UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23602213_23606806dup | CA645372597 | ClinVar | ||
| 16 | g.23603447_23603468delinsCTTTACCCTAACTTATGAATAG | CA2213424234 | PALB2 | c.3558_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3558_*12delinsCTATTCATAAGTTAGGGTAAAG;His1186=]) c.*1037_*1058delinsCTATTCATAAGTTAGGGTAAAG (n.*1037_*1058delinsCTATTCATAAGTTAGGGTAAAG) c.*187_*208delinsCTATTCATAAGTTAGGGTAAAG (n.*187_*208delinsCTATTCATAAGTTAGGGTAAAG) c.3396_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3396_*12delinsCTATTCATAAGTTAGGGTAAAG;His1132=]) c.2667_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.2667_*12delinsCTATTCATAAGTTAGGGTAAAG;His889=]) n.4899_4920delinsCTATTCATAAGTTAGGGTAAAG c.2505_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.2505_*12delinsCTATTCATAAGTTAGGGTAAAG;His835=]) n.4072_4093delinsCTATTCATAAGTTAGGGTAAAG n.2756_2777delinsCTATTCATAAGTTAGGGTAAAG n.2247_2268delinsCTATTCATAAGTTAGGGTAAAG c.*329_*350delinsCTATTCATAAGTTAGGGTAAAG (n.*329_*350delinsCTATTCATAAGTTAGGGTAAAG) c.1086_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.1086_*12delinsCTATTCATAAGTTAGGGTAAAG;His362=]) c.3552_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3552_*12delinsCTATTCATAAGTTAGGGTAAAG;His1184=]) c.318_339delinsCTATTCATAAGTTAGGGTAAAG n.4260_4281delinsCTATTCATAAGTTAGGGTAAAG c.3321_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3321_*12delinsCTATTCATAAGTTAGGGTAAAG;His1107=]) c.3315_*12delinsCTATTCATAAGTTAGGGTAAAG (n.[c.3315_*12delinsCTATTCATAAGTTAGGGTAAAG;His1105=]) | |
| 16 | g.23603449_23603469del | CA1139664608 | PALB2 | c.3558_*11del (n.[c.3558_*11del;His1186GlnfsTer2]) c.*1037_*1057del (n.*1037_*1057del) c.*187_*207del (n.*187_*207del) c.3396_*11del (n.[c.3396_*11del;His1132GlnfsTer2]) c.2667_*11del (n.[c.2667_*11del;His889GlnfsTer2]) n.4899_4919del c.2505_*11del (n.[c.2505_*11del;His835GlnfsTer2]) n.4072_4092del n.2756_2776del n.2247_2267del c.*329_*349del (n.*329_*349del) c.1086_*11del (n.[c.1086_*11del;His362GlnfsTer2]) c.3552_*11del (n.[c.3552_*11del;His1184GlnfsTer2]) c.318_338del n.4260_4280del c.3321_*11del (n.[c.3321_*11del;His1107GlnfsTer2]) c.3315_*11del (n.[c.3315_*11del;His1105GlnfsTer2]) | ClinVar dbSNP |
