Full data view for gene RB1

Information The variants shown are described using the NM_000321.2 transcript reference sequence.

190 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.37_45del r.(?) p.(Ala16_Ala18del) g.48878085_48878093del Copied from the Exome Variant Server RB1_000001 32/3130 0/2346 32/784 - - - - - - -
?/? c.67_69del r.(?) p.(Pro29del) g.48878115_48878117del Copied from the Exome Variant Server RB1_000002 19/4336 13/3068 6/1268 - - - - - - -
?/? c.138-40A>G r.(=) p.(=) g.48881376A>G Copied from the Exome Variant Server RB1_000003 2/13002 0/8596 2/4406 - - - - - - -
?/? c.138-37A>G r.(=) p.(=) g.48881379A>G Copied from the Exome Variant Server RB1_000004 6/13002 0/8596 6/4406 - - - - - - -
?/? c.138-20T>C r.(=) p.(=) g.48881396T>C Copied from the Exome Variant Server RB1_000005 3/13004 3/8598 0/4406 - - - - - - -
?/? c.214G>A r.(?) p.(Glu72Lys) g.48881492G>A Copied from the Exome Variant Server RB1_000006 1/13002 0/8596 1/4406 - - - - - - -
?/? c.266G>A r.(?) p.(Gly89Glu) g.48916736G>A Copied from the Exome Variant Server RB1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.323T>C r.(?) p.(Val108Ala) g.48916793T>C Copied from the Exome Variant Server RB1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.341C>T r.(?) p.(Ser114Leu) g.48916811C>T Copied from the Exome Variant Server RB1_000012 1/13004 1/8598 0/4406 - - - - - - -
?/? c.367A>G r.(?) p.(Asn123Asp) g.48916837A>G Copied from the Exome Variant Server RB1_000014 2/13006 2/8600 0/4406 - - - - - - -
?/? c.380+10C>G r.(=) p.(=) g.48916860C>G Copied from the Exome Variant Server RB1_000016 23/13002 21/8596 2/4406 - - - - - - -
?/? c.380+12T>C r.(=) p.(=) g.48916862T>C Copied from the Exome Variant Server RB1_000018 140/13002 0/8596 140/4406 - - - - - - -
?/? c.380+37A>G r.(=) p.(=) g.48916887A>G Copied from the Exome Variant Server RB1_000020 81/12984 73/8588 8/4396 - - - - - - -
?/? c.380+45C>T r.(=) p.(=) g.48916895C>T Copied from the Exome Variant Server RB1_000022 2746/12984 2096/8588 650/4396 - - - - - - -
?/? c.381-50A>G r.(=) p.(=) g.48919166A>G Copied from the Exome Variant Server RB1_000024 1/12932 1/8550 0/4382 - - - - - - -
?/? c.411A>T r.(?) p.(Glu137Asp) g.48919246A>T Copied from the Exome Variant Server RB1_000026 9/12990 9/8588 0/4402 - - - - - - -
?/? c.462G>A r.(=) p.(=) g.48919297G>A Copied from the Exome Variant Server RB1_000028 1/12988 1/8584 0/4404 - - - - - - -
?/? c.500+23T>G r.(=) p.(=) g.48919358T>G Copied from the Exome Variant Server RB1_000030 12057/12988 8410/8582 3647/4406 - - - - - - -
?/? c.500+46A>G r.(=) p.(=) g.48919381A>G Copied from the Exome Variant Server RB1_000032 85/12988 0/8586 85/4402 - - - - - - -
?/? c.501-77A>G r.(=) p.(=) g.48921884A>G Copied from the Exome Variant Server RB1_000007 4171/4522 3078/3138 1093/1384 - - - - - - -
?/? c.501-38G>A r.(=) p.(=) g.48921923G>A Copied from the Exome Variant Server RB1_000009 126/12926 2/8538 124/4388 - - - - - - -
?/? c.501-22G>T r.(=) p.(=) g.48921939G>T Copied from the Exome Variant Server RB1_000011 1/12930 0/8544 1/4386 - - - - - - -
?/? c.539C>T r.(?) p.(Ser180Leu) g.48921999C>T Copied from the Exome Variant Server RB1_000013 1/12948 1/8552 0/4396 - - - - - - -
?/? c.539+12A>G r.(=) p.(=) g.48922011A>G Copied from the Exome Variant Server RB1_000015 1/12938 0/8546 1/4392 - - - - - - -
