Full data view for gene OPHN1

Information The variants shown are described using the NM_002547.2 transcript reference sequence.

114 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.-4-18C>T r.(=) p.(=) g.67652884G>A Copied from the Exome Variant Server OPHN1_000114 1/10559 1/6724 0/3835 - - - - - - -
?/? c.12C>G r.(=) p.(=) g.67652851G>C Copied from the Exome Variant Server OPHN1_000113 2/10560 0/6725 2/3835 - - - - - - -
?/? c.21G>A r.(=) p.(=) g.67652842C>T Copied from the Exome Variant Server OPHN1_000112 1/10563 1/6728 0/3835 - - - - - - -
?/? c.48C>T r.(=) p.(=) g.67652815G>A Copied from the Exome Variant Server OPHN1_000111 1/10563 1/6728 0/3835 - - - - - - -
?/? c.115G>A r.(?) p.(Val39Ile) g.67652748C>T Copied from the Exome Variant Server OPHN1_000110 582/10563 526/6728 56/3835 - - - - - - -
?/? c.133G>A r.(?) p.(Ala45Thr) g.67652730C>T Copied from the Exome Variant Server OPHN1_000109 12/10563 12/6728 0/3835 - - - - - - -
?/? c.148A>G r.(?) p.(Met50Val) g.67652715T>C Copied from the Exome Variant Server OPHN1_000108 1/10563 1/6728 0/3835 - - - - - - -
?/? c.152G>A r.(?) p.(Arg51Lys) g.67652711C>T Copied from the Exome Variant Server OPHN1_000107 1/10563 0/6728 1/3835 - - - - - - -
?/? c.155-14C>T r.(=) p.(=) g.67518952G>A Copied from the Exome Variant Server OPHN1_000096 1/10563 0/6728 1/3835 - - - - - - -
?/? c.204G>A r.(=) p.(=) g.67518889C>T Copied from the Exome Variant Server OPHN1_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.237T>C r.(=) p.(=) g.67518856A>G Copied from the Exome Variant Server OPHN1_000092 6/10563 0/6728 6/3835 - - - - - - -
?/? c.249C>A r.(=) p.(=) g.67518844G>T Copied from the Exome Variant Server OPHN1_000090 3/10563 0/6728 3/3835 - - - - - - -
?/? c.312+13C>T r.(=) p.(=) g.67502885G>A Copied from the Exome Variant Server OPHN1_000088 4/10563 3/6728 1/3835 - - - - - - -
?/? c.312+50G>A r.(=) p.(=) g.67502848C>T Copied from the Exome Variant Server OPHN1_000086 9/10563 0/6728 9/3835 - - - - - - -
?/? c.316C>T r.(?) p.(His106Tyr) g.67494648G>A Copied from the Exome Variant Server OPHN1_000106 1/10563 1/6728 0/3835 - - - - - - -
?/? c.359G>A r.(?) p.(Arg120Gln) g.67494605C>T Copied from the Exome Variant Server OPHN1_000105 1/10563 1/6728 0/3835 - - - - - - -
?/? c.384+44G>A r.(=) p.(=) g.67494536C>T Copied from the Exome Variant Server OPHN1_000104 1/10560 1/6727 0/3833 - - - - - - -
?/? c.384+64A>C r.(=) p.(=) g.67494516T>G Copied from the Exome Variant Server OPHN1_000103 6/3599 0/2390 6/1209 - - - - - - -
?/? c.385-51_385-48del r.(=) p.(=) g.67454478_67454481del Copied from the Exome Variant Server OPHN1_000102 2/10205 2/6484 0/3721 - - - - - - -
?/? c.385-42A>T r.(=) p.(=) g.67454472T>A Copied from the Exome Variant Server OPHN1_000101 1/10563 1/6728 0/3835 - - - - - - -
?/? c.385-20C>G r.(=) p.(=) g.67454450G>C Copied from the Exome Variant Server OPHN1_000100 2/10563 2/6728 0/3835 - - - - - - -
?/? c.482A>G r.(?) p.(Gln161Arg) g.67454333T>C Copied from the Exome Variant Server OPHN1_000099 1/10563 1/6728 0/3835 - - - - - - -
?/? c.487-28T>C r.(=) p.(=) g.67433842A>G Copied from the Exome Variant Server OPHN1_000098 1/10559 0/6725 1/3834 - - - - - - -
?/? c.562G>A r.(?) p.(Val188Ile) g.67433739C>T Copied from the Exome Variant Server OPHN1_000097 1/10563 1/6728 0/3835 - - - - - - -