| 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.23603465_23603473dup | CA2580091229 | PALB2 | c.3554_3562dup (p.Tyr1187_Ser1188insTyrHisTyr) c.*1033_*1041dup (n.*1033_*1041dup) c.*183_*191dup (n.*183_*191dup) c.3392_3400dup (p.Tyr1133_Ser1134insTyrHisTyr) c.2663_2671dup (p.Tyr890_Ser891insTyrHisTyr) n.4895_4903dup c.2501_2509dup (p.Tyr836_Ser837insTyrHisTyr) n.4068_4076dup n.2752_2760dup n.2243_2251dup c.*325_*333dup (n.*325_*333dup) c.1082_1090dup (p.Tyr363_Ser364insTyrHisTyr) c.3548_3556dup (p.Tyr1185_Ser1186insTyrHisTyr) c.314_322dup n.4256_4264dup c.3317_3325dup (p.Tyr1108_Ser1109insTyrHisTyr) c.3311_3319dup (p.Tyr1106_Ser1107insTyrHisTyr) | ClinVar |
| 16 | g.23603467A= | CA2213424249 | PALB2 | c.3559T= (p.Tyr1187=) c.*1038T= (n.*1038T=) c.*188T= (n.*188T=) c.3397T= (p.Tyr1133=) c.2668T= (p.Tyr890=) n.4900T= c.2506T= (p.Tyr836=) n.4073T= n.2757T= n.2248T= c.*330T= (n.*330T=) c.1087T= (p.Tyr363=) c.3553T= (p.Tyr1185=) c.319T= n.4261T= c.3322T= (p.Tyr1108=) c.3316T= (p.Tyr1106=) | |
| 16 | g.23603467A>C | CA395137616 | PALB2 | c.3559T>G (p.Tyr1187Asp) c.*1038T>G (n.*1038T>G) c.*188T>G (n.*188T>G) c.3397T>G (p.Tyr1133Asp) c.2668T>G (p.Tyr890Asp) n.4900T>G c.2506T>G (p.Tyr836Asp) n.4073T>G n.2757T>G n.2248T>G c.*330T>G (n.*330T>G) c.1087T>G (p.Tyr363Asp) c.3553T>G (p.Tyr1185Asp) c.319T>G n.4261T>G c.3322T>G (p.Tyr1108Asp) c.3316T>G (p.Tyr1106Asp) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603467A>G | CA10583348 | PALB2 | c.3559T>C (p.Tyr1187His) c.*1038T>C (n.*1038T>C) c.*188T>C (n.*188T>C) c.3397T>C (p.Tyr1133His) c.2668T>C (p.Tyr890His) n.4900T>C c.2506T>C (p.Tyr836His) n.4073T>C n.2757T>C n.2248T>C c.*330T>C (n.*330T>C) c.1087T>C (p.Tyr363His) c.3553T>C (p.Tyr1185His) c.319T>C n.4261T>C c.3322T>C (p.Tyr1108His) c.3316T>C (p.Tyr1106His) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603467A>T | CA395137626 | PALB2 | c.3559T>A (p.Tyr1187Asn) c.*1038T>A (n.*1038T>A) c.*188T>A (n.*188T>A) c.3397T>A (p.Tyr1133Asn) c.2668T>A (p.Tyr890Asn) n.4900T>A c.2506T>A (p.Tyr836Asn) n.4073T>A n.2757T>A n.2248T>A c.*330T>A (n.*330T>A) c.1087T>A (p.Tyr363Asn) c.3553T>A (p.Tyr1185Asn) c.319T>A n.4261T>A c.3322T>A (p.Tyr1108Asn) c.3316T>A (p.Tyr1106Asn) | dbSNP |
| 16 | g.23603468G>A | CA494173488 | PALB2 | c.3558C>T (p.His1186=) c.*1037C>T (n.*1037C>T) c.*187C>T (n.*187C>T) c.3396C>T (p.His1132=) c.2667C>T (p.His889=) n.4899C>T c.2505C>T (p.His835=) n.4072C>T n.2756C>T n.2247C>T c.*329C>T (n.*329C>T) c.1086C>T (p.His362=) c.3552C>T (p.His1184=) c.318C>T n.4260C>T c.3321C>T (p.His1107=) c.3315C>T (p.His1105=) | dbSNP |
| 16 | g.23603468G>C | CA395137630 | PALB2 | c.3558C>G (p.His1186Gln) c.*1037C>G (n.*1037C>G) c.*187C>G (n.*187C>G) c.3396C>G (p.His1132Gln) c.2667C>G (p.His889Gln) n.4899C>G c.2505C>G (p.His835Gln) n.4072C>G n.2756C>G n.2247C>G c.*329C>G (n.*329C>G) c.1086C>G (p.His362Gln) c.3552C>G (p.His1184Gln) c.318C>G n.4260C>G c.3321C>G (p.His1107Gln) c.3315C>G (p.His1105Gln) | ClinVar dbSNP |
