Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.23602213_23606806dupCA645372597 ClinVar
16g.23603459_23603669delCA2581463456PALB2c.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])
16g.23603457_23603819delCA2499223396PALB2c.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
16g.23603460_23608014delCA2581463450PALB2c.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
16g.23603500C>ACA395137844PALB2c.3526G>T (p.Gly1176Ter)
c.*1005G>T (n.*1005G>T)
c.*155G>T (n.*155G>T)
c.3364G>T (p.Gly1122Ter)
c.2635G>T (p.Gly879Ter)
n.4867G>T
c.2473G>T (p.Gly825Ter)
n.4040G>T
n.2724G>T
n.2215G>T
c.*297G>T (n.*297G>T)
c.1054G>T (p.Gly352Ter)
c.3520G>T (p.Gly1174Ter)
c.286G>T
n.4228G>T
c.3289G>T (p.Gly1097Ter)
c.3283G>T (p.Gly1095Ter)
16g.23603500C=CA2213424306PALB2c.3526G= (p.Gly1176=)
c.*1005G= (n.*1005G=)
c.*155G= (n.*155G=)
c.3364G= (p.Gly1122=)
c.2635G= (p.Gly879=)
n.4867G=
c.2473G= (p.Gly825=)
n.4040G=
n.2724G=
n.2215G=
c.*297G= (n.*297G=)
c.1054G= (p.Gly352=)
c.3520G= (p.Gly1174=)
c.286G=
n.4228G=
c.3289G= (p.Gly1097=)
c.3283G= (p.Gly1095=)
16g.23603500C>GCA395137846PALB2c.3526G>C (p.Gly1176Arg)
c.*1005G>C (n.*1005G>C)
c.*155G>C (n.*155G>C)
c.3364G>C (p.Gly1122Arg)
c.2635G>C (p.Gly879Arg)
n.4867G>C
c.2473G>C (p.Gly825Arg)
n.4040G>C
n.2724G>C
n.2215G>C
c.*297G>C (n.*297G>C)
c.1054G>C (p.Gly352Arg)
c.3520G>C (p.Gly1174Arg)
c.286G>C
n.4228G>C
c.3289G>C (p.Gly1097Arg)
c.3283G>C (p.Gly1095Arg)
dbSNP
16g.23603500C>TCA196291PALB2c.3526G>A (p.Gly1176Arg)
c.*1005G>A (n.*1005G>A)
c.*155G>A (n.*155G>A)
c.3364G>A (p.Gly1122Arg)
c.2635G>A (p.Gly879Arg)
n.4867G>A
c.2473G>A (p.Gly825Arg)
n.4040G>A
n.2724G>A
n.2215G>A
c.*297G>A (n.*297G>A)
c.1054G>A (p.Gly352Arg)
c.3520G>A (p.Gly1174Arg)
c.286G>A
n.4228G>A
c.3289G>A (p.Gly1097Arg)
c.3283G>A (p.Gly1095Arg)
ClinVar dbSNP gnomAD v2
16g.23603501A>CCA494173524PALB2c.3525T>G (p.Ala1175=)
c.*1004T>G (n.*1004T>G)
c.*154T>G (n.*154T>G)
c.3363T>G (p.Ala1121=)
c.2634T>G (p.Ala878=)
n.4866T>G
c.2472T>G (p.Ala824=)
n.4039T>G
n.2723T>G
n.2214T>G
c.*296T>G (n.*296T>G)
c.1053T>G (p.Ala351=)
c.3519T>G (p.Ala1173=)
c.285T>G
n.4227T>G
c.3288T>G (p.Ala1096=)
c.3282T>G (p.Ala1094=)
16g.23603501A>GCA494173526PALB2c.3525T>C (p.Ala1175=)
c.*1004T>C (n.*1004T>C)
c.*154T>C (n.*154T>C)
c.3363T>C (p.Ala1121=)
c.2634T>C (p.Ala878=)
n.4866T>C
c.2472T>C (p.Ala824=)
n.4039T>C
n.2723T>C
n.2214T>C
c.*296T>C (n.*296T>C)
c.1053T>C (p.Ala351=)
c.3519T>C (p.Ala1173=)
c.285T>C
n.4227T>C
c.3288T>C (p.Ala1096=)
c.3282T>C (p.Ala1094=)
dbSNP
16g.23603501A>TCA494173525PALB2c.3525T>A (p.Ala1175=)
c.*1004T>A (n.*1004T>A)
c.*154T>A (n.*154T>A)
c.3363T>A (p.Ala1121=)
c.2634T>A (p.Ala878=)
n.4866T>A
c.2472T>A (p.Ala824=)
n.4039T>A
n.2723T>A
n.2214T>A
c.*296T>A (n.*296T>A)
c.1053T>A (p.Ala351=)
c.3519T>A (p.Ala1173=)
c.285T>A
n.4227T>A
c.3288T>A (p.Ala1096=)
c.3282T>A (p.Ala1094=)
dbSNP
16g.23603502G>ACA279524893PALB2c.3524C>T (p.Ala1175Val)
c.*1003C>T (n.*1003C>T)
c.*153C>T (n.*153C>T)
c.3362C>T (p.Ala1121Val)
c.2633C>T (p.Ala878Val)
n.4865C>T
c.2471C>T (p.Ala824Val)
n.4038C>T
n.2722C>T
n.2213C>T
c.*295C>T (n.*295C>T)
c.1052C>T (p.Ala351Val)
c.3518C>T (p.Ala1173Val)
c.284C>T
n.4226C>T
c.3287C>T (p.Ala1096Val)
c.3281C>T (p.Ala1094Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.23603502G>CCA395137849PALB2c.3524C>G (p.Ala1175Gly)
c.*1003C>G (n.*1003C>G)
c.*153C>G (n.*153C>G)
c.3362C>G (p.Ala1121Gly)
c.2633C>G (p.Ala878Gly)
n.4865C>G
c.2471C>G (p.Ala824Gly)
n.4038C>G
n.2722C>G
n.2213C>G
c.*295C>G (n.*295C>G)
c.1052C>G (p.Ala351Gly)
c.3518C>G (p.Ala1173Gly)
c.284C>G
n.4226C>G
c.3287C>G (p.Ala1096Gly)
c.3281C>G (p.Ala1094Gly)
ClinVar dbSNP
16g.23603502G=CA2213424309PALB2c.3524C= (p.Ala1175=)
c.*1003C= (n.*1003C=)
c.*153C= (n.*153C=)
c.3362C= (p.Ala1121=)
c.2633C= (p.Ala878=)
n.4865C=
c.2471C= (p.Ala824=)
n.4038C=
n.2722C=
n.2213C=
c.*295C= (n.*295C=)
c.1052C= (p.Ala351=)
c.3518C= (p.Ala1173=)
c.284C=
n.4226C=
c.3287C= (p.Ala1096=)
c.3281C= (p.Ala1094=)
16g.23603502G>TCA395137850PALB2c.3524C>A (p.Ala1175Asp)
c.*1003C>A (n.*1003C>A)
c.*153C>A (n.*153C>A)
c.3362C>A (p.Ala1121Asp)
c.2633C>A (p.Ala878Asp)
n.4865C>A
c.2471C>A (p.Ala824Asp)
n.4038C>A
n.2722C>A
n.2213C>A
c.*295C>A (n.*295C>A)
c.1052C>A (p.Ala351Asp)
c.3518C>A (p.Ala1173Asp)
c.284C>A
n.4226C>A
c.3287C>A (p.Ala1096Asp)
c.3281C>A (p.Ala1094Asp)
ClinVar dbSNP
16g.23603503C>ACA395137851PALB2c.3523G>T (p.Ala1175Ser)
c.*1002G>T (n.*1002G>T)
c.*152G>T (n.*152G>T)
c.3361G>T (p.Ala1121Ser)
c.2632G>T (p.Ala878Ser)
n.4864G>T
c.2470G>T (p.Ala824Ser)
n.4037G>T
n.2721G>T
n.2212G>T
c.*294G>T (n.*294G>T)
c.1051G>T (p.Ala351Ser)
c.3517G>T (p.Ala1173Ser)
c.283G>T
n.4225G>T
c.3286G>T (p.Ala1096Ser)
c.3280G>T (p.Ala1094Ser)
ClinVar dbSNP gnomAD v4 COSMIC
16g.23603503C=CA2213424312PALB2c.3523G= (p.Ala1175=)
c.*1002G= (n.*1002G=)
c.*152G= (n.*152G=)
c.3361G= (p.Ala1121=)
c.2632G= (p.Ala878=)
n.4864G=
c.2470G= (p.Ala824=)
n.4037G=
n.2721G=
n.2212G=
c.*294G= (n.*294G=)
c.1051G= (p.Ala351=)
c.3517G= (p.Ala1173=)
c.283G=
n.4225G=
c.3286G= (p.Ala1096=)
c.3280G= (p.Ala1094=)
16g.23603503C>GCA395137852PALB2c.3523G>C (p.Ala1175Pro)
c.*1002G>C (n.*1002G>C)
c.*152G>C (n.*152G>C)
