| 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.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=) | |
| 16 | g.23603658C>A | CA395138373 | PALB2 | c.3368G>T (p.Gly1123Val) c.*847G>T (n.*847G>T) c.3213G>T (p.Arg1071Ser) c.3206G>T (p.Gly1069Val) c.2477G>T (p.Gly826Val) n.4709G>T c.2328G>T (p.Arg776Ser) c.2315G>T (p.Gly772Val) n.3882G>T n.2566G>T n.2057G>T c.*139G>T (n.*139G>T) c.896G>T (p.Gly299Val) c.3362G>T (p.Gly1121Val) c.128G>T c.3219G>T (p.Arg1073Ser) n.4070G>T c.3131G>T (p.Gly1044Val) c.3125G>T (p.Gly1042Val) | dbSNP |
| 16 | g.23603658C= | CA2213424688 | PALB2 | c.3368G= (p.Gly1123=) c.*847G= (n.*847G=) c.3213G= (p.Arg1071=) c.3206G= (p.Gly1069=) c.2477G= (p.Gly826=) n.4709G= c.2328G= (p.Arg776=) c.2315G= (p.Gly772=) n.3882G= n.2566G= n.2057G= c.*139G= (n.*139G=) c.896G= (p.Gly299=) c.3362G= (p.Gly1121=) c.128G= c.3219G= (p.Arg1073=) n.4070G= c.3131G= (p.Gly1044=) c.3125G= (p.Gly1042=) | |
| 16 | g.23603658C>G | CA395138378 | PALB2 | c.3368G>C (p.Gly1123Ala) c.*847G>C (n.*847G>C) c.3213G>C (p.Arg1071Ser) c.3206G>C (p.Gly1069Ala) c.2477G>C (p.Gly826Ala) n.4709G>C c.2328G>C (p.Arg776Ser) c.2315G>C (p.Gly772Ala) n.3882G>C n.2566G>C n.2057G>C c.*139G>C (n.*139G>C) c.896G>C (p.Gly299Ala) c.3362G>C (p.Gly1121Ala) c.128G>C c.3219G>C (p.Arg1073Ser) n.4070G>C c.3131G>C (p.Gly1044Ala) c.3125G>C (p.Gly1042Ala) | dbSNP |
| 16 | g.23603658C>T | CA7963352 | PALB2 | c.3368G>A (p.Gly1123Asp) c.*847G>A (n.*847G>A) c.3213G>A (p.Arg1071=) c.3206G>A (p.Gly1069Asp) c.2477G>A (p.Gly826Asp) n.4709G>A c.2328G>A (p.Arg776=) c.2315G>A (p.Gly772Asp) n.3882G>A n.2566G>A n.2057G>A c.*139G>A (n.*139G>A) c.896G>A (p.Gly299Asp) c.3362G>A (p.Gly1121Asp) c.128G>A c.3219G>A (p.Arg1073=) n.4070G>A c.3131G>A (p.Gly1044Asp) c.3125G>A (p.Gly1042Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23603659del | CA167019 | PALB2 | c.3368del (p.Gly1123ValfsTer3) c.*847del (n.*847del) c.3213del (p.Arg1071SerfsTer?) c.3206del (p.Gly1069ValfsTer3) c.2477del (p.Gly826ValfsTer3) n.4709del c.2328del (p.Arg776SerfsTer?) c.2315del (p.Gly772ValfsTer3) n.3882del n.2566del n.2057del c.*139del (n.*139del) c.896del (p.Gly299ValfsTer3) c.3362del (p.Gly1121ValfsTer3) c.128del c.3219del (p.Arg1073SerfsTer?) n.4070del c.3131del (p.Gly1044ValfsTer3) c.3125del (p.Gly1042ValfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.23603659C>A | CA395138382 | PALB2 | c.3367G>T (p.Gly1123Cys) c.*846G>T (n.*846G>T) c.3212G>T (p.Arg1071Met) c.3205G>T (p.Gly1069Cys) c.2476G>T (p.Gly826Cys) n.4708G>T c.2327G>T (p.Arg776Met) c.2314G>T (p.Gly772Cys) n.3881G>T n.2565G>T n.2056G>T c.*138G>T (n.*138G>T) c.895G>T (p.Gly299Cys) c.3361G>T (p.Gly1121Cys) c.127G>T c.3218G>T (p.Arg1073Met) n.4069G>T c.3130G>T (p.Gly1044Cys) c.3124G>T (p.Gly1042Cys) | dbSNP |
