All transcript variants in gene FAM47B

Information The variants shown are described using the NM_152631.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-17C>G r.(=) p.(=) g.34960932C>G Copied from the Exome Variant Server FAM47B_000001 1/10520 0/6698 1/3822
?/? c.-8G>C r.(=) p.(=) g.34960941G>C Copied from the Exome Variant Server FAM47B_000002 1/10536 0/6709 1/3827
?/? c.11G>A r.(?) p.(Arg4Gln) g.34960959G>A Copied from the Exome Variant Server FAM47B_000003 5/10555 5/6723 0/3832
?/? c.53A>C r.(?) p.(Lys18Thr) g.34961001A>C Copied from the Exome Variant Server FAM47B_000004 1/10561 1/6728 0/3833
?/? c.54G>A r.(=) p.(=) g.34961002G>A Copied from the Exome Variant Server FAM47B_000005 1/10561 0/6728 1/3833
?/? c.97C>T r.(?) p.(Arg33Cys) g.34961045C>T Copied from the Exome Variant Server FAM47B_000006 1/10555 1/6722 0/3833
?/? c.102G>A r.(=) p.(=) g.34961050G>A Copied from the Exome Variant Server FAM47B_000007 1/10555 1/6722 0/3833
?/? c.156G>A r.(=) p.(=) g.34961104G>A Copied from the Exome Variant Server FAM47B_000008 99/10561 1/6728 98/3833
?/? c.181G>A r.(?) p.(Ala61Thr) g.34961129G>A Copied from the Exome Variant Server FAM47B_000009 1/10561 0/6728 1/3833
?/? c.198A>G r.(=) p.(=) g.34961146A>G Copied from the Exome Variant Server FAM47B_000010 1/10561 0/6728 1/3833
?/? c.263C>T r.(?) p.(Ala88Val) g.34961211C>T Copied from the Exome Variant Server FAM47B_000011 1/10561 0/6728 1/3833
?/? c.289C>T r.(=) p.(=) g.34961237C>T Copied from the Exome Variant Server FAM47B_000012 1/10561 1/6728 0/3833
?/? c.303G>T r.(=) p.(=) g.34961251G>T Copied from the Exome Variant Server FAM47B_000013 4/10561 0/6728 4/3833
?/? c.315C>T r.(=) p.(=) g.34961263C>T Copied from the Exome Variant Server FAM47B_000014 3/10561 3/6728 0/3833
?/? c.341G>A r.(?) p.(Arg114Gln) g.34961289G>A Copied from the Exome Variant Server FAM47B_000015 18/10561 0/6728 18/3833
?/? c.348G>A r.(=) p.(=) g.34961296G>A Copied from the Exome Variant Server FAM47B_000016 26/10561 0/6728 26/3833
?/? c.358G>C r.(?) p.(Glu120Gln) g.34961306G>C Copied from the Exome Variant Server FAM47B_000018 637/10561 571/6728 66/3833
?/? c.416A>C r.(?) p.(Lys139Thr) g.34961364A>C Copied from the Exome Variant Server FAM47B_000020 188/10561 1/6728 187/3833
?/? c.466G>A r.(?) p.(Glu156Lys) g.34961414G>A Copied from the Exome Variant Server FAM47B_000022 1/10561 0/6728 1/3833
?/? c.475C>A r.(?) p.(Leu159Met) g.34961423C>A Copied from the Exome Variant Server FAM47B_000024 1/10561 1/6728 0/3833
?/? c.485C>A r.(?) p.(Ala162Asp) g.34961433C>A Copied from the Exome Variant Server FAM47B_000026 1/10561 1/6728 0/3833
?/? c.520G>C r.(?) p.(Glu174Gln) g.34961468G>C Copied from the Exome Variant Server FAM47B_000028 1/10561 0/6728 1/3833
?/? c.531C>T r.(=) p.(=) g.34961479C>T Copied from the Exome Variant Server FAM47B_000030 1/10561 0/6728 1/3833
?/? c.532G>T r.(?) p.(Glu178*) g.34961480G>T Copied from the Exome Variant Server FAM47B_000032 1/10560 1/6727 0/3833
