All transcript variants in gene CACNA1F

Information The variants shown are described using the NM_005183.2 transcript reference sequence.

287 entries on 3 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.-35T>C r.(=) p.(=) g.49089806A>G Copied from the Exome Variant Server CACNA1F_000287 1/10563 1/6728 0/3835
?/? c.25+45A>C r.(=) p.(=) g.49089702T>G Copied from the Exome Variant Server CACNA1F_000285 1/10563 0/6728 1/3835
?/? c.25+463del r.(=) p.(=) g.49089284del Copied from the Exome Variant Server CACNA1F_000283 226/4858 140/3134 86/1724
?/? c.25+463dup r.(=) p.(=) g.49089284dup Copied from the Exome Variant Server CACNA1F_000281 30/4858 13/3134 17/1724
?/? c.25+487_25+490del r.(=) p.(=) g.49089257_49089260del Copied from the Exome Variant Server CACNA1F_000286 9/5129 7/3238 2/1891
?/? c.40C>A r.(?) p.(Pro14Thr) g.49088375G>T Copied from the Exome Variant Server CACNA1F_000284 3/10476 3/6681 0/3795
?/? c.41C>T r.(?) p.(Pro14Leu) g.49088374G>A Copied from the Exome Variant Server CACNA1F_000282 617/10477 3/6682 614/3795
?/? c.123G>A r.(=) p.(=) g.49088292C>T Copied from the Exome Variant Server CACNA1F_000280 101/10559 1/6725 100/3834
?/? c.141C>A r.(=) p.(=) g.49088274G>T Copied from the Exome Variant Server CACNA1F_000279 2/10561 2/6727 0/3834
?/? c.190A>G r.(?) p.(Ser64Gly) g.49088225T>C Copied from the Exome Variant Server CACNA1F_000278 1/10563 1/6728 0/3835
?/? c.264C>A r.(=) p.(=) g.49088151G>T Copied from the Exome Variant Server CACNA1F_000277 1/10563 0/6728 1/3835
?/? c.270G>T r.(?) p.(Glu90Asp) g.49088145C>A Copied from the Exome Variant Server CACNA1F_000276 1/10563 0/6728 1/3835
?/? c.275+40C>A r.(=) p.(=) g.49088100G>T Copied from the Exome Variant Server CACNA1F_000275 1/10563 1/6728 0/3835
?/? c.276-39A>G r.(=) p.(=) g.49087808T>C Copied from the Exome Variant Server CACNA1F_000274 1/9855 1/6243 0/3612
?/? c.339C>T r.(=) p.(=) g.49087706G>A Copied from the Exome Variant Server CACNA1F_000273 1/10391 0/6619 1/3772
?/? c.370A>G r.(?) p.(Asn124Asp) g.49087675T>C Copied from the Exome Variant Server CACNA1F_000272 1/10242 1/6527 0/3715
?/? c.381+36A>G r.(=) p.(=) g.49087628T>C Copied from the Exome Variant Server CACNA1F_000271 2/9958 2/6324 0/3634
?/? c.382-36C>T r.(=) p.(=) g.49087487G>A Copied from the Exome Variant Server CACNA1F_000270 3536/10484 1859/6675 1677/3809
?/? c.382-8A>G r.(=) p.(=) g.49087459T>C Copied from the Exome Variant Server CACNA1F_000269 1/10554 0/6723 1/3831
?/? c.426G>A r.(=) p.(=) g.49087407C>T Copied from the Exome Variant Server CACNA1F_000268 1/10556 0/6724 1/3832
?/? c.475A>G r.(?) p.(Ile159Val) g.49087358T>C Copied from the Exome Variant Server CACNA1F_000267 1/10541 0/6716 1/3825
?/? c.521+26C>T r.(=) p.(=) g.49087286G>A Copied from the Exome Variant Server CACNA1F_000266 1/10400 0/6625 1/3775
?/? c.521+39C>T r.(=) p.(=) g.49087273G>A Copied from the Exome Variant Server CACNA1F_000264 565/10304 2/6564 563/3740
?/? c.664+22G>A r.(=) p.(=) g.49086907C>T Copied from the Exome Variant Server CACNA1F_000262 3/10560 0/6728 3/3832
