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.23603558_23603559del | CA2580613442 | PALB2 | c.3470_3471del (p.Ser1157Ter) c.*949_*950del (n.*949_*950del) c.*99_*100del (n.*99_*100del) c.3308_3309del (p.Ser1103Ter) c.2579_2580del (p.Ser860Ter) n.4811_4812del c.2417_2418del (p.Ser806Ter) n.3984_3985del n.2668_2669del n.2159_2160del c.*241_*242del (n.*241_*242del) c.998_999del (p.Ser333Ter) c.3464_3465del (p.Ser1155Ter) c.230_231del n.4172_4173del c.3233_3234del (p.Ser1078Ter) c.3227_3228del (p.Ser1076Ter) | ClinVar dbSNP |
16 | g.23603557A= | CA2213424400 | PALB2 | c.3469T= (p.Ser1157=) c.*948T= (n.*948T=) c.*98T= (n.*98T=) c.3307T= (p.Ser1103=) c.2578T= (p.Ser860=) n.4810T= c.2416T= (p.Ser806=) n.3983T= n.2667T= n.2158T= c.*240T= (n.*240T=) c.997T= (p.Ser333=) c.3463T= (p.Ser1155=) c.229T= n.4171T= c.3232T= (p.Ser1078=) c.3226T= (p.Ser1076=) | |
16 | g.23603557A>C | CA395138052 | PALB2 | c.3469T>G (p.Ser1157Ala) c.*948T>G (n.*948T>G) c.*98T>G (n.*98T>G) c.3307T>G (p.Ser1103Ala) c.2578T>G (p.Ser860Ala) n.4810T>G c.2416T>G (p.Ser806Ala) n.3983T>G n.2667T>G n.2158T>G c.*240T>G (n.*240T>G) c.997T>G (p.Ser333Ala) c.3463T>G (p.Ser1155Ala) c.229T>G n.4171T>G c.3232T>G (p.Ser1078Ala) c.3226T>G (p.Ser1076Ala) | |
16 | g.23603557A>G | CA395138054 | PALB2 | c.3469T>C (p.Ser1157Pro) c.*948T>C (n.*948T>C) c.*98T>C (n.*98T>C) c.3307T>C (p.Ser1103Pro) c.2578T>C (p.Ser860Pro) n.4810T>C c.2416T>C (p.Ser806Pro) n.3983T>C n.2667T>C n.2158T>C c.*240T>C (n.*240T>C) c.997T>C (p.Ser333Pro) c.3463T>C (p.Ser1155Pro) c.229T>C n.4171T>C c.3232T>C (p.Ser1078Pro) c.3226T>C (p.Ser1076Pro) | ClinVar dbSNP |
16 | g.23603557A>T | CA395138056 | PALB2 | c.3469T>A (p.Ser1157Thr) c.*948T>A (n.*948T>A) c.*98T>A (n.*98T>A) c.3307T>A (p.Ser1103Thr) c.2578T>A (p.Ser860Thr) n.4810T>A c.2416T>A (p.Ser806Thr) n.3983T>A n.2667T>A n.2158T>A c.*240T>A (n.*240T>A) c.997T>A (p.Ser333Thr) c.3463T>A (p.Ser1155Thr) c.229T>A n.4171T>A c.3232T>A (p.Ser1078Thr) c.3226T>A (p.Ser1076Thr) | ClinVar dbSNP |
16 | g.23603558G>A | CA494173600 | PALB2 | c.3468C>T (p.Val1156=) c.*947C>T (n.*947C>T) c.*97C>T (n.*97C>T) c.3306C>T (p.Val1102=) c.2577C>T (p.Val859=) n.4809C>T c.2415C>T (p.Val805=) n.3982C>T n.2666C>T n.2157C>T c.*239C>T (n.*239C>T) c.996C>T (p.Val332=) c.3462C>T (p.Val1154=) c.228C>T n.4170C>T c.3231C>T (p.Val1077=) c.3225C>T (p.Val1075=) | |
16 | g.23603558G>C | CA494173601 | PALB2 | c.3468C>G (p.Val1156=) c.*947C>G (n.*947C>G) c.*97C>G (n.*97C>G) c.3306C>G (p.Val1102=) c.2577C>G (p.Val859=) n.4809C>G c.2415C>G (p.Val805=) n.3982C>G n.2666C>G n.2157C>G c.*239C>G (n.*239C>G) c.996C>G (p.Val332=) c.3462C>G (p.Val1154=) c.228C>G n.4170C>G c.3231C>G (p.Val1077=) c.3225C>G (p.Val1075=) | dbSNP |
16 | g.23603558G= | CA2213424402 | PALB2 | c.3468C= (p.Val1156=) c.*947C= (n.*947C=) c.*97C= (n.*97C=) c.3306C= (p.Val1102=) c.2577C= (p.Val859=) n.4809C= c.2415C= (p.Val805=) n.3982C= n.2666C= n.2157C= c.*239C= (n.*239C=) c.996C= (p.Val332=) c.3462C= (p.Val1154=) c.228C= n.4170C= c.3231C= (p.Val1077=) c.3225C= (p.Val1075=) | |
16 | g.23603558G>T | CA494173602 | PALB2 | c.3468C>A (p.Val1156=) c.*947C>A (n.*947C>A) c.*97C>A (n.*97C>A) c.3306C>A (p.Val1102=) c.2577C>A (p.Val859=) n.4809C>A c.2415C>A (p.Val805=) n.3982C>A n.2666C>A n.2157C>A c.*239C>A (n.*239C>A) c.996C>A (p.Val332=) c.3462C>A (p.Val1154=) c.228C>A n.4170C>A c.3231C>A (p.Val1077=) c.3225C>A (p.Val1075=) | |
16 | g.23603559A= | CA2213424404 | PALB2 | c.3467T= (p.Val1156=) c.*946T= (n.*946T=) c.*96T= (n.*96T=) c.3305T= (p.Val1102=) c.2576T= (p.Val859=) n.4808T= c.2414T= (p.Val805=) n.3981T= n.2665T= n.2156T= c.*238T= (n.*238T=) c.995T= (p.Val332=) c.3461T= (p.Val1154=) c.227T= n.4169T= c.3230T= (p.Val1077=) c.3224T= (p.Val1075=) | |
16 | g.23603559A>C | CA395138058 | PALB2 | c.3467T>G (p.Val1156Gly) c.*946T>G (n.*946T>G) c.*96T>G (n.*96T>G) c.3305T>G (p.Val1102Gly) c.2576T>G (p.Val859Gly) n.4808T>G c.2414T>G (p.Val805Gly) n.3981T>G n.2665T>G n.2156T>G c.*238T>G (n.*238T>G) c.995T>G (p.Val332Gly) c.3461T>G (p.Val1154Gly) c.227T>G n.4169T>G c.3230T>G (p.Val1077Gly) c.3224T>G (p.Val1075Gly) | |
16 | g.23603559A>G | CA395138060 | PALB2 | c.3467T>C (p.Val1156Ala) c.*946T>C (n.*946T>C) c.*96T>C (n.*96T>C) c.3305T>C (p.Val1102Ala) c.2576T>C (p.Val859Ala) n.4808T>C c.2414T>C (p.Val805Ala) n.3981T>C n.2665T>C n.2156T>C c.*238T>C (n.*238T>C) c.995T>C (p.Val332Ala) c.3461T>C (p.Val1154Ala) c.227T>C n.4169T>C c.3230T>C (p.Val1077Ala) c.3224T>C (p.Val1075Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.23603559A>T | CA395138061 | PALB2 | c.3467T>A (p.Val1156Asp) c.*946T>A (n.*946T>A) c.*96T>A (n.*96T>A) c.3305T>A (p.Val1102Asp) c.2576T>A (p.Val859Asp) n.4808T>A c.2414T>A (p.Val805Asp) n.3981T>A n.2665T>A n.2156T>A c.*238T>A (n.*238T>A) c.995T>A (p.Val332Asp) c.3461T>A (p.Val1154Asp) c.227T>A n.4169T>A c.3230T>A (p.Val1077Asp) c.3224T>A (p.Val1075Asp) | dbSNP |
16 | g.23603560C>A | CA395138064 | PALB2 | c.3466G>T (p.Val1156Phe) c.*945G>T (n.*945G>T) c.*95G>T (n.*95G>T) c.3304G>T (p.Val1102Phe) c.2575G>T (p.Val859Phe) n.4807G>T c.2413G>T (p.Val805Phe) n.3980G>T n.2664G>T n.2155G>T c.*237G>T (n.*237G>T) c.994G>T (p.Val332Phe) c.3460G>T (p.Val1154Phe) c.226G>T n.4168G>T c.3229G>T (p.Val1077Phe) c.3223G>T (p.Val1075Phe) | |
16 | g.23603560C= | CA2213424405 | PALB2 | c.3466G= (p.Val1156=) c.*945G= (n.*945G=) c.*95G= (n.*95G=) c.3304G= (p.Val1102=) c.2575G= (p.Val859=) n.4807G= c.2413G= (p.Val805=) n.3980G= n.2664G= n.2155G= c.*237G= (n.*237G=) c.994G= (p.Val332=) c.3460G= (p.Val1154=) c.226G= n.4168G= c.3229G= (p.Val1077=) c.3223G= (p.Val1075=) | |
16 | g.23603560C>G | CA395138065 | PALB2 | c.3466G>C (p.Val1156Leu) c.*945G>C (n.*945G>C) c.*95G>C (n.*95G>C) c.3304G>C (p.Val1102Leu) c.2575G>C (p.Val859Leu) n.4807G>C c.2413G>C (p.Val805Leu) n.3980G>C n.2664G>C n.2155G>C c.*237G>C (n.*237G>C) c.994G>C (p.Val332Leu) c.3460G>C (p.Val1154Leu) c.226G>C n.4168G>C c.3229G>C (p.Val1077Leu) c.3223G>C (p.Val1075Leu) | dbSNP |
16 | g.23603560C>T | CA395138067 | PALB2 | c.3466G>A (p.Val1156Ile) c.*945G>A (n.*945G>A) c.*95G>A (n.*95G>A) c.3304G>A (p.Val1102Ile) c.2575G>A (p.Val859Ile) n.4807G>A c.2413G>A (p.Val805Ile) n.3980G>A n.2664G>A n.2155G>A c.*237G>A (n.*237G>A) c.994G>A (p.Val332Ile) c.3460G>A (p.Val1154Ile) c.226G>A n.4168G>A c.3229G>A (p.Val1077Ile) c.3223G>A (p.Val1075Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.23603561A>C | CA494173603 | PALB2 | c.3465T>G (p.Pro1155=) c.*944T>G (n.*944T>G) c.*94T>G (n.*94T>G) c.3303T>G (p.Pro1101=) c.2574T>G (p.Pro858=) n.4806T>G c.2412T>G (p.Pro804=) n.3979T>G n.2663T>G n.2154T>G c.*236T>G (n.*236T>G) c.993T>G (p.Pro331=) c.3459T>G (p.Pro1153=) c.225T>G n.4167T>G c.3228T>G (p.Pro1076=) c.3222T>G (p.Pro1074=) | |
16 | g.23603561A>G | CA494173604 | PALB2 | c.3465T>C (p.Pro1155=) c.*944T>C (n.*944T>C) c.*94T>C (n.*94T>C) c.3303T>C (p.Pro1101=) c.2574T>C (p.Pro858=) n.4806T>C c.2412T>C (p.Pro804=) n.3979T>C n.2663T>C n.2154T>C c.*236T>C (n.*236T>C) c.993T>C (p.Pro331=) c.3459T>C (p.Pro1153=) c.225T>C n.4167T>C c.3228T>C (p.Pro1076=) c.3222T>C (p.Pro1074=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603561A>T | CA494173605 | PALB2 | c.3465T>A (p.Pro1155=) c.*944T>A (n.*944T>A) c.*94T>A (n.*94T>A) c.3303T>A (p.Pro1101=) c.2574T>A (p.Pro858=) n.4806T>A c.2412T>A (p.Pro804=) n.3979T>A n.2663T>A n.2154T>A c.*236T>A (n.*236T>A) c.993T>A (p.Pro331=) c.3459T>A (p.Pro1153=) c.225T>A n.4167T>A c.3228T>A (p.Pro1076=) c.3222T>A (p.Pro1074=) | dbSNP gnomAD v4 |
16 | g.23603564_23603570del | CA2580091248 | PALB2 | c.3459_3465del (p.Pro1154SerfsTer9) c.*938_*944del (n.*938_*944del) c.*88_*94del (n.*88_*94del) c.3297_3303del (p.Pro1100SerfsTer9) c.2568_2574del (p.Pro857SerfsTer9) n.4800_4806del c.2406_2412del (p.Pro803SerfsTer9) n.3973_3979del n.2657_2663del n.2148_2154del c.*230_*236del (n.*230_*236del) c.987_993del (p.Pro330SerfsTer9) c.3453_3459del (p.Pro1152SerfsTer9) c.219_225del n.4161_4167del c.3222_3228del (p.Pro1075SerfsTer9) c.3216_3222del (p.Pro1073SerfsTer9) | ClinVar |
16 | g.23603562G>A | CA395138069 | PALB2 | c.3464C>T (p.Pro1155Leu) c.*943C>T (n.*943C>T) c.*93C>T (n.*93C>T) c.3302C>T (p.Pro1101Leu) c.2573C>T (p.Pro858Leu) n.4805C>T c.2411C>T (p.Pro804Leu) n.3978C>T n.2662C>T n.2153C>T c.*235C>T (n.*235C>T) c.992C>T (p.Pro331Leu) c.3458C>T (p.Pro1153Leu) c.224C>T n.4166C>T c.3227C>T (p.Pro1076Leu) c.3221C>T (p.Pro1074Leu) | ClinVar dbSNP |
16 | g.23603562G>C | CA395138071 | PALB2 | c.3464C>G (p.Pro1155Arg) c.*943C>G (n.*943C>G) c.*93C>G (n.*93C>G) c.3302C>G (p.Pro1101Arg) c.2573C>G (p.Pro858Arg) n.4805C>G c.2411C>G (p.Pro804Arg) n.3978C>G n.2662C>G n.2153C>G c.*235C>G (n.*235C>G) c.992C>G (p.Pro331Arg) c.3458C>G (p.Pro1153Arg) c.224C>G n.4166C>G c.3227C>G (p.Pro1076Arg) c.3221C>G (p.Pro1074Arg) | ClinVar dbSNP |
16 | g.23603562G= | CA2213424408 | PALB2 | c.3464C= (p.Pro1155=) c.*943C= (n.*943C=) c.*93C= (n.*93C=) c.3302C= (p.Pro1101=) c.2573C= (p.Pro858=) n.4805C= c.2411C= (p.Pro804=) n.3978C= n.2662C= n.2153C= c.*235C= (n.*235C=) c.992C= (p.Pro331=) c.3458C= (p.Pro1153=) c.224C= n.4166C= c.3227C= (p.Pro1076=) c.3221C= (p.Pro1074=) | |
16 | g.23603562G>T | CA395138072 | PALB2 | c.3464C>A (p.Pro1155His) c.*943C>A (n.*943C>A) c.*93C>A (n.*93C>A) c.3302C>A (p.Pro1101His) c.2573C>A (p.Pro858His) n.4805C>A c.2411C>A (p.Pro804His) n.3978C>A n.2662C>A n.2153C>A c.*235C>A (n.*235C>A) c.992C>A (p.Pro331His) c.3458C>A (p.Pro1153His) c.224C>A n.4166C>A c.3227C>A (p.Pro1076His) c.3221C>A (p.Pro1074His) | ClinVar dbSNP |
16 | g.23603563G>A | CA395138077 | PALB2 | c.3463C>T (p.Pro1155Ser) c.*942C>T (n.*942C>T) c.*92C>T (n.*92C>T) c.3301C>T (p.Pro1101Ser) c.2572C>T (p.Pro858Ser) n.4804C>T c.2410C>T (p.Pro804Ser) n.3977C>T n.2661C>T n.2152C>T c.*234C>T (n.*234C>T) c.991C>T (p.Pro331Ser) c.3457C>T (p.Pro1153Ser) c.223C>T n.4165C>T c.3226C>T (p.Pro1076Ser) c.3220C>T (p.Pro1074Ser) | ClinVar dbSNP |
16 | g.23603563G>C | CA395138078 | PALB2 | c.3463C>G (p.Pro1155Ala) c.*942C>G (n.*942C>G) c.*92C>G (n.*92C>G) c.3301C>G (p.Pro1101Ala) c.2572C>G (p.Pro858Ala) n.4804C>G c.2410C>G (p.Pro804Ala) n.3977C>G n.2661C>G n.2152C>G c.*234C>G (n.*234C>G) c.991C>G (p.Pro331Ala) c.3457C>G (p.Pro1153Ala) c.223C>G n.4165C>G c.3226C>G (p.Pro1076Ala) c.3220C>G (p.Pro1074Ala) | ClinVar dbSNP |
16 | g.23603563G= | CA2213424410 | PALB2 | c.3463C= (p.Pro1155=) c.*942C= (n.*942C=) c.*92C= (n.*92C=) c.3301C= (p.Pro1101=) c.2572C= (p.Pro858=) n.4804C= c.2410C= (p.Pro804=) n.3977C= n.2661C= n.2152C= c.*234C= (n.*234C=) c.991C= (p.Pro331=) c.3457C= (p.Pro1153=) c.223C= n.4165C= c.3226C= (p.Pro1076=) c.3220C= (p.Pro1074=) | |
16 | g.23603563G>T | CA395138075 | PALB2 | c.3463C>A (p.Pro1155Thr) c.*942C>A (n.*942C>A) c.*92C>A (n.*92C>A) c.3301C>A (p.Pro1101Thr) c.2572C>A (p.Pro858Thr) n.4804C>A c.2410C>A (p.Pro804Thr) n.3977C>A n.2661C>A n.2152C>A c.*234C>A (n.*234C>A) c.991C>A (p.Pro331Thr) c.3457C>A (p.Pro1153Thr) c.223C>A n.4165C>A c.3226C>A (p.Pro1076Thr) c.3220C>A (p.Pro1074Thr) | |
16 | g.23603564T>A | CA494173608 | PALB2 | c.3462A>T (p.Pro1154=) c.*941A>T (n.*941A>T) c.*91A>T (n.*91A>T) c.3300A>T (p.Pro1100=) c.2571A>T (p.Pro857=) n.4803A>T c.2409A>T (p.Pro803=) n.3976A>T n.2660A>T n.2151A>T c.*233A>T (n.*233A>T) c.990A>T (p.Pro330=) c.3456A>T (p.Pro1152=) c.222A>T n.4164A>T c.3225A>T (p.Pro1075=) c.3219A>T (p.Pro1073=) | COSMIC |
16 | g.23603564T>C | CA494173610 | PALB2 | c.3462A>G (p.Pro1154=) c.*941A>G (n.*941A>G) c.*91A>G (n.*91A>G) c.3300A>G (p.Pro1100=) c.2571A>G (p.Pro857=) n.4803A>G c.2409A>G (p.Pro803=) n.3976A>G n.2660A>G n.2151A>G c.*233A>G (n.*233A>G) c.990A>G (p.Pro330=) c.3456A>G (p.Pro1152=) c.222A>G n.4164A>G c.3225A>G (p.Pro1075=) c.3219A>G (p.Pro1073=) | ClinVar dbSNP |
16 | g.23603564T>G | CA494173612 | PALB2 | c.3462A>C (p.Pro1154=) c.*941A>C (n.*941A>C) c.*91A>C (n.*91A>C) c.3300A>C (p.Pro1100=) c.2571A>C (p.Pro857=) n.4803A>C c.2409A>C (p.Pro803=) n.3976A>C n.2660A>C n.2151A>C c.*233A>C (n.*233A>C) c.990A>C (p.Pro330=) c.3456A>C (p.Pro1152=) c.222A>C n.4164A>C c.3225A>C (p.Pro1075=) c.3219A>C (p.Pro1073=) | |
16 | g.23603564dup | CA288484 | PALB2 | c.3462dup (p.Pro1155ThrfsTer4) c.*941dup (n.*941dup) c.*91dup (n.*91dup) c.3300dup (p.Pro1101ThrfsTer4) c.2571dup (p.Pro858ThrfsTer4) n.4803dup c.2409dup (p.Pro804ThrfsTer4) n.3976dup n.2660dup n.2151dup c.*233dup (n.*233dup) c.990dup (p.Pro331ThrfsTer4) c.3456dup (p.Pro1153ThrfsTer4) c.222dup n.4164dup c.3225dup (p.Pro1076ThrfsTer4) c.3219dup (p.Pro1074ThrfsTer4) | ClinVar dbSNP gnomAD v4 |
16 | g.23603564_23603565delinsTG | CA2213424413 | PALB2 | c.3461_3462delinsCA (p.Pro1154=) c.*940_*941delinsCA (n.*940_*941delinsCA) c.*90_*91delinsCA (n.*90_*91delinsCA) c.3299_3300delinsCA (p.Pro1100=) c.2570_2571delinsCA (p.Pro857=) n.4802_4803delinsCA c.2408_2409delinsCA (p.Pro803=) n.3975_3976delinsCA n.2659_2660delinsCA n.2150_2151delinsCA c.*232_*233delinsCA (n.*232_*233delinsCA) c.989_990delinsCA (p.Pro330=) c.3455_3456delinsCA (p.Pro1152=) c.221_222delinsCA n.4163_4164delinsCA c.3224_3225delinsCA (p.Pro1075=) c.3218_3219delinsCA (p.Pro1073=) | |
16 | g.23603565G>A | CA395138082 | PALB2 | c.3461C>T (p.Pro1154Leu) c.*940C>T (n.*940C>T) c.*90C>T (n.*90C>T) c.3299C>T (p.Pro1100Leu) c.2570C>T (p.Pro857Leu) n.4802C>T c.2408C>T (p.Pro803Leu) n.3975C>T n.2659C>T n.2150C>T c.*232C>T (n.*232C>T) c.989C>T (p.Pro330Leu) c.3455C>T (p.Pro1152Leu) c.221C>T n.4163C>T c.3224C>T (p.Pro1075Leu) c.3218C>T (p.Pro1073Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.23603565G>C | CA395138083 | PALB2 | c.3461C>G (p.Pro1154Arg) c.*940C>G (n.*940C>G) c.*90C>G (n.*90C>G) c.3299C>G (p.Pro1100Arg) c.2570C>G (p.Pro857Arg) n.4802C>G c.2408C>G (p.Pro803Arg) n.3975C>G n.2659C>G n.2150C>G c.*232C>G (n.*232C>G) c.989C>G (p.Pro330Arg) c.3455C>G (p.Pro1152Arg) c.221C>G n.4163C>G c.3224C>G (p.Pro1075Arg) c.3218C>G (p.Pro1073Arg) | |
16 | g.23603565G= | CA2213424416 | PALB2 | c.3461C= (p.Pro1154=) c.*940C= (n.*940C=) c.*90C= (n.*90C=) c.3299C= (p.Pro1100=) c.2570C= (p.Pro857=) n.4802C= c.2408C= (p.Pro803=) n.3975C= n.2659C= n.2150C= c.*232C= (n.*232C=) c.989C= (p.Pro330=) c.3455C= (p.Pro1152=) c.221C= n.4163C= c.3224C= (p.Pro1075=) c.3218C= (p.Pro1073=) | |
16 | g.23603565G>T | CA395138086 | PALB2 | c.3461C>A (p.Pro1154Gln) c.*940C>A (n.*940C>A) c.*90C>A (n.*90C>A) c.3299C>A (p.Pro1100Gln) c.2570C>A (p.Pro857Gln) n.4802C>A c.2408C>A (p.Pro803Gln) n.3975C>A n.2659C>A n.2150C>A c.*232C>A (n.*232C>A) c.989C>A (p.Pro330Gln) c.3455C>A (p.Pro1152Gln) c.221C>A n.4163C>A c.3224C>A (p.Pro1075Gln) c.3218C>A (p.Pro1073Gln) | |
16 | g.23603567del | CA915949155 | PALB2 | c.3461del (p.Pro1154HisfsTer11) c.*940del (n.*940del) c.*90del (n.*90del) c.3299del (p.Pro1100HisfsTer11) c.2570del (p.Pro857HisfsTer11) n.4802del c.2408del (p.Pro803HisfsTer11) n.3975del n.2659del n.2150del c.*232del (n.*232del) c.989del (p.Pro330HisfsTer11) c.3455del (p.Pro1152HisfsTer11) c.221del n.4163del c.3224del (p.Pro1075HisfsTer11) c.3218del (p.Pro1073HisfsTer11) | ClinVar dbSNP |
