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.23603456A>G | CA2632324006 | PALB2 | c.*3T>C (n.*3T>C) c.*1049T>C (n.*1049T>C) c.*199T>C (n.*199T>C) n.4911T>C n.4084T>C n.2768T>C n.2259T>C c.*341T>C (n.*341T>C) c.330T>C n.4272T>C | dbSNP gnomAD v4 |
16 | g.23603457del | CA2575946212 | PALB2 | c.*3del (n.*3del) c.*1049del (n.*1049del) c.*199del (n.*199del) n.4911del n.4084del n.2768del n.2259del c.*341del (n.*341del) c.330del n.4272del | |
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.23603457A= | CA2213424242 | PALB2 | c.*2T= (n.*2T=) c.*1048T= (n.*1048T=) c.*198T= (n.*198T=) n.4910T= n.4083T= n.2767T= n.2258T= c.*340T= (n.*340T=) c.329T= n.4271T= | |
16 | g.23603457A>C | CA913188697 | PALB2 | c.*2T>G (n.*2T>G) c.*1048T>G (n.*1048T>G) c.*198T>G (n.*198T>G) n.4910T>G n.4083T>G n.2767T>G n.2258T>G c.*340T>G (n.*340T>G) c.329T>G n.4271T>G | ClinVar dbSNP |
16 | g.23603457A>T | CA2731917941 | PALB2 | c.*2T>A (n.*2T>A) c.*1048T>A (n.*1048T>A) c.*198T>A (n.*198T>A) n.4910T>A n.4083T>A n.2767T>A n.2258T>A c.*340T>A (n.*340T>A) c.329T>A n.4271T>A | dbSNP |
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.23603458C>G | CA2732053484 | PALB2 | c.*1G>C (n.*1G>C) c.*1047G>C (n.*1047G>C) c.*197G>C (n.*197G>C) n.4909G>C n.4082G>C n.2766G>C n.2257G>C c.*339G>C (n.*339G>C) c.328G>C n.4270G>C | 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.23603459T>A | CA395137565 | PALB2 | c.3567A>T (p.Ter1189Tyr) c.*1046A>T (n.*1046A>T) c.*196A>T (n.*196A>T) c.3405A>T (p.Ter1135Tyr) c.2676A>T (p.Ter892Tyr) n.4908A>T c.2514A>T (p.Ter838Tyr) n.4081A>T n.2765A>T n.2256A>T c.*338A>T (n.*338A>T) c.1095A>T (p.Ter365Tyr) c.3561A>T (p.Ter1187Tyr) c.327A>T n.4269A>T c.3330A>T (p.Ter1110Tyr) c.3324A>T (p.Ter1108Tyr) | |
16 | g.23603459T>C | CA494173473 | PALB2 | c.3567A>G (p.Ter1189=) c.*1046A>G (n.*1046A>G) c.*196A>G (n.*196A>G) c.3405A>G (p.Ter1135=) c.2676A>G (p.Ter892=) n.4908A>G c.2514A>G (p.Ter838=) n.4081A>G n.2765A>G n.2256A>G c.*338A>G (n.*338A>G) c.1095A>G (p.Ter365=) c.3561A>G (p.Ter1187=) c.327A>G n.4269A>G c.3330A>G (p.Ter1110=) c.3324A>G (p.Ter1108=) | |
16 | g.23603459T>G | CA395137567 | PALB2 | c.3567A>C (p.Ter1189Tyr) c.*1046A>C (n.*1046A>C) c.*196A>C (n.*196A>C) c.3405A>C (p.Ter1135Tyr) c.2676A>C (p.Ter892Tyr) n.4908A>C c.2514A>C (p.Ter838Tyr) n.4081A>C n.2765A>C n.2256A>C c.*338A>C (n.*338A>C) c.1095A>C (p.Ter365Tyr) c.3561A>C (p.Ter1187Tyr) c.327A>C n.4269A>C c.3330A>C (p.Ter1110Tyr) c.3324A>C (p.Ter1108Tyr) | |
16 | g.23603460T>A | CA395137571 | PALB2 | c.3566A>T (p.Ter1189Leu) c.*1045A>T (n.*1045A>T) c.*195A>T (n.*195A>T) c.3404A>T (p.Ter1135Leu) c.2675A>T (p.Ter892Leu) n.4907A>T c.2513A>T (p.Ter838Leu) n.4080A>T n.2764A>T n.2255A>T c.*337A>T (n.*337A>T) c.1094A>T (p.Ter365Leu) c.3560A>T (p.Ter1187Leu) c.326A>T n.4268A>T c.3329A>T (p.Ter1110Leu) c.3323A>T (p.Ter1108Leu) | |
16 | g.23603460T>C | CA494173475 | PALB2 | c.3566A>G (p.Ter1189=) c.*1045A>G (n.*1045A>G) c.*195A>G (n.*195A>G) c.3404A>G (p.Ter1135=) c.2675A>G (p.Ter892=) n.4907A>G c.2513A>G (p.Ter838=) n.4080A>G n.2764A>G n.2255A>G c.*337A>G (n.*337A>G) c.1094A>G (p.Ter365=) c.3560A>G (p.Ter1187=) c.326A>G n.4268A>G c.3329A>G (p.Ter1110=) c.3323A>G (p.Ter1108=) | |
16 | g.23603460T>G | CA395137575 | PALB2 | c.3566A>C (p.Ter1189Ser) c.*1045A>C (n.*1045A>C) c.*195A>C (n.*195A>C) c.3404A>C (p.Ter1135Ser) c.2675A>C (p.Ter892Ser) n.4907A>C c.2513A>C (p.Ter838Ser) n.4080A>C n.2764A>C n.2255A>C c.*337A>C (n.*337A>C) c.1094A>C (p.Ter365Ser) c.3560A>C (p.Ter1187Ser) c.326A>C n.4268A>C c.3329A>C (p.Ter1110Ser) c.3323A>C (p.Ter1108Ser) | |
16 | g.23603461A= | CA2213424245 | PALB2 | c.3565T= (p.Ter1189=) c.*1044T= (n.*1044T=) c.*194T= (n.*194T=) c.3403T= (p.Ter1135=) c.2674T= (p.Ter892=) n.4906T= c.2512T= (p.Ter838=) n.4079T= n.2763T= n.2254T= c.*336T= (n.*336T=) c.1093T= (p.Ter365=) c.3559T= (p.Ter1187=) c.325T= n.4267T= c.3328T= (p.Ter1110=) c.3322T= (p.Ter1108=) | |
16 | g.23603461A>C | CA395137579 | PALB2 | c.3565T>G (p.Ter1189Glu) c.*1044T>G (n.*1044T>G) c.*194T>G (n.*194T>G) c.3403T>G (p.Ter1135Glu) c.2674T>G (p.Ter892Glu) n.4906T>G c.2512T>G (p.Ter838Glu) n.4079T>G n.2763T>G n.2254T>G c.*336T>G (n.*336T>G) c.1093T>G (p.Ter365Glu) c.3559T>G (p.Ter1187Glu) c.325T>G n.4267T>G c.3328T>G (p.Ter1110Glu) c.3322T>G (p.Ter1108Glu) | |
16 | g.23603461A>G | CA395137583 | PALB2 | c.3565T>C (p.Ter1189Gln) c.*1044T>C (n.*1044T>C) c.*194T>C (n.*194T>C) c.3403T>C (p.Ter1135Gln) c.2674T>C (p.Ter892Gln) n.4906T>C c.2512T>C (p.Ter838Gln) n.4079T>C n.2763T>C n.2254T>C c.*336T>C (n.*336T>C) c.1093T>C (p.Ter365Gln) c.3559T>C (p.Ter1187Gln) c.325T>C n.4267T>C c.3328T>C (p.Ter1110Gln) c.3322T>C (p.Ter1108Gln) | ClinVar dbSNP |
16 | g.23603461A>T | CA395137581 | PALB2 | c.3565T>A (p.Ter1189Lys) c.*1044T>A (n.*1044T>A) c.*194T>A (n.*194T>A) c.3403T>A (p.Ter1135Lys) c.2674T>A (p.Ter892Lys) n.4906T>A c.2512T>A (p.Ter838Lys) n.4079T>A n.2763T>A n.2254T>A c.*336T>A (n.*336T>A) c.1093T>A (p.Ter365Lys) c.3559T>A (p.Ter1187Lys) c.325T>A n.4267T>A c.3328T>A (p.Ter1110Lys) c.3322T>A (p.Ter1108Lys) | |
16 | g.23603461dup | CA2632324008 | PALB2 | c.3565dup (p.Ter1189LeuextTer3) c.*1044dup (n.*1044dup) c.*194dup (n.*194dup) c.3403dup (p.Ter1135LeuextTer3) c.2674dup (p.Ter892LeuextTer3) n.4906dup c.2512dup (p.Ter838LeuextTer3) n.4079dup n.2763dup n.2254dup c.*336dup (n.*336dup) c.1093dup (p.Ter365LeuextTer3) c.3559dup (p.Ter1187LeuextTer3) c.325dup n.4267dup c.3328dup (p.Ter1110LeuextTer3) c.3322dup (p.Ter1108LeuextTer3) | gnomAD v4 |
16 | g.23603462T>A | CA494173481 | PALB2 | c.3564A>T (p.Ser1188=) c.*1043A>T (n.*1043A>T) c.*193A>T (n.*193A>T) c.3402A>T (p.Ser1134=) c.2673A>T (p.Ser891=) n.4905A>T c.2511A>T (p.Ser837=) n.4078A>T n.2762A>T n.2253A>T c.*335A>T (n.*335A>T) c.1092A>T (p.Ser364=) c.3558A>T (p.Ser1186=) c.324A>T n.4266A>T c.3327A>T (p.Ser1109=) c.3321A>T (p.Ser1107=) | |
16 | g.23603462T>C | CA494173482 | PALB2 | c.3564A>G (p.Ser1188=) c.*1043A>G (n.*1043A>G) c.*193A>G (n.*193A>G) c.3402A>G (p.Ser1134=) c.2673A>G (p.Ser891=) n.4905A>G c.2511A>G (p.Ser837=) n.4078A>G n.2762A>G n.2253A>G c.*335A>G (n.*335A>G) c.1092A>G (p.Ser364=) c.3558A>G (p.Ser1186=) c.324A>G n.4266A>G c.3327A>G (p.Ser1109=) c.3321A>G (p.Ser1107=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603462T>G | CA494173483 | PALB2 | c.3564A>C (p.Ser1188=) c.*1043A>C (n.*1043A>C) c.*193A>C (n.*193A>C) c.3402A>C (p.Ser1134=) c.2673A>C (p.Ser891=) n.4905A>C c.2511A>C (p.Ser837=) n.4078A>C n.2762A>C n.2253A>C c.*335A>C (n.*335A>C) c.1092A>C (p.Ser364=) c.3558A>C (p.Ser1186=) c.324A>C n.4266A>C c.3327A>C (p.Ser1109=) c.3321A>C (p.Ser1107=) | |
16 | g.23603462T= | CA2213424247 | PALB2 | c.3564A= (p.Ser1188=) c.*1043A= (n.*1043A=) c.*193A= (n.*193A=) c.3402A= (p.Ser1134=) c.2673A= (p.Ser891=) n.4905A= c.2511A= (p.Ser837=) n.4078A= n.2762A= n.2253A= c.*335A= (n.*335A=) c.1092A= (p.Ser364=) c.3558A= (p.Ser1186=) c.324A= n.4266A= c.3327A= (p.Ser1109=) c.3321A= (p.Ser1107=) | |
16 | g.23603463G>A | CA395137585 | PALB2 | c.3563C>T (p.Ser1188Leu) c.*1042C>T (n.*1042C>T) c.*192C>T (n.*192C>T) c.3401C>T (p.Ser1134Leu) c.2672C>T (p.Ser891Leu) n.4904C>T c.2510C>T (p.Ser837Leu) n.4077C>T n.2761C>T n.2252C>T c.*334C>T (n.*334C>T) c.1091C>T (p.Ser364Leu) c.3557C>T (p.Ser1186Leu) c.323C>T n.4265C>T c.3326C>T (p.Ser1109Leu) c.3320C>T (p.Ser1107Leu) | dbSNP |
16 | g.23603463G>C | CA395137593 | PALB2 | c.3563C>G (p.Ser1188Ter) c.*1042C>G (n.*1042C>G) c.*192C>G (n.*192C>G) c.3401C>G (p.Ser1134Ter) c.2672C>G (p.Ser891Ter) n.4904C>G c.2510C>G (p.Ser837Ter) n.4077C>G n.2761C>G n.2252C>G c.*334C>G (n.*334C>G) c.1091C>G (p.Ser364Ter) c.3557C>G (p.Ser1186Ter) c.323C>G n.4265C>G c.3326C>G (p.Ser1109Ter) c.3320C>G (p.Ser1107Ter) | ClinVar dbSNP |
16 | g.23603463G>T | CA395137591 | PALB2 | c.3563C>A (p.Ser1188Ter) c.*1042C>A (n.*1042C>A) c.*192C>A (n.*192C>A) c.3401C>A (p.Ser1134Ter) c.2672C>A (p.Ser891Ter) n.4904C>A c.2510C>A (p.Ser837Ter) n.4077C>A n.2761C>A n.2252C>A c.*334C>A (n.*334C>A) c.1091C>A (p.Ser364Ter) c.3557C>A (p.Ser1186Ter) c.323C>A n.4265C>A c.3326C>A (p.Ser1109Ter) c.3320C>A (p.Ser1107Ter) | |
16 | g.23603464A>C | CA395137595 | PALB2 | c.3562T>G (p.Ser1188Ala) c.*1041T>G (n.*1041T>G) c.*191T>G (n.*191T>G) c.3400T>G (p.Ser1134Ala) c.2671T>G (p.Ser891Ala) n.4903T>G c.2509T>G (p.Ser837Ala) n.4076T>G n.2760T>G n.2251T>G c.*333T>G (n.*333T>G) c.1090T>G (p.Ser364Ala) c.3556T>G (p.Ser1186Ala) c.322T>G n.4264T>G c.3325T>G (p.Ser1109Ala) c.3319T>G (p.Ser1107Ala) | |
16 | g.23603464A>G | CA395137600 | PALB2 | c.3562T>C (p.Ser1188Pro) c.*1041T>C (n.*1041T>C) c.*191T>C (n.*191T>C) c.3400T>C (p.Ser1134Pro) c.2671T>C (p.Ser891Pro) n.4903T>C c.2509T>C (p.Ser837Pro) n.4076T>C n.2760T>C n.2251T>C c.*333T>C (n.*333T>C) c.1090T>C (p.Ser364Pro) c.3556T>C (p.Ser1186Pro) c.322T>C n.4264T>C c.3325T>C (p.Ser1109Pro) c.3319T>C (p.Ser1107Pro) | |
16 | g.23603464A>T | CA395137597 | PALB2 | c.3562T>A (p.Ser1188Thr) c.*1041T>A (n.*1041T>A) c.*191T>A (n.*191T>A) c.3400T>A (p.Ser1134Thr) c.2671T>A (p.Ser891Thr) n.4903T>A c.2509T>A (p.Ser837Thr) n.4076T>A n.2760T>A n.2251T>A c.*333T>A (n.*333T>A) c.1090T>A (p.Ser364Thr) c.3556T>A (p.Ser1186Thr) c.322T>A n.4264T>A c.3325T>A (p.Ser1109Thr) c.3319T>A (p.Ser1107Thr) | dbSNP |
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.23603465A>C | CA395137602 | PALB2 | c.3561T>G (p.Tyr1187Ter) c.*1040T>G (n.*1040T>G) c.*190T>G (n.*190T>G) c.3399T>G (p.Tyr1133Ter) c.2670T>G (p.Tyr890Ter) n.4902T>G c.2508T>G (p.Tyr836Ter) n.4075T>G n.2759T>G n.2250T>G c.*332T>G (n.*332T>G) c.1089T>G (p.Tyr363Ter) c.3555T>G (p.Tyr1185Ter) c.321T>G n.4263T>G c.3324T>G (p.Tyr1108Ter) c.3318T>G (p.Tyr1106Ter) | |
16 | g.23603465A>G | CA494173486 | PALB2 | c.3561T>C (p.Tyr1187=) c.*1040T>C (n.*1040T>C) c.*190T>C (n.*190T>C) c.3399T>C (p.Tyr1133=) c.2670T>C (p.Tyr890=) n.4902T>C c.2508T>C (p.Tyr836=) n.4075T>C n.2759T>C n.2250T>C c.*332T>C (n.*332T>C) c.1089T>C (p.Tyr363=) c.3555T>C (p.Tyr1185=) c.321T>C n.4263T>C c.3324T>C (p.Tyr1108=) c.3318T>C (p.Tyr1106=) | ClinVar |
16 | g.23603465A>T | CA395137604 | PALB2 | c.3561T>A (p.Tyr1187Ter) c.*1040T>A (n.*1040T>A) c.*190T>A (n.*190T>A) c.3399T>A (p.Tyr1133Ter) c.2670T>A (p.Tyr890Ter) n.4902T>A c.2508T>A (p.Tyr836Ter) n.4075T>A n.2759T>A n.2250T>A c.*332T>A (n.*332T>A) c.1089T>A (p.Tyr363Ter) c.3555T>A (p.Tyr1185Ter) c.321T>A n.4263T>A c.3324T>A (p.Tyr1108Ter) c.3318T>A (p.Tyr1106Ter) | dbSNP |
16 | g.23603466T>A | CA395137606 | PALB2 | c.3560A>T (p.Tyr1187Phe) c.*1039A>T (n.*1039A>T) c.*189A>T (n.*189A>T) c.3398A>T (p.Tyr1133Phe) c.2669A>T (p.Tyr890Phe) n.4901A>T c.2507A>T (p.Tyr836Phe) n.4074A>T n.2758A>T n.2249A>T c.*331A>T (n.*331A>T) c.1088A>T (p.Tyr363Phe) c.3554A>T (p.Tyr1185Phe) c.320A>T n.4262A>T c.3323A>T (p.Tyr1108Phe) c.3317A>T (p.Tyr1106Phe) | dbSNP |
16 | g.23603466T>C | CA395137610 | PALB2 | c.3560A>G (p.Tyr1187Cys) c.*1039A>G (n.*1039A>G) c.*189A>G (n.*189A>G) c.3398A>G (p.Tyr1133Cys) c.2669A>G (p.Tyr890Cys) n.4901A>G c.2507A>G (p.Tyr836Cys) n.4074A>G n.2758A>G n.2249A>G c.*331A>G (n.*331A>G) c.1088A>G (p.Tyr363Cys) c.3554A>G (p.Tyr1185Cys) c.320A>G n.4262A>G c.3323A>G (p.Tyr1108Cys) c.3317A>G (p.Tyr1106Cys) | |
16 | g.23603466T>G | CA395137613 | PALB2 | c.3560A>C (p.Tyr1187Ser) c.*1039A>C (n.*1039A>C) c.*189A>C (n.*189A>C) c.3398A>C (p.Tyr1133Ser) c.2669A>C (p.Tyr890Ser) n.4901A>C c.2507A>C (p.Tyr836Ser) n.4074A>C n.2758A>C n.2249A>C c.*331A>C (n.*331A>C) c.1088A>C (p.Tyr363Ser) c.3554A>C (p.Tyr1185Ser) c.320A>C n.4262A>C c.3323A>C (p.Tyr1108Ser) c.3317A>C (p.Tyr1106Ser) | |
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=) | |
16 | g.23603476C>G | CA10579910 | PALB2 | c.3550G>C (p.Val1184Leu) c.*1029G>C (n.*1029G>C) c.*179G>C (n.*179G>C) c.3388G>C (p.Val1130Leu) c.2659G>C (p.Val887Leu) n.4891G>C c.2497G>C (p.Val833Leu) n.4064G>C n.2748G>C n.2239G>C c.*321G>C (n.*321G>C) c.1078G>C (p.Val360Leu) c.3544G>C (p.Val1182Leu) c.310G>C n.4252G>C c.3313G>C (p.Val1105Leu) c.3307G>C (p.Val1103Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.23603476C>T | CA395137684 | PALB2 | c.3550G>A (p.Val1184Ile) c.*1029G>A (n.*1029G>A) c.*179G>A (n.*179G>A) c.3388G>A (p.Val1130Ile) c.2659G>A (p.Val887Ile) n.4891G>A c.2497G>A (p.Val833Ile) n.4064G>A n.2748G>A n.2239G>A c.*321G>A (n.*321G>A) c.1078G>A (p.Val360Ile) c.3544G>A (p.Val1182Ile) c.310G>A n.4252G>A c.3313G>A (p.Val1105Ile) c.3307G>A (p.Val1103Ile) | dbSNP gnomAD v4 |
16 | g.23603476_23603477delinsCA | CA2213424274 | PALB2 | c.3549_3550delinsTG (p.Phe1183=) c.*1028_*1029delinsTG (n.*1028_*1029delinsTG) c.*178_*179delinsTG (n.*178_*179delinsTG) c.3387_3388delinsTG (p.Phe1129=) c.2658_2659delinsTG (p.Phe886=) n.4890_4891delinsTG c.2496_2497delinsTG (p.Phe832=) n.4063_4064delinsTG n.2747_2748delinsTG n.2238_2239delinsTG c.*320_*321delinsTG (n.*320_*321delinsTG) c.1077_1078delinsTG (p.Phe359=) c.3543_3544delinsTG (p.Phe1181=) c.309_310delinsTG n.4251_4252delinsTG c.3312_3313delinsTG (p.Phe1104=) c.3306_3307delinsTG (p.Phe1102=) | |
