Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.132892148G>ACA360928202AFF4c.2637+16C>T (n.2637+16C>T)
c.2653C>T (p.Pro885Ser)
c.1503+16C>T (n.1503+16C>T)
c.2550+16C>T (n.2550+16C>T)
 gnomAD v4
5g.132892148G>CCA360928206AFF4c.2637+16C>G (n.2637+16C>G)
c.2653C>G (p.Pro885Ala)
c.1503+16C>G (n.1503+16C>G)
c.2550+16C>G (n.2550+16C>G)
5g.132892148G>TCA360928204AFF4c.2637+16C>A (n.2637+16C>A)
c.2653C>A (p.Pro885Thr)
c.1503+16C>A (n.1503+16C>A)
c.2550+16C>A (n.2550+16C>A)
5g.132892148_132892149delinsGCCA1583372443AFF4c.2637+15_2637+16delinsGC (n.2637+15_2637+16delinsGC)
c.2652_2653delinsGC (p.Gly884=)
c.1503+15_1503+16delinsGC (n.1503+15_1503+16delinsGC)
c.2550+15_2550+16delinsGC (n.2550+15_2550+16delinsGC)
5g.132892149C>TCA2675252571AFF4c.2637+15G>A (n.2637+15G>A)
c.2652G>A (p.Gly884=)
c.1503+15G>A (n.1503+15G>A)
c.2550+15G>A (n.2550+15G>A)
 gnomAD v4
5g.132892153delCA3408888AFF4c.2637+15del (n.2637+15del)
c.2652del (p.Pro885LeufsTer12)
c.1503+15del (n.1503+15del)
c.2550+15del (n.2550+15del)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892150C>ACA360928207AFF4c.2637+14G>T (n.2637+14G>T)
c.2651G>T (p.Gly884Val)
c.1503+14G>T (n.1503+14G>T)
c.2550+14G>T (n.2550+14G>T)
5g.132892150C=CA1583372444AFF4c.2637+14G= (n.2637+14G=)
c.2651G= (p.Gly884=)
c.1503+14G= (n.1503+14G=)
c.2550+14G= (n.2550+14G=)
5g.132892150C>GCA360928208AFF4c.2637+14G>C (n.2637+14G>C)
c.2651G>C (p.Gly884Ala)
c.1503+14G>C (n.1503+14G>C)
c.2550+14G>C (n.2550+14G>C)
5g.132892150C>TCA360928209AFF4c.2637+14G>A (n.2637+14G>A)
c.2651G>A (p.Gly884Glu)
c.1503+14G>A (n.1503+14G>A)
c.2550+14G>A (n.2550+14G>A)
 dbSNP gnomAD v4
5g.132892151C>ACA360928210AFF4c.2637+13G>T (n.2637+13G>T)
c.2650G>T (p.Gly884Trp)
c.1503+13G>T (n.1503+13G>T)
c.2550+13G>T (n.2550+13G>T)
5g.132892151C=CA1583372445AFF4c.2637+13G= (n.2637+13G=)
c.2650G= (p.Gly884=)
c.1503+13G= (n.1503+13G=)
c.2550+13G= (n.2550+13G=)
5g.132892151C>GCA360928211AFF4c.2637+13G>C (n.2637+13G>C)
c.2650G>C (p.Gly884Arg)
c.1503+13G>C (n.1503+13G>C)
c.2550+13G>C (n.2550+13G>C)
5g.132892151C>TCA127270027AFF4c.2637+13G>A (n.2637+13G>A)
c.2650G>A (p.Gly884Arg)
c.1503+13G>A (n.1503+13G>A)
c.2550+13G>A (n.2550+13G>A)
 dbSNP
5g.132892152C>ACA360928215AFF4c.2637+12G>T (n.2637+12G>T)
c.2649G>T (p.Trp883Cys)
c.1503+12G>T (n.1503+12G>T)
c.2550+12G>T (n.2550+12G>T)
5g.132892152C>GCA360928222AFF4c.2637+12G>C (n.2637+12G>C)
c.2649G>C (p.Trp883Cys)
c.1503+12G>C (n.1503+12G>C)
c.2550+12G>C (n.2550+12G>C)
5g.132892152C>TCA360928224AFF4c.2637+12G>A (n.2637+12G>A)
c.2649G>A (p.Trp883Ter)
c.1503+12G>A (n.1503+12G>A)
c.2550+12G>A (n.2550+12G>A)
5g.132892153C>ACA360928231AFF4c.2637+11G>T (n.2637+11G>T)
c.2648G>T (p.Trp883Leu)
c.1503+11G>T (n.1503+11G>T)
c.2550+11G>T (n.2550+11G>T)
5g.132892153C>GCA360928229AFF4c.2637+11G>C (n.2637+11G>C)
c.2648G>C (p.Trp883Ser)
c.1503+11G>C (n.1503+11G>C)
c.2550+11G>C (n.2550+11G>C)
 gnomAD v4
5g.132892153C>TCA360928227AFF4c.2637+11G>A (n.2637+11G>A)
c.2648G>A (p.Trp883Ter)
c.1503+11G>A (n.1503+11G>A)
c.2550+11G>A (n.2550+11G>A)
 gnomAD v4
5g.132892154A>CCA360928233AFF4c.2637+10T>G (n.2637+10T>G)
c.2647T>G (p.Trp883Gly)
c.1503+10T>G (n.1503+10T>G)
c.2550+10T>G (n.2550+10T>G)
5g.132892154A>GCA360928235AFF4c.2637+10T>C (n.2637+10T>C)
c.2647T>C (p.Trp883Arg)
c.1503+10T>C (n.1503+10T>C)
c.2550+10T>C (n.2550+10T>C)
5g.132892154A>TCA360928236AFF4c.2637+10T>A (n.2637+10T>A)
c.2647T>A (p.Trp883Arg)
c.1503+10T>A (n.1503+10T>A)
c.2550+10T>A (n.2550+10T>A)
5g.132892155A=CA1583372446AFF4c.2637+9T= (n.2637+9T=)
c.2646T= (p.Cys882=)
c.1503+9T= (n.1503+9T=)
c.2550+9T= (n.2550+9T=)
5g.132892155A>CCA360928238AFF4c.2637+9T>G (n.2637+9T>G)
c.2646T>G (p.Cys882Trp)
c.1503+9T>G (n.1503+9T>G)
c.2550+9T>G (n.2550+9T>G)
5g.132892155A>GCA3408889AFF4c.2637+9T>C (n.2637+9T>C)
c.2646T>C (p.Cys882=)
c.1503+9T>C (n.1503+9T>C)
c.2550+9T>C (n.2550+9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892155A>TCA360928241AFF4c.2637+9T>A (n.2637+9T>A)
c.2646T>A (p.Cys882Ter)
c.1503+9T>A (n.1503+9T>A)
c.2550+9T>A (n.2550+9T>A)
5g.132892156C>ACA360928244AFF4c.2637+8G>T (n.2637+8G>T)
c.2645G>T (p.Cys882Phe)
c.1503+8G>T (n.1503+8G>T)
c.2550+8G>T (n.2550+8G>T)
 ClinVar
5g.132892156C=CA1583372447AFF4c.2637+8G= (n.2637+8G=)
c.2645G= (p.Cys882=)
c.1503+8G= (n.1503+8G=)
c.2550+8G= (n.2550+8G=)
5g.132892156C>GCA360928246AFF4c.2637+8G>C (n.2637+8G>C)
c.2645G>C (p.Cys882Ser)
c.1503+8G>C (n.1503+8G>C)
c.2550+8G>C (n.2550+8G>C)
5g.132892156C>TCA3408890AFF4c.2637+8G>A (n.2637+8G>A)
c.2645G>A (p.Cys882Tyr)
c.1503+8G>A (n.1503+8G>A)
c.2550+8G>A (n.2550+8G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892157A=CA1583372448AFF4c.2637+7T= (n.2637+7T=)
c.2644T= (p.Cys882=)
c.1503+7T= (n.1503+7T=)
c.2550+7T= (n.2550+7T=)
5g.132892157A>CCA3408891AFF4c.2637+7T>G (n.2637+7T>G)
c.2644T>G (p.Cys882Gly)
c.1503+7T>G (n.1503+7T>G)
c.2550+7T>G (n.2550+7T>G)
 dbSNP ExAC gnomAD v2
5g.132892157A>GCA360928250AFF4c.2637+7T>C (n.2637+7T>C)
c.2644T>C (p.Cys882Arg)
c.1503+7T>C (n.1503+7T>C)
c.2550+7T>C (n.2550+7T>C)
5g.132892157A>TCA360928252AFF4c.2637+7T>A (n.2637+7T>A)
c.2644T>A (p.Cys882Ser)
c.1503+7T>A (n.1503+7T>A)
c.2550+7T>A (n.2550+7T>A)
5g.132892158C>ACA360928254AFF4c.2637+6G>T (n.2637+6G>T)
c.2643G>T (p.Lys881Asn)
c.1503+6G>T (n.1503+6G>T)