16 | g.23603565_23603568delinsGGGA | CA2213424418 | PALB2 | c.3458_3461delinsTCCC (p.Leu1153=) c.*937_*940delinsTCCC (n.*937_*940delinsTCCC) c.*87_*90delinsTCCC (n.*87_*90delinsTCCC) c.3296_3299delinsTCCC (p.Leu1099=) c.2567_2570delinsTCCC (p.Leu856=) n.4799_4802delinsTCCC c.2405_2408delinsTCCC (p.Leu802=) n.3972_3975delinsTCCC n.2656_2659delinsTCCC n.2147_2150delinsTCCC c.*229_*232delinsTCCC (n.*229_*232delinsTCCC) c.986_989delinsTCCC (p.Leu329=) c.3452_3455delinsTCCC (p.Leu1151=) c.218_221delinsTCCC n.4160_4163delinsTCCC c.3221_3224delinsTCCC (p.Leu1074=) c.3215_3218delinsTCCC (p.Leu1072=) | |
16 | g.23603568_23603574del | CA2825002424 | PALB2 | c.3455_3461del (p.Leu1152HisfsTer11) c.*934_*940del (n.*934_*940del) c.*84_*90del (n.*84_*90del) c.3293_3299del (p.Leu1098HisfsTer11) c.2564_2570del (p.Leu855HisfsTer11) n.4796_4802del c.2402_2408del (p.Leu801HisfsTer11) n.3969_3975del n.2653_2659del n.2144_2150del c.*226_*232del (n.*226_*232del) c.983_989del (p.Leu328HisfsTer11) c.3449_3455del (p.Leu1150HisfsTer11) c.215_221del n.4157_4163del c.3218_3224del (p.Leu1073HisfsTer11) c.3212_3218del (p.Leu1071HisfsTer11) | ClinVar |
16 | g.23603566G>A | CA395138088 | PALB2 | c.3460C>T (p.Pro1154Ser) c.*939C>T (n.*939C>T) c.*89C>T (n.*89C>T) c.3298C>T (p.Pro1100Ser) c.2569C>T (p.Pro857Ser) n.4801C>T c.2407C>T (p.Pro803Ser) n.3974C>T n.2658C>T n.2149C>T c.*231C>T (n.*231C>T) c.988C>T (p.Pro330Ser) c.3454C>T (p.Pro1152Ser) c.220C>T n.4162C>T c.3223C>T (p.Pro1075Ser) c.3217C>T (p.Pro1073Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.23603566G>C | CA395138090 | PALB2 | c.3460C>G (p.Pro1154Ala) c.*939C>G (n.*939C>G) c.*89C>G (n.*89C>G) c.3298C>G (p.Pro1100Ala) c.2569C>G (p.Pro857Ala) n.4801C>G c.2407C>G (p.Pro803Ala) n.3974C>G n.2658C>G n.2149C>G c.*231C>G (n.*231C>G) c.988C>G (p.Pro330Ala) c.3454C>G (p.Pro1152Ala) c.220C>G n.4162C>G c.3223C>G (p.Pro1075Ala) c.3217C>G (p.Pro1073Ala) | dbSNP |
16 | g.23603566G>T | CA395138091 | PALB2 | c.3460C>A (p.Pro1154Thr) c.*939C>A (n.*939C>A) c.*89C>A (n.*89C>A) c.3298C>A (p.Pro1100Thr) c.2569C>A (p.Pro857Thr) n.4801C>A c.2407C>A (p.Pro803Thr) n.3974C>A n.2658C>A n.2149C>A c.*231C>A (n.*231C>A) c.988C>A (p.Pro330Thr) c.3454C>A (p.Pro1152Thr) c.220C>A n.4162C>A c.3223C>A (p.Pro1075Thr) c.3217C>A (p.Pro1073Thr) | ClinVar dbSNP |
16 | g.23603566_23603568delinsAG | CA2695197574 | PALB2 | c.3458_3460delinsCT (p.Leu1153ProfsTer12) c.*937_*939delinsCT (n.*937_*939delinsCT) c.*87_*89delinsCT (n.*87_*89delinsCT) c.3296_3298delinsCT (p.Leu1099ProfsTer12) c.2567_2569delinsCT (p.Leu856ProfsTer12) n.4799_4801delinsCT c.2405_2407delinsCT (p.Leu802ProfsTer12) n.3972_3974delinsCT n.2656_2658delinsCT n.2147_2149delinsCT c.*229_*231delinsCT (n.*229_*231delinsCT) c.986_988delinsCT (p.Leu329ProfsTer12) c.3452_3454delinsCT (p.Leu1151ProfsTer12) c.218_220delinsCT n.4160_4162delinsCT c.3221_3223delinsCT (p.Leu1074ProfsTer12) c.3215_3217delinsCT (p.Leu1072ProfsTer12) | ClinVar |
16 | g.23603571_23603573del | CA915949156 | PALB2 | c.3458_3460del (p.Leu1153del) c.*937_*939del (n.*937_*939del) c.*87_*89del (n.*87_*89del) c.3296_3298del (p.Leu1099del) c.2567_2569del (p.Leu856del) n.4799_4801del c.2405_2407del (p.Leu802del) n.3972_3974del n.2656_2658del n.2147_2149del c.*229_*231del (n.*229_*231del) c.986_988del (p.Leu329del) c.3452_3454del (p.Leu1151del) c.218_220del n.4160_4162del c.3221_3223del (p.Leu1074del) c.3215_3217del (p.Leu1072del) | ClinVar dbSNP |
16 | g.23603567G>A | CA494173614 | PALB2 | c.3459C>T (p.Leu1153=) c.*938C>T (n.*938C>T) c.*88C>T (n.*88C>T) c.3297C>T (p.Leu1099=) c.2568C>T (p.Leu856=) n.4800C>T c.2406C>T (p.Leu802=) n.3973C>T n.2657C>T n.2148C>T c.*230C>T (n.*230C>T) c.987C>T (p.Leu329=) c.3453C>T (p.Leu1151=) c.219C>T n.4161C>T c.3222C>T (p.Leu1074=) c.3216C>T (p.Leu1072=) | ClinVar dbSNP |
16 | g.23603567G>C | CA7963333 | PALB2 | c.3459C>G (p.Leu1153=) c.*938C>G (n.*938C>G) c.*88C>G (n.*88C>G) c.3297C>G (p.Leu1099=) c.2568C>G (p.Leu856=) n.4800C>G c.2406C>G (p.Leu802=) n.3973C>G n.2657C>G n.2148C>G c.*230C>G (n.*230C>G) c.987C>G (p.Leu329=) c.3453C>G (p.Leu1151=) c.219C>G n.4161C>G c.3222C>G (p.Leu1074=) c.3216C>G (p.Leu1072=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603567G= | CA2213424421 | PALB2 | c.3459C= (p.Leu1153=) c.*938C= (n.*938C=) c.*88C= (n.*88C=) c.3297C= (p.Leu1099=) c.2568C= (p.Leu856=) n.4800C= c.2406C= (p.Leu802=) n.3973C= n.2657C= n.2148C= c.*230C= (n.*230C=) c.987C= (p.Leu329=) c.3453C= (p.Leu1151=) c.219C= n.4161C= c.3222C= (p.Leu1074=) c.3216C= (p.Leu1072=) | |
16 | g.23603567G>T | CA494173615 | PALB2 | c.3459C>A (p.Leu1153=) c.*938C>A (n.*938C>A) c.*88C>A (n.*88C>A) c.3297C>A (p.Leu1099=) c.2568C>A (p.Leu856=) n.4800C>A c.2406C>A (p.Leu802=) n.3973C>A n.2657C>A n.2148C>A c.*230C>A (n.*230C>A) c.987C>A (p.Leu329=) c.3453C>A (p.Leu1151=) c.219C>A n.4161C>A c.3222C>A (p.Leu1074=) c.3216C>A (p.Leu1072=) | |
16 | g.23603568A= | CA2213424424 | PALB2 | c.3458T= (p.Leu1153=) c.*937T= (n.*937T=) c.*87T= (n.*87T=) c.3296T= (p.Leu1099=) c.2567T= (p.Leu856=) n.4799T= c.2405T= (p.Leu802=) n.3972T= n.2656T= n.2147T= c.*229T= (n.*229T=) c.986T= (p.Leu329=) c.3452T= (p.Leu1151=) c.218T= n.4160T= c.3221T= (p.Leu1074=) c.3215T= (p.Leu1072=) | |
16 | g.23603568A>C | CA395138094 | PALB2 | c.3458T>G (p.Leu1153Arg) c.*937T>G (n.*937T>G) c.*87T>G (n.*87T>G) c.3296T>G (p.Leu1099Arg) c.2567T>G (p.Leu856Arg) n.4799T>G c.2405T>G (p.Leu802Arg) n.3972T>G n.2656T>G n.2147T>G c.*229T>G (n.*229T>G) c.986T>G (p.Leu329Arg) c.3452T>G (p.Leu1151Arg) c.218T>G n.4160T>G c.3221T>G (p.Leu1074Arg) c.3215T>G (p.Leu1072Arg) | |
16 | g.23603568A>G | CA7963334 | PALB2 | c.3458T>C (p.Leu1153Pro) c.*937T>C (n.*937T>C) c.*87T>C (n.*87T>C) c.3296T>C (p.Leu1099Pro) c.2567T>C (p.Leu856Pro) n.4799T>C c.2405T>C (p.Leu802Pro) n.3972T>C n.2656T>C n.2147T>C c.*229T>C (n.*229T>C) c.986T>C (p.Leu329Pro) c.3452T>C (p.Leu1151Pro) c.218T>C n.4160T>C c.3221T>C (p.Leu1074Pro) c.3215T>C (p.Leu1072Pro) | dbSNP ExAC gnomAD v2 |
16 | g.23603568A>T | CA299756 | PALB2 | c.3458T>A (p.Leu1153His) c.*937T>A (n.*937T>A) c.*87T>A (n.*87T>A) c.3296T>A (p.Leu1099His) c.2567T>A (p.Leu856His) n.4799T>A c.2405T>A (p.Leu802His) n.3972T>A n.2656T>A n.2147T>A c.*229T>A (n.*229T>A) c.986T>A (p.Leu329His) c.3452T>A (p.Leu1151His) c.218T>A n.4160T>A c.3221T>A (p.Leu1074His) c.3215T>A (p.Leu1072His) | ClinVar dbSNP |
16 | g.23603569G>A | CA196709 | PALB2 | c.3457C>T (p.Leu1153Phe) c.*936C>T (n.*936C>T) c.*86C>T (n.*86C>T) c.3295C>T (p.Leu1099Phe) c.2566C>T (p.Leu856Phe) n.4798C>T c.2404C>T (p.Leu802Phe) n.3971C>T n.2655C>T n.2146C>T c.*228C>T (n.*228C>T) c.985C>T (p.Leu329Phe) c.3451C>T (p.Leu1151Phe) c.217C>T n.4159C>T c.3220C>T (p.Leu1074Phe) c.3214C>T (p.Leu1072Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23603569G>C | CA395138098 | PALB2 | c.3457C>G (p.Leu1153Val) c.*936C>G (n.*936C>G) c.*86C>G (n.*86C>G) c.3295C>G (p.Leu1099Val) c.2566C>G (p.Leu856Val) n.4798C>G c.2404C>G (p.Leu802Val) n.3971C>G n.2655C>G n.2146C>G c.*228C>G (n.*228C>G) c.985C>G (p.Leu329Val) c.3451C>G (p.Leu1151Val) c.217C>G n.4159C>G c.3220C>G (p.Leu1074Val) c.3214C>G (p.Leu1072Val) | dbSNP gnomAD v4 |
16 | g.23603569G= | CA2213424426 | PALB2 | c.3457C= (p.Leu1153=) c.*936C= (n.*936C=) c.*86C= (n.*86C=) c.3295C= (p.Leu1099=) c.2566C= (p.Leu856=) n.4798C= c.2404C= (p.Leu802=) n.3971C= n.2655C= n.2146C= c.*228C= (n.*228C=) c.985C= (p.Leu329=) c.3451C= (p.Leu1151=) c.217C= n.4159C= c.3220C= (p.Leu1074=) c.3214C= (p.Leu1072=) | |
16 | g.23603569G>T | CA395138099 | PALB2 | c.3457C>A (p.Leu1153Ile) c.*936C>A (n.*936C>A) c.*86C>A (n.*86C>A) c.3295C>A (p.Leu1099Ile) c.2566C>A (p.Leu856Ile) n.4798C>A c.2404C>A (p.Leu802Ile) n.3971C>A n.2655C>A n.2146C>A c.*228C>A (n.*228C>A) c.985C>A (p.Leu329Ile) c.3451C>A (p.Leu1151Ile) c.217C>A n.4159C>A c.3220C>A (p.Leu1074Ile) c.3214C>A (p.Leu1072Ile) | |
16 | g.23603570G>A | CA494173617 | PALB2 | c.3456C>T (p.Leu1152=) c.*935C>T (n.*935C>T) c.*85C>T (n.*85C>T) c.3294C>T (p.Leu1098=) c.2565C>T (p.Leu855=) n.4797C>T c.2403C>T (p.Leu801=) n.3970C>T n.2654C>T n.2145C>T c.*227C>T (n.*227C>T) c.984C>T (p.Leu328=) c.3450C>T (p.Leu1150=) c.216C>T n.4158C>T c.3219C>T (p.Leu1073=) c.3213C>T (p.Leu1071=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603570G>C | CA494173618 | PALB2 | c.3456C>G (p.Leu1152=) c.*935C>G (n.*935C>G) c.*85C>G (n.*85C>G) c.3294C>G (p.Leu1098=) c.2565C>G (p.Leu855=) n.4797C>G c.2403C>G (p.Leu801=) n.3970C>G n.2654C>G n.2145C>G c.*227C>G (n.*227C>G) c.984C>G (p.Leu328=) c.3450C>G (p.Leu1150=) c.216C>G n.4158C>G c.3219C>G (p.Leu1073=) c.3213C>G (p.Leu1071=) | dbSNP |
16 | g.23603570G>T | CA494173619 | PALB2 | c.3456C>A (p.Leu1152=) c.*935C>A (n.*935C>A) c.*85C>A (n.*85C>A) c.3294C>A (p.Leu1098=) c.2565C>A (p.Leu855=) n.4797C>A c.2403C>A (p.Leu801=) n.3970C>A n.2654C>A n.2145C>A c.*227C>A (n.*227C>A) c.984C>A (p.Leu328=) c.3450C>A (p.Leu1150=) c.216C>A n.4158C>A c.3219C>A (p.Leu1073=) c.3213C>A (p.Leu1071=) | dbSNP |
16 | g.23603570_23603572delinsAA | CA2580091249 | PALB2 | c.3454_3456delinsTT (p.Leu1152PhefsTer13) c.*933_*935delinsTT (n.*933_*935delinsTT) c.*83_*85delinsTT (n.*83_*85delinsTT) c.3292_3294delinsTT (p.Leu1098PhefsTer13) c.2563_2565delinsTT (p.Leu855PhefsTer13) n.4795_4797delinsTT c.2401_2403delinsTT (p.Leu801PhefsTer13) n.3968_3970delinsTT n.2652_2654delinsTT n.2143_2145delinsTT c.*225_*227delinsTT (n.*225_*227delinsTT) c.982_984delinsTT (p.Leu328PhefsTer13) c.3448_3450delinsTT (p.Leu1150PhefsTer13) c.214_216delinsTT n.4156_4158delinsTT c.3217_3219delinsTT (p.Leu1073PhefsTer13) c.3211_3213delinsTT (p.Leu1071PhefsTer13) | ClinVar |
16 | g.23603571A= | CA2213424428 | PALB2 | c.3455T= (p.Leu1152=) c.*934T= (n.*934T=) c.*84T= (n.*84T=) c.3293T= (p.Leu1098=) c.2564T= (p.Leu855=) n.4796T= c.2402T= (p.Leu801=) n.3969T= n.2653T= n.2144T= c.*226T= (n.*226T=) c.983T= (p.Leu328=) c.3449T= (p.Leu1150=) c.215T= n.4157T= c.3218T= (p.Leu1073=) c.3212T= (p.Leu1071=) | |
16 | g.23603571A>C | CA166841 | PALB2 | c.3455T>G (p.Leu1152Arg) c.*934T>G (n.*934T>G) c.*84T>G (n.*84T>G) c.3293T>G (p.Leu1098Arg) c.2564T>G (p.Leu855Arg) n.4796T>G c.2402T>G (p.Leu801Arg) n.3969T>G n.2653T>G n.2144T>G c.*226T>G (n.*226T>G) c.983T>G (p.Leu328Arg) c.3449T>G (p.Leu1150Arg) c.215T>G n.4157T>G c.3218T>G (p.Leu1073Arg) c.3212T>G (p.Leu1071Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603571A>G | CA395138103 | PALB2 | c.3455T>C (p.Leu1152Pro) c.*934T>C (n.*934T>C) c.*84T>C (n.*84T>C) c.3293T>C (p.Leu1098Pro) c.2564T>C (p.Leu855Pro) n.4796T>C c.2402T>C (p.Leu801Pro) n.3969T>C n.2653T>C n.2144T>C c.*226T>C (n.*226T>C) c.983T>C (p.Leu328Pro) c.3449T>C (p.Leu1150Pro) c.215T>C n.4157T>C c.3218T>C (p.Leu1073Pro) c.3212T>C (p.Leu1071Pro) | ClinVar dbSNP |
16 | g.23603571A>T | CA395138101 | PALB2 | c.3455T>A (p.Leu1152His) c.*934T>A (n.*934T>A) c.*84T>A (n.*84T>A) c.3293T>A (p.Leu1098His) c.2564T>A (p.Leu855His) n.4796T>A c.2402T>A (p.Leu801His) n.3969T>A n.2653T>A n.2144T>A c.*226T>A (n.*226T>A) c.983T>A (p.Leu328His) c.3449T>A (p.Leu1150His) c.215T>A n.4157T>A c.3218T>A (p.Leu1073His) c.3212T>A (p.Leu1071His) | dbSNP |
16 | g.23603572G>A | CA337664 | PALB2 | c.3454C>T (p.Leu1152Phe) c.*933C>T (n.*933C>T) c.*83C>T (n.*83C>T) c.3292C>T (p.Leu1098Phe) c.2563C>T (p.Leu855Phe) n.4795C>T c.2401C>T (p.Leu801Phe) n.3968C>T n.2652C>T n.2143C>T c.*225C>T (n.*225C>T) c.982C>T (p.Leu328Phe) c.3448C>T (p.Leu1150Phe) c.214C>T n.4156C>T c.3217C>T (p.Leu1073Phe) c.3211C>T (p.Leu1071Phe) | ClinVar dbSNP gnomAD v4 |
16 | g.23603572G>C | CA395138106 | PALB2 | c.3454C>G (p.Leu1152Val) c.*933C>G (n.*933C>G) c.*83C>G (n.*83C>G) c.3292C>G (p.Leu1098Val) c.2563C>G (p.Leu855Val) n.4795C>G c.2401C>G (p.Leu801Val) n.3968C>G n.2652C>G n.2143C>G c.*225C>G (n.*225C>G) c.982C>G (p.Leu328Val) c.3448C>G (p.Leu1150Val) c.214C>G n.4156C>G c.3217C>G (p.Leu1073Val) c.3211C>G (p.Leu1071Val) | dbSNP |
16 | g.23603572G= | CA2213424430 | PALB2 | c.3454C= (p.Leu1152=) c.*933C= (n.*933C=) c.*83C= (n.*83C=) c.3292C= (p.Leu1098=) c.2563C= (p.Leu855=) n.4795C= c.2401C= (p.Leu801=) n.3968C= n.2652C= n.2143C= c.*225C= (n.*225C=) c.982C= (p.Leu328=) c.3448C= (p.Leu1150=) c.214C= n.4156C= c.3217C= (p.Leu1073=) c.3211C= (p.Leu1071=) | |
16 | g.23603572G>T | CA395138107 | PALB2 | c.3454C>A (p.Leu1152Ile) c.*933C>A (n.*933C>A) c.*83C>A (n.*83C>A) c.3292C>A (p.Leu1098Ile) c.2563C>A (p.Leu855Ile) n.4795C>A c.2401C>A (p.Leu801Ile) n.3968C>A n.2652C>A n.2143C>A c.*225C>A (n.*225C>A) c.982C>A (p.Leu328Ile) c.3448C>A (p.Leu1150Ile) c.214C>A n.4156C>A c.3217C>A (p.Leu1073Ile) c.3211C>A (p.Leu1071Ile) | dbSNP |
16 | g.23603573G>A | CA494173623 | PALB2 | c.3453C>T (p.Ala1151=) c.*932C>T (n.*932C>T) c.*82C>T (n.*82C>T) c.3291C>T (p.Ala1097=) c.2562C>T (p.Ala854=) n.4794C>T c.2400C>T (p.Ala800=) n.3967C>T n.2651C>T n.2142C>T c.*224C>T (n.*224C>T) c.981C>T (p.Ala327=) c.3447C>T (p.Ala1149=) c.213C>T n.4155C>T c.3216C>T (p.Ala1072=) c.3210C>T (p.Ala1070=) | ClinVar dbSNP |
16 | g.23603573G>C | CA494173625 | PALB2 | c.3453C>G (p.Ala1151=) c.*932C>G (n.*932C>G) c.*82C>G (n.*82C>G) c.3291C>G (p.Ala1097=) c.2562C>G (p.Ala854=) n.4794C>G c.2400C>G (p.Ala800=) n.3967C>G n.2651C>G n.2142C>G c.*224C>G (n.*224C>G) c.981C>G (p.Ala327=) c.3447C>G (p.Ala1149=) c.213C>G n.4155C>G c.3216C>G (p.Ala1072=) c.3210C>G (p.Ala1070=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603573G= | CA2213424433 | PALB2 | c.3453C= (p.Ala1151=) c.*932C= (n.*932C=) c.*82C= (n.*82C=) c.3291C= (p.Ala1097=) c.2562C= (p.Ala854=) n.4794C= c.2400C= (p.Ala800=) n.3967C= n.2651C= n.2142C= c.*224C= (n.*224C=) c.981C= (p.Ala327=) c.3447C= (p.Ala1149=) c.213C= n.4155C= c.3216C= (p.Ala1072=) c.3210C= (p.Ala1070=) | |
16 | g.23603573G>T | CA494173624 | PALB2 | c.3453C>A (p.Ala1151=) c.*932C>A (n.*932C>A) c.*82C>A (n.*82C>A) c.3291C>A (p.Ala1097=) c.2562C>A (p.Ala854=) n.4794C>A c.2400C>A (p.Ala800=) n.3967C>A n.2651C>A n.2142C>A c.*224C>A (n.*224C>A) c.981C>A (p.Ala327=) c.3447C>A (p.Ala1149=) c.213C>A n.4155C>A c.3216C>A (p.Ala1072=) c.3210C>A (p.Ala1070=) | |
16 | g.23603574G>A | CA395138109 | PALB2 | c.3452C>T (p.Ala1151Val) c.*931C>T (n.*931C>T) c.*81C>T (n.*81C>T) c.3290C>T (p.Ala1097Val) c.2561C>T (p.Ala854Val) n.4793C>T c.2399C>T (p.Ala800Val) n.3966C>T n.2650C>T n.2141C>T c.*223C>T (n.*223C>T) c.980C>T (p.Ala327Val) c.3446C>T (p.Ala1149Val) c.212C>T n.4154C>T c.3215C>T (p.Ala1072Val) c.3209C>T (p.Ala1070Val) | dbSNP |
16 | g.23603574G>C | CA395138111 | PALB2 | c.3452C>G (p.Ala1151Gly) c.*931C>G (n.*931C>G) c.*81C>G (n.*81C>G) c.3290C>G (p.Ala1097Gly) c.2561C>G (p.Ala854Gly) n.4793C>G c.2399C>G (p.Ala800Gly) n.3966C>G n.2650C>G n.2141C>G c.*223C>G (n.*223C>G) c.980C>G (p.Ala327Gly) c.3446C>G (p.Ala1149Gly) c.212C>G n.4154C>G c.3215C>G (p.Ala1072Gly) c.3209C>G (p.Ala1070Gly) | dbSNP |
