p.Glu861Asp)
c.2841G>C (p.Glu947Asp)
c.2736G>C (p.Glu912Asp)
c.2682G>C (p.Glu894Asp)
c.2760G>C (p.Glu920Asp)
c.2511G>C (p.Glu837Asp)
c.2742G>C (p.Glu914Asp)
c.1668G>C (p.Glu556Asp)
n.2723G>C
 gnomAD v4
1g.151406167C>TCA1091044POGZc.2916G>A (p.Glu972=)
c.2709G>A (p.Glu903=)
c.2868G>A (p.Glu956=)
c.2889G>A (p.Glu963=)
n.3016G>A
c.2583G>A (p.Glu861=)
c.2841G>A (p.Glu947=)
c.2736G>A (p.Glu912=)
c.2682G>A (p.Glu894=)
c.2760G>A (p.Glu920=)
c.2511G>A (p.Glu837=)
c.2742G>A (p.Glu914=)
c.1668G>A (p.Glu556=)
n.2723G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406167_151406168insACA2574056016POGZc.2915_2916insT (p.Glu972AspfsTer9)
c.2708_2709insT (p.Glu903AspfsTer9)
c.2867_2868insT (p.Glu956AspfsTer9)
c.2888_2889insT (p.Glu963AspfsTer9)
n.3015_3016insT
c.2582_2583insT (p.Glu861AspfsTer9)
c.2840_2841insT (p.Glu947AspfsTer9)
c.2735_2736insT (p.Glu912AspfsTer9)
c.2681_2682insT (p.Glu894AspfsTer9)
c.2759_2760insT (p.Glu920AspfsTer9)
c.2510_2511insT (p.Glu837AspfsTer9)
c.2741_2742insT (p.Glu914AspfsTer9)
c.1667_1668insT (p.Glu556AspfsTer9)
n.2722_2723insT
1g.151406168T>ACA341948028POGZc.2915A>T (p.Glu972Val)
c.2708A>T (p.Glu903Val)
c.2867A>T (p.Glu956Val)
c.2888A>T (p.Glu963Val)
n.3015A>T
c.2582A>T (p.Glu861Val)
c.2840A>T (p.Glu947Val)
c.2735A>T (p.Glu912Val)
c.2681A>T (p.Glu894Val)
c.2759A>T (p.Glu920Val)
c.2510A>T (p.Glu837Val)
c.2741A>T (p.Glu914Val)
c.1667A>T (p.Glu556Val)
n.2722A>T
1g.151406168T>CCA341948032POGZc.2915A>G (p.Glu972Gly)
c.2708A>G (p.Glu903Gly)
c.2867A>G (p.Glu956Gly)
c.2888A>G (p.Glu963Gly)
n.3015A>G
c.2582A>G (p.Glu861Gly)
c.2840A>G (p.Glu947Gly)
c.2735A>G (p.Glu912Gly)
c.2681A>G (p.Glu894Gly)
c.2759A>G (p.Glu920Gly)
c.2510A>G (p.Glu837Gly)
c.2741A>G (p.Glu914Gly)
c.1667A>G (p.Glu556Gly)
n.2722A>G
1g.151406168T>GCA29569261POGZc.2915A>C (p.Glu972Ala)
c.2708A>C (p.Glu903Ala)
c.2867A>C (p.Glu956Ala)
c.2888A>C (p.Glu963Ala)
n.3015A>C
c.2582A>C (p.Glu861Ala)
c.2840A>C (p.Glu947Ala)
c.2735A>C (p.Glu912Ala)
c.2681A>C (p.Glu894Ala)
c.2759A>C (p.Glu920Ala)
c.2510A>C (p.Glu837Ala)
c.2741A>C (p.Glu914Ala)
c.1667A>C (p.Glu556Ala)
n.2722A>C
 dbSNP
1g.151406168T=CA1146712103POGZc.2915A= (p.Glu972=)
c.2708A= (p.Glu903=)
c.2867A= (p.Glu956=)
c.2888A= (p.Glu963=)
n.3015A=
c.2582A= (p.Glu861=)
c.2840A= (p.Glu947=)
c.2735A= (p.Glu912=)
c.2681A= (p.Glu894=)
c.2759A= (p.Glu920=)
c.2510A= (p.Glu837=)
c.2741A= (p.Glu914=)
c.1667A= (p.Glu556=)
n.2722A=
1g.151406169C>ACA341948048POGZc.2914G>T (p.Glu972Ter)
c.2707G>T (p.Glu903Ter)
c.2866G>T (p.Glu956Ter)
c.2887G>T (p.Glu963Ter)
n.3014G>T
c.2581G>T (p.Glu861Ter)
c.2839G>T (p.Glu947Ter)
c.2734G>T (p.Glu912Ter)
c.2680G>T (p.Glu894Ter)
c.2758G>T (p.Glu920Ter)
c.2509G>T (p.Glu837Ter)
c.2740G>T (p.Glu914Ter)
c.1666G>T (p.Glu556Ter)
n.2721G>T
1g.151406169C>GCA341948045POGZc.2914G>C (p.Glu972Gln)
c.2707G>C (p.Glu903Gln)
c.2866G>C (p.Glu956Gln)
c.2887G>C (p.Glu963Gln)
n.3014G>C
c.2581G>C (p.Glu861Gln)
c.2839G>C (p.Glu947Gln)
c.2734G>C (p.Glu912Gln)
c.2680G>C (p.Glu894Gln)
c.2758G>C (p.Glu920Gln)
c.2509G>C (p.Glu837Gln)
c.2740G>C (p.Glu914Gln)
c.1666G>C (p.Glu556Gln)
n.2721G>C
1g.151406169C>TCA341948041POGZc.2914G>A (p.Glu972Lys)
c.2707G>A (p.Glu903Lys)
c.2866G>A (p.Glu956Lys)
c.2887G>A (p.Glu963Lys)
n.3014G>A
c.2581G>A (p.Glu861Lys)
c.2839G>A (p.Glu947Lys)
c.2734G>A (p.Glu912Lys)
c.2680G>A (p.Glu894Lys)
c.2758G>A (p.Glu920Lys)
c.2509G>A (p.Glu837Lys)
c.2740G>A (p.Glu914Lys)
c.1666G>A (p.Glu556Lys)
n.2721G>A
1g.151406170A>CCA420910022POGZc.2913T>G (p.Pro971=)
c.2706T>G (p.Pro902=)
c.2865T>G (p.Pro955=)
c.2886T>G (p.Pro962=)
n.3013T>G
c.2580T>G (p.Pro860=)
c.2838T>G (p.Pro946=)
c.2733T>G (p.Pro911=)
c.2679T>G (p.Pro893=)
c.2757T>G (p.Pro919=)
c.2508T>G (p.Pro836=)
c.2739T>G (p.Pro913=)
c.1665T>G (p.Pro555=)
n.2720T>G
 ClinVar gnomAD v4
1g.151406170A>GCA420910023POGZc.2913T>C (p.Pro971=)
c.2706T>C (p.Pro902=)
c.2865T>C (p.Pro955=)
c.2886T>C (p.Pro962=)
n.3013T>C
c.2580T>C (p.Pro860=)
c.2838T>C (p.Pro946=)
c.2733T>C (p.Pro911=)
c.2679T>C (p.Pro893=)
c.2757T>C (p.Pro919=)
c.2508T>C (p.Pro836=)
c.2739T>C (p.Pro913=)
c.1665T>C (p.Pro555=)
n.2720T>C
1g.151406170A>TCA420910024POGZc.2913T>A (p.Pro971=)
c.2706T>A (p.Pro902=)
c.2865T>A (p.Pro955=)
c.2886T>A (p.Pro962=)
n.3013T>A
c.2580T>A (p.Pro860=)
c.2838T>A (p.Pro946=)
c.2733T>A (p.Pro911=)
c.2679T>A (p.Pro893=)
c.2757T>A (p.Pro919=)
c.2508T>A (p.Pro836=)
c.2739T>A (p.Pro913=)
c.1665T>A (p.Pro555=)
n.2720T>A
1g.151406171G>ACA341948053POGZc.2912C>T (p.Pro971Leu)
c.2705C>T (p.Pro902Leu)
c.2864C>T (p.Pro955Leu)
c.2885C>T (p.Pro962Leu)
n.3012C>T
c.2579C>T (p.Pro860Leu)
c.2837C>T (p.Pro946Leu)
c.2732C>T (p.Pro911Leu)
c.2678C>T (p.Pro893Leu)
c.2756C>T (p.Pro919Leu)
c.2507C>T (p.Pro836Leu)
c.2738C>T (p.Pro913Leu)
c.1664C>T (p.Pro555Leu)
n.2719C>T
 gnomAD v4
1g.151406171G>CCA1091045POGZc.2912C>G (p.Pro971Arg)
c.2705C>G (p.Pro902Arg)
c.2864C>G (p.Pro955Arg)
c.2885C>G (p.Pro962Arg)
n.3012C>G
c.2579C>G (p.Pro860Arg)
c.2837C>G (p.Pro946Arg)
c.2732C>G (p.Pro911Arg)
c.2678C>G (p.Pro893Arg)
c.2756C>G (p.Pro919Arg)
c.2507C>G (p.Pro836Arg)
c.2738C>G (p.Pro913Arg)
c.1664C>G (p.Pro555Arg)
n.2719C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406171G=CA2479570538POGZc.2912C= (p.Pro971=)
c.2705C= (p.Pro902=)
c.2864C= (p.Pro955=)
c.2885C= (p.Pro962=)
n.3012C=
c.2579C= (p.Pro860=)
c.2837C= (p.Pro946=)
c.2732C= (p.Pro911=)
c.2678C= (p.Pro893=)
c.2756C= (p.Pro919=)
c.2507C= (p.Pro836=)
c.2738C= (p.Pro913=)
c.1664C= (p.Pro555=)
n.2719C=
1g.151406171G>TCA341948058POGZc.2912C>A (p.Pro971His)
c.2705C>A (p.Pro902His)
c.2864C>A (p.Pro955His)
c.2885C>A (p.Pro962His)
n.3012C>A
c.2579C>A (p.Pro860His)
c.2837C>A (p.Pro946His)
c.2732C>A (p.Pro911His)
c.2678C>A (p.Pro893His)
c.2756C>A (p.Pro919His)
c.2507C>A (p.Pro836His)
c.2738C>A (p.Pro913His)
c.1664C>A (p.Pro555His)
n.2719C>A
1g.151406172G>ACA341948066POGZc.2911C>T (p.Pro971Ser)
c.2704C>T (p.Pro902Ser)
c.2863C>T (p.Pro955Ser)
c.2884C>T (p.Pro962Ser)
n.3011C>T
c.2578C>T (p.Pro860Ser)
c.2836C>T (p.Pro946Ser)
c.2731C>T (p.Pro911Ser)
c.2677C>T (p.Pro893Ser)
c.2755C>T (p.Pro919Ser)
c.2506C>T (p.Pro836Ser)
c.2737C>T (p.Pro913Ser)
c.1663C>T (p.Pro555Ser)
n.2718C>T
1g.151406172G>CCA341948067POGZc.2911C>G (p.Pro971Ala)
c.2704C>G (p.Pro902Ala)
c.2863C>G (p.Pro955Ala)
c.2884C>G (p.Pro962Ala)
n.3011C>G
c.2578C>G (p.Pro860Ala)
c.2836C>G (p.Pro946Ala)
c.2731C>G (p.Pro911Ala)
c.2677C>G (p.Pro893Ala)
c.2755C>G (p.Pro919Ala)
c.2506C>G (p.Pro836Ala)
c.2737C>G (p.Pro913Ala)
c.1663C>G (p.Pro555Ala)
n.2718C>G
1g.151406172G>TCA341948077POGZc.2911C>A (p.Pro971Thr)
c.2704C>A (p.Pro902Thr)
c.2863C>A (p.Pro955Thr)
c.2884C>A (p.Pro962Thr)
n.3011C>A
c.2578C>A (p.Pro860Thr)
c.2836C>A (p.Pro946Thr)
c.2731C>A (p.Pro911Thr)
c.2677C>A (p.Pro893Thr)
c.2755C>A (p.Pro919Thr)
c.2506C>A (p.Pro836Thr)
c.2737C>A (p.Pro913Thr)
c.1663C>A (p.Pro555Thr)
n.2718C>A
1g.151406173T>ACA341948087POGZc.2910A>T (p.Glu970Asp)
c.2703A>T (p.Glu901Asp)
c.2862A>T (p.Glu954Asp)
c.2883A>T (p.Glu961Asp)
n.3010A>T
c.2577A>T (p.Glu859Asp)
c.2835A>T (p.Glu945Asp)
c.2730A>T (p.Glu910Asp)
c.2676A>T (p.Glu892Asp)
c.2754A>T (p.Glu918Asp)
c.2505A>T (p.Glu835Asp)
c.2736A>T (p.Glu912Asp)
c.1662A>T (p.Glu554Asp)
n.2717A>T
1g.151406173T>CCA420910026POGZc.2910A>G (p.Glu970=)
c.2703A>G (p.Glu901=)
c.2862A>G (p.Glu954=)
c.2883A>G (p.Glu961=)
n.3010A>G
c.2577A>G (p.Glu859=)
c.2835A>G (p.Glu945=)
c.2730A>G (p.Glu910=)
c.2676A>G (p.Glu892=)
c.2754A>G (p.Glu918=)
c.2505A>G (p.Glu835=)
c.2736A>G (p.Glu912=)
c.1662A>G (p.Glu554=)
n.2717A>G
1g.151406173T>GCA1091046POGZc.2910A>C (p.Glu970Asp)
c.2703A>C (p.Glu901Asp)
c.2862A>C (p.Glu954Asp)
c.2883A>C (p.Glu961Asp)
n.3010A>C
c.2577A>C (p.Glu859Asp)
c.2835A>C (p.Glu945Asp)
c.2730A>C (p.Glu910Asp)
c.2676A>C (p.Glu892Asp)
c.2754A>C (p.Glu918Asp)
c.2505A>C (p.Glu835Asp)
c.2736A>C (p.Glu912Asp)
c.1662A>C (p.Glu554Asp)
n.2717A>C
 dbSNP ExAC gnomAD v2
1g.151406173T=CA2479570539POGZc.2910A= (p.Glu970=)
c.2703A= (p.Glu901=)
c.2862A= (p.Glu954=)
c.2883A= (p.Glu961=)
n.3010A=
c.2577A= (p.Glu859=)
c.2835A= (p.Glu945=)
c.2730A= (p.Glu910=)
c.2676A= (p.Glu892=)
c.2754A= (p.Glu918=)
c.2505A= (p.Glu835=)
c.2736A= (p.Glu912=)
c.1662A= (p.Glu554=)
n.2717A=
1g.151406174T>ACA341948095POGZc.2909A>T (p.Glu970Val)
c.2702A>T (p.Glu901Val)
c.2861A>T (p.Glu954Val)
c.2882A>T (p.Glu961Val)
n.3009A>T
c.2576A>T (p.Glu859Val)
c.2834A>T (p.Glu945Val)
c.2729A>T (p.Glu910Val)
c.2675A>T (p.Glu892Val)
c.2753A>T (p.Glu918Val)
c.2504A>T (p.Glu835Val)
c.2735A>T (p.Glu912Val)
c.1661A>T (p.Glu554Val)
n.2716A>T
1g.151406174T>CCA1091047POGZc.2909A>G (p.Glu970Gly)
c.2702A>G (p.Glu901Gly)
c.2861A>G (p.Glu954Gly)
c.2882A>G (p.Glu961Gly)
n.3009A>G
c.2576A>G (p.Glu859Gly)
c.2834A>G (p.Glu945Gly)
c.2729A>G (p.Glu910Gly)
c.2675A>G (p.Glu892Gly)
c.2753A>G (p.Glu918Gly)
c.2504A>G (p.Glu835Gly)
c.2735A>G (p.Glu912Gly)
c.1661A>G (p.Glu554Gly)
n.2716A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406174T>GCA341948107POGZc.2909A>C (p.Glu970Ala)
c.2702A>C (p.Glu901Ala)
c.2861A>C (p.Glu954Ala)
c.2882A>C (p.Glu961Ala)
n.3009A>C
c.2576A>C (p.Glu859Ala)
c.2834A>C (p.Glu945Ala)
c.2729A>C (p.Glu910Ala)
c.2675A>C (p.Glu892Ala)
c.2753A>C (p.Glu918Ala)
c.2504A>C (p.Glu835Ala)
c.2735A>C (p.Glu912Ala)
c.1661A>C (p.Glu554Ala)
n.2716A>C
1g.151406174T=CA2479570540POGZc.2909A= (p.Glu970=)
c.2702A= (p.Glu901=)
c.2861A= (p.Glu954=)
c.2882A= (p.Glu961=)
n.3009A=
c.2576A= (p.Glu859=)
c.2834A= (p.Glu945=)
c.2729A= (p.Glu910=)
c.2675A= (p.Glu892=)
c.2753A= (p.Glu918=)
c.2504A= (p.Glu835=)
c.2735A= (p.Glu912=)
c.1661A= (p.Glu554=)
n.2716A=
1g.151406175C>ACA341948130POGZc.2908G>T (p.Glu970Ter)
c.2701G>T (p.Glu901Ter)
c.2860G>T (p.Glu954Ter)
c.2881G>T (p.Glu961Ter)
n.3008G>T
c.2575G>T (p.Glu859Ter)
c.2833G>T (p.Glu945Ter)
c.2728G>T (p.Glu910Ter)
c.2674G>T (p.Glu892Ter)
c.2752G>T (p.Glu918Ter)
c.2503G>T (p.Glu835Ter)
c.2734G>T (p.Glu912Ter)
c.1660G>T (p.Glu554Ter)
n.2715G>T
1g.151406175C>GCA341948127POGZc.2908G>C (p.Glu970Gln)
c.2701G>C (p.Glu901Gln)
c.2860G>C (p.Glu954Gln)
c.2881G>C (p.Glu961Gln)
n.3008G>C
c.2575G>C (p.Glu859Gln)
c.2833G>C (p.Glu945Gln)
c.2728G>C (p.Glu910Gln)
c.2674G>C (p.Glu892Gln)
c.2752G>C (p.Glu918Gln)
c.2503G>C (p.Glu835Gln)
c.2734G>C (p.Glu912Gln)
c.1660G>C (p.Glu554Gln)
n.2715G>C
1g.151406175C>TCA341948113POGZc.2908G>A (p.Glu970Lys)
c.2701G>A (p.Glu901Lys)
c.2860G>A (p.Glu954Lys)
c.2881G>A (p.Glu961Lys)
n.3008G>A
c.2575G>A (p.Glu859Lys)
c.2833G>A (p.Glu945Lys)
c.2728G>A (p.Glu910Lys)
c.2674G>A (p.Glu892Lys)
c.2752G>A (p.Glu918Lys)
c.2503G>A (p.Glu835Lys)
c.2734G>A (p.Glu912Lys)
c.1660G>A (p.Glu554Lys)
n.2715G>A
1g.151406176T>ACA341948134POGZc.2907A>T (p.Gln969His)
c.2700A>T (p.Gln900His)
c.2859A>T (p.Gln953His)
c.2880A>T (p.Gln960His)
n.3007A>T
c.2574A>T (p.Gln858His)
c.2832A>T (p.Gln944His)
c.2727A>T (p.Gln909His)
c.2673A>T (p.Gln891His)
c.2751A>T (p.Gln917His)
c.2502A>T (p.Gln834His)
c.2733A>T (p.Gln911His)
c.1659A>T (p.Gln553His)
n.2714A>T
1g.151406176T>CCA1091048POGZc.2907A>G (p.Gln969=)
c.2700A>G (p.Gln900=)
c.2859A>G (p.Gln953=)
c.2880A>G (p.Gln960=)
n.3007A>G
c.2574A>G (p.Gln858=)
c.2832A>G (p.Gln944=)
c.2727A>G (p.Gln909=)
c.2673A>G (p.Gln891=)
c.2751A>G (p.Gln917=)
c.2502A>G (p.Gln834=)
c.2733A>G (p.Gln911=)
c.1659A>G (p.Gln553=)
n.2714A>G
 dbSNP ExAC
1g.151406176T>GCA341948141POGZc.2907A>C (p.Gln969His)
c.2700A>C (p.Gln900His)
c.2859A>C (p.Gln953His)
c.2880A>C (p.Gln960His)
n.3007A>C
c.2574A>C (p.Gln858His)
c.2832A>C (p.Gln944His)
c.2727A>C (p.Gln909His)
c.2673A>C (p.Gln891His)
c.2751A>C (p.Gln917His)
c.2502A>C (p.Gln834His)
c.2733A>C (p.Gln911His)
c.1659A>C (p.Gln553His)
n.2714A>C
1g.151406176T=CA2479570541POGZc.2907A= (p.Gln969=)
c.2700A= (p.Gln900=)
c.2859A= (p.Gln953=)
c.2880A= (p.Gln960=)
n.3007A=
c.2574A= (p.Gln858=)
c.2832A= (p.Gln944=)
c.2727A= (p.Gln909=)
c.2673A= (p.Gln891=)
c.2751A= (p.Gln917=)
c.2502A= (p.Gln834=)
c.2733A= (p.Gln911=)
c.1659A= (p.Gln553=)
n.2714A=
1g.151406177T>ACA341948147POGZc.2906A>T (p.Gln969Leu)
c.2699A>T (p.Gln900Leu)
c.2858A>T (p.Gln953Leu)
c.2879A>T (p.Gln960Leu)
n.3006A>T
c.2573A>T (p.Gln858Leu)
c.2831A>T (p.Gln944Leu)
c.2726A>T (p.Gln909Leu)
c.2672A>T (p.Gln891Leu)
c.2750A>T (p.Gln917Leu)
c.2501A>T (p.Gln834Leu)
c.2732A>T (p.Gln911Leu)
c.1658A>T (p.Gln553Leu)
n.2713A>T
1g.151406177T>CCA341948152POGZc.2906A>G (p.Gln969Arg)
c.2699A>G (p.Gln900Arg)
c.2858A>G (p.Gln953Arg)
c.2879A>G (p.Gln960Arg)
n.3006A>G
c.2573A>G (p.Gln858Arg)
c.2831A>G (p.Gln944Arg)
c.2726A>G (p.Gln909Arg)
c.2672A>G (p.Gln891Arg)
c.2750A>G (p.Gln917Arg)
c.2501A>G (p.Gln834Arg)
c.2732A>G (p.Gln911Arg)
c.1658A>G (p.Gln553Arg)
n.2713A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406177T>GCA341948155POGZc.2906A>C (p.Gln969Pro)
c.2699A>C (p.Gln900Pro)
c.2858A>C (p.Gln953Pro)
c.2879A>C (p.Gln960Pro)
n.3006A>C
c.2573A>C (p.Gln858Pro)
c.2831A>C (p.Gln944Pro)
c.2726A>C (p.Gln909Pro)
c.2672A>C (p.Gln891Pro)
c.2750A>C (p.Gln917Pro)
c.2501A>C (p.Gln834Pro)
c.2732A>C (p.Gln911Pro)
c.1658A>C (p.Gln553Pro)
n.2713A>C
1g.151406177T=CA2479570542POGZc.2906A= (p.Gln969=)
c.2699A= (p.Gln900=)
c.2858A= (p.Gln953=)
c.2879A= (p.Gln960=)
n.3006A=
c.2573A= (p.Gln858=)
c.2831A= (p.Gln944=)
c.2726A= (p.Gln909=)
c.2672A= (p.Gln891=)
c.2750A= (p.Gln917=)
c.2501A= (p.Gln834=)
c.2732A= (p.Gln911=)
c.1658A= (p.Gln553=)
n.2713A=
1g.151406178G>ACA341948162POGZc.2905C>T (p.Gln969Ter)
c.2698C>T (p.Gln900Ter)
c.2857C>T (p.Gln953Ter)
c.2878C>T (p.Gln960Ter)
n.3005C>T
c.2572C>T (p.Gln858Ter)
c.2830C>T (p.Gln944Ter)
c.2725C>T (p.Gln909Ter)
c.2671C>T (p.Gln891Ter)
c.2749C>T (p.Gln917Ter)
c.2500C>T (p.Gln834Ter)
c.2731C>T (p.Gln911Ter)
c.1657C>T (p.Gln553Ter)
n.2712C>T
1g.151406178G>CCA341948167POGZc.2905C>G (p.Gln969Glu)
c.2698C>G (p.Gln900Glu)
c.2857C>G (p.Gln953Glu)
c.2878C>G (p.Gln960Glu)
n.3005C>G
c.2572C>G (p.Gln858Glu)
c.2830C>G (p.Gln944Glu)
c.2725C>G (p.Gln909Glu)
c.2671C>G (p.Gln891Glu)
c.2749C>G (p.Gln917Glu)
c.2500C>G (p.Gln834Glu)
c.2731C>G (p.Gln911Glu)
c.1657C>G (p.Gln553Glu)
n.2712C>G
1g.151406178G=CA2479570543POGZc.2905C= (p.Gln969=)
c.2698C= (p.Gln900=)
c.2857C= (p.Gln953=)
c.2878C= (p.Gln960=)
n.3005C=
c.2572C= (p.Gln858=)
c.2830C= (p.Gln944=)
c.2725C= (p.Gln909=)
c.2671C= (p.Gln891=)
c.2749C= (p.Gln917=)
c.2500C= (p.Gln834=)
c.2731C= (p.Gln911=)
c.1657C= (p.Gln553=)
n.2712C=
1g.151406178G>TCA341948174POGZc.2905C>A (p.Gln969Lys)
c.2698C>A (p.Gln900Lys)
c.2857C>A (p.Gln953Lys)
c.2878C>A (p.Gln960Lys)
n.3005C>A
c.2572C>A (p.Gln858Lys)
c.2830C>A (p.Gln944Lys)
c.2725C>A (p.Gln909Lys)
c.2671C>A (p.Gln891Lys)
c.2749C>A (p.Gln917Lys)
c.2500C>A (p.Gln834Lys)
c.2731C>A (p.Gln911Lys)
c.1657C>A (p.Gln553Lys)
n.2712C>A
1g.151406179G>ACA420910034POGZc.2904C>T (p.Thr968=)
c.2697C>T (p.Thr899=)
c.2856C>T (p.Thr952=)
c.2877C>T (p.Thr959=)
n.3004C>T
c.2571C>T (p.Thr857=)
c.2829C>T (p.Thr943=)
c.2724C>T (p.Thr908=)
c.2670C>T (p.Thr890=)
c.2748C>T (p.Thr916=)
c.2499C>T (p.Thr833=)
c.2730C>T (p.Thr910=)
c.1656C>T (p.Thr552=)
n.2711C>T
 dbSNP gnomAD v4
1g.151406179G>CCA420910036POGZc.2904C>G (p.Thr968=)
c.2697C>G (p.Thr899=)
c.2856C>G (p.Thr952=)
c.2877C>G (p.Thr959=)
n.3004C>G
c.2571C>G (p.Thr857=)
c.2829C>G (p.Thr943=)
c.2724C>G (p.Thr908=)
c.2670C>G (p.Thr890=)
c.2748C>G (p.Thr916=)
c.2499C>G (p.Thr833=)
c.2730C>G (p.Thr910=)
c.1656C>G (p.Thr552=)
n.2711C>G
 gnomAD v4
1g.151406179G=CA2479570544POGZc.2904C= (p.Thr968=)
c.2697C= (p.Thr899=)
c.2856C= (p.Thr952=)
c.2877C= (p.Thr959=)
n.3004C=
c.2571C= (p.Thr857=)
c.2829C= (p.Thr943=)
c.2724C= (p.Thr908=)
c.2670C= (p.Thr890=)
c.2748C= (p.Thr916=)
c.2499C= (p.Thr833=)
