All transcript variants in gene POLA2

Information The variants shown are described using the NM_002689.2 transcript reference sequence.

132 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     
?/? c.-46G>T r.(=) p.(=) g.65029718G>T Copied from the Exome Variant Server POLA2_000001 2/12884 0/8532 2/4352
?/? c.-18C>T r.(=) p.(=) g.65029746C>T Copied from the Exome Variant Server POLA2_000002 1/12974 1/8582 0/4392
?/? c.-14T>C r.(=) p.(=) g.65029750T>C Copied from the Exome Variant Server POLA2_000003 3/12974 0/8582 3/4392
?/? c.13G>T r.(?) p.(Ala5Ser) g.65029776G>T Copied from the Exome Variant Server POLA2_000004 4/12992 4/8592 0/4400
?/? c.14C>T r.(?) p.(Ala5Val) g.65029777C>T Copied from the Exome Variant Server POLA2_000005 2/12992 0/8592 2/4400
?/? c.67C>G r.(?) p.(Leu23Val) g.65029830C>G Copied from the Exome Variant Server POLA2_000006 1/12996 1/8594 0/4402
?/? c.69A>G r.(=) p.(=) g.65029832A>G Copied from the Exome Variant Server POLA2_000007 1/12996 0/8594 1/4402
?/? c.79+9C>T r.(=) p.(=) g.65029851C>T Copied from the Exome Variant Server POLA2_000008 1/12992 0/8592 1/4400
?/? c.79+21G>T r.(=) p.(=) g.65029863G>T Copied from the Exome Variant Server POLA2_000009 1/12992 1/8592 0/4400
?/? c.80-46C>T r.(=) p.(=) g.65034007C>T Copied from the Exome Variant Server POLA2_000010 6/12996 0/8594 6/4402
?/? c.80-28T>C r.(=) p.(=) g.65034025T>C Copied from the Exome Variant Server POLA2_000011 1/12996 0/8594 1/4402
?/? c.102T>C r.(=) p.(=) g.65034075T>C Copied from the Exome Variant Server POLA2_000012 1/12996 1/8594 0/4402
?/? c.126A>G r.(=) p.(=) g.65034099A>G Copied from the Exome Variant Server POLA2_000013 2/12996 0/8594 2/4402
?/? c.132G>A r.(=) p.(=) g.65034105G>A Copied from the Exome Variant Server POLA2_000014 1/12996 1/8594 0/4402
?/? c.140C>G r.(?) p.(Ala47Gly) g.65034113C>G Copied from the Exome Variant Server POLA2_000015 1/12996 1/8594 0/4402
?/? c.167G>T r.(?) p.(Gly56Val) g.65034140G>T Copied from the Exome Variant Server POLA2_000016 1/12996 0/8594 1/4402
?/? c.204+23C>T r.(=) p.(=) g.65034200C>T Copied from the Exome Variant Server POLA2_000017 1/12996 1/8594 0/4402
?/? c.204+50C>G r.(=) p.(=) g.65034227C>G Copied from the Exome Variant Server POLA2_000018 1/12996 1/8594 0/4402
?/? c.205-26T>C r.(=) p.(=) g.65034922T>C Copied from the Exome Variant Server POLA2_000019 1/12996 0/8594 1/4402
?/? c.210G>C r.(=) p.(=) g.65034953G>C Copied from the Exome Variant Server POLA2_000020 2/12996 2/8594 0/4402
?/? c.211A>G r.(?) p.(Ser71Gly) g.65034954A>G Copied from the Exome Variant Server POLA2_000021 7/12996 2/8594 5/4402
?/? c.231C>T r.(=) p.(=) g.65034974C>T Copied from the Exome Variant Server POLA2_000022 3/12996 2/8594 1/4402
?/? c.296+34C>T r.(=) p.(=) g.65035073C>T Copied from the Exome Variant Server POLA2_000023 3/12996 3/8594 0/4402
?/? c.296+40G>A r.(=) p.(=) g.65035079G>A Copied from the Exome Variant Server POLA2_000024 145/12996 0/8594 145/4402