16 | g.23603476_23603480delinsCAAAT | CA2213424273 | PALB2 | c.3546_3550delinsATTTG (p.Ile1182=) c.*1025_*1029delinsATTTG (n.*1025_*1029delinsATTTG) c.*175_*179delinsATTTG (n.*175_*179delinsATTTG) c.3384_3388delinsATTTG (p.Ile1128=) c.2655_2659delinsATTTG (p.Ile885=) n.4887_4891delinsATTTG c.2493_2497delinsATTTG (p.Ile831=) n.4060_4064delinsATTTG n.2744_2748delinsATTTG n.2235_2239delinsATTTG c.*317_*321delinsATTTG (n.*317_*321delinsATTTG) c.1074_1078delinsATTTG (p.Ile358=) c.3540_3544delinsATTTG (p.Ile1180=) c.306_310delinsATTTG n.4248_4252delinsATTTG c.3309_3313delinsATTTG (p.Ile1103=) c.3303_3307delinsATTTG (p.Ile1101=) | |
16 | g.23603477A>C | CA395137686 | PALB2 | c.3549T>G (p.Phe1183Leu) c.*1028T>G (n.*1028T>G) c.*178T>G (n.*178T>G) c.3387T>G (p.Phe1129Leu) c.2658T>G (p.Phe886Leu) n.4890T>G c.2496T>G (p.Phe832Leu) n.4063T>G n.2747T>G n.2238T>G c.*320T>G (n.*320T>G) c.1077T>G (p.Phe359Leu) c.3543T>G (p.Phe1181Leu) c.309T>G n.4251T>G c.3312T>G (p.Phe1104Leu) c.3306T>G (p.Phe1102Leu) | |
16 | g.23603477A>G | CA494173497 | PALB2 | c.3549T>C (p.Phe1183=) c.*1028T>C (n.*1028T>C) c.*178T>C (n.*178T>C) c.3387T>C (p.Phe1129=) c.2658T>C (p.Phe886=) n.4890T>C c.2496T>C (p.Phe832=) n.4063T>C n.2747T>C n.2238T>C c.*320T>C (n.*320T>C) c.1077T>C (p.Phe359=) c.3543T>C (p.Phe1181=) c.309T>C n.4251T>C c.3312T>C (p.Phe1104=) c.3306T>C (p.Phe1102=) | |
16 | g.23603477A>T | CA395137689 | PALB2 | c.3549T>A (p.Phe1183Leu) c.*1028T>A (n.*1028T>A) c.*178T>A (n.*178T>A) c.3387T>A (p.Phe1129Leu) c.2658T>A (p.Phe886Leu) n.4890T>A c.2496T>A (p.Phe832Leu) n.4063T>A n.2747T>A n.2238T>A c.*320T>A (n.*320T>A) c.1077T>A (p.Phe359Leu) c.3543T>A (p.Phe1181Leu) c.309T>A n.4251T>A c.3312T>A (p.Phe1104Leu) c.3306T>A (p.Phe1102Leu) | dbSNP |
16 | g.23603478_23603479dup | CA891843569 | PALB2 | c.3548_3549dup (p.Val1184LeufsTer10) c.*1027_*1028dup (n.*1027_*1028dup) c.*177_*178dup (n.*177_*178dup) c.3386_3387dup (p.Val1130LeufsTer10) c.2657_2658dup (p.Val887LeufsTer10) n.4889_4890dup c.2495_2496dup (p.Val833LeufsTer10) n.4062_4063dup n.2746_2747dup n.2237_2238dup c.*319_*320dup (n.*319_*320dup) c.1076_1077dup (p.Val360LeufsTer10) c.3542_3543dup (p.Val1182LeufsTer10) c.308_309dup n.4250_4251dup c.3311_3312dup (p.Val1105LeufsTer10) c.3305_3306dup (p.Val1103LeufsTer10) | ClinVar dbSNP |
16 | g.23603479del | CA1139664609 | PALB2 | c.3549del (p.Phe1183LeufsTer10) c.*1028del (n.*1028del) c.*178del (n.*178del) c.3387del (p.Phe1129LeufsTer10) c.2658del (p.Phe886LeufsTer10) n.4890del c.2496del (p.Phe832LeufsTer10) n.4063del n.2747del n.2238del c.*320del (n.*320del) c.1077del (p.Phe359LeufsTer10) c.3543del (p.Phe1181LeufsTer10) c.309del n.4251del c.3312del (p.Phe1104LeufsTer10) c.3306del (p.Phe1102LeufsTer10) | ClinVar dbSNP |
16 | g.23603478_23603481del | CA891843568 | PALB2 | c.3546_3549del (p.Ile1182MetfsTer10) c.*1025_*1028del (n.*1025_*1028del) c.*175_*178del (n.*175_*178del) c.3384_3387del (p.Ile1128MetfsTer10) c.2655_2658del (p.Ile885MetfsTer10) n.4887_4890del c.2493_2496del (p.Ile831MetfsTer10) n.4060_4063del n.2744_2747del n.2235_2238del c.*317_*320del (n.*317_*320del) c.1074_1077del (p.Ile358MetfsTer10) c.3540_3543del (p.Ile1180MetfsTer10) c.306_309del n.4248_4251del c.3309_3312del (p.Ile1103MetfsTer10) c.3303_3306del (p.Ile1101MetfsTer10) | ClinVar dbSNP |
16 | g.23603477_23603483delinsAAATATA | CA2213424280 | PALB2 | c.3543_3549delinsTATATTT (p.Asn1181=) c.*1022_*1028delinsTATATTT (n.*1022_*1028delinsTATATTT) c.*172_*178delinsTATATTT (n.*172_*178delinsTATATTT) c.3381_3387delinsTATATTT (p.Asn1127=) c.2652_2658delinsTATATTT (p.Asn884=) n.4884_4890delinsTATATTT c.2490_2496delinsTATATTT (p.Asn830=) n.4057_4063delinsTATATTT n.2741_2747delinsTATATTT n.2232_2238delinsTATATTT c.*314_*320delinsTATATTT (n.*314_*320delinsTATATTT) c.1071_1077delinsTATATTT (p.Asn357=) c.3537_3543delinsTATATTT (p.Asn1179=) c.303_309delinsTATATTT n.4245_4251delinsTATATTT c.3306_3312delinsTATATTT (p.Asn1102=) c.3300_3306delinsTATATTT (p.Asn1100=) | |
16 | g.23603478A= | CA2213424283 | PALB2 | c.3548T= (p.Phe1183=) c.*1027T= (n.*1027T=) c.*177T= (n.*177T=) c.3386T= (p.Phe1129=) c.2657T= (p.Phe886=) n.4889T= c.2495T= (p.Phe832=) n.4062T= n.2746T= n.2237T= c.*319T= (n.*319T=) c.1076T= (p.Phe359=) c.3542T= (p.Phe1181=) c.308T= n.4250T= c.3311T= (p.Phe1104=) c.3305T= (p.Phe1102=) | |
16 | g.23603478A>C | CA395137692 | PALB2 | c.3548T>G (p.Phe1183Cys) c.*1027T>G (n.*1027T>G) c.*177T>G (n.*177T>G) c.3386T>G (p.Phe1129Cys) c.2657T>G (p.Phe886Cys) n.4889T>G c.2495T>G (p.Phe832Cys) n.4062T>G n.2746T>G n.2237T>G c.*319T>G (n.*319T>G) c.1076T>G (p.Phe359Cys) c.3542T>G (p.Phe1181Cys) c.308T>G n.4250T>G c.3311T>G (p.Phe1104Cys) c.3305T>G (p.Phe1102Cys) | |
16 | g.23603478A>G | CA166247 | PALB2 | c.3548T>C (p.Phe1183Ser) c.*1027T>C (n.*1027T>C) c.*177T>C (n.*177T>C) c.3386T>C (p.Phe1129Ser) c.2657T>C (p.Phe886Ser) n.4889T>C c.2495T>C (p.Phe832Ser) n.4062T>C n.2746T>C n.2237T>C c.*319T>C (n.*319T>C) c.1076T>C (p.Phe359Ser) c.3542T>C (p.Phe1181Ser) c.308T>C n.4250T>C c.3311T>C (p.Phe1104Ser) c.3305T>C (p.Phe1102Ser) | ClinVar dbSNP |
16 | g.23603478A>T | CA395137704 | PALB2 | c.3548T>A (p.Phe1183Tyr) c.*1027T>A (n.*1027T>A) c.*177T>A (n.*177T>A) c.3386T>A (p.Phe1129Tyr) c.2657T>A (p.Phe886Tyr) n.4889T>A c.2495T>A (p.Phe832Tyr) n.4062T>A n.2746T>A n.2237T>A c.*319T>A (n.*319T>A) c.1076T>A (p.Phe359Tyr) c.3542T>A (p.Phe1181Tyr) c.308T>A n.4250T>A c.3311T>A (p.Phe1104Tyr) c.3305T>A (p.Phe1102Tyr) | |
16 | g.23603478_23603483delinsTT | CA915949154 | PALB2 | c.3543_3548delinsAA (p.Asn1181LysfsTer11) c.*1022_*1027delinsAA (n.*1022_*1027delinsAA) c.*172_*177delinsAA (n.*172_*177delinsAA) c.3381_3386delinsAA (p.Asn1127LysfsTer11) c.2652_2657delinsAA (p.Asn884LysfsTer11) n.4884_4889delinsAA c.2490_2495delinsAA (p.Asn830LysfsTer11) n.4057_4062delinsAA n.2741_2746delinsAA n.2232_2237delinsAA c.*314_*319delinsAA (n.*314_*319delinsAA) c.1071_1076delinsAA (p.Asn357LysfsTer11) c.3537_3542delinsAA (p.Asn1179LysfsTer11) c.303_308delinsAA n.4245_4250delinsAA c.3306_3311delinsAA (p.Asn1102LysfsTer11) c.3300_3305delinsAA (p.Asn1100LysfsTer11) | ClinVar dbSNP |
16 | g.23603479A>C | CA395137713 | PALB2 | c.3547T>G (p.Phe1183Val) c.*1026T>G (n.*1026T>G) c.*176T>G (n.*176T>G) c.3385T>G (p.Phe1129Val) c.2656T>G (p.Phe886Val) n.4888T>G c.2494T>G (p.Phe832Val) n.4061T>G n.2745T>G n.2236T>G c.*318T>G (n.*318T>G) c.1075T>G (p.Phe359Val) c.3541T>G (p.Phe1181Val) c.307T>G n.4249T>G c.3310T>G (p.Phe1104Val) c.3304T>G (p.Phe1102Val) | |
16 | g.23603479A>G | CA395137714 | PALB2 | c.3547T>C (p.Phe1183Leu) c.*1026T>C (n.*1026T>C) c.*176T>C (n.*176T>C) c.3385T>C (p.Phe1129Leu) c.2656T>C (p.Phe886Leu) n.4888T>C c.2494T>C (p.Phe832Leu) n.4061T>C n.2745T>C n.2236T>C c.*318T>C (n.*318T>C) c.1075T>C (p.Phe359Leu) c.3541T>C (p.Phe1181Leu) c.307T>C n.4249T>C c.3310T>C (p.Phe1104Leu) c.3304T>C (p.Phe1102Leu) | |
16 | g.23603479A>T | CA395137715 | PALB2 | c.3547T>A (p.Phe1183Ile) c.*1026T>A (n.*1026T>A) c.*176T>A (n.*176T>A) c.3385T>A (p.Phe1129Ile) c.2656T>A (p.Phe886Ile) n.4888T>A c.2494T>A (p.Phe832Ile) n.4061T>A n.2745T>A n.2236T>A c.*318T>A (n.*318T>A) c.1075T>A (p.Phe359Ile) c.3541T>A (p.Phe1181Ile) c.307T>A n.4249T>A c.3310T>A (p.Phe1104Ile) c.3304T>A (p.Phe1102Ile) | dbSNP |
16 | g.23603480T>A | CA494173500 | PALB2 | c.3546A>T (p.Ile1182=) c.*1025A>T (n.*1025A>T) c.*175A>T (n.*175A>T) c.3384A>T (p.Ile1128=) c.2655A>T (p.Ile885=) n.4887A>T c.2493A>T (p.Ile831=) n.4060A>T n.2744A>T n.2235A>T c.*317A>T (n.*317A>T) c.1074A>T (p.Ile358=) c.3540A>T (p.Ile1180=) c.306A>T n.4248A>T c.3309A>T (p.Ile1103=) c.3303A>T (p.Ile1101=) | dbSNP |
16 | g.23603480T>C | CA395137719 | PALB2 | c.3546A>G (p.Ile1182Met) c.*1025A>G (n.*1025A>G) c.*175A>G (n.*175A>G) c.3384A>G (p.Ile1128Met) c.2655A>G (p.Ile885Met) n.4887A>G c.2493A>G (p.Ile831Met) n.4060A>G n.2744A>G n.2235A>G c.*317A>G (n.*317A>G) c.1074A>G (p.Ile358Met) c.3540A>G (p.Ile1180Met) c.306A>G n.4248A>G c.3309A>G (p.Ile1103Met) c.3303A>G (p.Ile1101Met) | ClinVar dbSNP gnomAD v4 |
16 | g.23603480T>G | CA494173501 | PALB2 | c.3546A>C (p.Ile1182=) c.*1025A>C (n.*1025A>C) c.*175A>C (n.*175A>C) c.3384A>C (p.Ile1128=) c.2655A>C (p.Ile885=) n.4887A>C c.2493A>C (p.Ile831=) n.4060A>C n.2744A>C n.2235A>C c.*317A>C (n.*317A>C) c.1074A>C (p.Ile358=) c.3540A>C (p.Ile1180=) c.306A>C n.4248A>C c.3309A>C (p.Ile1103=) c.3303A>C (p.Ile1101=) | |
16 | g.23603480T= | CA2213424286 | PALB2 | c.3546A= (p.Ile1182=) c.*1025A= (n.*1025A=) c.*175A= (n.*175A=) c.3384A= (p.Ile1128=) c.2655A= (p.Ile885=) n.4887A= c.2493A= (p.Ile831=) n.4060A= n.2744A= n.2235A= c.*317A= (n.*317A=) c.1074A= (p.Ile358=) c.3540A= (p.Ile1180=) c.306A= n.4248A= c.3309A= (p.Ile1103=) c.3303A= (p.Ile1101=) | |
16 | g.23603481_23603493del | CA2573152140 | PALB2 | c.3534_3546del (p.Lys1178AsnfsTer11) c.*1013_*1025del (n.*1013_*1025del) c.*163_*175del (n.*163_*175del) c.3372_3384del (p.Lys1124AsnfsTer11) c.2643_2655del (p.Lys881AsnfsTer11) n.4875_4887del c.2481_2493del (p.Lys827AsnfsTer11) n.4048_4060del n.2732_2744del n.2223_2235del c.*305_*317del (n.*305_*317del) c.1062_1074del (p.Lys354AsnfsTer11) c.3528_3540del (p.Lys1176AsnfsTer11) c.294_306del n.4236_4248del c.3297_3309del (p.Lys1099AsnfsTer11) c.3291_3303del (p.Lys1097AsnfsTer11) | ClinVar dbSNP |
16 | g.23603481A= | CA2213424288 | PALB2 | c.3545T= (p.Ile1182=) c.*1024T= (n.*1024T=) c.*174T= (n.*174T=) c.3383T= (p.Ile1128=) c.2654T= (p.Ile885=) n.4886T= c.2492T= (p.Ile831=) n.4059T= n.2743T= n.2234T= c.*316T= (n.*316T=) c.1073T= (p.Ile358=) c.3539T= (p.Ile1180=) c.305T= n.4247T= c.3308T= (p.Ile1103=) c.3302T= (p.Ile1101=) | |
16 | g.23603481A>C | CA395137726 | PALB2 | c.3545T>G (p.Ile1182Arg) c.*1024T>G (n.*1024T>G) c.*174T>G (n.*174T>G) c.3383T>G (p.Ile1128Arg) c.2654T>G (p.Ile885Arg) n.4886T>G c.2492T>G (p.Ile831Arg) n.4059T>G n.2743T>G n.2234T>G c.*316T>G (n.*316T>G) c.1073T>G (p.Ile358Arg) c.3539T>G (p.Ile1180Arg) c.305T>G n.4247T>G c.3308T>G (p.Ile1103Arg) c.3302T>G (p.Ile1101Arg) | |
16 | g.23603481A>G | CA269625 | PALB2 | c.3545T>C (p.Ile1182Thr) c.*1024T>C (n.*1024T>C) c.*174T>C (n.*174T>C) c.3383T>C (p.Ile1128Thr) c.2654T>C (p.Ile885Thr) n.4886T>C c.2492T>C (p.Ile831Thr) n.4059T>C n.2743T>C n.2234T>C c.*316T>C (n.*316T>C) c.1073T>C (p.Ile358Thr) c.3539T>C (p.Ile1180Thr) c.305T>C n.4247T>C c.3308T>C (p.Ile1103Thr) c.3302T>C (p.Ile1101Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603481A>T | CA395137724 | PALB2 | c.3545T>A (p.Ile1182Lys) c.*1024T>A (n.*1024T>A) c.*174T>A (n.*174T>A) c.3383T>A (p.Ile1128Lys) c.2654T>A (p.Ile885Lys) n.4886T>A c.2492T>A (p.Ile831Lys) n.4059T>A n.2743T>A n.2234T>A c.*316T>A (n.*316T>A) c.1073T>A (p.Ile358Lys) c.3539T>A (p.Ile1180Lys) c.305T>A n.4247T>A c.3308T>A (p.Ile1103Lys) c.3302T>A (p.Ile1101Lys) | dbSNP |
16 | g.23603482T>A | CA395137729 | PALB2 | c.3544A>T (p.Ile1182Leu) c.*1023A>T (n.*1023A>T) c.*173A>T (n.*173A>T) c.3382A>T (p.Ile1128Leu) c.2653A>T (p.Ile885Leu) n.4885A>T c.2491A>T (p.Ile831Leu) n.4058A>T n.2742A>T n.2233A>T c.*315A>T (n.*315A>T) c.1072A>T (p.Ile358Leu) c.3538A>T (p.Ile1180Leu) c.304A>T n.4246A>T c.3307A>T (p.Ile1103Leu) c.3301A>T (p.Ile1101Leu) | |
16 | g.23603482T>C | CA335883 | PALB2 | c.3544A>G (p.Ile1182Val) c.*1023A>G (n.*1023A>G) c.*173A>G (n.*173A>G) c.3382A>G (p.Ile1128Val) c.2653A>G (p.Ile885Val) n.4885A>G c.2491A>G (p.Ile831Val) n.4058A>G n.2742A>G n.2233A>G c.*315A>G (n.*315A>G) c.1072A>G (p.Ile358Val) c.3538A>G (p.Ile1180Val) c.304A>G n.4246A>G c.3307A>G (p.Ile1103Val) c.3301A>G (p.Ile1101Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603482T>G | CA395137736 | PALB2 | c.3544A>C (p.Ile1182Leu) c.*1023A>C (n.*1023A>C) c.*173A>C (n.*173A>C) c.3382A>C (p.Ile1128Leu) c.2653A>C (p.Ile885Leu) n.4885A>C c.2491A>C (p.Ile831Leu) n.4058A>C n.2742A>C n.2233A>C c.*315A>C (n.*315A>C) c.1072A>C (p.Ile358Leu) c.3538A>C (p.Ile1180Leu) c.304A>C n.4246A>C c.3307A>C (p.Ile1103Leu) c.3301A>C (p.Ile1101Leu) | |
16 | g.23603482T= | CA2213424290 | PALB2 | c.3544A= (p.Ile1182=) c.*1023A= (n.*1023A=) c.*173A= (n.*173A=) c.3382A= (p.Ile1128=) c.2653A= (p.Ile885=) n.4885A= c.2491A= (p.Ile831=) n.4058A= n.2742A= n.2233A= c.*315A= (n.*315A=) c.1072A= (p.Ile358=) c.3538A= (p.Ile1180=) c.304A= n.4246A= c.3307A= (p.Ile1103=) c.3301A= (p.Ile1101=) | |
16 | g.23603483A= | CA2213424292 | PALB2 | c.3543T= (p.Asn1181=) c.*1022T= (n.*1022T=) c.*172T= (n.*172T=) c.3381T= (p.Asn1127=) c.2652T= (p.Asn884=) n.4884T= c.2490T= (p.Asn830=) n.4057T= n.2741T= n.2232T= c.*314T= (n.*314T=) c.1071T= (p.Asn357=) c.3537T= (p.Asn1179=) c.303T= n.4245T= c.3306T= (p.Asn1102=) c.3300T= (p.Asn1100=) | |
16 | g.23603483A>C | CA395137741 | PALB2 | c.3543T>G (p.Asn1181Lys) c.*1022T>G (n.*1022T>G) c.*172T>G (n.*172T>G) c.3381T>G (p.Asn1127Lys) c.2652T>G (p.Asn884Lys) n.4884T>G c.2490T>G (p.Asn830Lys) n.4057T>G n.2741T>G n.2232T>G c.*314T>G (n.*314T>G) c.1071T>G (p.Asn357Lys) c.3537T>G (p.Asn1179Lys) c.303T>G n.4245T>G c.3306T>G (p.Asn1102Lys) c.3300T>G (p.Asn1100Lys) | |
