Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745317A>CCA397503096GEMIN4c.2726T>G (p.Leu909Trp)
c.2693T>G (p.Leu898Trp)
c.2738T>G (p.Leu913Trp)
17g.745317A>GCA397503098GEMIN4c.2726T>C (p.Leu909Ser)
c.2693T>C (p.Leu898Ser)
c.2738T>C (p.Leu913Ser)
17g.745317A>TCA397503100GEMIN4c.2726T>A (p.Leu909Ter)
c.2693T>A (p.Leu898Ter)
c.2738T>A (p.Leu913Ter)
17g.745318A>CCA397503102GEMIN4c.2725T>G (p.Leu909Val)
c.2692T>G (p.Leu898Val)
c.2737T>G (p.Leu913Val)
17g.745318A>GCA497383706GEMIN4c.2725T>C (p.Leu909=)
c.2692T>C (p.Leu898=)
c.2737T>C (p.Leu913=)
 dbSNP
17g.745318A>TCA397503104GEMIN4c.2725T>A (p.Leu909Met)
c.2692T>A (p.Leu898Met)
c.2737T>A (p.Leu913Met)
17g.745319C>ACA397503107GEMIN4c.2724G>T (p.Glu908Asp)
c.2691G>T (p.Glu897Asp)
c.2736G>T (p.Glu912Asp)
17g.745319C>GCA397503108GEMIN4c.2724G>C (p.Glu908Asp)
c.2691G>C (p.Glu897Asp)
c.2736G>C (p.Glu912Asp)
17g.745319C>TCA497383708GEMIN4c.2724G>A (p.Glu908=)
c.2691G>A (p.Glu897=)
c.2736G>A (p.Glu912=)
 gnomAD v4
17g.745320T>ACA397503109GEMIN4c.2723A>T (p.Glu908Val)
c.2690A>T (p.Glu897Val)
c.2735A>T (p.Glu912Val)
17g.745320T>CCA397503111GEMIN4c.2723A>G (p.Glu908Gly)
c.2690A>G (p.Glu897Gly)
c.2735A>G (p.Glu912Gly)
17g.745320T>GCA397503113GEMIN4c.2723A>C (p.Glu908Ala)
c.2690A>C (p.Glu897Ala)
c.2735A>C (p.Glu912Ala)
17g.745321C>ACA397503119GEMIN4c.2722G>T (p.Glu908Ter)
c.2689G>T (p.Glu897Ter)
c.2734G>T (p.Glu912Ter)
17g.745321C>GCA397503117GEMIN4c.2722G>C (p.Glu908Gln)
c.2689G>C (p.Glu897Gln)
c.2734G>C (p.Glu912Gln)
17g.745321C>TCA397503115GEMIN4c.2722G>A (p.Glu908Lys)
c.2689G>A (p.Glu897Lys)
c.2734G>A (p.Glu912Lys)
17g.745322C>ACA397503121GEMIN4c.2721G>T (p.Gln907His)
c.2688G>T (p.Gln896His)
c.2733G>T (p.Gln911His)
17g.745322C>GCA397503123GEMIN4c.2721G>C (p.Gln907His)
c.2688G>C (p.Gln896His)
c.2733G>C (p.Gln911His)
17g.745322C>TCA497383709GEMIN4c.2721G>A (p.Gln907=)
c.2688G>A (p.Gln896=)
c.2733G>A (p.Gln911=)
17g.745323T>ACA397503125GEMIN4c.2720A>T (p.Gln907Leu)
c.2687A>T (p.Gln896Leu)
c.2732A>T (p.Gln911Leu)
17g.745323T>CCA397503127GEMIN4c.2720A>G (p.Gln907Arg)
c.2687A>G (p.Gln896Arg)
c.2732A>G (p.Gln911Arg)
17g.745323T>GCA286713638GEMIN4c.2720A>C (p.Gln907Pro)
c.2687A>C (p.Gln896Pro)
c.2732A>C (p.Gln911Pro)
 dbSNP gnomAD v4
17g.745323T=CA2242474194GEMIN4c.2720A= (p.Gln907=)
c.2687A= (p.Gln896=)
c.2732A= (p.Gln911=)
17g.745324G>ACA397503131GEMIN4c.2719C>T (p.Gln907Ter)
c.2686C>T (p.Gln896Ter)
c.2731C>T (p.Gln911Ter)
17g.745324G>CCA397503133GEMIN4c.2719C>G (p.Gln907Glu)
c.2686C>G (p.Gln896Glu)
c.2731C>G (p.Gln911Glu)
17g.745324G=CA2242474195GEMIN4c.2719C= (p.Gln907=)
c.2686C= (p.Gln896=)
c.2731C= (p.Gln911=)
17g.745324G>TCA8262370GEMIN4c.2719C>A (p.Gln907Lys)
c.2686C>A (p.Gln896Lys)
c.2731C>A (p.Gln911Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745325G>ACA8262371GEMIN4c.2718C>T (p.Ala906=)
c.2685C>T (p.Ala895=)
c.2730C>T (p.Ala910=)
 dbSNP ExAC gnomAD v2
17g.745325G>CCA497383711GEMIN4c.2718C>G (p.Ala906=)
c.2685C>G (p.Ala895=)
c.2730C>G (p.Ala910=)
17g.745325G=CA2242474196GEMIN4c.2718C= (p.Ala906=)
c.2685C= (p.Ala895=)
c.2730C= (p.Ala910=)
17g.745325G>TCA497383712GEMIN4c.2718C>A (p.Ala906=)
c.2685C>A (p.Ala895=)
c.2730C>A (p.Ala910=)
17g.745326G>ACA397503137GEMIN4c.2717C>T (p.Ala906Val)
c.2684C>T (p.Ala895Val)
c.2729C>T (p.Ala910Val)
 dbSNP
17g.745326G>CCA397503138GEMIN4c.2717C>G (p.Ala906Gly)
c.2684C>G (p.Ala895Gly)
c.2729C>G (p.Ala910Gly)
17g.745326G=CA2242474197GEMIN4c.2717C= (p.Ala906=)
c.2684C= (p.Ala895=)
c.2729C= (p.Ala910=)
17g.745326G>TCA397503139GEMIN4c.2717C>A (p.Ala906Asp)
c.2684C>A (p.Ala895Asp)
c.2729C>A (p.Ala910Asp)
 gnomAD v4
17g.745327C>ACA397503142GEMIN4c.2716G>T (p.Ala906Ser)
c.2683G>T (p.Ala895Ser)
c.2728G>T (p.Ala910Ser)
17g.745327C=CA2242474198GEMIN4c.2716G= (p.Ala906=)
c.2683G= (p.Ala895=)
c.2728G= (p.Ala910=)
17g.745327C>GCA397503141GEMIN4c.2716G>C (p.Ala906Pro)
c.2683G>C (p.Ala895Pro)
c.2728G>C (p.Ala910Pro)
17g.745327C>TCA397503140GEMIN4c.2716G>A (p.Ala906Thr)
c.2683G>A (p.Ala895Thr)
c.2728G>A (p.Ala910Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745328A>CCA397503143GEMIN4c.2715T>G (p.Phe905Leu)
c.2682T>G (p.Phe894Leu)
c.2727T>G (p.Phe909Leu)
17g.745328A>GCA497383713GEMIN4c.2715T>C (p.Phe905=)
c.2682T>C (p.Phe894=)
c.2727T>C (p.Phe909=)
17g.745328A>TCA397503144GEMIN4c.2715T>A (p.Phe905Leu)
c.2682T>A (p.Phe894Leu)
c.2727T>A (p.Phe909Leu)
17g.745329A=CA2242474199GEMIN4c.2714T= (p.Phe905=)
c.2681T= (p.Phe894=)
c.2726T= (p.Phe909=)
17g.745329A>CCA397503145GEMIN4c.2714T>G (p.Phe905Cys)
c.2681T>G (p.Phe894Cys)
c.2726T>G (p.Phe909Cys)
17g.745329A>GCA397503146GEMIN4c.2714T>C (p.Phe905Ser)
