All transcript variants in gene PRRC2C

Information The variants shown are described using the NM_015172.3 transcript reference sequence.

351 entries on 4 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.-32G>C r.(=) p.(=) g.171481196G>C Copied from the Exome Variant Server PRRC2C_000001 1/12932 0/8546 1/4386
?/? c.77A>T r.(?) p.(Tyr26Phe) g.171481304A>T Copied from the Exome Variant Server PRRC2C_000002 1/13006 1/8600 0/4406
?/? c.90A>G r.(=) p.(=) g.171481317A>G Copied from the Exome Variant Server PRRC2C_000003 14/13000 0/8596 14/4404
?/? c.112+20A>G r.(=) p.(=) g.171481359A>G Copied from the Exome Variant Server PRRC2C_000004 1/12950 1/8562 0/4388
?/? c.112+25T>C r.(=) p.(=) g.171481364T>C Copied from the Exome Variant Server PRRC2C_000005 5/12946 4/8558 1/4388
?/? c.112+51A>T r.(=) p.(=) g.171481390A>T Copied from the Exome Variant Server PRRC2C_000006 1/7272 0/4618 1/2654
?/? c.113-17T>C r.(=) p.(=) g.171482123T>C Copied from the Exome Variant Server PRRC2C_000007 3/13006 2/8600 1/4406
?/? c.113-15G>T r.(=) p.(=) g.171482125G>T Copied from the Exome Variant Server PRRC2C_000008 1/13006 0/8600 1/4406
?/? c.144C>T r.(=) p.(=) g.171482171C>T Copied from the Exome Variant Server PRRC2C_000009 10/13006 10/8600 0/4406
?/? c.209A>G r.(?) p.(Asn70Ser) g.171482236A>G Copied from the Exome Variant Server PRRC2C_000010 1/13006 1/8600 0/4406
?/? c.238G>T r.(?) p.(Asp80Tyr) g.171482265G>T Copied from the Exome Variant Server PRRC2C_000011 1/13006 0/8600 1/4406
?/? c.255A>G r.(=) p.(=) g.171482282A>G Copied from the Exome Variant Server PRRC2C_000012 1/13006 0/8600 1/4406
?/? c.284+15G>A r.(=) p.(=) g.171482326G>A Copied from the Exome Variant Server PRRC2C_000013 1/13006 0/8600 1/4406
?/? c.285-36A>G r.(=) p.(=) g.171483639A>G Copied from the Exome Variant Server PRRC2C_000014 1/12184 0/8028 1/4156
?/? c.285-12del r.(=) p.(=) g.171483663del Copied from the Exome Variant Server PRRC2C_000015 166/12232 85/8056 81/4176
?/? c.290C>G r.(?) p.(Pro97Arg) g.171483680C>G Copied from the Exome Variant Server PRRC2C_000016 1/12908 1/8542 0/4366
?/? c.304G>A r.(?) p.(Ala102Thr) g.171483694G>A Copied from the Exome Variant Server PRRC2C_000017 3/12942 0/8554 3/4388
?/? c.327A>C r.(=) p.(=) g.171483717A>C Copied from the Exome Variant Server PRRC2C_000018 1846/12938 1331/8554 515/4384
?/? c.328G>T r.(?) p.(Ala110Ser) g.171483718G>T Copied from the Exome Variant Server PRRC2C_000019 77/12938 3/8554 74/4384
?/? c.335C>G r.(?) p.(Pro112Arg) g.171483725C>G Copied from the Exome Variant Server PRRC2C_000020 2/12954 0/8562 2/4392
?/? c.343G>A r.(?) p.(Ala115Thr) g.171483733G>A Copied from the Exome Variant Server PRRC2C_000021 2/12964 2/8574 0/4390
?/? c.360A>C r.(=) p.(=) g.171483750A>C Copied from the Exome Variant Server PRRC2C_000022 1/12960 1/8570 0/4390
?/? c.364G>T r.(?) p.(Ala122Ser) g.171483754G>T Copied from the Exome Variant Server PRRC2C_000023 1/12942 1/8556 0/4386
?/? c.394+21G>A r.(=) p.(=) g.171483805G>A Copied from the Exome Variant Server PRRC2C_000024 23/12732 21/8412 2/4320