16 | g.23603483A>G | CA494173506 | PALB2 | c.3543T>C (p.Asn1181=) c.*1022T>C (n.*1022T>C) c.*172T>C (n.*172T>C) c.3381T>C (p.Asn1127=) c.2652T>C (p.Asn884=) n.4884T>C c.2490T>C (p.Asn830=) n.4057T>C n.2741T>C n.2232T>C c.*314T>C (n.*314T>C) c.1071T>C (p.Asn357=) c.3537T>C (p.Asn1179=) c.303T>C n.4245T>C c.3306T>C (p.Asn1102=) c.3300T>C (p.Asn1100=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603483A>T | CA395137744 | PALB2 | c.3543T>A (p.Asn1181Lys) c.*1022T>A (n.*1022T>A) c.*172T>A (n.*172T>A) c.3381T>A (p.Asn1127Lys) c.2652T>A (p.Asn884Lys) n.4884T>A c.2490T>A (p.Asn830Lys) n.4057T>A n.2741T>A n.2232T>A c.*314T>A (n.*314T>A) c.1071T>A (p.Asn357Lys) c.3537T>A (p.Asn1179Lys) c.303T>A n.4245T>A c.3306T>A (p.Asn1102Lys) c.3300T>A (p.Asn1100Lys) | ClinVar dbSNP |
16 | g.23603485_23603490del | CA2573152141 | PALB2 | c.3538_3543del (p.Gly1180_Asn1181del) c.*1017_*1022del (n.*1017_*1022del) c.*167_*172del (n.*167_*172del) c.3376_3381del (p.Gly1126_Asn1127del) c.2647_2652del (p.Gly883_Asn884del) n.4879_4884del c.2485_2490del (p.Gly829_Asn830del) n.4052_4057del n.2736_2741del n.2227_2232del c.*309_*314del (n.*309_*314del) c.1066_1071del (p.Gly356_Asn357del) c.3532_3537del (p.Gly1178_Asn1179del) c.298_303del n.4240_4245del c.3301_3306del (p.Gly1101_Asn1102del) c.3295_3300del (p.Gly1099_Asn1100del) | ClinVar dbSNP |
16 | g.23603484T>A | CA395137746 | PALB2 | c.3542A>T (p.Asn1181Ile) c.*1021A>T (n.*1021A>T) c.*171A>T (n.*171A>T) c.3380A>T (p.Asn1127Ile) c.2651A>T (p.Asn884Ile) n.4883A>T c.2489A>T (p.Asn830Ile) n.4056A>T n.2740A>T n.2231A>T c.*313A>T (n.*313A>T) c.1070A>T (p.Asn357Ile) c.3536A>T (p.Asn1179Ile) c.302A>T n.4244A>T c.3305A>T (p.Asn1102Ile) c.3299A>T (p.Asn1100Ile) | |
16 | g.23603484T>C | CA395137750 | PALB2 | c.3542A>G (p.Asn1181Ser) c.*1021A>G (n.*1021A>G) c.*171A>G (n.*171A>G) c.3380A>G (p.Asn1127Ser) c.2651A>G (p.Asn884Ser) n.4883A>G c.2489A>G (p.Asn830Ser) n.4056A>G n.2740A>G n.2231A>G c.*313A>G (n.*313A>G) c.1070A>G (p.Asn357Ser) c.3536A>G (p.Asn1179Ser) c.302A>G n.4244A>G c.3305A>G (p.Asn1102Ser) c.3299A>G (p.Asn1100Ser) | ClinVar dbSNP |
16 | g.23603484T>G | CA395137751 | PALB2 | c.3542A>C (p.Asn1181Thr) c.*1021A>C (n.*1021A>C) c.*171A>C (n.*171A>C) c.3380A>C (p.Asn1127Thr) c.2651A>C (p.Asn884Thr) n.4883A>C c.2489A>C (p.Asn830Thr) n.4056A>C n.2740A>C n.2231A>C c.*313A>C (n.*313A>C) c.1070A>C (p.Asn357Thr) c.3536A>C (p.Asn1179Thr) c.302A>C n.4244A>C c.3305A>C (p.Asn1102Thr) c.3299A>C (p.Asn1100Thr) | |
16 | g.23603484T= | CA2213424295 | PALB2 | c.3542A= (p.Asn1181=) c.*1021A= (n.*1021A=) c.*171A= (n.*171A=) c.3380A= (p.Asn1127=) c.2651A= (p.Asn884=) n.4883A= c.2489A= (p.Asn830=) n.4056A= n.2740A= n.2231A= c.*313A= (n.*313A=) c.1070A= (p.Asn357=) c.3536A= (p.Asn1179=) c.302A= n.4244A= c.3305A= (p.Asn1102=) c.3299A= (p.Asn1100=) | |
16 | g.23603485T>A | CA395137754 | PALB2 | c.3541A>T (p.Asn1181Tyr) c.*1020A>T (n.*1020A>T) c.*170A>T (n.*170A>T) c.3379A>T (p.Asn1127Tyr) c.2650A>T (p.Asn884Tyr) n.4882A>T c.2488A>T (p.Asn830Tyr) n.4055A>T n.2739A>T n.2230A>T c.*312A>T (n.*312A>T) c.1069A>T (p.Asn357Tyr) c.3535A>T (p.Asn1179Tyr) c.301A>T n.4243A>T c.3304A>T (p.Asn1102Tyr) c.3298A>T (p.Asn1100Tyr) | dbSNP |
16 | g.23603485T>C | CA395137755 | PALB2 | c.3541A>G (p.Asn1181Asp) c.*1020A>G (n.*1020A>G) c.*170A>G (n.*170A>G) c.3379A>G (p.Asn1127Asp) c.2650A>G (p.Asn884Asp) n.4882A>G c.2488A>G (p.Asn830Asp) n.4055A>G n.2739A>G n.2230A>G c.*312A>G (n.*312A>G) c.1069A>G (p.Asn357Asp) c.3535A>G (p.Asn1179Asp) c.301A>G n.4243A>G c.3304A>G (p.Asn1102Asp) c.3298A>G (p.Asn1100Asp) | dbSNP |
16 | g.23603485T>G | CA395137758 | PALB2 | c.3541A>C (p.Asn1181His) c.*1020A>C (n.*1020A>C) c.*170A>C (n.*170A>C) c.3379A>C (p.Asn1127His) c.2650A>C (p.Asn884His) n.4882A>C c.2488A>C (p.Asn830His) n.4055A>C n.2739A>C n.2230A>C c.*312A>C (n.*312A>C) c.1069A>C (p.Asn357His) c.3535A>C (p.Asn1179His) c.301A>C n.4243A>C c.3304A>C (p.Asn1102His) c.3298A>C (p.Asn1100His) | |
16 | g.23603486T>A | CA494173508 | PALB2 | c.3540A>T (p.Gly1180=) c.*1019A>T (n.*1019A>T) c.*169A>T (n.*169A>T) c.3378A>T (p.Gly1126=) c.2649A>T (p.Gly883=) n.4881A>T c.2487A>T (p.Gly829=) n.4054A>T n.2738A>T n.2229A>T c.*311A>T (n.*311A>T) c.1068A>T (p.Gly356=) c.3534A>T (p.Gly1178=) c.300A>T n.4242A>T c.3303A>T (p.Gly1101=) c.3297A>T (p.Gly1099=) | ClinVar |
16 | g.23603486T>C | CA494173509 | PALB2 | c.3540A>G (p.Gly1180=) c.*1019A>G (n.*1019A>G) c.*169A>G (n.*169A>G) c.3378A>G (p.Gly1126=) c.2649A>G (p.Gly883=) n.4881A>G c.2487A>G (p.Gly829=) n.4054A>G n.2738A>G n.2229A>G c.*311A>G (n.*311A>G) c.1068A>G (p.Gly356=) c.3534A>G (p.Gly1178=) c.300A>G n.4242A>G c.3303A>G (p.Gly1101=) c.3297A>G (p.Gly1099=) | |
16 | g.23603486T>G | CA494173510 | PALB2 | c.3540A>C (p.Gly1180=) c.*1019A>C (n.*1019A>C) c.*169A>C (n.*169A>C) c.3378A>C (p.Gly1126=) c.2649A>C (p.Gly883=) n.4881A>C c.2487A>C (p.Gly829=) n.4054A>C n.2738A>C n.2229A>C c.*311A>C (n.*311A>C) c.1068A>C (p.Gly356=) c.3534A>C (p.Gly1178=) c.300A>C n.4242A>C c.3303A>C (p.Gly1101=) c.3297A>C (p.Gly1099=) | |
16 | g.23603487C>A | CA395137763 | PALB2 | c.3539G>T (p.Gly1180Val) c.*1018G>T (n.*1018G>T) c.*168G>T (n.*168G>T) c.3377G>T (p.Gly1126Val) c.2648G>T (p.Gly883Val) n.4880G>T c.2486G>T (p.Gly829Val) n.4053G>T n.2737G>T n.2228G>T c.*310G>T (n.*310G>T) c.1067G>T (p.Gly356Val) c.3533G>T (p.Gly1178Val) c.299G>T n.4241G>T c.3302G>T (p.Gly1101Val) c.3296G>T (p.Gly1099Val) | |
16 | g.23603487C= | CA2213424297 | PALB2 | c.3539G= (p.Gly1180=) c.*1018G= (n.*1018G=) c.*168G= (n.*168G=) c.3377G= (p.Gly1126=) c.2648G= (p.Gly883=) n.4880G= c.2486G= (p.Gly829=) n.4053G= n.2737G= n.2228G= c.*310G= (n.*310G=) c.1067G= (p.Gly356=) c.3533G= (p.Gly1178=) c.299G= n.4241G= c.3302G= (p.Gly1101=) c.3296G= (p.Gly1099=) | |
16 | g.23603487C>G | CA395137766 | PALB2 | c.3539G>C (p.Gly1180Ala) c.*1018G>C (n.*1018G>C) c.*168G>C (n.*168G>C) c.3377G>C (p.Gly1126Ala) c.2648G>C (p.Gly883Ala) n.4880G>C c.2486G>C (p.Gly829Ala) n.4053G>C n.2737G>C n.2228G>C c.*310G>C (n.*310G>C) c.1067G>C (p.Gly356Ala) c.3533G>C (p.Gly1178Ala) c.299G>C n.4241G>C c.3302G>C (p.Gly1101Ala) c.3296G>C (p.Gly1099Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.23603487C>T | CA395137760 | PALB2 | c.3539G>A (p.Gly1180Glu) c.*1018G>A (n.*1018G>A) c.*168G>A (n.*168G>A) c.3377G>A (p.Gly1126Glu) c.2648G>A (p.Gly883Glu) n.4880G>A c.2486G>A (p.Gly829Glu) n.4053G>A n.2737G>A n.2228G>A c.*310G>A (n.*310G>A) c.1067G>A (p.Gly356Glu) c.3533G>A (p.Gly1178Glu) c.299G>A n.4241G>A c.3302G>A (p.Gly1101Glu) c.3296G>A (p.Gly1099Glu) | dbSNP |
16 | g.23603488C>A | CA395137775 | PALB2 | c.3538G>T (p.Gly1180Ter) c.*1017G>T (n.*1017G>T) c.*167G>T (n.*167G>T) c.3376G>T (p.Gly1126Ter) c.2647G>T (p.Gly883Ter) n.4879G>T c.2485G>T (p.Gly829Ter) n.4052G>T n.2736G>T n.2227G>T c.*309G>T (n.*309G>T) c.1066G>T (p.Gly356Ter) c.3532G>T (p.Gly1178Ter) c.298G>T n.4240G>T c.3301G>T (p.Gly1101Ter) c.3295G>T (p.Gly1099Ter) | |
16 | g.23603488C>G | CA395137769 | PALB2 | c.3538G>C (p.Gly1180Arg) c.*1017G>C (n.*1017G>C) c.*167G>C (n.*167G>C) c.3376G>C (p.Gly1126Arg) c.2647G>C (p.Gly883Arg) n.4879G>C c.2485G>C (p.Gly829Arg) n.4052G>C n.2736G>C n.2227G>C c.*309G>C (n.*309G>C) c.1066G>C (p.Gly356Arg) c.3532G>C (p.Gly1178Arg) c.298G>C n.4240G>C c.3301G>C (p.Gly1101Arg) c.3295G>C (p.Gly1099Arg) | dbSNP |
16 | g.23603488C>T | CA395137772 | PALB2 | c.3538G>A (p.Gly1180Arg) c.*1017G>A (n.*1017G>A) c.*167G>A (n.*167G>A) c.3376G>A (p.Gly1126Arg) c.2647G>A (p.Gly883Arg) n.4879G>A c.2485G>A (p.Gly829Arg) n.4052G>A n.2736G>A n.2227G>A c.*309G>A (n.*309G>A) c.1066G>A (p.Gly356Arg) c.3532G>A (p.Gly1178Arg) c.298G>A n.4240G>A c.3301G>A (p.Gly1101Arg) c.3295G>A (p.Gly1099Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.23603489A>C | CA395137777 | PALB2 | c.3537T>G (p.Asp1179Glu) c.*1016T>G (n.*1016T>G) c.*166T>G (n.*166T>G) c.3375T>G (p.Asp1125Glu) c.2646T>G (p.Asp882Glu) n.4878T>G c.2484T>G (p.Asp828Glu) n.4051T>G n.2735T>G n.2226T>G c.*308T>G (n.*308T>G) c.1065T>G (p.Asp355Glu) c.3531T>G (p.Asp1177Glu) c.297T>G n.4239T>G c.3300T>G (p.Asp1100Glu) c.3294T>G (p.Asp1098Glu) | |
16 | g.23603489A>G | CA494173511 | PALB2 | c.3537T>C (p.Asp1179=) c.*1016T>C (n.*1016T>C) c.*166T>C (n.*166T>C) c.3375T>C (p.Asp1125=) c.2646T>C (p.Asp882=) n.4878T>C c.2484T>C (p.Asp828=) n.4051T>C n.2735T>C n.2226T>C c.*308T>C (n.*308T>C) c.1065T>C (p.Asp355=) c.3531T>C (p.Asp1177=) c.297T>C n.4239T>C c.3300T>C (p.Asp1100=) c.3294T>C (p.Asp1098=) | |
16 | g.23603489A>T | CA395137779 | PALB2 | c.3537T>A (p.Asp1179Glu) c.*1016T>A (n.*1016T>A) c.*166T>A (n.*166T>A) c.3375T>A (p.Asp1125Glu) c.2646T>A (p.Asp882Glu) n.4878T>A c.2484T>A (p.Asp828Glu) n.4051T>A n.2735T>A n.2226T>A c.*308T>A (n.*308T>A) c.1065T>A (p.Asp355Glu) c.3531T>A (p.Asp1177Glu) c.297T>A n.4239T>A c.3300T>A (p.Asp1100Glu) c.3294T>A (p.Asp1098Glu) | dbSNP |
16 | g.23603490T>A | CA395137783 | PALB2 | c.3536A>T (p.Asp1179Val) c.*1015A>T (n.*1015A>T) c.*165A>T (n.*165A>T) c.3374A>T (p.Asp1125Val) c.2645A>T (p.Asp882Val) n.4877A>T c.2483A>T (p.Asp828Val) n.4050A>T n.2734A>T n.2225A>T c.*307A>T (n.*307A>T) c.1064A>T (p.Asp355Val) c.3530A>T (p.Asp1177Val) c.296A>T n.4238A>T c.3299A>T (p.Asp1100Val) c.3293A>T (p.Asp1098Val) | dbSNP gnomAD v4 |
16 | g.23603490T>C | CA395137785 | PALB2 | c.3536A>G (p.Asp1179Gly) c.*1015A>G (n.*1015A>G) c.*165A>G (n.*165A>G) c.3374A>G (p.Asp1125Gly) c.2645A>G (p.Asp882Gly) n.4877A>G c.2483A>G (p.Asp828Gly) n.4050A>G n.2734A>G n.2225A>G c.*307A>G (n.*307A>G) c.1064A>G (p.Asp355Gly) c.3530A>G (p.Asp1177Gly) c.296A>G n.4238A>G c.3299A>G (p.Asp1100Gly) c.3293A>G (p.Asp1098Gly) | dbSNP |
16 | g.23603490T>G | CA395137788 | PALB2 | c.3536A>C (p.Asp1179Ala) c.*1015A>C (n.*1015A>C) c.*165A>C (n.*165A>C) c.3374A>C (p.Asp1125Ala) c.2645A>C (p.Asp882Ala) n.4877A>C c.2483A>C (p.Asp828Ala) n.4050A>C n.2734A>C n.2225A>C c.*307A>C (n.*307A>C) c.1064A>C (p.Asp355Ala) c.3530A>C (p.Asp1177Ala) c.296A>C n.4238A>C c.3299A>C (p.Asp1100Ala) c.3293A>C (p.Asp1098Ala) | |
16 | g.23603491C>A | CA395137790 | PALB2 | c.3535G>T (p.Asp1179Tyr) c.*1014G>T (n.*1014G>T) c.*164G>T (n.*164G>T) c.3373G>T (p.Asp1125Tyr) c.2644G>T (p.Asp882Tyr) n.4876G>T c.2482G>T (p.Asp828Tyr) n.4049G>T n.2733G>T n.2224G>T c.*306G>T (n.*306G>T) c.1063G>T (p.Asp355Tyr) c.3529G>T (p.Asp1177Tyr) c.295G>T n.4237G>T c.3298G>T (p.Asp1100Tyr) c.3292G>T (p.Asp1098Tyr) | |
16 | g.23603491C>G | CA395137791 | PALB2 | c.3535G>C (p.Asp1179His) c.*1014G>C (n.*1014G>C) c.*164G>C (n.*164G>C) c.3373G>C (p.Asp1125His) c.2644G>C (p.Asp882His) n.4876G>C c.2482G>C (p.Asp828His) n.4049G>C n.2733G>C n.2224G>C c.*306G>C (n.*306G>C) c.1063G>C (p.Asp355His) c.3529G>C (p.Asp1177His) c.295G>C n.4237G>C c.3298G>C (p.Asp1100His) c.3292G>C (p.Asp1098His) | |
16 | g.23603491C>T | CA395137794 | PALB2 | c.3535G>A (p.Asp1179Asn) c.*1014G>A (n.*1014G>A) c.*164G>A (n.*164G>A) c.3373G>A (p.Asp1125Asn) c.2644G>A (p.Asp882Asn) n.4876G>A c.2482G>A (p.Asp828Asn) n.4049G>A n.2733G>A n.2224G>A c.*306G>A (n.*306G>A) c.1063G>A (p.Asp355Asn) c.3529G>A (p.Asp1177Asn) c.295G>A n.4237G>A c.3298G>A (p.Asp1100Asn) c.3292G>A (p.Asp1098Asn) | ClinVar gnomAD v4 |
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.23603492T>A | CA395137797 | PALB2 | c.3534A>T (p.Lys1178Asn) c.*1013A>T (n.*1013A>T) c.*163A>T (n.*163A>T) c.3372A>T (p.Lys1124Asn) c.2643A>T (p.Lys881Asn) n.4875A>T c.2481A>T (p.Lys827Asn) n.4048A>T n.2732A>T n.2223A>T c.*305A>T (n.*305A>T) c.1062A>T (p.Lys354Asn) c.3528A>T (p.Lys1176Asn) c.294A>T n.4236A>T c.3297A>T (p.Lys1099Asn) c.3291A>T (p.Lys1097Asn) | dbSNP |
16 | g.23603492T>C | CA494173513 | PALB2 | c.3534A>G (p.Lys1178=) c.*1013A>G (n.*1013A>G) c.*163A>G (n.*163A>G) c.3372A>G (p.Lys1124=) c.2643A>G (p.Lys881=) n.4875A>G c.2481A>G (p.Lys827=) n.4048A>G n.2732A>G n.2223A>G c.*305A>G (n.*305A>G) c.1062A>G (p.Lys354=) c.3528A>G (p.Lys1176=) c.294A>G n.4236A>G c.3297A>G (p.Lys1099=) c.3291A>G (p.Lys1097=) | dbSNP |
16 | g.23603492T>G | CA395137800 | PALB2 | c.3534A>C (p.Lys1178Asn) c.*1013A>C (n.*1013A>C) c.*163A>C (n.*163A>C) c.3372A>C (p.Lys1124Asn) c.2643A>C (p.Lys881Asn) n.4875A>C c.2481A>C (p.Lys827Asn) n.4048A>C n.2732A>C n.2223A>C c.*305A>C (n.*305A>C) c.1062A>C (p.Lys354Asn) c.3528A>C (p.Lys1176Asn) c.294A>C n.4236A>C c.3297A>C (p.Lys1099Asn) c.3291A>C (p.Lys1097Asn) | |
16 | g.23603493T>A | CA395137809 | PALB2 | c.3533A>T (p.Lys1178Ile) c.*1012A>T (n.*1012A>T) c.*162A>T (n.*162A>T) c.3371A>T (p.Lys1124Ile) c.2642A>T (p.Lys881Ile) n.4874A>T c.2480A>T (p.Lys827Ile) n.4047A>T n.2731A>T n.2222A>T c.*304A>T (n.*304A>T) c.1061A>T (p.Lys354Ile) c.3527A>T (p.Lys1176Ile) c.293A>T n.4235A>T c.3296A>T (p.Lys1099Ile) c.3290A>T (p.Lys1097Ile) | |
16 | g.23603493T>C | CA395137803 | PALB2 | c.3533A>G (p.Lys1178Arg) c.*1012A>G (n.*1012A>G) c.*162A>G (n.*162A>G) c.3371A>G (p.Lys1124Arg) c.2642A>G (p.Lys881Arg) n.4874A>G c.2480A>G (p.Lys827Arg) n.4047A>G n.2731A>G n.2222A>G c.*304A>G (n.*304A>G) c.1061A>G (p.Lys354Arg) c.3527A>G (p.Lys1176Arg) c.293A>G n.4235A>G c.3296A>G (p.Lys1099Arg) c.3290A>G (p.Lys1097Arg) | |
