Full data view for gene HNF1A

Information The variants shown are described using the NM_000545.5 transcript reference sequence.

135 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.-5G>A r.(=) p.(=) g.121416567G>A Copied from the Exome Variant Server HNF1A_000001 1/12824 0/8480 1/4344 - - - - - - -
?/? c.51C>G r.(=) p.(=) g.121416622C>G Copied from the Exome Variant Server HNF1A_000002 5423/12990 3915/8588 1508/4402 - - - - - - -
?/? c.79A>C r.(?) p.(Ile27Leu) g.121416650A>C Copied from the Exome Variant Server HNF1A_000003 3413/13002 2881/8596 532/4406 - - - - - - -
?/? c.92G>A r.(?) p.(Gly31Asp) g.121416663G>A Copied from the Exome Variant Server HNF1A_000004 8/13006 7/8600 1/4406 - - - - - - -
?/? c.100G>A r.(?) p.(Gly34Arg) g.121416671G>A Copied from the Exome Variant Server HNF1A_000005 1/13004 0/8598 1/4406 - - - - - - -
?/? c.102G>A r.(=) p.(=) g.121416673G>A Copied from the Exome Variant Server HNF1A_000006 1/13002 1/8596 0/4406 - - - - - - -
?/? c.139G>C r.(?) p.(Gly47Arg) g.121416710G>C Copied from the Exome Variant Server HNF1A_000007 1/12988 1/8584 0/4404 - - - - - - -
?/? c.156C>T r.(=) p.(=) g.121416727C>T Copied from the Exome Variant Server HNF1A_000008 2/12970 2/8580 0/4390 - - - - - - -
?/? c.185A>G r.(?) p.(Asn62Ser) g.121416756A>G Copied from the Exome Variant Server HNF1A_000009 2/12972 2/8584 0/4388 - - - - - - -
?/? c.210C>T r.(=) p.(=) g.121416781C>T Copied from the Exome Variant Server HNF1A_000010 13/12984 1/8588 12/4396 - - - - - - -
?/? c.216C>T r.(=) p.(=) g.121416787C>T Copied from the Exome Variant Server HNF1A_000011 1/12992 1/8592 0/4400 - - - - - - -
?/? c.236A>T r.(?) p.(Glu79Val) g.121416807A>T Copied from the Exome Variant Server HNF1A_000012 1/13002 1/8596 0/4406 - - - - - - -
?/? c.252C>T r.(=) p.(=) g.121416823C>T Copied from the Exome Variant Server HNF1A_000013 24/13004 0/8598 24/4406 - - - - - - -
?/? c.257T>A r.(?) p.(Leu86His) g.121416828T>A Copied from the Exome Variant Server HNF1A_000014 1/13004 1/8598 0/4406 - - - - - - -
?/? c.276C>T r.(=) p.(=) g.121416847C>T Copied from the Exome Variant Server HNF1A_000015 50/12990 0/8592 50/4398 - - - - - - -
?/? c.290C>T r.(?) p.(Ala97Val) g.121416861C>T Copied from the Exome Variant Server HNF1A_000016 1/12986 0/8586 1/4400 - - - - - - -
?/? c.293C>T r.(?) p.(Ala98Val) g.121416864C>T Copied from the Exome Variant Server HNF1A_000017 241/12970 220/8570 21/4400 - - - - - - -
?/? c.307G>A r.(?) p.(Val103Met) g.121416878G>A Copied from the Exome Variant Server HNF1A_000018 1/12942 1/8550 0/4392 - - - - - - -
?/? c.326+5_326+6insGAGCC r.spl? p.? g.121416902_121416903insGAGCC Copied from the Exome Variant Server HNF1A_000019 63/12276 6/8078 57/4198 - - - - - - -
?/? c.326+11C>T r.(=) p.(=) g.121416908C>T Copied from the Exome Variant Server HNF1A_000020 1/12820 1/8472 0/4348 - - - - - - -
?/? c.326+20C>A r.(=) p.(=) g.121416917C>A Copied from the Exome Variant Server HNF1A_000021 89/12696 0/8376 89/4320 - - - - - - -
?/? c.326+47del r.(=) p.(=) g.121416944del Copied from the Exome Variant Server HNF1A_000022 13/11220 8/7452 5/3768 - - - - - - -
?/? c.327-46G>C r.(=) p.(=) g.121426590G>C Copied from the Exome Variant Server HNF1A_000023 8/13006 0/8600 8/4406 - - - - - - -
?/? c.327-42G>A r.(=) p.(=) g.121426594G>A Copied from the Exome Variant Server HNF1A_000024 3545/13006 2822/8600 723/4406 - - - - - - -
