Full data view for gene RBM10

Information The variants shown are described using the NM_005676.4 transcript reference sequence.

123 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.-28C>T r.(=) p.(=) g.47006853C>T Copied from the Exome Variant Server RBM10_000001 1/10562 0/6728 1/3834 - - - - - - -
?/? c.17+9T>C r.(=) p.(=) g.47006906T>C Copied from the Exome Variant Server RBM10_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.17+15C>T r.(=) p.(=) g.47006912C>T Copied from the Exome Variant Server RBM10_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.17+27G>C r.(=) p.(=) g.47006924G>C Copied from the Exome Variant Server RBM10_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.17+31G>A r.(=) p.(=) g.47006928G>A Copied from the Exome Variant Server RBM10_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.17+42C>T r.(=) p.(=) g.47006939C>T Copied from the Exome Variant Server RBM10_000006 6/10563 2/6728 4/3835 - - - - - - -
?/? c.17+43G>A r.(=) p.(=) g.47006940G>A Copied from the Exome Variant Server RBM10_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.17+47A>G r.(=) p.(=) g.47006944A>G Copied from the Exome Variant Server RBM10_000008 1/10563 0/6728 1/3835 - - - - - - -
?/? c.18-20C>G r.(=) p.(=) g.47028694C>G Copied from the Exome Variant Server RBM10_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.99C>T r.(=) p.(=) g.47028795C>T Copied from the Exome Variant Server RBM10_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.124C>T r.(?) p.(Arg42Cys) g.47028820C>T Copied from the Exome Variant Server RBM10_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.174C>T r.(=) p.(=) g.47028870C>T Copied from the Exome Variant Server RBM10_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.201+12G>A r.(=) p.(=) g.47028909G>A Copied from the Exome Variant Server RBM10_000013 4/10550 3/6719 1/3831 - - - - - - -
?/? c.201+20C>T r.(=) p.(=) g.47028917C>T Copied from the Exome Variant Server RBM10_000014 1/10547 0/6716 1/3831 - - - - - - -
?/? c.201+21G>T r.(=) p.(=) g.47028918G>T Copied from the Exome Variant Server RBM10_000015 1/10543 1/6714 0/3829 - - - - - - -
?/? c.228C>G r.(=) p.(=) g.47030453C>G Copied from the Exome Variant Server RBM10_000016 3/10501 3/6690 0/3811 - - - - - - -
?/? c.242_244del r.(?) p.(Arg85del) g.47030467_47030469del Copied from the Exome Variant Server RBM10_000017 120/9856 76/6266 44/3590 - - - - - - -
?/? c.254G>A r.(?) p.(Arg85Gln) g.47030479G>A Copied from the Exome Variant Server RBM10_000018 1/10437 1/6653 0/3784 - - - - - - -
?/? c.274G>A r.(?) p.(Gly92Ser) g.47030499G>A Copied from the Exome Variant Server RBM10_000019 1/10495 1/6687 0/3808 - - - - - - -
?/? c.336_338del r.(?) p.(Glu119del) g.47030561_47030563del Copied from the Exome Variant Server RBM10_000021 1901/10124 1271/6426 630/3698 - - - - - - -
?/? c.432+21C>T r.(=) p.(=) g.47030678C>T Copied from the Exome Variant Server RBM10_000023 10/10484 0/6678 10/3806 - - - - - - -
?/? c.432+41G>A r.(=) p.(=) g.47030698G>A Copied from the Exome Variant Server RBM10_000025 1/10477 1/6678 0/3799 - - - - - - -
?/? c.432+49C>G r.(=) p.(=) g.47030706C>G Copied from the Exome Variant Server RBM10_000028 1/10459 0/6664 1/3795 - - - - - - -
?/? c.433-46G>A r.(=) p.(=) g.47032481G>A Copied from the Exome Variant Server RBM10_000020 2/10563 0/6728 2/3835 - - - - - - -
