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.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.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.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.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=) | |
| 16 | g.23603630T>A | CA494173758 | PALB2 | c.3396A>T (p.Ala1132=) c.*875A>T (n.*875A>T) c.*25A>T (n.*25A>T) c.3234A>T (p.Ala1078=) c.2505A>T (p.Ala835=) n.4737A>T c.2343A>T (p.Ala781=) n.3910A>T n.2594A>T n.2085A>T c.*167A>T (n.*167A>T) c.924A>T (p.Ala308=) c.3390A>T (p.Ala1130=) c.156A>T n.4098A>T c.3159A>T (p.Ala1053=) c.3153A>T (p.Ala1051=) | dbSNP |
| 16 | g.23603630T>C | CA494173757 | PALB2 | c.3396A>G (p.Ala1132=) c.*875A>G (n.*875A>G) c.*25A>G (n.*25A>G) c.3234A>G (p.Ala1078=) c.2505A>G (p.Ala835=) n.4737A>G c.2343A>G (p.Ala781=) n.3910A>G n.2594A>G n.2085A>G c.*167A>G (n.*167A>G) c.924A>G (p.Ala308=) c.3390A>G (p.Ala1130=) c.156A>G n.4098A>G c.3159A>G (p.Ala1053=) c.3153A>G (p.Ala1051=) | |
| 16 | g.23603630T>G | CA494173755 | PALB2 | c.3396A>C (p.Ala1132=) c.*875A>C (n.*875A>C) c.*25A>C (n.*25A>C) c.3234A>C (p.Ala1078=) c.2505A>C (p.Ala835=) n.4737A>C c.2343A>C (p.Ala781=) n.3910A>C n.2594A>C n.2085A>C c.*167A>C (n.*167A>C) c.924A>C (p.Ala308=) c.3390A>C (p.Ala1130=) c.156A>C n.4098A>C c.3159A>C (p.Ala1053=) c.3153A>C (p.Ala1051=) | |
| 16 | g.23603636_23603638dup | CA2632324130 | PALB2 | c.3394_3396dup (p.Ala1132_Ile1133insAla) c.*873_*875dup (n.*873_*875dup) c.*23_*25dup (n.*23_*25dup) c.3232_3234dup (p.Ala1078_Ile1079insAla) c.2503_2505dup (p.Ala835_Ile836insAla) n.4735_4737dup c.2341_2343dup (p.Ala781_Ile782insAla) n.3908_3910dup n.2592_2594dup n.2083_2085dup c.*165_*167dup (n.*165_*167dup) c.922_924dup (p.Ala308_Ile309insAla) c.3388_3390dup (p.Ala1130_Ile1131insAla) c.154_156dup n.4096_4098dup c.3157_3159dup (p.Ala1053_Ile1054insAla) c.3151_3153dup (p.Ala1051_Ile1052insAla) | gnomAD v4 |
| 16 | g.23603631G>A | CA395138268 | PALB2 | c.3395C>T (p.Ala1132Val) c.*874C>T (n.*874C>T) c.*24C>T (n.*24C>T) c.3233C>T (p.Ala1078Val) c.2504C>T (p.Ala835Val) n.4736C>T c.2342C>T (p.Ala781Val) n.3909C>T n.2593C>T n.2084C>T c.*166C>T (n.*166C>T) c.923C>T (p.Ala308Val) c.3389C>T (p.Ala1130Val) c.155C>T n.4097C>T c.3158C>T (p.Ala1053Val) c.3152C>T (p.Ala1051Val) | ClinVar dbSNP |