?/? c.327-40C>T r.(=) p.(=) g.121426596C>T Copied from the Exome Variant Server HNF1A_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.327-30T>C r.(=) p.(=) g.121426606T>C Copied from the Exome Variant Server HNF1A_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.327-21C>A r.(=) p.(=) g.121426615C>A Copied from the Exome Variant Server HNF1A_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.336G>A r.(=) p.(=) g.121426645G>A Copied from the Exome Variant Server HNF1A_000028 4/13006 4/8600 0/4406 - - - - - - -
?/? c.341G>A r.(?) p.(Arg114His) g.121426650G>A Copied from the Exome Variant Server HNF1A_000029 3/13006 1/8600 2/4406 - - - - - - -
?/? c.408C>G r.(=) p.(=) g.121426717C>G Copied from the Exome Variant Server HNF1A_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.467C>T r.(?) p.(Thr156Met) g.121426776C>T Copied from the Exome Variant Server HNF1A_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.480C>T r.(=) p.(=) g.121426789C>T Copied from the Exome Variant Server HNF1A_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A Copied from the Exome Variant Server HNF1A_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.499G>A r.(?) p.(Val167Ile) g.121426808G>A Copied from the Exome Variant Server HNF1A_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.503G>A r.(?) p.(Arg168His) g.121426812G>A Copied from the Exome Variant Server HNF1A_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507G>A r.(=) p.(=) g.121426816G>A Copied from the Exome Variant Server HNF1A_000036 1/13006 0/8600 1/4406 - - - - - - -
?/? c.522G>A r.(=) p.(=) g.121426831G>A Copied from the Exome Variant Server HNF1A_000037 2/13006 0/8600 2/4406 - - - - - - -
?/? c.524A>G r.(?) p.(Gln175Arg) g.121426833A>G Copied from the Exome Variant Server HNF1A_000038 5/13006 0/8600 5/4406 - - - - - - -
?/? c.527-51T>A r.(=) p.(=) g.121431272T>A Copied from the Exome Variant Server HNF1A_000039 3153/13006 2052/8600 1101/4406 - - - - - - -
?/? c.527-23C>T r.(=) p.(=) g.121431300C>T Copied from the Exome Variant Server HNF1A_000040 3242/13006 2681/8600 561/4406 - - - - - - -
?/? c.527-18G>A r.(=) p.(=) g.121431305G>A Copied from the Exome Variant Server HNF1A_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.586A>G r.(?) p.(Thr196Ala) g.121431382A>G Copied from the Exome Variant Server HNF1A_000042 3/13006 1/8600 2/4406 - - - - - - -
?/? c.693G>A r.(=) p.(=) g.121431489G>A Copied from the Exome Variant Server HNF1A_000043 3/13006 3/8600 0/4406 - - - - - - -
?/? c.713+14C>T r.(=) p.(=) g.121431523C>T Copied from the Exome Variant Server HNF1A_000044 1/13004 1/8600 0/4404 - - - - - - -
?/? c.713+15G>A r.(=) p.(=) g.121431524G>A Copied from the Exome Variant Server HNF1A_000045 1/13004 0/8600 1/4404 - - - - - - -
?/? c.717G>A r.(=) p.(=) g.121431970G>A Copied from the Exome Variant Server HNF1A_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.827C>G r.(?) p.(Ala276Gly) g.121432080C>G Copied from the Exome Variant Server HNF1A_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.862del r.(?) p.(Pro291Glnfs*51) g.121432115del Copied from the Exome Variant Server HNF1A_000048 3084/12510 2268/8248 816/4262 - - - - - - -
?/? c.864G>C r.(=) p.(=) g.121432117G>C Copied from the Exome Variant Server HNF1A_000050 3066/13004 2264/8598 802/4406 - - - - - - -
?/? c.871C>T r.(?) p.(Pro291Ser) g.121432124C>T Copied from the Exome Variant Server HNF1A_000049 2/13002 2/8596 0/4406 - - - - - - -