c.2550+6G>T (n.2550+6G>T)
5g.132892158C>GCA360928256AFF4c.2637+6G>C (n.2637+6G>C)
c.2643G>C (p.Lys881Asn)
c.1503+6G>C (n.1503+6G>C)
c.2550+6G>C (n.2550+6G>C)
5g.132892159T>ACA360928258AFF4c.2637+5A>T (n.2637+5A>T)
c.2642A>T (p.Lys881Met)
c.1503+5A>T (n.1503+5A>T)
c.2550+5A>T (n.2550+5A>T)
5g.132892159T>CCA360928259AFF4c.2637+5A>G (n.2637+5A>G)
c.2642A>G (p.Lys881Arg)
c.1503+5A>G (n.1503+5A>G)
c.2550+5A>G (n.2550+5A>G)
5g.132892159T>GCA360928260AFF4c.2637+5A>C (n.2637+5A>C)
c.2642A>C (p.Lys881Thr)
c.1503+5A>C (n.1503+5A>C)
c.2550+5A>C (n.2550+5A>C)
5g.132892160_132892161delCA2675252572AFF4c.2637+4_2637+5del (n.2637+4_2637+5del)
c.2641_2642del (p.Lys881ValfsTer8)
c.1503+4_1503+5del (n.1503+4_1503+5del)
c.2550+4_2550+5del (n.2550+4_2550+5del)
 gnomAD v4
5g.132892160T>ACA360928263AFF4c.2637+4A>T (n.2637+4A>T)
c.2641A>T (p.Lys881Ter)
c.1503+4A>T (n.1503+4A>T)
c.2550+4A>T (n.2550+4A>T)
5g.132892160T>CCA360928270AFF4c.2637+4A>G (n.2637+4A>G)
c.2641A>G (p.Lys881Glu)
c.1503+4A>G (n.1503+4A>G)
c.2550+4A>G (n.2550+4A>G)
 gnomAD v4
5g.132892160T>GCA360928272AFF4c.2637+4A>C (n.2637+4A>C)
c.2641A>C (p.Lys881Gln)
c.1503+4A>C (n.1503+4A>C)
c.2550+4A>C (n.2550+4A>C)
5g.132892160_132892161insCAAACA645566243AFF4c.2637+3_2637+4insTTTG (n.2637+3_2637+4insTTTG)
c.2640_2641insTTTG (p.Lys881PhefsTer10)
c.1503+3_1503+4insTTTG (n.1503+3_1503+4insTTTG)
c.2550+3_2550+4insTTTG (n.2550+3_2550+4insTTTG)
 COSMIC
5g.132892161T>CCA1583372450AFF4c.2637+3A>G (n.2637+3A>G)
c.2640A>G (p.Val880=)
c.1503+3A>G (n.1503+3A>G)
c.2550+3A>G (n.2550+3A>G)
 dbSNP
5g.132892161T=CA1583372449AFF4c.2637+3A= (n.2637+3A=)
c.2640A= (p.Val880=)
c.1503+3A= (n.1503+3A=)
c.2550+3A= (n.2550+3A=)
5g.132892162A>CCA360928274AFF4c.2637+2T>G (n.2637+2T>G)
c.2639T>G (p.Val880Gly)
c.1503+2T>G (n.1503+2T>G)
c.2550+2T>G (n.2550+2T>G)
5g.132892162A>GCA360928275AFF4c.2637+2T>C (n.2637+2T>C)
c.2639T>C (p.Val880Ala)
c.1503+2T>C (n.1503+2T>C)
c.2550+2T>C (n.2550+2T>C)
5g.132892162A>TCA360928277AFF4c.2637+2T>A (n.2637+2T>A)
c.2639T>A (p.Val880Glu)
c.1503+2T>A (n.1503+2T>A)
c.2550+2T>A (n.2550+2T>A)
5g.132892163C>ACA360928279AFF4c.2637+1G>T (n.2637+1G>T)
c.2638G>T (p.Val880Leu)
c.1503+1G>T (n.1503+1G>T)
c.2550+1G>T (n.2550+1G>T)
5g.132892163C=CA1583372451AFF4c.2637+1G= (n.2637+1G=)
c.2638G= (p.Val880=)
c.1503+1G= (n.1503+1G=)
c.2550+1G= (n.2550+1G=)
5g.132892163C>GCA360928282AFF4c.2637+1G>C (n.2637+1G>C)
c.2638G>C (p.Val880Leu)
c.1503+1G>C (n.1503+1G>C)
c.2550+1G>C (n.2550+1G>C)
5g.132892163C>TCA360928287AFF4c.2637+1G>A (n.2637+1G>A)
c.2638G>A (p.Val880Ile)
c.1503+1G>A (n.1503+1G>A)
c.2550+1G>A (n.2550+1G>A)
 dbSNP gnomAD v2 gnomAD v4
5g.132892163_132892166delCA645566244AFF4c.2635_2637+1del
c.2635_2638del (p.Lys879Ter)
c.1501_1503+1del
c.2548_2550+1del
 COSMIC
5g.132892164C>ACA360928290AFF4c.2637G>T (p.Lys879Asn)
c.1503G>T (p.Lys501Asn)
c.2550G>T (p.Lys850Asn)
5g.132892164C>GCA360928289AFF4c.2637G>C (p.Lys879Asn)
c.1503G>C (p.Lys501Asn)
c.2550G>C (p.Lys850Asn)
5g.132892164C>TCA446498791AFF4c.2637G>A (p.Lys879=)
c.1503G>A (p.Lys501=)
c.2550G>A (p.Lys850=)
5g.132892165T>ACA360928292AFF4c.2636A>T (p.Lys879Met)
c.1502A>T (p.Lys501Met)
c.2549A>T (p.Lys850Met)
5g.132892165T>CCA360928294AFF4c.2636A>G (p.Lys879Arg)
c.1502A>G (p.Lys501Arg)
c.2549A>G (p.Lys850Arg)
5g.132892165T>GCA360928296AFF4c.2636A>C (p.Lys879Thr)
c.1502A>C (p.Lys501Thr)
c.2549A>C (p.Lys850Thr)
5g.132892166T>ACA360928298AFF4c.2635A>T (p.Lys879Ter)
c.1501A>T (p.Lys501Ter)
c.2548A>T (p.Lys850Ter)
5g.132892166T>CCA360928300AFF4c.2635A>G (p.Lys879Glu)
c.1501A>G (p.Lys501Glu)
c.2548A>G (p.Lys850Glu)
5g.132892166T>GCA360928301AFF4c.2635A>C (p.Lys879Gln)
c.1501A>C (p.Lys501Gln)
c.2548A>C (p.Lys850Gln)
5g.132892167A>CCA446498795AFF4c.2634T>G (p.Val878=)
c.1500T>G (p.Val500=)
c.2547T>G (p.Val849=)
5g.132892167A>GCA446498796AFF4c.2634T>C (p.Val878=)
c.1500T>C (p.Val500=)
c.2547T>C (p.Val849=)
5g.132892167A>TCA446498798AFF4c.2634T>A (p.Val878=)
c.1500T>A (p.Val500=)
c.2547T>A (p.Val849=)
5g.132892168A>CCA360928302AFF4c.2633T>G (p.Val878Gly)
c.1499T>G (p.Val500Gly)
c.2546T>G (p.Val849Gly)
5g.132892168A>GCA360928303AFF4c.2633T>C (p.Val878Ala)
c.1499T>C (p.Val500Ala)
c.2546T>C (p.Val849Ala)
5g.132892168A>TCA360928305AFF4c.2633T>A (p.Val878Asp)
c.1499T>A (p.Val500Asp)
c.2546T>A (p.Val849Asp)
5g.132892169C>ACA360928307AFF4c.2632G>T (p.Val878Phe)
c.1498G>T (p.Val500Phe)
c.2545G>T (p.Val849Phe)
5g.132892169C>GCA360928309AFF4c.2632G>C (p.Val878Leu)
c.1498G>C (p.Val500Leu)
c.2545G>C (p.Val849Leu)
5g.132892169C>TCA360928310AFF4c.2632G>A (p.Val878Ile)
c.1498G>A (p.Val500Ile)
c.2545G>A (p.Val849Ile)
5g.132892170C>ACA360928314AFF4c.2631G>T (p.Glu877Asp)
c.1497G>T (p.Glu499Asp)
c.2544G>T (p.Glu848Asp)
5g.132892170C>GCA360928312AFF4c.2631G>C (p.Glu877Asp)
c.1497G>C (p.Glu499Asp)
c.2544G>C (p.Glu848Asp)
5g.132892170C>TCA446498800AFF4c.2631G>A (p.Glu877=)
c.1497G>A (p.Glu499=)
c.2544G>A (p.Glu848=)
5g.132892171T>ACA360928315AFF4c.2630A>T (p.Glu877Val)
c.1496A>T (p.Glu499Val)
c.2543A>T (p.Glu848Val)
5g.132892171T>CCA360928317AFF4c.2630A>G (p.Glu877Gly)
c.1496A>G (p.Glu499Gly)
c.2543A>G (p.Glu848Gly)
5g.132892171T>GCA360928316AFF4c.2630A>C (p.Glu877Ala)
c.1496A>C (p.Glu499Ala)
c.2543A>C (p.Glu848Ala)
5g.132892172C>ACA360928319AFF4c.2629G>T (p.Glu877Ter)