16 | g.23603574G>T | CA395138113 | PALB2 | c.3452C>A (p.Ala1151Asp) c.*931C>A (n.*931C>A) c.*81C>A (n.*81C>A) c.3290C>A (p.Ala1097Asp) c.2561C>A (p.Ala854Asp) n.4793C>A c.2399C>A (p.Ala800Asp) n.3966C>A n.2650C>A n.2141C>A c.*223C>A (n.*223C>A) c.980C>A (p.Ala327Asp) c.3446C>A (p.Ala1149Asp) c.212C>A n.4154C>A c.3215C>A (p.Ala1072Asp) c.3209C>A (p.Ala1070Asp) | dbSNP |
16 | g.23603575_23603576insTGTACTGC | CA2573054197 | PALB2 | c.3452_3453insAGTACAGC (p.Leu1152ValfsTer16) c.*931_*932insAGTACAGC (n.*931_*932insAGTACAGC) c.*81_*82insAGTACAGC (n.*81_*82insAGTACAGC) c.3290_3291insAGTACAGC (p.Leu1098ValfsTer16) c.2561_2562insAGTACAGC (p.Leu855ValfsTer16) n.4793_4794insAGTACAGC c.2399_2400insAGTACAGC (p.Leu801ValfsTer16) n.3966_3967insAGTACAGC n.2650_2651insAGTACAGC n.2141_2142insAGTACAGC c.*223_*224insAGTACAGC (n.*223_*224insAGTACAGC) c.980_981insAGTACAGC (p.Leu328ValfsTer16) c.3446_3447insAGTACAGC (p.Leu1150ValfsTer16) c.212_213insAGTACAGC n.4154_4155insAGTACAGC c.3215_3216insAGTACAGC (p.Leu1073ValfsTer16) c.3209_3210insAGTACAGC (p.Leu1071ValfsTer16) | ClinVar dbSNP |
16 | g.23603575C>A | CA395138115 | PALB2 | c.3451G>T (p.Ala1151Ser) c.*930G>T (n.*930G>T) c.*80G>T (n.*80G>T) c.3289G>T (p.Ala1097Ser) c.2560G>T (p.Ala854Ser) n.4792G>T c.2398G>T (p.Ala800Ser) n.3965G>T n.2649G>T n.2140G>T c.*222G>T (n.*222G>T) c.979G>T (p.Ala327Ser) c.3445G>T (p.Ala1149Ser) c.211G>T n.4153G>T c.3214G>T (p.Ala1072Ser) c.3208G>T (p.Ala1070Ser) | ClinVar |
16 | g.23603575C>G | CA395138117 | PALB2 | c.3451G>C (p.Ala1151Pro) c.*930G>C (n.*930G>C) c.*80G>C (n.*80G>C) c.3289G>C (p.Ala1097Pro) c.2560G>C (p.Ala854Pro) n.4792G>C c.2398G>C (p.Ala800Pro) n.3965G>C n.2649G>C n.2140G>C c.*222G>C (n.*222G>C) c.979G>C (p.Ala327Pro) c.3445G>C (p.Ala1149Pro) c.211G>C n.4153G>C c.3214G>C (p.Ala1072Pro) c.3208G>C (p.Ala1070Pro) | dbSNP |
16 | g.23603575C>T | CA395138119 | PALB2 | c.3451G>A (p.Ala1151Thr) c.*930G>A (n.*930G>A) c.*80G>A (n.*80G>A) c.3289G>A (p.Ala1097Thr) c.2560G>A (p.Ala854Thr) n.4792G>A c.2398G>A (p.Ala800Thr) n.3965G>A n.2649G>A n.2140G>A c.*222G>A (n.*222G>A) c.979G>A (p.Ala327Thr) c.3445G>A (p.Ala1149Thr) c.211G>A n.4153G>A c.3214G>A (p.Ala1072Thr) c.3208G>A (p.Ala1070Thr) | ClinVar dbSNP |
16 | g.23603576A= | CA2213424435 | PALB2 | c.3450T= (p.Thr1150=) c.*929T= (n.*929T=) c.*79T= (n.*79T=) c.3288T= (p.Thr1096=) c.2559T= (p.Thr853=) n.4791T= c.2397T= (p.Thr799=) n.3964T= n.2648T= n.2139T= c.*221T= (n.*221T=) c.978T= (p.Thr326=) c.3444T= (p.Thr1148=) c.210T= n.4152T= c.3213T= (p.Thr1071=) c.3207T= (p.Thr1069=) | |
16 | g.23603576A>C | CA494173627 | PALB2 | c.3450T>G (p.Thr1150=) c.*929T>G (n.*929T>G) c.*79T>G (n.*79T>G) c.3288T>G (p.Thr1096=) c.2559T>G (p.Thr853=) n.4791T>G c.2397T>G (p.Thr799=) n.3964T>G n.2648T>G n.2139T>G c.*221T>G (n.*221T>G) c.978T>G (p.Thr326=) c.3444T>G (p.Thr1148=) c.210T>G n.4152T>G c.3213T>G (p.Thr1071=) c.3207T>G (p.Thr1069=) | ClinVar |
16 | g.23603576A>G | CA7963335 | PALB2 | c.3450T>C (p.Thr1150=) c.*929T>C (n.*929T>C) c.*79T>C (n.*79T>C) c.3288T>C (p.Thr1096=) c.2559T>C (p.Thr853=) n.4791T>C c.2397T>C (p.Thr799=) n.3964T>C n.2648T>C n.2139T>C c.*221T>C (n.*221T>C) c.978T>C (p.Thr326=) c.3444T>C (p.Thr1148=) c.210T>C n.4152T>C c.3213T>C (p.Thr1071=) c.3207T>C (p.Thr1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603576A>T | CA7963336 | PALB2 | c.3450T>A (p.Thr1150=) c.*929T>A (n.*929T>A) c.*79T>A (n.*79T>A) c.3288T>A (p.Thr1096=) c.2559T>A (p.Thr853=) n.4791T>A c.2397T>A (p.Thr799=) n.3964T>A n.2648T>A n.2139T>A c.*221T>A (n.*221T>A) c.978T>A (p.Thr326=) c.3444T>A (p.Thr1148=) c.210T>A n.4152T>A c.3213T>A (p.Thr1071=) c.3207T>A (p.Thr1069=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603577G>A | CA395138123 | PALB2 | c.3449C>T (p.Thr1150Ile) c.*928C>T (n.*928C>T) c.*78C>T (n.*78C>T) c.3287C>T (p.Thr1096Ile) c.2558C>T (p.Thr853Ile) n.4790C>T c.2396C>T (p.Thr799Ile) n.3963C>T n.2647C>T n.2138C>T c.*220C>T (n.*220C>T) c.977C>T (p.Thr326Ile) c.3443C>T (p.Thr1148Ile) c.209C>T n.4151C>T c.3212C>T (p.Thr1071Ile) c.3206C>T (p.Thr1069Ile) | ClinVar dbSNP |
16 | g.23603577G>C | CA395138125 | PALB2 | c.3449C>G (p.Thr1150Ser) c.*928C>G (n.*928C>G) c.*78C>G (n.*78C>G) c.3287C>G (p.Thr1096Ser) c.2558C>G (p.Thr853Ser) n.4790C>G c.2396C>G (p.Thr799Ser) n.3963C>G n.2647C>G n.2138C>G c.*220C>G (n.*220C>G) c.977C>G (p.Thr326Ser) c.3443C>G (p.Thr1148Ser) c.209C>G n.4151C>G c.3212C>G (p.Thr1071Ser) c.3206C>G (p.Thr1069Ser) | dbSNP |
16 | g.23603577G>T | CA395138126 | PALB2 | c.3449C>A (p.Thr1150Asn) c.*928C>A (n.*928C>A) c.*78C>A (n.*78C>A) c.3287C>A (p.Thr1096Asn) c.2558C>A (p.Thr853Asn) n.4790C>A c.2396C>A (p.Thr799Asn) n.3963C>A n.2647C>A n.2138C>A c.*220C>A (n.*220C>A) c.977C>A (p.Thr326Asn) c.3443C>A (p.Thr1148Asn) c.209C>A n.4151C>A c.3212C>A (p.Thr1071Asn) c.3206C>A (p.Thr1069Asn) | |
16 | g.23603578T>A | CA395138131 | PALB2 | c.3448A>T (p.Thr1150Ser) c.*927A>T (n.*927A>T) c.*77A>T (n.*77A>T) c.3286A>T (p.Thr1096Ser) c.2557A>T (p.Thr853Ser) n.4789A>T c.2395A>T (p.Thr799Ser) n.3962A>T n.2646A>T n.2137A>T c.*219A>T (n.*219A>T) c.976A>T (p.Thr326Ser) c.3442A>T (p.Thr1148Ser) c.208A>T n.4150A>T c.3211A>T (p.Thr1071Ser) c.3205A>T (p.Thr1069Ser) | dbSNP |
16 | g.23603578T>C | CA395138132 | PALB2 | c.3448A>G (p.Thr1150Ala) c.*927A>G (n.*927A>G) c.*77A>G (n.*77A>G) c.3286A>G (p.Thr1096Ala) c.2557A>G (p.Thr853Ala) n.4789A>G c.2395A>G (p.Thr799Ala) n.3962A>G n.2646A>G n.2137A>G c.*219A>G (n.*219A>G) c.976A>G (p.Thr326Ala) c.3442A>G (p.Thr1148Ala) c.208A>G n.4150A>G c.3211A>G (p.Thr1071Ala) c.3205A>G (p.Thr1069Ala) | ClinVar dbSNP |
16 | g.23603578T>G | CA395138129 | PALB2 | c.3448A>C (p.Thr1150Pro) c.*927A>C (n.*927A>C) c.*77A>C (n.*77A>C) c.3286A>C (p.Thr1096Pro) c.2557A>C (p.Thr853Pro) n.4789A>C c.2395A>C (p.Thr799Pro) n.3962A>C n.2646A>C n.2137A>C c.*219A>C (n.*219A>C) c.976A>C (p.Thr326Pro) c.3442A>C (p.Thr1148Pro) c.208A>C n.4150A>C c.3211A>C (p.Thr1071Pro) c.3205A>C (p.Thr1069Pro) | dbSNP |
16 | g.23603579A= | CA2213424437 | PALB2 | c.3447T= (p.Cys1149=) c.*926T= (n.*926T=) c.*76T= (n.*76T=) c.3285T= (p.Cys1095=) c.2556T= (p.Cys852=) n.4788T= c.2394T= (p.Cys798=) n.3961T= n.2645T= n.2136T= c.*218T= (n.*218T=) c.975T= (p.Cys325=) c.3441T= (p.Cys1147=) c.207T= n.4149T= c.3210T= (p.Cys1070=) c.3204T= (p.Cys1068=) | |
16 | g.23603579A>C | CA395138134 | PALB2 | c.3447T>G (p.Cys1149Trp) c.*926T>G (n.*926T>G) c.*76T>G (n.*76T>G) c.3285T>G (p.Cys1095Trp) c.2556T>G (p.Cys852Trp) n.4788T>G c.2394T>G (p.Cys798Trp) n.3961T>G n.2645T>G n.2136T>G c.*218T>G (n.*218T>G) c.975T>G (p.Cys325Trp) c.3441T>G (p.Cys1147Trp) c.207T>G n.4149T>G c.3210T>G (p.Cys1070Trp) c.3204T>G (p.Cys1068Trp) | |
16 | g.23603579A>G | CA494173635 | PALB2 | c.3447T>C (p.Cys1149=) c.*926T>C (n.*926T>C) c.*76T>C (n.*76T>C) c.3285T>C (p.Cys1095=) c.2556T>C (p.Cys852=) n.4788T>C c.2394T>C (p.Cys798=) n.3961T>C n.2645T>C n.2136T>C c.*218T>C (n.*218T>C) c.975T>C (p.Cys325=) c.3441T>C (p.Cys1147=) c.207T>C n.4149T>C c.3210T>C (p.Cys1070=) c.3204T>C (p.Cys1068=) | |
16 | g.23603579A>T | CA395138136 | PALB2 | c.3447T>A (p.Cys1149Ter) c.*926T>A (n.*926T>A) c.*76T>A (n.*76T>A) c.3285T>A (p.Cys1095Ter) c.2556T>A (p.Cys852Ter) n.4788T>A c.2394T>A (p.Cys798Ter) n.3961T>A n.2645T>A n.2136T>A c.*218T>A (n.*218T>A) c.975T>A (p.Cys325Ter) c.3441T>A (p.Cys1147Ter) c.207T>A n.4149T>A c.3210T>A (p.Cys1070Ter) c.3204T>A (p.Cys1068Ter) | ClinVar dbSNP |
16 | g.23603580C>A | CA395138138 | PALB2 | c.3446G>T (p.Cys1149Phe) c.*925G>T (n.*925G>T) c.*75G>T (n.*75G>T) c.3284G>T (p.Cys1095Phe) c.2555G>T (p.Cys852Phe) n.4787G>T c.2393G>T (p.Cys798Phe) n.3960G>T n.2644G>T n.2135G>T c.*217G>T (n.*217G>T) c.974G>T (p.Cys325Phe) c.3440G>T (p.Cys1147Phe) c.206G>T n.4148G>T c.3209G>T (p.Cys1070Phe) c.3203G>T (p.Cys1068Phe) | |
16 | g.23603580C>G | CA395138140 | PALB2 | c.3446G>C (p.Cys1149Ser) c.*925G>C (n.*925G>C) c.*75G>C (n.*75G>C) c.3284G>C (p.Cys1095Ser) c.2555G>C (p.Cys852Ser) n.4787G>C c.2393G>C (p.Cys798Ser) n.3960G>C n.2644G>C n.2135G>C c.*217G>C (n.*217G>C) c.974G>C (p.Cys325Ser) c.3440G>C (p.Cys1147Ser) c.206G>C n.4148G>C c.3209G>C (p.Cys1070Ser) c.3203G>C (p.Cys1068Ser) | dbSNP |
16 | g.23603580C>T | CA395138142 | PALB2 | c.3446G>A (p.Cys1149Tyr) c.*925G>A (n.*925G>A) c.*75G>A (n.*75G>A) c.3284G>A (p.Cys1095Tyr) c.2555G>A (p.Cys852Tyr) n.4787G>A c.2393G>A (p.Cys798Tyr) n.3960G>A n.2644G>A n.2135G>A c.*217G>A (n.*217G>A) c.974G>A (p.Cys325Tyr) c.3440G>A (p.Cys1147Tyr) c.206G>A n.4148G>A c.3209G>A (p.Cys1070Tyr) c.3203G>A (p.Cys1068Tyr) | dbSNP |
16 | g.23603581A= | CA2213424440 | PALB2 | c.3445T= (p.Cys1149=) c.*924T= (n.*924T=) c.*74T= (n.*74T=) c.3283T= (p.Cys1095=) c.2554T= (p.Cys852=) n.4786T= c.2392T= (p.Cys798=) n.3959T= n.2643T= n.2134T= c.*216T= (n.*216T=) c.973T= (p.Cys325=) c.3439T= (p.Cys1147=) c.205T= n.4147T= c.3208T= (p.Cys1070=) c.3202T= (p.Cys1068=) | |
16 | g.23603581A>C | CA395138144 | PALB2 | c.3445T>G (p.Cys1149Gly) c.*924T>G (n.*924T>G) c.*74T>G (n.*74T>G) c.3283T>G (p.Cys1095Gly) c.2554T>G (p.Cys852Gly) n.4786T>G c.2392T>G (p.Cys798Gly) n.3959T>G n.2643T>G n.2134T>G c.*216T>G (n.*216T>G) c.973T>G (p.Cys325Gly) c.3439T>G (p.Cys1147Gly) c.205T>G n.4147T>G c.3208T>G (p.Cys1070Gly) c.3202T>G (p.Cys1068Gly) | ClinVar |
16 | g.23603581A>G | CA395138146 | PALB2 | c.3445T>C (p.Cys1149Arg) c.*924T>C (n.*924T>C) c.*74T>C (n.*74T>C) c.3283T>C (p.Cys1095Arg) c.2554T>C (p.Cys852Arg) n.4786T>C c.2392T>C (p.Cys798Arg) n.3959T>C n.2643T>C n.2134T>C c.*216T>C (n.*216T>C) c.973T>C (p.Cys325Arg) c.3439T>C (p.Cys1147Arg) c.205T>C n.4147T>C c.3208T>C (p.Cys1070Arg) c.3202T>C (p.Cys1068Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.23603581A>T | CA395138148 | PALB2 | c.3445T>A (p.Cys1149Ser) c.*924T>A (n.*924T>A) c.*74T>A (n.*74T>A) c.3283T>A (p.Cys1095Ser) c.2554T>A (p.Cys852Ser) n.4786T>A c.2392T>A (p.Cys798Ser) n.3959T>A n.2643T>A n.2134T>A c.*216T>A (n.*216T>A) c.973T>A (p.Cys325Ser) c.3439T>A (p.Cys1147Ser) c.205T>A n.4147T>A c.3208T>A (p.Cys1070Ser) c.3202T>A (p.Cys1068Ser) | dbSNP |
16 | g.23603582C>A | CA7963337 | PALB2 | c.3444G>T (p.Gln1148His) c.*923G>T (n.*923G>T) c.*73G>T (n.*73G>T) c.3282G>T (p.Gln1094His) c.2553G>T (p.Gln851His) n.4785G>T c.2391G>T (p.Gln797His) n.3958G>T n.2642G>T n.2133G>T c.*215G>T (n.*215G>T) c.972G>T (p.Gln324His) c.3438G>T (p.Gln1146His) c.204G>T n.4146G>T c.3207G>T (p.Gln1069His) c.3201G>T (p.Gln1067His) | ClinVar dbSNP ExAC |
16 | g.23603582C= | CA2213424442 | PALB2 | c.3444G= (p.Gln1148=) c.*923G= (n.*923G=) c.*73G= (n.*73G=) c.3282G= (p.Gln1094=) c.2553G= (p.Gln851=) n.4785G= c.2391G= (p.Gln797=) n.3958G= n.2642G= n.2133G= c.*215G= (n.*215G=) c.972G= (p.Gln324=) c.3438G= (p.Gln1146=) c.204G= n.4146G= c.3207G= (p.Gln1069=) c.3201G= (p.Gln1067=) | |
16 | g.23603582C>G | CA395138150 | PALB2 | c.3444G>C (p.Gln1148His) c.*923G>C (n.*923G>C) c.*73G>C (n.*73G>C) c.3282G>C (p.Gln1094His) c.2553G>C (p.Gln851His) n.4785G>C c.2391G>C (p.Gln797His) n.3958G>C n.2642G>C n.2133G>C c.*215G>C (n.*215G>C) c.972G>C (p.Gln324His) c.3438G>C (p.Gln1146His) c.204G>C n.4146G>C c.3207G>C (p.Gln1069His) c.3201G>C (p.Gln1067His) | dbSNP |
16 | g.23603582C>T | CA494173642 | PALB2 | c.3444G>A (p.Gln1148=) c.*923G>A (n.*923G>A) c.*73G>A (n.*73G>A) c.3282G>A (p.Gln1094=) c.2553G>A (p.Gln851=) n.4785G>A c.2391G>A (p.Gln797=) n.3958G>A n.2642G>A n.2133G>A c.*215G>A (n.*215G>A) c.972G>A (p.Gln324=) c.3438G>A (p.Gln1146=) c.204G>A n.4146G>A c.3207G>A (p.Gln1069=) c.3201G>A (p.Gln1067=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603583T>A | CA395138152 | PALB2 | c.3443A>T (p.Gln1148Leu) c.*922A>T (n.*922A>T) c.*72A>T (n.*72A>T) c.3281A>T (p.Gln1094Leu) c.2552A>T (p.Gln851Leu) n.4784A>T c.2390A>T (p.Gln797Leu) n.3957A>T n.2641A>T n.2132A>T c.*214A>T (n.*214A>T) c.971A>T (p.Gln324Leu) c.3437A>T (p.Gln1146Leu) c.203A>T n.4145A>T c.3206A>T (p.Gln1069Leu) c.3200A>T (p.Gln1067Leu) | ClinVar dbSNP |
16 | g.23603583T>C | CA288481 | PALB2 | c.3443A>G (p.Gln1148Arg) c.*922A>G (n.*922A>G) c.*72A>G (n.*72A>G) c.3281A>G (p.Gln1094Arg) c.2552A>G (p.Gln851Arg) n.4784A>G c.2390A>G (p.Gln797Arg) n.3957A>G n.2641A>G n.2132A>G c.*214A>G (n.*214A>G) c.971A>G (p.Gln324Arg) c.3437A>G (p.Gln1146Arg) c.203A>G n.4145A>G c.3206A>G (p.Gln1069Arg) c.3200A>G (p.Gln1067Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603583T>G | CA395138154 | PALB2 | c.3443A>C (p.Gln1148Pro) c.*922A>C (n.*922A>C) c.*72A>C (n.*72A>C) c.3281A>C (p.Gln1094Pro) c.2552A>C (p.Gln851Pro) n.4784A>C c.2390A>C (p.Gln797Pro) n.3957A>C n.2641A>C n.2132A>C c.*214A>C (n.*214A>C) c.971A>C (p.Gln324Pro) c.3437A>C (p.Gln1146Pro) c.203A>C n.4145A>C c.3206A>C (p.Gln1069Pro) c.3200A>C (p.Gln1067Pro) | |
16 | g.23603583T= | CA2213424444 | PALB2 | c.3443A= (p.Gln1148=) c.*922A= (n.*922A=) c.*72A= (n.*72A=) c.3281A= (p.Gln1094=) c.2552A= (p.Gln851=) n.4784A= c.2390A= (p.Gln797=) n.3957A= n.2641A= n.2132A= c.*214A= (n.*214A=) c.971A= (p.Gln324=) c.3437A= (p.Gln1146=) c.203A= n.4145A= c.3206A= (p.Gln1069=) c.3200A= (p.Gln1067=) | |
16 | g.23603584G>A | CA395138158 | PALB2 | c.3442C>T (p.Gln1148Ter) c.*921C>T (n.*921C>T) c.*71C>T (n.*71C>T) c.3280C>T (p.Gln1094Ter) c.2551C>T (p.Gln851Ter) n.4783C>T c.2389C>T (p.Gln797Ter) n.3956C>T n.2640C>T n.2131C>T c.*213C>T (n.*213C>T) c.970C>T (p.Gln324Ter) c.3436C>T (p.Gln1146Ter) c.202C>T n.4144C>T c.3205C>T (p.Gln1069Ter) c.3199C>T (p.Gln1067Ter) | ClinVar dbSNP COSMIC |
16 | g.23603584G>C | CA10584501 | PALB2 | c.3442C>G (p.Gln1148Glu) c.*921C>G (n.*921C>G) c.*71C>G (n.*71C>G) c.3280C>G (p.Gln1094Glu) c.2551C>G (p.Gln851Glu) n.4783C>G c.2389C>G (p.Gln797Glu) n.3956C>G n.2640C>G n.2131C>G c.*213C>G (n.*213C>G) c.970C>G (p.Gln324Glu) c.3436C>G (p.Gln1146Glu) c.202C>G n.4144C>G c.3205C>G (p.Gln1069Glu) c.3199C>G (p.Gln1067Glu) | ClinVar dbSNP gnomAD v4 |
16 | g.23603584G= | CA2213424448 | PALB2 | c.3442C= (p.Gln1148=) c.*921C= (n.*921C=) c.*71C= (n.*71C=) c.3280C= (p.Gln1094=) c.2551C= (p.Gln851=) n.4783C= c.2389C= (p.Gln797=) n.3956C= n.2640C= n.2131C= c.*213C= (n.*213C=) c.970C= (p.Gln324=) c.3436C= (p.Gln1146=) c.202C= n.4144C= c.3205C= (p.Gln1069=) c.3199C= (p.Gln1067=) | |
16 | g.23603584G>T | CA10584502 | PALB2 | c.3442C>A (p.Gln1148Lys) c.*921C>A (n.*921C>A) c.*71C>A (n.*71C>A) c.3280C>A (p.Gln1094Lys) c.2551C>A (p.Gln851Lys) n.4783C>A c.2389C>A (p.Gln797Lys) n.3956C>A n.2640C>A n.2131C>A c.*213C>A (n.*213C>A) c.970C>A (p.Gln324Lys) c.3436C>A (p.Gln1146Lys) c.202C>A n.4144C>A c.3205C>A (p.Gln1069Lys) c.3199C>A (p.Gln1067Lys) | ClinVar dbSNP gnomAD v4 |