?/? c.872C>T r.(?) p.(Pro291Leu) g.121432125C>T Copied from the Exome Variant Server HNF1A_000051 1/13002 1/8596 0/4406 - - - - - - -
?/? c.955+29G>A r.(=) p.(=) g.121432237G>A Copied from the Exome Variant Server HNF1A_000052 1/12966 0/8574 1/4392 - - - - - - -
?/? c.955+37G>A r.(=) p.(=) g.121432245G>A Copied from the Exome Variant Server HNF1A_000053 2/12966 0/8574 2/4392 - - - - - - -
?/? c.955+53del r.(=) p.(=) g.121432261del Copied from the Exome Variant Server HNF1A_000054 2/12470 1/8226 1/4244 - - - - - - -
?/? c.956-35G>C r.(=) p.(=) g.121434030G>C Copied from the Exome Variant Server HNF1A_000055 1/13006 0/8600 1/4406 - - - - - - -
?/? c.956-32G>A r.(=) p.(=) g.121434033G>A Copied from the Exome Variant Server HNF1A_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.956-6C>A r.(=) p.(=) g.121434059C>A Copied from the Exome Variant Server HNF1A_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.965A>G r.(?) p.(Tyr322Cys) g.121434074A>G Copied from the Exome Variant Server HNF1A_000058 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1062G>A r.(=) p.(=) g.121434171G>A Copied from the Exome Variant Server HNF1A_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1071G>A r.(=) p.(=) g.121434180G>A Copied from the Exome Variant Server HNF1A_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1107+9C>G r.(=) p.(=) g.121434225C>G Copied from the Exome Variant Server HNF1A_000061 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1107+10C>T r.(=) p.(=) g.121434226C>T Copied from the Exome Variant Server HNF1A_000062 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1108-42G>T r.(=) p.(=) g.121434302G>T Copied from the Exome Variant Server HNF1A_000063 172/13006 148/8600 24/4406 - - - - - - -
?/? c.1108-36C>T r.(=) p.(=) g.121434308C>T Copied from the Exome Variant Server HNF1A_000064 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1108-31C>A r.(=) p.(=) g.121434313C>A Copied from the Exome Variant Server HNF1A_000065 3/13002 0/8600 3/4402 - - - - - - -
?/? c.1108-27C>T r.(=) p.(=) g.121434317C>T Copied from the Exome Variant Server HNF1A_000066 50/13002 45/8600 5/4402 - - - - - - -
?/? c.1108-4G>A r.spl? p.? g.121434340G>A Copied from the Exome Variant Server HNF1A_000067 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1136C>A r.(?) p.(Pro379His) g.121434372C>A Copied from the Exome Variant Server HNF1A_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1165T>G r.(?) p.(Leu389Val) g.121434401T>G Copied from the Exome Variant Server HNF1A_000069 27/13006 0/8600 27/4406 - - - - - - -
?/? c.1226C>A r.(?) p.(Pro409His) g.121434462C>A Copied from the Exome Variant Server HNF1A_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1230G>C r.(=) p.(=) g.121434466G>C Copied from the Exome Variant Server HNF1A_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1243G>A r.(?) p.(Gly415Arg) g.121434479G>A Copied from the Exome Variant Server HNF1A_000072 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1249G>T r.(?) p.(Gly417Cys) g.121434485G>T Copied from the Exome Variant Server HNF1A_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1272T>C r.(=) p.(=) g.121434508T>C Copied from the Exome Variant Server HNF1A_000074 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1275G>A r.(=) p.(=) g.121434511G>A Copied from the Exome Variant Server HNF1A_000075 4/13006 2/8600 2/4406 - - - - - - -