c.2730C= (p.Thr910=)
c.1656C= (p.Thr552=)
n.2711C=
1g.151406179G>TCA420910038POGZc.2904C>A (p.Thr968=)
c.2697C>A (p.Thr899=)
c.2856C>A (p.Thr952=)
c.2877C>A (p.Thr959=)
n.3004C>A
c.2571C>A (p.Thr857=)
c.2829C>A (p.Thr943=)
c.2724C>A (p.Thr908=)
c.2670C>A (p.Thr890=)
c.2748C>A (p.Thr916=)
c.2499C>A (p.Thr833=)
c.2730C>A (p.Thr910=)
c.1656C>A (p.Thr552=)
n.2711C>A
1g.151406179_151406184dupCA526660632POGZc.2899_2904dup (p.Thr968_Gln969insValThr)
c.2692_2697dup (p.Thr899_Gln900insValThr)
c.2851_2856dup (p.Thr952_Gln953insValThr)
c.2872_2877dup (p.Thr959_Gln960insValThr)
n.2999_3004dup
c.2566_2571dup (p.Thr857_Gln858insValThr)
c.2824_2829dup (p.Thr943_Gln944insValThr)
c.2719_2724dup (p.Thr908_Gln909insValThr)
c.2665_2670dup (p.Thr890_Gln891insValThr)
c.2743_2748dup (p.Thr916_Gln917insValThr)
c.2494_2499dup (p.Thr833_Gln834insValThr)
c.2725_2730dup (p.Thr910_Gln911insValThr)
c.1651_1656dup (p.Thr552_Gln553insValThr)
n.2706_2711dup
 dbSNP gnomAD v2 gnomAD v4
1g.151406180G>ACA341948179POGZc.2903C>T (p.Thr968Ile)
c.2696C>T (p.Thr899Ile)
c.2855C>T (p.Thr952Ile)
c.2876C>T (p.Thr959Ile)
n.3003C>T
c.2570C>T (p.Thr857Ile)
c.2828C>T (p.Thr943Ile)
c.2723C>T (p.Thr908Ile)
c.2669C>T (p.Thr890Ile)
c.2747C>T (p.Thr916Ile)
c.2498C>T (p.Thr833Ile)
c.2729C>T (p.Thr910Ile)
c.1655C>T (p.Thr552Ile)
n.2710C>T
 dbSNP gnomAD v4
1g.151406180G>CCA341948182POGZc.2903C>G (p.Thr968Ser)
c.2696C>G (p.Thr899Ser)
c.2855C>G (p.Thr952Ser)
c.2876C>G (p.Thr959Ser)
n.3003C>G
c.2570C>G (p.Thr857Ser)
c.2828C>G (p.Thr943Ser)
c.2723C>G (p.Thr908Ser)
c.2669C>G (p.Thr890Ser)
c.2747C>G (p.Thr916Ser)
c.2498C>G (p.Thr833Ser)
c.2729C>G (p.Thr910Ser)
c.1655C>G (p.Thr552Ser)
n.2710C>G
1g.151406180G>TCA341948184POGZc.2903C>A (p.Thr968Asn)
c.2696C>A (p.Thr899Asn)
c.2855C>A (p.Thr952Asn)
c.2876C>A (p.Thr959Asn)
n.3003C>A
c.2570C>A (p.Thr857Asn)
c.2828C>A (p.Thr943Asn)
c.2723C>A (p.Thr908Asn)
c.2669C>A (p.Thr890Asn)
c.2747C>A (p.Thr916Asn)
c.2498C>A (p.Thr833Asn)
c.2729C>A (p.Thr910Asn)
c.1655C>A (p.Thr552Asn)
n.2710C>A
1g.151406181T>ACA341948200POGZc.2902A>T (p.Thr968Ser)
c.2695A>T (p.Thr899Ser)
c.2854A>T (p.Thr952Ser)
c.2875A>T (p.Thr959Ser)
n.3002A>T
c.2569A>T (p.Thr857Ser)
c.2827A>T (p.Thr943Ser)
c.2722A>T (p.Thr908Ser)
c.2668A>T (p.Thr890Ser)
c.2746A>T (p.Thr916Ser)
c.2497A>T (p.Thr833Ser)
c.2728A>T (p.Thr910Ser)
c.1654A>T (p.Thr552Ser)
n.2709A>T
1g.151406181T>CCA1091049POGZc.2902A>G (p.Thr968Ala)
c.2695A>G (p.Thr899Ala)
c.2854A>G (p.Thr952Ala)
c.2875A>G (p.Thr959Ala)
n.3002A>G
c.2569A>G (p.Thr857Ala)
c.2827A>G (p.Thr943Ala)
c.2722A>G (p.Thr908Ala)
c.2668A>G (p.Thr890Ala)
c.2746A>G (p.Thr916Ala)
c.2497A>G (p.Thr833Ala)
c.2728A>G (p.Thr910Ala)
c.1654A>G (p.Thr552Ala)
n.2709A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406181T>GCA341948193POGZc.2902A>C (p.Thr968Pro)
c.2695A>C (p.Thr899Pro)
c.2854A>C (p.Thr952Pro)
c.2875A>C (p.Thr959Pro)
n.3002A>C
c.2569A>C (p.Thr857Pro)
c.2827A>C (p.Thr943Pro)
c.2722A>C (p.Thr908Pro)
c.2668A>C (p.Thr890Pro)
c.2746A>C (p.Thr916Pro)
c.2497A>C (p.Thr833Pro)
c.2728A>C (p.Thr910Pro)
c.1654A>C (p.Thr552Pro)
n.2709A>C
1g.151406181T=CA2479570545POGZc.2902A= (p.Thr968=)
c.2695A= (p.Thr899=)
c.2854A= (p.Thr952=)
c.2875A= (p.Thr959=)
n.3002A=
c.2569A= (p.Thr857=)
c.2827A= (p.Thr943=)
c.2722A= (p.Thr908=)
c.2668A= (p.Thr890=)
c.2746A= (p.Thr916=)
c.2497A= (p.Thr833=)
c.2728A= (p.Thr910=)
c.1654A= (p.Thr552=)
n.2709A=
1g.151406182G>ACA1091050POGZc.2901C>T (p.Val967=)
c.2694C>T (p.Val898=)
c.2853C>T (p.Val951=)
c.2874C>T (p.Val958=)
n.3001C>T
c.2568C>T (p.Val856=)
c.2826C>T (p.Val942=)
c.2721C>T (p.Val907=)
c.2667C>T (p.Val889=)
c.2745C>T (p.Val915=)
c.2496C>T (p.Val832=)
c.2727C>T (p.Val909=)
c.1653C>T (p.Val551=)
n.2708C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406182G>CCA420910044POGZc.2901C>G (p.Val967=)
c.2694C>G (p.Val898=)
c.2853C>G (p.Val951=)
c.2874C>G (p.Val958=)
n.3001C>G
c.2568C>G (p.Val856=)
c.2826C>G (p.Val942=)
c.2721C>G (p.Val907=)
c.2667C>G (p.Val889=)
c.2745C>G (p.Val915=)
c.2496C>G (p.Val832=)
c.2727C>G (p.Val909=)
c.1653C>G (p.Val551=)
n.2708C>G
1g.151406182G=CA2479570546POGZc.2901C= (p.Val967=)
c.2694C= (p.Val898=)
c.2853C= (p.Val951=)
c.2874C= (p.Val958=)
n.3001C=
c.2568C= (p.Val856=)
c.2826C= (p.Val942=)
c.2721C= (p.Val907=)
c.2667C= (p.Val889=)
c.2745C= (p.Val915=)
c.2496C= (p.Val832=)
c.2727C= (p.Val909=)
c.1653C= (p.Val551=)
n.2708C=
1g.151406182G>TCA420910043POGZc.2901C>A (p.Val967=)
c.2694C>A (p.Val898=)
c.2853C>A (p.Val951=)
c.2874C>A (p.Val958=)
n.3001C>A
c.2568C>A (p.Val856=)
c.2826C>A (p.Val942=)
c.2721C>A (p.Val907=)
c.2667C>A (p.Val889=)
c.2745C>A (p.Val915=)
c.2496C>A (p.Val832=)
c.2727C>A (p.Val909=)
c.1653C>A (p.Val551=)
n.2708C>A
1g.151406183A>CCA341948209POGZc.2900T>G (p.Val967Gly)
c.2693T>G (p.Val898Gly)
c.2852T>G (p.Val951Gly)
c.2873T>G (p.Val958Gly)
n.3000T>G
c.2567T>G (p.Val856Gly)
c.2825T>G (p.Val942Gly)
c.2720T>G (p.Val907Gly)
c.2666T>G (p.Val889Gly)
c.2744T>G (p.Val915Gly)
c.2495T>G (p.Val832Gly)
c.2726T>G (p.Val909Gly)
c.1652T>G (p.Val551Gly)
n.2707T>G
1g.151406183A>GCA341948212POGZc.2900T>C (p.Val967Ala)
c.2693T>C (p.Val898Ala)
c.2852T>C (p.Val951Ala)
c.2873T>C (p.Val958Ala)
n.3000T>C
c.2567T>C (p.Val856Ala)
c.2825T>C (p.Val942Ala)
c.2720T>C (p.Val907Ala)
c.2666T>C (p.Val889Ala)
c.2744T>C (p.Val915Ala)
c.2495T>C (p.Val832Ala)
c.2726T>C (p.Val909Ala)
c.1652T>C (p.Val551Ala)
n.2707T>C
1g.151406183A>TCA341948216POGZc.2900T>A (p.Val967Asp)
c.2693T>A (p.Val898Asp)
c.2852T>A (p.Val951Asp)
c.2873T>A (p.Val958Asp)
n.3000T>A
c.2567T>A (p.Val856Asp)
c.2825T>A (p.Val942Asp)
c.2720T>A (p.Val907Asp)
c.2666T>A (p.Val889Asp)
c.2744T>A (p.Val915Asp)
c.2495T>A (p.Val832Asp)
c.2726T>A (p.Val909Asp)
c.1652T>A (p.Val551Asp)
n.2707T>A
1g.151406184C>ACA341948225POGZc.2899G>T (p.Val967Phe)
c.2692G>T (p.Val898Phe)
c.2851G>T (p.Val951Phe)
c.2872G>T (p.Val958Phe)
n.2999G>T
c.2566G>T (p.Val856Phe)
c.2824G>T (p.Val942Phe)
c.2719G>T (p.Val907Phe)
c.2665G>T (p.Val889Phe)
c.2743G>T (p.Val915Phe)
c.2494G>T (p.Val832Phe)
c.2725G>T (p.Val909Phe)
c.1651G>T (p.Val551Phe)
n.2706G>T
1g.151406184C>GCA341948227POGZc.2899G>C (p.Val967Leu)
c.2692G>C (p.Val898Leu)
c.2851G>C (p.Val951Leu)
c.2872G>C (p.Val958Leu)
n.2999G>C
c.2566G>C (p.Val856Leu)
c.2824G>C (p.Val942Leu)
c.2719G>C (p.Val907Leu)
c.2665G>C (p.Val889Leu)
c.2743G>C (p.Val915Leu)
c.2494G>C (p.Val832Leu)
c.2725G>C (p.Val909Leu)
c.1651G>C (p.Val551Leu)
n.2706G>C
1g.151406184C>TCA341948230POGZc.2899G>A (p.Val967Ile)
c.2692G>A (p.Val898Ile)
c.2851G>A (p.Val951Ile)
c.2872G>A (p.Val958Ile)
n.2999G>A
c.2566G>A (p.Val856Ile)
c.2824G>A (p.Val942Ile)
c.2719G>A (p.Val907Ile)
c.2665G>A (p.Val889Ile)
c.2743G>A (p.Val915Ile)
c.2494G>A (p.Val832Ile)
c.2725G>A (p.Val909Ile)
c.1651G>A (p.Val551Ile)
n.2706G>A
1g.151406185T>ACA420910047POGZc.2898A>T (p.Pro966=)
c.2691A>T (p.Pro897=)
c.2850A>T (p.Pro950=)
c.2871A>T (p.Pro957=)
n.2998A>T
c.2565A>T (p.Pro855=)
c.2823A>T (p.Pro941=)
c.2718A>T (p.Pro906=)
c.2664A>T (p.Pro888=)
c.2742A>T (p.Pro914=)
c.2493A>T (p.Pro831=)
c.2724A>T (p.Pro908=)
c.1650A>T (p.Pro550=)
n.2705A>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406185T>CCA420910048POGZc.2898A>G (p.Pro966=)
c.2691A>G (p.Pro897=)
c.2850A>G (p.Pro950=)
c.2871A>G (p.Pro957=)
n.2998A>G
c.2565A>G (p.Pro855=)
c.2823A>G (p.Pro941=)
c.2718A>G (p.Pro906=)
c.2664A>G (p.Pro888=)
c.2742A>G (p.Pro914=)
c.2493A>G (p.Pro831=)
c.2724A>G (p.Pro908=)
c.1650A>G (p.Pro550=)
n.2705A>G
 gnomAD v4
1g.151406185T>GCA420910049POGZc.2898A>C (p.Pro966=)
c.2691A>C (p.Pro897=)
c.2850A>C (p.Pro950=)
c.2871A>C (p.Pro957=)
n.2998A>C
c.2565A>C (p.Pro855=)
c.2823A>C (p.Pro941=)
c.2718A>C (p.Pro906=)
c.2664A>C (p.Pro888=)
c.2742A>C (p.Pro914=)
c.2493A>C (p.Pro831=)
c.2724A>C (p.Pro908=)
c.1650A>C (p.Pro550=)
n.2705A>C
1g.151406185T=CA2479570547POGZc.2898A= (p.Pro966=)
c.2691A= (p.Pro897=)
c.2850A= (p.Pro950=)
c.2871A= (p.Pro957=)
n.2998A=
c.2565A= (p.Pro855=)
c.2823A= (p.Pro941=)
c.2718A= (p.Pro906=)
c.2664A= (p.Pro888=)
c.2742A= (p.Pro914=)
c.2493A= (p.Pro831=)
c.2724A= (p.Pro908=)
c.1650A= (p.Pro550=)
n.2705A=
1g.151406186G>ACA341948234POGZc.2897C>T (p.Pro966Leu)
c.2690C>T (p.Pro897Leu)
c.2849C>T (p.Pro950Leu)
c.2870C>T (p.Pro957Leu)
n.2997C>T
c.2564C>T (p.Pro855Leu)
c.2822C>T (p.Pro941Leu)
c.2717C>T (p.Pro906Leu)
c.2663C>T (p.Pro888Leu)
c.2741C>T (p.Pro914Leu)
c.2492C>T (p.Pro831Leu)
c.2723C>T (p.Pro908Leu)
c.1649C>T (p.Pro550Leu)
n.2704C>T
1g.151406186G>CCA341948238POGZc.2897C>G (p.Pro966Arg)
c.2690C>G (p.Pro897Arg)
c.2849C>G (p.Pro950Arg)
c.2870C>G (p.Pro957Arg)
n.2997C>G
c.2564C>G (p.Pro855Arg)
c.2822C>G (p.Pro941Arg)
c.2717C>G (p.Pro906Arg)
c.2663C>G (p.Pro888Arg)
c.2741C>G (p.Pro914Arg)
c.2492C>G (p.Pro831Arg)
c.2723C>G (p.Pro908Arg)
c.1649C>G (p.Pro550Arg)
n.2704C>G
1g.151406186G>TCA341948240POGZc.2897C>A (p.Pro966Gln)
c.2690C>A (p.Pro897Gln)
c.2849C>A (p.Pro950Gln)
c.2870C>A (p.Pro957Gln)
n.2997C>A
c.2564C>A (p.Pro855Gln)
c.2822C>A (p.Pro941Gln)
c.2717C>A (p.Pro906Gln)
c.2663C>A (p.Pro888Gln)
c.2741C>A (p.Pro914Gln)
c.2492C>A (p.Pro831Gln)
c.2723C>A (p.Pro908Gln)
c.1649C>A (p.Pro550Gln)
n.2704C>A
1g.151406188dupCA1139656323POGZc.2897dup (p.Val967SerfsTer6)
c.2690dup (p.Val898SerfsTer6)
c.2849dup (p.Val951SerfsTer6)
c.2870dup (p.Val958SerfsTer6)
n.2997dup
c.2564dup (p.Val856SerfsTer6)
c.2822dup (p.Val942SerfsTer6)
c.2717dup (p.Val907SerfsTer6)
c.2663dup (p.Val889SerfsTer6)
c.2741dup (p.Val915SerfsTer6)
c.2492dup (p.Val832SerfsTer6)
c.2723dup (p.Val909SerfsTer6)
c.1649dup (p.Val551SerfsTer6)
n.2704dup
 ClinVar dbSNP
1g.151406187G>ACA341948254POGZc.2896C>T (p.Pro966Ser)
c.2689C>T (p.Pro897Ser)
c.2848C>T (p.Pro950Ser)
c.2869C>T (p.Pro957Ser)
n.2996C>T
c.2563C>T (p.Pro855Ser)
c.2821C>T (p.Pro941Ser)
c.2716C>T (p.Pro906Ser)
c.2662C>T (p.Pro888Ser)
c.2740C>T (p.Pro914Ser)
c.2491C>T (p.Pro831Ser)
c.2722C>T (p.Pro908Ser)
c.1648C>T (p.Pro550Ser)
n.2703C>T
 gnomAD v4
1g.151406187G>CCA341948262POGZc.2896C>G (p.Pro966Ala)
c.2689C>G (p.Pro897Ala)
c.2848C>G (p.Pro950Ala)
c.2869C>G (p.Pro957Ala)
n.2996C>G
c.2563C>G (p.Pro855Ala)
c.2821C>G (p.Pro941Ala)
c.2716C>G (p.Pro906Ala)
c.2662C>G (p.Pro888Ala)
c.2740C>G (p.Pro914Ala)
c.2491C>G (p.Pro831Ala)
c.2722C>G (p.Pro908Ala)
c.1648C>G (p.Pro550Ala)
n.2703C>G
1g.151406187G=CA2479570548POGZc.2896C= (p.Pro966=)
c.2689C= (p.Pro897=)
c.2848C= (p.Pro950=)
c.2869C= (p.Pro957=)
n.2996C=
c.2563C= (p.Pro855=)
c.2821C= (p.Pro941=)
c.2716C= (p.Pro906=)
c.2662C= (p.Pro888=)
c.2740C= (p.Pro914=)
c.2491C= (p.Pro831=)
c.2722C= (p.Pro908=)
c.1648C= (p.Pro550=)
n.2703C=
1g.151406187G>TCA1091051POGZc.2896C>A (p.Pro966Thr)
c.2689C>A (p.Pro897Thr)
c.2848C>A (p.Pro950Thr)
c.2869C>A (p.Pro957Thr)
n.2996C>A
c.2563C>A (p.Pro855Thr)
c.2821C>A (p.Pro941Thr)
c.2716C>A (p.Pro906Thr)
c.2662C>A (p.Pro888Thr)
c.2740C>A (p.Pro914Thr)
c.2491C>A (p.Pro831Thr)
c.2722C>A (p.Pro908Thr)
c.1648C>A (p.Pro550Thr)
n.2703C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406188G>ACA420910053POGZc.2895C>T (p.Ser965=)
c.2688C>T (p.Ser896=)
c.2847C>T (p.Ser949=)
c.2868C>T (p.Ser956=)
n.2995C>T
c.2562C>T (p.Ser854=)
c.2820C>T (p.Ser940=)
c.2715C>T (p.Ser905=)
c.2661C>T (p.Ser887=)
c.2739C>T (p.Ser913=)
c.2490C>T (p.Ser830=)
c.2721C>T (p.Ser907=)
c.1647C>T (p.Ser549=)
n.2702C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406188G>CCA341948269POGZc.2895C>G (p.Ser965Arg)
c.2688C>G (p.Ser896Arg)
c.2847C>G (p.Ser949Arg)
c.2868C>G (p.Ser956Arg)
n.2995C>G
c.2562C>G (p.Ser854Arg)
c.2820C>G (p.Ser940Arg)
c.2715C>G (p.Ser905Arg)
c.2661C>G (p.Ser887Arg)
c.2739C>G (p.Ser913Arg)
c.2490C>G (p.Ser830Arg)
c.2721C>G (p.Ser907Arg)
c.1647C>G (p.Ser549Arg)
n.2702C>G
 dbSNP gnomAD v3 gnomAD v4
1g.151406188G=CA2479570549POGZc.2895C= (p.Ser965=)
c.2688C= (p.Ser896=)
c.2847C= (p.Ser949=)
c.2868C= (p.Ser956=)
n.2995C=
c.2562C= (p.Ser854=)
c.2820C= (p.Ser940=)
c.2715C= (p.Ser905=)
c.2661C= (p.Ser887=)
c.2739C= (p.Ser913=)
c.2490C= (p.Ser830=)
c.2721C= (p.Ser907=)
c.1647C= (p.Ser549=)
n.2702C=
1g.151406188G>TCA341948275POGZc.2895C>A (p.Ser965Arg)
c.2688C>A (p.Ser896Arg)
c.2847C>A (p.Ser949Arg)
c.2868C>A (p.Ser956Arg)
n.2995C>A
c.2562C>A (p.Ser854Arg)
c.2820C>A (p.Ser940Arg)
c.2715C>A (p.Ser905Arg)
c.2661C>A (p.Ser887Arg)
c.2739C>A (p.Ser913Arg)
c.2490C>A (p.Ser830Arg)
c.2721C>A (p.Ser907Arg)
c.1647C>A (p.Ser549Arg)
n.2702C>A
1g.151406189C>ACA341948279POGZc.2894G>T (p.Ser965Ile)
c.2687G>T (p.Ser896Ile)
c.2846G>T (p.Ser949Ile)
c.2867G>T (p.Ser956Ile)
n.2994G>T
c.2561G>T (p.Ser854Ile)
c.2819G>T (p.Ser940Ile)
c.2714G>T (p.Ser905Ile)
c.2660G>T (p.Ser887Ile)
c.2738G>T (p.Ser913Ile)
c.2489G>T (p.Ser830Ile)
c.2720G>T (p.Ser907Ile)
c.1646G>T (p.Ser549Ile)
n.2701G>T
1g.151406189C>GCA341948283POGZc.2894G>C (p.Ser965Thr)
c.2687G>C (p.Ser896Thr)
c.2846G>C (p.Ser949Thr)
c.2867G>C (p.Ser956Thr)
n.2994G>C
c.2561G>C (p.Ser854Thr)
c.2819G>C (p.Ser940Thr)
c.2714G>C (p.Ser905Thr)
c.2660G>C (p.Ser887Thr)
c.2738G>C (p.Ser913Thr)
c.2489G>C (p.Ser830Thr)
c.2720G>C (p.Ser907Thr)
c.1646G>C (p.Ser549Thr)
n.2701G>C
1g.151406189C>TCA341948286POGZc.2894G>A (p.Ser965Asn)
c.2687G>A (p.Ser896Asn)
c.2846G>A (p.Ser949Asn)
c.2867G>A (p.Ser956Asn)
n.2994G>A
c.2561G>A (p.Ser854Asn)
c.2819G>A (p.Ser940Asn)
c.2714G>A (p.Ser905Asn)
c.2660G>A (p.Ser887Asn)
c.2738G>A (p.Ser913Asn)
c.2489G>A (p.Ser830Asn)
c.2720G>A (p.Ser907Asn)
c.1646G>A (p.Ser549Asn)
n.2701G>A
1g.151406190T>ACA341948294POGZc.2893A>T (p.Ser965Cys)
c.2686A>T (p.Ser896Cys)
c.2845A>T (p.Ser949Cys)
c.2866A>T (p.Ser956Cys)
n.2993A>T
c.2560A>T (p.Ser854Cys)
c.2818A>T (p.Ser940Cys)
c.2713A>T (p.Ser905Cys)
c.2659A>T (p.Ser887Cys)
c.2737A>T (p.Ser913Cys)
c.2488A>T (p.Ser830Cys)
c.2719A>T (p.Ser907Cys)
c.1645A>T (p.Ser549Cys)
n.2700A>T
1g.151406190T>CCA341948297POGZc.2893A>G (p.Ser965Gly)
c.2686A>G (p.Ser896Gly)
c.2845A>G (p.Ser949Gly)
c.2866A>G (p.Ser956Gly)
n.2993A>G
c.2560A>G (p.Ser854Gly)
c.2818A>G (p.Ser940Gly)
c.2713A>G (p.Ser905Gly)
c.2659A>G (p.Ser887Gly)
c.2737A>G (p.Ser913Gly)
c.2488A>G (p.Ser830Gly)
c.2719A>G (p.Ser907Gly)
c.1645A>G (p.Ser549Gly)
n.2700A>G
1g.151406190T>GCA341948301POGZc.2893A>C (p.Ser965Arg)
c.2686A>C (p.Ser896Arg)
c.2845A>C (p.Ser949Arg)
c.2866A>C (p.Ser956Arg)
n.2993A>C
c.2560A>C (p.Ser854Arg)
c.2818A>C (p.Ser940Arg)
c.2713A>C (p.Ser905Arg)
c.2659A>C (p.Ser887Arg)
c.2737A>C (p.Ser913Arg)
c.2488A>C (p.Ser830Arg)
c.2719A>C (p.Ser907Arg)
c.1645A>C (p.Ser549Arg)
n.2700A>C
1g.151406191C>ACA420910058POGZc.2892G>T (p.Gly964=)
c.2685G>T (p.Gly895=)
c.2844G>T (p.Gly948=)
c.2865G>T (p.Gly955=)
n.2992G>T
c.2559G>T (p.Gly853=)
c.2817G>T (p.Gly939=)
c.2712G>T (p.Gly904=)
c.2658G>T (p.Gly886=)
c.2736G>T (p.Gly912=)
c.2487G>T (p.Gly829=)
c.2718G>T (p.Gly906=)
c.1644G>T (p.Gly548=)
n.2699G>T
1g.151406191C=CA2479570550POGZc.2892G= (p.Gly964=)
c.2685G= (p.Gly895=)
c.2844G= (p.Gly948=)
c.2865G= (p.Gly955=)
n.2992G=
c.2559G= (p.Gly853=)
c.2817G= (p.Gly939=)
c.2712G= (p.Gly904=)
c.2658G= (p.Gly886=)
c.2736G= (p.Gly912=)
c.2487G= (p.Gly829=)
c.2718G= (p.Gly906=)
c.1644G= (p.Gly548=)
n.2699G=
1g.151406191C>GCA420910057POGZc.2892G>C (p.Gly964=)
c.2685G>C (p.Gly895=)
c.2844G>C (p.Gly948=)
c.2865G>C (p.Gly955=)
n.2992G>C
c.2559G>C (p.Gly853=)
c.2817G>C (p.Gly939=)
c.2712G>C (p.Gly904=)
c.2658G>C (p.Gly886=)
c.2736G>C (p.Gly912=)
c.2487G>C (p.Gly829=)
c.2718G>C (p.Gly906=)
c.1644G>C (p.Gly548=)
n.2699G>C
 dbSNP
1g.151406191C>TCA420910056POGZc.2892G>A (p.Gly964=)
c.2685G>A (p.Gly895=)
c.2844G>A (p.Gly948=)
c.2865G>A (p.Gly955=)
n.2992G>A
c.2559G>A (p.Gly853=)
c.2817G>A (p.Gly939=)
c.2712G>A (p.Gly904=)
