All transcript variants in gene ATP11C

Information The variants shown are described using the NM_173694.4 transcript reference sequence.

136 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     
?/? c.-17A>G r.(=) p.(=) g.138914365T>C Copied from the Exome Variant Server ATP11C_000049 1/10563 0/6728 1/3835
?/? c.36+10C>G r.(=) p.(=) g.138914303G>C Copied from the Exome Variant Server ATP11C_000048 1/10563 1/6728 0/3835
?/? c.36+12A>G r.(=) p.(=) g.138914301T>C Copied from the Exome Variant Server ATP11C_000047 1/10563 1/6728 0/3835
?/? c.37-49T>A r.(=) p.(=) g.138909031A>T Copied from the Exome Variant Server ATP11C_000046 1/10562 0/6727 1/3835
?/? c.37-45C>T r.(=) p.(=) g.138909027G>A Copied from the Exome Variant Server ATP11C_000045 1/10562 0/6727 1/3835
?/? c.88C>T r.(?) p.(His30Tyr) g.138908931G>A Copied from the Exome Variant Server ATP11C_000044 1/10563 1/6728 0/3835
?/? c.99G>A r.(=) p.(=) g.138908920C>T Copied from the Exome Variant Server ATP11C_000043 1/10563 1/6728 0/3835
?/? c.156+26A>C r.(=) p.(=) g.138908837T>G Copied from the Exome Variant Server ATP11C_000042 1/10562 1/6727 0/3835
?/? c.246+45G>A r.(=) p.(=) g.138901452C>T Copied from the Exome Variant Server ATP11C_000041 1/10503 1/6689 0/3814
?/? c.247-65_247-51del r.(=) p.(=) g.138899153_138899167del Copied from the Exome Variant Server ATP11C_000040 10/10202 0/6481 10/3721
?/? c.247-3T>A r.spl? p.? g.138899105A>T Copied from the Exome Variant Server ATP11C_000039 1/10563 0/6728 1/3835
?/? c.286C>T r.(?) p.(Leu96Phe) g.138899063G>A Copied from the Exome Variant Server ATP11C_000038 1/10563 1/6728 0/3835
?/? c.327+17C>T r.(=) p.(=) g.138899005G>A Copied from the Exome Variant Server ATP11C_000037 854/10563 785/6728 69/3835
?/? c.327+42G>A r.(=) p.(=) g.138898980C>T Copied from the Exome Variant Server ATP11C_000036 3/10563 0/6728 3/3835
?/? c.327+47T>C r.(=) p.(=) g.138898975A>G Copied from the Exome Variant Server ATP11C_000035 1/10563 1/6728 0/3835
?/? c.342T>G N/A N/A g.138897130A>C Copied from the Exome Variant Server ATP11C_000034 10397/10557 6575/6724 3822/3833
?/? c.379A>G r.(?) p.(Thr127Ala) g.138897093T>C Copied from the Exome Variant Server ATP11C_000033 1/10557 0/6724 1/3833
?/? c.414A>G r.(=) p.(=) g.138897058T>C Copied from the Exome Variant Server ATP11C_000032 20/10558 17/6725 3/3833
?/? c.435+40T>C r.(=) p.(=) g.138896997A>G Copied from the Exome Variant Server ATP11C_000031 1/10520 1/6702 0/3818
?/? c.504C>T r.(=) p.(=) g.138886690G>A Copied from the Exome Variant Server ATP11C_000030 3/10563 0/6728 3/3835
?/? c.525T>C r.(=) p.(=) g.138886669A>G Copied from the Exome Variant Server ATP11C_000029 1/10563 0/6728 1/3835
?/? c.565-8T>G r.(=) p.(=) g.138884506A>C Copied from the Exome Variant Server ATP11C_000028 1/10563 1/6728 0/3835
?/? c.568C>A r.(?) p.(His190Asn) g.138884495G>T Copied from the Exome Variant Server ATP11C_000027 1/10563 1/6728 0/3835
?/? c.580C>T r.(?) p.(Arg194Cys) g.138884483G>A Copied from the Exome Variant Server ATP11C_000026 8/10563 8/6728 0/3835