?/? c.394+33G>A r.(=) p.(=) g.171483817G>A Copied from the Exome Variant Server PRRC2C_000025 1/12634 0/8338 1/4296
?/? c.394+47G>C r.(=) p.(=) g.171483831G>C Copied from the Exome Variant Server PRRC2C_000026 1/12458 1/8198 0/4260
?/? c.394+47_394+51del r.(=) p.(=) g.171483831_171483835del Copied from the Exome Variant Server PRRC2C_000027 3/11930 0/7826 3/4104
?/? c.395-15_395-14insA r.(=) p.(=) g.171484858_171484859insA Copied from the Exome Variant Server PRRC2C_000028 25/12426 0/8208 25/4218
?/? c.395-6C>A r.(=) p.(=) g.171484867C>A Copied from the Exome Variant Server PRRC2C_000029 1/12988 0/8592 1/4396
?/? c.395-4A>G r.spl? p.? g.171484869A>G Copied from the Exome Variant Server PRRC2C_000030 1/12998 1/8596 0/4402
?/? c.401A>G r.(?) p.(Gln134Arg) g.171484879A>G Copied from the Exome Variant Server PRRC2C_000031 1/13006 0/8600 1/4406
?/? c.418C>G r.(?) p.(Gln140Glu) g.171484896C>G Copied from the Exome Variant Server PRRC2C_000032 1/13006 1/8600 0/4406
?/? c.432C>T r.(=) p.(=) g.171484910C>T Copied from the Exome Variant Server PRRC2C_000033 1/13006 0/8600 1/4406
?/? c.512G>A r.(?) p.(Arg171His) g.171484990G>A Copied from the Exome Variant Server PRRC2C_000034 1/13006 1/8600 0/4406
?/? c.520A>G r.(?) p.(Asn174Asp) g.171484998A>G Copied from the Exome Variant Server PRRC2C_000035 1/13006 0/8600 1/4406
?/? c.520+18T>C r.(=) p.(=) g.171485016T>C Copied from the Exome Variant Server PRRC2C_000036 1/13006 0/8600 1/4406
?/? c.520+32del r.(=) p.(=) g.171485030del Copied from the Exome Variant Server PRRC2C_000037 52/12518 1/8254 51/4264
?/? c.619A>G r.(?) p.(Thr207Ala) g.171486828A>G Copied from the Exome Variant Server PRRC2C_000038 1/13006 0/8600 1/4406
?/? c.660G>A r.(=) p.(=) g.171486869G>A Copied from the Exome Variant Server PRRC2C_000039 1/13006 1/8600 0/4406
?/? c.676C>T r.(?) p.(Pro226Ser) g.171486885C>T Copied from the Exome Variant Server PRRC2C_000040 1/13006 1/8600 0/4406
?/? c.692A>G r.(?) p.(Asn231Ser) g.171486901A>G Copied from the Exome Variant Server PRRC2C_000041 1/13006 0/8600 1/4406
?/? c.703G>A r.(?) p.(Ala235Thr) g.171486912G>A Copied from the Exome Variant Server PRRC2C_000042 1480/13006 1150/8600 330/4406
?/? c.730A>G r.(?) p.(Met244Val) g.171486939A>G Copied from the Exome Variant Server PRRC2C_000043 1/13006 1/8600 0/4406
?/? c.730_732del r.(?) p.(Met245del) g.171486939_171486941del Copied from the Exome Variant Server PRRC2C_000045 1/12520 1/8254 0/4266
?/? c.732G>T r.(?) p.(Met244Ile) g.171486941G>T Copied from the Exome Variant Server PRRC2C_000047 2/13006 0/8600 2/4406
?/? c.739C>G r.(?) p.(Pro247Ala) g.171486948C>G Copied from the Exome Variant Server PRRC2C_000049 3/13006 3/8600 0/4406
?/? c.744+7A>G r.(=) p.(=) g.171486960A>G Copied from the Exome Variant Server PRRC2C_000051 1/13006 1/8600 0/4406
?/? c.744+44G>C r.(=) p.(=) g.171486997G>C Copied from the Exome Variant Server PRRC2C_000053 1/13004 1/8600 0/4404
?/? c.771A>G r.(=) p.(=) g.171491342A>G Copied from the Exome Variant Server PRRC2C_000055 1/13006 1/8600 0/4406
?/? c.827+27G>A r.(=) p.(=) g.171491425G>A Copied from the Exome Variant Server PRRC2C_000057 1/13004 1/8598 0/4406