c.2658G>A (p.Gly886=)
c.2736G>A (p.Gly912=)
c.2487G>A (p.Gly829=)
c.2718G>A (p.Gly906=)
c.1644G>A (p.Gly548=)
n.2699G>A
1g.151406192C>ACA341948314POGZc.2891G>T (p.Gly964Val)
c.2684G>T (p.Gly895Val)
c.2843G>T (p.Gly948Val)
c.2864G>T (p.Gly955Val)
n.2991G>T
c.2558G>T (p.Gly853Val)
c.2816G>T (p.Gly939Val)
c.2711G>T (p.Gly904Val)
c.2657G>T (p.Gly886Val)
c.2735G>T (p.Gly912Val)
c.2486G>T (p.Gly829Val)
c.2717G>T (p.Gly906Val)
c.1643G>T (p.Gly548Val)
n.2698G>T
1g.151406192C>GCA341948308POGZc.2891G>C (p.Gly964Ala)
c.2684G>C (p.Gly895Ala)
c.2843G>C (p.Gly948Ala)
c.2864G>C (p.Gly955Ala)
n.2991G>C
c.2558G>C (p.Gly853Ala)
c.2816G>C (p.Gly939Ala)
c.2711G>C (p.Gly904Ala)
c.2657G>C (p.Gly886Ala)
c.2735G>C (p.Gly912Ala)
c.2486G>C (p.Gly829Ala)
c.2717G>C (p.Gly906Ala)
c.1643G>C (p.Gly548Ala)
n.2698G>C
1g.151406192C>TCA341948311POGZc.2891G>A (p.Gly964Glu)
c.2684G>A (p.Gly895Glu)
c.2843G>A (p.Gly948Glu)
c.2864G>A (p.Gly955Glu)
n.2991G>A
c.2558G>A (p.Gly853Glu)
c.2816G>A (p.Gly939Glu)
c.2711G>A (p.Gly904Glu)
c.2657G>A (p.Gly886Glu)
c.2735G>A (p.Gly912Glu)
c.2486G>A (p.Gly829Glu)
c.2717G>A (p.Gly906Glu)
c.1643G>A (p.Gly548Glu)
n.2698G>A
1g.151406193C>ACA341948319POGZc.2890G>T (p.Gly964Trp)
c.2683G>T (p.Gly895Trp)
c.2842G>T (p.Gly948Trp)
c.2863G>T (p.Gly955Trp)
n.2990G>T
c.2557G>T (p.Gly853Trp)
c.2815G>T (p.Gly939Trp)
c.2710G>T (p.Gly904Trp)
c.2656G>T (p.Gly886Trp)
c.2734G>T (p.Gly912Trp)
c.2485G>T (p.Gly829Trp)
c.2716G>T (p.Gly906Trp)
c.1642G>T (p.Gly548Trp)
n.2697G>T
1g.151406193C>GCA341948321POGZc.2890G>C (p.Gly964Arg)
c.2683G>C (p.Gly895Arg)
c.2842G>C (p.Gly948Arg)
c.2863G>C (p.Gly955Arg)
n.2990G>C
c.2557G>C (p.Gly853Arg)
c.2815G>C (p.Gly939Arg)
c.2710G>C (p.Gly904Arg)
c.2656G>C (p.Gly886Arg)
c.2734G>C (p.Gly912Arg)
c.2485G>C (p.Gly829Arg)
c.2716G>C (p.Gly906Arg)
c.1642G>C (p.Gly548Arg)
n.2697G>C
1g.151406193C>TCA341948324POGZc.2890G>A (p.Gly964Arg)
c.2683G>A (p.Gly895Arg)
c.2842G>A (p.Gly948Arg)
c.2863G>A (p.Gly955Arg)
n.2990G>A
c.2557G>A (p.Gly853Arg)
c.2815G>A (p.Gly939Arg)
c.2710G>A (p.Gly904Arg)
c.2656G>A (p.Gly886Arg)
c.2734G>A (p.Gly912Arg)
c.2485G>A (p.Gly829Arg)
c.2716G>A (p.Gly906Arg)
c.1642G>A (p.Gly548Arg)
n.2697G>A
1g.151406194T>ACA341948329POGZc.2889A>T (p.Glu963Asp)
c.2682A>T (p.Glu894Asp)
c.2841A>T (p.Glu947Asp)
c.2862A>T (p.Glu954Asp)
n.2989A>T
c.2556A>T (p.Glu852Asp)
c.2814A>T (p.Glu938Asp)
c.2709A>T (p.Glu903Asp)
c.2655A>T (p.Glu885Asp)
c.2733A>T (p.Glu911Asp)
c.2484A>T (p.Glu828Asp)
c.2715A>T (p.Glu905Asp)
c.1641A>T (p.Glu547Asp)
n.2696A>T
1g.151406194T>CCA420910061POGZc.2889A>G (p.Glu963=)
c.2682A>G (p.Glu894=)
c.2841A>G (p.Glu947=)
c.2862A>G (p.Glu954=)
n.2989A>G
c.2556A>G (p.Glu852=)
c.2814A>G (p.Glu938=)
c.2709A>G (p.Glu903=)
c.2655A>G (p.Glu885=)
c.2733A>G (p.Glu911=)
c.2484A>G (p.Glu828=)
c.2715A>G (p.Glu905=)
c.1641A>G (p.Glu547=)
n.2696A>G
 gnomAD v4
1g.151406194T>GCA341948334POGZc.2889A>C (p.Glu963Asp)
c.2682A>C (p.Glu894Asp)
c.2841A>C (p.Glu947Asp)
c.2862A>C (p.Glu954Asp)
n.2989A>C
c.2556A>C (p.Glu852Asp)
c.2814A>C (p.Glu938Asp)
c.2709A>C (p.Glu903Asp)
c.2655A>C (p.Glu885Asp)
c.2733A>C (p.Glu911Asp)
c.2484A>C (p.Glu828Asp)
c.2715A>C (p.Glu905Asp)
c.1641A>C (p.Glu547Asp)
n.2696A>C
1g.151406195T>ACA341948346POGZc.2888A>T (p.Glu963Val)
c.2681A>T (p.Glu894Val)
c.2840A>T (p.Glu947Val)
c.2861A>T (p.Glu954Val)
n.2988A>T
c.2555A>T (p.Glu852Val)
c.2813A>T (p.Glu938Val)
c.2708A>T (p.Glu903Val)
c.2654A>T (p.Glu885Val)
c.2732A>T (p.Glu911Val)
c.2483A>T (p.Glu828Val)
c.2714A>T (p.Glu905Val)
c.1640A>T (p.Glu547Val)
n.2695A>T
1g.151406195T>CCA341948339POGZc.2888A>G (p.Glu963Gly)
c.2681A>G (p.Glu894Gly)
c.2840A>G (p.Glu947Gly)
c.2861A>G (p.Glu954Gly)
n.2988A>G
c.2555A>G (p.Glu852Gly)
c.2813A>G (p.Glu938Gly)
c.2708A>G (p.Glu903Gly)
c.2654A>G (p.Glu885Gly)
c.2732A>G (p.Glu911Gly)
c.2483A>G (p.Glu828Gly)
c.2714A>G (p.Glu905Gly)
c.1640A>G (p.Glu547Gly)
n.2695A>G
1g.151406195T>GCA341948343POGZc.2888A>C (p.Glu963Ala)
c.2681A>C (p.Glu894Ala)
c.2840A>C (p.Glu947Ala)
c.2861A>C (p.Glu954Ala)
n.2988A>C
c.2555A>C (p.Glu852Ala)
c.2813A>C (p.Glu938Ala)
c.2708A>C (p.Glu903Ala)
c.2654A>C (p.Glu885Ala)
c.2732A>C (p.Glu911Ala)
c.2483A>C (p.Glu828Ala)
c.2714A>C (p.Glu905Ala)
c.1640A>C (p.Glu547Ala)
n.2695A>C
1g.151406196C>ACA341948353POGZc.2887G>T (p.Glu963Ter)
c.2680G>T (p.Glu894Ter)
c.2839G>T (p.Glu947Ter)
c.2860G>T (p.Glu954Ter)
n.2987G>T
c.2554G>T (p.Glu852Ter)
c.2812G>T (p.Glu938Ter)
c.2707G>T (p.Glu903Ter)
c.2653G>T (p.Glu885Ter)
c.2731G>T (p.Glu911Ter)
c.2482G>T (p.Glu828Ter)
c.2713G>T (p.Glu905Ter)
c.1639G>T (p.Glu547Ter)
n.2694G>T
1g.151406196C>GCA341948355POGZc.2887G>C (p.Glu963Gln)
c.2680G>C (p.Glu894Gln)
c.2839G>C (p.Glu947Gln)
c.2860G>C (p.Glu954Gln)
n.2987G>C
c.2554G>C (p.Glu852Gln)
c.2812G>C (p.Glu938Gln)
c.2707G>C (p.Glu903Gln)
c.2653G>C (p.Glu885Gln)
c.2731G>C (p.Glu911Gln)
c.2482G>C (p.Glu828Gln)
c.2713G>C (p.Glu905Gln)
c.1639G>C (p.Glu547Gln)
n.2694G>C
1g.151406196C>TCA341948357POGZc.2887G>A (p.Glu963Lys)
c.2680G>A (p.Glu894Lys)
c.2839G>A (p.Glu947Lys)
c.2860G>A (p.Glu954Lys)
n.2987G>A
c.2554G>A (p.Glu852Lys)
c.2812G>A (p.Glu938Lys)
c.2707G>A (p.Glu903Lys)
c.2653G>A (p.Glu885Lys)
c.2731G>A (p.Glu911Lys)
c.2482G>A (p.Glu828Lys)
c.2713G>A (p.Glu905Lys)
c.1639G>A (p.Glu547Lys)
n.2694G>A
1g.151406197A>CCA341948370POGZc.2886T>G (p.Asp962Glu)
c.2679T>G (p.Asp893Glu)
c.2838T>G (p.Asp946Glu)
c.2859T>G (p.Asp953Glu)
n.2986T>G
c.2553T>G (p.Asp851Glu)
c.2811T>G (p.Asp937Glu)
c.2706T>G (p.Asp902Glu)
c.2652T>G (p.Asp884Glu)
c.2730T>G (p.Asp910Glu)
c.2481T>G (p.Asp827Glu)
c.2712T>G (p.Asp904Glu)
c.1638T>G (p.Asp546Glu)
n.2693T>G
1g.151406197A>GCA420910065POGZc.2886T>C (p.Asp962=)
c.2679T>C (p.Asp893=)
c.2838T>C (p.Asp946=)
c.2859T>C (p.Asp953=)
n.2986T>C
c.2553T>C (p.Asp851=)
c.2811T>C (p.Asp937=)
c.2706T>C (p.Asp902=)
c.2652T>C (p.Asp884=)
c.2730T>C (p.Asp910=)
c.2481T>C (p.Asp827=)
c.2712T>C (p.Asp904=)
c.1638T>C (p.Asp546=)
n.2693T>C
 gnomAD v4
1g.151406197A>TCA341948374POGZc.2886T>A (p.Asp962Glu)
c.2679T>A (p.Asp893Glu)
c.2838T>A (p.Asp946Glu)
c.2859T>A (p.Asp953Glu)
n.2986T>A
c.2553T>A (p.Asp851Glu)
c.2811T>A (p.Asp937Glu)
c.2706T>A (p.Asp902Glu)
c.2652T>A (p.Asp884Glu)
c.2730T>A (p.Asp910Glu)
c.2481T>A (p.Asp827Glu)
c.2712T>A (p.Asp904Glu)
c.1638T>A (p.Asp546Glu)
n.2693T>A
1g.151406198T>ACA341948375POGZc.2885A>T (p.Asp962Val)
c.2678A>T (p.Asp893Val)
c.2837A>T (p.Asp946Val)
c.2858A>T (p.Asp953Val)
n.2985A>T
c.2552A>T (p.Asp851Val)
c.2810A>T (p.Asp937Val)
c.2705A>T (p.Asp902Val)
c.2651A>T (p.Asp884Val)
c.2729A>T (p.Asp910Val)
c.2480A>T (p.Asp827Val)
c.2711A>T (p.Asp904Val)
c.1637A>T (p.Asp546Val)
n.2692A>T
 gnomAD v4
1g.151406198T>CCA341948376POGZc.2885A>G (p.Asp962Gly)
c.2678A>G (p.Asp893Gly)
c.2837A>G (p.Asp946Gly)
c.2858A>G (p.Asp953Gly)
n.2985A>G
c.2552A>G (p.Asp851Gly)
c.2810A>G (p.Asp937Gly)
c.2705A>G (p.Asp902Gly)
c.2651A>G (p.Asp884Gly)
c.2729A>G (p.Asp910Gly)
c.2480A>G (p.Asp827Gly)
c.2711A>G (p.Asp904Gly)
c.1637A>G (p.Asp546Gly)
n.2692A>G
1g.151406198T>GCA341948379POGZc.2885A>C (p.Asp962Ala)
c.2678A>C (p.Asp893Ala)
c.2837A>C (p.Asp946Ala)
c.2858A>C (p.Asp953Ala)
n.2985A>C
c.2552A>C (p.Asp851Ala)
c.2810A>C (p.Asp937Ala)
c.2705A>C (p.Asp902Ala)
c.2651A>C (p.Asp884Ala)
c.2729A>C (p.Asp910Ala)
c.2480A>C (p.Asp827Ala)
c.2711A>C (p.Asp904Ala)
c.1637A>C (p.Asp546Ala)
n.2692A>C
1g.151406198_151406199delinsTCCA2479570551POGZc.2884_2885delinsGA (p.Asp962=)
c.2677_2678delinsGA (p.Asp893=)
c.2836_2837delinsGA (p.Asp946=)
c.2857_2858delinsGA (p.Asp953=)
n.2984_2985delinsGA
c.2551_2552delinsGA (p.Asp851=)
c.2809_2810delinsGA (p.Asp937=)
c.2704_2705delinsGA (p.Asp902=)
c.2650_2651delinsGA (p.Asp884=)
c.2728_2729delinsGA (p.Asp910=)
c.2479_2480delinsGA (p.Asp827=)
c.2710_2711delinsGA (p.Asp904=)
c.1636_1637delinsGA (p.Asp546=)
n.2691_2692delinsGA
1g.151406199C>ACA341948383POGZc.2884G>T (p.Asp962Tyr)
c.2677G>T (p.Asp893Tyr)
c.2836G>T (p.Asp946Tyr)
c.2857G>T (p.Asp953Tyr)
n.2984G>T
c.2551G>T (p.Asp851Tyr)
c.2809G>T (p.Asp937Tyr)
c.2704G>T (p.Asp902Tyr)
c.2650G>T (p.Asp884Tyr)
c.2728G>T (p.Asp910Tyr)
c.2479G>T (p.Asp827Tyr)
c.2710G>T (p.Asp904Tyr)
c.1636G>T (p.Asp546Tyr)
n.2691G>T
1g.151406199C=CA1145446737POGZc.2884G= (p.Asp962=)
c.2677G= (p.Asp893=)
c.2836G= (p.Asp946=)
c.2857G= (p.Asp953=)
n.2984G=
c.2551G= (p.Asp851=)
c.2809G= (p.Asp937=)
c.2704G= (p.Asp902=)
c.2650G= (p.Asp884=)
c.2728G= (p.Asp910=)
c.2479G= (p.Asp827=)
c.2710G= (p.Asp904=)
c.1636G= (p.Asp546=)
n.2691G=
1g.151406199C>GCA341948384POGZc.2884G>C (p.Asp962His)
c.2677G>C (p.Asp893His)
c.2836G>C (p.Asp946His)
c.2857G>C (p.Asp953His)
n.2984G>C
c.2551G>C (p.Asp851His)
c.2809G>C (p.Asp937His)
c.2704G>C (p.Asp902His)
c.2650G>C (p.Asp884His)
c.2728G>C (p.Asp910His)
c.2479G>C (p.Asp827His)
c.2710G>C (p.Asp904His)
c.1636G>C (p.Asp546His)
n.2691G>C
1g.151406199C>TCA1091052POGZc.2884G>A (p.Asp962Asn)
c.2677G>A (p.Asp893Asn)
c.2836G>A (p.Asp946Asn)
c.2857G>A (p.Asp953Asn)
n.2984G>A
c.2551G>A (p.Asp851Asn)
c.2809G>A (p.Asp937Asn)
c.2704G>A (p.Asp902Asn)
c.2650G>A (p.Asp884Asn)
c.2728G>A (p.Asp910Asn)
c.2479G>A (p.Asp827Asn)
c.2710G>A (p.Asp904Asn)
c.1636G>A (p.Asp546Asn)
n.2691G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406200delCA915941412POGZc.2884del (p.Asp962MetfsTer12)
c.2677del (p.Asp893MetfsTer12)
c.2836del (p.Asp946MetfsTer12)
c.2857del (p.Asp953MetfsTer12)
n.2984del
c.2551del (p.Asp851MetfsTer12)
c.2809del (p.Asp937MetfsTer12)
c.2704del (p.Asp902MetfsTer12)
c.2650del (p.Asp884MetfsTer12)
c.2728del (p.Asp910MetfsTer12)
c.2479del (p.Asp827MetfsTer12)
c.2710del (p.Asp904MetfsTer12)
c.1636del (p.Asp546MetfsTer12)
n.2691del
 ClinVar dbSNP
1g.151406200C>ACA341948387POGZc.2883G>T (p.Gln961His)
c.2676G>T (p.Gln892His)
c.2835G>T (p.Gln945His)
c.2856G>T (p.Gln952His)
n.2983G>T
c.2550G>T (p.Gln850His)
c.2808G>T (p.Gln936His)
c.2703G>T (p.Gln901His)
c.2649G>T (p.Gln883His)
c.2727G>T (p.Gln909His)
c.2478G>T (p.Gln826His)
c.2709G>T (p.Gln903His)
c.1635G>T (p.Gln545His)
n.2690G>T
1g.151406200C=CA2479570552POGZc.2883G= (p.Gln961=)
c.2676G= (p.Gln892=)
c.2835G= (p.Gln945=)
c.2856G= (p.Gln952=)
n.2983G=
c.2550G= (p.Gln850=)
c.2808G= (p.Gln936=)
c.2703G= (p.Gln901=)
c.2649G= (p.Gln883=)
c.2727G= (p.Gln909=)
c.2478G= (p.Gln826=)
c.2709G= (p.Gln903=)
c.1635G= (p.Gln545=)
n.2690G=
1g.151406200C>GCA1091053POGZc.2883G>C (p.Gln961His)
c.2676G>C (p.Gln892His)
c.2835G>C (p.Gln945His)
c.2856G>C (p.Gln952His)
n.2983G>C
c.2550G>C (p.Gln850His)
c.2808G>C (p.Gln936His)
c.2703G>C (p.Gln901His)
c.2649G>C (p.Gln883His)
c.2727G>C (p.Gln909His)
c.2478G>C (p.Gln826His)
c.2709G>C (p.Gln903His)
c.1635G>C (p.Gln545His)
n.2690G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406200C>TCA420910070POGZc.2883G>A (p.Gln961=)
c.2676G>A (p.Gln892=)
c.2835G>A (p.Gln945=)
c.2856G>A (p.Gln952=)
n.2983G>A
c.2550G>A (p.Gln850=)
c.2808G>A (p.Gln936=)
c.2703G>A (p.Gln901=)
c.2649G>A (p.Gln883=)
c.2727G>A (p.Gln909=)
c.2478G>A (p.Gln826=)
c.2709G>A (p.Gln903=)
c.1635G>A (p.Gln545=)
n.2690G>A
 gnomAD v4
1g.151406201T>ACA341948393POGZc.2882A>T (p.Gln961Leu)
c.2675A>T (p.Gln892Leu)
c.2834A>T (p.Gln945Leu)
c.2855A>T (p.Gln952Leu)
n.2982A>T
c.2549A>T (p.Gln850Leu)
c.2807A>T (p.Gln936Leu)
c.2702A>T (p.Gln901Leu)
c.2648A>T (p.Gln883Leu)
c.2726A>T (p.Gln909Leu)
c.2477A>T (p.Gln826Leu)
c.2708A>T (p.Gln903Leu)
c.1634A>T (p.Gln545Leu)
n.2689A>T
1g.151406201T>CCA341948403POGZc.2882A>G (p.Gln961Arg)
c.2675A>G (p.Gln892Arg)
c.2834A>G (p.Gln945Arg)
c.2855A>G (p.Gln952Arg)
n.2982A>G
c.2549A>G (p.Gln850Arg)
c.2807A>G (p.Gln936Arg)
c.2702A>G (p.Gln901Arg)
c.2648A>G (p.Gln883Arg)
c.2726A>G (p.Gln909Arg)
c.2477A>G (p.Gln826Arg)
c.2708A>G (p.Gln903Arg)
c.1634A>G (p.Gln545Arg)
n.2689A>G
1g.151406201T>GCA341948399POGZc.2882A>C (p.Gln961Pro)
c.2675A>C (p.Gln892Pro)
c.2834A>C (p.Gln945Pro)
c.2855A>C (p.Gln952Pro)
n.2982A>C
c.2549A>C (p.Gln850Pro)
c.2807A>C (p.Gln936Pro)
c.2702A>C (p.Gln901Pro)
c.2648A>C (p.Gln883Pro)
c.2726A>C (p.Gln909Pro)
c.2477A>C (p.Gln826Pro)
c.2708A>C (p.Gln903Pro)
c.1634A>C (p.Gln545Pro)
n.2689A>C
1g.151406202G>ACA341948404POGZc.2881C>T (p.Gln961Ter)
c.2674C>T (p.Gln892Ter)
c.2833C>T (p.Gln945Ter)
c.2854C>T (p.Gln952Ter)
n.2981C>T
c.2548C>T (p.Gln850Ter)
c.2806C>T (p.Gln936Ter)
c.2701C>T (p.Gln901Ter)
c.2647C>T (p.Gln883Ter)
c.2725C>T (p.Gln909Ter)
c.2476C>T (p.Gln826Ter)
c.2707C>T (p.Gln903Ter)
c.1633C>T (p.Gln545Ter)
n.2688C>T
1g.151406202G>CCA1091055POGZc.2881C>G (p.Gln961Glu)
c.2674C>G (p.Gln892Glu)
c.2833C>G (p.Gln945Glu)
c.2854C>G (p.Gln952Glu)
n.2981C>G
c.2548C>G (p.Gln850Glu)
c.2806C>G (p.Gln936Glu)
c.2701C>G (p.Gln901Glu)
c.2647C>G (p.Gln883Glu)
c.2725C>G (p.Gln909Glu)
c.2476C>G (p.Gln826Glu)
c.2707C>G (p.Gln903Glu)
c.1633C>G (p.Gln545Glu)
n.2688C>G
 dbSNP ExAC gnomAD v2
1g.151406202G=CA2479570553POGZc.2881C= (p.Gln961=)
c.2674C= (p.Gln892=)
c.2833C= (p.Gln945=)
c.2854C= (p.Gln952=)
n.2981C=
c.2548C= (p.Gln850=)
c.2806C= (p.Gln936=)
c.2701C= (p.Gln901=)
c.2647C= (p.Gln883=)
c.2725C= (p.Gln909=)
c.2476C= (p.Gln826=)
c.2707C= (p.Gln903=)
c.1633C= (p.Gln545=)
n.2688C=
1g.151406202G>TCA1091054POGZc.2881C>A (p.Gln961Lys)
c.2674C>A (p.Gln892Lys)
c.2833C>A (p.Gln945Lys)
c.2854C>A (p.Gln952Lys)
n.2981C>A
c.2548C>A (p.Gln850Lys)
c.2806C>A (p.Gln936Lys)
c.2701C>A (p.Gln901Lys)
c.2647C>A (p.Gln883Lys)
c.2725C>A (p.Gln909Lys)
c.2476C>A (p.Gln826Lys)
c.2707C>A (p.Gln903Lys)
c.1633C>A (p.Gln545Lys)
n.2688C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406203A=CA2479570554POGZc.2880T= (p.Asp960=)
c.2673T= (p.Asp891=)
c.2832T= (p.Asp944=)
c.2853T= (p.Asp951=)
n.2980T=
c.2547T= (p.Asp849=)
c.2805T= (p.Asp935=)
c.2700T= (p.Asp900=)
c.2646T= (p.Asp882=)
c.2724T= (p.Asp908=)
c.2475T= (p.Asp825=)
c.2706T= (p.Asp902=)
c.1632T= (p.Asp544=)
n.2687T=
1g.151406203A>CCA341948409POGZc.2880T>G (p.Asp960Glu)
c.2673T>G (p.Asp891Glu)
c.2832T>G (p.Asp944Glu)
c.2853T>G (p.Asp951Glu)
n.2980T>G
c.2547T>G (p.Asp849Glu)
c.2805T>G (p.Asp935Glu)
c.2700T>G (p.Asp900Glu)
c.2646T>G (p.Asp882Glu)
c.2724T>G (p.Asp908Glu)
c.2475T>G (p.Asp825Glu)
c.2706T>G (p.Asp902Glu)
c.1632T>G (p.Asp544Glu)
n.2687T>G
1g.151406203A>GCA420910077POGZc.2880T>C (p.Asp960=)
c.2673T>C (p.Asp891=)
c.2832T>C (p.Asp944=)
c.2853T>C (p.Asp951=)
n.2980T>C
c.2547T>C (p.Asp849=)
c.2805T>C (p.Asp935=)
c.2700T>C (p.Asp900=)
c.2646T>C (p.Asp882=)
c.2724T>C (p.Asp908=)
c.2475T>C (p.Asp825=)
c.2706T>C (p.Asp902=)
c.1632T>C (p.Asp544=)
n.2687T>C
 dbSNP gnomAD v3 gnomAD v4
1g.151406203A>TCA341948413POGZc.2880T>A (p.Asp960Glu)
c.2673T>A (p.Asp891Glu)
c.2832T>A (p.Asp944Glu)
c.2853T>A (p.Asp951Glu)
n.2980T>A
c.2547T>A (p.Asp849Glu)
c.2805T>A (p.Asp935Glu)
c.2700T>A (p.Asp900Glu)
c.2646T>A (p.Asp882Glu)
c.2724T>A (p.Asp908Glu)
c.2475T>A (p.Asp825Glu)
c.2706T>A (p.Asp902Glu)
c.1632T>A (p.Asp544Glu)
n.2687T>A
 gnomAD v4 COSMIC COSMIC
1g.151406207_151406209delCA2647920375POGZc.2878_2880del (p.Asp960del)
c.2671_2673del (p.Asp891del)
c.2830_2832del (p.Asp944del)
c.2851_2853del (p.Asp951del)
n.2978_2980del
c.2545_2547del (p.Asp849del)
c.2803_2805del (p.Asp935del)
c.2698_2700del (p.Asp900del)
c.2644_2646del (p.Asp882del)
c.2722_2724del (p.Asp908del)
c.2473_2475del (p.Asp825del)
c.2704_2706del (p.Asp902del)
c.1630_1632del (p.Asp544del)
n.2685_2687del
 gnomAD v4
1g.151406204T>ACA341948420POGZc.2879A>T (p.Asp960Val)
c.2672A>T (p.Asp891Val)
c.2831A>T (p.Asp944Val)
c.2852A>T (p.Asp951Val)
n.2979A>T
c.2546A>T (p.Asp849Val)
c.2804A>T (p.Asp935Val)
c.2699A>T (p.Asp900Val)
c.2645A>T (p.Asp882Val)
c.2723A>T (p.Asp908Val)
c.2474A>T (p.Asp825Val)
c.2705A>T (p.Asp902Val)
c.1631A>T (p.Asp544Val)
