Full data view for gene POLH

Information The variants shown are described using the NM_006502.2 transcript reference sequence.

114 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.-4-14A>C r.(=) p.(=) g.43550039A>C Copied from the Exome Variant Server POLH_000001 1/13006 0/8600 1/4406 - - - - - - -
?/? c.80C>T r.(?) p.(Pro27Leu) g.43550136C>T Copied from the Exome Variant Server POLH_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90G>T r.(?) p.(Arg30Ser) g.43550146G>T Copied from the Exome Variant Server POLH_000003 1/13006 0/8600 1/4406 - - - - - - -
?/? c.102T>G r.(?) p.(Cys34Trp) g.43550158T>G Copied from the Exome Variant Server POLH_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.137+16A>T r.(=) p.(=) g.43550209A>T Copied from the Exome Variant Server POLH_000006 199/13006 0/8600 199/4406 - - - - - - -
?/? c.138-19_138-18insT r.(=) p.(=) g.43550725_43550726insT Copied from the Exome Variant Server POLH_000008 5/12518 2/8254 3/4264 - - - - - - -
?/? c.210G>T r.(?) p.(Lys70Asn) g.43550816G>T Copied from the Exome Variant Server POLH_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.229C>T r.(=) p.(=) g.43550835C>T Copied from the Exome Variant Server POLH_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.232G>A r.(?) p.(Ala78Thr) g.43550838G>A Copied from the Exome Variant Server POLH_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.241C>T r.(?) p.(Arg81Cys) g.43550847C>T Copied from the Exome Variant Server POLH_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.242G>A r.(?) p.(Arg81His) g.43550848G>A Copied from the Exome Variant Server POLH_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.272+4A>G r.spl? p.? g.43550882A>G Copied from the Exome Variant Server POLH_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.272+7A>G r.(=) p.(=) g.43550885A>G Copied from the Exome Variant Server POLH_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.272+39C>A r.(=) p.(=) g.43550917C>A Copied from the Exome Variant Server POLH_000024 9/13006 1/8600 8/4406 - - - - - - -
?/? c.273-39C>T r.(=) p.(=) g.43554970C>T Copied from the Exome Variant Server POLH_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.273-32T>C r.(=) p.(=) g.43554977T>C Copied from the Exome Variant Server POLH_000028 316/13006 5/8600 311/4406 - - - - - - -
?/? c.273-5C>A r.spl? p.? g.43555004C>A Copied from the Exome Variant Server POLH_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.319G>C r.(?) p.(Ala107Pro) g.43555055G>C Copied from the Exome Variant Server POLH_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.331C>T r.(?) p.(Arg111Cys) g.43555067C>T Copied from the Exome Variant Server POLH_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.355G>T r.(?) p.(Val119Leu) g.43555091G>T Copied from the Exome Variant Server POLH_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.413C>T r.(?) p.(Ser138Leu) g.43555149C>T Copied from the Exome Variant Server POLH_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.437A>G r.(?) p.(Tyr146Cys) g.43555173A>G Copied from the Exome Variant Server POLH_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.447G>T r.(=) p.(=) g.43555183G>T Copied from the Exome Variant Server POLH_000015 83/13006 0/8600 83/4406 - - - - - - -
?/? c.458G>A r.(?) p.(Gly153Asp) g.43555194G>A Copied from the Exome Variant Server POLH_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.466A>G r.(?) p.(Thr156Ala) g.43555202A>G Copied from the Exome Variant Server POLH_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.467C>T r.(?) p.(Thr156Met) g.43555203C>T Copied from the Exome Variant Server POLH_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.490+12G>A r.(=) p.(=) g.43555238G>A Copied from the Exome Variant Server POLH_000023 3/13006 0/8600 3/4406 - - - - - - -
?/? c.491-31T>C r.(=) p.(=) g.43565402T>C Copied from the Exome Variant Server POLH_000025 5/13006 0/8600 5/4406 - - - - - - -
?/? c.491-14_491-11del r.(=) p.(=) g.43565419_43565422del Copied from the Exome Variant Server POLH_000027 1/12518 0/8254 1/4264 - - - - - - -
?/? c.491-4T>G r.spl? p.? g.43565429T>G Copied from the Exome Variant Server POLH_000031 4/13006 4/8600 0/4406 - - - - - - -
?/? c.525C>T r.(=) p.(=) g.43565467C>T Copied from the Exome Variant Server POLH_000033 3/13006 3/8600 0/4406 - - - - - - -
?/? c.562C>T r.(=) p.(=) g.43565504C>T Copied from the Exome Variant Server POLH_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.43565515C>T Copied from the Exome Variant Server POLH_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.626G>T r.(?) p.(Gly209Val) g.43565568G>T Copied from the Exome Variant Server POLH_000039 29/13006 29/8600 0/4406 - - - - - - -