?/? c.828-41C>T r.(=) p.(=) g.171492319C>T Copied from the Exome Variant Server PRRC2C_000044 3/13002 0/8596 3/4406
?/? c.828-31T>C r.(=) p.(=) g.171492329T>C Copied from the Exome Variant Server PRRC2C_000046 1/13006 1/8600 0/4406
?/? c.828-5A>G r.spl? p.? g.171492355A>G Copied from the Exome Variant Server PRRC2C_000048 1/13006 0/8600 1/4406
?/? c.867T>C r.(=) p.(=) g.171492399T>C Copied from the Exome Variant Server PRRC2C_000050 1/13006 0/8600 1/4406
?/? c.897A>G r.(=) p.(=) g.171492429A>G Copied from the Exome Variant Server PRRC2C_000052 2/13006 0/8600 2/4406
?/? c.969G>A r.(=) p.(=) g.171492581G>A Copied from the Exome Variant Server PRRC2C_000054 1/13006 0/8600 1/4406
?/? c.1025G>A r.(?) p.(Ser342Asn) g.171492637G>A Copied from the Exome Variant Server PRRC2C_000056 1/13006 0/8600 1/4406
?/? c.1029C>G r.(?) p.(Asn343Lys) g.171492641C>G Copied from the Exome Variant Server PRRC2C_000058 5/13006 5/8600 0/4406
?/? c.1049+51A>G r.(=) p.(=) g.171492712A>G Copied from the Exome Variant Server PRRC2C_000059 1/7262 0/4608 1/2654
?/? c.1050-29T>C r.(=) p.(=) g.171493931T>C Copied from the Exome Variant Server PRRC2C_000060 1/12950 0/8560 1/4390
?/? c.1054G>A r.(?) p.(Asp352Asn) g.171493964G>A Copied from the Exome Variant Server PRRC2C_000061 1/13000 1/8594 0/4406
?/? c.1057C>A r.(?) p.(Gln353Lys) g.171493967C>A Copied from the Exome Variant Server PRRC2C_000062 1/13002 0/8596 1/4406
?/? c.1080del r.(?) p.(Asn360Lysfs*26) g.171493990del Copied from the Exome Variant Server PRRC2C_000063 1/12516 0/8250 1/4266
?/? c.1110T>C r.(=) p.(=) g.171494020T>C Copied from the Exome Variant Server PRRC2C_000064 1/13006 1/8600 0/4406
?/? c.1133A>G r.(?) p.(Gln378Arg) g.171494043A>G Copied from the Exome Variant Server PRRC2C_000065 1/13006 0/8600 1/4406
?/? c.1141G>C r.(?) p.(Ala381Pro) g.171494051G>C Copied from the Exome Variant Server PRRC2C_000066 1/13006 0/8600 1/4406
?/? c.1169A>G r.(?) p.(Tyr390Cys) g.171494079A>G Copied from the Exome Variant Server PRRC2C_000067 1/13006 0/8600 1/4406
?/? c.1194+13C>A r.(=) p.(=) g.171494117C>A Copied from the Exome Variant Server PRRC2C_000068 35/13006 1/8600 34/4406
?/? c.1195-55A>G r.(=) p.(=) g.171496875A>G Copied from the Exome Variant Server PRRC2C_000069 563/4566 534/3182 29/1384
?/? c.1195-46G>C r.(=) p.(=) g.171496884G>C Copied from the Exome Variant Server PRRC2C_000070 2/12850 0/8486 2/4364
?/? c.1195-35A>G r.(=) p.(=) g.171496895A>G Copied from the Exome Variant Server PRRC2C_000071 10369/12928 6964/8542 3405/4386
?/? c.1195-2A>G r.spl? p.? g.171496928A>G Copied from the Exome Variant Server PRRC2C_000072 3/12996 3/8592 0/4404
?/? c.1208C>T r.(?) p.(Ser403Phe) g.171496943C>T Copied from the Exome Variant Server PRRC2C_000073 1/13004 0/8598 1/4406
?/? c.1216C>G r.(?) p.(Leu406Val) g.171496951C>G Copied from the Exome Variant Server PRRC2C_000074 1/13004 1/8598 0/4406
?/? c.1231A>G r.(?) p.(Lys411Glu) g.171496966A>G Copied from the Exome Variant Server PRRC2C_000075 1/13002 1/8596 0/4406
