All transcript variants in gene GPAA1

Information The variants shown are described using the NM_003801.3 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.75-49C>A r.(=) p.(=) g.145137978C>A Copied from the Exome Variant Server GPAA1_000001 6/12390 0/8330 6/4060
?/? c.75-28T>C r.(=) p.(=) g.145137999T>C Copied from the Exome Variant Server GPAA1_000002 4/12476 0/8392 4/4084
?/? c.75-5C>T r.spl? p.? g.145138022C>T Copied from the Exome Variant Server GPAA1_000003 4/12520 3/8400 1/4120
?/? c.111G>A r.(=) p.(=) g.145138063G>A Copied from the Exome Variant Server GPAA1_000004 169/12448 153/8370 16/4078
?/? c.142A>C r.(?) p.(Thr48Pro) g.145138094A>C Copied from the Exome Variant Server GPAA1_000005 1/12298 1/8324 0/3974
?/? c.149T>A r.(?) p.(Met50Lys) g.145138101T>A Copied from the Exome Variant Server GPAA1_000006 1/12260 1/8312 0/3948
?/? c.164T>C r.(?) p.(Met55Thr) g.145138116T>C Copied from the Exome Variant Server GPAA1_000007 1/12180 1/8292 0/3888
?/? c.220G>T r.(?) p.(Ala74Ser) g.145138172G>T Copied from the Exome Variant Server GPAA1_000008 1/11880 0/8156 1/3724
?/? c.223_224insG r.(?) p.(Asp76Glyfs*18) g.145138175_145138176insG Copied from the Exome Variant Server GPAA1_000009 101/11260 58/7730 43/3530
?/? c.254+26G>A r.(=) p.(=) g.145138232G>A Copied from the Exome Variant Server GPAA1_000010 1/12312 1/8336 0/3976
?/? c.254+34G>A r.(=) p.(=) g.145138240G>A Copied from the Exome Variant Server GPAA1_000011 1/12312 1/8340 0/3972
?/? c.255-8G>A r.(=) p.(=) g.145138284G>A Copied from the Exome Variant Server GPAA1_000012 1/12400 1/8370 0/4030
?/? c.278A>C r.(?) p.(Glu93Ala) g.145138315A>C Copied from the Exome Variant Server GPAA1_000013 1/12420 0/8366 1/4054
?/? c.285G>A r.(=) p.(=) g.145138322G>A Copied from the Exome Variant Server GPAA1_000014 1/12420 1/8370 0/4050
?/? c.314C>T r.(?) p.(Thr105Met) g.145138351C>T Copied from the Exome Variant Server GPAA1_000015 2/12366 2/8340 0/4026
?/? c.366+17G>A r.(=) p.(=) g.145138420G>A Copied from the Exome Variant Server GPAA1_000016 1/12130 1/8254 0/3876
?/? c.367-49C>G r.(=) p.(=) g.145138568C>G Copied from the Exome Variant Server GPAA1_000017 4/11942 4/8114 0/3828
?/? c.367-31C>G r.(=) p.(=) g.145138586C>G Copied from the Exome Variant Server GPAA1_000018 2/12084 2/8178 0/3906
?/? c.367-18C>T r.(=) p.(=) g.145138599C>T Copied from the Exome Variant Server GPAA1_000019 4/12226 4/8242 0/3984
?/? c.371T>C r.(?) p.(Val124Ala) g.145138621T>C Copied from the Exome Variant Server GPAA1_000020 43/12556 0/8396 43/4160
?/? c.372G>A r.(=) p.(=) g.145138622G>A Copied from the Exome Variant Server GPAA1_000021 1/12562 0/8398 1/4164
?/? c.390C>G r.(?) p.(Tyr130*) g.145138640C>G Copied from the Exome Variant Server GPAA1_000022 1/12662 0/8442 1/4220
?/? c.424G>C r.(?) p.(Glu142Gln) g.145138674G>C Copied from the Exome Variant Server GPAA1_000023 1/12824 1/8514 0/4310
?/? c.436C>G r.(?) p.(Leu146Val) g.145138686C>G Copied from the Exome Variant Server GPAA1_000024 1/12854 1/8530 0/4324