n.2686A>T
1g.151406204T>CCA341948422POGZc.2879A>G (p.Asp960Gly)
c.2672A>G (p.Asp891Gly)
c.2831A>G (p.Asp944Gly)
c.2852A>G (p.Asp951Gly)
n.2979A>G
c.2546A>G (p.Asp849Gly)
c.2804A>G (p.Asp935Gly)
c.2699A>G (p.Asp900Gly)
c.2645A>G (p.Asp882Gly)
c.2723A>G (p.Asp908Gly)
c.2474A>G (p.Asp825Gly)
c.2705A>G (p.Asp902Gly)
c.1631A>G (p.Asp544Gly)
n.2686A>G
1g.151406204T>GCA341948425POGZc.2879A>C (p.Asp960Ala)
c.2672A>C (p.Asp891Ala)
c.2831A>C (p.Asp944Ala)
c.2852A>C (p.Asp951Ala)
n.2979A>C
c.2546A>C (p.Asp849Ala)
c.2804A>C (p.Asp935Ala)
c.2699A>C (p.Asp900Ala)
c.2645A>C (p.Asp882Ala)
c.2723A>C (p.Asp908Ala)
c.2474A>C (p.Asp825Ala)
c.2705A>C (p.Asp902Ala)
c.1631A>C (p.Asp544Ala)
n.2686A>C
1g.151406204_151406218delinsTCATCAACATTCAGACA2479570555POGZc.2865_2879delinsTCTGAATGTTGATGA (p.Cys955=)
c.2658_2672delinsTCTGAATGTTGATGA (p.Cys886=)
c.2817_2831delinsTCTGAATGTTGATGA (p.Cys939=)
c.2838_2852delinsTCTGAATGTTGATGA (p.Cys946=)
n.2965_2979delinsTCTGAATGTTGATGA
c.2532_2546delinsTCTGAATGTTGATGA (p.Cys844=)
c.2790_2804delinsTCTGAATGTTGATGA (p.Cys930=)
c.2685_2699delinsTCTGAATGTTGATGA (p.Cys895=)
c.2631_2645delinsTCTGAATGTTGATGA (p.Cys877=)
c.2709_2723delinsTCTGAATGTTGATGA (p.Cys903=)
c.2460_2474delinsTCTGAATGTTGATGA (p.Cys820=)
c.2691_2705delinsTCTGAATGTTGATGA (p.Cys897=)
c.1617_1631delinsTCTGAATGTTGATGA (p.Cys539=)
n.2672_2686delinsTCTGAATGTTGATGA
1g.151406205C>ACA341948432POGZc.2878G>T (p.Asp960Tyr)
c.2671G>T (p.Asp891Tyr)
c.2830G>T (p.Asp944Tyr)
c.2851G>T (p.Asp951Tyr)
n.2978G>T
c.2545G>T (p.Asp849Tyr)
c.2803G>T (p.Asp935Tyr)
c.2698G>T (p.Asp900Tyr)
c.2644G>T (p.Asp882Tyr)
c.2722G>T (p.Asp908Tyr)
c.2473G>T (p.Asp825Tyr)
c.2704G>T (p.Asp902Tyr)
c.1630G>T (p.Asp544Tyr)
n.2685G>T
1g.151406205C=CA2479570556POGZc.2878G= (p.Asp960=)
c.2671G= (p.Asp891=)
c.2830G= (p.Asp944=)
c.2851G= (p.Asp951=)
n.2978G=
c.2545G= (p.Asp849=)
c.2803G= (p.Asp935=)
c.2698G= (p.Asp900=)
c.2644G= (p.Asp882=)
c.2722G= (p.Asp908=)
c.2473G= (p.Asp825=)
c.2704G= (p.Asp902=)
c.1630G= (p.Asp544=)
n.2685G=
1g.151406205C>GCA341948436POGZc.2878G>C (p.Asp960His)
c.2671G>C (p.Asp891His)
c.2830G>C (p.Asp944His)
c.2851G>C (p.Asp951His)
n.2978G>C
c.2545G>C (p.Asp849His)
c.2803G>C (p.Asp935His)
c.2698G>C (p.Asp900His)
c.2644G>C (p.Asp882His)
c.2722G>C (p.Asp908His)
c.2473G>C (p.Asp825His)
c.2704G>C (p.Asp902His)
c.1630G>C (p.Asp544His)
n.2685G>C
1g.151406205C>TCA341948441POGZc.2878G>A (p.Asp960Asn)
c.2671G>A (p.Asp891Asn)
c.2830G>A (p.Asp944Asn)
c.2851G>A (p.Asp951Asn)
n.2978G>A
c.2545G>A (p.Asp849Asn)
c.2803G>A (p.Asp935Asn)
c.2698G>A (p.Asp900Asn)
c.2644G>A (p.Asp882Asn)
c.2722G>A (p.Asp908Asn)
c.2473G>A (p.Asp825Asn)
c.2704G>A (p.Asp902Asn)
c.1630G>A (p.Asp544Asn)
n.2685G>A
 dbSNP
1g.151406208_151406221delCA658795514POGZc.2865_2878del (p.Cys955Ter)
c.2658_2671del (p.Cys886Ter)
c.2817_2830del (p.Cys939Ter)
c.2838_2851del (p.Cys946Ter)
n.2965_2978del
c.2532_2545del (p.Cys844Ter)
c.2790_2803del (p.Cys930Ter)
c.2685_2698del (p.Cys895Ter)
c.2631_2644del (p.Cys877Ter)
c.2709_2722del (p.Cys903Ter)
c.2460_2473del (p.Cys820Ter)
c.2691_2704del (p.Cys897Ter)
c.1617_1630del (p.Cys539Ter)
n.2672_2685del
 ClinVar dbSNP
1g.151406206A>CCA341948444POGZc.2877T>G (p.Asp959Glu)
c.2670T>G (p.Asp890Glu)
c.2829T>G (p.Asp943Glu)
c.2850T>G (p.Asp950Glu)
n.2977T>G
c.2544T>G (p.Asp848Glu)
c.2802T>G (p.Asp934Glu)
c.2697T>G (p.Asp899Glu)
c.2643T>G (p.Asp881Glu)
c.2721T>G (p.Asp907Glu)
c.2472T>G (p.Asp824Glu)
c.2703T>G (p.Asp901Glu)
c.1629T>G (p.Asp543Glu)
n.2684T>G
1g.151406206A>GCA420910081POGZc.2877T>C (p.Asp959=)
c.2670T>C (p.Asp890=)
c.2829T>C (p.Asp943=)
c.2850T>C (p.Asp950=)
n.2977T>C
c.2544T>C (p.Asp848=)
c.2802T>C (p.Asp934=)
c.2697T>C (p.Asp899=)
c.2643T>C (p.Asp881=)
c.2721T>C (p.Asp907=)
c.2472T>C (p.Asp824=)
c.2703T>C (p.Asp901=)
c.1629T>C (p.Asp543=)
n.2684T>C
1g.151406206A>TCA341948448POGZc.2877T>A (p.Asp959Glu)
c.2670T>A (p.Asp890Glu)
c.2829T>A (p.Asp943Glu)
c.2850T>A (p.Asp950Glu)
n.2977T>A
c.2544T>A (p.Asp848Glu)
c.2802T>A (p.Asp934Glu)
c.2697T>A (p.Asp899Glu)
c.2643T>A (p.Asp881Glu)
c.2721T>A (p.Asp907Glu)
c.2472T>A (p.Asp824Glu)
c.2703T>A (p.Asp901Glu)
c.1629T>A (p.Asp543Glu)
n.2684T>A
1g.151406207T>ACA341948452POGZc.2876A>T (p.Asp959Val)
c.2669A>T (p.Asp890Val)
c.2828A>T (p.Asp943Val)
c.2849A>T (p.Asp950Val)
n.2976A>T
c.2543A>T (p.Asp848Val)
c.2801A>T (p.Asp934Val)
c.2696A>T (p.Asp899Val)
c.2642A>T (p.Asp881Val)
c.2720A>T (p.Asp907Val)
c.2471A>T (p.Asp824Val)
c.2702A>T (p.Asp901Val)
c.1628A>T (p.Asp543Val)
n.2683A>T
1g.151406207T>CCA341948459POGZc.2876A>G (p.Asp959Gly)
c.2669A>G (p.Asp890Gly)
c.2828A>G (p.Asp943Gly)
c.2849A>G (p.Asp950Gly)
n.2976A>G
c.2543A>G (p.Asp848Gly)
c.2801A>G (p.Asp934Gly)
c.2696A>G (p.Asp899Gly)
c.2642A>G (p.Asp881Gly)
c.2720A>G (p.Asp907Gly)
c.2471A>G (p.Asp824Gly)
c.2702A>G (p.Asp901Gly)
c.1628A>G (p.Asp543Gly)
n.2683A>G
 dbSNP
1g.151406207T>GCA341948455POGZc.2876A>C (p.Asp959Ala)
c.2669A>C (p.Asp890Ala)
c.2828A>C (p.Asp943Ala)
c.2849A>C (p.Asp950Ala)
n.2976A>C
c.2543A>C (p.Asp848Ala)
c.2801A>C (p.Asp934Ala)
c.2696A>C (p.Asp899Ala)
c.2642A>C (p.Asp881Ala)
c.2720A>C (p.Asp907Ala)
c.2471A>C (p.Asp824Ala)
c.2702A>C (p.Asp901Ala)
c.1628A>C (p.Asp543Ala)
n.2683A>C
1g.151406207T=CA2479570557POGZc.2876A= (p.Asp959=)
c.2669A= (p.Asp890=)
c.2828A= (p.Asp943=)
c.2849A= (p.Asp950=)
n.2976A=
c.2543A= (p.Asp848=)
c.2801A= (p.Asp934=)
c.2696A= (p.Asp899=)
c.2642A= (p.Asp881=)
c.2720A= (p.Asp907=)
c.2471A= (p.Asp824=)
c.2702A= (p.Asp901=)
c.1628A= (p.Asp543=)
n.2683A=
1g.151406208C>ACA341948464POGZc.2875G>T (p.Asp959Tyr)
c.2668G>T (p.Asp890Tyr)
c.2827G>T (p.Asp943Tyr)
c.2848G>T (p.Asp950Tyr)
n.2975G>T
c.2542G>T (p.Asp848Tyr)
c.2800G>T (p.Asp934Tyr)
c.2695G>T (p.Asp899Tyr)
c.2641G>T (p.Asp881Tyr)
c.2719G>T (p.Asp907Tyr)
c.2470G>T (p.Asp824Tyr)
c.2701G>T (p.Asp901Tyr)
c.1627G>T (p.Asp543Tyr)
n.2682G>T
1g.151406208C>GCA341948467POGZc.2875G>C (p.Asp959His)
c.2668G>C (p.Asp890His)
c.2827G>C (p.Asp943His)
c.2848G>C (p.Asp950His)
n.2975G>C
c.2542G>C (p.Asp848His)
c.2800G>C (p.Asp934His)
c.2695G>C (p.Asp899His)
c.2641G>C (p.Asp881His)
c.2719G>C (p.Asp907His)
c.2470G>C (p.Asp824His)
c.2701G>C (p.Asp901His)
c.1627G>C (p.Asp543His)
n.2682G>C
1g.151406208C>TCA341948470POGZc.2875G>A (p.Asp959Asn)
c.2668G>A (p.Asp890Asn)
c.2827G>A (p.Asp943Asn)
c.2848G>A (p.Asp950Asn)
n.2975G>A
c.2542G>A (p.Asp848Asn)
c.2800G>A (p.Asp934Asn)
c.2695G>A (p.Asp899Asn)
c.2641G>A (p.Asp881Asn)
c.2719G>A (p.Asp907Asn)
c.2470G>A (p.Asp824Asn)
c.2701G>A (p.Asp901Asn)
c.1627G>A (p.Asp543Asn)
n.2682G>A
1g.151406209A>CCA420910087POGZc.2874T>G (p.Val958=)
c.2667T>G (p.Val889=)
c.2826T>G (p.Val942=)
c.2847T>G (p.Val949=)
n.2974T>G
c.2541T>G (p.Val847=)
c.2799T>G (p.Val933=)
c.2694T>G (p.Val898=)
c.2640T>G (p.Val880=)
c.2718T>G (p.Val906=)
c.2469T>G (p.Val823=)
c.2700T>G (p.Val900=)
c.1626T>G (p.Val542=)
n.2681T>G
1g.151406209A>GCA420910088POGZc.2874T>C (p.Val958=)
c.2667T>C (p.Val889=)
c.2826T>C (p.Val942=)
c.2847T>C (p.Val949=)
n.2974T>C
c.2541T>C (p.Val847=)
c.2799T>C (p.Val933=)
c.2694T>C (p.Val898=)
c.2640T>C (p.Val880=)
c.2718T>C (p.Val906=)
c.2469T>C (p.Val823=)
c.2700T>C (p.Val900=)
c.1626T>C (p.Val542=)
n.2681T>C
1g.151406209A>TCA420910089POGZc.2874T>A (p.Val958=)
c.2667T>A (p.Val889=)
c.2826T>A (p.Val942=)
c.2847T>A (p.Val949=)
n.2974T>A
c.2541T>A (p.Val847=)
c.2799T>A (p.Val933=)
c.2694T>A (p.Val898=)
c.2640T>A (p.Val880=)
c.2718T>A (p.Val906=)
c.2469T>A (p.Val823=)
c.2700T>A (p.Val900=)
c.1626T>A (p.Val542=)
n.2681T>A
1g.151406209_151406216delCA2580061025POGZc.2867_2874del (p.Leu956ArgfsTer2)
c.2660_2667del (p.Leu887ArgfsTer2)
c.2819_2826del (p.Leu940ArgfsTer2)
c.2840_2847del (p.Leu947ArgfsTer2)
n.2967_2974del
c.2534_2541del (p.Leu845ArgfsTer2)
c.2792_2799del (p.Leu931ArgfsTer2)
c.2687_2694del (p.Leu896ArgfsTer2)
c.2633_2640del (p.Leu878ArgfsTer2)
c.2711_2718del (p.Leu904ArgfsTer2)
c.2462_2469del (p.Leu821ArgfsTer2)
c.2693_2700del (p.Leu898ArgfsTer2)
c.1619_1626del (p.Leu540ArgfsTer2)
n.2674_2681del
 ClinVar
1g.151406210A>CCA341948474POGZc.2873T>G (p.Val958Gly)
c.2666T>G (p.Val889Gly)
c.2825T>G (p.Val942Gly)
c.2846T>G (p.Val949Gly)
n.2973T>G
c.2540T>G (p.Val847Gly)
c.2798T>G (p.Val933Gly)
c.2693T>G (p.Val898Gly)
c.2639T>G (p.Val880Gly)
c.2717T>G (p.Val906Gly)
c.2468T>G (p.Val823Gly)
c.2699T>G (p.Val900Gly)
c.1625T>G (p.Val542Gly)
n.2680T>G
 gnomAD v4
1g.151406210A>GCA341948477POGZc.2873T>C (p.Val958Ala)
c.2666T>C (p.Val889Ala)
c.2825T>C (p.Val942Ala)
c.2846T>C (p.Val949Ala)
n.2973T>C
c.2540T>C (p.Val847Ala)
c.2798T>C (p.Val933Ala)
c.2693T>C (p.Val898Ala)
c.2639T>C (p.Val880Ala)
c.2717T>C (p.Val906Ala)
c.2468T>C (p.Val823Ala)
c.2699T>C (p.Val900Ala)
c.1625T>C (p.Val542Ala)
n.2680T>C
1g.151406210A>TCA341948481POGZc.2873T>A (p.Val958Asp)
c.2666T>A (p.Val889Asp)
c.2825T>A (p.Val942Asp)
c.2846T>A (p.Val949Asp)
n.2973T>A
c.2540T>A (p.Val847Asp)
c.2798T>A (p.Val933Asp)
c.2693T>A (p.Val898Asp)
c.2639T>A (p.Val880Asp)
c.2717T>A (p.Val906Asp)
c.2468T>A (p.Val823Asp)
c.2699T>A (p.Val900Asp)
c.1625T>A (p.Val542Asp)
n.2680T>A
1g.151406211C>ACA341948482POGZc.2872G>T (p.Val958Phe)
c.2665G>T (p.Val889Phe)
c.2824G>T (p.Val942Phe)
c.2845G>T (p.Val949Phe)
n.2972G>T
c.2539G>T (p.Val847Phe)
c.2797G>T (p.Val933Phe)
c.2692G>T (p.Val898Phe)
c.2638G>T (p.Val880Phe)
c.2716G>T (p.Val906Phe)
c.2467G>T (p.Val823Phe)
c.2698G>T (p.Val900Phe)
c.1624G>T (p.Val542Phe)
n.2679G>T
1g.151406211C>GCA341948483POGZc.2872G>C (p.Val958Leu)
c.2665G>C (p.Val889Leu)
c.2824G>C (p.Val942Leu)
c.2845G>C (p.Val949Leu)
n.2972G>C
c.2539G>C (p.Val847Leu)
c.2797G>C (p.Val933Leu)
c.2692G>C (p.Val898Leu)
c.2638G>C (p.Val880Leu)
c.2716G>C (p.Val906Leu)
c.2467G>C (p.Val823Leu)
c.2698G>C (p.Val900Leu)
c.1624G>C (p.Val542Leu)
n.2679G>C
1g.151406211C>TCA341948486POGZc.2872G>A (p.Val958Ile)
c.2665G>A (p.Val889Ile)
c.2824G>A (p.Val942Ile)
c.2845G>A (p.Val949Ile)
n.2972G>A
c.2539G>A (p.Val847Ile)
c.2797G>A (p.Val933Ile)
c.2692G>A (p.Val898Ile)
c.2638G>A (p.Val880Ile)
c.2716G>A (p.Val906Ile)
c.2467G>A (p.Val823Ile)
c.2698G>A (p.Val900Ile)
c.1624G>A (p.Val542Ile)
n.2679G>A
1g.151406212A=CA2479570558POGZc.2871T= (p.Asn957=)
c.2664T= (p.Asn888=)
c.2823T= (p.Asn941=)
c.2844T= (p.Asn948=)
n.2971T=
c.2538T= (p.Asn846=)
c.2796T= (p.Asn932=)
c.2691T= (p.Asn897=)
c.2637T= (p.Asn879=)
c.2715T= (p.Asn905=)
c.2466T= (p.Asn822=)
c.2697T= (p.Asn899=)
c.1623T= (p.Asn541=)
n.2678T=
1g.151406212A>CCA341948489POGZc.2871T>G (p.Asn957Lys)
c.2664T>G (p.Asn888Lys)
c.2823T>G (p.Asn941Lys)
c.2844T>G (p.Asn948Lys)
n.2971T>G
c.2538T>G (p.Asn846Lys)
c.2796T>G (p.Asn932Lys)
c.2691T>G (p.Asn897Lys)
c.2637T>G (p.Asn879Lys)
c.2715T>G (p.Asn905Lys)
c.2466T>G (p.Asn822Lys)
c.2697T>G (p.Asn899Lys)
c.1623T>G (p.Asn541Lys)
n.2678T>G
1g.151406212A>GCA420910093POGZc.2871T>C (p.Asn957=)
c.2664T>C (p.Asn888=)
c.2823T>C (p.Asn941=)
c.2844T>C (p.Asn948=)
n.2971T>C
c.2538T>C (p.Asn846=)
c.2796T>C (p.Asn932=)
c.2691T>C (p.Asn897=)
c.2637T>C (p.Asn879=)
c.2715T>C (p.Asn905=)
c.2466T>C (p.Asn822=)
c.2697T>C (p.Asn899=)
c.1623T>C (p.Asn541=)
n.2678T>C
 dbSNP
1g.151406212A>TCA341948491POGZc.2871T>A (p.Asn957Lys)
c.2664T>A (p.Asn888Lys)
c.2823T>A (p.Asn941Lys)
c.2844T>A (p.Asn948Lys)
n.2971T>A
c.2538T>A (p.Asn846Lys)
c.2796T>A (p.Asn932Lys)
c.2691T>A (p.Asn897Lys)
c.2637T>A (p.Asn879Lys)
c.2715T>A (p.Asn905Lys)
c.2466T>A (p.Asn822Lys)
c.2697T>A (p.Asn899Lys)
c.1623T>A (p.Asn541Lys)
n.2678T>A
1g.151406213T>ACA341948501POGZc.2870A>T (p.Asn957Ile)
c.2663A>T (p.Asn888Ile)
c.2822A>T (p.Asn941Ile)
c.2843A>T (p.Asn948Ile)
n.2970A>T
c.2537A>T (p.Asn846Ile)
c.2795A>T (p.Asn932Ile)
c.2690A>T (p.Asn897Ile)
c.2636A>T (p.Asn879Ile)
c.2714A>T (p.Asn905Ile)
c.2465A>T (p.Asn822Ile)
c.2696A>T (p.Asn899Ile)
c.1622A>T (p.Asn541Ile)
n.2677A>T
1g.151406213T>CCA341948510POGZc.2870A>G (p.Asn957Ser)
c.2663A>G (p.Asn888Ser)
c.2822A>G (p.Asn941Ser)
c.2843A>G (p.Asn948Ser)
n.2970A>G
c.2537A>G (p.Asn846Ser)
c.2795A>G (p.Asn932Ser)
c.2690A>G (p.Asn897Ser)
c.2636A>G (p.Asn879Ser)
c.2714A>G (p.Asn905Ser)
c.2465A>G (p.Asn822Ser)
c.2696A>G (p.Asn899Ser)
c.1622A>G (p.Asn541Ser)
n.2677A>G
1g.151406213T>GCA341948497POGZc.2870A>C (p.Asn957Thr)
c.2663A>C (p.Asn888Thr)
c.2822A>C (p.Asn941Thr)
c.2843A>C (p.Asn948Thr)
n.2970A>C
c.2537A>C (p.Asn846Thr)
c.2795A>C (p.Asn932Thr)
c.2690A>C (p.Asn897Thr)
c.2636A>C (p.Asn879Thr)
c.2714A>C (p.Asn905Thr)
c.2465A>C (p.Asn822Thr)
c.2696A>C (p.Asn899Thr)
c.1622A>C (p.Asn541Thr)
n.2677A>C
1g.151406214T>ACA341948516POGZc.2869A>T (p.Asn957Tyr)
c.2662A>T (p.Asn888Tyr)
c.2821A>T (p.Asn941Tyr)
c.2842A>T (p.Asn948Tyr)
n.2969A>T
c.2536A>T (p.Asn846Tyr)
c.2794A>T (p.Asn932Tyr)
c.2689A>T (p.Asn897Tyr)
c.2635A>T (p.Asn879Tyr)
c.2713A>T (p.Asn905Tyr)
c.2464A>T (p.Asn822Tyr)
c.2695A>T (p.Asn899Tyr)
c.1621A>T (p.Asn541Tyr)
n.2676A>T
1g.151406214T>CCA341948525POGZc.2869A>G (p.Asn957Asp)
c.2662A>G (p.Asn888Asp)
c.2821A>G (p.Asn941Asp)
c.2842A>G (p.Asn948Asp)
n.2969A>G
c.2536A>G (p.Asn846Asp)
c.2794A>G (p.Asn932Asp)
c.2689A>G (p.Asn897Asp)
c.2635A>G (p.Asn879Asp)
c.2713A>G (p.Asn905Asp)
c.2464A>G (p.Asn822Asp)
c.2695A>G (p.Asn899Asp)
c.1621A>G (p.Asn541Asp)
n.2676A>G
1g.151406214T>GCA341948520POGZc.2869A>C (p.Asn957His)
c.2662A>C (p.Asn888His)
c.2821A>C (p.Asn941His)
c.2842A>C (p.Asn948His)
n.2969A>C
c.2536A>C (p.Asn846His)
c.2794A>C (p.Asn932His)
c.2689A>C (p.Asn897His)
c.2635A>C (p.Asn879His)
c.2713A>C (p.Asn905His)
c.2464A>C (p.Asn822His)
c.2695A>C (p.Asn899His)
c.1621A>C (p.Asn541His)
n.2676A>C
1g.151406215C>ACA420910096POGZc.2868G>T (p.Leu956=)
c.2661G>T (p.Leu887=)
c.2820G>T (p.Leu940=)
c.2841G>T (p.Leu947=)
n.2968G>T
c.2535G>T (p.Leu845=)
c.2793G>T (p.Leu931=)
c.2688G>T (p.Leu896=)
c.2634G>T (p.Leu878=)
c.2712G>T (p.Leu904=)
c.2463G>T (p.Leu821=)
c.2694G>T (p.Leu898=)
c.1620G>T (p.Leu540=)
n.2675G>T
1g.151406215C=CA2479570559POGZc.2868G= (p.Leu956=)
c.2661G= (p.Leu887=)
c.2820G= (p.Leu940=)
c.2841G= (p.Leu947=)
n.2968G=
c.2535G= (p.Leu845=)
c.2793G= (p.Leu931=)
c.2688G= (p.Leu896=)
c.2634G= (p.Leu878=)
c.2712G= (p.Leu904=)
c.2463G= (p.Leu821=)
c.2694G= (p.Leu898=)
c.1620G= (p.Leu540=)
n.2675G=
1g.151406215C>GCA420910097POGZc.2868G>C (p.Leu956=)
c.2661G>C (p.Leu887=)
c.2820G>C (p.Leu940=)
c.2841G>C (p.Leu947=)
n.2968G>C
c.2535G>C (p.Leu845=)
c.2793G>C (p.Leu931=)
c.2688G>C (p.Leu896=)
c.2634G>C (p.Leu878=)
c.2712G>C (p.Leu904=)
c.2463G>C (p.Leu821=)
c.2694G>C (p.Leu898=)
c.1620G>C (p.Leu540=)
n.2675G>C
1g.151406215C>TCA1091056POGZc.2868G>A (p.Leu956=)
c.2661G>A (p.Leu887=)
c.2820G>A (p.Leu940=)
c.2841G>A (p.Leu947=)
n.2968G>A
c.2535G>A (p.Leu845=)
c.2793G>A (p.Leu931=)
c.2688G>A (p.Leu896=)
c.2634G>A (p.Leu878=)
c.2712G>A (p.Leu904=)
c.2463G>A (p.Leu821=)
c.2694G>A (p.Leu898=)
c.1620G>A (p.Leu540=)
n.2675G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.151406215dupCA2586964171POGZc.2868dup (p.Asn957GlufsTer3)
c.2661dup (p.Asn888GlufsTer3)
c.2820dup (p.Asn941GlufsTer3)
c.2841dup (p.Asn948GlufsTer3)
n.2968dup
c.2535dup (p.Asn846GlufsTer3)
c.2793dup (p.Asn932GlufsTer3)
c.2688dup (p.Asn897GlufsTer3)
c.2634dup (p.Asn879GlufsTer3)
c.2712dup (p.Asn905GlufsTer3)
c.2463dup (p.Asn822GlufsTer3)
c.2694dup (p.Asn899GlufsTer3)
c.1620dup (p.Asn541GlufsTer3)
n.2675dup
1g.151406216A=CA2479570560POGZc.2867T= (p.Leu956=)
c.2660T= (p.Leu887=)
c.2819T= (p.Leu940=)
c.2840T= (p.Leu947=)
n.2967T=
c.2534T= (p.Leu845=)
c.2792T= (p.Leu931=)
c.2687T= (p.Leu896=)
c.2633T= (p.Leu878=)
c.2711T= (p.Leu904=)
c.2462T= (p.Leu821=)
c.2693T= (p.Leu898=)
c.1619T= (p.Leu540=)
n.2674T=
1g.151406216A>CCA341948538POGZc.2867T>G (p.Leu956Arg)