c.3361G>C (p.Ala1121Pro)
c.2632G>C (p.Ala878Pro)
n.4864G>C
c.2470G>C (p.Ala824Pro)
n.4037G>C
n.2721G>C
n.2212G>C
c.*294G>C (n.*294G>C)
c.1051G>C (p.Ala351Pro)
c.3517G>C (p.Ala1173Pro)
c.283G>C
n.4225G>C
c.3286G>C (p.Ala1096Pro)
c.3280G>C (p.Ala1094Pro)
dbSNP
16g.23603503C>TCA395137853PALB2c.3523G>A (p.Ala1175Thr)
c.*1002G>A (n.*1002G>A)
c.*152G>A (n.*152G>A)
c.3361G>A (p.Ala1121Thr)
c.2632G>A (p.Ala878Thr)
n.4864G>A
c.2470G>A (p.Ala824Thr)
n.4037G>A
n.2721G>A
n.2212G>A
c.*294G>A (n.*294G>A)
c.1051G>A (p.Ala351Thr)
c.3517G>A (p.Ala1173Thr)
c.283G>A
n.4225G>A
c.3286G>A (p.Ala1096Thr)
c.3280G>A (p.Ala1094Thr)
ClinVar dbSNP
16g.23603504C>ACA494173528PALB2c.3522G>T (p.Leu1174=)
c.*1001G>T (n.*1001G>T)
c.*151G>T (n.*151G>T)
c.3360G>T (p.Leu1120=)
c.2631G>T (p.Leu877=)
n.4863G>T
c.2469G>T (p.Leu823=)
n.4036G>T
n.2720G>T
n.2211G>T
c.*293G>T (n.*293G>T)
c.1050G>T (p.Leu350=)
c.3516G>T (p.Leu1172=)
c.282G>T
n.4224G>T
c.3285G>T (p.Leu1095=)
c.3279G>T (p.Leu1093=)
dbSNP gnomAD v4
16g.23603504C>GCA494173529PALB2c.3522G>C (p.Leu1174=)
c.*1001G>C (n.*1001G>C)
c.*151G>C (n.*151G>C)
c.3360G>C (p.Leu1120=)
c.2631G>C (p.Leu877=)
n.4863G>C
c.2469G>C (p.Leu823=)
n.4036G>C
n.2720G>C
n.2211G>C
c.*293G>C (n.*293G>C)
c.1050G>C (p.Leu350=)
c.3516G>C (p.Leu1172=)
c.282G>C
n.4224G>C
c.3285G>C (p.Leu1095=)
c.3279G>C (p.Leu1093=)
dbSNP
16g.23603504C>TCA494173530PALB2c.3522G>A (p.Leu1174=)
c.*1001G>A (n.*1001G>A)
c.*151G>A (n.*151G>A)
c.3360G>A (p.Leu1120=)
c.2631G>A (p.Leu877=)
n.4863G>A
c.2469G>A (p.Leu823=)
n.4036G>A
n.2720G>A
n.2211G>A
c.*293G>A (n.*293G>A)
c.1050G>A (p.Leu350=)
c.3516G>A (p.Leu1172=)
c.282G>A
n.4224G>A
c.3285G>A (p.Leu1095=)
c.3279G>A (p.Leu1093=)
dbSNP
16g.23603505A=CA2213424314PALB2c.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=)
16g.23603505A>CCA395137854PALB2c.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
16g.23603505A>GCA395137855PALB2c.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
16g.23603505A>TCA395137856PALB2c.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)
16g.23603506G>ACA494173534PALB2c.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
16g.23603506G>CCA395137857PALB2c.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
16g.23603506G=CA2213424316PALB2c.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=)
16g.23603506G>TCA395137858PALB2c.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
16g.23603507C>ACA395137859PALB2c.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)
16g.23603507C=CA2213424318PALB2c.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=)
16g.23603507C>GCA395137860PALB2c.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
16g.23603507C>TCA494173536PALB2c.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
16g.23603508A>CCA395137861PALB2c.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)
16g.23603508A>GCA395137862PALB2c.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
16g.23603508A>TCA395137863PALB2c.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
16g.23603510delCA915941064PALB2c.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
16g.23603509A>CCA395137864PALB2c.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)
16g.23603509A>GCA494173540PALB2c.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=)
16g.23603509A>TCA395137865PALB2c.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
16g.23603510A=CA2213424321PALB2c.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=)
16g.23603510A>CCA395137866PALB2c.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)
16g.23603510A>GCA494173541PALB2c.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
16g.23603510A>TCA395137867PALB2c.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
16g.23603511T>ACA395137868PALB2c.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
16g.23603511T>CCA395137869PALB2c.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
16g.23603511T>GCA395137870PALB2c.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
16g.23603511_23603513delinsTGACA2213424322PALB2c.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=)
16g.23603512G>ACA294118PALB2c.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
16g.23603512G>CCA395137873PALB2c.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
16g.23603512G=CA2213424324PALB2c.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=)
16g.23603512G>TCA16614807PALB2c.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
16g.23603515_23603516delCA164092PALB2c.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
16g.23603513A=CA2213424326PALB2c.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=)
16g.23603513A>CCA494173544PALB2c.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=)
16g.23603513A>GCA7963327PALB2c.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
16g.23603513A>TCA494173547PALB2c.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
16g.23603514G>ACA395137879PALB2c.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
16g.23603514G>CCA395137878PALB2c.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
16g.23603514G=CA2213424328PALB2c.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=)