16 | g.23603586_23603589del | CA2695197575 | PALB2 | c.3439_3442del (p.Gly1147SerfsTer17) c.*918_*921del (n.*918_*921del) c.*68_*71del (n.*68_*71del) c.3277_3280del (p.Gly1093SerfsTer17) c.2548_2551del (p.Gly850SerfsTer17) n.4780_4783del c.2386_2389del (p.Gly796SerfsTer17) n.3953_3956del n.2637_2640del n.2128_2131del c.*210_*213del (n.*210_*213del) c.967_970del (p.Gly323SerfsTer17) c.3433_3436del (p.Gly1145SerfsTer17) c.199_202del n.4141_4144del c.3202_3205del (p.Gly1068SerfsTer17) c.3196_3199del (p.Gly1066SerfsTer17) | ClinVar |
16 | g.23603585A>C | CA494173647 | PALB2 | c.3441T>G (p.Gly1147=) c.*920T>G (n.*920T>G) c.*70T>G (n.*70T>G) c.3279T>G (p.Gly1093=) c.2550T>G (p.Gly850=) n.4782T>G c.2388T>G (p.Gly796=) n.3955T>G n.2639T>G n.2130T>G c.*212T>G (n.*212T>G) c.969T>G (p.Gly323=) c.3435T>G (p.Gly1145=) c.201T>G n.4143T>G c.3204T>G (p.Gly1068=) c.3198T>G (p.Gly1066=) | |
16 | g.23603585A>G | CA494173648 | PALB2 | c.3441T>C (p.Gly1147=) c.*920T>C (n.*920T>C) c.*70T>C (n.*70T>C) c.3279T>C (p.Gly1093=) c.2550T>C (p.Gly850=) n.4782T>C c.2388T>C (p.Gly796=) n.3955T>C n.2639T>C n.2130T>C c.*212T>C (n.*212T>C) c.969T>C (p.Gly323=) c.3435T>C (p.Gly1145=) c.201T>C n.4143T>C c.3204T>C (p.Gly1068=) c.3198T>C (p.Gly1066=) | dbSNP |
16 | g.23603585A>T | CA494173649 | PALB2 | c.3441T>A (p.Gly1147=) c.*920T>A (n.*920T>A) c.*70T>A (n.*70T>A) c.3279T>A (p.Gly1093=) c.2550T>A (p.Gly850=) n.4782T>A c.2388T>A (p.Gly796=) n.3955T>A n.2639T>A n.2130T>A c.*212T>A (n.*212T>A) c.969T>A (p.Gly323=) c.3435T>A (p.Gly1145=) c.201T>A n.4143T>A c.3204T>A (p.Gly1068=) c.3198T>A (p.Gly1066=) | dbSNP |
16 | g.23603586C>A | CA395138160 | PALB2 | c.3440G>T (p.Gly1147Val) c.*919G>T (n.*919G>T) c.*69G>T (n.*69G>T) c.3278G>T (p.Gly1093Val) c.2549G>T (p.Gly850Val) n.4781G>T c.2387G>T (p.Gly796Val) n.3954G>T n.2638G>T n.2129G>T c.*211G>T (n.*211G>T) c.968G>T (p.Gly323Val) c.3434G>T (p.Gly1145Val) c.200G>T n.4142G>T c.3203G>T (p.Gly1068Val) c.3197G>T (p.Gly1066Val) | ClinVar dbSNP |
16 | g.23603586C= | CA2213424451 | PALB2 | c.3440G= (p.Gly1147=) c.*919G= (n.*919G=) c.*69G= (n.*69G=) c.3278G= (p.Gly1093=) c.2549G= (p.Gly850=) n.4781G= c.2387G= (p.Gly796=) n.3954G= n.2638G= n.2129G= c.*211G= (n.*211G=) c.968G= (p.Gly323=) c.3434G= (p.Gly1145=) c.200G= n.4142G= c.3203G= (p.Gly1068=) c.3197G= (p.Gly1066=) | |
16 | g.23603586C>G | CA395138162 | PALB2 | c.3440G>C (p.Gly1147Ala) c.*919G>C (n.*919G>C) c.*69G>C (n.*69G>C) c.3278G>C (p.Gly1093Ala) c.2549G>C (p.Gly850Ala) n.4781G>C c.2387G>C (p.Gly796Ala) n.3954G>C n.2638G>C n.2129G>C c.*211G>C (n.*211G>C) c.968G>C (p.Gly323Ala) c.3434G>C (p.Gly1145Ala) c.200G>C n.4142G>C c.3203G>C (p.Gly1068Ala) c.3197G>C (p.Gly1066Ala) | dbSNP |
16 | g.23603586C>T | CA395138163 | PALB2 | c.3440G>A (p.Gly1147Asp) c.*919G>A (n.*919G>A) c.*69G>A (n.*69G>A) c.3278G>A (p.Gly1093Asp) c.2549G>A (p.Gly850Asp) n.4781G>A c.2387G>A (p.Gly796Asp) n.3954G>A n.2638G>A n.2129G>A c.*211G>A (n.*211G>A) c.968G>A (p.Gly323Asp) c.3434G>A (p.Gly1145Asp) c.200G>A n.4142G>A c.3203G>A (p.Gly1068Asp) c.3197G>A (p.Gly1066Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603587C>A | CA7963338 | PALB2 | c.3439G>T (p.Gly1147Cys) c.*918G>T (n.*918G>T) c.*68G>T (n.*68G>T) c.3277G>T (p.Gly1093Cys) c.2548G>T (p.Gly850Cys) n.4780G>T c.2386G>T (p.Gly796Cys) n.3953G>T n.2637G>T n.2128G>T c.*210G>T (n.*210G>T) c.967G>T (p.Gly323Cys) c.3433G>T (p.Gly1145Cys) c.199G>T n.4141G>T c.3202G>T (p.Gly1068Cys) c.3196G>T (p.Gly1066Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603587C= | CA2213424455 | PALB2 | c.3439G= (p.Gly1147=) c.*918G= (n.*918G=) c.*68G= (n.*68G=) c.3277G= (p.Gly1093=) c.2548G= (p.Gly850=) n.4780G= c.2386G= (p.Gly796=) n.3953G= n.2637G= n.2128G= c.*210G= (n.*210G=) c.967G= (p.Gly323=) c.3433G= (p.Gly1145=) c.199G= n.4141G= c.3202G= (p.Gly1068=) c.3196G= (p.Gly1066=) | |
16 | g.23603587C>G | CA269622 | PALB2 | c.3439G>C (p.Gly1147Arg) c.*918G>C (n.*918G>C) c.*68G>C (n.*68G>C) c.3277G>C (p.Gly1093Arg) c.2548G>C (p.Gly850Arg) n.4780G>C c.2386G>C (p.Gly796Arg) n.3953G>C n.2637G>C n.2128G>C c.*210G>C (n.*210G>C) c.967G>C (p.Gly323Arg) c.3433G>C (p.Gly1145Arg) c.199G>C n.4141G>C c.3202G>C (p.Gly1068Arg) c.3196G>C (p.Gly1066Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.23603587C>T | CA193870 | PALB2 | c.3439G>A (p.Gly1147Ser) c.*918G>A (n.*918G>A) c.*68G>A (n.*68G>A) c.3277G>A (p.Gly1093Ser) c.2548G>A (p.Gly850Ser) n.4780G>A c.2386G>A (p.Gly796Ser) n.3953G>A n.2637G>A n.2128G>A c.*210G>A (n.*210G>A) c.967G>A (p.Gly323Ser) c.3433G>A (p.Gly1145Ser) c.199G>A n.4141G>A c.3202G>A (p.Gly1068Ser) c.3196G>A (p.Gly1066Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.23603587_23603588insTCTC | CA2580610735 | PALB2 | c.3439_3440insAGAG (p.Gly1147GlufsTer13) c.*918_*919insAGAG (n.*918_*919insAGAG) c.*68_*69insAGAG (n.*68_*69insAGAG) c.3277_3278insAGAG (p.Gly1093GlufsTer13) c.2548_2549insAGAG (p.Gly850GlufsTer13) n.4780_4781insAGAG c.2386_2387insAGAG (p.Gly796GlufsTer13) n.3953_3954insAGAG n.2637_2638insAGAG n.2128_2129insAGAG c.*210_*211insAGAG (n.*210_*211insAGAG) c.967_968insAGAG (p.Gly323GlufsTer13) c.3433_3434insAGAG (p.Gly1145GlufsTer13) c.199_200insAGAG n.4141_4142insAGAG c.3202_3203insAGAG (p.Gly1068GlufsTer13) c.3196_3197insAGAG (p.Gly1066GlufsTer13) | |
16 | g.23603587_23603588delinsAT | CA658658452 | PALB2 | c.3438_3439delinsAT (p.Gly1147Cys) c.*917_*918delinsAT (n.*917_*918delinsAT) c.*67_*68delinsAT (n.*67_*68delinsAT) c.3276_3277delinsAT (p.Gly1093Cys) c.2547_2548delinsAT (p.Gly850Cys) n.4779_4780delinsAT c.2385_2386delinsAT (p.Gly796Cys) n.3952_3953delinsAT n.2636_2637delinsAT n.2127_2128delinsAT c.*209_*210delinsAT (n.*209_*210delinsAT) c.966_967delinsAT (p.Gly323Cys) c.3432_3433delinsAT (p.Gly1145Cys) c.198_199delinsAT n.4140_4141delinsAT c.3201_3202delinsAT (p.Gly1068Cys) c.3195_3196delinsAT (p.Gly1066Cys) | ClinVar dbSNP |
16 | g.23603587_23603588delinsCG | CA2213424456 | PALB2 | c.3438_3439delinsCG (p.Leu1146=) c.*917_*918delinsCG (n.*917_*918delinsCG) c.*67_*68delinsCG (n.*67_*68delinsCG) c.3276_3277delinsCG (p.Leu1092=) c.2547_2548delinsCG (p.Leu849=) n.4779_4780delinsCG c.2385_2386delinsCG (p.Leu795=) n.3952_3953delinsCG n.2636_2637delinsCG n.2127_2128delinsCG c.*209_*210delinsCG (n.*209_*210delinsCG) c.966_967delinsCG (p.Leu322=) c.3432_3433delinsCG (p.Leu1144=) c.198_199delinsCG n.4140_4141delinsCG c.3201_3202delinsCG (p.Leu1067=) c.3195_3196delinsCG (p.Leu1065=) | |
16 | g.23603588del | CA2697555780 | PALB2 | c.3438del (p.Gly1147ValfsTer18) c.*917del (n.*917del) c.*67del (n.*67del) c.3276del (p.Gly1093ValfsTer18) c.2547del (p.Gly850ValfsTer18) n.4779del c.2385del (p.Gly796ValfsTer18) n.3952del n.2636del n.2127del c.*209del (n.*209del) c.966del (p.Gly323ValfsTer18) c.3432del (p.Gly1145ValfsTer18) c.198del n.4140del c.3201del (p.Gly1068ValfsTer18) c.3195del (p.Gly1066ValfsTer18) | ClinVar |
16 | g.23603588G>A | CA7963339 | PALB2 | c.3438C>T (p.Leu1146=) c.*917C>T (n.*917C>T) c.*67C>T (n.*67C>T) c.3276C>T (p.Leu1092=) c.2547C>T (p.Leu849=) n.4779C>T c.2385C>T (p.Leu795=) n.3952C>T n.2636C>T n.2127C>T c.*209C>T (n.*209C>T) c.966C>T (p.Leu322=) c.3432C>T (p.Leu1144=) c.198C>T n.4140C>T c.3201C>T (p.Leu1067=) c.3195C>T (p.Leu1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603588G>C | CA7963340 | PALB2 | c.3438C>G (p.Leu1146=) c.*917C>G (n.*917C>G) c.*67C>G (n.*67C>G) c.3276C>G (p.Leu1092=) c.2547C>G (p.Leu849=) n.4779C>G c.2385C>G (p.Leu795=) n.3952C>G n.2636C>G n.2127C>G c.*209C>G (n.*209C>G) c.966C>G (p.Leu322=) c.3432C>G (p.Leu1144=) c.198C>G n.4140C>G c.3201C>G (p.Leu1067=) c.3195C>G (p.Leu1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603588G= | CA2213424461 | PALB2 | c.3438C= (p.Leu1146=) c.*917C= (n.*917C=) c.*67C= (n.*67C=) c.3276C= (p.Leu1092=) c.2547C= (p.Leu849=) n.4779C= c.2385C= (p.Leu795=) n.3952C= n.2636C= n.2127C= c.*209C= (n.*209C=) c.966C= (p.Leu322=) c.3432C= (p.Leu1144=) c.198C= n.4140C= c.3201C= (p.Leu1067=) c.3195C= (p.Leu1065=) | |
16 | g.23603588G>T | CA494173655 | PALB2 | c.3438C>A (p.Leu1146=) c.*917C>A (n.*917C>A) c.*67C>A (n.*67C>A) c.3276C>A (p.Leu1092=) c.2547C>A (p.Leu849=) n.4779C>A c.2385C>A (p.Leu795=) n.3952C>A n.2636C>A n.2127C>A c.*209C>A (n.*209C>A) c.966C>A (p.Leu322=) c.3432C>A (p.Leu1144=) c.198C>A n.4140C>A c.3201C>A (p.Leu1067=) c.3195C>A (p.Leu1065=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603589A= | CA2213424465 | PALB2 | c.3437T= (p.Leu1146=) c.*916T= (n.*916T=) c.*66T= (n.*66T=) c.3275T= (p.Leu1092=) c.2546T= (p.Leu849=) n.4778T= c.2384T= (p.Leu795=) n.3951T= n.2635T= n.2126T= c.*208T= (n.*208T=) c.965T= (p.Leu322=) c.3431T= (p.Leu1144=) c.197T= n.4139T= c.3200T= (p.Leu1067=) c.3194T= (p.Leu1065=) | |
16 | g.23603589A>C | CA395138169 | PALB2 | c.3437T>G (p.Leu1146Arg) c.*916T>G (n.*916T>G) c.*66T>G (n.*66T>G) c.3275T>G (p.Leu1092Arg) c.2546T>G (p.Leu849Arg) n.4778T>G c.2384T>G (p.Leu795Arg) n.3951T>G n.2635T>G n.2126T>G c.*208T>G (n.*208T>G) c.965T>G (p.Leu322Arg) c.3431T>G (p.Leu1144Arg) c.197T>G n.4139T>G c.3200T>G (p.Leu1067Arg) c.3194T>G (p.Leu1065Arg) | |
16 | g.23603589A>G | CA395138170 | PALB2 | c.3437T>C (p.Leu1146Pro) c.*916T>C (n.*916T>C) c.*66T>C (n.*66T>C) c.3275T>C (p.Leu1092Pro) c.2546T>C (p.Leu849Pro) n.4778T>C c.2384T>C (p.Leu795Pro) n.3951T>C n.2635T>C n.2126T>C c.*208T>C (n.*208T>C) c.965T>C (p.Leu322Pro) c.3431T>C (p.Leu1144Pro) c.197T>C n.4139T>C c.3200T>C (p.Leu1067Pro) c.3194T>C (p.Leu1065Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.23603589A>T | CA395138171 | PALB2 | c.3437T>A (p.Leu1146His) c.*916T>A (n.*916T>A) c.*66T>A (n.*66T>A) c.3275T>A (p.Leu1092His) c.2546T>A (p.Leu849His) n.4778T>A c.2384T>A (p.Leu795His) n.3951T>A n.2635T>A n.2126T>A c.*208T>A (n.*208T>A) c.965T>A (p.Leu322His) c.3431T>A (p.Leu1144His) c.197T>A n.4139T>A c.3200T>A (p.Leu1067His) c.3194T>A (p.Leu1065His) | dbSNP |
16 | g.23603590G>A | CA395138176 | PALB2 | c.3436C>T (p.Leu1146Phe) c.*915C>T (n.*915C>T) c.*65C>T (n.*65C>T) c.3274C>T (p.Leu1092Phe) c.2545C>T (p.Leu849Phe) n.4777C>T c.2383C>T (p.Leu795Phe) n.3950C>T n.2634C>T n.2125C>T c.*207C>T (n.*207C>T) c.964C>T (p.Leu322Phe) c.3430C>T (p.Leu1144Phe) c.196C>T n.4138C>T c.3199C>T (p.Leu1067Phe) c.3193C>T (p.Leu1065Phe) | dbSNP |
16 | g.23603590G>C | CA395138175 | PALB2 | c.3436C>G (p.Leu1146Val) c.*915C>G (n.*915C>G) c.*65C>G (n.*65C>G) c.3274C>G (p.Leu1092Val) c.2545C>G (p.Leu849Val) n.4777C>G c.2383C>G (p.Leu795Val) n.3950C>G n.2634C>G n.2125C>G c.*207C>G (n.*207C>G) c.964C>G (p.Leu322Val) c.3430C>G (p.Leu1144Val) c.196C>G n.4138C>G c.3199C>G (p.Leu1067Val) c.3193C>G (p.Leu1065Val) | ClinVar dbSNP gnomAD v4 |
16 | g.23603590G= | CA2213424467 | PALB2 | c.3436C= (p.Leu1146=) c.*915C= (n.*915C=) c.*65C= (n.*65C=) c.3274C= (p.Leu1092=) c.2545C= (p.Leu849=) n.4777C= c.2383C= (p.Leu795=) n.3950C= n.2634C= n.2125C= c.*207C= (n.*207C=) c.964C= (p.Leu322=) c.3430C= (p.Leu1144=) c.196C= n.4138C= c.3199C= (p.Leu1067=) c.3193C= (p.Leu1065=) | |
16 | g.23603590G>T | CA395138173 | PALB2 | c.3436C>A (p.Leu1146Ile) c.*915C>A (n.*915C>A) c.*65C>A (n.*65C>A) c.3274C>A (p.Leu1092Ile) c.2545C>A (p.Leu849Ile) n.4777C>A c.2383C>A (p.Leu795Ile) n.3950C>A n.2634C>A n.2125C>A c.*207C>A (n.*207C>A) c.964C>A (p.Leu322Ile) c.3430C>A (p.Leu1144Ile) c.196C>A n.4138C>A c.3199C>A (p.Leu1067Ile) c.3193C>A (p.Leu1065Ile) | ClinVar dbSNP |
16 | g.23603590_23603594delinsGAAGT | CA2213424468 | PALB2 | c.3432_3436delinsACTTC (p.Leu1144=) c.*911_*915delinsACTTC (n.*911_*915delinsACTTC) c.*61_*65delinsACTTC (n.*61_*65delinsACTTC) c.3270_3274delinsACTTC (p.Leu1090=) c.2541_2545delinsACTTC (p.Leu847=) n.4773_4777delinsACTTC c.2379_2383delinsACTTC (p.Leu793=) n.3946_3950delinsACTTC n.2630_2634delinsACTTC n.2121_2125delinsACTTC c.*203_*207delinsACTTC (n.*203_*207delinsACTTC) c.960_964delinsACTTC (p.Leu320=) c.3426_3430delinsACTTC (p.Leu1142=) c.192_196delinsACTTC n.4134_4138delinsACTTC c.3195_3199delinsACTTC (p.Leu1065=) c.3189_3193delinsACTTC (p.Leu1063=) | |
16 | g.23603591A>C | CA494173660 | PALB2 | c.3435T>G (p.Leu1145=) c.*914T>G (n.*914T>G) c.*64T>G (n.*64T>G) c.3273T>G (p.Leu1091=) c.2544T>G (p.Leu848=) n.4776T>G c.2382T>G (p.Leu794=) n.3949T>G n.2633T>G n.2124T>G c.*206T>G (n.*206T>G) c.963T>G (p.Leu321=) c.3429T>G (p.Leu1143=) c.195T>G n.4137T>G c.3198T>G (p.Leu1066=) c.3192T>G (p.Leu1064=) | |
16 | g.23603591A>G | CA494173662 | PALB2 | c.3435T>C (p.Leu1145=) c.*914T>C (n.*914T>C) c.*64T>C (n.*64T>C) c.3273T>C (p.Leu1091=) c.2544T>C (p.Leu848=) n.4776T>C c.2382T>C (p.Leu794=) n.3949T>C n.2633T>C n.2124T>C c.*206T>C (n.*206T>C) c.963T>C (p.Leu321=) c.3429T>C (p.Leu1143=) c.195T>C n.4137T>C c.3198T>C (p.Leu1066=) c.3192T>C (p.Leu1064=) | |
16 | g.23603591A>T | CA494173663 | PALB2 | c.3435T>A (p.Leu1145=) c.*914T>A (n.*914T>A) c.*64T>A (n.*64T>A) c.3273T>A (p.Leu1091=) c.2544T>A (p.Leu848=) n.4776T>A c.2382T>A (p.Leu794=) n.3949T>A n.2633T>A n.2124T>A c.*206T>A (n.*206T>A) c.963T>A (p.Leu321=) c.3429T>A (p.Leu1143=) c.195T>A n.4137T>A c.3198T>A (p.Leu1066=) c.3192T>A (p.Leu1064=) | |
16 | g.23603595_23603598del | CA192987 | PALB2 | c.3432_3435del (p.Leu1144PhefsTer20) c.*911_*914del (n.*911_*914del) c.*61_*64del (n.*61_*64del) c.3270_3273del (p.Leu1090PhefsTer20) c.2541_2544del (p.Leu847PhefsTer20) n.4773_4776del c.2379_2382del (p.Leu793PhefsTer20) n.3946_3949del n.2630_2633del n.2121_2124del c.*203_*206del (n.*203_*206del) c.960_963del (p.Leu320PhefsTer20) c.3426_3429del (p.Leu1142PhefsTer20) c.192_195del n.4134_4137del c.3195_3198del (p.Leu1065PhefsTer20) c.3189_3192del (p.Leu1063PhefsTer20) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603592A= | CA2213424471 | PALB2 | c.3434T= (p.Leu1145=) c.*913T= (n.*913T=) c.*63T= (n.*63T=) c.3272T= (p.Leu1091=) c.2543T= (p.Leu848=) n.4775T= c.2381T= (p.Leu794=) n.3948T= n.2632T= n.2123T= c.*205T= (n.*205T=) c.962T= (p.Leu321=) c.3428T= (p.Leu1143=) c.194T= n.4136T= c.3197T= (p.Leu1066=) c.3191T= (p.Leu1064=) | |
16 | g.23603592A>C | CA395138181 | PALB2 | c.3434T>G (p.Leu1145Arg) c.*913T>G (n.*913T>G) c.*63T>G (n.*63T>G) c.3272T>G (p.Leu1091Arg) c.2543T>G (p.Leu848Arg) n.4775T>G c.2381T>G (p.Leu794Arg) n.3948T>G n.2632T>G n.2123T>G c.*205T>G (n.*205T>G) c.962T>G (p.Leu321Arg) c.3428T>G (p.Leu1143Arg) c.194T>G n.4136T>G c.3197T>G (p.Leu1066Arg) c.3191T>G (p.Leu1064Arg) | |
16 | g.23603592A>G | CA269619 | PALB2 | c.3434T>C (p.Leu1145Pro) c.*913T>C (n.*913T>C) c.*63T>C (n.*63T>C) c.3272T>C (p.Leu1091Pro) c.2543T>C (p.Leu848Pro) n.4775T>C c.2381T>C (p.Leu794Pro) n.3948T>C n.2632T>C n.2123T>C c.*205T>C (n.*205T>C) c.962T>C (p.Leu321Pro) c.3428T>C (p.Leu1143Pro) c.194T>C n.4136T>C c.3197T>C (p.Leu1066Pro) c.3191T>C (p.Leu1064Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.23603592A>T | CA288478 | PALB2 | c.3434T>A (p.Leu1145His) c.*913T>A (n.*913T>A) c.*63T>A (n.*63T>A) c.3272T>A (p.Leu1091His) c.2543T>A (p.Leu848His) n.4775T>A c.2381T>A (p.Leu794His) n.3948T>A n.2632T>A n.2123T>A c.*205T>A (n.*205T>A) c.962T>A (p.Leu321His) c.3428T>A (p.Leu1143His) c.194T>A n.4136T>A c.3197T>A (p.Leu1066His) c.3191T>A (p.Leu1064His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603592_23603593delinsAG | CA2213424473 | PALB2 | c.3433_3434delinsCT (p.Leu1145=) c.*912_*913delinsCT (n.*912_*913delinsCT) c.*62_*63delinsCT (n.*62_*63delinsCT) c.3271_3272delinsCT (p.Leu1091=) c.2542_2543delinsCT (p.Leu848=) n.4774_4775delinsCT c.2380_2381delinsCT (p.Leu794=) n.3947_3948delinsCT n.2631_2632delinsCT n.2122_2123delinsCT c.*204_*205delinsCT (n.*204_*205delinsCT) c.961_962delinsCT (p.Leu321=) c.3427_3428delinsCT (p.Leu1143=) c.193_194delinsCT n.4135_4136delinsCT c.3196_3197delinsCT (p.Leu1066=) c.3190_3191delinsCT (p.Leu1064=) | |