| 16 | g.23603468G= | CA2213424254 | PALB2 | c.3558C= (p.His1186=) c.*1037C= (n.*1037C=) c.*187C= (n.*187C=) c.3396C= (p.His1132=) c.2667C= (p.His889=) n.4899C= c.2505C= (p.His835=) n.4072C= n.2756C= n.2247C= c.*329C= (n.*329C=) c.1086C= (p.His362=) c.3552C= (p.His1184=) c.318C= n.4260C= c.3321C= (p.His1107=) c.3315C= (p.His1105=) | |
| 16 | g.23603468G>T | CA395137631 | PALB2 | c.3558C>A (p.His1186Gln) c.*1037C>A (n.*1037C>A) c.*187C>A (n.*187C>A) c.3396C>A (p.His1132Gln) c.2667C>A (p.His889Gln) n.4899C>A c.2505C>A (p.His835Gln) n.4072C>A n.2756C>A n.2247C>A c.*329C>A (n.*329C>A) c.1086C>A (p.His362Gln) c.3552C>A (p.His1184Gln) c.318C>A n.4260C>A c.3321C>A (p.His1107Gln) c.3315C>A (p.His1105Gln) | dbSNP |
| 16 | g.23603468_23603469delinsGT | CA2213424253 | PALB2 | c.3557_3558delinsAC (p.His1186=) c.*1036_*1037delinsAC (n.*1036_*1037delinsAC) c.*186_*187delinsAC (n.*186_*187delinsAC) c.3395_3396delinsAC (p.His1132=) c.2666_2667delinsAC (p.His889=) n.4898_4899delinsAC c.2504_2505delinsAC (p.His835=) n.4071_4072delinsAC n.2755_2756delinsAC n.2246_2247delinsAC c.*328_*329delinsAC (n.*328_*329delinsAC) c.1085_1086delinsAC (p.His362=) c.3551_3552delinsAC (p.His1184=) c.317_318delinsAC n.4259_4260delinsAC c.3320_3321delinsAC (p.His1107=) c.3314_3315delinsAC (p.His1105=) | |
| 16 | g.23603468_23603471delinsCAAA | CA2695222895 | PALB2 | c.3555_3558delinsTTTG (p.His1186Leu) c.*1034_*1037delinsTTTG (n.*1034_*1037delinsTTTG) c.*184_*187delinsTTTG (n.*184_*187delinsTTTG) c.3393_3396delinsTTTG (p.His1132Leu) c.2664_2667delinsTTTG (p.His889Leu) n.4896_4899delinsTTTG c.2502_2505delinsTTTG (p.His835Leu) n.4069_4072delinsTTTG n.2753_2756delinsTTTG n.2244_2247delinsTTTG c.*326_*329delinsTTTG (n.*326_*329delinsTTTG) c.1083_1086delinsTTTG (p.His362Leu) c.3549_3552delinsTTTG (p.His1184Leu) c.315_318delinsTTTG n.4257_4260delinsTTTG c.3318_3321delinsTTTG (p.His1107Leu) c.3312_3315delinsTTTG (p.His1105Leu) | |
| 16 | g.23603469del | CA915949153 | PALB2 | c.3557del (p.His1186ProfsTer7) c.*1036del (n.*1036del) c.*186del (n.*186del) c.3395del (p.His1132ProfsTer7) c.2666del (p.His889ProfsTer7) n.4898del c.2504del (p.His835ProfsTer7) n.4071del n.2755del n.2246del c.*328del (n.*328del) c.1085del (p.His362ProfsTer7) c.3551del (p.His1184ProfsTer7) c.317del n.4259del c.3320del (p.His1107ProfsTer7) c.3314del (p.His1105ProfsTer7) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603469T>A | CA395137639 | PALB2 | c.3557A>T (p.His1186Leu) c.*1036A>T (n.*1036A>T) c.*186A>T (n.*186A>T) c.3395A>T (p.His1132Leu) c.2666A>T (p.His889Leu) n.4898A>T c.2504A>T (p.His835Leu) n.4071A>T n.2755A>T n.2246A>T c.*328A>T (n.*328A>T) c.1085A>T (p.His362Leu) c.3551A>T (p.His1184Leu) c.317A>T n.4259A>T c.3320A>T (p.His1107Leu) c.3314A>T (p.His1105Leu) | |
