WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.23603548G>A | CA395138015 | PALB2 | c.3478C>T (p.His1160Tyr) c.*957C>T (n.*957C>T) c.*107C>T (n.*107C>T) c.3316C>T (p.His1106Tyr) c.2587C>T (p.His863Tyr) n.4819C>T c.2425C>T (p.His809Tyr) n.3992C>T n.2676C>T n.2167C>T c.*249C>T (n.*249C>T) c.1006C>T (p.His336Tyr) c.3472C>T (p.His1158Tyr) c.238C>T n.4180C>T c.3241C>T (p.His1081Tyr) c.3235C>T (p.His1079Tyr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603548G>C | CA395138016 | PALB2 | c.3478C>G (p.His1160Asp) c.*957C>G (n.*957C>G) c.*107C>G (n.*107C>G) c.3316C>G (p.His1106Asp) c.2587C>G (p.His863Asp) n.4819C>G c.2425C>G (p.His809Asp) n.3992C>G n.2676C>G n.2167C>G c.*249C>G (n.*249C>G) c.1006C>G (p.His336Asp) c.3472C>G (p.His1158Asp) c.238C>G n.4180C>G c.3241C>G (p.His1081Asp) c.3235C>G (p.His1079Asp) | dbSNP |
| 16 | g.23603548G>T | CA395138018 | PALB2 | c.3478C>A (p.His1160Asn) c.*957C>A (n.*957C>A) c.*107C>A (n.*107C>A) c.3316C>A (p.His1106Asn) c.2587C>A (p.His863Asn) n.4819C>A c.2425C>A (p.His809Asn) n.3992C>A n.2676C>A n.2167C>A c.*249C>A (n.*249C>A) c.1006C>A (p.His336Asn) c.3472C>A (p.His1158Asn) c.238C>A n.4180C>A c.3241C>A (p.His1081Asn) c.3235C>A (p.His1079Asn) | |
| 16 | g.23603549T>A | CA10579914 | PALB2 | c.3477A>T (p.Gln1159His) c.*956A>T (n.*956A>T) c.*106A>T (n.*106A>T) c.3315A>T (p.Gln1105His) c.2586A>T (p.Gln862His) n.4818A>T c.2424A>T (p.Gln808His) n.3991A>T n.2675A>T n.2166A>T c.*248A>T (n.*248A>T) c.1005A>T (p.Gln335His) c.3471A>T (p.Gln1157His) c.237A>T n.4179A>T c.3240A>T (p.Gln1080His) c.3234A>T (p.Gln1078His) | ClinVar dbSNP |
| 16 | g.23603549T>C | CA494173585 | PALB2 | c.3477A>G (p.Gln1159=) c.*956A>G (n.*956A>G) c.*106A>G (n.*106A>G) c.3315A>G (p.Gln1105=) c.2586A>G (p.Gln862=) n.4818A>G c.2424A>G (p.Gln808=) n.3991A>G n.2675A>G n.2166A>G c.*248A>G (n.*248A>G) c.1005A>G (p.Gln335=) c.3471A>G (p.Gln1157=) c.237A>G n.4179A>G c.3240A>G (p.Gln1080=) c.3234A>G (p.Gln1078=) | ClinVar dbSNP |
| 16 | g.23603549T>G | CA395138021 | PALB2 | c.3477A>C (p.Gln1159His) c.*956A>C (n.*956A>C) c.*106A>C (n.*106A>C) c.3315A>C (p.Gln1105His) c.2586A>C (p.Gln862His) n.4818A>C c.2424A>C (p.Gln808His) n.3991A>C n.2675A>C n.2166A>C c.*248A>C (n.*248A>C) c.1005A>C (p.Gln335His) c.3471A>C (p.Gln1157His) c.237A>C n.4179A>C c.3240A>C (p.Gln1080His) c.3234A>C (p.Gln1078His) | ClinVar dbSNP |
