Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.23602213_23606806dup | CA645372597 | ClinVar | ||
16 | g.23603459_23603669del | CA2581463456 | PALB2 | c.3360_*3del (n.[c.3360_*3del;Phe1120LeufsTer3]) c.*839_*1049del (n.*839_*1049del) c.3205_*199del (n.[c.3205_*199del;Pro1069ArgfsTer4]) c.3198_*3del (n.[c.3198_*3del;Phe1066LeufsTer3]) c.2469_*3del (n.[c.2469_*3del;Phe823LeufsTer3]) n.4701_4911del c.2320_*199del (n.[c.2320_*199del;Pro774ArgfsTer4]) c.2307_*3del (n.[c.2307_*3del;Phe769LeufsTer3]) n.3874_4084del n.2558_2768del n.2049_2259del c.*131_*341del (n.*131_*341del) c.888_*3del (n.[c.888_*3del;Phe296LeufsTer3]) c.3354_*3del (n.[c.3354_*3del;Phe1118LeufsTer3]) c.120_330del c.3211_*199del (n.[c.3211_*199del;Pro1071ArgfsTer4]) n.4062_4272del c.3123_*3del (n.[c.3123_*3del;Phe1041LeufsTer3]) c.3117_*3del (n.[c.3117_*3del;Phe1039LeufsTer3]) | |
16 | g.23603457_23603819del | CA2499223396 | PALB2 | c.3357-150_*2del c.*836-150_*1048del c.3202-150_*198del c.3195-150_*2del c.2466-150_*2del n.4698-150_4910del c.2317-150_*198del c.2304-150_*2del n.3871-150_4083del n.2555-150_2767del n.2046-150_2258del c.*128-150_*340del c.885-150_*2del c.3351-150_*2del c.117-150_329del c.3208-150_*198del n.4059-150_4271del c.3120-150_*2del c.3114-150_*2del | ClinVar dbSNP |
16 | g.23603460_23608014del | CA2581463450 | PALB2 | c.3208_*1del c.*683_*1047del c.3202-4343_*197del c.3046_*1del c.2317_*1del n.4549_4909del c.2317-4343_*197del c.2155_*1del n.3722_4082del n.2406_2766del n.1897_2257del c.2229_*339del c.736_*1del c.3202_*1del c.117-4343_328del c.3208-4343_*197del n.3910_4270del c.3120-4343_*1del c.3114-4343_*1del | |
16 | g.23603506G>A | CA494173534 | PALB2 | c.3520C>T (p.Leu1174=) c.*999C>T (n.*999C>T) c.*149C>T (n.*149C>T) c.3358C>T (p.Leu1120=) c.2629C>T (p.Leu877=) n.4861C>T c.2467C>T (p.Leu823=) n.4034C>T n.2718C>T n.2209C>T c.*291C>T (n.*291C>T) c.1048C>T (p.Leu350=) c.3514C>T (p.Leu1172=) c.280C>T n.4222C>T c.3283C>T (p.Leu1095=) c.3277C>T (p.Leu1093=) | dbSNP |
16 | g.23603506G>C | CA395137857 | PALB2 | c.3520C>G (p.Leu1174Val) c.*999C>G (n.*999C>G) c.*149C>G (n.*149C>G) c.3358C>G (p.Leu1120Val) c.2629C>G (p.Leu877Val) n.4861C>G c.2467C>G (p.Leu823Val) n.4034C>G n.2718C>G n.2209C>G c.*291C>G (n.*291C>G) c.1048C>G (p.Leu350Val) c.3514C>G (p.Leu1172Val) c.280C>G n.4222C>G c.3283C>G (p.Leu1095Val) c.3277C>G (p.Leu1093Val) | ClinVar dbSNP |
16 | g.23603506G= | CA2213424316 | PALB2 | c.3520C= (p.Leu1174=) c.*999C= (n.*999C=) c.*149C= (n.*149C=) c.3358C= (p.Leu1120=) c.2629C= (p.Leu877=) n.4861C= c.2467C= (p.Leu823=) n.4034C= n.2718C= n.2209C= c.*291C= (n.*291C=) c.1048C= (p.Leu350=) c.3514C= (p.Leu1172=) c.280C= n.4222C= c.3283C= (p.Leu1095=) c.3277C= (p.Leu1093=) | |
16 | g.23603506G>T | CA395137858 | PALB2 | c.3520C>A (p.Leu1174Met) c.*999C>A (n.*999C>A) c.*149C>A (n.*149C>A) c.3358C>A (p.Leu1120Met) c.2629C>A (p.Leu877Met) n.4861C>A c.2467C>A (p.Leu823Met) n.4034C>A n.2718C>A n.2209C>A c.*291C>A (n.*291C>A) c.1048C>A (p.Leu350Met) c.3514C>A (p.Leu1172Met) c.280C>A n.4222C>A c.3283C>A (p.Leu1095Met) c.3277C>A (p.Leu1093Met) | dbSNP |
16 | g.23603507C>A | CA395137859 | PALB2 | c.3519G>T (p.Leu1173Phe) c.*998G>T (n.*998G>T) c.*148G>T (n.*148G>T) c.3357G>T (p.Leu1119Phe) c.2628G>T (p.Leu876Phe) n.4860G>T c.2466G>T (p.Leu822Phe) n.4033G>T n.2717G>T n.2208G>T c.*290G>T (n.*290G>T) c.1047G>T (p.Leu349Phe) c.3513G>T (p.Leu1171Phe) c.279G>T n.4221G>T c.3282G>T (p.Leu1094Phe) c.3276G>T (p.Leu1092Phe) | |
16 | g.23603507C= | CA2213424318 | PALB2 | c.3519G= (p.Leu1173=) c.*998G= (n.*998G=) c.*148G= (n.*148G=) c.3357G= (p.Leu1119=) c.2628G= (p.Leu876=) n.4860G= c.2466G= (p.Leu822=) n.4033G= n.2717G= n.2208G= c.*290G= (n.*290G=) c.1047G= (p.Leu349=) c.3513G= (p.Leu1171=) c.279G= n.4221G= c.3282G= (p.Leu1094=) c.3276G= (p.Leu1092=) | |
16 | g.23603507C>G | CA395137860 | PALB2 | c.3519G>C (p.Leu1173Phe) c.*998G>C (n.*998G>C) c.*148G>C (n.*148G>C) c.3357G>C (p.Leu1119Phe) c.2628G>C (p.Leu876Phe) n.4860G>C c.2466G>C (p.Leu822Phe) n.4033G>C n.2717G>C n.2208G>C c.*290G>C (n.*290G>C) c.1047G>C (p.Leu349Phe) c.3513G>C (p.Leu1171Phe) c.279G>C n.4221G>C c.3282G>C (p.Leu1094Phe) c.3276G>C (p.Leu1092Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603507C>T | CA494173536 | PALB2 | c.3519G>A (p.Leu1173=) c.*998G>A (n.*998G>A) c.*148G>A (n.*148G>A) c.3357G>A (p.Leu1119=) c.2628G>A (p.Leu876=) n.4860G>A c.2466G>A (p.Leu822=) n.4033G>A n.2717G>A n.2208G>A c.*290G>A (n.*290G>A) c.1047G>A (p.Leu349=) c.3513G>A (p.Leu1171=) c.279G>A n.4221G>A c.3282G>A (p.Leu1094=) c.3276G>A (p.Leu1092=) | ClinVar dbSNP |
16 | g.23603508A>C | CA395137861 | PALB2 | c.3518T>G (p.Leu1173Trp) c.*997T>G (n.*997T>G) c.*147T>G (n.*147T>G) c.3356T>G (p.Leu1119Trp) c.2627T>G (p.Leu876Trp) n.4859T>G c.2465T>G (p.Leu822Trp) n.4032T>G n.2716T>G n.2207T>G c.*289T>G (n.*289T>G) c.1046T>G (p.Leu349Trp) c.3512T>G (p.Leu1171Trp) c.278T>G n.4220T>G c.3281T>G (p.Leu1094Trp) c.3275T>G (p.Leu1092Trp) | |
16 | g.23603508A>G | CA395137862 | PALB2 | c.3518T>C (p.Leu1173Ser) c.*997T>C (n.*997T>C) c.*147T>C (n.*147T>C) c.3356T>C (p.Leu1119Ser) c.2627T>C (p.Leu876Ser) n.4859T>C c.2465T>C (p.Leu822Ser) n.4032T>C n.2716T>C n.2207T>C c.*289T>C (n.*289T>C) c.1046T>C (p.Leu349Ser) c.3512T>C (p.Leu1171Ser) c.278T>C n.4220T>C c.3281T>C (p.Leu1094Ser) c.3275T>C (p.Leu1092Ser) | ClinVar dbSNP |
16 | g.23603508A>T | CA395137863 | PALB2 | c.3518T>A (p.Leu1173Ter) c.*997T>A (n.*997T>A) c.*147T>A (n.*147T>A) c.3356T>A (p.Leu1119Ter) c.2627T>A (p.Leu876Ter) n.4859T>A c.2465T>A (p.Leu822Ter) n.4032T>A n.2716T>A n.2207T>A c.*289T>A (n.*289T>A) c.1046T>A (p.Leu349Ter) c.3512T>A (p.Leu1171Ter) c.278T>A n.4220T>A c.3281T>A (p.Leu1094Ter) c.3275T>A (p.Leu1092Ter) | dbSNP |
16 | g.23603510del | CA915941064 | PALB2 | c.3518del (p.Leu1173CysfsTer20) c.*997del (n.*997del) c.*147del (n.*147del) c.3356del (p.Leu1119CysfsTer20) c.2627del (p.Leu876CysfsTer20) n.4859del c.2465del (p.Leu822CysfsTer20) n.4032del n.2716del n.2207del c.*289del (n.*289del) c.1046del (p.Leu349CysfsTer20) c.3512del (p.Leu1171CysfsTer20) c.278del n.4220del c.3281del (p.Leu1094CysfsTer20) c.3275del (p.Leu1092CysfsTer20) | ClinVar |
16 | g.23603509A>C | CA395137864 | PALB2 | c.3517T>G (p.Leu1173Val) c.*996T>G (n.*996T>G) c.*146T>G (n.*146T>G) c.3355T>G (p.Leu1119Val) c.2626T>G (p.Leu876Val) n.4858T>G c.2464T>G (p.Leu822Val) n.4031T>G n.2715T>G n.2206T>G c.*288T>G (n.*288T>G) c.1045T>G (p.Leu349Val) c.3511T>G (p.Leu1171Val) c.277T>G n.4219T>G c.3280T>G (p.Leu1094Val) c.3274T>G (p.Leu1092Val) | |
16 | g.23603509A>G | CA494173540 | PALB2 | c.3517T>C (p.Leu1173=) c.*996T>C (n.*996T>C) c.*146T>C (n.*146T>C) c.3355T>C (p.Leu1119=) c.2626T>C (p.Leu876=) n.4858T>C c.2464T>C (p.Leu822=) n.4031T>C n.2715T>C n.2206T>C c.*288T>C (n.*288T>C) c.1045T>C (p.Leu349=) c.3511T>C (p.Leu1171=) c.277T>C n.4219T>C c.3280T>C (p.Leu1094=) c.3274T>C (p.Leu1092=) | |
16 | g.23603509A>T | CA395137865 | PALB2 | c.3517T>A (p.Leu1173Met) c.*996T>A (n.*996T>A) c.*146T>A (n.*146T>A) c.3355T>A (p.Leu1119Met) c.2626T>A (p.Leu876Met) n.4858T>A c.2464T>A (p.Leu822Met) n.4031T>A n.2715T>A n.2206T>A c.*288T>A (n.*288T>A) c.1045T>A (p.Leu349Met) c.3511T>A (p.Leu1171Met) c.277T>A n.4219T>A c.3280T>A (p.Leu1094Met) c.3274T>A (p.Leu1092Met) | dbSNP |
16 | g.23603510A= | CA2213424321 | PALB2 | c.3516T= (p.His1172=) c.*995T= (n.*995T=) c.*145T= (n.*145T=) c.3354T= (p.His1118=) c.2625T= (p.His875=) n.4857T= c.2463T= (p.His821=) n.4030T= n.2714T= n.2205T= c.*287T= (n.*287T=) c.1044T= (p.His348=) c.3510T= (p.His1170=) c.276T= n.4218T= c.3279T= (p.His1093=) c.3273T= (p.His1091=) | |
16 | g.23603510A>C | CA395137866 | PALB2 | c.3516T>G (p.His1172Gln) c.*995T>G (n.*995T>G) c.*145T>G (n.*145T>G) c.3354T>G (p.His1118Gln) c.2625T>G (p.His875Gln) n.4857T>G c.2463T>G (p.His821Gln) n.4030T>G n.2714T>G n.2205T>G c.*287T>G (n.*287T>G) c.1044T>G (p.His348Gln) c.3510T>G (p.His1170Gln) c.276T>G n.4218T>G c.3279T>G (p.His1093Gln) c.3273T>G (p.His1091Gln) | |
16 | g.23603510A>G | CA494173541 | PALB2 | c.3516T>C (p.His1172=) c.*995T>C (n.*995T>C) c.*145T>C (n.*145T>C) c.3354T>C (p.His1118=) c.2625T>C (p.His875=) n.4857T>C c.2463T>C (p.His821=) n.4030T>C n.2714T>C n.2205T>C c.*287T>C (n.*287T>C) c.1044T>C (p.His348=) c.3510T>C (p.His1170=) c.276T>C n.4218T>C c.3279T>C (p.His1093=) c.3273T>C (p.His1091=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603510A>T | CA395137867 | PALB2 | c.3516T>A (p.His1172Gln) c.*995T>A (n.*995T>A) c.*145T>A (n.*145T>A) c.3354T>A (p.His1118Gln) c.2625T>A (p.His875Gln) n.4857T>A c.2463T>A (p.His821Gln) n.4030T>A n.2714T>A n.2205T>A c.*287T>A (n.*287T>A) c.1044T>A (p.His348Gln) c.3510T>A (p.His1170Gln) c.276T>A n.4218T>A c.3279T>A (p.His1093Gln) c.3273T>A (p.His1091Gln) | dbSNP |
16 | g.23603511T>A | CA395137868 | PALB2 | c.3515A>T (p.His1172Leu) c.*994A>T (n.*994A>T) c.*144A>T (n.*144A>T) c.3353A>T (p.His1118Leu) c.2624A>T (p.His875Leu) n.4856A>T c.2462A>T (p.His821Leu) n.4029A>T n.2713A>T n.2204A>T c.*286A>T (n.*286A>T) c.1043A>T (p.His348Leu) c.3509A>T (p.His1170Leu) c.275A>T n.4217A>T c.3278A>T (p.His1093Leu) c.3272A>T (p.His1091Leu) | dbSNP |
16 | g.23603511T>C | CA395137869 | PALB2 | c.3515A>G (p.His1172Arg) c.*994A>G (n.*994A>G) c.*144A>G (n.*144A>G) c.3353A>G (p.His1118Arg) c.2624A>G (p.His875Arg) n.4856A>G c.2462A>G (p.His821Arg) n.4029A>G n.2713A>G n.2204A>G c.*286A>G (n.*286A>G) c.1043A>G (p.His348Arg) c.3509A>G (p.His1170Arg) c.275A>G n.4217A>G c.3278A>G (p.His1093Arg) c.3272A>G (p.His1091Arg) | dbSNP |
16 | g.23603511T>G | CA395137870 | PALB2 | c.3515A>C (p.His1172Pro) c.*994A>C (n.*994A>C) c.*144A>C (n.*144A>C) c.3353A>C (p.His1118Pro) c.2624A>C (p.His875Pro) n.4856A>C c.2462A>C (p.His821Pro) n.4029A>C n.2713A>C n.2204A>C c.*286A>C (n.*286A>C) c.1043A>C (p.His348Pro) c.3509A>C (p.His1170Pro) c.275A>C n.4217A>C c.3278A>C (p.His1093Pro) c.3272A>C (p.His1091Pro) | ClinVar dbSNP |
16 | g.23603511_23603513delinsTGA | CA2213424322 | PALB2 | c.3513_3515delinsTCA (p.Ser1171=) c.*992_*994delinsTCA (n.*992_*994delinsTCA) c.*142_*144delinsTCA (n.*142_*144delinsTCA) c.3351_3353delinsTCA (p.Ser1117=) c.2622_2624delinsTCA (p.Ser874=) n.4854_4856delinsTCA c.2460_2462delinsTCA (p.Ser820=) n.4027_4029delinsTCA n.2711_2713delinsTCA n.2202_2204delinsTCA c.*284_*286delinsTCA (n.*284_*286delinsTCA) c.1041_1043delinsTCA (p.Ser347=) c.3507_3509delinsTCA (p.Ser1169=) c.273_275delinsTCA n.4215_4217delinsTCA c.3276_3278delinsTCA (p.Ser1092=) c.3270_3272delinsTCA (p.Ser1090=) | |
16 | g.23603512G>A | CA294118 | PALB2 | c.3514C>T (p.His1172Tyr) c.*993C>T (n.*993C>T) c.*143C>T (n.*143C>T) c.3352C>T (p.His1118Tyr) c.2623C>T (p.His875Tyr) n.4855C>T c.2461C>T (p.His821Tyr) n.4028C>T n.2712C>T n.2203C>T c.*285C>T (n.*285C>T) c.1042C>T (p.His348Tyr) c.3508C>T (p.His1170Tyr) c.274C>T n.4216C>T c.3277C>T (p.His1093Tyr) c.3271C>T (p.His1091Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603512G>C | CA395137873 | PALB2 | c.3514C>G (p.His1172Asp) c.*993C>G (n.*993C>G) c.*143C>G (n.*143C>G) c.3352C>G (p.His1118Asp) c.2623C>G (p.His875Asp) n.4855C>G c.2461C>G (p.His821Asp) n.4028C>G n.2712C>G n.2203C>G c.*285C>G (n.*285C>G) c.1042C>G (p.His348Asp) c.3508C>G (p.His1170Asp) c.274C>G n.4216C>G c.3277C>G (p.His1093Asp) c.3271C>G (p.His1091Asp) | dbSNP |
16 | g.23603512G= | CA2213424324 | PALB2 | c.3514C= (p.His1172=) c.*993C= (n.*993C=) c.*143C= (n.*143C=) c.3352C= (p.His1118=) c.2623C= (p.His875=) n.4855C= c.2461C= (p.His821=) n.4028C= n.2712C= n.2203C= c.*285C= (n.*285C=) c.1042C= (p.His348=) c.3508C= (p.His1170=) c.274C= n.4216C= c.3277C= (p.His1093=) c.3271C= (p.His1091=) | |
16 | g.23603512G>T | CA16614807 | PALB2 | c.3514C>A (p.His1172Asn) c.*993C>A (n.*993C>A) c.*143C>A (n.*143C>A) c.3352C>A (p.His1118Asn) c.2623C>A (p.His875Asn) n.4855C>A c.2461C>A (p.His821Asn) n.4028C>A n.2712C>A n.2203C>A c.*285C>A (n.*285C>A) c.1042C>A (p.His348Asn) c.3508C>A (p.His1170Asn) c.274C>A n.4216C>A c.3277C>A (p.His1093Asn) c.3271C>A (p.His1091Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.23603515_23603516del | CA164092 | PALB2 | c.3513_3514del (p.His1172PhefsTer19) c.*992_*993del (n.*992_*993del) c.*142_*143del (n.*142_*143del) c.3351_3352del (p.His1118PhefsTer19) c.2622_2623del (p.His875PhefsTer19) n.4854_4855del c.2460_2461del (p.His821PhefsTer19) n.4027_4028del n.2711_2712del n.2202_2203del c.*284_*285del (n.*284_*285del) c.1041_1042del (p.His348PhefsTer19) c.3507_3508del (p.His1170PhefsTer19) c.273_274del n.4215_4216del c.3276_3277del (p.His1093PhefsTer19) c.3270_3271del (p.His1091PhefsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603513A= | CA2213424326 | PALB2 | c.3513T= (p.Ser1171=) c.*992T= (n.*992T=) c.*142T= (n.*142T=) c.3351T= (p.Ser1117=) c.2622T= (p.Ser874=) n.4854T= c.2460T= (p.Ser820=) n.4027T= n.2711T= n.2202T= c.*284T= (n.*284T=) c.1041T= (p.Ser347=) c.3507T= (p.Ser1169=) c.273T= n.4215T= c.3276T= (p.Ser1092=) c.3270T= (p.Ser1090=) | |
16 | g.23603513A>C | CA494173544 | PALB2 | c.3513T>G (p.Ser1171=) c.*992T>G (n.*992T>G) c.*142T>G (n.*142T>G) c.3351T>G (p.Ser1117=) c.2622T>G (p.Ser874=) n.4854T>G c.2460T>G (p.Ser820=) n.4027T>G n.2711T>G n.2202T>G c.*284T>G (n.*284T>G) c.1041T>G (p.Ser347=) c.3507T>G (p.Ser1169=) c.273T>G n.4215T>G c.3276T>G (p.Ser1092=) c.3270T>G (p.Ser1090=) | |
16 | g.23603513A>G | CA7963327 | PALB2 | c.3513T>C (p.Ser1171=) c.*992T>C (n.*992T>C) c.*142T>C (n.*142T>C) c.3351T>C (p.Ser1117=) c.2622T>C (p.Ser874=) n.4854T>C c.2460T>C (p.Ser820=) n.4027T>C n.2711T>C n.2202T>C c.*284T>C (n.*284T>C) c.1041T>C (p.Ser347=) c.3507T>C (p.Ser1169=) c.273T>C n.4215T>C c.3276T>C (p.Ser1092=) c.3270T>C (p.Ser1090=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603513A>T | CA494173547 | PALB2 | c.3513T>A (p.Ser1171=) c.*992T>A (n.*992T>A) c.*142T>A (n.*142T>A) c.3351T>A (p.Ser1117=) c.2622T>A (p.Ser874=) n.4854T>A c.2460T>A (p.Ser820=) n.4027T>A n.2711T>A n.2202T>A c.*284T>A (n.*284T>A) c.1041T>A (p.Ser347=) c.3507T>A (p.Ser1169=) c.273T>A n.4215T>A c.3276T>A (p.Ser1092=) c.3270T>A (p.Ser1090=) | dbSNP |
16 | g.23603514G>A | CA395137879 | PALB2 | c.3512C>T (p.Ser1171Phe) c.*991C>T (n.*991C>T) c.*141C>T (n.*141C>T) c.3350C>T (p.Ser1117Phe) c.2621C>T (p.Ser874Phe) n.4853C>T c.2459C>T (p.Ser820Phe) n.4026C>T n.2710C>T n.2201C>T c.*283C>T (n.*283C>T) c.1040C>T (p.Ser347Phe) c.3506C>T (p.Ser1169Phe) c.272C>T n.4214C>T c.3275C>T (p.Ser1092Phe) c.3269C>T (p.Ser1090Phe) | gnomAD v4 |
16 | g.23603514G>C | CA395137878 | PALB2 | c.3512C>G (p.Ser1171Cys) c.*991C>G (n.*991C>G) c.*141C>G (n.*141C>G) c.3350C>G (p.Ser1117Cys) c.2621C>G (p.Ser874Cys) n.4853C>G c.2459C>G (p.Ser820Cys) n.4026C>G n.2710C>G n.2201C>G c.*283C>G (n.*283C>G) c.1040C>G (p.Ser347Cys) c.3506C>G (p.Ser1169Cys) c.272C>G n.4214C>G c.3275C>G (p.Ser1092Cys) c.3269C>G (p.Ser1090Cys) | ClinVar dbSNP gnomAD v4 |
16 | g.23603514G= | CA2213424328 | PALB2 | c.3512C= (p.Ser1171=) c.*991C= (n.*991C=) c.*141C= (n.*141C=) c.3350C= (p.Ser1117=) c.2621C= (p.Ser874=) n.4853C= c.2459C= (p.Ser820=) n.4026C= n.2710C= n.2201C= c.*283C= (n.*283C=) c.1040C= (p.Ser347=) c.3506C= (p.Ser1169=) c.272C= n.4214C= c.3275C= (p.Ser1092=) c.3269C= (p.Ser1090=) | |
16 | g.23603514G>T | CA395137881 | PALB2 | c.3512C>A (p.Ser1171Tyr) c.*991C>A (n.*991C>A) c.*141C>A (n.*141C>A) c.3350C>A (p.Ser1117Tyr) c.2621C>A (p.Ser874Tyr) n.4853C>A c.2459C>A (p.Ser820Tyr) n.4026C>A n.2710C>A n.2201C>A c.*283C>A (n.*283C>A) c.1040C>A (p.Ser347Tyr) c.3506C>A (p.Ser1169Tyr) c.272C>A n.4214C>A c.3275C>A (p.Ser1092Tyr) c.3269C>A (p.Ser1090Tyr) | |
16 | g.23603515A>C | CA395137883 | PALB2 | c.3511T>G (p.Ser1171Ala) c.*990T>G (n.*990T>G) c.*140T>G (n.*140T>G) c.3349T>G (p.Ser1117Ala) c.2620T>G (p.Ser874Ala) n.4852T>G c.2458T>G (p.Ser820Ala) n.4025T>G n.2709T>G n.2200T>G c.*282T>G (n.*282T>G) c.1039T>G (p.Ser347Ala) c.3505T>G (p.Ser1169Ala) c.271T>G n.4213T>G c.3274T>G (p.Ser1092Ala) c.3268T>G (p.Ser1090Ala) | |
16 | g.23603515A>G | CA395137886 | PALB2 | c.3511T>C (p.Ser1171Pro) c.*990T>C (n.*990T>C) c.*140T>C (n.*140T>C) c.3349T>C (p.Ser1117Pro) c.2620T>C (p.Ser874Pro) n.4852T>C c.2458T>C (p.Ser820Pro) n.4025T>C n.2709T>C n.2200T>C c.*282T>C (n.*282T>C) c.1039T>C (p.Ser347Pro) c.3505T>C (p.Ser1169Pro) c.271T>C n.4213T>C c.3274T>C (p.Ser1092Pro) c.3268T>C (p.Ser1090Pro) | |
16 | g.23603515A>T | CA395137885 | PALB2 | c.3511T>A (p.Ser1171Thr) c.*990T>A (n.*990T>A) c.*140T>A (n.*140T>A) c.3349T>A (p.Ser1117Thr) c.2620T>A (p.Ser874Thr) n.4852T>A c.2458T>A (p.Ser820Thr) n.4025T>A n.2709T>A n.2200T>A c.*282T>A (n.*282T>A) c.1039T>A (p.Ser347Thr) c.3505T>A (p.Ser1169Thr) c.271T>A n.4213T>A c.3274T>A (p.Ser1092Thr) c.3268T>A (p.Ser1090Thr) | ClinVar dbSNP |
16 | g.23603516G>A | CA494173549 | PALB2 | c.3510C>T (p.Asp1170=) c.*989C>T (n.*989C>T) c.*139C>T (n.*139C>T) c.3348C>T (p.Asp1116=) c.2619C>T (p.Asp873=) n.4851C>T c.2457C>T (p.Asp819=) n.4024C>T n.2708C>T n.2199C>T c.*281C>T (n.*281C>T) c.1038C>T (p.Asp346=) c.3504C>T (p.Asp1168=) c.270C>T n.4212C>T c.3273C>T (p.Asp1091=) c.3267C>T (p.Asp1089=) | ClinVar dbSNP |
16 | g.23603516G>C | CA395137887 | PALB2 | c.3510C>G (p.Asp1170Glu) c.*989C>G (n.*989C>G) c.*139C>G (n.*139C>G) c.3348C>G (p.Asp1116Glu) c.2619C>G (p.Asp873Glu) n.4851C>G c.2457C>G (p.Asp819Glu) n.4024C>G n.2708C>G n.2199C>G c.*281C>G (n.*281C>G) c.1038C>G (p.Asp346Glu) c.3504C>G (p.Asp1168Glu) c.270C>G n.4212C>G c.3273C>G (p.Asp1091Glu) c.3267C>G (p.Asp1089Glu) | ClinVar dbSNP |
16 | g.23603516G= | CA2213424329 | PALB2 | c.3510C= (p.Asp1170=) c.*989C= (n.*989C=) c.*139C= (n.*139C=) c.3348C= (p.Asp1116=) c.2619C= (p.Asp873=) n.4851C= c.2457C= (p.Asp819=) n.4024C= n.2708C= n.2199C= c.*281C= (n.*281C=) c.1038C= (p.Asp346=) c.3504C= (p.Asp1168=) c.270C= n.4212C= c.3273C= (p.Asp1091=) c.3267C= (p.Asp1089=) | |
16 | g.23603516G>T | CA395137888 | PALB2 | c.3510C>A (p.Asp1170Glu) c.*989C>A (n.*989C>A) c.*139C>A (n.*139C>A) c.3348C>A (p.Asp1116Glu) c.2619C>A (p.Asp873Glu) n.4851C>A c.2457C>A (p.Asp819Glu) n.4024C>A n.2708C>A n.2199C>A c.*281C>A (n.*281C>A) c.1038C>A (p.Asp346Glu) c.3504C>A (p.Asp1168Glu) c.270C>A n.4212C>A c.3273C>A (p.Asp1091Glu) c.3267C>A (p.Asp1089Glu) | ClinVar |
16 | g.23603518_23603521del | CA2573152144 | PALB2 | c.3507_3510del (p.Asp1170LeufsTer22) c.*986_*989del (n.*986_*989del) c.*136_*139del (n.*136_*139del) c.3345_3348del (p.Asp1116LeufsTer22) c.2616_2619del (p.Asp873LeufsTer22) n.4848_4851del c.2454_2457del (p.Asp819LeufsTer22) n.4021_4024del n.2705_2708del n.2196_2199del c.*278_*281del (n.*278_*281del) c.1035_1038del (p.Asp346LeufsTer22) c.3501_3504del (p.Asp1168LeufsTer22) c.267_270del n.4209_4212del c.3270_3273del (p.Asp1091LeufsTer22) c.3264_3267del (p.Asp1089LeufsTer22) | ClinVar dbSNP |
16 | g.23603517T>A | CA395137890 | PALB2 | c.3509A>T (p.Asp1170Val) c.*988A>T (n.*988A>T) c.*138A>T (n.*138A>T) c.3347A>T (p.Asp1116Val) c.2618A>T (p.Asp873Val) n.4850A>T c.2456A>T (p.Asp819Val) n.4023A>T n.2707A>T n.2198A>T c.*280A>T (n.*280A>T) c.1037A>T (p.Asp346Val) c.3503A>T (p.Asp1168Val) c.269A>T n.4211A>T c.3272A>T (p.Asp1091Val) c.3266A>T (p.Asp1089Val) | dbSNP |
16 | g.23603517T>C | CA395137891 | PALB2 | c.3509A>G (p.Asp1170Gly) c.*988A>G (n.*988A>G) c.*138A>G (n.*138A>G) c.3347A>G (p.Asp1116Gly) c.2618A>G (p.Asp873Gly) n.4850A>G c.2456A>G (p.Asp819Gly) n.4023A>G n.2707A>G n.2198A>G c.*280A>G (n.*280A>G) c.1037A>G (p.Asp346Gly) c.3503A>G (p.Asp1168Gly) c.269A>G n.4211A>G c.3272A>G (p.Asp1091Gly) c.3266A>G (p.Asp1089Gly) | COSMIC |
16 | g.23603517T>G | CA395137893 | PALB2 | c.3509A>C (p.Asp1170Ala) c.*988A>C (n.*988A>C) c.*138A>C (n.*138A>C) c.3347A>C (p.Asp1116Ala) c.2618A>C (p.Asp873Ala) n.4850A>C c.2456A>C (p.Asp819Ala) n.4023A>C n.2707A>C n.2198A>C c.*280A>C (n.*280A>C) c.1037A>C (p.Asp346Ala) c.3503A>C (p.Asp1168Ala) c.269A>C n.4211A>C c.3272A>C (p.Asp1091Ala) c.3266A>C (p.Asp1089Ala) | |
16 | g.23603518C>A | CA395137895 | PALB2 | c.3508G>T (p.Asp1170Tyr) c.*987G>T (n.*987G>T) c.*137G>T (n.*137G>T) c.3346G>T (p.Asp1116Tyr) c.2617G>T (p.Asp873Tyr) n.4849G>T c.2455G>T (p.Asp819Tyr) n.4022G>T n.2706G>T n.2197G>T c.*279G>T (n.*279G>T) c.1036G>T (p.Asp346Tyr) c.3502G>T (p.Asp1168Tyr) c.268G>T n.4210G>T c.3271G>T (p.Asp1091Tyr) c.3265G>T (p.Asp1089Tyr) | dbSNP |