?/? c.301G>A r.(?) p.(Glu101Lys) g.65036147G>A Copied from the Exome Variant Server POLA2_000025 2/12996 0/8594 2/4402
?/? c.313G>A r.(?) p.(Glu105Lys) g.65036159G>A Copied from the Exome Variant Server POLA2_000026 1/12996 1/8594 0/4402
?/? c.355-42G>A r.(=) p.(=) g.65043321G>A Copied from the Exome Variant Server POLA2_000027 182/12996 168/8594 14/4402
?/? c.355-15_355-14insT r.(=) p.(=) g.65043348_65043349insT Copied from the Exome Variant Server POLA2_000028 32/12518 4/8254 28/4264
?/? c.355-6del r.(=) p.(=) g.65043357del Copied from the Exome Variant Server POLA2_000029 28/12518 18/8254 10/4264
?/? c.355-4C>G r.spl? p.? g.65043359C>G Copied from the Exome Variant Server POLA2_000030 1/12996 0/8594 1/4402
?/? c.368G>A r.(?) p.(Arg123Gln) g.65043376G>A Copied from the Exome Variant Server POLA2_000031 1/12996 0/8594 1/4402
?/? c.371C>A r.(?) p.(Ala124Asp) g.65043379C>A Copied from the Exome Variant Server POLA2_000032 1/12996 0/8594 1/4402
?/? c.415A>G r.(?) p.(Thr139Ala) g.65043423A>G Copied from the Exome Variant Server POLA2_000033 1/12996 0/8594 1/4402
?/? c.416C>T r.(?) p.(Thr139Ile) g.65043424C>T Copied from the Exome Variant Server POLA2_000034 1/12996 0/8594 1/4402
?/? c.444G>A r.(=) p.(=) g.65043452G>A Copied from the Exome Variant Server POLA2_000035 1/12996 1/8594 0/4402
?/? c.461+1G>A r.spl? p.? g.65043470G>A Copied from the Exome Variant Server POLA2_000036 1/12996 1/8594 0/4402
?/? c.471C>T r.(=) p.(=) g.65046210C>T Copied from the Exome Variant Server POLA2_000037 1/12996 1/8594 0/4402
?/? c.500G>A r.(?) p.(Arg167Gln) g.65046239G>A Copied from the Exome Variant Server POLA2_000038 1/12996 1/8594 0/4402
?/? c.523G>A r.(?) p.(Gly175Ser) g.65046262G>A Copied from the Exome Variant Server POLA2_000039 4/12996 4/8594 0/4402
?/? c.538G>A r.(?) p.(Val180Ile) g.65046277G>A Copied from the Exome Variant Server POLA2_000040 1/12996 1/8594 0/4402
?/? c.597A>G r.(=) p.(=) g.65046336A>G Copied from the Exome Variant Server POLA2_000041 39/12996 0/8594 39/4402
?/? c.607_610del r.(?) p.(Thr203Glyfs*17) g.65046346_65046349del Copied from the Exome Variant Server POLA2_000042 1/12518 1/8254 0/4264
?/? c.655+2_655+3insGA r.spl? p.? g.65046396_65046397insGA Copied from the Exome Variant Server POLA2_000044 1/12518 1/8254 0/4264
?/? c.656-24del r.(=) p.(=) g.65046985del Copied from the Exome Variant Server POLA2_000048 23/12518 21/8254 2/4264
?/? c.656-24dup r.(=) p.(=) g.65046985dup Copied from the Exome Variant Server POLA2_000047 3046/12518 1239/8254 1807/4264
?/? c.685A>T r.(?) p.(Ser229Cys) g.65047038A>T Copied from the Exome Variant Server POLA2_000050 1/12996 1/8594 0/4402
?/? c.687C>T r.(=) p.(=) g.65047040C>T Copied from the Exome Variant Server POLA2_000043 2/12996 2/8594 0/4402
?/? c.723T>A r.(=) p.(=) g.65047076T>A Copied from the Exome Variant Server POLA2_000045 2/12996 2/8594 0/4402
?/? c.744+39C>T r.(=) p.(=) g.65047136C>T Copied from the Exome Variant Server POLA2_000046 29/12996 0/8594 29/4402
?/? c.745-43C>T r.(=) p.(=) g.65048420C>T Copied from the Exome Variant Server POLA2_000049 1/12996 1/8594 0/4402