| 16 | g.23603549T= | CA2213424388 | PALB2 | c.3477A= (p.Gln1159=) c.*956A= (n.*956A=) c.*106A= (n.*106A=) c.3315A= (p.Gln1105=) c.2586A= (p.Gln862=) n.4818A= c.2424A= (p.Gln808=) n.3991A= n.2675A= n.2166A= c.*248A= (n.*248A=) c.1005A= (p.Gln335=) c.3471A= (p.Gln1157=) c.237A= n.4179A= c.3240A= (p.Gln1080=) c.3234A= (p.Gln1078=) | |
| 16 | g.23603550T>A | CA395138023 | PALB2 | c.3476A>T (p.Gln1159Leu) c.*955A>T (n.*955A>T) c.*105A>T (n.*105A>T) c.3314A>T (p.Gln1105Leu) c.2585A>T (p.Gln862Leu) n.4817A>T c.2423A>T (p.Gln808Leu) n.3990A>T n.2674A>T n.2165A>T c.*247A>T (n.*247A>T) c.1004A>T (p.Gln335Leu) c.3470A>T (p.Gln1157Leu) c.236A>T n.4178A>T c.3239A>T (p.Gln1080Leu) c.3233A>T (p.Gln1078Leu) | |
| 16 | g.23603550T>C | CA395138025 | PALB2 | c.3476A>G (p.Gln1159Arg) c.*955A>G (n.*955A>G) c.*105A>G (n.*105A>G) c.3314A>G (p.Gln1105Arg) c.2585A>G (p.Gln862Arg) n.4817A>G c.2423A>G (p.Gln808Arg) n.3990A>G n.2674A>G n.2165A>G c.*247A>G (n.*247A>G) c.1004A>G (p.Gln335Arg) c.3470A>G (p.Gln1157Arg) c.236A>G n.4178A>G c.3239A>G (p.Gln1080Arg) c.3233A>G (p.Gln1078Arg) | ClinVar |
| 16 | g.23603550T>G | CA395138026 | PALB2 | c.3476A>C (p.Gln1159Pro) c.*955A>C (n.*955A>C) c.*105A>C (n.*105A>C) c.3314A>C (p.Gln1105Pro) c.2585A>C (p.Gln862Pro) n.4817A>C c.2423A>C (p.Gln808Pro) n.3990A>C n.2674A>C n.2165A>C c.*247A>C (n.*247A>C) c.1004A>C (p.Gln335Pro) c.3470A>C (p.Gln1157Pro) c.236A>C n.4178A>C c.3239A>C (p.Gln1080Pro) c.3233A>C (p.Gln1078Pro) | ClinVar dbSNP |
| 16 | g.23603550T= | CA2213424391 | PALB2 | c.3476A= (p.Gln1159=) c.*955A= (n.*955A=) c.*105A= (n.*105A=) c.3314A= (p.Gln1105=) c.2585A= (p.Gln862=) n.4817A= c.2423A= (p.Gln808=) n.3990A= n.2674A= n.2165A= c.*247A= (n.*247A=) c.1004A= (p.Gln335=) c.3470A= (p.Gln1157=) c.236A= n.4178A= c.3239A= (p.Gln1080=) c.3233A= (p.Gln1078=) | |
| 16 | g.23603551G>A | CA395138028 | PALB2 | c.3475C>T (p.Gln1159Ter) c.*954C>T (n.*954C>T) c.*104C>T (n.*104C>T) c.3313C>T (p.Gln1105Ter) c.2584C>T (p.Gln862Ter) n.4816C>T c.2422C>T (p.Gln808Ter) n.3989C>T n.2673C>T n.2164C>T c.*246C>T (n.*246C>T) c.1003C>T (p.Gln335Ter) c.3469C>T (p.Gln1157Ter) c.235C>T n.4177C>T c.3238C>T (p.Gln1080Ter) c.3232C>T (p.Gln1078Ter) | ClinVar dbSNP |
| 16 | g.23603551G>C | CA395138029 | PALB2 | c.3475C>G (p.Gln1159Glu) c.*954C>G (n.*954C>G) c.*104C>G (n.*104C>G) c.3313C>G (p.Gln1105Glu) c.2584C>G (p.Gln862Glu) n.4816C>G c.2422C>G (p.Gln808Glu) n.3989C>G n.2673C>G n.2164C>G c.*246C>G (n.*246C>G) c.1003C>G (p.Gln335Glu) c.3469C>G (p.Gln1157Glu) c.235C>G n.4177C>G c.3238C>G (p.Gln1080Glu) c.3232C>G (p.Gln1078Glu) | ClinVar dbSNP |