?/? c.652C>A r.(?) p.(His218Asn) g.43565594C>A Copied from the Exome Variant Server POLH_000041 3/13006 0/8600 3/4406 - - - - - - -
?/? c.661-43T>C r.(=) p.(=) g.43568682T>C Copied from the Exome Variant Server POLH_000043 16/13006 14/8600 2/4406 - - - - - - -
?/? c.661-17_661-16insCTTTGCAT r.(=) p.(=) g.43568708_43568709insCTTTGCAT Copied from the Exome Variant Server POLH_000045 5/12518 5/8254 0/4264 - - - - - - -
?/? c.661-10A>C r.(=) p.(=) g.43568715A>C Copied from the Exome Variant Server POLH_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.719A>G r.(?) p.(His240Arg) g.43568783A>G Copied from the Exome Variant Server POLH_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.738C>T r.(=) p.(=) g.43568802C>T Copied from the Exome Variant Server POLH_000052 5/13006 4/8600 1/4406 - - - - - - -
?/? c.750G>T r.(?) p.(Met250Ile) g.43568814G>T Copied from the Exome Variant Server POLH_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.765-38G>A r.(=) p.(=) g.43571591G>A Copied from the Exome Variant Server POLH_000055 369/13006 8/8600 361/4406 - - - - - - -
?/? c.765-37A>G r.(=) p.(=) g.43571592A>G Copied from the Exome Variant Server POLH_000029 19/13006 3/8600 16/4406 - - - - - - -
?/? c.815T>C r.(?) p.(Ile272Thr) g.43571679T>C Copied from the Exome Variant Server POLH_000032 7/13006 5/8600 2/4406 - - - - - - -
?/? c.884+12_884+13insT r.(=) p.(=) g.43571760_43571761insT Copied from the Exome Variant Server POLH_000034 37/12516 14/8252 23/4264 - - - - - - -
?/? c.884+21A>T r.(=) p.(=) g.43571769A>T Copied from the Exome Variant Server POLH_000036 401/13006 14/8600 387/4406 - - - - - - -
?/? c.884+36A>G r.(=) p.(=) g.43571784A>G Copied from the Exome Variant Server POLH_000038 2/13006 0/8600 2/4406 - - - - - - -
?/? c.884+40A>C r.(=) p.(=) g.43571788A>C Copied from the Exome Variant Server POLH_000040 35/13006 0/8600 35/4406 - - - - - - -
?/? c.885-37T>A r.(=) p.(=) g.43572315T>A Copied from the Exome Variant Server POLH_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.885-22C>T r.(=) p.(=) g.43572330C>T Copied from the Exome Variant Server POLH_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.902T>C r.(?) p.(Met301Thr) g.43572369T>C Copied from the Exome Variant Server POLH_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.986C>T r.(?) p.(Thr329Ile) g.43572453C>T Copied from the Exome Variant Server POLH_000048 71/13006 2/8600 69/4406 - - - - - - -
?/? c.1000C>G r.(?) p.(Arg334Gly) g.43572467C>G Copied from the Exome Variant Server POLH_000049 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1008+20A>G r.(=) p.(=) g.43572495A>G Copied from the Exome Variant Server POLH_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1008+28A>G r.(=) p.(=) g.43572503A>G Copied from the Exome Variant Server POLH_000054 44/13006 0/8600 44/4406 - - - - - - -
?/? c.1009-42C>T r.(=) p.(=) g.43572949C>T Copied from the Exome Variant Server POLH_000056 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1009-41G>A r.(=) p.(=) g.43572950G>A Copied from the Exome Variant Server POLH_000057 89/13004 79/8600 10/4404 - - - - - - -
?/? c.1009-37G>A r.(=) p.(=) g.43572954G>A Copied from the Exome Variant Server POLH_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1024T>C r.(=) p.(=) g.43573006T>C Copied from the Exome Variant Server POLH_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1074+11C>A r.(=) p.(=) g.43573067C>A Copied from the Exome Variant Server POLH_000060 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1074+28G>T r.(=) p.(=) g.43573084G>T Copied from the Exome Variant Server POLH_000061 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1074+46A>C r.(=) p.(=) g.43573102A>C Copied from the Exome Variant Server POLH_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1074+47T>C r.(=) p.(=) g.43573103T>C Copied from the Exome Variant Server POLH_000063 12/13006 0/8600 12/4406 - - - - - - -
