| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23602213_23606806dup | CA645372597 | ClinVar | ||
| 16 | g.23603459_23603669del | CA2581463456 | PALB2 | c.3360_*3del (n.[c.3360_*3del;Phe1120LeufsTer3]) c.*839_*1049del (n.*839_*1049del) c.3205_*199del (n.[c.3205_*199del;Pro1069ArgfsTer4]) c.3198_*3del (n.[c.3198_*3del;Phe1066LeufsTer3]) c.2469_*3del (n.[c.2469_*3del;Phe823LeufsTer3]) n.4701_4911del c.2320_*199del (n.[c.2320_*199del;Pro774ArgfsTer4]) c.2307_*3del (n.[c.2307_*3del;Phe769LeufsTer3]) n.3874_4084del n.2558_2768del n.2049_2259del c.*131_*341del (n.*131_*341del) c.888_*3del (n.[c.888_*3del;Phe296LeufsTer3]) c.3354_*3del (n.[c.3354_*3del;Phe1118LeufsTer3]) c.120_330del c.3211_*199del (n.[c.3211_*199del;Pro1071ArgfsTer4]) n.4062_4272del c.3123_*3del (n.[c.3123_*3del;Phe1041LeufsTer3]) c.3117_*3del (n.[c.3117_*3del;Phe1039LeufsTer3]) | |
| 16 | g.23603457_23603819del | CA2499223396 | PALB2 | c.3357-150_*2del c.*836-150_*1048del c.3202-150_*198del c.3195-150_*2del c.2466-150_*2del n.4698-150_4910del c.2317-150_*198del c.2304-150_*2del n.3871-150_4083del n.2555-150_2767del n.2046-150_2258del c.*128-150_*340del c.885-150_*2del c.3351-150_*2del c.117-150_329del c.3208-150_*198del n.4059-150_4271del c.3120-150_*2del c.3114-150_*2del | ClinVar dbSNP |
| 16 | g.23603460_23608014del | CA2581463450 | PALB2 | c.3208_*1del c.*683_*1047del c.3202-4343_*197del c.3046_*1del c.2317_*1del n.4549_4909del c.2317-4343_*197del c.2155_*1del n.3722_4082del n.2406_2766del n.1897_2257del c.2229_*339del c.736_*1del c.3202_*1del c.117-4343_328del c.3208-4343_*197del n.3910_4270del c.3120-4343_*1del c.3114-4343_*1del | |
| 16 | g.23603614_23603624delinsTTCCAGAAGTC | CA2213424512 | PALB2 | c.3402_3412delinsGACTTCTGGAA (p.Leu1134=) c.*881_*891delinsGACTTCTGGAA (n.*881_*891delinsGACTTCTGGAA) c.*31_*41delinsGACTTCTGGAA (n.*31_*41delinsGACTTCTGGAA) c.3240_3250delinsGACTTCTGGAA (p.Leu1080=) c.2511_2521delinsGACTTCTGGAA (p.Leu837=) n.4743_4753delinsGACTTCTGGAA c.2349_2359delinsGACTTCTGGAA (p.Leu783=) n.3916_3926delinsGACTTCTGGAA n.2600_2610delinsGACTTCTGGAA n.2091_2101delinsGACTTCTGGAA c.*173_*183delinsGACTTCTGGAA (n.*173_*183delinsGACTTCTGGAA) c.930_940delinsGACTTCTGGAA (p.Leu310=) c.3396_3406delinsGACTTCTGGAA (p.Leu1132=) c.162_172delinsGACTTCTGGAA n.4104_4114delinsGACTTCTGGAA c.3165_3175delinsGACTTCTGGAA (p.Leu1055=) c.3159_3169delinsGACTTCTGGAA (p.Leu1053=) | |