| 16 | g.23603551G= | CA2213424393 | PALB2 | c.3475C= (p.Gln1159=) c.*954C= (n.*954C=) c.*104C= (n.*104C=) c.3313C= (p.Gln1105=) c.2584C= (p.Gln862=) n.4816C= c.2422C= (p.Gln808=) n.3989C= n.2673C= n.2164C= c.*246C= (n.*246C=) c.1003C= (p.Gln335=) c.3469C= (p.Gln1157=) c.235C= n.4177C= c.3238C= (p.Gln1080=) c.3232C= (p.Gln1078=) | |
| 16 | g.23603551G>T | CA395138031 | PALB2 | c.3475C>A (p.Gln1159Lys) c.*954C>A (n.*954C>A) c.*104C>A (n.*104C>A) c.3313C>A (p.Gln1105Lys) c.2584C>A (p.Gln862Lys) n.4816C>A c.2422C>A (p.Gln808Lys) n.3989C>A n.2673C>A n.2164C>A c.*246C>A (n.*246C>A) c.1003C>A (p.Gln335Lys) c.3469C>A (p.Gln1157Lys) c.235C>A n.4177C>A c.3238C>A (p.Gln1080Lys) c.3232C>A (p.Gln1078Lys) | dbSNP |
| 16 | g.23603552G>A | CA494173590 | PALB2 | c.3474C>T (p.Asp1158=) c.*953C>T (n.*953C>T) c.*103C>T (n.*103C>T) c.3312C>T (p.Asp1104=) c.2583C>T (p.Asp861=) n.4815C>T c.2421C>T (p.Asp807=) n.3988C>T n.2672C>T n.2163C>T c.*245C>T (n.*245C>T) c.1002C>T (p.Asp334=) c.3468C>T (p.Asp1156=) c.234C>T n.4176C>T c.3237C>T (p.Asp1079=) c.3231C>T (p.Asp1077=) | dbSNP |
| 16 | g.23603552G>C | CA395138034 | PALB2 | c.3474C>G (p.Asp1158Glu) c.*953C>G (n.*953C>G) c.*103C>G (n.*103C>G) c.3312C>G (p.Asp1104Glu) c.2583C>G (p.Asp861Glu) n.4815C>G c.2421C>G (p.Asp807Glu) n.3988C>G n.2672C>G n.2163C>G c.*245C>G (n.*245C>G) c.1002C>G (p.Asp334Glu) c.3468C>G (p.Asp1156Glu) c.234C>G n.4176C>G c.3237C>G (p.Asp1079Glu) c.3231C>G (p.Asp1077Glu) | dbSNP gnomAD v4 |
| 16 | g.23603552G>T | CA395138033 | PALB2 | c.3474C>A (p.Asp1158Glu) c.*953C>A (n.*953C>A) c.*103C>A (n.*103C>A) c.3312C>A (p.Asp1104Glu) c.2583C>A (p.Asp861Glu) n.4815C>A c.2421C>A (p.Asp807Glu) n.3988C>A n.2672C>A n.2163C>A c.*245C>A (n.*245C>A) c.1002C>A (p.Asp334Glu) c.3468C>A (p.Asp1156Glu) c.234C>A n.4176C>A c.3237C>A (p.Asp1079Glu) c.3231C>A (p.Asp1077Glu) | |
| 16 | g.23603553T>A | CA395138036 | PALB2 | c.3473A>T (p.Asp1158Val) c.*952A>T (n.*952A>T) c.*102A>T (n.*102A>T) c.3311A>T (p.Asp1104Val) c.2582A>T (p.Asp861Val) n.4814A>T c.2420A>T (p.Asp807Val) n.3987A>T n.2671A>T n.2162A>T c.*244A>T (n.*244A>T) c.1001A>T (p.Asp334Val) c.3467A>T (p.Asp1156Val) c.233A>T n.4175A>T c.3236A>T (p.Asp1079Val) c.3230A>T (p.Asp1077Val) | dbSNP |
