Full data view for gene HMMR

Information The variants shown are described using the NM_012484.2 transcript reference sequence.

146 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.-74G>T r.(=) p.(=) g.162887625G>T Copied from the Exome Variant Server HMMR_000001 8/4566 0/3182 8/1384 - - - - - - -
?/? c.-70_-64del r.(=) p.(=) g.162887629_162887635del Copied from the Exome Variant Server HMMR_000002 164/12474 1/8228 163/4246 - - - - - - -
?/? c.-51C>T r.(=) p.(=) g.162887648C>T Copied from the Exome Variant Server HMMR_000003 496/13006 426/8600 70/4406 - - - - - - -
?/? c.-49G>A r.(=) p.(=) g.162887650G>A Copied from the Exome Variant Server HMMR_000004 2413/13006 1945/8600 468/4406 - - - - - - -
?/? c.-20T>A r.(=) p.(=) g.162887679T>A Copied from the Exome Variant Server HMMR_000005 9/13006 0/8600 9/4406 - - - - - - -
?/? c.-11T>C r.(=) p.(=) g.162887688T>C Copied from the Exome Variant Server HMMR_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-9G>A r.(=) p.(=) g.162887690G>A Copied from the Exome Variant Server HMMR_000007 136/13006 2/8600 134/4406 - - - - - - -
?/? c.46+7A>G r.(=) p.(=) g.162887751A>G Copied from the Exome Variant Server HMMR_000008 2/13004 2/8598 0/4406 - - - - - - -
?/? c.46+11G>C r.(=) p.(=) g.162887755G>C Copied from the Exome Variant Server HMMR_000009 2/13004 2/8598 0/4406 - - - - - - -
?/? c.46+26G>T r.(=) p.(=) g.162887770G>T Copied from the Exome Variant Server HMMR_000010 1/13002 0/8598 1/4404 - - - - - - -
?/? c.47-26A>G r.(=) p.(=) g.162890836A>G Copied from the Exome Variant Server HMMR_000011 3/12882 0/8528 3/4354 - - - - - - -
?/? c.85T>G r.(?) p.(Leu29Val) g.162890900T>G Copied from the Exome Variant Server HMMR_000012 1/12972 0/8568 1/4404 - - - - - - -
?/? c.86T>C r.(?) p.(Leu29Ser) g.162890901T>C Copied from the Exome Variant Server HMMR_000014 2/12968 2/8564 0/4404 - - - - - - -
?/? c.146-40T>C r.(=) p.(=) g.162891689T>C Copied from the Exome Variant Server HMMR_000016 2/13006 2/8600 0/4406 - - - - - - -
?/? c.146-35A>G r.(=) p.(=) g.162891694A>G Copied from the Exome Variant Server HMMR_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.146-17del r.(=) p.(=) g.162891712del Copied from the Exome Variant Server HMMR_000020 7/12518 7/8254 0/4264 - - - - - - -
?/? c.146-4G>A r.spl? p.? g.162891725G>A Copied from the Exome Variant Server HMMR_000013 34/13006 18/8600 16/4406 - - - - - - -
?/? c.215C>G r.(?) p.(Ser72Trp) g.162891798C>G Copied from the Exome Variant Server HMMR_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.225+21A>C r.(=) p.(=) g.162891829A>C Copied from the Exome Variant Server HMMR_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.226-56G>C r.(=) p.(=) g.162894654G>C Copied from the Exome Variant Server HMMR_000019 332/4564 156/3180 176/1384 - - - - - - -
?/? c.226-47G>T r.(=) p.(=) g.162894663G>T Copied from the Exome Variant Server HMMR_000021 1/12996 0/8592 1/4404 - - - - - - -
?/? c.226-17T>A r.(=) p.(=) g.162894693T>A Copied from the Exome Variant Server HMMR_000022 1/13000 1/8596 0/4404 - - - - - - -
?/? c.235A>G r.(?) p.(Lys79Glu) g.162894719A>G Copied from the Exome Variant Server HMMR_000023 2/12998 2/8592 0/4406 - - - - - - -
?/? c.239A>G r.(?) p.(Asn80Ser) g.162894723A>G Copied from the Exome Variant Server HMMR_000024 1/12998 1/8592 0/4406 - - - - - - -
