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.23603491_23603497delinsTTTTTTTTT | CA2499223397 | PALB2 | c.3529_3535delinsAAAAAAAAA (p.Gln1177LysfsTer17) c.*1008_*1014delinsAAAAAAAAA (n.*1008_*1014delinsAAAAAAAAA) c.*158_*164delinsAAAAAAAAA (n.*158_*164delinsAAAAAAAAA) c.3367_3373delinsAAAAAAAAA (p.Gln1123LysfsTer17) c.2638_2644delinsAAAAAAAAA (p.Gln880LysfsTer17) n.4870_4876delinsAAAAAAAAA c.2476_2482delinsAAAAAAAAA (p.Gln826LysfsTer17) n.4043_4049delinsAAAAAAAAA n.2727_2733delinsAAAAAAAAA n.2218_2224delinsAAAAAAAAA c.*300_*306delinsAAAAAAAAA (n.*300_*306delinsAAAAAAAAA) c.1057_1063delinsAAAAAAAAA (p.Gln353LysfsTer17) c.3523_3529delinsAAAAAAAAA (p.Gln1175LysfsTer17) c.289_295delinsAAAAAAAAA n.4231_4237delinsAAAAAAAAA c.3292_3298delinsAAAAAAAAA (p.Gln1098LysfsTer17) c.3286_3292delinsAAAAAAAAA (p.Gln1096LysfsTer17) | ClinVar dbSNP |
| 16 | g.23603496T>A | CA395137827 | PALB2 | c.3530A>T (p.Gln1177Leu) c.*1009A>T (n.*1009A>T) c.*159A>T (n.*159A>T) c.3368A>T (p.Gln1123Leu) c.2639A>T (p.Gln880Leu) n.4871A>T c.2477A>T (p.Gln826Leu) n.4044A>T n.2728A>T n.2219A>T c.*301A>T (n.*301A>T) c.1058A>T (p.Gln353Leu) c.3524A>T (p.Gln1175Leu) c.290A>T n.4232A>T c.3293A>T (p.Gln1098Leu) c.3287A>T (p.Gln1096Leu) | |
| 16 | g.23603496T>C | CA395137829 | PALB2 | c.3530A>G (p.Gln1177Arg) c.*1009A>G (n.*1009A>G) c.*159A>G (n.*159A>G) c.3368A>G (p.Gln1123Arg) c.2639A>G (p.Gln880Arg) n.4871A>G c.2477A>G (p.Gln826Arg) n.4044A>G n.2728A>G n.2219A>G c.*301A>G (n.*301A>G) c.1058A>G (p.Gln353Arg) c.3524A>G (p.Gln1175Arg) c.290A>G n.4232A>G c.3293A>G (p.Gln1098Arg) c.3287A>G (p.Gln1096Arg) | ClinVar dbSNP |
| 16 | g.23603496T>G | CA395137831 | PALB2 | c.3530A>C (p.Gln1177Pro) c.*1009A>C (n.*1009A>C) c.*159A>C (n.*159A>C) c.3368A>C (p.Gln1123Pro) c.2639A>C (p.Gln880Pro) n.4871A>C c.2477A>C (p.Gln826Pro) n.4044A>C n.2728A>C n.2219A>C c.*301A>C (n.*301A>C) c.1058A>C (p.Gln353Pro) c.3524A>C (p.Gln1175Pro) c.290A>C n.4232A>C c.3293A>C (p.Gln1098Pro) c.3287A>C (p.Gln1096Pro) | |
| 16 | g.23603496T= | CA2213424300 | PALB2 | c.3530A= (p.Gln1177=) c.*1009A= (n.*1009A=) c.*159A= (n.*159A=) c.3368A= (p.Gln1123=) c.2639A= (p.Gln880=) n.4871A= c.2477A= (p.Gln826=) n.4044A= n.2728A= n.2219A= c.*301A= (n.*301A=) c.1058A= (p.Gln353=) c.3524A= (p.Gln1175=) c.290A= n.4232A= c.3293A= (p.Gln1098=) c.3287A= (p.Gln1096=) | |