c.1495G>T (p.Glu499Ter)
c.2542G>T (p.Glu848Ter)
5g.132892172C>GCA360928321AFF4c.2629G>C (p.Glu877Gln)
c.1495G>C (p.Glu499Gln)
c.2542G>C (p.Glu848Gln)
5g.132892172C>TCA360928322AFF4c.2629G>A (p.Glu877Lys)
c.1495G>A (p.Glu499Lys)
c.2542G>A (p.Glu848Lys)
5g.132892173C>ACA360928324AFF4c.2628G>T (p.Lys876Asn)
c.1494G>T (p.Lys498Asn)
c.2541G>T (p.Lys847Asn)
5g.132892173C>GCA360928325AFF4c.2628G>C (p.Lys876Asn)
c.1494G>C (p.Lys498Asn)
c.2541G>C (p.Lys847Asn)
5g.132892173C>TCA446498804AFF4c.2628G>A (p.Lys876=)
c.1494G>A (p.Lys498=)
c.2541G>A (p.Lys847=)
5g.132892174T>ACA360928327AFF4c.2627A>T (p.Lys876Met)
c.1493A>T (p.Lys498Met)
c.2540A>T (p.Lys847Met)
 gnomAD v4
5g.132892174T>CCA360928329AFF4c.2627A>G (p.Lys876Arg)
c.1493A>G (p.Lys498Arg)
c.2540A>G (p.Lys847Arg)
 dbSNP gnomAD v4
5g.132892174T>GCA360928331AFF4c.2627A>C (p.Lys876Thr)
c.1493A>C (p.Lys498Thr)
c.2540A>C (p.Lys847Thr)
5g.132892174T=CA1583372452AFF4c.2627A= (p.Lys876=)
c.1493A= (p.Lys498=)
c.2540A= (p.Lys847=)
5g.132892175T>ACA360928333AFF4c.2626A>T (p.Lys876Ter)
c.1492A>T (p.Lys498Ter)
c.2539A>T (p.Lys847Ter)
5g.132892175T>CCA360928335AFF4c.2626A>G (p.Lys876Glu)
c.1492A>G (p.Lys498Glu)
c.2539A>G (p.Lys847Glu)
 gnomAD v4
5g.132892175T>GCA360928337AFF4c.2626A>C (p.Lys876Gln)
c.1492A>C (p.Lys498Gln)
c.2539A>C (p.Lys847Gln)
5g.132892176G>ACA446498805AFF4c.2625C>T (p.Ser875=)
c.1491C>T (p.Ser497=)
c.2538C>T (p.Ser846=)
5g.132892176G>CCA446498806AFF4c.2625C>G (p.Ser875=)
c.1491C>G (p.Ser497=)
c.2538C>G (p.Ser846=)
5g.132892176G>TCA446498808AFF4c.2625C>A (p.Ser875=)
c.1491C>A (p.Ser497=)
c.2538C>A (p.Ser846=)
5g.132892177G>ACA360928347AFF4c.2624C>T (p.Ser875Phe)
c.1490C>T (p.Ser497Phe)
c.2537C>T (p.Ser846Phe)
 ClinVar dbSNP
5g.132892177G>CCA360928343AFF4c.2624C>G (p.Ser875Cys)
c.1490C>G (p.Ser497Cys)
c.2537C>G (p.Ser846Cys)
 dbSNP
5g.132892177G=CA1583372453AFF4c.2624C= (p.Ser875=)
c.1490C= (p.Ser497=)
c.2537C= (p.Ser846=)
5g.132892177G>TCA360928345AFF4c.2624C>A (p.Ser875Tyr)
c.1490C>A (p.Ser497Tyr)
c.2537C>A (p.Ser846Tyr)
5g.132892178A=CA1583372454AFF4c.2623T= (p.Ser875=)
c.1489T= (p.Ser497=)
c.2536T= (p.Ser846=)
5g.132892178A>CCA127270034AFF4c.2623T>G (p.Ser875Ala)
c.1489T>G (p.Ser497Ala)
c.2536T>G (p.Ser846Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892178A>GCA360928349AFF4c.2623T>C (p.Ser875Pro)
c.1489T>C (p.Ser497Pro)
c.2536T>C (p.Ser846Pro)
5g.132892178A>TCA360928351AFF4c.2623T>A (p.Ser875Thr)
c.1489T>A (p.Ser497Thr)
c.2536T>A (p.Ser846Thr)
5g.132892179G>ACA446498810AFF4c.2622C>T (p.Ser874=)
c.1488C>T (p.Ser496=)
c.2535C>T (p.Ser845=)
5g.132892179G>CCA360928353AFF4c.2622C>G (p.Ser874Arg)
c.1488C>G (p.Ser496Arg)
c.2535C>G (p.Ser845Arg)
5g.132892179G>TCA360928354AFF4c.2622C>A (p.Ser874Arg)
c.1488C>A (p.Ser496Arg)
c.2535C>A (p.Ser845Arg)
5g.132892180C>ACA360928355AFF4c.2621G>T (p.Ser874Ile)
c.1487G>T (p.Ser496Ile)
c.2534G>T (p.Ser845Ile)
5g.132892180C>GCA360928356AFF4c.2621G>C (p.Ser874Thr)
c.1487G>C (p.Ser496Thr)
c.2534G>C (p.Ser845Thr)
5g.132892180C>TCA360928359AFF4c.2621G>A (p.Ser874Asn)
c.1487G>A (p.Ser496Asn)
c.2534G>A (p.Ser845Asn)
5g.132892182_132892184delCA2768446624AFF4c.2619_2621del (p.Ser874del)
c.1485_1487del (p.Ser496del)
c.2532_2534del (p.Ser845del)
5g.132892181T>ACA360928361AFF4c.2620A>T (p.Ser874Cys)
c.1486A>T (p.Ser496Cys)
c.2533A>T (p.Ser845Cys)
5g.132892181T>CCA360928363AFF4c.2620A>G (p.Ser874Gly)
c.1486A>G (p.Ser496Gly)
c.2533A>G (p.Ser845Gly)
5g.132892181T>GCA360928365AFF4c.2620A>C (p.Ser874Arg)
c.1486A>C (p.Ser496Arg)
c.2533A>C (p.Ser845Arg)
5g.132892182A>CCA360928370AFF4c.2619T>G (p.Ser873Arg)
c.1485T>G (p.Ser495Arg)
c.2532T>G (p.Ser844Arg)
5g.132892182A>GCA446498812AFF4c.2619T>C (p.Ser873=)
c.1485T>C (p.Ser495=)
c.2532T>C (p.Ser844=)
5g.132892182A>TCA360928369AFF4c.2619T>A (p.Ser873Arg)
c.1485T>A (p.Ser495Arg)
c.2532T>A (p.Ser844Arg)
5g.132892183C>ACA127270039AFF4c.2618G>T (p.Ser873Ile)
c.1484G>T (p.Ser495Ile)
c.2531G>T (p.Ser844Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.132892183C=CA1583372455AFF4c.2618G= (p.Ser873=)
c.1484G= (p.Ser495=)
c.2531G= (p.Ser844=)
5g.132892183C>GCA360928374AFF4c.2618G>C (p.Ser873Thr)
c.1484G>C (p.Ser495Thr)
c.2531G>C (p.Ser844Thr)
5g.132892183C>TCA360928375AFF4c.2618G>A (p.Ser873Asn)
c.1484G>A (p.Ser495Asn)
c.2531G>A (p.Ser844Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892184T>ACA360928378AFF4c.2617A>T (p.Ser873Cys)
c.1483A>T (p.Ser495Cys)
c.2530A>T (p.Ser844Cys)
5g.132892184T>CCA3408892AFF4c.2617A>G (p.Ser873Gly)
c.1483A>G (p.Ser495Gly)
c.2530A>G (p.Ser844Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892184T>GCA360928381AFF4c.2617A>C (p.Ser873Arg)
c.1483A>C (p.Ser495Arg)
c.2530A>C (p.Ser844Arg)
5g.132892184T=CA1583372456AFF4c.2617A= (p.Ser873=)
c.1483A= (p.Ser495=)
c.2530A= (p.Ser844=)
5g.132892185G>ACA446498816AFF4c.2616C>T (p.Ser872=)
c.1482C>T (p.Ser494=)
c.2529C>T (p.Ser843=)
 dbSNP gnomAD v2 gnomAD v4
5g.132892185G>CCA446498817AFF4c.2616C>G (p.Ser872=)
c.1482C>G (p.Ser494=)
c.2529C>G (p.Ser843=)
5g.132892185G=CA1583372457AFF4c.2616C= (p.Ser872=)
c.1482C= (p.Ser494=)
c.2529C= (p.Ser843=)
5g.132892185G>TCA446498818AFF4c.2616C>A (p.Ser872=)
c.1482C>A (p.Ser494=)
c.2529C>A (p.Ser843=)
5g.132892186delCA2578462024AFF4c.2616del (p.Ser873ValfsTer?)