| 16 | g.23603615T>A | CA494173712 | PALB2 | c.3411A>T (p.Gly1137=) c.*890A>T (n.*890A>T) c.*40A>T (n.*40A>T) c.3249A>T (p.Gly1083=) c.2520A>T (p.Gly840=) n.4752A>T c.2358A>T (p.Gly786=) n.3925A>T n.2609A>T n.2100A>T c.*182A>T (n.*182A>T) c.939A>T (p.Gly313=) c.3405A>T (p.Gly1135=) c.171A>T n.4113A>T c.3174A>T (p.Gly1058=) c.3168A>T (p.Gly1056=) | |
| 16 | g.23603615T>C | CA494173715 | PALB2 | c.3411A>G (p.Gly1137=) c.*890A>G (n.*890A>G) c.*40A>G (n.*40A>G) c.3249A>G (p.Gly1083=) c.2520A>G (p.Gly840=) n.4752A>G c.2358A>G (p.Gly786=) n.3925A>G n.2609A>G n.2100A>G c.*182A>G (n.*182A>G) c.939A>G (p.Gly313=) c.3405A>G (p.Gly1135=) c.171A>G n.4113A>G c.3174A>G (p.Gly1058=) c.3168A>G (p.Gly1056=) | |
| 16 | g.23603615T>G | CA494173716 | PALB2 | c.3411A>C (p.Gly1137=) c.*890A>C (n.*890A>C) c.*40A>C (n.*40A>C) c.3249A>C (p.Gly1083=) c.2520A>C (p.Gly840=) n.4752A>C c.2358A>C (p.Gly786=) n.3925A>C n.2609A>C n.2100A>C c.*182A>C (n.*182A>C) c.939A>C (p.Gly313=) c.3405A>C (p.Gly1135=) c.171A>C n.4113A>C c.3174A>C (p.Gly1058=) c.3168A>C (p.Gly1056=) | |
| 16 | g.23603615_23603624del | CA10579916 | PALB2 | c.3402_3411del (p.Thr1135GlnfsTer27) c.*881_*890del (n.*881_*890del) c.*31_*40del (n.*31_*40del) c.3240_3249del (p.Thr1081GlnfsTer27) c.2511_2520del (p.Thr838GlnfsTer27) n.4743_4752del c.2349_2358del (p.Thr784GlnfsTer27) n.3916_3925del n.2600_2609del n.2091_2100del c.*173_*182del (n.*173_*182del) c.930_939del (p.Thr311GlnfsTer27) c.3396_3405del (p.Thr1133GlnfsTer27) c.162_171del n.4104_4113del c.3165_3174del (p.Thr1056GlnfsTer27) c.3159_3168del (p.Thr1054GlnfsTer27) | ClinVar dbSNP |
| 16 | g.23603616C>A | CA395138239 | PALB2 | c.3410G>T (p.Gly1137Val) c.*889G>T (n.*889G>T) c.*39G>T (n.*39G>T) c.3248G>T (p.Gly1083Val) c.2519G>T (p.Gly840Val) n.4751G>T c.2357G>T (p.Gly786Val) n.3924G>T n.2608G>T n.2099G>T c.*181G>T (n.*181G>T) c.938G>T (p.Gly313Val) c.3404G>T (p.Gly1135Val) c.170G>T n.4112G>T c.3173G>T (p.Gly1058Val) c.3167G>T (p.Gly1056Val) | ClinVar dbSNP |
| 16 | g.23603616C= | CA2213424517 | PALB2 | c.3410G= (p.Gly1137=) c.*889G= (n.*889G=) c.*39G= (n.*39G=) c.3248G= (p.Gly1083=) c.2519G= (p.Gly840=) n.4751G= c.2357G= (p.Gly786=) n.3924G= n.2608G= n.2099G= c.*181G= (n.*181G=) c.938G= (p.Gly313=) c.3404G= (p.Gly1135=) c.170G= n.4112G= c.3173G= (p.Gly1058=) c.3167G= (p.Gly1056=) | |