| 16 | g.23603659C= | CA2213424699 | PALB2 | c.3367G= (p.Gly1123=) c.*846G= (n.*846G=) c.3212G= (p.Arg1071=) c.3205G= (p.Gly1069=) c.2476G= (p.Gly826=) n.4708G= c.2327G= (p.Arg776=) c.2314G= (p.Gly772=) n.3881G= n.2565G= n.2056G= c.*138G= (n.*138G=) c.895G= (p.Gly299=) c.3361G= (p.Gly1121=) c.127G= c.3218G= (p.Arg1073=) n.4069G= c.3130G= (p.Gly1044=) c.3124G= (p.Gly1042=) | |
| 16 | g.23603659C>G | CA395138383 | PALB2 | c.3367G>C (p.Gly1123Arg) c.*846G>C (n.*846G>C) c.3212G>C (p.Arg1071Thr) c.3205G>C (p.Gly1069Arg) c.2476G>C (p.Gly826Arg) n.4708G>C c.2327G>C (p.Arg776Thr) c.2314G>C (p.Gly772Arg) n.3881G>C n.2565G>C n.2056G>C c.*138G>C (n.*138G>C) c.895G>C (p.Gly299Arg) c.3361G>C (p.Gly1121Arg) c.127G>C c.3218G>C (p.Arg1073Thr) n.4069G>C c.3130G>C (p.Gly1044Arg) c.3124G>C (p.Gly1042Arg) | dbSNP |
| 16 | g.23603659C>T | CA395138385 | PALB2 | c.3367G>A (p.Gly1123Ser) c.*846G>A (n.*846G>A) c.3212G>A (p.Arg1071Lys) c.3205G>A (p.Gly1069Ser) c.2476G>A (p.Gly826Ser) n.4708G>A c.2327G>A (p.Arg776Lys) c.2314G>A (p.Gly772Ser) n.3881G>A n.2565G>A n.2056G>A c.*138G>A (n.*138G>A) c.895G>A (p.Gly299Ser) c.3361G>A (p.Gly1121Ser) c.127G>A c.3218G>A (p.Arg1073Lys) n.4069G>A c.3130G>A (p.Gly1044Ser) c.3124G>A (p.Gly1042Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603660T>A | CA395138387 | PALB2 | c.3366A>T (p.Glu1122Asp) c.*845A>T (n.*845A>T) c.3211A>T (p.Arg1071Trp) c.3204A>T (p.Glu1068Asp) c.2475A>T (p.Glu825Asp) n.4707A>T c.2326A>T (p.Arg776Trp) c.2313A>T (p.Glu771Asp) n.3880A>T n.2564A>T n.2055A>T c.*137A>T (n.*137A>T) c.894A>T (p.Glu298Asp) c.3360A>T (p.Glu1120Asp) c.126A>T c.3217A>T (p.Arg1073Trp) n.4068A>T c.3129A>T (p.Glu1043Asp) c.3123A>T (p.Glu1041Asp) | |
| 16 | g.23603660T>C | CA494173830 | PALB2 | c.3366A>G (p.Glu1122=) c.*845A>G (n.*845A>G) c.3211A>G (p.Arg1071Gly) c.3204A>G (p.Glu1068=) c.2475A>G (p.Glu825=) n.4707A>G c.2326A>G (p.Arg776Gly) c.2313A>G (p.Glu771=) n.3880A>G n.2564A>G n.2055A>G c.*137A>G (n.*137A>G) c.894A>G (p.Glu298=) c.3360A>G (p.Glu1120=) c.126A>G c.3217A>G (p.Arg1073Gly) n.4068A>G c.3129A>G (p.Glu1043=) c.3123A>G (p.Glu1041=) | |