| 16 | g.23603497G>A | CA395137833 | PALB2 | c.3529C>T (p.Gln1177Ter) c.*1008C>T (n.*1008C>T) c.*158C>T (n.*158C>T) c.3367C>T (p.Gln1123Ter) c.2638C>T (p.Gln880Ter) n.4870C>T c.2476C>T (p.Gln826Ter) n.4043C>T n.2727C>T n.2218C>T c.*300C>T (n.*300C>T) c.1057C>T (p.Gln353Ter) c.3523C>T (p.Gln1175Ter) c.289C>T n.4231C>T c.3292C>T (p.Gln1098Ter) c.3286C>T (p.Gln1096Ter) | ClinVar dbSNP |
| 16 | g.23603497G>C | CA395137835 | PALB2 | c.3529C>G (p.Gln1177Glu) c.*1008C>G (n.*1008C>G) c.*158C>G (n.*158C>G) c.3367C>G (p.Gln1123Glu) c.2638C>G (p.Gln880Glu) n.4870C>G c.2476C>G (p.Gln826Glu) n.4043C>G n.2727C>G n.2218C>G c.*300C>G (n.*300C>G) c.1057C>G (p.Gln353Glu) c.3523C>G (p.Gln1175Glu) c.289C>G n.4231C>G c.3292C>G (p.Gln1098Glu) c.3286C>G (p.Gln1096Glu) | dbSNP |
| 16 | g.23603497G= | CA2213424302 | PALB2 | c.3529C= (p.Gln1177=) c.*1008C= (n.*1008C=) c.*158C= (n.*158C=) c.3367C= (p.Gln1123=) c.2638C= (p.Gln880=) n.4870C= c.2476C= (p.Gln826=) n.4043C= n.2727C= n.2218C= c.*300C= (n.*300C=) c.1057C= (p.Gln353=) c.3523C= (p.Gln1175=) c.289C= n.4231C= c.3292C= (p.Gln1098=) c.3286C= (p.Gln1096=) | |
| 16 | g.23603497G>T | CA395137837 | PALB2 | c.3529C>A (p.Gln1177Lys) c.*1008C>A (n.*1008C>A) c.*158C>A (n.*158C>A) c.3367C>A (p.Gln1123Lys) c.2638C>A (p.Gln880Lys) n.4870C>A c.2476C>A (p.Gln826Lys) n.4043C>A n.2727C>A n.2218C>A c.*300C>A (n.*300C>A) c.1057C>A (p.Gln353Lys) c.3523C>A (p.Gln1175Lys) c.289C>A n.4231C>A c.3292C>A (p.Gln1098Lys) c.3286C>A (p.Gln1096Lys) | dbSNP |
| 16 | g.23603498T>A | CA494173517 | PALB2 | c.3528A>T (p.Gly1176=) c.*1007A>T (n.*1007A>T) c.*157A>T (n.*157A>T) c.3366A>T (p.Gly1122=) c.2637A>T (p.Gly879=) n.4869A>T c.2475A>T (p.Gly825=) n.4042A>T n.2726A>T n.2217A>T c.*299A>T (n.*299A>T) c.1056A>T (p.Gly352=) c.3522A>T (p.Gly1174=) c.288A>T n.4230A>T c.3291A>T (p.Gly1097=) c.3285A>T (p.Gly1095=) | |
| 16 | g.23603498T>C | CA494173518 | PALB2 | c.3528A>G (p.Gly1176=) c.*1007A>G (n.*1007A>G) c.*157A>G (n.*157A>G) c.3366A>G (p.Gly1122=) c.2637A>G (p.Gly879=) n.4869A>G c.2475A>G (p.Gly825=) n.4042A>G n.2726A>G n.2217A>G c.*299A>G (n.*299A>G) c.1056A>G (p.Gly352=) c.3522A>G (p.Gly1174=) c.288A>G n.4230A>G c.3291A>G (p.Gly1097=) c.3285A>G (p.Gly1095=) | |