| 16 | g.23603469T>C | CA395137637 | PALB2 | c.3557A>G (p.His1186Arg) c.*1036A>G (n.*1036A>G) c.*186A>G (n.*186A>G) c.3395A>G (p.His1132Arg) c.2666A>G (p.His889Arg) n.4898A>G c.2504A>G (p.His835Arg) n.4071A>G n.2755A>G n.2246A>G c.*328A>G (n.*328A>G) c.1085A>G (p.His362Arg) c.3551A>G (p.His1184Arg) c.317A>G n.4259A>G c.3320A>G (p.His1107Arg) c.3314A>G (p.His1105Arg) | |
| 16 | g.23603469T>G | CA395137634 | PALB2 | c.3557A>C (p.His1186Pro) c.*1036A>C (n.*1036A>C) c.*186A>C (n.*186A>C) c.3395A>C (p.His1132Pro) c.2666A>C (p.His889Pro) n.4898A>C c.2504A>C (p.His835Pro) n.4071A>C n.2755A>C n.2246A>C c.*328A>C (n.*328A>C) c.1085A>C (p.His362Pro) c.3551A>C (p.His1184Pro) c.317A>C n.4259A>C c.3320A>C (p.His1107Pro) c.3314A>C (p.His1105Pro) | |
| 16 | g.23603470G>A | CA7963326 | PALB2 | c.3556C>T (p.His1186Tyr) c.*1035C>T (n.*1035C>T) c.*185C>T (n.*185C>T) c.3394C>T (p.His1132Tyr) c.2665C>T (p.His889Tyr) n.4897C>T c.2503C>T (p.His835Tyr) n.4070C>T n.2754C>T n.2245C>T c.*327C>T (n.*327C>T) c.1084C>T (p.His362Tyr) c.3550C>T (p.His1184Tyr) c.316C>T n.4258C>T c.3319C>T (p.His1107Tyr) c.3313C>T (p.His1105Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.23603470G>C | CA395137643 | PALB2 | c.3556C>G (p.His1186Asp) c.*1035C>G (n.*1035C>G) c.*185C>G (n.*185C>G) c.3394C>G (p.His1132Asp) c.2665C>G (p.His889Asp) n.4897C>G c.2503C>G (p.His835Asp) n.4070C>G n.2754C>G n.2245C>G c.*327C>G (n.*327C>G) c.1084C>G (p.His362Asp) c.3550C>G (p.His1184Asp) c.316C>G n.4258C>G c.3319C>G (p.His1107Asp) c.3313C>G (p.His1105Asp) | |
| 16 | g.23603470G= | CA2213424257 | PALB2 | c.3556C= (p.His1186=) c.*1035C= (n.*1035C=) c.*185C= (n.*185C=) c.3394C= (p.His1132=) c.2665C= (p.His889=) n.4897C= c.2503C= (p.His835=) n.4070C= n.2754C= n.2245C= c.*327C= (n.*327C=) c.1084C= (p.His362=) c.3550C= (p.His1184=) c.316C= n.4258C= c.3319C= (p.His1107=) c.3313C= (p.His1105=) | |
| 16 | g.23603470G>T | CA395137646 | PALB2 | c.3556C>A (p.His1186Asn) c.*1035C>A (n.*1035C>A) c.*185C>A (n.*185C>A) c.3394C>A (p.His1132Asn) c.2665C>A (p.His889Asn) n.4897C>A c.2503C>A (p.His835Asn) n.4070C>A n.2754C>A n.2245C>A c.*327C>A (n.*327C>A) c.1084C>A (p.His362Asn) c.3550C>A (p.His1184Asn) c.316C>A n.4258C>A c.3319C>A (p.His1107Asn) c.3313C>A (p.His1105Asn) | dbSNP COSMIC |
