Full data view for gene PPP1R13L

Information The variants shown are described using the NM_006663.3 transcript reference sequence.

126 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.-21-24G>T r.(=) p.(=) g.45901621C>A Copied from the Exome Variant Server PPP1R13L_000126 1/12938 1/8554 0/4384 - - - - - - -
?/? c.-21-10del r.(=) p.(=) g.45901607del Copied from the Exome Variant Server PPP1R13L_000125 3/12444 2/8206 1/4238 - - - - - - -
?/? c.-6G>T r.(=) p.(=) g.45901582C>A Copied from the Exome Variant Server PPP1R13L_000124 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1A>G r.? p.? g.45901576T>C Copied from the Exome Variant Server PPP1R13L_000123 1/13004 1/8600 0/4404 - - - - - - -
?/? c.44T>A r.(?) p.(Met15Lys) g.45901533A>T Copied from the Exome Variant Server PPP1R13L_000122 1/13004 1/8600 0/4404 - - - - - - -
?/? c.55+15G>A r.(=) p.(=) g.45901507C>T Copied from the Exome Variant Server PPP1R13L_000121 17/13004 1/8600 16/4404 - - - - - - -
?/? c.55+29G>A r.(=) p.(=) g.45901493C>T Copied from the Exome Variant Server PPP1R13L_000120 28/12998 26/8596 2/4402 - - - - - - -
?/? c.55+51G>C r.(=) p.(=) g.45901471C>G Copied from the Exome Variant Server PPP1R13L_000119 1/13004 0/8600 1/4404 - - - - - - -
?/? c.55+58G>A r.(=) p.(=) g.45901464C>T Copied from the Exome Variant Server PPP1R13L_000118 1/4566 1/3182 0/1384 - - - - - - -
?/? c.56-25C>A r.(=) p.(=) g.45901430G>T Copied from the Exome Variant Server PPP1R13L_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.61G>A r.(?) p.(Ala21Thr) g.45901400C>T Copied from the Exome Variant Server PPP1R13L_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.109G>A r.(?) p.(Ala37Thr) g.45901352C>T Copied from the Exome Variant Server PPP1R13L_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.45901332G>A Copied from the Exome Variant Server PPP1R13L_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.162C>T r.(=) p.(=) g.45901299G>A Copied from the Exome Variant Server PPP1R13L_000113 279/13006 1/8600 278/4406 - - - - - - -
?/? c.177G>A r.(=) p.(=) g.45901284C>T Copied from the Exome Variant Server PPP1R13L_000112 1/13006 0/8600 1/4406 - - - - - - -
?/? c.198+21G>A r.(=) p.(=) g.45901242C>T Copied from the Exome Variant Server PPP1R13L_000111 2/13006 0/8600 2/4406 - - - - - - -
?/? c.198+31G>A r.(=) p.(=) g.45901232C>T Copied from the Exome Variant Server PPP1R13L_000110 69/13006 3/8600 66/4406 - - - - - - -
?/? c.236T>G r.(?) p.(Phe79Cys) g.45900279A>C Copied from the Exome Variant Server PPP1R13L_000109 23/12238 21/8172 2/4066 - - - - - - -
?/? c.333G>T r.(=) p.(=) g.45900182C>A Copied from the Exome Variant Server PPP1R13L_000108 2/12864 0/8514 2/4350 - - - - - - -
?/? c.353C>T r.(?) p.(Pro118Leu) g.45900162G>A Copied from the Exome Variant Server PPP1R13L_000107 1/12834 1/8488 0/4346 - - - - - - -
?/? c.357G>C r.(=) p.(=) g.45900158C>G Copied from the Exome Variant Server PPP1R13L_000106 1/12834 0/8490 1/4344 - - - - - - -
?/? c.371C>T r.(?) p.(Pro124Leu) g.45900144G>A Copied from the Exome Variant Server PPP1R13L_000105 1/12768 0/8440 1/4328 - - - - - - -
?/? c.387G>C r.(=) p.(=) g.45900128C>G Copied from the Exome Variant Server PPP1R13L_000104 1/12688 0/8398 1/4290 - - - - - - -
?/? c.620_621insC r.(?) p.(Ala208Cysfs*47) g.45899894_45899895insG Copied from the Exome Variant Server PPP1R13L_000103 139/8616 88/5924 51/2692 - - - - - - -
?/? c.690C>T r.(=) p.(=) g.45899825G>A Copied from the Exome Variant Server PPP1R13L_000102 109/11318 1/7702 108/3616 - - - - - - -
