Full data view for gene POLK

Information The variants shown are described using the NM_016218.2 transcript reference sequence.

121 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-13-18A>G r.(=) p.(=) g.74842817A>G Copied from the Exome Variant Server POLK_000001 3/13006 3/8600 0/4406 - - - - - - -
?/? c.-13-9C>T r.(=) p.(=) g.74842826C>T Copied from the Exome Variant Server POLK_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.38A>G r.(?) p.(Asp13Gly) g.74842885A>G Copied from the Exome Variant Server POLK_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.85G>A r.(?) p.(Glu29Lys) g.74842932G>A Copied from the Exome Variant Server POLK_000004 19/13006 17/8600 2/4406 - - - - - - -
?/? c.121A>G r.(?) p.(Met41Val) g.74842968A>G Copied from the Exome Variant Server POLK_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.135+3A>G r.spl? p.? g.74842985A>G Copied from the Exome Variant Server POLK_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.135+28G>A r.(=) p.(=) g.74843010G>A Copied from the Exome Variant Server POLK_000007 1/13004 1/8598 0/4406 - - - - - - -
?/? c.136-39A>G r.(=) p.(=) g.74848258A>G Copied from the Exome Variant Server POLK_000008 1/13002 1/8598 0/4404 - - - - - - -
?/? c.137G>A r.(?) p.(Gly46Glu) g.74848298G>A Copied from the Exome Variant Server POLK_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.166_172del r.(?) p.(Lys56Serfs*10) g.74848327_74848333del Copied from the Exome Variant Server POLK_000010 2/12520 2/8254 0/4266 - - - - - - -
?/? c.186A>T r.(?) p.(Gln62His) g.74848347A>T Copied from the Exome Variant Server POLK_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.253C>A r.(?) p.(Gln85Lys) g.74848414C>A Copied from the Exome Variant Server POLK_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.255+43G>C r.(=) p.(=) g.74848459G>C Copied from the Exome Variant Server POLK_000014 3/13006 0/8600 3/4406 - - - - - - -
?/? c.255+52A>G r.(=) p.(=) g.74848468A>G Copied from the Exome Variant Server POLK_000017 11/7272 10/4618 1/2654 - - - - - - -
?/? c.268G>A r.(?) p.(Ala90Thr) g.74865177G>A Copied from the Exome Variant Server POLK_000019 2/13006 1/8600 1/4406 - - - - - - -
?/? c.288C>T r.(=) p.(=) g.74865197C>T Copied from the Exome Variant Server POLK_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.361C>A r.(?) p.(Pro121Thr) g.74865270C>A Copied from the Exome Variant Server POLK_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.380C>T r.(?) p.(Pro127Leu) g.74865289C>T Copied from the Exome Variant Server POLK_000025 2/13006 0/8600 2/4406 - - - - - - -
?/? c.408+38C>T r.(=) p.(=) g.74865355C>T Copied from the Exome Variant Server POLK_000027 44/13006 39/8600 5/4406 - - - - - - -
?/? c.408+39G>A r.(=) p.(=) g.74865356G>A Copied from the Exome Variant Server POLK_000013 3/13006 0/8600 3/4406 - - - - - - -
?/? c.409-45A>C r.(=) p.(=) g.74869518A>C Copied from the Exome Variant Server POLK_000015 1/13004 1/8598 0/4406 - - - - - - -
?/? c.409-37T>C r.(=) p.(=) g.74869526T>C Copied from the Exome Variant Server POLK_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.409-16G>A r.(=) p.(=) g.74869547G>A Copied from the Exome Variant Server POLK_000018 2/13006 0/8600 2/4406 - - - - - - -
?/? c.505C>A r.(?) p.(Pro169Thr) g.74869659C>A Copied from the Exome Variant Server POLK_000020 3/13004 3/8598 0/4406 - - - - - - -