?/? c.270+40_270+43del r.(=) p.(=) g.162894794_162894797del Copied from the Exome Variant Server HMMR_000025 2/12506 2/8244 0/4262 - - - - - - -
?/? c.274C>T r.(?) p.(Arg92Cys) g.162896650C>T Copied from the Exome Variant Server HMMR_000026 1403/13006 1012/8600 391/4406 - - - - - - -
?/? c.285A>G r.(=) p.(=) g.162896661A>G Copied from the Exome Variant Server HMMR_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.310C>T r.(?) p.(Arg104Trp) g.162896686C>T Copied from the Exome Variant Server HMMR_000028 39/13006 0/8600 39/4406 - - - - - - -
?/? c.366A>G r.(=) p.(=) g.162896742A>G Copied from the Exome Variant Server HMMR_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.374A>G r.(?) p.(Glu125Gly) g.162896750A>G Copied from the Exome Variant Server HMMR_000030 1/13006 0/8600 1/4406 - - - - - - -
?/? c.383C>G r.(?) p.(Ser128Cys) g.162896759C>G Copied from the Exome Variant Server HMMR_000031 117/13006 112/8600 5/4406 - - - - - - -
?/? c.403A>G r.(?) p.(Thr135Ala) g.162896779A>G Copied from the Exome Variant Server HMMR_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.411A>G r.(=) p.(=) g.162896787A>G Copied from the Exome Variant Server HMMR_000033 62/13006 1/8600 61/4406 - - - - - - -
?/? c.441T>A r.(?) p.(Asn147Lys) g.162896817T>A Copied from the Exome Variant Server HMMR_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.459+21T>C r.(=) p.(=) g.162896856T>C Copied from the Exome Variant Server HMMR_000035 5037/13006 2554/8600 2483/4406 - - - - - - -
?/? c.460-37A>G r.(=) p.(=) g.162898154A>G Copied from the Exome Variant Server HMMR_000036 2/12828 0/8566 2/4262 - - - - - - -
?/? c.460-18C>T r.(=) p.(=) g.162898173C>T Copied from the Exome Variant Server HMMR_000037 4/12960 2/8596 2/4364 - - - - - - -
?/? c.460-17G>A r.(=) p.(=) g.162898174G>A Copied from the Exome Variant Server HMMR_000038 2/12980 0/8600 2/4380 - - - - - - -
?/? c.501C>T r.(=) p.(=) g.162898232C>T Copied from the Exome Variant Server HMMR_000039 2/13006 0/8600 2/4406 - - - - - - -
?/? c.546+1G>A r.spl? p.? g.162898278G>A Copied from the Exome Variant Server HMMR_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.546+2T>C r.spl? p.? g.162898279T>C Copied from the Exome Variant Server HMMR_000041 2/13006 0/8600 2/4406 - - - - - - -
?/? c.546+10G>C r.(=) p.(=) g.162898287G>C Copied from the Exome Variant Server HMMR_000042 52/13006 0/8600 52/4406 - - - - - - -
?/? c.546+31_546+32del r.(=) p.(=) g.162898308_162898309del Copied from the Exome Variant Server HMMR_000043 14/12518 6/8254 8/4264 - - - - - - -
?/? c.606C>G r.(=) p.(=) g.162898428C>G Copied from the Exome Variant Server HMMR_000044 4/13006 4/8600 0/4406 - - - - - - -
?/? c.607G>A r.(?) p.(Glu203Lys) g.162898429G>A Copied from the Exome Variant Server HMMR_000045 3/13006 3/8600 0/4406 - - - - - - -
?/? c.640G>A r.(?) p.(Gly214Arg) g.162898462G>A Copied from the Exome Variant Server HMMR_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.647+25A>G r.(=) p.(=) g.162898494A>G Copied from the Exome Variant Server HMMR_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.648-40C>T r.(=) p.(=) g.162900145C>T Copied from the Exome Variant Server HMMR_000048 1/12670 1/8408 0/4262 - - - - - - -
?/? c.648-35C>T r.(=) p.(=) g.162900150C>T Copied from the Exome Variant Server HMMR_000049 2/12686 0/8420 2/4266 - - - - - - -
?/? c.648-28G>A r.(=) p.(=) g.162900157G>A Copied from the Exome Variant Server HMMR_000050 82/12716 71/8434 11/4282 - - - - - - -