16 | g.23603518C>G | CA395137896 | PALB2 | c.3508G>C (p.Asp1170His) c.*987G>C (n.*987G>C) c.*137G>C (n.*137G>C) c.3346G>C (p.Asp1116His) c.2617G>C (p.Asp873His) n.4849G>C c.2455G>C (p.Asp819His) n.4022G>C n.2706G>C n.2197G>C c.*279G>C (n.*279G>C) c.1036G>C (p.Asp346His) c.3502G>C (p.Asp1168His) c.268G>C n.4210G>C c.3271G>C (p.Asp1091His) c.3265G>C (p.Asp1089His) | dbSNP |
16 | g.23603518C>T | CA395137897 | PALB2 | c.3508G>A (p.Asp1170Asn) c.*987G>A (n.*987G>A) c.*137G>A (n.*137G>A) c.3346G>A (p.Asp1116Asn) c.2617G>A (p.Asp873Asn) n.4849G>A c.2455G>A (p.Asp819Asn) n.4022G>A n.2706G>A n.2197G>A c.*279G>A (n.*279G>A) c.1036G>A (p.Asp346Asn) c.3502G>A (p.Asp1168Asn) c.268G>A n.4210G>A c.3271G>A (p.Asp1091Asn) c.3265G>A (p.Asp1089Asn) | dbSNP |
16 | g.23603519_23603523del | CA2573152145 | PALB2 | c.3504_3508del (p.Thr1169LeufsTer21) c.*983_*987del (n.*983_*987del) c.*133_*137del (n.*133_*137del) c.3342_3346del (p.Thr1115LeufsTer21) c.2613_2617del (p.Thr872LeufsTer21) n.4845_4849del c.2451_2455del (p.Thr818LeufsTer21) n.4018_4022del n.2702_2706del n.2193_2197del c.*275_*279del (n.*275_*279del) c.1032_1036del (p.Thr345LeufsTer21) c.3498_3502del (p.Thr1167LeufsTer21) c.264_268del n.4206_4210del c.3267_3271del (p.Thr1090LeufsTer21) c.3261_3265del (p.Thr1088LeufsTer21) | ClinVar dbSNP |
16 | g.23603519T>A | CA494173552 | PALB2 | c.3507A>T (p.Thr1169=) c.*986A>T (n.*986A>T) c.*136A>T (n.*136A>T) c.3345A>T (p.Thr1115=) c.2616A>T (p.Thr872=) n.4848A>T c.2454A>T (p.Thr818=) n.4021A>T n.2705A>T n.2196A>T c.*278A>T (n.*278A>T) c.1035A>T (p.Thr345=) c.3501A>T (p.Thr1167=) c.267A>T n.4209A>T c.3270A>T (p.Thr1090=) c.3264A>T (p.Thr1088=) | |
16 | g.23603519T>C | CA494173553 | PALB2 | c.3507A>G (p.Thr1169=) c.*986A>G (n.*986A>G) c.*136A>G (n.*136A>G) c.3345A>G (p.Thr1115=) c.2616A>G (p.Thr872=) n.4848A>G c.2454A>G (p.Thr818=) n.4021A>G n.2705A>G n.2196A>G c.*278A>G (n.*278A>G) c.1035A>G (p.Thr345=) c.3501A>G (p.Thr1167=) c.267A>G n.4209A>G c.3270A>G (p.Thr1090=) c.3264A>G (p.Thr1088=) | ClinVar |
16 | g.23603519T>G | CA494173554 | PALB2 | c.3507A>C (p.Thr1169=) c.*986A>C (n.*986A>C) c.*136A>C (n.*136A>C) c.3345A>C (p.Thr1115=) c.2616A>C (p.Thr872=) n.4848A>C c.2454A>C (p.Thr818=) n.4021A>C n.2705A>C n.2196A>C c.*278A>C (n.*278A>C) c.1035A>C (p.Thr345=) c.3501A>C (p.Thr1167=) c.267A>C n.4209A>C c.3270A>C (p.Thr1090=) c.3264A>C (p.Thr1088=) | |
16 | g.23603520G>A | CA395137900 | PALB2 | c.3506C>T (p.Thr1169Ile) c.*985C>T (n.*985C>T) c.*135C>T (n.*135C>T) c.3344C>T (p.Thr1115Ile) c.2615C>T (p.Thr872Ile) n.4847C>T c.2453C>T (p.Thr818Ile) n.4020C>T n.2704C>T n.2195C>T c.*277C>T (n.*277C>T) c.1034C>T (p.Thr345Ile) c.3500C>T (p.Thr1167Ile) c.266C>T n.4208C>T c.3269C>T (p.Thr1090Ile) c.3263C>T (p.Thr1088Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603520G>C | CA395137901 | PALB2 | c.3506C>G (p.Thr1169Arg) c.*985C>G (n.*985C>G) c.*135C>G (n.*135C>G) c.3344C>G (p.Thr1115Arg) c.2615C>G (p.Thr872Arg) n.4847C>G c.2453C>G (p.Thr818Arg) n.4020C>G n.2704C>G n.2195C>G c.*277C>G (n.*277C>G) c.1034C>G (p.Thr345Arg) c.3500C>G (p.Thr1167Arg) c.266C>G n.4208C>G c.3269C>G (p.Thr1090Arg) c.3263C>G (p.Thr1088Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603520G= | CA2213424332 | PALB2 | c.3506C= (p.Thr1169=) c.*985C= (n.*985C=) c.*135C= (n.*135C=) c.3344C= (p.Thr1115=) c.2615C= (p.Thr872=) n.4847C= c.2453C= (p.Thr818=) n.4020C= n.2704C= n.2195C= c.*277C= (n.*277C=) c.1034C= (p.Thr345=) c.3500C= (p.Thr1167=) c.266C= n.4208C= c.3269C= (p.Thr1090=) c.3263C= (p.Thr1088=) | |
16 | g.23603520G>T | CA395137902 | PALB2 | c.3506C>A (p.Thr1169Lys) c.*985C>A (n.*985C>A) c.*135C>A (n.*135C>A) c.3344C>A (p.Thr1115Lys) c.2615C>A (p.Thr872Lys) n.4847C>A c.2453C>A (p.Thr818Lys) n.4020C>A n.2704C>A n.2195C>A c.*277C>A (n.*277C>A) c.1034C>A (p.Thr345Lys) c.3500C>A (p.Thr1167Lys) c.266C>A n.4208C>A c.3269C>A (p.Thr1090Lys) c.3263C>A (p.Thr1088Lys) | |
16 | g.23603521T>A | CA395137905 | PALB2 | c.3505A>T (p.Thr1169Ser) c.*984A>T (n.*984A>T) c.*134A>T (n.*134A>T) c.3343A>T (p.Thr1115Ser) c.2614A>T (p.Thr872Ser) n.4846A>T c.2452A>T (p.Thr818Ser) n.4019A>T n.2703A>T n.2194A>T c.*276A>T (n.*276A>T) c.1033A>T (p.Thr345Ser) c.3499A>T (p.Thr1167Ser) c.265A>T n.4207A>T c.3268A>T (p.Thr1090Ser) c.3262A>T (p.Thr1088Ser) | dbSNP |
16 | g.23603521T>C | CA395137906 | PALB2 | c.3505A>G (p.Thr1169Ala) c.*984A>G (n.*984A>G) c.*134A>G (n.*134A>G) c.3343A>G (p.Thr1115Ala) c.2614A>G (p.Thr872Ala) n.4846A>G c.2452A>G (p.Thr818Ala) n.4019A>G n.2703A>G n.2194A>G c.*276A>G (n.*276A>G) c.1033A>G (p.Thr345Ala) c.3499A>G (p.Thr1167Ala) c.265A>G n.4207A>G c.3268A>G (p.Thr1090Ala) c.3262A>G (p.Thr1088Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.23603521T>G | CA395137907 | PALB2 | c.3505A>C (p.Thr1169Pro) c.*984A>C (n.*984A>C) c.*134A>C (n.*134A>C) c.3343A>C (p.Thr1115Pro) c.2614A>C (p.Thr872Pro) n.4846A>C c.2452A>C (p.Thr818Pro) n.4019A>C n.2703A>C n.2194A>C c.*276A>C (n.*276A>C) c.1033A>C (p.Thr345Pro) c.3499A>C (p.Thr1167Pro) c.265A>C n.4207A>C c.3268A>C (p.Thr1090Pro) c.3262A>C (p.Thr1088Pro) | ClinVar dbSNP |
16 | g.23603521T= | CA2213424336 | PALB2 | c.3505A= (p.Thr1169=) c.*984A= (n.*984A=) c.*134A= (n.*134A=) c.3343A= (p.Thr1115=) c.2614A= (p.Thr872=) n.4846A= c.2452A= (p.Thr818=) n.4019A= n.2703A= n.2194A= c.*276A= (n.*276A=) c.1033A= (p.Thr345=) c.3499A= (p.Thr1167=) c.265A= n.4207A= c.3268A= (p.Thr1090=) c.3262A= (p.Thr1088=) | |
16 | g.23603521_23603523delinsTAC | CA2213424335 | PALB2 | c.3503_3505delinsGTA (p.Gly1168=) c.*982_*984delinsGTA (n.*982_*984delinsGTA) c.*132_*134delinsGTA (n.*132_*134delinsGTA) c.3341_3343delinsGTA (p.Gly1114=) c.2612_2614delinsGTA (p.Gly871=) n.4844_4846delinsGTA c.2450_2452delinsGTA (p.Gly817=) n.4017_4019delinsGTA n.2701_2703delinsGTA n.2192_2194delinsGTA c.*274_*276delinsGTA (n.*274_*276delinsGTA) c.1031_1033delinsGTA (p.Gly344=) c.3497_3499delinsGTA (p.Gly1166=) c.263_265delinsGTA n.4205_4207delinsGTA c.3266_3268delinsGTA (p.Gly1089=) c.3260_3262delinsGTA (p.Gly1087=) | |
16 | g.23603522A>C | CA494173556 | PALB2 | c.3504T>G (p.Gly1168=) c.*983T>G (n.*983T>G) c.*133T>G (n.*133T>G) c.3342T>G (p.Gly1114=) c.2613T>G (p.Gly871=) n.4845T>G c.2451T>G (p.Gly817=) n.4018T>G n.2702T>G n.2193T>G c.*275T>G (n.*275T>G) c.1032T>G (p.Gly344=) c.3498T>G (p.Gly1166=) c.264T>G n.4206T>G c.3267T>G (p.Gly1089=) c.3261T>G (p.Gly1087=) | |
16 | g.23603522A>G | CA494173558 | PALB2 | c.3504T>C (p.Gly1168=) c.*983T>C (n.*983T>C) c.*133T>C (n.*133T>C) c.3342T>C (p.Gly1114=) c.2613T>C (p.Gly871=) n.4845T>C c.2451T>C (p.Gly817=) n.4018T>C n.2702T>C n.2193T>C c.*275T>C (n.*275T>C) c.1032T>C (p.Gly344=) c.3498T>C (p.Gly1166=) c.264T>C n.4206T>C c.3267T>C (p.Gly1089=) c.3261T>C (p.Gly1087=) | COSMIC |
16 | g.23603522A>T | CA494173559 | PALB2 | c.3504T>A (p.Gly1168=) c.*983T>A (n.*983T>A) c.*133T>A (n.*133T>A) c.3342T>A (p.Gly1114=) c.2613T>A (p.Gly871=) n.4845T>A c.2451T>A (p.Gly817=) n.4018T>A n.2702T>A n.2193T>A c.*275T>A (n.*275T>A) c.1032T>A (p.Gly344=) c.3498T>A (p.Gly1166=) c.264T>A n.4206T>A c.3267T>A (p.Gly1089=) c.3261T>A (p.Gly1087=) | ClinVar dbSNP |
16 | g.23603522_23603523del | CA294564 | PALB2 | c.3503_3504del (p.Gly1168AspfsTer23) c.*982_*983del (n.*982_*983del) c.*132_*133del (n.*132_*133del) c.3341_3342del (p.Gly1114AspfsTer23) c.2612_2613del (p.Gly871AspfsTer23) n.4844_4845del c.2450_2451del (p.Gly817AspfsTer23) n.4017_4018del n.2701_2702del n.2192_2193del c.*274_*275del (n.*274_*275del) c.1031_1032del (p.Gly344AspfsTer23) c.3497_3498del (p.Gly1166AspfsTer23) c.263_264del n.4205_4206del c.3266_3267del (p.Gly1089AspfsTer23) c.3260_3261del (p.Gly1087AspfsTer23) | ClinVar dbSNP |
16 | g.23603522_23603523delinsAC | CA2213424338 | PALB2 | c.3503_3504delinsGT (p.Gly1168=) c.*982_*983delinsGT (n.*982_*983delinsGT) c.*132_*133delinsGT (n.*132_*133delinsGT) c.3341_3342delinsGT (p.Gly1114=) c.2612_2613delinsGT (p.Gly871=) n.4844_4845delinsGT c.2450_2451delinsGT (p.Gly817=) n.4017_4018delinsGT n.2701_2702delinsGT n.2192_2193delinsGT c.*274_*275delinsGT (n.*274_*275delinsGT) c.1031_1032delinsGT (p.Gly344=) c.3497_3498delinsGT (p.Gly1166=) c.263_264delinsGT n.4205_4206delinsGT c.3266_3267delinsGT (p.Gly1089=) c.3260_3261delinsGT (p.Gly1087=) | |
16 | g.23603523C>A | CA395137910 | PALB2 | c.3503G>T (p.Gly1168Val) c.*982G>T (n.*982G>T) c.*132G>T (n.*132G>T) c.3341G>T (p.Gly1114Val) c.2612G>T (p.Gly871Val) n.4844G>T c.2450G>T (p.Gly817Val) n.4017G>T n.2701G>T n.2192G>T c.*274G>T (n.*274G>T) c.1031G>T (p.Gly344Val) c.3497G>T (p.Gly1166Val) c.263G>T n.4205G>T c.3266G>T (p.Gly1089Val) c.3260G>T (p.Gly1087Val) | dbSNP |
16 | g.23603523C>G | CA395137912 | PALB2 | c.3503G>C (p.Gly1168Ala) c.*982G>C (n.*982G>C) c.*132G>C (n.*132G>C) c.3341G>C (p.Gly1114Ala) c.2612G>C (p.Gly871Ala) n.4844G>C c.2450G>C (p.Gly817Ala) n.4017G>C n.2701G>C n.2192G>C c.*274G>C (n.*274G>C) c.1031G>C (p.Gly344Ala) c.3497G>C (p.Gly1166Ala) c.263G>C n.4205G>C c.3266G>C (p.Gly1089Ala) c.3260G>C (p.Gly1087Ala) | dbSNP |
16 | g.23603523C>T | CA395137913 | PALB2 | c.3503G>A (p.Gly1168Asp) c.*982G>A (n.*982G>A) c.*132G>A (n.*132G>A) c.3341G>A (p.Gly1114Asp) c.2612G>A (p.Gly871Asp) n.4844G>A c.2450G>A (p.Gly817Asp) n.4017G>A n.2701G>A n.2192G>A c.*274G>A (n.*274G>A) c.1031G>A (p.Gly344Asp) c.3497G>A (p.Gly1166Asp) c.263G>A n.4205G>A c.3266G>A (p.Gly1089Asp) c.3260G>A (p.Gly1087Asp) | ClinVar dbSNP |
16 | g.23603525del | CA151249 | PALB2 | c.3503del (p.Gly1168ValfsTer25) c.*982del (n.*982del) c.*132del (n.*132del) c.3341del (p.Gly1114ValfsTer25) c.2612del (p.Gly871ValfsTer25) n.4844del c.2450del (p.Gly817ValfsTer25) n.4017del n.2701del n.2192del c.*274del (n.*274del) c.1031del (p.Gly344ValfsTer25) c.3497del (p.Gly1166ValfsTer25) c.263del n.4205del c.3266del (p.Gly1089ValfsTer25) c.3260del (p.Gly1087ValfsTer25) | ClinVar dbSNP |
16 | g.23603524C>A | CA395137914 | PALB2 | c.3502G>T (p.Gly1168Cys) c.*981G>T (n.*981G>T) c.*131G>T (n.*131G>T) c.3340G>T (p.Gly1114Cys) c.2611G>T (p.Gly871Cys) n.4843G>T c.2449G>T (p.Gly817Cys) n.4016G>T n.2700G>T n.2191G>T c.*273G>T (n.*273G>T) c.1030G>T (p.Gly344Cys) c.3496G>T (p.Gly1166Cys) c.262G>T n.4204G>T c.3265G>T (p.Gly1089Cys) c.3259G>T (p.Gly1087Cys) | ClinVar dbSNP |
16 | g.23603524C= | CA2213424341 | PALB2 | c.3502G= (p.Gly1168=) c.*981G= (n.*981G=) c.*131G= (n.*131G=) c.3340G= (p.Gly1114=) c.2611G= (p.Gly871=) n.4843G= c.2449G= (p.Gly817=) n.4016G= n.2700G= n.2191G= c.*273G= (n.*273G=) c.1030G= (p.Gly344=) c.3496G= (p.Gly1166=) c.262G= n.4204G= c.3265G= (p.Gly1089=) c.3259G= (p.Gly1087=) | |
16 | g.23603524C>G | CA395137916 | PALB2 | c.3502G>C (p.Gly1168Arg) c.*981G>C (n.*981G>C) c.*131G>C (n.*131G>C) c.3340G>C (p.Gly1114Arg) c.2611G>C (p.Gly871Arg) n.4843G>C c.2449G>C (p.Gly817Arg) n.4016G>C n.2700G>C n.2191G>C c.*273G>C (n.*273G>C) c.1030G>C (p.Gly344Arg) c.3496G>C (p.Gly1166Arg) c.262G>C n.4204G>C c.3265G>C (p.Gly1089Arg) c.3259G>C (p.Gly1087Arg) | dbSNP |
16 | g.23603524C>T | CA395137918 | PALB2 | c.3502G>A (p.Gly1168Ser) c.*981G>A (n.*981G>A) c.*131G>A (n.*131G>A) c.3340G>A (p.Gly1114Ser) c.2611G>A (p.Gly871Ser) n.4843G>A c.2449G>A (p.Gly817Ser) n.4016G>A n.2700G>A n.2191G>A c.*273G>A (n.*273G>A) c.1030G>A (p.Gly344Ser) c.3496G>A (p.Gly1166Ser) c.262G>A n.4204G>A c.3265G>A (p.Gly1089Ser) c.3259G>A (p.Gly1087Ser) | ClinVar dbSNP |
16 | g.23603525C>A | CA494173561 | PALB2 | c.3501G>T (p.Ser1167=) c.*980G>T (n.*980G>T) c.*130G>T (n.*130G>T) c.3339G>T (p.Ser1113=) c.2610G>T (p.Ser870=) n.4842G>T c.2448G>T (p.Ser816=) n.4015G>T n.2699G>T n.2190G>T c.*272G>T (n.*272G>T) c.1029G>T (p.Ser343=) c.3495G>T (p.Ser1165=) c.261G>T n.4203G>T c.3264G>T (p.Ser1088=) c.3258G>T (p.Ser1086=) | |
16 | g.23603525C= | CA2213424344 | PALB2 | c.3501G= (p.Ser1167=) c.*980G= (n.*980G=) c.*130G= (n.*130G=) c.3339G= (p.Ser1113=) c.2610G= (p.Ser870=) n.4842G= c.2448G= (p.Ser816=) n.4015G= n.2699G= n.2190G= c.*272G= (n.*272G=) c.1029G= (p.Ser343=) c.3495G= (p.Ser1165=) c.261G= n.4203G= c.3264G= (p.Ser1088=) c.3258G= (p.Ser1086=) | |
16 | g.23603525C>G | CA494173562 | PALB2 | c.3501G>C (p.Ser1167=) c.*980G>C (n.*980G>C) c.*130G>C (n.*130G>C) c.3339G>C (p.Ser1113=) c.2610G>C (p.Ser870=) n.4842G>C c.2448G>C (p.Ser816=) n.4015G>C n.2699G>C n.2190G>C c.*272G>C (n.*272G>C) c.1029G>C (p.Ser343=) c.3495G>C (p.Ser1165=) c.261G>C n.4203G>C c.3264G>C (p.Ser1088=) c.3258G>C (p.Ser1086=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603525C>T | CA292653 | PALB2 | c.3501G>A (p.Ser1167=) c.*980G>A (n.*980G>A) c.*130G>A (n.*130G>A) c.3339G>A (p.Ser1113=) c.2610G>A (p.Ser870=) n.4842G>A c.2448G>A (p.Ser816=) n.4015G>A n.2699G>A n.2190G>A c.*272G>A (n.*272G>A) c.1029G>A (p.Ser343=) c.3495G>A (p.Ser1165=) c.261G>A n.4203G>A c.3264G>A (p.Ser1088=) c.3258G>A (p.Ser1086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603526_23603528dup | CA2825002423 | PALB2 | c.3499_3501dup (p.Ser1167_Gly1168insSer) c.*978_*980dup (n.*978_*980dup) c.*128_*130dup (n.*128_*130dup) c.3337_3339dup (p.Ser1113_Gly1114insSer) c.2608_2610dup (p.Ser870_Gly871insSer) n.4840_4842dup c.2446_2448dup (p.Ser816_Gly817insSer) n.4013_4015dup n.2697_2699dup n.2188_2190dup c.*270_*272dup (n.*270_*272dup) c.1027_1029dup (p.Ser343_Gly344insSer) c.3493_3495dup (p.Ser1165_Gly1166insSer) c.259_261dup n.4201_4203dup c.3262_3264dup (p.Ser1088_Gly1089insSer) c.3256_3258dup (p.Ser1086_Gly1087insSer) | ClinVar |
16 | g.23603526G>A | CA7963328 | PALB2 | c.3500C>T (p.Ser1167Leu) c.*979C>T (n.*979C>T) c.*129C>T (n.*129C>T) c.3338C>T (p.Ser1113Leu) c.2609C>T (p.Ser870Leu) n.4841C>T c.2447C>T (p.Ser816Leu) n.4014C>T n.2698C>T n.2189C>T c.*271C>T (n.*271C>T) c.1028C>T (p.Ser343Leu) c.3494C>T (p.Ser1165Leu) c.260C>T n.4202C>T c.3263C>T (p.Ser1088Leu) c.3257C>T (p.Ser1086Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23603526G>C | CA395137921 | PALB2 | c.3500C>G (p.Ser1167Trp) c.*979C>G (n.*979C>G) c.*129C>G (n.*129C>G) c.3338C>G (p.Ser1113Trp) c.2609C>G (p.Ser870Trp) n.4841C>G c.2447C>G (p.Ser816Trp) n.4014C>G n.2698C>G n.2189C>G c.*271C>G (n.*271C>G) c.1028C>G (p.Ser343Trp) c.3494C>G (p.Ser1165Trp) c.260C>G n.4202C>G c.3263C>G (p.Ser1088Trp) c.3257C>G (p.Ser1086Trp) | ClinVar dbSNP |
16 | g.23603526G= | CA2213424346 | PALB2 | c.3500C= (p.Ser1167=) c.*979C= (n.*979C=) c.*129C= (n.*129C=) c.3338C= (p.Ser1113=) c.2609C= (p.Ser870=) n.4841C= c.2447C= (p.Ser816=) n.4014C= n.2698C= n.2189C= c.*271C= (n.*271C=) c.1028C= (p.Ser343=) c.3494C= (p.Ser1165=) c.260C= n.4202C= c.3263C= (p.Ser1088=) c.3257C= (p.Ser1086=) | |
16 | g.23603526G>T | CA395137923 | PALB2 | c.3500C>A (p.Ser1167Ter) c.*979C>A (n.*979C>A) c.*129C>A (n.*129C>A) c.3338C>A (p.Ser1113Ter) c.2609C>A (p.Ser870Ter) n.4841C>A c.2447C>A (p.Ser816Ter) n.4014C>A n.2698C>A n.2189C>A c.*271C>A (n.*271C>A) c.1028C>A (p.Ser343Ter) c.3494C>A (p.Ser1165Ter) c.260C>A n.4202C>A c.3263C>A (p.Ser1088Ter) c.3257C>A (p.Ser1086Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.23603526dup | CA2499223398 | PALB2 | c.3500dup (p.Thr1169TyrfsTer23) c.*979dup (n.*979dup) c.*129dup (n.*129dup) c.3338dup (p.Thr1115TyrfsTer23) c.2609dup (p.Thr872TyrfsTer23) n.4841dup c.2447dup (p.Thr818TyrfsTer23) n.4014dup n.2698dup n.2189dup c.*271dup (n.*271dup) c.1028dup (p.Thr345TyrfsTer23) c.3494dup (p.Thr1167TyrfsTer23) c.260dup n.4202dup c.3263dup (p.Thr1090TyrfsTer23) c.3257dup (p.Thr1088TyrfsTer23) | ClinVar dbSNP |
16 | g.23603527A= | CA2213424348 | PALB2 | c.3499T= (p.Ser1167=) c.*978T= (n.*978T=) c.*128T= (n.*128T=) c.3337T= (p.Ser1113=) c.2608T= (p.Ser870=) n.4840T= c.2446T= (p.Ser816=) n.4013T= n.2697T= n.2188T= c.*270T= (n.*270T=) c.1027T= (p.Ser343=) c.3493T= (p.Ser1165=) c.259T= n.4201T= c.3262T= (p.Ser1088=) c.3256T= (p.Ser1086=) | |
16 | g.23603527A>C | CA395137926 | PALB2 | c.3499T>G (p.Ser1167Ala) c.*978T>G (n.*978T>G) c.*128T>G (n.*128T>G) c.3337T>G (p.Ser1113Ala) c.2608T>G (p.Ser870Ala) n.4840T>G c.2446T>G (p.Ser816Ala) n.4013T>G n.2697T>G n.2188T>G c.*270T>G (n.*270T>G) c.1027T>G (p.Ser343Ala) c.3493T>G (p.Ser1165Ala) c.259T>G n.4201T>G c.3262T>G (p.Ser1088Ala) c.3256T>G (p.Ser1086Ala) | dbSNP |
16 | g.23603527A>G | CA7963329 | PALB2 | c.3499T>C (p.Ser1167Pro) c.*978T>C (n.*978T>C) c.*128T>C (n.*128T>C) c.3337T>C (p.Ser1113Pro) c.2608T>C (p.Ser870Pro) n.4840T>C c.2446T>C (p.Ser816Pro) n.4013T>C n.2697T>C n.2188T>C c.*270T>C (n.*270T>C) c.1027T>C (p.Ser343Pro) c.3493T>C (p.Ser1165Pro) c.259T>C n.4201T>C c.3262T>C (p.Ser1088Pro) c.3256T>C (p.Ser1086Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603527A>T | CA395137924 | PALB2 | c.3499T>A (p.Ser1167Thr) c.*978T>A (n.*978T>A) c.*128T>A (n.*128T>A) c.3337T>A (p.Ser1113Thr) c.2608T>A (p.Ser870Thr) n.4840T>A c.2446T>A (p.Ser816Thr) n.4013T>A n.2697T>A n.2188T>A c.*270T>A (n.*270T>A) c.1027T>A (p.Ser343Thr) c.3493T>A (p.Ser1165Thr) c.259T>A n.4201T>A c.3262T>A (p.Ser1088Thr) c.3256T>A (p.Ser1086Thr) | dbSNP |
16 | g.23603528C>A | CA167348 | PALB2 | c.3498G>T (p.Trp1166Cys) c.*977G>T (n.*977G>T) c.*127G>T (n.*127G>T) c.3336G>T (p.Trp1112Cys) c.2607G>T (p.Trp869Cys) n.4839G>T c.2445G>T (p.Trp815Cys) n.4012G>T n.2696G>T n.2187G>T c.*269G>T (n.*269G>T) c.1026G>T (p.Trp342Cys) c.3492G>T (p.Trp1164Cys) c.258G>T n.4200G>T c.3261G>T (p.Trp1087Cys) c.3255G>T (p.Trp1085Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603528C= | CA2213424351 | PALB2 | c.3498G= (p.Trp1166=) c.*977G= (n.*977G=) c.*127G= (n.*127G=) c.3336G= (p.Trp1112=) c.2607G= (p.Trp869=) n.4839G= c.2445G= (p.Trp815=) n.4012G= n.2696G= n.2187G= c.*269G= (n.*269G=) c.1026G= (p.Trp342=) c.3492G= (p.Trp1164=) c.258G= n.4200G= c.3261G= (p.Trp1087=) c.3255G= (p.Trp1085=) | |
16 | g.23603528C>G | CA395137929 | PALB2 | c.3498G>C (p.Trp1166Cys) c.*977G>C (n.*977G>C) c.*127G>C (n.*127G>C) c.3336G>C (p.Trp1112Cys) c.2607G>C (p.Trp869Cys) n.4839G>C c.2445G>C (p.Trp815Cys) n.4012G>C n.2696G>C n.2187G>C c.*269G>C (n.*269G>C) c.1026G>C (p.Trp342Cys) c.3492G>C (p.Trp1164Cys) c.258G>C n.4200G>C c.3261G>C (p.Trp1087Cys) c.3255G>C (p.Trp1085Cys) | dbSNP |
16 | g.23603528C>T | CA10584499 | PALB2 | c.3498G>A (p.Trp1166Ter) c.*977G>A (n.*977G>A) c.*127G>A (n.*127G>A) c.3336G>A (p.Trp1112Ter) c.2607G>A (p.Trp869Ter) n.4839G>A c.2445G>A (p.Trp815Ter) n.4012G>A n.2696G>A n.2187G>A c.*269G>A (n.*269G>A) c.1026G>A (p.Trp342Ter) c.3492G>A (p.Trp1164Ter) c.258G>A n.4200G>A c.3261G>A (p.Trp1087Ter) c.3255G>A (p.Trp1085Ter) | ClinVar dbSNP |
16 | g.23603529C>A | CA395137932 | PALB2 | c.3497G>T (p.Trp1166Leu) c.*976G>T (n.*976G>T) c.*126G>T (n.*126G>T) c.3335G>T (p.Trp1112Leu) c.2606G>T (p.Trp869Leu) n.4838G>T c.2444G>T (p.Trp815Leu) n.4011G>T n.2695G>T n.2186G>T c.*268G>T (n.*268G>T) c.1025G>T (p.Trp342Leu) c.3491G>T (p.Trp1164Leu) c.257G>T n.4199G>T c.3260G>T (p.Trp1087Leu) c.3254G>T (p.Trp1085Leu) | dbSNP |
16 | g.23603529C= | CA2213424354 | PALB2 | c.3497G= (p.Trp1166=) c.*976G= (n.*976G=) c.*126G= (n.*126G=) c.3335G= (p.Trp1112=) c.2606G= (p.Trp869=) n.4838G= c.2444G= (p.Trp815=) n.4011G= n.2695G= n.2186G= c.*268G= (n.*268G=) c.1025G= (p.Trp342=) c.3491G= (p.Trp1164=) c.257G= n.4199G= c.3260G= (p.Trp1087=) c.3254G= (p.Trp1085=) | |
16 | g.23603529C>G | CA395137934 | PALB2 | c.3497G>C (p.Trp1166Ser) c.*976G>C (n.*976G>C) c.*126G>C (n.*126G>C) c.3335G>C (p.Trp1112Ser) c.2606G>C (p.Trp869Ser) n.4838G>C c.2444G>C (p.Trp815Ser) n.4011G>C n.2695G>C n.2186G>C c.*268G>C (n.*268G>C) c.1025G>C (p.Trp342Ser) c.3491G>C (p.Trp1164Ser) c.257G>C n.4199G>C c.3260G>C (p.Trp1087Ser) c.3254G>C (p.Trp1085Ser) | |
16 | g.23603529C>T | CA10584500 | PALB2 | c.3497G>A (p.Trp1166Ter) c.*976G>A (n.*976G>A) c.*126G>A (n.*126G>A) c.3335G>A (p.Trp1112Ter) c.2606G>A (p.Trp869Ter) n.4838G>A c.2444G>A (p.Trp815Ter) n.4011G>A n.2695G>A n.2186G>A c.*268G>A (n.*268G>A) c.1025G>A (p.Trp342Ter) c.3491G>A (p.Trp1164Ter) c.257G>A n.4199G>A c.3260G>A (p.Trp1087Ter) c.3254G>A (p.Trp1085Ter) | ClinVar dbSNP |