| 16 | g.23603631G>C | CA395138269 | PALB2 | c.3395C>G (p.Ala1132Gly) c.*874C>G (n.*874C>G) c.*24C>G (n.*24C>G) c.3233C>G (p.Ala1078Gly) c.2504C>G (p.Ala835Gly) n.4736C>G c.2342C>G (p.Ala781Gly) n.3909C>G n.2593C>G n.2084C>G c.*166C>G (n.*166C>G) c.923C>G (p.Ala308Gly) c.3389C>G (p.Ala1130Gly) c.155C>G n.4097C>G c.3158C>G (p.Ala1053Gly) c.3152C>G (p.Ala1051Gly) | dbSNP |
| 16 | g.23603631G>T | CA395138270 | PALB2 | c.3395C>A (p.Ala1132Glu) c.*874C>A (n.*874C>A) c.*24C>A (n.*24C>A) c.3233C>A (p.Ala1078Glu) c.2504C>A (p.Ala835Glu) n.4736C>A c.2342C>A (p.Ala781Glu) n.3909C>A n.2593C>A n.2084C>A c.*166C>A (n.*166C>A) c.923C>A (p.Ala308Glu) c.3389C>A (p.Ala1130Glu) c.155C>A n.4097C>A c.3158C>A (p.Ala1053Glu) c.3152C>A (p.Ala1051Glu) | |
| 16 | g.23603632C>A | CA395138272 | PALB2 | c.3394G>T (p.Ala1132Ser) c.*873G>T (n.*873G>T) c.*23G>T (n.*23G>T) c.3232G>T (p.Ala1078Ser) c.2503G>T (p.Ala835Ser) n.4735G>T c.2341G>T (p.Ala781Ser) n.3908G>T n.2592G>T n.2083G>T c.*165G>T (n.*165G>T) c.922G>T (p.Ala308Ser) c.3388G>T (p.Ala1130Ser) c.154G>T n.4096G>T c.3157G>T (p.Ala1053Ser) c.3151G>T (p.Ala1051Ser) | dbSNP |
| 16 | g.23603632C>G | CA395138273 | PALB2 | c.3394G>C (p.Ala1132Pro) c.*873G>C (n.*873G>C) c.*23G>C (n.*23G>C) c.3232G>C (p.Ala1078Pro) c.2503G>C (p.Ala835Pro) n.4735G>C c.2341G>C (p.Ala781Pro) n.3908G>C n.2592G>C n.2083G>C c.*165G>C (n.*165G>C) c.922G>C (p.Ala308Pro) c.3388G>C (p.Ala1130Pro) c.154G>C n.4096G>C c.3157G>C (p.Ala1053Pro) c.3151G>C (p.Ala1051Pro) | ClinVar dbSNP |
| 16 | g.23603632C>T | CA395138271 | PALB2 | c.3394G>A (p.Ala1132Thr) c.*873G>A (n.*873G>A) c.*23G>A (n.*23G>A) c.3232G>A (p.Ala1078Thr) c.2503G>A (p.Ala835Thr) n.4735G>A c.2341G>A (p.Ala781Thr) n.3908G>A n.2592G>A n.2083G>A c.*165G>A (n.*165G>A) c.922G>A (p.Ala308Thr) c.3388G>A (p.Ala1130Thr) c.154G>A n.4096G>A c.3157G>A (p.Ala1053Thr) c.3151G>A (p.Ala1051Thr) | dbSNP |
| 16 | g.23603633T>A | CA494173762 | PALB2 | c.3393A>T (p.Ala1131=) c.*872A>T (n.*872A>T) c.*22A>T (n.*22A>T) c.3231A>T (p.Ala1077=) c.2502A>T (p.Ala834=) n.4734A>T c.2340A>T (p.Ala780=) n.3907A>T n.2591A>T n.2082A>T c.*164A>T (n.*164A>T) c.921A>T (p.Ala307=) c.3387A>T (p.Ala1129=) c.153A>T n.4095A>T c.3156A>T (p.Ala1052=) c.3150A>T (p.Ala1050=) | dbSNP |
| 16 | g.23603633T>C | CA494173763 | PALB2 | c.3393A>G (p.Ala1131=) c.*872A>G (n.*872A>G) c.*22A>G (n.*22A>G) c.3231A>G (p.Ala1077=) c.2502A>G (p.Ala834=) n.4734A>G c.2340A>G (p.Ala780=) n.3907A>G n.2591A>G n.2082A>G c.*164A>G (n.*164A>G) c.921A>G (p.Ala307=) c.3387A>G (p.Ala1129=) c.153A>G n.4095A>G c.3156A>G (p.Ala1052=) c.3150A>G (p.Ala1050=) | |