| 16 | g.23603553T>C | CA395138038 | PALB2 | c.3473A>G (p.Asp1158Gly) c.*952A>G (n.*952A>G) c.*102A>G (n.*102A>G) c.3311A>G (p.Asp1104Gly) c.2582A>G (p.Asp861Gly) n.4814A>G c.2420A>G (p.Asp807Gly) n.3987A>G n.2671A>G n.2162A>G c.*244A>G (n.*244A>G) c.1001A>G (p.Asp334Gly) c.3467A>G (p.Asp1156Gly) c.233A>G n.4175A>G c.3236A>G (p.Asp1079Gly) c.3230A>G (p.Asp1077Gly) | dbSNP |
| 16 | g.23603553T>G | CA395138040 | PALB2 | c.3473A>C (p.Asp1158Ala) c.*952A>C (n.*952A>C) c.*102A>C (n.*102A>C) c.3311A>C (p.Asp1104Ala) c.2582A>C (p.Asp861Ala) n.4814A>C c.2420A>C (p.Asp807Ala) n.3987A>C n.2671A>C n.2162A>C c.*244A>C (n.*244A>C) c.1001A>C (p.Asp334Ala) c.3467A>C (p.Asp1156Ala) c.233A>C n.4175A>C c.3236A>C (p.Asp1079Ala) c.3230A>C (p.Asp1077Ala) | |
| 16 | g.23603554C>A | CA395138042 | PALB2 | c.3472G>T (p.Asp1158Tyr) c.*951G>T (n.*951G>T) c.*101G>T (n.*101G>T) c.3310G>T (p.Asp1104Tyr) c.2581G>T (p.Asp861Tyr) n.4813G>T c.2419G>T (p.Asp807Tyr) n.3986G>T n.2670G>T n.2161G>T c.*243G>T (n.*243G>T) c.1000G>T (p.Asp334Tyr) c.3466G>T (p.Asp1156Tyr) c.232G>T n.4174G>T c.3235G>T (p.Asp1079Tyr) c.3229G>T (p.Asp1077Tyr) | |
| 16 | g.23603554C>G | CA395138044 | PALB2 | c.3472G>C (p.Asp1158His) c.*951G>C (n.*951G>C) c.*101G>C (n.*101G>C) c.3310G>C (p.Asp1104His) c.2581G>C (p.Asp861His) n.4813G>C c.2419G>C (p.Asp807His) n.3986G>C n.2670G>C n.2161G>C c.*243G>C (n.*243G>C) c.1000G>C (p.Asp334His) c.3466G>C (p.Asp1156His) c.232G>C n.4174G>C c.3235G>C (p.Asp1079His) c.3229G>C (p.Asp1077His) | dbSNP COSMIC |
| 16 | g.23603554C>T | CA395138046 | PALB2 | c.3472G>A (p.Asp1158Asn) c.*951G>A (n.*951G>A) c.*101G>A (n.*101G>A) c.3310G>A (p.Asp1104Asn) c.2581G>A (p.Asp861Asn) n.4813G>A c.2419G>A (p.Asp807Asn) n.3986G>A n.2670G>A n.2161G>A c.*243G>A (n.*243G>A) c.1000G>A (p.Asp334Asn) c.3466G>A (p.Asp1156Asn) c.232G>A n.4174G>A c.3235G>A (p.Asp1079Asn) c.3229G>A (p.Asp1077Asn) | dbSNP |
| 16 | g.23603555A= | CA2213424396 | PALB2 | c.3471T= (p.Ser1157=) c.*950T= (n.*950T=) c.*100T= (n.*100T=) c.3309T= (p.Ser1103=) c.2580T= (p.Ser860=) n.4812T= c.2418T= (p.Ser806=) n.3985T= n.2669T= n.2160T= c.*242T= (n.*242T=) c.999T= (p.Ser333=) c.3465T= (p.Ser1155=) c.231T= n.4173T= c.3234T= (p.Ser1078=) c.3228T= (p.Ser1076=) | |
| 16 | g.23603555A>C | CA494173594 | PALB2 | c.3471T>G (p.Ser1157=) c.*950T>G (n.*950T>G) c.*100T>G (n.*100T>G) c.3309T>G (p.Ser1103=) c.2580T>G (p.Ser860=) n.4812T>G c.2418T>G (p.Ser806=) n.3985T>G n.2669T>G n.2160T>G c.*242T>G (n.*242T>G) c.999T>G (p.Ser333=) c.3465T>G (p.Ser1155=) c.231T>G n.4173T>G c.3234T>G (p.Ser1078=) c.3228T>G (p.Ser1076=) | |