16 | g.23603530A= | CA2213424356 | PALB2 | c.3496T= (p.Trp1166=) c.*975T= (n.*975T=) c.*125T= (n.*125T=) c.3334T= (p.Trp1112=) c.2605T= (p.Trp869=) n.4837T= c.2443T= (p.Trp815=) n.4010T= n.2694T= n.2185T= c.*267T= (n.*267T=) c.1024T= (p.Trp342=) c.3490T= (p.Trp1164=) c.256T= n.4198T= c.3259T= (p.Trp1087=) c.3253T= (p.Trp1085=) | |
16 | g.23603530A>C | CA395137937 | PALB2 | c.3496T>G (p.Trp1166Gly) c.*975T>G (n.*975T>G) c.*125T>G (n.*125T>G) c.3334T>G (p.Trp1112Gly) c.2605T>G (p.Trp869Gly) n.4837T>G c.2443T>G (p.Trp815Gly) n.4010T>G n.2694T>G n.2185T>G c.*267T>G (n.*267T>G) c.1024T>G (p.Trp342Gly) c.3490T>G (p.Trp1164Gly) c.256T>G n.4198T>G c.3259T>G (p.Trp1087Gly) c.3253T>G (p.Trp1085Gly) | |
16 | g.23603530A>G | CA7963330 | PALB2 | c.3496T>C (p.Trp1166Arg) c.*975T>C (n.*975T>C) c.*125T>C (n.*125T>C) c.3334T>C (p.Trp1112Arg) c.2605T>C (p.Trp869Arg) n.4837T>C c.2443T>C (p.Trp815Arg) n.4010T>C n.2694T>C n.2185T>C c.*267T>C (n.*267T>C) c.1024T>C (p.Trp342Arg) c.3490T>C (p.Trp1164Arg) c.256T>C n.4198T>C c.3259T>C (p.Trp1087Arg) c.3253T>C (p.Trp1085Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603530A>T | CA395137939 | PALB2 | c.3496T>A (p.Trp1166Arg) c.*975T>A (n.*975T>A) c.*125T>A (n.*125T>A) c.3334T>A (p.Trp1112Arg) c.2605T>A (p.Trp869Arg) n.4837T>A c.2443T>A (p.Trp815Arg) n.4010T>A n.2694T>A n.2185T>A c.*267T>A (n.*267T>A) c.1024T>A (p.Trp342Arg) c.3490T>A (p.Trp1164Arg) c.256T>A n.4198T>A c.3259T>A (p.Trp1087Arg) c.3253T>A (p.Trp1085Arg) | ClinVar dbSNP |
16 | g.23603531T>A | CA395137941 | PALB2 | c.3495A>T (p.Lys1165Asn) c.*974A>T (n.*974A>T) c.*124A>T (n.*124A>T) c.3333A>T (p.Lys1111Asn) c.2604A>T (p.Lys868Asn) n.4836A>T c.2442A>T (p.Lys814Asn) n.4009A>T n.2693A>T n.2184A>T c.*266A>T (n.*266A>T) c.1023A>T (p.Lys341Asn) c.3489A>T (p.Lys1163Asn) c.255A>T n.4197A>T c.3258A>T (p.Lys1086Asn) c.3252A>T (p.Lys1084Asn) | |
16 | g.23603531T>C | CA494173567 | PALB2 | c.3495A>G (p.Lys1165=) c.*974A>G (n.*974A>G) c.*124A>G (n.*124A>G) c.3333A>G (p.Lys1111=) c.2604A>G (p.Lys868=) n.4836A>G c.2442A>G (p.Lys814=) n.4009A>G n.2693A>G n.2184A>G c.*266A>G (n.*266A>G) c.1023A>G (p.Lys341=) c.3489A>G (p.Lys1163=) c.255A>G n.4197A>G c.3258A>G (p.Lys1086=) c.3252A>G (p.Lys1084=) | |
16 | g.23603531T>G | CA395137943 | PALB2 | c.3495A>C (p.Lys1165Asn) c.*974A>C (n.*974A>C) c.*124A>C (n.*124A>C) c.3333A>C (p.Lys1111Asn) c.2604A>C (p.Lys868Asn) n.4836A>C c.2442A>C (p.Lys814Asn) n.4009A>C n.2693A>C n.2184A>C c.*266A>C (n.*266A>C) c.1023A>C (p.Lys341Asn) c.3489A>C (p.Lys1163Asn) c.255A>C n.4197A>C c.3258A>C (p.Lys1086Asn) c.3252A>C (p.Lys1084Asn) | |
16 | g.23603532T>A | CA10579911 | PALB2 | c.3494A>T (p.Lys1165Ile) c.*973A>T (n.*973A>T) c.*123A>T (n.*123A>T) c.3332A>T (p.Lys1111Ile) c.2603A>T (p.Lys868Ile) n.4835A>T c.2441A>T (p.Lys814Ile) n.4008A>T n.2692A>T n.2183A>T c.*265A>T (n.*265A>T) c.1022A>T (p.Lys341Ile) c.3488A>T (p.Lys1163Ile) c.254A>T n.4196A>T c.3257A>T (p.Lys1086Ile) c.3251A>T (p.Lys1084Ile) | ClinVar dbSNP |
16 | g.23603532T>C | CA395137947 | PALB2 | c.3494A>G (p.Lys1165Arg) c.*973A>G (n.*973A>G) c.*123A>G (n.*123A>G) c.3332A>G (p.Lys1111Arg) c.2603A>G (p.Lys868Arg) n.4835A>G c.2441A>G (p.Lys814Arg) n.4008A>G n.2692A>G n.2183A>G c.*265A>G (n.*265A>G) c.1022A>G (p.Lys341Arg) c.3488A>G (p.Lys1163Arg) c.254A>G n.4196A>G c.3257A>G (p.Lys1086Arg) c.3251A>G (p.Lys1084Arg) | dbSNP |
16 | g.23603532T>G | CA395137945 | PALB2 | c.3494A>C (p.Lys1165Thr) c.*973A>C (n.*973A>C) c.*123A>C (n.*123A>C) c.3332A>C (p.Lys1111Thr) c.2603A>C (p.Lys868Thr) n.4835A>C c.2441A>C (p.Lys814Thr) n.4008A>C n.2692A>C n.2183A>C c.*265A>C (n.*265A>C) c.1022A>C (p.Lys341Thr) c.3488A>C (p.Lys1163Thr) c.254A>C n.4196A>C c.3257A>C (p.Lys1086Thr) c.3251A>C (p.Lys1084Thr) | |
16 | g.23603532T= | CA2213424359 | PALB2 | c.3494A= (p.Lys1165=) c.*973A= (n.*973A=) c.*123A= (n.*123A=) c.3332A= (p.Lys1111=) c.2603A= (p.Lys868=) n.4835A= c.2441A= (p.Lys814=) n.4008A= n.2692A= n.2183A= c.*265A= (n.*265A=) c.1022A= (p.Lys341=) c.3488A= (p.Lys1163=) c.254A= n.4196A= c.3257A= (p.Lys1086=) c.3251A= (p.Lys1084=) | |
16 | g.23603533T>A | CA395137950 | PALB2 | c.3493A>T (p.Lys1165Ter) c.*972A>T (n.*972A>T) c.*122A>T (n.*122A>T) c.3331A>T (p.Lys1111Ter) c.2602A>T (p.Lys868Ter) n.4834A>T c.2440A>T (p.Lys814Ter) n.4007A>T n.2691A>T n.2182A>T c.*264A>T (n.*264A>T) c.1021A>T (p.Lys341Ter) c.3487A>T (p.Lys1163Ter) c.253A>T n.4195A>T c.3256A>T (p.Lys1086Ter) c.3250A>T (p.Lys1084Ter) | dbSNP |
16 | g.23603533T>C | CA279524941 | PALB2 | c.3493A>G (p.Lys1165Glu) c.*972A>G (n.*972A>G) c.*122A>G (n.*122A>G) c.3331A>G (p.Lys1111Glu) c.2602A>G (p.Lys868Glu) n.4834A>G c.2440A>G (p.Lys814Glu) n.4007A>G n.2691A>G n.2182A>G c.*264A>G (n.*264A>G) c.1021A>G (p.Lys341Glu) c.3487A>G (p.Lys1163Glu) c.253A>G n.4195A>G c.3256A>G (p.Lys1086Glu) c.3250A>G (p.Lys1084Glu) | ClinVar dbSNP |
16 | g.23603533T>G | CA395137953 | PALB2 | c.3493A>C (p.Lys1165Gln) c.*972A>C (n.*972A>C) c.*122A>C (n.*122A>C) c.3331A>C (p.Lys1111Gln) c.2602A>C (p.Lys868Gln) n.4834A>C c.2440A>C (p.Lys814Gln) n.4007A>C n.2691A>C n.2182A>C c.*264A>C (n.*264A>C) c.1021A>C (p.Lys341Gln) c.3487A>C (p.Lys1163Gln) c.253A>C n.4195A>C c.3256A>C (p.Lys1086Gln) c.3250A>C (p.Lys1084Gln) | |
16 | g.23603533T= | CA2213424361 | PALB2 | c.3493A= (p.Lys1165=) c.*972A= (n.*972A=) c.*122A= (n.*122A=) c.3331A= (p.Lys1111=) c.2602A= (p.Lys868=) n.4834A= c.2440A= (p.Lys814=) n.4007A= n.2691A= n.2182A= c.*264A= (n.*264A=) c.1021A= (p.Lys341=) c.3487A= (p.Lys1163=) c.253A= n.4195A= c.3256A= (p.Lys1086=) c.3250A= (p.Lys1084=) | |
16 | g.23603534C>A | CA494173571 | PALB2 | c.3492G>T (p.Val1164=) c.*971G>T (n.*971G>T) c.*121G>T (n.*121G>T) c.3330G>T (p.Val1110=) c.2601G>T (p.Val867=) n.4833G>T c.2439G>T (p.Val813=) n.4006G>T n.2690G>T n.2181G>T c.*263G>T (n.*263G>T) c.1020G>T (p.Val340=) c.3486G>T (p.Val1162=) c.252G>T n.4194G>T c.3255G>T (p.Val1085=) c.3249G>T (p.Val1083=) | dbSNP |
16 | g.23603534C= | CA2213424364 | PALB2 | c.3492G= (p.Val1164=) c.*971G= (n.*971G=) c.*121G= (n.*121G=) c.3330G= (p.Val1110=) c.2601G= (p.Val867=) n.4833G= c.2439G= (p.Val813=) n.4006G= n.2690G= n.2181G= c.*263G= (n.*263G=) c.1020G= (p.Val340=) c.3486G= (p.Val1162=) c.252G= n.4194G= c.3255G= (p.Val1085=) c.3249G= (p.Val1083=) | |
16 | g.23603534C>G | CA494173572 | PALB2 | c.3492G>C (p.Val1164=) c.*971G>C (n.*971G>C) c.*121G>C (n.*121G>C) c.3330G>C (p.Val1110=) c.2601G>C (p.Val867=) n.4833G>C c.2439G>C (p.Val813=) n.4006G>C n.2690G>C n.2181G>C c.*263G>C (n.*263G>C) c.1020G>C (p.Val340=) c.3486G>C (p.Val1162=) c.252G>C n.4194G>C c.3255G>C (p.Val1085=) c.3249G>C (p.Val1083=) | dbSNP |
16 | g.23603534C>T | CA494173573 | PALB2 | c.3492G>A (p.Val1164=) c.*971G>A (n.*971G>A) c.*121G>A (n.*121G>A) c.3330G>A (p.Val1110=) c.2601G>A (p.Val867=) n.4833G>A c.2439G>A (p.Val813=) n.4006G>A n.2690G>A n.2181G>A c.*263G>A (n.*263G>A) c.1020G>A (p.Val340=) c.3486G>A (p.Val1162=) c.252G>A n.4194G>A c.3255G>A (p.Val1085=) c.3249G>A (p.Val1083=) | ClinVar dbSNP |
16 | g.23603535A= | CA2213424366 | PALB2 | c.3491T= (p.Val1164=) c.*970T= (n.*970T=) c.*120T= (n.*120T=) c.3329T= (p.Val1110=) c.2600T= (p.Val867=) n.4832T= c.2438T= (p.Val813=) n.4005T= n.2689T= n.2180T= c.*262T= (n.*262T=) c.1019T= (p.Val340=) c.3485T= (p.Val1162=) c.251T= n.4193T= c.3254T= (p.Val1085=) c.3248T= (p.Val1083=) | |
16 | g.23603535A>C | CA395137955 | PALB2 | c.3491T>G (p.Val1164Gly) c.*970T>G (n.*970T>G) c.*120T>G (n.*120T>G) c.3329T>G (p.Val1110Gly) c.2600T>G (p.Val867Gly) n.4832T>G c.2438T>G (p.Val813Gly) n.4005T>G n.2689T>G n.2180T>G c.*262T>G (n.*262T>G) c.1019T>G (p.Val340Gly) c.3485T>G (p.Val1162Gly) c.251T>G n.4193T>G c.3254T>G (p.Val1085Gly) c.3248T>G (p.Val1083Gly) | |
16 | g.23603535A>G | CA395137957 | PALB2 | c.3491T>C (p.Val1164Ala) c.*970T>C (n.*970T>C) c.*120T>C (n.*120T>C) c.3329T>C (p.Val1110Ala) c.2600T>C (p.Val867Ala) n.4832T>C c.2438T>C (p.Val813Ala) n.4005T>C n.2689T>C n.2180T>C c.*262T>C (n.*262T>C) c.1019T>C (p.Val340Ala) c.3485T>C (p.Val1162Ala) c.251T>C n.4193T>C c.3254T>C (p.Val1085Ala) c.3248T>C (p.Val1083Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603535A>T | CA395137959 | PALB2 | c.3491T>A (p.Val1164Glu) c.*970T>A (n.*970T>A) c.*120T>A (n.*120T>A) c.3329T>A (p.Val1110Glu) c.2600T>A (p.Val867Glu) n.4832T>A c.2438T>A (p.Val813Glu) n.4005T>A n.2689T>A n.2180T>A c.*262T>A (n.*262T>A) c.1019T>A (p.Val340Glu) c.3485T>A (p.Val1162Glu) c.251T>A n.4193T>A c.3254T>A (p.Val1085Glu) c.3248T>A (p.Val1083Glu) | |
16 | g.23603536C>A | CA395137961 | PALB2 | c.3490G>T (p.Val1164Leu) c.*969G>T (n.*969G>T) c.*119G>T (n.*119G>T) c.3328G>T (p.Val1110Leu) c.2599G>T (p.Val867Leu) n.4831G>T c.2437G>T (p.Val813Leu) n.4004G>T n.2688G>T n.2179G>T c.*261G>T (n.*261G>T) c.1018G>T (p.Val340Leu) c.3484G>T (p.Val1162Leu) c.250G>T n.4192G>T c.3253G>T (p.Val1085Leu) c.3247G>T (p.Val1083Leu) | |
16 | g.23603536C= | CA2213424368 | PALB2 | c.3490G= (p.Val1164=) c.*969G= (n.*969G=) c.*119G= (n.*119G=) c.3328G= (p.Val1110=) c.2599G= (p.Val867=) n.4831G= c.2437G= (p.Val813=) n.4004G= n.2688G= n.2179G= c.*261G= (n.*261G=) c.1018G= (p.Val340=) c.3484G= (p.Val1162=) c.250G= n.4192G= c.3253G= (p.Val1085=) c.3247G= (p.Val1083=) | |
16 | g.23603536C>G | CA395137963 | PALB2 | c.3490G>C (p.Val1164Leu) c.*969G>C (n.*969G>C) c.*119G>C (n.*119G>C) c.3328G>C (p.Val1110Leu) c.2599G>C (p.Val867Leu) n.4831G>C c.2437G>C (p.Val813Leu) n.4004G>C n.2688G>C n.2179G>C c.*261G>C (n.*261G>C) c.1018G>C (p.Val340Leu) c.3484G>C (p.Val1162Leu) c.250G>C n.4192G>C c.3253G>C (p.Val1085Leu) c.3247G>C (p.Val1083Leu) | dbSNP |
16 | g.23603536C>T | CA16615211 | PALB2 | c.3490G>A (p.Val1164Met) c.*969G>A (n.*969G>A) c.*119G>A (n.*119G>A) c.3328G>A (p.Val1110Met) c.2599G>A (p.Val867Met) n.4831G>A c.2437G>A (p.Val813Met) n.4004G>A n.2688G>A n.2179G>A c.*261G>A (n.*261G>A) c.1018G>A (p.Val340Met) c.3484G>A (p.Val1162Met) c.250G>A n.4192G>A c.3253G>A (p.Val1085Met) c.3247G>A (p.Val1083Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603537A= | CA2213424370 | PALB2 | c.3489T= (p.Phe1163=) c.*968T= (n.*968T=) c.*118T= (n.*118T=) c.3327T= (p.Phe1109=) c.2598T= (p.Phe866=) n.4830T= c.2436T= (p.Phe812=) n.4003T= n.2687T= n.2178T= c.*260T= (n.*260T=) c.1017T= (p.Phe339=) c.3483T= (p.Phe1161=) c.249T= n.4191T= c.3252T= (p.Phe1084=) c.3246T= (p.Phe1082=) | |
16 | g.23603537A>C | CA395137965 | PALB2 | c.3489T>G (p.Phe1163Leu) c.*968T>G (n.*968T>G) c.*118T>G (n.*118T>G) c.3327T>G (p.Phe1109Leu) c.2598T>G (p.Phe866Leu) n.4830T>G c.2436T>G (p.Phe812Leu) n.4003T>G n.2687T>G n.2178T>G c.*260T>G (n.*260T>G) c.1017T>G (p.Phe339Leu) c.3483T>G (p.Phe1161Leu) c.249T>G n.4191T>G c.3252T>G (p.Phe1084Leu) c.3246T>G (p.Phe1082Leu) | |
16 | g.23603537A>G | CA187303 | PALB2 | c.3489T>C (p.Phe1163=) c.*968T>C (n.*968T>C) c.*118T>C (n.*118T>C) c.3327T>C (p.Phe1109=) c.2598T>C (p.Phe866=) n.4830T>C c.2436T>C (p.Phe812=) n.4003T>C n.2687T>C n.2178T>C c.*260T>C (n.*260T>C) c.1017T>C (p.Phe339=) c.3483T>C (p.Phe1161=) c.249T>C n.4191T>C c.3252T>C (p.Phe1084=) c.3246T>C (p.Phe1082=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603537A>T | CA395137968 | PALB2 | c.3489T>A (p.Phe1163Leu) c.*968T>A (n.*968T>A) c.*118T>A (n.*118T>A) c.3327T>A (p.Phe1109Leu) c.2598T>A (p.Phe866Leu) n.4830T>A c.2436T>A (p.Phe812Leu) n.4003T>A n.2687T>A n.2178T>A c.*260T>A (n.*260T>A) c.1017T>A (p.Phe339Leu) c.3483T>A (p.Phe1161Leu) c.249T>A n.4191T>A c.3252T>A (p.Phe1084Leu) c.3246T>A (p.Phe1082Leu) | ClinVar |
16 | g.23603540del | CA2499223399 | PALB2 | c.3489del (p.Phe1163LeufsTer2) c.*968del (n.*968del) c.*118del (n.*118del) c.3327del (p.Phe1109LeufsTer2) c.2598del (p.Phe866LeufsTer2) n.4830del c.2436del (p.Phe812LeufsTer2) n.4003del n.2687del n.2178del c.*260del (n.*260del) c.1017del (p.Phe339LeufsTer2) c.3483del (p.Phe1161LeufsTer2) c.249del n.4191del c.3252del (p.Phe1084LeufsTer2) c.3246del (p.Phe1082LeufsTer2) | ClinVar dbSNP |
16 | g.23603538A>C | CA395137970 | PALB2 | c.3488T>G (p.Phe1163Cys) c.*967T>G (n.*967T>G) c.*117T>G (n.*117T>G) c.3326T>G (p.Phe1109Cys) c.2597T>G (p.Phe866Cys) n.4829T>G c.2435T>G (p.Phe812Cys) n.4002T>G n.2686T>G n.2177T>G c.*259T>G (n.*259T>G) c.1016T>G (p.Phe339Cys) c.3482T>G (p.Phe1161Cys) c.248T>G n.4190T>G c.3251T>G (p.Phe1084Cys) c.3245T>G (p.Phe1082Cys) | |
16 | g.23603538A>G | CA395137971 | PALB2 | c.3488T>C (p.Phe1163Ser) c.*967T>C (n.*967T>C) c.*117T>C (n.*117T>C) c.3326T>C (p.Phe1109Ser) c.2597T>C (p.Phe866Ser) n.4829T>C c.2435T>C (p.Phe812Ser) n.4002T>C n.2686T>C n.2177T>C c.*259T>C (n.*259T>C) c.1016T>C (p.Phe339Ser) c.3482T>C (p.Phe1161Ser) c.248T>C n.4190T>C c.3251T>C (p.Phe1084Ser) c.3245T>C (p.Phe1082Ser) | |
16 | g.23603538A>T | CA395137969 | PALB2 | c.3488T>A (p.Phe1163Tyr) c.*967T>A (n.*967T>A) c.*117T>A (n.*117T>A) c.3326T>A (p.Phe1109Tyr) c.2597T>A (p.Phe866Tyr) n.4829T>A c.2435T>A (p.Phe812Tyr) n.4002T>A n.2686T>A n.2177T>A c.*259T>A (n.*259T>A) c.1016T>A (p.Phe339Tyr) c.3482T>A (p.Phe1161Tyr) c.248T>A n.4190T>A c.3251T>A (p.Phe1084Tyr) c.3245T>A (p.Phe1082Tyr) | dbSNP |
16 | g.23603539A>C | CA395137977 | PALB2 | c.3487T>G (p.Phe1163Val) c.*966T>G (n.*966T>G) c.*116T>G (n.*116T>G) c.3325T>G (p.Phe1109Val) c.2596T>G (p.Phe866Val) n.4828T>G c.2434T>G (p.Phe812Val) n.4001T>G n.2685T>G n.2176T>G c.*258T>G (n.*258T>G) c.1015T>G (p.Phe339Val) c.3481T>G (p.Phe1161Val) c.247T>G n.4189T>G c.3250T>G (p.Phe1084Val) c.3244T>G (p.Phe1082Val) | ClinVar dbSNP |
16 | g.23603539A>G | CA395137973 | PALB2 | c.3487T>C (p.Phe1163Leu) c.*966T>C (n.*966T>C) c.*116T>C (n.*116T>C) c.3325T>C (p.Phe1109Leu) c.2596T>C (p.Phe866Leu) n.4828T>C c.2434T>C (p.Phe812Leu) n.4001T>C n.2685T>C n.2176T>C c.*258T>C (n.*258T>C) c.1015T>C (p.Phe339Leu) c.3481T>C (p.Phe1161Leu) c.247T>C n.4189T>C c.3250T>C (p.Phe1084Leu) c.3244T>C (p.Phe1082Leu) | |
16 | g.23603539A>T | CA395137975 | PALB2 | c.3487T>A (p.Phe1163Ile) c.*966T>A (n.*966T>A) c.*116T>A (n.*116T>A) c.3325T>A (p.Phe1109Ile) c.2596T>A (p.Phe866Ile) n.4828T>A c.2434T>A (p.Phe812Ile) n.4001T>A n.2685T>A n.2176T>A c.*258T>A (n.*258T>A) c.1015T>A (p.Phe339Ile) c.3481T>A (p.Phe1161Ile) c.247T>A n.4189T>A c.3250T>A (p.Phe1084Ile) c.3244T>A (p.Phe1082Ile) | |
16 | g.23603540A>C | CA494173577 | PALB2 | c.3486T>G (p.Ser1162=) c.*965T>G (n.*965T>G) c.*115T>G (n.*115T>G) c.3324T>G (p.Ser1108=) c.2595T>G (p.Ser865=) n.4827T>G c.2433T>G (p.Ser811=) n.4000T>G n.2684T>G n.2175T>G c.*257T>G (n.*257T>G) c.1014T>G (p.Ser338=) c.3480T>G (p.Ser1160=) c.246T>G n.4188T>G c.3249T>G (p.Ser1083=) c.3243T>G (p.Ser1081=) | |
16 | g.23603540A>G | CA494173578 | PALB2 | c.3486T>C (p.Ser1162=) c.*965T>C (n.*965T>C) c.*115T>C (n.*115T>C) c.3324T>C (p.Ser1108=) c.2595T>C (p.Ser865=) n.4827T>C c.2433T>C (p.Ser811=) n.4000T>C n.2684T>C n.2175T>C c.*257T>C (n.*257T>C) c.1014T>C (p.Ser338=) c.3480T>C (p.Ser1160=) c.246T>C n.4188T>C c.3249T>C (p.Ser1083=) c.3243T>C (p.Ser1081=) | |
16 | g.23603540A>T | CA494173579 | PALB2 | c.3486T>A (p.Ser1162=) c.*965T>A (n.*965T>A) c.*115T>A (n.*115T>A) c.3324T>A (p.Ser1108=) c.2595T>A (p.Ser865=) n.4827T>A c.2433T>A (p.Ser811=) n.4000T>A n.2684T>A n.2175T>A c.*257T>A (n.*257T>A) c.1014T>A (p.Ser338=) c.3480T>A (p.Ser1160=) c.246T>A n.4188T>A c.3249T>A (p.Ser1083=) c.3243T>A (p.Ser1081=) | dbSNP |
16 | g.23603541G>A | CA395137978 | PALB2 | c.3485C>T (p.Ser1162Phe) c.*964C>T (n.*964C>T) c.*114C>T (n.*114C>T) c.3323C>T (p.Ser1108Phe) c.2594C>T (p.Ser865Phe) n.4826C>T c.2432C>T (p.Ser811Phe) n.3999C>T n.2683C>T n.2174C>T c.*256C>T (n.*256C>T) c.1013C>T (p.Ser338Phe) c.3479C>T (p.Ser1160Phe) c.245C>T n.4187C>T c.3248C>T (p.Ser1083Phe) c.3242C>T (p.Ser1081Phe) | ClinVar dbSNP |
16 | g.23603541G>C | CA395137980 | PALB2 | c.3485C>G (p.Ser1162Cys) c.*964C>G (n.*964C>G) c.*114C>G (n.*114C>G) c.3323C>G (p.Ser1108Cys) c.2594C>G (p.Ser865Cys) n.4826C>G c.2432C>G (p.Ser811Cys) n.3999C>G n.2683C>G n.2174C>G c.*256C>G (n.*256C>G) c.1013C>G (p.Ser338Cys) c.3479C>G (p.Ser1160Cys) c.245C>G n.4187C>G c.3248C>G (p.Ser1083Cys) c.3242C>G (p.Ser1081Cys) | dbSNP gnomAD v4 |
16 | g.23603541G>T | CA395137982 | PALB2 | c.3485C>A (p.Ser1162Tyr) c.*964C>A (n.*964C>A) c.*114C>A (n.*114C>A) c.3323C>A (p.Ser1108Tyr) c.2594C>A (p.Ser865Tyr) n.4826C>A c.2432C>A (p.Ser811Tyr) n.3999C>A n.2683C>A n.2174C>A c.*256C>A (n.*256C>A) c.1013C>A (p.Ser338Tyr) c.3479C>A (p.Ser1160Tyr) c.245C>A n.4187C>A c.3248C>A (p.Ser1083Tyr) c.3242C>A (p.Ser1081Tyr) | |
16 | g.23603542A>C | CA395137983 | PALB2 | c.3484T>G (p.Ser1162Ala) c.*963T>G (n.*963T>G) c.*113T>G (n.*113T>G) c.3322T>G (p.Ser1108Ala) c.2593T>G (p.Ser865Ala) n.4825T>G c.2431T>G (p.Ser811Ala) n.3998T>G n.2682T>G n.2173T>G c.*255T>G (n.*255T>G) c.1012T>G (p.Ser338Ala) c.3478T>G (p.Ser1160Ala) c.244T>G n.4186T>G c.3247T>G (p.Ser1083Ala) c.3241T>G (p.Ser1081Ala) | ClinVar gnomAD v4 |
16 | g.23603542A>G | CA395137985 | PALB2 | c.3484T>C (p.Ser1162Pro) c.*963T>C (n.*963T>C) c.*113T>C (n.*113T>C) c.3322T>C (p.Ser1108Pro) c.2593T>C (p.Ser865Pro) n.4825T>C c.2431T>C (p.Ser811Pro) n.3998T>C n.2682T>C n.2173T>C c.*255T>C (n.*255T>C) c.1012T>C (p.Ser338Pro) c.3478T>C (p.Ser1160Pro) c.244T>C n.4186T>C c.3247T>C (p.Ser1083Pro) c.3241T>C (p.Ser1081Pro) | |
16 | g.23603542A>T | CA395137987 | PALB2 | c.3484T>A (p.Ser1162Thr) c.*963T>A (n.*963T>A) c.*113T>A (n.*113T>A) c.3322T>A (p.Ser1108Thr) c.2593T>A (p.Ser865Thr) n.4825T>A c.2431T>A (p.Ser811Thr) n.3998T>A n.2682T>A n.2173T>A c.*255T>A (n.*255T>A) c.1012T>A (p.Ser338Thr) c.3478T>A (p.Ser1160Thr) c.244T>A n.4186T>A c.3247T>A (p.Ser1083Thr) c.3241T>A (p.Ser1081Thr) | dbSNP |
16 | g.23603543C>A | CA395137989 | PALB2 | c.3483G>T (p.Trp1161Cys) c.*962G>T (n.*962G>T) c.*112G>T (n.*112G>T) c.3321G>T (p.Trp1107Cys) c.2592G>T (p.Trp864Cys) n.4824G>T c.2430G>T (p.Trp810Cys) n.3997G>T n.2681G>T n.2172G>T c.*254G>T (n.*254G>T) c.1011G>T (p.Trp337Cys) c.3477G>T (p.Trp1159Cys) c.243G>T n.4185G>T c.3246G>T (p.Trp1082Cys) c.3240G>T (p.Trp1080Cys) | dbSNP |
16 | g.23603543C= | CA2213424372 | PALB2 | c.3483G= (p.Trp1161=) c.*962G= (n.*962G=) c.*112G= (n.*112G=) c.3321G= (p.Trp1107=) c.2592G= (p.Trp864=) n.4824G= c.2430G= (p.Trp810=) n.3997G= n.2681G= n.2172G= c.*254G= (n.*254G=) c.1011G= (p.Trp337=) c.3477G= (p.Trp1159=) c.243G= n.4185G= c.3246G= (p.Trp1082=) c.3240G= (p.Trp1080=) | |
16 | g.23603543C>G | CA395137991 | PALB2 | c.3483G>C (p.Trp1161Cys) c.*962G>C (n.*962G>C) c.*112G>C (n.*112G>C) c.3321G>C (p.Trp1107Cys) c.2592G>C (p.Trp864Cys) n.4824G>C c.2430G>C (p.Trp810Cys) n.3997G>C n.2681G>C n.2172G>C c.*254G>C (n.*254G>C) c.1011G>C (p.Trp337Cys) c.3477G>C (p.Trp1159Cys) c.243G>C n.4185G>C c.3246G>C (p.Trp1082Cys) c.3240G>C (p.Trp1080Cys) | dbSNP |
16 | g.23603543C>T | CA395137993 | PALB2 | c.3483G>A (p.Trp1161Ter) c.*962G>A (n.*962G>A) c.*112G>A (n.*112G>A) c.3321G>A (p.Trp1107Ter) c.2592G>A (p.Trp864Ter) n.4824G>A c.2430G>A (p.Trp810Ter) n.3997G>A n.2681G>A n.2172G>A c.*254G>A (n.*254G>A) c.1011G>A (p.Trp337Ter) c.3477G>A (p.Trp1159Ter) c.243G>A n.4185G>A c.3246G>A (p.Trp1082Ter) c.3240G>A (p.Trp1080Ter) | ClinVar dbSNP |
16 | g.23603544C>A | CA279524947 | PALB2 | c.3482G>T (p.Trp1161Leu) c.*961G>T (n.*961G>T) c.*111G>T (n.*111G>T) c.3320G>T (p.Trp1107Leu) c.2591G>T (p.Trp864Leu) n.4823G>T c.2429G>T (p.Trp810Leu) n.3996G>T n.2680G>T n.2171G>T c.*253G>T (n.*253G>T) c.1010G>T (p.Trp337Leu) c.3476G>T (p.Trp1159Leu) c.242G>T n.4184G>T c.3245G>T (p.Trp1082Leu) c.3239G>T (p.Trp1080Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603544C= | CA2213424376 | PALB2 | c.3482G= (p.Trp1161=) c.*961G= (n.*961G=) c.*111G= (n.*111G=) c.3320G= (p.Trp1107=) c.2591G= (p.Trp864=) n.4823G= c.2429G= (p.Trp810=) n.3996G= n.2680G= n.2171G= c.*253G= (n.*253G=) c.1010G= (p.Trp337=) c.3476G= (p.Trp1159=) c.242G= n.4184G= c.3245G= (p.Trp1082=) c.3239G= (p.Trp1080=) | |
16 | g.23603544C>G | CA395137998 | PALB2 | c.3482G>C (p.Trp1161Ser) c.*961G>C (n.*961G>C) c.*111G>C (n.*111G>C) c.3320G>C (p.Trp1107Ser) c.2591G>C (p.Trp864Ser) n.4823G>C c.2429G>C (p.Trp810Ser) n.3996G>C n.2680G>C n.2171G>C c.*253G>C (n.*253G>C) c.1010G>C (p.Trp337Ser) c.3476G>C (p.Trp1159Ser) c.242G>C n.4184G>C c.3245G>C (p.Trp1082Ser) c.3239G>C (p.Trp1080Ser) | dbSNP |