16 | g.23603493T>G | CA395137805 | PALB2 | c.3533A>C (p.Lys1178Thr) c.*1012A>C (n.*1012A>C) c.*162A>C (n.*162A>C) c.3371A>C (p.Lys1124Thr) c.2642A>C (p.Lys881Thr) n.4874A>C c.2480A>C (p.Lys827Thr) n.4047A>C n.2731A>C n.2222A>C c.*304A>C (n.*304A>C) c.1061A>C (p.Lys354Thr) c.3527A>C (p.Lys1176Thr) c.293A>C n.4235A>C c.3296A>C (p.Lys1099Thr) c.3290A>C (p.Lys1097Thr) | |
16 | g.23603494T>A | CA395137811 | PALB2 | c.3532A>T (p.Lys1178Ter) c.*1011A>T (n.*1011A>T) c.*161A>T (n.*161A>T) c.3370A>T (p.Lys1124Ter) c.2641A>T (p.Lys881Ter) n.4873A>T c.2479A>T (p.Lys827Ter) n.4046A>T n.2730A>T n.2221A>T c.*303A>T (n.*303A>T) c.1060A>T (p.Lys354Ter) c.3526A>T (p.Lys1176Ter) c.292A>T n.4234A>T c.3295A>T (p.Lys1099Ter) c.3289A>T (p.Lys1097Ter) | dbSNP |
16 | g.23603494T>C | CA395137814 | PALB2 | c.3532A>G (p.Lys1178Glu) c.*1011A>G (n.*1011A>G) c.*161A>G (n.*161A>G) c.3370A>G (p.Lys1124Glu) c.2641A>G (p.Lys881Glu) n.4873A>G c.2479A>G (p.Lys827Glu) n.4046A>G n.2730A>G n.2221A>G c.*303A>G (n.*303A>G) c.1060A>G (p.Lys354Glu) c.3526A>G (p.Lys1176Glu) c.292A>G n.4234A>G c.3295A>G (p.Lys1099Glu) c.3289A>G (p.Lys1097Glu) | ClinVar dbSNP |
16 | g.23603494T>G | CA395137817 | PALB2 | c.3532A>C (p.Lys1178Gln) c.*1011A>C (n.*1011A>C) c.*161A>C (n.*161A>C) c.3370A>C (p.Lys1124Gln) c.2641A>C (p.Lys881Gln) n.4873A>C c.2479A>C (p.Lys827Gln) n.4046A>C n.2730A>C n.2221A>C c.*303A>C (n.*303A>C) c.1060A>C (p.Lys354Gln) c.3526A>C (p.Lys1176Gln) c.292A>C n.4234A>C c.3295A>C (p.Lys1099Gln) c.3289A>C (p.Lys1097Gln) | |
16 | g.23603495T>A | CA395137819 | PALB2 | c.3531A>T (p.Gln1177His) c.*1010A>T (n.*1010A>T) c.*160A>T (n.*160A>T) c.3369A>T (p.Gln1123His) c.2640A>T (p.Gln880His) n.4872A>T c.2478A>T (p.Gln826His) n.4045A>T n.2729A>T n.2220A>T c.*302A>T (n.*302A>T) c.1059A>T (p.Gln353His) c.3525A>T (p.Gln1175His) c.291A>T n.4233A>T c.3294A>T (p.Gln1098His) c.3288A>T (p.Gln1096His) | |
16 | g.23603495T>C | CA186817 | PALB2 | c.3531A>G (p.Gln1177=) c.*1010A>G (n.*1010A>G) c.*160A>G (n.*160A>G) c.3369A>G (p.Gln1123=) c.2640A>G (p.Gln880=) n.4872A>G c.2478A>G (p.Gln826=) n.4045A>G n.2729A>G n.2220A>G c.*302A>G (n.*302A>G) c.1059A>G (p.Gln353=) c.3525A>G (p.Gln1175=) c.291A>G n.4233A>G c.3294A>G (p.Gln1098=) c.3288A>G (p.Gln1096=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603495T>G | CA395137824 | PALB2 | c.3531A>C (p.Gln1177His) c.*1010A>C (n.*1010A>C) c.*160A>C (n.*160A>C) c.3369A>C (p.Gln1123His) c.2640A>C (p.Gln880His) n.4872A>C c.2478A>C (p.Gln826His) n.4045A>C n.2729A>C n.2220A>C c.*302A>C (n.*302A>C) c.1059A>C (p.Gln353His) c.3525A>C (p.Gln1175His) c.291A>C n.4233A>C c.3294A>C (p.Gln1098His) c.3288A>C (p.Gln1096His) | |
16 | g.23603495T= | CA2213424298 | PALB2 | c.3531A= (p.Gln1177=) c.*1010A= (n.*1010A=) c.*160A= (n.*160A=) c.3369A= (p.Gln1123=) c.2640A= (p.Gln880=) n.4872A= c.2478A= (p.Gln826=) n.4045A= n.2729A= n.2220A= c.*302A= (n.*302A=) c.1059A= (p.Gln353=) c.3525A= (p.Gln1175=) c.291A= n.4233A= c.3294A= (p.Gln1098=) c.3288A= (p.Gln1096=) | |
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) | ClinVar 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 |
16 | g.23603508A>C | CA395137861 | PALB2 | c.3518T>G (p.Leu1173Trp) c.*997T>G (n.*997T>G) c.*147T>G (n.*147T>G) c.3356T>G (p.Leu1119Trp) c.2627T>G (p.Leu876Trp) n.4859T>G c.2465T>G (p.Leu822Trp) n.4032T>G n.2716T>G n.2207T>G c.*289T>G (n.*289T>G) c.1046T>G (p.Leu349Trp) c.3512T>G (p.Leu1171Trp) c.278T>G n.4220T>G c.3281T>G (p.Leu1094Trp) c.3275T>G (p.Leu1092Trp) | |
16 | g.23603508A>G | CA395137862 | PALB2 | c.3518T>C (p.Leu1173Ser) c.*997T>C (n.*997T>C) c.*147T>C (n.*147T>C) c.3356T>C (p.Leu1119Ser) c.2627T>C (p.Leu876Ser) n.4859T>C c.2465T>C (p.Leu822Ser) n.4032T>C n.2716T>C n.2207T>C c.*289T>C (n.*289T>C) c.1046T>C (p.Leu349Ser) c.3512T>C (p.Leu1171Ser) c.278T>C n.4220T>C c.3281T>C (p.Leu1094Ser) c.3275T>C (p.Leu1092Ser) | ClinVar dbSNP |
16 | g.23603508A>T | CA395137863 | PALB2 | c.3518T>A (p.Leu1173Ter) c.*997T>A (n.*997T>A) c.*147T>A (n.*147T>A) c.3356T>A (p.Leu1119Ter) c.2627T>A (p.Leu876Ter) n.4859T>A c.2465T>A (p.Leu822Ter) n.4032T>A n.2716T>A n.2207T>A c.*289T>A (n.*289T>A) c.1046T>A (p.Leu349Ter) c.3512T>A (p.Leu1171Ter) c.278T>A n.4220T>A c.3281T>A (p.Leu1094Ter) c.3275T>A (p.Leu1092Ter) | dbSNP |
16 | g.23603510del | CA915941064 | PALB2 | c.3518del (p.Leu1173CysfsTer20) c.*997del (n.*997del) c.*147del (n.*147del) c.3356del (p.Leu1119CysfsTer20) c.2627del (p.Leu876CysfsTer20) n.4859del c.2465del (p.Leu822CysfsTer20) n.4032del n.2716del n.2207del c.*289del (n.*289del) c.1046del (p.Leu349CysfsTer20) c.3512del (p.Leu1171CysfsTer20) c.278del n.4220del c.3281del (p.Leu1094CysfsTer20) c.3275del (p.Leu1092CysfsTer20) | ClinVar |
16 | g.23603509A>C | CA395137864 | PALB2 | c.3517T>G (p.Leu1173Val) c.*996T>G (n.*996T>G) c.*146T>G (n.*146T>G) c.3355T>G (p.Leu1119Val) c.2626T>G (p.Leu876Val) n.4858T>G c.2464T>G (p.Leu822Val) n.4031T>G n.2715T>G n.2206T>G c.*288T>G (n.*288T>G) c.1045T>G (p.Leu349Val) c.3511T>G (p.Leu1171Val) c.277T>G n.4219T>G c.3280T>G (p.Leu1094Val) c.3274T>G (p.Leu1092Val) | |
16 | g.23603509A>G | CA494173540 | PALB2 | c.3517T>C (p.Leu1173=) c.*996T>C (n.*996T>C) c.*146T>C (n.*146T>C) c.3355T>C (p.Leu1119=) c.2626T>C (p.Leu876=) n.4858T>C c.2464T>C (p.Leu822=) n.4031T>C n.2715T>C n.2206T>C c.*288T>C (n.*288T>C) c.1045T>C (p.Leu349=) c.3511T>C (p.Leu1171=) c.277T>C n.4219T>C c.3280T>C (p.Leu1094=) c.3274T>C (p.Leu1092=) | |
16 | g.23603509A>T | CA395137865 | PALB2 | c.3517T>A (p.Leu1173Met) c.*996T>A (n.*996T>A) c.*146T>A (n.*146T>A) c.3355T>A (p.Leu1119Met) c.2626T>A (p.Leu876Met) n.4858T>A c.2464T>A (p.Leu822Met) n.4031T>A n.2715T>A n.2206T>A c.*288T>A (n.*288T>A) c.1045T>A (p.Leu349Met) c.3511T>A (p.Leu1171Met) c.277T>A n.4219T>A c.3280T>A (p.Leu1094Met) c.3274T>A (p.Leu1092Met) | dbSNP |
16 | g.23603510A= | CA2213424321 | PALB2 | c.3516T= (p.His1172=) c.*995T= (n.*995T=) c.*145T= (n.*145T=) c.3354T= (p.His1118=) c.2625T= (p.His875=) n.4857T= c.2463T= (p.His821=) n.4030T= n.2714T= n.2205T= c.*287T= (n.*287T=) c.1044T= (p.His348=) c.3510T= (p.His1170=) c.276T= n.4218T= c.3279T= (p.His1093=) c.3273T= (p.His1091=) | |
16 | g.23603510A>C | CA395137866 | PALB2 | c.3516T>G (p.His1172Gln) c.*995T>G (n.*995T>G) c.*145T>G (n.*145T>G) c.3354T>G (p.His1118Gln) c.2625T>G (p.His875Gln) n.4857T>G c.2463T>G (p.His821Gln) n.4030T>G n.2714T>G n.2205T>G c.*287T>G (n.*287T>G) c.1044T>G (p.His348Gln) c.3510T>G (p.His1170Gln) c.276T>G n.4218T>G c.3279T>G (p.His1093Gln) c.3273T>G (p.His1091Gln) | |
16 | g.23603510A>G | CA494173541 | PALB2 | c.3516T>C (p.His1172=) c.*995T>C (n.*995T>C) c.*145T>C (n.*145T>C) c.3354T>C (p.His1118=) c.2625T>C (p.His875=) n.4857T>C c.2463T>C (p.His821=) n.4030T>C n.2714T>C n.2205T>C c.*287T>C (n.*287T>C) c.1044T>C (p.His348=) c.3510T>C (p.His1170=) c.276T>C n.4218T>C c.3279T>C (p.His1093=) c.3273T>C (p.His1091=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603510A>T | CA395137867 | PALB2 | c.3516T>A (p.His1172Gln) c.*995T>A (n.*995T>A) c.*145T>A (n.*145T>A) c.3354T>A (p.His1118Gln) c.2625T>A (p.His875Gln) n.4857T>A c.2463T>A (p.His821Gln) n.4030T>A n.2714T>A n.2205T>A c.*287T>A (n.*287T>A) c.1044T>A (p.His348Gln) c.3510T>A (p.His1170Gln) c.276T>A n.4218T>A c.3279T>A (p.His1093Gln) c.3273T>A (p.His1091Gln) | dbSNP |
16 | g.23603511T>A | CA395137868 | PALB2 | c.3515A>T (p.His1172Leu) c.*994A>T (n.*994A>T) c.*144A>T (n.*144A>T) c.3353A>T (p.His1118Leu) c.2624A>T (p.His875Leu) n.4856A>T c.2462A>T (p.His821Leu) n.4029A>T n.2713A>T n.2204A>T c.*286A>T (n.*286A>T) c.1043A>T (p.His348Leu) c.3509A>T (p.His1170Leu) c.275A>T n.4217A>T c.3278A>T (p.His1093Leu) c.3272A>T (p.His1091Leu) | dbSNP |
16 | g.23603511T>C | CA395137869 | PALB2 | c.3515A>G (p.His1172Arg) c.*994A>G (n.*994A>G) c.*144A>G (n.*144A>G) c.3353A>G (p.His1118Arg) c.2624A>G (p.His875Arg) n.4856A>G c.2462A>G (p.His821Arg) n.4029A>G n.2713A>G n.2204A>G c.*286A>G (n.*286A>G) c.1043A>G (p.His348Arg) c.3509A>G (p.His1170Arg) c.275A>G n.4217A>G c.3278A>G (p.His1093Arg) c.3272A>G (p.His1091Arg) | dbSNP |
16 | g.23603511T>G | CA395137870 | PALB2 | c.3515A>C (p.His1172Pro) c.*994A>C (n.*994A>C) c.*144A>C (n.*144A>C) c.3353A>C (p.His1118Pro) c.2624A>C (p.His875Pro) n.4856A>C c.2462A>C (p.His821Pro) n.4029A>C n.2713A>C n.2204A>C c.*286A>C (n.*286A>C) c.1043A>C (p.His348Pro) c.3509A>C (p.His1170Pro) c.275A>C n.4217A>C c.3278A>C (p.His1093Pro) c.3272A>C (p.His1091Pro) | ClinVar dbSNP |
16 | g.23603511_23603513delinsTGA | CA2213424322 | PALB2 | c.3513_3515delinsTCA (p.Ser1171=) c.*992_*994delinsTCA (n.*992_*994delinsTCA) c.*142_*144delinsTCA (n.*142_*144delinsTCA) c.3351_3353delinsTCA (p.Ser1117=) c.2622_2624delinsTCA (p.Ser874=) n.4854_4856delinsTCA c.2460_2462delinsTCA (p.Ser820=) n.4027_4029delinsTCA n.2711_2713delinsTCA n.2202_2204delinsTCA c.*284_*286delinsTCA (n.*284_*286delinsTCA) c.1041_1043delinsTCA (p.Ser347=) c.3507_3509delinsTCA (p.Ser1169=) c.273_275delinsTCA n.4215_4217delinsTCA c.3276_3278delinsTCA (p.Ser1092=) c.3270_3272delinsTCA (p.Ser1090=) | |
16 | g.23603512G>A | CA294118 | PALB2 | c.3514C>T (p.His1172Tyr) c.*993C>T (n.*993C>T) c.*143C>T (n.*143C>T) c.3352C>T (p.His1118Tyr) c.2623C>T (p.His875Tyr) n.4855C>T c.2461C>T (p.His821Tyr) n.4028C>T n.2712C>T n.2203C>T c.*285C>T (n.*285C>T) c.1042C>T (p.His348Tyr) c.3508C>T (p.His1170Tyr) c.274C>T n.4216C>T c.3277C>T (p.His1093Tyr) c.3271C>T (p.His1091Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603512G>C | CA395137873 | PALB2 | c.3514C>G (p.His1172Asp) c.*993C>G (n.*993C>G) c.*143C>G (n.*143C>G) c.3352C>G (p.His1118Asp) c.2623C>G (p.His875Asp) n.4855C>G c.2461C>G (p.His821Asp) n.4028C>G n.2712C>G n.2203C>G c.*285C>G (n.*285C>G) c.1042C>G (p.His348Asp) c.3508C>G (p.His1170Asp) c.274C>G n.4216C>G c.3277C>G (p.His1093Asp) c.3271C>G (p.His1091Asp) | dbSNP |
16 | g.23603512G= | CA2213424324 | PALB2 | c.3514C= (p.His1172=) c.*993C= (n.*993C=) c.*143C= (n.*143C=) c.3352C= (p.His1118=) c.2623C= (p.His875=) n.4855C= c.2461C= (p.His821=) n.4028C= n.2712C= n.2203C= c.*285C= (n.*285C=) c.1042C= (p.His348=) c.3508C= (p.His1170=) c.274C= n.4216C= c.3277C= (p.His1093=) c.3271C= (p.His1091=) | |
16 | g.23603512G>T | CA16614807 | PALB2 | c.3514C>A (p.His1172Asn) c.*993C>A (n.*993C>A) c.*143C>A (n.*143C>A) c.3352C>A (p.His1118Asn) c.2623C>A (p.His875Asn) n.4855C>A c.2461C>A (p.His821Asn) n.4028C>A n.2712C>A n.2203C>A c.*285C>A (n.*285C>A) c.1042C>A (p.His348Asn) c.3508C>A (p.His1170Asn) c.274C>A n.4216C>A c.3277C>A (p.His1093Asn) c.3271C>A (p.His1091Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.23603515_23603516del | CA164092 | PALB2 | c.3513_3514del (p.His1172PhefsTer19) c.*992_*993del (n.*992_*993del) c.*142_*143del (n.*142_*143del) c.3351_3352del (p.His1118PhefsTer19) c.2622_2623del (p.His875PhefsTer19) n.4854_4855del c.2460_2461del (p.His821PhefsTer19) n.4027_4028del n.2711_2712del n.2202_2203del c.*284_*285del (n.*284_*285del) c.1041_1042del (p.His348PhefsTer19) c.3507_3508del (p.His1170PhefsTer19) c.273_274del n.4215_4216del c.3276_3277del (p.His1093PhefsTer19) c.3270_3271del (p.His1091PhefsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603513A= | CA2213424326 | PALB2 | c.3513T= (p.Ser1171=) c.*992T= (n.*992T=) c.*142T= (n.*142T=) c.3351T= (p.Ser1117=) c.2622T= (p.Ser874=) n.4854T= c.2460T= (p.Ser820=) n.4027T= n.2711T= n.2202T= c.*284T= (n.*284T=) c.1041T= (p.Ser347=) c.3507T= (p.Ser1169=) c.273T= n.4215T= c.3276T= (p.Ser1092=) c.3270T= (p.Ser1090=) | |
16 | g.23603513A>C | CA494173544 | PALB2 | c.3513T>G (p.Ser1171=) c.*992T>G (n.*992T>G) c.*142T>G (n.*142T>G) c.3351T>G (p.Ser1117=) c.2622T>G (p.Ser874=) n.4854T>G c.2460T>G (p.Ser820=) n.4027T>G n.2711T>G n.2202T>G c.*284T>G (n.*284T>G) c.1041T>G (p.Ser347=) c.3507T>G (p.Ser1169=) c.273T>G n.4215T>G c.3276T>G (p.Ser1092=) c.3270T>G (p.Ser1090=) | |
16 | g.23603513A>G | CA7963327 | PALB2 | c.3513T>C (p.Ser1171=) c.*992T>C (n.*992T>C) c.*142T>C (n.*142T>C) c.3351T>C (p.Ser1117=) c.2622T>C (p.Ser874=) n.4854T>C c.2460T>C (p.Ser820=) n.4027T>C n.2711T>C n.2202T>C c.*284T>C (n.*284T>C) c.1041T>C (p.Ser347=) c.3507T>C (p.Ser1169=) c.273T>C n.4215T>C c.3276T>C (p.Ser1092=) c.3270T>C (p.Ser1090=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603513A>T | CA494173547 | PALB2 | c.3513T>A (p.Ser1171=) c.*992T>A (n.*992T>A) c.*142T>A (n.*142T>A) c.3351T>A (p.Ser1117=) c.2622T>A (p.Ser874=) n.4854T>A c.2460T>A (p.Ser820=) n.4027T>A n.2711T>A n.2202T>A c.*284T>A (n.*284T>A) c.1041T>A (p.Ser347=) c.3507T>A (p.Ser1169=) c.273T>A n.4215T>A c.3276T>A (p.Ser1092=) c.3270T>A (p.Ser1090=) | dbSNP |
16 | g.23603514G>A | CA395137879 | PALB2 | c.3512C>T (p.Ser1171Phe) c.*991C>T (n.*991C>T) c.*141C>T (n.*141C>T) c.3350C>T (p.Ser1117Phe) c.2621C>T (p.Ser874Phe) n.4853C>T c.2459C>T (p.Ser820Phe) n.4026C>T n.2710C>T n.2201C>T c.*283C>T (n.*283C>T) c.1040C>T (p.Ser347Phe) c.3506C>T (p.Ser1169Phe) c.272C>T n.4214C>T c.3275C>T (p.Ser1092Phe) c.3269C>T (p.Ser1090Phe) | gnomAD v4 |