?/? c.544T>C r.(?) p.(Tyr182His) g.34961492T>C Copied from the Exome Variant Server FAM47B_000034 79/10559 76/6726 3/3833
?/? c.618T>G r.(=) p.(=) g.34961566T>G Copied from the Exome Variant Server FAM47B_000017 25/10556 24/6725 1/3831
?/? c.631C>A r.(?) p.(Arg211Ser) g.34961579C>A Copied from the Exome Variant Server FAM47B_000019 1/10557 0/6724 1/3833
?/? c.647C>G r.(?) p.(Pro216Arg) g.34961595C>G Copied from the Exome Variant Server FAM47B_000021 26/10559 0/6726 26/3833
?/? c.744C>G r.(=) p.(=) g.34961692C>G Copied from the Exome Variant Server FAM47B_000023 1/10561 1/6728 0/3833
?/? c.766G>T r.(?) p.(Val256Leu) g.34961714G>T Copied from the Exome Variant Server FAM47B_000025 100/10561 1/6728 99/3833
?/? c.770C>A r.(?) p.(Ser257Tyr) g.34961718C>A Copied from the Exome Variant Server FAM47B_000027 1/10561 0/6728 1/3833
?/? c.840G>A r.(=) p.(=) g.34961788G>A Copied from the Exome Variant Server FAM47B_000029 4/10561 0/6728 4/3833
?/? c.855G>A r.(=) p.(=) g.34961803G>A Copied from the Exome Variant Server FAM47B_000031 1/10561 1/6728 0/3833
?/? c.864C>G r.(=) p.(=) g.34961812C>G Copied from the Exome Variant Server FAM47B_000033 1/10561 1/6728 0/3833
?/? c.890C>T r.(?) p.(Pro297Leu) g.34961838C>T Copied from the Exome Variant Server FAM47B_000035 1/10561 0/6728 1/3833
?/? c.899C>T r.(?) p.(Pro300Leu) g.34961847C>T Copied from the Exome Variant Server FAM47B_000036 1/10561 1/6728 0/3833
?/? c.915C>G r.(=) p.(=) g.34961863C>G Copied from the Exome Variant Server FAM47B_000037 1/10561 1/6728 0/3833
?/? c.923G>A r.(?) p.(Arg308His) g.34961871G>A Copied from the Exome Variant Server FAM47B_000038 80/10561 1/6728 79/3833
?/? c.954_955del r.(?) p.(Cys320Profs*34) g.34961902_34961903del Copied from the Exome Variant Server FAM47B_000039 5/10205 1/6484 4/3721
?/? c.1003C>G r.(?) p.(Pro335Ala) g.34961951C>G Copied from the Exome Variant Server FAM47B_000040 1/10561 1/6728 0/3833
?/? c.1018C>T r.(?) p.(Arg340Trp) g.34961966C>T Copied from the Exome Variant Server FAM47B_000041 1/10561 0/6728 1/3833
?/? c.1037T>G r.(?) p.(Leu346Arg) g.34961985T>G Copied from the Exome Variant Server FAM47B_000043 1/10561 1/6728 0/3833
?/? c.1088G>T r.(?) p.(Arg363Leu) g.34962036G>T Copied from the Exome Variant Server FAM47B_000045 24/10561 0/6728 24/3833
?/? c.1114G>A r.(?) p.(Glu372Lys) g.34962062G>A Copied from the Exome Variant Server FAM47B_000047 26/10561 0/6728 26/3833
?/? c.1129C>A r.(?) p.(Pro377Thr) g.34962077C>A Copied from the Exome Variant Server FAM47B_000049 1/10561 0/6728 1/3833
?/? c.1162C>T r.(?) p.(Arg388Trp) g.34962110C>T Copied from the Exome Variant Server FAM47B_000051 1/10561 0/6728 1/3833
?/? c.1238A>G r.(?) p.(Lys413Arg) g.34962186A>G Copied from the Exome Variant Server FAM47B_000053 22/10561 0/6728 22/3833
?/? c.1252C>G r.(?) p.(Arg418Gly) g.34962200C>G Copied from the Exome Variant Server FAM47B_000056 1/10561 1/6728 0/3833
?/? c.1256G>C r.(?) p.(Arg419Pro) g.34962204G>C Copied from the Exome Variant Server FAM47B_000057 56/10561 50/6728 6/3833