16 | g.23603544C>T | CA166575 | PALB2 | c.3482G>A (p.Trp1161Ter) c.*961G>A (n.*961G>A) c.*111G>A (n.*111G>A) c.3320G>A (p.Trp1107Ter) c.2591G>A (p.Trp864Ter) n.4823G>A c.2429G>A (p.Trp810Ter) n.3996G>A n.2680G>A n.2171G>A c.*253G>A (n.*253G>A) c.1010G>A (p.Trp337Ter) c.3476G>A (p.Trp1159Ter) c.242G>A n.4184G>A c.3245G>A (p.Trp1082Ter) c.3239G>A (p.Trp1080Ter) | ClinVar dbSNP |
16 | g.23603544_23603547dup | CA10579912 | PALB2 | c.3479_3482dup (p.Trp1161Ter) c.*958_*961dup (n.*958_*961dup) c.*108_*111dup (n.*108_*111dup) c.3317_3320dup (p.Trp1107Ter) c.2588_2591dup (p.Trp864Ter) n.4820_4823dup c.2426_2429dup (p.Trp810Ter) n.3993_3996dup n.2677_2680dup n.2168_2171dup c.*250_*253dup (n.*250_*253dup) c.1007_1010dup (p.Trp337Ter) c.3473_3476dup (p.Trp1159Ter) c.239_242dup n.4181_4184dup c.3242_3245dup (p.Trp1082Ter) c.3236_3239dup (p.Trp1080Ter) | ClinVar dbSNP |
16 | g.23603545A= | CA2213424380 | PALB2 | c.3481T= (p.Trp1161=) c.*960T= (n.*960T=) c.*110T= (n.*110T=) c.3319T= (p.Trp1107=) c.2590T= (p.Trp864=) n.4822T= c.2428T= (p.Trp810=) n.3995T= n.2679T= n.2170T= c.*252T= (n.*252T=) c.1009T= (p.Trp337=) c.3475T= (p.Trp1159=) c.241T= n.4183T= c.3244T= (p.Trp1082=) c.3238T= (p.Trp1080=) | |
16 | g.23603545A>C | CA395138001 | PALB2 | c.3481T>G (p.Trp1161Gly) c.*960T>G (n.*960T>G) c.*110T>G (n.*110T>G) c.3319T>G (p.Trp1107Gly) c.2590T>G (p.Trp864Gly) n.4822T>G c.2428T>G (p.Trp810Gly) n.3995T>G n.2679T>G n.2170T>G c.*252T>G (n.*252T>G) c.1009T>G (p.Trp337Gly) c.3475T>G (p.Trp1159Gly) c.241T>G n.4183T>G c.3244T>G (p.Trp1082Gly) c.3238T>G (p.Trp1080Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603545A>G | CA10579913 | PALB2 | c.3481T>C (p.Trp1161Arg) c.*960T>C (n.*960T>C) c.*110T>C (n.*110T>C) c.3319T>C (p.Trp1107Arg) c.2590T>C (p.Trp864Arg) n.4822T>C c.2428T>C (p.Trp810Arg) n.3995T>C n.2679T>C n.2170T>C c.*252T>C (n.*252T>C) c.1009T>C (p.Trp337Arg) c.3475T>C (p.Trp1159Arg) c.241T>C n.4183T>C c.3244T>C (p.Trp1082Arg) c.3238T>C (p.Trp1080Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.23603545A>T | CA395138004 | PALB2 | c.3481T>A (p.Trp1161Arg) c.*960T>A (n.*960T>A) c.*110T>A (n.*110T>A) c.3319T>A (p.Trp1107Arg) c.2590T>A (p.Trp864Arg) n.4822T>A c.2428T>A (p.Trp810Arg) n.3995T>A n.2679T>A n.2170T>A c.*252T>A (n.*252T>A) c.1009T>A (p.Trp337Arg) c.3475T>A (p.Trp1159Arg) c.241T>A n.4183T>A c.3244T>A (p.Trp1082Arg) c.3238T>A (p.Trp1080Arg) | dbSNP |
16 | g.23603546del | CA2573152149 | PALB2 | c.3481del (p.Trp1161GlyfsTer4) c.*960del (n.*960del) c.*110del (n.*110del) c.3319del (p.Trp1107GlyfsTer4) c.2590del (p.Trp864GlyfsTer4) n.4822del c.2428del (p.Trp810GlyfsTer4) n.3995del n.2679del n.2170del c.*252del (n.*252del) c.1009del (p.Trp337GlyfsTer4) c.3475del (p.Trp1159GlyfsTer4) c.241del n.4183del c.3244del (p.Trp1082GlyfsTer4) c.3238del (p.Trp1080GlyfsTer4) | ClinVar dbSNP |
16 | g.23603546A= | CA2213424382 | PALB2 | c.3480T= (p.His1160=) c.*959T= (n.*959T=) c.*109T= (n.*109T=) c.3318T= (p.His1106=) c.2589T= (p.His863=) n.4821T= c.2427T= (p.His809=) n.3994T= n.2678T= n.2169T= c.*251T= (n.*251T=) c.1008T= (p.His336=) c.3474T= (p.His1158=) c.240T= n.4182T= c.3243T= (p.His1081=) c.3237T= (p.His1079=) | |
16 | g.23603546A>C | CA395138006 | PALB2 | c.3480T>G (p.His1160Gln) c.*959T>G (n.*959T>G) c.*109T>G (n.*109T>G) c.3318T>G (p.His1106Gln) c.2589T>G (p.His863Gln) n.4821T>G c.2427T>G (p.His809Gln) n.3994T>G n.2678T>G n.2169T>G c.*251T>G (n.*251T>G) c.1008T>G (p.His336Gln) c.3474T>G (p.His1158Gln) c.240T>G n.4182T>G c.3243T>G (p.His1081Gln) c.3237T>G (p.His1079Gln) | gnomAD v4 |
16 | g.23603546A>G | CA7963331 | PALB2 | c.3480T>C (p.His1160=) c.*959T>C (n.*959T>C) c.*109T>C (n.*109T>C) c.3318T>C (p.His1106=) c.2589T>C (p.His863=) n.4821T>C c.2427T>C (p.His809=) n.3994T>C n.2678T>C n.2169T>C c.*251T>C (n.*251T>C) c.1008T>C (p.His336=) c.3474T>C (p.His1158=) c.240T>C n.4182T>C c.3243T>C (p.His1081=) c.3237T>C (p.His1079=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603546A>T | CA299759 | PALB2 | c.3480T>A (p.His1160Gln) c.*959T>A (n.*959T>A) c.*109T>A (n.*109T>A) c.3318T>A (p.His1106Gln) c.2589T>A (p.His863Gln) n.4821T>A c.2427T>A (p.His809Gln) n.3994T>A n.2678T>A n.2169T>A c.*251T>A (n.*251T>A) c.1008T>A (p.His336Gln) c.3474T>A (p.His1158Gln) c.240T>A n.4182T>A c.3243T>A (p.His1081Gln) c.3237T>A (p.His1079Gln) | ClinVar dbSNP gnomAD v4 |
16 | g.23603547T>A | CA395138010 | PALB2 | c.3479A>T (p.His1160Leu) c.*958A>T (n.*958A>T) c.*108A>T (n.*108A>T) c.3317A>T (p.His1106Leu) c.2588A>T (p.His863Leu) n.4820A>T c.2426A>T (p.His809Leu) n.3993A>T n.2677A>T n.2168A>T c.*250A>T (n.*250A>T) c.1007A>T (p.His336Leu) c.3473A>T (p.His1158Leu) c.239A>T n.4181A>T c.3242A>T (p.His1081Leu) c.3236A>T (p.His1079Leu) | dbSNP |
16 | g.23603547T>C | CA338566 | PALB2 | c.3479A>G (p.His1160Arg) c.*958A>G (n.*958A>G) c.*108A>G (n.*108A>G) c.3317A>G (p.His1106Arg) c.2588A>G (p.His863Arg) n.4820A>G c.2426A>G (p.His809Arg) n.3993A>G n.2677A>G n.2168A>G c.*250A>G (n.*250A>G) c.1007A>G (p.His336Arg) c.3473A>G (p.His1158Arg) c.239A>G n.4181A>G c.3242A>G (p.His1081Arg) c.3236A>G (p.His1079Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603547T>G | CA395138012 | PALB2 | c.3479A>C (p.His1160Pro) c.*958A>C (n.*958A>C) c.*108A>C (n.*108A>C) c.3317A>C (p.His1106Pro) c.2588A>C (p.His863Pro) n.4820A>C c.2426A>C (p.His809Pro) n.3993A>C n.2677A>C n.2168A>C c.*250A>C (n.*250A>C) c.1007A>C (p.His336Pro) c.3473A>C (p.His1158Pro) c.239A>C n.4181A>C c.3242A>C (p.His1081Pro) c.3236A>C (p.His1079Pro) | |
16 | g.23603547T= | CA2213424385 | PALB2 | c.3479A= (p.His1160=) c.*958A= (n.*958A=) c.*108A= (n.*108A=) c.3317A= (p.His1106=) c.2588A= (p.His863=) n.4820A= c.2426A= (p.His809=) n.3993A= n.2677A= n.2168A= c.*250A= (n.*250A=) c.1007A= (p.His336=) c.3473A= (p.His1158=) c.239A= n.4181A= c.3242A= (p.His1081=) c.3236A= (p.His1079=) | |
16 | g.23603548G>A | CA395138015 | PALB2 | c.3478C>T (p.His1160Tyr) c.*957C>T (n.*957C>T) c.*107C>T (n.*107C>T) c.3316C>T (p.His1106Tyr) c.2587C>T (p.His863Tyr) n.4819C>T c.2425C>T (p.His809Tyr) n.3992C>T n.2676C>T n.2167C>T c.*249C>T (n.*249C>T) c.1006C>T (p.His336Tyr) c.3472C>T (p.His1158Tyr) c.238C>T n.4180C>T c.3241C>T (p.His1081Tyr) c.3235C>T (p.His1079Tyr) | ClinVar dbSNP gnomAD v4 |
16 | g.23603548G>C | CA395138016 | PALB2 | c.3478C>G (p.His1160Asp) c.*957C>G (n.*957C>G) c.*107C>G (n.*107C>G) c.3316C>G (p.His1106Asp) c.2587C>G (p.His863Asp) n.4819C>G c.2425C>G (p.His809Asp) n.3992C>G n.2676C>G n.2167C>G c.*249C>G (n.*249C>G) c.1006C>G (p.His336Asp) c.3472C>G (p.His1158Asp) c.238C>G n.4180C>G c.3241C>G (p.His1081Asp) c.3235C>G (p.His1079Asp) | dbSNP |
16 | g.23603548G>T | CA395138018 | PALB2 | c.3478C>A (p.His1160Asn) c.*957C>A (n.*957C>A) c.*107C>A (n.*107C>A) c.3316C>A (p.His1106Asn) c.2587C>A (p.His863Asn) n.4819C>A c.2425C>A (p.His809Asn) n.3992C>A n.2676C>A n.2167C>A c.*249C>A (n.*249C>A) c.1006C>A (p.His336Asn) c.3472C>A (p.His1158Asn) c.238C>A n.4180C>A c.3241C>A (p.His1081Asn) c.3235C>A (p.His1079Asn) | |
16 | g.23603549T>A | CA10579914 | PALB2 | c.3477A>T (p.Gln1159His) c.*956A>T (n.*956A>T) c.*106A>T (n.*106A>T) c.3315A>T (p.Gln1105His) c.2586A>T (p.Gln862His) n.4818A>T c.2424A>T (p.Gln808His) n.3991A>T n.2675A>T n.2166A>T c.*248A>T (n.*248A>T) c.1005A>T (p.Gln335His) c.3471A>T (p.Gln1157His) c.237A>T n.4179A>T c.3240A>T (p.Gln1080His) c.3234A>T (p.Gln1078His) | ClinVar dbSNP |
16 | g.23603549T>C | CA494173585 | PALB2 | c.3477A>G (p.Gln1159=) c.*956A>G (n.*956A>G) c.*106A>G (n.*106A>G) c.3315A>G (p.Gln1105=) c.2586A>G (p.Gln862=) n.4818A>G c.2424A>G (p.Gln808=) n.3991A>G n.2675A>G n.2166A>G c.*248A>G (n.*248A>G) c.1005A>G (p.Gln335=) c.3471A>G (p.Gln1157=) c.237A>G n.4179A>G c.3240A>G (p.Gln1080=) c.3234A>G (p.Gln1078=) | ClinVar dbSNP |
16 | g.23603549T>G | CA395138021 | PALB2 | c.3477A>C (p.Gln1159His) c.*956A>C (n.*956A>C) c.*106A>C (n.*106A>C) c.3315A>C (p.Gln1105His) c.2586A>C (p.Gln862His) n.4818A>C c.2424A>C (p.Gln808His) n.3991A>C n.2675A>C n.2166A>C c.*248A>C (n.*248A>C) c.1005A>C (p.Gln335His) c.3471A>C (p.Gln1157His) c.237A>C n.4179A>C c.3240A>C (p.Gln1080His) c.3234A>C (p.Gln1078His) | ClinVar dbSNP |
16 | g.23603549T= | CA2213424388 | PALB2 | c.3477A= (p.Gln1159=) c.*956A= (n.*956A=) c.*106A= (n.*106A=) c.3315A= (p.Gln1105=) c.2586A= (p.Gln862=) n.4818A= c.2424A= (p.Gln808=) n.3991A= n.2675A= n.2166A= c.*248A= (n.*248A=) c.1005A= (p.Gln335=) c.3471A= (p.Gln1157=) c.237A= n.4179A= c.3240A= (p.Gln1080=) c.3234A= (p.Gln1078=) | |
16 | g.23603550T>A | CA395138023 | PALB2 | c.3476A>T (p.Gln1159Leu) c.*955A>T (n.*955A>T) c.*105A>T (n.*105A>T) c.3314A>T (p.Gln1105Leu) c.2585A>T (p.Gln862Leu) n.4817A>T c.2423A>T (p.Gln808Leu) n.3990A>T n.2674A>T n.2165A>T c.*247A>T (n.*247A>T) c.1004A>T (p.Gln335Leu) c.3470A>T (p.Gln1157Leu) c.236A>T n.4178A>T c.3239A>T (p.Gln1080Leu) c.3233A>T (p.Gln1078Leu) | |
16 | g.23603550T>C | CA395138025 | PALB2 | c.3476A>G (p.Gln1159Arg) c.*955A>G (n.*955A>G) c.*105A>G (n.*105A>G) c.3314A>G (p.Gln1105Arg) c.2585A>G (p.Gln862Arg) n.4817A>G c.2423A>G (p.Gln808Arg) n.3990A>G n.2674A>G n.2165A>G c.*247A>G (n.*247A>G) c.1004A>G (p.Gln335Arg) c.3470A>G (p.Gln1157Arg) c.236A>G n.4178A>G c.3239A>G (p.Gln1080Arg) c.3233A>G (p.Gln1078Arg) | ClinVar |
16 | g.23603550T>G | CA395138026 | PALB2 | c.3476A>C (p.Gln1159Pro) c.*955A>C (n.*955A>C) c.*105A>C (n.*105A>C) c.3314A>C (p.Gln1105Pro) c.2585A>C (p.Gln862Pro) n.4817A>C c.2423A>C (p.Gln808Pro) n.3990A>C n.2674A>C n.2165A>C c.*247A>C (n.*247A>C) c.1004A>C (p.Gln335Pro) c.3470A>C (p.Gln1157Pro) c.236A>C n.4178A>C c.3239A>C (p.Gln1080Pro) c.3233A>C (p.Gln1078Pro) | ClinVar dbSNP |
16 | g.23603550T= | CA2213424391 | PALB2 | c.3476A= (p.Gln1159=) c.*955A= (n.*955A=) c.*105A= (n.*105A=) c.3314A= (p.Gln1105=) c.2585A= (p.Gln862=) n.4817A= c.2423A= (p.Gln808=) n.3990A= n.2674A= n.2165A= c.*247A= (n.*247A=) c.1004A= (p.Gln335=) c.3470A= (p.Gln1157=) c.236A= n.4178A= c.3239A= (p.Gln1080=) c.3233A= (p.Gln1078=) | |
16 | g.23603551G>A | CA395138028 | PALB2 | c.3475C>T (p.Gln1159Ter) c.*954C>T (n.*954C>T) c.*104C>T (n.*104C>T) c.3313C>T (p.Gln1105Ter) c.2584C>T (p.Gln862Ter) n.4816C>T c.2422C>T (p.Gln808Ter) n.3989C>T n.2673C>T n.2164C>T c.*246C>T (n.*246C>T) c.1003C>T (p.Gln335Ter) c.3469C>T (p.Gln1157Ter) c.235C>T n.4177C>T c.3238C>T (p.Gln1080Ter) c.3232C>T (p.Gln1078Ter) | ClinVar dbSNP |
16 | g.23603551G>C | CA395138029 | PALB2 | c.3475C>G (p.Gln1159Glu) c.*954C>G (n.*954C>G) c.*104C>G (n.*104C>G) c.3313C>G (p.Gln1105Glu) c.2584C>G (p.Gln862Glu) n.4816C>G c.2422C>G (p.Gln808Glu) n.3989C>G n.2673C>G n.2164C>G c.*246C>G (n.*246C>G) c.1003C>G (p.Gln335Glu) c.3469C>G (p.Gln1157Glu) c.235C>G n.4177C>G c.3238C>G (p.Gln1080Glu) c.3232C>G (p.Gln1078Glu) | ClinVar dbSNP |
16 | g.23603551G= | CA2213424393 | PALB2 | c.3475C= (p.Gln1159=) c.*954C= (n.*954C=) c.*104C= (n.*104C=) c.3313C= (p.Gln1105=) c.2584C= (p.Gln862=) n.4816C= c.2422C= (p.Gln808=) n.3989C= n.2673C= n.2164C= c.*246C= (n.*246C=) c.1003C= (p.Gln335=) c.3469C= (p.Gln1157=) c.235C= n.4177C= c.3238C= (p.Gln1080=) c.3232C= (p.Gln1078=) | |
16 | g.23603551G>T | CA395138031 | PALB2 | c.3475C>A (p.Gln1159Lys) c.*954C>A (n.*954C>A) c.*104C>A (n.*104C>A) c.3313C>A (p.Gln1105Lys) c.2584C>A (p.Gln862Lys) n.4816C>A c.2422C>A (p.Gln808Lys) n.3989C>A n.2673C>A n.2164C>A c.*246C>A (n.*246C>A) c.1003C>A (p.Gln335Lys) c.3469C>A (p.Gln1157Lys) c.235C>A n.4177C>A c.3238C>A (p.Gln1080Lys) c.3232C>A (p.Gln1078Lys) | dbSNP |
16 | g.23603552G>A | CA494173590 | PALB2 | c.3474C>T (p.Asp1158=) c.*953C>T (n.*953C>T) c.*103C>T (n.*103C>T) c.3312C>T (p.Asp1104=) c.2583C>T (p.Asp861=) n.4815C>T c.2421C>T (p.Asp807=) n.3988C>T n.2672C>T n.2163C>T c.*245C>T (n.*245C>T) c.1002C>T (p.Asp334=) c.3468C>T (p.Asp1156=) c.234C>T n.4176C>T c.3237C>T (p.Asp1079=) c.3231C>T (p.Asp1077=) | dbSNP |
16 | g.23603552G>C | CA395138034 | PALB2 | c.3474C>G (p.Asp1158Glu) c.*953C>G (n.*953C>G) c.*103C>G (n.*103C>G) c.3312C>G (p.Asp1104Glu) c.2583C>G (p.Asp861Glu) n.4815C>G c.2421C>G (p.Asp807Glu) n.3988C>G n.2672C>G n.2163C>G c.*245C>G (n.*245C>G) c.1002C>G (p.Asp334Glu) c.3468C>G (p.Asp1156Glu) c.234C>G n.4176C>G c.3237C>G (p.Asp1079Glu) c.3231C>G (p.Asp1077Glu) | dbSNP gnomAD v4 |
16 | g.23603552G>T | CA395138033 | PALB2 | c.3474C>A (p.Asp1158Glu) c.*953C>A (n.*953C>A) c.*103C>A (n.*103C>A) c.3312C>A (p.Asp1104Glu) c.2583C>A (p.Asp861Glu) n.4815C>A c.2421C>A (p.Asp807Glu) n.3988C>A n.2672C>A n.2163C>A c.*245C>A (n.*245C>A) c.1002C>A (p.Asp334Glu) c.3468C>A (p.Asp1156Glu) c.234C>A n.4176C>A c.3237C>A (p.Asp1079Glu) c.3231C>A (p.Asp1077Glu) | |
16 | g.23603552_23603553del | CA2838032595 | PALB2 | c.3473_3474del (p.Asp1158AlafsTer?) c.*952_*953del (n.*952_*953del) c.*102_*103del (n.*102_*103del) c.3311_3312del (p.Asp1104AlafsTer?) c.2582_2583del (p.Asp861AlafsTer?) n.4814_4815del c.2420_2421del (p.Asp807AlafsTer?) n.3987_3988del n.2671_2672del n.2162_2163del c.*244_*245del (n.*244_*245del) c.1001_1002del (p.Asp334AlafsTer?) c.3467_3468del (p.Asp1156AlafsTer?) c.233_234del n.4175_4176del c.3236_3237del (p.Asp1079AlafsTer?) c.3230_3231del (p.Asp1077AlafsTer?) | |
16 | g.23603553T>A | CA395138036 | PALB2 | c.3473A>T (p.Asp1158Val) c.*952A>T (n.*952A>T) c.*102A>T (n.*102A>T) c.3311A>T (p.Asp1104Val) c.2582A>T (p.Asp861Val) n.4814A>T c.2420A>T (p.Asp807Val) n.3987A>T n.2671A>T n.2162A>T c.*244A>T (n.*244A>T) c.1001A>T (p.Asp334Val) c.3467A>T (p.Asp1156Val) c.233A>T n.4175A>T c.3236A>T (p.Asp1079Val) c.3230A>T (p.Asp1077Val) | dbSNP |
16 | g.23603553T>C | CA395138038 | PALB2 | c.3473A>G (p.Asp1158Gly) c.*952A>G (n.*952A>G) c.*102A>G (n.*102A>G) c.3311A>G (p.Asp1104Gly) c.2582A>G (p.Asp861Gly) n.4814A>G c.2420A>G (p.Asp807Gly) n.3987A>G n.2671A>G n.2162A>G c.*244A>G (n.*244A>G) c.1001A>G (p.Asp334Gly) c.3467A>G (p.Asp1156Gly) c.233A>G n.4175A>G c.3236A>G (p.Asp1079Gly) c.3230A>G (p.Asp1077Gly) | dbSNP |
16 | g.23603553T>G | CA395138040 | PALB2 | c.3473A>C (p.Asp1158Ala) c.*952A>C (n.*952A>C) c.*102A>C (n.*102A>C) c.3311A>C (p.Asp1104Ala) c.2582A>C (p.Asp861Ala) n.4814A>C c.2420A>C (p.Asp807Ala) n.3987A>C n.2671A>C n.2162A>C c.*244A>C (n.*244A>C) c.1001A>C (p.Asp334Ala) c.3467A>C (p.Asp1156Ala) c.233A>C n.4175A>C c.3236A>C (p.Asp1079Ala) c.3230A>C (p.Asp1077Ala) | |
16 | g.23603554C>A | CA395138042 | PALB2 | c.3472G>T (p.Asp1158Tyr) c.*951G>T (n.*951G>T) c.*101G>T (n.*101G>T) c.3310G>T (p.Asp1104Tyr) c.2581G>T (p.Asp861Tyr) n.4813G>T c.2419G>T (p.Asp807Tyr) n.3986G>T n.2670G>T n.2161G>T c.*243G>T (n.*243G>T) c.1000G>T (p.Asp334Tyr) c.3466G>T (p.Asp1156Tyr) c.232G>T n.4174G>T c.3235G>T (p.Asp1079Tyr) c.3229G>T (p.Asp1077Tyr) | |
16 | g.23603554C>G | CA395138044 | PALB2 | c.3472G>C (p.Asp1158His) c.*951G>C (n.*951G>C) c.*101G>C (n.*101G>C) c.3310G>C (p.Asp1104His) c.2581G>C (p.Asp861His) n.4813G>C c.2419G>C (p.Asp807His) n.3986G>C n.2670G>C n.2161G>C c.*243G>C (n.*243G>C) c.1000G>C (p.Asp334His) c.3466G>C (p.Asp1156His) c.232G>C n.4174G>C c.3235G>C (p.Asp1079His) c.3229G>C (p.Asp1077His) | dbSNP COSMIC |
16 | g.23603554C>T | CA395138046 | PALB2 | c.3472G>A (p.Asp1158Asn) c.*951G>A (n.*951G>A) c.*101G>A (n.*101G>A) c.3310G>A (p.Asp1104Asn) c.2581G>A (p.Asp861Asn) n.4813G>A c.2419G>A (p.Asp807Asn) n.3986G>A n.2670G>A n.2161G>A c.*243G>A (n.*243G>A) c.1000G>A (p.Asp334Asn) c.3466G>A (p.Asp1156Asn) c.232G>A n.4174G>A c.3235G>A (p.Asp1079Asn) c.3229G>A (p.Asp1077Asn) | dbSNP |
16 | g.23603555A= | CA2213424396 | PALB2 | c.3471T= (p.Ser1157=) c.*950T= (n.*950T=) c.*100T= (n.*100T=) c.3309T= (p.Ser1103=) c.2580T= (p.Ser860=) n.4812T= c.2418T= (p.Ser806=) n.3985T= n.2669T= n.2160T= c.*242T= (n.*242T=) c.999T= (p.Ser333=) c.3465T= (p.Ser1155=) c.231T= n.4173T= c.3234T= (p.Ser1078=) c.3228T= (p.Ser1076=) | |
16 | g.23603555A>C | CA494173594 | PALB2 | c.3471T>G (p.Ser1157=) c.*950T>G (n.*950T>G) c.*100T>G (n.*100T>G) c.3309T>G (p.Ser1103=) c.2580T>G (p.Ser860=) n.4812T>G c.2418T>G (p.Ser806=) n.3985T>G n.2669T>G n.2160T>G c.*242T>G (n.*242T>G) c.999T>G (p.Ser333=) c.3465T>G (p.Ser1155=) c.231T>G n.4173T>G c.3234T>G (p.Ser1078=) c.3228T>G (p.Ser1076=) | |
16 | g.23603555A>G | CA494173596 | PALB2 | c.3471T>C (p.Ser1157=) c.*950T>C (n.*950T>C) c.*100T>C (n.*100T>C) c.3309T>C (p.Ser1103=) c.2580T>C (p.Ser860=) n.4812T>C c.2418T>C (p.Ser806=) n.3985T>C n.2669T>C n.2160T>C c.*242T>C (n.*242T>C) c.999T>C (p.Ser333=) c.3465T>C (p.Ser1155=) c.231T>C n.4173T>C c.3234T>C (p.Ser1078=) c.3228T>C (p.Ser1076=) | ClinVar dbSNP |
16 | g.23603555A>T | CA494173597 | PALB2 | c.3471T>A (p.Ser1157=) c.*950T>A (n.*950T>A) c.*100T>A (n.*100T>A) c.3309T>A (p.Ser1103=) c.2580T>A (p.Ser860=) n.4812T>A c.2418T>A (p.Ser806=) n.3985T>A n.2669T>A n.2160T>A c.*242T>A (n.*242T>A) c.999T>A (p.Ser333=) c.3465T>A (p.Ser1155=) c.231T>A n.4173T>A c.3234T>A (p.Ser1078=) c.3228T>A (p.Ser1076=) | dbSNP |
16 | g.23603558_23603559del | CA2580613442 | PALB2 | c.3470_3471del (p.Ser1157Ter) c.*949_*950del (n.*949_*950del) c.*99_*100del (n.*99_*100del) c.3308_3309del (p.Ser1103Ter) c.2579_2580del (p.Ser860Ter) n.4811_4812del c.2417_2418del (p.Ser806Ter) n.3984_3985del n.2668_2669del n.2159_2160del c.*241_*242del (n.*241_*242del) c.998_999del (p.Ser333Ter) c.3464_3465del (p.Ser1155Ter) c.230_231del n.4172_4173del c.3233_3234del (p.Ser1078Ter) c.3227_3228del (p.Ser1076Ter) | ClinVar dbSNP |
16 | g.23603556G>A | CA395138048 | PALB2 | c.3470C>T (p.Ser1157Phe) c.*949C>T (n.*949C>T) c.*99C>T (n.*99C>T) c.3308C>T (p.Ser1103Phe) c.2579C>T (p.Ser860Phe) n.4811C>T c.2417C>T (p.Ser806Phe) n.3984C>T n.2668C>T n.2159C>T c.*241C>T (n.*241C>T) c.998C>T (p.Ser333Phe) c.3464C>T (p.Ser1155Phe) c.230C>T n.4172C>T c.3233C>T (p.Ser1078Phe) c.3227C>T (p.Ser1076Phe) | ClinVar dbSNP |
16 | g.23603556G>C | CA7963332 | PALB2 | c.3470C>G (p.Ser1157Cys) c.*949C>G (n.*949C>G) c.*99C>G (n.*99C>G) c.3308C>G (p.Ser1103Cys) c.2579C>G (p.Ser860Cys) n.4811C>G c.2417C>G (p.Ser806Cys) n.3984C>G n.2668C>G n.2159C>G c.*241C>G (n.*241C>G) c.998C>G (p.Ser333Cys) c.3464C>G (p.Ser1155Cys) c.230C>G n.4172C>G c.3233C>G (p.Ser1078Cys) c.3227C>G (p.Ser1076Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603556G= | CA2213424398 | PALB2 | c.3470C= (p.Ser1157=) c.*949C= (n.*949C=) c.*99C= (n.*99C=) c.3308C= (p.Ser1103=) c.2579C= (p.Ser860=) n.4811C= c.2417C= (p.Ser806=) n.3984C= n.2668C= n.2159C= c.*241C= (n.*241C=) c.998C= (p.Ser333=) c.3464C= (p.Ser1155=) c.230C= n.4172C= c.3233C= (p.Ser1078=) c.3227C= (p.Ser1076=) | |
16 | g.23603556G>T | CA395138050 | PALB2 | c.3470C>A (p.Ser1157Tyr) c.*949C>A (n.*949C>A) c.*99C>A (n.*99C>A) c.3308C>A (p.Ser1103Tyr) c.2579C>A (p.Ser860Tyr) n.4811C>A c.2417C>A (p.Ser806Tyr) n.3984C>A n.2668C>A n.2159C>A c.*241C>A (n.*241C>A) c.998C>A (p.Ser333Tyr) c.3464C>A (p.Ser1155Tyr) c.230C>A n.4172C>A c.3233C>A (p.Ser1078Tyr) c.3227C>A (p.Ser1076Tyr) | |
16 | g.23603557A= | CA2213424400 | PALB2 | c.3469T= (p.Ser1157=) c.*948T= (n.*948T=) c.*98T= (n.*98T=) c.3307T= (p.Ser1103=) c.2578T= (p.Ser860=) n.4810T= c.2416T= (p.Ser806=) n.3983T= n.2667T= n.2158T= c.*240T= (n.*240T=) c.997T= (p.Ser333=) c.3463T= (p.Ser1155=) c.229T= n.4171T= c.3232T= (p.Ser1078=) c.3226T= (p.Ser1076=) | |
16 | g.23603557A>C | CA395138052 | PALB2 | c.3469T>G (p.Ser1157Ala) c.*948T>G (n.*948T>G) c.*98T>G (n.*98T>G) c.3307T>G (p.Ser1103Ala) c.2578T>G (p.Ser860Ala) n.4810T>G c.2416T>G (p.Ser806Ala) n.3983T>G n.2667T>G n.2158T>G c.*240T>G (n.*240T>G) c.997T>G (p.Ser333Ala) c.3463T>G (p.Ser1155Ala) c.229T>G n.4171T>G c.3232T>G (p.Ser1078Ala) c.3226T>G (p.Ser1076Ala) | |
16 | g.23603557A>G | CA395138054 | PALB2 | c.3469T>C (p.Ser1157Pro) c.*948T>C (n.*948T>C) c.*98T>C (n.*98T>C) c.3307T>C (p.Ser1103Pro) c.2578T>C (p.Ser860Pro) n.4810T>C c.2416T>C (p.Ser806Pro) n.3983T>C n.2667T>C n.2158T>C c.*240T>C (n.*240T>C) c.997T>C (p.Ser333Pro) c.3463T>C (p.Ser1155Pro) c.229T>C n.4171T>C c.3232T>C (p.Ser1078Pro) c.3226T>C (p.Ser1076Pro) | ClinVar dbSNP |
16 | g.23603557A>T | CA395138056 | PALB2 | c.3469T>A (p.Ser1157Thr) c.*948T>A (n.*948T>A) c.*98T>A (n.*98T>A) c.3307T>A (p.Ser1103Thr) c.2578T>A (p.Ser860Thr) n.4810T>A c.2416T>A (p.Ser806Thr) n.3983T>A n.2667T>A n.2158T>A c.*240T>A (n.*240T>A) c.997T>A (p.Ser333Thr) c.3463T>A (p.Ser1155Thr) c.229T>A n.4171T>A c.3232T>A (p.Ser1078Thr) c.3226T>A (p.Ser1076Thr) | ClinVar dbSNP |
