All transcript variants in gene MINK1

Information The variants shown are described using the NM_015716.4 transcript reference sequence.

338 entries on 4 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     
?/? c.-41G>A r.(=) p.(=) g.4736838G>A Copied from the Exome Variant Server MINK1_000001 592/8894 460/6114 132/2780
?/? c.6C>T r.(=) p.(=) g.4736884C>T Copied from the Exome Variant Server MINK1_000002 13/10118 0/6918 13/3200
?/? c.57+1137A>G r.(=) p.(=) g.4738072A>G Copied from the Exome Variant Server MINK1_000003 1/12252 1/8302 0/3950
?/? c.57+1142C>A r.(=) p.(=) g.4738077C>A Copied from the Exome Variant Server MINK1_000004 1/12240 0/8304 1/3936
?/? c.57+1170G>A r.(=) p.(=) g.4738105G>A Copied from the Exome Variant Server MINK1_000005 51/12184 0/8296 51/3888
?/? c.57+1177G>A r.(=) p.(=) g.4738112G>A Copied from the Exome Variant Server MINK1_000006 1/12176 0/8288 1/3888
?/? c.57+10857T>C r.(=) p.(=) g.4747792T>C Copied from the Exome Variant Server MINK1_000007 1/4566 0/3182 1/1384
?/? c.57+10948A>C r.(=) p.(=) g.4747883A>C Copied from the Exome Variant Server MINK1_000008 1/12020 1/8214 0/3806
?/? c.57+10952G>A r.(=) p.(=) g.4747887G>A Copied from the Exome Variant Server MINK1_000009 2/12012 1/8210 1/3802
?/? c.57+11019T>C r.(=) p.(=) g.4747954T>C Copied from the Exome Variant Server MINK1_000010 2/4566 1/3182 1/1384
?/? c.57+13460A>G r.(=) p.(=) g.4750395A>G Copied from the Exome Variant Server MINK1_000011 1/4566 0/3182 1/1384
?/? c.57+13498A>G r.(=) p.(=) g.4750433A>G Copied from the Exome Variant Server MINK1_000012 22/12250 3/8306 19/3944
?/? c.57+13527A>G r.(=) p.(=) g.4750462A>G Copied from the Exome Variant Server MINK1_000013 2/12316 2/8324 0/3992
?/? c.57+13547A>G r.(=) p.(=) g.4750482A>G Copied from the Exome Variant Server MINK1_000014 1/12338 1/8330 0/4008
?/? c.57+13561C>T r.(=) p.(=) g.4750496C>T Copied from the Exome Variant Server MINK1_000015 1/12332 0/8322 1/4010
?/? c.57+13591_57+13598del r.(=) p.(=) g.4750526_4750533del Copied from the Exome Variant Server MINK1_000016 19/11416 8/7740 11/3676
?/? c.57+13591_57+13598dup r.(=) p.(=) g.4750526_4750533dup Copied from the Exome Variant Server MINK1_000017 55/11416 22/7740 33/3676
?/? c.57+13595_57+13598del r.(=) p.(=) g.4750530_4750533del Copied from the Exome Variant Server MINK1_000019 890/11416 173/7740 717/3676
?/? c.57+13595_57+13598dup r.(=) p.(=) g.4750530_4750533dup Copied from the Exome Variant Server MINK1_000018 1130/11416 750/7740 380/3676
?/? c.57+13638G>A r.(=) p.(=) g.4750573G>A Copied from the Exome Variant Server MINK1_000020 2039/4566 1777/3182 262/1384
?/? c.57+17348C>T r.(=) p.(=) g.4754283C>T Copied from the Exome Variant Server MINK1_000021 17/12340 17/8264 0/4076
?/? c.57+17367C>T r.(=) p.(=) g.4754302C>T Copied from the Exome Variant Server MINK1_000022 1/12322 0/8262 1/4060
?/? c.57+17370C>T r.(=) p.(=) g.4754305C>T Copied from the Exome Variant Server MINK1_000023 9/12306 9/8260 0/4046
