Full data view for gene ABCB7

Information The variants shown are described using the NM_004299.3 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
Legend  

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.41C>G r.(?) p.(Ala14Gly) g.74376067G>C Copied from the Exome Variant Server ABCB7_000074 1/10470 0/6656 1/3814 - - - - - - -
?/? c.63C>T r.(=) p.(=) g.74376045G>A Copied from the Exome Variant Server ABCB7_000076 1/10547 0/6718 1/3829 - - - - - - -
?/? c.72C>G r.(=) p.(=) g.74376036G>C Copied from the Exome Variant Server ABCB7_000075 1/10553 1/6722 0/3831 - - - - - - -
?/? c.94G>T r.(?) p.(Val32Phe) g.74376014C>A Copied from the Exome Variant Server ABCB7_000073 1/10561 0/6726 1/3835 - - - - - - -
?/? c.102T>C r.(=) p.(=) g.74376006A>G Copied from the Exome Variant Server ABCB7_000072 6/10563 0/6728 6/3835 - - - - - - -
?/? c.121T>C r.(?) p.(Trp41Arg) g.74375987A>G Copied from the Exome Variant Server ABCB7_000071 1/10563 1/6728 0/3835 - - - - - - -
?/? c.157C>A r.(=) p.(=) g.74375951G>T Copied from the Exome Variant Server ABCB7_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.168+29G>A r.(=) p.(=) g.74375911C>T Copied from the Exome Variant Server ABCB7_000069 3/10562 0/6727 3/3835 - - - - - - -
?/? c.169-33C>T r.(=) p.(=) g.74334702G>A Copied from the Exome Variant Server ABCB7_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.169-18A>G r.(=) p.(=) g.74334687T>C Copied from the Exome Variant Server ABCB7_000067 1171/10563 466/6728 705/3835 - - - - - - -
?/? c.204G>C r.(?) p.(Gln68His) g.74334634C>G Copied from the Exome Variant Server ABCB7_000066 42/10563 0/6728 42/3835 - - - - - - -
?/? c.244G>A r.(?) p.(Ala82Thr) g.74334594C>T Copied from the Exome Variant Server ABCB7_000065 1/10563 1/6728 0/3835 - - - - - - -
?/? c.249+1G>A r.spl? p.? g.74334588C>T Copied from the Exome Variant Server ABCB7_000064 111/10563 98/6728 13/3835 - - - - - - -
?/? c.249+16C>T r.(=) p.(=) g.74334573G>A Copied from the Exome Variant Server ABCB7_000063 2/10563 0/6728 2/3835 - - - - - - -
?/? c.249+28T>G r.(=) p.(=) g.74334561A>C Copied from the Exome Variant Server ABCB7_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.250-28C>T r.(=) p.(=) g.74332835G>A Copied from the Exome Variant Server ABCB7_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.250-27G>A r.(=) p.(=) g.74332834C>T Copied from the Exome Variant Server ABCB7_000060 74/10563 69/6728 5/3835 - - - - - - -
?/? c.310G>C r.(?) p.(Gly104Arg) g.74332747C>G Copied from the Exome Variant Server ABCB7_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.315C>T r.(=) p.(=) g.74332742G>A Copied from the Exome Variant Server ABCB7_000058 68/10563 61/6728 7/3835 - - - - - - -
?/? c.336+9C>G r.(=) p.(=) g.74332712G>C Copied from the Exome Variant Server ABCB7_000057 3/10563 0/6728 3/3835 - - - - - - -
?/? c.337-48G>A r.(=) p.(=) g.74318944C>T Copied from the Exome Variant Server ABCB7_000056 345/10561 0/6726 345/3835 - - - - - - -
?/? c.337-41_337-40insA r.(=) p.(=) g.74318936_74318937insT Copied from the Exome Variant Server ABCB7_000055 1/10205 0/6484 1/3721 - - - - - - -
?/? c.337-7del r.(=) p.(=) g.74318903del Copied from the Exome Variant Server ABCB7_000053 1/10205 1/6484 0/3721 - - - - - - -
?/? c.364A>G r.(?) p.(Ile122Val) g.74318869T>C Copied from the Exome Variant Server ABCB7_000051 14/10563 0/6728 14/3835 - - - - - - -
?/? c.413G>A r.(?) p.(Arg138Gln) g.74318820C>T Copied from the Exome Variant Server ABCB7_000049 2/10563 2/6728 0/3835 - - - - - - -