?/? c.648G>A r.(=) p.(=) g.138884415C>T Copied from the Exome Variant Server ATP11C_000134 1/10563 1/6728 0/3835
?/? c.669-51G>A r.(=) p.(=) g.138882320C>T Copied from the Exome Variant Server ATP11C_000133 1/10562 0/6727 1/3835
?/? c.669-18A>G r.(=) p.(=) g.138882287T>C Copied from the Exome Variant Server ATP11C_000115 1/10562 1/6727 0/3835
?/? c.669A>G r.(=) p.(=) g.138882269T>C Copied from the Exome Variant Server ATP11C_000114 3/10562 3/6727 0/3835
?/? c.686A>G r.(?) p.(Asn229Ser) g.138882252T>C Copied from the Exome Variant Server ATP11C_000113 2/10562 0/6727 2/3835
?/? c.719+39G>T r.(=) p.(=) g.138882180C>A Copied from the Exome Variant Server ATP11C_000112 4/10562 3/6727 1/3835
?/? c.719+39_719+40insC r.(=) p.(=) g.138882179_138882180insG Copied from the Exome Variant Server ATP11C_000111 55/10203 1/6482 54/3721
?/? c.720-45A>G r.(=) p.(=) g.138880947T>C Copied from the Exome Variant Server ATP11C_000110 1/10551 0/6721 1/3830
?/? c.720-27_720-26insTTGG r.(=) p.(=) g.138880928_138880929insCCAA Copied from the Exome Variant Server ATP11C_000109 16/10167 0/6468 16/3699
?/? c.771C>T r.(=) p.(=) g.138880851G>A Copied from the Exome Variant Server ATP11C_000108 2/10562 0/6727 2/3835
?/? c.784+3G>A r.spl? p.? g.138880835C>T Copied from the Exome Variant Server ATP11C_000107 440/10562 411/6727 29/3835
?/? c.785-43G>A r.(=) p.(=) g.138880556C>T Copied from the Exome Variant Server ATP11C_000106 81/10558 1/6723 80/3835
?/? c.785-39A>T r.(=) p.(=) g.138880552T>A Copied from the Exome Variant Server ATP11C_000105 1/10561 1/6726 0/3835
?/? c.866+11G>A r.(=) p.(=) g.138880421C>T Copied from the Exome Variant Server ATP11C_000104 1/10562 1/6727 0/3835
?/? c.866+12C>T r.(=) p.(=) g.138880420G>A Copied from the Exome Variant Server ATP11C_000103 1/10562 1/6727 0/3835
?/? c.962A>G r.(?) p.(Tyr321Cys) g.138879390T>C Copied from the Exome Variant Server ATP11C_000102 1/10563 1/6728 0/3835
?/? c.972A>G r.(=) p.(=) g.138879380T>C Copied from the Exome Variant Server ATP11C_000090 42/10563 0/6728 42/3835
?/? c.1004G>A r.(?) p.(Arg335Gln) g.138879348C>T Copied from the Exome Variant Server ATP11C_000089 1/10562 0/6727 1/3835
?/? c.1017+23T>C r.(=) p.(=) g.138879312A>G Copied from the Exome Variant Server ATP11C_000088 1/10563 0/6728 1/3835
?/? c.1017+50A>G r.(=) p.(=) g.138879285T>C Copied from the Exome Variant Server ATP11C_000087 17/10558 0/6728 17/3830
?/? c.1018-12_1018-11del r.(=) p.(=) g.138878640_138878641del Copied from the Exome Variant Server ATP11C_000086 6/10199 6/6480 0/3719
?/? c.1048T>C r.(?) p.(Phe350Leu) g.138878599A>G Copied from the Exome Variant Server ATP11C_000085 1/10563 0/6728 1/3835
?/? c.1114T>C r.(=) p.(=) g.138878533A>G Copied from the Exome Variant Server ATP11C_000084 2/10563 0/6728 2/3835
?/? c.1215+19T>C r.(=) p.(=) g.138878413A>G Copied from the Exome Variant Server ATP11C_000083 1/10558 0/6724 1/3834
?/? c.1215+35A>G r.(=) p.(=) g.138878397T>C Copied from the Exome Variant Server ATP11C_000082 1/10550 0/6722 1/3828
?/? c.1215+36C>T r.(=) p.(=) g.138878396G>A Copied from the Exome Variant Server ATP11C_000081 12/10550 10/6722 2/3828