?/? c.492G>A r.(=) p.(=) g.145138742G>A Copied from the Exome Variant Server GPAA1_000025 1/12786 1/8512 0/4274
?/? c.514+20G>A r.(=) p.(=) g.145138784G>A Copied from the Exome Variant Server GPAA1_000026 1/12696 1/8466 0/4230
?/? c.525T>C r.(=) p.(=) g.145138852T>C Copied from the Exome Variant Server GPAA1_000027 1/12536 1/8402 0/4134
?/? c.541G>A r.(?) p.(Val181Ile) g.145138868G>A Copied from the Exome Variant Server GPAA1_000028 2/12634 2/8434 0/4200
?/? c.616+23C>T r.(=) p.(=) g.145138966C>T Copied from the Exome Variant Server GPAA1_000029 1/12864 1/8528 0/4336
?/? c.617-33C>T r.(=) p.(=) g.145139004C>T Copied from the Exome Variant Server GPAA1_000030 1/12884 1/8534 0/4350
?/? c.617-21C>T r.(=) p.(=) g.145139016C>T Copied from the Exome Variant Server GPAA1_000031 27/12868 0/8540 27/4328
?/? c.617-6C>T r.(=) p.(=) g.145139031C>T Copied from the Exome Variant Server GPAA1_000032 2/12846 0/8520 2/4326
?/? c.627G>A r.(=) p.(=) g.145139047G>A Copied from the Exome Variant Server GPAA1_000033 2/12780 0/8496 2/4284
?/? c.629C>T r.(?) p.(Ser210Phe) g.145139049C>T Copied from the Exome Variant Server GPAA1_000034 58/12772 0/8492 58/4280
?/? c.678G>A r.(=) p.(=) g.145139098G>A Copied from the Exome Variant Server GPAA1_000035 1/12740 1/8482 0/4258
?/? c.701G>T r.(?) p.(Ser234Ile) g.145139121G>T Copied from the Exome Variant Server GPAA1_000036 4/12734 4/8480 0/4254
?/? c.714C>T r.(=) p.(=) g.145139134C>T Copied from the Exome Variant Server GPAA1_000037 2/12692 2/8466 0/4226
?/? c.792G>A r.(=) p.(=) g.145139212G>A Copied from the Exome Variant Server GPAA1_000038 1/12490 0/8382 1/4108
?/? c.800C>T r.(?) p.(Thr267Met) g.145139220C>T Copied from the Exome Variant Server GPAA1_000039 1/12522 1/8392 0/4130
?/? c.813+24G>A r.(=) p.(=) g.145139257G>A Copied from the Exome Variant Server GPAA1_000040 1/12580 0/8430 1/4150
?/? c.813+25G>A r.(=) p.(=) g.145139258G>A Copied from the Exome Variant Server GPAA1_000041 1/12576 1/8428 0/4148
?/? c.822C>G r.(=) p.(=) g.145139324C>G Copied from the Exome Variant Server GPAA1_000042 1/12566 0/8414 1/4152
?/? c.823G>C r.(?) p.(Glu275Gln) g.145139325G>C Copied from the Exome Variant Server GPAA1_000043 89/12564 41/8416 48/4148
?/? c.849G>A r.(=) p.(=) g.145139351G>A Copied from the Exome Variant Server GPAA1_000044 1/12518 1/8388 0/4130
?/? c.858C>T r.(=) p.(=) g.145139360C>T Copied from the Exome Variant Server GPAA1_000045 7/12498 0/8372 7/4126
?/? c.906C>G r.(=) p.(=) g.145139408C>G Copied from the Exome Variant Server GPAA1_000046 3/12368 0/8330 3/4038
?/? c.909C>T r.(=) p.(=) g.145139411C>T Copied from the Exome Variant Server GPAA1_000048 7/12362 0/8326 7/4036
?/? c.958C>G r.(?) p.(Arg320Gly) g.145139460C>G Copied from the Exome Variant Server GPAA1_000050 1/12370 1/8330 0/4040
?/? c.959G>A r.(?) p.(Arg320His) g.145139461G>A Copied from the Exome Variant Server GPAA1_000052 1/12400 1/8340 0/4060
?/? c.961G>A r.(?) p.(Gly321Ser) g.145139463G>A Copied from the Exome Variant Server GPAA1_000054 3/12410 3/8346 0/4064