16 | g.23603514G>C | CA395137878 | PALB2 | c.3512C>G (p.Ser1171Cys) c.*991C>G (n.*991C>G) c.*141C>G (n.*141C>G) c.3350C>G (p.Ser1117Cys) c.2621C>G (p.Ser874Cys) n.4853C>G c.2459C>G (p.Ser820Cys) n.4026C>G n.2710C>G n.2201C>G c.*283C>G (n.*283C>G) c.1040C>G (p.Ser347Cys) c.3506C>G (p.Ser1169Cys) c.272C>G n.4214C>G c.3275C>G (p.Ser1092Cys) c.3269C>G (p.Ser1090Cys) | ClinVar dbSNP gnomAD v4 |
16 | g.23603514G= | CA2213424328 | PALB2 | c.3512C= (p.Ser1171=) c.*991C= (n.*991C=) c.*141C= (n.*141C=) c.3350C= (p.Ser1117=) c.2621C= (p.Ser874=) n.4853C= c.2459C= (p.Ser820=) n.4026C= n.2710C= n.2201C= c.*283C= (n.*283C=) c.1040C= (p.Ser347=) c.3506C= (p.Ser1169=) c.272C= n.4214C= c.3275C= (p.Ser1092=) c.3269C= (p.Ser1090=) | |
16 | g.23603514G>T | CA395137881 | PALB2 | c.3512C>A (p.Ser1171Tyr) c.*991C>A (n.*991C>A) c.*141C>A (n.*141C>A) c.3350C>A (p.Ser1117Tyr) c.2621C>A (p.Ser874Tyr) n.4853C>A c.2459C>A (p.Ser820Tyr) n.4026C>A n.2710C>A n.2201C>A c.*283C>A (n.*283C>A) c.1040C>A (p.Ser347Tyr) c.3506C>A (p.Ser1169Tyr) c.272C>A n.4214C>A c.3275C>A (p.Ser1092Tyr) c.3269C>A (p.Ser1090Tyr) | |
16 | g.23603515A>C | CA395137883 | PALB2 | c.3511T>G (p.Ser1171Ala) c.*990T>G (n.*990T>G) c.*140T>G (n.*140T>G) c.3349T>G (p.Ser1117Ala) c.2620T>G (p.Ser874Ala) n.4852T>G c.2458T>G (p.Ser820Ala) n.4025T>G n.2709T>G n.2200T>G c.*282T>G (n.*282T>G) c.1039T>G (p.Ser347Ala) c.3505T>G (p.Ser1169Ala) c.271T>G n.4213T>G c.3274T>G (p.Ser1092Ala) c.3268T>G (p.Ser1090Ala) | |
16 | g.23603515A>G | CA395137886 | PALB2 | c.3511T>C (p.Ser1171Pro) c.*990T>C (n.*990T>C) c.*140T>C (n.*140T>C) c.3349T>C (p.Ser1117Pro) c.2620T>C (p.Ser874Pro) n.4852T>C c.2458T>C (p.Ser820Pro) n.4025T>C n.2709T>C n.2200T>C c.*282T>C (n.*282T>C) c.1039T>C (p.Ser347Pro) c.3505T>C (p.Ser1169Pro) c.271T>C n.4213T>C c.3274T>C (p.Ser1092Pro) c.3268T>C (p.Ser1090Pro) | |
16 | g.23603515A>T | CA395137885 | PALB2 | c.3511T>A (p.Ser1171Thr) c.*990T>A (n.*990T>A) c.*140T>A (n.*140T>A) c.3349T>A (p.Ser1117Thr) c.2620T>A (p.Ser874Thr) n.4852T>A c.2458T>A (p.Ser820Thr) n.4025T>A n.2709T>A n.2200T>A c.*282T>A (n.*282T>A) c.1039T>A (p.Ser347Thr) c.3505T>A (p.Ser1169Thr) c.271T>A n.4213T>A c.3274T>A (p.Ser1092Thr) c.3268T>A (p.Ser1090Thr) | ClinVar dbSNP |
16 | g.23603516G>A | CA494173549 | PALB2 | c.3510C>T (p.Asp1170=) c.*989C>T (n.*989C>T) c.*139C>T (n.*139C>T) c.3348C>T (p.Asp1116=) c.2619C>T (p.Asp873=) n.4851C>T c.2457C>T (p.Asp819=) n.4024C>T n.2708C>T n.2199C>T c.*281C>T (n.*281C>T) c.1038C>T (p.Asp346=) c.3504C>T (p.Asp1168=) c.270C>T n.4212C>T c.3273C>T (p.Asp1091=) c.3267C>T (p.Asp1089=) | ClinVar dbSNP |
16 | g.23603516G>C | CA395137887 | PALB2 | c.3510C>G (p.Asp1170Glu) c.*989C>G (n.*989C>G) c.*139C>G (n.*139C>G) c.3348C>G (p.Asp1116Glu) c.2619C>G (p.Asp873Glu) n.4851C>G c.2457C>G (p.Asp819Glu) n.4024C>G n.2708C>G n.2199C>G c.*281C>G (n.*281C>G) c.1038C>G (p.Asp346Glu) c.3504C>G (p.Asp1168Glu) c.270C>G n.4212C>G c.3273C>G (p.Asp1091Glu) c.3267C>G (p.Asp1089Glu) | ClinVar dbSNP |
16 | g.23603516G= | CA2213424329 | PALB2 | c.3510C= (p.Asp1170=) c.*989C= (n.*989C=) c.*139C= (n.*139C=) c.3348C= (p.Asp1116=) c.2619C= (p.Asp873=) n.4851C= c.2457C= (p.Asp819=) n.4024C= n.2708C= n.2199C= c.*281C= (n.*281C=) c.1038C= (p.Asp346=) c.3504C= (p.Asp1168=) c.270C= n.4212C= c.3273C= (p.Asp1091=) c.3267C= (p.Asp1089=) | |
16 | g.23603516G>T | CA395137888 | PALB2 | c.3510C>A (p.Asp1170Glu) c.*989C>A (n.*989C>A) c.*139C>A (n.*139C>A) c.3348C>A (p.Asp1116Glu) c.2619C>A (p.Asp873Glu) n.4851C>A c.2457C>A (p.Asp819Glu) n.4024C>A n.2708C>A n.2199C>A c.*281C>A (n.*281C>A) c.1038C>A (p.Asp346Glu) c.3504C>A (p.Asp1168Glu) c.270C>A n.4212C>A c.3273C>A (p.Asp1091Glu) c.3267C>A (p.Asp1089Glu) | ClinVar |
16 | g.23603518_23603521del | CA2573152144 | PALB2 | c.3507_3510del (p.Asp1170LeufsTer22) c.*986_*989del (n.*986_*989del) c.*136_*139del (n.*136_*139del) c.3345_3348del (p.Asp1116LeufsTer22) c.2616_2619del (p.Asp873LeufsTer22) n.4848_4851del c.2454_2457del (p.Asp819LeufsTer22) n.4021_4024del n.2705_2708del n.2196_2199del c.*278_*281del (n.*278_*281del) c.1035_1038del (p.Asp346LeufsTer22) c.3501_3504del (p.Asp1168LeufsTer22) c.267_270del n.4209_4212del c.3270_3273del (p.Asp1091LeufsTer22) c.3264_3267del (p.Asp1089LeufsTer22) | ClinVar dbSNP |
16 | g.23603517T>A | CA395137890 | PALB2 | c.3509A>T (p.Asp1170Val) c.*988A>T (n.*988A>T) c.*138A>T (n.*138A>T) c.3347A>T (p.Asp1116Val) c.2618A>T (p.Asp873Val) n.4850A>T c.2456A>T (p.Asp819Val) n.4023A>T n.2707A>T n.2198A>T c.*280A>T (n.*280A>T) c.1037A>T (p.Asp346Val) c.3503A>T (p.Asp1168Val) c.269A>T n.4211A>T c.3272A>T (p.Asp1091Val) c.3266A>T (p.Asp1089Val) | dbSNP |
16 | g.23603517T>C | CA395137891 | PALB2 | c.3509A>G (p.Asp1170Gly) c.*988A>G (n.*988A>G) c.*138A>G (n.*138A>G) c.3347A>G (p.Asp1116Gly) c.2618A>G (p.Asp873Gly) n.4850A>G c.2456A>G (p.Asp819Gly) n.4023A>G n.2707A>G n.2198A>G c.*280A>G (n.*280A>G) c.1037A>G (p.Asp346Gly) c.3503A>G (p.Asp1168Gly) c.269A>G n.4211A>G c.3272A>G (p.Asp1091Gly) c.3266A>G (p.Asp1089Gly) | COSMIC |
16 | g.23603517T>G | CA395137893 | PALB2 | c.3509A>C (p.Asp1170Ala) c.*988A>C (n.*988A>C) c.*138A>C (n.*138A>C) c.3347A>C (p.Asp1116Ala) c.2618A>C (p.Asp873Ala) n.4850A>C c.2456A>C (p.Asp819Ala) n.4023A>C n.2707A>C n.2198A>C c.*280A>C (n.*280A>C) c.1037A>C (p.Asp346Ala) c.3503A>C (p.Asp1168Ala) c.269A>C n.4211A>C c.3272A>C (p.Asp1091Ala) c.3266A>C (p.Asp1089Ala) | |
16 | g.23603518C>A | CA395137895 | PALB2 | c.3508G>T (p.Asp1170Tyr) c.*987G>T (n.*987G>T) c.*137G>T (n.*137G>T) c.3346G>T (p.Asp1116Tyr) c.2617G>T (p.Asp873Tyr) n.4849G>T c.2455G>T (p.Asp819Tyr) n.4022G>T n.2706G>T n.2197G>T c.*279G>T (n.*279G>T) c.1036G>T (p.Asp346Tyr) c.3502G>T (p.Asp1168Tyr) c.268G>T n.4210G>T c.3271G>T (p.Asp1091Tyr) c.3265G>T (p.Asp1089Tyr) | dbSNP |
16 | g.23603518C>G | CA395137896 | PALB2 | c.3508G>C (p.Asp1170His) c.*987G>C (n.*987G>C) c.*137G>C (n.*137G>C) c.3346G>C (p.Asp1116His) c.2617G>C (p.Asp873His) n.4849G>C c.2455G>C (p.Asp819His) n.4022G>C n.2706G>C n.2197G>C c.*279G>C (n.*279G>C) c.1036G>C (p.Asp346His) c.3502G>C (p.Asp1168His) c.268G>C n.4210G>C c.3271G>C (p.Asp1091His) c.3265G>C (p.Asp1089His) | dbSNP |
16 | g.23603518C>T | CA395137897 | PALB2 | c.3508G>A (p.Asp1170Asn) c.*987G>A (n.*987G>A) c.*137G>A (n.*137G>A) c.3346G>A (p.Asp1116Asn) c.2617G>A (p.Asp873Asn) n.4849G>A c.2455G>A (p.Asp819Asn) n.4022G>A n.2706G>A n.2197G>A c.*279G>A (n.*279G>A) c.1036G>A (p.Asp346Asn) c.3502G>A (p.Asp1168Asn) c.268G>A n.4210G>A c.3271G>A (p.Asp1091Asn) c.3265G>A (p.Asp1089Asn) | dbSNP |
16 | g.23603519_23603523del | CA2573152145 | PALB2 | c.3504_3508del (p.Thr1169LeufsTer21) c.*983_*987del (n.*983_*987del) c.*133_*137del (n.*133_*137del) c.3342_3346del (p.Thr1115LeufsTer21) c.2613_2617del (p.Thr872LeufsTer21) n.4845_4849del c.2451_2455del (p.Thr818LeufsTer21) n.4018_4022del n.2702_2706del n.2193_2197del c.*275_*279del (n.*275_*279del) c.1032_1036del (p.Thr345LeufsTer21) c.3498_3502del (p.Thr1167LeufsTer21) c.264_268del n.4206_4210del c.3267_3271del (p.Thr1090LeufsTer21) c.3261_3265del (p.Thr1088LeufsTer21) | ClinVar dbSNP |
16 | g.23603519T>A | CA494173552 | PALB2 | c.3507A>T (p.Thr1169=) c.*986A>T (n.*986A>T) c.*136A>T (n.*136A>T) c.3345A>T (p.Thr1115=) c.2616A>T (p.Thr872=) n.4848A>T c.2454A>T (p.Thr818=) n.4021A>T n.2705A>T n.2196A>T c.*278A>T (n.*278A>T) c.1035A>T (p.Thr345=) c.3501A>T (p.Thr1167=) c.267A>T n.4209A>T c.3270A>T (p.Thr1090=) c.3264A>T (p.Thr1088=) | |
16 | g.23603519T>C | CA494173553 | PALB2 | c.3507A>G (p.Thr1169=) c.*986A>G (n.*986A>G) c.*136A>G (n.*136A>G) c.3345A>G (p.Thr1115=) c.2616A>G (p.Thr872=) n.4848A>G c.2454A>G (p.Thr818=) n.4021A>G n.2705A>G n.2196A>G c.*278A>G (n.*278A>G) c.1035A>G (p.Thr345=) c.3501A>G (p.Thr1167=) c.267A>G n.4209A>G c.3270A>G (p.Thr1090=) c.3264A>G (p.Thr1088=) | ClinVar |
16 | g.23603519T>G | CA494173554 | PALB2 | c.3507A>C (p.Thr1169=) c.*986A>C (n.*986A>C) c.*136A>C (n.*136A>C) c.3345A>C (p.Thr1115=) c.2616A>C (p.Thr872=) n.4848A>C c.2454A>C (p.Thr818=) n.4021A>C n.2705A>C n.2196A>C c.*278A>C (n.*278A>C) c.1035A>C (p.Thr345=) c.3501A>C (p.Thr1167=) c.267A>C n.4209A>C c.3270A>C (p.Thr1090=) c.3264A>C (p.Thr1088=) | |
16 | g.23603520G>A | CA395137900 | PALB2 | c.3506C>T (p.Thr1169Ile) c.*985C>T (n.*985C>T) c.*135C>T (n.*135C>T) c.3344C>T (p.Thr1115Ile) c.2615C>T (p.Thr872Ile) n.4847C>T c.2453C>T (p.Thr818Ile) n.4020C>T n.2704C>T n.2195C>T c.*277C>T (n.*277C>T) c.1034C>T (p.Thr345Ile) c.3500C>T (p.Thr1167Ile) c.266C>T n.4208C>T c.3269C>T (p.Thr1090Ile) c.3263C>T (p.Thr1088Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603520G>C | CA395137901 | PALB2 | c.3506C>G (p.Thr1169Arg) c.*985C>G (n.*985C>G) c.*135C>G (n.*135C>G) c.3344C>G (p.Thr1115Arg) c.2615C>G (p.Thr872Arg) n.4847C>G c.2453C>G (p.Thr818Arg) n.4020C>G n.2704C>G n.2195C>G c.*277C>G (n.*277C>G) c.1034C>G (p.Thr345Arg) c.3500C>G (p.Thr1167Arg) c.266C>G n.4208C>G c.3269C>G (p.Thr1090Arg) c.3263C>G (p.Thr1088Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603520G= | CA2213424332 | PALB2 | c.3506C= (p.Thr1169=) c.*985C= (n.*985C=) c.*135C= (n.*135C=) c.3344C= (p.Thr1115=) c.2615C= (p.Thr872=) n.4847C= c.2453C= (p.Thr818=) n.4020C= n.2704C= n.2195C= c.*277C= (n.*277C=) c.1034C= (p.Thr345=) c.3500C= (p.Thr1167=) c.266C= n.4208C= c.3269C= (p.Thr1090=) c.3263C= (p.Thr1088=) | |
16 | g.23603520G>T | CA395137902 | PALB2 | c.3506C>A (p.Thr1169Lys) c.*985C>A (n.*985C>A) c.*135C>A (n.*135C>A) c.3344C>A (p.Thr1115Lys) c.2615C>A (p.Thr872Lys) n.4847C>A c.2453C>A (p.Thr818Lys) n.4020C>A n.2704C>A n.2195C>A c.*277C>A (n.*277C>A) c.1034C>A (p.Thr345Lys) c.3500C>A (p.Thr1167Lys) c.266C>A n.4208C>A c.3269C>A (p.Thr1090Lys) c.3263C>A (p.Thr1088Lys) | |
16 | g.23603521T>A | CA395137905 | PALB2 | c.3505A>T (p.Thr1169Ser) c.*984A>T (n.*984A>T) c.*134A>T (n.*134A>T) c.3343A>T (p.Thr1115Ser) c.2614A>T (p.Thr872Ser) n.4846A>T c.2452A>T (p.Thr818Ser) n.4019A>T n.2703A>T n.2194A>T c.*276A>T (n.*276A>T) c.1033A>T (p.Thr345Ser) c.3499A>T (p.Thr1167Ser) c.265A>T n.4207A>T c.3268A>T (p.Thr1090Ser) c.3262A>T (p.Thr1088Ser) | dbSNP |
16 | g.23603521T>C | CA395137906 | PALB2 | c.3505A>G (p.Thr1169Ala) c.*984A>G (n.*984A>G) c.*134A>G (n.*134A>G) c.3343A>G (p.Thr1115Ala) c.2614A>G (p.Thr872Ala) n.4846A>G c.2452A>G (p.Thr818Ala) n.4019A>G n.2703A>G n.2194A>G c.*276A>G (n.*276A>G) c.1033A>G (p.Thr345Ala) c.3499A>G (p.Thr1167Ala) c.265A>G n.4207A>G c.3268A>G (p.Thr1090Ala) c.3262A>G (p.Thr1088Ala) | ClinVar dbSNP gnomAD v4 |
16 | g.23603521T>G | CA395137907 | PALB2 | c.3505A>C (p.Thr1169Pro) c.*984A>C (n.*984A>C) c.*134A>C (n.*134A>C) c.3343A>C (p.Thr1115Pro) c.2614A>C (p.Thr872Pro) n.4846A>C c.2452A>C (p.Thr818Pro) n.4019A>C n.2703A>C n.2194A>C c.*276A>C (n.*276A>C) c.1033A>C (p.Thr345Pro) c.3499A>C (p.Thr1167Pro) c.265A>C n.4207A>C c.3268A>C (p.Thr1090Pro) c.3262A>C (p.Thr1088Pro) | ClinVar dbSNP |
16 | g.23603521T= | CA2213424336 | PALB2 | c.3505A= (p.Thr1169=) c.*984A= (n.*984A=) c.*134A= (n.*134A=) c.3343A= (p.Thr1115=) c.2614A= (p.Thr872=) n.4846A= c.2452A= (p.Thr818=) n.4019A= n.2703A= n.2194A= c.*276A= (n.*276A=) c.1033A= (p.Thr345=) c.3499A= (p.Thr1167=) c.265A= n.4207A= c.3268A= (p.Thr1090=) c.3262A= (p.Thr1088=) | |
16 | g.23603521_23603523delinsTAC | CA2213424335 | PALB2 | c.3503_3505delinsGTA (p.Gly1168=) c.*982_*984delinsGTA (n.*982_*984delinsGTA) c.*132_*134delinsGTA (n.*132_*134delinsGTA) c.3341_3343delinsGTA (p.Gly1114=) c.2612_2614delinsGTA (p.Gly871=) n.4844_4846delinsGTA c.2450_2452delinsGTA (p.Gly817=) n.4017_4019delinsGTA n.2701_2703delinsGTA n.2192_2194delinsGTA c.*274_*276delinsGTA (n.*274_*276delinsGTA) c.1031_1033delinsGTA (p.Gly344=) c.3497_3499delinsGTA (p.Gly1166=) c.263_265delinsGTA n.4205_4207delinsGTA c.3266_3268delinsGTA (p.Gly1089=) c.3260_3262delinsGTA (p.Gly1087=) | |
16 | g.23603522A>C | CA494173556 | PALB2 | c.3504T>G (p.Gly1168=) c.*983T>G (n.*983T>G) c.*133T>G (n.*133T>G) c.3342T>G (p.Gly1114=) c.2613T>G (p.Gly871=) n.4845T>G c.2451T>G (p.Gly817=) n.4018T>G n.2702T>G n.2193T>G c.*275T>G (n.*275T>G) c.1032T>G (p.Gly344=) c.3498T>G (p.Gly1166=) c.264T>G n.4206T>G c.3267T>G (p.Gly1089=) c.3261T>G (p.Gly1087=) | |
16 | g.23603522A>G | CA494173558 | PALB2 | c.3504T>C (p.Gly1168=) c.*983T>C (n.*983T>C) c.*133T>C (n.*133T>C) c.3342T>C (p.Gly1114=) c.2613T>C (p.Gly871=) n.4845T>C c.2451T>C (p.Gly817=) n.4018T>C n.2702T>C n.2193T>C c.*275T>C (n.*275T>C) c.1032T>C (p.Gly344=) c.3498T>C (p.Gly1166=) c.264T>C n.4206T>C c.3267T>C (p.Gly1089=) c.3261T>C (p.Gly1087=) | COSMIC |
16 | g.23603522A>T | CA494173559 | PALB2 | c.3504T>A (p.Gly1168=) c.*983T>A (n.*983T>A) c.*133T>A (n.*133T>A) c.3342T>A (p.Gly1114=) c.2613T>A (p.Gly871=) n.4845T>A c.2451T>A (p.Gly817=) n.4018T>A n.2702T>A n.2193T>A c.*275T>A (n.*275T>A) c.1032T>A (p.Gly344=) c.3498T>A (p.Gly1166=) c.264T>A n.4206T>A c.3267T>A (p.Gly1089=) c.3261T>A (p.Gly1087=) | ClinVar dbSNP |