16 | g.23603558G>A | CA494173600 | PALB2 | c.3468C>T (p.Val1156=) c.*947C>T (n.*947C>T) c.*97C>T (n.*97C>T) c.3306C>T (p.Val1102=) c.2577C>T (p.Val859=) n.4809C>T c.2415C>T (p.Val805=) n.3982C>T n.2666C>T n.2157C>T c.*239C>T (n.*239C>T) c.996C>T (p.Val332=) c.3462C>T (p.Val1154=) c.228C>T n.4170C>T c.3231C>T (p.Val1077=) c.3225C>T (p.Val1075=) | |
16 | g.23603558G>C | CA494173601 | PALB2 | c.3468C>G (p.Val1156=) c.*947C>G (n.*947C>G) c.*97C>G (n.*97C>G) c.3306C>G (p.Val1102=) c.2577C>G (p.Val859=) n.4809C>G c.2415C>G (p.Val805=) n.3982C>G n.2666C>G n.2157C>G c.*239C>G (n.*239C>G) c.996C>G (p.Val332=) c.3462C>G (p.Val1154=) c.228C>G n.4170C>G c.3231C>G (p.Val1077=) c.3225C>G (p.Val1075=) | dbSNP |
16 | g.23603558G= | CA2213424402 | PALB2 | c.3468C= (p.Val1156=) c.*947C= (n.*947C=) c.*97C= (n.*97C=) c.3306C= (p.Val1102=) c.2577C= (p.Val859=) n.4809C= c.2415C= (p.Val805=) n.3982C= n.2666C= n.2157C= c.*239C= (n.*239C=) c.996C= (p.Val332=) c.3462C= (p.Val1154=) c.228C= n.4170C= c.3231C= (p.Val1077=) c.3225C= (p.Val1075=) | |
16 | g.23603558G>T | CA494173602 | PALB2 | c.3468C>A (p.Val1156=) c.*947C>A (n.*947C>A) c.*97C>A (n.*97C>A) c.3306C>A (p.Val1102=) c.2577C>A (p.Val859=) n.4809C>A c.2415C>A (p.Val805=) n.3982C>A n.2666C>A n.2157C>A c.*239C>A (n.*239C>A) c.996C>A (p.Val332=) c.3462C>A (p.Val1154=) c.228C>A n.4170C>A c.3231C>A (p.Val1077=) c.3225C>A (p.Val1075=) | |
16 | g.23603559A= | CA2213424404 | PALB2 | c.3467T= (p.Val1156=) c.*946T= (n.*946T=) c.*96T= (n.*96T=) c.3305T= (p.Val1102=) c.2576T= (p.Val859=) n.4808T= c.2414T= (p.Val805=) n.3981T= n.2665T= n.2156T= c.*238T= (n.*238T=) c.995T= (p.Val332=) c.3461T= (p.Val1154=) c.227T= n.4169T= c.3230T= (p.Val1077=) c.3224T= (p.Val1075=) | |
16 | g.23603559A>C | CA395138058 | PALB2 | c.3467T>G (p.Val1156Gly) c.*946T>G (n.*946T>G) c.*96T>G (n.*96T>G) c.3305T>G (p.Val1102Gly) c.2576T>G (p.Val859Gly) n.4808T>G c.2414T>G (p.Val805Gly) n.3981T>G n.2665T>G n.2156T>G c.*238T>G (n.*238T>G) c.995T>G (p.Val332Gly) c.3461T>G (p.Val1154Gly) c.227T>G n.4169T>G c.3230T>G (p.Val1077Gly) c.3224T>G (p.Val1075Gly) | |
16 | g.23603559A>G | CA395138060 | PALB2 | c.3467T>C (p.Val1156Ala) c.*946T>C (n.*946T>C) c.*96T>C (n.*96T>C) c.3305T>C (p.Val1102Ala) c.2576T>C (p.Val859Ala) n.4808T>C c.2414T>C (p.Val805Ala) n.3981T>C n.2665T>C n.2156T>C c.*238T>C (n.*238T>C) c.995T>C (p.Val332Ala) c.3461T>C (p.Val1154Ala) c.227T>C n.4169T>C c.3230T>C (p.Val1077Ala) c.3224T>C (p.Val1075Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.23603559A>T | CA395138061 | PALB2 | c.3467T>A (p.Val1156Asp) c.*946T>A (n.*946T>A) c.*96T>A (n.*96T>A) c.3305T>A (p.Val1102Asp) c.2576T>A (p.Val859Asp) n.4808T>A c.2414T>A (p.Val805Asp) n.3981T>A n.2665T>A n.2156T>A c.*238T>A (n.*238T>A) c.995T>A (p.Val332Asp) c.3461T>A (p.Val1154Asp) c.227T>A n.4169T>A c.3230T>A (p.Val1077Asp) c.3224T>A (p.Val1075Asp) | dbSNP |
16 | g.23603560C>A | CA395138064 | PALB2 | c.3466G>T (p.Val1156Phe) c.*945G>T (n.*945G>T) c.*95G>T (n.*95G>T) c.3304G>T (p.Val1102Phe) c.2575G>T (p.Val859Phe) n.4807G>T c.2413G>T (p.Val805Phe) n.3980G>T n.2664G>T n.2155G>T c.*237G>T (n.*237G>T) c.994G>T (p.Val332Phe) c.3460G>T (p.Val1154Phe) c.226G>T n.4168G>T c.3229G>T (p.Val1077Phe) c.3223G>T (p.Val1075Phe) | |
16 | g.23603560C= | CA2213424405 | PALB2 | c.3466G= (p.Val1156=) c.*945G= (n.*945G=) c.*95G= (n.*95G=) c.3304G= (p.Val1102=) c.2575G= (p.Val859=) n.4807G= c.2413G= (p.Val805=) n.3980G= n.2664G= n.2155G= c.*237G= (n.*237G=) c.994G= (p.Val332=) c.3460G= (p.Val1154=) c.226G= n.4168G= c.3229G= (p.Val1077=) c.3223G= (p.Val1075=) | |
16 | g.23603560C>G | CA395138065 | PALB2 | c.3466G>C (p.Val1156Leu) c.*945G>C (n.*945G>C) c.*95G>C (n.*95G>C) c.3304G>C (p.Val1102Leu) c.2575G>C (p.Val859Leu) n.4807G>C c.2413G>C (p.Val805Leu) n.3980G>C n.2664G>C n.2155G>C c.*237G>C (n.*237G>C) c.994G>C (p.Val332Leu) c.3460G>C (p.Val1154Leu) c.226G>C n.4168G>C c.3229G>C (p.Val1077Leu) c.3223G>C (p.Val1075Leu) | dbSNP |
16 | g.23603560C>T | CA395138067 | PALB2 | c.3466G>A (p.Val1156Ile) c.*945G>A (n.*945G>A) c.*95G>A (n.*95G>A) c.3304G>A (p.Val1102Ile) c.2575G>A (p.Val859Ile) n.4807G>A c.2413G>A (p.Val805Ile) n.3980G>A n.2664G>A n.2155G>A c.*237G>A (n.*237G>A) c.994G>A (p.Val332Ile) c.3460G>A (p.Val1154Ile) c.226G>A n.4168G>A c.3229G>A (p.Val1077Ile) c.3223G>A (p.Val1075Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.23603561A>C | CA494173603 | PALB2 | c.3465T>G (p.Pro1155=) c.*944T>G (n.*944T>G) c.*94T>G (n.*94T>G) c.3303T>G (p.Pro1101=) c.2574T>G (p.Pro858=) n.4806T>G c.2412T>G (p.Pro804=) n.3979T>G n.2663T>G n.2154T>G c.*236T>G (n.*236T>G) c.993T>G (p.Pro331=) c.3459T>G (p.Pro1153=) c.225T>G n.4167T>G c.3228T>G (p.Pro1076=) c.3222T>G (p.Pro1074=) | |
16 | g.23603561A>G | CA494173604 | PALB2 | c.3465T>C (p.Pro1155=) c.*944T>C (n.*944T>C) c.*94T>C (n.*94T>C) c.3303T>C (p.Pro1101=) c.2574T>C (p.Pro858=) n.4806T>C c.2412T>C (p.Pro804=) n.3979T>C n.2663T>C n.2154T>C c.*236T>C (n.*236T>C) c.993T>C (p.Pro331=) c.3459T>C (p.Pro1153=) c.225T>C n.4167T>C c.3228T>C (p.Pro1076=) c.3222T>C (p.Pro1074=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603561A>T | CA494173605 | PALB2 | c.3465T>A (p.Pro1155=) c.*944T>A (n.*944T>A) c.*94T>A (n.*94T>A) c.3303T>A (p.Pro1101=) c.2574T>A (p.Pro858=) n.4806T>A c.2412T>A (p.Pro804=) n.3979T>A n.2663T>A n.2154T>A c.*236T>A (n.*236T>A) c.993T>A (p.Pro331=) c.3459T>A (p.Pro1153=) c.225T>A n.4167T>A c.3228T>A (p.Pro1076=) c.3222T>A (p.Pro1074=) | dbSNP gnomAD v4 |
16 | g.23603564_23603570del | CA2580091248 | PALB2 | c.3459_3465del (p.Pro1154SerfsTer9) c.*938_*944del (n.*938_*944del) c.*88_*94del (n.*88_*94del) c.3297_3303del (p.Pro1100SerfsTer9) c.2568_2574del (p.Pro857SerfsTer9) n.4800_4806del c.2406_2412del (p.Pro803SerfsTer9) n.3973_3979del n.2657_2663del n.2148_2154del c.*230_*236del (n.*230_*236del) c.987_993del (p.Pro330SerfsTer9) c.3453_3459del (p.Pro1152SerfsTer9) c.219_225del n.4161_4167del c.3222_3228del (p.Pro1075SerfsTer9) c.3216_3222del (p.Pro1073SerfsTer9) | ClinVar |
16 | g.23603562G>A | CA395138069 | PALB2 | c.3464C>T (p.Pro1155Leu) c.*943C>T (n.*943C>T) c.*93C>T (n.*93C>T) c.3302C>T (p.Pro1101Leu) c.2573C>T (p.Pro858Leu) n.4805C>T c.2411C>T (p.Pro804Leu) n.3978C>T n.2662C>T n.2153C>T c.*235C>T (n.*235C>T) c.992C>T (p.Pro331Leu) c.3458C>T (p.Pro1153Leu) c.224C>T n.4166C>T c.3227C>T (p.Pro1076Leu) c.3221C>T (p.Pro1074Leu) | ClinVar dbSNP |
16 | g.23603562G>C | CA395138071 | PALB2 | c.3464C>G (p.Pro1155Arg) c.*943C>G (n.*943C>G) c.*93C>G (n.*93C>G) c.3302C>G (p.Pro1101Arg) c.2573C>G (p.Pro858Arg) n.4805C>G c.2411C>G (p.Pro804Arg) n.3978C>G n.2662C>G n.2153C>G c.*235C>G (n.*235C>G) c.992C>G (p.Pro331Arg) c.3458C>G (p.Pro1153Arg) c.224C>G n.4166C>G c.3227C>G (p.Pro1076Arg) c.3221C>G (p.Pro1074Arg) | ClinVar dbSNP |
16 | g.23603562G= | CA2213424408 | PALB2 | c.3464C= (p.Pro1155=) c.*943C= (n.*943C=) c.*93C= (n.*93C=) c.3302C= (p.Pro1101=) c.2573C= (p.Pro858=) n.4805C= c.2411C= (p.Pro804=) n.3978C= n.2662C= n.2153C= c.*235C= (n.*235C=) c.992C= (p.Pro331=) c.3458C= (p.Pro1153=) c.224C= n.4166C= c.3227C= (p.Pro1076=) c.3221C= (p.Pro1074=) | |
16 | g.23603562G>T | CA395138072 | PALB2 | c.3464C>A (p.Pro1155His) c.*943C>A (n.*943C>A) c.*93C>A (n.*93C>A) c.3302C>A (p.Pro1101His) c.2573C>A (p.Pro858His) n.4805C>A c.2411C>A (p.Pro804His) n.3978C>A n.2662C>A n.2153C>A c.*235C>A (n.*235C>A) c.992C>A (p.Pro331His) c.3458C>A (p.Pro1153His) c.224C>A n.4166C>A c.3227C>A (p.Pro1076His) c.3221C>A (p.Pro1074His) | ClinVar dbSNP |
16 | g.23603563G>A | CA395138077 | PALB2 | c.3463C>T (p.Pro1155Ser) c.*942C>T (n.*942C>T) c.*92C>T (n.*92C>T) c.3301C>T (p.Pro1101Ser) c.2572C>T (p.Pro858Ser) n.4804C>T c.2410C>T (p.Pro804Ser) n.3977C>T n.2661C>T n.2152C>T c.*234C>T (n.*234C>T) c.991C>T (p.Pro331Ser) c.3457C>T (p.Pro1153Ser) c.223C>T n.4165C>T c.3226C>T (p.Pro1076Ser) c.3220C>T (p.Pro1074Ser) | ClinVar dbSNP |
16 | g.23603563G>C | CA395138078 | PALB2 | c.3463C>G (p.Pro1155Ala) c.*942C>G (n.*942C>G) c.*92C>G (n.*92C>G) c.3301C>G (p.Pro1101Ala) c.2572C>G (p.Pro858Ala) n.4804C>G c.2410C>G (p.Pro804Ala) n.3977C>G n.2661C>G n.2152C>G c.*234C>G (n.*234C>G) c.991C>G (p.Pro331Ala) c.3457C>G (p.Pro1153Ala) c.223C>G n.4165C>G c.3226C>G (p.Pro1076Ala) c.3220C>G (p.Pro1074Ala) | ClinVar dbSNP |
16 | g.23603563G= | CA2213424410 | PALB2 | c.3463C= (p.Pro1155=) c.*942C= (n.*942C=) c.*92C= (n.*92C=) c.3301C= (p.Pro1101=) c.2572C= (p.Pro858=) n.4804C= c.2410C= (p.Pro804=) n.3977C= n.2661C= n.2152C= c.*234C= (n.*234C=) c.991C= (p.Pro331=) c.3457C= (p.Pro1153=) c.223C= n.4165C= c.3226C= (p.Pro1076=) c.3220C= (p.Pro1074=) | |
16 | g.23603563G>T | CA395138075 | PALB2 | c.3463C>A (p.Pro1155Thr) c.*942C>A (n.*942C>A) c.*92C>A (n.*92C>A) c.3301C>A (p.Pro1101Thr) c.2572C>A (p.Pro858Thr) n.4804C>A c.2410C>A (p.Pro804Thr) n.3977C>A n.2661C>A n.2152C>A c.*234C>A (n.*234C>A) c.991C>A (p.Pro331Thr) c.3457C>A (p.Pro1153Thr) c.223C>A n.4165C>A c.3226C>A (p.Pro1076Thr) c.3220C>A (p.Pro1074Thr) | |
16 | g.23603564T>A | CA494173608 | PALB2 | c.3462A>T (p.Pro1154=) c.*941A>T (n.*941A>T) c.*91A>T (n.*91A>T) c.3300A>T (p.Pro1100=) c.2571A>T (p.Pro857=) n.4803A>T c.2409A>T (p.Pro803=) n.3976A>T n.2660A>T n.2151A>T c.*233A>T (n.*233A>T) c.990A>T (p.Pro330=) c.3456A>T (p.Pro1152=) c.222A>T n.4164A>T c.3225A>T (p.Pro1075=) c.3219A>T (p.Pro1073=) | COSMIC |
16 | g.23603564T>C | CA494173610 | PALB2 | c.3462A>G (p.Pro1154=) c.*941A>G (n.*941A>G) c.*91A>G (n.*91A>G) c.3300A>G (p.Pro1100=) c.2571A>G (p.Pro857=) n.4803A>G c.2409A>G (p.Pro803=) n.3976A>G n.2660A>G n.2151A>G c.*233A>G (n.*233A>G) c.990A>G (p.Pro330=) c.3456A>G (p.Pro1152=) c.222A>G n.4164A>G c.3225A>G (p.Pro1075=) c.3219A>G (p.Pro1073=) | ClinVar dbSNP |
16 | g.23603564T>G | CA494173612 | PALB2 | c.3462A>C (p.Pro1154=) c.*941A>C (n.*941A>C) c.*91A>C (n.*91A>C) c.3300A>C (p.Pro1100=) c.2571A>C (p.Pro857=) n.4803A>C c.2409A>C (p.Pro803=) n.3976A>C n.2660A>C n.2151A>C c.*233A>C (n.*233A>C) c.990A>C (p.Pro330=) c.3456A>C (p.Pro1152=) c.222A>C n.4164A>C c.3225A>C (p.Pro1075=) c.3219A>C (p.Pro1073=) | |
16 | g.23603564dup | CA288484 | PALB2 | c.3462dup (p.Pro1155ThrfsTer4) c.*941dup (n.*941dup) c.*91dup (n.*91dup) c.3300dup (p.Pro1101ThrfsTer4) c.2571dup (p.Pro858ThrfsTer4) n.4803dup c.2409dup (p.Pro804ThrfsTer4) n.3976dup n.2660dup n.2151dup c.*233dup (n.*233dup) c.990dup (p.Pro331ThrfsTer4) c.3456dup (p.Pro1153ThrfsTer4) c.222dup n.4164dup c.3225dup (p.Pro1076ThrfsTer4) c.3219dup (p.Pro1074ThrfsTer4) | ClinVar dbSNP gnomAD v4 |
16 | g.23603564_23603565delinsTG | CA2213424413 | PALB2 | c.3461_3462delinsCA (p.Pro1154=) c.*940_*941delinsCA (n.*940_*941delinsCA) c.*90_*91delinsCA (n.*90_*91delinsCA) c.3299_3300delinsCA (p.Pro1100=) c.2570_2571delinsCA (p.Pro857=) n.4802_4803delinsCA c.2408_2409delinsCA (p.Pro803=) n.3975_3976delinsCA n.2659_2660delinsCA n.2150_2151delinsCA c.*232_*233delinsCA (n.*232_*233delinsCA) c.989_990delinsCA (p.Pro330=) c.3455_3456delinsCA (p.Pro1152=) c.221_222delinsCA n.4163_4164delinsCA c.3224_3225delinsCA (p.Pro1075=) c.3218_3219delinsCA (p.Pro1073=) | |
16 | g.23603565G>A | CA395138082 | PALB2 | c.3461C>T (p.Pro1154Leu) c.*940C>T (n.*940C>T) c.*90C>T (n.*90C>T) c.3299C>T (p.Pro1100Leu) c.2570C>T (p.Pro857Leu) n.4802C>T c.2408C>T (p.Pro803Leu) n.3975C>T n.2659C>T n.2150C>T c.*232C>T (n.*232C>T) c.989C>T (p.Pro330Leu) c.3455C>T (p.Pro1152Leu) c.221C>T n.4163C>T c.3224C>T (p.Pro1075Leu) c.3218C>T (p.Pro1073Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.23603565G>C | CA395138083 | PALB2 | c.3461C>G (p.Pro1154Arg) c.*940C>G (n.*940C>G) c.*90C>G (n.*90C>G) c.3299C>G (p.Pro1100Arg) c.2570C>G (p.Pro857Arg) n.4802C>G c.2408C>G (p.Pro803Arg) n.3975C>G n.2659C>G n.2150C>G c.*232C>G (n.*232C>G) c.989C>G (p.Pro330Arg) c.3455C>G (p.Pro1152Arg) c.221C>G n.4163C>G c.3224C>G (p.Pro1075Arg) c.3218C>G (p.Pro1073Arg) | |
16 | g.23603565G= | CA2213424416 | PALB2 | c.3461C= (p.Pro1154=) c.*940C= (n.*940C=) c.*90C= (n.*90C=) c.3299C= (p.Pro1100=) c.2570C= (p.Pro857=) n.4802C= c.2408C= (p.Pro803=) n.3975C= n.2659C= n.2150C= c.*232C= (n.*232C=) c.989C= (p.Pro330=) c.3455C= (p.Pro1152=) c.221C= n.4163C= c.3224C= (p.Pro1075=) c.3218C= (p.Pro1073=) | |
16 | g.23603565G>T | CA395138086 | PALB2 | c.3461C>A (p.Pro1154Gln) c.*940C>A (n.*940C>A) c.*90C>A (n.*90C>A) c.3299C>A (p.Pro1100Gln) c.2570C>A (p.Pro857Gln) n.4802C>A c.2408C>A (p.Pro803Gln) n.3975C>A n.2659C>A n.2150C>A c.*232C>A (n.*232C>A) c.989C>A (p.Pro330Gln) c.3455C>A (p.Pro1152Gln) c.221C>A n.4163C>A c.3224C>A (p.Pro1075Gln) c.3218C>A (p.Pro1073Gln) | |
16 | g.23603567del | CA915949155 | PALB2 | c.3461del (p.Pro1154HisfsTer11) c.*940del (n.*940del) c.*90del (n.*90del) c.3299del (p.Pro1100HisfsTer11) c.2570del (p.Pro857HisfsTer11) n.4802del c.2408del (p.Pro803HisfsTer11) n.3975del n.2659del n.2150del c.*232del (n.*232del) c.989del (p.Pro330HisfsTer11) c.3455del (p.Pro1152HisfsTer11) c.221del n.4163del c.3224del (p.Pro1075HisfsTer11) c.3218del (p.Pro1073HisfsTer11) | ClinVar dbSNP |
16 | g.23603565_23603568delinsGGGA | CA2213424418 | PALB2 | c.3458_3461delinsTCCC (p.Leu1153=) c.*937_*940delinsTCCC (n.*937_*940delinsTCCC) c.*87_*90delinsTCCC (n.*87_*90delinsTCCC) c.3296_3299delinsTCCC (p.Leu1099=) c.2567_2570delinsTCCC (p.Leu856=) n.4799_4802delinsTCCC c.2405_2408delinsTCCC (p.Leu802=) n.3972_3975delinsTCCC n.2656_2659delinsTCCC n.2147_2150delinsTCCC c.*229_*232delinsTCCC (n.*229_*232delinsTCCC) c.986_989delinsTCCC (p.Leu329=) c.3452_3455delinsTCCC (p.Leu1151=) c.218_221delinsTCCC n.4160_4163delinsTCCC c.3221_3224delinsTCCC (p.Leu1074=) c.3215_3218delinsTCCC (p.Leu1072=) | |
16 | g.23603568_23603574del | CA2825002424 | PALB2 | c.3455_3461del (p.Leu1152HisfsTer11) c.*934_*940del (n.*934_*940del) c.*84_*90del (n.*84_*90del) c.3293_3299del (p.Leu1098HisfsTer11) c.2564_2570del (p.Leu855HisfsTer11) n.4796_4802del c.2402_2408del (p.Leu801HisfsTer11) n.3969_3975del n.2653_2659del n.2144_2150del c.*226_*232del (n.*226_*232del) c.983_989del (p.Leu328HisfsTer11) c.3449_3455del (p.Leu1150HisfsTer11) c.215_221del n.4157_4163del c.3218_3224del (p.Leu1073HisfsTer11) c.3212_3218del (p.Leu1071HisfsTer11) | ClinVar |
16 | g.23603566G>A | CA395138088 | PALB2 | c.3460C>T (p.Pro1154Ser) c.*939C>T (n.*939C>T) c.*89C>T (n.*89C>T) c.3298C>T (p.Pro1100Ser) c.2569C>T (p.Pro857Ser) n.4801C>T c.2407C>T (p.Pro803Ser) n.3974C>T n.2658C>T n.2149C>T c.*231C>T (n.*231C>T) c.988C>T (p.Pro330Ser) c.3454C>T (p.Pro1152Ser) c.220C>T n.4162C>T c.3223C>T (p.Pro1075Ser) c.3217C>T (p.Pro1073Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.23603566G>C | CA395138090 | PALB2 | c.3460C>G (p.Pro1154Ala) c.*939C>G (n.*939C>G) c.*89C>G (n.*89C>G) c.3298C>G (p.Pro1100Ala) c.2569C>G (p.Pro857Ala) n.4801C>G c.2407C>G (p.Pro803Ala) n.3974C>G n.2658C>G n.2149C>G c.*231C>G (n.*231C>G) c.988C>G (p.Pro330Ala) c.3454C>G (p.Pro1152Ala) c.220C>G n.4162C>G c.3223C>G (p.Pro1075Ala) c.3217C>G (p.Pro1073Ala) | dbSNP |
16 | g.23603566G>T | CA395138091 | PALB2 | c.3460C>A (p.Pro1154Thr) c.*939C>A (n.*939C>A) c.*89C>A (n.*89C>A) c.3298C>A (p.Pro1100Thr) c.2569C>A (p.Pro857Thr) n.4801C>A c.2407C>A (p.Pro803Thr) n.3974C>A n.2658C>A n.2149C>A c.*231C>A (n.*231C>A) c.988C>A (p.Pro330Thr) c.3454C>A (p.Pro1152Thr) c.220C>A n.4162C>A c.3223C>A (p.Pro1075Thr) c.3217C>A (p.Pro1073Thr) | ClinVar dbSNP |
16 | g.23603566_23603568delinsAG | CA2695197574 | PALB2 | c.3458_3460delinsCT (p.Leu1153ProfsTer12) c.*937_*939delinsCT (n.*937_*939delinsCT) c.*87_*89delinsCT (n.*87_*89delinsCT) c.3296_3298delinsCT (p.Leu1099ProfsTer12) c.2567_2569delinsCT (p.Leu856ProfsTer12) n.4799_4801delinsCT c.2405_2407delinsCT (p.Leu802ProfsTer12) n.3972_3974delinsCT n.2656_2658delinsCT n.2147_2149delinsCT c.*229_*231delinsCT (n.*229_*231delinsCT) c.986_988delinsCT (p.Leu329ProfsTer12) c.3452_3454delinsCT (p.Leu1151ProfsTer12) c.218_220delinsCT n.4160_4162delinsCT c.3221_3223delinsCT (p.Leu1074ProfsTer12) c.3215_3217delinsCT (p.Leu1072ProfsTer12) | ClinVar |
16 | g.23603571_23603573del | CA915949156 | PALB2 | c.3458_3460del (p.Leu1153del) c.*937_*939del (n.*937_*939del) c.*87_*89del (n.*87_*89del) c.3296_3298del (p.Leu1099del) c.2567_2569del (p.Leu856del) n.4799_4801del c.2405_2407del (p.Leu802del) n.3972_3974del n.2656_2658del n.2147_2149del c.*229_*231del (n.*229_*231del) c.986_988del (p.Leu329del) c.3452_3454del (p.Leu1151del) c.218_220del n.4160_4162del c.3221_3223del (p.Leu1074del) c.3215_3217del (p.Leu1072del) | ClinVar dbSNP |
16 | g.23603567G>A | CA494173614 | PALB2 | c.3459C>T (p.Leu1153=) c.*938C>T (n.*938C>T) c.*88C>T (n.*88C>T) c.3297C>T (p.Leu1099=) c.2568C>T (p.Leu856=) n.4800C>T c.2406C>T (p.Leu802=) n.3973C>T n.2657C>T n.2148C>T c.*230C>T (n.*230C>T) c.987C>T (p.Leu329=) c.3453C>T (p.Leu1151=) c.219C>T n.4161C>T c.3222C>T (p.Leu1074=) c.3216C>T (p.Leu1072=) | ClinVar dbSNP |
16 | g.23603567G>C | CA7963333 | PALB2 | c.3459C>G (p.Leu1153=) c.*938C>G (n.*938C>G) c.*88C>G (n.*88C>G) c.3297C>G (p.Leu1099=) c.2568C>G (p.Leu856=) n.4800C>G c.2406C>G (p.Leu802=) n.3973C>G n.2657C>G n.2148C>G c.*230C>G (n.*230C>G) c.987C>G (p.Leu329=) c.3453C>G (p.Leu1151=) c.219C>G n.4161C>G c.3222C>G (p.Leu1074=) c.3216C>G (p.Leu1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603567G= | CA2213424421 | PALB2 | c.3459C= (p.Leu1153=) c.*938C= (n.*938C=) c.*88C= (n.*88C=) c.3297C= (p.Leu1099=) c.2568C= (p.Leu856=) n.4800C= c.2406C= (p.Leu802=) n.3973C= n.2657C= n.2148C= c.*230C= (n.*230C=) c.987C= (p.Leu329=) c.3453C= (p.Leu1151=) c.219C= n.4161C= c.3222C= (p.Leu1074=) c.3216C= (p.Leu1072=) | |
16 | g.23603567G>T | CA494173615 | PALB2 | c.3459C>A (p.Leu1153=) c.*938C>A (n.*938C>A) c.*88C>A (n.*88C>A) c.3297C>A (p.Leu1099=) c.2568C>A (p.Leu856=) n.4800C>A c.2406C>A (p.Leu802=) n.3973C>A n.2657C>A n.2148C>A c.*230C>A (n.*230C>A) c.987C>A (p.Leu329=) c.3453C>A (p.Leu1151=) c.219C>A n.4161C>A c.3222C>A (p.Leu1074=) c.3216C>A (p.Leu1072=) | |
16 | g.23603568A= | CA2213424424 | PALB2 | c.3458T= (p.Leu1153=) c.*937T= (n.*937T=) c.*87T= (n.*87T=) c.3296T= (p.Leu1099=) c.2567T= (p.Leu856=) n.4799T= c.2405T= (p.Leu802=) n.3972T= n.2656T= n.2147T= c.*229T= (n.*229T=) c.986T= (p.Leu329=) c.3452T= (p.Leu1151=) c.218T= n.4160T= c.3221T= (p.Leu1074=) c.3215T= (p.Leu1072=) | |
16 | g.23603568A>C | CA395138094 | PALB2 | c.3458T>G (p.Leu1153Arg) c.*937T>G (n.*937T>G) c.*87T>G (n.*87T>G) c.3296T>G (p.Leu1099Arg) c.2567T>G (p.Leu856Arg) n.4799T>G c.2405T>G (p.Leu802Arg) n.3972T>G n.2656T>G n.2147T>G c.*229T>G (n.*229T>G) c.986T>G (p.Leu329Arg) c.3452T>G (p.Leu1151Arg) c.218T>G n.4160T>G c.3221T>G (p.Leu1074Arg) c.3215T>G (p.Leu1072Arg) | |
16 | g.23603568A>G | CA7963334 | PALB2 | c.3458T>C (p.Leu1153Pro) c.*937T>C (n.*937T>C) c.*87T>C (n.*87T>C) c.3296T>C (p.Leu1099Pro) c.2567T>C (p.Leu856Pro) n.4799T>C c.2405T>C (p.Leu802Pro) n.3972T>C n.2656T>C n.2147T>C c.*229T>C (n.*229T>C) c.986T>C (p.Leu329Pro) c.3452T>C (p.Leu1151Pro) c.218T>C n.4160T>C c.3221T>C (p.Leu1074Pro) c.3215T>C (p.Leu1072Pro) | dbSNP ExAC gnomAD v2 |
16 | g.23603568A>T | CA299756 | PALB2 | c.3458T>A (p.Leu1153His) c.*937T>A (n.*937T>A) c.*87T>A (n.*87T>A) c.3296T>A (p.Leu1099His) c.2567T>A (p.Leu856His) n.4799T>A c.2405T>A (p.Leu802His) n.3972T>A n.2656T>A n.2147T>A c.*229T>A (n.*229T>A) c.986T>A (p.Leu329His) c.3452T>A (p.Leu1151His) c.218T>A n.4160T>A c.3221T>A (p.Leu1074His) c.3215T>A (p.Leu1072His) | ClinVar dbSNP |
16 | g.23603569G>A | CA196709 | PALB2 | c.3457C>T (p.Leu1153Phe) c.*936C>T (n.*936C>T) c.*86C>T (n.*86C>T) c.3295C>T (p.Leu1099Phe) c.2566C>T (p.Leu856Phe) n.4798C>T c.2404C>T (p.Leu802Phe) n.3971C>T n.2655C>T n.2146C>T c.*228C>T (n.*228C>T) c.985C>T (p.Leu329Phe) c.3451C>T (p.Leu1151Phe) c.217C>T n.4159C>T c.3220C>T (p.Leu1074Phe) c.3214C>T (p.Leu1072Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23603569G>C | CA395138098 | PALB2 | c.3457C>G (p.Leu1153Val) c.*936C>G (n.*936C>G) c.*86C>G (n.*86C>G) c.3295C>G (p.Leu1099Val) c.2566C>G (p.Leu856Val) n.4798C>G c.2404C>G (p.Leu802Val) n.3971C>G n.2655C>G n.2146C>G c.*228C>G (n.*228C>G) c.985C>G (p.Leu329Val) c.3451C>G (p.Leu1151Val) c.217C>G n.4159C>G c.3220C>G (p.Leu1074Val) c.3214C>G (p.Leu1072Val) | dbSNP gnomAD v4 |