?/? c.969T>C r.(=) p.(=) g.145139471T>C Copied from the Exome Variant Server GPAA1_000047 2/12426 2/8368 0/4058
?/? c.984C>T r.(=) p.(=) g.145139486C>T Copied from the Exome Variant Server GPAA1_000049 1/12412 0/8354 1/4058
?/? c.1010+10C>G r.(=) p.(=) g.145139522C>G Copied from the Exome Variant Server GPAA1_000051 1852/12468 669/8368 1183/4100
?/? c.1010+15G>A r.(=) p.(=) g.145139527G>A Copied from the Exome Variant Server GPAA1_000053 2/12466 0/8366 2/4100
?/? c.1022G>A r.(?) p.(Gly341Asp) g.145139636G>A Copied from the Exome Variant Server GPAA1_000055 1/12442 0/8356 1/4086
?/? c.1040A>G r.(?) p.(Asn347Ser) g.145139654A>G Copied from the Exome Variant Server GPAA1_000056 2/12436 0/8340 2/4096
?/? c.1104C>T r.(=) p.(=) g.145139718C>T Copied from the Exome Variant Server GPAA1_000057 1/12378 1/8364 0/4014
?/? c.1113C>T r.(=) p.(=) g.145139727C>T Copied from the Exome Variant Server GPAA1_000058 1871/12364 663/8364 1208/4000
?/? c.1123A>G r.(?) p.(Met375Val) g.145139737A>G Copied from the Exome Variant Server GPAA1_000059 2/12378 0/8348 2/4030
?/? c.1134C>T r.(=) p.(=) g.145139748C>T Copied from the Exome Variant Server GPAA1_000060 58/12368 0/8340 58/4028
?/? c.1135G>A r.(?) p.(Gly379Ser) g.145139749G>A Copied from the Exome Variant Server GPAA1_000061 1/12372 1/8340 0/4032
?/? c.1164+23T>G r.(=) p.(=) g.145139801T>G Copied from the Exome Variant Server GPAA1_000062 1/12298 1/8324 0/3974
?/? c.1165-51C>G r.(=) p.(=) g.145139895C>G Copied from the Exome Variant Server GPAA1_000063 2/12088 2/8222 0/3866
?/? c.1165-50C>T r.(=) p.(=) g.145139896C>T Copied from the Exome Variant Server GPAA1_000064 1/12088 1/8222 0/3866
?/? c.1225G>A r.(?) p.(Ala409Thr) g.145140006G>A Copied from the Exome Variant Server GPAA1_000065 1/12128 1/8264 0/3864
?/? c.1227C>T r.(=) p.(=) g.145140008C>T Copied from the Exome Variant Server GPAA1_000066 59/12126 58/8260 1/3866
?/? c.1238G>A r.(?) p.(Ser413Asn) g.145140019G>A Copied from the Exome Variant Server GPAA1_000067 1/12084 1/8252 0/3832
?/? c.1239T>G r.(?) p.(Ser413Arg) g.145140020T>G Copied from the Exome Variant Server GPAA1_000068 1/12082 0/8250 1/3832
?/? c.1256C>G r.(?) p.(Ser419*) g.145140037C>G Copied from the Exome Variant Server GPAA1_000069 1/12092 0/8256 1/3836
?/? c.1260+24T>C r.(=) p.(=) g.145140065T>C Copied from the Exome Variant Server GPAA1_000070 2/12266 2/8300 0/3966
?/? c.1261-34A>G r.(=) p.(=) g.145140158A>G Copied from the Exome Variant Server GPAA1_000071 2/12670 2/8456 0/4214
?/? c.1268G>A r.(?) p.(Gly423Glu) g.145140199G>A Copied from the Exome Variant Server GPAA1_000072 3/12852 3/8528 0/4324
?/? c.1285G>A r.(?) p.(Ala429Thr) g.145140216G>A Copied from the Exome Variant Server GPAA1_000073 238/12916 2/8560 236/4356
?/? c.1306G>A r.(?) p.(Ala436Thr) g.145140237G>A Copied from the Exome Variant Server GPAA1_000074 1/12896 1/8552 0/4344
?/? c.1325A>G r.(?) p.(Tyr442Cys) g.145140256A>G Copied from the Exome Variant Server GPAA1_000075 1/12894 0/8556 1/4338