?/? c.507C>A r.(=) p.(=) g.74869661C>A Copied from the Exome Variant Server POLK_000022 14/13004 1/8598 13/4406 - - - - - - -
?/? c.539A>G r.(?) p.(Glu180Gly) g.74869693A>G Copied from the Exome Variant Server POLK_000024 1/13004 1/8598 0/4406 - - - - - - -
?/? c.575T>G r.(?) p.(Phe192Cys) g.74872639T>G Copied from the Exome Variant Server POLK_000026 1/13002 1/8596 0/4406 - - - - - - -
?/? c.592G>A r.(?) p.(Asp198Asn) g.74872656G>A Copied from the Exome Variant Server POLK_000028 1/13002 1/8596 0/4406 - - - - - - -
?/? c.601T>A r.(?) p.(Tyr201Asn) g.74872665T>A Copied from the Exome Variant Server POLK_000029 1/13002 1/8596 0/4406 - - - - - - -
?/? c.602A>G r.(?) p.(Tyr201Cys) g.74872666A>G Copied from the Exome Variant Server POLK_000030 1/13002 0/8596 1/4406 - - - - - - -
?/? c.604T>A r.(?) p.(Leu202Met) g.74872668T>A Copied from the Exome Variant Server POLK_000031 1/13002 1/8596 0/4406 - - - - - - -
?/? c.670A>G r.(?) p.(Lys224Glu) g.74872734A>G Copied from the Exome Variant Server POLK_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.681C>T r.(=) p.(=) g.74872745C>T Copied from the Exome Variant Server POLK_000033 14/13006 1/8600 13/4406 - - - - - - -
?/? c.694+40del r.(=) p.(=) g.74872798del Copied from the Exome Variant Server POLK_000035 1236/12366 811/8192 425/4174 - - - - - - -
?/? c.694+40dup r.(=) p.(=) g.74872798dup Copied from the Exome Variant Server POLK_000034 836/12366 564/8192 272/4174 - - - - - - -
?/? c.694+50_694+51insAC r.(=) p.(=) g.74872808_74872809insAC Copied from the Exome Variant Server POLK_000036 270/12414 168/8210 102/4204 - - - - - - -
?/? c.696T>C r.(=) p.(=) g.74877035T>C Copied from the Exome Variant Server POLK_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.751C>G r.(?) p.(Leu251Val) g.74877090C>G Copied from the Exome Variant Server POLK_000038 1/13006 0/8600 1/4406 - - - - - - -
?/? c.811T>G r.(?) p.(Phe271Val) g.74877150T>G Copied from the Exome Variant Server POLK_000039 2/13006 2/8600 0/4406 - - - - - - -
?/? c.813T>C r.(=) p.(=) g.74877152T>C Copied from the Exome Variant Server POLK_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.846C>G r.(?) p.(Asn282Lys) g.74877185C>G Copied from the Exome Variant Server POLK_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.855T>G r.(=) p.(=) g.74877194T>G Copied from the Exome Variant Server POLK_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.874G>A r.(?) p.(Glu292Lys) g.74877213G>A Copied from the Exome Variant Server POLK_000043 5/13006 2/8600 3/4406 - - - - - - -
?/? c.893G>A r.(?) p.(Arg298His) g.74877232G>A Copied from the Exome Variant Server POLK_000044 6/13006 5/8600 1/4406 - - - - - - -
?/? c.903T>C r.(=) p.(=) g.74877242T>C Copied from the Exome Variant Server POLK_000045 4/13006 0/8600 4/4406 - - - - - - -
?/? c.927C>T r.(=) p.(=) g.74877266C>T Copied from the Exome Variant Server POLK_000046 2761/13004 1792/8600 969/4404 - - - - - - -
?/? c.934+13G>A r.(=) p.(=) g.74877286G>A Copied from the Exome Variant Server POLK_000047 212/12998 1/8600 211/4398 - - - - - - -
?/? c.934+35T>C r.(=) p.(=) g.74877308T>C Copied from the Exome Variant Server POLK_000048 189/12890 1/8566 188/4324 - - - - - - -
?/? c.935-31C>G r.(=) p.(=) g.74879087C>G Copied from the Exome Variant Server POLK_000049 4/13000 3/8594 1/4406 - - - - - - -
?/? c.935-7del r.(=) p.(=) g.74879111del Copied from the Exome Variant Server POLK_000050 30/12514 15/8248 15/4266 - - - - - - -