?/? c.579G>A r.(=) p.(=) g.67433722C>T Copied from the Exome Variant Server OPHN1_000095 2/10563 2/6728 0/3835 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.67433707C>T Copied from the Exome Variant Server OPHN1_000093 1/10563 1/6728 0/3835 - - - - - - -
?/? c.597+49T>G r.(=) p.(=) g.67433655A>C Copied from the Exome Variant Server OPHN1_000091 1/10491 1/6677 0/3814 - - - - - - -
?/? c.702+8T>C r.(=) p.(=) g.67431942A>G Copied from the Exome Variant Server OPHN1_000089 1/10560 1/6725 0/3835 - - - - - - -
?/? c.702+11A>C r.(=) p.(=) g.67431939T>G Copied from the Exome Variant Server OPHN1_000087 19/10559 14/6724 5/3835 - - - - - - -
?/? c.702+28C>T r.(=) p.(=) g.67431922G>A Copied from the Exome Variant Server OPHN1_000085 3/10557 2/6722 1/3835 - - - - - - -
?/? c.702+29G>A r.(=) p.(=) g.67431921C>T Copied from the Exome Variant Server OPHN1_000084 1207/10553 627/6718 580/3835 - - - - - - -
?/? c.702+42C>T r.(=) p.(=) g.67431908G>A Copied from the Exome Variant Server OPHN1_000083 10/10553 0/6719 10/3834 - - - - - - -
?/? c.702+51T>C r.(=) p.(=) g.67431899A>G Copied from the Exome Variant Server OPHN1_000082 1/10537 0/6704 1/3833 - - - - - - -
?/? c.703-48A>G r.(=) p.(=) g.67430172T>C Copied from the Exome Variant Server OPHN1_000081 1/10563 0/6728 1/3835 - - - - - - -
?/? c.705A>C r.(=) p.(=) g.67430122T>G Copied from the Exome Variant Server OPHN1_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.728G>A r.(?) p.(Arg243Gln) g.67430099C>T Copied from the Exome Variant Server OPHN1_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.791G>A r.(?) p.(Gly264Glu) g.67430036C>T Copied from the Exome Variant Server OPHN1_000078 1/10563 1/6728 0/3835 - - - - - - -
?/? c.832+16G>A r.(=) p.(=) g.67429979C>T Copied from the Exome Variant Server OPHN1_000077 15/10563 15/6728 0/3835 - - - - - - -
?/? c.832+23C>A r.(=) p.(=) g.67429972G>T Copied from the Exome Variant Server OPHN1_000076 2/10563 1/6728 1/3835 - - - - - - -
?/? c.832+40G>A r.(=) p.(=) g.67429955C>T Copied from the Exome Variant Server OPHN1_000075 1/10563 0/6728 1/3835 - - - - - - -
?/? c.832+51C>G r.(=) p.(=) g.67429944G>C Copied from the Exome Variant Server OPHN1_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.902C>T r.(?) p.(Thr301Met) g.67426446G>A Copied from the Exome Variant Server OPHN1_000073 51/10563 8/6728 43/3835 - - - - - - -
?/? c.903G>A r.(=) p.(=) g.67426445C>T Copied from the Exome Variant Server OPHN1_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.933+33T>C r.(=) p.(=) g.67426382A>G Copied from the Exome Variant Server OPHN1_000071 3/10563 0/6728 3/3835 - - - - - - -
?/? c.933+34_933+39del r.(=) p.(=) g.67426376_67426381del Copied from the Exome Variant Server OPHN1_000070 19/10205 16/6484 3/3721 - - - - - - -
?/? c.933+44C>A r.(=) p.(=) g.67426371G>T Copied from the Exome Variant Server OPHN1_000069 3/10563 3/6728 0/3835 - - - - - - -
?/? c.934-26G>A r.(=) p.(=) g.67421578C>T Copied from the Exome Variant Server OPHN1_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.934-24C>T r.(=) p.(=) g.67421576G>A Copied from the Exome Variant Server OPHN1_000067 1/10563 0/6728 1/3835 - - - - - - -
?/? c.996G>A r.(=) p.(=) g.67421490C>T Copied from the Exome Variant Server OPHN1_000066 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1025+12C>T r.(=) p.(=) g.67421449G>A Copied from the Exome Variant Server OPHN1_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1025+13G>A r.(=) p.(=) g.67421448C>T Copied from the Exome Variant Server OPHN1_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1026-53del r.(=) p.(=) g.67417159del Copied from the Exome Variant Server OPHN1_000063 83/10205 2/6484 81/3721 - - - - - - -
