UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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.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=) | |
| 16 | g.23603626A>C | CA395138261 | PALB2 | c.3400T>G (p.Leu1134Val) c.*879T>G (n.*879T>G) c.*29T>G (n.*29T>G) c.3238T>G (p.Leu1080Val) c.2509T>G (p.Leu837Val) n.4741T>G c.2347T>G (p.Leu783Val) n.3914T>G n.2598T>G n.2089T>G c.*171T>G (n.*171T>G) c.928T>G (p.Leu310Val) c.3394T>G (p.Leu1132Val) c.160T>G n.4102T>G c.3163T>G (p.Leu1055Val) c.3157T>G (p.Leu1053Val) | |
| 16 | g.23603626A>G | CA494173743 | PALB2 | c.3400T>C (p.Leu1134=) c.*879T>C (n.*879T>C) c.*29T>C (n.*29T>C) c.3238T>C (p.Leu1080=) c.2509T>C (p.Leu837=) n.4741T>C c.2347T>C (p.Leu783=) n.3914T>C n.2598T>C n.2089T>C c.*171T>C (n.*171T>C) c.928T>C (p.Leu310=) c.3394T>C (p.Leu1132=) c.160T>C n.4102T>C c.3163T>C (p.Leu1055=) c.3157T>C (p.Leu1053=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23603626A>T | CA395138262 | PALB2 | c.3400T>A (p.Leu1134Met) c.*879T>A (n.*879T>A) c.*29T>A (n.*29T>A) c.3238T>A (p.Leu1080Met) c.2509T>A (p.Leu837Met) n.4741T>A c.2347T>A (p.Leu783Met) n.3914T>A n.2598T>A n.2089T>A c.*171T>A (n.*171T>A) c.928T>A (p.Leu310Met) c.3394T>A (p.Leu1132Met) c.160T>A n.4102T>A c.3163T>A (p.Leu1055Met) c.3157T>A (p.Leu1053Met) | dbSNP |
| 16 | g.23603627G>A | CA494173747 | PALB2 | c.3399C>T (p.Ile1133=) c.*878C>T (n.*878C>T) c.*28C>T (n.*28C>T) c.3237C>T (p.Ile1079=) c.2508C>T (p.Ile836=) n.4740C>T c.2346C>T (p.Ile782=) n.3913C>T n.2597C>T n.2088C>T c.*170C>T (n.*170C>T) c.927C>T (p.Ile309=) c.3393C>T (p.Ile1131=) c.159C>T n.4101C>T c.3162C>T (p.Ile1054=) c.3156C>T (p.Ile1052=) | dbSNP |
| 16 | g.23603627G>C | CA395138263 | PALB2 | c.3399C>G (p.Ile1133Met) c.*878C>G (n.*878C>G) c.*28C>G (n.*28C>G) c.3237C>G (p.Ile1079Met) c.2508C>G (p.Ile836Met) n.4740C>G c.2346C>G (p.Ile782Met) n.3913C>G n.2597C>G n.2088C>G c.*170C>G (n.*170C>G) c.927C>G (p.Ile309Met) c.3393C>G (p.Ile1131Met) c.159C>G n.4101C>G c.3162C>G (p.Ile1054Met) c.3156C>G (p.Ile1052Met) | dbSNP |
| 16 | g.23603627G>T | CA494173749 | PALB2 | c.3399C>A (p.Ile1133=) c.*878C>A (n.*878C>A) c.*28C>A (n.*28C>A) c.3237C>A (p.Ile1079=) c.2508C>A (p.Ile836=) n.4740C>A c.2346C>A (p.Ile782=) n.3913C>A n.2597C>A n.2088C>A c.*170C>A (n.*170C>A) c.927C>A (p.Ile309=) c.3393C>A (p.Ile1131=) c.159C>A n.4101C>A c.3162C>A (p.Ile1054=) c.3156C>A (p.Ile1052=) | |
| 16 | g.23603627_23603628delinsGA | CA2213424535 | PALB2 | c.3398_3399delinsTC (p.Ile1133=) c.*877_*878delinsTC (n.*877_*878delinsTC) c.*27_*28delinsTC (n.*27_*28delinsTC) c.3236_3237delinsTC (p.Ile1079=) c.2507_2508delinsTC (p.Ile836=) n.4739_4740delinsTC c.2345_2346delinsTC (p.Ile782=) n.3912_3913delinsTC n.2596_2597delinsTC n.2087_2088delinsTC c.*169_*170delinsTC (n.*169_*170delinsTC) c.926_927delinsTC (p.Ile309=) c.3392_3393delinsTC (p.Ile1131=) c.158_159delinsTC n.4100_4101delinsTC c.3161_3162delinsTC (p.Ile1054=) c.3155_3156delinsTC (p.Ile1052=) | |
| 16 | g.23603628del | CA913188699 | PALB2 | c.3398del (p.Ile1133ThrfsTer2) c.*877del (n.*877del) c.*27del (n.*27del) c.3236del (p.Ile1079ThrfsTer2) c.2507del (p.Ile836ThrfsTer2) n.4739del c.2345del (p.Ile782ThrfsTer2) n.3912del n.2596del n.2087del c.*169del (n.*169del) c.926del (p.Ile309ThrfsTer2) c.3392del (p.Ile1131ThrfsTer2) c.158del n.4100del c.3161del (p.Ile1054ThrfsTer2) c.3155del (p.Ile1052ThrfsTer2) | ClinVar dbSNP |
