Full data view for gene POLA1

Information The variants shown are described using the NM_016937.3 transcript reference sequence.

194 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.25+29A>G r.(=) p.(=) g.24712132A>G Copied from the Exome Variant Server POLA1_000001 1/10495 1/6681 0/3814 - - - - - - -
?/? c.25+42G>A r.(=) p.(=) g.24712145G>A Copied from the Exome Variant Server POLA1_000002 1/10434 1/6637 0/3797 - - - - - - -
?/? c.25+47C>T r.(=) p.(=) g.24712150C>T Copied from the Exome Variant Server POLA1_000003 1/10405 0/6619 1/3786 - - - - - - -
?/? c.91C>A r.(?) p.(Arg31Ser) g.24717607C>A Copied from the Exome Variant Server POLA1_000004 5/10561 0/6726 5/3835 - - - - - - -
?/? c.92G>A r.(?) p.(Arg31His) g.24717608G>A Copied from the Exome Variant Server POLA1_000005 2/10561 0/6726 2/3835 - - - - - - -
?/? c.135G>A r.(=) p.(=) g.24717651G>A Copied from the Exome Variant Server POLA1_000006 1/10560 1/6726 0/3834 - - - - - - -
?/? c.217C>T r.(?) p.(Arg73Cys) g.24721434C>T Copied from the Exome Variant Server POLA1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.248-50A>T r.(=) p.(=) g.24722456A>T Copied from the Exome Variant Server POLA1_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.248-36G>A r.(=) p.(=) g.24722470G>A Copied from the Exome Variant Server POLA1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.300A>G r.(=) p.(=) g.24722558A>G Copied from the Exome Variant Server POLA1_000010 2/10563 0/6728 2/3835 - - - - - - -
?/? c.303T>C r.(=) p.(=) g.24722561T>C Copied from the Exome Variant Server POLA1_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.343G>A r.(?) p.(Ala115Thr) g.24732685G>A Copied from the Exome Variant Server POLA1_000012 2/10560 2/6726 0/3834 - - - - - - -
?/? c.346C>T r.(?) p.(Arg116Cys) g.24732688C>T Copied from the Exome Variant Server POLA1_000013 1/10560 1/6726 0/3834 - - - - - - -
?/? c.365A>G r.(?) p.(Asn122Ser) g.24732707A>G Copied from the Exome Variant Server POLA1_000014 1/10561 0/6728 1/3833 - - - - - - -
?/? c.378C>T r.(=) p.(=) g.24732720C>T Copied from the Exome Variant Server POLA1_000015 1/10559 0/6726 1/3833 - - - - - - -
?/? c.393G>A r.(=) p.(=) g.24732735G>A Copied from the Exome Variant Server POLA1_000016 2/10560 0/6726 2/3834 - - - - - - -
?/? c.459G>A r.(=) p.(=) g.24733272G>A Copied from the Exome Variant Server POLA1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.508-13C>T r.(=) p.(=) g.24734466C>T Copied from the Exome Variant Server POLA1_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.508-3_508-2insA r.spl? p.? g.24734476_24734477insA Copied from the Exome Variant Server POLA1_000019 1/10205 1/6484 0/3721 - - - - - - -
?/? c.510A>G r.(=) p.(=) g.24734481A>G Copied from the Exome Variant Server POLA1_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.511C>T r.(?) p.(Pro171Ser) g.24734482C>T Copied from the Exome Variant Server POLA1_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.521C>A r.(?) p.(Thr174Asn) g.24734492C>A Copied from the Exome Variant Server POLA1_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.539T>C r.(?) p.(Ile180Thr) g.24734510T>C Copied from the Exome Variant Server POLA1_000023 28/10563 0/6728 28/3835 - - - - - - -
?/? c.570A>G r.(=) p.(=) g.24734541A>G Copied from the Exome Variant Server POLA1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.572C>T r.(?) p.(Pro191Leu) g.24734543C>T Copied from the Exome Variant Server POLA1_000025 1/10563 0/6728 1/3835 - - - - - - -