?/? c.57+17383C>A r.(=) p.(=) g.4754318C>A Copied from the Exome Variant Server MINK1_000024 1/12320 0/8252 1/4068
?/? c.57+17420C>G r.(=) p.(=) g.4754355C>G Copied from the Exome Variant Server MINK1_000025 1/12040 0/8126 1/3914
?/? c.57+21051A>G r.(=) p.(=) g.4757986A>G Copied from the Exome Variant Server MINK1_000026 3/4566 3/3182 0/1384
?/? c.57+21147G>A r.(=) p.(=) g.4758082G>A Copied from the Exome Variant Server MINK1_000027 1/12114 0/8252 1/3862
?/? c.58-17605G>T r.(=) p.(=) g.4764007G>T Copied from the Exome Variant Server MINK1_000028 1/12506 1/8380 0/4126
?/? c.58-17590G>A r.(=) p.(=) g.4764022G>A Copied from the Exome Variant Server MINK1_000029 1/12530 1/8388 0/4142
?/? c.58-17581T>A r.(=) p.(=) g.4764031T>A Copied from the Exome Variant Server MINK1_000030 2/12526 0/8380 2/4146
?/? c.58-17550C>G r.(=) p.(=) g.4764062C>G Copied from the Exome Variant Server MINK1_000031 2/12538 2/8378 0/4160
?/? c.58-17525C>T r.(=) p.(=) g.4764087C>T Copied from the Exome Variant Server MINK1_000032 1/12524 1/8382 0/4142
?/? c.58-17523C>A r.(=) p.(=) g.4764089C>A Copied from the Exome Variant Server MINK1_000033 1/12510 1/8388 0/4122
?/? c.58-17480G>A r.(=) p.(=) g.4764132G>A Copied from the Exome Variant Server MINK1_000034 8/4566 8/3182 0/1384
?/? c.58-7295T>G r.(=) p.(=) g.4774317T>G Copied from the Exome Variant Server MINK1_000035 1/6256 0/4238 1/2018
?/? c.58-7272C>T r.(=) p.(=) g.4774340C>T Copied from the Exome Variant Server MINK1_000036 13/6240 0/4232 13/2008
?/? c.58-7271G>A r.(=) p.(=) g.4774341G>A Copied from the Exome Variant Server MINK1_000037 379/6240 17/4230 362/2010
?/? c.58-7217A>G r.(=) p.(=) g.4774395A>G Copied from the Exome Variant Server MINK1_000038 1/6182 0/4214 1/1968
?/? c.58-7159_58-7158insT r.(=) p.(=) g.4774453_4774454insT Copied from the Exome Variant Server MINK1_000039 3/6722 3/4538 0/2184
?/? c.58-3256G>C r.(=) p.(=) g.4778356G>C Copied from the Exome Variant Server MINK1_000040 1/11876 1/8180 0/3696
?/? c.58-3209C>T r.(=) p.(=) g.4778403C>T Copied from the Exome Variant Server MINK1_000041 1/11882 1/8186 0/3696
?/? c.58-3208G>A r.(=) p.(=) g.4778404G>A Copied from the Exome Variant Server MINK1_000042 1/11878 1/8184 0/3694
?/? c.58-3162T>A r.(=) p.(=) g.4778450T>A Copied from the Exome Variant Server MINK1_000043 39/11888 37/8188 2/3700
?/? c.58-3159A>G r.(=) p.(=) g.4778453A>G Copied from the Exome Variant Server MINK1_000044 2/11898 2/8190 0/3708
?/? c.58-3125G>A r.(=) p.(=) g.4778487G>A Copied from the Exome Variant Server MINK1_000045 2951/4566 2321/3182 630/1384
?/? c.124-30A>C r.(=) p.(=) g.4784249A>C Copied from the Exome Variant Server MINK1_000046 337/4566 292/3182 45/1384
?/? c.124-4G>A r.spl? p.? g.4784275G>A Copied from the Exome Variant Server MINK1_000047 1/4566 1/3182 0/1384
?/? c.165C>T r.(=) p.(=) g.4784320C>T Copied from the Exome Variant Server MINK1_000048 1/4566 0/3182 1/1384
?/? c.180+27G>C r.(=) p.(=) g.4784362G>C Copied from the Exome Variant Server MINK1_000049 3/4566 3/3182 0/1384