| 16 | g.23603660T>G | CA395138389 | PALB2 | c.3366A>C (p.Glu1122Asp) c.*845A>C (n.*845A>C) c.3211A>C (p.Arg1071=) c.3204A>C (p.Glu1068Asp) c.2475A>C (p.Glu825Asp) n.4707A>C c.2326A>C (p.Arg776=) c.2313A>C (p.Glu771Asp) n.3880A>C n.2564A>C n.2055A>C c.*137A>C (n.*137A>C) c.894A>C (p.Glu298Asp) c.3360A>C (p.Glu1120Asp) c.126A>C c.3217A>C (p.Arg1073=) n.4068A>C c.3129A>C (p.Glu1043Asp) c.3123A>C (p.Glu1041Asp) | |
| 16 | g.23603661T>A | CA395138392 | PALB2 | c.3365A>T (p.Glu1122Val) c.*844A>T (n.*844A>T) c.3210A>T (p.Gly1070=) c.3203A>T (p.Glu1068Val) c.2474A>T (p.Glu825Val) n.4706A>T c.2325A>T (p.Gly775=) c.2312A>T (p.Glu771Val) n.3879A>T n.2563A>T n.2054A>T c.*136A>T (n.*136A>T) c.893A>T (p.Glu298Val) c.3359A>T (p.Glu1120Val) c.125A>T c.3216A>T (p.Gly1072=) n.4067A>T c.3128A>T (p.Glu1043Val) c.3122A>T (p.Glu1041Val) | |
| 16 | g.23603661T>C | CA395138393 | PALB2 | c.3365A>G (p.Glu1122Gly) c.*844A>G (n.*844A>G) c.3210A>G (p.Gly1070=) c.3203A>G (p.Glu1068Gly) c.2474A>G (p.Glu825Gly) n.4706A>G c.2325A>G (p.Gly775=) c.2312A>G (p.Glu771Gly) n.3879A>G n.2563A>G n.2054A>G c.*136A>G (n.*136A>G) c.893A>G (p.Glu298Gly) c.3359A>G (p.Glu1120Gly) c.125A>G c.3216A>G (p.Gly1072=) n.4067A>G c.3128A>G (p.Glu1043Gly) c.3122A>G (p.Glu1041Gly) | |
| 16 | g.23603661T>G | CA395138395 | PALB2 | c.3365A>C (p.Glu1122Ala) c.*844A>C (n.*844A>C) c.3210A>C (p.Gly1070=) c.3203A>C (p.Glu1068Ala) c.2474A>C (p.Glu825Ala) n.4706A>C c.2325A>C (p.Gly775=) c.2312A>C (p.Glu771Ala) n.3879A>C n.2563A>C n.2054A>C c.*136A>C (n.*136A>C) c.893A>C (p.Glu298Ala) c.3359A>C (p.Glu1120Ala) c.125A>C c.3216A>C (p.Gly1072=) n.4067A>C c.3128A>C (p.Glu1043Ala) c.3122A>C (p.Glu1041Ala) | |
| 16 | g.23603662C>A | CA10579919 | PALB2 | c.3364G>T (p.Glu1122Ter) c.*843G>T (n.*843G>T) c.3209G>T (p.Gly1070Val) c.3202G>T (p.Glu1068Ter) c.2473G>T (p.Glu825Ter) n.4705G>T c.2324G>T (p.Gly775Val) c.2311G>T (p.Glu771Ter) n.3878G>T n.2562G>T n.2053G>T c.*135G>T (n.*135G>T) c.892G>T (p.Glu298Ter) c.3358G>T (p.Glu1120Ter) c.124G>T c.3215G>T (p.Gly1072Val) n.4066G>T c.3127G>T (p.Glu1043Ter) c.3121G>T (p.Glu1041Ter) | ClinVar dbSNP |
| 16 | g.23603662C= | CA2213424707 | PALB2 | c.3364G= (p.Glu1122=) c.*843G= (n.*843G=) c.3209G= (p.Gly1070=) c.3202G= (p.Glu1068=) c.2473G= (p.Glu825=) n.4705G= c.2324G= (p.Gly775=) c.2311G= (p.Glu771=) n.3878G= n.2562G= n.2053G= c.*135G= (n.*135G=) c.892G= (p.Glu298=) c.3358G= (p.Glu1120=) c.124G= c.3215G= (p.Gly1072=) n.4066G= c.3127G= (p.Glu1043=) c.3121G= (p.Glu1041=) | |