?/? c.599C>T r.(?) p.(Thr200Met) g.24734570C>T Copied from the Exome Variant Server POLA1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.600+21T>A r.(=) p.(=) g.24734592T>A Copied from the Exome Variant Server POLA1_000027 2/10563 2/6728 0/3835 - - - - - - -
?/? c.600+25A>G r.(=) p.(=) g.24734596A>G Copied from the Exome Variant Server POLA1_000028 13/10563 0/6728 13/3835 - - - - - - -
?/? c.601-37T>C r.(=) p.(=) g.24734964T>C Copied from the Exome Variant Server POLA1_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.604G>T r.(?) p.(Val202Phe) g.24735004G>T Copied from the Exome Variant Server POLA1_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.660T>C r.(=) p.(=) g.24735060T>C Copied from the Exome Variant Server POLA1_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.688+30A>G r.(=) p.(=) g.24735118A>G Copied from the Exome Variant Server POLA1_000032 2/10563 2/6728 0/3835 - - - - - - -
?/? c.689-43C>G r.(=) p.(=) g.24735364C>G Copied from the Exome Variant Server POLA1_000033 4/10563 4/6728 0/3835 - - - - - - -
?/? c.689-29A>G r.(=) p.(=) g.24735378A>G Copied from the Exome Variant Server POLA1_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.689-28T>G r.(=) p.(=) g.24735379T>G Copied from the Exome Variant Server POLA1_000035 2/10563 2/6728 0/3835 - - - - - - -
?/? c.689-10A>G r.(=) p.(=) g.24735397A>G Copied from the Exome Variant Server POLA1_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.689-8G>C r.(=) p.(=) g.24735399G>C Copied from the Exome Variant Server POLA1_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.702G>A r.(=) p.(=) g.24735420G>A Copied from the Exome Variant Server POLA1_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.703G>T r.(?) p.(Val235Phe) g.24735421G>T Copied from the Exome Variant Server POLA1_000039 1/10563 1/6728 0/3835 - - - - - - -
?/? c.760T>C r.(?) p.(Phe254Leu) g.24735478T>C Copied from the Exome Variant Server POLA1_000040 1/10563 1/6728 0/3835 - - - - - - -
?/? c.923A>G r.(?) p.(Asp308Gly) g.24735729A>G Copied from the Exome Variant Server POLA1_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.928G>A r.(?) p.(Asp310Asn) g.24735734G>A Copied from the Exome Variant Server POLA1_000042 2/10563 1/6728 1/3835 - - - - - - -
?/? c.959A>G r.(?) p.(Gln320Arg) g.24735765A>G Copied from the Exome Variant Server POLA1_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.994G>A r.(?) p.(Val332Ile) g.24735800G>A Copied from the Exome Variant Server POLA1_000044 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1003G>T r.(?) p.(Ala335Ser) g.24735809G>T Copied from the Exome Variant Server POLA1_000045 5/10563 5/6728 0/3835 - - - - - - -
?/? c.1042G>A r.(?) p.(Ala348Thr) g.24735848G>A Copied from the Exome Variant Server POLA1_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1070-23G>A r.(=) p.(=) g.24741249G>A Copied from the Exome Variant Server POLA1_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1110C>T r.(=) p.(=) g.24741312C>T Copied from the Exome Variant Server POLA1_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1122G>T r.(=) p.(=) g.24741324G>T Copied from the Exome Variant Server POLA1_000049 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1149C>T r.(=) p.(=) g.24741351C>T Copied from the Exome Variant Server POLA1_000050 287/10563 1/6728 286/3835 - - - - - - -