?/? c.460G>A r.(?) p.(Val154Met) g.47032554G>A Copied from the Exome Variant Server RBM10_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.502+17G>T r.(=) p.(=) g.47032613G>T Copied from the Exome Variant Server RBM10_000024 3/10562 0/6727 3/3835 - - - - - - -
?/? c.576+21del r.(=) p.(=) g.47034512del Copied from the Exome Variant Server RBM10_000027 17/10205 15/6484 2/3721 - - - - - - -
?/? c.576+21dup r.(=) p.(=) g.47034512dup Copied from the Exome Variant Server RBM10_000026 47/10205 25/6484 22/3721 - - - - - - -
?/? c.576+25C>T r.(=) p.(=) g.47034516C>T Copied from the Exome Variant Server RBM10_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.577-54C>T r.(=) p.(=) g.47035845C>T Copied from the Exome Variant Server RBM10_000030 7/3600 6/2391 1/1209 - - - - - - -
?/? c.577-52G>T r.(=) p.(=) g.47035847G>T Copied from the Exome Variant Server RBM10_000031 1/8123 1/5497 0/2626 - - - - - - -
?/? c.663+32A>G r.(=) p.(=) g.47036017A>G Copied from the Exome Variant Server RBM10_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.664-51G>T r.(=) p.(=) g.47038451G>T Copied from the Exome Variant Server RBM10_000033 1/10546 1/6716 0/3830 - - - - - - -
?/? c.724+40G>A r.(=) p.(=) g.47038602G>A Copied from the Exome Variant Server RBM10_000034 56/10560 50/6726 6/3834 - - - - - - -
?/? c.724+70G>T r.(=) p.(=) g.47038632G>T Copied from the Exome Variant Server RBM10_000035 2/3600 2/2391 0/1209 - - - - - - -
?/? c.725-49C>T r.(=) p.(=) g.47038669C>T Copied from the Exome Variant Server RBM10_000036 1/10541 1/6718 0/3823 - - - - - - -
?/? c.747C>T r.(=) p.(=) g.47038740C>T Copied from the Exome Variant Server RBM10_000037 1/10528 1/6710 0/3818 - - - - - - -
?/? c.773T>C r.(?) p.(Leu258Pro) g.47038766T>C Copied from the Exome Variant Server RBM10_000038 1/10532 1/6711 0/3821 - - - - - - -
?/? c.901+28T>A r.(=) p.(=) g.47038922T>A Copied from the Exome Variant Server RBM10_000039 1/10545 0/6721 1/3824 - - - - - - -
?/? c.902-37C>T r.(=) p.(=) g.47039242C>T Copied from the Exome Variant Server RBM10_000040 59/10530 0/6707 59/3823 - - - - - - -
?/? c.969C>T r.(=) p.(=) g.47039346C>T Copied from the Exome Variant Server RBM10_000041 1/10563 0/6728 1/3835 - - - - - - -
?/? c.993G>C r.(=) p.(=) g.47039370G>C Copied from the Exome Variant Server RBM10_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1062+28C>A r.(=) p.(=) g.47039467C>A Copied from the Exome Variant Server RBM10_000043 1/10536 0/6707 1/3829 - - - - - - -
?/? c.1075C>T r.(=) p.(=) g.47039623C>T Copied from the Exome Variant Server RBM10_000044 1/10551 0/6722 1/3829 - - - - - - -
?/? c.1104A>G r.(=) p.(=) g.47039652A>G Copied from the Exome Variant Server RBM10_000045 9/10557 0/6722 9/3835 - - - - - - -
?/? c.1160+40C>A r.(=) p.(=) g.47039748C>A Copied from the Exome Variant Server RBM10_000046 5/10458 0/6660 5/3798 - - - - - - -
?/? c.1161-21A>G r.(=) p.(=) g.47039797A>G Copied from the Exome Variant Server RBM10_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1175A>G r.(?) p.(Asn392Ser) g.47039832A>G Copied from the Exome Variant Server RBM10_000048 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1248+6C>T r.(=) p.(=) g.47039911C>T Copied from the Exome Variant Server RBM10_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1248+13C>T r.(=) p.(=) g.47039918C>T Copied from the Exome Variant Server RBM10_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1269T>C r.(=) p.(=) g.47040634T>C Copied from the Exome Variant Server RBM10_000051 135/10375 123/6610 12/3765 - - - - - - -