?/? c.712+14C>G r.(=) p.(=) g.45899789G>C Copied from the Exome Variant Server PPP1R13L_000101 67/12168 0/8176 67/3992 - - - - - - -
?/? c.712+36G>T r.(=) p.(=) g.45899767C>A Copied from the Exome Variant Server PPP1R13L_000100 181/12792 0/8498 181/4294 - - - - - - -
?/? c.712+40G>A r.(=) p.(=) g.45899763C>T Copied from the Exome Variant Server PPP1R13L_000099 3/12894 0/8548 3/4346 - - - - - - -
?/? c.712+48C>A r.(=) p.(=) g.45899755G>T Copied from the Exome Variant Server PPP1R13L_000098 2/12936 2/8560 0/4376 - - - - - - -
?/? c.713-43C>T r.(=) p.(=) g.45899737G>A Copied from the Exome Variant Server PPP1R13L_000097 1/12976 1/8580 0/4396 - - - - - - -
?/? c.713-42G>C r.(=) p.(=) g.45899736C>G Copied from the Exome Variant Server PPP1R13L_000096 143/12982 9/8584 134/4398 - - - - - - -
?/? c.713-37C>T r.(=) p.(=) g.45899731G>A Copied from the Exome Variant Server PPP1R13L_000095 20/12984 1/8588 19/4396 - - - - - - -
?/? c.741G>A r.(=) p.(=) g.45899666C>T Copied from the Exome Variant Server PPP1R13L_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.758C>A r.(?) p.(Ser253Tyr) g.45899649G>T Copied from the Exome Variant Server PPP1R13L_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.778G>A r.(?) p.(Glu260Lys) g.45899629C>T Copied from the Exome Variant Server PPP1R13L_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.794A>T r.(?) p.(Gln265Leu) g.45899613T>A Copied from the Exome Variant Server PPP1R13L_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.811+17C>T r.(=) p.(=) g.45899579G>A Copied from the Exome Variant Server PPP1R13L_000090 29/13006 28/8600 1/4406 - - - - - - -
?/? c.811+18G>C r.(=) p.(=) g.45899578C>G Copied from the Exome Variant Server PPP1R13L_000089 2/13006 2/8600 0/4406 - - - - - - -
?/? c.812-39G>C r.(=) p.(=) g.45899556C>G Copied from the Exome Variant Server PPP1R13L_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.812-36del r.(=) p.(=) g.45899553del Copied from the Exome Variant Server PPP1R13L_000087 54/12518 33/8254 21/4264 - - - - - - -
?/? c.812-12C>A r.(=) p.(=) g.45899529G>T Copied from the Exome Variant Server PPP1R13L_000086 1/13004 0/8598 1/4406 - - - - - - -
?/? c.824T>C r.(?) p.(Phe275Ser) g.45899505A>G Copied from the Exome Variant Server PPP1R13L_000085 1/13004 1/8600 0/4404 - - - - - - -
?/? c.833C>T r.(?) p.(Pro278Leu) g.45899496G>A Copied from the Exome Variant Server PPP1R13L_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.843G>A r.(=) p.(=) g.45899486C>T Copied from the Exome Variant Server PPP1R13L_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.860C>T r.(?) p.(Pro287Leu) g.45899469G>A Copied from the Exome Variant Server PPP1R13L_000082 3/13006 3/8600 0/4406 - - - - - - -
?/? c.867G>A r.(=) p.(=) g.45899462C>T Copied from the Exome Variant Server PPP1R13L_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.902A>G r.(?) p.(Lys301Arg) g.45899427T>C Copied from the Exome Variant Server PPP1R13L_000080 4/13004 4/8600 0/4404 - - - - - - -
?/? c.903+9G>A r.(=) p.(=) g.45899417C>T Copied from the Exome Variant Server PPP1R13L_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.903+11G>A r.(=) p.(=) g.45899415C>T Copied from the Exome Variant Server PPP1R13L_000078 185/13004 5/8598 180/4406 - - - - - - -
?/? c.904-51C>T r.(=) p.(=) g.45899195G>A Copied from the Exome Variant Server PPP1R13L_000077 7/12498 1/8298 6/4200 - - - - - - -
?/? c.904-42C>T r.(=) p.(=) g.45899186G>A Copied from the Exome Variant Server PPP1R13L_000076 2/12474 2/8278 0/4196 - - - - - - -
?/? c.904-8T>C r.(=) p.(=) g.45899152A>G Copied from the Exome Variant Server PPP1R13L_000075 1/12328 0/8180 1/4148 - - - - - - -
?/? c.947C>G r.(?) p.(Ser316Cys) g.45899101G>C Copied from the Exome Variant Server PPP1R13L_000074 1/12596 1/8352 0/4244 - - - - - - -
?/? c.957C>T r.(=) p.(=) g.45899091G>A Copied from the Exome Variant Server PPP1R13L_000073 17/12458 2/8276 15/4182 - - - - - - -
?/? c.961G>A r.(?) p.(Asp321Asn) g.45899087C>T Copied from the Exome Variant Server PPP1R13L_000072 13/12330 0/8192 13/4138 - - - - - - -
?/? c.979G>T r.(?) p.(Gly327Cys) g.45899069C>A Copied from the Exome Variant Server PPP1R13L_000071 10/11790 0/7880 10/3910 - - - - - - -
?/? c.1158G>A r.(=) p.(=) g.45898890C>T Copied from the Exome Variant Server PPP1R13L_000070 1/12714 1/8426 0/4288 - - - - - - -
?/? c.1163G>A r.(?) p.(Ser388Asn) g.45898885C>T Copied from the Exome Variant Server PPP1R13L_000069 11/12738 10/8432 1/4306 - - - - - - -
?/? c.1165C>T r.(?) p.(Arg389Cys) g.45898883G>A Copied from the Exome Variant Server PPP1R13L_000068 1/12746 1/8436 0/4310 - - - - - - -
?/? c.1274C>A r.(?) p.(Pro425His) g.45898774G>T Copied from the Exome Variant Server PPP1R13L_000067 1/11250 1/7442 0/3808 - - - - - - -
?/? c.1300del r.(?) p.(Thr434Profs*16) g.45898748del Copied from the Exome Variant Server PPP1R13L_000066 184/10070 100/6708 84/3362 - - - - - - -
?/? c.1313_1314insTG r.(?) p.(Pro439Alafs*12) g.45898734_45898735insCA Copied from the Exome Variant Server PPP1R13L_000065 149/10156 70/6850 79/3306 - - - - - - -
?/? c.1318del r.(?) p.(Gln440Serfs*10) g.45898730del Copied from the Exome Variant Server PPP1R13L_000064 41/9358 17/6338 24/3020 - - - - - - -
?/? c.1320del r.(?) p.(Gln440Hisfs*10) g.45898728del Copied from the Exome Variant Server PPP1R13L_000063 119/10234 50/6934 69/3300 - - - - - - -
?/? c.1355-33A>C r.(=) p.(=) g.45895631T>G Copied from the Exome Variant Server PPP1R13L_000062 1/12448 1/8270 0/4178 - - - - - - -
?/? c.1373C>G r.(?) p.(Thr458Ser) g.45895580G>C Copied from the Exome Variant Server PPP1R13L_000061 1/12594 0/8338 1/4256 - - - - - - -
?/? c.1415C>T r.(?) p.(Pro472Leu) g.45895538G>A Copied from the Exome Variant Server PPP1R13L_000060 1/12978 1/8580 0/4398 - - - - - - -
?/? c.1432G>A r.(?) p.(Asp478Asn) g.45895521C>T Copied from the Exome Variant Server PPP1R13L_000059 1/12996 1/8594 0/4402 - - - - - - -
?/? c.1454C>A r.(?) p.(Ala485Glu) g.45895499G>T Copied from the Exome Variant Server PPP1R13L_000058 1/13000 1/8596 0/4404 - - - - - - -
?/? c.1479G>A r.(=) p.(=) g.45895474C>T Copied from the Exome Variant Server PPP1R13L_000057 1/12992 0/8590 1/4402 - - - - - - -
?/? c.1485A>G r.(=) p.(=) g.45895468T>C Copied from the Exome Variant Server PPP1R13L_000056 1/12984 0/8586 1/4398 - - - - - - -
?/? c.1497G>A r.(=) p.(=) g.45895456C>T Copied from the Exome Variant Server PPP1R13L_000055 1/12988 1/8590 0/4398 - - - - - - -
?/? c.1509G>A r.(=) p.(=) g.45895444C>T Copied from the Exome Variant Server PPP1R13L_000054 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1515C>T r.(=) p.(=) g.45895438G>A Copied from the Exome Variant Server PPP1R13L_000053 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1526A>C r.(?) p.(Glu509Ala) g.45895427T>G Copied from the Exome Variant Server PPP1R13L_000052 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1545G>A r.(=) p.(=) g.45895408C>T Copied from the Exome Variant Server PPP1R13L_000051 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1609C>G r.(?) p.(Pro537Ala) g.45895344G>C Copied from the Exome Variant Server PPP1R13L_000050 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1646G>A r.(?) p.(Arg549His) g.45895307C>T Copied from the Exome Variant Server PPP1R13L_000049 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1647C>T r.(=) p.(=) g.45895306G>A Copied from the Exome Variant Server PPP1R13L_000048 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1658G>A r.(?) p.(Arg553His) g.45895295C>T Copied from the Exome Variant Server PPP1R13L_000047 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1675C>G r.(?) p.(Pro559Ala) g.45895278G>C Copied from the Exome Variant Server PPP1R13L_000046 1/13000 1/8594 0/4406 - - - - - - -
?/? c.1671_1685del r.(?) p.(Gly558_Pro562del) g.45895268_45895282del Copied from the Exome Variant Server PPP1R13L_000045 51/12382 22/8178 29/4204 - - - - - - -
?/? c.1701C>T r.(=) p.(=) g.45895252G>A Copied from the Exome Variant Server PPP1R13L_000044 5/12980 4/8580 1/4400 - - - - - - -
?/? c.1728G>A r.(=) p.(=) g.45895225C>T Copied from the Exome Variant Server PPP1R13L_000043 1/12968 0/8578 1/4390 - - - - - - -
?/? c.1779G>A r.(=) p.(=) g.45895174C>T Copied from the Exome Variant Server PPP1R13L_000042 1/12990 1/8590 0/4400 - - - - - - -
?/? c.1805C>T r.(?) p.(Pro602Leu) g.45895148G>A Copied from the Exome Variant Server PPP1R13L_000041 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1806G>A r.(=) p.(=) g.45895147C>T Copied from the Exome Variant Server PPP1R13L_000040 2/13002 0/8596 2/4406 - - - - - - -
?/? c.1815+12A>G r.(=) p.(=) g.45895126T>C Copied from the Exome Variant Server PPP1R13L_000039 841/13002 24/8596 817/4406 - - - - - - -
?/? c.1815+23G>A r.(=) p.(=) g.45895115C>T Copied from the Exome Variant Server PPP1R13L_000038 10/13000 0/8598 10/4402 - - - - - - -
?/? c.1829_1830del r.(?) p.(Val610Alafs*133) g.45889424_45889425del Copied from the Exome Variant Server PPP1R13L_000037 33/12244 15/8084 18/4160 - - - - - - -
?/? c.1833_1834insAG r.(?) p.(Arg612Serfs*26) g.45889420_45889421insCT Copied from the Exome Variant Server PPP1R13L_000036 31/12240 13/8086 18/4154 - - - - - - -
?/? c.1937C>T r.(?) p.(Ala646Val) g.45889317G>A Copied from the Exome Variant Server PPP1R13L_000035 1/12928 0/8552 1/4376 - - - - - - -
?/? c.1948-10G>C r.(=) p.(=) g.45889225C>G Copied from the Exome Variant Server PPP1R13L_000034 1/13000 1/8598 0/4402 - - - - - - -
?/? c.1993C>T r.(?) p.(His665Tyr) g.45889170G>A Copied from the Exome Variant Server PPP1R13L_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2007C>T r.(=) p.(=) g.45889156G>A Copied from the Exome Variant Server PPP1R13L_000032 1/13002 0/8598 1/4404 - - - - - - -
?/? c.2068G>A r.(?) p.(Asp690Asn) g.45889095C>T Copied from the Exome Variant Server PPP1R13L_000031 1/12982 1/8594 0/4388 - - - - - - -
?/? c.2081+9C>G r.(=) p.(=) g.45889073G>C Copied from the Exome Variant Server PPP1R13L_000030 1/12982 1/8584 0/4398 - - - - - - -
?/? c.2081+17G>T r.(=) p.(=) g.45889065C>A Copied from the Exome Variant Server PPP1R13L_000029 1/12982 1/8588 0/4394 - - - - - - -
?/? c.2081+19G>A r.(=) p.(=) g.45889063C>T Copied from the Exome Variant Server PPP1R13L_000028 1/12988 0/8592 1/4396 - - - - - - -
?/? c.2081+22G>C r.(=) p.(=) g.45889060C>G Copied from the Exome Variant Server PPP1R13L_000027 20/12992 20/8594 0/4398 - - - - - - -
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