16 | g.23603593del | CA7963341 | PALB2 | c.3433del (p.Leu1145PhefsTer20) c.*912del (n.*912del) c.*62del (n.*62del) c.3271del (p.Leu1091PhefsTer20) c.2542del (p.Leu848PhefsTer20) n.4774del c.2380del (p.Leu794PhefsTer20) n.3947del n.2631del n.2122del c.*204del (n.*204del) c.961del (p.Leu321PhefsTer20) c.3427del (p.Leu1143PhefsTer20) c.193del n.4135del c.3196del (p.Leu1066PhefsTer20) c.3190del (p.Leu1064PhefsTer20) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603593G>A | CA7963342 | PALB2 | c.3433C>T (p.Leu1145Phe) c.*912C>T (n.*912C>T) c.*62C>T (n.*62C>T) c.3271C>T (p.Leu1091Phe) c.2542C>T (p.Leu848Phe) n.4774C>T c.2380C>T (p.Leu794Phe) n.3947C>T n.2631C>T n.2122C>T c.*204C>T (n.*204C>T) c.961C>T (p.Leu321Phe) c.3427C>T (p.Leu1143Phe) c.193C>T n.4135C>T c.3196C>T (p.Leu1066Phe) c.3190C>T (p.Leu1064Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603593G>C | CA395138183 | PALB2 | c.3433C>G (p.Leu1145Val) c.*912C>G (n.*912C>G) c.*62C>G (n.*62C>G) c.3271C>G (p.Leu1091Val) c.2542C>G (p.Leu848Val) n.4774C>G c.2380C>G (p.Leu794Val) n.3947C>G n.2631C>G n.2122C>G c.*204C>G (n.*204C>G) c.961C>G (p.Leu321Val) c.3427C>G (p.Leu1143Val) c.193C>G n.4135C>G c.3196C>G (p.Leu1066Val) c.3190C>G (p.Leu1064Val) | ClinVar dbSNP |
16 | g.23603593G= | CA2213424476 | PALB2 | c.3433C= (p.Leu1145=) c.*912C= (n.*912C=) c.*62C= (n.*62C=) c.3271C= (p.Leu1091=) c.2542C= (p.Leu848=) n.4774C= c.2380C= (p.Leu794=) n.3947C= n.2631C= n.2122C= c.*204C= (n.*204C=) c.961C= (p.Leu321=) c.3427C= (p.Leu1143=) c.193C= n.4135C= c.3196C= (p.Leu1066=) c.3190C= (p.Leu1064=) | |
16 | g.23603593G>T | CA395138185 | PALB2 | c.3433C>A (p.Leu1145Ile) c.*912C>A (n.*912C>A) c.*62C>A (n.*62C>A) c.3271C>A (p.Leu1091Ile) c.2542C>A (p.Leu848Ile) n.4774C>A c.2380C>A (p.Leu794Ile) n.3947C>A n.2631C>A n.2122C>A c.*204C>A (n.*204C>A) c.961C>A (p.Leu321Ile) c.3427C>A (p.Leu1143Ile) c.193C>A n.4135C>A c.3196C>A (p.Leu1066Ile) c.3190C>A (p.Leu1064Ile) | dbSNP |
16 | g.23603594T>A | CA395138189 | PALB2 | c.3432A>T (p.Leu1144Phe) c.*911A>T (n.*911A>T) c.*61A>T (n.*61A>T) c.3270A>T (p.Leu1090Phe) c.2541A>T (p.Leu847Phe) n.4773A>T c.2379A>T (p.Leu793Phe) n.3946A>T n.2630A>T n.2121A>T c.*203A>T (n.*203A>T) c.960A>T (p.Leu320Phe) c.3426A>T (p.Leu1142Phe) c.192A>T n.4134A>T c.3195A>T (p.Leu1065Phe) c.3189A>T (p.Leu1063Phe) | dbSNP |
16 | g.23603594T>C | CA494173668 | PALB2 | c.3432A>G (p.Leu1144=) c.*911A>G (n.*911A>G) c.*61A>G (n.*61A>G) c.3270A>G (p.Leu1090=) c.2541A>G (p.Leu847=) n.4773A>G c.2379A>G (p.Leu793=) n.3946A>G n.2630A>G n.2121A>G c.*203A>G (n.*203A>G) c.960A>G (p.Leu320=) c.3426A>G (p.Leu1142=) c.192A>G n.4134A>G c.3195A>G (p.Leu1065=) c.3189A>G (p.Leu1063=) | |
16 | g.23603594T>G | CA395138191 | PALB2 | c.3432A>C (p.Leu1144Phe) c.*911A>C (n.*911A>C) c.*61A>C (n.*61A>C) c.3270A>C (p.Leu1090Phe) c.2541A>C (p.Leu847Phe) n.4773A>C c.2379A>C (p.Leu793Phe) n.3946A>C n.2630A>C n.2121A>C c.*203A>C (n.*203A>C) c.960A>C (p.Leu320Phe) c.3426A>C (p.Leu1142Phe) c.192A>C n.4134A>C c.3195A>C (p.Leu1065Phe) c.3189A>C (p.Leu1063Phe) | |
16 | g.23603594dup | CA294563 | PALB2 | c.3432dup (p.Leu1145ThrfsTer14) c.*911dup (n.*911dup) c.*61dup (n.*61dup) c.3270dup (p.Leu1091ThrfsTer14) c.2541dup (p.Leu848ThrfsTer14) n.4773dup c.2379dup (p.Leu794ThrfsTer14) n.3946dup n.2630dup n.2121dup c.*203dup (n.*203dup) c.960dup (p.Leu321ThrfsTer14) c.3426dup (p.Leu1143ThrfsTer14) c.192dup n.4134dup c.3195dup (p.Leu1066ThrfsTer14) c.3189dup (p.Leu1064ThrfsTer14) | ClinVar dbSNP |
16 | g.23603594_23603595delinsTA | CA2213424479 | PALB2 | c.3431_3432delinsTA (p.Leu1144=) c.*910_*911delinsTA (n.*910_*911delinsTA) c.*60_*61delinsTA (n.*60_*61delinsTA) c.3269_3270delinsTA (p.Leu1090=) c.2540_2541delinsTA (p.Leu847=) n.4772_4773delinsTA c.2378_2379delinsTA (p.Leu793=) n.3945_3946delinsTA n.2629_2630delinsTA n.2120_2121delinsTA c.*202_*203delinsTA (n.*202_*203delinsTA) c.959_960delinsTA (p.Leu320=) c.3425_3426delinsTA (p.Leu1142=) c.191_192delinsTA n.4133_4134delinsTA c.3194_3195delinsTA (p.Leu1065=) c.3188_3189delinsTA (p.Leu1063=) | |
16 | g.23603595A= | CA2213424483 | PALB2 | c.3431T= (p.Leu1144=) c.*910T= (n.*910T=) c.*60T= (n.*60T=) c.3269T= (p.Leu1090=) c.2540T= (p.Leu847=) n.4772T= c.2378T= (p.Leu793=) n.3945T= n.2629T= n.2120T= c.*202T= (n.*202T=) c.959T= (p.Leu320=) c.3425T= (p.Leu1142=) c.191T= n.4133T= c.3194T= (p.Leu1065=) c.3188T= (p.Leu1063=) | |
16 | g.23603595A>C | CA395138193 | PALB2 | c.3431T>G (p.Leu1144Ter) c.*910T>G (n.*910T>G) c.*60T>G (n.*60T>G) c.3269T>G (p.Leu1090Ter) c.2540T>G (p.Leu847Ter) n.4772T>G c.2378T>G (p.Leu793Ter) n.3945T>G n.2629T>G n.2120T>G c.*202T>G (n.*202T>G) c.959T>G (p.Leu320Ter) c.3425T>G (p.Leu1142Ter) c.191T>G n.4133T>G c.3194T>G (p.Leu1065Ter) c.3188T>G (p.Leu1063Ter) | ClinVar dbSNP |
16 | g.23603595A>G | CA395138195 | PALB2 | c.3431T>C (p.Leu1144Ser) c.*910T>C (n.*910T>C) c.*60T>C (n.*60T>C) c.3269T>C (p.Leu1090Ser) c.2540T>C (p.Leu847Ser) n.4772T>C c.2378T>C (p.Leu793Ser) n.3945T>C n.2629T>C n.2120T>C c.*202T>C (n.*202T>C) c.959T>C (p.Leu320Ser) c.3425T>C (p.Leu1142Ser) c.191T>C n.4133T>C c.3194T>C (p.Leu1065Ser) c.3188T>C (p.Leu1063Ser) | dbSNP |
16 | g.23603595A>T | CA395138197 | PALB2 | c.3431T>A (p.Leu1144Ter) c.*910T>A (n.*910T>A) c.*60T>A (n.*60T>A) c.3269T>A (p.Leu1090Ter) c.2540T>A (p.Leu847Ter) n.4772T>A c.2378T>A (p.Leu793Ter) n.3945T>A n.2629T>A n.2120T>A c.*202T>A (n.*202T>A) c.959T>A (p.Leu320Ter) c.3425T>A (p.Leu1142Ter) c.191T>A n.4133T>A c.3194T>A (p.Leu1065Ter) c.3188T>A (p.Leu1063Ter) | ClinVar dbSNP |
16 | g.23603596del | CA16042144 | PALB2 | c.3431del (p.Leu1144TyrfsTer21) c.*910del (n.*910del) c.*60del (n.*60del) c.3269del (p.Leu1090TyrfsTer21) c.2540del (p.Leu847TyrfsTer21) n.4772del c.2378del (p.Leu793TyrfsTer21) n.3945del n.2629del n.2120del c.*202del (n.*202del) c.959del (p.Leu320TyrfsTer21) c.3425del (p.Leu1142TyrfsTer21) c.191del n.4133del c.3194del (p.Leu1065TyrfsTer21) c.3188del (p.Leu1063TyrfsTer21) | ClinVar dbSNP |
16 | g.23603596A= | CA2213424486 | PALB2 | c.3430T= (p.Leu1144=) c.*909T= (n.*909T=) c.*59T= (n.*59T=) c.3268T= (p.Leu1090=) c.2539T= (p.Leu847=) n.4771T= c.2377T= (p.Leu793=) n.3944T= n.2628T= n.2119T= c.*201T= (n.*201T=) c.958T= (p.Leu320=) c.3424T= (p.Leu1142=) c.190T= n.4132T= c.3193T= (p.Leu1065=) c.3187T= (p.Leu1063=) | |
16 | g.23603596A>C | CA395138199 | PALB2 | c.3430T>G (p.Leu1144Val) c.*909T>G (n.*909T>G) c.*59T>G (n.*59T>G) c.3268T>G (p.Leu1090Val) c.2539T>G (p.Leu847Val) n.4771T>G c.2377T>G (p.Leu793Val) n.3944T>G n.2628T>G n.2119T>G c.*201T>G (n.*201T>G) c.958T>G (p.Leu320Val) c.3424T>G (p.Leu1142Val) c.190T>G n.4132T>G c.3193T>G (p.Leu1065Val) c.3187T>G (p.Leu1063Val) | |
16 | g.23603596A>G | CA494173669 | PALB2 | c.3430T>C (p.Leu1144=) c.*909T>C (n.*909T>C) c.*59T>C (n.*59T>C) c.3268T>C (p.Leu1090=) c.2539T>C (p.Leu847=) n.4771T>C c.2377T>C (p.Leu793=) n.3944T>C n.2628T>C n.2119T>C c.*201T>C (n.*201T>C) c.958T>C (p.Leu320=) c.3424T>C (p.Leu1142=) c.190T>C n.4132T>C c.3193T>C (p.Leu1065=) c.3187T>C (p.Leu1063=) | dbSNP |
16 | g.23603596A>T | CA395138201 | PALB2 | c.3430T>A (p.Leu1144Ile) c.*909T>A (n.*909T>A) c.*59T>A (n.*59T>A) c.3268T>A (p.Leu1090Ile) c.2539T>A (p.Leu847Ile) n.4771T>A c.2377T>A (p.Leu793Ile) n.3944T>A n.2628T>A n.2119T>A c.*201T>A (n.*201T>A) c.958T>A (p.Leu320Ile) c.3424T>A (p.Leu1142Ile) c.190T>A n.4132T>A c.3193T>A (p.Leu1065Ile) c.3187T>A (p.Leu1063Ile) | ClinVar dbSNP |
16 | g.23603597G>A | CA494173672 | PALB2 | c.3429C>T (p.Asp1143=) c.*908C>T (n.*908C>T) c.*58C>T (n.*58C>T) c.3267C>T (p.Asp1089=) c.2538C>T (p.Asp846=) n.4770C>T c.2376C>T (p.Asp792=) n.3943C>T n.2627C>T n.2118C>T c.*200C>T (n.*200C>T) c.957C>T (p.Asp319=) c.3423C>T (p.Asp1141=) c.189C>T n.4131C>T c.3192C>T (p.Asp1064=) c.3186C>T (p.Asp1062=) | ClinVar |
16 | g.23603597G>C | CA395138202 | PALB2 | c.3429C>G (p.Asp1143Glu) c.*908C>G (n.*908C>G) c.*58C>G (n.*58C>G) c.3267C>G (p.Asp1089Glu) c.2538C>G (p.Asp846Glu) n.4770C>G c.2376C>G (p.Asp792Glu) n.3943C>G n.2627C>G n.2118C>G c.*200C>G (n.*200C>G) c.957C>G (p.Asp319Glu) c.3423C>G (p.Asp1141Glu) c.189C>G n.4131C>G c.3192C>G (p.Asp1064Glu) c.3186C>G (p.Asp1062Glu) | dbSNP |
16 | g.23603597G>T | CA395138204 | PALB2 | c.3429C>A (p.Asp1143Glu) c.*908C>A (n.*908C>A) c.*58C>A (n.*58C>A) c.3267C>A (p.Asp1089Glu) c.2538C>A (p.Asp846Glu) n.4770C>A c.2376C>A (p.Asp792Glu) n.3943C>A n.2627C>A n.2118C>A c.*200C>A (n.*200C>A) c.957C>A (p.Asp319Glu) c.3423C>A (p.Asp1141Glu) c.189C>A n.4131C>A c.3192C>A (p.Asp1064Glu) c.3186C>A (p.Asp1062Glu) | |
16 | g.23603598T>A | CA395138205 | PALB2 | c.3428A>T (p.Asp1143Val) c.*907A>T (n.*907A>T) c.*57A>T (n.*57A>T) c.3266A>T (p.Asp1089Val) c.2537A>T (p.Asp846Val) n.4769A>T c.2375A>T (p.Asp792Val) n.3942A>T n.2626A>T n.2117A>T c.*199A>T (n.*199A>T) c.956A>T (p.Asp319Val) c.3422A>T (p.Asp1141Val) c.188A>T n.4130A>T c.3191A>T (p.Asp1064Val) c.3185A>T (p.Asp1062Val) | dbSNP |
16 | g.23603598T>C | CA395138206 | PALB2 | c.3428A>G (p.Asp1143Gly) c.*907A>G (n.*907A>G) c.*57A>G (n.*57A>G) c.3266A>G (p.Asp1089Gly) c.2537A>G (p.Asp846Gly) n.4769A>G c.2375A>G (p.Asp792Gly) n.3942A>G n.2626A>G n.2117A>G c.*199A>G (n.*199A>G) c.956A>G (p.Asp319Gly) c.3422A>G (p.Asp1141Gly) c.188A>G n.4130A>G c.3191A>G (p.Asp1064Gly) c.3185A>G (p.Asp1062Gly) | ClinVar |
16 | g.23603598T>G | CA395138207 | PALB2 | c.3428A>C (p.Asp1143Ala) c.*907A>C (n.*907A>C) c.*57A>C (n.*57A>C) c.3266A>C (p.Asp1089Ala) c.2537A>C (p.Asp846Ala) n.4769A>C c.2375A>C (p.Asp792Ala) n.3942A>C n.2626A>C n.2117A>C c.*199A>C (n.*199A>C) c.956A>C (p.Asp319Ala) c.3422A>C (p.Asp1141Ala) c.188A>C n.4130A>C c.3191A>C (p.Asp1064Ala) c.3185A>C (p.Asp1062Ala) | |
16 | g.23603599C>A | CA395138208 | PALB2 | c.3427G>T (p.Asp1143Tyr) c.*906G>T (n.*906G>T) c.*56G>T (n.*56G>T) c.3265G>T (p.Asp1089Tyr) c.2536G>T (p.Asp846Tyr) n.4768G>T c.2374G>T (p.Asp792Tyr) n.3941G>T n.2625G>T n.2116G>T c.*198G>T (n.*198G>T) c.955G>T (p.Asp319Tyr) c.3421G>T (p.Asp1141Tyr) c.187G>T n.4129G>T c.3190G>T (p.Asp1064Tyr) c.3184G>T (p.Asp1062Tyr) | dbSNP |
16 | g.23603599C= | CA2213424488 | PALB2 | c.3427G= (p.Asp1143=) c.*906G= (n.*906G=) c.*56G= (n.*56G=) c.3265G= (p.Asp1089=) c.2536G= (p.Asp846=) n.4768G= c.2374G= (p.Asp792=) n.3941G= n.2625G= n.2116G= c.*198G= (n.*198G=) c.955G= (p.Asp319=) c.3421G= (p.Asp1141=) c.187G= n.4129G= c.3190G= (p.Asp1064=) c.3184G= (p.Asp1062=) | |
16 | g.23603599C>G | CA395138209 | PALB2 | c.3427G>C (p.Asp1143His) c.*906G>C (n.*906G>C) c.*56G>C (n.*56G>C) c.3265G>C (p.Asp1089His) c.2536G>C (p.Asp846His) n.4768G>C c.2374G>C (p.Asp792His) n.3941G>C n.2625G>C n.2116G>C c.*198G>C (n.*198G>C) c.955G>C (p.Asp319His) c.3421G>C (p.Asp1141His) c.187G>C n.4129G>C c.3190G>C (p.Asp1064His) c.3184G>C (p.Asp1062His) | ClinVar dbSNP |
16 | g.23603599C>T | CA16620112 | PALB2 | c.3427G>A (p.Asp1143Asn) c.*906G>A (n.*906G>A) c.*56G>A (n.*56G>A) c.3265G>A (p.Asp1089Asn) c.2536G>A (p.Asp846Asn) n.4768G>A c.2374G>A (p.Asp792Asn) n.3941G>A n.2625G>A n.2116G>A c.*198G>A (n.*198G>A) c.955G>A (p.Asp319Asn) c.3421G>A (p.Asp1141Asn) c.187G>A n.4129G>A c.3190G>A (p.Asp1064Asn) c.3184G>A (p.Asp1062Asn) | ClinVar dbSNP |
16 | g.23603600C>A | CA395138210 | PALB2 | c.3426G>T (p.Trp1142Cys) c.*905G>T (n.*905G>T) c.*55G>T (n.*55G>T) c.3264G>T (p.Trp1088Cys) c.2535G>T (p.Trp845Cys) n.4767G>T c.2373G>T (p.Trp791Cys) n.3940G>T n.2624G>T n.2115G>T c.*197G>T (n.*197G>T) c.954G>T (p.Trp318Cys) c.3420G>T (p.Trp1140Cys) c.186G>T n.4128G>T c.3189G>T (p.Trp1063Cys) c.3183G>T (p.Trp1061Cys) | ClinVar dbSNP |
16 | g.23603600C= | CA2213424491 | PALB2 | c.3426G= (p.Trp1142=) c.*905G= (n.*905G=) c.*55G= (n.*55G=) c.3264G= (p.Trp1088=) c.2535G= (p.Trp845=) n.4767G= c.2373G= (p.Trp791=) n.3940G= n.2624G= n.2115G= c.*197G= (n.*197G=) c.954G= (p.Trp318=) c.3420G= (p.Trp1140=) c.186G= n.4128G= c.3189G= (p.Trp1063=) c.3183G= (p.Trp1061=) | |
16 | g.23603600C>G | CA395138211 | PALB2 | c.3426G>C (p.Trp1142Cys) c.*905G>C (n.*905G>C) c.*55G>C (n.*55G>C) c.3264G>C (p.Trp1088Cys) c.2535G>C (p.Trp845Cys) n.4767G>C c.2373G>C (p.Trp791Cys) n.3940G>C n.2624G>C n.2115G>C c.*197G>C (n.*197G>C) c.954G>C (p.Trp318Cys) c.3420G>C (p.Trp1140Cys) c.186G>C n.4128G>C c.3189G>C (p.Trp1063Cys) c.3183G>C (p.Trp1061Cys) | dbSNP |
16 | g.23603600C>T | CA10583349 | PALB2 | c.3426G>A (p.Trp1142Ter) c.*905G>A (n.*905G>A) c.*55G>A (n.*55G>A) c.3264G>A (p.Trp1088Ter) c.2535G>A (p.Trp845Ter) n.4767G>A c.2373G>A (p.Trp791Ter) n.3940G>A n.2624G>A n.2115G>A c.*197G>A (n.*197G>A) c.954G>A (p.Trp318Ter) c.3420G>A (p.Trp1140Ter) c.186G>A n.4128G>A c.3189G>A (p.Trp1063Ter) c.3183G>A (p.Trp1061Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.23603601C>A | CA395138213 | PALB2 | c.3425G>T (p.Trp1142Leu) c.*904G>T (n.*904G>T) c.*54G>T (n.*54G>T) c.3263G>T (p.Trp1088Leu) c.2534G>T (p.Trp845Leu) n.4766G>T c.2372G>T (p.Trp791Leu) n.3939G>T n.2623G>T n.2114G>T c.*196G>T (n.*196G>T) c.953G>T (p.Trp318Leu) c.3419G>T (p.Trp1140Leu) c.185G>T n.4127G>T c.3188G>T (p.Trp1063Leu) c.3182G>T (p.Trp1061Leu) | dbSNP |
16 | g.23603601C= | CA2213424494 | PALB2 | c.3425G= (p.Trp1142=) c.*904G= (n.*904G=) c.*54G= (n.*54G=) c.3263G= (p.Trp1088=) c.2534G= (p.Trp845=) n.4766G= c.2372G= (p.Trp791=) n.3939G= n.2623G= n.2114G= c.*196G= (n.*196G=) c.953G= (p.Trp318=) c.3419G= (p.Trp1140=) c.185G= n.4127G= c.3188G= (p.Trp1063=) c.3182G= (p.Trp1061=) | |
16 | g.23603601C>G | CA16615061 | PALB2 | c.3425G>C (p.Trp1142Ser) c.*904G>C (n.*904G>C) c.*54G>C (n.*54G>C) c.3263G>C (p.Trp1088Ser) c.2534G>C (p.Trp845Ser) n.4766G>C c.2372G>C (p.Trp791Ser) n.3939G>C n.2623G>C n.2114G>C c.*196G>C (n.*196G>C) c.953G>C (p.Trp318Ser) c.3419G>C (p.Trp1140Ser) c.185G>C n.4127G>C c.3188G>C (p.Trp1063Ser) c.3182G>C (p.Trp1061Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603601C>T | CA395138212 | PALB2 | c.3425G>A (p.Trp1142Ter) c.*904G>A (n.*904G>A) c.*54G>A (n.*54G>A) c.3263G>A (p.Trp1088Ter) c.2534G>A (p.Trp845Ter) n.4766G>A c.2372G>A (p.Trp791Ter) n.3939G>A n.2623G>A n.2114G>A c.*196G>A (n.*196G>A) c.953G>A (p.Trp318Ter) c.3419G>A (p.Trp1140Ter) c.185G>A n.4127G>A c.3188G>A (p.Trp1063Ter) c.3182G>A (p.Trp1061Ter) | ClinVar dbSNP |