| 16 | g.23603616C>G | CA395138240 | PALB2 | c.3410G>C (p.Gly1137Ala) c.*889G>C (n.*889G>C) c.*39G>C (n.*39G>C) c.3248G>C (p.Gly1083Ala) c.2519G>C (p.Gly840Ala) n.4751G>C c.2357G>C (p.Gly786Ala) n.3924G>C n.2608G>C n.2099G>C c.*181G>C (n.*181G>C) c.938G>C (p.Gly313Ala) c.3404G>C (p.Gly1135Ala) c.170G>C n.4112G>C c.3173G>C (p.Gly1058Ala) c.3167G>C (p.Gly1056Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.23603616C>T | CA299753 | PALB2 | c.3410G>A (p.Gly1137Glu) c.*889G>A (n.*889G>A) c.*39G>A (n.*39G>A) c.3248G>A (p.Gly1083Glu) c.2519G>A (p.Gly840Glu) n.4751G>A c.2357G>A (p.Gly786Glu) n.3924G>A n.2608G>A n.2099G>A c.*181G>A (n.*181G>A) c.938G>A (p.Gly313Glu) c.3404G>A (p.Gly1135Glu) c.170G>A n.4112G>A c.3173G>A (p.Gly1058Glu) c.3167G>A (p.Gly1056Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23603617C>A | CA395138242 | PALB2 | c.3409G>T (p.Gly1137Ter) c.*888G>T (n.*888G>T) c.*38G>T (n.*38G>T) c.3247G>T (p.Gly1083Ter) c.2518G>T (p.Gly840Ter) n.4750G>T c.2356G>T (p.Gly786Ter) n.3923G>T n.2607G>T n.2098G>T c.*180G>T (n.*180G>T) c.937G>T (p.Gly313Ter) c.3403G>T (p.Gly1135Ter) c.169G>T n.4111G>T c.3172G>T (p.Gly1058Ter) c.3166G>T (p.Gly1056Ter) | ClinVar dbSNP |
| 16 | g.23603617C>G | CA395138241 | PALB2 | c.3409G>C (p.Gly1137Arg) c.*888G>C (n.*888G>C) c.*38G>C (n.*38G>C) c.3247G>C (p.Gly1083Arg) c.2518G>C (p.Gly840Arg) n.4750G>C c.2356G>C (p.Gly786Arg) n.3923G>C n.2607G>C n.2098G>C c.*180G>C (n.*180G>C) c.937G>C (p.Gly313Arg) c.3403G>C (p.Gly1135Arg) c.169G>C n.4111G>C c.3172G>C (p.Gly1058Arg) c.3166G>C (p.Gly1056Arg) | dbSNP |
| 16 | g.23603617C>T | CA395138243 | PALB2 | c.3409G>A (p.Gly1137Arg) c.*888G>A (n.*888G>A) c.*38G>A (n.*38G>A) c.3247G>A (p.Gly1083Arg) c.2518G>A (p.Gly840Arg) n.4750G>A c.2356G>A (p.Gly786Arg) n.3923G>A n.2607G>A n.2098G>A c.*180G>A (n.*180G>A) c.937G>A (p.Gly313Arg) c.3403G>A (p.Gly1135Arg) c.169G>A n.4111G>A c.3172G>A (p.Gly1058Arg) c.3166G>A (p.Gly1056Arg) | ClinVar dbSNP |
| 16 | g.23603618A= | CA2213424520 | PALB2 | c.3408T= (p.Ser1136=) c.*887T= (n.*887T=) c.*37T= (n.*37T=) c.3246T= (p.Ser1082=) c.2517T= (p.Ser839=) n.4749T= c.2355T= (p.Ser785=) n.3922T= n.2606T= n.2097T= c.*179T= (n.*179T=) c.936T= (p.Ser312=) c.3402T= (p.Ser1134=) c.168T= n.4110T= c.3171T= (p.Ser1057=) c.3165T= (p.Ser1055=) | |
| 16 | g.23603618A>C | CA494173725 | PALB2 | c.3408T>G (p.Ser1136=) c.*887T>G (n.*887T>G) c.*37T>G (n.*37T>G) c.3246T>G (p.Ser1082=) c.2517T>G (p.Ser839=) n.4749T>G c.2355T>G (p.Ser785=) n.3922T>G n.2606T>G n.2097T>G c.*179T>G (n.*179T>G) c.936T>G (p.Ser312=) c.3402T>G (p.Ser1134=) c.168T>G n.4110T>G c.3171T>G (p.Ser1057=) c.3165T>G (p.Ser1055=) | |
| 16 | g.23603618A>G | CA494173723 | PALB2 | c.3408T>C (p.Ser1136=) c.*887T>C (n.*887T>C) c.*37T>C (n.*37T>C) c.3246T>C (p.Ser1082=) c.2517T>C (p.Ser839=) n.4749T>C c.2355T>C (p.Ser785=) n.3922T>C n.2606T>C n.2097T>C c.*179T>C (n.*179T>C) c.936T>C (p.Ser312=) c.3402T>C (p.Ser1134=) c.168T>C n.4110T>C c.3171T>C (p.Ser1057=) c.3165T>C (p.Ser1055=) | ClinVar |