c.2681T>C (p.Phe894Ser)
c.2726T>C (p.Phe909Ser)
 dbSNP
17g.745329A>TCA397503147GEMIN4c.2714T>A (p.Phe905Tyr)
c.2681T>A (p.Phe894Tyr)
c.2726T>A (p.Phe909Tyr)
17g.745330A>CCA397503148GEMIN4c.2713T>G (p.Phe905Val)
c.2680T>G (p.Phe894Val)
c.2725T>G (p.Phe909Val)
17g.745330A>GCA397503149GEMIN4c.2713T>C (p.Phe905Leu)
c.2680T>C (p.Phe894Leu)
c.2725T>C (p.Phe909Leu)
17g.745330A>TCA397503150GEMIN4c.2713T>A (p.Phe905Ile)
c.2680T>A (p.Phe894Ile)
c.2725T>A (p.Phe909Ile)
17g.745331G>ACA8262372GEMIN4c.2712C>T (p.Pro904=)
c.2679C>T (p.Pro893=)
c.2724C>T (p.Pro908=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745331G>CCA497383714GEMIN4c.2712C>G (p.Pro904=)
c.2679C>G (p.Pro893=)
c.2724C>G (p.Pro908=)
17g.745331G=CA2242474200GEMIN4c.2712C= (p.Pro904=)
c.2679C= (p.Pro893=)
c.2724C= (p.Pro908=)
17g.745331G>TCA497383715GEMIN4c.2712C>A (p.Pro904=)
c.2679C>A (p.Pro893=)
c.2724C>A (p.Pro908=)
17g.745332G>ACA397503151GEMIN4c.2711C>T (p.Pro904Leu)
c.2678C>T (p.Pro893Leu)
c.2723C>T (p.Pro908Leu)
17g.745332G>CCA397503152GEMIN4c.2711C>G (p.Pro904Arg)
c.2678C>G (p.Pro893Arg)
c.2723C>G (p.Pro908Arg)
17g.745332G>TCA397503153GEMIN4c.2711C>A (p.Pro904His)
c.2678C>A (p.Pro893His)
c.2723C>A (p.Pro908His)
17g.745333G>ACA8262374GEMIN4c.2710C>T (p.Pro904Ser)
c.2677C>T (p.Pro893Ser)
c.2722C>T (p.Pro908Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.745333G>CCA8262373GEMIN4c.2710C>G (p.Pro904Ala)
c.2677C>G (p.Pro893Ala)
c.2722C>G (p.Pro908Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745333G=CA2242474201GEMIN4c.2710C= (p.Pro904=)
c.2677C= (p.Pro893=)
c.2722C= (p.Pro908=)
17g.745333G>TCA397503154GEMIN4c.2710C>A (p.Pro904Thr)
c.2677C>A (p.Pro893Thr)
c.2722C>A (p.Pro908Thr)
17g.745334C>ACA397503155GEMIN4c.2709G>T (p.Lys903Asn)
c.2676G>T (p.Lys892Asn)
c.2721G>T (p.Lys907Asn)
17g.745334C>GCA397503156GEMIN4c.2709G>C (p.Lys903Asn)
c.2676G>C (p.Lys892Asn)
c.2721G>C (p.Lys907Asn)
17g.745334C>TCA497383716GEMIN4c.2709G>A (p.Lys903=)
c.2676G>A (p.Lys892=)
c.2721G>A (p.Lys907=)
17g.745335T>ACA397503157GEMIN4c.2708A>T (p.Lys903Met)
c.2675A>T (p.Lys892Met)
c.2720A>T (p.Lys907Met)
17g.745335T>CCA397503159GEMIN4c.2708A>G (p.Lys903Arg)
c.2675A>G (p.Lys892Arg)
c.2720A>G (p.Lys907Arg)
17g.745335T>GCA397503158GEMIN4c.2708A>C (p.Lys903Thr)
c.2675A>C (p.Lys892Thr)
c.2720A>C (p.Lys907Thr)
17g.745336T>ACA397503160GEMIN4c.2707A>T (p.Lys903Ter)
c.2674A>T (p.Lys892Ter)
c.2719A>T (p.Lys907Ter)
17g.745336T>CCA397503161GEMIN4c.2707A>G (p.Lys903Glu)
c.2674A>G (p.Lys892Glu)
c.2719A>G (p.Lys907Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745336T>GCA397503162GEMIN4c.2707A>C (p.Lys903Gln)
c.2674A>C (p.Lys892Gln)
c.2719A>C (p.Lys907Gln)
17g.745336T=CA2242474202GEMIN4c.2707A= (p.Lys903=)
c.2674A= (p.Lys892=)
c.2719A= (p.Lys907=)
17g.745337C>ACA497383717GEMIN4c.2706G>T (p.Leu902=)
c.2673G>T (p.Leu891=)
c.2718G>T (p.Leu906=)
17g.745337C>GCA497383718GEMIN4c.2706G>C (p.Leu902=)
c.2673G>C (p.Leu891=)
c.2718G>C (p.Leu906=)
17g.745337C>TCA497383719GEMIN4c.2706G>A (p.Leu902=)
c.2673G>A (p.Leu891=)
c.2718G>A (p.Leu906=)
17g.745338A>CCA397503163GEMIN4c.2705T>G (p.Leu902Arg)
c.2672T>G (p.Leu891Arg)
c.2717T>G (p.Leu906Arg)
17g.745338A>GCA397503164GEMIN4c.2705T>C (p.Leu902Pro)
c.2672T>C (p.Leu891Pro)
c.2717T>C (p.Leu906Pro)
17g.745338A>TCA397503165GEMIN4c.2705T>A (p.Leu902Gln)
c.2672T>A (p.Leu891Gln)
c.2717T>A (p.Leu906Gln)
17g.745339G>ACA8262375GEMIN4c.2704C>T (p.Leu902=)
c.2671C>T (p.Leu891=)
c.2716C>T (p.Leu906=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745339G>CCA397503166GEMIN4c.2704C>G (p.Leu902Val)
c.2671C>G (p.Leu891Val)
c.2716C>G (p.Leu906Val)
 gnomAD v4
17g.745339G=CA2242474203GEMIN4c.2704C= (p.Leu902=)
c.2671C= (p.Leu891=)
c.2716C= (p.Leu906=)
17g.745339G>TCA397503167GEMIN4c.2704C>A (p.Leu902Met)
c.2671C>A (p.Leu891Met)
c.2716C>A (p.Leu906Met)
17g.745340G>ACA497383720GEMIN4c.2703C>T (p.Asn901=)
c.2670C>T (p.Asn890=)
c.2715C>T (p.Asn905=)
17g.745340G>CCA286713639GEMIN4c.2703C>G (p.Asn901Lys)
c.2670C>G (p.Asn890Lys)
c.2715C>G (p.Asn905Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.745340G=CA2242474204GEMIN4c.2703C= (p.Asn901=)
c.2670C= (p.Asn890=)
c.2715C= (p.Asn905=)
17g.745340G>TCA397503168GEMIN4c.2703C>A (p.Asn901Lys)
c.2670C>A (p.Asn890Lys)
c.2715C>A (p.Asn905Lys)
17g.745341T>ACA397503170GEMIN4c.2702A>T (p.Asn901Ile)
c.2669A>T (p.Asn890Ile)
c.2714A>T (p.Asn905Ile)
 dbSNP gnomAD v4
17g.745341T>CCA397503169GEMIN4c.2702A>G (p.Asn901Ser)
c.2669A>G (p.Asn890Ser)
c.2714A>G (p.Asn905Ser)
 ClinVar
17g.745341T>GCA8262376GEMIN4c.2702A>C (p.Asn901Thr)
c.2669A>C (p.Asn890Thr)
c.2714A>C (p.Asn905Thr)
