Full data view for gene CATSPER4

Information The variants shown are described using the NM_198137.1 transcript reference sequence.

128 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.18G>T r.(?) p.(Lys6Asn) g.26517136G>T Copied from the Exome Variant Server CATSPER4_000001 1/13006 0/8600 1/4406 - - - - - - -
?/? c.50G>T r.(?) p.(Gly17Val) g.26517168G>T Copied from the Exome Variant Server CATSPER4_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.66C>T r.(=) p.(=) g.26517184C>T Copied from the Exome Variant Server CATSPER4_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.67G>A r.(?) p.(Gly23Arg) g.26517185G>A Copied from the Exome Variant Server CATSPER4_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.83G>A r.(?) p.(Arg28His) g.26517201G>A Copied from the Exome Variant Server CATSPER4_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.93T>C r.(=) p.(=) g.26517211T>C Copied from the Exome Variant Server CATSPER4_000010 6/13006 5/8600 1/4406 - - - - - - -
?/? c.97G>A r.(?) p.(Gly33Arg) g.26517215G>A Copied from the Exome Variant Server CATSPER4_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.98G>A r.(?) p.(Gly33Glu) g.26517216G>A Copied from the Exome Variant Server CATSPER4_000013 13/13006 0/8600 13/4406 - - - - - - -
?/? c.110C>T r.(?) p.(Ala37Val) g.26517228C>T Copied from the Exome Variant Server CATSPER4_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.112C>T r.(=) p.(=) g.26517230C>T Copied from the Exome Variant Server CATSPER4_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.121C>T r.(?) p.(Arg41Cys) g.26517239C>T Copied from the Exome Variant Server CATSPER4_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.125C>G r.(?) p.(Pro42Arg) g.26517243C>G Copied from the Exome Variant Server CATSPER4_000021 2/13006 0/8600 2/4406 - - - - - - -
?/? c.149A>G r.(?) p.(His50Arg) g.26517267A>G Copied from the Exome Variant Server CATSPER4_000023 2609/13006 1629/8600 980/4406 - - - - - - -
?/? c.150C>T r.(=) p.(=) g.26517268C>T Copied from the Exome Variant Server CATSPER4_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.161G>A r.(?) p.(Gly54Asp) g.26517279G>A Copied from the Exome Variant Server CATSPER4_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.162T>C r.(=) p.(=) g.26517280T>C Copied from the Exome Variant Server CATSPER4_000007 50/13006 2/8600 48/4406 - - - - - - -
?/? c.191G>A r.(?) p.(Arg64His) g.26517309G>A Copied from the Exome Variant Server CATSPER4_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.203C>T r.(?) p.(Thr68Met) g.26517321C>T Copied from the Exome Variant Server CATSPER4_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.213+15C>T r.(=) p.(=) g.26517346C>T Copied from the Exome Variant Server CATSPER4_000014 199/13002 2/8596 197/4406 - - - - - - -
?/? c.213+24G>A r.(=) p.(=) g.26517355G>A Copied from the Exome Variant Server CATSPER4_000016 1/12998 1/8592 0/4406 - - - - - - -
?/? c.213+37C>G r.(=) p.(=) g.26517368C>G Copied from the Exome Variant Server CATSPER4_000018 2/12992 2/8588 0/4404 - - - - - - -
?/? c.213+48A>T r.(=) p.(=) g.26517379A>T Copied from the Exome Variant Server CATSPER4_000020 3/12978 1/8584 2/4394 - - - - - - -
?/? c.214-40T>C r.(=) p.(=) g.26517738T>C Copied from the Exome Variant Server CATSPER4_000022 1/13006 0/8600 1/4406 - - - - - - -
?/? c.214-5T>C r.spl? p.? g.26517773T>C Copied from the Exome Variant Server CATSPER4_000024 2713/13006 1620/8600 1093/4406 - - - - - - -