?/? c.1111C>T r.(?) p.(Arg371Cys) g.43578327C>T Copied from the Exome Variant Server POLH_000064 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1163C>A r.(?) p.(Thr388Asn) g.43578379C>A Copied from the Exome Variant Server POLH_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1181A>G r.(?) p.(Lys394Arg) g.43578397A>G Copied from the Exome Variant Server POLH_000066 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1234C>A r.(?) p.(Gln412Lys) g.43578450C>A Copied from the Exome Variant Server POLH_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1244+45T>C r.(=) p.(=) g.43578505T>C Copied from the Exome Variant Server POLH_000068 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1245-31T>C r.(=) p.(=) g.43581366T>C Copied from the Exome Variant Server POLH_000069 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1245-6G>A r.(=) p.(=) g.43581391G>A Copied from the Exome Variant Server POLH_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1247_1249del r.(?) p.(Pro418del) g.43581399_43581401del Copied from the Exome Variant Server POLH_000071 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1286T>C r.(?) p.(Phe429Ser) g.43581438T>C Copied from the Exome Variant Server POLH_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1292C>T r.(?) p.(Ala431Val) g.43581444C>T Copied from the Exome Variant Server POLH_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1299C>A r.(=) p.(=) g.43581451C>A Copied from the Exome Variant Server POLH_000074 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1318A>G r.(?) p.(Ile440Val) g.43581470A>G Copied from the Exome Variant Server POLH_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1391A>G r.(?) p.(Gln464Arg) g.43581543A>G Copied from the Exome Variant Server POLH_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1406C>T r.(?) p.(Ala469Val) g.43581558C>T Copied from the Exome Variant Server POLH_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1418C>T r.(?) p.(Thr473Ile) g.43581570C>T Copied from the Exome Variant Server POLH_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1433C>T r.(?) p.(Thr478Met) g.43581585C>T Copied from the Exome Variant Server POLH_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1434G>A r.(=) p.(=) g.43581586G>A Copied from the Exome Variant Server POLH_000080 724/13006 262/8600 462/4406 - - - - - - -
?/? c.1473G>A r.(=) p.(=) g.43581625G>A Copied from the Exome Variant Server POLH_000081 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1491G>A r.(=) p.(=) g.43581643G>A Copied from the Exome Variant Server POLH_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1505C>T r.(?) p.(Thr502Ile) g.43581657C>T Copied from the Exome Variant Server POLH_000085 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1572A>C r.(?) p.(Gln524His) g.43581724A>C Copied from the Exome Variant Server POLH_000087 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1603A>G r.(?) p.(Lys535Glu) g.43581755A>G Copied from the Exome Variant Server POLH_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1615del r.(?) p.(Leu539*) g.43581767del Copied from the Exome Variant Server POLH_000091 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1641T>G r.(=) p.(=) g.43581793T>G Copied from the Exome Variant Server POLH_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1656C>G r.(=) p.(=) g.43581808C>G Copied from the Exome Variant Server POLH_000095 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1718G>A r.(?) p.(Gly573Glu) g.43581870G>A Copied from the Exome Variant Server POLH_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1745C>T r.(?) p.(Ser582Leu) g.43581897C>T Copied from the Exome Variant Server POLH_000099 13/13006 0/8600 13/4406 - - - - - - -
?/? c.1751T>C r.(?) p.(Leu584Pro) g.43581903T>C Copied from the Exome Variant Server POLH_000100 205/13006 0/8600 205/4406 - - - - - - -
?/? c.1783A>G r.(?) p.(Met595Val) g.43581935A>G Copied from the Exome Variant Server POLH_000102 303/13006 278/8600 25/4406 - - - - - - -
?/? c.1797C>A r.(?) p.(His599Gln) g.43581949C>A Copied from the Exome Variant Server POLH_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1862C>T r.(?) p.(Thr621Ile) g.43582014C>T Copied from the Exome Variant Server POLH_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1881A>T r.(=) p.(=) g.43582033A>T Copied from the Exome Variant Server POLH_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1896A>C r.(?) p.(Gln632His) g.43582048A>C Copied from the Exome Variant Server POLH_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1929G>A r.(=) p.(=) g.43582081G>A Copied from the Exome Variant Server POLH_000090 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1939A>T r.(?) p.(Met647Leu) g.43582091A>T Copied from the Exome Variant Server POLH_000092 1608/13006 265/8600 1343/4406 - - - - - - -
?/? c.1965T>C r.(=) p.(=) g.43582117T>C Copied from the Exome Variant Server POLH_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1990T>C r.(=) p.(=) g.43582142T>C Copied from the Exome Variant Server POLH_000096 2/13006 2/8600 0/4406 - - - - - - -
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