Full data view for gene CPVL

Information The variants shown are described using the NM_019029.2 transcript reference sequence.

125 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.-10-9T>C r.(=) p.(=) g.29160696A>G Copied from the Exome Variant Server CPVL_000124 1/13006 0/8600 1/4406 - - - - - - -
?/? c.14T>C r.(?) p.(Met5Thr) g.29160664A>G Copied from the Exome Variant Server CPVL_000122 42/13006 37/8600 5/4406 - - - - - - -
?/? c.32C>T r.(?) p.(Ser11Leu) g.29160646G>A Copied from the Exome Variant Server CPVL_000120 171/13006 147/8600 24/4406 - - - - - - -
?/? c.42G>T r.(=) p.(=) g.29160636C>A Copied from the Exome Variant Server CPVL_000118 1/13006 0/8600 1/4406 - - - - - - -
?/? c.65G>C r.(?) p.(Gly22Ala) g.29160613C>G Copied from the Exome Variant Server CPVL_000116 9/13006 9/8600 0/4406 - - - - - - -
?/? c.74G>A r.(?) p.(Arg25His) g.29160604C>T Copied from the Exome Variant Server CPVL_000114 1967/13006 1728/8600 239/4406 - - - - - - -
?/? c.100C>A r.(?) p.(Pro34Thr) g.29160578G>T Copied from the Exome Variant Server CPVL_000125 1/13006 0/8600 1/4406 - - - - - - -
?/? c.116C>T r.(?) p.(Ser39Leu) g.29160562G>A Copied from the Exome Variant Server CPVL_000123 1/13006 1/8600 0/4406 - - - - - - -
?/? c.131T>A r.(?) p.(Phe44Tyr) g.29160547A>T Copied from the Exome Variant Server CPVL_000121 2/13006 2/8600 0/4406 - - - - - - -
?/? c.169+28C>T r.(=) p.(=) g.29160481G>A Copied from the Exome Variant Server CPVL_000119 1/13006 1/8600 0/4406 - - - - - - -
?/? c.169+29C>T r.(=) p.(=) g.29160480G>A Copied from the Exome Variant Server CPVL_000117 222/13006 3/8600 219/4406 - - - - - - -
?/? c.169+46C>T r.(=) p.(=) g.29160463G>A Copied from the Exome Variant Server CPVL_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.169+48G>A r.(=) p.(=) g.29160461C>T Copied from the Exome Variant Server CPVL_000113 3/13006 0/8600 3/4406 - - - - - - -
?/? c.170-11del r.(=) p.(=) g.29152449del Copied from the Exome Variant Server CPVL_000112 1644/12518 988/8254 656/4264 - - - - - - -
?/? c.170-11dup r.(=) p.(=) g.29152449dup Copied from the Exome Variant Server CPVL_000111 4/12518 2/8254 2/4264 - - - - - - -
?/? c.170-6del r.(=) p.(=) g.29152444del Copied from the Exome Variant Server CPVL_000110 36/12518 13/8254 23/4264 - - - - - - -
?/? c.170-5A>G r.spl? p.? g.29152443T>C Copied from the Exome Variant Server CPVL_000109 1/13006 0/8600 1/4406 - - - - - - -
?/? c.182G>A r.(?) p.(Ser61Asn) g.29152426C>T Copied from the Exome Variant Server CPVL_000108 6/13006 6/8600 0/4406 - - - - - - -
?/? c.191G>A r.(?) p.(Gly64Asp) g.29152417C>T Copied from the Exome Variant Server CPVL_000107 2/13006 2/8600 0/4406 - - - - - - -
?/? c.192C>T r.(=) p.(=) g.29152416G>A Copied from the Exome Variant Server CPVL_000106 1868/13006 1017/8600 851/4406 - - - - - - -
?/? c.211A>G r.(?) p.(Met71Val) g.29152397T>C Copied from the Exome Variant Server CPVL_000105 153/13006 0/8600 153/4406 - - - - - - -
?/? c.212T>C r.(?) p.(Met71Thr) g.29152396A>G Copied from the Exome Variant Server CPVL_000104 2/13006 0/8600 2/4406 - - - - - - -
?/? c.226G>A r.(?) p.(Gly76Ser) g.29152382C>T Copied from the Exome Variant Server CPVL_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.29152371G>A Copied from the Exome Variant Server CPVL_000102 1623/13006 1011/8600 612/4406 - - - - - - -
?/? c.288+47C>T r.(=) p.(=) g.29152273G>A Copied from the Exome Variant Server CPVL_000101 3/13006 3/8600 0/4406 - - - - - - -