?/? c.665-33C>T r.(=) p.(=) g.49086867G>A Copied from the Exome Variant Server CACNA1F_000260 1/10561 1/6728 0/3833
?/? c.692T>C r.(?) p.(Met231Thr) g.49086807A>G Copied from the Exome Variant Server CACNA1F_000258 1/10563 1/6728 0/3835
?/? c.761T>C r.(?) p.(Ile254Thr) g.49086738A>G Copied from the Exome Variant Server CACNA1F_000256 1/10563 0/6728 1/3835
?/? c.795G>C r.(?) p.(Lys265Asn) g.49086704C>G Copied from the Exome Variant Server CACNA1F_000254 1/10562 1/6728 0/3834
?/? c.811G>A r.(?) p.(Gly271Arg) g.49086688C>T Copied from the Exome Variant Server CACNA1F_000252 3/10562 3/6727 0/3835
?/? c.817+40C>A r.(=) p.(=) g.49086642G>T Copied from the Exome Variant Server CACNA1F_000265 36/10553 0/6723 36/3830
?/? c.818-21C>G r.(=) p.(=) g.49084930G>C Copied from the Exome Variant Server CACNA1F_000263 16/10541 0/6717 16/3824
?/? c.842C>T r.(?) p.(Ser281Leu) g.49084885G>A Copied from the Exome Variant Server CACNA1F_000261 3/10562 3/6728 0/3834
?/? c.843G>C r.(=) p.(=) g.49084884C>G Copied from the Exome Variant Server CACNA1F_000259 1/10562 0/6728 1/3834
?/? c.904C>T r.(?) p.(Arg302Cys) g.49084823G>A Copied from the Exome Variant Server CACNA1F_000257 7/10563 0/6728 7/3835
?/? c.953T>C r.(?) p.(Phe318Ser) g.49084774A>G Copied from the Exome Variant Server CACNA1F_000255 1/10563 1/6728 0/3835
?/? c.955G>A r.(?) p.(Ala319Thr) g.49084772C>T Copied from the Exome Variant Server CACNA1F_000253 1/10563 1/6728 0/3835
?/? c.999C>T r.(=) p.(=) g.49084728G>A Copied from the Exome Variant Server CACNA1F_000251 1/10563 1/6728 0/3835
?/? c.1000G>A r.(?) p.(Asp334Asn) g.49084727C>T Copied from the Exome Variant Server CACNA1F_000250 1/10563 1/6728 0/3835
?/? c.1014+18C>T r.(=) p.(=) g.49084695G>A Copied from the Exome Variant Server CACNA1F_000249 1/10563 1/6728 0/3835
?/? c.1015-51A>G r.(=) p.(=) g.49084652T>C Copied from the Exome Variant Server CACNA1F_000248 1/10563 0/6728 1/3835
?/? c.1118+6G>A r.(=) p.(=) g.49084492C>T Copied from the Exome Variant Server CACNA1F_000247 2591/10563 1849/6728 742/3835
?/? c.1119-47G>T r.(=) p.(=) g.49083636C>A Copied from the Exome Variant Server CACNA1F_000246 11/9870 0/6244 11/3626
?/? c.1154G>T r.(?) p.(Arg385Leu) g.49083554C>A Copied from the Exome Variant Server CACNA1F_000245 1/10555 0/6724 1/3831
?/? c.1174C>T r.(?) p.(Arg392Trp) g.49083534G>A Copied from the Exome Variant Server CACNA1F_000244 1/10562 0/6727 1/3835
?/? c.1204C>T r.(?) p.(Arg402Trp) g.49083504G>A Copied from the Exome Variant Server CACNA1F_000243 1/10563 1/6728 0/3835
?/? c.1302G>A r.(=) p.(=) g.49083406C>T Copied from the Exome Variant Server CACNA1F_000242 2/10563 2/6728 0/3835
?/? c.1310-36G>C r.(=) p.(=) g.49083200C>G Copied from the Exome Variant Server CACNA1F_000241 46/10388 1/6612 45/3776
?/? c.1319T>C r.(?) p.(Leu440Pro) g.49083155A>G Copied from the Exome Variant Server CACNA1F_000240 11/10522 9/6697 2/3825
?/? c.1320G>A r.(=) p.(=) g.49083154C>T Copied from the Exome Variant Server CACNA1F_000239 2/10519 0/6694 2/3825
?/? c.1324G>A r.(?) p.(Glu442Lys) g.49083150C>T Copied from the Exome Variant Server CACNA1F_000238 1/10519 0/6694 1/3825
