All transcript variants in gene CCAR1

Information The variants shown are described using the NM_018237.2 transcript reference sequence.

169 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.-35G>T r.(=) p.(=) g.70482227G>T Copied from the Exome Variant Server CCAR1_000001 1/13006 1/8600 0/4406
?/? c.-31A>G r.(=) p.(=) g.70482231A>G Copied from the Exome Variant Server CCAR1_000002 2/13006 2/8600 0/4406
?/? c.-24G>A r.(=) p.(=) g.70482238G>A Copied from the Exome Variant Server CCAR1_000003 229/13006 213/8600 16/4406
?/? c.-22_-21insG r.(=) p.(=) g.70482240_70482241insG Copied from the Exome Variant Server CCAR1_000004 7/12518 4/8254 3/4264
?/? c.-4C>T r.(=) p.(=) g.70482258C>T Copied from the Exome Variant Server CCAR1_000005 1/13006 1/8600 0/4406
?/? c.30G>A r.(=) p.(=) g.70482291G>A Copied from the Exome Variant Server CCAR1_000006 1/13006 0/8600 1/4406
?/? c.73+3C>T r.spl? p.? g.70482337C>T Copied from the Exome Variant Server CCAR1_000007 80/13006 0/8600 80/4406
?/? c.73+6G>C r.(=) p.(=) g.70482340G>C Copied from the Exome Variant Server CCAR1_000008 1/13006 1/8600 0/4406
?/? c.73+15T>C r.(=) p.(=) g.70482349T>C Copied from the Exome Variant Server CCAR1_000009 1/13006 1/8600 0/4406
?/? c.73+19T>C r.(=) p.(=) g.70482353T>C Copied from the Exome Variant Server CCAR1_000010 1/13006 1/8600 0/4406
?/? c.73+35G>T r.(=) p.(=) g.70482369G>T Copied from the Exome Variant Server CCAR1_000011 30/13006 0/8600 30/4406
?/? c.73+40G>T r.(=) p.(=) g.70482374G>T Copied from the Exome Variant Server CCAR1_000012 1/13006 1/8600 0/4406
?/? c.73+42A>T r.(=) p.(=) g.70482376A>T Copied from the Exome Variant Server CCAR1_000013 33/13006 0/8600 33/4406
?/? c.74-27_74-26insT r.(=) p.(=) g.70496606_70496607insT Copied from the Exome Variant Server CCAR1_000014 2/12472 2/8244 0/4228
?/? c.148G>A r.(?) p.(Ala50Thr) g.70496707G>A Copied from the Exome Variant Server CCAR1_000015 1/13006 0/8600 1/4406
?/? c.219C>T r.(=) p.(=) g.70496778C>T Copied from the Exome Variant Server CCAR1_000016 1/13006 0/8600 1/4406
?/? c.226G>A r.(?) p.(Ala76Thr) g.70496785G>A Copied from the Exome Variant Server CCAR1_000017 1/13002 0/8596 1/4406
?/? c.247-34_247-32del r.(=) p.(=) g.70497568_70497570del Copied from the Exome Variant Server CCAR1_000018 37/12422 16/8216 21/4206
?/? c.247-19del r.(=) p.(=) g.70497583del Copied from the Exome Variant Server CCAR1_000019 113/12462 81/8238 32/4224
?/? c.247-7_247-6insT r.(=) p.(=) g.70497595_70497596insT Copied from the Exome Variant Server CCAR1_000020 15/12508 0/8250 15/4258
?/? c.249A>G r.(=) p.(=) g.70497604A>G Copied from the Exome Variant Server CCAR1_000021 2/13004 2/8600 0/4404
?/? c.291+18G>T r.(=) p.(=) g.70497664G>T Copied from the Exome Variant Server CCAR1_000022 1/13006 1/8600 0/4406
?/? c.291+42G>A r.(=) p.(=) g.70497688G>A Copied from the Exome Variant Server CCAR1_000023 1/13004 1/8600 0/4404
?/? c.291+63T>C r.(=) p.(=) g.70497709T>C Copied from the Exome Variant Server CCAR1_000024 5/4566 0/3182 5/1384