| 16 | g.23603633T>G | CA494173764 | PALB2 | c.3393A>C (p.Ala1131=) c.*872A>C (n.*872A>C) c.*22A>C (n.*22A>C) c.3231A>C (p.Ala1077=) c.2502A>C (p.Ala834=) n.4734A>C c.2340A>C (p.Ala780=) n.3907A>C n.2591A>C n.2082A>C c.*164A>C (n.*164A>C) c.921A>C (p.Ala307=) c.3387A>C (p.Ala1129=) c.153A>C n.4095A>C c.3156A>C (p.Ala1052=) c.3150A>C (p.Ala1050=) | |
| 16 | g.23603633T= | CA2213424548 | PALB2 | c.3393A= (p.Ala1131=) c.*872A= (n.*872A=) c.*22A= (n.*22A=) c.3231A= (p.Ala1077=) c.2502A= (p.Ala834=) n.4734A= c.2340A= (p.Ala780=) n.3907A= n.2591A= n.2082A= c.*164A= (n.*164A=) c.921A= (p.Ala307=) c.3387A= (p.Ala1129=) c.153A= n.4095A= c.3156A= (p.Ala1052=) c.3150A= (p.Ala1050=) | |
| 16 | g.23603634G>A | CA395138274 | PALB2 | c.3392C>T (p.Ala1131Val) c.*871C>T (n.*871C>T) c.*21C>T (n.*21C>T) c.3230C>T (p.Ala1077Val) c.2501C>T (p.Ala834Val) n.4733C>T c.2339C>T (p.Ala780Val) n.3906C>T n.2590C>T n.2081C>T c.*163C>T (n.*163C>T) c.920C>T (p.Ala307Val) c.3386C>T (p.Ala1129Val) c.152C>T n.4094C>T c.3155C>T (p.Ala1052Val) c.3149C>T (p.Ala1050Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603634G>C | CA395138275 | PALB2 | c.3392C>G (p.Ala1131Gly) c.*871C>G (n.*871C>G) c.*21C>G (n.*21C>G) c.3230C>G (p.Ala1077Gly) c.2501C>G (p.Ala834Gly) n.4733C>G c.2339C>G (p.Ala780Gly) n.3906C>G n.2590C>G n.2081C>G c.*163C>G (n.*163C>G) c.920C>G (p.Ala307Gly) c.3386C>G (p.Ala1129Gly) c.152C>G n.4094C>G c.3155C>G (p.Ala1052Gly) c.3149C>G (p.Ala1050Gly) | dbSNP |
| 16 | g.23603634G= | CA2213424553 | PALB2 | c.3392C= (p.Ala1131=) c.*871C= (n.*871C=) c.*21C= (n.*21C=) c.3230C= (p.Ala1077=) c.2501C= (p.Ala834=) n.4733C= c.2339C= (p.Ala780=) n.3906C= n.2590C= n.2081C= c.*163C= (n.*163C=) c.920C= (p.Ala307=) c.3386C= (p.Ala1129=) c.152C= n.4094C= c.3155C= (p.Ala1052=) c.3149C= (p.Ala1050=) | |
| 16 | g.23603634G>T | CA395138277 | PALB2 | c.3392C>A (p.Ala1131Glu) c.*871C>A (n.*871C>A) c.*21C>A (n.*21C>A) c.3230C>A (p.Ala1077Glu) c.2501C>A (p.Ala834Glu) n.4733C>A c.2339C>A (p.Ala780Glu) n.3906C>A n.2590C>A n.2081C>A c.*163C>A (n.*163C>A) c.920C>A (p.Ala307Glu) c.3386C>A (p.Ala1129Glu) c.152C>A n.4094C>A c.3155C>A (p.Ala1052Glu) c.3149C>A (p.Ala1050Glu) | ClinVar dbSNP |
| 16 | g.23603635del | CA2573320734 | PALB2 | c.3391del (p.Ala1131GlnfsTer4) c.*870del (n.*870del) c.*20del (n.*20del) c.3229del (p.Ala1077GlnfsTer4) c.2500del (p.Ala834GlnfsTer4) n.4732del c.2338del (p.Ala780GlnfsTer4) n.3905del n.2589del n.2080del c.*162del (n.*162del) c.919del (p.Ala307GlnfsTer4) c.3385del (p.Ala1129GlnfsTer4) c.151del n.4093del c.3154del (p.Ala1052GlnfsTer4) c.3148del (p.Ala1050GlnfsTer4) | |