c.2660T>G (p.Leu887Arg)
c.2819T>G (p.Leu940Arg)
c.2840T>G (p.Leu947Arg)
n.2967T>G
c.2534T>G (p.Leu845Arg)
c.2792T>G (p.Leu931Arg)
c.2687T>G (p.Leu896Arg)
c.2633T>G (p.Leu878Arg)
c.2711T>G (p.Leu904Arg)
c.2462T>G (p.Leu821Arg)
c.2693T>G (p.Leu898Arg)
c.1619T>G (p.Leu540Arg)
n.2674T>G
1g.151406216A>GCA341948533POGZc.2867T>C (p.Leu956Pro)
c.2660T>C (p.Leu887Pro)
c.2819T>C (p.Leu940Pro)
c.2840T>C (p.Leu947Pro)
n.2967T>C
c.2534T>C (p.Leu845Pro)
c.2792T>C (p.Leu931Pro)
c.2687T>C (p.Leu896Pro)
c.2633T>C (p.Leu878Pro)
c.2711T>C (p.Leu904Pro)
c.2462T>C (p.Leu821Pro)
c.2693T>C (p.Leu898Pro)
c.1619T>C (p.Leu540Pro)
n.2674T>C
 dbSNP
1g.151406216A>TCA341948536POGZc.2867T>A (p.Leu956Gln)
c.2660T>A (p.Leu887Gln)
c.2819T>A (p.Leu940Gln)
c.2840T>A (p.Leu947Gln)
n.2967T>A
c.2534T>A (p.Leu845Gln)
c.2792T>A (p.Leu931Gln)
c.2687T>A (p.Leu896Gln)
c.2633T>A (p.Leu878Gln)
c.2711T>A (p.Leu904Gln)
c.2462T>A (p.Leu821Gln)
c.2693T>A (p.Leu898Gln)
c.1619T>A (p.Leu540Gln)
n.2674T>A
1g.151406217G>ACA420910103POGZc.2866C>T (p.Leu956=)
c.2659C>T (p.Leu887=)
c.2818C>T (p.Leu940=)
c.2839C>T (p.Leu947=)
n.2966C>T
c.2533C>T (p.Leu845=)
c.2791C>T (p.Leu931=)
c.2686C>T (p.Leu896=)
c.2632C>T (p.Leu878=)
c.2710C>T (p.Leu904=)
c.2461C>T (p.Leu821=)
c.2692C>T (p.Leu898=)
c.1618C>T (p.Leu540=)
n.2673C>T
 gnomAD v4
1g.151406217G>CCA341948545POGZc.2866C>G (p.Leu956Val)
c.2659C>G (p.Leu887Val)
c.2818C>G (p.Leu940Val)
c.2839C>G (p.Leu947Val)
n.2966C>G
c.2533C>G (p.Leu845Val)
c.2791C>G (p.Leu931Val)
c.2686C>G (p.Leu896Val)
c.2632C>G (p.Leu878Val)
c.2710C>G (p.Leu904Val)
c.2461C>G (p.Leu821Val)
c.2692C>G (p.Leu898Val)
c.1618C>G (p.Leu540Val)
n.2673C>G
1g.151406217G>TCA341948549POGZc.2866C>A (p.Leu956Met)
c.2659C>A (p.Leu887Met)
c.2818C>A (p.Leu940Met)
c.2839C>A (p.Leu947Met)
n.2966C>A
c.2533C>A (p.Leu845Met)
c.2791C>A (p.Leu931Met)
c.2686C>A (p.Leu896Met)
c.2632C>A (p.Leu878Met)
c.2710C>A (p.Leu904Met)
c.2461C>A (p.Leu821Met)
c.2692C>A (p.Leu898Met)
c.1618C>A (p.Leu540Met)
n.2673C>A
1g.151406218A>CCA341948553POGZc.2865T>G (p.Cys955Trp)
c.2658T>G (p.Cys886Trp)
c.2817T>G (p.Cys939Trp)
c.2838T>G (p.Cys946Trp)
n.2965T>G
c.2532T>G (p.Cys844Trp)
c.2790T>G (p.Cys930Trp)
c.2685T>G (p.Cys895Trp)
c.2631T>G (p.Cys877Trp)
c.2709T>G (p.Cys903Trp)
c.2460T>G (p.Cys820Trp)
c.2691T>G (p.Cys897Trp)
c.1617T>G (p.Cys539Trp)
n.2672T>G
1g.151406218A>GCA420910106POGZc.2865T>C (p.Cys955=)
c.2658T>C (p.Cys886=)
c.2817T>C (p.Cys939=)
c.2838T>C (p.Cys946=)
n.2965T>C
c.2532T>C (p.Cys844=)
c.2790T>C (p.Cys930=)
c.2685T>C (p.Cys895=)
c.2631T>C (p.Cys877=)
c.2709T>C (p.Cys903=)
c.2460T>C (p.Cys820=)
c.2691T>C (p.Cys897=)
c.1617T>C (p.Cys539=)
n.2672T>C
1g.151406218A>TCA341948556POGZc.2865T>A (p.Cys955Ter)
c.2658T>A (p.Cys886Ter)
c.2817T>A (p.Cys939Ter)
c.2838T>A (p.Cys946Ter)
n.2965T>A
c.2532T>A (p.Cys844Ter)
c.2790T>A (p.Cys930Ter)
c.2685T>A (p.Cys895Ter)
c.2631T>A (p.Cys877Ter)
c.2709T>A (p.Cys903Ter)
c.2460T>A (p.Cys820Ter)
c.2691T>A (p.Cys897Ter)
c.1617T>A (p.Cys539Ter)
n.2672T>A
1g.151406219C>ACA341948563POGZc.2864G>T (p.Cys955Phe)
c.2657G>T (p.Cys886Phe)
c.2816G>T (p.Cys939Phe)
c.2837G>T (p.Cys946Phe)
n.2964G>T
c.2531G>T (p.Cys844Phe)
c.2789G>T (p.Cys930Phe)
c.2684G>T (p.Cys895Phe)
c.2630G>T (p.Cys877Phe)
c.2708G>T (p.Cys903Phe)
c.2459G>T (p.Cys820Phe)
c.2690G>T (p.Cys897Phe)
c.1616G>T (p.Cys539Phe)
n.2671G>T
1g.151406219C>GCA341948566POGZc.2864G>C (p.Cys955Ser)
c.2657G>C (p.Cys886Ser)
c.2816G>C (p.Cys939Ser)
c.2837G>C (p.Cys946Ser)
n.2964G>C
c.2531G>C (p.Cys844Ser)
c.2789G>C (p.Cys930Ser)
c.2684G>C (p.Cys895Ser)
c.2630G>C (p.Cys877Ser)
c.2708G>C (p.Cys903Ser)
c.2459G>C (p.Cys820Ser)
c.2690G>C (p.Cys897Ser)
c.1616G>C (p.Cys539Ser)
n.2671G>C
1g.151406219C>TCA341948576POGZc.2864G>A (p.Cys955Tyr)
c.2657G>A (p.Cys886Tyr)
c.2816G>A (p.Cys939Tyr)
c.2837G>A (p.Cys946Tyr)
n.2964G>A
c.2531G>A (p.Cys844Tyr)
c.2789G>A (p.Cys930Tyr)
c.2684G>A (p.Cys895Tyr)
c.2630G>A (p.Cys877Tyr)
c.2708G>A (p.Cys903Tyr)
c.2459G>A (p.Cys820Tyr)
c.2690G>A (p.Cys897Tyr)
c.1616G>A (p.Cys539Tyr)
n.2671G>A
1g.151406220A>CCA341948578POGZc.2863T>G (p.Cys955Gly)
c.2656T>G (p.Cys886Gly)
c.2815T>G (p.Cys939Gly)
c.2836T>G (p.Cys946Gly)
n.2963T>G
c.2530T>G (p.Cys844Gly)
c.2788T>G (p.Cys930Gly)
c.2683T>G (p.Cys895Gly)
c.2629T>G (p.Cys877Gly)
c.2707T>G (p.Cys903Gly)
c.2458T>G (p.Cys820Gly)
c.2689T>G (p.Cys897Gly)
c.1615T>G (p.Cys539Gly)
n.2670T>G
1g.151406220A>GCA341948580POGZc.2863T>C (p.Cys955Arg)
c.2656T>C (p.Cys886Arg)
c.2815T>C (p.Cys939Arg)
c.2836T>C (p.Cys946Arg)
n.2963T>C
c.2530T>C (p.Cys844Arg)
c.2788T>C (p.Cys930Arg)
c.2683T>C (p.Cys895Arg)
c.2629T>C (p.Cys877Arg)
c.2707T>C (p.Cys903Arg)
c.2458T>C (p.Cys820Arg)
c.2689T>C (p.Cys897Arg)
c.1615T>C (p.Cys539Arg)
n.2670T>C
1g.151406220A>TCA341948581POGZc.2863T>A (p.Cys955Ser)
c.2656T>A (p.Cys886Ser)
c.2815T>A (p.Cys939Ser)
c.2836T>A (p.Cys946Ser)
n.2963T>A
c.2530T>A (p.Cys844Ser)
c.2788T>A (p.Cys930Ser)
c.2683T>A (p.Cys895Ser)
c.2629T>A (p.Cys877Ser)
c.2707T>A (p.Cys903Ser)
c.2458T>A (p.Cys820Ser)
c.2689T>A (p.Cys897Ser)
c.1615T>A (p.Cys539Ser)
n.2670T>A
 gnomAD v4
1g.151406221T>ACA341948590POGZc.2862A>T (p.Glu954Asp)
c.2655A>T (p.Glu885Asp)
c.2814A>T (p.Glu938Asp)
c.2835A>T (p.Glu945Asp)
n.2962A>T
c.2529A>T (p.Glu843Asp)
c.2787A>T (p.Glu929Asp)
c.2682A>T (p.Glu894Asp)
c.2628A>T (p.Glu876Asp)
c.2706A>T (p.Glu902Asp)
c.2457A>T (p.Glu819Asp)
c.2688A>T (p.Glu896Asp)
c.1614A>T (p.Glu538Asp)
n.2669A>T
1g.151406221T>CCA1091057POGZc.2862A>G (p.Glu954=)
c.2655A>G (p.Glu885=)
c.2814A>G (p.Glu938=)
c.2835A>G (p.Glu945=)
n.2962A>G
c.2529A>G (p.Glu843=)
c.2787A>G (p.Glu929=)
c.2682A>G (p.Glu894=)
c.2628A>G (p.Glu876=)
c.2706A>G (p.Glu902=)
c.2457A>G (p.Glu819=)
c.2688A>G (p.Glu896=)
c.1614A>G (p.Glu538=)
n.2669A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406221T>GCA341948586POGZc.2862A>C (p.Glu954Asp)
c.2655A>C (p.Glu885Asp)
c.2814A>C (p.Glu938Asp)
c.2835A>C (p.Glu945Asp)
n.2962A>C
c.2529A>C (p.Glu843Asp)
c.2787A>C (p.Glu929Asp)
c.2682A>C (p.Glu894Asp)
c.2628A>C (p.Glu876Asp)
c.2706A>C (p.Glu902Asp)
c.2457A>C (p.Glu819Asp)
c.2688A>C (p.Glu896Asp)
c.1614A>C (p.Glu538Asp)
n.2669A>C
1g.151406221T=CA2479570561POGZc.2862A= (p.Glu954=)
c.2655A= (p.Glu885=)
c.2814A= (p.Glu938=)
c.2835A= (p.Glu945=)
n.2962A=
c.2529A= (p.Glu843=)
c.2787A= (p.Glu929=)
c.2682A= (p.Glu894=)
c.2628A= (p.Glu876=)
c.2706A= (p.Glu902=)
c.2457A= (p.Glu819=)
c.2688A= (p.Glu896=)
c.1614A= (p.Glu538=)
n.2669A=
1g.151406222T>ACA341948608POGZc.2861A>T (p.Glu954Val)
c.2654A>T (p.Glu885Val)
c.2813A>T (p.Glu938Val)
c.2834A>T (p.Glu945Val)
n.2961A>T
c.2528A>T (p.Glu843Val)
c.2786A>T (p.Glu929Val)
c.2681A>T (p.Glu894Val)
c.2627A>T (p.Glu876Val)
c.2705A>T (p.Glu902Val)
c.2456A>T (p.Glu819Val)
c.2687A>T (p.Glu896Val)
c.1613A>T (p.Glu538Val)
n.2668A>T
1g.151406222T>CCA341948612POGZc.2861A>G (p.Glu954Gly)
c.2654A>G (p.Glu885Gly)
c.2813A>G (p.Glu938Gly)
c.2834A>G (p.Glu945Gly)
n.2961A>G
c.2528A>G (p.Glu843Gly)
c.2786A>G (p.Glu929Gly)
c.2681A>G (p.Glu894Gly)
c.2627A>G (p.Glu876Gly)
c.2705A>G (p.Glu902Gly)
c.2456A>G (p.Glu819Gly)
c.2687A>G (p.Glu896Gly)
c.1613A>G (p.Glu538Gly)
n.2668A>G
1g.151406222T>GCA341948616POGZc.2861A>C (p.Glu954Ala)
c.2654A>C (p.Glu885Ala)
c.2813A>C (p.Glu938Ala)
c.2834A>C (p.Glu945Ala)
n.2961A>C
c.2528A>C (p.Glu843Ala)
c.2786A>C (p.Glu929Ala)
c.2681A>C (p.Glu894Ala)
c.2627A>C (p.Glu876Ala)
c.2705A>C (p.Glu902Ala)
c.2456A>C (p.Glu819Ala)
c.2687A>C (p.Glu896Ala)
c.1613A>C (p.Glu538Ala)
n.2668A>C
1g.151406223C>ACA341948621POGZc.2860G>T (p.Glu954Ter)
c.2653G>T (p.Glu885Ter)
c.2812G>T (p.Glu938Ter)
c.2833G>T (p.Glu945Ter)
n.2960G>T
c.2527G>T (p.Glu843Ter)
c.2785G>T (p.Glu929Ter)
c.2680G>T (p.Glu894Ter)
c.2626G>T (p.Glu876Ter)
c.2704G>T (p.Glu902Ter)
c.2455G>T (p.Glu819Ter)
c.2686G>T (p.Glu896Ter)
c.1612G>T (p.Glu538Ter)
n.2667G>T
1g.151406223C=CA2479570562POGZc.2860G= (p.Glu954=)
c.2653G= (p.Glu885=)
c.2812G= (p.Glu938=)
c.2833G= (p.Glu945=)
n.2960G=
c.2527G= (p.Glu843=)
c.2785G= (p.Glu929=)
c.2680G= (p.Glu894=)
c.2626G= (p.Glu876=)
c.2704G= (p.Glu902=)
c.2455G= (p.Glu819=)
c.2686G= (p.Glu896=)
c.1612G= (p.Glu538=)
n.2667G=
1g.151406223C>GCA341948624POGZc.2860G>C (p.Glu954Gln)
c.2653G>C (p.Glu885Gln)
c.2812G>C (p.Glu938Gln)
c.2833G>C (p.Glu945Gln)
n.2960G>C
c.2527G>C (p.Glu843Gln)
c.2785G>C (p.Glu929Gln)
c.2680G>C (p.Glu894Gln)
c.2626G>C (p.Glu876Gln)
c.2704G>C (p.Glu902Gln)
c.2455G>C (p.Glu819Gln)
c.2686G>C (p.Glu896Gln)
c.1612G>C (p.Glu538Gln)
n.2667G>C
1g.151406223C>TCA29569306POGZc.2860G>A (p.Glu954Lys)
c.2653G>A (p.Glu885Lys)
c.2812G>A (p.Glu938Lys)
c.2833G>A (p.Glu945Lys)
n.2960G>A
c.2527G>A (p.Glu843Lys)
c.2785G>A (p.Glu929Lys)
c.2680G>A (p.Glu894Lys)
c.2626G>A (p.Glu876Lys)
c.2704G>A (p.Glu902Lys)
c.2455G>A (p.Glu819Lys)
c.2686G>A (p.Glu896Lys)
c.1612G>A (p.Glu538Lys)
n.2667G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406224G>ACA1091058POGZc.2859C>T (p.Ala953=)
c.2652C>T (p.Ala884=)
c.2811C>T (p.Ala937=)
c.2832C>T (p.Ala944=)
n.2959C>T
c.2526C>T (p.Ala842=)
c.2784C>T (p.Ala928=)
c.2679C>T (p.Ala893=)
c.2625C>T (p.Ala875=)
c.2703C>T (p.Ala901=)
c.2454C>T (p.Ala818=)
c.2685C>T (p.Ala895=)
c.1611C>T (p.Ala537=)
n.2666C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406224G>CCA420910113POGZc.2859C>G (p.Ala953=)
c.2652C>G (p.Ala884=)
c.2811C>G (p.Ala937=)
c.2832C>G (p.Ala944=)
n.2959C>G
c.2526C>G (p.Ala842=)
c.2784C>G (p.Ala928=)
c.2679C>G (p.Ala893=)
c.2625C>G (p.Ala875=)
c.2703C>G (p.Ala901=)
c.2454C>G (p.Ala818=)
c.2685C>G (p.Ala895=)
c.1611C>G (p.Ala537=)
n.2666C>G
1g.151406224G=CA1143417049POGZc.2859C= (p.Ala953=)
c.2652C= (p.Ala884=)
c.2811C= (p.Ala937=)
c.2832C= (p.Ala944=)
n.2959C=
c.2526C= (p.Ala842=)
c.2784C= (p.Ala928=)
c.2679C= (p.Ala893=)
c.2625C= (p.Ala875=)
c.2703C= (p.Ala901=)
c.2454C= (p.Ala818=)
c.2685C= (p.Ala895=)
c.1611C= (p.Ala537=)
n.2666C=
1g.151406224G>TCA420910114POGZc.2859C>A (p.Ala953=)
c.2652C>A (p.Ala884=)
c.2811C>A (p.Ala937=)
c.2832C>A (p.Ala944=)
n.2959C>A
c.2526C>A (p.Ala842=)
c.2784C>A (p.Ala928=)
c.2679C>A (p.Ala893=)
c.2625C>A (p.Ala875=)
c.2703C>A (p.Ala901=)
c.2454C>A (p.Ala818=)
c.2685C>A (p.Ala895=)
c.1611C>A (p.Ala537=)
n.2666C>A
1g.151406225G>ACA341948640POGZc.2858C>T (p.Ala953Val)
c.2651C>T (p.Ala884Val)
c.2810C>T (p.Ala937Val)
c.2831C>T (p.Ala944Val)
n.2958C>T
c.2525C>T (p.Ala842Val)
c.2783C>T (p.Ala928Val)
c.2678C>T (p.Ala893Val)
c.2624C>T (p.Ala875Val)
c.2702C>T (p.Ala901Val)
c.2453C>T (p.Ala818Val)
c.2684C>T (p.Ala895Val)
c.1610C>T (p.Ala537Val)
n.2665C>T
1g.151406225G>CCA341948643POGZc.2858C>G (p.Ala953Gly)
c.2651C>G (p.Ala884Gly)
c.2810C>G (p.Ala937Gly)
c.2831C>G (p.Ala944Gly)
n.2958C>G
c.2525C>G (p.Ala842Gly)
c.2783C>G (p.Ala928Gly)
c.2678C>G (p.Ala893Gly)
c.2624C>G (p.Ala875Gly)
c.2702C>G (p.Ala901Gly)
c.2453C>G (p.Ala818Gly)
c.2684C>G (p.Ala895Gly)
c.1610C>G (p.Ala537Gly)
n.2665C>G
1g.151406225G>TCA341948651POGZc.2858C>A (p.Ala953Asp)
c.2651C>A (p.Ala884Asp)
c.2810C>A (p.Ala937Asp)
c.2831C>A (p.Ala944Asp)
n.2958C>A
c.2525C>A (p.Ala842Asp)
c.2783C>A (p.Ala928Asp)
c.2678C>A (p.Ala893Asp)
c.2624C>A (p.Ala875Asp)
c.2702C>A (p.Ala901Asp)
c.2453C>A (p.Ala818Asp)
c.2684C>A (p.Ala895Asp)
c.1610C>A (p.Ala537Asp)
n.2665C>A
1g.151406226C>ACA341948656POGZc.2857G>T (p.Ala953Ser)
c.2650G>T (p.Ala884Ser)
c.2809G>T (p.Ala937Ser)
c.2830G>T (p.Ala944Ser)
n.2957G>T
c.2524G>T (p.Ala842Ser)
c.2782G>T (p.Ala928Ser)
c.2677G>T (p.Ala893Ser)
c.2623G>T (p.Ala875Ser)
c.2701G>T (p.Ala901Ser)
c.2452G>T (p.Ala818Ser)
c.2683G>T (p.Ala895Ser)
c.1609G>T (p.Ala537Ser)
n.2664G>T
1g.151406226C>GCA341948660POGZc.2857G>C (p.Ala953Pro)
c.2650G>C (p.Ala884Pro)
c.2809G>C (p.Ala937Pro)
c.2830G>C (p.Ala944Pro)
n.2957G>C
c.2524G>C (p.Ala842Pro)
c.2782G>C (p.Ala928Pro)
c.2677G>C (p.Ala893Pro)
c.2623G>C (p.Ala875Pro)
c.2701G>C (p.Ala901Pro)
c.2452G>C (p.Ala818Pro)
c.2683G>C (p.Ala895Pro)
c.1609G>C (p.Ala537Pro)
n.2664G>C
1g.151406226C>TCA341948663POGZc.2857G>A (p.Ala953Thr)
c.2650G>A (p.Ala884Thr)
c.2809G>A (p.Ala937Thr)
c.2830G>A (p.Ala944Thr)
n.2957G>A
c.2524G>A (p.Ala842Thr)
c.2782G>A (p.Ala928Thr)
c.2677G>A (p.Ala893Thr)
c.2623G>A (p.Ala875Thr)
c.2701G>A (p.Ala901Thr)
c.2452G>A (p.Ala818Thr)
c.2683G>A (p.Ala895Thr)
c.1609G>A (p.Ala537Thr)
n.2664G>A
1g.151406227T>ACA420910123POGZc.2856A>T (p.Gly952=)
c.2649A>T (p.Gly883=)
c.2808A>T (p.Gly936=)
c.2829A>T (p.Gly943=)
n.2956A>T
c.2523A>T (p.Gly841=)
c.2781A>T (p.Gly927=)
c.2676A>T (p.Gly892=)
c.2622A>T (p.Gly874=)
c.2700A>T (p.Gly900=)
c.2451A>T (p.Gly817=)
c.2682A>T (p.Gly894=)
c.1608A>T (p.Gly536=)
n.2663A>T
1g.151406227T>CCA420910122POGZc.2856A>G (p.Gly952=)
c.2649A>G (p.Gly883=)
c.2808A>G (p.Gly936=)
c.2829A>G (p.Gly943=)
n.2956A>G
c.2523A>G (p.Gly841=)
c.2781A>G (p.Gly927=)
c.2676A>G (p.Gly892=)
c.2622A>G (p.Gly874=)
c.2700A>G (p.Gly900=)
c.2451A>G (p.Gly817=)
c.2682A>G (p.Gly894=)
c.1608A>G (p.Gly536=)
n.2663A>G
1g.151406227T>GCA420910121POGZc.2856A>C (p.Gly952=)
c.2649A>C (p.Gly883=)
c.2808A>C (p.Gly936=)
c.2829A>C (p.Gly943=)
n.2956A>C
c.2523A>C (p.Gly841=)
c.2781A>C (p.Gly927=)
c.2676A>C (p.Gly892=)
c.2622A>C (p.Gly874=)
c.2700A>C (p.Gly900=)
c.2451A>C (p.Gly817=)
c.2682A>C (p.Gly894=)
c.1608A>C (p.Gly536=)
n.2663A>C
1g.151406228C>ACA341948674POGZc.2855G>T (p.Gly952Val)
c.2648G>T (p.Gly883Val)
c.2807G>T (p.Gly936Val)
c.2828G>T (p.Gly943Val)
n.2955G>T
c.2522G>T (p.Gly841Val)
c.2780G>T (p.Gly927Val)
c.2675G>T (p.Gly892Val)
c.2621G>T (p.Gly874Val)
c.2699G>T (p.Gly900Val)
c.2450G>T (p.Gly817Val)
c.2681G>T (p.Gly894Val)
c.1607G>T (p.Gly536Val)
n.2662G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406228C=CA2479570563POGZc.2855G= (p.Gly952=)
c.2648G= (p.Gly883=)
c.2807G= (p.Gly936=)
c.2828G= (p.Gly943=)
n.2955G=
c.2522G= (p.Gly841=)
c.2780G= (p.Gly927=)
c.2675G= (p.Gly892=)
c.2621G= (p.Gly874=)
c.2699G= (p.Gly900=)
c.2450G= (p.Gly817=)
c.2681G= (p.Gly894=)
c.1607G= (p.Gly536=)
n.2662G=
1g.151406228C>GCA341948675POGZc.2855G>C (p.Gly952Ala)
c.2648G>C (p.Gly883Ala)
c.2807G>C (p.Gly936Ala)
c.2828G>C (p.Gly943Ala)
n.2955G>C
c.2522G>C (p.Gly841Ala)
c.2780G>C (p.Gly927Ala)
c.2675G>C (p.Gly892Ala)
c.2621G>C (p.Gly874Ala)
c.2699G>C (p.Gly900Ala)
c.2450G>C (p.Gly817Ala)
c.2681G>C (p.Gly894Ala)
c.1607G>C (p.Gly536Ala)
n.2662G>C
1g.151406228C>TCA341948669POGZc.2855G>A (p.Gly952Glu)
c.2648G>A (p.Gly883Glu)
c.2807G>A (p.Gly936Glu)
c.2828G>A (p.Gly943Glu)
n.2955G>A
c.2522G>A (p.Gly841Glu)
c.2780G>A (p.Gly927Glu)
c.2675G>A (p.Gly892Glu)
c.2621G>A (p.Gly874Glu)
c.2699G>A (p.Gly900Glu)
c.2450G>A (p.Gly817Glu)
c.2681G>A (p.Gly894Glu)
c.1607G>A (p.Gly536Glu)
n.2662G>A
1g.151406229C>ACA341948676POGZc.2854G>T (p.Gly952Ter)
c.2647G>T (p.Gly883Ter)
c.2806G>T (p.Gly936Ter)
c.2827G>T (p.Gly943Ter)
n.2954G>T
c.2521G>T (p.Gly841Ter)
c.2779G>T (p.Gly927Ter)
c.2674G>T (p.Gly892Ter)
c.2620G>T (p.Gly874Ter)
c.2698G>T (p.Gly900Ter)
c.2449G>T (p.Gly817Ter)
c.2680G>T (p.Gly894Ter)
c.1606G>T (p.Gly536Ter)
n.2661G>T
 ClinVar
1g.151406229C>GCA341948677POGZc.2854G>C (p.Gly952Arg)
c.2647G>C (p.Gly883Arg)
c.2806G>C (p.Gly936Arg)
c.2827G>C (p.Gly943Arg)
n.2954G>C
c.2521G>C (p.Gly841Arg)
c.2779G>C (p.Gly927Arg)
c.2674G>C (p.Gly892Arg)
c.2620G>C (p.Gly874Arg)
c.2698G>C (p.Gly900Arg)
c.2449G>C (p.Gly817Arg)
c.2680G>C (p.Gly894Arg)
c.1606G>C (p.Gly536Arg)
n.2661G>C
 ClinVar dbSNP
1g.151406229C>TCA341948679POGZc.2854G>A (p.Gly952Arg)
c.2647G>A (p.Gly883Arg)
c.2806G>A (p.Gly936Arg)
c.2827G>A (p.Gly943Arg)
n.2954G>A
c.2521G>A (p.Gly841Arg)
c.2779G>A (p.Gly927Arg)
c.2674G>A (p.Gly892Arg)
c.2620G>A (p.Gly874Arg)
c.2698G>A (p.Gly900Arg)
c.2449G>A (p.Gly817Arg)