?/? c.218C>G r.(?) p.(Ala73Gly) g.26517782C>G Copied from the Exome Variant Server CATSPER4_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.229C>T r.(?) p.(Gln77*) g.26517793C>T Copied from the Exome Variant Server CATSPER4_000026 5/13006 5/8600 0/4406 - - - - - - -
?/? c.230A>G r.(?) p.(Gln77Arg) g.26517794A>G Copied from the Exome Variant Server CATSPER4_000027 2601/13006 1633/8600 968/4406 - - - - - - -
?/? c.238A>G r.(?) p.(Ile80Val) g.26517802A>G Copied from the Exome Variant Server CATSPER4_000028 2/13006 2/8600 0/4406 - - - - - - -
?/? c.247A>G r.(?) p.(Met83Val) g.26517811A>G Copied from the Exome Variant Server CATSPER4_000029 81/13006 76/8600 5/4406 - - - - - - -
?/? c.269G>A r.(?) p.(Arg90Gln) g.26517833G>A Copied from the Exome Variant Server CATSPER4_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.277G>C r.(?) p.(Ala93Pro) g.26517841G>C Copied from the Exome Variant Server CATSPER4_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.327C>T r.(=) p.(=) g.26517891C>T Copied from the Exome Variant Server CATSPER4_000032 2549/13006 1628/8600 921/4406 - - - - - - -
?/? c.328G>A r.(?) p.(Ala110Thr) g.26517892G>A Copied from the Exome Variant Server CATSPER4_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.344C>G r.(?) p.(Ser115Cys) g.26517908C>G Copied from the Exome Variant Server CATSPER4_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.348C>T r.(=) p.(=) g.26517912C>T Copied from the Exome Variant Server CATSPER4_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.352G>A r.(?) p.(Asp118Asn) g.26517916G>A Copied from the Exome Variant Server CATSPER4_000036 2/13006 0/8600 2/4406 - - - - - - -
?/? c.357+4G>A r.spl? p.? g.26517925G>A Copied from the Exome Variant Server CATSPER4_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.357+29C>T r.(=) p.(=) g.26517950C>T Copied from the Exome Variant Server CATSPER4_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.357+36_357+37insA r.(=) p.(=) g.26517957_26517958insA Copied from the Exome Variant Server CATSPER4_000039 1/12520 0/8254 1/4266 - - - - - - -
?/? c.357+50G>A r.(=) p.(=) g.26517971G>A Copied from the Exome Variant Server CATSPER4_000040 133/13004 1/8600 132/4404 - - - - - - -
?/? c.358-50C>T r.(=) p.(=) g.26520228C>T Copied from the Exome Variant Server CATSPER4_000041 14/13006 13/8600 1/4406 - - - - - - -
?/? c.358-5T>C r.spl? p.? g.26520273T>C Copied from the Exome Variant Server CATSPER4_000042 2/13006 2/8600 0/4406 - - - - - - -
?/? c.366T>C r.(=) p.(=) g.26520286T>C Copied from the Exome Variant Server CATSPER4_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.372G>T r.(?) p.(Leu124Phe) g.26520292G>T Copied from the Exome Variant Server CATSPER4_000044 827/13006 763/8600 64/4406 - - - - - - -
?/? c.375C>G r.(?) p.(Phe125Leu) g.26520295C>G Copied from the Exome Variant Server CATSPER4_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.388G>A r.(?) p.(Asp130Asn) g.26520308G>A Copied from the Exome Variant Server CATSPER4_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.396G>T r.(=) p.(=) g.26520316G>T Copied from the Exome Variant Server CATSPER4_000047 2/13006 2/8600 0/4406 - - - - - - -
?/? c.434T>C r.(?) p.(Leu145Pro) g.26520354T>C Copied from the Exome Variant Server CATSPER4_000048 16/13006 15/8600 1/4406 - - - - - - -
?/? c.459+16C>T r.(=) p.(=) g.26520395C>T Copied from the Exome Variant Server CATSPER4_000049 124/13006 1/8600 123/4406 - - - - - - -