?/? c.539+42G>C r.(=) p.(=) g.48922041G>C Copied from the Exome Variant Server RB1_000017 2/12852 2/8498 0/4354 - - - - - - -
?/? c.539+43A>G r.(=) p.(=) g.48922042A>G Copied from the Exome Variant Server RB1_000019 2/12852 2/8498 0/4354 - - - - - - -
?/? c.540-33C>T r.(=) p.(=) g.48923059C>T Copied from the Exome Variant Server RB1_000021 3/12926 3/8546 0/4380 - - - - - - -
?/? c.540-31_540-30insT r.(=) p.(=) g.48923061_48923062insT Copied from the Exome Variant Server RB1_000023 29/12414 13/8190 16/4224 - - - - - - -
?/? c.540-28T>G r.(=) p.(=) g.48923064T>G Copied from the Exome Variant Server RB1_000025 1/12922 1/8544 0/4378 - - - - - - -
?/? c.540-14T>C r.(=) p.(=) g.48923078T>C Copied from the Exome Variant Server RB1_000027 4/12932 0/8548 4/4384 - - - - - - -
?/? c.608-46G>T r.(=) p.(=) g.48934107G>T Copied from the Exome Variant Server RB1_000029 3/12988 3/8584 0/4404 - - - - - - -
?/? c.608-31_608-28del r.(=) p.(=) g.48934122_48934125del Copied from the Exome Variant Server RB1_000031 31/12502 15/8242 16/4260 - - - - - - -
?/? c.608-12del r.(=) p.(=) g.48934141del Copied from the Exome Variant Server RB1_000034 59/12506 34/8242 25/4264 - - - - - - -
?/? c.608-12dup r.(=) p.(=) g.48934141dup Copied from the Exome Variant Server RB1_000033 38/12506 27/8242 11/4264 - - - - - - -
?/? c.628G>T r.(?) p.(Asp210Tyr) g.48934173G>T Copied from the Exome Variant Server RB1_000035 1/13004 1/8598 0/4406 - - - - - - -
?/? c.634C>T r.(=) p.(=) g.48934179C>T Copied from the Exome Variant Server RB1_000036 1/13004 1/8598 0/4406 - - - - - - -
?/? c.658C>T r.(=) p.(=) g.48934203C>T Copied from the Exome Variant Server RB1_000037 1/13002 1/8596 0/4406 - - - - - - -
?/? c.718+26T>C r.(=) p.(=) g.48934289T>C Copied from the Exome Variant Server RB1_000038 9/12988 9/8584 0/4404 - - - - - - -
?/? c.718+35A>T r.(=) p.(=) g.48934298A>T Copied from the Exome Variant Server RB1_000039 142/12988 1/8584 141/4404 - - - - - - -
?/? c.731T>C r.(?) p.(Ile244Thr) g.48936963T>C Copied from the Exome Variant Server RB1_000040 3/13006 3/8600 0/4406 - - - - - - -
?/? c.861+6T>C r.(=) p.(=) g.48937099T>C Copied from the Exome Variant Server RB1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.861+37G>A r.(=) p.(=) g.48937130G>A Copied from the Exome Variant Server RB1_000042 1/13002 1/8598 0/4404 - - - - - - -
?/? c.862-50A>C r.(=) p.(=) g.48938980A>C Copied from the Exome Variant Server RB1_000043 17/11646 0/7690 17/3956 - - - - - - -
?/? c.862-29T>C r.(=) p.(=) g.48939001T>C Copied from the Exome Variant Server RB1_000044 11/12216 0/8062 11/4154 - - - - - - -
?/? c.862-15C>A r.(=) p.(=) g.48939015C>A Copied from the Exome Variant Server RB1_000045 41/12430 0/8212 41/4218 - - - - - - -
?/? c.920C>T r.(?) p.(Thr307Ile) g.48939088C>T Copied from the Exome Variant Server RB1_000046 10/12762 8/8480 2/4282 - - - - - - -
?/? c.929G>A r.(?) p.(Gly310Glu) g.48939097G>A Copied from the Exome Variant Server RB1_000047 2/12730 2/8470 0/4260 - - - - - - -
?/? c.940-41del r.(=) p.(=) g.48941589del Copied from the Exome Variant Server RB1_000048 1/12462 1/8224 0/4238 - - - - - - -
?/? c.940-35T>C r.(=) p.(=) g.48941595T>C Copied from the Exome Variant Server RB1_000049 6/12964 5/8572 1/4392 - - - - - - -
?/? c.963C>T r.(=) p.(=) g.48941653C>T Copied from the Exome Variant Server RB1_000050 1/12958 0/8568 1/4390 - - - - - - -