| 16 | g.23603498T>G | CA494173520 | PALB2 | c.3528A>C (p.Gly1176=) c.*1007A>C (n.*1007A>C) c.*157A>C (n.*157A>C) c.3366A>C (p.Gly1122=) c.2637A>C (p.Gly879=) n.4869A>C c.2475A>C (p.Gly825=) n.4042A>C n.2726A>C n.2217A>C c.*299A>C (n.*299A>C) c.1056A>C (p.Gly352=) c.3522A>C (p.Gly1174=) c.288A>C n.4230A>C c.3291A>C (p.Gly1097=) c.3285A>C (p.Gly1095=) | |
| 16 | g.23603499C>A | CA395137841 | PALB2 | c.3527G>T (p.Gly1176Val) c.*1006G>T (n.*1006G>T) c.*156G>T (n.*156G>T) c.3365G>T (p.Gly1122Val) c.2636G>T (p.Gly879Val) n.4868G>T c.2474G>T (p.Gly825Val) n.4041G>T n.2725G>T n.2216G>T c.*298G>T (n.*298G>T) c.1055G>T (p.Gly352Val) c.3521G>T (p.Gly1174Val) c.287G>T n.4229G>T c.3290G>T (p.Gly1097Val) c.3284G>T (p.Gly1095Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23603499C= | CA2213424304 | PALB2 | c.3527G= (p.Gly1176=) c.*1006G= (n.*1006G=) c.*156G= (n.*156G=) c.3365G= (p.Gly1122=) c.2636G= (p.Gly879=) n.4868G= c.2474G= (p.Gly825=) n.4041G= n.2725G= n.2216G= c.*298G= (n.*298G=) c.1055G= (p.Gly352=) c.3521G= (p.Gly1174=) c.287G= n.4229G= c.3290G= (p.Gly1097=) c.3284G= (p.Gly1095=) | |
| 16 | g.23603499C>G | CA395137843 | PALB2 | c.3527G>C (p.Gly1176Ala) c.*1006G>C (n.*1006G>C) c.*156G>C (n.*156G>C) c.3365G>C (p.Gly1122Ala) c.2636G>C (p.Gly879Ala) n.4868G>C c.2474G>C (p.Gly825Ala) n.4041G>C n.2725G>C n.2216G>C c.*298G>C (n.*298G>C) c.1055G>C (p.Gly352Ala) c.3521G>C (p.Gly1174Ala) c.287G>C n.4229G>C c.3290G>C (p.Gly1097Ala) c.3284G>C (p.Gly1095Ala) | |
| 16 | g.23603499C>T | CA395137839 | PALB2 | c.3527G>A (p.Gly1176Glu) c.*1006G>A (n.*1006G>A) c.*156G>A (n.*156G>A) c.3365G>A (p.Gly1122Glu) c.2636G>A (p.Gly879Glu) n.4868G>A c.2474G>A (p.Gly825Glu) n.4041G>A n.2725G>A n.2216G>A c.*298G>A (n.*298G>A) c.1055G>A (p.Gly352Glu) c.3521G>A (p.Gly1174Glu) c.287G>A n.4229G>A c.3290G>A (p.Gly1097Glu) c.3284G>A (p.Gly1095Glu) | |
| 16 | g.23603500C>A | CA395137844 | PALB2 | c.3526G>T (p.Gly1176Ter) c.*1005G>T (n.*1005G>T) c.*155G>T (n.*155G>T) c.3364G>T (p.Gly1122Ter) c.2635G>T (p.Gly879Ter) n.4867G>T c.2473G>T (p.Gly825Ter) n.4040G>T n.2724G>T n.2215G>T c.*297G>T (n.*297G>T) c.1054G>T (p.Gly352Ter) c.3520G>T (p.Gly1174Ter) c.286G>T n.4228G>T c.3289G>T (p.Gly1097Ter) c.3283G>T (p.Gly1095Ter) | |