| 16 | g.23603635C>A | CA395138279 | PALB2 | c.3391G>T (p.Ala1131Ser) c.*870G>T (n.*870G>T) c.*20G>T (n.*20G>T) c.3229G>T (p.Ala1077Ser) c.2500G>T (p.Ala834Ser) n.4732G>T c.2338G>T (p.Ala780Ser) n.3905G>T n.2589G>T n.2080G>T c.*162G>T (n.*162G>T) c.919G>T (p.Ala307Ser) c.3385G>T (p.Ala1129Ser) c.151G>T n.4093G>T c.3154G>T (p.Ala1052Ser) c.3148G>T (p.Ala1050Ser) | ClinVar dbSNP |
| 16 | g.23603635C= | CA2213424559 | PALB2 | c.3391G= (p.Ala1131=) c.*870G= (n.*870G=) c.*20G= (n.*20G=) c.3229G= (p.Ala1077=) c.2500G= (p.Ala834=) n.4732G= c.2338G= (p.Ala780=) n.3905G= n.2589G= n.2080G= c.*162G= (n.*162G=) c.919G= (p.Ala307=) c.3385G= (p.Ala1129=) c.151G= n.4093G= c.3154G= (p.Ala1052=) c.3148G= (p.Ala1050=) | |
| 16 | g.23603635C>G | CA395138280 | PALB2 | c.3391G>C (p.Ala1131Pro) c.*870G>C (n.*870G>C) c.*20G>C (n.*20G>C) c.3229G>C (p.Ala1077Pro) c.2500G>C (p.Ala834Pro) n.4732G>C c.2338G>C (p.Ala780Pro) n.3905G>C n.2589G>C n.2080G>C c.*162G>C (n.*162G>C) c.919G>C (p.Ala307Pro) c.3385G>C (p.Ala1129Pro) c.151G>C n.4093G>C c.3154G>C (p.Ala1052Pro) c.3148G>C (p.Ala1050Pro) | ClinVar dbSNP |
| 16 | g.23603635C>T | CA395138282 | PALB2 | c.3391G>A (p.Ala1131Thr) c.*870G>A (n.*870G>A) c.*20G>A (n.*20G>A) c.3229G>A (p.Ala1077Thr) c.2500G>A (p.Ala834Thr) n.4732G>A c.2338G>A (p.Ala780Thr) n.3905G>A n.2589G>A n.2080G>A c.*162G>A (n.*162G>A) c.919G>A (p.Ala307Thr) c.3385G>A (p.Ala1129Thr) c.151G>A n.4093G>A c.3154G>A (p.Ala1052Thr) c.3148G>A (p.Ala1050Thr) | ClinVar dbSNP |
| 16 | g.23603636T>A | CA494173771 | PALB2 | c.3390A>T (p.Ala1130=) c.*869A>T (n.*869A>T) c.*19A>T (n.*19A>T) c.3228A>T (p.Ala1076=) c.2499A>T (p.Ala833=) n.4731A>T c.2337A>T (p.Ala779=) n.3904A>T n.2588A>T n.2079A>T c.*161A>T (n.*161A>T) c.918A>T (p.Ala306=) c.3384A>T (p.Ala1128=) c.150A>T n.4092A>T c.3153A>T (p.Ala1051=) c.3147A>T (p.Ala1049=) | dbSNP |
| 16 | g.23603636T>C | CA494173772 | PALB2 | c.3390A>G (p.Ala1130=) c.*869A>G (n.*869A>G) c.*19A>G (n.*19A>G) c.3228A>G (p.Ala1076=) c.2499A>G (p.Ala833=) n.4731A>G c.2337A>G (p.Ala779=) n.3904A>G n.2588A>G n.2079A>G c.*161A>G (n.*161A>G) c.918A>G (p.Ala306=) c.3384A>G (p.Ala1128=) c.150A>G n.4092A>G c.3153A>G (p.Ala1051=) c.3147A>G (p.Ala1049=) | |
| 16 | g.23603636T>G | CA494173773 | PALB2 | c.3390A>C (p.Ala1130=) c.*869A>C (n.*869A>C) c.*19A>C (n.*19A>C) c.3228A>C (p.Ala1076=) c.2499A>C (p.Ala833=) n.4731A>C c.2337A>C (p.Ala779=) n.3904A>C n.2588A>C n.2079A>C c.*161A>C (n.*161A>C) c.918A>C (p.Ala306=) c.3384A>C (p.Ala1128=) c.150A>C n.4092A>C c.3153A>C (p.Ala1051=) c.3147A>C (p.Ala1049=) | ClinVar dbSNP |