16g.23603514G>TCA395137881PALB2c.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)
16g.23603515A>CCA395137883PALB2c.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)
16g.23603515A>GCA395137886PALB2c.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)
16g.23603515A>TCA395137885PALB2c.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
16g.23603516G>ACA494173549PALB2c.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
16g.23603516G>CCA395137887PALB2c.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
16g.23603516G=CA2213424329PALB2c.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=)
16g.23603516G>TCA395137888PALB2c.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
16g.23603518_23603521delCA2573152144PALB2c.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
16g.23603517T>ACA395137890PALB2c.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
16g.23603517T>CCA395137891PALB2c.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
16g.23603517T>GCA395137893PALB2c.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)
16g.23603518C>ACA395137895PALB2c.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
16g.23603518C>GCA395137896PALB2c.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
16g.23603518C>TCA395137897PALB2c.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
16g.23603519_23603523delCA2573152145PALB2c.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
16g.23603519T>ACA494173552PALB2c.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=)
16g.23603519T>CCA494173553PALB2c.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
16g.23603519T>GCA494173554PALB2c.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=)
16g.23603520G>ACA395137900PALB2c.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
16g.23603520G>CCA395137901PALB2c.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
16g.23603520G=CA2213424332PALB2c.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=)
16g.23603520G>TCA395137902PALB2c.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)
16g.23603521T>ACA395137905PALB2c.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
16g.23603521T>CCA395137906PALB2c.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
16g.23603521T>GCA395137907PALB2c.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
16g.23603521T=CA2213424336PALB2c.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=)
16g.23603521_23603523delinsTACCA2213424335PALB2c.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=)
16g.23603522A>CCA494173556PALB2c.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=)
16g.23603522A>GCA494173558PALB2c.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
16g.23603522A>TCA494173559PALB2c.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
16g.23603522_23603523delCA294564PALB2c.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
16g.23603522_23603523delinsACCA2213424338PALB2c.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=)
16g.23603523C>ACA395137910PALB2c.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
16g.23603523C>GCA395137912PALB2c.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
16g.23603523C>TCA395137913PALB2c.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
16g.23603525delCA151249PALB2c.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
16g.23603524C>ACA395137914PALB2c.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
16g.23603524C=CA2213424341PALB2c.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=)
16g.23603524C>GCA395137916PALB2c.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
16g.23603524C>TCA395137918PALB2c.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
16g.23603525C>ACA494173561PALB2c.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=)
16g.23603525C=CA2213424344PALB2c.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=)
16g.23603525C>GCA494173562PALB2c.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
16g.23603525C>TCA292653PALB2c.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
16g.23603526G>ACA7963328PALB2c.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
16g.23603526G>CCA395137921PALB2c.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
16g.23603526G=CA2213424346PALB2c.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=)
16g.23603526G>TCA395137923PALB2c.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
16g.23603526dupCA2499223398PALB2c.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
16g.23603527A=CA2213424348PALB2c.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=)
16g.23603527A>CCA395137926PALB2c.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
16g.23603527A>GCA7963329PALB2c.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
16g.23603527A>TCA395137924PALB2c.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
16g.23603528C>ACA167348PALB2c.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
16g.23603528C=CA2213424351PALB2c.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=)
16g.23603528C>GCA395137929PALB2c.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
16g.23603528C>TCA10584499PALB2c.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