 dbSNP ExAC gnomAD v4
17g.745341T=CA2242474205GEMIN4c.2702A= (p.Asn901=)
c.2669A= (p.Asn890=)
c.2714A= (p.Asn905=)
17g.745342T>ACA397503171GEMIN4c.2701A>T (p.Asn901Tyr)
c.2668A>T (p.Asn890Tyr)
c.2713A>T (p.Asn905Tyr)
17g.745342T>CCA397503172GEMIN4c.2701A>G (p.Asn901Asp)
c.2668A>G (p.Asn890Asp)
c.2713A>G (p.Asn905Asp)
17g.745342T>GCA397503173GEMIN4c.2701A>C (p.Asn901His)
c.2668A>C (p.Asn890His)
c.2713A>C (p.Asn905His)
17g.745343G>ACA497383721GEMIN4c.2700C>T (p.Leu900=)
c.2667C>T (p.Leu889=)
c.2712C>T (p.Leu904=)
17g.745343G>CCA497383722GEMIN4c.2700C>G (p.Leu900=)
c.2667C>G (p.Leu889=)
c.2712C>G (p.Leu904=)
17g.745343G>TCA497383723GEMIN4c.2700C>A (p.Leu900=)
c.2667C>A (p.Leu889=)
c.2712C>A (p.Leu904=)
17g.745344A=CA2242474206GEMIN4c.2699T= (p.Leu900=)
c.2666T= (p.Leu889=)
c.2711T= (p.Leu904=)
17g.745344A>CCA397503174GEMIN4c.2699T>G (p.Leu900Arg)
c.2666T>G (p.Leu889Arg)
c.2711T>G (p.Leu904Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.745344A>GCA397503175GEMIN4c.2699T>C (p.Leu900Pro)
c.2666T>C (p.Leu889Pro)
c.2711T>C (p.Leu904Pro)
17g.745344A>TCA397503176GEMIN4c.2699T>A (p.Leu900His)
c.2666T>A (p.Leu889His)
c.2711T>A (p.Leu904His)
17g.745345G>ACA397503177GEMIN4c.2698C>T (p.Leu900Phe)
c.2665C>T (p.Leu889Phe)
c.2710C>T (p.Leu904Phe)
 gnomAD v4
17g.745345G>CCA397503178GEMIN4c.2698C>G (p.Leu900Val)
c.2665C>G (p.Leu889Val)
c.2710C>G (p.Leu904Val)
17g.745345G>TCA397503179GEMIN4c.2698C>A (p.Leu900Ile)
c.2665C>A (p.Leu889Ile)
c.2710C>A (p.Leu904Ile)
17g.745346C>ACA497383724GEMIN4c.2697G>T (p.Leu899=)
c.2664G>T (p.Leu888=)
c.2709G>T (p.Leu903=)
17g.745346C>GCA497383725GEMIN4c.2697G>C (p.Leu899=)
c.2664G>C (p.Leu888=)
c.2709G>C (p.Leu903=)
17g.745346C>TCA497383726GEMIN4c.2697G>A (p.Leu899=)
c.2664G>A (p.Leu888=)
c.2709G>A (p.Leu903=)
17g.745347A=CA2242474207GEMIN4c.2696T= (p.Leu899=)
c.2663T= (p.Leu888=)
c.2708T= (p.Leu903=)
17g.745347A>CCA8262377GEMIN4c.2696T>G (p.Leu899Arg)
c.2663T>G (p.Leu888Arg)
c.2708T>G (p.Leu903Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745347A>GCA397503180GEMIN4c.2696T>C (p.Leu899Pro)
c.2663T>C (p.Leu888Pro)
c.2708T>C (p.Leu903Pro)
17g.745347A>TCA397503181GEMIN4c.2696T>A (p.Leu899Gln)
c.2663T>A (p.Leu888Gln)
c.2708T>A (p.Leu903Gln)
17g.745348G>ACA8262378GEMIN4c.2695C>T (p.Leu899=)
c.2662C>T (p.Leu888=)
c.2707C>T (p.Leu903=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745348G>CCA397503183GEMIN4c.2695C>G (p.Leu899Val)
c.2662C>G (p.Leu888Val)
c.2707C>G (p.Leu903Val)
17g.745348G=CA2242474208GEMIN4c.2695C= (p.Leu899=)
c.2662C= (p.Leu888=)
c.2707C= (p.Leu903=)
17g.745348G>TCA397503182GEMIN4c.2695C>A (p.Leu899Met)
c.2662C>A (p.Leu888Met)
c.2707C>A (p.Leu903Met)
 gnomAD v4
17g.745349G>ACA497383727GEMIN4c.2694C>T (p.Pro898=)
c.2661C>T (p.Pro887=)
c.2706C>T (p.Pro902=)
 gnomAD v4
17g.745349G>CCA497383728GEMIN4c.2694C>G (p.Pro898=)
c.2661C>G (p.Pro887=)
c.2706C>G (p.Pro902=)
17g.745349G>TCA497383729GEMIN4c.2694C>A (p.Pro898=)
c.2661C>A (p.Pro887=)
c.2706C>A (p.Pro902=)
17g.745350G>ACA397503184GEMIN4c.2693C>T (p.Pro898Leu)
c.2660C>T (p.Pro887Leu)
c.2705C>T (p.Pro902Leu)
 gnomAD v4
17g.745350G>CCA397503185GEMIN4c.2693C>G (p.Pro898Arg)
c.2660C>G (p.Pro887Arg)
c.2705C>G (p.Pro902Arg)
 gnomAD v4
17g.745350G=CA2242474209GEMIN4c.2693C= (p.Pro898=)
c.2660C= (p.Pro887=)
c.2705C= (p.Pro902=)
17g.745350G>TCA397503186GEMIN4c.2693C>A (p.Pro898His)
c.2660C>A (p.Pro887His)
c.2705C>A (p.Pro902His)
 dbSNP gnomAD v2 gnomAD v4
17g.745351G>ACA397503187GEMIN4c.2692C>T (p.Pro898Ser)
c.2659C>T (p.Pro887Ser)
c.2704C>T (p.Pro902Ser)
 dbSNP gnomAD v4
17g.745351G>CCA397503188GEMIN4c.2692C>G (p.Pro898Ala)
c.2659C>G (p.Pro887Ala)
c.2704C>G (p.Pro902Ala)
 gnomAD v4
17g.745351G=CA2242474210GEMIN4c.2692C= (p.Pro898=)
c.2659C= (p.Pro887=)
c.2704C= (p.Pro902=)
17g.745351G>TCA397503189GEMIN4c.2692C>A (p.Pro898Thr)
c.2659C>A (p.Pro887Thr)
c.2704C>A (p.Pro902Thr)
17g.745351_745355delinsGAACACA2242474211GEMIN4c.2688_2692delinsTGTTC (p.Phe896=)
c.2655_2659delinsTGTTC (p.Phe885=)
c.2700_2704delinsTGTTC (p.Phe900=)
17g.745352A>CCA497383730GEMIN4c.2691T>G (p.Val897=)
c.2658T>G (p.Val886=)
c.2703T>G (p.Val901=)
17g.745352A>GCA497383731GEMIN4c.2691T>C (p.Val897=)
c.2658T>C (p.Val886=)
c.2703T>C (p.Val901=)
17g.745352A>TCA497383732GEMIN4c.2691T>A (p.Val897=)
c.2658T>A (p.Val886=)
c.2703T>A (p.Val901=)
17g.745355_745358delCA980579013GEMIN4c.2688_2691del (p.Val897ProfsTer5)
c.2655_2658del (p.Val886ProfsTer5)
c.2700_2703del (p.Val901ProfsTer5)
 dbSNP gnomAD v3 gnomAD v4
17g.745353A>CCA397503192GEMIN4c.2690T>G (p.Val897Gly)
c.2657T>G (p.Val886Gly)
c.2702T>G (p.Val901Gly)