?/? c.1026-15T>A r.(=) p.(=) g.67417121A>T Copied from the Exome Variant Server OPHN1_000062 13/10563 0/6728 13/3835 - - - - - - -
?/? c.1104+53G>A r.(=) p.(=) g.67416975C>T Copied from the Exome Variant Server OPHN1_000061 1/3600 1/2391 0/1209 - - - - - - -
?/? c.1105-65T>C r.(=) p.(=) g.67414405A>G Copied from the Exome Variant Server OPHN1_000060 137/3600 0/2391 137/1209 - - - - - - -
?/? c.1105-36A>G r.(=) p.(=) g.67414376T>C Copied from the Exome Variant Server OPHN1_000058 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1138+21G>A r.(=) p.(=) g.67414286C>T Copied from the Exome Variant Server OPHN1_000056 73/10563 0/6728 73/3835 - - - - - - -
?/? c.1138+80T>C r.(=) p.(=) g.67414227A>G Copied from the Exome Variant Server OPHN1_000054 521/3600 3/2391 518/1209 - - - - - - -
?/? c.1139-29A>C r.(=) p.(=) g.67413823T>G Copied from the Exome Variant Server OPHN1_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1184A>G r.(?) p.(Asn395Ser) g.67413749T>C Copied from the Exome Variant Server OPHN1_000050 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1201+39C>T r.(=) p.(=) g.67413693G>A Copied from the Exome Variant Server OPHN1_000048 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1202-34C>G r.(=) p.(=) g.67412869G>C Copied from the Exome Variant Server OPHN1_000046 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1276+38T>G r.(=) p.(=) g.67412723A>C Copied from the Exome Variant Server OPHN1_000044 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1312A>G r.(?) p.(Ser438Gly) g.67339139T>C Copied from the Exome Variant Server OPHN1_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1362-36C>T r.(=) p.(=) g.67333117G>A Copied from the Exome Variant Server OPHN1_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1362-29A>C r.(=) p.(=) g.67333110T>G Copied from the Exome Variant Server OPHN1_000057 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1362-17A>G r.(=) p.(=) g.67333098T>C Copied from the Exome Variant Server OPHN1_000055 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1393C>T r.(?) p.(Leu465Phe) g.67333050G>A Copied from the Exome Variant Server OPHN1_000053 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1443C>T r.(=) p.(=) g.67331779G>A Copied from the Exome Variant Server OPHN1_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1506T>A r.(=) p.(=) g.67331716A>T Copied from the Exome Variant Server OPHN1_000049 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1527-9T>G r.(=) p.(=) g.67316880A>C Copied from the Exome Variant Server OPHN1_000047 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1601G>A r.(?) p.(Arg534Lys) g.67316797C>T Copied from the Exome Variant Server OPHN1_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1613A>G r.(?) p.(Asp538Gly) g.67316785T>C Copied from the Exome Variant Server OPHN1_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1665A>G r.(?) p.(Ile555Met) g.67316733T>C Copied from the Exome Variant Server OPHN1_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1686+38A>G r.(=) p.(=) g.67316674T>C Copied from the Exome Variant Server OPHN1_000040 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1686+38_1686+39del r.(=) p.(=) g.67316673_67316674del Copied from the Exome Variant Server OPHN1_000039 3/10205 1/6484 2/3721 - - - - - - -
