WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.23603505A= | CA2213424314 | PALB2 | c.3521T= (p.Leu1174=) c.*1000T= (n.*1000T=) c.*150T= (n.*150T=) c.3359T= (p.Leu1120=) c.2630T= (p.Leu877=) n.4862T= c.2468T= (p.Leu823=) n.4035T= n.2719T= n.2210T= c.*292T= (n.*292T=) c.1049T= (p.Leu350=) c.3515T= (p.Leu1172=) c.281T= n.4223T= c.3284T= (p.Leu1095=) c.3278T= (p.Leu1093=) | |
| 16 | g.23603505A>C | CA395137854 | PALB2 | c.3521T>G (p.Leu1174Arg) c.*1000T>G (n.*1000T>G) c.*150T>G (n.*150T>G) c.3359T>G (p.Leu1120Arg) c.2630T>G (p.Leu877Arg) n.4862T>G c.2468T>G (p.Leu823Arg) n.4035T>G n.2719T>G n.2210T>G c.*292T>G (n.*292T>G) c.1049T>G (p.Leu350Arg) c.3515T>G (p.Leu1172Arg) c.281T>G n.4223T>G c.3284T>G (p.Leu1095Arg) c.3278T>G (p.Leu1093Arg) | ClinVar dbSNP |
| 16 | g.23603505A>G | CA395137855 | PALB2 | c.3521T>C (p.Leu1174Pro) c.*1000T>C (n.*1000T>C) c.*150T>C (n.*150T>C) c.3359T>C (p.Leu1120Pro) c.2630T>C (p.Leu877Pro) n.4862T>C c.2468T>C (p.Leu823Pro) n.4035T>C n.2719T>C n.2210T>C c.*292T>C (n.*292T>C) c.1049T>C (p.Leu350Pro) c.3515T>C (p.Leu1172Pro) c.281T>C n.4223T>C c.3284T>C (p.Leu1095Pro) c.3278T>C (p.Leu1093Pro) | ClinVar dbSNP |
| 16 | g.23603505A>T | CA395137856 | PALB2 | c.3521T>A (p.Leu1174Gln) c.*1000T>A (n.*1000T>A) c.*150T>A (n.*150T>A) c.3359T>A (p.Leu1120Gln) c.2630T>A (p.Leu877Gln) n.4862T>A c.2468T>A (p.Leu823Gln) n.4035T>A n.2719T>A n.2210T>A c.*292T>A (n.*292T>A) c.1049T>A (p.Leu350Gln) c.3515T>A (p.Leu1172Gln) c.281T>A n.4223T>A c.3284T>A (p.Leu1095Gln) c.3278T>A (p.Leu1093Gln) | |
| 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=) |