| 16 | g.23603662C>G | CA395138398 | PALB2 | c.3364G>C (p.Glu1122Gln) c.*843G>C (n.*843G>C) c.3209G>C (p.Gly1070Ala) c.3202G>C (p.Glu1068Gln) c.2473G>C (p.Glu825Gln) n.4705G>C c.2324G>C (p.Gly775Ala) c.2311G>C (p.Glu771Gln) n.3878G>C n.2562G>C n.2053G>C c.*135G>C (n.*135G>C) c.892G>C (p.Glu298Gln) c.3358G>C (p.Glu1120Gln) c.124G>C c.3215G>C (p.Gly1072Ala) n.4066G>C c.3127G>C (p.Glu1043Gln) c.3121G>C (p.Glu1041Gln) | ClinVar dbSNP |
| 16 | g.23603662C>T | CA395138401 | PALB2 | c.3364G>A (p.Glu1122Lys) c.*843G>A (n.*843G>A) c.3209G>A (p.Gly1070Glu) c.3202G>A (p.Glu1068Lys) c.2473G>A (p.Glu825Lys) n.4705G>A c.2324G>A (p.Gly775Glu) c.2311G>A (p.Glu771Lys) n.3878G>A n.2562G>A n.2053G>A c.*135G>A (n.*135G>A) c.892G>A (p.Glu298Lys) c.3358G>A (p.Glu1120Lys) c.124G>A c.3215G>A (p.Gly1072Glu) n.4066G>A c.3127G>A (p.Glu1043Lys) c.3121G>A (p.Glu1041Lys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603663del | CA2732048999 | PALB2 | c.3364del (p.Glu1122LysfsTer4) c.*843del (n.*843del) c.3209del (p.Gly1070GlufsTer?) c.3202del (p.Glu1068LysfsTer4) c.2473del (p.Glu825LysfsTer4) n.4705del c.2324del (p.Gly775GlufsTer?) c.2311del (p.Glu771LysfsTer4) n.3878del n.2562del n.2053del c.*135del (n.*135del) c.892del (p.Glu298LysfsTer4) c.3358del (p.Glu1120LysfsTer4) c.124del c.3215del (p.Gly1072GlufsTer?) n.4066del c.3127del (p.Glu1043LysfsTer4) c.3121del (p.Glu1041LysfsTer4) | dbSNP |
| 16 | g.23603663C>A | CA494173832 | PALB2 | c.3363G>T (p.Leu1121=) c.*842G>T (n.*842G>T) c.3208G>T (p.Gly1070Ter) c.3201G>T (p.Leu1067=) c.2472G>T (p.Leu824=) n.4704G>T c.2323G>T (p.Gly775Ter) c.2310G>T (p.Leu770=) n.3877G>T n.2561G>T n.2052G>T c.*134G>T (n.*134G>T) c.891G>T (p.Leu297=) c.3357G>T (p.Leu1119=) c.123G>T c.3214G>T (p.Gly1072Ter) n.4065G>T c.3126G>T (p.Leu1042=) c.3120G>T (p.Leu1040=) | dbSNP |
| 16 | g.23603663C= | CA2213424716 | PALB2 | c.3363G= (p.Leu1121=) c.*842G= (n.*842G=) c.3208G= (p.Gly1070=) c.3201G= (p.Leu1067=) c.2472G= (p.Leu824=) n.4704G= c.2323G= (p.Gly775=) c.2310G= (p.Leu770=) n.3877G= n.2561G= n.2052G= c.*134G= (n.*134G=) c.891G= (p.Leu297=) c.3357G= (p.Leu1119=) c.123G= c.3214G= (p.Gly1072=) n.4065G= c.3126G= (p.Leu1042=) c.3120G= (p.Leu1040=) | |