16g.23603529C>ACA395137932PALB2c.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
16g.23603529C=CA2213424354PALB2c.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=)
16g.23603529C>GCA395137934PALB2c.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)
16g.23603529C>TCA10584500PALB2c.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
16g.23603530A=CA2213424356PALB2c.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=)
16g.23603530A>CCA395137937PALB2c.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)
16g.23603530A>GCA7963330PALB2c.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
16g.23603530A>TCA395137939PALB2c.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
16g.23603531T>ACA395137941PALB2c.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)
16g.23603531T>CCA494173567PALB2c.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=)
16g.23603531T>GCA395137943PALB2c.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)
16g.23603532T>ACA10579911PALB2c.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
16g.23603532T>CCA395137947PALB2c.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
16g.23603532T>GCA395137945PALB2c.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)
16g.23603532T=CA2213424359PALB2c.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=)
16g.23603533T>ACA395137950PALB2c.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
16g.23603533T>CCA279524941PALB2c.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
16g.23603533T>GCA395137953PALB2c.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)
16g.23603533T=CA2213424361PALB2c.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=)
16g.23603534C>ACA494173571PALB2c.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
16g.23603534C=CA2213424364PALB2c.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=)
16g.23603534C>GCA494173572PALB2c.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
16g.23603534C>TCA494173573PALB2c.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
16g.23603535A=CA2213424366PALB2c.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=)
16g.23603535A>CCA395137955PALB2c.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)
16g.23603535A>GCA395137957PALB2c.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
16g.23603535A>TCA395137959PALB2c.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)
16g.23603536C>ACA395137961PALB2c.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)
16g.23603536C=CA2213424368PALB2c.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=)
16g.23603536C>GCA395137963PALB2c.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
16g.23603536C>TCA16615211PALB2c.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
16g.23603537A=CA2213424370PALB2c.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=)
16g.23603537A>CCA395137965PALB2c.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)
16g.23603537A>GCA187303PALB2c.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
16g.23603537A>TCA395137968PALB2c.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
16g.23603540delCA2499223399PALB2c.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
16g.23603538A>CCA395137970PALB2c.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)
16g.23603538A>GCA395137971PALB2c.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)
16g.23603538A>TCA395137969PALB2c.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
16g.23603539A>CCA395137977PALB2c.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
16g.23603539A>GCA395137973PALB2c.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)
16g.23603539A>TCA395137975PALB2c.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)
16g.23603540A>CCA494173577PALB2c.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=)
16g.23603540A>GCA494173578PALB2c.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=)
16g.23603540A>TCA494173579PALB2c.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
16g.23603541G>ACA395137978PALB2c.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
16g.23603541G>CCA395137980PALB2c.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
16g.23603541G>TCA395137982PALB2c.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)
16g.23603542A>CCA395137983PALB2c.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
16g.23603542A>GCA395137985PALB2c.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)
16g.23603542A>TCA395137987PALB2c.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
16g.23603543C>ACA395137989PALB2c.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
16g.23603543C=CA2213424372PALB2c.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=)
16g.23603543C>GCA395137991PALB2c.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
16g.23603543C>TCA395137993PALB2c.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
16g.23603544C>ACA279524947PALB2c.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
16g.23603544C=CA2213424376PALB2c.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=)
16g.23603544C>GCA395137998PALB2c.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