16 | g.23603602A= | CA2213424496 | PALB2 | c.3424T= (p.Trp1142=) c.*903T= (n.*903T=) c.*53T= (n.*53T=) c.3262T= (p.Trp1088=) c.2533T= (p.Trp845=) n.4765T= c.2371T= (p.Trp791=) n.3938T= n.2622T= n.2113T= c.*195T= (n.*195T=) c.952T= (p.Trp318=) c.3418T= (p.Trp1140=) c.184T= n.4126T= c.3187T= (p.Trp1063=) c.3181T= (p.Trp1061=) | |
16 | g.23603602A>C | CA186642 | PALB2 | c.3424T>G (p.Trp1142Gly) c.*903T>G (n.*903T>G) c.*53T>G (n.*53T>G) c.3262T>G (p.Trp1088Gly) c.2533T>G (p.Trp845Gly) n.4765T>G c.2371T>G (p.Trp791Gly) n.3938T>G n.2622T>G n.2113T>G c.*195T>G (n.*195T>G) c.952T>G (p.Trp318Gly) c.3418T>G (p.Trp1140Gly) c.184T>G n.4126T>G c.3187T>G (p.Trp1063Gly) c.3181T>G (p.Trp1061Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.23603602A>G | CA395138214 | PALB2 | c.3424T>C (p.Trp1142Arg) c.*903T>C (n.*903T>C) c.*53T>C (n.*53T>C) c.3262T>C (p.Trp1088Arg) c.2533T>C (p.Trp845Arg) n.4765T>C c.2371T>C (p.Trp791Arg) n.3938T>C n.2622T>C n.2113T>C c.*195T>C (n.*195T>C) c.952T>C (p.Trp318Arg) c.3418T>C (p.Trp1140Arg) c.184T>C n.4126T>C c.3187T>C (p.Trp1063Arg) c.3181T>C (p.Trp1061Arg) | ClinVar dbSNP |
16 | g.23603602A>T | CA395138215 | PALB2 | c.3424T>A (p.Trp1142Arg) c.*903T>A (n.*903T>A) c.*53T>A (n.*53T>A) c.3262T>A (p.Trp1088Arg) c.2533T>A (p.Trp845Arg) n.4765T>A c.2371T>A (p.Trp791Arg) n.3938T>A n.2622T>A n.2113T>A c.*195T>A (n.*195T>A) c.952T>A (p.Trp318Arg) c.3418T>A (p.Trp1140Arg) c.184T>A n.4126T>A c.3187T>A (p.Trp1063Arg) c.3181T>A (p.Trp1061Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603604dup | CA2695222896 | PALB2 | c.3424dup (p.Trp1142LeufsTer17) c.*903dup (n.*903dup) c.*53dup (n.*53dup) c.3262dup (p.Trp1088LeufsTer17) c.2533dup (p.Trp845LeufsTer17) n.4765dup c.2371dup (p.Trp791LeufsTer17) n.3938dup n.2622dup n.2113dup c.*195dup (n.*195dup) c.952dup (p.Trp318LeufsTer17) c.3418dup (p.Trp1140LeufsTer17) c.184dup n.4126dup c.3187dup (p.Trp1063LeufsTer17) c.3181dup (p.Trp1061LeufsTer17) | |
16 | g.23603604del | CA923726383 | PALB2 | c.3424del (p.Trp1142GlyfsTer23) c.*903del (n.*903del) c.*53del (n.*53del) c.3262del (p.Trp1088GlyfsTer23) c.2533del (p.Trp845GlyfsTer23) n.4765del c.2371del (p.Trp791GlyfsTer23) n.3938del n.2622del n.2113del c.*195del (n.*195del) c.952del (p.Trp318GlyfsTer23) c.3418del (p.Trp1140GlyfsTer23) c.184del n.4126del c.3187del (p.Trp1063GlyfsTer23) c.3181del (p.Trp1061GlyfsTer23) | ClinVar dbSNP |
16 | g.23603603A= | CA2213424498 | PALB2 | c.3423T= (p.Ile1141=) c.*902T= (n.*902T=) c.*52T= (n.*52T=) c.3261T= (p.Ile1087=) c.2532T= (p.Ile844=) n.4764T= c.2370T= (p.Ile790=) n.3937T= n.2621T= n.2112T= c.*194T= (n.*194T=) c.951T= (p.Ile317=) c.3417T= (p.Ile1139=) c.183T= n.4125T= c.3186T= (p.Ile1062=) c.3180T= (p.Ile1060=) | |
16 | g.23603603A>C | CA10579915 | PALB2 | c.3423T>G (p.Ile1141Met) c.*902T>G (n.*902T>G) c.*52T>G (n.*52T>G) c.3261T>G (p.Ile1087Met) c.2532T>G (p.Ile844Met) n.4764T>G c.2370T>G (p.Ile790Met) n.3937T>G n.2621T>G n.2112T>G c.*194T>G (n.*194T>G) c.951T>G (p.Ile317Met) c.3417T>G (p.Ile1139Met) c.183T>G n.4125T>G c.3186T>G (p.Ile1062Met) c.3180T>G (p.Ile1060Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603603A>G | CA494173681 | PALB2 | c.3423T>C (p.Ile1141=) c.*902T>C (n.*902T>C) c.*52T>C (n.*52T>C) c.3261T>C (p.Ile1087=) c.2532T>C (p.Ile844=) n.4764T>C c.2370T>C (p.Ile790=) n.3937T>C n.2621T>C n.2112T>C c.*194T>C (n.*194T>C) c.951T>C (p.Ile317=) c.3417T>C (p.Ile1139=) c.183T>C n.4125T>C c.3186T>C (p.Ile1062=) c.3180T>C (p.Ile1060=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603603A>T | CA494173679 | PALB2 | c.3423T>A (p.Ile1141=) c.*902T>A (n.*902T>A) c.*52T>A (n.*52T>A) c.3261T>A (p.Ile1087=) c.2532T>A (p.Ile844=) n.4764T>A c.2370T>A (p.Ile790=) n.3937T>A n.2621T>A n.2112T>A c.*194T>A (n.*194T>A) c.951T>A (p.Ile317=) c.3417T>A (p.Ile1139=) c.183T>A n.4125T>A c.3186T>A (p.Ile1062=) c.3180T>A (p.Ile1060=) | |
16 | g.23603604A>C | CA395138216 | PALB2 | c.3422T>G (p.Ile1141Ser) c.*901T>G (n.*901T>G) c.*51T>G (n.*51T>G) c.3260T>G (p.Ile1087Ser) c.2531T>G (p.Ile844Ser) n.4763T>G c.2369T>G (p.Ile790Ser) n.3936T>G n.2620T>G n.2111T>G c.*193T>G (n.*193T>G) c.950T>G (p.Ile317Ser) c.3416T>G (p.Ile1139Ser) c.182T>G n.4124T>G c.3185T>G (p.Ile1062Ser) c.3179T>G (p.Ile1060Ser) | dbSNP |
16 | g.23603604A>G | CA395138217 | PALB2 | c.3422T>C (p.Ile1141Thr) c.*901T>C (n.*901T>C) c.*51T>C (n.*51T>C) c.3260T>C (p.Ile1087Thr) c.2531T>C (p.Ile844Thr) n.4763T>C c.2369T>C (p.Ile790Thr) n.3936T>C n.2620T>C n.2111T>C c.*193T>C (n.*193T>C) c.950T>C (p.Ile317Thr) c.3416T>C (p.Ile1139Thr) c.182T>C n.4124T>C c.3185T>C (p.Ile1062Thr) c.3179T>C (p.Ile1060Thr) | ClinVar |
16 | g.23603604A>T | CA395138218 | PALB2 | c.3422T>A (p.Ile1141Asn) c.*901T>A (n.*901T>A) c.*51T>A (n.*51T>A) c.3260T>A (p.Ile1087Asn) c.2531T>A (p.Ile844Asn) n.4763T>A c.2369T>A (p.Ile790Asn) n.3936T>A n.2620T>A n.2111T>A c.*193T>A (n.*193T>A) c.950T>A (p.Ile317Asn) c.3416T>A (p.Ile1139Asn) c.182T>A n.4124T>A c.3185T>A (p.Ile1062Asn) c.3179T>A (p.Ile1060Asn) | dbSNP |
16 | g.23603605T>A | CA395138219 | PALB2 | c.3421A>T (p.Ile1141Phe) c.*900A>T (n.*900A>T) c.*50A>T (n.*50A>T) c.3259A>T (p.Ile1087Phe) c.2530A>T (p.Ile844Phe) n.4762A>T c.2368A>T (p.Ile790Phe) n.3935A>T n.2619A>T n.2110A>T c.*192A>T (n.*192A>T) c.949A>T (p.Ile317Phe) c.3415A>T (p.Ile1139Phe) c.181A>T n.4123A>T c.3184A>T (p.Ile1062Phe) c.3178A>T (p.Ile1060Phe) | ClinVar dbSNP |
16 | g.23603605T>C | CA395138220 | PALB2 | c.3421A>G (p.Ile1141Val) c.*900A>G (n.*900A>G) c.*50A>G (n.*50A>G) c.3259A>G (p.Ile1087Val) c.2530A>G (p.Ile844Val) n.4762A>G c.2368A>G (p.Ile790Val) n.3935A>G n.2619A>G n.2110A>G c.*192A>G (n.*192A>G) c.949A>G (p.Ile317Val) c.3415A>G (p.Ile1139Val) c.181A>G n.4123A>G c.3184A>G (p.Ile1062Val) c.3178A>G (p.Ile1060Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603605T>G | CA395138221 | PALB2 | c.3421A>C (p.Ile1141Leu) c.*900A>C (n.*900A>C) c.*50A>C (n.*50A>C) c.3259A>C (p.Ile1087Leu) c.2530A>C (p.Ile844Leu) n.4762A>C c.2368A>C (p.Ile790Leu) n.3935A>C n.2619A>C n.2110A>C c.*192A>C (n.*192A>C) c.949A>C (p.Ile317Leu) c.3415A>C (p.Ile1139Leu) c.181A>C n.4123A>C c.3184A>C (p.Ile1062Leu) c.3178A>C (p.Ile1060Leu) | ClinVar dbSNP |
16 | g.23603605T= | CA2213424501 | PALB2 | c.3421A= (p.Ile1141=) c.*900A= (n.*900A=) c.*50A= (n.*50A=) c.3259A= (p.Ile1087=) c.2530A= (p.Ile844=) n.4762A= c.2368A= (p.Ile790=) n.3935A= n.2619A= n.2110A= c.*192A= (n.*192A=) c.949A= (p.Ile317=) c.3415A= (p.Ile1139=) c.181A= n.4123A= c.3184A= (p.Ile1062=) c.3178A= (p.Ile1060=) | |
16 | g.23603606G>A | CA494173683 | PALB2 | c.3420C>T (p.Ala1140=) c.*899C>T (n.*899C>T) c.*49C>T (n.*49C>T) c.3258C>T (p.Ala1086=) c.2529C>T (p.Ala843=) n.4761C>T c.2367C>T (p.Ala789=) n.3934C>T n.2618C>T n.2109C>T c.*191C>T (n.*191C>T) c.948C>T (p.Ala316=) c.3414C>T (p.Ala1138=) c.180C>T n.4122C>T c.3183C>T (p.Ala1061=) c.3177C>T (p.Ala1059=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603606G>C | CA494173684 | PALB2 | c.3420C>G (p.Ala1140=) c.*899C>G (n.*899C>G) c.*49C>G (n.*49C>G) c.3258C>G (p.Ala1086=) c.2529C>G (p.Ala843=) n.4761C>G c.2367C>G (p.Ala789=) n.3934C>G n.2618C>G n.2109C>G c.*191C>G (n.*191C>G) c.948C>G (p.Ala316=) c.3414C>G (p.Ala1138=) c.180C>G n.4122C>G c.3183C>G (p.Ala1061=) c.3177C>G (p.Ala1059=) | dbSNP |
16 | g.23603606G>T | CA494173685 | PALB2 | c.3420C>A (p.Ala1140=) c.*899C>A (n.*899C>A) c.*49C>A (n.*49C>A) c.3258C>A (p.Ala1086=) c.2529C>A (p.Ala843=) n.4761C>A c.2367C>A (p.Ala789=) n.3934C>A n.2618C>A n.2109C>A c.*191C>A (n.*191C>A) c.948C>A (p.Ala316=) c.3414C>A (p.Ala1138=) c.180C>A n.4122C>A c.3183C>A (p.Ala1061=) c.3177C>A (p.Ala1059=) | |
16 | g.23603606_23603607delinsAT | CA2697555781 | PALB2 | c.3419_3420delinsAT (p.Ala1140Asp) c.*898_*899delinsAT (n.*898_*899delinsAT) c.*48_*49delinsAT (n.*48_*49delinsAT) c.3257_3258delinsAT (p.Ala1086Asp) c.2528_2529delinsAT (p.Ala843Asp) n.4760_4761delinsAT c.2366_2367delinsAT (p.Ala789Asp) n.3933_3934delinsAT n.2617_2618delinsAT n.2108_2109delinsAT c.*190_*191delinsAT (n.*190_*191delinsAT) c.947_948delinsAT (p.Ala316Asp) c.3413_3414delinsAT (p.Ala1138Asp) c.179_180delinsAT n.4121_4122delinsAT c.3182_3183delinsAT (p.Ala1061Asp) c.3176_3177delinsAT (p.Ala1059Asp) | ClinVar |
16 | g.23603607G>A | CA395138222 | PALB2 | c.3419C>T (p.Ala1140Val) c.*898C>T (n.*898C>T) c.*48C>T (n.*48C>T) c.3257C>T (p.Ala1086Val) c.2528C>T (p.Ala843Val) n.4760C>T c.2366C>T (p.Ala789Val) n.3933C>T n.2617C>T n.2108C>T c.*190C>T (n.*190C>T) c.947C>T (p.Ala316Val) c.3413C>T (p.Ala1138Val) c.179C>T n.4121C>T c.3182C>T (p.Ala1061Val) c.3176C>T (p.Ala1059Val) | dbSNP |
16 | g.23603607G>C | CA395138223 | PALB2 | c.3419C>G (p.Ala1140Gly) c.*898C>G (n.*898C>G) c.*48C>G (n.*48C>G) c.3257C>G (p.Ala1086Gly) c.2528C>G (p.Ala843Gly) n.4760C>G c.2366C>G (p.Ala789Gly) n.3933C>G n.2617C>G n.2108C>G c.*190C>G (n.*190C>G) c.947C>G (p.Ala316Gly) c.3413C>G (p.Ala1138Gly) c.179C>G n.4121C>G c.3182C>G (p.Ala1061Gly) c.3176C>G (p.Ala1059Gly) | ClinVar dbSNP |
16 | g.23603607G= | CA2213424504 | PALB2 | c.3419C= (p.Ala1140=) c.*898C= (n.*898C=) c.*48C= (n.*48C=) c.3257C= (p.Ala1086=) c.2528C= (p.Ala843=) n.4760C= c.2366C= (p.Ala789=) n.3933C= n.2617C= n.2108C= c.*190C= (n.*190C=) c.947C= (p.Ala316=) c.3413C= (p.Ala1138=) c.179C= n.4121C= c.3182C= (p.Ala1061=) c.3176C= (p.Ala1059=) | |
16 | g.23603607G>T | CA395138224 | PALB2 | c.3419C>A (p.Ala1140Asp) c.*898C>A (n.*898C>A) c.*48C>A (n.*48C>A) c.3257C>A (p.Ala1086Asp) c.2528C>A (p.Ala843Asp) n.4760C>A c.2366C>A (p.Ala789Asp) n.3933C>A n.2617C>A n.2108C>A c.*190C>A (n.*190C>A) c.947C>A (p.Ala316Asp) c.3413C>A (p.Ala1138Asp) c.179C>A n.4121C>A c.3182C>A (p.Ala1061Asp) c.3176C>A (p.Ala1059Asp) | |
16 | g.23603608del | CA2695197581 | PALB2 | c.3418del (p.Ala1140ProfsTer25) c.*897del (n.*897del) c.*47del (n.*47del) c.3256del (p.Ala1086ProfsTer25) c.2527del (p.Ala843ProfsTer25) n.4759del c.2365del (p.Ala789ProfsTer25) n.3932del n.2616del n.2107del c.*189del (n.*189del) c.946del (p.Ala316ProfsTer25) c.3412del (p.Ala1138ProfsTer25) c.178del n.4120del c.3181del (p.Ala1061ProfsTer25) c.3175del (p.Ala1059ProfsTer25) | ClinVar |
16 | g.23603608C>A | CA395138226 | PALB2 | c.3418G>T (p.Ala1140Ser) c.*897G>T (n.*897G>T) c.*47G>T (n.*47G>T) c.3256G>T (p.Ala1086Ser) c.2527G>T (p.Ala843Ser) n.4759G>T c.2365G>T (p.Ala789Ser) n.3932G>T n.2616G>T n.2107G>T c.*189G>T (n.*189G>T) c.946G>T (p.Ala316Ser) c.3412G>T (p.Ala1138Ser) c.178G>T n.4120G>T c.3181G>T (p.Ala1061Ser) c.3175G>T (p.Ala1059Ser) | dbSNP |
16 | g.23603608C= | CA2213424506 | PALB2 | c.3418G= (p.Ala1140=) c.*897G= (n.*897G=) c.*47G= (n.*47G=) c.3256G= (p.Ala1086=) c.2527G= (p.Ala843=) n.4759G= c.2365G= (p.Ala789=) n.3932G= n.2616G= n.2107G= c.*189G= (n.*189G=) c.946G= (p.Ala316=) c.3412G= (p.Ala1138=) c.178G= n.4120G= c.3181G= (p.Ala1061=) c.3175G= (p.Ala1059=) | |
16 | g.23603608C>G | CA395138225 | PALB2 | c.3418G>C (p.Ala1140Pro) c.*897G>C (n.*897G>C) c.*47G>C (n.*47G>C) c.3256G>C (p.Ala1086Pro) c.2527G>C (p.Ala843Pro) n.4759G>C c.2365G>C (p.Ala789Pro) n.3932G>C n.2616G>C n.2107G>C c.*189G>C (n.*189G>C) c.946G>C (p.Ala316Pro) c.3412G>C (p.Ala1138Pro) c.178G>C n.4120G>C c.3181G>C (p.Ala1061Pro) c.3175G>C (p.Ala1059Pro) | dbSNP |
16 | g.23603608C>T | CA7963343 | PALB2 | c.3418G>A (p.Ala1140Thr) c.*897G>A (n.*897G>A) c.*47G>A (n.*47G>A) c.3256G>A (p.Ala1086Thr) c.2527G>A (p.Ala843Thr) n.4759G>A c.2365G>A (p.Ala789Thr) n.3932G>A n.2616G>A n.2107G>A c.*189G>A (n.*189G>A) c.946G>A (p.Ala316Thr) c.3412G>A (p.Ala1138Thr) c.178G>A n.4120G>A c.3181G>A (p.Ala1061Thr) c.3175G>A (p.Ala1059Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603609A>C | CA395138227 | PALB2 | c.3417T>G (p.Ile1139Met) c.*896T>G (n.*896T>G) c.*46T>G (n.*46T>G) c.3255T>G (p.Ile1085Met) c.2526T>G (p.Ile842Met) n.4758T>G c.2364T>G (p.Ile788Met) n.3931T>G n.2615T>G n.2106T>G c.*188T>G (n.*188T>G) c.945T>G (p.Ile315Met) c.3411T>G (p.Ile1137Met) c.177T>G n.4119T>G c.3180T>G (p.Ile1060Met) c.3174T>G (p.Ile1058Met) | |
16 | g.23603609A>G | CA494173694 | PALB2 | c.3417T>C (p.Ile1139=) c.*896T>C (n.*896T>C) c.*46T>C (n.*46T>C) c.3255T>C (p.Ile1085=) c.2526T>C (p.Ile842=) n.4758T>C c.2364T>C (p.Ile788=) n.3931T>C n.2615T>C n.2106T>C c.*188T>C (n.*188T>C) c.945T>C (p.Ile315=) c.3411T>C (p.Ile1137=) c.177T>C n.4119T>C c.3180T>C (p.Ile1060=) c.3174T>C (p.Ile1058=) | |
16 | g.23603609A>T | CA494173693 | PALB2 | c.3417T>A (p.Ile1139=) c.*896T>A (n.*896T>A) c.*46T>A (n.*46T>A) c.3255T>A (p.Ile1085=) c.2526T>A (p.Ile842=) n.4758T>A c.2364T>A (p.Ile788=) n.3931T>A n.2615T>A n.2106T>A c.*188T>A (n.*188T>A) c.945T>A (p.Ile315=) c.3411T>A (p.Ile1137=) c.177T>A n.4119T>A c.3180T>A (p.Ile1060=) c.3174T>A (p.Ile1058=) | dbSNP |
16 | g.23603610del | CA2695197582 | PALB2 | c.3417del (p.Ile1139MetfsTer26) c.*896del (n.*896del) c.*46del (n.*46del) c.3255del (p.Ile1085MetfsTer26) c.2526del (p.Ile842MetfsTer26) n.4758del c.2364del (p.Ile788MetfsTer26) n.3931del n.2615del n.2106del c.*188del (n.*188del) c.945del (p.Ile315MetfsTer26) c.3411del (p.Ile1137MetfsTer26) c.177del n.4119del c.3180del (p.Ile1060MetfsTer26) c.3174del (p.Ile1058MetfsTer26) | ClinVar |
16 | g.23603610A= | CA2213424508 | PALB2 | c.3416T= (p.Ile1139=) c.*895T= (n.*895T=) c.*45T= (n.*45T=) c.3254T= (p.Ile1085=) c.2525T= (p.Ile842=) n.4757T= c.2363T= (p.Ile788=) n.3930T= n.2614T= n.2105T= c.*187T= (n.*187T=) c.944T= (p.Ile315=) c.3410T= (p.Ile1137=) c.176T= n.4118T= c.3179T= (p.Ile1060=) c.3173T= (p.Ile1058=) | |
16 | g.23603610A>C | CA395138228 | PALB2 | c.3416T>G (p.Ile1139Ser) c.*895T>G (n.*895T>G) c.*45T>G (n.*45T>G) c.3254T>G (p.Ile1085Ser) c.2525T>G (p.Ile842Ser) n.4757T>G c.2363T>G (p.Ile788Ser) n.3930T>G n.2614T>G n.2105T>G c.*187T>G (n.*187T>G) c.944T>G (p.Ile315Ser) c.3410T>G (p.Ile1137Ser) c.176T>G n.4118T>G c.3179T>G (p.Ile1060Ser) c.3173T>G (p.Ile1058Ser) | |
16 | g.23603610A>G | CA279525150 | PALB2 | c.3416T>C (p.Ile1139Thr) c.*895T>C (n.*895T>C) c.*45T>C (n.*45T>C) c.3254T>C (p.Ile1085Thr) c.2525T>C (p.Ile842Thr) n.4757T>C c.2363T>C (p.Ile788Thr) n.3930T>C n.2614T>C n.2105T>C c.*187T>C (n.*187T>C) c.944T>C (p.Ile315Thr) c.3410T>C (p.Ile1137Thr) c.176T>C n.4118T>C c.3179T>C (p.Ile1060Thr) c.3173T>C (p.Ile1058Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603610A>T | CA395138229 | PALB2 | c.3416T>A (p.Ile1139Asn) c.*895T>A (n.*895T>A) c.*45T>A (n.*45T>A) c.3254T>A (p.Ile1085Asn) c.2525T>A (p.Ile842Asn) n.4757T>A c.2363T>A (p.Ile788Asn) n.3930T>A n.2614T>A n.2105T>A c.*187T>A (n.*187T>A) c.944T>A (p.Ile315Asn) c.3410T>A (p.Ile1137Asn) c.176T>A n.4118T>A c.3179T>A (p.Ile1060Asn) c.3173T>A (p.Ile1058Asn) | ClinVar dbSNP |
16 | g.23603611T>A | CA395138230 | PALB2 | c.3415A>T (p.Ile1139Phe) c.*894A>T (n.*894A>T) c.*44A>T (n.*44A>T) c.3253A>T (p.Ile1085Phe) c.2524A>T (p.Ile842Phe) n.4756A>T c.2362A>T (p.Ile788Phe) n.3929A>T n.2613A>T n.2104A>T c.*186A>T (n.*186A>T) c.943A>T (p.Ile315Phe) c.3409A>T (p.Ile1137Phe) c.175A>T n.4117A>T c.3178A>T (p.Ile1060Phe) c.3172A>T (p.Ile1058Phe) | dbSNP |