?/? c.1372G>A r.(?) p.(Val458Met) g.145140303G>A Copied from the Exome Variant Server GPAA1_000076 1/12900 1/8548 0/4352
?/? c.1389T>C r.(=) p.(=) g.145140320T>C Copied from the Exome Variant Server GPAA1_000077 1/12898 1/8538 0/4360
?/? c.1451G>A r.(?) p.(Arg484Gln) g.145140382G>A Copied from the Exome Variant Server GPAA1_000078 1/12520 1/8404 0/4116
?/? c.1451+5G>A r.spl? p.? g.145140387G>A Copied from the Exome Variant Server GPAA1_000079 1/12496 0/8394 1/4102
?/? c.1451+27G>A r.(=) p.(=) g.145140409G>A Copied from the Exome Variant Server GPAA1_000080 1/12478 0/8386 1/4092
?/? c.1451+31G>A r.(=) p.(=) g.145140413G>A Copied from the Exome Variant Server GPAA1_000081 4/12514 2/8398 2/4116
?/? c.1451+43C>T r.(=) p.(=) g.145140425C>T Copied from the Exome Variant Server GPAA1_000082 1/12496 1/8382 0/4114
?/? c.1452-16G>C r.(=) p.(=) g.145140460G>C Copied from the Exome Variant Server GPAA1_000083 1/12426 1/8344 0/4082
?/? c.1452-4A>G r.spl? p.? g.145140472A>G Copied from the Exome Variant Server GPAA1_000084 1937/12400 671/8350 1266/4050
?/? c.1465C>T r.(?) p.(Gln489*) g.145140489C>T Copied from the Exome Variant Server GPAA1_000085 1/12462 1/8388 0/4074
?/? c.1472C>T r.(?) p.(Pro491Leu) g.145140496C>T Copied from the Exome Variant Server GPAA1_000086 6/12438 6/8382 0/4056
?/? c.1477A>G r.(?) p.(Arg493Gly) g.145140501A>G Copied from the Exome Variant Server GPAA1_000087 59/12478 0/8390 59/4088
?/? c.1486A>T r.(?) p.(Met496Leu) g.145140510A>T Copied from the Exome Variant Server GPAA1_000088 1/12530 1/8406 0/4124
?/? c.1540G>A r.(?) p.(Ala514Thr) g.145140564G>A Copied from the Exome Variant Server GPAA1_000089 66/12640 59/8444 7/4196
?/? c.1573G>A r.(?) p.(Ala525Thr) g.145140597G>A Copied from the Exome Variant Server GPAA1_000090 1/12666 1/8446 0/4220
?/? c.1578C>T r.(=) p.(=) g.145140602C>T Copied from the Exome Variant Server GPAA1_000091 1/12668 0/8446 1/4222
?/? c.1598C>T r.(?) p.(Ala533Val) g.145140622C>T Copied from the Exome Variant Server GPAA1_000092 1/12656 0/8458 1/4198
?/? c.1618C>G r.(?) p.(Pro540Ala) g.145140642C>G Copied from the Exome Variant Server GPAA1_000093 1/12632 0/8442 1/4190
?/? c.1622+3A>G r.spl? p.? g.145140649A>G Copied from the Exome Variant Server GPAA1_000094 25/12644 0/8444 25/4200
?/? c.1622+33C>T r.(=) p.(=) g.145140679C>T Copied from the Exome Variant Server GPAA1_000095 1/12688 1/8446 0/4242
?/? c.1622+44A>G r.(=) p.(=) g.145140690A>G Copied from the Exome Variant Server GPAA1_000096 1/12670 0/8430 1/4240
?/? c.1623-44T>A r.(=) p.(=) g.145140741T>A Copied from the Exome Variant Server GPAA1_000097 1/12562 1/8404 0/4158
?/? c.1623-20G>A r.(=) p.(=) g.145140765G>A Copied from the Exome Variant Server GPAA1_000099 1/12480 1/8376 0/4104
?/? c.1623-8C>T r.(=) p.(=) g.145140777C>T Copied from the Exome Variant Server GPAA1_000101 80/12452 75/8368 5/4084
?/? c.1623G>A r.(=) p.(=) g.145140785G>A Copied from the Exome Variant Server GPAA1_000103 55/12426 0/8348 55/4078
Legend   « First ‹ Prev     1 2     Next › Last »