16 | g.23603522_23603523del | CA294564 | PALB2 | c.3503_3504del (p.Gly1168AspfsTer23) c.*982_*983del (n.*982_*983del) c.*132_*133del (n.*132_*133del) c.3341_3342del (p.Gly1114AspfsTer23) c.2612_2613del (p.Gly871AspfsTer23) n.4844_4845del c.2450_2451del (p.Gly817AspfsTer23) n.4017_4018del n.2701_2702del n.2192_2193del c.*274_*275del (n.*274_*275del) c.1031_1032del (p.Gly344AspfsTer23) c.3497_3498del (p.Gly1166AspfsTer23) c.263_264del n.4205_4206del c.3266_3267del (p.Gly1089AspfsTer23) c.3260_3261del (p.Gly1087AspfsTer23) | ClinVar dbSNP |
16 | g.23603522_23603523delinsAC | CA2213424338 | PALB2 | c.3503_3504delinsGT (p.Gly1168=) c.*982_*983delinsGT (n.*982_*983delinsGT) c.*132_*133delinsGT (n.*132_*133delinsGT) c.3341_3342delinsGT (p.Gly1114=) c.2612_2613delinsGT (p.Gly871=) n.4844_4845delinsGT c.2450_2451delinsGT (p.Gly817=) n.4017_4018delinsGT n.2701_2702delinsGT n.2192_2193delinsGT c.*274_*275delinsGT (n.*274_*275delinsGT) c.1031_1032delinsGT (p.Gly344=) c.3497_3498delinsGT (p.Gly1166=) c.263_264delinsGT n.4205_4206delinsGT c.3266_3267delinsGT (p.Gly1089=) c.3260_3261delinsGT (p.Gly1087=) | |
16 | g.23603523C>A | CA395137910 | PALB2 | c.3503G>T (p.Gly1168Val) c.*982G>T (n.*982G>T) c.*132G>T (n.*132G>T) c.3341G>T (p.Gly1114Val) c.2612G>T (p.Gly871Val) n.4844G>T c.2450G>T (p.Gly817Val) n.4017G>T n.2701G>T n.2192G>T c.*274G>T (n.*274G>T) c.1031G>T (p.Gly344Val) c.3497G>T (p.Gly1166Val) c.263G>T n.4205G>T c.3266G>T (p.Gly1089Val) c.3260G>T (p.Gly1087Val) | dbSNP |
16 | g.23603523C>G | CA395137912 | PALB2 | c.3503G>C (p.Gly1168Ala) c.*982G>C (n.*982G>C) c.*132G>C (n.*132G>C) c.3341G>C (p.Gly1114Ala) c.2612G>C (p.Gly871Ala) n.4844G>C c.2450G>C (p.Gly817Ala) n.4017G>C n.2701G>C n.2192G>C c.*274G>C (n.*274G>C) c.1031G>C (p.Gly344Ala) c.3497G>C (p.Gly1166Ala) c.263G>C n.4205G>C c.3266G>C (p.Gly1089Ala) c.3260G>C (p.Gly1087Ala) | dbSNP |
16 | g.23603523C>T | CA395137913 | PALB2 | c.3503G>A (p.Gly1168Asp) c.*982G>A (n.*982G>A) c.*132G>A (n.*132G>A) c.3341G>A (p.Gly1114Asp) c.2612G>A (p.Gly871Asp) n.4844G>A c.2450G>A (p.Gly817Asp) n.4017G>A n.2701G>A n.2192G>A c.*274G>A (n.*274G>A) c.1031G>A (p.Gly344Asp) c.3497G>A (p.Gly1166Asp) c.263G>A n.4205G>A c.3266G>A (p.Gly1089Asp) c.3260G>A (p.Gly1087Asp) | ClinVar dbSNP |
16 | g.23603525del | CA151249 | PALB2 | c.3503del (p.Gly1168ValfsTer25) c.*982del (n.*982del) c.*132del (n.*132del) c.3341del (p.Gly1114ValfsTer25) c.2612del (p.Gly871ValfsTer25) n.4844del c.2450del (p.Gly817ValfsTer25) n.4017del n.2701del n.2192del c.*274del (n.*274del) c.1031del (p.Gly344ValfsTer25) c.3497del (p.Gly1166ValfsTer25) c.263del n.4205del c.3266del (p.Gly1089ValfsTer25) c.3260del (p.Gly1087ValfsTer25) | ClinVar dbSNP |
16 | g.23603524C>A | CA395137914 | PALB2 | c.3502G>T (p.Gly1168Cys) c.*981G>T (n.*981G>T) c.*131G>T (n.*131G>T) c.3340G>T (p.Gly1114Cys) c.2611G>T (p.Gly871Cys) n.4843G>T c.2449G>T (p.Gly817Cys) n.4016G>T n.2700G>T n.2191G>T c.*273G>T (n.*273G>T) c.1030G>T (p.Gly344Cys) c.3496G>T (p.Gly1166Cys) c.262G>T n.4204G>T c.3265G>T (p.Gly1089Cys) c.3259G>T (p.Gly1087Cys) | ClinVar dbSNP |
16 | g.23603524C= | CA2213424341 | PALB2 | c.3502G= (p.Gly1168=) c.*981G= (n.*981G=) c.*131G= (n.*131G=) c.3340G= (p.Gly1114=) c.2611G= (p.Gly871=) n.4843G= c.2449G= (p.Gly817=) n.4016G= n.2700G= n.2191G= c.*273G= (n.*273G=) c.1030G= (p.Gly344=) c.3496G= (p.Gly1166=) c.262G= n.4204G= c.3265G= (p.Gly1089=) c.3259G= (p.Gly1087=) | |
16 | g.23603524C>G | CA395137916 | PALB2 | c.3502G>C (p.Gly1168Arg) c.*981G>C (n.*981G>C) c.*131G>C (n.*131G>C) c.3340G>C (p.Gly1114Arg) c.2611G>C (p.Gly871Arg) n.4843G>C c.2449G>C (p.Gly817Arg) n.4016G>C n.2700G>C n.2191G>C c.*273G>C (n.*273G>C) c.1030G>C (p.Gly344Arg) c.3496G>C (p.Gly1166Arg) c.262G>C n.4204G>C c.3265G>C (p.Gly1089Arg) c.3259G>C (p.Gly1087Arg) | dbSNP |
16 | g.23603524C>T | CA395137918 | PALB2 | c.3502G>A (p.Gly1168Ser) c.*981G>A (n.*981G>A) c.*131G>A (n.*131G>A) c.3340G>A (p.Gly1114Ser) c.2611G>A (p.Gly871Ser) n.4843G>A c.2449G>A (p.Gly817Ser) n.4016G>A n.2700G>A n.2191G>A c.*273G>A (n.*273G>A) c.1030G>A (p.Gly344Ser) c.3496G>A (p.Gly1166Ser) c.262G>A n.4204G>A c.3265G>A (p.Gly1089Ser) c.3259G>A (p.Gly1087Ser) | ClinVar dbSNP |
16 | g.23603525C>A | CA494173561 | PALB2 | c.3501G>T (p.Ser1167=) c.*980G>T (n.*980G>T) c.*130G>T (n.*130G>T) c.3339G>T (p.Ser1113=) c.2610G>T (p.Ser870=) n.4842G>T c.2448G>T (p.Ser816=) n.4015G>T n.2699G>T n.2190G>T c.*272G>T (n.*272G>T) c.1029G>T (p.Ser343=) c.3495G>T (p.Ser1165=) c.261G>T n.4203G>T c.3264G>T (p.Ser1088=) c.3258G>T (p.Ser1086=) | |
16 | g.23603525C= | CA2213424344 | PALB2 | c.3501G= (p.Ser1167=) c.*980G= (n.*980G=) c.*130G= (n.*130G=) c.3339G= (p.Ser1113=) c.2610G= (p.Ser870=) n.4842G= c.2448G= (p.Ser816=) n.4015G= n.2699G= n.2190G= c.*272G= (n.*272G=) c.1029G= (p.Ser343=) c.3495G= (p.Ser1165=) c.261G= n.4203G= c.3264G= (p.Ser1088=) c.3258G= (p.Ser1086=) | |
16 | g.23603525C>G | CA494173562 | PALB2 | c.3501G>C (p.Ser1167=) c.*980G>C (n.*980G>C) c.*130G>C (n.*130G>C) c.3339G>C (p.Ser1113=) c.2610G>C (p.Ser870=) n.4842G>C c.2448G>C (p.Ser816=) n.4015G>C n.2699G>C n.2190G>C c.*272G>C (n.*272G>C) c.1029G>C (p.Ser343=) c.3495G>C (p.Ser1165=) c.261G>C n.4203G>C c.3264G>C (p.Ser1088=) c.3258G>C (p.Ser1086=) | ClinVar dbSNP gnomAD v4 |
16 | g.23603525C>T | CA292653 | PALB2 | c.3501G>A (p.Ser1167=) c.*980G>A (n.*980G>A) c.*130G>A (n.*130G>A) c.3339G>A (p.Ser1113=) c.2610G>A (p.Ser870=) n.4842G>A c.2448G>A (p.Ser816=) n.4015G>A n.2699G>A n.2190G>A c.*272G>A (n.*272G>A) c.1029G>A (p.Ser343=) c.3495G>A (p.Ser1165=) c.261G>A n.4203G>A c.3264G>A (p.Ser1088=) c.3258G>A (p.Ser1086=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603526_23603528dup | CA2825002423 | PALB2 | c.3499_3501dup (p.Ser1167_Gly1168insSer) c.*978_*980dup (n.*978_*980dup) c.*128_*130dup (n.*128_*130dup) c.3337_3339dup (p.Ser1113_Gly1114insSer) c.2608_2610dup (p.Ser870_Gly871insSer) n.4840_4842dup c.2446_2448dup (p.Ser816_Gly817insSer) n.4013_4015dup n.2697_2699dup n.2188_2190dup c.*270_*272dup (n.*270_*272dup) c.1027_1029dup (p.Ser343_Gly344insSer) c.3493_3495dup (p.Ser1165_Gly1166insSer) c.259_261dup n.4201_4203dup c.3262_3264dup (p.Ser1088_Gly1089insSer) c.3256_3258dup (p.Ser1086_Gly1087insSer) | ClinVar |
16 | g.23603526G>A | CA7963328 | PALB2 | c.3500C>T (p.Ser1167Leu) c.*979C>T (n.*979C>T) c.*129C>T (n.*129C>T) c.3338C>T (p.Ser1113Leu) c.2609C>T (p.Ser870Leu) n.4841C>T c.2447C>T (p.Ser816Leu) n.4014C>T n.2698C>T n.2189C>T c.*271C>T (n.*271C>T) c.1028C>T (p.Ser343Leu) c.3494C>T (p.Ser1165Leu) c.260C>T n.4202C>T c.3263C>T (p.Ser1088Leu) c.3257C>T (p.Ser1086Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.23603526G>C | CA395137921 | PALB2 | c.3500C>G (p.Ser1167Trp) c.*979C>G (n.*979C>G) c.*129C>G (n.*129C>G) c.3338C>G (p.Ser1113Trp) c.2609C>G (p.Ser870Trp) n.4841C>G c.2447C>G (p.Ser816Trp) n.4014C>G n.2698C>G n.2189C>G c.*271C>G (n.*271C>G) c.1028C>G (p.Ser343Trp) c.3494C>G (p.Ser1165Trp) c.260C>G n.4202C>G c.3263C>G (p.Ser1088Trp) c.3257C>G (p.Ser1086Trp) | ClinVar dbSNP |
16 | g.23603526G= | CA2213424346 | PALB2 | c.3500C= (p.Ser1167=) c.*979C= (n.*979C=) c.*129C= (n.*129C=) c.3338C= (p.Ser1113=) c.2609C= (p.Ser870=) n.4841C= c.2447C= (p.Ser816=) n.4014C= n.2698C= n.2189C= c.*271C= (n.*271C=) c.1028C= (p.Ser343=) c.3494C= (p.Ser1165=) c.260C= n.4202C= c.3263C= (p.Ser1088=) c.3257C= (p.Ser1086=) | |
16 | g.23603526G>T | CA395137923 | PALB2 | c.3500C>A (p.Ser1167Ter) c.*979C>A (n.*979C>A) c.*129C>A (n.*129C>A) c.3338C>A (p.Ser1113Ter) c.2609C>A (p.Ser870Ter) n.4841C>A c.2447C>A (p.Ser816Ter) n.4014C>A n.2698C>A n.2189C>A c.*271C>A (n.*271C>A) c.1028C>A (p.Ser343Ter) c.3494C>A (p.Ser1165Ter) c.260C>A n.4202C>A c.3263C>A (p.Ser1088Ter) c.3257C>A (p.Ser1086Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.23603526dup | CA2499223398 | PALB2 | c.3500dup (p.Thr1169TyrfsTer23) c.*979dup (n.*979dup) c.*129dup (n.*129dup) c.3338dup (p.Thr1115TyrfsTer23) c.2609dup (p.Thr872TyrfsTer23) n.4841dup c.2447dup (p.Thr818TyrfsTer23) n.4014dup n.2698dup n.2189dup c.*271dup (n.*271dup) c.1028dup (p.Thr345TyrfsTer23) c.3494dup (p.Thr1167TyrfsTer23) c.260dup n.4202dup c.3263dup (p.Thr1090TyrfsTer23) c.3257dup (p.Thr1088TyrfsTer23) | ClinVar dbSNP |
16 | g.23603527A= | CA2213424348 | PALB2 | c.3499T= (p.Ser1167=) c.*978T= (n.*978T=) c.*128T= (n.*128T=) c.3337T= (p.Ser1113=) c.2608T= (p.Ser870=) n.4840T= c.2446T= (p.Ser816=) n.4013T= n.2697T= n.2188T= c.*270T= (n.*270T=) c.1027T= (p.Ser343=) c.3493T= (p.Ser1165=) c.259T= n.4201T= c.3262T= (p.Ser1088=) c.3256T= (p.Ser1086=) | |
16 | g.23603527A>C | CA395137926 | PALB2 | c.3499T>G (p.Ser1167Ala) c.*978T>G (n.*978T>G) c.*128T>G (n.*128T>G) c.3337T>G (p.Ser1113Ala) c.2608T>G (p.Ser870Ala) n.4840T>G c.2446T>G (p.Ser816Ala) n.4013T>G n.2697T>G n.2188T>G c.*270T>G (n.*270T>G) c.1027T>G (p.Ser343Ala) c.3493T>G (p.Ser1165Ala) c.259T>G n.4201T>G c.3262T>G (p.Ser1088Ala) c.3256T>G (p.Ser1086Ala) | dbSNP |
16 | g.23603527A>G | CA7963329 | PALB2 | c.3499T>C (p.Ser1167Pro) c.*978T>C (n.*978T>C) c.*128T>C (n.*128T>C) c.3337T>C (p.Ser1113Pro) c.2608T>C (p.Ser870Pro) n.4840T>C c.2446T>C (p.Ser816Pro) n.4013T>C n.2697T>C n.2188T>C c.*270T>C (n.*270T>C) c.1027T>C (p.Ser343Pro) c.3493T>C (p.Ser1165Pro) c.259T>C n.4201T>C c.3262T>C (p.Ser1088Pro) c.3256T>C (p.Ser1086Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603527A>T | CA395137924 | PALB2 | c.3499T>A (p.Ser1167Thr) c.*978T>A (n.*978T>A) c.*128T>A (n.*128T>A) c.3337T>A (p.Ser1113Thr) c.2608T>A (p.Ser870Thr) n.4840T>A c.2446T>A (p.Ser816Thr) n.4013T>A n.2697T>A n.2188T>A c.*270T>A (n.*270T>A) c.1027T>A (p.Ser343Thr) c.3493T>A (p.Ser1165Thr) c.259T>A n.4201T>A c.3262T>A (p.Ser1088Thr) c.3256T>A (p.Ser1086Thr) | dbSNP |
16 | g.23603528C>A | CA167348 | PALB2 | c.3498G>T (p.Trp1166Cys) c.*977G>T (n.*977G>T) c.*127G>T (n.*127G>T) c.3336G>T (p.Trp1112Cys) c.2607G>T (p.Trp869Cys) n.4839G>T c.2445G>T (p.Trp815Cys) n.4012G>T n.2696G>T n.2187G>T c.*269G>T (n.*269G>T) c.1026G>T (p.Trp342Cys) c.3492G>T (p.Trp1164Cys) c.258G>T n.4200G>T c.3261G>T (p.Trp1087Cys) c.3255G>T (p.Trp1085Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603528C= | CA2213424351 | PALB2 | c.3498G= (p.Trp1166=) c.*977G= (n.*977G=) c.*127G= (n.*127G=) c.3336G= (p.Trp1112=) c.2607G= (p.Trp869=) n.4839G= c.2445G= (p.Trp815=) n.4012G= n.2696G= n.2187G= c.*269G= (n.*269G=) c.1026G= (p.Trp342=) c.3492G= (p.Trp1164=) c.258G= n.4200G= c.3261G= (p.Trp1087=) c.3255G= (p.Trp1085=) | |
16 | g.23603528C>G | CA395137929 | PALB2 | c.3498G>C (p.Trp1166Cys) c.*977G>C (n.*977G>C) c.*127G>C (n.*127G>C) c.3336G>C (p.Trp1112Cys) c.2607G>C (p.Trp869Cys) n.4839G>C c.2445G>C (p.Trp815Cys) n.4012G>C n.2696G>C n.2187G>C c.*269G>C (n.*269G>C) c.1026G>C (p.Trp342Cys) c.3492G>C (p.Trp1164Cys) c.258G>C n.4200G>C c.3261G>C (p.Trp1087Cys) c.3255G>C (p.Trp1085Cys) | dbSNP |
16 | g.23603528C>T | CA10584499 | PALB2 | c.3498G>A (p.Trp1166Ter) c.*977G>A (n.*977G>A) c.*127G>A (n.*127G>A) c.3336G>A (p.Trp1112Ter) c.2607G>A (p.Trp869Ter) n.4839G>A c.2445G>A (p.Trp815Ter) n.4012G>A n.2696G>A n.2187G>A c.*269G>A (n.*269G>A) c.1026G>A (p.Trp342Ter) c.3492G>A (p.Trp1164Ter) c.258G>A n.4200G>A c.3261G>A (p.Trp1087Ter) c.3255G>A (p.Trp1085Ter) | ClinVar dbSNP |
16 | g.23603529C>A | CA395137932 | PALB2 | c.3497G>T (p.Trp1166Leu) c.*976G>T (n.*976G>T) c.*126G>T (n.*126G>T) c.3335G>T (p.Trp1112Leu) c.2606G>T (p.Trp869Leu) n.4838G>T c.2444G>T (p.Trp815Leu) n.4011G>T n.2695G>T n.2186G>T c.*268G>T (n.*268G>T) c.1025G>T (p.Trp342Leu) c.3491G>T (p.Trp1164Leu) c.257G>T n.4199G>T c.3260G>T (p.Trp1087Leu) c.3254G>T (p.Trp1085Leu) | dbSNP |
16 | g.23603529C= | CA2213424354 | PALB2 | c.3497G= (p.Trp1166=) c.*976G= (n.*976G=) c.*126G= (n.*126G=) c.3335G= (p.Trp1112=) c.2606G= (p.Trp869=) n.4838G= c.2444G= (p.Trp815=) n.4011G= n.2695G= n.2186G= c.*268G= (n.*268G=) c.1025G= (p.Trp342=) c.3491G= (p.Trp1164=) c.257G= n.4199G= c.3260G= (p.Trp1087=) c.3254G= (p.Trp1085=) | |
16 | g.23603529C>G | CA395137934 | PALB2 | c.3497G>C (p.Trp1166Ser) c.*976G>C (n.*976G>C) c.*126G>C (n.*126G>C) c.3335G>C (p.Trp1112Ser) c.2606G>C (p.Trp869Ser) n.4838G>C c.2444G>C (p.Trp815Ser) n.4011G>C n.2695G>C n.2186G>C c.*268G>C (n.*268G>C) c.1025G>C (p.Trp342Ser) c.3491G>C (p.Trp1164Ser) c.257G>C n.4199G>C c.3260G>C (p.Trp1087Ser) c.3254G>C (p.Trp1085Ser) | |
16 | g.23603529C>T | CA10584500 | PALB2 | c.3497G>A (p.Trp1166Ter) c.*976G>A (n.*976G>A) c.*126G>A (n.*126G>A) c.3335G>A (p.Trp1112Ter) c.2606G>A (p.Trp869Ter) n.4838G>A c.2444G>A (p.Trp815Ter) n.4011G>A n.2695G>A n.2186G>A c.*268G>A (n.*268G>A) c.1025G>A (p.Trp342Ter) c.3491G>A (p.Trp1164Ter) c.257G>A n.4199G>A c.3260G>A (p.Trp1087Ter) c.3254G>A (p.Trp1085Ter) | ClinVar dbSNP |
16 | g.23603530A= | CA2213424356 | PALB2 | c.3496T= (p.Trp1166=) c.*975T= (n.*975T=) c.*125T= (n.*125T=) c.3334T= (p.Trp1112=) c.2605T= (p.Trp869=) n.4837T= c.2443T= (p.Trp815=) n.4010T= n.2694T= n.2185T= c.*267T= (n.*267T=) c.1024T= (p.Trp342=) c.3490T= (p.Trp1164=) c.256T= n.4198T= c.3259T= (p.Trp1087=) c.3253T= (p.Trp1085=) | |
16 | g.23603530A>C | CA395137937 | PALB2 | c.3496T>G (p.Trp1166Gly) c.*975T>G (n.*975T>G) c.*125T>G (n.*125T>G) c.3334T>G (p.Trp1112Gly) c.2605T>G (p.Trp869Gly) n.4837T>G c.2443T>G (p.Trp815Gly) n.4010T>G n.2694T>G n.2185T>G c.*267T>G (n.*267T>G) c.1024T>G (p.Trp342Gly) c.3490T>G (p.Trp1164Gly) c.256T>G n.4198T>G c.3259T>G (p.Trp1087Gly) c.3253T>G (p.Trp1085Gly) | |