?/? c.648-23A>G r.(=) p.(=) g.162900162A>G Copied from the Exome Variant Server HMMR_000051 1/12732 1/8442 0/4290 - - - - - - -
?/? c.648-14A>C r.(=) p.(=) g.162900171A>C Copied from the Exome Variant Server HMMR_000052 1/12778 1/8470 0/4308 - - - - - - -
?/? c.648-7G>A r.(=) p.(=) g.162900178G>A Copied from the Exome Variant Server HMMR_000053 4/12802 0/8484 4/4318 - - - - - - -
?/? c.711C>A r.(=) p.(=) g.162900248C>A Copied from the Exome Variant Server HMMR_000054 1/12900 1/8542 0/4358 - - - - - - -
?/? c.722+24T>C r.(=) p.(=) g.162900283T>C Copied from the Exome Variant Server HMMR_000055 1/12908 0/8554 1/4354 - - - - - - -
?/? c.722+33del r.(=) p.(=) g.162900292del Copied from the Exome Variant Server HMMR_000056 1/12412 1/8204 0/4208 - - - - - - -
?/? c.723-28C>A r.(=) p.(=) g.162900357C>A Copied from the Exome Variant Server HMMR_000057 1/12994 0/8588 1/4406 - - - - - - -
?/? c.764C>T r.(?) p.(Ala255Val) g.162900426C>T Copied from the Exome Variant Server HMMR_000058 99/12990 5/8584 94/4406 - - - - - - -
?/? c.794A>G r.(?) p.(Asn265Ser) g.162900456A>G Copied from the Exome Variant Server HMMR_000059 1/12992 1/8586 0/4406 - - - - - - -
?/? c.819G>C r.(?) p.(Gln273His) g.162900481G>C Copied from the Exome Variant Server HMMR_000060 1/12984 1/8578 0/4406 - - - - - - -
?/? c.831G>C r.(?) p.(Glu277Asp) g.162900493G>C Copied from the Exome Variant Server HMMR_000061 54/12980 1/8580 53/4400 - - - - - - -
?/? c.836_837del r.(?) p.(Ile279Serfs*5) g.162900498_162900499del Copied from the Exome Variant Server HMMR_000062 1/12482 0/8232 1/4250 - - - - - - -
?/? c.901+1G>T r.spl? p.? g.162900564G>T Copied from the Exome Variant Server HMMR_000063 1/12934 1/8560 0/4374 - - - - - - -
?/? c.901+14T>C r.(=) p.(=) g.162900577T>C Copied from the Exome Variant Server HMMR_000064 1/12876 1/8536 0/4340 - - - - - - -
?/? c.902-24T>C r.(=) p.(=) g.162901039T>C Copied from the Exome Variant Server HMMR_000065 85/13002 0/8598 85/4404 - - - - - - -
?/? c.902-9G>A r.(=) p.(=) g.162901054G>A Copied from the Exome Variant Server HMMR_000066 3/13004 1/8598 2/4406 - - - - - - -
?/? c.911T>G r.(?) p.(Val304Gly) g.162901072T>G Copied from the Exome Variant Server HMMR_000067 1/13004 0/8598 1/4406 - - - - - - -
?/? c.960C>G r.(?) p.(Asn320Lys) g.162901121C>G Copied from the Exome Variant Server HMMR_000068 2/13006 0/8600 2/4406 - - - - - - -
?/? c.970A>C r.(?) p.(Lys324Gln) g.162901131A>C Copied from the Exome Variant Server HMMR_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.995G>A r.(?) p.(Arg332His) g.162901156G>A Copied from the Exome Variant Server HMMR_000070 490/13004 435/8598 55/4406 - - - - - - -
?/? c.998A>G r.(?) p.(Glu333Gly) g.162901159A>G Copied from the Exome Variant Server HMMR_000071 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1041A>G r.(=) p.(=) g.162901202A>G Copied from the Exome Variant Server HMMR_000072 1/13000 1/8598 0/4402 - - - - - - -
?/? c.1050+8A>G r.(=) p.(=) g.162901219A>G Copied from the Exome Variant Server HMMR_000073 1/13002 1/8598 0/4404 - - - - - - -
?/? c.1051-34C>T r.(=) p.(=) g.162902430C>T Copied from the Exome Variant Server HMMR_000074 1/13000 0/8600 1/4400 - - - - - - -
?/? c.1051-33A>G r.(=) p.(=) g.162902431A>G Copied from the Exome Variant Server HMMR_000075 12/13000 12/8600 0/4400 - - - - - - -
?/? c.1051G>T r.(?) p.(Glu351*) g.162902464G>T Copied from the Exome Variant Server HMMR_000076 21/13004 21/8598 0/4406 - - - - - - -