| 16 | g.23603500C= | CA2213424306 | PALB2 | c.3526G= (p.Gly1176=) c.*1005G= (n.*1005G=) c.*155G= (n.*155G=) c.3364G= (p.Gly1122=) c.2635G= (p.Gly879=) n.4867G= c.2473G= (p.Gly825=) n.4040G= n.2724G= n.2215G= c.*297G= (n.*297G=) c.1054G= (p.Gly352=) c.3520G= (p.Gly1174=) c.286G= n.4228G= c.3289G= (p.Gly1097=) c.3283G= (p.Gly1095=) | |
| 16 | g.23603500C>G | CA395137846 | PALB2 | c.3526G>C (p.Gly1176Arg) c.*1005G>C (n.*1005G>C) c.*155G>C (n.*155G>C) c.3364G>C (p.Gly1122Arg) c.2635G>C (p.Gly879Arg) n.4867G>C c.2473G>C (p.Gly825Arg) n.4040G>C n.2724G>C n.2215G>C c.*297G>C (n.*297G>C) c.1054G>C (p.Gly352Arg) c.3520G>C (p.Gly1174Arg) c.286G>C n.4228G>C c.3289G>C (p.Gly1097Arg) c.3283G>C (p.Gly1095Arg) | dbSNP |
| 16 | g.23603500C>T | CA196291 | PALB2 | c.3526G>A (p.Gly1176Arg) c.*1005G>A (n.*1005G>A) c.*155G>A (n.*155G>A) c.3364G>A (p.Gly1122Arg) c.2635G>A (p.Gly879Arg) n.4867G>A c.2473G>A (p.Gly825Arg) n.4040G>A n.2724G>A n.2215G>A c.*297G>A (n.*297G>A) c.1054G>A (p.Gly352Arg) c.3520G>A (p.Gly1174Arg) c.286G>A n.4228G>A c.3289G>A (p.Gly1097Arg) c.3283G>A (p.Gly1095Arg) | ClinVar dbSNP gnomAD v2 |
| 16 | g.23603501A>C | CA494173524 | PALB2 | c.3525T>G (p.Ala1175=) c.*1004T>G (n.*1004T>G) c.*154T>G (n.*154T>G) c.3363T>G (p.Ala1121=) c.2634T>G (p.Ala878=) n.4866T>G c.2472T>G (p.Ala824=) n.4039T>G n.2723T>G n.2214T>G c.*296T>G (n.*296T>G) c.1053T>G (p.Ala351=) c.3519T>G (p.Ala1173=) c.285T>G n.4227T>G c.3288T>G (p.Ala1096=) c.3282T>G (p.Ala1094=) | |
| 16 | g.23603501A>G | CA494173526 | PALB2 | c.3525T>C (p.Ala1175=) c.*1004T>C (n.*1004T>C) c.*154T>C (n.*154T>C) c.3363T>C (p.Ala1121=) c.2634T>C (p.Ala878=) n.4866T>C c.2472T>C (p.Ala824=) n.4039T>C n.2723T>C n.2214T>C c.*296T>C (n.*296T>C) c.1053T>C (p.Ala351=) c.3519T>C (p.Ala1173=) c.285T>C n.4227T>C c.3288T>C (p.Ala1096=) c.3282T>C (p.Ala1094=) | dbSNP |