| 16 | g.23603663C>G | CA494173833 | PALB2 | c.3363G>C (p.Leu1121=) c.*842G>C (n.*842G>C) c.3208G>C (p.Gly1070Arg) c.3201G>C (p.Leu1067=) c.2472G>C (p.Leu824=) n.4704G>C c.2323G>C (p.Gly775Arg) c.2310G>C (p.Leu770=) n.3877G>C n.2561G>C n.2052G>C c.*134G>C (n.*134G>C) c.891G>C (p.Leu297=) c.3357G>C (p.Leu1119=) c.123G>C c.3214G>C (p.Gly1072Arg) n.4065G>C c.3126G>C (p.Leu1042=) c.3120G>C (p.Leu1040=) | dbSNP |
| 16 | g.23603663C>T | CA494173834 | PALB2 | c.3363G>A (p.Leu1121=) c.*842G>A (n.*842G>A) c.3208G>A (p.Gly1070Arg) c.3201G>A (p.Leu1067=) c.2472G>A (p.Leu824=) n.4704G>A c.2323G>A (p.Gly775Arg) c.2310G>A (p.Leu770=) n.3877G>A n.2561G>A n.2052G>A c.*134G>A (n.*134G>A) c.891G>A (p.Leu297=) c.3357G>A (p.Leu1119=) c.123G>A c.3214G>A (p.Gly1072Arg) n.4065G>A c.3126G>A (p.Leu1042=) c.3120G>A (p.Leu1040=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.23603664A= | CA2213424721 | PALB2 | c.3362T= (p.Leu1121=) c.*841T= (n.*841T=) c.3207T= (p.Pro1069=) c.3200T= (p.Leu1067=) c.2471T= (p.Leu824=) n.4703T= c.2322T= (p.Pro774=) c.2309T= (p.Leu770=) n.3876T= n.2560T= n.2051T= c.*133T= (n.*133T=) c.890T= (p.Leu297=) c.3356T= (p.Leu1119=) c.122T= c.3213T= (p.Pro1071=) n.4064T= c.3125T= (p.Leu1042=) c.3119T= (p.Leu1040=) | |
| 16 | g.23603664A>C | CA395138405 | PALB2 | c.3362T>G (p.Leu1121Arg) c.*841T>G (n.*841T>G) c.3207T>G (p.Pro1069=) c.3200T>G (p.Leu1067Arg) c.2471T>G (p.Leu824Arg) n.4703T>G c.2322T>G (p.Pro774=) c.2309T>G (p.Leu770Arg) n.3876T>G n.2560T>G n.2051T>G c.*133T>G (n.*133T>G) c.890T>G (p.Leu297Arg) c.3356T>G (p.Leu1119Arg) c.122T>G c.3213T>G (p.Pro1071=) n.4064T>G c.3125T>G (p.Leu1042Arg) c.3119T>G (p.Leu1040Arg) | |
| 16 | g.23603664A>G | CA331796 | PALB2 | c.3362T>C (p.Leu1121Pro) c.*841T>C (n.*841T>C) c.3207T>C (p.Pro1069=) c.3200T>C (p.Leu1067Pro) c.2471T>C (p.Leu824Pro) n.4703T>C c.2322T>C (p.Pro774=) c.2309T>C (p.Leu770Pro) n.3876T>C n.2560T>C n.2051T>C c.*133T>C (n.*133T>C) c.890T>C (p.Leu297Pro) c.3356T>C (p.Leu1119Pro) c.122T>C c.3213T>C (p.Pro1071=) n.4064T>C c.3125T>C (p.Leu1042Pro) c.3119T>C (p.Leu1040Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.23603664A>T | CA395138403 | PALB2 | c.3362T>A (p.Leu1121Gln) c.*841T>A (n.*841T>A) c.3207T>A (p.Pro1069=) c.3200T>A (p.Leu1067Gln) c.2471T>A (p.Leu824Gln) n.4703T>A c.2322T>A (p.Pro774=) c.2309T>A (p.Leu770Gln) n.3876T>A n.2560T>A n.2051T>A c.*133T>A (n.*133T>A) c.890T>A (p.Leu297Gln) c.3356T>A (p.Leu1119Gln) c.122T>A c.3213T>A (p.Pro1071=) n.4064T>A c.3125T>A (p.Leu1042Gln) c.3119T>A (p.Leu1040Gln) | |