| 16 | g.23603618A>T | CA494173722 | PALB2 | c.3408T>A (p.Ser1136=) c.*887T>A (n.*887T>A) c.*37T>A (n.*37T>A) c.3246T>A (p.Ser1082=) c.2517T>A (p.Ser839=) n.4749T>A c.2355T>A (p.Ser785=) n.3922T>A n.2606T>A n.2097T>A c.*179T>A (n.*179T>A) c.936T>A (p.Ser312=) c.3402T>A (p.Ser1134=) c.168T>A n.4110T>A c.3171T>A (p.Ser1057=) c.3165T>A (p.Ser1055=) | ClinVar dbSNP |
| 16 | g.23603621_23603628dup | CA2695197571 | PALB2 | c.3401_3408dup (p.Gly1137Ter) c.*880_*887dup (n.*880_*887dup) c.*30_*37dup (n.*30_*37dup) c.3239_3246dup (p.Gly1083Ter) c.2510_2517dup (p.Gly840Ter) n.4742_4749dup c.2348_2355dup (p.Gly786Ter) n.3915_3922dup n.2599_2606dup n.2090_2097dup c.*172_*179dup (n.*172_*179dup) c.929_936dup (p.Gly313Ter) c.3395_3402dup (p.Gly1135Ter) c.161_168dup n.4103_4110dup c.3164_3171dup (p.Gly1058Ter) c.3158_3165dup (p.Gly1056Ter) | ClinVar |
| 16 | g.23603619G>A | CA395138244 | PALB2 | c.3407C>T (p.Ser1136Phe) c.*886C>T (n.*886C>T) c.*36C>T (n.*36C>T) c.3245C>T (p.Ser1082Phe) c.2516C>T (p.Ser839Phe) n.4748C>T c.2354C>T (p.Ser785Phe) n.3921C>T n.2605C>T n.2096C>T c.*178C>T (n.*178C>T) c.935C>T (p.Ser312Phe) c.3401C>T (p.Ser1134Phe) c.167C>T n.4109C>T c.3170C>T (p.Ser1057Phe) c.3164C>T (p.Ser1055Phe) | dbSNP |
| 16 | g.23603619G>C | CA395138246 | PALB2 | c.3407C>G (p.Ser1136Cys) c.*886C>G (n.*886C>G) c.*36C>G (n.*36C>G) c.3245C>G (p.Ser1082Cys) c.2516C>G (p.Ser839Cys) n.4748C>G c.2354C>G (p.Ser785Cys) n.3921C>G n.2605C>G n.2096C>G c.*178C>G (n.*178C>G) c.935C>G (p.Ser312Cys) c.3401C>G (p.Ser1134Cys) c.167C>G n.4109C>G c.3170C>G (p.Ser1057Cys) c.3164C>G (p.Ser1055Cys) | ClinVar dbSNP |
| 16 | g.23603619G>T | CA395138245 | PALB2 | c.3407C>A (p.Ser1136Tyr) c.*886C>A (n.*886C>A) c.*36C>A (n.*36C>A) c.3245C>A (p.Ser1082Tyr) c.2516C>A (p.Ser839Tyr) n.4748C>A c.2354C>A (p.Ser785Tyr) n.3921C>A n.2605C>A n.2096C>A c.*178C>A (n.*178C>A) c.935C>A (p.Ser312Tyr) c.3401C>A (p.Ser1134Tyr) c.167C>A n.4109C>A c.3170C>A (p.Ser1057Tyr) c.3164C>A (p.Ser1055Tyr) | ClinVar |
| 16 | g.23603620A>C | CA395138247 | PALB2 | c.3406T>G (p.Ser1136Ala) c.*885T>G (n.*885T>G) c.*35T>G (n.*35T>G) c.3244T>G (p.Ser1082Ala) c.2515T>G (p.Ser839Ala) n.4747T>G c.2353T>G (p.Ser785Ala) n.3920T>G n.2604T>G n.2095T>G c.*177T>G (n.*177T>G) c.934T>G (p.Ser312Ala) c.3400T>G (p.Ser1134Ala) c.166T>G n.4108T>G c.3169T>G (p.Ser1057Ala) c.3163T>G (p.Ser1055Ala) | |