| 16 | g.23603501A>T | CA494173525 | PALB2 | c.3525T>A (p.Ala1175=) c.*1004T>A (n.*1004T>A) c.*154T>A (n.*154T>A) c.3363T>A (p.Ala1121=) c.2634T>A (p.Ala878=) n.4866T>A c.2472T>A (p.Ala824=) n.4039T>A n.2723T>A n.2214T>A c.*296T>A (n.*296T>A) c.1053T>A (p.Ala351=) c.3519T>A (p.Ala1173=) c.285T>A n.4227T>A c.3288T>A (p.Ala1096=) c.3282T>A (p.Ala1094=) | dbSNP |
| 16 | g.23603502G>A | CA279524893 | PALB2 | c.3524C>T (p.Ala1175Val) c.*1003C>T (n.*1003C>T) c.*153C>T (n.*153C>T) c.3362C>T (p.Ala1121Val) c.2633C>T (p.Ala878Val) n.4865C>T c.2471C>T (p.Ala824Val) n.4038C>T n.2722C>T n.2213C>T c.*295C>T (n.*295C>T) c.1052C>T (p.Ala351Val) c.3518C>T (p.Ala1173Val) c.284C>T n.4226C>T c.3287C>T (p.Ala1096Val) c.3281C>T (p.Ala1094Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.23603502G>C | CA395137849 | PALB2 | c.3524C>G (p.Ala1175Gly) c.*1003C>G (n.*1003C>G) c.*153C>G (n.*153C>G) c.3362C>G (p.Ala1121Gly) c.2633C>G (p.Ala878Gly) n.4865C>G c.2471C>G (p.Ala824Gly) n.4038C>G n.2722C>G n.2213C>G c.*295C>G (n.*295C>G) c.1052C>G (p.Ala351Gly) c.3518C>G (p.Ala1173Gly) c.284C>G n.4226C>G c.3287C>G (p.Ala1096Gly) c.3281C>G (p.Ala1094Gly) | ClinVar dbSNP |
| 16 | g.23603502G= | CA2213424309 | PALB2 | c.3524C= (p.Ala1175=) c.*1003C= (n.*1003C=) c.*153C= (n.*153C=) c.3362C= (p.Ala1121=) c.2633C= (p.Ala878=) n.4865C= c.2471C= (p.Ala824=) n.4038C= n.2722C= n.2213C= c.*295C= (n.*295C=) c.1052C= (p.Ala351=) c.3518C= (p.Ala1173=) c.284C= n.4226C= c.3287C= (p.Ala1096=) c.3281C= (p.Ala1094=) | |
| 16 | g.23603502G>T | CA395137850 | PALB2 | c.3524C>A (p.Ala1175Asp) c.*1003C>A (n.*1003C>A) c.*153C>A (n.*153C>A) c.3362C>A (p.Ala1121Asp) c.2633C>A (p.Ala878Asp) n.4865C>A c.2471C>A (p.Ala824Asp) n.4038C>A n.2722C>A n.2213C>A c.*295C>A (n.*295C>A) c.1052C>A (p.Ala351Asp) c.3518C>A (p.Ala1173Asp) c.284C>A n.4226C>A c.3287C>A (p.Ala1096Asp) c.3281C>A (p.Ala1094Asp) | ClinVar dbSNP |
| 16 | g.23603503C>A | CA395137851 | PALB2 | c.3523G>T (p.Ala1175Ser) c.*1002G>T (n.*1002G>T) c.*152G>T (n.*152G>T) c.3361G>T (p.Ala1121Ser) c.2632G>T (p.Ala878Ser) n.4864G>T c.2470G>T (p.Ala824Ser) n.4037G>T n.2721G>T n.2212G>T c.*294G>T (n.*294G>T) c.1051G>T (p.Ala351Ser) c.3517G>T (p.Ala1173Ser) c.283G>T n.4225G>T c.3286G>T (p.Ala1096Ser) c.3280G>T (p.Ala1094Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.23603503C= | CA2213424312 | PALB2 | c.3523G= (p.Ala1175=) c.*1002G= (n.*1002G=) c.*152G= (n.*152G=) c.3361G= (p.Ala1121=) c.2632G= (p.Ala878=) n.4864G= c.2470G= (p.Ala824=) n.4037G= n.2721G= n.2212G= c.*294G= (n.*294G=) c.1051G= (p.Ala351=) c.3517G= (p.Ala1173=) c.283G= n.4225G= c.3286G= (p.Ala1096=) c.3280G= (p.Ala1094=) | |