c.2616del (p.Ser873ValfsTer8)
c.1482del (p.Ser495ValfsTer?)
c.2529del (p.Ser844ValfsTer?)
5g.132892186G>ACA360928383AFF4c.2615C>T (p.Ser872Phe)
c.1481C>T (p.Ser494Phe)
c.2528C>T (p.Ser843Phe)
5g.132892186G>CCA360928384AFF4c.2615C>G (p.Ser872Cys)
c.1481C>G (p.Ser494Cys)
c.2528C>G (p.Ser843Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.132892186G=CA1583372458AFF4c.2615C= (p.Ser872=)
c.1481C= (p.Ser494=)
c.2528C= (p.Ser843=)
5g.132892186G>TCA360928386AFF4c.2615C>A (p.Ser872Tyr)
c.1481C>A (p.Ser494Tyr)
c.2528C>A (p.Ser843Tyr)
5g.132892187A>CCA360928388AFF4c.2614T>G (p.Ser872Ala)
c.1480T>G (p.Ser494Ala)
c.2527T>G (p.Ser843Ala)
5g.132892187A>GCA360928390AFF4c.2614T>C (p.Ser872Pro)
c.1480T>C (p.Ser494Pro)
c.2527T>C (p.Ser843Pro)
5g.132892187A>TCA360928392AFF4c.2614T>A (p.Ser872Thr)
c.1480T>A (p.Ser494Thr)
c.2527T>A (p.Ser843Thr)
5g.132892188A>CCA446498822AFF4c.2613T>G (p.Thr871=)
c.1479T>G (p.Thr493=)
c.2526T>G (p.Thr842=)
5g.132892188A>GCA446498823AFF4c.2613T>C (p.Thr871=)
c.1479T>C (p.Thr493=)
c.2526T>C (p.Thr842=)
5g.132892188A>TCA446498824AFF4c.2613T>A (p.Thr871=)
c.1479T>A (p.Thr493=)
c.2526T>A (p.Thr842=)
5g.132892189G>ACA360928395AFF4c.2612C>T (p.Thr871Ile)
c.1478C>T (p.Thr493Ile)
c.2525C>T (p.Thr842Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892189G>CCA360928396AFF4c.2612C>G (p.Thr871Ser)
c.1478C>G (p.Thr493Ser)
c.2525C>G (p.Thr842Ser)
 gnomAD v4
5g.132892189G=CA1583372459AFF4c.2612C= (p.Thr871=)
c.1478C= (p.Thr493=)
c.2525C= (p.Thr842=)
5g.132892189G>TCA360928394AFF4c.2612C>A (p.Thr871Asn)
c.1478C>A (p.Thr493Asn)
c.2525C>A (p.Thr842Asn)
5g.132892190T>ACA360928398AFF4c.2611A>T (p.Thr871Ser)
c.1477A>T (p.Thr493Ser)
c.2524A>T (p.Thr842Ser)
5g.132892190T>CCA360928400AFF4c.2611A>G (p.Thr871Ala)
c.1477A>G (p.Thr493Ala)
c.2524A>G (p.Thr842Ala)
5g.132892190T>GCA360928402AFF4c.2611A>C (p.Thr871Pro)
c.1477A>C (p.Thr493Pro)
c.2524A>C (p.Thr842Pro)
5g.132892191C>ACA360928404AFF4c.2610G>T (p.Lys870Asn)
c.1476G>T (p.Lys492Asn)
c.2523G>T (p.Lys841Asn)
5g.132892191C>GCA360928406AFF4c.2610G>C (p.Lys870Asn)
c.1476G>C (p.Lys492Asn)
c.2523G>C (p.Lys841Asn)
5g.132892191C>TCA446498826AFF4c.2610G>A (p.Lys870=)
c.1476G>A (p.Lys492=)
c.2523G>A (p.Lys841=)
5g.132892192T>ACA360928411AFF4c.2609A>T (p.Lys870Met)
c.1475A>T (p.Lys492Met)
c.2522A>T (p.Lys841Met)
5g.132892192T>CCA360928408AFF4c.2609A>G (p.Lys870Arg)
c.1475A>G (p.Lys492Arg)
c.2522A>G (p.Lys841Arg)
5g.132892192T>GCA360928410AFF4c.2609A>C (p.Lys870Thr)
c.1475A>C (p.Lys492Thr)
c.2522A>C (p.Lys841Thr)
5g.132892193T>ACA360928414AFF4c.2608A>T (p.Lys870Ter)
c.1474A>T (p.Lys492Ter)
c.2521A>T (p.Lys841Ter)
5g.132892193T>CCA360928415AFF4c.2608A>G (p.Lys870Glu)
c.1474A>G (p.Lys492Glu)
c.2521A>G (p.Lys841Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.132892193T>GCA360928417AFF4c.2608A>C (p.Lys870Gln)
c.1474A>C (p.Lys492Gln)
c.2521A>C (p.Lys841Gln)
5g.132892193T=CA1583372460AFF4c.2608A= (p.Lys870=)
c.1474A= (p.Lys492=)
c.2521A= (p.Lys841=)
5g.132892194C>ACA446498827AFF4c.2607G>T (p.Gly869=)
c.1473G>T (p.Gly491=)
c.2520G>T (p.Gly840=)
5g.132892194C>GCA446498828AFF4c.2607G>C (p.Gly869=)
c.1473G>C (p.Gly491=)
c.2520G>C (p.Gly840=)
 gnomAD v4
5g.132892194C>TCA446498829AFF4c.2607G>A (p.Gly869=)
c.1473G>A (p.Gly491=)
c.2520G>A (p.Gly840=)
5g.132892195C>ACA360928419AFF4c.2606G>T (p.Gly869Val)
c.1472G>T (p.Gly491Val)
c.2519G>T (p.Gly840Val)
5g.132892195C=CA1583372461AFF4c.2606G= (p.Gly869=)
c.1472G= (p.Gly491=)
c.2519G= (p.Gly840=)
5g.132892195C>GCA360928421AFF4c.2606G>C (p.Gly869Ala)
c.1472G>C (p.Gly491Ala)
c.2519G>C (p.Gly840Ala)
5g.132892195C>TCA360928423AFF4c.2606G>A (p.Gly869Glu)
c.1472G>A (p.Gly491Glu)
c.2519G>A (p.Gly840Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.132892196C>ACA360928427AFF4c.2605G>T (p.Gly869Trp)
c.1471G>T (p.Gly491Trp)
c.2518G>T (p.Gly840Trp)
5g.132892196C>GCA360928429AFF4c.2605G>C (p.Gly869Arg)
c.1471G>C (p.Gly491Arg)
c.2518G>C (p.Gly840Arg)
5g.132892196C>TCA360928426AFF4c.2605G>A (p.Gly869Arg)
c.1471G>A (p.Gly491Arg)
c.2518G>A (p.Gly840Arg)
5g.132892197T>ACA360928433AFF4c.2604A>T (p.Glu868Asp)
c.1470A>T (p.Glu490Asp)
c.2517A>T (p.Glu839Asp)
5g.132892197T>CCA446498830AFF4c.2604A>G (p.Glu868=)
c.1470A>G (p.Glu490=)
c.2517A>G (p.Glu839=)
5g.132892197T>GCA360928431AFF4c.2604A>C (p.Glu868Asp)
c.1470A>C (p.Glu490Asp)
c.2517A>C (p.Glu839Asp)
 dbSNP gnomAD v3 gnomAD v4
5g.132892197T=CA1583372462AFF4c.2604A= (p.Glu868=)
c.1470A= (p.Glu490=)
c.2517A= (p.Glu839=)
5g.132892198T>ACA360928439AFF4c.2603A>T (p.Glu868Val)
c.1469A>T (p.Glu490Val)
c.2516A>T (p.Glu839Val)
5g.132892198T>CCA360928435AFF4c.2603A>G (p.Glu868Gly)
c.1469A>G (p.Glu490Gly)
c.2516A>G (p.Glu839Gly)
5g.132892198T>GCA360928437AFF4c.2603A>C (p.Glu868Ala)
c.1469A>C (p.Glu490Ala)
c.2516A>C (p.Glu839Ala)
 dbSNP gnomAD v4
5g.132892198T=CA1583372463AFF4c.2603A= (p.Glu868=)
c.1469A= (p.Glu490=)
c.2516A= (p.Glu839=)
5g.132892199delCA2675252573AFF4c.2602del (p.Glu868LysfsTer?)