?/? c.936C>G r.(=) p.(=) g.74879119C>G Copied from the Exome Variant Server POLK_000051 1/13000 1/8594 0/4406 - - - - - - -
?/? c.952A>G r.(?) p.(Met318Val) g.74879135A>G Copied from the Exome Variant Server POLK_000052 1/13000 0/8594 1/4406 - - - - - - -
?/? c.953T>C r.(?) p.(Met318Thr) g.74879136T>C Copied from the Exome Variant Server POLK_000053 1/12998 1/8592 0/4406 - - - - - - -
?/? c.1060-48T>C r.(=) p.(=) g.74880537T>C Copied from the Exome Variant Server POLK_000054 1/12504 1/8334 0/4170 - - - - - - -
?/? c.1060-41A>G r.(=) p.(=) g.74880544A>G Copied from the Exome Variant Server POLK_000055 16/12610 1/8406 15/4204 - - - - - - -
?/? c.1170A>G r.(=) p.(=) g.74880695A>G Copied from the Exome Variant Server POLK_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1208G>A r.(?) p.(Gly403Asp) g.74880733G>A Copied from the Exome Variant Server POLK_000057 9/13006 9/8600 0/4406 - - - - - - -
?/? c.1218C>T r.(=) p.(=) g.74880743C>T Copied from the Exome Variant Server POLK_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1227-38G>A r.(=) p.(=) g.74882813G>A Copied from the Exome Variant Server POLK_000059 1/12932 0/8552 1/4380 - - - - - - -
?/? c.1240del r.(?) p.(Ser415Valfs*2) g.74882864del Copied from the Exome Variant Server POLK_000060 13/12472 10/8220 3/4252 - - - - - - -
?/? c.1252G>A r.(?) p.(Val418Ile) g.74882876G>A Copied from the Exome Variant Server POLK_000061 1/12964 1/8572 0/4392 - - - - - - -
?/? c.1259+18A>T r.(=) p.(=) g.74882901A>T Copied from the Exome Variant Server POLK_000062 1/12956 0/8568 1/4388 - - - - - - -
?/? c.1259+39A>T r.(=) p.(=) g.74882922A>T Copied from the Exome Variant Server POLK_000063 1/12940 0/8558 1/4382 - - - - - - -
?/? c.1260-25G>A r.(=) p.(=) g.74886144G>A Copied from the Exome Variant Server POLK_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1267A>C r.(?) p.(Ser423Arg) g.74886176A>C Copied from the Exome Variant Server POLK_000067 84/13006 2/8600 82/4406 - - - - - - -
?/? c.1275A>C r.(=) p.(=) g.74886184A>C Copied from the Exome Variant Server POLK_000069 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1315T>C r.(?) p.(Cys439Arg) g.74886224T>C Copied from the Exome Variant Server POLK_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1322A>G r.(?) p.(Glu441Gly) g.74886231A>G Copied from the Exome Variant Server POLK_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1338A>G r.(=) p.(=) g.74886247A>G Copied from the Exome Variant Server POLK_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1356+29_1356+31del r.(=) p.(=) g.74886294_74886296del Copied from the Exome Variant Server POLK_000064 830/12520 757/8254 73/4266 - - - - - - -
?/? c.1356+49A>T r.(=) p.(=) g.74886314A>T Copied from the Exome Variant Server POLK_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1357-14T>C r.(=) p.(=) g.74889689T>C Copied from the Exome Variant Server POLK_000068 1/12996 0/8596 1/4400 - - - - - - -
?/? c.1413A>G r.(=) p.(=) g.74889759A>G Copied from the Exome Variant Server POLK_000070 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1424C>G r.(?) p.(Ser475*) g.74889770C>G Copied from the Exome Variant Server POLK_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1524T>C r.(=) p.(=) g.74889870T>C Copied from the Exome Variant Server POLK_000074 9/13004 8/8600 1/4404 - - - - - - -
