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.23603518_23603521del | CA2573152144 | PALB2 | c.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 |
16 | g.23603519_23603523del | CA2573152145 | PALB2 | c.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 |
16 | g.23603520G>A | CA395137900 | PALB2 | c.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 |
16 | g.23603520G>C | CA395137901 | PALB2 | c.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 |
16 | g.23603520G= | CA2213424332 | PALB2 | c.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=) | |
16 | g.23603520G>T | CA395137902 | PALB2 | c.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) | |
16 | g.23603521T>A | CA395137905 | PALB2 | c.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 |
16 | g.23603521T>C | CA395137906 | PALB2 | c.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 |
16 | g.23603521T>G | CA395137907 | PALB2 | c.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 |
16 | g.23603521T= | CA2213424336 | PALB2 | c.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=) | |
16 | g.23603521_23603523delinsTAC | CA2213424335 | PALB2 | c.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=) | |
16 | g.23603522A>C | CA494173556 | PALB2 | c.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=) | |
16 | g.23603522A>G | CA494173558 | PALB2 | c.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 |
16 | g.23603522A>T | CA494173559 | PALB2 | c.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 |
16 | g.23603522_23603523del | CA294564 | PALB2 | c.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 |
16 | g.23603522_23603523delinsAC | CA2213424338 | PALB2 | c.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=) | |
16 | g.23603523C>A | CA395137910 | PALB2 | c.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 |
16 | g.23603523C>G | CA395137912 | PALB2 | c.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 |
16 | g.23603523C>T | CA395137913 | PALB2 | c.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 |
16 | g.23603525del | CA151249 | PALB2 | c.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 |
16 | g.23603524C>A | CA395137914 | PALB2 | c.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 |
16 | g.23603524C= | CA2213424341 | PALB2 | c.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=) | |
16 | g.23603524C>G | CA395137916 | PALB2 | c.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 |
16 | g.23603524C>T | CA395137918 | PALB2 | c.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 |
16 | g.23603525C>A | CA494173561 | PALB2 | c.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=) | |
16 | g.23603525C= | CA2213424344 | PALB2 | c.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=) | |
16 | g.23603525C>G | CA494173562 | PALB2 | c.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 |
16 | g.23603525C>T | CA292653 | PALB2 | c.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 |
16 | g.23603526G>A | CA7963328 | PALB2 | c.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 |
16 | g.23603526G>C | CA395137921 | PALB2 | c.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 |
16 | g.23603526G= | CA2213424346 | PALB2 | c.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=) | |
16 | g.23603526G>T | CA395137923 | PALB2 | c.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 |
16 | g.23603526dup | CA2499223398 | PALB2 | c.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 |
16 | g.23603527A= | CA2213424348 | PALB2 | c.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=) | |
16 | g.23603527A>C | CA395137926 | PALB2 | c.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 |
16 | g.23603527A>G | CA7963329 | PALB2 | c.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 |
16 | g.23603527A>T | CA395137924 | PALB2 | c.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 |
16 | g.23603528C>A | CA167348 | PALB2 | c.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 |
16 | g.23603528C= | CA2213424351 | PALB2 | c.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=) | |
16 | g.23603528C>G | CA395137929 | PALB2 | c.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 |
16 | g.23603528C>T | CA10584499 | PALB2 | c.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 |
16 | g.23603529C>A | CA395137932 | PALB2 | c.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 |
16 | g.23603529C= | CA2213424354 | PALB2 | c.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=) | |
16 | g.23603529C>G | CA395137934 | PALB2 | c.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) | |
16 | g.23603529C>T | CA10584500 | PALB2 | c.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 |
16 | g.23603530A= | CA2213424356 | PALB2 | c.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=) |