16 | g.23603569G= | CA2213424426 | PALB2 | c.3457C= (p.Leu1153=) c.*936C= (n.*936C=) c.*86C= (n.*86C=) c.3295C= (p.Leu1099=) c.2566C= (p.Leu856=) n.4798C= c.2404C= (p.Leu802=) n.3971C= n.2655C= n.2146C= c.*228C= (n.*228C=) c.985C= (p.Leu329=) c.3451C= (p.Leu1151=) c.217C= n.4159C= c.3220C= (p.Leu1074=) c.3214C= (p.Leu1072=) | |
16 | g.23603569G>T | CA395138099 | PALB2 | c.3457C>A (p.Leu1153Ile) c.*936C>A (n.*936C>A) c.*86C>A (n.*86C>A) c.3295C>A (p.Leu1099Ile) c.2566C>A (p.Leu856Ile) n.4798C>A c.2404C>A (p.Leu802Ile) n.3971C>A n.2655C>A n.2146C>A c.*228C>A (n.*228C>A) c.985C>A (p.Leu329Ile) c.3451C>A (p.Leu1151Ile) c.217C>A n.4159C>A c.3220C>A (p.Leu1074Ile) c.3214C>A (p.Leu1072Ile) | |
16 | g.23603570G>A | CA494173617 | PALB2 | c.3456C>T (p.Leu1152=) c.*935C>T (n.*935C>T) c.*85C>T (n.*85C>T) c.3294C>T (p.Leu1098=) c.2565C>T (p.Leu855=) n.4797C>T c.2403C>T (p.Leu801=) n.3970C>T n.2654C>T n.2145C>T c.*227C>T (n.*227C>T) c.984C>T (p.Leu328=) c.3450C>T (p.Leu1150=) c.216C>T n.4158C>T c.3219C>T (p.Leu1073=) c.3213C>T (p.Leu1071=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603570G>C | CA494173618 | PALB2 | c.3456C>G (p.Leu1152=) c.*935C>G (n.*935C>G) c.*85C>G (n.*85C>G) c.3294C>G (p.Leu1098=) c.2565C>G (p.Leu855=) n.4797C>G c.2403C>G (p.Leu801=) n.3970C>G n.2654C>G n.2145C>G c.*227C>G (n.*227C>G) c.984C>G (p.Leu328=) c.3450C>G (p.Leu1150=) c.216C>G n.4158C>G c.3219C>G (p.Leu1073=) c.3213C>G (p.Leu1071=) | dbSNP |
16 | g.23603570G>T | CA494173619 | PALB2 | c.3456C>A (p.Leu1152=) c.*935C>A (n.*935C>A) c.*85C>A (n.*85C>A) c.3294C>A (p.Leu1098=) c.2565C>A (p.Leu855=) n.4797C>A c.2403C>A (p.Leu801=) n.3970C>A n.2654C>A n.2145C>A c.*227C>A (n.*227C>A) c.984C>A (p.Leu328=) c.3450C>A (p.Leu1150=) c.216C>A n.4158C>A c.3219C>A (p.Leu1073=) c.3213C>A (p.Leu1071=) | dbSNP |
16 | g.23603570_23603572delinsAA | CA2580091249 | PALB2 | c.3454_3456delinsTT (p.Leu1152PhefsTer13) c.*933_*935delinsTT (n.*933_*935delinsTT) c.*83_*85delinsTT (n.*83_*85delinsTT) c.3292_3294delinsTT (p.Leu1098PhefsTer13) c.2563_2565delinsTT (p.Leu855PhefsTer13) n.4795_4797delinsTT c.2401_2403delinsTT (p.Leu801PhefsTer13) n.3968_3970delinsTT n.2652_2654delinsTT n.2143_2145delinsTT c.*225_*227delinsTT (n.*225_*227delinsTT) c.982_984delinsTT (p.Leu328PhefsTer13) c.3448_3450delinsTT (p.Leu1150PhefsTer13) c.214_216delinsTT n.4156_4158delinsTT c.3217_3219delinsTT (p.Leu1073PhefsTer13) c.3211_3213delinsTT (p.Leu1071PhefsTer13) | ClinVar |
16 | g.23603571A= | CA2213424428 | PALB2 | c.3455T= (p.Leu1152=) c.*934T= (n.*934T=) c.*84T= (n.*84T=) c.3293T= (p.Leu1098=) c.2564T= (p.Leu855=) n.4796T= c.2402T= (p.Leu801=) n.3969T= n.2653T= n.2144T= c.*226T= (n.*226T=) c.983T= (p.Leu328=) c.3449T= (p.Leu1150=) c.215T= n.4157T= c.3218T= (p.Leu1073=) c.3212T= (p.Leu1071=) | |
16 | g.23603571A>C | CA166841 | PALB2 | c.3455T>G (p.Leu1152Arg) c.*934T>G (n.*934T>G) c.*84T>G (n.*84T>G) c.3293T>G (p.Leu1098Arg) c.2564T>G (p.Leu855Arg) n.4796T>G c.2402T>G (p.Leu801Arg) n.3969T>G n.2653T>G n.2144T>G c.*226T>G (n.*226T>G) c.983T>G (p.Leu328Arg) c.3449T>G (p.Leu1150Arg) c.215T>G n.4157T>G c.3218T>G (p.Leu1073Arg) c.3212T>G (p.Leu1071Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603571A>G | CA395138103 | PALB2 | c.3455T>C (p.Leu1152Pro) c.*934T>C (n.*934T>C) c.*84T>C (n.*84T>C) c.3293T>C (p.Leu1098Pro) c.2564T>C (p.Leu855Pro) n.4796T>C c.2402T>C (p.Leu801Pro) n.3969T>C n.2653T>C n.2144T>C c.*226T>C (n.*226T>C) c.983T>C (p.Leu328Pro) c.3449T>C (p.Leu1150Pro) c.215T>C n.4157T>C c.3218T>C (p.Leu1073Pro) c.3212T>C (p.Leu1071Pro) | ClinVar dbSNP |
16 | g.23603571A>T | CA395138101 | PALB2 | c.3455T>A (p.Leu1152His) c.*934T>A (n.*934T>A) c.*84T>A (n.*84T>A) c.3293T>A (p.Leu1098His) c.2564T>A (p.Leu855His) n.4796T>A c.2402T>A (p.Leu801His) n.3969T>A n.2653T>A n.2144T>A c.*226T>A (n.*226T>A) c.983T>A (p.Leu328His) c.3449T>A (p.Leu1150His) c.215T>A n.4157T>A c.3218T>A (p.Leu1073His) c.3212T>A (p.Leu1071His) | dbSNP |
16 | g.23603572G>A | CA337664 | PALB2 | c.3454C>T (p.Leu1152Phe) c.*933C>T (n.*933C>T) c.*83C>T (n.*83C>T) c.3292C>T (p.Leu1098Phe) c.2563C>T (p.Leu855Phe) n.4795C>T c.2401C>T (p.Leu801Phe) n.3968C>T n.2652C>T n.2143C>T c.*225C>T (n.*225C>T) c.982C>T (p.Leu328Phe) c.3448C>T (p.Leu1150Phe) c.214C>T n.4156C>T c.3217C>T (p.Leu1073Phe) c.3211C>T (p.Leu1071Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.23603572G>C | CA395138106 | PALB2 | c.3454C>G (p.Leu1152Val) c.*933C>G (n.*933C>G) c.*83C>G (n.*83C>G) c.3292C>G (p.Leu1098Val) c.2563C>G (p.Leu855Val) n.4795C>G c.2401C>G (p.Leu801Val) n.3968C>G n.2652C>G n.2143C>G c.*225C>G (n.*225C>G) c.982C>G (p.Leu328Val) c.3448C>G (p.Leu1150Val) c.214C>G n.4156C>G c.3217C>G (p.Leu1073Val) c.3211C>G (p.Leu1071Val) | dbSNP |
16 | g.23603572G= | CA2213424430 | PALB2 | c.3454C= (p.Leu1152=) c.*933C= (n.*933C=) c.*83C= (n.*83C=) c.3292C= (p.Leu1098=) c.2563C= (p.Leu855=) n.4795C= c.2401C= (p.Leu801=) n.3968C= n.2652C= n.2143C= c.*225C= (n.*225C=) c.982C= (p.Leu328=) c.3448C= (p.Leu1150=) c.214C= n.4156C= c.3217C= (p.Leu1073=) c.3211C= (p.Leu1071=) | |
16 | g.23603572G>T | CA395138107 | PALB2 | c.3454C>A (p.Leu1152Ile) c.*933C>A (n.*933C>A) c.*83C>A (n.*83C>A) c.3292C>A (p.Leu1098Ile) c.2563C>A (p.Leu855Ile) n.4795C>A c.2401C>A (p.Leu801Ile) n.3968C>A n.2652C>A n.2143C>A c.*225C>A (n.*225C>A) c.982C>A (p.Leu328Ile) c.3448C>A (p.Leu1150Ile) c.214C>A n.4156C>A c.3217C>A (p.Leu1073Ile) c.3211C>A (p.Leu1071Ile) | dbSNP |
16 | g.23603573G>A | CA494173623 | PALB2 | c.3453C>T (p.Ala1151=) c.*932C>T (n.*932C>T) c.*82C>T (n.*82C>T) c.3291C>T (p.Ala1097=) c.2562C>T (p.Ala854=) n.4794C>T c.2400C>T (p.Ala800=) n.3967C>T n.2651C>T n.2142C>T c.*224C>T (n.*224C>T) c.981C>T (p.Ala327=) c.3447C>T (p.Ala1149=) c.213C>T n.4155C>T c.3216C>T (p.Ala1072=) c.3210C>T (p.Ala1070=) | ClinVar dbSNP |
16 | g.23603573G>C | CA494173625 | PALB2 | c.3453C>G (p.Ala1151=) c.*932C>G (n.*932C>G) c.*82C>G (n.*82C>G) c.3291C>G (p.Ala1097=) c.2562C>G (p.Ala854=) n.4794C>G c.2400C>G (p.Ala800=) n.3967C>G n.2651C>G n.2142C>G c.*224C>G (n.*224C>G) c.981C>G (p.Ala327=) c.3447C>G (p.Ala1149=) c.213C>G n.4155C>G c.3216C>G (p.Ala1072=) c.3210C>G (p.Ala1070=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603573G= | CA2213424433 | PALB2 | c.3453C= (p.Ala1151=) c.*932C= (n.*932C=) c.*82C= (n.*82C=) c.3291C= (p.Ala1097=) c.2562C= (p.Ala854=) n.4794C= c.2400C= (p.Ala800=) n.3967C= n.2651C= n.2142C= c.*224C= (n.*224C=) c.981C= (p.Ala327=) c.3447C= (p.Ala1149=) c.213C= n.4155C= c.3216C= (p.Ala1072=) c.3210C= (p.Ala1070=) | |
16 | g.23603573G>T | CA494173624 | PALB2 | c.3453C>A (p.Ala1151=) c.*932C>A (n.*932C>A) c.*82C>A (n.*82C>A) c.3291C>A (p.Ala1097=) c.2562C>A (p.Ala854=) n.4794C>A c.2400C>A (p.Ala800=) n.3967C>A n.2651C>A n.2142C>A c.*224C>A (n.*224C>A) c.981C>A (p.Ala327=) c.3447C>A (p.Ala1149=) c.213C>A n.4155C>A c.3216C>A (p.Ala1072=) c.3210C>A (p.Ala1070=) | |
16 | g.23603574G>A | CA395138109 | PALB2 | c.3452C>T (p.Ala1151Val) c.*931C>T (n.*931C>T) c.*81C>T (n.*81C>T) c.3290C>T (p.Ala1097Val) c.2561C>T (p.Ala854Val) n.4793C>T c.2399C>T (p.Ala800Val) n.3966C>T n.2650C>T n.2141C>T c.*223C>T (n.*223C>T) c.980C>T (p.Ala327Val) c.3446C>T (p.Ala1149Val) c.212C>T n.4154C>T c.3215C>T (p.Ala1072Val) c.3209C>T (p.Ala1070Val) | dbSNP |
16 | g.23603574G>C | CA395138111 | PALB2 | c.3452C>G (p.Ala1151Gly) c.*931C>G (n.*931C>G) c.*81C>G (n.*81C>G) c.3290C>G (p.Ala1097Gly) c.2561C>G (p.Ala854Gly) n.4793C>G c.2399C>G (p.Ala800Gly) n.3966C>G n.2650C>G n.2141C>G c.*223C>G (n.*223C>G) c.980C>G (p.Ala327Gly) c.3446C>G (p.Ala1149Gly) c.212C>G n.4154C>G c.3215C>G (p.Ala1072Gly) c.3209C>G (p.Ala1070Gly) | dbSNP |
16 | g.23603574G>T | CA395138113 | PALB2 | c.3452C>A (p.Ala1151Asp) c.*931C>A (n.*931C>A) c.*81C>A (n.*81C>A) c.3290C>A (p.Ala1097Asp) c.2561C>A (p.Ala854Asp) n.4793C>A c.2399C>A (p.Ala800Asp) n.3966C>A n.2650C>A n.2141C>A c.*223C>A (n.*223C>A) c.980C>A (p.Ala327Asp) c.3446C>A (p.Ala1149Asp) c.212C>A n.4154C>A c.3215C>A (p.Ala1072Asp) c.3209C>A (p.Ala1070Asp) | dbSNP |
16 | g.23603575_23603576insTGTACTGC | CA2573054197 | PALB2 | c.3452_3453insAGTACAGC (p.Leu1152ValfsTer16) c.*931_*932insAGTACAGC (n.*931_*932insAGTACAGC) c.*81_*82insAGTACAGC (n.*81_*82insAGTACAGC) c.3290_3291insAGTACAGC (p.Leu1098ValfsTer16) c.2561_2562insAGTACAGC (p.Leu855ValfsTer16) n.4793_4794insAGTACAGC c.2399_2400insAGTACAGC (p.Leu801ValfsTer16) n.3966_3967insAGTACAGC n.2650_2651insAGTACAGC n.2141_2142insAGTACAGC c.*223_*224insAGTACAGC (n.*223_*224insAGTACAGC) c.980_981insAGTACAGC (p.Leu328ValfsTer16) c.3446_3447insAGTACAGC (p.Leu1150ValfsTer16) c.212_213insAGTACAGC n.4154_4155insAGTACAGC c.3215_3216insAGTACAGC (p.Leu1073ValfsTer16) c.3209_3210insAGTACAGC (p.Leu1071ValfsTer16) | ClinVar dbSNP |
16 | g.23603575C>A | CA395138115 | PALB2 | c.3451G>T (p.Ala1151Ser) c.*930G>T (n.*930G>T) c.*80G>T (n.*80G>T) c.3289G>T (p.Ala1097Ser) c.2560G>T (p.Ala854Ser) n.4792G>T c.2398G>T (p.Ala800Ser) n.3965G>T n.2649G>T n.2140G>T c.*222G>T (n.*222G>T) c.979G>T (p.Ala327Ser) c.3445G>T (p.Ala1149Ser) c.211G>T n.4153G>T c.3214G>T (p.Ala1072Ser) c.3208G>T (p.Ala1070Ser) | ClinVar |
16 | g.23603575C>G | CA395138117 | PALB2 | c.3451G>C (p.Ala1151Pro) c.*930G>C (n.*930G>C) c.*80G>C (n.*80G>C) c.3289G>C (p.Ala1097Pro) c.2560G>C (p.Ala854Pro) n.4792G>C c.2398G>C (p.Ala800Pro) n.3965G>C n.2649G>C n.2140G>C c.*222G>C (n.*222G>C) c.979G>C (p.Ala327Pro) c.3445G>C (p.Ala1149Pro) c.211G>C n.4153G>C c.3214G>C (p.Ala1072Pro) c.3208G>C (p.Ala1070Pro) | dbSNP |
16 | g.23603575C>T | CA395138119 | PALB2 | c.3451G>A (p.Ala1151Thr) c.*930G>A (n.*930G>A) c.*80G>A (n.*80G>A) c.3289G>A (p.Ala1097Thr) c.2560G>A (p.Ala854Thr) n.4792G>A c.2398G>A (p.Ala800Thr) n.3965G>A n.2649G>A n.2140G>A c.*222G>A (n.*222G>A) c.979G>A (p.Ala327Thr) c.3445G>A (p.Ala1149Thr) c.211G>A n.4153G>A c.3214G>A (p.Ala1072Thr) c.3208G>A (p.Ala1070Thr) | ClinVar dbSNP |
16 | g.23603576A= | CA2213424435 | PALB2 | c.3450T= (p.Thr1150=) c.*929T= (n.*929T=) c.*79T= (n.*79T=) c.3288T= (p.Thr1096=) c.2559T= (p.Thr853=) n.4791T= c.2397T= (p.Thr799=) n.3964T= n.2648T= n.2139T= c.*221T= (n.*221T=) c.978T= (p.Thr326=) c.3444T= (p.Thr1148=) c.210T= n.4152T= c.3213T= (p.Thr1071=) c.3207T= (p.Thr1069=) | |
16 | g.23603576A>C | CA494173627 | PALB2 | c.3450T>G (p.Thr1150=) c.*929T>G (n.*929T>G) c.*79T>G (n.*79T>G) c.3288T>G (p.Thr1096=) c.2559T>G (p.Thr853=) n.4791T>G c.2397T>G (p.Thr799=) n.3964T>G n.2648T>G n.2139T>G c.*221T>G (n.*221T>G) c.978T>G (p.Thr326=) c.3444T>G (p.Thr1148=) c.210T>G n.4152T>G c.3213T>G (p.Thr1071=) c.3207T>G (p.Thr1069=) | ClinVar |
16 | g.23603576A>G | CA7963335 | PALB2 | c.3450T>C (p.Thr1150=) c.*929T>C (n.*929T>C) c.*79T>C (n.*79T>C) c.3288T>C (p.Thr1096=) c.2559T>C (p.Thr853=) n.4791T>C c.2397T>C (p.Thr799=) n.3964T>C n.2648T>C n.2139T>C c.*221T>C (n.*221T>C) c.978T>C (p.Thr326=) c.3444T>C (p.Thr1148=) c.210T>C n.4152T>C c.3213T>C (p.Thr1071=) c.3207T>C (p.Thr1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603576A>T | CA7963336 | PALB2 | c.3450T>A (p.Thr1150=) c.*929T>A (n.*929T>A) c.*79T>A (n.*79T>A) c.3288T>A (p.Thr1096=) c.2559T>A (p.Thr853=) n.4791T>A c.2397T>A (p.Thr799=) n.3964T>A n.2648T>A n.2139T>A c.*221T>A (n.*221T>A) c.978T>A (p.Thr326=) c.3444T>A (p.Thr1148=) c.210T>A n.4152T>A c.3213T>A (p.Thr1071=) c.3207T>A (p.Thr1069=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603577G>A | CA395138123 | PALB2 | c.3449C>T (p.Thr1150Ile) c.*928C>T (n.*928C>T) c.*78C>T (n.*78C>T) c.3287C>T (p.Thr1096Ile) c.2558C>T (p.Thr853Ile) n.4790C>T c.2396C>T (p.Thr799Ile) n.3963C>T n.2647C>T n.2138C>T c.*220C>T (n.*220C>T) c.977C>T (p.Thr326Ile) c.3443C>T (p.Thr1148Ile) c.209C>T n.4151C>T c.3212C>T (p.Thr1071Ile) c.3206C>T (p.Thr1069Ile) | ClinVar dbSNP |
16 | g.23603577G>C | CA395138125 | PALB2 | c.3449C>G (p.Thr1150Ser) c.*928C>G (n.*928C>G) c.*78C>G (n.*78C>G) c.3287C>G (p.Thr1096Ser) c.2558C>G (p.Thr853Ser) n.4790C>G c.2396C>G (p.Thr799Ser) n.3963C>G n.2647C>G n.2138C>G c.*220C>G (n.*220C>G) c.977C>G (p.Thr326Ser) c.3443C>G (p.Thr1148Ser) c.209C>G n.4151C>G c.3212C>G (p.Thr1071Ser) c.3206C>G (p.Thr1069Ser) | dbSNP |
16 | g.23603577G>T | CA395138126 | PALB2 | c.3449C>A (p.Thr1150Asn) c.*928C>A (n.*928C>A) c.*78C>A (n.*78C>A) c.3287C>A (p.Thr1096Asn) c.2558C>A (p.Thr853Asn) n.4790C>A c.2396C>A (p.Thr799Asn) n.3963C>A n.2647C>A n.2138C>A c.*220C>A (n.*220C>A) c.977C>A (p.Thr326Asn) c.3443C>A (p.Thr1148Asn) c.209C>A n.4151C>A c.3212C>A (p.Thr1071Asn) c.3206C>A (p.Thr1069Asn) | |
16 | g.23603578T>A | CA395138131 | PALB2 | c.3448A>T (p.Thr1150Ser) c.*927A>T (n.*927A>T) c.*77A>T (n.*77A>T) c.3286A>T (p.Thr1096Ser) c.2557A>T (p.Thr853Ser) n.4789A>T c.2395A>T (p.Thr799Ser) n.3962A>T n.2646A>T n.2137A>T c.*219A>T (n.*219A>T) c.976A>T (p.Thr326Ser) c.3442A>T (p.Thr1148Ser) c.208A>T n.4150A>T c.3211A>T (p.Thr1071Ser) c.3205A>T (p.Thr1069Ser) | dbSNP |
16 | g.23603578T>C | CA395138132 | PALB2 | c.3448A>G (p.Thr1150Ala) c.*927A>G (n.*927A>G) c.*77A>G (n.*77A>G) c.3286A>G (p.Thr1096Ala) c.2557A>G (p.Thr853Ala) n.4789A>G c.2395A>G (p.Thr799Ala) n.3962A>G n.2646A>G n.2137A>G c.*219A>G (n.*219A>G) c.976A>G (p.Thr326Ala) c.3442A>G (p.Thr1148Ala) c.208A>G n.4150A>G c.3211A>G (p.Thr1071Ala) c.3205A>G (p.Thr1069Ala) | ClinVar dbSNP |
16 | g.23603578T>G | CA395138129 | PALB2 | c.3448A>C (p.Thr1150Pro) c.*927A>C (n.*927A>C) c.*77A>C (n.*77A>C) c.3286A>C (p.Thr1096Pro) c.2557A>C (p.Thr853Pro) n.4789A>C c.2395A>C (p.Thr799Pro) n.3962A>C n.2646A>C n.2137A>C c.*219A>C (n.*219A>C) c.976A>C (p.Thr326Pro) c.3442A>C (p.Thr1148Pro) c.208A>C n.4150A>C c.3211A>C (p.Thr1071Pro) c.3205A>C (p.Thr1069Pro) | dbSNP |
16 | g.23603579A= | CA2213424437 | PALB2 | c.3447T= (p.Cys1149=) c.*926T= (n.*926T=) c.*76T= (n.*76T=) c.3285T= (p.Cys1095=) c.2556T= (p.Cys852=) n.4788T= c.2394T= (p.Cys798=) n.3961T= n.2645T= n.2136T= c.*218T= (n.*218T=) c.975T= (p.Cys325=) c.3441T= (p.Cys1147=) c.207T= n.4149T= c.3210T= (p.Cys1070=) c.3204T= (p.Cys1068=) | |
16 | g.23603579A>C | CA395138134 | PALB2 | c.3447T>G (p.Cys1149Trp) c.*926T>G (n.*926T>G) c.*76T>G (n.*76T>G) c.3285T>G (p.Cys1095Trp) c.2556T>G (p.Cys852Trp) n.4788T>G c.2394T>G (p.Cys798Trp) n.3961T>G n.2645T>G n.2136T>G c.*218T>G (n.*218T>G) c.975T>G (p.Cys325Trp) c.3441T>G (p.Cys1147Trp) c.207T>G n.4149T>G c.3210T>G (p.Cys1070Trp) c.3204T>G (p.Cys1068Trp) | |
16 | g.23603579A>G | CA494173635 | PALB2 | c.3447T>C (p.Cys1149=) c.*926T>C (n.*926T>C) c.*76T>C (n.*76T>C) c.3285T>C (p.Cys1095=) c.2556T>C (p.Cys852=) n.4788T>C c.2394T>C (p.Cys798=) n.3961T>C n.2645T>C n.2136T>C c.*218T>C (n.*218T>C) c.975T>C (p.Cys325=) c.3441T>C (p.Cys1147=) c.207T>C n.4149T>C c.3210T>C (p.Cys1070=) c.3204T>C (p.Cys1068=) | |
16 | g.23603579A>T | CA395138136 | PALB2 | c.3447T>A (p.Cys1149Ter) c.*926T>A (n.*926T>A) c.*76T>A (n.*76T>A) c.3285T>A (p.Cys1095Ter) c.2556T>A (p.Cys852Ter) n.4788T>A c.2394T>A (p.Cys798Ter) n.3961T>A n.2645T>A n.2136T>A c.*218T>A (n.*218T>A) c.975T>A (p.Cys325Ter) c.3441T>A (p.Cys1147Ter) c.207T>A n.4149T>A c.3210T>A (p.Cys1070Ter) c.3204T>A (p.Cys1068Ter) | ClinVar dbSNP |
16 | g.23603580C>A | CA395138138 | PALB2 | c.3446G>T (p.Cys1149Phe) c.*925G>T (n.*925G>T) c.*75G>T (n.*75G>T) c.3284G>T (p.Cys1095Phe) c.2555G>T (p.Cys852Phe) n.4787G>T c.2393G>T (p.Cys798Phe) n.3960G>T n.2644G>T n.2135G>T c.*217G>T (n.*217G>T) c.974G>T (p.Cys325Phe) c.3440G>T (p.Cys1147Phe) c.206G>T n.4148G>T c.3209G>T (p.Cys1070Phe) c.3203G>T (p.Cys1068Phe) | |
16 | g.23603580C>G | CA395138140 | PALB2 | c.3446G>C (p.Cys1149Ser) c.*925G>C (n.*925G>C) c.*75G>C (n.*75G>C) c.3284G>C (p.Cys1095Ser) c.2555G>C (p.Cys852Ser) n.4787G>C c.2393G>C (p.Cys798Ser) n.3960G>C n.2644G>C n.2135G>C c.*217G>C (n.*217G>C) c.974G>C (p.Cys325Ser) c.3440G>C (p.Cys1147Ser) c.206G>C n.4148G>C c.3209G>C (p.Cys1070Ser) c.3203G>C (p.Cys1068Ser) | dbSNP |
16 | g.23603580C>T | CA395138142 | PALB2 | c.3446G>A (p.Cys1149Tyr) c.*925G>A (n.*925G>A) c.*75G>A (n.*75G>A) c.3284G>A (p.Cys1095Tyr) c.2555G>A (p.Cys852Tyr) n.4787G>A c.2393G>A (p.Cys798Tyr) n.3960G>A n.2644G>A n.2135G>A c.*217G>A (n.*217G>A) c.974G>A (p.Cys325Tyr) c.3440G>A (p.Cys1147Tyr) c.206G>A n.4148G>A c.3209G>A (p.Cys1070Tyr) c.3203G>A (p.Cys1068Tyr) | dbSNP |
16 | g.23603581A= | CA2213424440 | PALB2 | c.3445T= (p.Cys1149=) c.*924T= (n.*924T=) c.*74T= (n.*74T=) c.3283T= (p.Cys1095=) c.2554T= (p.Cys852=) n.4786T= c.2392T= (p.Cys798=) n.3959T= n.2643T= n.2134T= c.*216T= (n.*216T=) c.973T= (p.Cys325=) c.3439T= (p.Cys1147=) c.205T= n.4147T= c.3208T= (p.Cys1070=) c.3202T= (p.Cys1068=) | |
16 | g.23603581A>C | CA395138144 | PALB2 | c.3445T>G (p.Cys1149Gly) c.*924T>G (n.*924T>G) c.*74T>G (n.*74T>G) c.3283T>G (p.Cys1095Gly) c.2554T>G (p.Cys852Gly) n.4786T>G c.2392T>G (p.Cys798Gly) n.3959T>G n.2643T>G n.2134T>G c.*216T>G (n.*216T>G) c.973T>G (p.Cys325Gly) c.3439T>G (p.Cys1147Gly) c.205T>G n.4147T>G c.3208T>G (p.Cys1070Gly) c.3202T>G (p.Cys1068Gly) | ClinVar |
16 | g.23603581A>G | CA395138146 | PALB2 | c.3445T>C (p.Cys1149Arg) c.*924T>C (n.*924T>C) c.*74T>C (n.*74T>C) c.3283T>C (p.Cys1095Arg) c.2554T>C (p.Cys852Arg) n.4786T>C c.2392T>C (p.Cys798Arg) n.3959T>C n.2643T>C n.2134T>C c.*216T>C (n.*216T>C) c.973T>C (p.Cys325Arg) c.3439T>C (p.Cys1147Arg) c.205T>C n.4147T>C c.3208T>C (p.Cys1070Arg) c.3202T>C (p.Cys1068Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.23603581A>T | CA395138148 | PALB2 | c.3445T>A (p.Cys1149Ser) c.*924T>A (n.*924T>A) c.*74T>A (n.*74T>A) c.3283T>A (p.Cys1095Ser) c.2554T>A (p.Cys852Ser) n.4786T>A c.2392T>A (p.Cys798Ser) n.3959T>A n.2643T>A n.2134T>A c.*216T>A (n.*216T>A) c.973T>A (p.Cys325Ser) c.3439T>A (p.Cys1147Ser) c.205T>A n.4147T>A c.3208T>A (p.Cys1070Ser) c.3202T>A (p.Cys1068Ser) | dbSNP |
16 | g.23603582C>A | CA7963337 | PALB2 | c.3444G>T (p.Gln1148His) c.*923G>T (n.*923G>T) c.*73G>T (n.*73G>T) c.3282G>T (p.Gln1094His) c.2553G>T (p.Gln851His) n.4785G>T c.2391G>T (p.Gln797His) n.3958G>T n.2642G>T n.2133G>T c.*215G>T (n.*215G>T) c.972G>T (p.Gln324His) c.3438G>T (p.Gln1146His) c.204G>T n.4146G>T c.3207G>T (p.Gln1069His) c.3201G>T (p.Gln1067His) | ClinVar dbSNP ExAC |
16 | g.23603582C= | CA2213424442 | PALB2 | c.3444G= (p.Gln1148=) c.*923G= (n.*923G=) c.*73G= (n.*73G=) c.3282G= (p.Gln1094=) c.2553G= (p.Gln851=) n.4785G= c.2391G= (p.Gln797=) n.3958G= n.2642G= n.2133G= c.*215G= (n.*215G=) c.972G= (p.Gln324=) c.3438G= (p.Gln1146=) c.204G= n.4146G= c.3207G= (p.Gln1069=) c.3201G= (p.Gln1067=) | |
16 | g.23603582C>G | CA395138150 | PALB2 | c.3444G>C (p.Gln1148His) c.*923G>C (n.*923G>C) c.*73G>C (n.*73G>C) c.3282G>C (p.Gln1094His) c.2553G>C (p.Gln851His) n.4785G>C c.2391G>C (p.Gln797His) n.3958G>C n.2642G>C n.2133G>C c.*215G>C (n.*215G>C) c.972G>C (p.Gln324His) c.3438G>C (p.Gln1146His) c.204G>C n.4146G>C c.3207G>C (p.Gln1069His) c.3201G>C (p.Gln1067His) | dbSNP |
16 | g.23603582C>T | CA494173642 | PALB2 | c.3444G>A (p.Gln1148=) c.*923G>A (n.*923G>A) c.*73G>A (n.*73G>A) c.3282G>A (p.Gln1094=) c.2553G>A (p.Gln851=) n.4785G>A c.2391G>A (p.Gln797=) n.3958G>A n.2642G>A n.2133G>A c.*215G>A (n.*215G>A) c.972G>A (p.Gln324=) c.3438G>A (p.Gln1146=) c.204G>A n.4146G>A c.3207G>A (p.Gln1069=) c.3201G>A (p.Gln1067=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603583T>A | CA395138152 | PALB2 | c.3443A>T (p.Gln1148Leu) c.*922A>T (n.*922A>T) c.*72A>T (n.*72A>T) c.3281A>T (p.Gln1094Leu) c.2552A>T (p.Gln851Leu) n.4784A>T c.2390A>T (p.Gln797Leu) n.3957A>T n.2641A>T n.2132A>T c.*214A>T (n.*214A>T) c.971A>T (p.Gln324Leu) c.3437A>T (p.Gln1146Leu) c.203A>T n.4145A>T c.3206A>T (p.Gln1069Leu) c.3200A>T (p.Gln1067Leu) | ClinVar dbSNP |
16 | g.23603583T>C | CA288481 | PALB2 | c.3443A>G (p.Gln1148Arg) c.*922A>G (n.*922A>G) c.*72A>G (n.*72A>G) c.3281A>G (p.Gln1094Arg) c.2552A>G (p.Gln851Arg) n.4784A>G c.2390A>G (p.Gln797Arg) n.3957A>G n.2641A>G n.2132A>G c.*214A>G (n.*214A>G) c.971A>G (p.Gln324Arg) c.3437A>G (p.Gln1146Arg) c.203A>G n.4145A>G c.3206A>G (p.Gln1069Arg) c.3200A>G (p.Gln1067Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603583T>G | CA395138154 | PALB2 | c.3443A>C (p.Gln1148Pro) c.*922A>C (n.*922A>C) c.*72A>C (n.*72A>C) c.3281A>C (p.Gln1094Pro) c.2552A>C (p.Gln851Pro) n.4784A>C c.2390A>C (p.Gln797Pro) n.3957A>C n.2641A>C n.2132A>C c.*214A>C (n.*214A>C) c.971A>C (p.Gln324Pro) c.3437A>C (p.Gln1146Pro) c.203A>C n.4145A>C c.3206A>C (p.Gln1069Pro) c.3200A>C (p.Gln1067Pro) | |