?/? c.1528+25T>C r.(=) p.(=) g.74889899T>C Copied from the Exome Variant Server POLK_000076 4/13004 4/8600 0/4404 - - - - - - -
?/? c.1528+34A>G r.(=) p.(=) g.74889908A>G Copied from the Exome Variant Server POLK_000077 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1529-50G>A r.(=) p.(=) g.74891997G>A Copied from the Exome Variant Server POLK_000078 10/13000 1/8600 9/4400 - - - - - - -
?/? c.1529-45T>C r.(=) p.(=) g.74892002T>C Copied from the Exome Variant Server POLK_000079 1587/13002 1127/8600 460/4402 - - - - - - -
?/? c.1534C>T r.(?) p.(Arg512Trp) g.74892052C>T Copied from the Exome Variant Server POLK_000080 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1535G>A r.(?) p.(Arg512Gln) g.74892053G>A Copied from the Exome Variant Server POLK_000081 2/13002 2/8600 0/4402 - - - - - - -
?/? c.1563C>T r.(=) p.(=) g.74892081C>T Copied from the Exome Variant Server POLK_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1573C>A r.(?) p.(Gln525Lys) g.74892091C>A Copied from the Exome Variant Server POLK_000083 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1582A>C r.(?) p.(Ser528Arg) g.74892100A>C Copied from the Exome Variant Server POLK_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1585A>G r.(?) p.(Ile529Val) g.74892103A>G Copied from the Exome Variant Server POLK_000085 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1711A>G r.(?) p.(Lys571Glu) g.74892229A>G Copied from the Exome Variant Server POLK_000086 2/12984 0/8594 2/4390 - - - - - - -
?/? c.1714C>T r.(?) p.(Arg572*) g.74892232C>T Copied from the Exome Variant Server POLK_000087 2/12984 2/8594 0/4390 - - - - - - -
?/? c.1715G>T r.(?) p.(Arg572Leu) g.74892233G>T Copied from the Exome Variant Server POLK_000088 1/12986 1/8594 0/4392 - - - - - - -
?/? c.1723A>G r.(?) p.(Arg575Gly) g.74892241A>G Copied from the Exome Variant Server POLK_000089 2/12990 2/8598 0/4392 - - - - - - -
?/? c.1761C>T r.(=) p.(=) g.74892279C>T Copied from the Exome Variant Server POLK_000090 2/13002 1/8600 1/4402 - - - - - - -
?/? c.1762G>A r.(?) p.(Val588Met) g.74892280G>A Copied from the Exome Variant Server POLK_000091 2/13002 2/8600 0/4402 - - - - - - -
?/? c.1794A>G r.(=) p.(=) g.74892312A>G Copied from the Exome Variant Server POLK_000092 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1807_1809del r.(?) p.(Lys605del) g.74892325_74892327del Copied from the Exome Variant Server POLK_000093 3/12514 1/8250 2/4264 - - - - - - -
?/? c.1818G>C r.(?) p.(Met606Ile) g.74892336G>C Copied from the Exome Variant Server POLK_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1834A>G r.(?) p.(Ile612Val) g.74892352A>G Copied from the Exome Variant Server POLK_000095 14/13006 1/8600 13/4406 - - - - - - -
?/? c.1838C>A r.(?) p.(Ser613*) g.74892356C>A Copied from the Exome Variant Server POLK_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1904G>A r.(?) p.(Ser635Asn) g.74892422G>A Copied from the Exome Variant Server POLK_000097 21/13006 0/8600 21/4406 - - - - - - -
?/? c.1958G>C r.(?) p.(Ser653Thr) g.74892476G>C Copied from the Exome Variant Server POLK_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1980G>A r.(=) p.(=) g.74892498G>A Copied from the Exome Variant Server POLK_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2005G>A r.(?) p.(Val669Ile) g.74892523G>A Copied from the Exome Variant Server POLK_000100 1/13004 0/8598 1/4406 - - - - - - -
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