?/? c.1686+46C>A r.(=) p.(=) g.67316666G>T Copied from the Exome Variant Server OPHN1_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1687-30T>C r.(=) p.(=) g.67293171A>G Copied from the Exome Variant Server OPHN1_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1780C>T r.(?) p.(Arg594Cys) g.67293048G>A Copied from the Exome Variant Server OPHN1_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1781G>A r.(?) p.(Arg594His) g.67293047C>T Copied from the Exome Variant Server OPHN1_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1800G>T r.(=) p.(=) g.67293028C>A Copied from the Exome Variant Server OPHN1_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1830C>T r.(=) p.(=) g.67292998G>A Copied from the Exome Variant Server OPHN1_000030 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1839A>G r.(=) p.(=) g.67284015T>C Copied from the Exome Variant Server OPHN1_000028 16/10563 0/6728 16/3835 - - - - - - -
?/? c.1871C>G r.(?) p.(Thr624Ser) g.67283983G>C Copied from the Exome Variant Server OPHN1_000026 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1892_1893insA r.(?) p.(Pro632Alafs*16) g.67283961_67283962insT Copied from the Exome Variant Server OPHN1_000024 20/10205 16/6484 4/3721 - - - - - - -
?/? c.2007C>T r.(=) p.(=) g.67283847G>A Copied from the Exome Variant Server OPHN1_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2008G>A r.(?) p.(Val670Met) g.67283846C>T Copied from the Exome Variant Server OPHN1_000020 2/10563 1/6728 1/3835 - - - - - - -
?/? c.2019G>C r.(?) p.(Leu673Phe) g.67283835C>G Copied from the Exome Variant Server OPHN1_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2022G>A r.(=) p.(=) g.67283832C>T Copied from the Exome Variant Server OPHN1_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2029C>A r.(?) p.(Leu677Met) g.67283825G>T Copied from the Exome Variant Server OPHN1_000035 18/10563 18/6728 0/3835 - - - - - - -
?/? c.2056C>T r.(?) p.(Pro686Ser) g.67283798G>A Copied from the Exome Variant Server OPHN1_000033 33/10563 0/6728 33/3835 - - - - - - -
?/? c.2062G>T r.(?) p.(Ala688Ser) g.67283792C>A Copied from the Exome Variant Server OPHN1_000031 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2079G>A r.(?) p.(Met693Ile) g.67283775C>T Copied from the Exome Variant Server OPHN1_000029 50/10563 0/6728 50/3835 - - - - - - -
?/? c.2081C>G r.(?) p.(Pro694Arg) g.67283773G>C Copied from the Exome Variant Server OPHN1_000027 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2114A>G r.(?) p.(His705Arg) g.67283740T>C Copied from the Exome Variant Server OPHN1_000025 1/10556 1/6723 0/3833 - - - - - - -
?/? c.2135G>A r.(?) p.(Arg712Gln) g.67283719C>T Copied from the Exome Variant Server OPHN1_000023 1/10530 1/6705 0/3825 - - - - - - -
?/? c.2144C>T r.(?) p.(Ala715Val) g.67283710G>A Copied from the Exome Variant Server OPHN1_000021 2/10521 2/6697 0/3824 - - - - - - -
?/? c.2159-42T>C r.(=) p.(=) g.67273694A>G Copied from the Exome Variant Server OPHN1_000019 1/10562 0/6728 1/3834 - - - - - - -
?/? c.2159-38C>T r.(=) p.(=) g.67273690G>A Copied from the Exome Variant Server OPHN1_000017 41/10561 36/6727 5/3834 - - - - - - -
?/? c.2168A>G r.(?) p.(Asp723Gly) g.67273643T>C Copied from the Exome Variant Server OPHN1_000015 1/10563 1/6728 0/3835 - - - - - - -
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