16 | g.23603530A>G | CA7963330 | PALB2 | c.3496T>C (p.Trp1166Arg) c.*975T>C (n.*975T>C) c.*125T>C (n.*125T>C) c.3334T>C (p.Trp1112Arg) c.2605T>C (p.Trp869Arg) n.4837T>C c.2443T>C (p.Trp815Arg) n.4010T>C n.2694T>C n.2185T>C c.*267T>C (n.*267T>C) c.1024T>C (p.Trp342Arg) c.3490T>C (p.Trp1164Arg) c.256T>C n.4198T>C c.3259T>C (p.Trp1087Arg) c.3253T>C (p.Trp1085Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603530A>T | CA395137939 | PALB2 | c.3496T>A (p.Trp1166Arg) c.*975T>A (n.*975T>A) c.*125T>A (n.*125T>A) c.3334T>A (p.Trp1112Arg) c.2605T>A (p.Trp869Arg) n.4837T>A c.2443T>A (p.Trp815Arg) n.4010T>A n.2694T>A n.2185T>A c.*267T>A (n.*267T>A) c.1024T>A (p.Trp342Arg) c.3490T>A (p.Trp1164Arg) c.256T>A n.4198T>A c.3259T>A (p.Trp1087Arg) c.3253T>A (p.Trp1085Arg) | ClinVar dbSNP |
16 | g.23603531T>A | CA395137941 | PALB2 | c.3495A>T (p.Lys1165Asn) c.*974A>T (n.*974A>T) c.*124A>T (n.*124A>T) c.3333A>T (p.Lys1111Asn) c.2604A>T (p.Lys868Asn) n.4836A>T c.2442A>T (p.Lys814Asn) n.4009A>T n.2693A>T n.2184A>T c.*266A>T (n.*266A>T) c.1023A>T (p.Lys341Asn) c.3489A>T (p.Lys1163Asn) c.255A>T n.4197A>T c.3258A>T (p.Lys1086Asn) c.3252A>T (p.Lys1084Asn) | |
16 | g.23603531T>C | CA494173567 | PALB2 | c.3495A>G (p.Lys1165=) c.*974A>G (n.*974A>G) c.*124A>G (n.*124A>G) c.3333A>G (p.Lys1111=) c.2604A>G (p.Lys868=) n.4836A>G c.2442A>G (p.Lys814=) n.4009A>G n.2693A>G n.2184A>G c.*266A>G (n.*266A>G) c.1023A>G (p.Lys341=) c.3489A>G (p.Lys1163=) c.255A>G n.4197A>G c.3258A>G (p.Lys1086=) c.3252A>G (p.Lys1084=) | |
16 | g.23603531T>G | CA395137943 | PALB2 | c.3495A>C (p.Lys1165Asn) c.*974A>C (n.*974A>C) c.*124A>C (n.*124A>C) c.3333A>C (p.Lys1111Asn) c.2604A>C (p.Lys868Asn) n.4836A>C c.2442A>C (p.Lys814Asn) n.4009A>C n.2693A>C n.2184A>C c.*266A>C (n.*266A>C) c.1023A>C (p.Lys341Asn) c.3489A>C (p.Lys1163Asn) c.255A>C n.4197A>C c.3258A>C (p.Lys1086Asn) c.3252A>C (p.Lys1084Asn) | |
16 | g.23603532T>A | CA10579911 | PALB2 | c.3494A>T (p.Lys1165Ile) c.*973A>T (n.*973A>T) c.*123A>T (n.*123A>T) c.3332A>T (p.Lys1111Ile) c.2603A>T (p.Lys868Ile) n.4835A>T c.2441A>T (p.Lys814Ile) n.4008A>T n.2692A>T n.2183A>T c.*265A>T (n.*265A>T) c.1022A>T (p.Lys341Ile) c.3488A>T (p.Lys1163Ile) c.254A>T n.4196A>T c.3257A>T (p.Lys1086Ile) c.3251A>T (p.Lys1084Ile) | ClinVar dbSNP |
16 | g.23603532T>C | CA395137947 | PALB2 | c.3494A>G (p.Lys1165Arg) c.*973A>G (n.*973A>G) c.*123A>G (n.*123A>G) c.3332A>G (p.Lys1111Arg) c.2603A>G (p.Lys868Arg) n.4835A>G c.2441A>G (p.Lys814Arg) n.4008A>G n.2692A>G n.2183A>G c.*265A>G (n.*265A>G) c.1022A>G (p.Lys341Arg) c.3488A>G (p.Lys1163Arg) c.254A>G n.4196A>G c.3257A>G (p.Lys1086Arg) c.3251A>G (p.Lys1084Arg) | dbSNP |
16 | g.23603532T>G | CA395137945 | PALB2 | c.3494A>C (p.Lys1165Thr) c.*973A>C (n.*973A>C) c.*123A>C (n.*123A>C) c.3332A>C (p.Lys1111Thr) c.2603A>C (p.Lys868Thr) n.4835A>C c.2441A>C (p.Lys814Thr) n.4008A>C n.2692A>C n.2183A>C c.*265A>C (n.*265A>C) c.1022A>C (p.Lys341Thr) c.3488A>C (p.Lys1163Thr) c.254A>C n.4196A>C c.3257A>C (p.Lys1086Thr) c.3251A>C (p.Lys1084Thr) | |
16 | g.23603532T= | CA2213424359 | PALB2 | c.3494A= (p.Lys1165=) c.*973A= (n.*973A=) c.*123A= (n.*123A=) c.3332A= (p.Lys1111=) c.2603A= (p.Lys868=) n.4835A= c.2441A= (p.Lys814=) n.4008A= n.2692A= n.2183A= c.*265A= (n.*265A=) c.1022A= (p.Lys341=) c.3488A= (p.Lys1163=) c.254A= n.4196A= c.3257A= (p.Lys1086=) c.3251A= (p.Lys1084=) | |
16 | g.23603533T>A | CA395137950 | PALB2 | c.3493A>T (p.Lys1165Ter) c.*972A>T (n.*972A>T) c.*122A>T (n.*122A>T) c.3331A>T (p.Lys1111Ter) c.2602A>T (p.Lys868Ter) n.4834A>T c.2440A>T (p.Lys814Ter) n.4007A>T n.2691A>T n.2182A>T c.*264A>T (n.*264A>T) c.1021A>T (p.Lys341Ter) c.3487A>T (p.Lys1163Ter) c.253A>T n.4195A>T c.3256A>T (p.Lys1086Ter) c.3250A>T (p.Lys1084Ter) | dbSNP |
16 | g.23603533T>C | CA279524941 | PALB2 | c.3493A>G (p.Lys1165Glu) c.*972A>G (n.*972A>G) c.*122A>G (n.*122A>G) c.3331A>G (p.Lys1111Glu) c.2602A>G (p.Lys868Glu) n.4834A>G c.2440A>G (p.Lys814Glu) n.4007A>G n.2691A>G n.2182A>G c.*264A>G (n.*264A>G) c.1021A>G (p.Lys341Glu) c.3487A>G (p.Lys1163Glu) c.253A>G n.4195A>G c.3256A>G (p.Lys1086Glu) c.3250A>G (p.Lys1084Glu) | ClinVar dbSNP |
16 | g.23603533T>G | CA395137953 | PALB2 | c.3493A>C (p.Lys1165Gln) c.*972A>C (n.*972A>C) c.*122A>C (n.*122A>C) c.3331A>C (p.Lys1111Gln) c.2602A>C (p.Lys868Gln) n.4834A>C c.2440A>C (p.Lys814Gln) n.4007A>C n.2691A>C n.2182A>C c.*264A>C (n.*264A>C) c.1021A>C (p.Lys341Gln) c.3487A>C (p.Lys1163Gln) c.253A>C n.4195A>C c.3256A>C (p.Lys1086Gln) c.3250A>C (p.Lys1084Gln) | |
16 | g.23603533T= | CA2213424361 | PALB2 | c.3493A= (p.Lys1165=) c.*972A= (n.*972A=) c.*122A= (n.*122A=) c.3331A= (p.Lys1111=) c.2602A= (p.Lys868=) n.4834A= c.2440A= (p.Lys814=) n.4007A= n.2691A= n.2182A= c.*264A= (n.*264A=) c.1021A= (p.Lys341=) c.3487A= (p.Lys1163=) c.253A= n.4195A= c.3256A= (p.Lys1086=) c.3250A= (p.Lys1084=) | |
16 | g.23603534C>A | CA494173571 | PALB2 | c.3492G>T (p.Val1164=) c.*971G>T (n.*971G>T) c.*121G>T (n.*121G>T) c.3330G>T (p.Val1110=) c.2601G>T (p.Val867=) n.4833G>T c.2439G>T (p.Val813=) n.4006G>T n.2690G>T n.2181G>T c.*263G>T (n.*263G>T) c.1020G>T (p.Val340=) c.3486G>T (p.Val1162=) c.252G>T n.4194G>T c.3255G>T (p.Val1085=) c.3249G>T (p.Val1083=) | dbSNP |
16 | g.23603534C= | CA2213424364 | PALB2 | c.3492G= (p.Val1164=) c.*971G= (n.*971G=) c.*121G= (n.*121G=) c.3330G= (p.Val1110=) c.2601G= (p.Val867=) n.4833G= c.2439G= (p.Val813=) n.4006G= n.2690G= n.2181G= c.*263G= (n.*263G=) c.1020G= (p.Val340=) c.3486G= (p.Val1162=) c.252G= n.4194G= c.3255G= (p.Val1085=) c.3249G= (p.Val1083=) | |
16 | g.23603534C>G | CA494173572 | PALB2 | c.3492G>C (p.Val1164=) c.*971G>C (n.*971G>C) c.*121G>C (n.*121G>C) c.3330G>C (p.Val1110=) c.2601G>C (p.Val867=) n.4833G>C c.2439G>C (p.Val813=) n.4006G>C n.2690G>C n.2181G>C c.*263G>C (n.*263G>C) c.1020G>C (p.Val340=) c.3486G>C (p.Val1162=) c.252G>C n.4194G>C c.3255G>C (p.Val1085=) c.3249G>C (p.Val1083=) | dbSNP |
16 | g.23603534C>T | CA494173573 | PALB2 | c.3492G>A (p.Val1164=) c.*971G>A (n.*971G>A) c.*121G>A (n.*121G>A) c.3330G>A (p.Val1110=) c.2601G>A (p.Val867=) n.4833G>A c.2439G>A (p.Val813=) n.4006G>A n.2690G>A n.2181G>A c.*263G>A (n.*263G>A) c.1020G>A (p.Val340=) c.3486G>A (p.Val1162=) c.252G>A n.4194G>A c.3255G>A (p.Val1085=) c.3249G>A (p.Val1083=) | ClinVar dbSNP |
16 | g.23603535A= | CA2213424366 | PALB2 | c.3491T= (p.Val1164=) c.*970T= (n.*970T=) c.*120T= (n.*120T=) c.3329T= (p.Val1110=) c.2600T= (p.Val867=) n.4832T= c.2438T= (p.Val813=) n.4005T= n.2689T= n.2180T= c.*262T= (n.*262T=) c.1019T= (p.Val340=) c.3485T= (p.Val1162=) c.251T= n.4193T= c.3254T= (p.Val1085=) c.3248T= (p.Val1083=) | |
16 | g.23603535A>C | CA395137955 | PALB2 | c.3491T>G (p.Val1164Gly) c.*970T>G (n.*970T>G) c.*120T>G (n.*120T>G) c.3329T>G (p.Val1110Gly) c.2600T>G (p.Val867Gly) n.4832T>G c.2438T>G (p.Val813Gly) n.4005T>G n.2689T>G n.2180T>G c.*262T>G (n.*262T>G) c.1019T>G (p.Val340Gly) c.3485T>G (p.Val1162Gly) c.251T>G n.4193T>G c.3254T>G (p.Val1085Gly) c.3248T>G (p.Val1083Gly) | |
16 | g.23603535A>G | CA395137957 | PALB2 | c.3491T>C (p.Val1164Ala) c.*970T>C (n.*970T>C) c.*120T>C (n.*120T>C) c.3329T>C (p.Val1110Ala) c.2600T>C (p.Val867Ala) n.4832T>C c.2438T>C (p.Val813Ala) n.4005T>C n.2689T>C n.2180T>C c.*262T>C (n.*262T>C) c.1019T>C (p.Val340Ala) c.3485T>C (p.Val1162Ala) c.251T>C n.4193T>C c.3254T>C (p.Val1085Ala) c.3248T>C (p.Val1083Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603535A>T | CA395137959 | PALB2 | c.3491T>A (p.Val1164Glu) c.*970T>A (n.*970T>A) c.*120T>A (n.*120T>A) c.3329T>A (p.Val1110Glu) c.2600T>A (p.Val867Glu) n.4832T>A c.2438T>A (p.Val813Glu) n.4005T>A n.2689T>A n.2180T>A c.*262T>A (n.*262T>A) c.1019T>A (p.Val340Glu) c.3485T>A (p.Val1162Glu) c.251T>A n.4193T>A c.3254T>A (p.Val1085Glu) c.3248T>A (p.Val1083Glu) | |
16 | g.23603536C>A | CA395137961 | PALB2 | c.3490G>T (p.Val1164Leu) c.*969G>T (n.*969G>T) c.*119G>T (n.*119G>T) c.3328G>T (p.Val1110Leu) c.2599G>T (p.Val867Leu) n.4831G>T c.2437G>T (p.Val813Leu) n.4004G>T n.2688G>T n.2179G>T c.*261G>T (n.*261G>T) c.1018G>T (p.Val340Leu) c.3484G>T (p.Val1162Leu) c.250G>T n.4192G>T c.3253G>T (p.Val1085Leu) c.3247G>T (p.Val1083Leu) | |
16 | g.23603536C= | CA2213424368 | PALB2 | c.3490G= (p.Val1164=) c.*969G= (n.*969G=) c.*119G= (n.*119G=) c.3328G= (p.Val1110=) c.2599G= (p.Val867=) n.4831G= c.2437G= (p.Val813=) n.4004G= n.2688G= n.2179G= c.*261G= (n.*261G=) c.1018G= (p.Val340=) c.3484G= (p.Val1162=) c.250G= n.4192G= c.3253G= (p.Val1085=) c.3247G= (p.Val1083=) | |
16 | g.23603536C>G | CA395137963 | PALB2 | c.3490G>C (p.Val1164Leu) c.*969G>C (n.*969G>C) c.*119G>C (n.*119G>C) c.3328G>C (p.Val1110Leu) c.2599G>C (p.Val867Leu) n.4831G>C c.2437G>C (p.Val813Leu) n.4004G>C n.2688G>C n.2179G>C c.*261G>C (n.*261G>C) c.1018G>C (p.Val340Leu) c.3484G>C (p.Val1162Leu) c.250G>C n.4192G>C c.3253G>C (p.Val1085Leu) c.3247G>C (p.Val1083Leu) | dbSNP |
16 | g.23603536C>T | CA16615211 | PALB2 | c.3490G>A (p.Val1164Met) c.*969G>A (n.*969G>A) c.*119G>A (n.*119G>A) c.3328G>A (p.Val1110Met) c.2599G>A (p.Val867Met) n.4831G>A c.2437G>A (p.Val813Met) n.4004G>A n.2688G>A n.2179G>A c.*261G>A (n.*261G>A) c.1018G>A (p.Val340Met) c.3484G>A (p.Val1162Met) c.250G>A n.4192G>A c.3253G>A (p.Val1085Met) c.3247G>A (p.Val1083Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.23603537A= | CA2213424370 | PALB2 | c.3489T= (p.Phe1163=) c.*968T= (n.*968T=) c.*118T= (n.*118T=) c.3327T= (p.Phe1109=) c.2598T= (p.Phe866=) n.4830T= c.2436T= (p.Phe812=) n.4003T= n.2687T= n.2178T= c.*260T= (n.*260T=) c.1017T= (p.Phe339=) c.3483T= (p.Phe1161=) c.249T= n.4191T= c.3252T= (p.Phe1084=) c.3246T= (p.Phe1082=) | |
16 | g.23603537A>C | CA395137965 | PALB2 | c.3489T>G (p.Phe1163Leu) c.*968T>G (n.*968T>G) c.*118T>G (n.*118T>G) c.3327T>G (p.Phe1109Leu) c.2598T>G (p.Phe866Leu) n.4830T>G c.2436T>G (p.Phe812Leu) n.4003T>G n.2687T>G n.2178T>G c.*260T>G (n.*260T>G) c.1017T>G (p.Phe339Leu) c.3483T>G (p.Phe1161Leu) c.249T>G n.4191T>G c.3252T>G (p.Phe1084Leu) c.3246T>G (p.Phe1082Leu) | |
16 | g.23603537A>G | CA187303 | PALB2 | c.3489T>C (p.Phe1163=) c.*968T>C (n.*968T>C) c.*118T>C (n.*118T>C) c.3327T>C (p.Phe1109=) c.2598T>C (p.Phe866=) n.4830T>C c.2436T>C (p.Phe812=) n.4003T>C n.2687T>C n.2178T>C c.*260T>C (n.*260T>C) c.1017T>C (p.Phe339=) c.3483T>C (p.Phe1161=) c.249T>C n.4191T>C c.3252T>C (p.Phe1084=) c.3246T>C (p.Phe1082=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603537A>T | CA395137968 | PALB2 | c.3489T>A (p.Phe1163Leu) c.*968T>A (n.*968T>A) c.*118T>A (n.*118T>A) c.3327T>A (p.Phe1109Leu) c.2598T>A (p.Phe866Leu) n.4830T>A c.2436T>A (p.Phe812Leu) n.4003T>A n.2687T>A n.2178T>A c.*260T>A (n.*260T>A) c.1017T>A (p.Phe339Leu) c.3483T>A (p.Phe1161Leu) c.249T>A n.4191T>A c.3252T>A (p.Phe1084Leu) c.3246T>A (p.Phe1082Leu) | ClinVar |
16 | g.23603540del | CA2499223399 | PALB2 | c.3489del (p.Phe1163LeufsTer2) c.*968del (n.*968del) c.*118del (n.*118del) c.3327del (p.Phe1109LeufsTer2) c.2598del (p.Phe866LeufsTer2) n.4830del c.2436del (p.Phe812LeufsTer2) n.4003del n.2687del n.2178del c.*260del (n.*260del) c.1017del (p.Phe339LeufsTer2) c.3483del (p.Phe1161LeufsTer2) c.249del n.4191del c.3252del (p.Phe1084LeufsTer2) c.3246del (p.Phe1082LeufsTer2) | ClinVar dbSNP |
16 | g.23603538A>C | CA395137970 | PALB2 | c.3488T>G (p.Phe1163Cys) c.*967T>G (n.*967T>G) c.*117T>G (n.*117T>G) c.3326T>G (p.Phe1109Cys) c.2597T>G (p.Phe866Cys) n.4829T>G c.2435T>G (p.Phe812Cys) n.4002T>G n.2686T>G n.2177T>G c.*259T>G (n.*259T>G) c.1016T>G (p.Phe339Cys) c.3482T>G (p.Phe1161Cys) c.248T>G n.4190T>G c.3251T>G (p.Phe1084Cys) c.3245T>G (p.Phe1082Cys) | |
16 | g.23603538A>G | CA395137971 | PALB2 | c.3488T>C (p.Phe1163Ser) c.*967T>C (n.*967T>C) c.*117T>C (n.*117T>C) c.3326T>C (p.Phe1109Ser) c.2597T>C (p.Phe866Ser) n.4829T>C c.2435T>C (p.Phe812Ser) n.4002T>C n.2686T>C n.2177T>C c.*259T>C (n.*259T>C) c.1016T>C (p.Phe339Ser) c.3482T>C (p.Phe1161Ser) c.248T>C n.4190T>C c.3251T>C (p.Phe1084Ser) c.3245T>C (p.Phe1082Ser) | |
16 | g.23603538A>T | CA395137969 | PALB2 | c.3488T>A (p.Phe1163Tyr) c.*967T>A (n.*967T>A) c.*117T>A (n.*117T>A) c.3326T>A (p.Phe1109Tyr) c.2597T>A (p.Phe866Tyr) n.4829T>A c.2435T>A (p.Phe812Tyr) n.4002T>A n.2686T>A n.2177T>A c.*259T>A (n.*259T>A) c.1016T>A (p.Phe339Tyr) c.3482T>A (p.Phe1161Tyr) c.248T>A n.4190T>A c.3251T>A (p.Phe1084Tyr) c.3245T>A (p.Phe1082Tyr) | dbSNP |
16 | g.23603539A>C | CA395137977 | PALB2 | c.3487T>G (p.Phe1163Val) c.*966T>G (n.*966T>G) c.*116T>G (n.*116T>G) c.3325T>G (p.Phe1109Val) c.2596T>G (p.Phe866Val) n.4828T>G c.2434T>G (p.Phe812Val) n.4001T>G n.2685T>G n.2176T>G c.*258T>G (n.*258T>G) c.1015T>G (p.Phe339Val) c.3481T>G (p.Phe1161Val) c.247T>G n.4189T>G c.3250T>G (p.Phe1084Val) c.3244T>G (p.Phe1082Val) | ClinVar dbSNP |
16 | g.23603539A>G | CA395137973 | PALB2 | c.3487T>C (p.Phe1163Leu) c.*966T>C (n.*966T>C) c.*116T>C (n.*116T>C) c.3325T>C (p.Phe1109Leu) c.2596T>C (p.Phe866Leu) n.4828T>C c.2434T>C (p.Phe812Leu) n.4001T>C n.2685T>C n.2176T>C c.*258T>C (n.*258T>C) c.1015T>C (p.Phe339Leu) c.3481T>C (p.Phe1161Leu) c.247T>C n.4189T>C c.3250T>C (p.Phe1084Leu) c.3244T>C (p.Phe1082Leu) | |