?/? c.1449C>T r.(=) p.(=) g.49082918G>A Copied from the Exome Variant Server CACNA1F_000237 1/10553 1/6720 0/3833
?/? c.1468G>A r.(?) p.(Gly490Arg) g.49082899C>T Copied from the Exome Variant Server CACNA1F_000236 5/10552 5/6718 0/3834
?/? c.1474C>G r.(?) p.(Leu492Val) g.49082893G>C Copied from the Exome Variant Server CACNA1F_000235 1/10546 1/6717 0/3829
?/? c.1490G>A r.(?) p.(Arg497His) g.49082877C>T Copied from the Exome Variant Server CACNA1F_000234 1/10543 1/6710 0/3833
?/? c.1496+21A>G r.(=) p.(=) g.49082850T>C Copied from the Exome Variant Server CACNA1F_000233 1/10534 0/6707 1/3827
?/? c.1496+53C>G r.(=) p.(=) g.49082818G>C Copied from the Exome Variant Server CACNA1F_000232 1/3600 1/2391 0/1209
?/? c.1497-37T>C r.(=) p.(=) g.49082742A>G Copied from the Exome Variant Server CACNA1F_000231 9/10563 0/6728 9/3835
?/? c.1497-36T>C r.(=) p.(=) g.49082741A>G Copied from the Exome Variant Server CACNA1F_000230 9/10563 7/6728 2/3835
?/? c.1497-33C>T r.(=) p.(=) g.49082738G>A Copied from the Exome Variant Server CACNA1F_000229 81/10563 1/6728 80/3835
?/? c.1497-15C>A r.(=) p.(=) g.49082720G>T Copied from the Exome Variant Server CACNA1F_000228 1/10563 0/6728 1/3835
?/? c.1523+50C>A r.(=) p.(=) g.49082629G>T Copied from the Exome Variant Server CACNA1F_000227 1/10563 0/6728 1/3835
?/? c.1556G>A r.(?) p.(Arg519Gln) g.49082499C>T Copied from the Exome Variant Server CACNA1F_000226 180/10536 168/6715 12/3821
?/? c.1561C>T r.(?) p.(Arg521Cys) g.49082494G>A Copied from the Exome Variant Server CACNA1F_000225 1/10532 0/6713 1/3819
?/? c.1568G>A r.(?) p.(Arg523His) g.49082487C>T Copied from the Exome Variant Server CACNA1F_000224 9/10533 0/6715 9/3818
?/? c.1570C>T r.(?) p.(Arg524Trp) g.49082485G>A Copied from the Exome Variant Server CACNA1F_000223 2/10530 0/6713 2/3817
?/? c.1629G>A r.(=) p.(=) g.49082426C>T Copied from the Exome Variant Server CACNA1F_000222 1/10435 1/6655 0/3780
?/? c.1638C>T r.(=) p.(=) g.49082417G>A Copied from the Exome Variant Server CACNA1F_000221 1/10404 1/6634 0/3770
?/? c.1684+6C>T r.(=) p.(=) g.49082365G>A Copied from the Exome Variant Server CACNA1F_000220 1/10043 1/6396 0/3647
?/? c.1685-48C>T r.(=) p.(=) g.49081496G>A Copied from the Exome Variant Server CACNA1F_000219 23/10534 0/6706 23/3828
?/? c.1718C>T r.(?) p.(Thr573Met) g.49081415G>A Copied from the Exome Variant Server CACNA1F_000218 1/10563 0/6728 1/3835
?/? c.1728G>A r.(?) p.(Met576Ile) g.49081405C>T Copied from the Exome Variant Server CACNA1F_000217 1/10563 1/6728 0/3835
?/? c.1743C>T r.(=) p.(=) g.49081390G>A Copied from the Exome Variant Server CACNA1F_000216 1/10563 1/6728 0/3835
?/? c.1842C>T r.(=) p.(=) g.49081291G>A Copied from the Exome Variant Server CACNA1F_000214 3525/10562 1874/6727 1651/3835
?/? c.1843G>A r.(?) p.(Ala615Thr) g.49081290C>T Copied from the Exome Variant Server CACNA1F_000212 1/10562 1/6727 0/3835
?/? c.1903G>A r.(?) p.(Val635Ile) g.49081230C>T Copied from the Exome Variant Server CACNA1F_000210 26/10494 22/6684 4/3810
