Unique variants in gene PALB2

Information The variants shown are described using the NM_024675.3 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 2 - c.13C>T r.(?) p.(Pro5Ser) g.23652466G>A - PALB2_000007 - - - - Despoina Kalfakakou
./. 1 - c.48+39C>A r.(=) p.(=) g.23652392G>T - PALB2_000063 - - - - Despoina Kalfakakou
./. 3 - c.53A>G r.(?) p.(Lys18Arg) g.23649446T>C - PALB2_000021 - - - - Despoina Kalfakakou
./. 2 - c.84C>T r.(=) p.(=) g.23649415G>A - PALB2_000020 - - - - Despoina Kalfakakou
./. 1 - c.109C>T r.(?) p.(Arg37Cys) g.23649273G>A - PALB2_000061 - - - - Despoina Kalfakakou
./. 1 - c.351T>C r.(=) p.(=) g.23647516A>G - PALB2_000043 - - - - Despoina Kalfakakou
./. 1 - c.445A>C r.(?) p.(Lys149Gln) g.23647422T>G - PALB2_000067 - - - - Despoina Kalfakakou
./. 1 - c.481G>C r.(?) p.(Asp161His) g.23647386C>G - PALB2_000019 - - - - Despoina Kalfakakou
./. 1 - c.721A>G r.(?) p.(Asn241Asp) g.23647146T>C - PALB2_000054 - - - - Despoina Kalfakakou
./. 2 - c.814G>A r.(?) p.(Glu272Lys) g.23647053C>T - PALB2_000045 - - - - Despoina Kalfakakou
./. 2 - c.833T>A r.(?) p.(Leu278Gln) g.23647034A>T - PALB2_000066 - - - - Despoina Kalfakakou
./. 2 - c.834A>T r.(=) p.(=) g.23647033T>A - PALB2_000065 - - - - Despoina Kalfakakou
./. 1 - c.882A>G r.(=) p.(=) g.23646985T>C - PALB2_000018 - - - - Despoina Kalfakakou
./. 1 - c.1001A>G r.(?) p.(Tyr334Cys) g.23646866T>C - PALB2_000017 - - - - Despoina Kalfakakou
./. 2 - c.1123C>A r.(?) p.(Leu375Ile) g.23646744G>T - PALB2_000016 - - - - Despoina Kalfakakou
./. 1 - c.1140_1143del r.(?) p.(Ser380Argfs*43) g.23646724_23646727del - PALB2_000051 - - - - Despoina Kalfakakou
./. 1 - c.1194G>A r.(=) p.(=) g.23646673C>T - PALB2_000062 rs61755173 - - - Despoina Kalfakakou
./. 1 - c.1241G>A r.(?) p.(Arg414Gln) g.23646626C>T - PALB2_000015 - - - - Despoina Kalfakakou
./. 1 - c.1408A>G r.(?) p.(Thr470Ala) g.23646459T>C - PALB2_000056 - - - - Despoina Kalfakakou
./. 3 - c.1470C>T r.(=) p.(=) g.23646397G>A - PALB2_000039 rs45612837 - - - Despoina Kalfakakou
./. 3 - c.1544A>G r.(?) p.(Lys515Arg) g.23646323T>C - PALB2_000014 - - - - Despoina Kalfakakou
./. 9 - c.1572A>G r.(=) p.(=) g.23646295T>C - PALB2_000006 rs45472400 - - - Despoina Kalfakakou
./. 1 - c.1606C>T r.(=) p.(=) g.23646261G>A - PALB2_000055 - - - - Despoina Kalfakakou
./. 1 - c.1652A>G r.(?) p.(Tyr551Cys) g.23646215T>C - PALB2_000011 - - - - Despoina Kalfakakou
./. 1 - c.1684+6del r.(=) p.(=) g.23646177del - PALB2_000071 - - - - Despoina Kalfakakou
./. 3 - c.1684+39_1684+41del r.(=) p.(=) g.23646142_23646144del - PALB2_000013 - - - - Despoina Kalfakakou
./. 21 - c.1684+41_1684+42insTGA r.(=) p.(=) g.23646141_23646142insTCA - PALB2_000005 - - - - Despoina Kalfakakou
./. 1 - c.1743A>G r.(=) p.(=) g.23641732T>C - PALB2_000032 - - - - Despoina Kalfakakou
./. 1 - c.1767G>A r.(=) p.(=) g.23641708C>T - PALB2_000047 - - - - Despoina Kalfakakou
./. 1 - c.1810C>T r.(=) p.(=) g.23641665G>A - PALB2_000068 - - - - Despoina Kalfakakou
./. 1 - c.1898A>G r.(?) p.(Lys633Arg) g.23641577T>C - PALB2_000060 - - - - Despoina Kalfakakou
./. 1 - c.1939C>T r.(?) p.(His647Tyr) g.23641536G>A - PALB2_000050 - - - - Despoina Kalfakakou
./. 1 - c.2031T>C r.(=) p.(=) g.23641444A>G - PALB2_000038 - - - - Despoina Kalfakakou
./. 1 - c.2067G>A r.(=) p.(=) g.23641408C>T - PALB2_000069 - - - - Despoina Kalfakakou
./. 1 - c.2135C>T r.(?) p.(Ala712Val) g.23641340G>A - PALB2_000053 - - - - Despoina Kalfakakou
./. 1 - c.2136G>A r.(=) p.(=) g.23641339C>T - PALB2_000058 - - - - Despoina Kalfakakou