17g.745353A>GCA397503190GEMIN4c.2690T>C (p.Val897Ala)
c.2657T>C (p.Val886Ala)
c.2702T>C (p.Val901Ala)
17g.745353A>TCA397503191GEMIN4c.2690T>A (p.Val897Asp)
c.2657T>A (p.Val886Asp)
c.2702T>A (p.Val901Asp)
17g.745354C>ACA397503193GEMIN4c.2689G>T (p.Val897Phe)
c.2656G>T (p.Val886Phe)
c.2701G>T (p.Val901Phe)
17g.745354C>GCA397503194GEMIN4c.2689G>C (p.Val897Leu)
c.2656G>C (p.Val886Leu)
c.2701G>C (p.Val901Leu)
17g.745354C>TCA397503195GEMIN4c.2689G>A (p.Val897Ile)
c.2656G>A (p.Val886Ile)
c.2701G>A (p.Val901Ile)
17g.745355A>CCA397503196GEMIN4c.2688T>G (p.Phe896Leu)
c.2655T>G (p.Phe885Leu)
c.2700T>G (p.Phe900Leu)
17g.745355A>GCA497383733GEMIN4c.2688T>C (p.Phe896=)
c.2655T>C (p.Phe885=)
c.2700T>C (p.Phe900=)
17g.745355A>TCA397503197GEMIN4c.2688T>A (p.Phe896Leu)
c.2655T>A (p.Phe885Leu)
c.2700T>A (p.Phe900Leu)
17g.745356A>CCA397503198GEMIN4c.2687T>G (p.Phe896Cys)
c.2654T>G (p.Phe885Cys)
c.2699T>G (p.Phe900Cys)
17g.745356A>GCA397503200GEMIN4c.2687T>C (p.Phe896Ser)
c.2654T>C (p.Phe885Ser)
c.2699T>C (p.Phe900Ser)
17g.745356A>TCA397503199GEMIN4c.2687T>A (p.Phe896Tyr)
c.2654T>A (p.Phe885Tyr)
c.2699T>A (p.Phe900Tyr)
17g.745357A=CA2242474212GEMIN4c.2686T= (p.Phe896=)
c.2653T= (p.Phe885=)
c.2698T= (p.Phe900=)
17g.745357A>CCA397503201GEMIN4c.2686T>G (p.Phe896Val)
c.2653T>G (p.Phe885Val)
c.2698T>G (p.Phe900Val)
 dbSNP gnomAD v2 gnomAD v4
17g.745357A>GCA397503202GEMIN4c.2686T>C (p.Phe896Leu)
c.2653T>C (p.Phe885Leu)
c.2698T>C (p.Phe900Leu)
17g.745357A>TCA397503203GEMIN4c.2686T>A (p.Phe896Ile)
c.2653T>A (p.Phe885Ile)
c.2698T>A (p.Phe900Ile)
17g.745358C>ACA397503204GEMIN4c.2685G>T (p.Gln895His)
c.2652G>T (p.Gln884His)
c.2697G>T (p.Gln899His)
17g.745358C>GCA397503205GEMIN4c.2685G>C (p.Gln895His)
c.2652G>C (p.Gln884His)
c.2697G>C (p.Gln899His)
17g.745358C>TCA497383734GEMIN4c.2685G>A (p.Gln895=)
c.2652G>A (p.Gln884=)
c.2697G>A (p.Gln899=)
17g.745358_745360delinsCTGCA2242474213GEMIN4c.2683_2685delinsCAG (p.Gln895=)
c.2650_2652delinsCAG (p.Gln884=)
c.2695_2697delinsCAG (p.Gln899=)
17g.745359T>ACA397503206GEMIN4c.2684A>T (p.Gln895Leu)
c.2651A>T (p.Gln884Leu)
c.2696A>T (p.Gln899Leu)
17g.745359T>CCA397503207GEMIN4c.2684A>G (p.Gln895Arg)
c.2651A>G (p.Gln884Arg)
c.2696A>G (p.Gln899Arg)
17g.745359T>GCA397503208GEMIN4c.2684A>C (p.Gln895Pro)
c.2651A>C (p.Gln884Pro)
c.2696A>C (p.Gln899Pro)
17g.745359_745360delCA497383735GEMIN4c.2683_2684del (p.Gln895ValfsTer?)
c.2650_2651del (p.Gln884ValfsTer?)
c.2695_2696del (p.Gln899ValfsTer?)
 dbSNP gnomAD v2 gnomAD v4
17g.745360G>ACA397503209GEMIN4c.2683C>T (p.Gln895Ter)
c.2650C>T (p.Gln884Ter)
c.2695C>T (p.Gln899Ter)
17g.745360G>CCA397503210GEMIN4c.2683C>G (p.Gln895Glu)
c.2650C>G (p.Gln884Glu)
c.2695C>G (p.Gln899Glu)
17g.745360G>TCA397503211GEMIN4c.2683C>A (p.Gln895Lys)
c.2650C>A (p.Gln884Lys)
c.2695C>A (p.Gln899Lys)
17g.745361A>CCA397503212GEMIN4c.2682T>G (p.Ile894Met)
c.2649T>G (p.Ile883Met)
c.2694T>G (p.Ile898Met)
17g.745361A>GCA497383736GEMIN4c.2682T>C (p.Ile894=)
c.2649T>C (p.Ile883=)
c.2694T>C (p.Ile898=)
17g.745361A>TCA497383737GEMIN4c.2682T>A (p.Ile894=)
c.2649T>A (p.Ile883=)
c.2694T>A (p.Ile898=)
17g.745362A>CCA397503214GEMIN4c.2681T>G (p.Ile894Ser)
c.2648T>G (p.Ile883Ser)
c.2693T>G (p.Ile898Ser)
17g.745362A>GCA397503213GEMIN4c.2681T>C (p.Ile894Thr)
c.2648T>C (p.Ile883Thr)
c.2693T>C (p.Ile898Thr)
17g.745362A>TCA397503215GEMIN4c.2681T>A (p.Ile894Asn)
c.2648T>A (p.Ile883Asn)
c.2693T>A (p.Ile898Asn)
17g.745363T>ACA397503216GEMIN4c.2680A>T (p.Ile894Phe)
c.2647A>T (p.Ile883Phe)
c.2692A>T (p.Ile898Phe)
 gnomAD v4
17g.745363T>CCA397503217GEMIN4c.2680A>G (p.Ile894Val)
c.2647A>G (p.Ile883Val)
c.2692A>G (p.Ile898Val)
17g.745363T>GCA397503218GEMIN4c.2680A>C (p.Ile894Leu)
c.2647A>C (p.Ile883Leu)
c.2692A>C (p.Ile898Leu)
17g.745364A>CCA397503219GEMIN4c.2679T>G (p.Tyr893Ter)
c.2646T>G (p.Tyr882Ter)
c.2691T>G (p.Tyr897Ter)
17g.745364A>GCA497383738GEMIN4c.2679T>C (p.Tyr893=)
c.2646T>C (p.Tyr882=)
c.2691T>C (p.Tyr897=)
17g.745364A>TCA397503220GEMIN4c.2679T>A (p.Tyr893Ter)
c.2646T>A (p.Tyr882Ter)
c.2691T>A (p.Tyr897Ter)
17g.745365T>ACA397503223GEMIN4c.2678A>T (p.Tyr893Phe)
c.2645A>T (p.Tyr882Phe)
c.2690A>T (p.Tyr897Phe)
17g.745365T>CCA397503222GEMIN4c.2678A>G (p.Tyr893Cys)
c.2645A>G (p.Tyr882Cys)
c.2690A>G (p.Tyr897Cys)
17g.745365T>GCA397503221GEMIN4c.2678A>C (p.Tyr893Ser)
c.2645A>C (p.Tyr882Ser)
c.2690A>C (p.Tyr897Ser)
17g.745366A>CCA397503224GEMIN4c.2677T>G (p.Tyr893Asp)
c.2644T>G (p.Tyr882Asp)
c.2689T>G (p.Tyr897Asp)
17g.745366A>GCA397503225GEMIN4c.2677T>C (p.Tyr893His)
c.2644T>C (p.Tyr882His)
c.2689T>C (p.Tyr897His)
17g.745366A>TCA397503226GEMIN4c.2677T>A (p.Tyr893Asn)