?/? c.292-22G>T r.(=) p.(=) g.70500364G>T Copied from the Exome Variant Server CCAR1_000025 24/12998 0/8594 24/4404
?/? c.292-21_292-18del r.(=) p.(=) g.70500365_70500368del Copied from the Exome Variant Server CCAR1_000027 36/12510 0/8248 36/4262
?/? c.312C>T r.(=) p.(=) g.70500406C>T Copied from the Exome Variant Server CCAR1_000029 1/13004 0/8598 1/4406
?/? c.321A>C r.(=) p.(=) g.70500415A>C Copied from the Exome Variant Server CCAR1_000031 1/13004 0/8598 1/4406
?/? c.324+37A>G r.(=) p.(=) g.70500455A>G Copied from the Exome Variant Server CCAR1_000026 2/13006 0/8600 2/4406
?/? c.324+50C>G r.(=) p.(=) g.70500468C>G Copied from the Exome Variant Server CCAR1_000028 2/13004 2/8598 0/4406
?/? c.324+78C>G r.(=) p.(=) g.70500496C>G Copied from the Exome Variant Server CCAR1_000030 31/4560 0/3176 31/1384
?/? c.325-7T>C r.(=) p.(=) g.70502126T>C Copied from the Exome Variant Server CCAR1_000032 1/13006 1/8600 0/4406
?/? c.384A>T r.(=) p.(=) g.70502192A>T Copied from the Exome Variant Server CCAR1_000033 1/13006 1/8600 0/4406
?/? c.409T>G r.(?) p.(Ser137Ala) g.70502217T>G Copied from the Exome Variant Server CCAR1_000034 2/13006 0/8600 2/4406
?/? c.457G>A r.(?) p.(Val153Met) g.70502265G>A Copied from the Exome Variant Server CCAR1_000035 1/13006 1/8600 0/4406
?/? c.480G>A r.(=) p.(=) g.70502288G>A Copied from the Exome Variant Server CCAR1_000036 11460/13006 7393/8600 4067/4406
?/? c.513G>A r.(=) p.(=) g.70502321G>A Copied from the Exome Variant Server CCAR1_000037 1/13006 0/8600 1/4406
?/? c.518+36C>A r.(=) p.(=) g.70502362C>A Copied from the Exome Variant Server CCAR1_000038 1/13006 1/8600 0/4406
?/? c.519-32_519-31insT r.(=) p.(=) g.70506886_70506887insT Copied from the Exome Variant Server CCAR1_000039 4/12294 4/8182 0/4112
?/? c.519-15del r.(=) p.(=) g.70506903del Copied from the Exome Variant Server CCAR1_000041 646/12426 427/8224 219/4202
?/? c.519-15dup r.(=) p.(=) g.70506903dup Copied from the Exome Variant Server CCAR1_000040 1389/12426 1070/8224 319/4202
?/? c.519-15_519-14insTT r.(=) p.(=) g.70506903_70506904insTT Copied from the Exome Variant Server CCAR1_000042 25/12426 16/8224 9/4202
?/? c.535A>G r.(?) p.(Thr179Ala) g.70506934A>G Copied from the Exome Variant Server CCAR1_000043 1/13006 0/8600 1/4406
?/? c.572C>G r.(?) p.(Thr191Ser) g.70506971C>G Copied from the Exome Variant Server CCAR1_000044 1/13006 0/8600 1/4406
?/? c.634-41A>G r.(=) p.(=) g.70507090A>G Copied from the Exome Variant Server CCAR1_000045 1/13006 1/8600 0/4406
?/? c.634-35_634-34insT r.(=) p.(=) g.70507096_70507097insT Copied from the Exome Variant Server CCAR1_000046 2/12518 1/8254 1/4264
?/? c.634-18T>C r.(=) p.(=) g.70507113T>C Copied from the Exome Variant Server CCAR1_000047 1/13006 1/8600 0/4406
?/? c.688A>G r.(?) p.(Ile230Val) g.70507185A>G Copied from the Exome Variant Server CCAR1_000048 2/13006 2/8600 0/4406
?/? c.734A>C r.(?) p.(Gln245Pro) g.70507231A>C Copied from the Exome Variant Server CCAR1_000049 1/13006 1/8600 0/4406
?/? c.765T>A r.(=) p.(=) g.70507262T>A Copied from the Exome Variant Server CCAR1_000050 1/13006 1/8600 0/4406