?/? c.1294C>G r.(?) p.(His432Asp) g.138871569G>C Copied from the Exome Variant Server ATP11C_000080 1/10562 0/6727 1/3835
?/? c.1302T>C r.(=) p.(=) g.138871561A>G Copied from the Exome Variant Server ATP11C_000079 1/10560 1/6727 0/3833
?/? c.1354A>G r.(?) p.(Thr452Ala) g.138871509T>C Copied from the Exome Variant Server ATP11C_000078 2/10562 2/6727 0/3835
?/? c.1377+43A>T r.(=) p.(=) g.138871443T>A Copied from the Exome Variant Server ATP11C_000077 1/10558 0/6727 1/3831
?/? c.1377+43del r.(=) p.(=) g.138871443del Copied from the Exome Variant Server ATP11C_000076 1/10199 1/6483 0/3716
?/? c.1377+48T>C r.(=) p.(=) g.138871438A>G Copied from the Exome Variant Server ATP11C_000075 2/10555 2/6725 0/3830
?/? c.1378-32A>G r.(=) p.(=) g.138870534T>C Copied from the Exome Variant Server ATP11C_000074 11/10563 11/6728 0/3835
?/? c.1378-9G>C r.(=) p.(=) g.138870511C>G Copied from the Exome Variant Server ATP11C_000073 1/10563 1/6728 0/3835
?/? c.1529+45A>C r.(=) p.(=) g.138870306T>G Copied from the Exome Variant Server ATP11C_000072 1/10561 1/6728 0/3833
?/? c.1556G>A r.(?) p.(Arg519Gln) g.138869377C>T Copied from the Exome Variant Server ATP11C_000071 1/10558 0/6726 1/3832
?/? c.1565A>G r.(?) p.(Tyr522Cys) g.138869368T>C Copied from the Exome Variant Server ATP11C_000070 75/10558 63/6726 12/3832
?/? c.1573G>A r.(?) p.(Val525Ile) g.138869360C>T Copied from the Exome Variant Server ATP11C_000069 1/10560 1/6726 0/3834
?/? c.1583A>G r.(?) p.(Gln528Arg) g.138869350T>C Copied from the Exome Variant Server ATP11C_000068 1/10560 1/6726 0/3834
?/? c.1586G>A r.(?) p.(Arg529Lys) g.138869347C>T Copied from the Exome Variant Server ATP11C_000067 1/10560 0/6726 1/3834
?/? c.1653T>C r.(=) p.(=) g.138867407A>G Copied from the Exome Variant Server ATP11C_000066 10/10563 3/6728 7/3835
?/? c.1675+7G>A r.(=) p.(=) g.138867378C>T Copied from the Exome Variant Server ATP11C_000101 2/10563 0/6728 2/3835
?/? c.1675+32T>C r.(=) p.(=) g.138867353A>G Copied from the Exome Variant Server ATP11C_000100 5/10563 4/6728 1/3835
?/? c.1684C>G r.(?) p.(Leu562Val) g.138865418G>C Copied from the Exome Variant Server ATP11C_000099 1/10563 1/6728 0/3835
?/? c.1750A>G r.(?) p.(Thr584Ala) g.138865352T>C Copied from the Exome Variant Server ATP11C_000098 5/10563 4/6728 1/3835
?/? c.1780-51T>G r.(=) p.(=) g.138864938A>C Copied from the Exome Variant Server ATP11C_000097 9/10529 0/6717 9/3812
?/? c.1780-47del r.(=) p.(=) g.138864934del Copied from the Exome Variant Server ATP11C_000096 2967/10127 1953/6453 1014/3674
?/? c.1780-47dup r.(=) p.(=) g.138864934dup Copied from the Exome Variant Server ATP11C_000095 880/10127 568/6453 312/3674
?/? c.1780-47_1780-46del r.(=) p.(=) g.138864933_138864934del Copied from the Exome Variant Server ATP11C_000094 196/10127 132/6453 64/3674
?/? c.1780-43A>G r.(=) p.(=) g.138864930T>C Copied from the Exome Variant Server ATP11C_000093 10/10541 8/6719 2/3822
?/? c.1780-30A>G r.(=) p.(=) g.138864917T>C Copied from the Exome Variant Server ATP11C_000092 1/10561 1/6727 0/3834