16g.23603544C>TCA166575PALB2c.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
16g.23603544_23603547dupCA10579912PALB2c.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
16g.23603545A=CA2213424380PALB2c.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=)
16g.23603545A>CCA395138001PALB2c.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
16g.23603545A>GCA10579913PALB2c.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
16g.23603545A>TCA395138004PALB2c.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
16g.23603546delCA2573152149PALB2c.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
16g.23603546A=CA2213424382PALB2c.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=)
16g.23603546A>CCA395138006PALB2c.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
16g.23603546A>GCA7963331PALB2c.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
16g.23603546A>TCA299759PALB2c.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
16g.23603547T>ACA395138010PALB2c.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
16g.23603547T>CCA338566PALB2c.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
16g.23603547T>GCA395138012PALB2c.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)
16g.23603547T=CA2213424385PALB2c.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=)
16g.23603548G>ACA395138015PALB2c.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
16g.23603548G>CCA395138016PALB2c.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
16g.23603548G>TCA395138018PALB2c.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)
16g.23603549T>ACA10579914PALB2c.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
16g.23603549T>CCA494173585PALB2c.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
16g.23603549T>GCA395138021PALB2c.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
16g.23603549T=CA2213424388PALB2c.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=)
16g.23603550T>ACA395138023PALB2c.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)
16g.23603550T>CCA395138025PALB2c.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
16g.23603550T>GCA395138026PALB2c.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
16g.23603550T=CA2213424391PALB2c.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=)
16g.23603551G>ACA395138028PALB2c.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
16g.23603551G>CCA395138029PALB2c.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
16g.23603551G=CA2213424393PALB2c.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=)
16g.23603551G>TCA395138031PALB2c.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
16g.23603552G>ACA494173590PALB2c.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
16g.23603552G>CCA395138034PALB2c.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
16g.23603552G>TCA395138033PALB2c.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)
16g.23603553T>ACA395138036PALB2c.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
16g.23603553T>CCA395138038PALB2c.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
16g.23603553T>GCA395138040PALB2c.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)
16g.23603554C>ACA395138042PALB2c.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)
16g.23603554C>GCA395138044PALB2c.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
16g.23603554C>TCA395138046PALB2c.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
16g.23603555A=CA2213424396PALB2c.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=)
16g.23603555A>CCA494173594PALB2c.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=)
16g.23603555A>GCA494173596PALB2c.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
16g.23603555A>TCA494173597PALB2c.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
16g.23603558_23603559delCA2580613442PALB2c.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
16g.23603556G>ACA395138048PALB2c.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
16g.23603556G>CCA7963332PALB2c.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
16g.23603556G=CA2213424398PALB2c.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=)
16g.23603556G>TCA395138050PALB2c.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)
16g.23603557A=CA2213424400PALB2c.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=)
16g.23603557A>CCA395138052PALB2c.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)
16g.23603557A>GCA395138054PALB2c.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
16g.23603557A>TCA395138056PALB2c.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
16g.23603558G>ACA494173600PALB2c.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=)
16g.23603558G>CCA494173601PALB2c.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
16g.23603558G=CA2213424402PALB2c.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=)
16g.23603558G>TCA494173602PALB2c.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=)
16g.23603559A=CA2213424404PALB2c.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=)
16g.23603559A>CCA395138058PALB2c.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)
