All transcript variants in gene SLC9A7

Information The variants shown are described using the NM_032591.2 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.73_87del r.(?) p.(Leu25_Leu29del) g.46618378_46618392del Copied from the Exome Variant Server SLC9A7_000091 15/5180 11/3533 4/1647
?/? c.144G>C r.(=) p.(=) g.46618321C>G Copied from the Exome Variant Server SLC9A7_000090 6471/10540 2995/6718 3476/3822
?/? c.146A>C r.(?) p.(Glu49Ala) g.46618319T>G Copied from the Exome Variant Server SLC9A7_000089 3/10547 0/6720 3/3827
?/? c.173C>A r.(?) p.(Ala58Asp) g.46618292G>T Copied from the Exome Variant Server SLC9A7_000088 1/10563 1/6728 0/3835
?/? c.258C>T r.(=) p.(=) g.46618207G>A Copied from the Exome Variant Server SLC9A7_000087 1/10563 0/6728 1/3835
?/? c.325+44C>A r.(=) p.(=) g.46618096G>T Copied from the Exome Variant Server SLC9A7_000086 32/10389 0/6601 32/3788
?/? c.398C>T r.(?) p.(Thr133Ile) g.46541898G>A Copied from the Exome Variant Server SLC9A7_000085 1/10563 0/6728 1/3835
?/? c.453C>T r.(=) p.(=) g.46541843G>A Copied from the Exome Variant Server SLC9A7_000084 1/10563 1/6728 0/3835
?/? c.498C>T r.(=) p.(=) g.46541798G>A Copied from the Exome Variant Server SLC9A7_000083 2/10563 0/6728 2/3835
?/? c.525+28G>A r.(=) p.(=) g.46541743C>T Copied from the Exome Variant Server SLC9A7_000082 2/10563 0/6728 2/3835
?/? c.525+36A>G r.(=) p.(=) g.46541735T>C Copied from the Exome Variant Server SLC9A7_000081 2/10563 0/6728 2/3835
?/? c.526-28T>A r.(=) p.(=) g.46539218A>T Copied from the Exome Variant Server SLC9A7_000080 1/10505 0/6692 1/3813
?/? c.526-25_526-24insA r.(=) p.(=) g.46539214_46539215insT Copied from the Exome Variant Server SLC9A7_000079 5/10155 3/6458 2/3697
?/? c.531A>G r.(=) p.(=) g.46539185T>C Copied from the Exome Variant Server SLC9A7_000078 1/10556 1/6721 0/3835
?/? c.534C>T r.(=) p.(=) g.46539182G>A Copied from the Exome Variant Server SLC9A7_000077 1/10556 0/6721 1/3835
?/? c.603+55C>T r.(=) p.(=) g.46539058G>A Copied from the Exome Variant Server SLC9A7_000076 21/3598 20/2389 1/1209
?/? c.604-59_604-58del r.(=) p.(=) g.46532120_46532121del Copied from the Exome Variant Server SLC9A7_000075 32/10205 9/6484 23/3721
?/? c.604-55_604-54insT r.(=) p.(=) g.46532116_46532117insA Copied from the Exome Variant Server SLC9A7_000074 20/10205 5/6484 15/3721
?/? c.604-11_604-8del r.(=) p.(=) g.46532070_46532073del Copied from the Exome Variant Server SLC9A7_000073 3/10205 2/6484 1/3721
?/? c.631A>G r.(?) p.(Ile211Val) g.46532035T>C Copied from the Exome Variant Server SLC9A7_000072 1/10563 1/6728 0/3835
?/? c.645C>G r.(=) p.(=) g.46532021G>C Copied from the Exome Variant Server SLC9A7_000071 1/10563 0/6728 1/3835
?/? c.661G>A r.(?) p.(Val221Ile) g.46532005C>T Copied from the Exome Variant Server SLC9A7_000070 2/10563 2/6728 0/3835