| 16 | g.23603665G>A | CA7963353 | PALB2 | c.3361C>T (p.Leu1121=) c.*840C>T (n.*840C>T) c.3206C>T (p.Pro1069Leu) c.3199C>T (p.Leu1067=) c.2470C>T (p.Leu824=) n.4702C>T c.2321C>T (p.Pro774Leu) c.2308C>T (p.Leu770=) n.3875C>T n.2559C>T n.2050C>T c.*132C>T (n.*132C>T) c.889C>T (p.Leu297=) c.3355C>T (p.Leu1119=) c.121C>T c.3212C>T (p.Pro1071Leu) n.4063C>T c.3124C>T (p.Leu1042=) c.3118C>T (p.Leu1040=) | ClinVar dbSNP ExAC |
| 16 | g.23603665G>C | CA395138407 | PALB2 | c.3361C>G (p.Leu1121Val) c.*840C>G (n.*840C>G) c.3206C>G (p.Pro1069Arg) c.3199C>G (p.Leu1067Val) c.2470C>G (p.Leu824Val) n.4702C>G c.2321C>G (p.Pro774Arg) c.2308C>G (p.Leu770Val) n.3875C>G n.2559C>G n.2050C>G c.*132C>G (n.*132C>G) c.889C>G (p.Leu297Val) c.3355C>G (p.Leu1119Val) c.121C>G c.3212C>G (p.Pro1071Arg) n.4063C>G c.3124C>G (p.Leu1042Val) c.3118C>G (p.Leu1040Val) | |
| 16 | g.23603665G= | CA2213424731 | PALB2 | c.3361C= (p.Leu1121=) c.*840C= (n.*840C=) c.3206C= (p.Pro1069=) c.3199C= (p.Leu1067=) c.2470C= (p.Leu824=) n.4702C= c.2321C= (p.Pro774=) c.2308C= (p.Leu770=) n.3875C= n.2559C= n.2050C= c.*132C= (n.*132C=) c.889C= (p.Leu297=) c.3355C= (p.Leu1119=) c.121C= c.3212C= (p.Pro1071=) n.4063C= c.3124C= (p.Leu1042=) c.3118C= (p.Leu1040=) | |
| 16 | g.23603665G>T | CA395138409 | PALB2 | c.3361C>A (p.Leu1121Met) c.*840C>A (n.*840C>A) c.3206C>A (p.Pro1069His) c.3199C>A (p.Leu1067Met) c.2470C>A (p.Leu824Met) n.4702C>A c.2321C>A (p.Pro774His) c.2308C>A (p.Leu770Met) n.3875C>A n.2559C>A n.2050C>A c.*132C>A (n.*132C>A) c.889C>A (p.Leu297Met) c.3355C>A (p.Leu1119Met) c.121C>A c.3212C>A (p.Pro1071His) n.4063C>A c.3124C>A (p.Leu1042Met) c.3118C>A (p.Leu1040Met) | |
| 16 | g.23603666G>A | CA494173838 | PALB2 | c.3360C>T (p.Phe1120=) c.*839C>T (n.*839C>T) c.3205C>T (p.Pro1069Ser) c.3198C>T (p.Phe1066=) c.2469C>T (p.Phe823=) n.4701C>T c.2320C>T (p.Pro774Ser) c.2307C>T (p.Phe769=) n.3874C>T n.2558C>T n.2049C>T c.*131C>T (n.*131C>T) c.888C>T (p.Phe296=) c.3354C>T (p.Phe1118=) c.120C>T c.3211C>T (p.Pro1071Ser) n.4062C>T c.3123C>T (p.Phe1041=) c.3117C>T (p.Phe1039=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.23603666G>C | CA395138412 | PALB2 | c.3360C>G (p.Phe1120Leu) c.*839C>G (n.*839C>G) c.3205C>G (p.Pro1069Ala) c.3198C>G (p.Phe1066Leu) c.2469C>G (p.Phe823Leu) n.4701C>G c.2320C>G (p.Pro774Ala) c.2307C>G (p.Phe769Leu) n.3874C>G n.2558C>G n.2049C>G c.*131C>G (n.*131C>G) c.888C>G (p.Phe296Leu) c.3354C>G (p.Phe1118Leu) c.120C>G c.3211C>G (p.Pro1071Ala) n.4062C>G c.3123C>G (p.Phe1041Leu) c.3117C>G (p.Phe1039Leu) | dbSNP |