?/? c.1293G>A r.(=) p.(=) g.47040658G>A Copied from the Exome Variant Server RBM10_000052 2/10454 0/6667 2/3787 - - - - - - -
?/? c.1347C>T r.(=) p.(=) g.47040712C>T Copied from the Exome Variant Server RBM10_000053 1/10544 1/6721 0/3823 - - - - - - -
?/? c.1435+12C>A r.(=) p.(=) g.47040812C>A Copied from the Exome Variant Server RBM10_000054 1/10558 1/6727 0/3831 - - - - - - -
?/? c.1435+37G>A r.(=) p.(=) g.47040837G>A Copied from the Exome Variant Server RBM10_000055 1/10557 0/6725 1/3832 - - - - - - -
?/? c.1435+43C>T r.(=) p.(=) g.47040843C>T Copied from the Exome Variant Server RBM10_000056 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1436-11C>T r.(=) p.(=) g.47040895C>T Copied from the Exome Variant Server RBM10_000057 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1445C>G r.(?) p.(Ala482Gly) g.47040915C>G Copied from the Exome Variant Server RBM10_000058 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1464C>T r.(=) p.(=) g.47040934C>T Copied from the Exome Variant Server RBM10_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1476G>A r.(=) p.(=) g.47040946G>A Copied from the Exome Variant Server RBM10_000060 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1511C>T r.(?) p.(Ala504Val) g.47040981C>T Copied from the Exome Variant Server RBM10_000061 1/10561 0/6726 1/3835 - - - - - - -
?/? c.1536C>T r.(=) p.(=) g.47041006C>T Copied from the Exome Variant Server RBM10_000062 38/10560 34/6727 4/3833 - - - - - - -
?/? c.1542G>A r.(=) p.(=) g.47041012G>A Copied from the Exome Variant Server RBM10_000063 1/10559 1/6726 0/3833 - - - - - - -
?/? c.1575+14G>A r.(=) p.(=) g.47041059G>A Copied from the Exome Variant Server RBM10_000064 1/10560 1/6726 0/3834 - - - - - - -
?/? c.1575+44C>T r.(=) p.(=) g.47041089C>T Copied from the Exome Variant Server RBM10_000065 1/10562 0/6727 1/3835 - - - - - - -
?/? c.1576-28C>G r.(=) p.(=) g.47041120C>G Copied from the Exome Variant Server RBM10_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1576-20C>T r.(=) p.(=) g.47041128C>T Copied from the Exome Variant Server RBM10_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1576-18G>T r.(=) p.(=) g.47041130G>T Copied from the Exome Variant Server RBM10_000071 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1576-13_1576-12insC r.(=) p.(=) g.47041135_47041136insC Copied from the Exome Variant Server RBM10_000073 1/10205 0/6484 1/3721 - - - - - - -
?/? c.1602G>A r.(=) p.(=) g.47041174G>A Copied from the Exome Variant Server RBM10_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1669G>A r.(?) p.(Ala557Thr) g.47041241G>A Copied from the Exome Variant Server RBM10_000077 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1693+27G>A r.(=) p.(=) g.47041292G>A Copied from the Exome Variant Server RBM10_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1693+28G>A r.(=) p.(=) g.47041293G>A Copied from the Exome Variant Server RBM10_000081 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1694-19C>T r.(=) p.(=) g.47041331C>T Copied from the Exome Variant Server RBM10_000067 17/10563 1/6728 16/3835 - - - - - - -