?/? c.451G>A r.(?) p.(Ala151Thr) g.74318782C>T Copied from the Exome Variant Server ABCB7_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.456+5G>C r.spl? p.? g.74318772C>G Copied from the Exome Variant Server ABCB7_000054 1/10563 0/6728 1/3835 - - - - - - -
?/? c.456+41T>C r.(=) p.(=) g.74318736A>G Copied from the Exome Variant Server ABCB7_000052 3/10563 0/6728 3/3835 - - - - - - -
?/? c.457-39T>A r.(=) p.(=) g.74296528A>T Copied from the Exome Variant Server ABCB7_000050 4/10560 0/6727 4/3833 - - - - - - -
?/? c.457-18A>T r.(=) p.(=) g.74296507T>A Copied from the Exome Variant Server ABCB7_000048 5/10563 0/6728 5/3835 - - - - - - -
?/? c.560C>A r.(?) p.(Ala187Glu) g.74296386G>T Copied from the Exome Variant Server ABCB7_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.726C>T r.(=) p.(=) g.74295329G>A Copied from the Exome Variant Server ABCB7_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.741G>A r.(=) p.(=) g.74295314C>T Copied from the Exome Variant Server ABCB7_000044 1/10563 1/6728 0/3835 - - - - - - -
?/? c.812A>G r.(?) p.(Asn271Ser) g.74295243T>C Copied from the Exome Variant Server ABCB7_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.853G>A r.(?) p.(Val285Ile) g.74295202C>T Copied from the Exome Variant Server ABCB7_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.858+32A>G r.(=) p.(=) g.74295165T>C Copied from the Exome Variant Server ABCB7_000041 1/10553 0/6720 1/3833 - - - - - - -
?/? c.858+35T>G r.(=) p.(=) g.74295162A>C Copied from the Exome Variant Server ABCB7_000040 2/10552 0/6719 2/3833 - - - - - - -
?/? c.859-37A>G r.(=) p.(=) g.74293828T>C Copied from the Exome Variant Server ABCB7_000039 38/10562 37/6727 1/3835 - - - - - - -
?/? c.941G>A r.(?) p.(Arg314Gln) g.74293709C>T Copied from the Exome Variant Server ABCB7_000038 29/10563 25/6728 4/3835 - - - - - - -
?/? c.948-7C>T r.(=) p.(=) g.74293618G>A Copied from the Exome Variant Server ABCB7_000037 105/10563 95/6728 10/3835 - - - - - - -
?/? c.961A>G r.(?) p.(Ile321Val) g.74293598T>C Copied from the Exome Variant Server ABCB7_000036 4/10562 0/6728 4/3834 - - - - - - -
?/? c.1035+12A>G r.(=) p.(=) g.74293512T>C Copied from the Exome Variant Server ABCB7_000035 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1177A>G r.(?) p.(Ile393Val) g.74291377T>C Copied from the Exome Variant Server ABCB7_000033 7/10563 7/6728 0/3835 - - - - - - -
?/? c.1203T>A r.(=) p.(=) g.74291351A>T Copied from the Exome Variant Server ABCB7_000031 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1211-4T>C r.spl? p.? g.74290361A>G Copied from the Exome Variant Server ABCB7_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1323T>C r.(=) p.(=) g.74290245A>G Copied from the Exome Variant Server ABCB7_000027 113/10563 100/6728 13/3835 - - - - - - -
?/? c.1368+34T>C r.(=) p.(=) g.74290166A>G Copied from the Exome Variant Server ABCB7_000025 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1368+49A>G r.(=) p.(=) g.74290151T>C Copied from the Exome Variant Server ABCB7_000023 1/10559 1/6724 0/3835 - - - - - - -
?/? c.1368+52A>G r.(=) p.(=) g.74290148T>C Copied from the Exome Variant Server ABCB7_000021 4/4525 0/3107 4/1418 - - - - - - -
?/? c.1369-41G>A r.(=) p.(=) g.74289330C>T Copied from the Exome Variant Server ABCB7_000019 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1369-37G>A r.(=) p.(=) g.74289326C>T Copied from the Exome Variant Server ABCB7_000017 31/10562 0/6727 31/3835 - - - - - - -