| 16 | g.23603666G>T | CA395138413 | PALB2 | c.3360C>A (p.Phe1120Leu) c.*839C>A (n.*839C>A) c.3205C>A (p.Pro1069Thr) c.3198C>A (p.Phe1066Leu) c.2469C>A (p.Phe823Leu) n.4701C>A c.2320C>A (p.Pro774Thr) c.2307C>A (p.Phe769Leu) n.3874C>A n.2558C>A n.2049C>A c.*131C>A (n.*131C>A) c.888C>A (p.Phe296Leu) c.3354C>A (p.Phe1118Leu) c.120C>A c.3211C>A (p.Pro1071Thr) n.4062C>A c.3123C>A (p.Phe1041Leu) c.3117C>A (p.Phe1039Leu) | |
| 16 | g.23603667A= | CA2213424747 | PALB2 | c.3359T= (p.Phe1120=) c.*838T= (n.*838T=) c.3204T= (p.Val1068=) c.3197T= (p.Phe1066=) c.2468T= (p.Phe823=) n.4700T= c.2319T= (p.Val773=) c.2306T= (p.Phe769=) n.3873T= n.2557T= n.2048T= c.*130T= (n.*130T=) c.887T= (p.Phe296=) c.3353T= (p.Phe1118=) c.119T= c.3210T= (p.Val1070=) n.4061T= c.3122T= (p.Phe1041=) c.3116T= (p.Phe1039=) | |
| 16 | g.23603667A>C | CA395138415 | PALB2 | c.3359T>G (p.Phe1120Cys) c.*838T>G (n.*838T>G) c.3204T>G (p.Val1068=) c.3197T>G (p.Phe1066Cys) c.2468T>G (p.Phe823Cys) n.4700T>G c.2319T>G (p.Val773=) c.2306T>G (p.Phe769Cys) n.3873T>G n.2557T>G n.2048T>G c.*130T>G (n.*130T>G) c.887T>G (p.Phe296Cys) c.3353T>G (p.Phe1118Cys) c.119T>G c.3210T>G (p.Val1070=) n.4061T>G c.3122T>G (p.Phe1041Cys) c.3116T>G (p.Phe1039Cys) | |
| 16 | g.23603667A>G | CA395138416 | PALB2 | c.3359T>C (p.Phe1120Ser) c.*838T>C (n.*838T>C) c.3204T>C (p.Val1068=) c.3197T>C (p.Phe1066Ser) c.2468T>C (p.Phe823Ser) n.4700T>C c.2319T>C (p.Val773=) c.2306T>C (p.Phe769Ser) n.3873T>C n.2557T>C n.2048T>C c.*130T>C (n.*130T>C) c.887T>C (p.Phe296Ser) c.3353T>C (p.Phe1118Ser) c.119T>C c.3210T>C (p.Val1070=) n.4061T>C c.3122T>C (p.Phe1041Ser) c.3116T>C (p.Phe1039Ser) | |
| 16 | g.23603667A>T | CA395138417 | PALB2 | c.3359T>A (p.Phe1120Tyr) c.*838T>A (n.*838T>A) c.3204T>A (p.Val1068=) c.3197T>A (p.Phe1066Tyr) c.2468T>A (p.Phe823Tyr) n.4700T>A c.2319T>A (p.Val773=) c.2306T>A (p.Phe769Tyr) n.3873T>A n.2557T>A n.2048T>A c.*130T>A (n.*130T>A) c.887T>A (p.Phe296Tyr) c.3353T>A (p.Phe1118Tyr) c.119T>A c.3210T>A (p.Val1070=) n.4061T>A c.3122T>A (p.Phe1041Tyr) c.3116T>A (p.Phe1039Tyr) | ClinVar dbSNP |