?/? c.1182+13G>A r.(=) p.(=) g.24741397G>A Copied from the Exome Variant Server POLA1_000051 95/10563 3/6728 92/3835 - - - - - - -
?/? c.1182+35G>A r.(=) p.(=) g.24741419G>A Copied from the Exome Variant Server POLA1_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1183-37del r.(=) p.(=) g.24742415del Copied from the Exome Variant Server POLA1_000053 75/10194 41/6477 34/3717 - - - - - - -
?/? c.1183-29del r.(=) p.(=) g.24742423del Copied from the Exome Variant Server POLA1_000055 12/10198 11/6479 1/3719 - - - - - - -
?/? c.1183-29dup r.(=) p.(=) g.24742423dup Copied from the Exome Variant Server POLA1_000054 1/10198 1/6479 0/3719 - - - - - - -
?/? c.1199C>T r.(?) p.(Thr400Met) g.24742468C>T Copied from the Exome Variant Server POLA1_000056 2/10560 2/6725 0/3835 - - - - - - -
?/? c.1203G>C r.(=) p.(=) g.24742472G>C Copied from the Exome Variant Server POLA1_000057 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1214G>A r.(?) p.(Gly405Glu) g.24742483G>A Copied from the Exome Variant Server POLA1_000058 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1267A>G r.(?) p.(Thr423Ala) g.24742536A>G Copied from the Exome Variant Server POLA1_000059 1/10559 1/6724 0/3835 - - - - - - -
?/? c.1275T>C r.(=) p.(=) g.24742544T>C Copied from the Exome Variant Server POLA1_000060 1/10559 1/6724 0/3835 - - - - - - -
?/? c.1300-28G>A r.(=) p.(=) g.24744070G>A Copied from the Exome Variant Server POLA1_000061 3/10560 3/6725 0/3835 - - - - - - -
?/? c.1300-10A>G r.(=) p.(=) g.24744088A>G Copied from the Exome Variant Server POLA1_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1344A>G r.(=) p.(=) g.24744142A>G Copied from the Exome Variant Server POLA1_000063 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1375-21_1375-20del r.(=) p.(=) g.24745029_24745030del Copied from the Exome Variant Server POLA1_000064 153/10174 117/6469 36/3705 - - - - - - -
?/? c.1375-20del r.(=) p.(=) g.24745030del Copied from the Exome Variant Server POLA1_000066 1139/10174 739/6469 400/3705 - - - - - - -
?/? c.1375-20dup r.(=) p.(=) g.24745030dup Copied from the Exome Variant Server POLA1_000065 480/10174 325/6469 155/3705 - - - - - - -
?/? c.1485A>G r.(=) p.(=) g.24745160A>G Copied from the Exome Variant Server POLA1_000067 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1486C>T r.(?) p.(Pro496Ser) g.24745161C>T Copied from the Exome Variant Server POLA1_000068 7/10563 6/6728 1/3835 - - - - - - -
?/? c.1491T>C r.(=) p.(=) g.24745166T>C Copied from the Exome Variant Server POLA1_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1503A>T r.(=) p.(=) g.24745178A>T Copied from the Exome Variant Server POLA1_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1513+33A>G r.(=) p.(=) g.24745221A>G Copied from the Exome Variant Server POLA1_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1514-12A>G r.(=) p.(=) g.24745887A>G Copied from the Exome Variant Server POLA1_000072 117/10563 91/6728 26/3835 - - - - - - -
?/? c.1516C>G r.(?) p.(Leu506Val) g.24745901C>G Copied from the Exome Variant Server POLA1_000073 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1643A>G r.(?) p.(Gln548Arg) g.24746028A>G Copied from the Exome Variant Server POLA1_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1668+30A>G r.(=) p.(=) g.24746083A>G Copied from the Exome Variant Server POLA1_000075 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1669-38C>T r.(=) p.(=) g.24750449C>T Copied from the Exome Variant Server POLA1_000076 2/10562 1/6727 1/3835 - - - - - - -