16 | g.23603583T= | CA2213424444 | PALB2 | c.3443A= (p.Gln1148=) c.*922A= (n.*922A=) c.*72A= (n.*72A=) c.3281A= (p.Gln1094=) c.2552A= (p.Gln851=) n.4784A= c.2390A= (p.Gln797=) n.3957A= n.2641A= n.2132A= c.*214A= (n.*214A=) c.971A= (p.Gln324=) c.3437A= (p.Gln1146=) c.203A= n.4145A= c.3206A= (p.Gln1069=) c.3200A= (p.Gln1067=) | |
16 | g.23603584G>A | CA395138158 | PALB2 | c.3442C>T (p.Gln1148Ter) c.*921C>T (n.*921C>T) c.*71C>T (n.*71C>T) c.3280C>T (p.Gln1094Ter) c.2551C>T (p.Gln851Ter) n.4783C>T c.2389C>T (p.Gln797Ter) n.3956C>T n.2640C>T n.2131C>T c.*213C>T (n.*213C>T) c.970C>T (p.Gln324Ter) c.3436C>T (p.Gln1146Ter) c.202C>T n.4144C>T c.3205C>T (p.Gln1069Ter) c.3199C>T (p.Gln1067Ter) | ClinVar dbSNP COSMIC |
16 | g.23603584G>C | CA10584501 | PALB2 | c.3442C>G (p.Gln1148Glu) c.*921C>G (n.*921C>G) c.*71C>G (n.*71C>G) c.3280C>G (p.Gln1094Glu) c.2551C>G (p.Gln851Glu) n.4783C>G c.2389C>G (p.Gln797Glu) n.3956C>G n.2640C>G n.2131C>G c.*213C>G (n.*213C>G) c.970C>G (p.Gln324Glu) c.3436C>G (p.Gln1146Glu) c.202C>G n.4144C>G c.3205C>G (p.Gln1069Glu) c.3199C>G (p.Gln1067Glu) | ClinVar dbSNP gnomAD v4 |
16 | g.23603584G= | CA2213424448 | PALB2 | c.3442C= (p.Gln1148=) c.*921C= (n.*921C=) c.*71C= (n.*71C=) c.3280C= (p.Gln1094=) c.2551C= (p.Gln851=) n.4783C= c.2389C= (p.Gln797=) n.3956C= n.2640C= n.2131C= c.*213C= (n.*213C=) c.970C= (p.Gln324=) c.3436C= (p.Gln1146=) c.202C= n.4144C= c.3205C= (p.Gln1069=) c.3199C= (p.Gln1067=) | |
16 | g.23603584G>T | CA10584502 | PALB2 | c.3442C>A (p.Gln1148Lys) c.*921C>A (n.*921C>A) c.*71C>A (n.*71C>A) c.3280C>A (p.Gln1094Lys) c.2551C>A (p.Gln851Lys) n.4783C>A c.2389C>A (p.Gln797Lys) n.3956C>A n.2640C>A n.2131C>A c.*213C>A (n.*213C>A) c.970C>A (p.Gln324Lys) c.3436C>A (p.Gln1146Lys) c.202C>A n.4144C>A c.3205C>A (p.Gln1069Lys) c.3199C>A (p.Gln1067Lys) | ClinVar dbSNP gnomAD v4 |
16 | g.23603586_23603589del | CA2695197575 | PALB2 | c.3439_3442del (p.Gly1147SerfsTer17) c.*918_*921del (n.*918_*921del) c.*68_*71del (n.*68_*71del) c.3277_3280del (p.Gly1093SerfsTer17) c.2548_2551del (p.Gly850SerfsTer17) n.4780_4783del c.2386_2389del (p.Gly796SerfsTer17) n.3953_3956del n.2637_2640del n.2128_2131del c.*210_*213del (n.*210_*213del) c.967_970del (p.Gly323SerfsTer17) c.3433_3436del (p.Gly1145SerfsTer17) c.199_202del n.4141_4144del c.3202_3205del (p.Gly1068SerfsTer17) c.3196_3199del (p.Gly1066SerfsTer17) | ClinVar |
16 | g.23603585A>C | CA494173647 | PALB2 | c.3441T>G (p.Gly1147=) c.*920T>G (n.*920T>G) c.*70T>G (n.*70T>G) c.3279T>G (p.Gly1093=) c.2550T>G (p.Gly850=) n.4782T>G c.2388T>G (p.Gly796=) n.3955T>G n.2639T>G n.2130T>G c.*212T>G (n.*212T>G) c.969T>G (p.Gly323=) c.3435T>G (p.Gly1145=) c.201T>G n.4143T>G c.3204T>G (p.Gly1068=) c.3198T>G (p.Gly1066=) | |
16 | g.23603585A>G | CA494173648 | PALB2 | c.3441T>C (p.Gly1147=) c.*920T>C (n.*920T>C) c.*70T>C (n.*70T>C) c.3279T>C (p.Gly1093=) c.2550T>C (p.Gly850=) n.4782T>C c.2388T>C (p.Gly796=) n.3955T>C n.2639T>C n.2130T>C c.*212T>C (n.*212T>C) c.969T>C (p.Gly323=) c.3435T>C (p.Gly1145=) c.201T>C n.4143T>C c.3204T>C (p.Gly1068=) c.3198T>C (p.Gly1066=) | dbSNP |
16 | g.23603585A>T | CA494173649 | PALB2 | c.3441T>A (p.Gly1147=) c.*920T>A (n.*920T>A) c.*70T>A (n.*70T>A) c.3279T>A (p.Gly1093=) c.2550T>A (p.Gly850=) n.4782T>A c.2388T>A (p.Gly796=) n.3955T>A n.2639T>A n.2130T>A c.*212T>A (n.*212T>A) c.969T>A (p.Gly323=) c.3435T>A (p.Gly1145=) c.201T>A n.4143T>A c.3204T>A (p.Gly1068=) c.3198T>A (p.Gly1066=) | dbSNP |
16 | g.23603586C>A | CA395138160 | PALB2 | c.3440G>T (p.Gly1147Val) c.*919G>T (n.*919G>T) c.*69G>T (n.*69G>T) c.3278G>T (p.Gly1093Val) c.2549G>T (p.Gly850Val) n.4781G>T c.2387G>T (p.Gly796Val) n.3954G>T n.2638G>T n.2129G>T c.*211G>T (n.*211G>T) c.968G>T (p.Gly323Val) c.3434G>T (p.Gly1145Val) c.200G>T n.4142G>T c.3203G>T (p.Gly1068Val) c.3197G>T (p.Gly1066Val) | ClinVar dbSNP |
16 | g.23603586C= | CA2213424451 | PALB2 | c.3440G= (p.Gly1147=) c.*919G= (n.*919G=) c.*69G= (n.*69G=) c.3278G= (p.Gly1093=) c.2549G= (p.Gly850=) n.4781G= c.2387G= (p.Gly796=) n.3954G= n.2638G= n.2129G= c.*211G= (n.*211G=) c.968G= (p.Gly323=) c.3434G= (p.Gly1145=) c.200G= n.4142G= c.3203G= (p.Gly1068=) c.3197G= (p.Gly1066=) | |
16 | g.23603586C>G | CA395138162 | PALB2 | c.3440G>C (p.Gly1147Ala) c.*919G>C (n.*919G>C) c.*69G>C (n.*69G>C) c.3278G>C (p.Gly1093Ala) c.2549G>C (p.Gly850Ala) n.4781G>C c.2387G>C (p.Gly796Ala) n.3954G>C n.2638G>C n.2129G>C c.*211G>C (n.*211G>C) c.968G>C (p.Gly323Ala) c.3434G>C (p.Gly1145Ala) c.200G>C n.4142G>C c.3203G>C (p.Gly1068Ala) c.3197G>C (p.Gly1066Ala) | dbSNP |
16 | g.23603586C>T | CA395138163 | PALB2 | c.3440G>A (p.Gly1147Asp) c.*919G>A (n.*919G>A) c.*69G>A (n.*69G>A) c.3278G>A (p.Gly1093Asp) c.2549G>A (p.Gly850Asp) n.4781G>A c.2387G>A (p.Gly796Asp) n.3954G>A n.2638G>A n.2129G>A c.*211G>A (n.*211G>A) c.968G>A (p.Gly323Asp) c.3434G>A (p.Gly1145Asp) c.200G>A n.4142G>A c.3203G>A (p.Gly1068Asp) c.3197G>A (p.Gly1066Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603587C>A | CA7963338 | PALB2 | c.3439G>T (p.Gly1147Cys) c.*918G>T (n.*918G>T) c.*68G>T (n.*68G>T) c.3277G>T (p.Gly1093Cys) c.2548G>T (p.Gly850Cys) n.4780G>T c.2386G>T (p.Gly796Cys) n.3953G>T n.2637G>T n.2128G>T c.*210G>T (n.*210G>T) c.967G>T (p.Gly323Cys) c.3433G>T (p.Gly1145Cys) c.199G>T n.4141G>T c.3202G>T (p.Gly1068Cys) c.3196G>T (p.Gly1066Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603587C= | CA2213424455 | PALB2 | c.3439G= (p.Gly1147=) c.*918G= (n.*918G=) c.*68G= (n.*68G=) c.3277G= (p.Gly1093=) c.2548G= (p.Gly850=) n.4780G= c.2386G= (p.Gly796=) n.3953G= n.2637G= n.2128G= c.*210G= (n.*210G=) c.967G= (p.Gly323=) c.3433G= (p.Gly1145=) c.199G= n.4141G= c.3202G= (p.Gly1068=) c.3196G= (p.Gly1066=) | |
16 | g.23603587C>G | CA269622 | PALB2 | c.3439G>C (p.Gly1147Arg) c.*918G>C (n.*918G>C) c.*68G>C (n.*68G>C) c.3277G>C (p.Gly1093Arg) c.2548G>C (p.Gly850Arg) n.4780G>C c.2386G>C (p.Gly796Arg) n.3953G>C n.2637G>C n.2128G>C c.*210G>C (n.*210G>C) c.967G>C (p.Gly323Arg) c.3433G>C (p.Gly1145Arg) c.199G>C n.4141G>C c.3202G>C (p.Gly1068Arg) c.3196G>C (p.Gly1066Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.23603587C>T | CA193870 | PALB2 | c.3439G>A (p.Gly1147Ser) c.*918G>A (n.*918G>A) c.*68G>A (n.*68G>A) c.3277G>A (p.Gly1093Ser) c.2548G>A (p.Gly850Ser) n.4780G>A c.2386G>A (p.Gly796Ser) n.3953G>A n.2637G>A n.2128G>A c.*210G>A (n.*210G>A) c.967G>A (p.Gly323Ser) c.3433G>A (p.Gly1145Ser) c.199G>A n.4141G>A c.3202G>A (p.Gly1068Ser) c.3196G>A (p.Gly1066Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.23603587_23603588insTCTC | CA2580610735 | PALB2 | c.3439_3440insAGAG (p.Gly1147GlufsTer13) c.*918_*919insAGAG (n.*918_*919insAGAG) c.*68_*69insAGAG (n.*68_*69insAGAG) c.3277_3278insAGAG (p.Gly1093GlufsTer13) c.2548_2549insAGAG (p.Gly850GlufsTer13) n.4780_4781insAGAG c.2386_2387insAGAG (p.Gly796GlufsTer13) n.3953_3954insAGAG n.2637_2638insAGAG n.2128_2129insAGAG c.*210_*211insAGAG (n.*210_*211insAGAG) c.967_968insAGAG (p.Gly323GlufsTer13) c.3433_3434insAGAG (p.Gly1145GlufsTer13) c.199_200insAGAG n.4141_4142insAGAG c.3202_3203insAGAG (p.Gly1068GlufsTer13) c.3196_3197insAGAG (p.Gly1066GlufsTer13) | |
16 | g.23603587_23603588delinsAT | CA658658452 | PALB2 | c.3438_3439delinsAT (p.Gly1147Cys) c.*917_*918delinsAT (n.*917_*918delinsAT) c.*67_*68delinsAT (n.*67_*68delinsAT) c.3276_3277delinsAT (p.Gly1093Cys) c.2547_2548delinsAT (p.Gly850Cys) n.4779_4780delinsAT c.2385_2386delinsAT (p.Gly796Cys) n.3952_3953delinsAT n.2636_2637delinsAT n.2127_2128delinsAT c.*209_*210delinsAT (n.*209_*210delinsAT) c.966_967delinsAT (p.Gly323Cys) c.3432_3433delinsAT (p.Gly1145Cys) c.198_199delinsAT n.4140_4141delinsAT c.3201_3202delinsAT (p.Gly1068Cys) c.3195_3196delinsAT (p.Gly1066Cys) | ClinVar dbSNP |
16 | g.23603587_23603588delinsCG | CA2213424456 | PALB2 | c.3438_3439delinsCG (p.Leu1146=) c.*917_*918delinsCG (n.*917_*918delinsCG) c.*67_*68delinsCG (n.*67_*68delinsCG) c.3276_3277delinsCG (p.Leu1092=) c.2547_2548delinsCG (p.Leu849=) n.4779_4780delinsCG c.2385_2386delinsCG (p.Leu795=) n.3952_3953delinsCG n.2636_2637delinsCG n.2127_2128delinsCG c.*209_*210delinsCG (n.*209_*210delinsCG) c.966_967delinsCG (p.Leu322=) c.3432_3433delinsCG (p.Leu1144=) c.198_199delinsCG n.4140_4141delinsCG c.3201_3202delinsCG (p.Leu1067=) c.3195_3196delinsCG (p.Leu1065=) | |
16 | g.23603588del | CA2697555780 | PALB2 | c.3438del (p.Gly1147ValfsTer18) c.*917del (n.*917del) c.*67del (n.*67del) c.3276del (p.Gly1093ValfsTer18) c.2547del (p.Gly850ValfsTer18) n.4779del c.2385del (p.Gly796ValfsTer18) n.3952del n.2636del n.2127del c.*209del (n.*209del) c.966del (p.Gly323ValfsTer18) c.3432del (p.Gly1145ValfsTer18) c.198del n.4140del c.3201del (p.Gly1068ValfsTer18) c.3195del (p.Gly1066ValfsTer18) | ClinVar |
16 | g.23603588G>A | CA7963339 | PALB2 | c.3438C>T (p.Leu1146=) c.*917C>T (n.*917C>T) c.*67C>T (n.*67C>T) c.3276C>T (p.Leu1092=) c.2547C>T (p.Leu849=) n.4779C>T c.2385C>T (p.Leu795=) n.3952C>T n.2636C>T n.2127C>T c.*209C>T (n.*209C>T) c.966C>T (p.Leu322=) c.3432C>T (p.Leu1144=) c.198C>T n.4140C>T c.3201C>T (p.Leu1067=) c.3195C>T (p.Leu1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603588G>C | CA7963340 | PALB2 | c.3438C>G (p.Leu1146=) c.*917C>G (n.*917C>G) c.*67C>G (n.*67C>G) c.3276C>G (p.Leu1092=) c.2547C>G (p.Leu849=) n.4779C>G c.2385C>G (p.Leu795=) n.3952C>G n.2636C>G n.2127C>G c.*209C>G (n.*209C>G) c.966C>G (p.Leu322=) c.3432C>G (p.Leu1144=) c.198C>G n.4140C>G c.3201C>G (p.Leu1067=) c.3195C>G (p.Leu1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603588G= | CA2213424461 | PALB2 | c.3438C= (p.Leu1146=) c.*917C= (n.*917C=) c.*67C= (n.*67C=) c.3276C= (p.Leu1092=) c.2547C= (p.Leu849=) n.4779C= c.2385C= (p.Leu795=) n.3952C= n.2636C= n.2127C= c.*209C= (n.*209C=) c.966C= (p.Leu322=) c.3432C= (p.Leu1144=) c.198C= n.4140C= c.3201C= (p.Leu1067=) c.3195C= (p.Leu1065=) | |
16 | g.23603588G>T | CA494173655 | PALB2 | c.3438C>A (p.Leu1146=) c.*917C>A (n.*917C>A) c.*67C>A (n.*67C>A) c.3276C>A (p.Leu1092=) c.2547C>A (p.Leu849=) n.4779C>A c.2385C>A (p.Leu795=) n.3952C>A n.2636C>A n.2127C>A c.*209C>A (n.*209C>A) c.966C>A (p.Leu322=) c.3432C>A (p.Leu1144=) c.198C>A n.4140C>A c.3201C>A (p.Leu1067=) c.3195C>A (p.Leu1065=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603589A= | CA2213424465 | PALB2 | c.3437T= (p.Leu1146=) c.*916T= (n.*916T=) c.*66T= (n.*66T=) c.3275T= (p.Leu1092=) c.2546T= (p.Leu849=) n.4778T= c.2384T= (p.Leu795=) n.3951T= n.2635T= n.2126T= c.*208T= (n.*208T=) c.965T= (p.Leu322=) c.3431T= (p.Leu1144=) c.197T= n.4139T= c.3200T= (p.Leu1067=) c.3194T= (p.Leu1065=) | |
16 | g.23603589A>C | CA395138169 | PALB2 | c.3437T>G (p.Leu1146Arg) c.*916T>G (n.*916T>G) c.*66T>G (n.*66T>G) c.3275T>G (p.Leu1092Arg) c.2546T>G (p.Leu849Arg) n.4778T>G c.2384T>G (p.Leu795Arg) n.3951T>G n.2635T>G n.2126T>G c.*208T>G (n.*208T>G) c.965T>G (p.Leu322Arg) c.3431T>G (p.Leu1144Arg) c.197T>G n.4139T>G c.3200T>G (p.Leu1067Arg) c.3194T>G (p.Leu1065Arg) | |
16 | g.23603589A>G | CA395138170 | PALB2 | c.3437T>C (p.Leu1146Pro) c.*916T>C (n.*916T>C) c.*66T>C (n.*66T>C) c.3275T>C (p.Leu1092Pro) c.2546T>C (p.Leu849Pro) n.4778T>C c.2384T>C (p.Leu795Pro) n.3951T>C n.2635T>C n.2126T>C c.*208T>C (n.*208T>C) c.965T>C (p.Leu322Pro) c.3431T>C (p.Leu1144Pro) c.197T>C n.4139T>C c.3200T>C (p.Leu1067Pro) c.3194T>C (p.Leu1065Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.23603589A>T | CA395138171 | PALB2 | c.3437T>A (p.Leu1146His) c.*916T>A (n.*916T>A) c.*66T>A (n.*66T>A) c.3275T>A (p.Leu1092His) c.2546T>A (p.Leu849His) n.4778T>A c.2384T>A (p.Leu795His) n.3951T>A n.2635T>A n.2126T>A c.*208T>A (n.*208T>A) c.965T>A (p.Leu322His) c.3431T>A (p.Leu1144His) c.197T>A n.4139T>A c.3200T>A (p.Leu1067His) c.3194T>A (p.Leu1065His) | dbSNP |
16 | g.23603590G>A | CA395138176 | PALB2 | c.3436C>T (p.Leu1146Phe) c.*915C>T (n.*915C>T) c.*65C>T (n.*65C>T) c.3274C>T (p.Leu1092Phe) c.2545C>T (p.Leu849Phe) n.4777C>T c.2383C>T (p.Leu795Phe) n.3950C>T n.2634C>T n.2125C>T c.*207C>T (n.*207C>T) c.964C>T (p.Leu322Phe) c.3430C>T (p.Leu1144Phe) c.196C>T n.4138C>T c.3199C>T (p.Leu1067Phe) c.3193C>T (p.Leu1065Phe) | dbSNP |
16 | g.23603590G>C | CA395138175 | PALB2 | c.3436C>G (p.Leu1146Val) c.*915C>G (n.*915C>G) c.*65C>G (n.*65C>G) c.3274C>G (p.Leu1092Val) c.2545C>G (p.Leu849Val) n.4777C>G c.2383C>G (p.Leu795Val) n.3950C>G n.2634C>G n.2125C>G c.*207C>G (n.*207C>G) c.964C>G (p.Leu322Val) c.3430C>G (p.Leu1144Val) c.196C>G n.4138C>G c.3199C>G (p.Leu1067Val) c.3193C>G (p.Leu1065Val) | ClinVar dbSNP gnomAD v4 |
16 | g.23603590G= | CA2213424467 | PALB2 | c.3436C= (p.Leu1146=) c.*915C= (n.*915C=) c.*65C= (n.*65C=) c.3274C= (p.Leu1092=) c.2545C= (p.Leu849=) n.4777C= c.2383C= (p.Leu795=) n.3950C= n.2634C= n.2125C= c.*207C= (n.*207C=) c.964C= (p.Leu322=) c.3430C= (p.Leu1144=) c.196C= n.4138C= c.3199C= (p.Leu1067=) c.3193C= (p.Leu1065=) | |
16 | g.23603590G>T | CA395138173 | PALB2 | c.3436C>A (p.Leu1146Ile) c.*915C>A (n.*915C>A) c.*65C>A (n.*65C>A) c.3274C>A (p.Leu1092Ile) c.2545C>A (p.Leu849Ile) n.4777C>A c.2383C>A (p.Leu795Ile) n.3950C>A n.2634C>A n.2125C>A c.*207C>A (n.*207C>A) c.964C>A (p.Leu322Ile) c.3430C>A (p.Leu1144Ile) c.196C>A n.4138C>A c.3199C>A (p.Leu1067Ile) c.3193C>A (p.Leu1065Ile) | ClinVar dbSNP |
16 | g.23603590_23603594delinsGAAGT | CA2213424468 | PALB2 | c.3432_3436delinsACTTC (p.Leu1144=) c.*911_*915delinsACTTC (n.*911_*915delinsACTTC) c.*61_*65delinsACTTC (n.*61_*65delinsACTTC) c.3270_3274delinsACTTC (p.Leu1090=) c.2541_2545delinsACTTC (p.Leu847=) n.4773_4777delinsACTTC c.2379_2383delinsACTTC (p.Leu793=) n.3946_3950delinsACTTC n.2630_2634delinsACTTC n.2121_2125delinsACTTC c.*203_*207delinsACTTC (n.*203_*207delinsACTTC) c.960_964delinsACTTC (p.Leu320=) c.3426_3430delinsACTTC (p.Leu1142=) c.192_196delinsACTTC n.4134_4138delinsACTTC c.3195_3199delinsACTTC (p.Leu1065=) c.3189_3193delinsACTTC (p.Leu1063=) | |
16 | g.23603591A>C | CA494173660 | PALB2 | c.3435T>G (p.Leu1145=) c.*914T>G (n.*914T>G) c.*64T>G (n.*64T>G) c.3273T>G (p.Leu1091=) c.2544T>G (p.Leu848=) n.4776T>G c.2382T>G (p.Leu794=) n.3949T>G n.2633T>G n.2124T>G c.*206T>G (n.*206T>G) c.963T>G (p.Leu321=) c.3429T>G (p.Leu1143=) c.195T>G n.4137T>G c.3198T>G (p.Leu1066=) c.3192T>G (p.Leu1064=) | |
16 | g.23603591A>G | CA494173662 | PALB2 | c.3435T>C (p.Leu1145=) c.*914T>C (n.*914T>C) c.*64T>C (n.*64T>C) c.3273T>C (p.Leu1091=) c.2544T>C (p.Leu848=) n.4776T>C c.2382T>C (p.Leu794=) n.3949T>C n.2633T>C n.2124T>C c.*206T>C (n.*206T>C) c.963T>C (p.Leu321=) c.3429T>C (p.Leu1143=) c.195T>C n.4137T>C c.3198T>C (p.Leu1066=) c.3192T>C (p.Leu1064=) | |
16 | g.23603591A>T | CA494173663 | PALB2 | c.3435T>A (p.Leu1145=) c.*914T>A (n.*914T>A) c.*64T>A (n.*64T>A) c.3273T>A (p.Leu1091=) c.2544T>A (p.Leu848=) n.4776T>A c.2382T>A (p.Leu794=) n.3949T>A n.2633T>A n.2124T>A c.*206T>A (n.*206T>A) c.963T>A (p.Leu321=) c.3429T>A (p.Leu1143=) c.195T>A n.4137T>A c.3198T>A (p.Leu1066=) c.3192T>A (p.Leu1064=) | |
16 | g.23603595_23603598del | CA192987 | PALB2 | c.3432_3435del (p.Leu1144PhefsTer20) c.*911_*914del (n.*911_*914del) c.*61_*64del (n.*61_*64del) c.3270_3273del (p.Leu1090PhefsTer20) c.2541_2544del (p.Leu847PhefsTer20) n.4773_4776del c.2379_2382del (p.Leu793PhefsTer20) n.3946_3949del n.2630_2633del n.2121_2124del c.*203_*206del (n.*203_*206del) c.960_963del (p.Leu320PhefsTer20) c.3426_3429del (p.Leu1142PhefsTer20) c.192_195del n.4134_4137del c.3195_3198del (p.Leu1065PhefsTer20) c.3189_3192del (p.Leu1063PhefsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603592A= | CA2213424471 | PALB2 | c.3434T= (p.Leu1145=) c.*913T= (n.*913T=) c.*63T= (n.*63T=) c.3272T= (p.Leu1091=) c.2543T= (p.Leu848=) n.4775T= c.2381T= (p.Leu794=) n.3948T= n.2632T= n.2123T= c.*205T= (n.*205T=) c.962T= (p.Leu321=) c.3428T= (p.Leu1143=) c.194T= n.4136T= c.3197T= (p.Leu1066=) c.3191T= (p.Leu1064=) | |
16 | g.23603592A>C | CA395138181 | PALB2 | c.3434T>G (p.Leu1145Arg) c.*913T>G (n.*913T>G) c.*63T>G (n.*63T>G) c.3272T>G (p.Leu1091Arg) c.2543T>G (p.Leu848Arg) n.4775T>G c.2381T>G (p.Leu794Arg) n.3948T>G n.2632T>G n.2123T>G c.*205T>G (n.*205T>G) c.962T>G (p.Leu321Arg) c.3428T>G (p.Leu1143Arg) c.194T>G n.4136T>G c.3197T>G (p.Leu1066Arg) c.3191T>G (p.Leu1064Arg) | |
16 | g.23603592A>G | CA269619 | PALB2 | c.3434T>C (p.Leu1145Pro) c.*913T>C (n.*913T>C) c.*63T>C (n.*63T>C) c.3272T>C (p.Leu1091Pro) c.2543T>C (p.Leu848Pro) n.4775T>C c.2381T>C (p.Leu794Pro) n.3948T>C n.2632T>C n.2123T>C c.*205T>C (n.*205T>C) c.962T>C (p.Leu321Pro) c.3428T>C (p.Leu1143Pro) c.194T>C n.4136T>C c.3197T>C (p.Leu1066Pro) c.3191T>C (p.Leu1064Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.23603592A>T | CA288478 | PALB2 | c.3434T>A (p.Leu1145His) c.*913T>A (n.*913T>A) c.*63T>A (n.*63T>A) c.3272T>A (p.Leu1091His) c.2543T>A (p.Leu848His) n.4775T>A c.2381T>A (p.Leu794His) n.3948T>A n.2632T>A n.2123T>A c.*205T>A (n.*205T>A) c.962T>A (p.Leu321His) c.3428T>A (p.Leu1143His) c.194T>A n.4136T>A c.3197T>A (p.Leu1066His) c.3191T>A (p.Leu1064His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603592_23603593delinsAG | CA2213424473 | PALB2 | c.3433_3434delinsCT (p.Leu1145=) c.*912_*913delinsCT (n.*912_*913delinsCT) c.*62_*63delinsCT (n.*62_*63delinsCT) c.3271_3272delinsCT (p.Leu1091=) c.2542_2543delinsCT (p.Leu848=) n.4774_4775delinsCT c.2380_2381delinsCT (p.Leu794=) n.3947_3948delinsCT n.2631_2632delinsCT n.2122_2123delinsCT c.*204_*205delinsCT (n.*204_*205delinsCT) c.961_962delinsCT (p.Leu321=) c.3427_3428delinsCT (p.Leu1143=) c.193_194delinsCT n.4135_4136delinsCT c.3196_3197delinsCT (p.Leu1066=) c.3190_3191delinsCT (p.Leu1064=) | |
16 | g.23603593del | CA7963341 | PALB2 | c.3433del (p.Leu1145PhefsTer20) c.*912del (n.*912del) c.*62del (n.*62del) c.3271del (p.Leu1091PhefsTer20) c.2542del (p.Leu848PhefsTer20) n.4774del c.2380del (p.Leu794PhefsTer20) n.3947del n.2631del n.2122del c.*204del (n.*204del) c.961del (p.Leu321PhefsTer20) c.3427del (p.Leu1143PhefsTer20) c.193del n.4135del c.3196del (p.Leu1066PhefsTer20) c.3190del (p.Leu1064PhefsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603593G>A | CA7963342 | PALB2 | c.3433C>T (p.Leu1145Phe) c.*912C>T (n.*912C>T) c.*62C>T (n.*62C>T) c.3271C>T (p.Leu1091Phe) c.2542C>T (p.Leu848Phe) n.4774C>T c.2380C>T (p.Leu794Phe) n.3947C>T n.2631C>T n.2122C>T c.*204C>T (n.*204C>T) c.961C>T (p.Leu321Phe) c.3427C>T (p.Leu1143Phe) c.193C>T n.4135C>T c.3196C>T (p.Leu1066Phe) c.3190C>T (p.Leu1064Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603593G>C | CA395138183 | PALB2 | c.3433C>G (p.Leu1145Val) c.*912C>G (n.*912C>G) c.*62C>G (n.*62C>G) c.3271C>G (p.Leu1091Val) c.2542C>G (p.Leu848Val) n.4774C>G c.2380C>G (p.Leu794Val) n.3947C>G n.2631C>G n.2122C>G c.*204C>G (n.*204C>G) c.961C>G (p.Leu321Val) c.3427C>G (p.Leu1143Val) c.193C>G n.4135C>G c.3196C>G (p.Leu1066Val) c.3190C>G (p.Leu1064Val) | ClinVar dbSNP |
16 | g.23603593G= | CA2213424476 | PALB2 | c.3433C= (p.Leu1145=) c.*912C= (n.*912C=) c.*62C= (n.*62C=) c.3271C= (p.Leu1091=) c.2542C= (p.Leu848=) n.4774C= c.2380C= (p.Leu794=) n.3947C= n.2631C= n.2122C= c.*204C= (n.*204C=) c.961C= (p.Leu321=) c.3427C= (p.Leu1143=) c.193C= n.4135C= c.3196C= (p.Leu1066=) c.3190C= (p.Leu1064=) | |
16 | g.23603593G>T | CA395138185 | PALB2 | c.3433C>A (p.Leu1145Ile) c.*912C>A (n.*912C>A) c.*62C>A (n.*62C>A) c.3271C>A (p.Leu1091Ile) c.2542C>A (p.Leu848Ile) n.4774C>A c.2380C>A (p.Leu794Ile) n.3947C>A n.2631C>A n.2122C>A c.*204C>A (n.*204C>A) c.961C>A (p.Leu321Ile) c.3427C>A (p.Leu1143Ile) c.193C>A n.4135C>A c.3196C>A (p.Leu1066Ile) c.3190C>A (p.Leu1064Ile) | dbSNP |
16 | g.23603594T>A | CA395138189 | PALB2 | c.3432A>T (p.Leu1144Phe) c.*911A>T (n.*911A>T) c.*61A>T (n.*61A>T) c.3270A>T (p.Leu1090Phe) c.2541A>T (p.Leu847Phe) n.4773A>T c.2379A>T (p.Leu793Phe) n.3946A>T n.2630A>T n.2121A>T c.*203A>T (n.*203A>T) c.960A>T (p.Leu320Phe) c.3426A>T (p.Leu1142Phe) c.192A>T n.4134A>T c.3195A>T (p.Leu1065Phe) c.3189A>T (p.Leu1063Phe) | dbSNP |