| 16 | g.23603503C>G | CA395137852 | PALB2 | c.3523G>C (p.Ala1175Pro) c.*1002G>C (n.*1002G>C) c.*152G>C (n.*152G>C) c.3361G>C (p.Ala1121Pro) c.2632G>C (p.Ala878Pro) n.4864G>C c.2470G>C (p.Ala824Pro) n.4037G>C n.2721G>C n.2212G>C c.*294G>C (n.*294G>C) c.1051G>C (p.Ala351Pro) c.3517G>C (p.Ala1173Pro) c.283G>C n.4225G>C c.3286G>C (p.Ala1096Pro) c.3280G>C (p.Ala1094Pro) | dbSNP |
| 16 | g.23603503C>T | CA395137853 | PALB2 | c.3523G>A (p.Ala1175Thr) c.*1002G>A (n.*1002G>A) c.*152G>A (n.*152G>A) c.3361G>A (p.Ala1121Thr) c.2632G>A (p.Ala878Thr) n.4864G>A c.2470G>A (p.Ala824Thr) n.4037G>A n.2721G>A n.2212G>A c.*294G>A (n.*294G>A) c.1051G>A (p.Ala351Thr) c.3517G>A (p.Ala1173Thr) c.283G>A n.4225G>A c.3286G>A (p.Ala1096Thr) c.3280G>A (p.Ala1094Thr) | ClinVar dbSNP |
| 16 | g.23603504C>A | CA494173528 | PALB2 | c.3522G>T (p.Leu1174=) c.*1001G>T (n.*1001G>T) c.*151G>T (n.*151G>T) c.3360G>T (p.Leu1120=) c.2631G>T (p.Leu877=) n.4863G>T c.2469G>T (p.Leu823=) n.4036G>T n.2720G>T n.2211G>T c.*293G>T (n.*293G>T) c.1050G>T (p.Leu350=) c.3516G>T (p.Leu1172=) c.282G>T n.4224G>T c.3285G>T (p.Leu1095=) c.3279G>T (p.Leu1093=) | dbSNP gnomAD v4 |
| 16 | g.23603504C>G | CA494173529 | PALB2 | c.3522G>C (p.Leu1174=) c.*1001G>C (n.*1001G>C) c.*151G>C (n.*151G>C) c.3360G>C (p.Leu1120=) c.2631G>C (p.Leu877=) n.4863G>C c.2469G>C (p.Leu823=) n.4036G>C n.2720G>C n.2211G>C c.*293G>C (n.*293G>C) c.1050G>C (p.Leu350=) c.3516G>C (p.Leu1172=) c.282G>C n.4224G>C c.3285G>C (p.Leu1095=) c.3279G>C (p.Leu1093=) | dbSNP |
| 16 | g.23603504C>T | CA494173530 | PALB2 | c.3522G>A (p.Leu1174=) c.*1001G>A (n.*1001G>A) c.*151G>A (n.*151G>A) c.3360G>A (p.Leu1120=) c.2631G>A (p.Leu877=) n.4863G>A c.2469G>A (p.Leu823=) n.4036G>A n.2720G>A n.2211G>A c.*293G>A (n.*293G>A) c.1050G>A (p.Leu350=) c.3516G>A (p.Leu1172=) c.282G>A n.4224G>A c.3285G>A (p.Leu1095=) c.3279G>A (p.Leu1093=) | dbSNP |