?/? c.745-28T>C r.(=) p.(=) g.65048435T>C Copied from the Exome Variant Server POLA2_000051 1/12996 1/8594 0/4402
?/? c.786C>T r.(=) p.(=) g.65048504C>T Copied from the Exome Variant Server POLA2_000052 2/12996 2/8594 0/4402
?/? c.796_798del r.(?) p.(Asn267del) g.65048514_65048516del Copied from the Exome Variant Server POLA2_000053 39/12518 17/8254 22/4264
?/? c.817G>A r.(?) p.(Glu273Lys) g.65048535G>A Copied from the Exome Variant Server POLA2_000054 2/12996 1/8594 1/4402
?/? c.840G>A r.(=) p.(=) g.65048558G>A Copied from the Exome Variant Server POLA2_000055 2/12996 0/8594 2/4402
?/? c.842G>T r.(?) p.(Gly281Val) g.65048560G>T Copied from the Exome Variant Server POLA2_000056 1/12996 1/8594 0/4402
?/? c.868G>A r.(?) p.(Glu290Lys) g.65048586G>A Copied from the Exome Variant Server POLA2_000057 1/12996 1/8594 0/4402
?/? c.882T>G r.(?) p.(Tyr294*) g.65048600T>G Copied from the Exome Variant Server POLA2_000058 1/12996 0/8594 1/4402
?/? c.900+5G>A r.spl? p.? g.65048623G>A Copied from the Exome Variant Server POLA2_000059 1/12996 0/8594 1/4402
?/? c.900+28del r.(=) p.(=) g.65048646del Copied from the Exome Variant Server POLA2_000060 1/12518 1/8254 0/4264
?/? c.900+33C>T r.(=) p.(=) g.65048651C>T Copied from the Exome Variant Server POLA2_000061 139/12996 1/8594 138/4402
?/? c.900+48del r.(=) p.(=) g.65048666del Copied from the Exome Variant Server POLA2_000062 1/12518 0/8254 1/4264
?/? c.901-56T>C r.(=) p.(=) g.65049085T>C Copied from the Exome Variant Server POLA2_000063 9/4566 0/3182 9/1384
?/? c.901-51G>C r.(=) p.(=) g.65049090G>C Copied from the Exome Variant Server POLA2_000064 1/12996 0/8594 1/4402
?/? c.901-49C>T r.(=) p.(=) g.65049092C>T Copied from the Exome Variant Server POLA2_000065 1/12996 0/8594 1/4402
?/? c.901-37C>T r.(=) p.(=) g.65049104C>T Copied from the Exome Variant Server POLA2_000066 1/12996 0/8594 1/4402
?/? c.957C>T r.(=) p.(=) g.65049197C>T Copied from the Exome Variant Server POLA2_000067 6/12996 5/8594 1/4402
?/? c.964-36C>T r.(=) p.(=) g.65049914C>T Copied from the Exome Variant Server POLA2_000068 4/12996 0/8594 4/4402
?/? c.964-35G>A r.(=) p.(=) g.65049915G>A Copied from the Exome Variant Server POLA2_000069 1/12996 0/8594 1/4402
?/? c.987G>A r.(=) p.(=) g.65049973G>A Copied from the Exome Variant Server POLA2_000070 4/12996 0/8594 4/4402
?/? c.1006+9C>T r.(=) p.(=) g.65050001C>T Copied from the Exome Variant Server POLA2_000071 1/12996 0/8594 1/4402
?/? c.1006+20T>C r.(=) p.(=) g.65050012T>C Copied from the Exome Variant Server POLA2_000072 1/12996 1/8594 0/4402
?/? c.1006+51G>A r.(=) p.(=) g.65050043G>A Copied from the Exome Variant Server POLA2_000073 1/12996 1/8594 0/4402
?/? c.1010T>C r.(?) p.(Phe337Ser) g.65055190T>C Copied from the Exome Variant Server POLA2_000074 2/12996 0/8594 2/4402
?/? c.1020C>T r.(=) p.(=) g.65055200C>T Copied from the Exome Variant Server POLA2_000075 1/12996 1/8594 0/4402