| 16 | g.23603471G>A | CA494173490 | PALB2 | c.3555C>T (p.Tyr1185=) c.*1034C>T (n.*1034C>T) c.*184C>T (n.*184C>T) c.3393C>T (p.Tyr1131=) c.2664C>T (p.Tyr888=) n.4896C>T c.2502C>T (p.Tyr834=) n.4069C>T n.2753C>T n.2244C>T c.*326C>T (n.*326C>T) c.1083C>T (p.Tyr361=) c.3549C>T (p.Tyr1183=) c.315C>T n.4257C>T c.3318C>T (p.Tyr1106=) c.3312C>T (p.Tyr1104=) | ClinVar dbSNP |
| 16 | g.23603471G>C | CA151250 | PALB2 | c.3555C>G (p.Tyr1185Ter) c.*1034C>G (n.*1034C>G) c.*184C>G (n.*184C>G) c.3393C>G (p.Tyr1131Ter) c.2664C>G (p.Tyr888Ter) n.4896C>G c.2502C>G (p.Tyr834Ter) n.4069C>G n.2753C>G n.2244C>G c.*326C>G (n.*326C>G) c.1083C>G (p.Tyr361Ter) c.3549C>G (p.Tyr1183Ter) c.315C>G n.4257C>G c.3318C>G (p.Tyr1106Ter) c.3312C>G (p.Tyr1104Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23603471G= | CA2213424262 | PALB2 | c.3555C= (p.Tyr1185=) c.*1034C= (n.*1034C=) c.*184C= (n.*184C=) c.3393C= (p.Tyr1131=) c.2664C= (p.Tyr888=) n.4896C= c.2502C= (p.Tyr834=) n.4069C= n.2753C= n.2244C= c.*326C= (n.*326C=) c.1083C= (p.Tyr361=) c.3549C= (p.Tyr1183=) c.315C= n.4257C= c.3318C= (p.Tyr1106=) c.3312C= (p.Tyr1104=) | |
| 16 | g.23603471G>T | CA288488 | PALB2 | c.3555C>A (p.Tyr1185Ter) c.*1034C>A (n.*1034C>A) c.*184C>A (n.*184C>A) c.3393C>A (p.Tyr1131Ter) c.2664C>A (p.Tyr888Ter) n.4896C>A c.2502C>A (p.Tyr834Ter) n.4069C>A n.2753C>A n.2244C>A c.*326C>A (n.*326C>A) c.1083C>A (p.Tyr361Ter) c.3549C>A (p.Tyr1183Ter) c.315C>A n.4257C>A c.3318C>A (p.Tyr1106Ter) c.3312C>A (p.Tyr1104Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.23603472T>A | CA395137654 | PALB2 | c.3554A>T (p.Tyr1185Phe) c.*1033A>T (n.*1033A>T) c.*183A>T (n.*183A>T) c.3392A>T (p.Tyr1131Phe) c.2663A>T (p.Tyr888Phe) n.4895A>T c.2501A>T (p.Tyr834Phe) n.4068A>T n.2752A>T n.2243A>T c.*325A>T (n.*325A>T) c.1082A>T (p.Tyr361Phe) c.3548A>T (p.Tyr1183Phe) c.314A>T n.4256A>T c.3317A>T (p.Tyr1106Phe) c.3311A>T (p.Tyr1104Phe) | dbSNP |
| 16 | g.23603472T>C | CA395137656 | PALB2 | c.3554A>G (p.Tyr1185Cys) c.*1033A>G (n.*1033A>G) c.*183A>G (n.*183A>G) c.3392A>G (p.Tyr1131Cys) c.2663A>G (p.Tyr888Cys) n.4895A>G c.2501A>G (p.Tyr834Cys) n.4068A>G n.2752A>G n.2243A>G c.*325A>G (n.*325A>G) c.1082A>G (p.Tyr361Cys) c.3548A>G (p.Tyr1183Cys) c.314A>G n.4256A>G c.3317A>G (p.Tyr1106Cys) c.3311A>G (p.Tyr1104Cys) | dbSNP |