| 16 | g.23603505A= | CA2213424314 | PALB2 | c.3521T= (p.Leu1174=) c.*1000T= (n.*1000T=) c.*150T= (n.*150T=) c.3359T= (p.Leu1120=) c.2630T= (p.Leu877=) n.4862T= c.2468T= (p.Leu823=) n.4035T= n.2719T= n.2210T= c.*292T= (n.*292T=) c.1049T= (p.Leu350=) c.3515T= (p.Leu1172=) c.281T= n.4223T= c.3284T= (p.Leu1095=) c.3278T= (p.Leu1093=) | |
| 16 | g.23603505A>C | CA395137854 | PALB2 | c.3521T>G (p.Leu1174Arg) c.*1000T>G (n.*1000T>G) c.*150T>G (n.*150T>G) c.3359T>G (p.Leu1120Arg) c.2630T>G (p.Leu877Arg) n.4862T>G c.2468T>G (p.Leu823Arg) n.4035T>G n.2719T>G n.2210T>G c.*292T>G (n.*292T>G) c.1049T>G (p.Leu350Arg) c.3515T>G (p.Leu1172Arg) c.281T>G n.4223T>G c.3284T>G (p.Leu1095Arg) c.3278T>G (p.Leu1093Arg) | ClinVar dbSNP |
| 16 | g.23603505A>G | CA395137855 | PALB2 | c.3521T>C (p.Leu1174Pro) c.*1000T>C (n.*1000T>C) c.*150T>C (n.*150T>C) c.3359T>C (p.Leu1120Pro) c.2630T>C (p.Leu877Pro) n.4862T>C c.2468T>C (p.Leu823Pro) n.4035T>C n.2719T>C n.2210T>C c.*292T>C (n.*292T>C) c.1049T>C (p.Leu350Pro) c.3515T>C (p.Leu1172Pro) c.281T>C n.4223T>C c.3284T>C (p.Leu1095Pro) c.3278T>C (p.Leu1093Pro) | ClinVar dbSNP |
| 16 | g.23603505A>T | CA395137856 | PALB2 | c.3521T>A (p.Leu1174Gln) c.*1000T>A (n.*1000T>A) c.*150T>A (n.*150T>A) c.3359T>A (p.Leu1120Gln) c.2630T>A (p.Leu877Gln) n.4862T>A c.2468T>A (p.Leu823Gln) n.4035T>A n.2719T>A n.2210T>A c.*292T>A (n.*292T>A) c.1049T>A (p.Leu350Gln) c.3515T>A (p.Leu1172Gln) c.281T>A n.4223T>A c.3284T>A (p.Leu1095Gln) c.3278T>A (p.Leu1093Gln) | |
| 16 | g.23603506G>A | CA494173534 | PALB2 | c.3520C>T (p.Leu1174=) c.*999C>T (n.*999C>T) c.*149C>T (n.*149C>T) c.3358C>T (p.Leu1120=) c.2629C>T (p.Leu877=) n.4861C>T c.2467C>T (p.Leu823=) n.4034C>T n.2718C>T n.2209C>T c.*291C>T (n.*291C>T) c.1048C>T (p.Leu350=) c.3514C>T (p.Leu1172=) c.280C>T n.4222C>T c.3283C>T (p.Leu1095=) c.3277C>T (p.Leu1093=) | dbSNP |
| 16 | g.23603506G>C | CA395137857 | PALB2 | c.3520C>G (p.Leu1174Val) c.*999C>G (n.*999C>G) c.*149C>G (n.*149C>G) c.3358C>G (p.Leu1120Val) c.2629C>G (p.Leu877Val) n.4861C>G c.2467C>G (p.Leu823Val) n.4034C>G n.2718C>G n.2209C>G c.*291C>G (n.*291C>G) c.1048C>G (p.Leu350Val) c.3514C>G (p.Leu1172Val) c.280C>G n.4222C>G c.3283C>G (p.Leu1095Val) c.3277C>G (p.Leu1093Val) | ClinVar dbSNP |