./. 1 - c.2188A>G r.(?) p.(Ile730Val) g.23641287T>C - PALB2_000028 - - - - Despoina Kalfakakou
./. 3 - c.2257C>T r.(?) p.(Arg753*) g.23641218G>A - PALB2_000012 - - - - Despoina Kalfakakou
./. 3 - c.2379C>T r.(=) p.(=) g.23641096G>A - PALB2_000031 - - - - Despoina Kalfakakou
./. 2 - c.2431C>T r.(?) p.(Pro811Ser) g.23641044G>A - PALB2_000030 - - - - Despoina Kalfakakou
./. 1 - c.2505C>T r.(=) p.(=) g.23640970G>A - PALB2_000035 - - - - Despoina Kalfakakou
./. 1 - c.2506G>A r.(?) p.(Val836Ile) g.23640969C>T - PALB2_000070 - - - - Despoina Kalfakakou
./. 1 - c.2508C>G r.(=) p.(=) g.23640967G>C - PALB2_000049 - - - - Despoina Kalfakakou
./. 1 - c.2515-46A>G r.(=) p.(=) g.23640642T>C - PALB2_000046 - - - - Despoina Kalfakakou
./. 1 - c.2515-39A>G r.(=) p.(=) g.23640635T>C - PALB2_000037 - - - - Despoina Kalfakakou
./. 21 - c.2587-38C>G r.(=) p.(=) g.23637756G>C - PALB2_000004 - - - - Despoina Kalfakakou
./. 14 - c.2590C>T r.(?) p.(Pro864Ser) g.23637715G>A - PALB2_000027 rs45568339 - - - Despoina Kalfakakou
./. 1 - c.2607C>T r.(=) p.(=) g.23637698G>A - PALB2_000064 rs45542234 - - - Despoina Kalfakakou
./. 1 - c.2612A>G r.(?) p.(Asp871Gly) g.23637693T>C - PALB2_000036 - - - - Despoina Kalfakakou
./. 1 - c.2656T>C r.(?) p.(Cys886Arg) g.23637649A>G - PALB2_000026 - - - - Despoina Kalfakakou
./. 4 - c.2747_2748+4del r.spl? p.? g.23637553_23637558del - PALB2_000025 - - - - Despoina Kalfakakou
./. 1 - c.2749-50del r.(=) p.(=) g.23635465del - PALB2_000059 - - - - Despoina Kalfakakou
./. 6 - c.2792T>G r.(?) p.(Leu931Arg) g.23635372A>C - PALB2_000003 - - - - Despoina Kalfakakou
./. 15 - c.2794G>A r.(?) p.(Val932Met) g.23635370C>T - PALB2_000002 rs45624036 - - - Despoina Kalfakakou
./. 3 - c.2816T>G r.(?) p.(Leu939Trp) g.23635348A>C - PALB2_000048 rs45478192 - - - Despoina Kalfakakou
./. 1 - c.2834+18A>T r.(=) p.(=) g.23635312T>A - PALB2_000041 - - - - Despoina Kalfakakou
./. 1 - c.2849C>T r.(?) p.(Ser950Phe) g.23634437G>A - PALB2_000029 - - - - Despoina Kalfakakou
./. 1 - c.2869A>C r.(?) p.(Lys957Gln) g.23634417T>G - PALB2_000001 - - - - Despoina Kalfakakou
./. 1 - c.2949C>T r.(=) p.(=) g.23634337G>A - PALB2_000057 - - - - Despoina Kalfakakou
./. 27 - c.2996+17T>C r.(=) p.(=) g.23634273A>G - PALB2_000009 - - - - Despoina Kalfakakou
./. 1 - c.3024C>T r.(=) p.(=) g.23632772G>A - PALB2_000034 - - - - Despoina Kalfakakou
./. 1 - c.3113+34T>C r.(=) p.(=) g.23632649A>G - PALB2_000040 - - - - Despoina Kalfakakou
./. 1 - c.3114-3A>G r.spl? p.? g.23625415T>C - PALB2_000072 - - - - Despoina Kalfakakou
./. 1 - c.3202-17T>G r.(=) p.(=) g.23619350A>C - PALB2_000044 - - - - Despoina Kalfakakou
./. 1 - c.3255_3256insG r.(?) p.(Arg1086Alafs*11) g.23619279_23619280insC - PALB2_000008 - - - - Despoina Kalfakakou
./. 2 - c.3256C>T r.(?) p.(Arg1086*) g.23619279G>A - PALB2_000024 - - - - Despoina Kalfakakou
./. 1 - c.3278T>C r.(?) p.(Ile1093Thr) g.23619257A>G - PALB2_000033 rs45616636 - - - Despoina Kalfakakou
./. 3 - c.3296C>G r.(?) p.(Thr1099Arg) g.23619239G>C - PALB2_000023 - - - - Despoina Kalfakakou
./. 3 - c.3351-41G>A r.(=) p.(=) g.23615031C>T - PALB2_000010 - - - - Despoina Kalfakakou
./. 5 - c.3428T>A r.(?) p.(Leu1143His) g.23614913A>T - PALB2_000022 rs62625284 - - - Despoina Kalfakakou
./. 1 - c.3432C>T r.(=) p.(=) g.23614909G>A - PALB2_000042 - - - - Despoina Kalfakakou
./. 1 - c.3447C>T r.(=) p.(=) g.23614894G>A - PALB2_000052 - - - - Despoina Kalfakakou
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