| 16 | g.23603472T>G | CA395137659 | PALB2 | c.3554A>C (p.Tyr1185Ser) c.*1033A>C (n.*1033A>C) c.*183A>C (n.*183A>C) c.3392A>C (p.Tyr1131Ser) c.2663A>C (p.Tyr888Ser) n.4895A>C c.2501A>C (p.Tyr834Ser) n.4068A>C n.2752A>C n.2243A>C c.*325A>C (n.*325A>C) c.1082A>C (p.Tyr361Ser) c.3548A>C (p.Tyr1183Ser) c.314A>C n.4256A>C c.3317A>C (p.Tyr1106Ser) c.3311A>C (p.Tyr1104Ser) | dbSNP |
| 16 | g.23603472T= | CA2213424264 | PALB2 | c.3554A= (p.Tyr1185=) c.*1033A= (n.*1033A=) c.*183A= (n.*183A=) c.3392A= (p.Tyr1131=) c.2663A= (p.Tyr888=) n.4895A= c.2501A= (p.Tyr834=) n.4068A= n.2752A= n.2243A= c.*325A= (n.*325A=) c.1082A= (p.Tyr361=) c.3548A= (p.Tyr1183=) c.314A= n.4256A= c.3317A= (p.Tyr1106=) c.3311A= (p.Tyr1104=) | |
| 16 | g.23603473A= | CA2213424267 | PALB2 | c.3553T= (p.Tyr1185=) c.*1032T= (n.*1032T=) c.*182T= (n.*182T=) c.3391T= (p.Tyr1131=) c.2662T= (p.Tyr888=) n.4894T= c.2500T= (p.Tyr834=) n.4067T= n.2751T= n.2242T= c.*324T= (n.*324T=) c.1081T= (p.Tyr361=) c.3547T= (p.Tyr1183=) c.313T= n.4255T= c.3316T= (p.Tyr1106=) c.3310T= (p.Tyr1104=) | |
| 16 | g.23603473A>C | CA395137660 | PALB2 | c.3553T>G (p.Tyr1185Asp) c.*1032T>G (n.*1032T>G) c.*182T>G (n.*182T>G) c.3391T>G (p.Tyr1131Asp) c.2662T>G (p.Tyr888Asp) n.4894T>G c.2500T>G (p.Tyr834Asp) n.4067T>G n.2751T>G n.2242T>G c.*324T>G (n.*324T>G) c.1081T>G (p.Tyr361Asp) c.3547T>G (p.Tyr1183Asp) c.313T>G n.4255T>G c.3316T>G (p.Tyr1106Asp) c.3310T>G (p.Tyr1104Asp) | ClinVar dbSNP |
| 16 | g.23603473A>G | CA395137663 | PALB2 | c.3553T>C (p.Tyr1185His) c.*1032T>C (n.*1032T>C) c.*182T>C (n.*182T>C) c.3391T>C (p.Tyr1131His) c.2662T>C (p.Tyr888His) n.4894T>C c.2500T>C (p.Tyr834His) n.4067T>C n.2751T>C n.2242T>C c.*324T>C (n.*324T>C) c.1081T>C (p.Tyr361His) c.3547T>C (p.Tyr1183His) c.313T>C n.4255T>C c.3316T>C (p.Tyr1106His) c.3310T>C (p.Tyr1104His) | dbSNP |
| 16 | g.23603473A>T | CA395137666 | PALB2 | c.3553T>A (p.Tyr1185Asn) c.*1032T>A (n.*1032T>A) c.*182T>A (n.*182T>A) c.3391T>A (p.Tyr1131Asn) c.2662T>A (p.Tyr888Asn) n.4894T>A c.2500T>A (p.Tyr834Asn) n.4067T>A n.2751T>A n.2242T>A c.*324T>A (n.*324T>A) c.1081T>A (p.Tyr361Asn) c.3547T>A (p.Tyr1183Asn) c.313T>A n.4255T>A c.3316T>A (p.Tyr1106Asn) c.3310T>A (p.Tyr1104Asn) | dbSNP |
| 16 | g.23603473_23603483delinsCTACATT | CA2695197570 | PALB2 | c.3543_3553delinsAATGTAG (p.Asn1181LysfsTer3) c.*1022_*1032delinsAATGTAG (n.*1022_*1032delinsAATGTAG) c.*172_*182delinsAATGTAG (n.*172_*182delinsAATGTAG) c.3381_3391delinsAATGTAG (p.Asn1127LysfsTer3) c.2652_2662delinsAATGTAG (p.Asn884LysfsTer3) n.4884_4894delinsAATGTAG c.2490_2500delinsAATGTAG (p.Asn830LysfsTer3) n.4057_4067delinsAATGTAG n.2741_2751delinsAATGTAG n.2232_2242delinsAATGTAG c.*314_*324delinsAATGTAG (n.*314_*324delinsAATGTAG) c.1071_1081delinsAATGTAG (p.Asn357LysfsTer3) c.3537_3547delinsAATGTAG (p.Asn1179LysfsTer3) c.303_313delinsAATGTAG n.4245_4255delinsAATGTAG c.3306_3316delinsAATGTAG (p.Asn1102LysfsTer3) c.3300_3310delinsAATGTAG (p.Asn1100LysfsTer3) | ClinVar |