c.2602del (p.Glu868LysfsTer13)
c.1468del (p.Glu490LysfsTer?)
c.2515del (p.Glu839LysfsTer?)
 gnomAD v4
5g.132892199C>ACA360928441AFF4c.2602G>T (p.Glu868Ter)
c.1468G>T (p.Glu490Ter)
c.2515G>T (p.Glu839Ter)
5g.132892199C=CA1583372464AFF4c.2602G= (p.Glu868=)
c.1468G= (p.Glu490=)
c.2515G= (p.Glu839=)
5g.132892199C>GCA360928443AFF4c.2602G>C (p.Glu868Gln)
c.1468G>C (p.Glu490Gln)
c.2515G>C (p.Glu839Gln)
 gnomAD v4
5g.132892199C>TCA127270040AFF4c.2602G>A (p.Glu868Lys)
c.1468G>A (p.Glu490Lys)
c.2515G>A (p.Glu839Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.132892200G>ACA3408893AFF4c.2601C>T (p.Thr867=)
c.1467C>T (p.Thr489=)
c.2514C>T (p.Thr838=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892200G>CCA446498831AFF4c.2601C>G (p.Thr867=)
c.1467C>G (p.Thr489=)
c.2514C>G (p.Thr838=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892200G=CA1583372465AFF4c.2601C= (p.Thr867=)
c.1467C= (p.Thr489=)
c.2514C= (p.Thr838=)
5g.132892200G>TCA446498832AFF4c.2601C>A (p.Thr867=)
c.1467C>A (p.Thr489=)
c.2514C>A (p.Thr838=)
 gnomAD v4
5g.132892201G>ACA360928450AFF4c.2600C>T (p.Thr867Ile)
c.1466C>T (p.Thr489Ile)
c.2513C>T (p.Thr838Ile)
5g.132892201G>CCA360928453AFF4c.2600C>G (p.Thr867Ser)
c.1466C>G (p.Thr489Ser)
c.2513C>G (p.Thr838Ser)
5g.132892201G=CA1583372466AFF4c.2600C= (p.Thr867=)
c.1466C= (p.Thr489=)
c.2513C= (p.Thr838=)
5g.132892201G>TCA3408895AFF4c.2600C>A (p.Thr867Asn)
c.1466C>A (p.Thr489Asn)
c.2513C>A (p.Thr838Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892201_132892204delinsGTCTCA1583372467AFF4c.2597_2600delinsAGAC (p.Lys866=)
c.1463_1466delinsAGAC (p.Lys488=)
c.2510_2513delinsAGAC (p.Lys837=)
5g.132892202T>ACA360928456AFF4c.2599A>T (p.Thr867Ser)
c.1465A>T (p.Thr489Ser)
c.2512A>T (p.Thr838Ser)
5g.132892202T>CCA360928457AFF4c.2599A>G (p.Thr867Ala)
c.1465A>G (p.Thr489Ala)
c.2512A>G (p.Thr838Ala)
5g.132892202T>GCA360928458AFF4c.2599A>C (p.Thr867Pro)
c.1465A>C (p.Thr489Pro)
c.2512A>C (p.Thr838Pro)
5g.132892208_132892210delCA3408894AFF4c.2597_2599del (p.Lys866del)
c.1463_1465del (p.Lys488del)
c.2510_2512del (p.Lys837del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892203C>ACA360928461AFF4c.2598G>T (p.Lys866Asn)
c.1464G>T (p.Lys488Asn)
c.2511G>T (p.Lys837Asn)
5g.132892203C=CA1583372468AFF4c.2598G= (p.Lys866=)
c.1464G= (p.Lys488=)
c.2511G= (p.Lys837=)
5g.132892203C>GCA360928462AFF4c.2598G>C (p.Lys866Asn)
c.1464G>C (p.Lys488Asn)
c.2511G>C (p.Lys837Asn)
5g.132892203C>TCA446498834AFF4c.2598G>A (p.Lys866=)
c.1464G>A (p.Lys488=)
c.2511G>A (p.Lys837=)
 dbSNP gnomAD v3 gnomAD v4
5g.132892204T>ACA360928465AFF4c.2597A>T (p.Lys866Met)
c.1463A>T (p.Lys488Met)
c.2510A>T (p.Lys837Met)
5g.132892204T>CCA360928467AFF4c.2597A>G (p.Lys866Arg)
c.1463A>G (p.Lys488Arg)
c.2510A>G (p.Lys837Arg)
5g.132892204T>GCA360928470AFF4c.2597A>C (p.Lys866Thr)
c.1463A>C (p.Lys488Thr)
c.2510A>C (p.Lys837Thr)
 dbSNP gnomAD v3 gnomAD v4
5g.132892204T=CA1583372469AFF4c.2597A= (p.Lys866=)
c.1463A= (p.Lys488=)
c.2510A= (p.Lys837=)
5g.132892205T>ACA360928472AFF4c.2596A>T (p.Lys866Ter)
c.1462A>T (p.Lys488Ter)
c.2509A>T (p.Lys837Ter)
5g.132892205T>CCA360928474AFF4c.2596A>G (p.Lys866Glu)
c.1462A>G (p.Lys488Glu)
c.2509A>G (p.Lys837Glu)
5g.132892205T>GCA360928475AFF4c.2596A>C (p.Lys866Gln)
c.1462A>C (p.Lys488Gln)
c.2509A>C (p.Lys837Gln)
5g.132892206C>ACA360928477AFF4c.2595G>T (p.Lys865Asn)
c.1461G>T (p.Lys487Asn)
c.2508G>T (p.Lys836Asn)
5g.132892206C=CA1583372470AFF4c.2595G= (p.Lys865=)
c.1461G= (p.Lys487=)
c.2508G= (p.Lys836=)
5g.132892206C>GCA3408896AFF4c.2595G>C (p.Lys865Asn)
c.1461G>C (p.Lys487Asn)
c.2508G>C (p.Lys836Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892206C>TCA446498836AFF4c.2595G>A (p.Lys865=)
c.1461G>A (p.Lys487=)
c.2508G>A (p.Lys836=)
5g.132892207T>ACA360928483AFF4c.2594A>T (p.Lys865Met)
c.1460A>T (p.Lys487Met)
c.2507A>T (p.Lys836Met)
5g.132892207T>CCA360928484AFF4c.2594A>G (p.Lys865Arg)
c.1460A>G (p.Lys487Arg)
c.2507A>G (p.Lys836Arg)
5g.132892207T>GCA360928486AFF4c.2594A>C (p.Lys865Thr)
c.1460A>C (p.Lys487Thr)
c.2507A>C (p.Lys836Thr)
5g.132892208T>ACA360928493AFF4c.2593A>T (p.Lys865Ter)
c.1459A>T (p.Lys487Ter)
c.2506A>T (p.Lys836Ter)
5g.132892208T>CCA360928490AFF4c.2593A>G (p.Lys865Glu)
c.1459A>G (p.Lys487Glu)
c.2506A>G (p.Lys836Glu)
5g.132892208T>GCA360928488AFF4c.2593A>C (p.Lys865Gln)
c.1459A>C (p.Lys487Gln)
c.2506A>C (p.Lys836Gln)
5g.132892209C>ACA360928495AFF4c.2592G>T (p.Gln864His)
c.1458G>T (p.Gln486His)
c.2505G>T (p.Gln835His)
5g.132892209C>GCA360928497AFF4c.2592G>C (p.Gln864His)
c.1458G>C (p.Gln486His)
c.2505G>C (p.Gln835His)
5g.132892209C>TCA446498840AFF4c.2592G>A (p.Gln864=)