?/? c.180+38G>T r.(=) p.(=) g.4784373G>T Copied from the Exome Variant Server MINK1_000050 21/4566 0/3182 21/1384
?/? c.180+40G>A r.(=) p.(=) g.4784375G>A Copied from the Exome Variant Server MINK1_000051 7/4566 1/3182 6/1384
?/? c.181-45G>A r.(=) p.(=) g.4784382G>A Copied from the Exome Variant Server MINK1_000052 8/4566 8/3182 0/1384
?/? c.183C>T r.(=) p.(=) g.4784429C>T Copied from the Exome Variant Server MINK1_000053 1/4566 1/3182 0/1384
?/? c.291C>T r.(=) p.(=) g.4784537C>T Copied from the Exome Variant Server MINK1_000054 2/4566 0/3182 2/1384
?/? c.306+10G>A r.(=) p.(=) g.4784562G>A Copied from the Exome Variant Server MINK1_000055 2/4566 0/3182 2/1384
?/? c.307-47C>A r.(=) p.(=) g.4787611C>A Copied from the Exome Variant Server MINK1_000056 1/12328 1/8330 0/3998
?/? c.307-22C>T r.(=) p.(=) g.4787636C>T Copied from the Exome Variant Server MINK1_000057 1/12462 1/8392 0/4070
?/? c.369C>T r.(=) p.(=) g.4787720C>T Copied from the Exome Variant Server MINK1_000058 290/12596 265/8428 25/4168
?/? c.393C>T r.(=) p.(=) g.4787744C>T Copied from the Exome Variant Server MINK1_000059 1/12506 0/8406 1/4100
?/? c.417+13C>A r.(=) p.(=) g.4787781C>A Copied from the Exome Variant Server MINK1_000060 83/12416 75/8368 8/4048
?/? c.417+20C>A r.(=) p.(=) g.4787788C>A Copied from the Exome Variant Server MINK1_000061 1/12378 1/8354 0/4024
?/? c.417+36G>A r.(=) p.(=) g.4787804G>A Copied from the Exome Variant Server MINK1_000062 867/12312 756/8318 111/3994
?/? c.417+46C>T r.(=) p.(=) g.4787814C>T Copied from the Exome Variant Server MINK1_000063 41/12278 36/8314 5/3964
?/? c.418-37A>G r.(=) p.(=) g.4788170A>G Copied from the Exome Variant Server MINK1_000064 1/12528 1/8404 0/4124
?/? c.429T>C r.(=) p.(=) g.4788218T>C Copied from the Exome Variant Server MINK1_000065 5/12598 5/8430 0/4168
?/? c.492T>C r.(=) p.(=) g.4788281T>C Copied from the Exome Variant Server MINK1_000066 1/12676 1/8476 0/4200
?/? c.508+26C>T r.(=) p.(=) g.4788323C>T Copied from the Exome Variant Server MINK1_000067 300/12484 280/8402 20/4082
?/? c.508+27G>A r.(=) p.(=) g.4788324G>A Copied from the Exome Variant Server MINK1_000068 2/12446 2/8398 0/4048
?/? c.508+45G>T r.(=) p.(=) g.4788342G>T Copied from the Exome Variant Server MINK1_000069 1/12242 1/8318 0/3924
?/? c.509-41G>A r.(=) p.(=) g.4788737G>A Copied from the Exome Variant Server MINK1_000070 1/12888 1/8528 0/4360
?/? c.539G>A r.(?) p.(Arg180His) g.4788808G>A Copied from the Exome Variant Server MINK1_000071 1/12706 1/8452 0/4254
?/? c.639+8G>A r.(=) p.(=) g.4788916G>A Copied from the Exome Variant Server MINK1_000072 1/12280 0/8278 1/4002
?/? c.639+41C>T r.(=) p.(=) g.4788949C>T Copied from the Exome Variant Server MINK1_000073 7/12384 6/8320 1/4064
?/? c.639+52A>G r.(=) p.(=) g.4788960A>G Copied from the Exome Variant Server MINK1_000074 1/6722 0/4380 1/2342
?/? c.640-25C>G r.(=) p.(=) g.4789181C>G Copied from the Exome Variant Server MINK1_000075 1/12348 1/8332 0/4016