c.2644T>A (p.Tyr882Asn)
c.2689T>A (p.Tyr897Asn)
17g.745367T>ACA397503227GEMIN4c.2676A>T (p.Glu892Asp)
c.2643A>T (p.Glu881Asp)
c.2688A>T (p.Glu896Asp)
17g.745367T>CCA286713640GEMIN4c.2676A>G (p.Glu892=)
c.2643A>G (p.Glu881=)
c.2688A>G (p.Glu896=)
 dbSNP gnomAD v3 gnomAD v4
17g.745367T>GCA286713641GEMIN4c.2676A>C (p.Glu892Asp)
c.2643A>C (p.Glu881Asp)
c.2688A>C (p.Glu896Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.745367T=CA2242474214GEMIN4c.2676A= (p.Glu892=)
c.2643A= (p.Glu881=)
c.2688A= (p.Glu896=)
17g.745368T>ACA397503228GEMIN4c.2675A>T (p.Glu892Val)
c.2642A>T (p.Glu881Val)
c.2687A>T (p.Glu896Val)
17g.745368T>CCA397503230GEMIN4c.2675A>G (p.Glu892Gly)
c.2642A>G (p.Glu881Gly)
c.2687A>G (p.Glu896Gly)
17g.745368T>GCA397503229GEMIN4c.2675A>C (p.Glu892Ala)
c.2642A>C (p.Glu881Ala)
c.2687A>C (p.Glu896Ala)
17g.745369C>ACA397503231GEMIN4c.2674G>T (p.Glu892Ter)
c.2641G>T (p.Glu881Ter)
c.2686G>T (p.Glu896Ter)
17g.745369C=CA2242474215GEMIN4c.2674G= (p.Glu892=)
c.2641G= (p.Glu881=)
c.2686G= (p.Glu896=)
17g.745369C>GCA397503232GEMIN4c.2674G>C (p.Glu892Gln)
c.2641G>C (p.Glu881Gln)
c.2686G>C (p.Glu896Gln)
 gnomAD v4
17g.745369C>TCA397503233GEMIN4c.2674G>A (p.Glu892Lys)
c.2641G>A (p.Glu881Lys)
c.2686G>A (p.Glu896Lys)
 dbSNP gnomAD v4
17g.745370C>ACA497383740GEMIN4c.2673G>T (p.Leu891=)
c.2640G>T (p.Leu880=)
c.2685G>T (p.Leu895=)
17g.745370C=CA2242474216GEMIN4c.2673G= (p.Leu891=)
c.2640G= (p.Leu880=)
c.2685G= (p.Leu895=)
17g.745370C>GCA497383741GEMIN4c.2673G>C (p.Leu891=)
c.2640G>C (p.Leu880=)
c.2685G>C (p.Leu895=)
 dbSNP
17g.745370C>TCA497383743GEMIN4c.2673G>A (p.Leu891=)
c.2640G>A (p.Leu880=)
c.2685G>A (p.Leu895=)
17g.745371A=CA2242474217GEMIN4c.2672T= (p.Leu891=)
c.2639T= (p.Leu880=)
c.2684T= (p.Leu895=)
17g.745371A>CCA397503234GEMIN4c.2672T>G (p.Leu891Arg)
c.2639T>G (p.Leu880Arg)
c.2684T>G (p.Leu895Arg)
17g.745371A>GCA397503235GEMIN4c.2672T>C (p.Leu891Pro)
c.2639T>C (p.Leu880Pro)
c.2684T>C (p.Leu895Pro)
 dbSNP
17g.745371A>TCA397503236GEMIN4c.2672T>A (p.Leu891Gln)
c.2639T>A (p.Leu880Gln)
c.2684T>A (p.Leu895Gln)
17g.745372G>ACA497383744GEMIN4c.2671C>T (p.Leu891=)
c.2638C>T (p.Leu880=)
c.2683C>T (p.Leu895=)
17g.745372G>CCA397503237GEMIN4c.2671C>G (p.Leu891Val)
c.2638C>G (p.Leu880Val)
c.2683C>G (p.Leu895Val)
 gnomAD v4
17g.745372G>TCA397503238GEMIN4c.2671C>A (p.Leu891Met)
c.2638C>A (p.Leu880Met)
c.2683C>A (p.Leu895Met)
17g.745373G>ACA497383745GEMIN4c.2670C>T (p.Ser890=)
c.2637C>T (p.Ser879=)
c.2682C>T (p.Ser894=)
17g.745373G>CCA397503239GEMIN4c.2670C>G (p.Ser890Arg)
c.2637C>G (p.Ser879Arg)
c.2682C>G (p.Ser894Arg)
17g.745373G>TCA397503240GEMIN4c.2670C>A (p.Ser890Arg)
c.2637C>A (p.Ser879Arg)
c.2682C>A (p.Ser894Arg)
17g.745374C>ACA397503243GEMIN4c.2669G>T (p.Ser890Ile)
c.2636G>T (p.Ser879Ile)
c.2681G>T (p.Ser894Ile)
17g.745374C=CA2242474218GEMIN4c.2669G= (p.Ser890=)
c.2636G= (p.Ser879=)
c.2681G= (p.Ser894=)
17g.745374C>GCA397503242GEMIN4c.2669G>C (p.Ser890Thr)
c.2636G>C (p.Ser879Thr)
c.2681G>C (p.Ser894Thr)
17g.745374C>TCA397503241GEMIN4c.2669G>A (p.Ser890Asn)
c.2636G>A (p.Ser879Asn)
c.2681G>A (p.Ser894Asn)
 dbSNP gnomAD v4
17g.745375T>ACA397503244GEMIN4c.2668A>T (p.Ser890Cys)
c.2635A>T (p.Ser879Cys)
c.2680A>T (p.Ser894Cys)
17g.745375T>CCA397503245GEMIN4c.2668A>G (p.Ser890Gly)
c.2635A>G (p.Ser879Gly)
c.2680A>G (p.Ser894Gly)
17g.745375T>GCA397503246GEMIN4c.2668A>C (p.Ser890Arg)
c.2635A>C (p.Ser879Arg)
c.2680A>C (p.Ser894Arg)
17g.745376A>CCA397503247GEMIN4c.2667T>G (p.Tyr889Ter)
c.2634T>G (p.Tyr878Ter)
c.2679T>G (p.Tyr893Ter)
17g.745376A>GCA497383753GEMIN4c.2667T>C (p.Tyr889=)
c.2634T>C (p.Tyr878=)
c.2679T>C (p.Tyr893=)
 gnomAD v4
17g.745376A>TCA397503248GEMIN4c.2667T>A (p.Tyr889Ter)
c.2634T>A (p.Tyr878Ter)
c.2679T>A (p.Tyr893Ter)
17g.745377T>ACA397503251GEMIN4c.2666A>T (p.Tyr889Phe)
c.2633A>T (p.Tyr878Phe)
c.2678A>T (p.Tyr893Phe)
17g.745377T>CCA397503250GEMIN4c.2666A>G (p.Tyr889Cys)
c.2633A>G (p.Tyr878Cys)
c.2678A>G (p.Tyr893Cys)
 dbSNP gnomAD v4
17g.745377T>GCA397503249GEMIN4c.2666A>C (p.Tyr889Ser)
c.2633A>C (p.Tyr878Ser)
c.2678A>C (p.Tyr893Ser)
17g.745377T=CA2242474219GEMIN4c.2666A= (p.Tyr889=)
c.2633A= (p.Tyr878=)
c.2678A= (p.Tyr893=)
17g.745378A=CA2242474220GEMIN4c.2665T= (p.Tyr889=)
c.2632T= (p.Tyr878=)
c.2677T= (p.Tyr893=)
17g.745378A>CCA397503252GEMIN4c.2665T>G (p.Tyr889Asp)
c.2632T>G (p.Tyr878Asp)
c.2677T>G (p.Tyr893Asp)
17g.745378A>GCA8262379GEMIN4c.2665T>C (p.Tyr889His)
c.2632T>C (p.Tyr878His)
c.2677T>C (p.Tyr893His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745378A>TCA397503253GEMIN4c.2665T>A (p.Tyr889Asn)
c.2632T>A (p.Tyr878Asn)
c.2677T>A (p.Tyr893Asn)