| 16 | g.23603637G>A | CA395138284 | PALB2 | c.3389C>T (p.Ala1130Val) c.*868C>T (n.*868C>T) c.*18C>T (n.*18C>T) c.3227C>T (p.Ala1076Val) c.2498C>T (p.Ala833Val) n.4730C>T c.2336C>T (p.Ala779Val) n.3903C>T n.2587C>T n.2078C>T c.*160C>T (n.*160C>T) c.917C>T (p.Ala306Val) c.3383C>T (p.Ala1128Val) c.149C>T n.4091C>T c.3152C>T (p.Ala1051Val) c.3146C>T (p.Ala1049Val) | dbSNP |
| 16 | g.23603637G>C | CA395138286 | PALB2 | c.3389C>G (p.Ala1130Gly) c.*868C>G (n.*868C>G) c.*18C>G (n.*18C>G) c.3227C>G (p.Ala1076Gly) c.2498C>G (p.Ala833Gly) n.4730C>G c.2336C>G (p.Ala779Gly) n.3903C>G n.2587C>G n.2078C>G c.*160C>G (n.*160C>G) c.917C>G (p.Ala306Gly) c.3383C>G (p.Ala1128Gly) c.149C>G n.4091C>G c.3152C>G (p.Ala1051Gly) c.3146C>G (p.Ala1049Gly) | ClinVar dbSNP |
| 16 | g.23603637G= | CA2213424565 | PALB2 | c.3389C= (p.Ala1130=) c.*868C= (n.*868C=) c.*18C= (n.*18C=) c.3227C= (p.Ala1076=) c.2498C= (p.Ala833=) n.4730C= c.2336C= (p.Ala779=) n.3903C= n.2587C= n.2078C= c.*160C= (n.*160C=) c.917C= (p.Ala306=) c.3383C= (p.Ala1128=) c.149C= n.4091C= c.3152C= (p.Ala1051=) c.3146C= (p.Ala1049=) | |
| 16 | g.23603637G>T | CA395138288 | PALB2 | c.3389C>A (p.Ala1130Glu) c.*868C>A (n.*868C>A) c.*18C>A (n.*18C>A) c.3227C>A (p.Ala1076Glu) c.2498C>A (p.Ala833Glu) n.4730C>A c.2336C>A (p.Ala779Glu) n.3903C>A n.2587C>A n.2078C>A c.*160C>A (n.*160C>A) c.917C>A (p.Ala306Glu) c.3383C>A (p.Ala1128Glu) c.149C>A n.4091C>A c.3152C>A (p.Ala1051Glu) c.3146C>A (p.Ala1049Glu) | |
| 16 | g.23603638C>A | CA395138290 | PALB2 | c.3388G>T (p.Ala1130Ser) c.*867G>T (n.*867G>T) c.*17G>T (n.*17G>T) c.3226G>T (p.Ala1076Ser) c.2497G>T (p.Ala833Ser) n.4729G>T c.2335G>T (p.Ala779Ser) n.3902G>T n.2586G>T n.2077G>T c.*159G>T (n.*159G>T) c.916G>T (p.Ala306Ser) c.3382G>T (p.Ala1128Ser) c.148G>T n.4090G>T c.3151G>T (p.Ala1051Ser) c.3145G>T (p.Ala1049Ser) | |
| 16 | g.23603638C>G | CA395138292 | PALB2 | c.3388G>C (p.Ala1130Pro) c.*867G>C (n.*867G>C) c.*17G>C (n.*17G>C) c.3226G>C (p.Ala1076Pro) c.2497G>C (p.Ala833Pro) n.4729G>C c.2335G>C (p.Ala779Pro) n.3902G>C n.2586G>C n.2077G>C c.*159G>C (n.*159G>C) c.916G>C (p.Ala306Pro) c.3382G>C (p.Ala1128Pro) c.148G>C n.4090G>C c.3151G>C (p.Ala1051Pro) c.3145G>C (p.Ala1049Pro) | dbSNP |