16 | g.23603611T>C | CA395138231 | PALB2 | c.3415A>G (p.Ile1139Val) c.*894A>G (n.*894A>G) c.*44A>G (n.*44A>G) c.3253A>G (p.Ile1085Val) c.2524A>G (p.Ile842Val) n.4756A>G c.2362A>G (p.Ile788Val) n.3929A>G n.2613A>G n.2104A>G c.*186A>G (n.*186A>G) c.943A>G (p.Ile315Val) c.3409A>G (p.Ile1137Val) c.175A>G n.4117A>G c.3178A>G (p.Ile1060Val) c.3172A>G (p.Ile1058Val) | |
16 | g.23603611T>G | CA395138232 | PALB2 | c.3415A>C (p.Ile1139Leu) c.*894A>C (n.*894A>C) c.*44A>C (n.*44A>C) c.3253A>C (p.Ile1085Leu) c.2524A>C (p.Ile842Leu) n.4756A>C c.2362A>C (p.Ile788Leu) n.3929A>C n.2613A>C n.2104A>C c.*186A>C (n.*186A>C) c.943A>C (p.Ile315Leu) c.3409A>C (p.Ile1137Leu) c.175A>C n.4117A>C c.3178A>C (p.Ile1060Leu) c.3172A>C (p.Ile1058Leu) | ClinVar dbSNP |
16 | g.23603612T>A | CA494173703 | PALB2 | c.3414A>T (p.Thr1138=) c.*893A>T (n.*893A>T) c.*43A>T (n.*43A>T) c.3252A>T (p.Thr1084=) c.2523A>T (p.Thr841=) n.4755A>T c.2361A>T (p.Thr787=) n.3928A>T n.2612A>T n.2103A>T c.*185A>T (n.*185A>T) c.942A>T (p.Thr314=) c.3408A>T (p.Thr1136=) c.174A>T n.4116A>T c.3177A>T (p.Thr1059=) c.3171A>T (p.Thr1057=) | |
16 | g.23603612T>C | CA494173705 | PALB2 | c.3414A>G (p.Thr1138=) c.*893A>G (n.*893A>G) c.*43A>G (n.*43A>G) c.3252A>G (p.Thr1084=) c.2523A>G (p.Thr841=) n.4755A>G c.2361A>G (p.Thr787=) n.3928A>G n.2612A>G n.2103A>G c.*185A>G (n.*185A>G) c.942A>G (p.Thr314=) c.3408A>G (p.Thr1136=) c.174A>G n.4116A>G c.3177A>G (p.Thr1059=) c.3171A>G (p.Thr1057=) | |
16 | g.23603612T>G | CA494173706 | PALB2 | c.3414A>C (p.Thr1138=) c.*893A>C (n.*893A>C) c.*43A>C (n.*43A>C) c.3252A>C (p.Thr1084=) c.2523A>C (p.Thr841=) n.4755A>C c.2361A>C (p.Thr787=) n.3928A>C n.2612A>C n.2103A>C c.*185A>C (n.*185A>C) c.942A>C (p.Thr314=) c.3408A>C (p.Thr1136=) c.174A>C n.4116A>C c.3177A>C (p.Thr1059=) c.3171A>C (p.Thr1057=) | |
16 | g.23603613del | CA2580091255 | PALB2 | c.3413del (p.Thr1138LysfsTer27) c.*892del (n.*892del) c.*42del (n.*42del) c.3251del (p.Thr1084LysfsTer27) c.2522del (p.Thr841LysfsTer27) n.4754del c.2360del (p.Thr787LysfsTer27) n.3927del n.2611del n.2102del c.*184del (n.*184del) c.941del (p.Thr314LysfsTer27) c.3407del (p.Thr1136LysfsTer27) c.173del n.4115del c.3176del (p.Thr1059LysfsTer27) c.3170del (p.Thr1057LysfsTer27) | ClinVar |
16 | g.23603613G>A | CA395138233 | PALB2 | c.3413C>T (p.Thr1138Ile) c.*892C>T (n.*892C>T) c.*42C>T (n.*42C>T) c.3251C>T (p.Thr1084Ile) c.2522C>T (p.Thr841Ile) n.4754C>T c.2360C>T (p.Thr787Ile) n.3927C>T n.2611C>T n.2102C>T c.*184C>T (n.*184C>T) c.941C>T (p.Thr314Ile) c.3407C>T (p.Thr1136Ile) c.173C>T n.4115C>T c.3176C>T (p.Thr1059Ile) c.3170C>T (p.Thr1057Ile) | ClinVar dbSNP |
16 | g.23603613G>C | CA395138234 | PALB2 | c.3413C>G (p.Thr1138Arg) c.*892C>G (n.*892C>G) c.*42C>G (n.*42C>G) c.3251C>G (p.Thr1084Arg) c.2522C>G (p.Thr841Arg) n.4754C>G c.2360C>G (p.Thr787Arg) n.3927C>G n.2611C>G n.2102C>G c.*184C>G (n.*184C>G) c.941C>G (p.Thr314Arg) c.3407C>G (p.Thr1136Arg) c.173C>G n.4115C>G c.3176C>G (p.Thr1059Arg) c.3170C>G (p.Thr1057Arg) | dbSNP |
16 | g.23603613G= | CA2213424510 | PALB2 | c.3413C= (p.Thr1138=) c.*892C= (n.*892C=) c.*42C= (n.*42C=) c.3251C= (p.Thr1084=) c.2522C= (p.Thr841=) n.4754C= c.2360C= (p.Thr787=) n.3927C= n.2611C= n.2102C= c.*184C= (n.*184C=) c.941C= (p.Thr314=) c.3407C= (p.Thr1136=) c.173C= n.4115C= c.3176C= (p.Thr1059=) c.3170C= (p.Thr1057=) | |
16 | g.23603613G>T | CA395138235 | PALB2 | c.3413C>A (p.Thr1138Lys) c.*892C>A (n.*892C>A) c.*42C>A (n.*42C>A) c.3251C>A (p.Thr1084Lys) c.2522C>A (p.Thr841Lys) n.4754C>A c.2360C>A (p.Thr787Lys) n.3927C>A n.2611C>A n.2102C>A c.*184C>A (n.*184C>A) c.941C>A (p.Thr314Lys) c.3407C>A (p.Thr1136Lys) c.173C>A n.4115C>A c.3176C>A (p.Thr1059Lys) c.3170C>A (p.Thr1057Lys) | |
16 | g.23603614T>A | CA395138236 | PALB2 | c.3412A>T (p.Thr1138Ser) c.*891A>T (n.*891A>T) c.*41A>T (n.*41A>T) c.3250A>T (p.Thr1084Ser) c.2521A>T (p.Thr841Ser) n.4753A>T c.2359A>T (p.Thr787Ser) n.3926A>T n.2610A>T n.2101A>T c.*183A>T (n.*183A>T) c.940A>T (p.Thr314Ser) c.3406A>T (p.Thr1136Ser) c.172A>T n.4114A>T c.3175A>T (p.Thr1059Ser) c.3169A>T (p.Thr1057Ser) | dbSNP |
16 | g.23603614T>C | CA395138237 | PALB2 | c.3412A>G (p.Thr1138Ala) c.*891A>G (n.*891A>G) c.*41A>G (n.*41A>G) c.3250A>G (p.Thr1084Ala) c.2521A>G (p.Thr841Ala) n.4753A>G c.2359A>G (p.Thr787Ala) n.3926A>G n.2610A>G n.2101A>G c.*183A>G (n.*183A>G) c.940A>G (p.Thr314Ala) c.3406A>G (p.Thr1136Ala) c.172A>G n.4114A>G c.3175A>G (p.Thr1059Ala) c.3169A>G (p.Thr1057Ala) | dbSNP |
16 | g.23603614T>G | CA395138238 | PALB2 | c.3412A>C (p.Thr1138Pro) c.*891A>C (n.*891A>C) c.*41A>C (n.*41A>C) c.3250A>C (p.Thr1084Pro) c.2521A>C (p.Thr841Pro) n.4753A>C c.2359A>C (p.Thr787Pro) n.3926A>C n.2610A>C n.2101A>C c.*183A>C (n.*183A>C) c.940A>C (p.Thr314Pro) c.3406A>C (p.Thr1136Pro) c.172A>C n.4114A>C c.3175A>C (p.Thr1059Pro) c.3169A>C (p.Thr1057Pro) | dbSNP |
16 | g.23603614T= | CA2213424513 | PALB2 | c.3412A= (p.Thr1138=) c.*891A= (n.*891A=) c.*41A= (n.*41A=) c.3250A= (p.Thr1084=) c.2521A= (p.Thr841=) n.4753A= c.2359A= (p.Thr787=) n.3926A= n.2610A= n.2101A= c.*183A= (n.*183A=) c.940A= (p.Thr314=) c.3406A= (p.Thr1136=) c.172A= n.4114A= c.3175A= (p.Thr1059=) c.3169A= (p.Thr1057=) | |
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=) | |
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=) | |
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 |
16 | g.23603640C>T | CA7963345 | PALB2 | c.3386G>A (p.Cys1129Tyr) c.*865G>A (n.*865G>A) c.*15G>A (n.*15G>A) c.3224G>A (p.Cys1075Tyr) c.2495G>A (p.Cys832Tyr) n.4727G>A c.2333G>A (p.Cys778Tyr) n.3900G>A n.2584G>A n.2075G>A c.*157G>A (n.*157G>A) c.914G>A (p.Cys305Tyr) c.3380G>A (p.Cys1127Tyr) c.146G>A n.4088G>A c.3149G>A (p.Cys1050Tyr) c.3143G>A (p.Cys1048Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603641A= | CA2213424573 | PALB2 | c.3385T= (p.Cys1129=) c.*864T= (n.*864T=) c.*14T= (n.*14T=) c.3223T= (p.Cys1075=) c.2494T= (p.Cys832=) n.4726T= c.2332T= (p.Cys778=) n.3899T= n.2583T= n.2074T= c.*156T= (n.*156T=) c.913T= (p.Cys305=) c.3379T= (p.Cys1127=) c.145T= n.4087T= c.3148T= (p.Cys1050=) c.3142T= (p.Cys1048=) | |
16 | g.23603641A>C | CA395138302 | PALB2 | c.3385T>G (p.Cys1129Gly) c.*864T>G (n.*864T>G) c.*14T>G (n.*14T>G) c.3223T>G (p.Cys1075Gly) c.2494T>G (p.Cys832Gly) n.4726T>G c.2332T>G (p.Cys778Gly) n.3899T>G n.2583T>G n.2074T>G c.*156T>G (n.*156T>G) c.913T>G (p.Cys305Gly) c.3379T>G (p.Cys1127Gly) c.145T>G n.4087T>G c.3148T>G (p.Cys1050Gly) c.3142T>G (p.Cys1048Gly) | |
16 | g.23603641A>G | CA7963346 | PALB2 | c.3385T>C (p.Cys1129Arg) c.*864T>C (n.*864T>C) c.*14T>C (n.*14T>C) c.3223T>C (p.Cys1075Arg) c.2494T>C (p.Cys832Arg) n.4726T>C c.2332T>C (p.Cys778Arg) n.3899T>C n.2583T>C n.2074T>C c.*156T>C (n.*156T>C) c.913T>C (p.Cys305Arg) c.3379T>C (p.Cys1127Arg) c.145T>C n.4087T>C c.3148T>C (p.Cys1050Arg) c.3142T>C (p.Cys1048Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603641A>T | CA395138305 | PALB2 | c.3385T>A (p.Cys1129Ser) c.*864T>A (n.*864T>A) c.*14T>A (n.*14T>A) c.3223T>A (p.Cys1075Ser) c.2494T>A (p.Cys832Ser) n.4726T>A c.2332T>A (p.Cys778Ser) n.3899T>A n.2583T>A n.2074T>A c.*156T>A (n.*156T>A) c.913T>A (p.Cys305Ser) c.3379T>A (p.Cys1127Ser) c.145T>A n.4087T>A c.3148T>A (p.Cys1050Ser) c.3142T>A (p.Cys1048Ser) | |
16 | g.23603642G>A | CA494173785 | PALB2 | c.3384C>T (p.His1128=) c.*863C>T (n.*863C>T) c.*13C>T (n.*13C>T) c.3222C>T (p.His1074=) c.2493C>T (p.His831=) n.4725C>T c.2331C>T (p.His777=) n.3898C>T n.2582C>T n.2073C>T c.*155C>T (n.*155C>T) c.912C>T (p.His304=) c.3378C>T (p.His1126=) c.144C>T n.4086C>T c.3147C>T (p.His1049=) c.3141C>T (p.His1047=) | ClinVar |
16 | g.23603642G>C | CA395138306 | PALB2 | c.3384C>G (p.His1128Gln) c.*863C>G (n.*863C>G) c.*13C>G (n.*13C>G) c.3222C>G (p.His1074Gln) c.2493C>G (p.His831Gln) n.4725C>G c.2331C>G (p.His777Gln) n.3898C>G n.2582C>G n.2073C>G c.*155C>G (n.*155C>G) c.912C>G (p.His304Gln) c.3378C>G (p.His1126Gln) c.144C>G n.4086C>G c.3147C>G (p.His1049Gln) c.3141C>G (p.His1047Gln) | COSMIC |
16 | g.23603642G>T | CA395138307 | PALB2 | c.3384C>A (p.His1128Gln) c.*863C>A (n.*863C>A) c.*13C>A (n.*13C>A) c.3222C>A (p.His1074Gln) c.2493C>A (p.His831Gln) n.4725C>A c.2331C>A (p.His777Gln) n.3898C>A n.2582C>A n.2073C>A c.*155C>A (n.*155C>A) c.912C>A (p.His304Gln) c.3378C>A (p.His1126Gln) c.144C>A n.4086C>A c.3147C>A (p.His1049Gln) c.3141C>A (p.His1047Gln) | |
16 | g.23603643T>A | CA395138309 | PALB2 | c.3383A>T (p.His1128Leu) c.*862A>T (n.*862A>T) c.*12A>T (n.*12A>T) c.3221A>T (p.His1074Leu) c.2492A>T (p.His831Leu) n.4724A>T c.2330A>T (p.His777Leu) n.3897A>T n.2581A>T n.2072A>T c.*154A>T (n.*154A>T) c.911A>T (p.His304Leu) c.3377A>T (p.His1126Leu) c.143A>T n.4085A>T c.3146A>T (p.His1049Leu) c.3140A>T (p.His1047Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.23603643T>C | CA395138311 | PALB2 | c.3383A>G (p.His1128Arg) c.*862A>G (n.*862A>G) c.*12A>G (n.*12A>G) c.3221A>G (p.His1074Arg) c.2492A>G (p.His831Arg) n.4724A>G c.2330A>G (p.His777Arg) n.3897A>G n.2581A>G n.2072A>G c.*154A>G (n.*154A>G) c.911A>G (p.His304Arg) c.3377A>G (p.His1126Arg) c.143A>G n.4085A>G c.3146A>G (p.His1049Arg) c.3140A>G (p.His1047Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603643T>G | CA7963347 | PALB2 | c.3383A>C (p.His1128Pro) c.*862A>C (n.*862A>C) c.*12A>C (n.*12A>C) c.3221A>C (p.His1074Pro) c.2492A>C (p.His831Pro) n.4724A>C c.2330A>C (p.His777Pro) n.3897A>C n.2581A>C n.2072A>C c.*154A>C (n.*154A>C) c.911A>C (p.His304Pro) c.3377A>C (p.His1126Pro) c.143A>C n.4085A>C c.3146A>C (p.His1049Pro) c.3140A>C (p.His1047Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603643T= | CA2213424583 | PALB2 | c.3383A= (p.His1128=) c.*862A= (n.*862A=) c.*12A= (n.*12A=) c.3221A= (p.His1074=) c.2492A= (p.His831=) n.4724A= c.2330A= (p.His777=) n.3897A= n.2581A= n.2072A= c.*154A= (n.*154A=) c.911A= (p.His304=) c.3377A= (p.His1126=) c.143A= n.4085A= c.3146A= (p.His1049=) c.3140A= (p.His1047=) | |
16 | g.23603644G>A | CA395138314 | PALB2 | c.3382C>T (p.His1128Tyr) c.*861C>T (n.*861C>T) c.*11C>T (n.*11C>T) c.3220C>T (p.His1074Tyr) c.2491C>T (p.His831Tyr) n.4723C>T c.2329C>T (p.His777Tyr) n.3896C>T n.2580C>T n.2071C>T c.*153C>T (n.*153C>T) c.910C>T (p.His304Tyr) c.3376C>T (p.His1126Tyr) c.142C>T n.4084C>T c.3145C>T (p.His1049Tyr) c.3139C>T (p.His1047Tyr) | ClinVar dbSNP |
16 | g.23603644G>C | CA395138316 | PALB2 | c.3382C>G (p.His1128Asp) c.*861C>G (n.*861C>G) c.*11C>G (n.*11C>G) c.3220C>G (p.His1074Asp) c.2491C>G (p.His831Asp) n.4723C>G c.2329C>G (p.His777Asp) n.3896C>G n.2580C>G n.2071C>G c.*153C>G (n.*153C>G) c.910C>G (p.His304Asp) c.3376C>G (p.His1126Asp) c.142C>G n.4084C>G c.3145C>G (p.His1049Asp) c.3139C>G (p.His1047Asp) | dbSNP |
16 | g.23603644G>T | CA395138318 | PALB2 | c.3382C>A (p.His1128Asn) c.*861C>A (n.*861C>A) c.*11C>A (n.*11C>A) c.3220C>A (p.His1074Asn) c.2491C>A (p.His831Asn) n.4723C>A c.2329C>A (p.His777Asn) n.3896C>A n.2580C>A n.2071C>A c.*153C>A (n.*153C>A) c.910C>A (p.His304Asn) c.3376C>A (p.His1126Asn) c.142C>A n.4084C>A c.3145C>A (p.His1049Asn) c.3139C>A (p.His1047Asn) | |
16 | g.23603645A= | CA2213424598 | PALB2 | c.3381T= (p.Asp1127=) c.*860T= (n.*860T=) c.*10T= (n.*10T=) c.3219T= (p.Asp1073=) c.2490T= (p.Asp830=) n.4722T= c.2328T= (p.Asp776=) n.3895T= n.2579T= n.2070T= c.*152T= (n.*152T=) c.909T= (p.Asp303=) c.3375T= (p.Asp1125=) c.141T= n.4083T= c.3144T= (p.Asp1048=) c.3138T= (p.Asp1046=) | |
16 | g.23603645A>C | CA395138320 | PALB2 | c.3381T>G (p.Asp1127Glu) c.*860T>G (n.*860T>G) c.*10T>G (n.*10T>G) c.3219T>G (p.Asp1073Glu) c.2490T>G (p.Asp830Glu) n.4722T>G c.2328T>G (p.Asp776Glu) n.3895T>G n.2579T>G n.2070T>G c.*152T>G (n.*152T>G) c.909T>G (p.Asp303Glu) c.3375T>G (p.Asp1125Glu) c.141T>G n.4083T>G c.3144T>G (p.Asp1048Glu) c.3138T>G (p.Asp1046Glu) | |
16 | g.23603645A>G | CA494173795 | PALB2 | c.3381T>C (p.Asp1127=) c.*860T>C (n.*860T>C) c.*10T>C (n.*10T>C) c.3219T>C (p.Asp1073=) c.2490T>C (p.Asp830=) n.4722T>C c.2328T>C (p.Asp776=) n.3895T>C n.2579T>C n.2070T>C c.*152T>C (n.*152T>C) c.909T>C (p.Asp303=) c.3375T>C (p.Asp1125=) c.141T>C n.4083T>C c.3144T>C (p.Asp1048=) c.3138T>C (p.Asp1046=) | ClinVar dbSNP |
16 | g.23603645A>T | CA395138322 | PALB2 | c.3381T>A (p.Asp1127Glu) c.*860T>A (n.*860T>A) c.*10T>A (n.*10T>A) c.3219T>A (p.Asp1073Glu) c.2490T>A (p.Asp830Glu) n.4722T>A c.2328T>A (p.Asp776Glu) n.3895T>A n.2579T>A n.2070T>A c.*152T>A (n.*152T>A) c.909T>A (p.Asp303Glu) c.3375T>A (p.Asp1125Glu) c.141T>A n.4083T>A c.3144T>A (p.Asp1048Glu) c.3138T>A (p.Asp1046Glu) | ClinVar dbSNP |
16 | g.23603646T>A | CA395138324 | PALB2 | c.3380A>T (p.Asp1127Val) c.*859A>T (n.*859A>T) c.*9A>T (n.*9A>T) c.3218A>T (p.Asp1073Val) c.2489A>T (p.Asp830Val) n.4721A>T c.2327A>T (p.Asp776Val) n.3894A>T n.2578A>T n.2069A>T c.*151A>T (n.*151A>T) c.908A>T (p.Asp303Val) c.3374A>T (p.Asp1125Val) c.140A>T n.4082A>T c.3143A>T (p.Asp1048Val) c.3137A>T (p.Asp1046Val) | ClinVar dbSNP |
16 | g.23603646T>C | CA395138326 | PALB2 | c.3380A>G (p.Asp1127Gly) c.*859A>G (n.*859A>G) c.*9A>G (n.*9A>G) c.3218A>G (p.Asp1073Gly) c.2489A>G (p.Asp830Gly) n.4721A>G c.2327A>G (p.Asp776Gly) n.3894A>G n.2578A>G n.2069A>G c.*151A>G (n.*151A>G) c.908A>G (p.Asp303Gly) c.3374A>G (p.Asp1125Gly) c.140A>G n.4082A>G c.3143A>G (p.Asp1048Gly) c.3137A>G (p.Asp1046Gly) | |
16 | g.23603646T>G | CA395138328 | PALB2 | c.3380A>C (p.Asp1127Ala) c.*859A>C (n.*859A>C) c.*9A>C (n.*9A>C) c.3218A>C (p.Asp1073Ala) c.2489A>C (p.Asp830Ala) n.4721A>C c.2327A>C (p.Asp776Ala) n.3894A>C n.2578A>C n.2069A>C c.*151A>C (n.*151A>C) c.908A>C (p.Asp303Ala) c.3374A>C (p.Asp1125Ala) c.140A>C n.4082A>C c.3143A>C (p.Asp1048Ala) c.3137A>C (p.Asp1046Ala) | |
16 | g.23603646T= | CA2213424605 | PALB2 | c.3380A= (p.Asp1127=) c.*859A= (n.*859A=) c.*9A= (n.*9A=) c.3218A= (p.Asp1073=) c.2489A= (p.Asp830=) n.4721A= c.2327A= (p.Asp776=) n.3894A= n.2578A= n.2069A= c.*151A= (n.*151A=) c.908A= (p.Asp303=) c.3374A= (p.Asp1125=) c.140A= n.4082A= c.3143A= (p.Asp1048=) c.3137A= (p.Asp1046=) | |
16 | g.23603647C>A | CA349824 | PALB2 | c.3379G>T (p.Asp1127Tyr) c.*858G>T (n.*858G>T) c.*8G>T (n.*8G>T) c.3217G>T (p.Asp1073Tyr) c.2488G>T (p.Asp830Tyr) n.4720G>T c.2326G>T (p.Asp776Tyr) n.3893G>T n.2577G>T n.2068G>T c.*150G>T (n.*150G>T) c.907G>T (p.Asp303Tyr) c.3373G>T (p.Asp1125Tyr) c.139G>T n.4081G>T c.3142G>T (p.Asp1048Tyr) c.3136G>T (p.Asp1046Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603647C= | CA2213424617 | PALB2 | c.3379G= (p.Asp1127=) c.*858G= (n.*858G=) c.*8G= (n.*8G=) c.3217G= (p.Asp1073=) c.2488G= (p.Asp830=) n.4720G= c.2326G= (p.Asp776=) n.3893G= n.2577G= n.2068G= c.*150G= (n.*150G=) c.907G= (p.Asp303=) c.3373G= (p.Asp1125=) c.139G= n.4081G= c.3142G= (p.Asp1048=) c.3136G= (p.Asp1046=) | |