?/? c.289-11G>T r.(=) p.(=) g.29135844C>A Copied from the Exome Variant Server CPVL_000100 2/13006 0/8600 2/4406 - - - - - - -
?/? c.289-6C>T r.(=) p.(=) g.29135839G>A Copied from the Exome Variant Server CPVL_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.403+46G>A r.(=) p.(=) g.29135673C>T Copied from the Exome Variant Server CPVL_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.404-52G>A r.(=) p.(=) g.29134810C>T Copied from the Exome Variant Server CPVL_000097 3/7272 0/4618 3/2654 - - - - - - -
?/? c.404-35C>T r.(=) p.(=) g.29134793G>A Copied from the Exome Variant Server CPVL_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.404-34G>A r.(=) p.(=) g.29134792C>T Copied from the Exome Variant Server CPVL_000095 3/13006 0/8600 3/4406 - - - - - - -
?/? c.404-28A>T r.(=) p.(=) g.29134786T>A Copied from the Exome Variant Server CPVL_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.404-14_404-12del r.(=) p.(=) g.29134770_29134772del Copied from the Exome Variant Server CPVL_000093 1/12518 1/8254 0/4264 - - - - - - -
?/? c.407G>A r.(?) p.(Arg136His) g.29134755C>T Copied from the Exome Variant Server CPVL_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.444G>A r.(?) p.(Met148Ile) g.29134718C>T Copied from the Exome Variant Server CPVL_000091 2/13006 2/8600 0/4406 - - - - - - -
?/? c.462+24G>A r.(=) p.(=) g.29134676C>T Copied from the Exome Variant Server CPVL_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.462+39G>A r.(=) p.(=) g.29134661C>T Copied from the Exome Variant Server CPVL_000089 2/13006 2/8600 0/4406 - - - - - - -
?/? c.463-31G>A r.(=) p.(=) g.29132349C>T Copied from the Exome Variant Server CPVL_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.501A>G r.(=) p.(=) g.29132280T>C Copied from the Exome Variant Server CPVL_000087 7/13006 7/8600 0/4406 - - - - - - -
?/? c.502T>C r.(?) p.(Tyr168His) g.29132279A>G Copied from the Exome Variant Server CPVL_000086 272/13006 247/8600 25/4406 - - - - - - -
?/? c.522T>G r.(?) p.(Asp174Glu) g.29132259A>C Copied from the Exome Variant Server CPVL_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.542+10T>C r.(=) p.(=) g.29132229A>G Copied from the Exome Variant Server CPVL_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.542+11C>G r.(=) p.(=) g.29132228G>C Copied from the Exome Variant Server CPVL_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.542+27T>C r.(=) p.(=) g.29132212A>G Copied from the Exome Variant Server CPVL_000082 7869/13006 4169/8600 3700/4406 - - - - - - -
?/? c.542+61G>A r.(=) p.(=) g.29132178C>T Copied from the Exome Variant Server CPVL_000081 382/4566 342/3182 40/1384 - - - - - - -
?/? c.543-66T>G r.(=) p.(=) g.29126232A>C Copied from the Exome Variant Server CPVL_000080 15/4564 1/3180 14/1384 - - - - - - -
?/? c.543-4G>C r.spl? p.? g.29126170C>G Copied from the Exome Variant Server CPVL_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.559T>C r.(?) p.(Phe187Leu) g.29126150A>G Copied from the Exome Variant Server CPVL_000076 1/13004 1/8598 0/4406 - - - - - - -
?/? c.573T>C r.(=) p.(=) g.29126136A>G Copied from the Exome Variant Server CPVL_000074 1/13002 1/8596 0/4406 - - - - - - -
?/? c.584A>G r.(?) p.(Asn195Ser) g.29126125T>C Copied from the Exome Variant Server CPVL_000072 1/12998 0/8592 1/4406 - - - - - - -