| 16 | g.23603638C>T | CA395138293 | PALB2 | c.3388G>A (p.Ala1130Thr) c.*867G>A (n.*867G>A) c.*17G>A (n.*17G>A) c.3226G>A (p.Ala1076Thr) c.2497G>A (p.Ala833Thr) n.4729G>A c.2335G>A (p.Ala779Thr) n.3902G>A n.2586G>A n.2077G>A c.*159G>A (n.*159G>A) c.916G>A (p.Ala306Thr) c.3382G>A (p.Ala1128Thr) c.148G>A n.4090G>A c.3151G>A (p.Ala1051Thr) c.3145G>A (p.Ala1049Thr) | dbSNP |
| 16 | g.23603639A>C | CA395138295 | PALB2 | c.3387T>G (p.Cys1129Trp) c.*866T>G (n.*866T>G) c.*16T>G (n.*16T>G) c.3225T>G (p.Cys1075Trp) c.2496T>G (p.Cys832Trp) n.4728T>G c.2334T>G (p.Cys778Trp) n.3901T>G n.2585T>G n.2076T>G c.*158T>G (n.*158T>G) c.915T>G (p.Cys305Trp) c.3381T>G (p.Cys1127Trp) c.147T>G n.4089T>G c.3150T>G (p.Cys1050Trp) c.3144T>G (p.Cys1048Trp) | ClinVar dbSNP |
| 16 | g.23603639A>G | CA494173778 | PALB2 | c.3387T>C (p.Cys1129=) c.*866T>C (n.*866T>C) c.*16T>C (n.*16T>C) c.3225T>C (p.Cys1075=) c.2496T>C (p.Cys832=) n.4728T>C c.2334T>C (p.Cys778=) n.3901T>C n.2585T>C n.2076T>C c.*158T>C (n.*158T>C) c.915T>C (p.Cys305=) c.3381T>C (p.Cys1127=) c.147T>C n.4089T>C c.3150T>C (p.Cys1050=) c.3144T>C (p.Cys1048=) | dbSNP |
| 16 | g.23603639A>T | CA395138294 | PALB2 | c.3387T>A (p.Cys1129Ter) c.*866T>A (n.*866T>A) c.*16T>A (n.*16T>A) c.3225T>A (p.Cys1075Ter) c.2496T>A (p.Cys832Ter) n.4728T>A c.2334T>A (p.Cys778Ter) n.3901T>A n.2585T>A n.2076T>A c.*158T>A (n.*158T>A) c.915T>A (p.Cys305Ter) c.3381T>A (p.Cys1127Ter) c.147T>A n.4089T>A c.3150T>A (p.Cys1050Ter) c.3144T>A (p.Cys1048Ter) | dbSNP |
| 16 | g.23603640C>A | CA395138297 | PALB2 | c.3386G>T (p.Cys1129Phe) c.*865G>T (n.*865G>T) c.*15G>T (n.*15G>T) c.3224G>T (p.Cys1075Phe) c.2495G>T (p.Cys832Phe) n.4727G>T c.2333G>T (p.Cys778Phe) n.3900G>T n.2584G>T n.2075G>T c.*157G>T (n.*157G>T) c.914G>T (p.Cys305Phe) c.3380G>T (p.Cys1127Phe) c.146G>T n.4088G>T c.3149G>T (p.Cys1050Phe) c.3143G>T (p.Cys1048Phe) | |
| 16 | g.23603640C= | CA2213424570 | PALB2 | c.3386G= (p.Cys1129=) c.*865G= (n.*865G=) c.*15G= (n.*15G=) c.3224G= (p.Cys1075=) c.2495G= (p.Cys832=) n.4727G= c.2333G= (p.Cys778=) n.3900G= n.2584G= n.2075G= c.*157G= (n.*157G=) c.914G= (p.Cys305=) c.3380G= (p.Cys1127=) c.146G= n.4088G= c.3149G= (p.Cys1050=) c.3143G= (p.Cys1048=) | |
| 16 | g.23603640C>G | CA395138299 | PALB2 | c.3386G>C (p.Cys1129Ser) c.*865G>C (n.*865G>C) c.*15G>C (n.*15G>C) c.3224G>C (p.Cys1075Ser) c.2495G>C (p.Cys832Ser) n.4727G>C c.2333G>C (p.Cys778Ser) n.3900G>C n.2584G>C n.2075G>C c.*157G>C (n.*157G>C) c.914G>C (p.Cys305Ser) c.3380G>C (p.Cys1127Ser) c.146G>C n.4088G>C c.3149G>C (p.Cys1050Ser) c.3143G>C (p.Cys1048Ser) | dbSNP |