c.1458G>A (p.Gln486=)
c.2505G>A (p.Gln835=)
 gnomAD v4
5g.132892210T>ACA360928500AFF4c.2591A>T (p.Gln864Leu)
c.1457A>T (p.Gln486Leu)
c.2504A>T (p.Gln835Leu)
5g.132892210T>CCA360928503AFF4c.2591A>G (p.Gln864Arg)
c.1457A>G (p.Gln486Arg)
c.2504A>G (p.Gln835Arg)
5g.132892210T>GCA360928506AFF4c.2591A>C (p.Gln864Pro)
c.1457A>C (p.Gln486Pro)
c.2504A>C (p.Gln835Pro)
 gnomAD v4
5g.132892211G>ACA360928507AFF4c.2590C>T (p.Gln864Ter)
c.1456C>T (p.Gln486Ter)
c.2503C>T (p.Gln835Ter)
5g.132892211G>CCA360928510AFF4c.2590C>G (p.Gln864Glu)
c.1456C>G (p.Gln486Glu)
c.2503C>G (p.Gln835Glu)
 ClinVar dbSNP
5g.132892211G>TCA360928512AFF4c.2590C>A (p.Gln864Lys)
c.1456C>A (p.Gln486Lys)
c.2503C>A (p.Gln835Lys)
5g.132892212C>ACA360928516AFF4c.2589G>T (p.Lys863Asn)
c.1455G>T (p.Lys485Asn)
c.2502G>T (p.Lys834Asn)
5g.132892212C>GCA360928518AFF4c.2589G>C (p.Lys863Asn)
c.1455G>C (p.Lys485Asn)
c.2502G>C (p.Lys834Asn)
5g.132892212C>TCA446498844AFF4c.2589G>A (p.Lys863=)
c.1455G>A (p.Lys485=)
c.2502G>A (p.Lys834=)
 gnomAD v4
5g.132892213T>ACA360928521AFF4c.2588A>T (p.Lys863Met)
c.1454A>T (p.Lys485Met)
c.2501A>T (p.Lys834Met)
5g.132892213T>CCA360928524AFF4c.2588A>G (p.Lys863Arg)
c.1454A>G (p.Lys485Arg)
c.2501A>G (p.Lys834Arg)
5g.132892213T>GCA360928531AFF4c.2588A>C (p.Lys863Thr)
c.1454A>C (p.Lys485Thr)
c.2501A>C (p.Lys834Thr)
5g.132892214T>ACA360928544AFF4c.2587A>T (p.Lys863Ter)
c.1453A>T (p.Lys485Ter)
c.2500A>T (p.Lys834Ter)
5g.132892214T>CCA360928535AFF4c.2587A>G (p.Lys863Glu)
c.1453A>G (p.Lys485Glu)
c.2500A>G (p.Lys834Glu)
 gnomAD v4
5g.132892214T>GCA360928541AFF4c.2587A>C (p.Lys863Gln)
c.1453A>C (p.Lys485Gln)
c.2500A>C (p.Lys834Gln)
5g.132892215T>ACA446498848AFF4c.2586A>T (p.Ser862=)
c.1452A>T (p.Ser484=)
c.2499A>T (p.Ser833=)
5g.132892215T>CCA446498847AFF4c.2586A>G (p.Ser862=)
c.1452A>G (p.Ser484=)
c.2499A>G (p.Ser833=)
 gnomAD v4
5g.132892215T>GCA446498846AFF4c.2586A>C (p.Ser862=)
c.1452A>C (p.Ser484=)
c.2499A>C (p.Ser833=)
5g.132892216G>ACA360928547AFF4c.2585C>T (p.Ser862Leu)
c.1451C>T (p.Ser484Leu)
c.2498C>T (p.Ser833Leu)
5g.132892216G>CCA360928549AFF4c.2585C>G (p.Ser862Ter)
c.1451C>G (p.Ser484Ter)
c.2498C>G (p.Ser833Ter)
5g.132892216G>TCA360928551AFF4c.2585C>A (p.Ser862Ter)
c.1451C>A (p.Ser484Ter)
c.2498C>A (p.Ser833Ter)
5g.132892217A>CCA360928554AFF4c.2584T>G (p.Ser862Ala)
c.1450T>G (p.Ser484Ala)
c.2497T>G (p.Ser833Ala)
5g.132892217A>GCA360928556AFF4c.2584T>C (p.Ser862Pro)
c.1450T>C (p.Ser484Pro)
c.2497T>C (p.Ser833Pro)
5g.132892217A>TCA360928559AFF4c.2584T>A (p.Ser862Thr)
c.1450T>A (p.Ser484Thr)
c.2497T>A (p.Ser833Thr)
5g.132892218T>ACA446498849AFF4c.2583A>T (p.Thr861=)
c.1449A>T (p.Thr483=)
c.2496A>T (p.Thr832=)
5g.132892218T>CCA446498850AFF4c.2583A>G (p.Thr861=)
c.1449A>G (p.Thr483=)
c.2496A>G (p.Thr832=)
5g.132892218T>GCA446498851AFF4c.2583A>C (p.Thr861=)
c.1449A>C (p.Thr483=)
c.2496A>C (p.Thr832=)
5g.132892219G>ACA360928561AFF4c.2582C>T (p.Thr861Ile)
c.1448C>T (p.Thr483Ile)
c.2495C>T (p.Thr832Ile)
5g.132892219G>CCA360928564AFF4c.2582C>G (p.Thr861Arg)
c.1448C>G (p.Thr483Arg)
c.2495C>G (p.Thr832Arg)
5g.132892219G>TCA360928566AFF4c.2582C>A (p.Thr861Lys)
c.1448C>A (p.Thr483Lys)
c.2495C>A (p.Thr832Lys)
5g.132892220T>ACA360928570AFF4c.2581A>T (p.Thr861Ser)
c.1447A>T (p.Thr483Ser)
c.2494A>T (p.Thr832Ser)
5g.132892220T>CCA360928572AFF4c.2581A>G (p.Thr861Ala)
c.1447A>G (p.Thr483Ala)
c.2494A>G (p.Thr832Ala)
 dbSNP gnomAD v2 gnomAD v4
5g.132892220T>GCA360928575AFF4c.2581A>C (p.Thr861Pro)
c.1447A>C (p.Thr483Pro)
c.2494A>C (p.Thr832Pro)
5g.132892220T=CA1583372471AFF4c.2581A= (p.Thr861=)
c.1447A= (p.Thr483=)
c.2494A= (p.Thr832=)
5g.132892221G>ACA446498852AFF4c.2580C>T (p.Ser860=)
c.1446C>T (p.Ser482=)
c.2493C>T (p.Ser831=)
5g.132892221G>CCA446498853AFF4c.2580C>G (p.Ser860=)
c.1446C>G (p.Ser482=)
c.2493C>G (p.Ser831=)
5g.132892221G>TCA446498854AFF4c.2580C>A (p.Ser860=)
c.1446C>A (p.Ser482=)
c.2493C>A (p.Ser831=)
5g.132892222G>ACA360928581AFF4c.2579C>T (p.Ser860Phe)
c.1445C>T (p.Ser482Phe)
c.2492C>T (p.Ser831Phe)
 dbSNP gnomAD v2 gnomAD v4
5g.132892222G>CCA360928582AFF4c.2579C>G (p.Ser860Cys)
c.1445C>G (p.Ser482Cys)
c.2492C>G (p.Ser831Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.132892222G=CA1583372472AFF4c.2579C= (p.Ser860=)
c.1445C= (p.Ser482=)
c.2492C= (p.Ser831=)
5g.132892222G>TCA360928579AFF4c.2579C>A (p.Ser860Tyr)
c.1445C>A (p.Ser482Tyr)
c.2492C>A (p.Ser831Tyr)
5g.132892223A=CA1583372473AFF4c.2578T= (p.Ser860=)
c.1444T= (p.Ser482=)
c.2491T= (p.Ser831=)
5g.132892223A>CCA3408897AFF4c.2578T>G (p.Ser860Ala)
c.1444T>G (p.Ser482Ala)
c.2491T>G (p.Ser831Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892223A>GCA360928585AFF4c.2578T>C (p.Ser860Pro)