?/? c.965A>G r.(?) p.(Glu322Gly) g.48941655A>G Copied from the Exome Variant Server RB1_000051 2/12954 0/8564 2/4390 - - - - - - -
?/? c.1049+50C>A r.(=) p.(=) g.48941789C>A Copied from the Exome Variant Server RB1_000052 1/12878 0/8546 1/4332 - - - - - - -
?/? c.1050-30A>G r.(=) p.(=) g.48942633A>G Copied from the Exome Variant Server RB1_000053 1/12998 1/8592 0/4406 - - - - - - -
?/? c.1050-24A>G r.(=) p.(=) g.48942639A>G Copied from the Exome Variant Server RB1_000054 1/12998 0/8592 1/4406 - - - - - - -
?/? c.1050-12A>G r.(=) p.(=) g.48942651A>G Copied from the Exome Variant Server RB1_000055 1/12998 0/8592 1/4406 - - - - - - -
?/? c.1127+27A>C r.(=) p.(=) g.48942767A>C Copied from the Exome Variant Server RB1_000056 1/12982 1/8580 0/4402 - - - - - - -
?/? c.1128-53del r.(=) p.(=) g.48947488del Copied from the Exome Variant Server RB1_000057 4/12484 0/8220 4/4264 - - - - - - -
?/? c.1128-38C>T r.(=) p.(=) g.48947503C>T Copied from the Exome Variant Server RB1_000059 1/12982 1/8576 0/4406 - - - - - - -
?/? c.1128-36T>G r.(=) p.(=) g.48947505T>G Copied from the Exome Variant Server RB1_000061 1/12984 1/8578 0/4406 - - - - - - -
?/? c.1129A>T r.(?) p.(Thr377Ser) g.48947542A>T Copied from the Exome Variant Server RB1_000062 11/12992 0/8586 11/4406 - - - - - - -
?/? c.1140C>T r.(=) p.(=) g.48947553C>T Copied from the Exome Variant Server RB1_000064 3/12986 3/8580 0/4406 - - - - - - -
?/? c.1163T>G r.(?) p.(Ile388Ser) g.48947576T>G Copied from the Exome Variant Server RB1_000066 1/12980 1/8576 0/4404 - - - - - - -
?/? c.1164T>C r.(=) p.(=) g.48947577T>C Copied from the Exome Variant Server RB1_000068 1/12982 0/8578 1/4404 - - - - - - -
?/? c.1215+30T>A r.(=) p.(=) g.48947658T>A Copied from the Exome Variant Server RB1_000070 1/12940 1/8556 0/4384 - - - - - - -
?/? c.1215+38T>C r.(=) p.(=) g.48947666T>C Copied from the Exome Variant Server RB1_000073 1/12926 1/8548 0/4378 - - - - - - -
?/? c.1216-42C>T r.(=) p.(=) g.48951012C>T Copied from the Exome Variant Server RB1_000075 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1216-40C>T r.(=) p.(=) g.48951014C>T Copied from the Exome Variant Server RB1_000077 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1216-29A>G r.(=) p.(=) g.48951025A>G Copied from the Exome Variant Server RB1_000078 368/13006 3/8600 365/4406 - - - - - - -
?/? c.1224A>G r.(=) p.(=) g.48951062A>G Copied from the Exome Variant Server RB1_000081 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1332+23C>T r.(=) p.(=) g.48951193C>T Copied from the Exome Variant Server RB1_000058 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1333-29C>T r.(=) p.(=) g.48953701C>T Copied from the Exome Variant Server RB1_000060 5/12954 5/8584 0/4370 - - - - - - -
?/? c.1333-12_1333-11insT r.(=) p.(=) g.48953718_48953719insT Copied from the Exome Variant Server RB1_000063 1/12486 1/8244 0/4242 - - - - - - -
?/? c.1389+37C>T r.(=) p.(=) g.48953823C>T Copied from the Exome Variant Server RB1_000065 1/12932 0/8558 1/4374 - - - - - - -
?/? c.1389+40G>A r.(=) p.(=) g.48953826G>A Copied from the Exome Variant Server RB1_000067 24/12912 0/8550 24/4362 - - - - - - -
?/? c.1389+44G>A r.(=) p.(=) g.48953830G>A Copied from the Exome Variant Server RB1_000069 1/12882 1/8530 0/4352 - - - - - - -
?/? c.1390-29del r.(=) p.(=) g.48954160del Copied from the Exome Variant Server RB1_000072 532/8674 383/5962 149/2712 - - - - - - -