| 16 | g.23603620A>G | CA395138249 | PALB2 | c.3406T>C (p.Ser1136Pro) c.*885T>C (n.*885T>C) c.*35T>C (n.*35T>C) c.3244T>C (p.Ser1082Pro) c.2515T>C (p.Ser839Pro) n.4747T>C c.2353T>C (p.Ser785Pro) n.3920T>C n.2604T>C n.2095T>C c.*177T>C (n.*177T>C) c.934T>C (p.Ser312Pro) c.3400T>C (p.Ser1134Pro) c.166T>C n.4108T>C c.3169T>C (p.Ser1057Pro) c.3163T>C (p.Ser1055Pro) | |
| 16 | g.23603620A>T | CA395138248 | PALB2 | c.3406T>A (p.Ser1136Thr) c.*885T>A (n.*885T>A) c.*35T>A (n.*35T>A) c.3244T>A (p.Ser1082Thr) c.2515T>A (p.Ser839Thr) n.4747T>A c.2353T>A (p.Ser785Thr) n.3920T>A n.2604T>A n.2095T>A c.*177T>A (n.*177T>A) c.934T>A (p.Ser312Thr) c.3400T>A (p.Ser1134Thr) c.166T>A n.4108T>A c.3169T>A (p.Ser1057Thr) c.3163T>A (p.Ser1055Thr) | dbSNP |
| 16 | g.23603621A= | CA2213424522 | PALB2 | c.3405T= (p.Thr1135=) c.*884T= (n.*884T=) c.*34T= (n.*34T=) c.3243T= (p.Thr1081=) c.2514T= (p.Thr838=) n.4746T= c.2352T= (p.Thr784=) n.3919T= n.2603T= n.2094T= c.*176T= (n.*176T=) c.933T= (p.Thr311=) c.3399T= (p.Thr1133=) c.165T= n.4107T= c.3168T= (p.Thr1056=) c.3162T= (p.Thr1054=) | |
| 16 | g.23603621A>C | CA494173731 | PALB2 | c.3405T>G (p.Thr1135=) c.*884T>G (n.*884T>G) c.*34T>G (n.*34T>G) c.3243T>G (p.Thr1081=) c.2514T>G (p.Thr838=) n.4746T>G c.2352T>G (p.Thr784=) n.3919T>G n.2603T>G n.2094T>G c.*176T>G (n.*176T>G) c.933T>G (p.Thr311=) c.3399T>G (p.Thr1133=) c.165T>G n.4107T>G c.3168T>G (p.Thr1056=) c.3162T>G (p.Thr1054=) | |
| 16 | g.23603621A>G | CA494173732 | PALB2 | c.3405T>C (p.Thr1135=) c.*884T>C (n.*884T>C) c.*34T>C (n.*34T>C) c.3243T>C (p.Thr1081=) c.2514T>C (p.Thr838=) n.4746T>C c.2352T>C (p.Thr784=) n.3919T>C n.2603T>C n.2094T>C c.*176T>C (n.*176T>C) c.933T>C (p.Thr311=) c.3399T>C (p.Thr1133=) c.165T>C n.4107T>C c.3168T>C (p.Thr1056=) c.3162T>C (p.Thr1054=) | ClinVar dbSNP |
| 16 | g.23603621A>T | CA494173733 | PALB2 | c.3405T>A (p.Thr1135=) c.*884T>A (n.*884T>A) c.*34T>A (n.*34T>A) c.3243T>A (p.Thr1081=) c.2514T>A (p.Thr838=) n.4746T>A c.2352T>A (p.Thr784=) n.3919T>A n.2603T>A n.2094T>A c.*176T>A (n.*176T>A) c.933T>A (p.Thr311=) c.3399T>A (p.Thr1133=) c.165T>A n.4107T>A c.3168T>A (p.Thr1056=) c.3162T>A (p.Thr1054=) | |
| 16 | g.23603621_23603634dup | CA2697555782 | PALB2 | c.3392_3405dup (p.Ser1136GlnfsTer4) c.*871_*884dup (n.*871_*884dup) c.*21_*34dup (n.*21_*34dup) c.3230_3243dup (p.Ser1082GlnfsTer4) c.2501_2514dup (p.Ser839GlnfsTer4) n.4733_4746dup c.2339_2352dup (p.Ser785GlnfsTer4) n.3906_3919dup n.2590_2603dup n.2081_2094dup c.*163_*176dup (n.*163_*176dup) c.920_933dup (p.Ser312GlnfsTer4) c.3386_3399dup (p.Ser1134GlnfsTer4) c.152_165dup n.4094_4107dup c.3155_3168dup (p.Ser1057GlnfsTer4) c.3149_3162dup (p.Ser1055GlnfsTer4) | ClinVar |