| 16 | g.23603474T>A | CA494173493 | PALB2 | c.3552A>T (p.Val1184=) c.*1031A>T (n.*1031A>T) c.*181A>T (n.*181A>T) c.3390A>T (p.Val1130=) c.2661A>T (p.Val887=) n.4893A>T c.2499A>T (p.Val833=) n.4066A>T n.2750A>T n.2241A>T c.*323A>T (n.*323A>T) c.1080A>T (p.Val360=) c.3546A>T (p.Val1182=) c.312A>T n.4254A>T c.3315A>T (p.Val1105=) c.3309A>T (p.Val1103=) | |
| 16 | g.23603474T>C | CA16615057 | PALB2 | c.3552A>G (p.Val1184=) c.*1031A>G (n.*1031A>G) c.*181A>G (n.*181A>G) c.3390A>G (p.Val1130=) c.2661A>G (p.Val887=) n.4893A>G c.2499A>G (p.Val833=) n.4066A>G n.2750A>G n.2241A>G c.*323A>G (n.*323A>G) c.1080A>G (p.Val360=) c.3546A>G (p.Val1182=) c.312A>G n.4254A>G c.3315A>G (p.Val1105=) c.3309A>G (p.Val1103=) | ClinVar dbSNP |
| 16 | g.23603474T>G | CA494173492 | PALB2 | c.3552A>C (p.Val1184=) c.*1031A>C (n.*1031A>C) c.*181A>C (n.*181A>C) c.3390A>C (p.Val1130=) c.2661A>C (p.Val887=) n.4893A>C c.2499A>C (p.Val833=) n.4066A>C n.2750A>C n.2241A>C c.*323A>C (n.*323A>C) c.1080A>C (p.Val360=) c.3546A>C (p.Val1182=) c.312A>C n.4254A>C c.3315A>C (p.Val1105=) c.3309A>C (p.Val1103=) | |
| 16 | g.23603474T= | CA2213424268 | PALB2 | c.3552A= (p.Val1184=) c.*1031A= (n.*1031A=) c.*181A= (n.*181A=) c.3390A= (p.Val1130=) c.2661A= (p.Val887=) n.4893A= c.2499A= (p.Val833=) n.4066A= n.2750A= n.2241A= c.*323A= (n.*323A=) c.1080A= (p.Val360=) c.3546A= (p.Val1182=) c.312A= n.4254A= c.3315A= (p.Val1105=) c.3309A= (p.Val1103=) | |
| 16 | g.23603475A= | CA2213424270 | PALB2 | c.3551T= (p.Val1184=) c.*1030T= (n.*1030T=) c.*180T= (n.*180T=) c.3389T= (p.Val1130=) c.2660T= (p.Val887=) n.4892T= c.2498T= (p.Val833=) n.4065T= n.2749T= n.2240T= c.*322T= (n.*322T=) c.1079T= (p.Val360=) c.3545T= (p.Val1182=) c.311T= n.4253T= c.3314T= (p.Val1105=) c.3308T= (p.Val1103=) | |
| 16 | g.23603475A>C | CA395137673 | PALB2 | c.3551T>G (p.Val1184Gly) c.*1030T>G (n.*1030T>G) c.*180T>G (n.*180T>G) c.3389T>G (p.Val1130Gly) c.2660T>G (p.Val887Gly) n.4892T>G c.2498T>G (p.Val833Gly) n.4065T>G n.2749T>G n.2240T>G c.*322T>G (n.*322T>G) c.1079T>G (p.Val360Gly) c.3545T>G (p.Val1182Gly) c.311T>G n.4253T>G c.3314T>G (p.Val1105Gly) c.3308T>G (p.Val1103Gly) | |