16 | g.23603594T>C | CA494173668 | PALB2 | c.3432A>G (p.Leu1144=) c.*911A>G (n.*911A>G) c.*61A>G (n.*61A>G) c.3270A>G (p.Leu1090=) c.2541A>G (p.Leu847=) n.4773A>G c.2379A>G (p.Leu793=) n.3946A>G n.2630A>G n.2121A>G c.*203A>G (n.*203A>G) c.960A>G (p.Leu320=) c.3426A>G (p.Leu1142=) c.192A>G n.4134A>G c.3195A>G (p.Leu1065=) c.3189A>G (p.Leu1063=) | |
16 | g.23603594T>G | CA395138191 | PALB2 | c.3432A>C (p.Leu1144Phe) c.*911A>C (n.*911A>C) c.*61A>C (n.*61A>C) c.3270A>C (p.Leu1090Phe) c.2541A>C (p.Leu847Phe) n.4773A>C c.2379A>C (p.Leu793Phe) n.3946A>C n.2630A>C n.2121A>C c.*203A>C (n.*203A>C) c.960A>C (p.Leu320Phe) c.3426A>C (p.Leu1142Phe) c.192A>C n.4134A>C c.3195A>C (p.Leu1065Phe) c.3189A>C (p.Leu1063Phe) | |
16 | g.23603594dup | CA294563 | PALB2 | c.3432dup (p.Leu1145ThrfsTer14) c.*911dup (n.*911dup) c.*61dup (n.*61dup) c.3270dup (p.Leu1091ThrfsTer14) c.2541dup (p.Leu848ThrfsTer14) n.4773dup c.2379dup (p.Leu794ThrfsTer14) n.3946dup n.2630dup n.2121dup c.*203dup (n.*203dup) c.960dup (p.Leu321ThrfsTer14) c.3426dup (p.Leu1143ThrfsTer14) c.192dup n.4134dup c.3195dup (p.Leu1066ThrfsTer14) c.3189dup (p.Leu1064ThrfsTer14) | ClinVar dbSNP |
16 | g.23603594_23603595delinsTA | CA2213424479 | PALB2 | c.3431_3432delinsTA (p.Leu1144=) c.*910_*911delinsTA (n.*910_*911delinsTA) c.*60_*61delinsTA (n.*60_*61delinsTA) c.3269_3270delinsTA (p.Leu1090=) c.2540_2541delinsTA (p.Leu847=) n.4772_4773delinsTA c.2378_2379delinsTA (p.Leu793=) n.3945_3946delinsTA n.2629_2630delinsTA n.2120_2121delinsTA c.*202_*203delinsTA (n.*202_*203delinsTA) c.959_960delinsTA (p.Leu320=) c.3425_3426delinsTA (p.Leu1142=) c.191_192delinsTA n.4133_4134delinsTA c.3194_3195delinsTA (p.Leu1065=) c.3188_3189delinsTA (p.Leu1063=) | |
16 | g.23603595A= | CA2213424483 | PALB2 | c.3431T= (p.Leu1144=) c.*910T= (n.*910T=) c.*60T= (n.*60T=) c.3269T= (p.Leu1090=) c.2540T= (p.Leu847=) n.4772T= c.2378T= (p.Leu793=) n.3945T= n.2629T= n.2120T= c.*202T= (n.*202T=) c.959T= (p.Leu320=) c.3425T= (p.Leu1142=) c.191T= n.4133T= c.3194T= (p.Leu1065=) c.3188T= (p.Leu1063=) | |
16 | g.23603595A>C | CA395138193 | PALB2 | c.3431T>G (p.Leu1144Ter) c.*910T>G (n.*910T>G) c.*60T>G (n.*60T>G) c.3269T>G (p.Leu1090Ter) c.2540T>G (p.Leu847Ter) n.4772T>G c.2378T>G (p.Leu793Ter) n.3945T>G n.2629T>G n.2120T>G c.*202T>G (n.*202T>G) c.959T>G (p.Leu320Ter) c.3425T>G (p.Leu1142Ter) c.191T>G n.4133T>G c.3194T>G (p.Leu1065Ter) c.3188T>G (p.Leu1063Ter) | ClinVar dbSNP |
16 | g.23603595A>G | CA395138195 | PALB2 | c.3431T>C (p.Leu1144Ser) c.*910T>C (n.*910T>C) c.*60T>C (n.*60T>C) c.3269T>C (p.Leu1090Ser) c.2540T>C (p.Leu847Ser) n.4772T>C c.2378T>C (p.Leu793Ser) n.3945T>C n.2629T>C n.2120T>C c.*202T>C (n.*202T>C) c.959T>C (p.Leu320Ser) c.3425T>C (p.Leu1142Ser) c.191T>C n.4133T>C c.3194T>C (p.Leu1065Ser) c.3188T>C (p.Leu1063Ser) | dbSNP |
16 | g.23603595A>T | CA395138197 | PALB2 | c.3431T>A (p.Leu1144Ter) c.*910T>A (n.*910T>A) c.*60T>A (n.*60T>A) c.3269T>A (p.Leu1090Ter) c.2540T>A (p.Leu847Ter) n.4772T>A c.2378T>A (p.Leu793Ter) n.3945T>A n.2629T>A n.2120T>A c.*202T>A (n.*202T>A) c.959T>A (p.Leu320Ter) c.3425T>A (p.Leu1142Ter) c.191T>A n.4133T>A c.3194T>A (p.Leu1065Ter) c.3188T>A (p.Leu1063Ter) | ClinVar dbSNP |
16 | g.23603596del | CA16042144 | PALB2 | c.3431del (p.Leu1144TyrfsTer21) c.*910del (n.*910del) c.*60del (n.*60del) c.3269del (p.Leu1090TyrfsTer21) c.2540del (p.Leu847TyrfsTer21) n.4772del c.2378del (p.Leu793TyrfsTer21) n.3945del n.2629del n.2120del c.*202del (n.*202del) c.959del (p.Leu320TyrfsTer21) c.3425del (p.Leu1142TyrfsTer21) c.191del n.4133del c.3194del (p.Leu1065TyrfsTer21) c.3188del (p.Leu1063TyrfsTer21) | ClinVar dbSNP |
16 | g.23603596A= | CA2213424486 | PALB2 | c.3430T= (p.Leu1144=) c.*909T= (n.*909T=) c.*59T= (n.*59T=) c.3268T= (p.Leu1090=) c.2539T= (p.Leu847=) n.4771T= c.2377T= (p.Leu793=) n.3944T= n.2628T= n.2119T= c.*201T= (n.*201T=) c.958T= (p.Leu320=) c.3424T= (p.Leu1142=) c.190T= n.4132T= c.3193T= (p.Leu1065=) c.3187T= (p.Leu1063=) | |
16 | g.23603596A>C | CA395138199 | PALB2 | c.3430T>G (p.Leu1144Val) c.*909T>G (n.*909T>G) c.*59T>G (n.*59T>G) c.3268T>G (p.Leu1090Val) c.2539T>G (p.Leu847Val) n.4771T>G c.2377T>G (p.Leu793Val) n.3944T>G n.2628T>G n.2119T>G c.*201T>G (n.*201T>G) c.958T>G (p.Leu320Val) c.3424T>G (p.Leu1142Val) c.190T>G n.4132T>G c.3193T>G (p.Leu1065Val) c.3187T>G (p.Leu1063Val) | |
16 | g.23603596A>G | CA494173669 | PALB2 | c.3430T>C (p.Leu1144=) c.*909T>C (n.*909T>C) c.*59T>C (n.*59T>C) c.3268T>C (p.Leu1090=) c.2539T>C (p.Leu847=) n.4771T>C c.2377T>C (p.Leu793=) n.3944T>C n.2628T>C n.2119T>C c.*201T>C (n.*201T>C) c.958T>C (p.Leu320=) c.3424T>C (p.Leu1142=) c.190T>C n.4132T>C c.3193T>C (p.Leu1065=) c.3187T>C (p.Leu1063=) | dbSNP |
16 | g.23603596A>T | CA395138201 | PALB2 | c.3430T>A (p.Leu1144Ile) c.*909T>A (n.*909T>A) c.*59T>A (n.*59T>A) c.3268T>A (p.Leu1090Ile) c.2539T>A (p.Leu847Ile) n.4771T>A c.2377T>A (p.Leu793Ile) n.3944T>A n.2628T>A n.2119T>A c.*201T>A (n.*201T>A) c.958T>A (p.Leu320Ile) c.3424T>A (p.Leu1142Ile) c.190T>A n.4132T>A c.3193T>A (p.Leu1065Ile) c.3187T>A (p.Leu1063Ile) | ClinVar dbSNP |
16 | g.23603597G>A | CA494173672 | PALB2 | c.3429C>T (p.Asp1143=) c.*908C>T (n.*908C>T) c.*58C>T (n.*58C>T) c.3267C>T (p.Asp1089=) c.2538C>T (p.Asp846=) n.4770C>T c.2376C>T (p.Asp792=) n.3943C>T n.2627C>T n.2118C>T c.*200C>T (n.*200C>T) c.957C>T (p.Asp319=) c.3423C>T (p.Asp1141=) c.189C>T n.4131C>T c.3192C>T (p.Asp1064=) c.3186C>T (p.Asp1062=) | ClinVar |
16 | g.23603597G>C | CA395138202 | PALB2 | c.3429C>G (p.Asp1143Glu) c.*908C>G (n.*908C>G) c.*58C>G (n.*58C>G) c.3267C>G (p.Asp1089Glu) c.2538C>G (p.Asp846Glu) n.4770C>G c.2376C>G (p.Asp792Glu) n.3943C>G n.2627C>G n.2118C>G c.*200C>G (n.*200C>G) c.957C>G (p.Asp319Glu) c.3423C>G (p.Asp1141Glu) c.189C>G n.4131C>G c.3192C>G (p.Asp1064Glu) c.3186C>G (p.Asp1062Glu) | dbSNP |
16 | g.23603597G>T | CA395138204 | PALB2 | c.3429C>A (p.Asp1143Glu) c.*908C>A (n.*908C>A) c.*58C>A (n.*58C>A) c.3267C>A (p.Asp1089Glu) c.2538C>A (p.Asp846Glu) n.4770C>A c.2376C>A (p.Asp792Glu) n.3943C>A n.2627C>A n.2118C>A c.*200C>A (n.*200C>A) c.957C>A (p.Asp319Glu) c.3423C>A (p.Asp1141Glu) c.189C>A n.4131C>A c.3192C>A (p.Asp1064Glu) c.3186C>A (p.Asp1062Glu) | |
16 | g.23603598T>A | CA395138205 | PALB2 | c.3428A>T (p.Asp1143Val) c.*907A>T (n.*907A>T) c.*57A>T (n.*57A>T) c.3266A>T (p.Asp1089Val) c.2537A>T (p.Asp846Val) n.4769A>T c.2375A>T (p.Asp792Val) n.3942A>T n.2626A>T n.2117A>T c.*199A>T (n.*199A>T) c.956A>T (p.Asp319Val) c.3422A>T (p.Asp1141Val) c.188A>T n.4130A>T c.3191A>T (p.Asp1064Val) c.3185A>T (p.Asp1062Val) | dbSNP |
16 | g.23603598T>C | CA395138206 | PALB2 | c.3428A>G (p.Asp1143Gly) c.*907A>G (n.*907A>G) c.*57A>G (n.*57A>G) c.3266A>G (p.Asp1089Gly) c.2537A>G (p.Asp846Gly) n.4769A>G c.2375A>G (p.Asp792Gly) n.3942A>G n.2626A>G n.2117A>G c.*199A>G (n.*199A>G) c.956A>G (p.Asp319Gly) c.3422A>G (p.Asp1141Gly) c.188A>G n.4130A>G c.3191A>G (p.Asp1064Gly) c.3185A>G (p.Asp1062Gly) | ClinVar |
16 | g.23603598T>G | CA395138207 | PALB2 | c.3428A>C (p.Asp1143Ala) c.*907A>C (n.*907A>C) c.*57A>C (n.*57A>C) c.3266A>C (p.Asp1089Ala) c.2537A>C (p.Asp846Ala) n.4769A>C c.2375A>C (p.Asp792Ala) n.3942A>C n.2626A>C n.2117A>C c.*199A>C (n.*199A>C) c.956A>C (p.Asp319Ala) c.3422A>C (p.Asp1141Ala) c.188A>C n.4130A>C c.3191A>C (p.Asp1064Ala) c.3185A>C (p.Asp1062Ala) | |
16 | g.23603599C>A | CA395138208 | PALB2 | c.3427G>T (p.Asp1143Tyr) c.*906G>T (n.*906G>T) c.*56G>T (n.*56G>T) c.3265G>T (p.Asp1089Tyr) c.2536G>T (p.Asp846Tyr) n.4768G>T c.2374G>T (p.Asp792Tyr) n.3941G>T n.2625G>T n.2116G>T c.*198G>T (n.*198G>T) c.955G>T (p.Asp319Tyr) c.3421G>T (p.Asp1141Tyr) c.187G>T n.4129G>T c.3190G>T (p.Asp1064Tyr) c.3184G>T (p.Asp1062Tyr) | dbSNP |
16 | g.23603599C= | CA2213424488 | PALB2 | c.3427G= (p.Asp1143=) c.*906G= (n.*906G=) c.*56G= (n.*56G=) c.3265G= (p.Asp1089=) c.2536G= (p.Asp846=) n.4768G= c.2374G= (p.Asp792=) n.3941G= n.2625G= n.2116G= c.*198G= (n.*198G=) c.955G= (p.Asp319=) c.3421G= (p.Asp1141=) c.187G= n.4129G= c.3190G= (p.Asp1064=) c.3184G= (p.Asp1062=) | |
16 | g.23603599C>G | CA395138209 | PALB2 | c.3427G>C (p.Asp1143His) c.*906G>C (n.*906G>C) c.*56G>C (n.*56G>C) c.3265G>C (p.Asp1089His) c.2536G>C (p.Asp846His) n.4768G>C c.2374G>C (p.Asp792His) n.3941G>C n.2625G>C n.2116G>C c.*198G>C (n.*198G>C) c.955G>C (p.Asp319His) c.3421G>C (p.Asp1141His) c.187G>C n.4129G>C c.3190G>C (p.Asp1064His) c.3184G>C (p.Asp1062His) | ClinVar dbSNP |
16 | g.23603599C>T | CA16620112 | PALB2 | c.3427G>A (p.Asp1143Asn) c.*906G>A (n.*906G>A) c.*56G>A (n.*56G>A) c.3265G>A (p.Asp1089Asn) c.2536G>A (p.Asp846Asn) n.4768G>A c.2374G>A (p.Asp792Asn) n.3941G>A n.2625G>A n.2116G>A c.*198G>A (n.*198G>A) c.955G>A (p.Asp319Asn) c.3421G>A (p.Asp1141Asn) c.187G>A n.4129G>A c.3190G>A (p.Asp1064Asn) c.3184G>A (p.Asp1062Asn) | ClinVar dbSNP |
16 | g.23603600C>A | CA395138210 | PALB2 | c.3426G>T (p.Trp1142Cys) c.*905G>T (n.*905G>T) c.*55G>T (n.*55G>T) c.3264G>T (p.Trp1088Cys) c.2535G>T (p.Trp845Cys) n.4767G>T c.2373G>T (p.Trp791Cys) n.3940G>T n.2624G>T n.2115G>T c.*197G>T (n.*197G>T) c.954G>T (p.Trp318Cys) c.3420G>T (p.Trp1140Cys) c.186G>T n.4128G>T c.3189G>T (p.Trp1063Cys) c.3183G>T (p.Trp1061Cys) | ClinVar dbSNP |
16 | g.23603600C= | CA2213424491 | PALB2 | c.3426G= (p.Trp1142=) c.*905G= (n.*905G=) c.*55G= (n.*55G=) c.3264G= (p.Trp1088=) c.2535G= (p.Trp845=) n.4767G= c.2373G= (p.Trp791=) n.3940G= n.2624G= n.2115G= c.*197G= (n.*197G=) c.954G= (p.Trp318=) c.3420G= (p.Trp1140=) c.186G= n.4128G= c.3189G= (p.Trp1063=) c.3183G= (p.Trp1061=) | |
16 | g.23603600C>G | CA395138211 | PALB2 | c.3426G>C (p.Trp1142Cys) c.*905G>C (n.*905G>C) c.*55G>C (n.*55G>C) c.3264G>C (p.Trp1088Cys) c.2535G>C (p.Trp845Cys) n.4767G>C c.2373G>C (p.Trp791Cys) n.3940G>C n.2624G>C n.2115G>C c.*197G>C (n.*197G>C) c.954G>C (p.Trp318Cys) c.3420G>C (p.Trp1140Cys) c.186G>C n.4128G>C c.3189G>C (p.Trp1063Cys) c.3183G>C (p.Trp1061Cys) | dbSNP |
16 | g.23603600C>T | CA10583349 | PALB2 | c.3426G>A (p.Trp1142Ter) c.*905G>A (n.*905G>A) c.*55G>A (n.*55G>A) c.3264G>A (p.Trp1088Ter) c.2535G>A (p.Trp845Ter) n.4767G>A c.2373G>A (p.Trp791Ter) n.3940G>A n.2624G>A n.2115G>A c.*197G>A (n.*197G>A) c.954G>A (p.Trp318Ter) c.3420G>A (p.Trp1140Ter) c.186G>A n.4128G>A c.3189G>A (p.Trp1063Ter) c.3183G>A (p.Trp1061Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.23603601C>A | CA395138213 | PALB2 | c.3425G>T (p.Trp1142Leu) c.*904G>T (n.*904G>T) c.*54G>T (n.*54G>T) c.3263G>T (p.Trp1088Leu) c.2534G>T (p.Trp845Leu) n.4766G>T c.2372G>T (p.Trp791Leu) n.3939G>T n.2623G>T n.2114G>T c.*196G>T (n.*196G>T) c.953G>T (p.Trp318Leu) c.3419G>T (p.Trp1140Leu) c.185G>T n.4127G>T c.3188G>T (p.Trp1063Leu) c.3182G>T (p.Trp1061Leu) | dbSNP |
16 | g.23603601C= | CA2213424494 | PALB2 | c.3425G= (p.Trp1142=) c.*904G= (n.*904G=) c.*54G= (n.*54G=) c.3263G= (p.Trp1088=) c.2534G= (p.Trp845=) n.4766G= c.2372G= (p.Trp791=) n.3939G= n.2623G= n.2114G= c.*196G= (n.*196G=) c.953G= (p.Trp318=) c.3419G= (p.Trp1140=) c.185G= n.4127G= c.3188G= (p.Trp1063=) c.3182G= (p.Trp1061=) | |
16 | g.23603601C>G | CA16615061 | PALB2 | c.3425G>C (p.Trp1142Ser) c.*904G>C (n.*904G>C) c.*54G>C (n.*54G>C) c.3263G>C (p.Trp1088Ser) c.2534G>C (p.Trp845Ser) n.4766G>C c.2372G>C (p.Trp791Ser) n.3939G>C n.2623G>C n.2114G>C c.*196G>C (n.*196G>C) c.953G>C (p.Trp318Ser) c.3419G>C (p.Trp1140Ser) c.185G>C n.4127G>C c.3188G>C (p.Trp1063Ser) c.3182G>C (p.Trp1061Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603601C>T | CA395138212 | PALB2 | c.3425G>A (p.Trp1142Ter) c.*904G>A (n.*904G>A) c.*54G>A (n.*54G>A) c.3263G>A (p.Trp1088Ter) c.2534G>A (p.Trp845Ter) n.4766G>A c.2372G>A (p.Trp791Ter) n.3939G>A n.2623G>A n.2114G>A c.*196G>A (n.*196G>A) c.953G>A (p.Trp318Ter) c.3419G>A (p.Trp1140Ter) c.185G>A n.4127G>A c.3188G>A (p.Trp1063Ter) c.3182G>A (p.Trp1061Ter) | ClinVar dbSNP |
16 | g.23603602A= | CA2213424496 | PALB2 | c.3424T= (p.Trp1142=) c.*903T= (n.*903T=) c.*53T= (n.*53T=) c.3262T= (p.Trp1088=) c.2533T= (p.Trp845=) n.4765T= c.2371T= (p.Trp791=) n.3938T= n.2622T= n.2113T= c.*195T= (n.*195T=) c.952T= (p.Trp318=) c.3418T= (p.Trp1140=) c.184T= n.4126T= c.3187T= (p.Trp1063=) c.3181T= (p.Trp1061=) | |
16 | g.23603602A>C | CA186642 | PALB2 | c.3424T>G (p.Trp1142Gly) c.*903T>G (n.*903T>G) c.*53T>G (n.*53T>G) c.3262T>G (p.Trp1088Gly) c.2533T>G (p.Trp845Gly) n.4765T>G c.2371T>G (p.Trp791Gly) n.3938T>G n.2622T>G n.2113T>G c.*195T>G (n.*195T>G) c.952T>G (p.Trp318Gly) c.3418T>G (p.Trp1140Gly) c.184T>G n.4126T>G c.3187T>G (p.Trp1063Gly) c.3181T>G (p.Trp1061Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.23603602A>G | CA395138214 | PALB2 | c.3424T>C (p.Trp1142Arg) c.*903T>C (n.*903T>C) c.*53T>C (n.*53T>C) c.3262T>C (p.Trp1088Arg) c.2533T>C (p.Trp845Arg) n.4765T>C c.2371T>C (p.Trp791Arg) n.3938T>C n.2622T>C n.2113T>C c.*195T>C (n.*195T>C) c.952T>C (p.Trp318Arg) c.3418T>C (p.Trp1140Arg) c.184T>C n.4126T>C c.3187T>C (p.Trp1063Arg) c.3181T>C (p.Trp1061Arg) | ClinVar dbSNP |
16 | g.23603602A>T | CA395138215 | PALB2 | c.3424T>A (p.Trp1142Arg) c.*903T>A (n.*903T>A) c.*53T>A (n.*53T>A) c.3262T>A (p.Trp1088Arg) c.2533T>A (p.Trp845Arg) n.4765T>A c.2371T>A (p.Trp791Arg) n.3938T>A n.2622T>A n.2113T>A c.*195T>A (n.*195T>A) c.952T>A (p.Trp318Arg) c.3418T>A (p.Trp1140Arg) c.184T>A n.4126T>A c.3187T>A (p.Trp1063Arg) c.3181T>A (p.Trp1061Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603604dup | CA2695222896 | PALB2 | c.3424dup (p.Trp1142LeufsTer17) c.*903dup (n.*903dup) c.*53dup (n.*53dup) c.3262dup (p.Trp1088LeufsTer17) c.2533dup (p.Trp845LeufsTer17) n.4765dup c.2371dup (p.Trp791LeufsTer17) n.3938dup n.2622dup n.2113dup c.*195dup (n.*195dup) c.952dup (p.Trp318LeufsTer17) c.3418dup (p.Trp1140LeufsTer17) c.184dup n.4126dup c.3187dup (p.Trp1063LeufsTer17) c.3181dup (p.Trp1061LeufsTer17) | |
16 | g.23603604del | CA923726383 | PALB2 | c.3424del (p.Trp1142GlyfsTer23) c.*903del (n.*903del) c.*53del (n.*53del) c.3262del (p.Trp1088GlyfsTer23) c.2533del (p.Trp845GlyfsTer23) n.4765del c.2371del (p.Trp791GlyfsTer23) n.3938del n.2622del n.2113del c.*195del (n.*195del) c.952del (p.Trp318GlyfsTer23) c.3418del (p.Trp1140GlyfsTer23) c.184del n.4126del c.3187del (p.Trp1063GlyfsTer23) c.3181del (p.Trp1061GlyfsTer23) | ClinVar dbSNP |
16 | g.23603603A= | CA2213424498 | PALB2 | c.3423T= (p.Ile1141=) c.*902T= (n.*902T=) c.*52T= (n.*52T=) c.3261T= (p.Ile1087=) c.2532T= (p.Ile844=) n.4764T= c.2370T= (p.Ile790=) n.3937T= n.2621T= n.2112T= c.*194T= (n.*194T=) c.951T= (p.Ile317=) c.3417T= (p.Ile1139=) c.183T= n.4125T= c.3186T= (p.Ile1062=) c.3180T= (p.Ile1060=) | |
16 | g.23603603A>C | CA10579915 | PALB2 | c.3423T>G (p.Ile1141Met) c.*902T>G (n.*902T>G) c.*52T>G (n.*52T>G) c.3261T>G (p.Ile1087Met) c.2532T>G (p.Ile844Met) n.4764T>G c.2370T>G (p.Ile790Met) n.3937T>G n.2621T>G n.2112T>G c.*194T>G (n.*194T>G) c.951T>G (p.Ile317Met) c.3417T>G (p.Ile1139Met) c.183T>G n.4125T>G c.3186T>G (p.Ile1062Met) c.3180T>G (p.Ile1060Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603603A>G | CA494173681 | PALB2 | c.3423T>C (p.Ile1141=) c.*902T>C (n.*902T>C) c.*52T>C (n.*52T>C) c.3261T>C (p.Ile1087=) c.2532T>C (p.Ile844=) n.4764T>C c.2370T>C (p.Ile790=) n.3937T>C n.2621T>C n.2112T>C c.*194T>C (n.*194T>C) c.951T>C (p.Ile317=) c.3417T>C (p.Ile1139=) c.183T>C n.4125T>C c.3186T>C (p.Ile1062=) c.3180T>C (p.Ile1060=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603603A>T | CA494173679 | PALB2 | c.3423T>A (p.Ile1141=) c.*902T>A (n.*902T>A) c.*52T>A (n.*52T>A) c.3261T>A (p.Ile1087=) c.2532T>A (p.Ile844=) n.4764T>A c.2370T>A (p.Ile790=) n.3937T>A n.2621T>A n.2112T>A c.*194T>A (n.*194T>A) c.951T>A (p.Ile317=) c.3417T>A (p.Ile1139=) c.183T>A n.4125T>A c.3186T>A (p.Ile1062=) c.3180T>A (p.Ile1060=) | |
16 | g.23603604A>C | CA395138216 | PALB2 | c.3422T>G (p.Ile1141Ser) c.*901T>G (n.*901T>G) c.*51T>G (n.*51T>G) c.3260T>G (p.Ile1087Ser) c.2531T>G (p.Ile844Ser) n.4763T>G c.2369T>G (p.Ile790Ser) n.3936T>G n.2620T>G n.2111T>G c.*193T>G (n.*193T>G) c.950T>G (p.Ile317Ser) c.3416T>G (p.Ile1139Ser) c.182T>G n.4124T>G c.3185T>G (p.Ile1062Ser) c.3179T>G (p.Ile1060Ser) | dbSNP |
16 | g.23603604A>G | CA395138217 | PALB2 | c.3422T>C (p.Ile1141Thr) c.*901T>C (n.*901T>C) c.*51T>C (n.*51T>C) c.3260T>C (p.Ile1087Thr) c.2531T>C (p.Ile844Thr) n.4763T>C c.2369T>C (p.Ile790Thr) n.3936T>C n.2620T>C n.2111T>C c.*193T>C (n.*193T>C) c.950T>C (p.Ile317Thr) c.3416T>C (p.Ile1139Thr) c.182T>C n.4124T>C c.3185T>C (p.Ile1062Thr) c.3179T>C (p.Ile1060Thr) | ClinVar |
16 | g.23603604A>T | CA395138218 | PALB2 | c.3422T>A (p.Ile1141Asn) c.*901T>A (n.*901T>A) c.*51T>A (n.*51T>A) c.3260T>A (p.Ile1087Asn) c.2531T>A (p.Ile844Asn) n.4763T>A c.2369T>A (p.Ile790Asn) n.3936T>A n.2620T>A n.2111T>A c.*193T>A (n.*193T>A) c.950T>A (p.Ile317Asn) c.3416T>A (p.Ile1139Asn) c.182T>A n.4124T>A c.3185T>A (p.Ile1062Asn) c.3179T>A (p.Ile1060Asn) | dbSNP |
16 | g.23603605T>A | CA395138219 | PALB2 | c.3421A>T (p.Ile1141Phe) c.*900A>T (n.*900A>T) c.*50A>T (n.*50A>T) c.3259A>T (p.Ile1087Phe) c.2530A>T (p.Ile844Phe) n.4762A>T c.2368A>T (p.Ile790Phe) n.3935A>T n.2619A>T n.2110A>T c.*192A>T (n.*192A>T) c.949A>T (p.Ile317Phe) c.3415A>T (p.Ile1139Phe) c.181A>T n.4123A>T c.3184A>T (p.Ile1062Phe) c.3178A>T (p.Ile1060Phe) | ClinVar dbSNP |
16 | g.23603605T>C | CA395138220 | PALB2 | c.3421A>G (p.Ile1141Val) c.*900A>G (n.*900A>G) c.*50A>G (n.*50A>G) c.3259A>G (p.Ile1087Val) c.2530A>G (p.Ile844Val) n.4762A>G c.2368A>G (p.Ile790Val) n.3935A>G n.2619A>G n.2110A>G c.*192A>G (n.*192A>G) c.949A>G (p.Ile317Val) c.3415A>G (p.Ile1139Val) c.181A>G n.4123A>G c.3184A>G (p.Ile1062Val) c.3178A>G (p.Ile1060Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603605T>G | CA395138221 | PALB2 | c.3421A>C (p.Ile1141Leu) c.*900A>C (n.*900A>C) c.*50A>C (n.*50A>C) c.3259A>C (p.Ile1087Leu) c.2530A>C (p.Ile844Leu) n.4762A>C c.2368A>C (p.Ile790Leu) n.3935A>C n.2619A>C n.2110A>C c.*192A>C (n.*192A>C) c.949A>C (p.Ile317Leu) c.3415A>C (p.Ile1139Leu) c.181A>C n.4123A>C c.3184A>C (p.Ile1062Leu) c.3178A>C (p.Ile1060Leu) | ClinVar dbSNP |
16 | g.23603605T= | CA2213424501 | PALB2 | c.3421A= (p.Ile1141=) c.*900A= (n.*900A=) c.*50A= (n.*50A=) c.3259A= (p.Ile1087=) c.2530A= (p.Ile844=) n.4762A= c.2368A= (p.Ile790=) n.3935A= n.2619A= n.2110A= c.*192A= (n.*192A=) c.949A= (p.Ile317=) c.3415A= (p.Ile1139=) c.181A= n.4123A= c.3184A= (p.Ile1062=) c.3178A= (p.Ile1060=) | |
16 | g.23603606G>A | CA494173683 | PALB2 | c.3420C>T (p.Ala1140=) c.*899C>T (n.*899C>T) c.*49C>T (n.*49C>T) c.3258C>T (p.Ala1086=) c.2529C>T (p.Ala843=) n.4761C>T c.2367C>T (p.Ala789=) n.3934C>T n.2618C>T n.2109C>T c.*191C>T (n.*191C>T) c.948C>T (p.Ala316=) c.3414C>T (p.Ala1138=) c.180C>T n.4122C>T c.3183C>T (p.Ala1061=) c.3177C>T (p.Ala1059=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603606G>C | CA494173684 | PALB2 | c.3420C>G (p.Ala1140=) c.*899C>G (n.*899C>G) c.*49C>G (n.*49C>G) c.3258C>G (p.Ala1086=) c.2529C>G (p.Ala843=) n.4761C>G c.2367C>G (p.Ala789=) n.3934C>G n.2618C>G n.2109C>G c.*191C>G (n.*191C>G) c.948C>G (p.Ala316=) c.3414C>G (p.Ala1138=) c.180C>G n.4122C>G c.3183C>G (p.Ala1061=) c.3177C>G (p.Ala1059=) | dbSNP |
16 | g.23603606G>T | CA494173685 | PALB2 | c.3420C>A (p.Ala1140=) c.*899C>A (n.*899C>A) c.*49C>A (n.*49C>A) c.3258C>A (p.Ala1086=) c.2529C>A (p.Ala843=) n.4761C>A c.2367C>A (p.Ala789=) n.3934C>A n.2618C>A n.2109C>A c.*191C>A (n.*191C>A) c.948C>A (p.Ala316=) c.3414C>A (p.Ala1138=) c.180C>A n.4122C>A c.3183C>A (p.Ala1061=) c.3177C>A (p.Ala1059=) | |
16 | g.23603606_23603607delinsAT | CA2697555781 | PALB2 | c.3419_3420delinsAT (p.Ala1140Asp) c.*898_*899delinsAT (n.*898_*899delinsAT) c.*48_*49delinsAT (n.*48_*49delinsAT) c.3257_3258delinsAT (p.Ala1086Asp) c.2528_2529delinsAT (p.Ala843Asp) n.4760_4761delinsAT c.2366_2367delinsAT (p.Ala789Asp) n.3933_3934delinsAT n.2617_2618delinsAT n.2108_2109delinsAT c.*190_*191delinsAT (n.*190_*191delinsAT) c.947_948delinsAT (p.Ala316Asp) c.3413_3414delinsAT (p.Ala1138Asp) c.179_180delinsAT n.4121_4122delinsAT c.3182_3183delinsAT (p.Ala1061Asp) c.3176_3177delinsAT (p.Ala1059Asp) | ClinVar |