| 16 | g.23603622G>A | CA395138250 | PALB2 | c.3404C>T (p.Thr1135Ile) c.*883C>T (n.*883C>T) c.*33C>T (n.*33C>T) c.3242C>T (p.Thr1081Ile) c.2513C>T (p.Thr838Ile) n.4745C>T c.2351C>T (p.Thr784Ile) n.3918C>T n.2602C>T n.2093C>T c.*175C>T (n.*175C>T) c.932C>T (p.Thr311Ile) c.3398C>T (p.Thr1133Ile) c.164C>T n.4106C>T c.3167C>T (p.Thr1056Ile) c.3161C>T (p.Thr1054Ile) | |
| 16 | g.23603622G>C | CA395138251 | PALB2 | c.3404C>G (p.Thr1135Ser) c.*883C>G (n.*883C>G) c.*33C>G (n.*33C>G) c.3242C>G (p.Thr1081Ser) c.2513C>G (p.Thr838Ser) n.4745C>G c.2351C>G (p.Thr784Ser) n.3918C>G n.2602C>G n.2093C>G c.*175C>G (n.*175C>G) c.932C>G (p.Thr311Ser) c.3398C>G (p.Thr1133Ser) c.164C>G n.4106C>G c.3167C>G (p.Thr1056Ser) c.3161C>G (p.Thr1054Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.23603622G= | CA2213424524 | PALB2 | c.3404C= (p.Thr1135=) c.*883C= (n.*883C=) c.*33C= (n.*33C=) c.3242C= (p.Thr1081=) c.2513C= (p.Thr838=) n.4745C= c.2351C= (p.Thr784=) n.3918C= n.2602C= n.2093C= c.*175C= (n.*175C=) c.932C= (p.Thr311=) c.3398C= (p.Thr1133=) c.164C= n.4106C= c.3167C= (p.Thr1056=) c.3161C= (p.Thr1054=) | |
| 16 | g.23603622G>T | CA395138252 | PALB2 | c.3404C>A (p.Thr1135Asn) c.*883C>A (n.*883C>A) c.*33C>A (n.*33C>A) c.3242C>A (p.Thr1081Asn) c.2513C>A (p.Thr838Asn) n.4745C>A c.2351C>A (p.Thr784Asn) n.3918C>A n.2602C>A n.2093C>A c.*175C>A (n.*175C>A) c.932C>A (p.Thr311Asn) c.3398C>A (p.Thr1133Asn) c.164C>A n.4106C>A c.3167C>A (p.Thr1056Asn) c.3161C>A (p.Thr1054Asn) | |
| 16 | g.23603623T>A | CA395138253 | PALB2 | c.3403A>T (p.Thr1135Ser) c.*882A>T (n.*882A>T) c.*32A>T (n.*32A>T) c.3241A>T (p.Thr1081Ser) c.2512A>T (p.Thr838Ser) n.4744A>T c.2350A>T (p.Thr784Ser) n.3917A>T n.2601A>T n.2092A>T c.*174A>T (n.*174A>T) c.931A>T (p.Thr311Ser) c.3397A>T (p.Thr1133Ser) c.163A>T n.4105A>T c.3166A>T (p.Thr1056Ser) c.3160A>T (p.Thr1054Ser) | ClinVar dbSNP |
| 16 | g.23603623T>C | CA395138254 | PALB2 | c.3403A>G (p.Thr1135Ala) c.*882A>G (n.*882A>G) c.*32A>G (n.*32A>G) c.3241A>G (p.Thr1081Ala) c.2512A>G (p.Thr838Ala) n.4744A>G c.2350A>G (p.Thr784Ala) n.3917A>G n.2601A>G n.2092A>G c.*174A>G (n.*174A>G) c.931A>G (p.Thr311Ala) c.3397A>G (p.Thr1133Ala) c.163A>G n.4105A>G c.3166A>G (p.Thr1056Ala) c.3160A>G (p.Thr1054Ala) | ClinVar dbSNP |
| 16 | g.23603623T>G | CA395138255 | PALB2 | c.3403A>C (p.Thr1135Pro) c.*882A>C (n.*882A>C) c.*32A>C (n.*32A>C) c.3241A>C (p.Thr1081Pro) c.2512A>C (p.Thr838Pro) n.4744A>C c.2350A>C (p.Thr784Pro) n.3917A>C n.2601A>C n.2092A>C c.*174A>C (n.*174A>C) c.931A>C (p.Thr311Pro) c.3397A>C (p.Thr1133Pro) c.163A>C n.4105A>C c.3166A>C (p.Thr1056Pro) c.3160A>C (p.Thr1054Pro) | dbSNP |