16g.23603559A>GCA395138060PALB2c.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
16g.23603559A>TCA395138061PALB2c.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
16g.23603560C>ACA395138064PALB2c.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)
16g.23603560C=CA2213424405PALB2c.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=)
16g.23603560C>GCA395138065PALB2c.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
16g.23603560C>TCA395138067PALB2c.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
16g.23603561A>CCA494173603PALB2c.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=)
16g.23603561A>GCA494173604PALB2c.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
16g.23603561A>TCA494173605PALB2c.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
16g.23603564_23603570delCA2580091248PALB2c.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
16g.23603562G>ACA395138069PALB2c.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
16g.23603562G>CCA395138071PALB2c.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
16g.23603562G=CA2213424408PALB2c.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=)
16g.23603562G>TCA395138072PALB2c.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
16g.23603563G>ACA395138077PALB2c.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
16g.23603563G>CCA395138078PALB2c.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
16g.23603563G=CA2213424410PALB2c.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=)
16g.23603563G>TCA395138075PALB2c.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)
16g.23603564T>ACA494173608PALB2c.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
16g.23603564T>CCA494173610PALB2c.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
16g.23603564T>GCA494173612PALB2c.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=)
16g.23603564dupCA288484PALB2c.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
16g.23603564_23603565delinsTGCA2213424413PALB2c.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=)
16g.23603565G>ACA395138082PALB2c.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
16g.23603565G>CCA395138083PALB2c.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)
16g.23603565G=CA2213424416PALB2c.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=)
16g.23603565G>TCA395138086PALB2c.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)
16g.23603567delCA915949155PALB2c.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
16g.23603565_23603568delinsGGGACA2213424418PALB2c.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=)
16g.23603566G>ACA395138088PALB2c.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
16g.23603566G>CCA395138090PALB2c.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
16g.23603566G>TCA395138091PALB2c.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
16g.23603566_23603568delinsAGCA2695197574PALB2c.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
16g.23603571_23603573delCA915949156PALB2c.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
16g.23603567G>ACA494173614PALB2c.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
16g.23603567G>CCA7963333PALB2c.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
16g.23603567G=CA2213424421PALB2c.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=)
16g.23603567G>TCA494173615PALB2c.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=)
16g.23603568A=CA2213424424PALB2c.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=)
16g.23603568A>CCA395138094PALB2c.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)
16g.23603568A>GCA7963334PALB2c.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
16g.23603568A>TCA299756PALB2c.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
16g.23603569G>ACA196709PALB2c.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
16g.23603569G>CCA395138098PALB2c.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
16g.23603569G=CA2213424426PALB2c.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=)
16g.23603569G>TCA395138099PALB2c.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)
16g.23603570G>ACA494173617PALB2c.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
16g.23603570G>CCA494173618PALB2c.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
16g.23603570G>TCA494173619PALB2c.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
16g.23603570_23603572delinsAACA2580091249PALB2c.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
16g.23603571A=CA2213424428PALB2c.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=)
16g.23603571A>CCA166841PALB2c.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
16g.23603571A>GCA395138103PALB2c.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
16g.23603571A>TCA395138101PALB2c.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
16g.23603572G>ACA337664PALB2c.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
16g.23603572G>CCA395138106PALB2c.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
16g.23603572G=CA2213424430PALB2c.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=)
16g.23603572G>TCA395138107PALB2c.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