?/? c.640-9C>T r.(=) p.(=) g.4789197C>T Copied from the Exome Variant Server MINK1_000076 3/12242 3/8300 0/3942
?/? c.690C>A r.(=) p.(=) g.4789256C>A Copied from the Exome Variant Server MINK1_000077 2/12024 0/8222 2/3802
?/? c.694+34G>C r.(=) p.(=) g.4789294G>C Copied from the Exome Variant Server MINK1_000078 6/12174 6/8274 0/3900
?/? c.695-46C>T r.(=) p.(=) g.4789369C>T Copied from the Exome Variant Server MINK1_000079 1/12522 0/8402 1/4120
?/? c.711C>T r.(=) p.(=) g.4789431C>T Copied from the Exome Variant Server MINK1_000080 1/12584 1/8424 0/4160
?/? c.759C>G r.(=) p.(=) g.4789479C>G Copied from the Exome Variant Server MINK1_000081 1/12414 0/8346 1/4068
?/? c.774-50del r.(=) p.(=) g.4789696del Copied from the Exome Variant Server MINK1_000082 13/11948 10/8022 3/3926
?/? c.774-45C>G r.(=) p.(=) g.4789701C>G Copied from the Exome Variant Server MINK1_000083 319/12480 19/8386 300/4094
?/? c.873C>T r.(=) p.(=) g.4789845C>T Copied from the Exome Variant Server MINK1_000084 1/12254 0/8276 1/3978
?/? c.949+19del r.(=) p.(=) g.4789940del Copied from the Exome Variant Server MINK1_000085 134/11804 127/7948 7/3856
?/? c.949+22G>T r.(=) p.(=) g.4789943G>T Copied from the Exome Variant Server MINK1_000086 2/12390 2/8328 0/4062
?/? c.949+40C>T r.(=) p.(=) g.4789961C>T Copied from the Exome Variant Server MINK1_000087 865/12452 733/8342 132/4110
?/? c.950-50G>A r.(=) p.(=) g.4790355G>A Copied from the Exome Variant Server MINK1_000088 2/12040 0/8176 2/3864
?/? c.950-41G>T r.(=) p.(=) g.4790364G>T Copied from the Exome Variant Server MINK1_000089 1/12164 0/8220 1/3944
?/? c.950-20G>C r.(=) p.(=) g.4790385G>C Copied from the Exome Variant Server MINK1_000090 1/12434 1/8334 0/4100
?/? c.950-7C>A r.(=) p.(=) g.4790398C>A Copied from the Exome Variant Server MINK1_000091 3/12510 0/8370 3/4140
?/? c.978C>T r.(=) p.(=) g.4790433C>T Copied from the Exome Variant Server MINK1_000092 2/12680 1/8460 1/4220
?/? c.1019+18A>C r.(=) p.(=) g.4790492A>C Copied from the Exome Variant Server MINK1_000093 1/12632 0/8438 1/4194
?/? c.1019+36C>T r.(=) p.(=) g.4790510C>T Copied from the Exome Variant Server MINK1_000094 2/12582 2/8416 0/4166
?/? c.1019+39C>T r.(=) p.(=) g.4790513C>T Copied from the Exome Variant Server MINK1_000095 3/12554 3/8402 0/4152
?/? c.1019+40G>A r.(=) p.(=) g.4790514G>A Copied from the Exome Variant Server MINK1_000096 1/12524 1/8384 0/4140
?/? c.1019+47G>T r.(=) p.(=) g.4790521G>T Copied from the Exome Variant Server MINK1_000097 1/12516 0/8372 1/4144
?/? c.1047G>A r.(=) p.(=) g.4790902G>A Copied from the Exome Variant Server MINK1_000098 2/12316 2/8310 0/4006
?/? c.1098A>G r.(=) p.(=) g.4790953A>G Copied from the Exome Variant Server MINK1_000099 424/12342 5/8362 419/3980
?/? c.1125_1127del r.(?) p.(Gln380del) g.4790980_4790982del Copied from the Exome Variant Server MINK1_000100 255/11412 185/7734 70/3678
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