?/? c.1233G>A r.(=) p.(=) g.171496968G>A Copied from the Exome Variant Server PRRC2C_000076 47/13002 4/8596 43/4406
?/? c.1248+16T>A r.(=) p.(=) g.171496999T>A Copied from the Exome Variant Server PRRC2C_000077 1/12994 1/8590 0/4404
?/? c.1248+34del r.(=) p.(=) g.171497017del Copied from the Exome Variant Server PRRC2C_000078 1/12458 0/8212 1/4246
?/? c.1248+39_1248+40del r.(=) p.(=) g.171497022_171497023del Copied from the Exome Variant Server PRRC2C_000079 70/12444 3/8200 67/4244
?/? c.1248+71_1248+72insT r.(=) p.(=) g.171497054_171497055insT Copied from the Exome Variant Server PRRC2C_000080 12/11846 11/7786 1/4060
?/? c.1249-22A>C r.(=) p.(=) g.171501460A>C Copied from the Exome Variant Server PRRC2C_000081 1/13006 1/8600 0/4406
?/? c.1249-14C>A r.(=) p.(=) g.171501468C>A Copied from the Exome Variant Server PRRC2C_000082 1/13006 1/8600 0/4406
?/? c.1289G>A r.(?) p.(Gly430Asp) g.171501522G>A Copied from the Exome Variant Server PRRC2C_000083 1/13006 1/8600 0/4406
?/? c.1302C>G r.(=) p.(=) g.171501535C>G Copied from the Exome Variant Server PRRC2C_000084 1/13006 1/8600 0/4406
?/? c.1370C>G r.(?) p.(Ala457Gly) g.171501603C>G Copied from the Exome Variant Server PRRC2C_000085 10/13006 10/8600 0/4406
?/? c.1500T>G r.(=) p.(=) g.171501733T>G Copied from the Exome Variant Server PRRC2C_000086 1/12944 1/8552 0/4392
?/? c.1509A>G r.(=) p.(=) g.171501742A>G Copied from the Exome Variant Server PRRC2C_000087 2/12894 2/8524 0/4370
?/? c.1519A>G r.(?) p.(Arg507Gly) g.171501752A>G Copied from the Exome Variant Server PRRC2C_000088 2/12860 2/8506 0/4354
?/? c.1543C>T r.(?) p.(Arg515Cys) g.171501776C>T Copied from the Exome Variant Server PRRC2C_000089 2/12578 2/8302 0/4276
?/? c.1544G>A r.(?) p.(Arg515His) g.171501777G>A Copied from the Exome Variant Server PRRC2C_000090 3/12540 0/8274 3/4266
?/? c.1555C>T r.(?) p.(Leu519Phe) g.171501788C>T Copied from the Exome Variant Server PRRC2C_000091 2/12344 1/8132 1/4212
?/? c.1571A>C r.(?) p.(Glu524Ala) g.171501804A>C Copied from the Exome Variant Server PRRC2C_000092 1/12152 0/8002 1/4150
?/? c.1688_1690del r.(?) p.(Glu564del) g.171501921_171501923del Copied from the Exome Variant Server PRRC2C_000093 7/12350 5/8152 2/4198
?/? c.1694_1696del r.(?) p.(Glu566del) g.171501927_171501929del Copied from the Exome Variant Server PRRC2C_000094 20/12400 6/8178 14/4222
?/? c.1705C>T r.(?) p.(Arg569Trp) g.171501938C>T Copied from the Exome Variant Server PRRC2C_000096 3/12948 0/8562 3/4386
?/? c.1809A>C r.(?) p.(Arg603Ser) g.171502042A>C Copied from the Exome Variant Server PRRC2C_000098 3/13006 0/8600 3/4406
?/? c.1867+10T>C r.(=) p.(=) g.171502110T>C Copied from the Exome Variant Server PRRC2C_000100 2/12998 2/8592 0/4406
?/? c.1867+12_1867+14del r.(=) p.(=) g.171502112_171502114del Copied from the Exome Variant Server PRRC2C_000102 1/12506 1/8242 0/4264
?/? c.1867+18A>T r.(=) p.(=) g.171502118A>T Copied from the Exome Variant Server PRRC2C_000103 2/12998 0/8592 2/4406
?/? c.1867+36T>C r.(=) p.(=) g.171502136T>C Copied from the Exome Variant Server PRRC2C_000105 66/12974 1/8574 65/4400
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