| 16 | g.23603475A>G | CA196999 | PALB2 | c.3551T>C (p.Val1184Ala) c.*1030T>C (n.*1030T>C) c.*180T>C (n.*180T>C) c.3389T>C (p.Val1130Ala) c.2660T>C (p.Val887Ala) n.4892T>C c.2498T>C (p.Val833Ala) n.4065T>C n.2749T>C n.2240T>C c.*322T>C (n.*322T>C) c.1079T>C (p.Val360Ala) c.3545T>C (p.Val1182Ala) c.311T>C n.4253T>C c.3314T>C (p.Val1105Ala) c.3308T>C (p.Val1103Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23603475A>T | CA395137671 | PALB2 | c.3551T>A (p.Val1184Glu) c.*1030T>A (n.*1030T>A) c.*180T>A (n.*180T>A) c.3389T>A (p.Val1130Glu) c.2660T>A (p.Val887Glu) n.4892T>A c.2498T>A (p.Val833Glu) n.4065T>A n.2749T>A n.2240T>A c.*322T>A (n.*322T>A) c.1079T>A (p.Val360Glu) c.3545T>A (p.Val1182Glu) c.311T>A n.4253T>A c.3314T>A (p.Val1105Glu) c.3308T>A (p.Val1103Glu) | dbSNP |
| 16 | g.23603476_23603477del | CA923726276 | PALB2 | c.3550_3551del (p.Val1184IlefsTer7) c.*1029_*1030del (n.*1029_*1030del) c.*179_*180del (n.*179_*180del) c.3388_3389del (p.Val1130IlefsTer7) c.2659_2660del (p.Val887IlefsTer7) n.4891_4892del c.2497_2498del (p.Val833IlefsTer7) n.4064_4065del n.2748_2749del n.2239_2240del c.*321_*322del (n.*321_*322del) c.1078_1079del (p.Val360IlefsTer7) c.3544_3545del (p.Val1182IlefsTer7) c.310_311del n.4252_4253del c.3313_3314del (p.Val1105IlefsTer7) c.3307_3308del (p.Val1103IlefsTer7) | |
| 16 | g.23603475_23603476insT | CA2739266661 | PALB2 | c.3550_3551insA (p.Val1184AspfsTer8) c.*1029_*1030insA (n.*1029_*1030insA) c.*179_*180insA (n.*179_*180insA) c.3388_3389insA (p.Val1130AspfsTer8) c.2659_2660insA (p.Val887AspfsTer8) n.4891_4892insA c.2497_2498insA (p.Val833AspfsTer8) n.4064_4065insA n.2748_2749insA n.2239_2240insA c.*321_*322insA (n.*321_*322insA) c.1078_1079insA (p.Val360AspfsTer8) c.3544_3545insA (p.Val1182AspfsTer8) c.310_311insA n.4252_4253insA c.3313_3314insA (p.Val1105AspfsTer8) c.3307_3308insA (p.Val1103AspfsTer8) | ClinVar |
| 16 | g.23603476C>A | CA395137675 | PALB2 | c.3550G>T (p.Val1184Leu) c.*1029G>T (n.*1029G>T) c.*179G>T (n.*179G>T) c.3388G>T (p.Val1130Leu) c.2659G>T (p.Val887Leu) n.4891G>T c.2497G>T (p.Val833Leu) n.4064G>T n.2748G>T n.2239G>T c.*321G>T (n.*321G>T) c.1078G>T (p.Val360Leu) c.3544G>T (p.Val1182Leu) c.310G>T n.4252G>T c.3313G>T (p.Val1105Leu) c.3307G>T (p.Val1103Leu) | dbSNP |
| 16 | g.23603476C= | CA2213424276 | PALB2 | c.3550G= (p.Val1184=) c.*1029G= (n.*1029G=) c.*179G= (n.*179G=) c.3388G= (p.Val1130=) c.2659G= (p.Val887=) n.4891G= c.2497G= (p.Val833=) n.4064G= n.2748G= n.2239G= c.*321G= (n.*321G=) c.1078G= (p.Val360=) c.3544G= (p.Val1182=) c.310G= n.4252G= c.3313G= (p.Val1105=) c.3307G= (p.Val1103=) |