?/? c.1026C>T r.(=) p.(=) g.65055206C>T Copied from the Exome Variant Server POLA2_000076 1/12996 1/8594 0/4402
?/? c.1045T>C r.(?) p.(Tyr349His) g.65055225T>C Copied from the Exome Variant Server POLA2_000077 1/12996 1/8594 0/4402
?/? c.1073_1074insC r.(?) p.(Leu360Profs*3) g.65055253_65055254insC Copied from the Exome Variant Server POLA2_000078 1/12518 1/8254 0/4264
?/? c.1131+29A>G r.(=) p.(=) g.65055340A>G Copied from the Exome Variant Server POLA2_000079 20/12996 0/8594 20/4402
?/? c.1152T>C r.(=) p.(=) g.65056541T>C Copied from the Exome Variant Server POLA2_000080 1/12996 0/8594 1/4402
?/? c.1165G>A r.(?) p.(Val389Met) g.65056554G>A Copied from the Exome Variant Server POLA2_000081 2/12996 0/8594 2/4402
?/? c.1170+50G>A r.(=) p.(=) g.65056609G>A Copied from the Exome Variant Server POLA2_000082 32/12996 0/8594 32/4402
?/? c.1171-44C>G r.(=) p.(=) g.65057226C>G Copied from the Exome Variant Server POLA2_000083 9/12994 2/8594 7/4400
?/? c.1171-32C>T r.(=) p.(=) g.65057238C>T Copied from the Exome Variant Server POLA2_000084 2/12994 2/8594 0/4400
?/? c.1220G>A r.(?) p.(Arg407Gln) g.65057319G>A Copied from the Exome Variant Server POLA2_000085 3/12996 0/8594 3/4402
?/? c.1244+22C>T r.(=) p.(=) g.65057365C>T Copied from the Exome Variant Server POLA2_000086 1/12996 0/8594 1/4402
?/? c.1244+27C>G r.(=) p.(=) g.65057370C>G Copied from the Exome Variant Server POLA2_000087 1/12996 0/8594 1/4402
?/? c.1244+28C>T r.(=) p.(=) g.65057371C>T Copied from the Exome Variant Server POLA2_000088 2/12996 2/8594 0/4402
?/? c.1245-14del r.(=) p.(=) g.65061610del Copied from the Exome Variant Server POLA2_000089 25/12518 21/8254 4/4264
?/? c.1246_1247insC r.(?) p.(Gly417Argfs*16) g.65061625_65061626insC Copied from the Exome Variant Server POLA2_000090 13/12518 8/8254 5/4264
?/? c.1248C>G r.(=) p.(=) g.65061627C>G Copied from the Exome Variant Server POLA2_000091 10/12996 0/8594 10/4402
?/? c.1288C>T r.(?) p.(His430Tyr) g.65061667C>T Copied from the Exome Variant Server POLA2_000092 3/12996 0/8594 3/4402
?/? c.1300G>C r.(?) p.(Val434Leu) g.65061679G>C Copied from the Exome Variant Server POLA2_000094 5/12996 5/8594 0/4402
?/? c.1330G>A r.(?) p.(Asp444Asn) g.65061709G>A Copied from the Exome Variant Server POLA2_000096 2/12996 2/8594 0/4402
?/? c.1354-17A>G r.(=) p.(=) g.65062000A>G Copied from the Exome Variant Server POLA2_000098 2/12996 0/8594 2/4402
?/? c.1354-14C>A r.(=) p.(=) g.65062003C>A Copied from the Exome Variant Server POLA2_000100 1/12996 1/8594 0/4402
?/? c.1354-13G>A r.(=) p.(=) g.65062004G>A Copied from the Exome Variant Server POLA2_000093 2/12996 0/8594 2/4402
?/? c.1354-6T>C r.(=) p.(=) g.65062011T>C Copied from the Exome Variant Server POLA2_000095 3/12996 0/8594 3/4402
?/? c.1354-4T>C r.spl? p.? g.65062013T>C Copied from the Exome Variant Server POLA2_000097 10/12996 9/8594 1/4402
?/? c.1369T>C r.(?) p.(Ser457Pro) g.65062032T>C Copied from the Exome Variant Server POLA2_000099 1/12996 0/8594 1/4402
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