17g.745379A>CCA497383761GEMIN4c.2664T>G (p.Pro888=)
c.2631T>G (p.Pro877=)
c.2676T>G (p.Pro892=)
17g.745379A>GCA497383762GEMIN4c.2664T>C (p.Pro888=)
c.2631T>C (p.Pro877=)
c.2676T>C (p.Pro892=)
 dbSNP
17g.745379A>TCA497383763GEMIN4c.2664T>A (p.Pro888=)
c.2631T>A (p.Pro877=)
c.2676T>A (p.Pro892=)
17g.745380G>ACA8262380GEMIN4c.2663C>T (p.Pro888Leu)
c.2630C>T (p.Pro877Leu)
c.2675C>T (p.Pro892Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745380G>CCA397503254GEMIN4c.2663C>G (p.Pro888Arg)
c.2630C>G (p.Pro877Arg)
c.2675C>G (p.Pro892Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.745380G=CA2242474221GEMIN4c.2663C= (p.Pro888=)
c.2630C= (p.Pro877=)
c.2675C= (p.Pro892=)
17g.745380G>TCA397503255GEMIN4c.2663C>A (p.Pro888His)
c.2630C>A (p.Pro877His)
c.2675C>A (p.Pro892His)
17g.745381G>ACA397503256GEMIN4c.2662C>T (p.Pro888Ser)
c.2629C>T (p.Pro877Ser)
c.2674C>T (p.Pro892Ser)
17g.745381G>CCA397503258GEMIN4c.2662C>G (p.Pro888Ala)
c.2629C>G (p.Pro877Ala)
c.2674C>G (p.Pro892Ala)
17g.745381G>TCA397503257GEMIN4c.2662C>A (p.Pro888Thr)
c.2629C>A (p.Pro877Thr)
c.2674C>A (p.Pro892Thr)
17g.745382G>ACA497383766GEMIN4c.2661C>T (p.Val887=)
c.2628C>T (p.Val876=)
c.2673C>T (p.Val891=)
 gnomAD v4
17g.745382G>CCA497383767GEMIN4c.2661C>G (p.Val887=)
c.2628C>G (p.Val876=)
c.2673C>G (p.Val891=)
17g.745382G=CA2242474222GEMIN4c.2661C= (p.Val887=)
c.2628C= (p.Val876=)
c.2673C= (p.Val891=)
17g.745382G>TCA286713642GEMIN4c.2661C>A (p.Val887=)
c.2628C>A (p.Val876=)
c.2673C>A (p.Val891=)
 dbSNP
17g.745383A>CCA397503259GEMIN4c.2660T>G (p.Val887Gly)
c.2627T>G (p.Val876Gly)
c.2672T>G (p.Val891Gly)
17g.745383A>GCA397503260GEMIN4c.2660T>C (p.Val887Ala)
c.2627T>C (p.Val876Ala)
c.2672T>C (p.Val891Ala)
 gnomAD v4
17g.745383A>TCA397503261GEMIN4c.2660T>A (p.Val887Asp)
c.2627T>A (p.Val876Asp)
c.2672T>A (p.Val891Asp)
17g.745384C>ACA397503262GEMIN4c.2659G>T (p.Val887Phe)
c.2626G>T (p.Val876Phe)
c.2671G>T (p.Val891Phe)
17g.745384C>GCA397503263GEMIN4c.2659G>C (p.Val887Leu)
c.2626G>C (p.Val876Leu)
c.2671G>C (p.Val891Leu)
17g.745384C>TCA397503264GEMIN4c.2659G>A (p.Val887Ile)
c.2626G>A (p.Val876Ile)
c.2671G>A (p.Val891Ile)
17g.745385A>CCA397503265GEMIN4c.2658T>G (p.His886Gln)
c.2625T>G (p.His875Gln)
c.2670T>G (p.His890Gln)
17g.745385A>GCA497383770GEMIN4c.2658T>C (p.His886=)
c.2625T>C (p.His875=)
c.2670T>C (p.His890=)
17g.745385A>TCA397503266GEMIN4c.2658T>A (p.His886Gln)
c.2625T>A (p.His875Gln)
c.2670T>A (p.His890Gln)
17g.745385_745386delinsATCA2242474223GEMIN4c.2657_2658delinsAT (p.His886=)
c.2624_2625delinsAT (p.His875=)
c.2669_2670delinsAT (p.His890=)
17g.745386delCA8262381GEMIN4c.2657del (p.His886LeufsTer17)
c.2624del (p.His875LeufsTer17)
c.2669del (p.His890LeufsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745386T>ACA397503267GEMIN4c.2657A>T (p.His886Leu)
c.2624A>T (p.His875Leu)
c.2669A>T (p.His890Leu)
17g.745386T>CCA8262382GEMIN4c.2657A>G (p.His886Arg)
c.2624A>G (p.His875Arg)
c.2669A>G (p.His890Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745386T>GCA397503268GEMIN4c.2657A>C (p.His886Pro)
c.2624A>C (p.His875Pro)
c.2669A>C (p.His890Pro)
17g.745386T=CA2242474224GEMIN4c.2657A= (p.His886=)
c.2624A= (p.His875=)
c.2669A= (p.His890=)
17g.745387G>ACA397503270GEMIN4c.2656C>T (p.His886Tyr)
c.2623C>T (p.His875Tyr)
c.2668C>T (p.His890Tyr)
17g.745387G>CCA397503271GEMIN4c.2656C>G (p.His886Asp)
c.2623C>G (p.His875Asp)
c.2668C>G (p.His890Asp)
17g.745387G>TCA397503269GEMIN4c.2656C>A (p.His886Asn)
c.2623C>A (p.His875Asn)
c.2668C>A (p.His890Asn)
17g.745388G>ACA497383777GEMIN4c.2655C>T (p.Leu885=)
c.2622C>T (p.Leu874=)
c.2667C>T (p.Leu889=)
 dbSNP
17g.745388G>CCA497383778GEMIN4c.2655C>G (p.Leu885=)
c.2622C>G (p.Leu874=)
c.2667C>G (p.Leu889=)
17g.745388G=CA2242474225GEMIN4c.2655C= (p.Leu885=)
c.2622C= (p.Leu874=)
c.2667C= (p.Leu889=)
17g.745388G>TCA497383776GEMIN4c.2655C>A (p.Leu885=)
c.2622C>A (p.Leu874=)
c.2667C>A (p.Leu889=)
17g.745389A>CCA397503273GEMIN4c.2654T>G (p.Leu885Arg)
c.2621T>G (p.Leu874Arg)
c.2666T>G (p.Leu889Arg)
17g.745389A>GCA397503272GEMIN4c.2654T>C (p.Leu885Pro)
c.2621T>C (p.Leu874Pro)
c.2666T>C (p.Leu889Pro)
17g.745389A>TCA397503274GEMIN4c.2654T>A (p.Leu885His)
c.2621T>A (p.Leu874His)
c.2666T>A (p.Leu889His)
17g.745390G>ACA286713643GEMIN4c.2653C>T (p.Leu885Phe)
c.2620C>T (p.Leu874Phe)
c.2665C>T (p.Leu889Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.745390G>CCA397503276GEMIN4c.2653C>G (p.Leu885Val)
c.2620C>G (p.Leu874Val)
c.2665C>G (p.Leu889Val)
17g.745390G=CA2242474226GEMIN4c.2653C= (p.Leu885=)
c.2620C= (p.Leu874=)
c.2665C= (p.Leu889=)
17g.745390G>TCA397503275GEMIN4c.2653C>A (p.Leu885Ile)