c.2680G>A (p.Gly894Arg)
c.1606G>A (p.Gly536Arg)
n.2661G>A
1g.151406230C>ACA341948688POGZc.2853G>T (p.Glu951Asp)
c.2646G>T (p.Glu882Asp)
c.2805G>T (p.Glu935Asp)
c.2826G>T (p.Glu942Asp)
n.2953G>T
c.2520G>T (p.Glu840Asp)
c.2778G>T (p.Glu926Asp)
c.2673G>T (p.Glu891Asp)
c.2619G>T (p.Glu873Asp)
c.2697G>T (p.Glu899Asp)
c.2448G>T (p.Glu816Asp)
c.2679G>T (p.Glu893Asp)
c.1605G>T (p.Glu535Asp)
n.2660G>T
1g.151406230C>GCA341948703POGZc.2853G>C (p.Glu951Asp)
c.2646G>C (p.Glu882Asp)
c.2805G>C (p.Glu935Asp)
c.2826G>C (p.Glu942Asp)
n.2953G>C
c.2520G>C (p.Glu840Asp)
c.2778G>C (p.Glu926Asp)
c.2673G>C (p.Glu891Asp)
c.2619G>C (p.Glu873Asp)
c.2697G>C (p.Glu899Asp)
c.2448G>C (p.Glu816Asp)
c.2679G>C (p.Glu893Asp)
c.1605G>C (p.Glu535Asp)
n.2660G>C
1g.151406230C>TCA420910128POGZc.2853G>A (p.Glu951=)
c.2646G>A (p.Glu882=)
c.2805G>A (p.Glu935=)
c.2826G>A (p.Glu942=)
n.2953G>A
c.2520G>A (p.Glu840=)
c.2778G>A (p.Glu926=)
c.2673G>A (p.Glu891=)
c.2619G>A (p.Glu873=)
c.2697G>A (p.Glu899=)
c.2448G>A (p.Glu816=)
c.2679G>A (p.Glu893=)
c.1605G>A (p.Glu535=)
n.2660G>A
1g.151406231T>ACA341948710POGZc.2852A>T (p.Glu951Val)
c.2645A>T (p.Glu882Val)
c.2804A>T (p.Glu935Val)
c.2825A>T (p.Glu942Val)
n.2952A>T
c.2519A>T (p.Glu840Val)
c.2777A>T (p.Glu926Val)
c.2672A>T (p.Glu891Val)
c.2618A>T (p.Glu873Val)
c.2696A>T (p.Glu899Val)
c.2447A>T (p.Glu816Val)
c.2678A>T (p.Glu893Val)
c.1604A>T (p.Glu535Val)
n.2659A>T
1g.151406231T>CCA341948712POGZc.2852A>G (p.Glu951Gly)
c.2645A>G (p.Glu882Gly)
c.2804A>G (p.Glu935Gly)
c.2825A>G (p.Glu942Gly)
n.2952A>G
c.2519A>G (p.Glu840Gly)
c.2777A>G (p.Glu926Gly)
c.2672A>G (p.Glu891Gly)
c.2618A>G (p.Glu873Gly)
c.2696A>G (p.Glu899Gly)
c.2447A>G (p.Glu816Gly)
c.2678A>G (p.Glu893Gly)
c.1604A>G (p.Glu535Gly)
n.2659A>G
1g.151406231T>GCA341948715POGZc.2852A>C (p.Glu951Ala)
c.2645A>C (p.Glu882Ala)
c.2804A>C (p.Glu935Ala)
c.2825A>C (p.Glu942Ala)
n.2952A>C
c.2519A>C (p.Glu840Ala)
c.2777A>C (p.Glu926Ala)
c.2672A>C (p.Glu891Ala)
c.2618A>C (p.Glu873Ala)
c.2696A>C (p.Glu899Ala)
c.2447A>C (p.Glu816Ala)
c.2678A>C (p.Glu893Ala)
c.1604A>C (p.Glu535Ala)
n.2659A>C
1g.151406232C>ACA341948718POGZc.2851G>T (p.Glu951Ter)
c.2644G>T (p.Glu882Ter)
c.2803G>T (p.Glu935Ter)
c.2824G>T (p.Glu942Ter)
n.2951G>T
c.2518G>T (p.Glu840Ter)
c.2776G>T (p.Glu926Ter)
c.2671G>T (p.Glu891Ter)
c.2617G>T (p.Glu873Ter)
c.2695G>T (p.Glu899Ter)
c.2446G>T (p.Glu816Ter)
c.2677G>T (p.Glu893Ter)
c.1603G>T (p.Glu535Ter)
n.2658G>T
1g.151406232C>GCA341948719POGZc.2851G>C (p.Glu951Gln)
c.2644G>C (p.Glu882Gln)
c.2803G>C (p.Glu935Gln)
c.2824G>C (p.Glu942Gln)
n.2951G>C
c.2518G>C (p.Glu840Gln)
c.2776G>C (p.Glu926Gln)
c.2671G>C (p.Glu891Gln)
c.2617G>C (p.Glu873Gln)
c.2695G>C (p.Glu899Gln)
c.2446G>C (p.Glu816Gln)
c.2677G>C (p.Glu893Gln)
c.1603G>C (p.Glu535Gln)
n.2658G>C
1g.151406232C>TCA341948721POGZc.2851G>A (p.Glu951Lys)
c.2644G>A (p.Glu882Lys)
c.2803G>A (p.Glu935Lys)
c.2824G>A (p.Glu942Lys)
n.2951G>A
c.2518G>A (p.Glu840Lys)
c.2776G>A (p.Glu926Lys)
c.2671G>A (p.Glu891Lys)
c.2617G>A (p.Glu873Lys)
c.2695G>A (p.Glu899Lys)
c.2446G>A (p.Glu816Lys)
c.2677G>A (p.Glu893Lys)
c.1603G>A (p.Glu535Lys)
n.2658G>A
1g.151406233T>ACA420910132POGZc.2850A>T (p.Thr950=)
c.2643A>T (p.Thr881=)
c.2802A>T (p.Thr934=)
c.2823A>T (p.Thr941=)
n.2950A>T
c.2517A>T (p.Thr839=)
c.2775A>T (p.Thr925=)
c.2670A>T (p.Thr890=)
c.2616A>T (p.Thr872=)
c.2694A>T (p.Thr898=)
c.2445A>T (p.Thr815=)
c.2676A>T (p.Thr892=)
c.1602A>T (p.Thr534=)
n.2657A>T
1g.151406233T>CCA420910133POGZc.2850A>G (p.Thr950=)
c.2643A>G (p.Thr881=)
c.2802A>G (p.Thr934=)
c.2823A>G (p.Thr941=)
n.2950A>G
c.2517A>G (p.Thr839=)
c.2775A>G (p.Thr925=)
c.2670A>G (p.Thr890=)
c.2616A>G (p.Thr872=)
c.2694A>G (p.Thr898=)
c.2445A>G (p.Thr815=)
c.2676A>G (p.Thr892=)
c.1602A>G (p.Thr534=)
n.2657A>G
 gnomAD v4
1g.151406233T>GCA420910134POGZc.2850A>C (p.Thr950=)
c.2643A>C (p.Thr881=)
c.2802A>C (p.Thr934=)
c.2823A>C (p.Thr941=)
n.2950A>C
c.2517A>C (p.Thr839=)
c.2775A>C (p.Thr925=)
c.2670A>C (p.Thr890=)
c.2616A>C (p.Thr872=)
c.2694A>C (p.Thr898=)
c.2445A>C (p.Thr815=)
c.2676A>C (p.Thr892=)
c.1602A>C (p.Thr534=)
n.2657A>C
1g.151406234G>ACA341948734POGZc.2849C>T (p.Thr950Ile)
c.2642C>T (p.Thr881Ile)
c.2801C>T (p.Thr934Ile)
c.2822C>T (p.Thr941Ile)
n.2949C>T
c.2516C>T (p.Thr839Ile)
c.2774C>T (p.Thr925Ile)
c.2669C>T (p.Thr890Ile)
c.2615C>T (p.Thr872Ile)
c.2693C>T (p.Thr898Ile)
c.2444C>T (p.Thr815Ile)
c.2675C>T (p.Thr892Ile)
c.1601C>T (p.Thr534Ile)
n.2656C>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406234G>CCA341948731POGZc.2849C>G (p.Thr950Arg)
c.2642C>G (p.Thr881Arg)
c.2801C>G (p.Thr934Arg)
c.2822C>G (p.Thr941Arg)
n.2949C>G
c.2516C>G (p.Thr839Arg)
c.2774C>G (p.Thr925Arg)
c.2669C>G (p.Thr890Arg)
c.2615C>G (p.Thr872Arg)
c.2693C>G (p.Thr898Arg)
c.2444C>G (p.Thr815Arg)
c.2675C>G (p.Thr892Arg)
c.1601C>G (p.Thr534Arg)
n.2656C>G
1g.151406234G=CA2479570564POGZc.2849C= (p.Thr950=)
c.2642C= (p.Thr881=)
c.2801C= (p.Thr934=)
c.2822C= (p.Thr941=)
n.2949C=
c.2516C= (p.Thr839=)
c.2774C= (p.Thr925=)
c.2669C= (p.Thr890=)
c.2615C= (p.Thr872=)
c.2693C= (p.Thr898=)
c.2444C= (p.Thr815=)
c.2675C= (p.Thr892=)
c.1601C= (p.Thr534=)
n.2656C=
1g.151406234G>TCA341948727POGZc.2849C>A (p.Thr950Lys)
c.2642C>A (p.Thr881Lys)
c.2801C>A (p.Thr934Lys)
c.2822C>A (p.Thr941Lys)
n.2949C>A
c.2516C>A (p.Thr839Lys)
c.2774C>A (p.Thr925Lys)
c.2669C>A (p.Thr890Lys)
c.2615C>A (p.Thr872Lys)
c.2693C>A (p.Thr898Lys)
c.2444C>A (p.Thr815Lys)
c.2675C>A (p.Thr892Lys)
c.1601C>A (p.Thr534Lys)
n.2656C>A
1g.151406235T>ACA29569307POGZc.2848A>T (p.Thr950Ser)
c.2641A>T (p.Thr881Ser)
c.2800A>T (p.Thr934Ser)
c.2821A>T (p.Thr941Ser)
n.2948A>T
c.2515A>T (p.Thr839Ser)
c.2773A>T (p.Thr925Ser)
c.2668A>T (p.Thr890Ser)
c.2614A>T (p.Thr872Ser)
c.2692A>T (p.Thr898Ser)
c.2443A>T (p.Thr815Ser)
c.2674A>T (p.Thr892Ser)
c.1600A>T (p.Thr534Ser)
n.2655A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406235T>CCA341948744POGZc.2848A>G (p.Thr950Ala)
c.2641A>G (p.Thr881Ala)
c.2800A>G (p.Thr934Ala)
c.2821A>G (p.Thr941Ala)
n.2948A>G
c.2515A>G (p.Thr839Ala)
c.2773A>G (p.Thr925Ala)
c.2668A>G (p.Thr890Ala)
c.2614A>G (p.Thr872Ala)
c.2692A>G (p.Thr898Ala)
c.2443A>G (p.Thr815Ala)
c.2674A>G (p.Thr892Ala)
c.1600A>G (p.Thr534Ala)
n.2655A>G
1g.151406235T>GCA341948747POGZc.2848A>C (p.Thr950Pro)
c.2641A>C (p.Thr881Pro)
c.2800A>C (p.Thr934Pro)
c.2821A>C (p.Thr941Pro)
n.2948A>C
c.2515A>C (p.Thr839Pro)
c.2773A>C (p.Thr925Pro)
c.2668A>C (p.Thr890Pro)
c.2614A>C (p.Thr872Pro)
c.2692A>C (p.Thr898Pro)
c.2443A>C (p.Thr815Pro)
c.2674A>C (p.Thr892Pro)
c.1600A>C (p.Thr534Pro)
n.2655A>C
1g.151406235T=CA2479570565POGZc.2848A= (p.Thr950=)
c.2641A= (p.Thr881=)
c.2800A= (p.Thr934=)
c.2821A= (p.Thr941=)
n.2948A=
c.2515A= (p.Thr839=)
c.2773A= (p.Thr925=)
c.2668A= (p.Thr890=)
c.2614A= (p.Thr872=)
c.2692A= (p.Thr898=)
c.2443A= (p.Thr815=)
c.2674A= (p.Thr892=)
c.1600A= (p.Thr534=)
n.2655A=
1g.151406236A=CA2479570566POGZc.2847T= (p.Ala949=)
c.2640T= (p.Ala880=)
c.2799T= (p.Ala933=)
c.2820T= (p.Ala940=)
n.2947T=
c.2514T= (p.Ala838=)
c.2772T= (p.Ala924=)
c.2667T= (p.Ala889=)
c.2613T= (p.Ala871=)
c.2691T= (p.Ala897=)
c.2442T= (p.Ala814=)
c.2673T= (p.Ala891=)
c.1599T= (p.Ala533=)
n.2654T=
1g.151406236A>CCA420910138POGZc.2847T>G (p.Ala949=)
c.2640T>G (p.Ala880=)
c.2799T>G (p.Ala933=)
c.2820T>G (p.Ala940=)
n.2947T>G
c.2514T>G (p.Ala838=)
c.2772T>G (p.Ala924=)
c.2667T>G (p.Ala889=)
c.2613T>G (p.Ala871=)
c.2691T>G (p.Ala897=)
c.2442T>G (p.Ala814=)
c.2673T>G (p.Ala891=)
c.1599T>G (p.Ala533=)
n.2654T>G
1g.151406236A>GCA29569308POGZc.2847T>C (p.Ala949=)
c.2640T>C (p.Ala880=)
c.2799T>C (p.Ala933=)
c.2820T>C (p.Ala940=)
n.2947T>C
c.2514T>C (p.Ala838=)
c.2772T>C (p.Ala924=)
c.2667T>C (p.Ala889=)
c.2613T>C (p.Ala871=)
c.2691T>C (p.Ala897=)
c.2442T>C (p.Ala814=)
c.2673T>C (p.Ala891=)
c.1599T>C (p.Ala533=)
n.2654T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406236A>TCA420910139POGZc.2847T>A (p.Ala949=)
c.2640T>A (p.Ala880=)
c.2799T>A (p.Ala933=)
c.2820T>A (p.Ala940=)
n.2947T>A
c.2514T>A (p.Ala838=)
c.2772T>A (p.Ala924=)
c.2667T>A (p.Ala889=)
c.2613T>A (p.Ala871=)
c.2691T>A (p.Ala897=)
c.2442T>A (p.Ala814=)
c.2673T>A (p.Ala891=)
c.1599T>A (p.Ala533=)
n.2654T>A
1g.151406237G>ACA341948752POGZc.2846C>T (p.Ala949Val)
c.2639C>T (p.Ala880Val)
c.2798C>T (p.Ala933Val)
c.2819C>T (p.Ala940Val)
n.2946C>T
c.2513C>T (p.Ala838Val)
c.2771C>T (p.Ala924Val)
c.2666C>T (p.Ala889Val)
c.2612C>T (p.Ala871Val)
c.2690C>T (p.Ala897Val)
c.2441C>T (p.Ala814Val)
c.2672C>T (p.Ala891Val)
c.1598C>T (p.Ala533Val)
n.2653C>T
 gnomAD v4
1g.151406237G>CCA341948757POGZc.2846C>G (p.Ala949Gly)
c.2639C>G (p.Ala880Gly)
c.2798C>G (p.Ala933Gly)
c.2819C>G (p.Ala940Gly)
n.2946C>G
c.2513C>G (p.Ala838Gly)
c.2771C>G (p.Ala924Gly)
c.2666C>G (p.Ala889Gly)
c.2612C>G (p.Ala871Gly)
c.2690C>G (p.Ala897Gly)
c.2441C>G (p.Ala814Gly)
c.2672C>G (p.Ala891Gly)
c.1598C>G (p.Ala533Gly)
n.2653C>G
1g.151406237G>TCA341948759POGZc.2846C>A (p.Ala949Asp)
c.2639C>A (p.Ala880Asp)
c.2798C>A (p.Ala933Asp)
c.2819C>A (p.Ala940Asp)
n.2946C>A
c.2513C>A (p.Ala838Asp)
c.2771C>A (p.Ala924Asp)
c.2666C>A (p.Ala889Asp)
c.2612C>A (p.Ala871Asp)
c.2690C>A (p.Ala897Asp)
c.2441C>A (p.Ala814Asp)
c.2672C>A (p.Ala891Asp)
c.1598C>A (p.Ala533Asp)
n.2653C>A
1g.151406238C>ACA341948762POGZc.2845G>T (p.Ala949Ser)
c.2638G>T (p.Ala880Ser)
c.2797G>T (p.Ala933Ser)
c.2818G>T (p.Ala940Ser)
n.2945G>T
c.2512G>T (p.Ala838Ser)
c.2770G>T (p.Ala924Ser)
c.2665G>T (p.Ala889Ser)
c.2611G>T (p.Ala871Ser)
c.2689G>T (p.Ala897Ser)
c.2440G>T (p.Ala814Ser)
c.2671G>T (p.Ala891Ser)
c.1597G>T (p.Ala533Ser)
n.2652G>T
 gnomAD v4
1g.151406238C>GCA341948766POGZc.2845G>C (p.Ala949Pro)
c.2638G>C (p.Ala880Pro)
c.2797G>C (p.Ala933Pro)
c.2818G>C (p.Ala940Pro)
n.2945G>C
c.2512G>C (p.Ala838Pro)
c.2770G>C (p.Ala924Pro)
c.2665G>C (p.Ala889Pro)
c.2611G>C (p.Ala871Pro)
c.2689G>C (p.Ala897Pro)
c.2440G>C (p.Ala814Pro)
c.2671G>C (p.Ala891Pro)
c.1597G>C (p.Ala533Pro)
n.2652G>C
1g.151406238C>TCA341948777POGZc.2845G>A (p.Ala949Thr)
c.2638G>A (p.Ala880Thr)
c.2797G>A (p.Ala933Thr)
c.2818G>A (p.Ala940Thr)
n.2945G>A
c.2512G>A (p.Ala838Thr)
c.2770G>A (p.Ala924Thr)
c.2665G>A (p.Ala889Thr)
c.2611G>A (p.Ala871Thr)
c.2689G>A (p.Ala897Thr)
c.2440G>A (p.Ala814Thr)
c.2671G>A (p.Ala891Thr)
c.1597G>A (p.Ala533Thr)
n.2652G>A
1g.151406239C>ACA420910143POGZc.2844G>T (p.Leu948=)
c.2637G>T (p.Leu879=)
c.2796G>T (p.Leu932=)
c.2817G>T (p.Leu939=)
n.2944G>T
c.2511G>T (p.Leu837=)
c.2769G>T (p.Leu923=)
c.2664G>T (p.Leu888=)
c.2610G>T (p.Leu870=)
c.2688G>T (p.Leu896=)
c.2439G>T (p.Leu813=)
c.2670G>T (p.Leu890=)
c.1596G>T (p.Leu532=)
n.2651G>T
 gnomAD v4
1g.151406239C=CA2479570567POGZc.2844G= (p.Leu948=)
c.2637G= (p.Leu879=)
c.2796G= (p.Leu932=)
c.2817G= (p.Leu939=)
n.2944G=
c.2511G= (p.Leu837=)
c.2769G= (p.Leu923=)
c.2664G= (p.Leu888=)
c.2610G= (p.Leu870=)
c.2688G= (p.Leu896=)
c.2439G= (p.Leu813=)
c.2670G= (p.Leu890=)
c.1596G= (p.Leu532=)
n.2651G=
1g.151406239C>GCA420910144POGZc.2844G>C (p.Leu948=)
c.2637G>C (p.Leu879=)
c.2796G>C (p.Leu932=)
c.2817G>C (p.Leu939=)
n.2944G>C
c.2511G>C (p.Leu837=)
c.2769G>C (p.Leu923=)
c.2664G>C (p.Leu888=)
c.2610G>C (p.Leu870=)
c.2688G>C (p.Leu896=)
c.2439G>C (p.Leu813=)
c.2670G>C (p.Leu890=)
c.1596G>C (p.Leu532=)
n.2651G>C
1g.151406239C>TCA420910145POGZc.2844G>A (p.Leu948=)
c.2637G>A (p.Leu879=)
c.2796G>A (p.Leu932=)
c.2817G>A (p.Leu939=)
n.2944G>A
c.2511G>A (p.Leu837=)
c.2769G>A (p.Leu923=)
c.2664G>A (p.Leu888=)
c.2610G>A (p.Leu870=)
c.2688G>A (p.Leu896=)
c.2439G>A (p.Leu813=)
c.2670G>A (p.Leu890=)
c.1596G>A (p.Leu532=)
n.2651G>A
 dbSNP
1g.151406240A>CCA341948781POGZc.2843T>G (p.Leu948Arg)
c.2636T>G (p.Leu879Arg)
c.2795T>G (p.Leu932Arg)
c.2816T>G (p.Leu939Arg)
n.2943T>G
c.2510T>G (p.Leu837Arg)
c.2768T>G (p.Leu923Arg)
c.2663T>G (p.Leu888Arg)
c.2609T>G (p.Leu870Arg)
c.2687T>G (p.Leu896Arg)
c.2438T>G (p.Leu813Arg)
c.2669T>G (p.Leu890Arg)
c.1595T>G (p.Leu532Arg)
n.2650T>G
1g.151406240A>GCA341948785POGZc.2843T>C (p.Leu948Pro)
c.2636T>C (p.Leu879Pro)
c.2795T>C (p.Leu932Pro)
c.2816T>C (p.Leu939Pro)
n.2943T>C
c.2510T>C (p.Leu837Pro)
c.2768T>C (p.Leu923Pro)
c.2663T>C (p.Leu888Pro)
c.2609T>C (p.Leu870Pro)
c.2687T>C (p.Leu896Pro)
c.2438T>C (p.Leu813Pro)
c.2669T>C (p.Leu890Pro)
c.1595T>C (p.Leu532Pro)
n.2650T>C
1g.151406240A>TCA341948788POGZc.2843T>A (p.Leu948Gln)
c.2636T>A (p.Leu879Gln)
c.2795T>A (p.Leu932Gln)
c.2816T>A (p.Leu939Gln)
n.2943T>A
c.2510T>A (p.Leu837Gln)
c.2768T>A (p.Leu923Gln)
c.2663T>A (p.Leu888Gln)
c.2609T>A (p.Leu870Gln)
c.2687T>A (p.Leu896Gln)
c.2438T>A (p.Leu813Gln)
c.2669T>A (p.Leu890Gln)
c.1595T>A (p.Leu532Gln)
n.2650T>A
1g.151406241G>ACA420910146POGZc.2842C>T (p.Leu948=)
c.2635C>T (p.Leu879=)
c.2794C>T (p.Leu932=)
c.2815C>T (p.Leu939=)
n.2942C>T
c.2509C>T (p.Leu837=)
c.2767C>T (p.Leu923=)
c.2662C>T (p.Leu888=)
c.2608C>T (p.Leu870=)
c.2686C>T (p.Leu896=)
c.2437C>T (p.Leu813=)
c.2668C>T (p.Leu890=)
c.1594C>T (p.Leu532=)
n.2649C>T
1g.151406241G>CCA341948799POGZc.2842C>G (p.Leu948Val)
c.2635C>G (p.Leu879Val)
c.2794C>G (p.Leu932Val)
c.2815C>G (p.Leu939Val)
n.2942C>G
c.2509C>G (p.Leu837Val)
c.2767C>G (p.Leu923Val)
c.2662C>G (p.Leu888Val)
c.2608C>G (p.Leu870Val)
c.2686C>G (p.Leu896Val)
c.2437C>G (p.Leu813Val)
c.2668C>G (p.Leu890Val)
c.1594C>G (p.Leu532Val)
n.2649C>G
1g.151406241G>TCA341948797POGZc.2842C>A (p.Leu948Met)
c.2635C>A (p.Leu879Met)
c.2794C>A (p.Leu932Met)
c.2815C>A (p.Leu939Met)
n.2942C>A
c.2509C>A (p.Leu837Met)
c.2767C>A (p.Leu923Met)
c.2662C>A (p.Leu888Met)
c.2608C>A (p.Leu870Met)
c.2686C>A (p.Leu896Met)
c.2437C>A (p.Leu813Met)
c.2668C>A (p.Leu890Met)
c.1594C>A (p.Leu532Met)
n.2649C>A
1g.151406242C>ACA420910149POGZc.2841G>T (p.Pro947=)
c.2634G>T (p.Pro878=)
c.2793G>T (p.Pro931=)
c.2814G>T (p.Pro938=)
n.2941G>T
c.2508G>T (p.Pro836=)
c.2766G>T (p.Pro922=)
c.2661G>T (p.Pro887=)
c.2607G>T (p.Pro869=)
c.2685G>T (p.Pro895=)
c.2436G>T (p.Pro812=)
c.2667G>T (p.Pro889=)
c.1593G>T (p.Pro531=)
n.2648G>T
 gnomAD v4
1g.151406242C=CA2479570568POGZc.2841G= (p.Pro947=)
c.2634G= (p.Pro878=)
c.2793G= (p.Pro931=)
c.2814G= (p.Pro938=)
n.2941G=
c.2508G= (p.Pro836=)
c.2766G= (p.Pro922=)
c.2661G= (p.Pro887=)
c.2607G= (p.Pro869=)
c.2685G= (p.Pro895=)
c.2436G= (p.Pro812=)
c.2667G= (p.Pro889=)
c.1593G= (p.Pro531=)
n.2648G=
1g.151406242C>GCA420910147POGZc.2841G>C (p.Pro947=)
c.2634G>C (p.Pro878=)
c.2793G>C (p.Pro931=)
c.2814G>C (p.Pro938=)
n.2941G>C
c.2508G>C (p.Pro836=)
c.2766G>C (p.Pro922=)
c.2661G>C (p.Pro887=)
c.2607G>C (p.Pro869=)
c.2685G>C (p.Pro895=)
c.2436G>C (p.Pro812=)
c.2667G>C (p.Pro889=)
c.1593G>C (p.Pro531=)
n.2648G>C
1g.151406242C>TCA1091059POGZc.2841G>A (p.Pro947=)
c.2634G>A (p.Pro878=)
c.2793G>A (p.Pro931=)
c.2814G>A (p.Pro938=)
n.2941G>A
c.2508G>A (p.Pro836=)
c.2766G>A (p.Pro922=)
c.2661G>A (p.Pro887=)
c.2607G>A (p.Pro869=)
c.2685G>A (p.Pro895=)
c.2436G>A (p.Pro812=)
c.2667G>A (p.Pro889=)
c.1593G>A (p.Pro531=)
n.2648G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.151406243G>ACA1091060POGZc.2840C>T (p.Pro947Leu)
c.2633C>T (p.Pro878Leu)
c.2792C>T (p.Pro931Leu)
c.2813C>T (p.Pro938Leu)
n.2940C>T
c.2507C>T (p.Pro836Leu)
c.2765C>T (p.Pro922Leu)
c.2660C>T (p.Pro887Leu)
c.2606C>T (p.Pro869Leu)
c.2684C>T (p.Pro895Leu)
c.2435C>T (p.Pro812Leu)
c.2666C>T (p.Pro889Leu)
c.1592C>T (p.Pro531Leu)
n.2647C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406243G>CCA341948812POGZc.2840C>G (p.Pro947Arg)
c.2633C>G (p.Pro878Arg)
c.2792C>G (p.Pro931Arg)
c.2813C>G (p.Pro938Arg)
n.2940C>G
c.2507C>G (p.Pro836Arg)
c.2765C>G (p.Pro922Arg)
c.2660C>G (p.Pro887Arg)
c.2606C>G (p.Pro869Arg)
c.2684C>G (p.Pro895Arg)