16 | g.23603539A>T | CA395137975 | PALB2 | c.3487T>A (p.Phe1163Ile) c.*966T>A (n.*966T>A) c.*116T>A (n.*116T>A) c.3325T>A (p.Phe1109Ile) c.2596T>A (p.Phe866Ile) n.4828T>A c.2434T>A (p.Phe812Ile) n.4001T>A n.2685T>A n.2176T>A c.*258T>A (n.*258T>A) c.1015T>A (p.Phe339Ile) c.3481T>A (p.Phe1161Ile) c.247T>A n.4189T>A c.3250T>A (p.Phe1084Ile) c.3244T>A (p.Phe1082Ile) | |
16 | g.23603540A>C | CA494173577 | PALB2 | c.3486T>G (p.Ser1162=) c.*965T>G (n.*965T>G) c.*115T>G (n.*115T>G) c.3324T>G (p.Ser1108=) c.2595T>G (p.Ser865=) n.4827T>G c.2433T>G (p.Ser811=) n.4000T>G n.2684T>G n.2175T>G c.*257T>G (n.*257T>G) c.1014T>G (p.Ser338=) c.3480T>G (p.Ser1160=) c.246T>G n.4188T>G c.3249T>G (p.Ser1083=) c.3243T>G (p.Ser1081=) | |
16 | g.23603540A>G | CA494173578 | PALB2 | c.3486T>C (p.Ser1162=) c.*965T>C (n.*965T>C) c.*115T>C (n.*115T>C) c.3324T>C (p.Ser1108=) c.2595T>C (p.Ser865=) n.4827T>C c.2433T>C (p.Ser811=) n.4000T>C n.2684T>C n.2175T>C c.*257T>C (n.*257T>C) c.1014T>C (p.Ser338=) c.3480T>C (p.Ser1160=) c.246T>C n.4188T>C c.3249T>C (p.Ser1083=) c.3243T>C (p.Ser1081=) | |
16 | g.23603540A>T | CA494173579 | PALB2 | c.3486T>A (p.Ser1162=) c.*965T>A (n.*965T>A) c.*115T>A (n.*115T>A) c.3324T>A (p.Ser1108=) c.2595T>A (p.Ser865=) n.4827T>A c.2433T>A (p.Ser811=) n.4000T>A n.2684T>A n.2175T>A c.*257T>A (n.*257T>A) c.1014T>A (p.Ser338=) c.3480T>A (p.Ser1160=) c.246T>A n.4188T>A c.3249T>A (p.Ser1083=) c.3243T>A (p.Ser1081=) | dbSNP |
16 | g.23603541G>A | CA395137978 | PALB2 | c.3485C>T (p.Ser1162Phe) c.*964C>T (n.*964C>T) c.*114C>T (n.*114C>T) c.3323C>T (p.Ser1108Phe) c.2594C>T (p.Ser865Phe) n.4826C>T c.2432C>T (p.Ser811Phe) n.3999C>T n.2683C>T n.2174C>T c.*256C>T (n.*256C>T) c.1013C>T (p.Ser338Phe) c.3479C>T (p.Ser1160Phe) c.245C>T n.4187C>T c.3248C>T (p.Ser1083Phe) c.3242C>T (p.Ser1081Phe) | ClinVar dbSNP |
16 | g.23603541G>C | CA395137980 | PALB2 | c.3485C>G (p.Ser1162Cys) c.*964C>G (n.*964C>G) c.*114C>G (n.*114C>G) c.3323C>G (p.Ser1108Cys) c.2594C>G (p.Ser865Cys) n.4826C>G c.2432C>G (p.Ser811Cys) n.3999C>G n.2683C>G n.2174C>G c.*256C>G (n.*256C>G) c.1013C>G (p.Ser338Cys) c.3479C>G (p.Ser1160Cys) c.245C>G n.4187C>G c.3248C>G (p.Ser1083Cys) c.3242C>G (p.Ser1081Cys) | dbSNP gnomAD v4 |
16 | g.23603541G>T | CA395137982 | PALB2 | c.3485C>A (p.Ser1162Tyr) c.*964C>A (n.*964C>A) c.*114C>A (n.*114C>A) c.3323C>A (p.Ser1108Tyr) c.2594C>A (p.Ser865Tyr) n.4826C>A c.2432C>A (p.Ser811Tyr) n.3999C>A n.2683C>A n.2174C>A c.*256C>A (n.*256C>A) c.1013C>A (p.Ser338Tyr) c.3479C>A (p.Ser1160Tyr) c.245C>A n.4187C>A c.3248C>A (p.Ser1083Tyr) c.3242C>A (p.Ser1081Tyr) | |
16 | g.23603542A>C | CA395137983 | PALB2 | c.3484T>G (p.Ser1162Ala) c.*963T>G (n.*963T>G) c.*113T>G (n.*113T>G) c.3322T>G (p.Ser1108Ala) c.2593T>G (p.Ser865Ala) n.4825T>G c.2431T>G (p.Ser811Ala) n.3998T>G n.2682T>G n.2173T>G c.*255T>G (n.*255T>G) c.1012T>G (p.Ser338Ala) c.3478T>G (p.Ser1160Ala) c.244T>G n.4186T>G c.3247T>G (p.Ser1083Ala) c.3241T>G (p.Ser1081Ala) | ClinVar gnomAD v4 |
16 | g.23603542A>G | CA395137985 | PALB2 | c.3484T>C (p.Ser1162Pro) c.*963T>C (n.*963T>C) c.*113T>C (n.*113T>C) c.3322T>C (p.Ser1108Pro) c.2593T>C (p.Ser865Pro) n.4825T>C c.2431T>C (p.Ser811Pro) n.3998T>C n.2682T>C n.2173T>C c.*255T>C (n.*255T>C) c.1012T>C (p.Ser338Pro) c.3478T>C (p.Ser1160Pro) c.244T>C n.4186T>C c.3247T>C (p.Ser1083Pro) c.3241T>C (p.Ser1081Pro) | |
16 | g.23603542A>T | CA395137987 | PALB2 | c.3484T>A (p.Ser1162Thr) c.*963T>A (n.*963T>A) c.*113T>A (n.*113T>A) c.3322T>A (p.Ser1108Thr) c.2593T>A (p.Ser865Thr) n.4825T>A c.2431T>A (p.Ser811Thr) n.3998T>A n.2682T>A n.2173T>A c.*255T>A (n.*255T>A) c.1012T>A (p.Ser338Thr) c.3478T>A (p.Ser1160Thr) c.244T>A n.4186T>A c.3247T>A (p.Ser1083Thr) c.3241T>A (p.Ser1081Thr) | dbSNP |
16 | g.23603543C>A | CA395137989 | PALB2 | c.3483G>T (p.Trp1161Cys) c.*962G>T (n.*962G>T) c.*112G>T (n.*112G>T) c.3321G>T (p.Trp1107Cys) c.2592G>T (p.Trp864Cys) n.4824G>T c.2430G>T (p.Trp810Cys) n.3997G>T n.2681G>T n.2172G>T c.*254G>T (n.*254G>T) c.1011G>T (p.Trp337Cys) c.3477G>T (p.Trp1159Cys) c.243G>T n.4185G>T c.3246G>T (p.Trp1082Cys) c.3240G>T (p.Trp1080Cys) | dbSNP |
16 | g.23603543C= | CA2213424372 | PALB2 | c.3483G= (p.Trp1161=) c.*962G= (n.*962G=) c.*112G= (n.*112G=) c.3321G= (p.Trp1107=) c.2592G= (p.Trp864=) n.4824G= c.2430G= (p.Trp810=) n.3997G= n.2681G= n.2172G= c.*254G= (n.*254G=) c.1011G= (p.Trp337=) c.3477G= (p.Trp1159=) c.243G= n.4185G= c.3246G= (p.Trp1082=) c.3240G= (p.Trp1080=) | |
16 | g.23603543C>G | CA395137991 | PALB2 | c.3483G>C (p.Trp1161Cys) c.*962G>C (n.*962G>C) c.*112G>C (n.*112G>C) c.3321G>C (p.Trp1107Cys) c.2592G>C (p.Trp864Cys) n.4824G>C c.2430G>C (p.Trp810Cys) n.3997G>C n.2681G>C n.2172G>C c.*254G>C (n.*254G>C) c.1011G>C (p.Trp337Cys) c.3477G>C (p.Trp1159Cys) c.243G>C n.4185G>C c.3246G>C (p.Trp1082Cys) c.3240G>C (p.Trp1080Cys) | dbSNP |
16 | g.23603543C>T | CA395137993 | PALB2 | c.3483G>A (p.Trp1161Ter) c.*962G>A (n.*962G>A) c.*112G>A (n.*112G>A) c.3321G>A (p.Trp1107Ter) c.2592G>A (p.Trp864Ter) n.4824G>A c.2430G>A (p.Trp810Ter) n.3997G>A n.2681G>A n.2172G>A c.*254G>A (n.*254G>A) c.1011G>A (p.Trp337Ter) c.3477G>A (p.Trp1159Ter) c.243G>A n.4185G>A c.3246G>A (p.Trp1082Ter) c.3240G>A (p.Trp1080Ter) | ClinVar dbSNP |
16 | g.23603544C>A | CA279524947 | PALB2 | c.3482G>T (p.Trp1161Leu) c.*961G>T (n.*961G>T) c.*111G>T (n.*111G>T) c.3320G>T (p.Trp1107Leu) c.2591G>T (p.Trp864Leu) n.4823G>T c.2429G>T (p.Trp810Leu) n.3996G>T n.2680G>T n.2171G>T c.*253G>T (n.*253G>T) c.1010G>T (p.Trp337Leu) c.3476G>T (p.Trp1159Leu) c.242G>T n.4184G>T c.3245G>T (p.Trp1082Leu) c.3239G>T (p.Trp1080Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603544C= | CA2213424376 | PALB2 | c.3482G= (p.Trp1161=) c.*961G= (n.*961G=) c.*111G= (n.*111G=) c.3320G= (p.Trp1107=) c.2591G= (p.Trp864=) n.4823G= c.2429G= (p.Trp810=) n.3996G= n.2680G= n.2171G= c.*253G= (n.*253G=) c.1010G= (p.Trp337=) c.3476G= (p.Trp1159=) c.242G= n.4184G= c.3245G= (p.Trp1082=) c.3239G= (p.Trp1080=) | |
16 | g.23603544C>G | CA395137998 | PALB2 | c.3482G>C (p.Trp1161Ser) c.*961G>C (n.*961G>C) c.*111G>C (n.*111G>C) c.3320G>C (p.Trp1107Ser) c.2591G>C (p.Trp864Ser) n.4823G>C c.2429G>C (p.Trp810Ser) n.3996G>C n.2680G>C n.2171G>C c.*253G>C (n.*253G>C) c.1010G>C (p.Trp337Ser) c.3476G>C (p.Trp1159Ser) c.242G>C n.4184G>C c.3245G>C (p.Trp1082Ser) c.3239G>C (p.Trp1080Ser) | dbSNP |
16 | g.23603544C>T | CA166575 | PALB2 | c.3482G>A (p.Trp1161Ter) c.*961G>A (n.*961G>A) c.*111G>A (n.*111G>A) c.3320G>A (p.Trp1107Ter) c.2591G>A (p.Trp864Ter) n.4823G>A c.2429G>A (p.Trp810Ter) n.3996G>A n.2680G>A n.2171G>A c.*253G>A (n.*253G>A) c.1010G>A (p.Trp337Ter) c.3476G>A (p.Trp1159Ter) c.242G>A n.4184G>A c.3245G>A (p.Trp1082Ter) c.3239G>A (p.Trp1080Ter) | ClinVar dbSNP |
16 | g.23603544_23603547dup | CA10579912 | PALB2 | c.3479_3482dup (p.Trp1161Ter) c.*958_*961dup (n.*958_*961dup) c.*108_*111dup (n.*108_*111dup) c.3317_3320dup (p.Trp1107Ter) c.2588_2591dup (p.Trp864Ter) n.4820_4823dup c.2426_2429dup (p.Trp810Ter) n.3993_3996dup n.2677_2680dup n.2168_2171dup c.*250_*253dup (n.*250_*253dup) c.1007_1010dup (p.Trp337Ter) c.3473_3476dup (p.Trp1159Ter) c.239_242dup n.4181_4184dup c.3242_3245dup (p.Trp1082Ter) c.3236_3239dup (p.Trp1080Ter) | ClinVar dbSNP |
16 | g.23603545A= | CA2213424380 | PALB2 | c.3481T= (p.Trp1161=) c.*960T= (n.*960T=) c.*110T= (n.*110T=) c.3319T= (p.Trp1107=) c.2590T= (p.Trp864=) n.4822T= c.2428T= (p.Trp810=) n.3995T= n.2679T= n.2170T= c.*252T= (n.*252T=) c.1009T= (p.Trp337=) c.3475T= (p.Trp1159=) c.241T= n.4183T= c.3244T= (p.Trp1082=) c.3238T= (p.Trp1080=) | |
16 | g.23603545A>C | CA395138001 | PALB2 | c.3481T>G (p.Trp1161Gly) c.*960T>G (n.*960T>G) c.*110T>G (n.*110T>G) c.3319T>G (p.Trp1107Gly) c.2590T>G (p.Trp864Gly) n.4822T>G c.2428T>G (p.Trp810Gly) n.3995T>G n.2679T>G n.2170T>G c.*252T>G (n.*252T>G) c.1009T>G (p.Trp337Gly) c.3475T>G (p.Trp1159Gly) c.241T>G n.4183T>G c.3244T>G (p.Trp1082Gly) c.3238T>G (p.Trp1080Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.23603545A>G | CA10579913 | PALB2 | c.3481T>C (p.Trp1161Arg) c.*960T>C (n.*960T>C) c.*110T>C (n.*110T>C) c.3319T>C (p.Trp1107Arg) c.2590T>C (p.Trp864Arg) n.4822T>C c.2428T>C (p.Trp810Arg) n.3995T>C n.2679T>C n.2170T>C c.*252T>C (n.*252T>C) c.1009T>C (p.Trp337Arg) c.3475T>C (p.Trp1159Arg) c.241T>C n.4183T>C c.3244T>C (p.Trp1082Arg) c.3238T>C (p.Trp1080Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.23603545A>T | CA395138004 | PALB2 | c.3481T>A (p.Trp1161Arg) c.*960T>A (n.*960T>A) c.*110T>A (n.*110T>A) c.3319T>A (p.Trp1107Arg) c.2590T>A (p.Trp864Arg) n.4822T>A c.2428T>A (p.Trp810Arg) n.3995T>A n.2679T>A n.2170T>A c.*252T>A (n.*252T>A) c.1009T>A (p.Trp337Arg) c.3475T>A (p.Trp1159Arg) c.241T>A n.4183T>A c.3244T>A (p.Trp1082Arg) c.3238T>A (p.Trp1080Arg) | dbSNP |
16 | g.23603546del | CA2573152149 | PALB2 | c.3481del (p.Trp1161GlyfsTer4) c.*960del (n.*960del) c.*110del (n.*110del) c.3319del (p.Trp1107GlyfsTer4) c.2590del (p.Trp864GlyfsTer4) n.4822del c.2428del (p.Trp810GlyfsTer4) n.3995del n.2679del n.2170del c.*252del (n.*252del) c.1009del (p.Trp337GlyfsTer4) c.3475del (p.Trp1159GlyfsTer4) c.241del n.4183del c.3244del (p.Trp1082GlyfsTer4) c.3238del (p.Trp1080GlyfsTer4) | ClinVar dbSNP |
16 | g.23603546A= | CA2213424382 | PALB2 | c.3480T= (p.His1160=) c.*959T= (n.*959T=) c.*109T= (n.*109T=) c.3318T= (p.His1106=) c.2589T= (p.His863=) n.4821T= c.2427T= (p.His809=) n.3994T= n.2678T= n.2169T= c.*251T= (n.*251T=) c.1008T= (p.His336=) c.3474T= (p.His1158=) c.240T= n.4182T= c.3243T= (p.His1081=) c.3237T= (p.His1079=) | |
16 | g.23603546A>C | CA395138006 | PALB2 | c.3480T>G (p.His1160Gln) c.*959T>G (n.*959T>G) c.*109T>G (n.*109T>G) c.3318T>G (p.His1106Gln) c.2589T>G (p.His863Gln) n.4821T>G c.2427T>G (p.His809Gln) n.3994T>G n.2678T>G n.2169T>G c.*251T>G (n.*251T>G) c.1008T>G (p.His336Gln) c.3474T>G (p.His1158Gln) c.240T>G n.4182T>G c.3243T>G (p.His1081Gln) c.3237T>G (p.His1079Gln) | gnomAD v4 |
16 | g.23603546A>G | CA7963331 | PALB2 | c.3480T>C (p.His1160=) c.*959T>C (n.*959T>C) c.*109T>C (n.*109T>C) c.3318T>C (p.His1106=) c.2589T>C (p.His863=) n.4821T>C c.2427T>C (p.His809=) n.3994T>C n.2678T>C n.2169T>C c.*251T>C (n.*251T>C) c.1008T>C (p.His336=) c.3474T>C (p.His1158=) c.240T>C n.4182T>C c.3243T>C (p.His1081=) c.3237T>C (p.His1079=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.23603546A>T | CA299759 | PALB2 | c.3480T>A (p.His1160Gln) c.*959T>A (n.*959T>A) c.*109T>A (n.*109T>A) c.3318T>A (p.His1106Gln) c.2589T>A (p.His863Gln) n.4821T>A c.2427T>A (p.His809Gln) n.3994T>A n.2678T>A n.2169T>A c.*251T>A (n.*251T>A) c.1008T>A (p.His336Gln) c.3474T>A (p.His1158Gln) c.240T>A n.4182T>A c.3243T>A (p.His1081Gln) c.3237T>A (p.His1079Gln) | ClinVar dbSNP gnomAD v4 |
16 | g.23603547T>A | CA395138010 | PALB2 | c.3479A>T (p.His1160Leu) c.*958A>T (n.*958A>T) c.*108A>T (n.*108A>T) c.3317A>T (p.His1106Leu) c.2588A>T (p.His863Leu) n.4820A>T c.2426A>T (p.His809Leu) n.3993A>T n.2677A>T n.2168A>T c.*250A>T (n.*250A>T) c.1007A>T (p.His336Leu) c.3473A>T (p.His1158Leu) c.239A>T n.4181A>T c.3242A>T (p.His1081Leu) c.3236A>T (p.His1079Leu) | dbSNP |
16 | g.23603547T>C | CA338566 | PALB2 | c.3479A>G (p.His1160Arg) c.*958A>G (n.*958A>G) c.*108A>G (n.*108A>G) c.3317A>G (p.His1106Arg) c.2588A>G (p.His863Arg) n.4820A>G c.2426A>G (p.His809Arg) n.3993A>G n.2677A>G n.2168A>G c.*250A>G (n.*250A>G) c.1007A>G (p.His336Arg) c.3473A>G (p.His1158Arg) c.239A>G n.4181A>G c.3242A>G (p.His1081Arg) c.3236A>G (p.His1079Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.23603547T>G | CA395138012 | PALB2 | c.3479A>C (p.His1160Pro) c.*958A>C (n.*958A>C) c.*108A>C (n.*108A>C) c.3317A>C (p.His1106Pro) c.2588A>C (p.His863Pro) n.4820A>C c.2426A>C (p.His809Pro) n.3993A>C n.2677A>C n.2168A>C c.*250A>C (n.*250A>C) c.1007A>C (p.His336Pro) c.3473A>C (p.His1158Pro) c.239A>C n.4181A>C c.3242A>C (p.His1081Pro) c.3236A>C (p.His1079Pro) | |
16 | g.23603547T= | CA2213424385 | PALB2 | c.3479A= (p.His1160=) c.*958A= (n.*958A=) c.*108A= (n.*108A=) c.3317A= (p.His1106=) c.2588A= (p.His863=) n.4820A= c.2426A= (p.His809=) n.3993A= n.2677A= n.2168A= c.*250A= (n.*250A=) c.1007A= (p.His336=) c.3473A= (p.His1158=) c.239A= n.4181A= c.3242A= (p.His1081=) c.3236A= (p.His1079=) | |
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.23603552_23603553del | CA2838032595 | PALB2 | c.3473_3474del (p.Asp1158AlafsTer?) c.*952_*953del (n.*952_*953del) c.*102_*103del (n.*102_*103del) c.3311_3312del (p.Asp1104AlafsTer?) c.2582_2583del (p.Asp861AlafsTer?) n.4814_4815del c.2420_2421del (p.Asp807AlafsTer?) n.3987_3988del n.2671_2672del n.2162_2163del c.*244_*245del (n.*244_*245del) c.1001_1002del (p.Asp334AlafsTer?) c.3467_3468del (p.Asp1156AlafsTer?) c.233_234del n.4175_4176del c.3236_3237del (p.Asp1079AlafsTer?) c.3230_3231del (p.Asp1077AlafsTer?) | |
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) |