c.2620C>A (p.Leu874Ile)
c.2665C>A (p.Leu889Ile)
17g.745391G>ACA497383784GEMIN4c.2652C>T (p.Leu884=)
c.2619C>T (p.Leu873=)
c.2664C>T (p.Leu888=)
17g.745391G>CCA497383782GEMIN4c.2652C>G (p.Leu884=)
c.2619C>G (p.Leu873=)
c.2664C>G (p.Leu888=)
17g.745391G>TCA497383783GEMIN4c.2652C>A (p.Leu884=)
c.2619C>A (p.Leu873=)
c.2664C>A (p.Leu888=)
17g.745392A=CA2242474227GEMIN4c.2651T= (p.Leu884=)
c.2618T= (p.Leu873=)
c.2663T= (p.Leu888=)
17g.745392A>CCA397503277GEMIN4c.2651T>G (p.Leu884Arg)
c.2618T>G (p.Leu873Arg)
c.2663T>G (p.Leu888Arg)
 gnomAD v4
17g.745392A>GCA8262383GEMIN4c.2651T>C (p.Leu884Pro)
c.2618T>C (p.Leu873Pro)
c.2663T>C (p.Leu888Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745392A>TCA397503278GEMIN4c.2651T>A (p.Leu884His)
c.2618T>A (p.Leu873His)
c.2663T>A (p.Leu888His)
17g.745393G>ACA397503279GEMIN4c.2650C>T (p.Leu884Phe)
c.2617C>T (p.Leu873Phe)
c.2662C>T (p.Leu888Phe)
 gnomAD v4
17g.745393G>CCA397503281GEMIN4c.2650C>G (p.Leu884Val)
c.2617C>G (p.Leu873Val)
c.2662C>G (p.Leu888Val)
 gnomAD v4
17g.745393G>TCA397503280GEMIN4c.2650C>A (p.Leu884Ile)
c.2617C>A (p.Leu873Ile)
c.2662C>A (p.Leu888Ile)
17g.745394C>ACA397503282GEMIN4c.2649G>T (p.Gln883His)
c.2616G>T (p.Gln872His)
c.2661G>T (p.Gln887His)
17g.745394C>GCA397503283GEMIN4c.2649G>C (p.Gln883His)
c.2616G>C (p.Gln872His)
c.2661G>C (p.Gln887His)
 ClinVar gnomAD v4
17g.745394C>TCA497383794GEMIN4c.2649G>A (p.Gln883=)
c.2616G>A (p.Gln872=)
c.2661G>A (p.Gln887=)
17g.745395T>ACA397503284GEMIN4c.2648A>T (p.Gln883Leu)
c.2615A>T (p.Gln872Leu)
c.2660A>T (p.Gln887Leu)
 gnomAD v4
17g.745395T>CCA397503285GEMIN4c.2648A>G (p.Gln883Arg)
c.2615A>G (p.Gln872Arg)
c.2660A>G (p.Gln887Arg)
17g.745395T>GCA397503286GEMIN4c.2648A>C (p.Gln883Pro)
c.2615A>C (p.Gln872Pro)
c.2660A>C (p.Gln887Pro)
17g.745396G>ACA397503287GEMIN4c.2647C>T (p.Gln883Ter)
c.2614C>T (p.Gln872Ter)
c.2659C>T (p.Gln887Ter)
17g.745396G>CCA397503288GEMIN4c.2647C>G (p.Gln883Glu)
c.2614C>G (p.Gln872Glu)
c.2659C>G (p.Gln887Glu)
17g.745396G>TCA397503289GEMIN4c.2647C>A (p.Gln883Lys)
c.2614C>A (p.Gln872Lys)
c.2659C>A (p.Gln887Lys)
17g.745397C>ACA397503290GEMIN4c.2646G>T (p.Lys882Asn)
c.2613G>T (p.Lys871Asn)
c.2658G>T (p.Lys886Asn)
17g.745397C>GCA397503291GEMIN4c.2646G>C (p.Lys882Asn)
c.2613G>C (p.Lys871Asn)
c.2658G>C (p.Lys886Asn)
 gnomAD v4
17g.745397C>TCA497383807GEMIN4c.2646G>A (p.Lys882=)
c.2613G>A (p.Lys871=)
c.2658G>A (p.Lys886=)
17g.745398T>ACA397503294GEMIN4c.2645A>T (p.Lys882Met)
c.2612A>T (p.Lys871Met)
c.2657A>T (p.Lys886Met)
17g.745398T>CCA397503293GEMIN4c.2645A>G (p.Lys882Arg)
c.2612A>G (p.Lys871Arg)
c.2657A>G (p.Lys886Arg)
17g.745398T>GCA397503292GEMIN4c.2645A>C (p.Lys882Thr)
c.2612A>C (p.Lys871Thr)
c.2657A>C (p.Lys886Thr)
17g.745399T>ACA397503295GEMIN4c.2644A>T (p.Lys882Ter)
c.2611A>T (p.Lys871Ter)
c.2656A>T (p.Lys886Ter)
17g.745399T>CCA397503296GEMIN4c.2644A>G (p.Lys882Glu)
c.2611A>G (p.Lys871Glu)
c.2656A>G (p.Lys886Glu)
17g.745399T>GCA397503297GEMIN4c.2644A>C (p.Lys882Gln)
c.2611A>C (p.Lys871Gln)
c.2656A>C (p.Lys886Gln)
17g.745400C>ACA397503298GEMIN4c.2643G>T (p.Glu881Asp)
c.2610G>T (p.Glu870Asp)
c.2655G>T (p.Glu885Asp)
17g.745400C>GCA397503299GEMIN4c.2643G>C (p.Glu881Asp)
c.2610G>C (p.Glu870Asp)
c.2655G>C (p.Glu885Asp)
17g.745400C>TCA497383816GEMIN4c.2643G>A (p.Glu881=)
c.2610G>A (p.Glu870=)
c.2655G>A (p.Glu885=)
 gnomAD v4
17g.745401T>ACA397503300GEMIN4c.2642A>T (p.Glu881Val)
c.2609A>T (p.Glu870Val)
c.2654A>T (p.Glu885Val)
 gnomAD v4
17g.745401T>CCA397503301GEMIN4c.2642A>G (p.Glu881Gly)
c.2609A>G (p.Glu870Gly)
c.2654A>G (p.Glu885Gly)
17g.745401T>GCA397503302GEMIN4c.2642A>C (p.Glu881Ala)
c.2609A>C (p.Glu870Ala)
c.2654A>C (p.Glu885Ala)
17g.745402C>ACA397503303GEMIN4c.2641G>T (p.Glu881Ter)
c.2608G>T (p.Glu870Ter)
c.2653G>T (p.Glu885Ter)
 gnomAD v4
17g.745402C>GCA397503304GEMIN4c.2641G>C (p.Glu881Gln)
c.2608G>C (p.Glu870Gln)
c.2653G>C (p.Glu885Gln)
17g.745402C>TCA397503305GEMIN4c.2641G>A (p.Glu881Lys)
c.2608G>A (p.Glu870Lys)
c.2653G>A (p.Glu885Lys)
17g.745403C>ACA497383823GEMIN4c.2640G>T (p.Leu880=)
c.2607G>T (p.Leu869=)
c.2652G>T (p.Leu884=)
17g.745403C>GCA497383824GEMIN4c.2640G>C (p.Leu880=)
c.2607G>C (p.Leu869=)
c.2652G>C (p.Leu884=)
17g.745403C>TCA497383825GEMIN4c.2640G>A (p.Leu880=)
c.2607G>A (p.Leu869=)
c.2652G>A (p.Leu884=)
17g.745404A>CCA397503307GEMIN4c.2639T>G (p.Leu880Arg)
c.2606T>G (p.Leu869Arg)
c.2651T>G (p.Leu884Arg)
17g.745404A>GCA397503308GEMIN4c.2639T>C (p.Leu880Pro)
c.2606T>C (p.Leu869Pro)
c.2651T>C (p.Leu884Pro)
17g.745404A>TCA397503306GEMIN4c.2639T>A (p.Leu880Gln)
c.2606T>A (p.Leu869Gln)
c.2651T>A (p.Leu884Gln)