?/? c.1696G>A r.(?) p.(Val566Ile) g.47041352G>A Copied from the Exome Variant Server RBM10_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1722C>T r.(=) p.(=) g.47041378C>T Copied from the Exome Variant Server RBM10_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1734C>A r.(=) p.(=) g.47041390C>A Copied from the Exome Variant Server RBM10_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1758C>T r.(=) p.(=) g.47041414C>T Copied from the Exome Variant Server RBM10_000074 151/10563 2/6728 149/3835 - - - - - - -
?/? c.1785+42G>A r.(=) p.(=) g.47041483G>A Copied from the Exome Variant Server RBM10_000076 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1785+43C>A r.(=) p.(=) g.47041484C>A Copied from the Exome Variant Server RBM10_000078 5/10562 3/6727 2/3835 - - - - - - -
?/? c.1786-51T>A r.(=) p.(=) g.47041510T>A Copied from the Exome Variant Server RBM10_000080 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1841C>T r.(?) p.(Thr614Ile) g.47041616C>T Copied from the Exome Variant Server RBM10_000082 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1851C>T r.(=) p.(=) g.47041626C>T Copied from the Exome Variant Server RBM10_000083 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1872C>T r.(=) p.(=) g.47041647C>T Copied from the Exome Variant Server RBM10_000084 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1891G>C r.(?) p.(Ala631Pro) g.47041666G>C Copied from the Exome Variant Server RBM10_000085 146/10563 137/6728 9/3835 - - - - - - -
?/? c.1951-48C>G r.(=) p.(=) g.47044406C>G Copied from the Exome Variant Server RBM10_000086 1/10537 0/6714 1/3823 - - - - - - -
?/? c.1951-7C>T r.(=) p.(=) g.47044447C>T Copied from the Exome Variant Server RBM10_000087 2/10561 0/6728 2/3833 - - - - - - -
?/? c.2046C>T r.(=) p.(=) g.47044549C>T Copied from the Exome Variant Server RBM10_000089 1/10560 0/6725 1/3835 - - - - - - -
?/? c.2100+15C>T r.(=) p.(=) g.47044618C>T Copied from the Exome Variant Server RBM10_000091 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2106A>G r.(=) p.(=) g.47044706A>G Copied from the Exome Variant Server RBM10_000093 16/10563 0/6728 16/3835 - - - - - - -
?/? c.2141C>A r.(?) p.(Pro714Gln) g.47044741C>A Copied from the Exome Variant Server RBM10_000095 1/10562 1/6728 0/3834 - - - - - - -
?/? c.2166+28G>T r.(=) p.(=) g.47044794G>T Copied from the Exome Variant Server RBM10_000097 1/10484 0/6681 1/3803 - - - - - - -
?/? c.2166+34T>C r.(=) p.(=) g.47044800T>C Copied from the Exome Variant Server RBM10_000099 1/10466 1/6674 0/3792 - - - - - - -
?/? c.2167-28C>T r.(=) p.(=) g.47044813C>T Copied from the Exome Variant Server RBM10_000101 1/10414 1/6649 0/3765 - - - - - - -
?/? c.2167-21G>A r.(=) p.(=) g.47044820G>A Copied from the Exome Variant Server RBM10_000103 1/10373 0/6611 1/3762 - - - - - - -
?/? c.2167-12C>T r.(=) p.(=) g.47044829C>T Copied from the Exome Variant Server RBM10_000105 1/10363 1/6602 0/3761 - - - - - - -
?/? c.2174C>T r.(?) p.(Pro725Leu) g.47044848C>T Copied from the Exome Variant Server RBM10_000107 1/10332 1/6581 0/3751 - - - - - - -
?/? c.2175G>T r.(=) p.(=) g.47044849G>T Copied from the Exome Variant Server RBM10_000109 3/10333 1/6585 2/3748 - - - - - - -
?/? c.2199C>T r.(=) p.(=) g.47044873C>T Copied from the Exome Variant Server RBM10_000088 1/10342 0/6590 1/3752 - - - - - - -
?/? c.2355+8C>T r.(=) p.(=) g.47045037C>T Copied from the Exome Variant Server RBM10_000090 1/10560 1/6726 0/3834 - - - - - - -
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