| 16 | g.23603628A= | CA2213424538 | PALB2 | c.3398T= (p.Ile1133=) c.*877T= (n.*877T=) c.*27T= (n.*27T=) c.3236T= (p.Ile1079=) c.2507T= (p.Ile836=) n.4739T= c.2345T= (p.Ile782=) n.3912T= n.2596T= n.2087T= c.*169T= (n.*169T=) c.926T= (p.Ile309=) c.3392T= (p.Ile1131=) c.158T= n.4100T= c.3161T= (p.Ile1054=) c.3155T= (p.Ile1052=) | |
| 16 | g.23603628A>C | CA395138264 | PALB2 | c.3398T>G (p.Ile1133Ser) c.*877T>G (n.*877T>G) c.*27T>G (n.*27T>G) c.3236T>G (p.Ile1079Ser) c.2507T>G (p.Ile836Ser) n.4739T>G c.2345T>G (p.Ile782Ser) n.3912T>G n.2596T>G n.2087T>G c.*169T>G (n.*169T>G) c.926T>G (p.Ile309Ser) c.3392T>G (p.Ile1131Ser) c.158T>G n.4100T>G c.3161T>G (p.Ile1054Ser) c.3155T>G (p.Ile1052Ser) | |
| 16 | g.23603628A>G | CA10579918 | PALB2 | c.3398T>C (p.Ile1133Thr) c.*877T>C (n.*877T>C) c.*27T>C (n.*27T>C) c.3236T>C (p.Ile1079Thr) c.2507T>C (p.Ile836Thr) n.4739T>C c.2345T>C (p.Ile782Thr) n.3912T>C n.2596T>C n.2087T>C c.*169T>C (n.*169T>C) c.926T>C (p.Ile309Thr) c.3392T>C (p.Ile1131Thr) c.158T>C n.4100T>C c.3161T>C (p.Ile1054Thr) c.3155T>C (p.Ile1052Thr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603628A>T | CA395138265 | PALB2 | c.3398T>A (p.Ile1133Asn) c.*877T>A (n.*877T>A) c.*27T>A (n.*27T>A) c.3236T>A (p.Ile1079Asn) c.2507T>A (p.Ile836Asn) n.4739T>A c.2345T>A (p.Ile782Asn) n.3912T>A n.2596T>A n.2087T>A c.*169T>A (n.*169T>A) c.926T>A (p.Ile309Asn) c.3392T>A (p.Ile1131Asn) c.158T>A n.4100T>A c.3161T>A (p.Ile1054Asn) c.3155T>A (p.Ile1052Asn) | dbSNP |
| 16 | g.23603628delinsCC | CA2580618129 | PALB2 | c.3398delinsGG (p.Ile1133ArgfsTer26) c.*877delinsGG (n.*877delinsGG) c.*27delinsGG (n.*27delinsGG) c.3236delinsGG (p.Ile1079ArgfsTer26) c.2507delinsGG (p.Ile836ArgfsTer26) n.4739delinsGG c.2345delinsGG (p.Ile782ArgfsTer26) n.3912delinsGG n.2596delinsGG n.2087delinsGG c.*169delinsGG (n.*169delinsGG) c.926delinsGG (p.Ile309ArgfsTer26) c.3392delinsGG (p.Ile1131ArgfsTer26) c.158delinsGG n.4100delinsGG c.3161delinsGG (p.Ile1054ArgfsTer26) c.3155delinsGG (p.Ile1052ArgfsTer26) | ClinVar |
| 16 | g.23603629T>A | CA395138266 | PALB2 | c.3397A>T (p.Ile1133Phe) c.*876A>T (n.*876A>T) c.*26A>T (n.*26A>T) c.3235A>T (p.Ile1079Phe) c.2506A>T (p.Ile836Phe) n.4738A>T c.2344A>T (p.Ile782Phe) n.3911A>T n.2595A>T n.2086A>T c.*168A>T (n.*168A>T) c.925A>T (p.Ile309Phe) c.3391A>T (p.Ile1131Phe) c.157A>T n.4099A>T c.3160A>T (p.Ile1054Phe) c.3154A>T (p.Ile1052Phe) | |
| 16 | g.23603629T>C | CA7963344 | PALB2 | c.3397A>G (p.Ile1133Val) c.*876A>G (n.*876A>G) c.*26A>G (n.*26A>G) c.3235A>G (p.Ile1079Val) c.2506A>G (p.Ile836Val) n.4738A>G c.2344A>G (p.Ile782Val) n.3911A>G n.2595A>G n.2086A>G c.*168A>G (n.*168A>G) c.925A>G (p.Ile309Val) c.3391A>G (p.Ile1131Val) c.157A>G n.4099A>G c.3160A>G (p.Ile1054Val) c.3154A>G (p.Ile1052Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23603629T>G | CA395138267 | PALB2 | c.3397A>C (p.Ile1133Leu) c.*876A>C (n.*876A>C) c.*26A>C (n.*26A>C) c.3235A>C (p.Ile1079Leu) c.2506A>C (p.Ile836Leu) n.4738A>C c.2344A>C (p.Ile782Leu) n.3911A>C n.2595A>C n.2086A>C c.*168A>C (n.*168A>C) c.925A>C (p.Ile309Leu) c.3391A>C (p.Ile1131Leu) c.157A>C n.4099A>C c.3160A>C (p.Ile1054Leu) c.3154A>C (p.Ile1052Leu) | |
| 16 | g.23603629T= | CA2213424543 | PALB2 | c.3397A= (p.Ile1133=) c.*876A= (n.*876A=) c.*26A= (n.*26A=) c.3235A= (p.Ile1079=) c.2506A= (p.Ile836=) n.4738A= c.2344A= (p.Ile782=) n.3911A= n.2595A= n.2086A= c.*168A= (n.*168A=) c.925A= (p.Ile309=) c.3391A= (p.Ile1131=) c.157A= n.4099A= c.3160A= (p.Ile1054=) c.3154A= (p.Ile1052=) |