?/? c.1780-24A>G r.(=) p.(=) g.138864911T>C Copied from the Exome Variant Server ATP11C_000091 1/10561 1/6726 0/3835
?/? c.1826A>T r.(?) p.(Asp609Val) g.138864841T>A Copied from the Exome Variant Server ATP11C_000132 1/10563 1/6728 0/3835
?/? c.1843A>G r.(?) p.(Asn615Asp) g.138864824T>C Copied from the Exome Variant Server ATP11C_000131 2/10562 0/6727 2/3835
?/? c.1846_1847insA r.(?) p.(Arg616Lysfs*23) g.138864820_138864821insT Copied from the Exome Variant Server ATP11C_000130 1/10205 1/6484 0/3721
?/? c.1893A>G r.(=) p.(=) g.138864774T>C Copied from the Exome Variant Server ATP11C_000129 1/10563 1/6728 0/3835
?/? c.1961+20C>G r.(=) p.(=) g.138864686G>C Copied from the Exome Variant Server ATP11C_000128 1/10562 1/6727 0/3835
?/? c.1962-20G>C r.(=) p.(=) g.138857132C>G Copied from the Exome Variant Server ATP11C_000127 1/10563 1/6728 0/3835
?/? c.1962-4C>G r.spl? p.? g.138857116G>C Copied from the Exome Variant Server ATP11C_000126 1/10563 1/6728 0/3835
?/? c.2066A>G r.(?) p.(Tyr689Cys) g.138857008T>C Copied from the Exome Variant Server ATP11C_000125 7/10563 0/6728 7/3835
?/? c.2074C>T r.(?) p.(Arg692Cys) g.138857000G>A Copied from the Exome Variant Server ATP11C_000124 1/10563 1/6728 0/3835
?/? c.2103A>G r.(=) p.(=) g.138856971T>C Copied from the Exome Variant Server ATP11C_000123 1/10563 0/6728 1/3835
?/? c.2106A>G r.(=) p.(=) g.138856968T>C Copied from the Exome Variant Server ATP11C_000122 1/10563 0/6728 1/3835
?/? c.2115A>G r.(=) p.(=) g.138856959T>C Copied from the Exome Variant Server ATP11C_000121 1/10563 0/6728 1/3835
?/? c.2123T>C r.(?) p.(Ile708Thr) g.138856951A>G Copied from the Exome Variant Server ATP11C_000120 1/10563 0/6728 1/3835
?/? c.2150G>A r.(?) p.(Arg717Gln) g.138856924C>T Copied from the Exome Variant Server ATP11C_000025 2/10563 0/6728 2/3835
?/? c.2168T>G r.(?) p.(Ile723Arg) g.138856906A>C Copied from the Exome Variant Server ATP11C_000024 1/10563 1/6728 0/3835
?/? c.2177G>A r.(?) p.(Arg726His) g.138856897C>T Copied from the Exome Variant Server ATP11C_000023 1/10563 1/6728 0/3835
?/? c.2226-36A>G r.(=) p.(=) g.138850629T>C Copied from the Exome Variant Server ATP11C_000022 1/10561 0/6726 1/3835
?/? c.2400+43A>G r.(=) p.(=) g.138850376T>C Copied from the Exome Variant Server ATP11C_000021 4/10559 1/6726 3/3833
?/? c.2400+51A>G r.(=) p.(=) g.138850368T>C Copied from the Exome Variant Server ATP11C_000020 9/10557 9/6724 0/3833
?/? c.2401-46A>G r.(=) p.(=) g.138845623T>C Copied from the Exome Variant Server ATP11C_000019 1/10560 0/6727 1/3833
?/? c.2448G>A r.(=) p.(=) g.138845530C>T Copied from the Exome Variant Server ATP11C_000018 1/10563 0/6728 1/3835
?/? c.2504-31A>G r.(=) p.(=) g.138844296T>C Copied from the Exome Variant Server ATP11C_000017 17/10563 0/6728 17/3835
?/? c.2504-9C>G r.(=) p.(=) g.138844274G>C Copied from the Exome Variant Server ATP11C_000016 1/10563 0/6728 1/3835
?/? c.2587T>C r.(=) p.(=) g.138844182A>G Copied from the Exome Variant Server ATP11C_000015 1/10563 0/6728 1/3835
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