?/? c.801C>G r.(=) p.(=) g.70507298C>G Copied from the Exome Variant Server CCAR1_000051 53/13006 45/8600 8/4406
?/? c.826+30A>G r.(=) p.(=) g.70507353A>G Copied from the Exome Variant Server CCAR1_000052 1/13006 0/8600 1/4406
?/? c.826+51A>G r.(=) p.(=) g.70507374A>G Copied from the Exome Variant Server CCAR1_000053 1/13006 1/8600 0/4406
?/? c.827-25C>T r.(=) p.(=) g.70508868C>T Copied from the Exome Variant Server CCAR1_000054 2/13006 0/8600 2/4406
?/? c.827-19T>C r.(=) p.(=) g.70508874T>C Copied from the Exome Variant Server CCAR1_000055 1352/13006 1005/8600 347/4406
?/? c.873G>A r.(=) p.(=) g.70508939G>A Copied from the Exome Variant Server CCAR1_000056 50/13006 1/8600 49/4406
?/? c.892C>G r.(?) p.(Pro298Ala) g.70508958C>G Copied from the Exome Variant Server CCAR1_000057 1/13006 0/8600 1/4406
?/? c.956+20_956+21insTG r.(=) p.(=) g.70509042_70509043insTG Copied from the Exome Variant Server CCAR1_000058 1/12518 0/8254 1/4264
?/? c.956+26A>T r.(=) p.(=) g.70509048A>T Copied from the Exome Variant Server CCAR1_000059 1/13006 1/8600 0/4406
?/? c.956+35A>G r.(=) p.(=) g.70509057A>G Copied from the Exome Variant Server CCAR1_000060 9/13006 0/8600 9/4406
?/? c.957-6T>C r.(=) p.(=) g.70509275T>C Copied from the Exome Variant Server CCAR1_000061 3/13006 0/8600 3/4406
?/? c.1057C>T r.(?) p.(Arg353Trp) g.70509381C>T Copied from the Exome Variant Server CCAR1_000062 4/13006 4/8600 0/4406
?/? c.1118+8A>G r.(=) p.(=) g.70509450A>G Copied from the Exome Variant Server CCAR1_000063 1/13006 1/8600 0/4406
?/? c.1118+38A>C r.(=) p.(=) g.70509480A>C Copied from the Exome Variant Server CCAR1_000064 18/13006 17/8600 1/4406
?/? c.1119-34G>C r.(=) p.(=) g.70513575G>C Copied from the Exome Variant Server CCAR1_000065 1/13006 0/8600 1/4406
?/? c.1124G>T r.(?) p.(Ser375Ile) g.70513614G>T Copied from the Exome Variant Server CCAR1_000066 1/13006 1/8600 0/4406
?/? c.1133T>C r.(?) p.(Met378Thr) g.70513623T>C Copied from the Exome Variant Server CCAR1_000067 1/13006 1/8600 0/4406
?/? c.1194A>G r.(=) p.(=) g.70513684A>G Copied from the Exome Variant Server CCAR1_000068 1203/13006 62/8600 1141/4406
?/? c.1323T>G r.(=) p.(=) g.70513813T>G Copied from the Exome Variant Server CCAR1_000069 1/13006 1/8600 0/4406
?/? c.1344+14T>C r.(=) p.(=) g.70513848T>C Copied from the Exome Variant Server CCAR1_000070 1/13006 1/8600 0/4406
?/? c.1344+43T>C r.(=) p.(=) g.70513877T>C Copied from the Exome Variant Server CCAR1_000071 3/12988 3/8586 0/4402
?/? c.1344+44T>C r.(=) p.(=) g.70513878T>C Copied from the Exome Variant Server CCAR1_000072 2/12984 0/8584 2/4400
?/? c.1345-23A>T r.(=) p.(=) g.70514448A>T Copied from the Exome Variant Server CCAR1_000073 1/13006 1/8600 0/4406
?/? c.1361G>C r.(?) p.(Ser454Thr) g.70514487G>C Copied from the Exome Variant Server CCAR1_000074 1/13006 1/8600 0/4406
?/? c.1420C>T r.(?) p.(Leu474Phe) g.70514546C>T Copied from the Exome Variant Server CCAR1_000075 2/13006 0/8600 2/4406