?/? c.459+21C>T r.(=) p.(=) g.26520400C>T Copied from the Exome Variant Server CATSPER4_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.459+30del r.(=) p.(=) g.26520409del Copied from the Exome Variant Server CATSPER4_000051 2/12518 2/8254 0/4264 - - - - - - -
?/? c.459+38G>A r.(=) p.(=) g.26520417G>A Copied from the Exome Variant Server CATSPER4_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.459+45A>C r.(=) p.(=) g.26520424A>C Copied from the Exome Variant Server CATSPER4_000054 64/13006 1/8600 63/4406 - - - - - - -
?/? c.460-35C>A r.(=) p.(=) g.26524142C>A Copied from the Exome Variant Server CATSPER4_000056 4/13006 4/8600 0/4406 - - - - - - -
?/? c.462C>T r.(=) p.(=) g.26524179C>T Copied from the Exome Variant Server CATSPER4_000058 2/13006 2/8600 0/4406 - - - - - - -
?/? c.463G>A r.(?) p.(Gly155Ser) g.26524180G>A Copied from the Exome Variant Server CATSPER4_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.498C>T r.(=) p.(=) g.26524215C>T Copied from the Exome Variant Server CATSPER4_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.508C>T r.(?) p.(Arg170Trp) g.26524225C>T Copied from the Exome Variant Server CATSPER4_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.529A>G r.(?) p.(Asn177Asp) g.26524246A>G Copied from the Exome Variant Server CATSPER4_000066 2/13006 1/8600 1/4406 - - - - - - -
?/? c.557+6C>A r.(=) p.(=) g.26524280C>A Copied from the Exome Variant Server CATSPER4_000068 170/13006 2/8600 168/4406 - - - - - - -
?/? c.557+28G>A r.(=) p.(=) g.26524302G>A Copied from the Exome Variant Server CATSPER4_000070 35/13006 0/8600 35/4406 - - - - - - -
?/? c.558-47A>G r.(=) p.(=) g.26524401A>G Copied from the Exome Variant Server CATSPER4_000072 2516/13006 1556/8600 960/4406 - - - - - - -
?/? c.558-32C>T r.(=) p.(=) g.26524416C>T Copied from the Exome Variant Server CATSPER4_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.560C>T r.(?) p.(Ala187Val) g.26524450C>T Copied from the Exome Variant Server CATSPER4_000053 9/13006 1/8600 8/4406 - - - - - - -
?/? c.561G>A r.(=) p.(=) g.26524451G>A Copied from the Exome Variant Server CATSPER4_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.566G>A r.(?) p.(Arg189His) g.26524456G>A Copied from the Exome Variant Server CATSPER4_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.576T>C r.(=) p.(=) g.26524466T>C Copied from the Exome Variant Server CATSPER4_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.590T>C r.(?) p.(Val197Ala) g.26524480T>C Copied from the Exome Variant Server CATSPER4_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.26524484G>A Copied from the Exome Variant Server CATSPER4_000063 3/13006 0/8600 3/4406 - - - - - - -
?/? c.602C>T r.(?) p.(Ala201Val) g.26524492C>T Copied from the Exome Variant Server CATSPER4_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.614G>A r.(?) p.(Arg205His) g.26524504G>A Copied from the Exome Variant Server CATSPER4_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.616G>A r.(?) p.(Val206Ile) g.26524506G>A Copied from the Exome Variant Server CATSPER4_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.630G>A r.(=) p.(=) g.26524520G>A Copied from the Exome Variant Server CATSPER4_000071 1222/13006 1102/8600 120/4406 - - - - - - -
?/? c.644C>T r.(?) p.(Ala215Val) g.26524534C>T Copied from the Exome Variant Server CATSPER4_000073 4/13006 0/8600 4/4406 - - - - - - -
?/? c.666C>T r.(=) p.(=) g.26524556C>T Copied from the Exome Variant Server CATSPER4_000075 85/13006 0/8600 85/4406 - - - - - - -