?/? c.595T>C r.(?) p.(Tyr199His) g.29126114A>G Copied from the Exome Variant Server CPVL_000070 1/13004 1/8598 0/4406 - - - - - - -
?/? c.607G>C r.(?) p.(Glu203Gln) g.29126102C>G Copied from the Exome Variant Server CPVL_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.609+23T>C r.(=) p.(=) g.29126077A>G Copied from the Exome Variant Server CPVL_000066 53/13006 0/8600 53/4406 - - - - - - -
?/? c.609+54A>G r.(=) p.(=) g.29126046T>C Copied from the Exome Variant Server CPVL_000064 269/4564 152/3180 117/1384 - - - - - - -
?/? c.609+59A>G r.(=) p.(=) g.29126041T>C Copied from the Exome Variant Server CPVL_000062 5/4562 0/3178 5/1384 - - - - - - -
?/? c.610-44A>G r.(=) p.(=) g.29112083T>C Copied from the Exome Variant Server CPVL_000060 4/13006 4/8600 0/4406 - - - - - - -
?/? c.610-37A>G r.(=) p.(=) g.29112076T>C Copied from the Exome Variant Server CPVL_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.610-8C>T r.(=) p.(=) g.29112047G>A Copied from the Exome Variant Server CPVL_000077 10/13006 0/8600 10/4406 - - - - - - -
?/? c.615T>C r.(=) p.(=) g.29112034A>G Copied from the Exome Variant Server CPVL_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.624A>G r.(=) p.(=) g.29112025T>C Copied from the Exome Variant Server CPVL_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.667G>A r.(?) p.(Val223Met) g.29111982C>T Copied from the Exome Variant Server CPVL_000071 16/13006 15/8600 1/4406 - - - - - - -
?/? c.676G>C r.(?) p.(Val226Leu) g.29111973C>G Copied from the Exome Variant Server CPVL_000069 3/13006 3/8600 0/4406 - - - - - - -
?/? c.686A>C r.(?) p.(Asn229Thr) g.29111963T>G Copied from the Exome Variant Server CPVL_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.693C>T r.(=) p.(=) g.29111956G>A Copied from the Exome Variant Server CPVL_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.699T>C r.(=) p.(=) g.29111950A>G Copied from the Exome Variant Server CPVL_000063 67/13006 58/8600 9/4406 - - - - - - -
?/? c.701C>T r.(?) p.(Ala234Val) g.29111948G>A Copied from the Exome Variant Server CPVL_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.703A>G r.(?) p.(Ile235Val) g.29111946T>C Copied from the Exome Variant Server CPVL_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.720T>C r.(=) p.(=) g.29111929A>G Copied from the Exome Variant Server CPVL_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.732+5G>A r.spl? p.? g.29111912C>T Copied from the Exome Variant Server CPVL_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.732+38G>C r.(=) p.(=) g.29111879C>G Copied from the Exome Variant Server CPVL_000056 1163/13006 1023/8600 140/4406 - - - - - - -
?/? c.732+41G>T r.(=) p.(=) g.29111876C>A Copied from the Exome Variant Server CPVL_000055 3/13006 0/8600 3/4406 - - - - - - -
?/? c.732+50G>A r.(=) p.(=) g.29111867C>T Copied from the Exome Variant Server CPVL_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.732+51C>T r.(=) p.(=) g.29111866G>A Copied from the Exome Variant Server CPVL_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.733-26T>C r.(=) p.(=) g.29111546A>G Copied from the Exome Variant Server CPVL_000052 1661/13006 18/8600 1643/4406 - - - - - - -
?/? c.733-21G>A r.(=) p.(=) g.29111541C>T Copied from the Exome Variant Server CPVL_000051 190/13006 169/8600 21/4406 - - - - - - -
?/? c.733-5C>T r.spl? p.? g.29111525G>A Copied from the Exome Variant Server CPVL_000050 190/13006 170/8600 20/4406 - - - - - - -