| 16 | g.23603624C>A | CA395138256 | PALB2 | c.3402G>T (p.Leu1134Phe) c.*881G>T (n.*881G>T) c.*31G>T (n.*31G>T) c.3240G>T (p.Leu1080Phe) c.2511G>T (p.Leu837Phe) n.4743G>T c.2349G>T (p.Leu783Phe) n.3916G>T n.2600G>T n.2091G>T c.*173G>T (n.*173G>T) c.930G>T (p.Leu310Phe) c.3396G>T (p.Leu1132Phe) c.162G>T n.4104G>T c.3165G>T (p.Leu1055Phe) c.3159G>T (p.Leu1053Phe) | dbSNP |
| 16 | g.23603624C>G | CA395138257 | PALB2 | c.3402G>C (p.Leu1134Phe) c.*881G>C (n.*881G>C) c.*31G>C (n.*31G>C) c.3240G>C (p.Leu1080Phe) c.2511G>C (p.Leu837Phe) n.4743G>C c.2349G>C (p.Leu783Phe) n.3916G>C n.2600G>C n.2091G>C c.*173G>C (n.*173G>C) c.930G>C (p.Leu310Phe) c.3396G>C (p.Leu1132Phe) c.162G>C n.4104G>C c.3165G>C (p.Leu1055Phe) c.3159G>C (p.Leu1053Phe) | dbSNP |
| 16 | g.23603624C>T | CA494173739 | PALB2 | c.3402G>A (p.Leu1134=) c.*881G>A (n.*881G>A) c.*31G>A (n.*31G>A) c.3240G>A (p.Leu1080=) c.2511G>A (p.Leu837=) n.4743G>A c.2349G>A (p.Leu783=) n.3916G>A n.2600G>A n.2091G>A c.*173G>A (n.*173G>A) c.930G>A (p.Leu310=) c.3396G>A (p.Leu1132=) c.162G>A n.4104G>A c.3165G>A (p.Leu1055=) c.3159G>A (p.Leu1053=) | dbSNP gnomAD v4 |
| 16 | g.23603624_23603646delinsCAAGATTGCTGCTGCACAGTGAT | CA2213424525 | PALB2 | c.3380_3402delinsATCACTGTGCAGCAGCAATCTTG (p.Asp1127=) c.*859_*881delinsATCACTGTGCAGCAGCAATCTTG (n.*859_*881delinsATCACTGTGCAGCAGCAATCTTG) c.*9_*31delinsATCACTGTGCAGCAGCAATCTTG (n.*9_*31delinsATCACTGTGCAGCAGCAATCTTG) c.3218_3240delinsATCACTGTGCAGCAGCAATCTTG (p.Asp1073=) c.2489_2511delinsATCACTGTGCAGCAGCAATCTTG (p.Asp830=) n.4721_4743delinsATCACTGTGCAGCAGCAATCTTG c.2327_2349delinsATCACTGTGCAGCAGCAATCTTG (p.Asp776=) n.3894_3916delinsATCACTGTGCAGCAGCAATCTTG n.2578_2600delinsATCACTGTGCAGCAGCAATCTTG n.2069_2091delinsATCACTGTGCAGCAGCAATCTTG c.*151_*173delinsATCACTGTGCAGCAGCAATCTTG (n.*151_*173delinsATCACTGTGCAGCAGCAATCTTG) c.908_930delinsATCACTGTGCAGCAGCAATCTTG (p.Asp303=) c.3374_3396delinsATCACTGTGCAGCAGCAATCTTG (p.Asp1125=) c.140_162delinsATCACTGTGCAGCAGCAATCTTG n.4082_4104delinsATCACTGTGCAGCAGCAATCTTG c.3143_3165delinsATCACTGTGCAGCAGCAATCTTG (p.Asp1048=) c.3137_3159delinsATCACTGTGCAGCAGCAATCTTG (p.Asp1046=) | |
| 16 | g.23603625A= | CA2213424529 | PALB2 | c.3401T= (p.Leu1134=) c.*880T= (n.*880T=) c.*30T= (n.*30T=) c.3239T= (p.Leu1080=) c.2510T= (p.Leu837=) n.4742T= c.2348T= (p.Leu783=) n.3915T= n.2599T= n.2090T= c.*172T= (n.*172T=) c.929T= (p.Leu310=) c.3395T= (p.Leu1132=) c.161T= n.4103T= c.3164T= (p.Leu1055=) c.3158T= (p.Leu1053=) | |