c.1444T>C (p.Ser482Pro)
c.2491T>C (p.Ser831Pro)
5g.132892223A>TCA360928589AFF4c.2578T>A (p.Ser860Thr)
c.1444T>A (p.Ser482Thr)
c.2491T>A (p.Ser831Thr)
5g.132892224G>ACA3408898AFF4c.2577C>T (p.Ser859=)
c.1443C>T (p.Ser481=)
c.2490C>T (p.Ser830=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892224G>CCA446498855AFF4c.2577C>G (p.Ser859=)
c.1443C>G (p.Ser481=)
c.2490C>G (p.Ser830=)
5g.132892224G=CA1583372474AFF4c.2577C= (p.Ser859=)
c.1443C= (p.Ser481=)
c.2490C= (p.Ser830=)
5g.132892224G>TCA446498856AFF4c.2577C>A (p.Ser859=)
c.1443C>A (p.Ser481=)
c.2490C>A (p.Ser830=)
 gnomAD v4
5g.132892225G>ACA360928597AFF4c.2576C>T (p.Ser859Phe)
c.1442C>T (p.Ser481Phe)
c.2489C>T (p.Ser830Phe)
5g.132892225G>CCA360928601AFF4c.2576C>G (p.Ser859Cys)
c.1442C>G (p.Ser481Cys)
c.2489C>G (p.Ser830Cys)
 dbSNP
5g.132892225G=CA1583372475AFF4c.2576C= (p.Ser859=)
c.1442C= (p.Ser481=)
c.2489C= (p.Ser830=)
5g.132892225G>TCA360928604AFF4c.2576C>A (p.Ser859Tyr)
c.1442C>A (p.Ser481Tyr)
c.2489C>A (p.Ser830Tyr)
5g.132892226A>CCA360928612AFF4c.2575T>G (p.Ser859Ala)
c.1441T>G (p.Ser481Ala)
c.2488T>G (p.Ser830Ala)
5g.132892226A>GCA360928614AFF4c.2575T>C (p.Ser859Pro)
c.1441T>C (p.Ser481Pro)
c.2488T>C (p.Ser830Pro)
 gnomAD v4
5g.132892226A>TCA360928616AFF4c.2575T>A (p.Ser859Thr)
c.1441T>A (p.Ser481Thr)
c.2488T>A (p.Ser830Thr)
5g.132892227A>CCA360928619AFF4c.2574T>G (p.Ser858Arg)
c.1440T>G (p.Ser480Arg)
c.2487T>G (p.Ser829Arg)
5g.132892227A>GCA446498857AFF4c.2574T>C (p.Ser858=)
c.1440T>C (p.Ser480=)
c.2487T>C (p.Ser829=)
5g.132892227A>TCA360928622AFF4c.2574T>A (p.Ser858Arg)
c.1440T>A (p.Ser480Arg)
c.2487T>A (p.Ser829Arg)
5g.132892228C>ACA360928629AFF4c.2573G>T (p.Ser858Ile)
c.1439G>T (p.Ser480Ile)
c.2486G>T (p.Ser829Ile)
5g.132892228C>GCA360928627AFF4c.2573G>C (p.Ser858Thr)
c.1439G>C (p.Ser480Thr)
c.2486G>C (p.Ser829Thr)
 gnomAD v4
5g.132892228C>TCA360928624AFF4c.2573G>A (p.Ser858Asn)
c.1439G>A (p.Ser480Asn)
c.2486G>A (p.Ser829Asn)
 gnomAD v4
5g.132892229T>ACA360928633AFF4c.2572A>T (p.Ser858Cys)
c.1438A>T (p.Ser480Cys)
c.2485A>T (p.Ser829Cys)
5g.132892229T>CCA360928636AFF4c.2572A>G (p.Ser858Gly)
c.1438A>G (p.Ser480Gly)
c.2485A>G (p.Ser829Gly)
 gnomAD v4
5g.132892229T>GCA3408899AFF4c.2572A>C (p.Ser858Arg)
c.1438A>C (p.Ser480Arg)
c.2485A>C (p.Ser829Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892229T=CA1583372476AFF4c.2572A= (p.Ser858=)
c.1438A= (p.Ser480=)
c.2485A= (p.Ser829=)
5g.132892230G>ACA446498858AFF4c.2571C>T (p.Asn857=)
c.1437C>T (p.Asn479=)
c.2484C>T (p.Asn828=)
5g.132892230G>CCA3408900AFF4c.2571C>G (p.Asn857Lys)
c.1437C>G (p.Asn479Lys)
c.2484C>G (p.Asn828Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.132892230G=CA1583372477AFF4c.2571C= (p.Asn857=)
c.1437C= (p.Asn479=)
c.2484C= (p.Asn828=)
5g.132892230G>TCA360928642AFF4c.2571C>A (p.Asn857Lys)
c.1437C>A (p.Asn479Lys)
c.2484C>A (p.Asn828Lys)
5g.132892231T>ACA360928646AFF4c.2570A>T (p.Asn857Ile)
c.1436A>T (p.Asn479Ile)
c.2483A>T (p.Asn828Ile)
5g.132892231T>CCA360928650AFF4c.2570A>G (p.Asn857Ser)
c.1436A>G (p.Asn479Ser)
c.2483A>G (p.Asn828Ser)
5g.132892231T>GCA360928654AFF4c.2570A>C (p.Asn857Thr)
c.1436A>C (p.Asn479Thr)
c.2483A>C (p.Asn828Thr)
5g.132892232T>ACA360928662AFF4c.2569A>T (p.Asn857Tyr)
c.1435A>T (p.Asn479Tyr)
c.2482A>T (p.Asn828Tyr)
5g.132892232T>CCA360928664AFF4c.2569A>G (p.Asn857Asp)
c.1435A>G (p.Asn479Asp)
c.2482A>G (p.Asn828Asp)
5g.132892232T>GCA360928666AFF4c.2569A>C (p.Asn857His)
c.1435A>C (p.Asn479His)
c.2482A>C (p.Asn828His)
5g.132892233T>ACA360928670AFF4c.2568A>T (p.Lys856Asn)
c.1434A>T (p.Lys478Asn)
c.2481A>T (p.Lys827Asn)
5g.132892233T>CCA446498859AFF4c.2568A>G (p.Lys856=)
c.1434A>G (p.Lys478=)
c.2481A>G (p.Lys827=)
5g.132892233T>GCA360928677AFF4c.2568A>C (p.Lys856Asn)
c.1434A>C (p.Lys478Asn)
c.2481A>C (p.Lys827Asn)
 COSMIC
5g.132892234T>ACA360928682AFF4c.2567A>T (p.Lys856Ile)
c.1433A>T (p.Lys478Ile)
c.2480A>T (p.Lys827Ile)
5g.132892234T>CCA3408901AFF4c.2567A>G (p.Lys856Arg)
c.1433A>G (p.Lys478Arg)
c.2480A>G (p.Lys827Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892234T>GCA360928680AFF4c.2567A>C (p.Lys856Thr)
c.1433A>C (p.Lys478Thr)
c.2480A>C (p.Lys827Thr)
5g.132892234T=CA1583372478AFF4c.2567A= (p.Lys856=)
c.1433A= (p.Lys478=)
c.2480A= (p.Lys827=)
5g.132892235T>ACA360928684AFF4c.2566A>T (p.Lys856Ter)
c.1432A>T (p.Lys478Ter)
c.2479A>T (p.Lys827Ter)
5g.132892235T>CCA360928686AFF4c.2566A>G (p.Lys856Glu)
c.1432A>G (p.Lys478Glu)
c.2479A>G (p.Lys827Glu)
 gnomAD v4
5g.132892235T>GCA360928687AFF4c.2566A>C (p.Lys856Gln)
c.1432A>C (p.Lys478Gln)
c.2479A>C (p.Lys827Gln)