16g.23603573G>ACA494173623PALB2c.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
16g.23603573G>CCA494173625PALB2c.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
16g.23603573G=CA2213424433PALB2c.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=)
16g.23603573G>TCA494173624PALB2c.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=)
16g.23603574G>ACA395138109PALB2c.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
16g.23603574G>CCA395138111PALB2c.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
16g.23603574G>TCA395138113PALB2c.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
16g.23603575_23603576insTGTACTGCCA2573054197PALB2c.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
16g.23603575C>ACA395138115PALB2c.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
16g.23603575C>GCA395138117PALB2c.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
16g.23603575C>TCA395138119PALB2c.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
16g.23603576A=CA2213424435PALB2c.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=)
16g.23603576A>CCA494173627PALB2c.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
16g.23603576A>GCA7963335PALB2c.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
16g.23603576A>TCA7963336PALB2c.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
16g.23603577G>ACA395138123PALB2c.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
16g.23603577G>CCA395138125PALB2c.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
16g.23603577G>TCA395138126PALB2c.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)
16g.23603578T>ACA395138131PALB2c.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
16g.23603578T>CCA395138132PALB2c.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
16g.23603578T>GCA395138129PALB2c.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
16g.23603579A=CA2213424437PALB2c.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=)
16g.23603579A>CCA395138134PALB2c.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)
16g.23603579A>GCA494173635PALB2c.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=)
16g.23603579A>TCA395138136PALB2c.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
16g.23603580C>ACA395138138PALB2c.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)
16g.23603580C>GCA395138140PALB2c.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
16g.23603580C>TCA395138142PALB2c.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
16g.23603581A=CA2213424440PALB2c.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=)
16g.23603581A>CCA395138144PALB2c.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
16g.23603581A>GCA395138146PALB2c.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
16g.23603581A>TCA395138148PALB2c.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
16g.23603582C>ACA7963337PALB2c.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
16g.23603582C=CA2213424442PALB2c.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=)
16g.23603582C>GCA395138150PALB2c.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
16g.23603582C>TCA494173642PALB2c.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
16g.23603583T>ACA395138152PALB2c.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
16g.23603583T>CCA288481PALB2c.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
16g.23603583T>GCA395138154PALB2c.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)
16g.23603583T=CA2213424444PALB2c.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=)
16g.23603584G>ACA395138158PALB2c.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
16g.23603584G>CCA10584501PALB2c.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
16g.23603584G=CA2213424448PALB2c.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=)
16g.23603584G>TCA10584502PALB2c.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
16g.23603586_23603589delCA2695197575PALB2c.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
16g.23603585A>CCA494173647PALB2c.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=)
16g.23603585A>GCA494173648PALB2c.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
16g.23603585A>TCA494173649PALB2c.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
16g.23603586C>ACA395138160PALB2c.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
16g.23603586C=CA2213424451PALB2c.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=)
16g.23603586C>GCA395138162PALB2c.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
16g.23603586C>TCA395138163PALB2c.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
16g.23603587C>ACA7963338PALB2c.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
16g.23603587C=CA2213424455PALB2c.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=)
16g.23603587C>GCA269622PALB2c.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
16g.23603587C>TCA193870PALB2c.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
16g.23603587_23603588insTCTCCA2580610735PALB2c.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)
16g.23603587_23603588delinsATCA658658452PALB2c.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