?/? c.1390-29dup r.(=) p.(=) g.48954160dup Copied from the Exome Variant Server RB1_000071 593/8674 314/5962 279/2712 - - - - - - -
?/? c.1390-16del r.(=) p.(=) g.48954173del Copied from the Exome Variant Server RB1_000074 155/9226 121/6376 34/2850 - - - - - - -
?/? c.1390-14A>T r.(=) p.(=) g.48954175A>T Copied from the Exome Variant Server RB1_000076 355/10284 329/7110 26/3174 - - - - - - -
?/? c.1421+9T>C r.(=) p.(=) g.48954229T>C Copied from the Exome Variant Server RB1_000080 6/10978 0/7566 6/3412 - - - - - - -
?/? c.1422-18_1422-17del r.(=) p.(=) g.48954283_48954284del Copied from the Exome Variant Server RB1_000083 403/12204 269/8180 134/4024 - - - - - - -
?/? c.1422-17del r.(=) p.(=) g.48954284del Copied from the Exome Variant Server RB1_000086 1954/12204 1331/8180 623/4024 - - - - - - -
?/? c.1422-17dup r.(=) p.(=) g.48954284dup Copied from the Exome Variant Server RB1_000085 322/12204 197/8180 125/4024 - - - - - - -
?/? c.1449T>C r.(=) p.(=) g.48954328T>C Copied from the Exome Variant Server RB1_000088 2/12996 2/8596 0/4400 - - - - - - -
?/? c.1467C>T r.(=) p.(=) g.48954346C>T Copied from the Exome Variant Server RB1_000090 3/12998 0/8596 3/4402 - - - - - - -
?/? c.1491A>T r.(=) p.(=) g.48954370A>T Copied from the Exome Variant Server RB1_000092 4/13000 1/8598 3/4402 - - - - - - -
?/? c.1498+30T>A r.(=) p.(=) g.48954407T>A Copied from the Exome Variant Server RB1_000093 1/12988 1/8586 0/4402 - - - - - - -
?/? c.1499-19del r.(=) p.(=) g.48955364del Copied from the Exome Variant Server RB1_000097 880/12438 600/8214 280/4224 - - - - - - -
?/? c.1499-19dup r.(=) p.(=) g.48955364dup Copied from the Exome Variant Server RB1_000095 173/12438 111/8214 62/4224 - - - - - - -
?/? c.1574C>G r.(?) p.(Ala525Gly) g.48955458C>G Copied from the Exome Variant Server RB1_000098 84/13006 4/8600 80/4406 - - - - - - -
?/? c.1617A>C r.(?) p.(Glu539Asp) g.48955501A>C Copied from the Exome Variant Server RB1_000100 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1632A>G r.(=) p.(=) g.48955516A>G Copied from the Exome Variant Server RB1_000102 34/13006 1/8600 33/4406 - - - - - - -
?/? c.1655G>A r.(?) p.(Arg552Gln) g.48955539G>A Copied from the Exome Variant Server RB1_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1695+29895C>A r.(=) p.(=) g.48985474C>A Copied from the Exome Variant Server RB1_000079 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1695+29942T>C r.(=) p.(=) g.48985521T>C Copied from the Exome Variant Server RB1_000082 71/13006 2/8600 69/4406 - - - - - - -
?/? c.1695+29973C>T r.(=) p.(=) g.48985552C>T Copied from the Exome Variant Server RB1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1695+30046C>G r.(?) p.(Ser312Thr) g.48985625C>G Copied from the Exome Variant Server RB1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1695+30060C>A r.(?) p.(Trp307Cys) g.48985639C>A Copied from the Exome Variant Server RB1_000089 132/13006 119/8600 13/4406 - - - - - - -
?/? c.1695+30096C>A r.(=) p.(=) g.48985675C>A Copied from the Exome Variant Server RB1_000091 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1695+30097G>C r.(?) p.(Ser295Trp) g.48985676G>C Copied from the Exome Variant Server RB1_000094 1/13006 0/8600 1/4406 - - - - - - -
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