c.2435C>G (p.Pro812Arg)
c.2666C>G (p.Pro889Arg)
c.1592C>G (p.Pro531Arg)
n.2647C>G
1g.151406243G=CA1143951554POGZc.2840C= (p.Pro947=)
c.2633C= (p.Pro878=)
c.2792C= (p.Pro931=)
c.2813C= (p.Pro938=)
n.2940C=
c.2507C= (p.Pro836=)
c.2765C= (p.Pro922=)
c.2660C= (p.Pro887=)
c.2606C= (p.Pro869=)
c.2684C= (p.Pro895=)
c.2435C= (p.Pro812=)
c.2666C= (p.Pro889=)
c.1592C= (p.Pro531=)
n.2647C=
1g.151406243G>TCA341948816POGZc.2840C>A (p.Pro947Gln)
c.2633C>A (p.Pro878Gln)
c.2792C>A (p.Pro931Gln)
c.2813C>A (p.Pro938Gln)
n.2940C>A
c.2507C>A (p.Pro836Gln)
c.2765C>A (p.Pro922Gln)
c.2660C>A (p.Pro887Gln)
c.2606C>A (p.Pro869Gln)
c.2684C>A (p.Pro895Gln)
c.2435C>A (p.Pro812Gln)
c.2666C>A (p.Pro889Gln)
c.1592C>A (p.Pro531Gln)
n.2647C>A
1g.151406244G>ACA341948820POGZc.2839C>T (p.Pro947Ser)
c.2632C>T (p.Pro878Ser)
c.2791C>T (p.Pro931Ser)
c.2812C>T (p.Pro938Ser)
n.2939C>T
c.2506C>T (p.Pro836Ser)
c.2764C>T (p.Pro922Ser)
c.2659C>T (p.Pro887Ser)
c.2605C>T (p.Pro869Ser)
c.2683C>T (p.Pro895Ser)
c.2434C>T (p.Pro812Ser)
c.2665C>T (p.Pro889Ser)
c.1591C>T (p.Pro531Ser)
n.2646C>T
1g.151406244G>CCA341948823POGZc.2839C>G (p.Pro947Ala)
c.2632C>G (p.Pro878Ala)
c.2791C>G (p.Pro931Ala)
c.2812C>G (p.Pro938Ala)
n.2939C>G
c.2506C>G (p.Pro836Ala)
c.2764C>G (p.Pro922Ala)
c.2659C>G (p.Pro887Ala)
c.2605C>G (p.Pro869Ala)
c.2683C>G (p.Pro895Ala)
c.2434C>G (p.Pro812Ala)
c.2665C>G (p.Pro889Ala)
c.1591C>G (p.Pro531Ala)
n.2646C>G
 gnomAD v4
1g.151406244G>TCA341948826POGZc.2839C>A (p.Pro947Thr)
c.2632C>A (p.Pro878Thr)
c.2791C>A (p.Pro931Thr)
c.2812C>A (p.Pro938Thr)
n.2939C>A
c.2506C>A (p.Pro836Thr)
c.2764C>A (p.Pro922Thr)
c.2659C>A (p.Pro887Thr)
c.2605C>A (p.Pro869Thr)
c.2683C>A (p.Pro895Thr)
c.2434C>A (p.Pro812Thr)
c.2665C>A (p.Pro889Thr)
c.1591C>A (p.Pro531Thr)
n.2646C>A
1g.151406245T>ACA420910156POGZc.2838A>T (p.Pro946=)
c.2631A>T (p.Pro877=)
c.2790A>T (p.Pro930=)
c.2811A>T (p.Pro937=)
n.2938A>T
c.2505A>T (p.Pro835=)
c.2763A>T (p.Pro921=)
c.2658A>T (p.Pro886=)
c.2604A>T (p.Pro868=)
c.2682A>T (p.Pro894=)
c.2433A>T (p.Pro811=)
c.2664A>T (p.Pro888=)
c.1590A>T (p.Pro530=)
n.2645A>T
 gnomAD v4
1g.151406245T>CCA420910157POGZc.2838A>G (p.Pro946=)
c.2631A>G (p.Pro877=)
c.2790A>G (p.Pro930=)
c.2811A>G (p.Pro937=)
n.2938A>G
c.2505A>G (p.Pro835=)
c.2763A>G (p.Pro921=)
c.2658A>G (p.Pro886=)
c.2604A>G (p.Pro868=)
c.2682A>G (p.Pro894=)
c.2433A>G (p.Pro811=)
c.2664A>G (p.Pro888=)
c.1590A>G (p.Pro530=)
n.2645A>G
1g.151406245T>GCA420910159POGZc.2838A>C (p.Pro946=)
c.2631A>C (p.Pro877=)
c.2790A>C (p.Pro930=)
c.2811A>C (p.Pro937=)
n.2938A>C
c.2505A>C (p.Pro835=)
c.2763A>C (p.Pro921=)
c.2658A>C (p.Pro886=)
c.2604A>C (p.Pro868=)
c.2682A>C (p.Pro894=)
c.2433A>C (p.Pro811=)
c.2664A>C (p.Pro888=)
c.1590A>C (p.Pro530=)
n.2645A>C
 dbSNP
1g.151406245T=CA2479570569POGZc.2838A= (p.Pro946=)
c.2631A= (p.Pro877=)
c.2790A= (p.Pro930=)
c.2811A= (p.Pro937=)
n.2938A=
c.2505A= (p.Pro835=)
c.2763A= (p.Pro921=)
c.2658A= (p.Pro886=)
c.2604A= (p.Pro868=)
c.2682A= (p.Pro894=)
c.2433A= (p.Pro811=)
c.2664A= (p.Pro888=)
c.1590A= (p.Pro530=)
n.2645A=
1g.151406246G>ACA1091062POGZc.2837C>T (p.Pro946Leu)
c.2630C>T (p.Pro877Leu)
c.2789C>T (p.Pro930Leu)
c.2810C>T (p.Pro937Leu)
n.2937C>T
c.2504C>T (p.Pro835Leu)
c.2762C>T (p.Pro921Leu)
c.2657C>T (p.Pro886Leu)
c.2603C>T (p.Pro868Leu)
c.2681C>T (p.Pro894Leu)
c.2432C>T (p.Pro811Leu)
c.2663C>T (p.Pro888Leu)
c.1589C>T (p.Pro530Leu)
n.2644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406246G>CCA1091061POGZc.2837C>G (p.Pro946Arg)
c.2630C>G (p.Pro877Arg)
c.2789C>G (p.Pro930Arg)
c.2810C>G (p.Pro937Arg)
n.2937C>G
c.2504C>G (p.Pro835Arg)
c.2762C>G (p.Pro921Arg)
c.2657C>G (p.Pro886Arg)
c.2603C>G (p.Pro868Arg)
c.2681C>G (p.Pro894Arg)
c.2432C>G (p.Pro811Arg)
c.2663C>G (p.Pro888Arg)
c.1589C>G (p.Pro530Arg)
n.2644C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406246G=CA1142061475POGZc.2837C= (p.Pro946=)
c.2630C= (p.Pro877=)
c.2789C= (p.Pro930=)
c.2810C= (p.Pro937=)
n.2937C=
c.2504C= (p.Pro835=)
c.2762C= (p.Pro921=)
c.2657C= (p.Pro886=)
c.2603C= (p.Pro868=)
c.2681C= (p.Pro894=)
c.2432C= (p.Pro811=)
c.2663C= (p.Pro888=)
c.1589C= (p.Pro530=)
n.2644C=
1g.151406246G>TCA341948837POGZc.2837C>A (p.Pro946Gln)
c.2630C>A (p.Pro877Gln)
c.2789C>A (p.Pro930Gln)
c.2810C>A (p.Pro937Gln)
n.2937C>A
c.2504C>A (p.Pro835Gln)
c.2762C>A (p.Pro921Gln)
c.2657C>A (p.Pro886Gln)
c.2603C>A (p.Pro868Gln)
c.2681C>A (p.Pro894Gln)
c.2432C>A (p.Pro811Gln)
c.2663C>A (p.Pro888Gln)
c.1589C>A (p.Pro530Gln)
n.2644C>A
1g.151406247G>ACA341948839POGZc.2836C>T (p.Pro946Ser)
c.2629C>T (p.Pro877Ser)
c.2788C>T (p.Pro930Ser)
c.2809C>T (p.Pro937Ser)
n.2936C>T
c.2503C>T (p.Pro835Ser)
c.2761C>T (p.Pro921Ser)
c.2656C>T (p.Pro886Ser)
c.2602C>T (p.Pro868Ser)
c.2680C>T (p.Pro894Ser)
c.2431C>T (p.Pro811Ser)
c.2662C>T (p.Pro888Ser)
c.1588C>T (p.Pro530Ser)
n.2643C>T
1g.151406247G>CCA341948842POGZc.2836C>G (p.Pro946Ala)
c.2629C>G (p.Pro877Ala)
c.2788C>G (p.Pro930Ala)
c.2809C>G (p.Pro937Ala)
n.2936C>G
c.2503C>G (p.Pro835Ala)
c.2761C>G (p.Pro921Ala)
c.2656C>G (p.Pro886Ala)
c.2602C>G (p.Pro868Ala)
c.2680C>G (p.Pro894Ala)
c.2431C>G (p.Pro811Ala)
c.2662C>G (p.Pro888Ala)
c.1588C>G (p.Pro530Ala)
n.2643C>G
1g.151406247G>TCA341948844POGZc.2836C>A (p.Pro946Thr)
c.2629C>A (p.Pro877Thr)
c.2788C>A (p.Pro930Thr)
c.2809C>A (p.Pro937Thr)
n.2936C>A
c.2503C>A (p.Pro835Thr)
c.2761C>A (p.Pro921Thr)
c.2656C>A (p.Pro886Thr)
c.2602C>A (p.Pro868Thr)
c.2680C>A (p.Pro894Thr)
c.2431C>A (p.Pro811Thr)
c.2662C>A (p.Pro888Thr)
c.1588C>A (p.Pro530Thr)
n.2643C>A
1g.151406248A>CCA420910165POGZc.2835T>G (p.Leu945=)
c.2628T>G (p.Leu876=)
c.2787T>G (p.Leu929=)
c.2808T>G (p.Leu936=)
n.2935T>G
c.2502T>G (p.Leu834=)
c.2760T>G (p.Leu920=)
c.2655T>G (p.Leu885=)
c.2601T>G (p.Leu867=)
c.2679T>G (p.Leu893=)
c.2430T>G (p.Leu810=)
c.2661T>G (p.Leu887=)
c.1587T>G (p.Leu529=)
n.2642T>G
1g.151406248A>GCA420910166POGZc.2835T>C (p.Leu945=)
c.2628T>C (p.Leu876=)
c.2787T>C (p.Leu929=)
c.2808T>C (p.Leu936=)
n.2935T>C
c.2502T>C (p.Leu834=)
c.2760T>C (p.Leu920=)
c.2655T>C (p.Leu885=)
c.2601T>C (p.Leu867=)
c.2679T>C (p.Leu893=)
c.2430T>C (p.Leu810=)
c.2661T>C (p.Leu887=)
c.1587T>C (p.Leu529=)
n.2642T>C
1g.151406248A>TCA420910168POGZc.2835T>A (p.Leu945=)
c.2628T>A (p.Leu876=)
c.2787T>A (p.Leu929=)
c.2808T>A (p.Leu936=)
n.2935T>A
c.2502T>A (p.Leu834=)
c.2760T>A (p.Leu920=)
c.2655T>A (p.Leu885=)
c.2601T>A (p.Leu867=)
c.2679T>A (p.Leu893=)
c.2430T>A (p.Leu810=)
c.2661T>A (p.Leu887=)
c.1587T>A (p.Leu529=)
n.2642T>A
1g.151406249A=CA2479570570POGZc.2834T= (p.Leu945=)
c.2627T= (p.Leu876=)
c.2786T= (p.Leu929=)
c.2807T= (p.Leu936=)
n.2934T=
c.2501T= (p.Leu834=)
c.2759T= (p.Leu920=)
c.2654T= (p.Leu885=)
c.2600T= (p.Leu867=)
c.2678T= (p.Leu893=)
c.2429T= (p.Leu810=)
c.2660T= (p.Leu887=)
c.1586T= (p.Leu529=)
n.2641T=
1g.151406249A>CCA341948850POGZc.2834T>G (p.Leu945Arg)
c.2627T>G (p.Leu876Arg)
c.2786T>G (p.Leu929Arg)
c.2807T>G (p.Leu936Arg)
n.2934T>G
c.2501T>G (p.Leu834Arg)
c.2759T>G (p.Leu920Arg)
c.2654T>G (p.Leu885Arg)
c.2600T>G (p.Leu867Arg)
c.2678T>G (p.Leu893Arg)
c.2429T>G (p.Leu810Arg)
c.2660T>G (p.Leu887Arg)
c.1586T>G (p.Leu529Arg)
n.2641T>G
1g.151406249A>GCA341948845POGZc.2834T>C (p.Leu945Pro)
c.2627T>C (p.Leu876Pro)
c.2786T>C (p.Leu929Pro)
c.2807T>C (p.Leu936Pro)
n.2934T>C
c.2501T>C (p.Leu834Pro)
c.2759T>C (p.Leu920Pro)
c.2654T>C (p.Leu885Pro)
c.2600T>C (p.Leu867Pro)
c.2678T>C (p.Leu893Pro)
c.2429T>C (p.Leu810Pro)
c.2660T>C (p.Leu887Pro)
c.1586T>C (p.Leu529Pro)
n.2641T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406249A>TCA341948848POGZc.2834T>A (p.Leu945His)
c.2627T>A (p.Leu876His)
c.2786T>A (p.Leu929His)
c.2807T>A (p.Leu936His)
n.2934T>A
c.2501T>A (p.Leu834His)
c.2759T>A (p.Leu920His)
c.2654T>A (p.Leu885His)
c.2600T>A (p.Leu867His)
c.2678T>A (p.Leu893His)
c.2429T>A (p.Leu810His)
c.2660T>A (p.Leu887His)
c.1586T>A (p.Leu529His)
n.2641T>A
1g.151406250G>ACA341948854POGZc.2833C>T (p.Leu945Phe)
c.2626C>T (p.Leu876Phe)
c.2785C>T (p.Leu929Phe)
c.2806C>T (p.Leu936Phe)
n.2933C>T
c.2500C>T (p.Leu834Phe)
c.2758C>T (p.Leu920Phe)
c.2653C>T (p.Leu885Phe)
c.2599C>T (p.Leu867Phe)
c.2677C>T (p.Leu893Phe)
c.2428C>T (p.Leu810Phe)
c.2659C>T (p.Leu887Phe)
c.1585C>T (p.Leu529Phe)
n.2640C>T
 dbSNP gnomAD v2 gnomAD v4
1g.151406250G>CCA341948855POGZc.2833C>G (p.Leu945Val)
c.2626C>G (p.Leu876Val)
c.2785C>G (p.Leu929Val)
c.2806C>G (p.Leu936Val)
n.2933C>G
c.2500C>G (p.Leu834Val)
c.2758C>G (p.Leu920Val)
c.2653C>G (p.Leu885Val)
c.2599C>G (p.Leu867Val)
c.2677C>G (p.Leu893Val)
c.2428C>G (p.Leu810Val)
c.2659C>G (p.Leu887Val)
c.1585C>G (p.Leu529Val)
n.2640C>G
1g.151406250G=CA2479570571POGZc.2833C= (p.Leu945=)
c.2626C= (p.Leu876=)
c.2785C= (p.Leu929=)
c.2806C= (p.Leu936=)
n.2933C=
c.2500C= (p.Leu834=)
c.2758C= (p.Leu920=)
c.2653C= (p.Leu885=)
c.2599C= (p.Leu867=)
c.2677C= (p.Leu893=)
c.2428C= (p.Leu810=)
c.2659C= (p.Leu887=)
c.1585C= (p.Leu529=)
n.2640C=
1g.151406250G>TCA341948859POGZc.2833C>A (p.Leu945Ile)
c.2626C>A (p.Leu876Ile)
c.2785C>A (p.Leu929Ile)
c.2806C>A (p.Leu936Ile)
n.2933C>A
c.2500C>A (p.Leu834Ile)
c.2758C>A (p.Leu920Ile)
c.2653C>A (p.Leu885Ile)
c.2599C>A (p.Leu867Ile)
c.2677C>A (p.Leu893Ile)
c.2428C>A (p.Leu810Ile)
c.2659C>A (p.Leu887Ile)
c.1585C>A (p.Leu529Ile)
n.2640C>A
1g.151406251G>ACA420910175POGZc.2832C>T (p.Ala944=)
c.2625C>T (p.Ala875=)
c.2784C>T (p.Ala928=)
c.2805C>T (p.Ala935=)
n.2932C>T
c.2499C>T (p.Ala833=)
c.2757C>T (p.Ala919=)
c.2652C>T (p.Ala884=)
c.2598C>T (p.Ala866=)
c.2676C>T (p.Ala892=)
c.2427C>T (p.Ala809=)
c.2658C>T (p.Ala886=)
c.1584C>T (p.Ala528=)
n.2639C>T
 gnomAD v4
1g.151406251G>CCA420910176POGZc.2832C>G (p.Ala944=)
c.2625C>G (p.Ala875=)
c.2784C>G (p.Ala928=)
c.2805C>G (p.Ala935=)
n.2932C>G
c.2499C>G (p.Ala833=)
c.2757C>G (p.Ala919=)
c.2652C>G (p.Ala884=)
c.2598C>G (p.Ala866=)
c.2676C>G (p.Ala892=)
c.2427C>G (p.Ala809=)
c.2658C>G (p.Ala886=)
c.1584C>G (p.Ala528=)
n.2639C>G
1g.151406251G>TCA420910177POGZc.2832C>A (p.Ala944=)
c.2625C>A (p.Ala875=)
c.2784C>A (p.Ala928=)
c.2805C>A (p.Ala935=)
n.2932C>A
c.2499C>A (p.Ala833=)
c.2757C>A (p.Ala919=)
c.2652C>A (p.Ala884=)
c.2598C>A (p.Ala866=)
c.2676C>A (p.Ala892=)
c.2427C>A (p.Ala809=)
c.2658C>A (p.Ala886=)
c.1584C>A (p.Ala528=)
n.2639C>A
1g.151406252G>ACA341948864POGZc.2831C>T (p.Ala944Val)
c.2624C>T (p.Ala875Val)
c.2783C>T (p.Ala928Val)
c.2804C>T (p.Ala935Val)
n.2931C>T
c.2498C>T (p.Ala833Val)
c.2756C>T (p.Ala919Val)
c.2651C>T (p.Ala884Val)
c.2597C>T (p.Ala866Val)
c.2675C>T (p.Ala892Val)
c.2426C>T (p.Ala809Val)
c.2657C>T (p.Ala886Val)
c.1583C>T (p.Ala528Val)
n.2638C>T
1g.151406252G>CCA341948867POGZc.2831C>G (p.Ala944Gly)
c.2624C>G (p.Ala875Gly)
c.2783C>G (p.Ala928Gly)
c.2804C>G (p.Ala935Gly)
n.2931C>G
c.2498C>G (p.Ala833Gly)
c.2756C>G (p.Ala919Gly)
c.2651C>G (p.Ala884Gly)
c.2597C>G (p.Ala866Gly)
c.2675C>G (p.Ala892Gly)
c.2426C>G (p.Ala809Gly)
c.2657C>G (p.Ala886Gly)
c.1583C>G (p.Ala528Gly)
n.2638C>G
1g.151406252G=CA2479570572POGZc.2831C= (p.Ala944=)
c.2624C= (p.Ala875=)
c.2783C= (p.Ala928=)
c.2804C= (p.Ala935=)
n.2931C=
c.2498C= (p.Ala833=)
c.2756C= (p.Ala919=)
c.2651C= (p.Ala884=)
c.2597C= (p.Ala866=)
c.2675C= (p.Ala892=)
c.2426C= (p.Ala809=)
c.2657C= (p.Ala886=)
c.1583C= (p.Ala528=)
n.2638C=
1g.151406252G>TCA29569346POGZc.2831C>A (p.Ala944Asp)
c.2624C>A (p.Ala875Asp)
c.2783C>A (p.Ala928Asp)
c.2804C>A (p.Ala935Asp)
n.2931C>A
c.2498C>A (p.Ala833Asp)
c.2756C>A (p.Ala919Asp)
c.2651C>A (p.Ala884Asp)
c.2597C>A (p.Ala866Asp)
c.2675C>A (p.Ala892Asp)
c.2426C>A (p.Ala809Asp)
c.2657C>A (p.Ala886Asp)
c.1583C>A (p.Ala528Asp)
n.2638C>A
 dbSNP gnomAD v4
1g.151406253C>ACA341948873POGZc.2830G>T (p.Ala944Ser)
c.2623G>T (p.Ala875Ser)
c.2782G>T (p.Ala928Ser)
c.2803G>T (p.Ala935Ser)
n.2930G>T
c.2497G>T (p.Ala833Ser)
c.2755G>T (p.Ala919Ser)
c.2650G>T (p.Ala884Ser)
c.2596G>T (p.Ala866Ser)
c.2674G>T (p.Ala892Ser)
c.2425G>T (p.Ala809Ser)
c.2656G>T (p.Ala886Ser)
c.1582G>T (p.Ala528Ser)
n.2637G>T
1g.151406253C=CA2479570573POGZc.2830G= (p.Ala944=)
c.2623G= (p.Ala875=)
c.2782G= (p.Ala928=)
c.2803G= (p.Ala935=)
n.2930G=
c.2497G= (p.Ala833=)
c.2755G= (p.Ala919=)
c.2650G= (p.Ala884=)
c.2596G= (p.Ala866=)
c.2674G= (p.Ala892=)
c.2425G= (p.Ala809=)
c.2656G= (p.Ala886=)
c.1582G= (p.Ala528=)
n.2637G=
1g.151406253C>GCA341948875POGZc.2830G>C (p.Ala944Pro)
c.2623G>C (p.Ala875Pro)
c.2782G>C (p.Ala928Pro)
c.2803G>C (p.Ala935Pro)
n.2930G>C
c.2497G>C (p.Ala833Pro)
c.2755G>C (p.Ala919Pro)
c.2650G>C (p.Ala884Pro)
c.2596G>C (p.Ala866Pro)
c.2674G>C (p.Ala892Pro)
c.2425G>C (p.Ala809Pro)
c.2656G>C (p.Ala886Pro)
c.1582G>C (p.Ala528Pro)
n.2637G>C
1g.151406253C>TCA341948878POGZc.2830G>A (p.Ala944Thr)
c.2623G>A (p.Ala875Thr)
c.2782G>A (p.Ala928Thr)
c.2803G>A (p.Ala935Thr)
n.2930G>A
c.2497G>A (p.Ala833Thr)
c.2755G>A (p.Ala919Thr)
c.2650G>A (p.Ala884Thr)
c.2596G>A (p.Ala866Thr)
c.2674G>A (p.Ala892Thr)
c.2425G>A (p.Ala809Thr)
c.2656G>A (p.Ala886Thr)
c.1582G>A (p.Ala528Thr)
n.2637G>A
1g.151406254T>ACA341948880POGZc.2829A>T (p.Leu943Phe)
c.2622A>T (p.Leu874Phe)
c.2781A>T (p.Leu927Phe)
c.2802A>T (p.Leu934Phe)
n.2929A>T
c.2496A>T (p.Leu832Phe)
c.2754A>T (p.Leu918Phe)
c.2649A>T (p.Leu883Phe)
c.2595A>T (p.Leu865Phe)
c.2673A>T (p.Leu891Phe)
c.2424A>T (p.Leu808Phe)
c.2655A>T (p.Leu885Phe)
c.1581A>T (p.Leu527Phe)
n.2636A>T
 gnomAD v4
1g.151406254T>CCA420910185POGZc.2829A>G (p.Leu943=)
c.2622A>G (p.Leu874=)
c.2781A>G (p.Leu927=)
c.2802A>G (p.Leu934=)
n.2929A>G
c.2496A>G (p.Leu832=)
c.2754A>G (p.Leu918=)
c.2649A>G (p.Leu883=)
c.2595A>G (p.Leu865=)
c.2673A>G (p.Leu891=)
c.2424A>G (p.Leu808=)
c.2655A>G (p.Leu885=)
c.1581A>G (p.Leu527=)
n.2636A>G
1g.151406254T>GCA341948882POGZc.2829A>C (p.Leu943Phe)
c.2622A>C (p.Leu874Phe)
c.2781A>C (p.Leu927Phe)
c.2802A>C (p.Leu934Phe)
n.2929A>C
c.2496A>C (p.Leu832Phe)
c.2754A>C (p.Leu918Phe)
c.2649A>C (p.Leu883Phe)
c.2595A>C (p.Leu865Phe)
c.2673A>C (p.Leu891Phe)
c.2424A>C (p.Leu808Phe)
c.2655A>C (p.Leu885Phe)
c.1581A>C (p.Leu527Phe)
n.2636A>C
1g.151406254T=CA2479570574POGZc.2829A= (p.Leu943=)
c.2622A= (p.Leu874=)
c.2781A= (p.Leu927=)
c.2802A= (p.Leu934=)
n.2929A=
c.2496A= (p.Leu832=)
c.2754A= (p.Leu918=)
c.2649A= (p.Leu883=)
c.2595A= (p.Leu865=)
c.2673A= (p.Leu891=)
c.2424A= (p.Leu808=)
c.2655A= (p.Leu885=)
c.1581A= (p.Leu527=)
n.2636A=
1g.151406254dupCA915941413POGZc.2829dup (p.Ala944SerfsTer16)
c.2622dup (p.Ala875SerfsTer16)
c.2781dup (p.Ala928SerfsTer16)
c.2802dup (p.Ala935SerfsTer16)
n.2929dup
c.2496dup (p.Ala833SerfsTer16)
c.2754dup (p.Ala919SerfsTer16)
c.2649dup (p.Ala884SerfsTer16)
c.2595dup (p.Ala866SerfsTer16)
c.2673dup (p.Ala892SerfsTer16)
c.2424dup (p.Ala809SerfsTer16)
c.2655dup (p.Ala886SerfsTer16)
c.1581dup (p.Ala528SerfsTer16)
n.2636dup
 ClinVar dbSNP
1g.151406255A>CCA341948893POGZc.2828T>G (p.Leu943Ter)
c.2621T>G (p.Leu874Ter)
c.2780T>G (p.Leu927Ter)
c.2801T>G (p.Leu934Ter)
n.2928T>G
c.2495T>G (p.Leu832Ter)
c.2753T>G (p.Leu918Ter)
c.2648T>G (p.Leu883Ter)
c.2594T>G (p.Leu865Ter)
c.2672T>G (p.Leu891Ter)
c.2423T>G (p.Leu808Ter)
c.2654T>G (p.Leu885Ter)
c.1580T>G (p.Leu527Ter)
n.2635T>G
1g.151406255A>GCA341948890POGZc.2828T>C (p.Leu943Ser)
c.2621T>C (p.Leu874Ser)
c.2780T>C (p.Leu927Ser)
c.2801T>C (p.Leu934Ser)
n.2928T>C
c.2495T>C (p.Leu832Ser)
c.2753T>C (p.Leu918Ser)
c.2648T>C (p.Leu883Ser)
c.2594T>C (p.Leu865Ser)
c.2672T>C (p.Leu891Ser)
c.2423T>C (p.Leu808Ser)
c.2654T>C (p.Leu885Ser)
c.1580T>C (p.Leu527Ser)
n.2635T>C
1g.151406255A>TCA341948887POGZc.2828T>A (p.Leu943Ter)
c.2621T>A (p.Leu874Ter)
c.2780T>A (p.Leu927Ter)
c.2801T>A (p.Leu934Ter)
n.2928T>A
c.2495T>A (p.Leu832Ter)
c.2753T>A (p.Leu918Ter)
c.2648T>A (p.Leu883Ter)
c.2594T>A (p.Leu865Ter)