| 16 | g.23603555A>G | CA494173596 | PALB2 | c.3471T>C (p.Ser1157=) c.*950T>C (n.*950T>C) c.*100T>C (n.*100T>C) c.3309T>C (p.Ser1103=) c.2580T>C (p.Ser860=) n.4812T>C c.2418T>C (p.Ser806=) n.3985T>C n.2669T>C n.2160T>C c.*242T>C (n.*242T>C) c.999T>C (p.Ser333=) c.3465T>C (p.Ser1155=) c.231T>C n.4173T>C c.3234T>C (p.Ser1078=) c.3228T>C (p.Ser1076=) | ClinVar dbSNP |
| 16 | g.23603555A>T | CA494173597 | PALB2 | c.3471T>A (p.Ser1157=) c.*950T>A (n.*950T>A) c.*100T>A (n.*100T>A) c.3309T>A (p.Ser1103=) c.2580T>A (p.Ser860=) n.4812T>A c.2418T>A (p.Ser806=) n.3985T>A n.2669T>A n.2160T>A c.*242T>A (n.*242T>A) c.999T>A (p.Ser333=) c.3465T>A (p.Ser1155=) c.231T>A n.4173T>A c.3234T>A (p.Ser1078=) c.3228T>A (p.Ser1076=) | dbSNP |
| 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.23603556G>A | CA395138048 | PALB2 | c.3470C>T (p.Ser1157Phe) c.*949C>T (n.*949C>T) c.*99C>T (n.*99C>T) c.3308C>T (p.Ser1103Phe) c.2579C>T (p.Ser860Phe) n.4811C>T c.2417C>T (p.Ser806Phe) n.3984C>T n.2668C>T n.2159C>T c.*241C>T (n.*241C>T) c.998C>T (p.Ser333Phe) c.3464C>T (p.Ser1155Phe) c.230C>T n.4172C>T c.3233C>T (p.Ser1078Phe) c.3227C>T (p.Ser1076Phe) | ClinVar dbSNP |
| 16 | g.23603556G>C | CA7963332 | PALB2 | c.3470C>G (p.Ser1157Cys) c.*949C>G (n.*949C>G) c.*99C>G (n.*99C>G) c.3308C>G (p.Ser1103Cys) c.2579C>G (p.Ser860Cys) n.4811C>G c.2417C>G (p.Ser806Cys) n.3984C>G n.2668C>G n.2159C>G c.*241C>G (n.*241C>G) c.998C>G (p.Ser333Cys) c.3464C>G (p.Ser1155Cys) c.230C>G n.4172C>G c.3233C>G (p.Ser1078Cys) c.3227C>G (p.Ser1076Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.23603556G= | CA2213424398 | PALB2 | c.3470C= (p.Ser1157=) c.*949C= (n.*949C=) c.*99C= (n.*99C=) c.3308C= (p.Ser1103=) c.2579C= (p.Ser860=) n.4811C= c.2417C= (p.Ser806=) n.3984C= n.2668C= n.2159C= c.*241C= (n.*241C=) c.998C= (p.Ser333=) c.3464C= (p.Ser1155=) c.230C= n.4172C= c.3233C= (p.Ser1078=) c.3227C= (p.Ser1076=) | |
| 16 | g.23603556G>T | CA395138050 | PALB2 | c.3470C>A (p.Ser1157Tyr) c.*949C>A (n.*949C>A) c.*99C>A (n.*99C>A) c.3308C>A (p.Ser1103Tyr) c.2579C>A (p.Ser860Tyr) n.4811C>A c.2417C>A (p.Ser806Tyr) n.3984C>A n.2668C>A n.2159C>A c.*241C>A (n.*241C>A) c.998C>A (p.Ser333Tyr) c.3464C>A (p.Ser1155Tyr) c.230C>A n.4172C>A c.3233C>A (p.Ser1078Tyr) c.3227C>A (p.Ser1076Tyr) | |
| 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) |