16g.23603587_23603588delinsCGCA2213424456PALB2c.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=)
16g.23603588delCA2697555780PALB2c.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
16g.23603588G>ACA7963339PALB2c.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
16g.23603588G>CCA7963340PALB2c.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
16g.23603588G=CA2213424461PALB2c.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=)
16g.23603588G>TCA494173655PALB2c.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
16g.23603589A=CA2213424465PALB2c.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=)
16g.23603589A>CCA395138169PALB2c.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)
16g.23603589A>GCA395138170PALB2c.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
16g.23603589A>TCA395138171PALB2c.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
16g.23603590G>ACA395138176PALB2c.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
16g.23603590G>CCA395138175PALB2c.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
16g.23603590G=CA2213424467PALB2c.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=)
16g.23603590G>TCA395138173PALB2c.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
16g.23603590_23603594delinsGAAGTCA2213424468PALB2c.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=)
16g.23603591A>CCA494173660PALB2c.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=)
16g.23603591A>GCA494173662PALB2c.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=)
16g.23603591A>TCA494173663PALB2c.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=)
16g.23603595_23603598delCA192987PALB2c.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
16g.23603592A=CA2213424471PALB2c.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=)
16g.23603592A>CCA395138181PALB2c.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)
16g.23603592A>GCA269619PALB2c.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
16g.23603592A>TCA288478PALB2c.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
16g.23603592_23603593delinsAGCA2213424473PALB2c.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=)
16g.23603593delCA7963341PALB2c.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
16g.23603593G>ACA7963342PALB2c.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
16g.23603593G>CCA395138183PALB2c.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
16g.23603593G=CA2213424476PALB2c.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=)
16g.23603593G>TCA395138185PALB2c.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
16g.23603594T>ACA395138189PALB2c.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
16g.23603594T>CCA494173668PALB2c.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=)
16g.23603594T>GCA395138191PALB2c.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)
16g.23603594dupCA294563PALB2c.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
16g.23603594_23603595delinsTACA2213424479PALB2c.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=)
16g.23603595A=CA2213424483PALB2c.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=)
16g.23603595A>CCA395138193PALB2c.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
16g.23603595A>GCA395138195PALB2c.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
16g.23603595A>TCA395138197PALB2c.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
16g.23603596delCA16042144PALB2c.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
16g.23603596A=CA2213424486PALB2c.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=)
16g.23603596A>CCA395138199PALB2c.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)
16g.23603596A>GCA494173669PALB2c.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
16g.23603596A>TCA395138201PALB2c.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
16g.23603597G>ACA494173672PALB2c.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
16g.23603597G>CCA395138202PALB2c.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
16g.23603597G>TCA395138204PALB2c.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)
16g.23603598T>ACA395138205PALB2c.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
16g.23603598T>CCA395138206PALB2c.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
16g.23603598T>GCA395138207PALB2c.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)
16g.23603599C>ACA395138208PALB2c.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
16g.23603599C=CA2213424488PALB2c.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=)
16g.23603599C>GCA395138209PALB2c.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
16g.23603599C>TCA16620112PALB2c.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
16g.23603600C>ACA395138210PALB2c.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
16g.23603600C=CA2213424491PALB2c.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=)
16g.23603600C>GCA395138211PALB2c.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
16g.23603600C>TCA10583349PALB2c.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

Number of alleles fetched