?/? c.1910+48A>T r.(=) p.(=) g.49081175T>A Copied from the Exome Variant Server CACNA1F_000208 1/9956 1/6325 0/3631
?/? c.1965C>T r.(=) p.(=) g.49079541G>A Copied from the Exome Variant Server CACNA1F_000206 3/10560 0/6726 3/3834
?/? c.1968C>T r.(=) p.(=) g.49079538G>A Copied from the Exome Variant Server CACNA1F_000204 4/10560 0/6726 4/3834
?/? c.2012C>G r.(?) p.(Ser671Cys) g.49079494G>C Copied from the Exome Variant Server CACNA1F_000202 1/10560 1/6726 0/3834
?/? c.2061C>T r.(=) p.(=) g.49079445G>A Copied from the Exome Variant Server CACNA1F_000215 1/10562 1/6727 0/3835
?/? c.2078C>A r.(?) p.(Thr693Asn) g.49079428G>T Copied from the Exome Variant Server CACNA1F_000213 1/10559 1/6726 0/3833
?/? c.2118+33G>A r.(=) p.(=) g.49079355C>T Copied from the Exome Variant Server CACNA1F_000211 1/10563 0/6728 1/3835
?/? c.2128G>A r.(?) p.(Gly710Ser) g.49079288C>T Copied from the Exome Variant Server CACNA1F_000209 1/10563 1/6728 0/3835
?/? c.2143G>A r.(?) p.(Val715Met) g.49079273C>T Copied from the Exome Variant Server CACNA1F_000207 1/10563 1/6728 0/3835
?/? c.2237A>C r.(?) p.(Asn746Thr) g.49079179T>G Copied from the Exome Variant Server CACNA1F_000205 24/10562 24/6728 0/3834
?/? c.2239+48G>T r.(=) p.(=) g.49079129C>A Copied from the Exome Variant Server CACNA1F_000203 1/10562 1/6728 0/3834
?/? c.2240-17G>A r.(=) p.(=) g.49079079C>T Copied from the Exome Variant Server CACNA1F_000201 1/10563 1/6728 0/3835
?/? c.2321+19C>T r.(=) p.(=) g.49078962G>A Copied from the Exome Variant Server CACNA1F_000200 1/10563 0/6728 1/3835
?/? c.2322-44C>T r.(=) p.(=) g.49077583G>A Copied from the Exome Variant Server CACNA1F_000199 3511/10563 1860/6728 1651/3835
?/? c.2322-6G>A r.(=) p.(=) g.49077545C>T Copied from the Exome Variant Server CACNA1F_000198 1/10563 1/6728 0/3835
?/? c.2330G>A r.(?) p.(Ser777Asn) g.49077531C>T Copied from the Exome Variant Server CACNA1F_000197 1/10563 0/6728 1/3835
?/? c.2364C>T r.(=) p.(=) g.49077497G>A Copied from the Exome Variant Server CACNA1F_000196 1/10563 1/6728 0/3835
?/? c.2367+30C>T r.(=) p.(=) g.49077464G>A Copied from the Exome Variant Server CACNA1F_000195 1/10563 0/6728 1/3835
?/? c.2368-56G>A r.(=) p.(=) g.49077039C>T Copied from the Exome Variant Server CACNA1F_000194 28/3600 0/2391 28/1209
?/? c.2419+27G>A r.(=) p.(=) g.49076905C>T Copied from the Exome Variant Server CACNA1F_000193 3/10560 0/6726 3/3834
?/? c.2419+36C>T r.(=) p.(=) g.49076896G>A Copied from the Exome Variant Server CACNA1F_000192 18/10561 16/6727 2/3834
?/? c.2420-19del r.(=) p.(=) g.49076268del Copied from the Exome Variant Server CACNA1F_000191 98/9793 64/6210 34/3583
?/? c.2420-19dup r.(=) p.(=) g.49076268dup Copied from the Exome Variant Server CACNA1F_000190 45/9793 31/6210 14/3583
?/? c.2442_2444del r.(?) p.(Glu825del) g.49076225_49076227del Copied from the Exome Variant Server CACNA1F_000188 143/10144 104/6448 39/3696
?/? c.2442_2444dup r.(?) p.(Glu825dup) g.49076225_49076227dup Copied from the Exome Variant Server CACNA1F_000189 1256/10144 163/6448 1093/3696
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