16 | g.23603647C>G | CA7963348 | PALB2 | c.3379G>C (p.Asp1127His) c.*858G>C (n.*858G>C) c.*8G>C (n.*8G>C) c.3217G>C (p.Asp1073His) c.2488G>C (p.Asp830His) n.4720G>C c.2326G>C (p.Asp776His) n.3893G>C n.2577G>C n.2068G>C c.*150G>C (n.*150G>C) c.907G>C (p.Asp303His) c.3373G>C (p.Asp1125His) c.139G>C n.4081G>C c.3142G>C (p.Asp1048His) c.3136G>C (p.Asp1046His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603647C>T | CA395138332 | PALB2 | c.3379G>A (p.Asp1127Asn) c.*858G>A (n.*858G>A) c.*8G>A (n.*8G>A) c.3217G>A (p.Asp1073Asn) c.2488G>A (p.Asp830Asn) n.4720G>A c.2326G>A (p.Asp776Asn) n.3893G>A n.2577G>A n.2068G>A c.*150G>A (n.*150G>A) c.907G>A (p.Asp303Asn) c.3373G>A (p.Asp1125Asn) c.139G>A n.4081G>A c.3142G>A (p.Asp1048Asn) c.3136G>A (p.Asp1046Asn) | dbSNP |
16 | g.23603648T>A | CA395138333 | PALB2 | c.3378A>T (p.Lys1126Asn) c.*857A>T (n.*857A>T) c.*7A>T (n.*7A>T) c.3216A>T (p.Lys1072Asn) c.2487A>T (p.Lys829Asn) n.4719A>T c.2325A>T (p.Lys775Asn) n.3892A>T n.2576A>T n.2067A>T c.*149A>T (n.*149A>T) c.906A>T (p.Lys302Asn) c.3372A>T (p.Lys1124Asn) c.138A>T n.4080A>T c.3141A>T (p.Lys1047Asn) c.3135A>T (p.Lys1045Asn) | dbSNP |
16 | g.23603648T>C | CA494173805 | PALB2 | c.3378A>G (p.Lys1126=) c.*857A>G (n.*857A>G) c.*7A>G (n.*7A>G) c.3216A>G (p.Lys1072=) c.2487A>G (p.Lys829=) n.4719A>G c.2325A>G (p.Lys775=) n.3892A>G n.2576A>G n.2067A>G c.*149A>G (n.*149A>G) c.906A>G (p.Lys302=) c.3372A>G (p.Lys1124=) c.138A>G n.4080A>G c.3141A>G (p.Lys1047=) c.3135A>G (p.Lys1045=) | |
16 | g.23603648T>G | CA395138334 | PALB2 | c.3378A>C (p.Lys1126Asn) c.*857A>C (n.*857A>C) c.*7A>C (n.*7A>C) c.3216A>C (p.Lys1072Asn) c.2487A>C (p.Lys829Asn) n.4719A>C c.2325A>C (p.Lys775Asn) n.3892A>C n.2576A>C n.2067A>C c.*149A>C (n.*149A>C) c.906A>C (p.Lys302Asn) c.3372A>C (p.Lys1124Asn) c.138A>C n.4080A>C c.3141A>C (p.Lys1047Asn) c.3135A>C (p.Lys1045Asn) | |
16 | g.23603649T>A | CA395138336 | PALB2 | c.3377A>T (p.Lys1126Ile) c.*856A>T (n.*856A>T) c.*6A>T (n.*6A>T) c.3215A>T (p.Lys1072Ile) c.2486A>T (p.Lys829Ile) n.4718A>T c.2324A>T (p.Lys775Ile) n.3891A>T n.2575A>T n.2066A>T c.*148A>T (n.*148A>T) c.905A>T (p.Lys302Ile) c.3371A>T (p.Lys1124Ile) c.137A>T n.4079A>T c.3140A>T (p.Lys1047Ile) c.3134A>T (p.Lys1045Ile) | |
16 | g.23603649T>C | CA395138339 | PALB2 | c.3377A>G (p.Lys1126Arg) c.*856A>G (n.*856A>G) c.*6A>G (n.*6A>G) c.3215A>G (p.Lys1072Arg) c.2486A>G (p.Lys829Arg) n.4718A>G c.2324A>G (p.Lys775Arg) n.3891A>G n.2575A>G n.2066A>G c.*148A>G (n.*148A>G) c.905A>G (p.Lys302Arg) c.3371A>G (p.Lys1124Arg) c.137A>G n.4079A>G c.3140A>G (p.Lys1047Arg) c.3134A>G (p.Lys1045Arg) | dbSNP |
16 | g.23603649T>G | CA395138338 | PALB2 | c.3377A>C (p.Lys1126Thr) c.*856A>C (n.*856A>C) c.*6A>C (n.*6A>C) c.3215A>C (p.Lys1072Thr) c.2486A>C (p.Lys829Thr) n.4718A>C c.2324A>C (p.Lys775Thr) n.3891A>C n.2575A>C n.2066A>C c.*148A>C (n.*148A>C) c.905A>C (p.Lys302Thr) c.3371A>C (p.Lys1124Thr) c.137A>C n.4079A>C c.3140A>C (p.Lys1047Thr) c.3134A>C (p.Lys1045Thr) | |
16 | g.23603650T>A | CA395138342 | PALB2 | c.3376A>T (p.Lys1126Ter) c.*855A>T (n.*855A>T) c.*5A>T (n.*5A>T) c.3214A>T (p.Lys1072Ter) c.2485A>T (p.Lys829Ter) n.4717A>T c.2323A>T (p.Lys775Ter) n.3890A>T n.2574A>T n.2065A>T c.*147A>T (n.*147A>T) c.904A>T (p.Lys302Ter) c.3370A>T (p.Lys1124Ter) c.136A>T n.4078A>T c.3139A>T (p.Lys1047Ter) c.3133A>T (p.Lys1045Ter) | dbSNP |
16 | g.23603650T>C | CA395138344 | PALB2 | c.3376A>G (p.Lys1126Glu) c.*855A>G (n.*855A>G) c.*5A>G (n.*5A>G) c.3214A>G (p.Lys1072Glu) c.2485A>G (p.Lys829Glu) n.4717A>G c.2323A>G (p.Lys775Glu) n.3890A>G n.2574A>G n.2065A>G c.*147A>G (n.*147A>G) c.904A>G (p.Lys302Glu) c.3370A>G (p.Lys1124Glu) c.136A>G n.4078A>G c.3139A>G (p.Lys1047Glu) c.3133A>G (p.Lys1045Glu) | dbSNP |
16 | g.23603650T>G | CA395138346 | PALB2 | c.3376A>C (p.Lys1126Gln) c.*855A>C (n.*855A>C) c.*5A>C (n.*5A>C) c.3214A>C (p.Lys1072Gln) c.2485A>C (p.Lys829Gln) n.4717A>C c.2323A>C (p.Lys775Gln) n.3890A>C n.2574A>C n.2065A>C c.*147A>C (n.*147A>C) c.904A>C (p.Lys302Gln) c.3370A>C (p.Lys1124Gln) c.136A>C n.4078A>C c.3139A>C (p.Lys1047Gln) c.3133A>C (p.Lys1045Gln) | |
16 | g.23603651C>A | CA494173815 | PALB2 | c.3375G>T (p.Val1125=) c.*854G>T (n.*854G>T) c.*4G>T (n.*4G>T) c.3213G>T (p.Val1071=) c.2484G>T (p.Val828=) n.4716G>T c.2322G>T (p.Val774=) n.3889G>T n.2573G>T n.2064G>T c.*146G>T (n.*146G>T) c.903G>T (p.Val301=) c.3369G>T (p.Val1123=) c.135G>T n.4077G>T c.3138G>T (p.Val1046=) c.3132G>T (p.Val1044=) | dbSNP |
16 | g.23603651C= | CA2213424626 | PALB2 | c.3375G= (p.Val1125=) c.*854G= (n.*854G=) c.*4G= (n.*4G=) c.3213G= (p.Val1071=) c.2484G= (p.Val828=) n.4716G= c.2322G= (p.Val774=) n.3889G= n.2573G= n.2064G= c.*146G= (n.*146G=) c.903G= (p.Val301=) c.3369G= (p.Val1123=) c.135G= n.4077G= c.3138G= (p.Val1046=) c.3132G= (p.Val1044=) | |
16 | g.23603651C>G | CA494173812 | PALB2 | c.3375G>C (p.Val1125=) c.*854G>C (n.*854G>C) c.*4G>C (n.*4G>C) c.3213G>C (p.Val1071=) c.2484G>C (p.Val828=) n.4716G>C c.2322G>C (p.Val774=) n.3889G>C n.2573G>C n.2064G>C c.*146G>C (n.*146G>C) c.903G>C (p.Val301=) c.3369G>C (p.Val1123=) c.135G>C n.4077G>C c.3138G>C (p.Val1046=) c.3132G>C (p.Val1044=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603651C>T | CA7963349 | PALB2 | c.3375G>A (p.Val1125=) c.*854G>A (n.*854G>A) c.*4G>A (n.*4G>A) c.3213G>A (p.Val1071=) c.2484G>A (p.Val828=) n.4716G>A c.2322G>A (p.Val774=) n.3889G>A n.2573G>A n.2064G>A c.*146G>A (n.*146G>A) c.903G>A (p.Val301=) c.3369G>A (p.Val1123=) c.135G>A n.4077G>A c.3138G>A (p.Val1046=) c.3132G>A (p.Val1044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.23603652A>C | CA395138353 | PALB2 | c.3374T>G (p.Val1125Gly) c.*853T>G (n.*853T>G) c.*3T>G (n.*3T>G) c.3212T>G (p.Val1071Gly) c.2483T>G (p.Val828Gly) n.4715T>G c.2321T>G (p.Val774Gly) n.3888T>G n.2572T>G n.2063T>G c.*145T>G (n.*145T>G) c.902T>G (p.Val301Gly) c.3368T>G (p.Val1123Gly) c.134T>G n.4076T>G c.3137T>G (p.Val1046Gly) c.3131T>G (p.Val1044Gly) | dbSNP |
16 | g.23603652A>G | CA395138349 | PALB2 | c.3374T>C (p.Val1125Ala) c.*853T>C (n.*853T>C) c.*3T>C (n.*3T>C) c.3212T>C (p.Val1071Ala) c.2483T>C (p.Val828Ala) n.4715T>C c.2321T>C (p.Val774Ala) n.3888T>C n.2572T>C n.2063T>C c.*145T>C (n.*145T>C) c.902T>C (p.Val301Ala) c.3368T>C (p.Val1123Ala) c.134T>C n.4076T>C c.3137T>C (p.Val1046Ala) c.3131T>C (p.Val1044Ala) | |
16 | g.23603652A>T | CA395138351 | PALB2 | c.3374T>A (p.Val1125Glu) c.*853T>A (n.*853T>A) c.*3T>A (n.*3T>A) c.3212T>A (p.Val1071Glu) c.2483T>A (p.Val828Glu) n.4715T>A c.2321T>A (p.Val774Glu) n.3888T>A n.2572T>A n.2063T>A c.*145T>A (n.*145T>A) c.902T>A (p.Val301Glu) c.3368T>A (p.Val1123Glu) c.134T>A n.4076T>A c.3137T>A (p.Val1046Glu) c.3131T>A (p.Val1044Glu) | dbSNP |
16 | g.23603653C>A | CA395138355 | PALB2 | c.3373G>T (p.Val1125Leu) c.*852G>T (n.*852G>T) c.*2G>T (n.*2G>T) c.3211G>T (p.Val1071Leu) c.2482G>T (p.Val828Leu) n.4714G>T c.2320G>T (p.Val774Leu) n.3887G>T n.2571G>T n.2062G>T c.*144G>T (n.*144G>T) c.901G>T (p.Val301Leu) c.3367G>T (p.Val1123Leu) c.133G>T n.4075G>T c.3136G>T (p.Val1046Leu) c.3130G>T (p.Val1044Leu) | dbSNP |
16 | g.23603653C= | CA2213424636 | PALB2 | c.3373G= (p.Val1125=) c.*852G= (n.*852G=) c.*2G= (n.*2G=) c.3211G= (p.Val1071=) c.2482G= (p.Val828=) n.4714G= c.2320G= (p.Val774=) n.3887G= n.2571G= n.2062G= c.*144G= (n.*144G=) c.901G= (p.Val301=) c.3367G= (p.Val1123=) c.133G= n.4075G= c.3136G= (p.Val1046=) c.3130G= (p.Val1044=) | |
16 | g.23603653C>G | CA7963350 | PALB2 | c.3373G>C (p.Val1125Leu) c.*852G>C (n.*852G>C) c.*2G>C (n.*2G>C) c.3211G>C (p.Val1071Leu) c.2482G>C (p.Val828Leu) n.4714G>C c.2320G>C (p.Val774Leu) n.3887G>C n.2571G>C n.2062G>C c.*144G>C (n.*144G>C) c.901G>C (p.Val301Leu) c.3367G>C (p.Val1123Leu) c.133G>C n.4075G>C c.3136G>C (p.Val1046Leu) c.3130G>C (p.Val1044Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603653C>T | CA192169 | PALB2 | c.3373G>A (p.Val1125Met) c.*852G>A (n.*852G>A) c.*2G>A (n.*2G>A) c.3211G>A (p.Val1071Met) c.2482G>A (p.Val828Met) n.4714G>A c.2320G>A (p.Val774Met) n.3887G>A n.2571G>A n.2062G>A c.*144G>A (n.*144G>A) c.901G>A (p.Val301Met) c.3367G>A (p.Val1123Met) c.133G>A n.4075G>A c.3136G>A (p.Val1046Met) c.3130G>A (p.Val1044Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.23603654G>A | CA192185 | PALB2 | c.3372C>T (p.Asp1124=) c.*851C>T (n.*851C>T) c.*1C>T (n.*1C>T) c.3210C>T (p.Asp1070=) c.2481C>T (p.Asp827=) n.4713C>T c.2319C>T (p.Asp773=) n.3886C>T n.2570C>T n.2061C>T c.*143C>T (n.*143C>T) c.900C>T (p.Asp300=) c.3366C>T (p.Asp1122=) c.132C>T n.4074C>T c.3135C>T (p.Asp1045=) c.3129C>T (p.Asp1043=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.23603654G>C | CA395138360 | PALB2 | c.3372C>G (p.Asp1124Glu) c.*851C>G (n.*851C>G) c.*1C>G (n.*1C>G) c.3210C>G (p.Asp1070Glu) c.2481C>G (p.Asp827Glu) n.4713C>G c.2319C>G (p.Asp773Glu) n.3886C>G n.2570C>G n.2061C>G c.*143C>G (n.*143C>G) c.900C>G (p.Asp300Glu) c.3366C>G (p.Asp1122Glu) c.132C>G n.4074C>G c.3135C>G (p.Asp1045Glu) c.3129C>G (p.Asp1043Glu) | dbSNP |
16 | g.23603654G= | CA2213424651 | PALB2 | c.3372C= (p.Asp1124=) c.*851C= (n.*851C=) c.*1C= (n.*1C=) c.3210C= (p.Asp1070=) c.2481C= (p.Asp827=) n.4713C= c.2319C= (p.Asp773=) n.3886C= n.2570C= n.2061C= c.*143C= (n.*143C=) c.900C= (p.Asp300=) c.3366C= (p.Asp1122=) c.132C= n.4074C= c.3135C= (p.Asp1045=) c.3129C= (p.Asp1043=) | |
16 | g.23603654G>T | CA10576106 | PALB2 | c.3372C>A (p.Asp1124Glu) c.*851C>A (n.*851C>A) c.*1C>A (n.*1C>A) c.3210C>A (p.Asp1070Glu) c.2481C>A (p.Asp827Glu) n.4713C>A c.2319C>A (p.Asp773Glu) n.3886C>A n.2570C>A n.2061C>A c.*143C>A (n.*143C>A) c.900C>A (p.Asp300Glu) c.3366C>A (p.Asp1122Glu) c.132C>A n.4074C>A c.3135C>A (p.Asp1045Glu) c.3129C>A (p.Asp1043Glu) | ClinVar dbSNP |
16 | g.23603655T>A | CA395138362 | PALB2 | c.3371A>T (p.Asp1124Val) c.*850A>T (n.*850A>T) c.3216A>T (p.Ter1072Cys) c.3209A>T (p.Asp1070Val) c.2480A>T (p.Asp827Val) n.4712A>T c.2331A>T (p.Ter777Cys) c.2318A>T (p.Asp773Val) n.3885A>T n.2569A>T n.2060A>T c.*142A>T (n.*142A>T) c.899A>T (p.Asp300Val) c.3365A>T (p.Asp1122Val) c.131A>T c.3222A>T (p.Ter1074Cys) n.4073A>T c.3134A>T (p.Asp1045Val) c.3128A>T (p.Asp1043Val) | ClinVar dbSNP |
16 | g.23603655T>C | CA395138364 | PALB2 | c.3371A>G (p.Asp1124Gly) c.*850A>G (n.*850A>G) c.3216A>G (p.Ter1072Trp) c.3209A>G (p.Asp1070Gly) c.2480A>G (p.Asp827Gly) n.4712A>G c.2331A>G (p.Ter777Trp) c.2318A>G (p.Asp773Gly) n.3885A>G n.2569A>G n.2060A>G c.*142A>G (n.*142A>G) c.899A>G (p.Asp300Gly) c.3365A>G (p.Asp1122Gly) c.131A>G c.3222A>G (p.Ter1074Trp) n.4073A>G c.3134A>G (p.Asp1045Gly) c.3128A>G (p.Asp1043Gly) | dbSNP |
16 | g.23603655T>G | CA395138366 | PALB2 | c.3371A>C (p.Asp1124Ala) c.*850A>C (n.*850A>C) c.3216A>C (p.Ter1072Cys) c.3209A>C (p.Asp1070Ala) c.2480A>C (p.Asp827Ala) n.4712A>C c.2331A>C (p.Ter777Cys) c.2318A>C (p.Asp773Ala) n.3885A>C n.2569A>C n.2060A>C c.*142A>C (n.*142A>C) c.899A>C (p.Asp300Ala) c.3365A>C (p.Asp1122Ala) c.131A>C c.3222A>C (p.Ter1074Cys) n.4073A>C c.3134A>C (p.Asp1045Ala) c.3128A>C (p.Asp1043Ala) | |
16 | g.23603655T= | CA2213424662 | PALB2 | c.3371A= (p.Asp1124=) c.*850A= (n.*850A=) c.3216A= (p.Ter1072=) c.3209A= (p.Asp1070=) c.2480A= (p.Asp827=) n.4712A= c.2331A= (p.Ter777=) c.2318A= (p.Asp773=) n.3885A= n.2569A= n.2060A= c.*142A= (n.*142A=) c.899A= (p.Asp300=) c.3365A= (p.Asp1122=) c.131A= c.3222A= (p.Ter1074=) n.4073A= c.3134A= (p.Asp1045=) c.3128A= (p.Asp1043=) | |
16 | g.23603656C>A | CA395138368 | PALB2 | c.3370G>T (p.Asp1124Tyr) c.*849G>T (n.*849G>T) c.3215G>T (p.Ter1072Leu) c.3208G>T (p.Asp1070Tyr) c.2479G>T (p.Asp827Tyr) n.4711G>T c.2330G>T (p.Ter777Leu) c.2317G>T (p.Asp773Tyr) n.3884G>T n.2568G>T n.2059G>T c.*141G>T (n.*141G>T) c.898G>T (p.Asp300Tyr) c.3364G>T (p.Asp1122Tyr) c.130G>T c.3221G>T (p.Ter1074Leu) n.4072G>T c.3133G>T (p.Asp1045Tyr) c.3127G>T (p.Asp1043Tyr) | |
16 | g.23603656C= | CA2213424668 | PALB2 | c.3370G= (p.Asp1124=) c.*849G= (n.*849G=) c.3215G= (p.Ter1072=) c.3208G= (p.Asp1070=) c.2479G= (p.Asp827=) n.4711G= c.2330G= (p.Ter777=) c.2317G= (p.Asp773=) n.3884G= n.2568G= n.2059G= c.*141G= (n.*141G=) c.898G= (p.Asp300=) c.3364G= (p.Asp1122=) c.130G= c.3221G= (p.Ter1074=) n.4072G= c.3133G= (p.Asp1045=) c.3127G= (p.Asp1043=) | |
16 | g.23603656C>G | CA395138370 | PALB2 | c.3370G>C (p.Asp1124His) c.*849G>C (n.*849G>C) c.3215G>C (p.Ter1072Ser) c.3208G>C (p.Asp1070His) c.2479G>C (p.Asp827His) n.4711G>C c.2330G>C (p.Ter777Ser) c.2317G>C (p.Asp773His) n.3884G>C n.2568G>C n.2059G>C c.*141G>C (n.*141G>C) c.898G>C (p.Asp300His) c.3364G>C (p.Asp1122His) c.130G>C c.3221G>C (p.Ter1074Ser) n.4072G>C c.3133G>C (p.Asp1045His) c.3127G>C (p.Asp1043His) | dbSNP |
16 | g.23603656C>T | CA7963351 | PALB2 | c.3370G>A (p.Asp1124Asn) c.*849G>A (n.*849G>A) c.3215G>A (p.Ter1072=) c.3208G>A (p.Asp1070Asn) c.2479G>A (p.Asp827Asn) n.4711G>A c.2330G>A (p.Ter777=) c.2317G>A (p.Asp773Asn) n.3884G>A n.2568G>A n.2059G>A c.*141G>A (n.*141G>A) c.898G>A (p.Asp300Asn) c.3364G>A (p.Asp1122Asn) c.130G>A c.3221G>A (p.Ter1074=) n.4072G>A c.3133G>A (p.Asp1045Asn) c.3127G>A (p.Asp1043Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23603657A>C | CA494173826 | PALB2 | c.3369T>G (p.Gly1123=) c.*848T>G (n.*848T>G) c.3214T>G (p.Ter1072Gly) c.3207T>G (p.Gly1069=) c.2478T>G (p.Gly826=) n.4710T>G c.2329T>G (p.Ter777Gly) c.2316T>G (p.Gly772=) n.3883T>G n.2567T>G n.2058T>G c.*140T>G (n.*140T>G) c.897T>G (p.Gly299=) c.3363T>G (p.Gly1121=) c.129T>G c.3220T>G (p.Ter1074Gly) n.4071T>G c.3132T>G (p.Gly1044=) c.3126T>G (p.Gly1042=) | dbSNP |
16 | g.23603657A>G | CA494173827 | PALB2 | c.3369T>C (p.Gly1123=) c.*848T>C (n.*848T>C) c.3214T>C (p.Ter1072Arg) c.3207T>C (p.Gly1069=) c.2478T>C (p.Gly826=) n.4710T>C c.2329T>C (p.Ter777Arg) c.2316T>C (p.Gly772=) n.3883T>C n.2567T>C n.2058T>C c.*140T>C (n.*140T>C) c.897T>C (p.Gly299=) c.3363T>C (p.Gly1121=) c.129T>C c.3220T>C (p.Ter1074Arg) n.4071T>C c.3132T>C (p.Gly1044=) c.3126T>C (p.Gly1042=) | |
16 | g.23603657A>T | CA494173828 | PALB2 | c.3369T>A (p.Gly1123=) c.*848T>A (n.*848T>A) c.3214T>A (p.Ter1072Arg) c.3207T>A (p.Gly1069=) c.2478T>A (p.Gly826=) n.4710T>A c.2329T>A (p.Ter777Arg) c.2316T>A (p.Gly772=) n.3883T>A n.2567T>A n.2058T>A c.*140T>A (n.*140T>A) c.897T>A (p.Gly299=) c.3363T>A (p.Gly1121=) c.129T>A c.3220T>A (p.Ter1074Arg) n.4071T>A c.3132T>A (p.Gly1044=) c.3126T>A (p.Gly1042=) | dbSNP |
16 | g.23603657_23603658delinsAC | CA2213424675 | PALB2 | c.3368_3369delinsGT (p.Gly1123=) c.*847_*848delinsGT (n.*847_*848delinsGT) c.3213_3214delinsGT (p.Arg1071=) c.3206_3207delinsGT (p.Gly1069=) c.2477_2478delinsGT (p.Gly826=) n.4709_4710delinsGT c.2328_2329delinsGT (p.Arg776=) c.2315_2316delinsGT (p.Gly772=) n.3882_3883delinsGT n.2566_2567delinsGT n.2057_2058delinsGT c.*139_*140delinsGT (n.*139_*140delinsGT) c.896_897delinsGT (p.Gly299=) c.3362_3363delinsGT (p.Gly1121=) c.128_129delinsGT c.3219_3220delinsGT (p.Arg1073=) n.4070_4071delinsGT c.3131_3132delinsGT (p.Gly1044=) c.3125_3126delinsGT (p.Gly1042=) |