?/? c.1458+8G>A r.(=) p.(=) g.70514592G>A Copied from the Exome Variant Server CCAR1_000076 1/13006 1/8600 0/4406
?/? c.1458+43G>A r.(=) p.(=) g.70514627G>A Copied from the Exome Variant Server CCAR1_000077 1/13004 1/8600 0/4404
?/? c.1459-155T>C r.(=) p.(=) g.70514972T>C Copied from the Exome Variant Server CCAR1_000078 1/5734 1/3982 0/1752
?/? c.1459-133T>A r.(=) p.(=) g.70514994T>A Copied from the Exome Variant Server CCAR1_000079 3/5734 3/3982 0/1752
?/? c.1459-118A>G r.(=) p.(=) g.70515009A>G Copied from the Exome Variant Server CCAR1_000080 1/5734 1/3982 0/1752
?/? c.1521G>A r.(=) p.(=) g.70515189G>A Copied from the Exome Variant Server CCAR1_000081 1/13006 1/8600 0/4406
?/? c.1577G>A r.(?) p.(Arg526His) g.70515245G>A Copied from the Exome Variant Server CCAR1_000082 1/13006 1/8600 0/4406
?/? c.1625+27G>T r.(=) p.(=) g.70515320G>T Copied from the Exome Variant Server CCAR1_000083 2/13006 2/8600 0/4406
?/? c.1625+48A>T r.(=) p.(=) g.70515341A>T Copied from the Exome Variant Server CCAR1_000084 1/13006 0/8600 1/4406
?/? c.1626-43A>G r.(=) p.(=) g.70515987A>G Copied from the Exome Variant Server CCAR1_000085 1/13006 1/8600 0/4406
?/? c.1626-20T>C r.(=) p.(=) g.70516010T>C Copied from the Exome Variant Server CCAR1_000086 1/13006 0/8600 1/4406
?/? c.1626-15C>G r.(=) p.(=) g.70516015C>G Copied from the Exome Variant Server CCAR1_000087 1/13006 1/8600 0/4406
?/? c.1701G>A r.(=) p.(=) g.70516105G>A Copied from the Exome Variant Server CCAR1_000088 3/13006 0/8600 3/4406
?/? c.1721C>T r.(?) p.(Pro574Leu) g.70516125C>T Copied from the Exome Variant Server CCAR1_000089 2/13006 2/8600 0/4406
?/? c.1741C>T r.(?) p.(Pro581Ser) g.70516145C>T Copied from the Exome Variant Server CCAR1_000090 1/13006 1/8600 0/4406
?/? c.1748G>A r.(?) p.(Arg583His) g.70516152G>A Copied from the Exome Variant Server CCAR1_000091 1/13006 1/8600 0/4406
?/? c.1836+9C>T r.(=) p.(=) g.70516249C>T Copied from the Exome Variant Server CCAR1_000092 1/13006 0/8600 1/4406
?/? c.1850A>C r.(?) p.(Lys617Thr) g.70517064A>C Copied from the Exome Variant Server CCAR1_000093 1/13006 1/8600 0/4406
?/? c.1851G>A r.(=) p.(=) g.70517065G>A Copied from the Exome Variant Server CCAR1_000094 3/13006 0/8600 3/4406
?/? c.1921-51C>T r.(=) p.(=) g.70520713C>T Copied from the Exome Variant Server CCAR1_000095 25/12166 23/8210 2/3956
?/? c.1921-44C>T r.(=) p.(=) g.70520720C>T Copied from the Exome Variant Server CCAR1_000096 25/12420 0/8344 25/4076
?/? c.1921-44_1921-40del r.(=) p.(=) g.70520720_70520724del Copied from the Exome Variant Server CCAR1_000097 135/11456 76/7730 59/3726
?/? c.1921-43_1921-42insCC r.(=) p.(=) g.70520721_70520722insCC Copied from the Exome Variant Server CCAR1_000098 215/11694 128/7864 87/3830
?/? c.1921-40_1921-39insC r.(=) p.(=) g.70520724_70520725insC Copied from the Exome Variant Server CCAR1_000100 273/11974 162/8024 111/3950
?/? c.1921-38_1921-37insCT r.(=) p.(=) g.70520726_70520727insCT Copied from the Exome Variant Server CCAR1_000102 244/12068 138/8076 106/3992
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