?/? c.1308C>T r.(=) p.(=) g.121434544C>T Copied from the Exome Variant Server HNF1A_000076 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1309+17G>A r.(=) p.(=) g.121434562G>A Copied from the Exome Variant Server HNF1A_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1309+26C>T r.(=) p.(=) g.121434571C>T Copied from the Exome Variant Server HNF1A_000078 117/13006 1/8600 116/4406 - - - - - - -
?/? c.1309+31G>A r.(=) p.(=) g.121434576G>A Copied from the Exome Variant Server HNF1A_000079 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1309+52C>T r.(=) p.(=) g.121434597C>T Copied from the Exome Variant Server HNF1A_000080 41/7270 1/4616 40/2654 - - - - - - -
?/? c.1322C>A r.(?) p.(Thr441Lys) g.121435289C>A Copied from the Exome Variant Server HNF1A_000081 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1323G>A r.(=) p.(=) g.121435290G>A Copied from the Exome Variant Server HNF1A_000082 12/13004 0/8598 12/4406 - - - - - - -
?/? c.1326G>A r.(=) p.(=) g.121435293G>A Copied from the Exome Variant Server HNF1A_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1375C>T r.(=) p.(=) g.121435342C>T Copied from the Exome Variant Server HNF1A_000084 3204/13004 2675/8598 529/4406 - - - - - - -
?/? c.1386C>T r.(=) p.(=) g.121435353C>T Copied from the Exome Variant Server HNF1A_000085 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1395C>T r.(=) p.(=) g.121435362C>T Copied from the Exome Variant Server HNF1A_000086 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1424C>T r.(?) p.(Pro475Leu) g.121435391C>T Copied from the Exome Variant Server HNF1A_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1425G>A r.(=) p.(=) g.121435392G>A Copied from the Exome Variant Server HNF1A_000088 37/13006 1/8600 36/4406 - - - - - - -
?/? c.1446C>T r.(=) p.(=) g.121435413C>T Copied from the Exome Variant Server HNF1A_000089 10/13006 0/8600 10/4406 - - - - - - -
?/? c.1460G>A r.(?) p.(Ser487Asn) g.121435427G>A Copied from the Exome Variant Server HNF1A_000090 3217/13006 2676/8600 541/4406 - - - - - - -
?/? c.1477_1478del r.(?) p.(Met493Glyfs*55) g.121435444_121435445del Copied from the Exome Variant Server HNF1A_000091 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1497C>A r.(=) p.(=) g.121435464C>A Copied from the Exome Variant Server HNF1A_000092 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1500C>T r.(=) p.(=) g.121435467C>T Copied from the Exome Variant Server HNF1A_000093 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1501G>A r.(?) p.(Ala501Thr) g.121435468G>A Copied from the Exome Variant Server HNF1A_000095 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1501+6C>T r.(=) p.(=) g.121435474C>T Copied from the Exome Variant Server HNF1A_000097 7/13002 0/8596 7/4406 - - - - - - -
?/? c.1501+7G>A r.(=) p.(=) g.121435475G>A Copied from the Exome Variant Server HNF1A_000099 3772/13004 3150/8598 622/4406 - - - - - - -
?/? c.1502-37C>T r.(=) p.(=) g.121437034C>T Copied from the Exome Variant Server HNF1A_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1502-36G>A r.(=) p.(=) g.121437035G>A Copied from the Exome Variant Server HNF1A_000103 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1502-19_1502-18del r.(=) p.(=) g.121437052_121437053del Copied from the Exome Variant Server HNF1A_000106 4/12516 2/8252 2/4264 - - - - - - -
?/? c.1502-9T>C r.(=) p.(=) g.121437062T>C Copied from the Exome Variant Server HNF1A_000094 2/13004 0/8598 2/4406 - - - - - - -
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