?/? c.1061C>T r.(?) p.(Ser354Leu) g.162902474C>T Copied from the Exome Variant Server HMMR_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1064G>A r.(?) p.(Ser355Asn) g.162902477G>A Copied from the Exome Variant Server HMMR_000078 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1093G>A r.(?) p.(Glu365Lys) g.162902506G>A Copied from the Exome Variant Server HMMR_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1103T>C r.(?) p.(Val368Ala) g.162902516T>C Copied from the Exome Variant Server HMMR_000080 3428/13006 2105/8600 1323/4406 - - - - - - -
?/? c.1125G>C r.(?) p.(Glu375Asp) g.162902538G>C Copied from the Exome Variant Server HMMR_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1152G>A r.(=) p.(=) g.162902565G>A Copied from the Exome Variant Server HMMR_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1165C>T r.(?) p.(Gln389*) g.162902578C>T Copied from the Exome Variant Server HMMR_000083 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1173del r.(?) p.(Glu392Argfs*22) g.162902586del Copied from the Exome Variant Server HMMR_000084 25/12518 18/8254 7/4264 - - - - - - -
?/? c.1176G>T r.(?) p.(Glu392Asp) g.162902589G>T Copied from the Exome Variant Server HMMR_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1256A>G r.(?) p.(Lys419Arg) g.162902669A>G Copied from the Exome Variant Server HMMR_000087 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1265+18C>T r.(=) p.(=) g.162902696C>T Copied from the Exome Variant Server HMMR_000089 2/12960 2/8590 0/4370 - - - - - - -
?/? c.1265+29G>A r.(=) p.(=) g.162902707G>A Copied from the Exome Variant Server HMMR_000091 4868/12914 2524/8584 2344/4330 - - - - - - -
?/? c.1266-50G>A r.(=) p.(=) g.162905640G>A Copied from the Exome Variant Server HMMR_000093 1/12998 1/8600 0/4398 - - - - - - -
?/? c.1266-40G>T r.(=) p.(=) g.162905650G>T Copied from the Exome Variant Server HMMR_000095 2/13002 1/8600 1/4402 - - - - - - -
?/? c.1266-18A>G r.(=) p.(=) g.162905672A>G Copied from the Exome Variant Server HMMR_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1317G>A r.(=) p.(=) g.162905741G>A Copied from the Exome Variant Server HMMR_000086 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1332G>A r.(=) p.(=) g.162905756G>A Copied from the Exome Variant Server HMMR_000088 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1383-20del r.(=) p.(=) g.162909628del Copied from the Exome Variant Server HMMR_000090 19/12480 12/8246 7/4234 - - - - - - -
?/? c.1386del r.(?) p.(Tyr462*) g.162909651del Copied from the Exome Variant Server HMMR_000092 4/12514 0/8254 4/4260 - - - - - - -
?/? c.1392G>A r.(=) p.(=) g.162909657G>A Copied from the Exome Variant Server HMMR_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1399G>A r.(?) p.(Ala467Thr) g.162909664G>A Copied from the Exome Variant Server HMMR_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1402A>G r.(?) p.(Ser468Gly) g.162909667A>G Copied from the Exome Variant Server HMMR_000098 35/13006 31/8600 4/4406 - - - - - - -
?/? c.1422G>A r.(=) p.(=) g.162909687G>A Copied from the Exome Variant Server HMMR_000099 1550/13006 952/8600 598/4406 - - - - - - -
?/? c.1426G>A r.(?) p.(Glu476Lys) g.162909691G>A Copied from the Exome Variant Server HMMR_000100 11/13006 0/8600 11/4406 - - - - - - -
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