?/? c.1669-15C>T r.(=) p.(=) g.24750472C>T Copied from the Exome Variant Server POLA1_000077 45/10563 45/6728 0/3835 - - - - - - -
?/? c.1683_1684insG r.(?) p.(Ala562Glyfs*11) g.24750501_24750502insG Copied from the Exome Variant Server POLA1_000078 44/10205 30/6484 14/3721 - - - - - - -
?/? c.1753+53_1753+54insT r.(=) p.(=) g.24750624_24750625insT Copied from the Exome Variant Server POLA1_000079 4/10200 0/6482 4/3718 - - - - - - -
?/? c.1771G>A r.(?) p.(Asp591Asn) g.24751889G>A Copied from the Exome Variant Server POLA1_000080 2/10560 0/6725 2/3835 - - - - - - -
?/? c.1775G>A r.(?) p.(Cys592Tyr) g.24751893G>A Copied from the Exome Variant Server POLA1_000081 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1815+27_1815+30del r.(=) p.(=) g.24751960_24751963del Copied from the Exome Variant Server POLA1_000082 14/10188 2/6476 12/3712 - - - - - - -
?/? c.1815+46A>C r.(=) p.(=) g.24751979A>C Copied from the Exome Variant Server POLA1_000083 4/10543 0/6720 4/3823 - - - - - - -
?/? c.1816-28C>T r.(=) p.(=) g.24753488C>T Copied from the Exome Variant Server POLA1_000084 9/10563 9/6728 0/3835 - - - - - - -
?/? c.1816-10_1816-9insA r.(=) p.(=) g.24753506_24753507insA Copied from the Exome Variant Server POLA1_000085 1/10205 0/6484 1/3721 - - - - - - -
?/? c.1842A>G r.(=) p.(=) g.24753542A>G Copied from the Exome Variant Server POLA1_000086 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1939C>G r.(?) p.(Leu647Val) g.24755775C>G Copied from the Exome Variant Server POLA1_000087 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1992A>G r.(=) p.(=) g.24755828A>G Copied from the Exome Variant Server POLA1_000088 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2124G>T r.(=) p.(=) g.24757593G>T Copied from the Exome Variant Server POLA1_000089 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2198+42_2198+44del r.(=) p.(=) g.24757709_24757711del Copied from the Exome Variant Server POLA1_000090 1/10192 0/6479 1/3713 - - - - - - -
?/? c.2199-17C>T r.(=) p.(=) g.24759475C>T Copied from the Exome Variant Server POLA1_000091 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2218T>C r.(?) p.(Tyr740His) g.24759511T>C Copied from the Exome Variant Server POLA1_000092 16/10563 13/6728 3/3835 - - - - - - -
?/? c.2249A>G r.(?) p.(Lys750Arg) g.24759542A>G Copied from the Exome Variant Server POLA1_000093 42/10563 36/6728 6/3835 - - - - - - -
?/? c.2271T>C r.(=) p.(=) g.24759564T>C Copied from the Exome Variant Server POLA1_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2319G>C r.(=) p.(=) g.24759612G>C Copied from the Exome Variant Server POLA1_000095 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2330C>T r.(?) p.(Ser777Phe) g.24760120C>T Copied from the Exome Variant Server POLA1_000096 3/10562 0/6727 3/3835 - - - - - - -
?/? c.2448+39_2448+40insT r.(=) p.(=) g.24760277_24760278insT Copied from the Exome Variant Server POLA1_000097 1/10202 1/6484 0/3718 - - - - - - -
?/? c.2448+42C>G r.(=) p.(=) g.24760280C>G Copied from the Exome Variant Server POLA1_000098 1/10560 1/6727 0/3833 - - - - - - -
?/? c.2448+45C>A r.(=) p.(=) g.24760283C>A Copied from the Exome Variant Server POLA1_000099 1/10558 1/6727 0/3831 - - - - - - -
?/? c.2448+46C>G r.(=) p.(=) g.24760284C>G Copied from the Exome Variant Server POLA1_000100 3/10557 0/6725 3/3832 - - - - - - -
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