17g.745405G>ACA497383830GEMIN4c.2638C>T (p.Leu880=)
c.2605C>T (p.Leu869=)
c.2650C>T (p.Leu884=)
 dbSNP gnomAD v2 gnomAD v4
17g.745405G>CCA397503309GEMIN4c.2638C>G (p.Leu880Val)
c.2605C>G (p.Leu869Val)
c.2650C>G (p.Leu884Val)
17g.745405G=CA2242474228GEMIN4c.2638C= (p.Leu880=)
c.2605C= (p.Leu869=)
c.2650C= (p.Leu884=)
17g.745405G>TCA397503310GEMIN4c.2638C>A (p.Leu880Met)
c.2605C>A (p.Leu869Met)
c.2650C>A (p.Leu884Met)
17g.745406C>ACA497383835GEMIN4c.2637G>T (p.Leu879=)
c.2604G>T (p.Leu868=)
c.2649G>T (p.Leu883=)
17g.745406C>GCA497383836GEMIN4c.2637G>C (p.Leu879=)
c.2604G>C (p.Leu868=)
c.2649G>C (p.Leu883=)
 gnomAD v4
17g.745406C>TCA497383834GEMIN4c.2637G>A (p.Leu879=)
c.2604G>A (p.Leu868=)
c.2649G>A (p.Leu883=)
17g.745407A>CCA397503311GEMIN4c.2636T>G (p.Leu879Arg)
c.2603T>G (p.Leu868Arg)
c.2648T>G (p.Leu883Arg)
 gnomAD v4
17g.745407A>GCA397503312GEMIN4c.2636T>C (p.Leu879Pro)
c.2603T>C (p.Leu868Pro)
c.2648T>C (p.Leu883Pro)
17g.745407A>TCA397503313GEMIN4c.2636T>A (p.Leu879Gln)
c.2603T>A (p.Leu868Gln)
c.2648T>A (p.Leu883Gln)
17g.745408G>ACA497383840GEMIN4c.2635C>T (p.Leu879=)
c.2602C>T (p.Leu868=)
c.2647C>T (p.Leu883=)
 gnomAD v4
17g.745408G>CCA397503314GEMIN4c.2635C>G (p.Leu879Val)
c.2602C>G (p.Leu868Val)
c.2647C>G (p.Leu883Val)
 gnomAD v4
17g.745408G>TCA397503315GEMIN4c.2635C>A (p.Leu879Met)
c.2602C>A (p.Leu868Met)
c.2647C>A (p.Leu883Met)
17g.745409T>ACA397503316GEMIN4c.2634A>T (p.Arg878Ser)
c.2601A>T (p.Arg867Ser)
c.2646A>T (p.Arg882Ser)
17g.745409T>CCA497383844GEMIN4c.2634A>G (p.Arg878=)
c.2601A>G (p.Arg867=)
c.2646A>G (p.Arg882=)
17g.745409T>GCA397503317GEMIN4c.2634A>C (p.Arg878Ser)
c.2601A>C (p.Arg867Ser)
c.2646A>C (p.Arg882Ser)
17g.745410C>ACA397503318GEMIN4c.2633G>T (p.Arg878Ile)
c.2600G>T (p.Arg867Ile)
c.2645G>T (p.Arg882Ile)
17g.745410C>GCA397503319GEMIN4c.2633G>C (p.Arg878Thr)
c.2600G>C (p.Arg867Thr)
c.2645G>C (p.Arg882Thr)
17g.745410C>TCA397503320GEMIN4c.2633G>A (p.Arg878Lys)
c.2600G>A (p.Arg867Lys)
c.2645G>A (p.Arg882Lys)
17g.745411T>ACA397503322GEMIN4c.2632A>T (p.Arg878Ter)
c.2599A>T (p.Arg867Ter)
c.2644A>T (p.Arg882Ter)
17g.745411T>CCA397503321GEMIN4c.2632A>G (p.Arg878Gly)
c.2599A>G (p.Arg867Gly)
c.2644A>G (p.Arg882Gly)
17g.745411T>GCA497383851GEMIN4c.2632A>C (p.Arg878=)
c.2599A>C (p.Arg867=)
c.2644A>C (p.Arg882=)
17g.745412C>ACA397503323GEMIN4c.2631G>T (p.Arg877Ser)
c.2598G>T (p.Arg866Ser)
c.2643G>T (p.Arg881Ser)
 gnomAD v4
17g.745412C>GCA397503324GEMIN4c.2631G>C (p.Arg877Ser)
c.2598G>C (p.Arg866Ser)
c.2643G>C (p.Arg881Ser)
17g.745412C>TCA497383857GEMIN4c.2631G>A (p.Arg877=)
c.2598G>A (p.Arg866=)
c.2643G>A (p.Arg881=)
17g.745413C>ACA397503325GEMIN4c.2630G>T (p.Arg877Met)
c.2597G>T (p.Arg866Met)
c.2642G>T (p.Arg881Met)
17g.745413C>GCA397503326GEMIN4c.2630G>C (p.Arg877Thr)
c.2597G>C (p.Arg866Thr)
c.2642G>C (p.Arg881Thr)
17g.745413C>TCA397503327GEMIN4c.2630G>A (p.Arg877Lys)
c.2597G>A (p.Arg866Lys)
c.2642G>A (p.Arg881Lys)
17g.745414T>ACA397503328GEMIN4c.2629A>T (p.Arg877Trp)
c.2596A>T (p.Arg866Trp)
c.2641A>T (p.Arg881Trp)
17g.745414T>CCA8262384GEMIN4c.2629A>G (p.Arg877Gly)
c.2596A>G (p.Arg866Gly)
c.2641A>G (p.Arg881Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.745414T>GCA497383864GEMIN4c.2629A>C (p.Arg877=)
c.2596A>C (p.Arg866=)
c.2641A>C (p.Arg881=)
17g.745414T=CA2242474229GEMIN4c.2629A= (p.Arg877=)
c.2596A= (p.Arg866=)
c.2641A= (p.Arg881=)
17g.745415G>ACA497383866GEMIN4c.2628C>T (p.Thr876=)
c.2595C>T (p.Thr865=)
c.2640C>T (p.Thr880=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.745415G>CCA497383867GEMIN4c.2628C>G (p.Thr876=)
c.2595C>G (p.Thr865=)
c.2640C>G (p.Thr880=)
 dbSNP
17g.745415G=CA2242474230GEMIN4c.2628C= (p.Thr876=)
c.2595C= (p.Thr865=)
c.2640C= (p.Thr880=)
17g.745415G>TCA497383868GEMIN4c.2628C>A (p.Thr876=)
c.2595C>A (p.Thr865=)
c.2640C>A (p.Thr880=)
17g.745416G>ACA397503329GEMIN4c.2627C>T (p.Thr876Ile)
c.2594C>T (p.Thr865Ile)
c.2639C>T (p.Thr880Ile)
 gnomAD v4
17g.745416G>CCA397503330GEMIN4c.2627C>G (p.Thr876Ser)
c.2594C>G (p.Thr865Ser)
c.2639C>G (p.Thr880Ser)
 gnomAD v4
17g.745416G>TCA397503331GEMIN4c.2627C>A (p.Thr876Asn)
c.2594C>A (p.Thr865Asn)
c.2639C>A (p.Thr880Asn)
17g.745417T>ACA397503332GEMIN4c.2626A>T (p.Thr876Ser)
c.2593A>T (p.Thr865Ser)
c.2638A>T (p.Thr880Ser)
17g.745417T>CCA397503333GEMIN4c.2626A>G (p.Thr876Ala)
c.2593A>G (p.Thr865Ala)
c.2638A>G (p.Thr880Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.745417T>GCA397503334GEMIN4c.2626A>C (p.Thr876Pro)
c.2593A>C (p.Thr865Pro)
c.2638A>C (p.Thr880Pro)
17g.745417T=CA2242474231GEMIN4c.2626A= (p.Thr876=)
c.2593A= (p.Thr865=)
c.2638A= (p.Thr880=)

Number of alleles fetched