| 16 | g.23603506G= | CA2213424316 | PALB2 | c.3520C= (p.Leu1174=) c.*999C= (n.*999C=) c.*149C= (n.*149C=) c.3358C= (p.Leu1120=) c.2629C= (p.Leu877=) n.4861C= c.2467C= (p.Leu823=) n.4034C= n.2718C= n.2209C= c.*291C= (n.*291C=) c.1048C= (p.Leu350=) c.3514C= (p.Leu1172=) c.280C= n.4222C= c.3283C= (p.Leu1095=) c.3277C= (p.Leu1093=) | |
| 16 | g.23603506G>T | CA395137858 | PALB2 | c.3520C>A (p.Leu1174Met) c.*999C>A (n.*999C>A) c.*149C>A (n.*149C>A) c.3358C>A (p.Leu1120Met) c.2629C>A (p.Leu877Met) n.4861C>A c.2467C>A (p.Leu823Met) n.4034C>A n.2718C>A n.2209C>A c.*291C>A (n.*291C>A) c.1048C>A (p.Leu350Met) c.3514C>A (p.Leu1172Met) c.280C>A n.4222C>A c.3283C>A (p.Leu1095Met) c.3277C>A (p.Leu1093Met) | dbSNP |
| 16 | g.23603507C>A | CA395137859 | PALB2 | c.3519G>T (p.Leu1173Phe) c.*998G>T (n.*998G>T) c.*148G>T (n.*148G>T) c.3357G>T (p.Leu1119Phe) c.2628G>T (p.Leu876Phe) n.4860G>T c.2466G>T (p.Leu822Phe) n.4033G>T n.2717G>T n.2208G>T c.*290G>T (n.*290G>T) c.1047G>T (p.Leu349Phe) c.3513G>T (p.Leu1171Phe) c.279G>T n.4221G>T c.3282G>T (p.Leu1094Phe) c.3276G>T (p.Leu1092Phe) | |
| 16 | g.23603507C= | CA2213424318 | PALB2 | c.3519G= (p.Leu1173=) c.*998G= (n.*998G=) c.*148G= (n.*148G=) c.3357G= (p.Leu1119=) c.2628G= (p.Leu876=) n.4860G= c.2466G= (p.Leu822=) n.4033G= n.2717G= n.2208G= c.*290G= (n.*290G=) c.1047G= (p.Leu349=) c.3513G= (p.Leu1171=) c.279G= n.4221G= c.3282G= (p.Leu1094=) c.3276G= (p.Leu1092=) | |
| 16 | g.23603507C>G | CA395137860 | PALB2 | c.3519G>C (p.Leu1173Phe) c.*998G>C (n.*998G>C) c.*148G>C (n.*148G>C) c.3357G>C (p.Leu1119Phe) c.2628G>C (p.Leu876Phe) n.4860G>C c.2466G>C (p.Leu822Phe) n.4033G>C n.2717G>C n.2208G>C c.*290G>C (n.*290G>C) c.1047G>C (p.Leu349Phe) c.3513G>C (p.Leu1171Phe) c.279G>C n.4221G>C c.3282G>C (p.Leu1094Phe) c.3276G>C (p.Leu1092Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23603507C>T | CA494173536 | PALB2 | c.3519G>A (p.Leu1173=) c.*998G>A (n.*998G>A) c.*148G>A (n.*148G>A) c.3357G>A (p.Leu1119=) c.2628G>A (p.Leu876=) n.4860G>A c.2466G>A (p.Leu822=) n.4033G>A n.2717G>A n.2208G>A c.*290G>A (n.*290G>A) c.1047G>A (p.Leu349=) c.3513G>A (p.Leu1171=) c.279G>A n.4221G>A c.3282G>A (p.Leu1094=) c.3276G>A (p.Leu1092=) | ClinVar dbSNP |