c.2672T>A (p.Leu891Ter)
c.2423T>A (p.Leu808Ter)
c.2654T>A (p.Leu885Ter)
c.1580T>A (p.Leu527Ter)
n.2635T>A
1g.151406257dupCA347939POGZc.2828dup (p.Leu943PhefsTer17)
c.2621dup (p.Leu874PhefsTer17)
c.2780dup (p.Leu927PhefsTer17)
c.2801dup (p.Leu934PhefsTer17)
n.2928dup
c.2495dup (p.Leu832PhefsTer17)
c.2753dup (p.Leu918PhefsTer17)
c.2648dup (p.Leu883PhefsTer17)
c.2594dup (p.Leu865PhefsTer17)
c.2672dup (p.Leu891PhefsTer17)
c.2423dup (p.Leu808PhefsTer17)
c.2654dup (p.Leu885PhefsTer17)
c.1580dup (p.Leu527PhefsTer17)
n.2635dup
 ClinVar dbSNP
1g.151406256A>CCA341948894POGZc.2827T>G (p.Leu943Val)
c.2620T>G (p.Leu874Val)
c.2779T>G (p.Leu927Val)
c.2800T>G (p.Leu934Val)
n.2927T>G
c.2494T>G (p.Leu832Val)
c.2752T>G (p.Leu918Val)
c.2647T>G (p.Leu883Val)
c.2593T>G (p.Leu865Val)
c.2671T>G (p.Leu891Val)
c.2422T>G (p.Leu808Val)
c.2653T>G (p.Leu885Val)
c.1579T>G (p.Leu527Val)
n.2634T>G
1g.151406256A>GCA420910189POGZc.2827T>C (p.Leu943=)
c.2620T>C (p.Leu874=)
c.2779T>C (p.Leu927=)
c.2800T>C (p.Leu934=)
n.2927T>C
c.2494T>C (p.Leu832=)
c.2752T>C (p.Leu918=)
c.2647T>C (p.Leu883=)
c.2593T>C (p.Leu865=)
c.2671T>C (p.Leu891=)
c.2422T>C (p.Leu808=)
c.2653T>C (p.Leu885=)
c.1579T>C (p.Leu527=)
n.2634T>C
1g.151406256A>TCA341948895POGZc.2827T>A (p.Leu943Ile)
c.2620T>A (p.Leu874Ile)
c.2779T>A (p.Leu927Ile)
c.2800T>A (p.Leu934Ile)
n.2927T>A
c.2494T>A (p.Leu832Ile)
c.2752T>A (p.Leu918Ile)
c.2647T>A (p.Leu883Ile)
c.2593T>A (p.Leu865Ile)
c.2671T>A (p.Leu891Ile)
c.2422T>A (p.Leu808Ile)
c.2653T>A (p.Leu885Ile)
c.1579T>A (p.Leu527Ile)
n.2634T>A
1g.151406257A>CCA420910196POGZc.2826T>G (p.Ala942=)
c.2619T>G (p.Ala873=)
c.2778T>G (p.Ala926=)
c.2799T>G (p.Ala933=)
n.2926T>G
c.2493T>G (p.Ala831=)
c.2751T>G (p.Ala917=)
c.2646T>G (p.Ala882=)
c.2592T>G (p.Ala864=)
c.2670T>G (p.Ala890=)
c.2421T>G (p.Ala807=)
c.2652T>G (p.Ala884=)
c.1578T>G (p.Ala526=)
n.2633T>G
1g.151406257A>GCA420910198POGZc.2826T>C (p.Ala942=)
c.2619T>C (p.Ala873=)
c.2778T>C (p.Ala926=)
c.2799T>C (p.Ala933=)
n.2926T>C
c.2493T>C (p.Ala831=)
c.2751T>C (p.Ala917=)
c.2646T>C (p.Ala882=)
c.2592T>C (p.Ala864=)
c.2670T>C (p.Ala890=)
c.2421T>C (p.Ala807=)
c.2652T>C (p.Ala884=)
c.1578T>C (p.Ala526=)
n.2633T>C
 gnomAD v4
1g.151406257A>TCA420910201POGZc.2826T>A (p.Ala942=)
c.2619T>A (p.Ala873=)
c.2778T>A (p.Ala926=)
c.2799T>A (p.Ala933=)
n.2926T>A
c.2493T>A (p.Ala831=)
c.2751T>A (p.Ala917=)
c.2646T>A (p.Ala882=)
c.2592T>A (p.Ala864=)
c.2670T>A (p.Ala890=)
c.2421T>A (p.Ala807=)
c.2652T>A (p.Ala884=)
c.1578T>A (p.Ala526=)
n.2633T>A
1g.151406258G>ACA341948900POGZc.2825C>T (p.Ala942Val)
c.2618C>T (p.Ala873Val)
c.2777C>T (p.Ala926Val)
c.2798C>T (p.Ala933Val)
n.2925C>T
c.2492C>T (p.Ala831Val)
c.2750C>T (p.Ala917Val)
c.2645C>T (p.Ala882Val)
c.2591C>T (p.Ala864Val)
c.2669C>T (p.Ala890Val)
c.2420C>T (p.Ala807Val)
c.2651C>T (p.Ala884Val)
c.1577C>T (p.Ala526Val)
n.2632C>T
1g.151406258G>CCA341948903POGZc.2825C>G (p.Ala942Gly)
c.2618C>G (p.Ala873Gly)
c.2777C>G (p.Ala926Gly)
c.2798C>G (p.Ala933Gly)
n.2925C>G
c.2492C>G (p.Ala831Gly)
c.2750C>G (p.Ala917Gly)
c.2645C>G (p.Ala882Gly)
c.2591C>G (p.Ala864Gly)
c.2669C>G (p.Ala890Gly)
c.2420C>G (p.Ala807Gly)
c.2651C>G (p.Ala884Gly)
c.1577C>G (p.Ala526Gly)
n.2632C>G
1g.151406258G>TCA341948906POGZc.2825C>A (p.Ala942Asp)
c.2618C>A (p.Ala873Asp)
c.2777C>A (p.Ala926Asp)
c.2798C>A (p.Ala933Asp)
n.2925C>A
c.2492C>A (p.Ala831Asp)
c.2750C>A (p.Ala917Asp)
c.2645C>A (p.Ala882Asp)
c.2591C>A (p.Ala864Asp)
c.2669C>A (p.Ala890Asp)
c.2420C>A (p.Ala807Asp)
c.2651C>A (p.Ala884Asp)
c.1577C>A (p.Ala526Asp)
n.2632C>A
1g.151406259C>ACA341948914POGZc.2824G>T (p.Ala942Ser)
c.2617G>T (p.Ala873Ser)
c.2776G>T (p.Ala926Ser)
c.2797G>T (p.Ala933Ser)
n.2924G>T
c.2491G>T (p.Ala831Ser)
c.2749G>T (p.Ala917Ser)
c.2644G>T (p.Ala882Ser)
c.2590G>T (p.Ala864Ser)
c.2668G>T (p.Ala890Ser)
c.2419G>T (p.Ala807Ser)
c.2650G>T (p.Ala884Ser)
c.1576G>T (p.Ala526Ser)
n.2631G>T
 ClinVar
1g.151406259C=CA2479570575POGZc.2824G= (p.Ala942=)
c.2617G= (p.Ala873=)
c.2776G= (p.Ala926=)
c.2797G= (p.Ala933=)
n.2924G=
c.2491G= (p.Ala831=)
c.2749G= (p.Ala917=)
c.2644G= (p.Ala882=)
c.2590G= (p.Ala864=)
c.2668G= (p.Ala890=)
c.2419G= (p.Ala807=)
c.2650G= (p.Ala884=)
c.1576G= (p.Ala526=)
n.2631G=
1g.151406259C>GCA341948920POGZc.2824G>C (p.Ala942Pro)
c.2617G>C (p.Ala873Pro)
c.2776G>C (p.Ala926Pro)
c.2797G>C (p.Ala933Pro)
n.2924G>C
c.2491G>C (p.Ala831Pro)
c.2749G>C (p.Ala917Pro)
c.2644G>C (p.Ala882Pro)
c.2590G>C (p.Ala864Pro)
c.2668G>C (p.Ala890Pro)
c.2419G>C (p.Ala807Pro)
c.2650G>C (p.Ala884Pro)
c.1576G>C (p.Ala526Pro)
n.2631G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.151406259C>TCA341948924POGZc.2824G>A (p.Ala942Thr)
c.2617G>A (p.Ala873Thr)
c.2776G>A (p.Ala926Thr)
c.2797G>A (p.Ala933Thr)
n.2924G>A
c.2491G>A (p.Ala831Thr)
c.2749G>A (p.Ala917Thr)
c.2644G>A (p.Ala882Thr)
c.2590G>A (p.Ala864Thr)
c.2668G>A (p.Ala890Thr)
c.2419G>A (p.Ala807Thr)
c.2650G>A (p.Ala884Thr)
c.1576G>A (p.Ala526Thr)
n.2631G>A
1g.151406260C>ACA341948930POGZc.2823G>T (p.Gln941His)
c.2616G>T (p.Gln872His)
c.2775G>T (p.Gln925His)
c.2796G>T (p.Gln932His)
n.2923G>T
c.2490G>T (p.Gln830His)
c.2748G>T (p.Gln916His)
c.2643G>T (p.Gln881His)
c.2589G>T (p.Gln863His)
c.2667G>T (p.Gln889His)
c.2418G>T (p.Gln806His)
c.2649G>T (p.Gln883His)
c.1575G>T (p.Gln525His)
n.2630G>T
1g.151406260C=CA2479570576POGZc.2823G= (p.Gln941=)
c.2616G= (p.Gln872=)
c.2775G= (p.Gln925=)
c.2796G= (p.Gln932=)
n.2923G=
c.2490G= (p.Gln830=)
c.2748G= (p.Gln916=)
c.2643G= (p.Gln881=)
c.2589G= (p.Gln863=)
c.2667G= (p.Gln889=)
c.2418G= (p.Gln806=)
c.2649G= (p.Gln883=)
c.1575G= (p.Gln525=)
n.2630G=
1g.151406260C>GCA29569352POGZc.2823G>C (p.Gln941His)
c.2616G>C (p.Gln872His)
c.2775G>C (p.Gln925His)
c.2796G>C (p.Gln932His)
n.2923G>C
c.2490G>C (p.Gln830His)
c.2748G>C (p.Gln916His)
c.2643G>C (p.Gln881His)
c.2589G>C (p.Gln863His)
c.2667G>C (p.Gln889His)
c.2418G>C (p.Gln806His)
c.2649G>C (p.Gln883His)
c.1575G>C (p.Gln525His)
n.2630G>C
 dbSNP gnomAD v3 gnomAD v4
1g.151406260C>TCA420910206POGZc.2823G>A (p.Gln941=)
c.2616G>A (p.Gln872=)
c.2775G>A (p.Gln925=)
c.2796G>A (p.Gln932=)
n.2923G>A
c.2490G>A (p.Gln830=)
c.2748G>A (p.Gln916=)
c.2643G>A (p.Gln881=)
c.2589G>A (p.Gln863=)
c.2667G>A (p.Gln889=)
c.2418G>A (p.Gln806=)
c.2649G>A (p.Gln883=)
c.1575G>A (p.Gln525=)
n.2630G>A
 gnomAD v4
1g.151406261T>ACA341948939POGZc.2822A>T (p.Gln941Leu)
c.2615A>T (p.Gln872Leu)
c.2774A>T (p.Gln925Leu)
c.2795A>T (p.Gln932Leu)
n.2922A>T
c.2489A>T (p.Gln830Leu)
c.2747A>T (p.Gln916Leu)
c.2642A>T (p.Gln881Leu)
c.2588A>T (p.Gln863Leu)
c.2666A>T (p.Gln889Leu)
c.2417A>T (p.Gln806Leu)
c.2648A>T (p.Gln883Leu)
c.1574A>T (p.Gln525Leu)
n.2629A>T
 dbSNP gnomAD v3 gnomAD v4
1g.151406261T>CCA341948947POGZc.2822A>G (p.Gln941Arg)
c.2615A>G (p.Gln872Arg)
c.2774A>G (p.Gln925Arg)
c.2795A>G (p.Gln932Arg)
n.2922A>G
c.2489A>G (p.Gln830Arg)
c.2747A>G (p.Gln916Arg)
c.2642A>G (p.Gln881Arg)
c.2588A>G (p.Gln863Arg)
c.2666A>G (p.Gln889Arg)
c.2417A>G (p.Gln806Arg)
c.2648A>G (p.Gln883Arg)
c.1574A>G (p.Gln525Arg)
n.2629A>G
1g.151406261T>GCA341948951POGZc.2822A>C (p.Gln941Pro)
c.2615A>C (p.Gln872Pro)
c.2774A>C (p.Gln925Pro)
c.2795A>C (p.Gln932Pro)
n.2922A>C
c.2489A>C (p.Gln830Pro)
c.2747A>C (p.Gln916Pro)
c.2642A>C (p.Gln881Pro)
c.2588A>C (p.Gln863Pro)
c.2666A>C (p.Gln889Pro)
c.2417A>C (p.Gln806Pro)
c.2648A>C (p.Gln883Pro)
c.1574A>C (p.Gln525Pro)
n.2629A>C
1g.151406261T=CA2479570577POGZc.2822A= (p.Gln941=)
c.2615A= (p.Gln872=)
c.2774A= (p.Gln925=)
c.2795A= (p.Gln932=)
n.2922A=
c.2489A= (p.Gln830=)
c.2747A= (p.Gln916=)
c.2642A= (p.Gln881=)
c.2588A= (p.Gln863=)
c.2666A= (p.Gln889=)
c.2417A= (p.Gln806=)
c.2648A= (p.Gln883=)
c.1574A= (p.Gln525=)
n.2629A=
1g.151406262G>ACA341948955POGZc.2821C>T (p.Gln941Ter)
c.2614C>T (p.Gln872Ter)
c.2773C>T (p.Gln925Ter)
c.2794C>T (p.Gln932Ter)
n.2921C>T
c.2488C>T (p.Gln830Ter)
c.2746C>T (p.Gln916Ter)
c.2641C>T (p.Gln881Ter)
c.2587C>T (p.Gln863Ter)
c.2665C>T (p.Gln889Ter)
c.2416C>T (p.Gln806Ter)
c.2647C>T (p.Gln883Ter)
c.1573C>T (p.Gln525Ter)
n.2628C>T
1g.151406262G>CCA341948953POGZc.2821C>G (p.Gln941Glu)
c.2614C>G (p.Gln872Glu)
c.2773C>G (p.Gln925Glu)
c.2794C>G (p.Gln932Glu)
n.2921C>G
c.2488C>G (p.Gln830Glu)
c.2746C>G (p.Gln916Glu)
c.2641C>G (p.Gln881Glu)
c.2587C>G (p.Gln863Glu)
c.2665C>G (p.Gln889Glu)
c.2416C>G (p.Gln806Glu)
c.2647C>G (p.Gln883Glu)
c.1573C>G (p.Gln525Glu)
n.2628C>G
1g.151406262G>TCA341948952POGZc.2821C>A (p.Gln941Lys)
c.2614C>A (p.Gln872Lys)
c.2773C>A (p.Gln925Lys)
c.2794C>A (p.Gln932Lys)
n.2921C>A
c.2488C>A (p.Gln830Lys)
c.2746C>A (p.Gln916Lys)
c.2641C>A (p.Gln881Lys)
c.2587C>A (p.Gln863Lys)
c.2665C>A (p.Gln889Lys)
c.2416C>A (p.Gln806Lys)
c.2647C>A (p.Gln883Lys)
c.1573C>A (p.Gln525Lys)
n.2628C>A
1g.151406263C>ACA1091063POGZc.2820G>T (p.Pro940=)
c.2613G>T (p.Pro871=)
c.2772G>T (p.Pro924=)
c.2793G>T (p.Pro931=)
n.2920G>T
c.2487G>T (p.Pro829=)
c.2745G>T (p.Pro915=)
c.2640G>T (p.Pro880=)
c.2586G>T (p.Pro862=)
c.2664G>T (p.Pro888=)
c.2415G>T (p.Pro805=)
c.2646G>T (p.Pro882=)
c.1572G>T (p.Pro524=)
n.2627G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406263C=CA2479570578POGZc.2820G= (p.Pro940=)
c.2613G= (p.Pro871=)
c.2772G= (p.Pro924=)
c.2793G= (p.Pro931=)
n.2920G=
c.2487G= (p.Pro829=)
c.2745G= (p.Pro915=)
c.2640G= (p.Pro880=)
c.2586G= (p.Pro862=)
c.2664G= (p.Pro888=)
c.2415G= (p.Pro805=)
c.2646G= (p.Pro882=)
c.1572G= (p.Pro524=)
n.2627G=
1g.151406263C>GCA420910214POGZc.2820G>C (p.Pro940=)
c.2613G>C (p.Pro871=)
c.2772G>C (p.Pro924=)
c.2793G>C (p.Pro931=)
n.2920G>C
c.2487G>C (p.Pro829=)
c.2745G>C (p.Pro915=)
c.2640G>C (p.Pro880=)
c.2586G>C (p.Pro862=)
c.2664G>C (p.Pro888=)
c.2415G>C (p.Pro805=)
c.2646G>C (p.Pro882=)
c.1572G>C (p.Pro524=)
n.2627G>C
 COSMIC COSMIC
1g.151406263C>TCA1091064POGZc.2820G>A (p.Pro940=)
c.2613G>A (p.Pro871=)
c.2772G>A (p.Pro924=)
c.2793G>A (p.Pro931=)
n.2920G>A
c.2487G>A (p.Pro829=)
c.2745G>A (p.Pro915=)
c.2640G>A (p.Pro880=)
c.2586G>A (p.Pro862=)
c.2664G>A (p.Pro888=)
c.2415G>A (p.Pro805=)
c.2646G>A (p.Pro882=)
c.1572G>A (p.Pro524=)
n.2627G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406263_151406264delinsCGCA2479570579POGZc.2819_2820delinsCG (p.Pro940=)
c.2612_2613delinsCG (p.Pro871=)
c.2771_2772delinsCG (p.Pro924=)
c.2792_2793delinsCG (p.Pro931=)
n.2919_2920delinsCG
c.2486_2487delinsCG (p.Pro829=)
c.2744_2745delinsCG (p.Pro915=)
c.2639_2640delinsCG (p.Pro880=)
c.2585_2586delinsCG (p.Pro862=)
c.2663_2664delinsCG (p.Pro888=)
c.2414_2415delinsCG (p.Pro805=)
c.2645_2646delinsCG (p.Pro882=)
c.1571_1572delinsCG (p.Pro524=)
n.2626_2627delinsCG
1g.151406264G>ACA1091065POGZc.2819C>T (p.Pro940Leu)
c.2612C>T (p.Pro871Leu)
c.2771C>T (p.Pro924Leu)
c.2792C>T (p.Pro931Leu)
n.2919C>T
c.2486C>T (p.Pro829Leu)
c.2744C>T (p.Pro915Leu)
c.2639C>T (p.Pro880Leu)
c.2585C>T (p.Pro862Leu)
c.2663C>T (p.Pro888Leu)
c.2414C>T (p.Pro805Leu)
c.2645C>T (p.Pro882Leu)
c.1571C>T (p.Pro524Leu)
n.2626C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.151406264G>CCA341948975POGZc.2819C>G (p.Pro940Arg)
c.2612C>G (p.Pro871Arg)
c.2771C>G (p.Pro924Arg)
c.2792C>G (p.Pro931Arg)
n.2919C>G
c.2486C>G (p.Pro829Arg)
c.2744C>G (p.Pro915Arg)
c.2639C>G (p.Pro880Arg)
c.2585C>G (p.Pro862Arg)
c.2663C>G (p.Pro888Arg)
c.2414C>G (p.Pro805Arg)
c.2645C>G (p.Pro882Arg)
c.1571C>G (p.Pro524Arg)
n.2626C>G
1g.151406264G=CA2479570580POGZc.2819C= (p.Pro940=)
c.2612C= (p.Pro871=)
c.2771C= (p.Pro924=)
c.2792C= (p.Pro931=)
n.2919C=
c.2486C= (p.Pro829=)
c.2744C= (p.Pro915=)
c.2639C= (p.Pro880=)
c.2585C= (p.Pro862=)
c.2663C= (p.Pro888=)
c.2414C= (p.Pro805=)
c.2645C= (p.Pro882=)
c.1571C= (p.Pro524=)
n.2626C=
1g.151406264G>TCA341948976POGZc.2819C>A (p.Pro940Gln)
c.2612C>A (p.Pro871Gln)
c.2771C>A (p.Pro924Gln)
c.2792C>A (p.Pro931Gln)
n.2919C>A
c.2486C>A (p.Pro829Gln)
c.2744C>A (p.Pro915Gln)
c.2639C>A (p.Pro880Gln)
c.2585C>A (p.Pro862Gln)
c.2663C>A (p.Pro888Gln)
c.2414C>A (p.Pro805Gln)
c.2645C>A (p.Pro882Gln)
c.1571C>A (p.Pro524Gln)
n.2626C>A
1g.151406266dupCA2740090363POGZc.2819dup (p.Gln941AlafsTer19)
c.2612dup (p.Gln872AlafsTer19)
c.2771dup (p.Gln925AlafsTer19)
c.2792dup (p.Gln932AlafsTer19)
n.2919dup
c.2486dup (p.Gln830AlafsTer19)
c.2744dup (p.Gln916AlafsTer19)
c.2639dup (p.Gln881AlafsTer19)
c.2585dup (p.Gln863AlafsTer19)
c.2663dup (p.Gln889AlafsTer19)
c.2414dup (p.Gln806AlafsTer19)
c.2645dup (p.Gln883AlafsTer19)
c.1571dup (p.Gln525AlafsTer19)
n.2626dup
 ClinVar
1g.151406266delCA658795515POGZc.2819del (p.Pro940ArgfsTer4)
c.2612del (p.Pro871ArgfsTer4)
c.2771del (p.Pro924ArgfsTer4)
c.2792del (p.Pro931ArgfsTer4)
n.2919del
c.2486del (p.Pro829ArgfsTer4)
c.2744del (p.Pro915ArgfsTer4)
c.2639del (p.Pro880ArgfsTer4)
c.2585del (p.Pro862ArgfsTer4)
c.2663del (p.Pro888ArgfsTer4)
c.2414del (p.Pro805ArgfsTer4)
c.2645del (p.Pro882ArgfsTer4)
c.1571del (p.Pro524ArgfsTer4)
n.2626del
 ClinVar dbSNP
1g.151406265G>ACA341948977POGZc.2818C>T (p.Pro940Ser)
c.2611C>T (p.Pro871Ser)
c.2770C>T (p.Pro924Ser)
c.2791C>T (p.Pro931Ser)
n.2918C>T
c.2485C>T (p.Pro829Ser)
c.2743C>T (p.Pro915Ser)
c.2638C>T (p.Pro880Ser)
c.2584C>T (p.Pro862Ser)
c.2662C>T (p.Pro888Ser)
c.2413C>T (p.Pro805Ser)
c.2644C>T (p.Pro882Ser)
c.1570C>T (p.Pro524Ser)
n.2625C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.151406265G>CCA341948978POGZc.2818C>G (p.Pro940Ala)
c.2611C>G (p.Pro871Ala)
c.2770C>G (p.Pro924Ala)
c.2791C>G (p.Pro931Ala)
n.2918C>G
c.2485C>G (p.Pro829Ala)
c.2743C>G (p.Pro915Ala)
c.2638C>G (p.Pro880Ala)
c.2584C>G (p.Pro862Ala)
c.2662C>G (p.Pro888Ala)
c.2413C>G (p.Pro805Ala)
c.2644C>G (p.Pro882Ala)
c.1570C>G (p.Pro524Ala)
n.2625C>G
 dbSNP
1g.151406265G=CA2479570581POGZc.2818C= (p.Pro940=)
c.2611C= (p.Pro871=)
c.2770C= (p.Pro924=)
c.2791C= (p.Pro931=)
n.2918C=
c.2485C= (p.Pro829=)
c.2743C= (p.Pro915=)
c.2638C= (p.Pro880=)
c.2584C= (p.Pro862=)
c.2662C= (p.Pro888=)
c.2413C= (p.Pro805=)
c.2644C= (p.Pro882=)
c.1570C= (p.Pro524=)
n.2625C=
1g.151406265G>TCA341948982POGZc.2818C>A (p.Pro940Thr)
c.2611C>A (p.Pro871Thr)
c.2770C>A (p.Pro924Thr)
c.2791C>A (p.Pro931Thr)
n.2918C>A
c.2485C>A (p.Pro829Thr)
c.2743C>A (p.Pro915Thr)
c.2638C>A (p.Pro880Thr)
c.2584C>A (p.Pro862Thr)
c.2662C>A (p.Pro888Thr)
c.2413C>A (p.Pro805Thr)
c.2644C>A (p.Pro882Thr)
c.1570C>A (p.Pro524Thr)
n.2625C>A
 gnomAD v4
1g.151406266G>ACA420910221POGZc.2817C>T (p.His939=)
c.2610C>T (p.His870=)
c.2769C>T (p.His923=)
c.2790C>T (p.His930=)
n.2917C>T
c.2484C>T (p.His828=)
c.2742C>T (p.His914=)
c.2637C>T (p.His879=)
c.2583C>T (p.His861=)
c.2661C>T (p.His887=)
c.2412C>T (p.His804=)
c.2643C>T (p.His881=)
c.1569C>T (p.His523=)
n.2624C>T
1g.151406266G>CCA341948987POGZc.2817C>G (p.His939Gln)
c.2610C>G (p.His870Gln)
c.2769C>G (p.His923Gln)
c.2790C>G (p.His930Gln)
n.2917C>G
c.2484C>G (p.His828Gln)
c.2742C>G (p.His914Gln)
c.2637C>G (p.His879Gln)
c.2583C>G (p.His861Gln)
c.2661C>G (p.His887Gln)
c.2412C>G (p.His804Gln)
c.2643C>G (p.His881Gln)
c.1569C>G (p.His523Gln)
n.2624C>G
1g.151406266G=CA2479570582POGZc.2817C= (p.His939=)
c.2610C= (p.His870=)
c.2769C= (p.His923=)
c.2790C= (p.His930=)
n.2917C=
c.2484C= (p.His828=)
c.2742C= (p.His914=)
c.2637C= (p.His879=)
c.2583C= (p.His861=)
c.2661C= (p.His887=)
c.2412C= (p.His804=)
c.2643C= (p.His881=)
c.1569C= (p.His523=)
n.2624C=
1g.151406266G>TCA341948988POGZc.2817C>A (p.His939Gln)
c.2610C>A (p.His870Gln)
c.2769C>A (p.His923Gln)
c.2790C>A (p.His930Gln)
n.2917C>A
c.2484C>A (p.His828Gln)
c.2742C>A (p.His914Gln)
c.2637C>A (p.His879Gln)
c.2583C>A (p.His861Gln)
c.2661C>A (p.His887Gln)
c.2412C>A (p.His804Gln)
c.2643C>A (p.His881Gln)
c.1569C>A (p.His523Gln)
n.2624C>A
 dbSNP gnomAD v4

Number of alleles fetched