?/? c.809A>G r.(?) p.(Gln270Arg) g.29111444T>C Copied from the Exome Variant Server CPVL_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.820T>G r.(?) p.(Cys274Gly) g.29111433A>C Copied from the Exome Variant Server CPVL_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.829C>T r.(?) p.(His277Tyr) g.29111424G>A Copied from the Exome Variant Server CPVL_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.864+1G>T r.spl? p.? g.29111388C>A Copied from the Exome Variant Server CPVL_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.864+35A>G r.(=) p.(=) g.29111354T>C Copied from the Exome Variant Server CPVL_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.865-41G>C r.(=) p.(=) g.29105778C>G Copied from the Exome Variant Server CPVL_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.865-39T>C r.(=) p.(=) g.29105776A>G Copied from the Exome Variant Server CPVL_000044 1933/13006 1662/8600 271/4406 - - - - - - -
?/? c.865-22_865-19del r.(=) p.(=) g.29105756_29105759del Copied from the Exome Variant Server CPVL_000042 143/12518 85/8254 58/4264 - - - - - - -
?/? c.885T>C r.(=) p.(=) g.29105717A>G Copied from the Exome Variant Server CPVL_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.937A>C r.(?) p.(Asn313His) g.29105665T>G Copied from the Exome Variant Server CPVL_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.948C>G r.(?) p.(Asn316Lys) g.29105654G>C Copied from the Exome Variant Server CPVL_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.955C>T r.(?) p.(Arg319Trp) g.29105647G>A Copied from the Exome Variant Server CPVL_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.962C>T r.(?) p.(Thr321Met) g.29105640G>A Copied from the Exome Variant Server CPVL_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.963+32T>C r.(=) p.(=) g.29105607A>G Copied from the Exome Variant Server CPVL_000036 11/13006 0/8600 11/4406 - - - - - - -
?/? c.964-29C>G r.(=) p.(=) g.29103879G>C Copied from the Exome Variant Server CPVL_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.964-27A>G r.(=) p.(=) g.29103877T>C Copied from the Exome Variant Server CPVL_000034 2845/13006 2004/8600 841/4406 - - - - - - -
?/? c.964-17A>G r.(=) p.(=) g.29103867T>C Copied from the Exome Variant Server CPVL_000033 11006/13006 7214/8600 3792/4406 - - - - - - -
?/? c.972G>A r.(=) p.(=) g.29103842C>T Copied from the Exome Variant Server CPVL_000032 13/13006 1/8600 12/4406 - - - - - - -
?/? c.1030del r.(?) p.(Val344Trpfs*11) g.29103784del Copied from the Exome Variant Server CPVL_000031 10/12518 9/8254 1/4264 - - - - - - -
?/? c.1043C>G r.(?) p.(Thr348Ser) g.29103771G>C Copied from the Exome Variant Server CPVL_000030 113/13006 106/8600 7/4406 - - - - - - -
?/? c.1057_1060del r.(?) p.(Thr353*) g.29103754_29103757del Copied from the Exome Variant Server CPVL_000029 21/12518 17/8254 4/4264 - - - - - - -
?/? c.1065_1066insT r.(?) p.(Glu356*) g.29103748_29103749insA Copied from the Exome Variant Server CPVL_000028 1/12518 0/8254 1/4264 - - - - - - -
?/? c.1079G>A r.(?) p.(Arg360Gln) g.29103735C>T Copied from the Exome Variant Server CPVL_000027 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1094A>G r.(?) p.(Gln365Arg) g.29103720T>C Copied from the Exome Variant Server CPVL_000026 2/13006 0/8600 2/4406 - - - - - - -
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