?/? c.678+16C>G r.(=) p.(=) g.26524584C>G Copied from the Exome Variant Server CATSPER4_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.679-28C>T r.(=) p.(=) g.26524749C>T Copied from the Exome Variant Server CATSPER4_000077 111/13006 4/8600 107/4406 - - - - - - -
?/? c.679-21G>A r.(=) p.(=) g.26524756G>A Copied from the Exome Variant Server CATSPER4_000078 2/13006 2/8600 0/4406 - - - - - - -
?/? c.712G>A r.(?) p.(Ala238Thr) g.26524810G>A Copied from the Exome Variant Server CATSPER4_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.749C>T r.(?) p.(Ala250Val) g.26524847C>T Copied from the Exome Variant Server CATSPER4_000080 2/13006 0/8600 2/4406 - - - - - - -
?/? c.750G>A r.(=) p.(=) g.26524848G>A Copied from the Exome Variant Server CATSPER4_000081 3/13006 2/8600 1/4406 - - - - - - -
?/? c.751_759del r.(?) p.(Tyr252_Leu254del) g.26524849_26524857del Copied from the Exome Variant Server CATSPER4_000082 2/12488 0/8236 2/4252 - - - - - - -
?/? c.756C>T r.(=) p.(=) g.26524854C>T Copied from the Exome Variant Server CATSPER4_000083 3/13006 2/8600 1/4406 - - - - - - -
?/? c.778C>G r.(?) p.(Gln260Glu) g.26524876C>G Copied from the Exome Variant Server CATSPER4_000084 2/13006 2/8600 0/4406 - - - - - - -
?/? c.812+11G>C r.(=) p.(=) g.26524921G>C Copied from the Exome Variant Server CATSPER4_000085 4/13006 4/8600 0/4406 - - - - - - -
?/? c.812+31C>T r.(=) p.(=) g.26524941C>T Copied from the Exome Variant Server CATSPER4_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.812+46G>A r.(=) p.(=) g.26524956G>A Copied from the Exome Variant Server CATSPER4_000087 2/13006 1/8600 1/4406 - - - - - - -
?/? c.813-27G>C r.(=) p.(=) g.26526348G>C Copied from the Exome Variant Server CATSPER4_000088 2482/13006 1619/8600 863/4406 - - - - - - -
?/? c.813G>A r.(=) p.(=) g.26526375G>A Copied from the Exome Variant Server CATSPER4_000089 116/13006 107/8600 9/4406 - - - - - - -
?/? c.877A>G r.(?) p.(Ile293Val) g.26526439A>G Copied from the Exome Variant Server CATSPER4_000090 2482/13006 1619/8600 863/4406 - - - - - - -
?/? c.879C>T r.(=) p.(=) g.26526441C>T Copied from the Exome Variant Server CATSPER4_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.896T>A r.(?) p.(Ile299Asn) g.26526458T>A Copied from the Exome Variant Server CATSPER4_000092 11/13006 11/8600 0/4406 - - - - - - -
?/? c.921C>T r.(=) p.(=) g.26526483C>T Copied from the Exome Variant Server CATSPER4_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.987+4C>T r.spl? p.? g.26526553C>T Copied from the Exome Variant Server CATSPER4_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.987+5G>A r.spl? p.? g.26526554G>A Copied from the Exome Variant Server CATSPER4_000095 3155/13006 1766/8600 1389/4406 - - - - - - -
?/? c.987+9G>A r.(=) p.(=) g.26526558G>A Copied from the Exome Variant Server CATSPER4_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.987+19G>T r.(=) p.(=) g.26526568G>T Copied from the Exome Variant Server CATSPER4_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.988-17T>C r.(=) p.(=) g.26527304T>C Copied from the Exome Variant Server CATSPER4_000098 3547/13006 2030/8600 1517/4406 - - - - - - -
?/? c.988-11C>G r.(=) p.(=) g.26527310C>G Copied from the Exome Variant Server CATSPER4_000099 3390/13006 2022/8600 1368/4406 - - - - - - -
?/? c.992G>A r.(?) p.(Gly331Asp) g.26527325G>A Copied from the Exome Variant Server CATSPER4_000100 108/13006 4/8600 104/4406 - - - - - - -
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