| 16 | g.23603668A>C | CA395138420 | PALB2 | c.3358T>G (p.Phe1120Val) c.*837T>G (n.*837T>G) c.3203T>G (p.Val1068Gly) c.3196T>G (p.Phe1066Val) c.2467T>G (p.Phe823Val) n.4699T>G c.2318T>G (p.Val773Gly) c.2305T>G (p.Phe769Val) n.3872T>G n.2556T>G n.2047T>G c.*129T>G (n.*129T>G) c.886T>G (p.Phe296Val) c.3352T>G (p.Phe1118Val) c.118T>G c.3209T>G (p.Val1070Gly) n.4060T>G c.3121T>G (p.Phe1041Val) c.3115T>G (p.Phe1039Val) | dbSNP |
| 16 | g.23603668A>G | CA395138421 | PALB2 | c.3358T>C (p.Phe1120Leu) c.*837T>C (n.*837T>C) c.3203T>C (p.Val1068Ala) c.3196T>C (p.Phe1066Leu) c.2467T>C (p.Phe823Leu) n.4699T>C c.2318T>C (p.Val773Ala) c.2305T>C (p.Phe769Leu) n.3872T>C n.2556T>C n.2047T>C c.*129T>C (n.*129T>C) c.886T>C (p.Phe296Leu) c.3352T>C (p.Phe1118Leu) c.118T>C c.3209T>C (p.Val1070Ala) n.4060T>C c.3121T>C (p.Phe1041Leu) c.3115T>C (p.Phe1039Leu) | |
| 16 | g.23603668A>T | CA395138423 | PALB2 | c.3358T>A (p.Phe1120Ile) c.*837T>A (n.*837T>A) c.3203T>A (p.Val1068Asp) c.3196T>A (p.Phe1066Ile) c.2467T>A (p.Phe823Ile) n.4699T>A c.2318T>A (p.Val773Asp) c.2305T>A (p.Phe769Ile) n.3872T>A n.2556T>A n.2047T>A c.*129T>A (n.*129T>A) c.886T>A (p.Phe296Ile) c.3352T>A (p.Phe1118Ile) c.118T>A c.3209T>A (p.Val1070Asp) n.4060T>A c.3121T>A (p.Phe1041Ile) c.3115T>A (p.Phe1039Ile) | dbSNP gnomAD v4 |
| 16 | g.23603669C>A | CA395138427 | PALB2 | c.3357G>T (p.Arg1119Ser) c.*836G>T (n.*836G>T) c.3202G>T (p.Val1068Phe) c.3195G>T (p.Arg1065Ser) c.2466G>T (p.Arg822Ser) n.4698G>T c.2317G>T (p.Val773Phe) c.2304G>T (p.Arg768Ser) n.3871G>T n.2555G>T n.2046G>T c.*128G>T (n.*128G>T) c.885G>T (p.Arg295Ser) c.3351G>T (p.Arg1117Ser) c.117G>T c.3208G>T (p.Val1070Phe) n.4059G>T c.3120G>T (p.Trp1040Cys) c.3114G>T (p.Trp1038Cys) | dbSNP |
| 16 | g.23603669C= | CA2213424749 | PALB2 | c.3357G= (p.Arg1119=) c.*836G= (n.*836G=) c.3202G= (p.Val1068=) c.3195G= (p.Arg1065=) c.2466G= (p.Arg822=) n.4698G= c.2317G= (p.Val773=) c.2304G= (p.Arg768=) n.3871G= n.2555G= n.2046G= c.*128G= (n.*128G=) c.885G= (p.Arg295=) c.3351G= (p.Arg1117=) c.117G= c.3208G= (p.Val1070=) n.4059G= c.3120G= (p.Trp1040=) c.3114G= (p.Trp1038=) | |
| 16 | g.23603669C>G | CA395138426 | PALB2 | c.3357G>C (p.Arg1119Ser) c.*836G>C (n.*836G>C) c.3202G>C (p.Val1068Leu) c.3195G>C (p.Arg1065Ser) c.2466G>C (p.Arg822Ser) n.4698G>C c.2317G>C (p.Val773Leu) c.2304G>C (p.Arg768Ser) n.3871G>C n.2555G>C n.2046G>C c.*128G>C (n.*128G>C) c.885G>C (p.Arg295Ser) c.3351G>C (p.Arg1117Ser) c.117G>C c.3208G>C (p.Val1070Leu) n.4059G>C c.3120G>C (p.Trp1040Cys) c.3114G>C (p.Trp1038Cys) | ClinVar dbSNP |