| 16 | g.23603625A>C | CA395138258 | PALB2 | c.3401T>G (p.Leu1134Trp) c.*880T>G (n.*880T>G) c.*30T>G (n.*30T>G) c.3239T>G (p.Leu1080Trp) c.2510T>G (p.Leu837Trp) n.4742T>G c.2348T>G (p.Leu783Trp) n.3915T>G n.2599T>G n.2090T>G c.*172T>G (n.*172T>G) c.929T>G (p.Leu310Trp) c.3395T>G (p.Leu1132Trp) c.161T>G n.4103T>G c.3164T>G (p.Leu1055Trp) c.3158T>G (p.Leu1053Trp) | |
| 16 | g.23603625A>G | CA395138259 | PALB2 | c.3401T>C (p.Leu1134Ser) c.*880T>C (n.*880T>C) c.*30T>C (n.*30T>C) c.3239T>C (p.Leu1080Ser) c.2510T>C (p.Leu837Ser) n.4742T>C c.2348T>C (p.Leu783Ser) n.3915T>C n.2599T>C n.2090T>C c.*172T>C (n.*172T>C) c.929T>C (p.Leu310Ser) c.3395T>C (p.Leu1132Ser) c.161T>C n.4103T>C c.3164T>C (p.Leu1055Ser) c.3158T>C (p.Leu1053Ser) | ClinVar dbSNP |
| 16 | g.23603625A>T | CA395138260 | PALB2 | c.3401T>A (p.Leu1134Ter) c.*880T>A (n.*880T>A) c.*30T>A (n.*30T>A) c.3239T>A (p.Leu1080Ter) c.2510T>A (p.Leu837Ter) n.4742T>A c.2348T>A (p.Leu783Ter) n.3915T>A n.2599T>A n.2090T>A c.*172T>A (n.*172T>A) c.929T>A (p.Leu310Ter) c.3395T>A (p.Leu1132Ter) c.161T>A n.4103T>A c.3164T>A (p.Leu1055Ter) c.3158T>A (p.Leu1053Ter) | ClinVar dbSNP |
| 16 | g.23603625_23603626del | CA2695197572 | PALB2 | c.3400_3401del (p.Leu1134AspfsTer24) c.*879_*880del (n.*879_*880del) c.*29_*30del (n.*29_*30del) c.3238_3239del (p.Leu1080AspfsTer24) c.2509_2510del (p.Leu837AspfsTer24) n.4741_4742del c.2347_2348del (p.Leu783AspfsTer24) n.3914_3915del n.2598_2599del n.2089_2090del c.*171_*172del (n.*171_*172del) c.928_929del (p.Leu310AspfsTer24) c.3394_3395del (p.Leu1132AspfsTer24) c.160_161del n.4102_4103del c.3163_3164del (p.Leu1055AspfsTer24) c.3157_3158del (p.Leu1053AspfsTer24) | ClinVar |
| 16 | g.23603625_23603646del | CA10579917 | PALB2 | c.3380_3401del (p.Asp1127GlyfsTer?) c.*859_*880del (n.*859_*880del) c.*9_*30del (n.*9_*30del) c.3218_3239del (p.Asp1073GlyfsTer?) c.2489_2510del (p.Asp830GlyfsTer?) n.4721_4742del c.2327_2348del (p.Asp776GlyfsTer?) n.3894_3915del n.2578_2599del n.2069_2090del c.*151_*172del (n.*151_*172del) c.908_929del (p.Asp303GlyfsTer?) c.3374_3395del (p.Asp1125GlyfsTer?) c.140_161del n.4082_4103del c.3143_3164del (p.Asp1048GlyfsTer?) c.3137_3158del (p.Asp1046GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603626A= | CA2213424534 | PALB2 | c.3400T= (p.Leu1134=) c.*879T= (n.*879T=) c.*29T= (n.*29T=) c.3238T= (p.Leu1080=) c.2509T= (p.Leu837=) n.4741T= c.2347T= (p.Leu783=) n.3914T= n.2598T= n.2089T= c.*171T= (n.*171T=) c.928T= (p.Leu310=) c.3394T= (p.Leu1132=) c.160T= n.4102T= c.3163T= (p.Leu1055=) c.3157T= (p.Leu1053=) |