?/? c.1334G>A r.(?) p.(Ser445Asn) g.34962282G>A Copied from the Exome Variant Server FAM47B_000059 4/10561 4/6728 0/3833
?/? c.1341G>A r.(?) p.(Met447Ile) g.34962289G>A Copied from the Exome Variant Server FAM47B_000042 16/10561 0/6728 16/3833
?/? c.1369A>G r.(?) p.(Arg457Gly) g.34962317A>G Copied from the Exome Variant Server FAM47B_000044 1/10561 0/6728 1/3833
?/? c.1391G>A r.(?) p.(Arg464His) g.34962339G>A Copied from the Exome Variant Server FAM47B_000046 1/10556 0/6723 1/3833
?/? c.1404G>T r.(?) p.(Trp468Cys) g.34962352G>T Copied from the Exome Variant Server FAM47B_000048 1/10556 1/6723 0/3833
?/? c.1414C>G r.(?) p.(Leu472Val) g.34962362C>G Copied from the Exome Variant Server FAM47B_000050 1/10556 0/6723 1/3833
?/? c.1479T>C r.(=) p.(=) g.34962427T>C Copied from the Exome Variant Server FAM47B_000052 1/10561 0/6728 1/3833
?/? c.1487A>C r.(?) p.(Gln496Pro) g.34962435A>C Copied from the Exome Variant Server FAM47B_000054 186/10561 1/6728 185/3833
?/? c.1503A>T r.(=) p.(=) g.34962451A>T Copied from the Exome Variant Server FAM47B_000055 1/10561 1/6728 0/3833
?/? c.1506C>T r.(=) p.(=) g.34962454C>T Copied from the Exome Variant Server FAM47B_000058 19/10561 0/6728 19/3833
?/? c.1522C>T r.(=) p.(=) g.34962470C>T Copied from the Exome Variant Server FAM47B_000060 4/10561 0/6728 4/3833
?/? c.1607C>T r.(?) p.(Pro536Leu) g.34962555C>T Copied from the Exome Variant Server FAM47B_000061 1/10561 1/6728 0/3833
?/? c.1620T>C r.(=) p.(=) g.34962568T>C Copied from the Exome Variant Server FAM47B_000062 1/10561 1/6728 0/3833
?/? c.1635_1636insC r.(?) p.(Ile546Hisfs*11) g.34962583_34962584insC Copied from the Exome Variant Server FAM47B_000063 1/10203 1/6484 0/3719
?/? c.1649C>T r.(?) p.(Pro550Leu) g.34962597C>T Copied from the Exome Variant Server FAM47B_000064 1/10561 1/6728 0/3833
?/? c.1664C>T r.(?) p.(Pro555Leu) g.34962612C>T Copied from the Exome Variant Server FAM47B_000065 1/10561 1/6728 0/3833
?/? c.1666A>C r.(?) p.(Lys556Gln) g.34962614A>C Copied from the Exome Variant Server FAM47B_000066 1/10561 1/6728 0/3833
?/? c.1761T>C r.(=) p.(=) g.34962709T>C Copied from the Exome Variant Server FAM47B_000067 1/10561 0/6728 1/3833
?/? c.1855G>A r.(?) p.(Asp619Asn) g.34962803G>A Copied from the Exome Variant Server FAM47B_000068 1/10561 1/6728 0/3833
?/? c.1863T>A r.(=) p.(=) g.34962811T>A Copied from the Exome Variant Server FAM47B_000069 56/10561 0/6728 56/3833
?/? c.1864A>G r.(?) p.(Lys622Glu) g.34962812A>G Copied from the Exome Variant Server FAM47B_000070 1/10561 0/6728 1/3833
?/? c.1891G>A r.(?) p.(Val631Ile) g.34962839G>A Copied from the Exome Variant Server FAM47B_000071 1/10561 1/6728 0/3833
?/? c.1928A>T r.(?) p.(Lys643Ile) g.34962876A>T Copied from the Exome Variant Server FAM47B_000072 10/10561 10/6728 0/3833
?/? c.*23A>C r.(=) p.(=) g.34962909A>C Copied from the Exome Variant Server FAM47B_000073 3226/10551 1869/6720 1357/3831
?/? c.*46C>G r.(=) p.(=) g.34962932C>G Copied from the Exome Variant Server FAM47B_000074 1/10497 1/6678 0/3819
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