5g.132892236G>ACA446498860AFF4c.2565C>T (p.Ser855=)
c.1431C>T (p.Ser477=)
c.2478C>T (p.Ser826=)
5g.132892236G>CCA360928688AFF4c.2565C>G (p.Ser855Arg)
c.1431C>G (p.Ser477Arg)
c.2478C>G (p.Ser826Arg)
 gnomAD v4
5g.132892236G>TCA360928691AFF4c.2565C>A (p.Ser855Arg)
c.1431C>A (p.Ser477Arg)
c.2478C>A (p.Ser826Arg)
5g.132892237C>ACA360928697AFF4c.2564G>T (p.Ser855Ile)
c.1430G>T (p.Ser477Ile)
c.2477G>T (p.Ser826Ile)
5g.132892237C>GCA360928698AFF4c.2564G>C (p.Ser855Thr)
c.1430G>C (p.Ser477Thr)
c.2477G>C (p.Ser826Thr)
5g.132892237C>TCA360928700AFF4c.2564G>A (p.Ser855Asn)
c.1430G>A (p.Ser477Asn)
c.2477G>A (p.Ser826Asn)
 gnomAD v4
5g.132892238T>ACA360928704AFF4c.2563A>T (p.Ser855Cys)
c.1429A>T (p.Ser477Cys)
c.2476A>T (p.Ser826Cys)
5g.132892238T>CCA360928710AFF4c.2563A>G (p.Ser855Gly)
c.1429A>G (p.Ser477Gly)
c.2476A>G (p.Ser826Gly)
5g.132892238T>GCA360928713AFF4c.2563A>C (p.Ser855Arg)
c.1429A>C (p.Ser477Arg)
c.2476A>C (p.Ser826Arg)
 gnomAD v4
5g.132892239G>ACA446498861AFF4c.2562C>T (p.Ser854=)
c.1428C>T (p.Ser476=)
c.2475C>T (p.Ser825=)
5g.132892239G>CCA360928715AFF4c.2562C>G (p.Ser854Arg)
c.1428C>G (p.Ser476Arg)
c.2475C>G (p.Ser825Arg)
5g.132892239G>TCA360928718AFF4c.2562C>A (p.Ser854Arg)
c.1428C>A (p.Ser476Arg)
c.2475C>A (p.Ser825Arg)
5g.132892240C>ACA360928722AFF4c.2561G>T (p.Ser854Ile)
c.1427G>T (p.Ser476Ile)
c.2474G>T (p.Ser825Ile)
5g.132892240C=CA1583372479AFF4c.2561G= (p.Ser854=)
c.1427G= (p.Ser476=)
c.2474G= (p.Ser825=)
5g.132892240C>GCA360928726AFF4c.2561G>C (p.Ser854Thr)
c.1427G>C (p.Ser476Thr)
c.2474G>C (p.Ser825Thr)
5g.132892240C>TCA3408902AFF4c.2561G>A (p.Ser854Asn)
c.1427G>A (p.Ser476Asn)
c.2474G>A (p.Ser825Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.132892241T>ACA360928759AFF4c.2560A>T (p.Ser854Cys)
c.1426A>T (p.Ser476Cys)
c.2473A>T (p.Ser825Cys)
5g.132892241T>CCA360928763AFF4c.2560A>G (p.Ser854Gly)
c.1426A>G (p.Ser476Gly)
c.2473A>G (p.Ser825Gly)
5g.132892241T>GCA360928770AFF4c.2560A>C (p.Ser854Arg)
c.1426A>C (p.Ser476Arg)
c.2473A>C (p.Ser825Arg)
5g.132892242G>ACA446498862AFF4c.2559C>T (p.Gly853=)
c.1425C>T (p.Gly475=)
c.2472C>T (p.Gly824=)
5g.132892242G>CCA446498863AFF4c.2559C>G (p.Gly853=)
c.1425C>G (p.Gly475=)
c.2472C>G (p.Gly824=)
5g.132892242G>TCA446498864AFF4c.2559C>A (p.Gly853=)
c.1425C>A (p.Gly475=)
c.2472C>A (p.Gly824=)
 COSMIC
5g.132892243C>ACA360928772AFF4c.2558G>T (p.Gly853Val)
c.1424G>T (p.Gly475Val)
c.2471G>T (p.Gly824Val)
5g.132892243C>GCA360928776AFF4c.2558G>C (p.Gly853Ala)
c.1424G>C (p.Gly475Ala)
c.2471G>C (p.Gly824Ala)
 gnomAD v4
5g.132892243C>TCA360928780AFF4c.2558G>A (p.Gly853Asp)
c.1424G>A (p.Gly475Asp)
c.2471G>A (p.Gly824Asp)
5g.132892244C>ACA360928791AFF4c.2557G>T (p.Gly853Cys)
c.1423G>T (p.Gly475Cys)
c.2470G>T (p.Gly824Cys)
5g.132892244C>GCA360928786AFF4c.2557G>C (p.Gly853Arg)
c.1423G>C (p.Gly475Arg)
c.2470G>C (p.Gly824Arg)
5g.132892244C>TCA360928788AFF4c.2557G>A (p.Gly853Ser)
c.1423G>A (p.Gly475Ser)
c.2470G>A (p.Gly824Ser)
5g.132892245A=CA1583372480AFF4c.2556T= (p.Ser852=)
c.1422T= (p.Ser474=)
c.2469T= (p.Ser823=)
5g.132892245A>CCA360928792AFF4c.2556T>G (p.Ser852Arg)
c.1422T>G (p.Ser474Arg)
c.2469T>G (p.Ser823Arg)
5g.132892245A>GCA446498865AFF4c.2556T>C (p.Ser852=)
c.1422T>C (p.Ser474=)
c.2469T>C (p.Ser823=)
 dbSNP gnomAD v2 gnomAD v4
5g.132892245A>TCA360928795AFF4c.2556T>A (p.Ser852Arg)
c.1422T>A (p.Ser474Arg)
c.2469T>A (p.Ser823Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.132892246C>ACA360928798AFF4c.2555G>T (p.Ser852Ile)
c.1421G>T (p.Ser474Ile)
c.2468G>T (p.Ser823Ile)
5g.132892246C>GCA360928802AFF4c.2555G>C (p.Ser852Thr)
c.1421G>C (p.Ser474Thr)
c.2468G>C (p.Ser823Thr)
5g.132892246C>TCA360928805AFF4c.2555G>A (p.Ser852Asn)
c.1421G>A (p.Ser474Asn)
c.2468G>A (p.Ser823Asn)
 gnomAD v4
5g.132892247T>ACA360928818AFF4c.2554A>T (p.Ser852Cys)
c.1420A>T (p.Ser474Cys)
c.2467A>T (p.Ser823Cys)
 gnomAD v4
5g.132892247T>CCA360928816AFF4c.2554A>G (p.Ser852Gly)
c.1420A>G (p.Ser474Gly)
c.2467A>G (p.Ser823Gly)
 dbSNP
5g.132892247T>GCA360928815AFF4c.2554A>C (p.Ser852Arg)
c.1420A>C (p.Ser474Arg)
c.2467A>C (p.Ser823Arg)
5g.132892247T=CA1583372481AFF4c.2554A= (p.Ser852=)
c.1420A= (p.Ser474=)
c.2467A= (p.Ser823=)
5g.132892248C>ACA446498866AFF4c.2553G>T (p.Thr851=)
c.1419G>T (p.Thr473=)
c.2466G>T (p.Thr822=)
5g.132892248C=CA1583372482AFF4c.2553G= (p.Thr851=)
c.1419G= (p.Thr473=)
c.2466G= (p.Thr822=)
5g.132892248C>GCA446498867AFF4c.2553G>C (p.Thr851=)
c.1419G>C (p.Thr473=)
c.2466G>C (p.Thr822=)
5g.132892248C>TCA3408903AFF4c.2553G>A (p.Thr851=)
c.1419G>A (p.Thr473=)
c.2466G>A (p.Thr822=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched