Full data view for gene POMT2

Information The variants shown are described using the NM_013382.5 transcript reference sequence.

176 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.-47_-44del r.(=) p.(=) g.77787068_77787071del Copied from the Exome Variant Server POMT2_000174 151/8188 137/5700 14/2488 - - - - - - -
?/? c.161C>A r.(?) p.(Ala54Glu) g.77786864G>T Copied from the Exome Variant Server POMT2_000172 362/12328 3/8238 359/4090 - - - - - - -
?/? c.162G>T r.(=) p.(=) g.77786863C>A Copied from the Exome Variant Server POMT2_000170 521/12408 478/8280 43/4128 - - - - - - -
?/? c.166G>T r.(?) p.(Gly56Cys) g.77786859C>A Copied from the Exome Variant Server POMT2_000168 1/12374 1/8258 0/4116 - - - - - - -
?/? c.229G>A r.(?) p.(Asp77Asn) g.77786796C>T Copied from the Exome Variant Server POMT2_000166 6/12286 0/8156 6/4130 - - - - - - -
?/? c.232G>C r.(?) p.(Glu78Gln) g.77786793C>G Copied from the Exome Variant Server POMT2_000176 6/12256 5/8118 1/4138 - - - - - - -
?/? c.249-51G>A r.(=) p.(=) g.77778427C>T Copied from the Exome Variant Server POMT2_000175 1/12994 1/8594 0/4400 - - - - - - -
?/? c.249-35del r.(=) p.(=) g.77778411del Copied from the Exome Variant Server POMT2_000173 1/12510 1/8248 0/4262 - - - - - - -
?/? c.293A>G r.(?) p.(Asn98Ser) g.77778332T>C Copied from the Exome Variant Server POMT2_000171 1/13006 0/8600 1/4406 - - - - - - -
?/? c.324C>T r.(=) p.(=) g.77778301G>A Copied from the Exome Variant Server POMT2_000169 1/13006 1/8600 0/4406 - - - - - - -
?/? c.334-45T>C r.(=) p.(=) g.77772829A>G Copied from the Exome Variant Server POMT2_000167 1139/13006 984/8600 155/4406 - - - - - - -
?/? c.334-44C>T r.(=) p.(=) g.77772828G>A Copied from the Exome Variant Server POMT2_000165 1/13006 1/8600 0/4406 - - - - - - -
?/? c.334-35G>C r.(=) p.(=) g.77772819C>G Copied from the Exome Variant Server POMT2_000164 26/13006 0/8600 26/4406 - - - - - - -
?/? c.424A>G r.(?) p.(Met142Val) g.77772694T>C Copied from the Exome Variant Server POMT2_000163 1/13006 0/8600 1/4406 - - - - - - -
?/? c.434G>C r.(?) p.(Arg145Thr) g.77772684C>G Copied from the Exome Variant Server POMT2_000162 1/13006 0/8600 1/4406 - - - - - - -
?/? c.438+11C>T r.(=) p.(=) g.77772669G>A Copied from the Exome Variant Server POMT2_000161 1/13006 0/8600 1/4406 - - - - - - -
?/? c.439-46A>G r.(=) p.(=) g.77771189T>C Copied from the Exome Variant Server POMT2_000160 3/12890 0/8528 3/4362 - - - - - - -
?/? c.439-45C>T r.(=) p.(=) g.77771188G>A Copied from the Exome Variant Server POMT2_000159 60/12896 55/8532 5/4364 - - - - - - -
?/? c.447A>G r.(=) p.(=) g.77771135T>C Copied from the Exome Variant Server POMT2_000158 1/13004 1/8600 0/4404 - - - - - - -
?/? c.466G>T r.(?) p.(Val156Phe) g.77771116C>A Copied from the Exome Variant Server POMT2_000157 1/13004 0/8598 1/4406 - - - - - - -
?/? c.479A>C r.(?) p.(Tyr160Ser) g.77771103T>G Copied from the Exome Variant Server POMT2_000156 1/13004 0/8598 1/4406 - - - - - - -
?/? c.525C>T r.(=) p.(=) g.77771057G>A Copied from the Exome Variant Server POMT2_000155 1/13002 1/8596 0/4406 - - - - - - -
?/? c.547+41_547+42insC r.(=) p.(=) g.77770993_77770994insG Copied from the Exome Variant Server POMT2_000154 196/12178 135/8040 61/4138 - - - - - - -
?/? c.547+51G>A r.(=) p.(=) g.77770984C>T Copied from the Exome Variant Server POMT2_000153 1/12864 1/8502 0/4362 - - - - - - -
?/? c.548-24C>T r.(=) p.(=) g.77769310G>A Copied from the Exome Variant Server POMT2_000152 1/13006 1/8600 0/4406 - - - - - - -
?/? c.548-24_548-23insC r.(=) p.(=) g.77769309_77769310insG Copied from the Exome Variant Server POMT2_000151 2/12518 0/8254 2/4264 - - - - - - -
?/? c.631G>A r.(?) p.(Val211Ile) g.77769203C>T Copied from the Exome Variant Server POMT2_000150 1/13006 1/8600 0/4406 - - - - - - -
?/? c.636G>A r.(=) p.(=) g.77769198C>T Copied from the Exome Variant Server POMT2_000149 2/13006 2/8600 0/4406 - - - - - - -
?/? c.640A>C r.(?) p.(Asn214His) g.77769194T>G Copied from the Exome Variant Server POMT2_000148 1/13006 1/8600 0/4406 - - - - - - -
?/? c.648C>T r.(=) p.(=) g.77769186G>A Copied from the Exome Variant Server POMT2_000147 3/13006 3/8600 0/4406 - - - - - - -
?/? c.649G>A r.(?) p.(Ala217Thr) g.77769185C>T Copied from the Exome Variant Server POMT2_000146 14/13006 0/8600 14/4406 - - - - - - -
?/? c.652G>A r.(?) p.(Asp218Asn) g.77769182C>T Copied from the Exome Variant Server POMT2_000145 82/13006 1/8600 81/4406 - - - - - - -
?/? c.656+16C>G r.(=) p.(=) g.77769162G>C Copied from the Exome Variant Server POMT2_000144 5/13006 5/8600 0/4406 - - - - - - -
?/? c.656+37G>A r.(=) p.(=) g.77769141C>T Copied from the Exome Variant Server POMT2_000143 1/13006 0/8600 1/4406 - - - - - - -
?/? c.657-52G>A r.(=) p.(=) g.77767644C>T Copied from the Exome Variant Server POMT2_000142 1/7272 0/4618 1/2654 - - - - - - -
?/? c.657-40T>C r.(=) p.(=) g.77767632A>G Copied from the Exome Variant Server POMT2_000141 1/13006 0/8600 1/4406 - - - - - - -
?/? c.672C>T r.(=) p.(=) g.77767577G>A Copied from the Exome Variant Server POMT2_000140 1/13006 1/8600 0/4406 - - - - - - -
?/? c.699C>T r.(=) p.(=) g.77767550G>A Copied from the Exome Variant Server POMT2_000139 1/13006 0/8600 1/4406 - - - - - - -
?/? c.769A>G r.(?) p.(Thr257Ala) g.77767480T>C Copied from the Exome Variant Server POMT2_000138 2/13006 2/8600 0/4406 - - - - - - -
?/? c.806G>A r.(?) p.(Ser269Asn) g.77767443C>T Copied from the Exome Variant Server POMT2_000137 7/13006 0/8600 7/4406 - - - - - - -
?/? c.816+51T>C r.(=) p.(=) g.77767382A>G Copied from the Exome Variant Server POMT2_000136 2854/13006 2032/8600 822/4406 - - - - - - -
?/? c.817-45T>C r.(=) p.(=) g.77765949A>G Copied from the Exome Variant Server POMT2_000135 1/13006 0/8600 1/4406 - - - - - - -
?/? c.817-26C>T r.(=) p.(=) g.77765930G>A Copied from the Exome Variant Server POMT2_000134 2/13006 2/8600 0/4406 - - - - - - -
?/? c.817-19C>T r.(=) p.(=) g.77765923G>A Copied from the Exome Variant Server POMT2_000133 1/13006 1/8600 0/4406 - - - - - - -
?/? c.844C>T r.(?) p.(Arg282Cys) g.77765877G>A Copied from the Exome Variant Server POMT2_000132 2/13006 1/8600 1/4406 - - - - - - -
?/? c.856C>T r.(?) p.(Leu286Phe) g.77765865G>A Copied from the Exome Variant Server POMT2_000131 1/13006 1/8600 0/4406 - - - - - - -
?/? c.923+12G>C r.(=) p.(=) g.77765786C>G Copied from the Exome Variant Server POMT2_000130 1/13006 0/8600 1/4406 - - - - - - -
?/? c.923+25C>A r.(=) p.(=) g.77765773G>T Copied from the Exome Variant Server POMT2_000129 1/13006 0/8600 1/4406 - - - - - - -
?/? c.923+50C>T r.(=) p.(=) g.77765748G>A Copied from the Exome Variant Server POMT2_000128 1/13006 1/8600 0/4406 - - - - - - -
?/? c.924-10C>T r.(=) p.(=) g.77765124G>A Copied from the Exome Variant Server POMT2_000127 34/13006 1/8600 33/4406 - - - - - - -
?/? c.925G>A r.(?) p.(Gly309Ser) g.77765113C>T Copied from the Exome Variant Server POMT2_000126 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936C>T r.(=) p.(=) g.77765102G>A Copied from the Exome Variant Server POMT2_000125 1/13006 1/8600 0/4406 - - - - - - -
?/? c.974G>A r.(?) p.(Gly325Glu) g.77765064C>T Copied from the Exome Variant Server POMT2_000124 1/13006 0/8600 1/4406 - - - - - - -
?/? c.990T>C r.(=) p.(=) g.77765048A>G Copied from the Exome Variant Server POMT2_000123 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1007-32G>A r.(=) p.(=) g.77762648C>T Copied from the Exome Variant Server POMT2_000122 324/12998 296/8594 28/4404 - - - - - - -
?/? c.1007-20G>A r.(=) p.(=) g.77762636C>T Copied from the Exome Variant Server POMT2_000121 2/13004 0/8598 2/4406 - - - - - - -
?/? c.1040A>G r.(?) p.(Asn347Ser) g.77762583T>C Copied from the Exome Variant Server POMT2_000120 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1043T>C r.(?) p.(Leu348Pro) g.77762580A>G Copied from the Exome Variant Server POMT2_000119 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1045C>T r.(?) p.(Arg349Trp) g.77762578G>A Copied from the Exome Variant Server POMT2_000118 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1058G>A r.(?) p.(Gly353Asp) g.77762565C>T Copied from the Exome Variant Server POMT2_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1094G>A r.(?) p.(Gly365Asp) g.77762529C>T Copied from the Exome Variant Server POMT2_000116 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1116+35A>G r.(=) p.(=) g.77762472T>C Copied from the Exome Variant Server POMT2_000115 232/12996 218/8596 14/4400 - - - - - - -
?/? c.1141T>C r.(?) p.(Tyr381His) g.77757699A>G Copied from the Exome Variant Server POMT2_000114 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1142A>G r.(?) p.(Tyr381Cys) g.77757698T>C Copied from the Exome Variant Server POMT2_000113 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1183+14A>G r.(=) p.(=) g.77757643T>C Copied from the Exome Variant Server POMT2_000112 76/13006 3/8600 73/4406 - - - - - - -
?/? c.1183+22G>A r.(=) p.(=) g.77757635C>T Copied from the Exome Variant Server POMT2_000111 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1183+26C>G r.(=) p.(=) g.77757631G>C Copied from the Exome Variant Server POMT2_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1183+67A>G r.(=) p.(=) g.77757590T>C Copied from the Exome Variant Server POMT2_000109 25/4566 1/3182 24/1384 - - - - - - -
?/? c.1184-47A>C r.(=) p.(=) g.77755221T>G Copied from the Exome Variant Server POMT2_000108 6784/13006 4669/8600 2115/4406 - - - - - - -
?/? c.1184-45C>T r.(=) p.(=) g.77755219G>A Copied from the Exome Variant Server POMT2_000107 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1189C>G r.(?) p.(Leu397Val) g.77755169G>C Copied from the Exome Variant Server POMT2_000106 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1192G>C r.(?) p.(Asp398His) g.77755166C>G Copied from the Exome Variant Server POMT2_000105 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1206A>C r.(=) p.(=) g.77755152T>G Copied from the Exome Variant Server POMT2_000104 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1238G>C r.(?) p.(Arg413Pro) g.77755120C>G Copied from the Exome Variant Server POMT2_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1250A>G r.(?) p.(Lys417Arg) g.77755108T>C Copied from the Exome Variant Server POMT2_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1253+36C>T r.(=) p.(=) g.77755069G>A Copied from the Exome Variant Server POMT2_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1254-60A>G r.(=) p.(=) g.77753225T>C Copied from the Exome Variant Server POMT2_000100 7/4566 0/3182 7/1384 - - - - - - -
?/? c.1254-44C>T r.(=) p.(=) g.77753209G>A Copied from the Exome Variant Server POMT2_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1262G>A r.(?) p.(Arg421Gln) g.77753157C>T Copied from the Exome Variant Server POMT2_000096 40/13006 2/8600 38/4406 - - - - - - -
?/? c.1320C>T r.(=) p.(=) g.77753099G>A Copied from the Exome Variant Server POMT2_000094 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1321G>A r.(?) p.(Gly441Ser) g.77753098C>T Copied from the Exome Variant Server POMT2_000099 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1332+8A>C r.(=) p.(=) g.77753079T>G Copied from the Exome Variant Server POMT2_000097 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1332+6_1332+9del r.(=) p.(=) g.77753078_77753081del Copied from the Exome Variant Server POMT2_000095 95/12518 62/8254 33/4264 - - - - - - -
?/? c.1332+13C>T r.(=) p.(=) g.77753074G>A Copied from the Exome Variant Server POMT2_000093 32/13006 0/8600 32/4406 - - - - - - -
?/? c.1332+30C>T r.(=) p.(=) g.77753057G>A Copied from the Exome Variant Server POMT2_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1332+31G>A r.(=) p.(=) g.77753056C>T Copied from the Exome Variant Server POMT2_000091 9/13006 0/8600 9/4406 - - - - - - -
?/? c.1332+45C>T r.(=) p.(=) g.77753042G>A Copied from the Exome Variant Server POMT2_000090 26/13006 0/8600 26/4406 - - - - - - -
?/? c.1337G>A r.(?) p.(Gly446Glu) g.77751971C>T Copied from the Exome Variant Server POMT2_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1375G>A r.(?) p.(Val459Ile) g.77751933C>T Copied from the Exome Variant Server POMT2_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1383G>A r.(?) p.(=) g.77751925C>T Copied from the Exome Variant Server POMT2_000087 10769/13006 6936/8600 3833/4406 - - - - - - -
?/? c.1397G>A r.(?) p.(Arg466Gln) g.77751911C>T Copied from the Exome Variant Server POMT2_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1404A>G r.(=) p.(=) g.77751904T>C Copied from the Exome Variant Server POMT2_000085 8/13006 8/8600 0/4406 - - - - - - -
?/? c.1417C>T r.(?) p.(Arg473*) g.77751891G>A Copied from the Exome Variant Server POMT2_000084 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1464G>T r.(=) p.(=) g.77751844C>A Copied from the Exome Variant Server POMT2_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1465_1476del r.(?) p.(Gly489_Leu492del) g.77751832_77751843del Copied from the Exome Variant Server POMT2_000082 9/12518 6/8254 3/4264 - - - - - - -
?/? c.1484+28A>G r.(=) p.(=) g.77751796T>C Copied from the Exome Variant Server POMT2_000081 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1576+55C>T r.(=) p.(=) g.77751238G>A Copied from the Exome Variant Server POMT2_000080 137/4566 126/3182 11/1384 - - - - - - -
?/? c.1577-31A>G r.(=) p.(=) g.77750247T>C Copied from the Exome Variant Server POMT2_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1577-30del r.(=) p.(=) g.77750246del Copied from the Exome Variant Server POMT2_000078 1/12514 0/8250 1/4264 - - - - - - -
?/? c.1577-8del r.(=) p.(=) g.77750224del Copied from the Exome Variant Server POMT2_000077 2/12514 1/8250 1/4264 - - - - - - -
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