| 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.23603515_23603516del | CA164092 | PALB2 | c.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 |
| 16 | g.23603515A>C | CA395137883 | PALB2 | c.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) | |
| 16 | g.23603515A>G | CA395137886 | PALB2 | c.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) | |
| 16 | g.23603515A>T | CA395137885 | PALB2 | c.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 |
| 16 | g.23603516G>A | CA494173549 | PALB2 | c.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 |
| 16 | g.23603516G>C | CA395137887 | PALB2 | c.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 |
| 16 | g.23603516G= | CA2213424329 | PALB2 | c.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=) | |
| 16 | g.23603516G>T | CA395137888 | PALB2 | c.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 |
| 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.23603517T>A | CA395137890 | PALB2 | c.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 |
| 16 | g.23603517T>C | CA395137891 | PALB2 | c.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 |
| 16 | g.23603517T>G | CA395137893 | PALB2 | c.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) | |
| 16 | g.23603518C>A | CA395137895 | PALB2 | c.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 |
| 16 | g.23603518C>G | CA395137896 | PALB2 | c.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 |
| 16 | g.23603518C>T | CA395137897 | PALB2 | c.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 |
| 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.23603519T>A | CA494173552 | PALB2 | c.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=) | |
| 16 | g.23603519T>C | CA494173553 | PALB2 | c.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 |
| 16 | g.23603519T>G | CA494173554 | PALB2 | c.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=) | |
| 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 |