?/? c.1369-33G>A r.(=) p.(=) g.74289322C>T Copied from the Exome Variant Server ABCB7_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1369-15_1369-14insT r.(=) p.(=) g.74289303_74289304insA Copied from the Exome Variant Server ABCB7_000032 36/10205 21/6484 15/3721 - - - - - - -
?/? c.1495G>A r.(?) p.(Gly499Arg) g.74289163C>T Copied from the Exome Variant Server ABCB7_000030 30/10563 0/6728 30/3835 - - - - - - -
?/? c.1640G>A r.(?) p.(Arg547Lys) g.74288864C>T Copied from the Exome Variant Server ABCB7_000028 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1663-47_1663-44del r.(=) p.(=) g.74285120_74285123del Copied from the Exome Variant Server ABCB7_000026 784/10049 12/6413 772/3636 - - - - - - -
?/? c.1734A>G r.(=) p.(=) g.74285005T>C Copied from the Exome Variant Server ABCB7_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1742C>T r.(?) p.(Ala581Val) g.74284997G>A Copied from the Exome Variant Server ABCB7_000022 1087/10563 8/6728 1079/3835 - - - - - - -
?/? c.1743A>G r.(=) p.(=) g.74284996T>C Copied from the Exome Variant Server ABCB7_000020 1430/10563 8/6728 1422/3835 - - - - - - -
?/? c.1767T>C r.(=) p.(=) g.74284972A>G Copied from the Exome Variant Server ABCB7_000018 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1805A>G r.(?) p.(Gln602Arg) g.74284934T>C Copied from the Exome Variant Server ABCB7_000016 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1834+24C>T r.(=) p.(=) g.74284881G>A Copied from the Exome Variant Server ABCB7_000015 344/10563 1/6728 343/3835 - - - - - - -
?/? c.1835-46A>C r.(=) p.(=) g.74282312T>G Copied from the Exome Variant Server ABCB7_000014 10/10560 10/6725 0/3835 - - - - - - -
?/? c.1917G>A r.(=) p.(=) g.74282184C>T Copied from the Exome Variant Server ABCB7_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1938+48C>G r.(=) p.(=) g.74282115G>C Copied from the Exome Variant Server ABCB7_000012 1/10542 1/6711 0/3831 - - - - - - -
?/? c.1939-41C>T r.(=) p.(=) g.74280206G>A Copied from the Exome Variant Server ABCB7_000011 22/10562 19/6727 3/3835 - - - - - - -
?/? c.1939-18A>G r.(=) p.(=) g.74280183T>C Copied from the Exome Variant Server ABCB7_000010 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1953C>G r.(=) p.(=) g.74280151G>C Copied from the Exome Variant Server ABCB7_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2046+17T>A r.(=) p.(=) g.74280041A>T Copied from the Exome Variant Server ABCB7_000008 1105/10562 8/6727 1097/3835 - - - - - - -
?/? c.2046+22T>A r.(=) p.(=) g.74280036A>T Copied from the Exome Variant Server ABCB7_000007 1/10562 0/6727 1/3835 - - - - - - -
?/? c.2047-27C>T r.(=) p.(=) g.74273447G>A Copied from the Exome Variant Server ABCB7_000006 1/10375 1/6594 0/3781 - - - - - - -
?/? c.2047-24G>A r.(=) p.(=) g.74273444C>T Copied from the Exome Variant Server ABCB7_000005 164/10417 5/6622 159/3795 - - - - - - -
?/? c.2209C>T r.(=) p.(=) g.74273258G>A Copied from the Exome Variant Server ABCB7_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2228A>G r.(?) p.(Asn743Ser) g.74273239T>C Copied from the Exome Variant Server ABCB7_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2255C>T r.(?) p.(Ser752Leu) g.74273212G>A Copied from the Exome Variant Server ABCB7_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*25_*26insT r.(=) p.(=) g.74273179_74273180insA Copied from the Exome Variant Server ABCB7_000001 1/10203 0/6482 1/3721 - - - - - - -
Legend