?/? c.681-38T>G r.(=) p.(=) g.46529192A>C Copied from the Exome Variant Server SLC9A7_000069 32/10563 30/6728 2/3835
?/? c.681-11C>T r.(=) p.(=) g.46529165G>A Copied from the Exome Variant Server SLC9A7_000068 1/10563 1/6728 0/3835
?/? c.681-3C>T r.spl? p.? g.46529157G>A Copied from the Exome Variant Server SLC9A7_000067 1/10563 1/6728 0/3835
?/? c.793+20T>C r.(=) p.(=) g.46529022A>G Copied from the Exome Variant Server SLC9A7_000066 1/10563 0/6728 1/3835
?/? c.843C>T r.(=) p.(=) g.46522029G>A Copied from the Exome Variant Server SLC9A7_000065 1/10563 1/6728 0/3835
?/? c.923C>T r.(?) p.(Ala308Val) g.46521569G>A Copied from the Exome Variant Server SLC9A7_000064 1/10563 1/6728 0/3835
?/? c.1029+3G>C r.spl? p.? g.46521460C>G Copied from the Exome Variant Server SLC9A7_000063 9/10556 0/6721 9/3835
?/? c.1029+27G>C r.(=) p.(=) g.46521436C>G Copied from the Exome Variant Server SLC9A7_000062 1/10545 1/6712 0/3833
?/? c.1029+37G>A r.(=) p.(=) g.46521426C>T Copied from the Exome Variant Server SLC9A7_000061 26/10526 0/6697 26/3829
?/? c.1086G>A r.(=) p.(=) g.46513102C>T Copied from the Exome Variant Server SLC9A7_000060 2/10563 2/6728 0/3835
?/? c.1143A>T r.(=) p.(=) g.46513045T>A Copied from the Exome Variant Server SLC9A7_000059 2/10563 0/6728 2/3835
?/? c.1144+14A>G r.(=) p.(=) g.46513030T>C Copied from the Exome Variant Server SLC9A7_000058 12/10562 0/6728 12/3834
?/? c.1144+31C>A r.(=) p.(=) g.46513013G>T Copied from the Exome Variant Server SLC9A7_000057 5/10562 5/6728 0/3834
?/? c.1144+52G>A r.(=) p.(=) g.46512992C>T Copied from the Exome Variant Server SLC9A7_000056 25/4523 24/3106 1/1417
?/? c.1145-52del r.(=) p.(=) g.46510891del Copied from the Exome Variant Server SLC9A7_000055 765/10149 512/6469 253/3680
?/? c.1145-52dup r.(=) p.(=) g.46510891dup Copied from the Exome Variant Server SLC9A7_000054 400/10149 190/6469 210/3680
?/? c.1145-34_1145-33insT r.(=) p.(=) g.46510872_46510873insA Copied from the Exome Variant Server SLC9A7_000053 180/10195 90/6482 90/3713
?/? c.1145-33_1145-31del r.(=) p.(=) g.46510870_46510872del Copied from the Exome Variant Server SLC9A7_000052 80/10204 42/6483 38/3721
?/? c.1152A>G r.(=) p.(=) g.46510832T>C Copied from the Exome Variant Server SLC9A7_000051 25/10563 25/6728 0/3835
?/? c.1155T>C r.(=) p.(=) g.46510829A>G Copied from the Exome Variant Server SLC9A7_000050 13/10563 0/6728 13/3835
?/? c.1161T>C r.(=) p.(=) g.46510823A>G Copied from the Exome Variant Server SLC9A7_000049 1/10563 1/6728 0/3835
?/? c.1234-33G>A r.(=) p.(=) g.46510691C>T Copied from the Exome Variant Server SLC9A7_000048 4/10563 0/6728 4/3835
?/? c.1327A>G r.(?) p.(Ile443Val) g.46510565T>C Copied from the Exome Variant Server SLC9A7_000047 3/10563 3/6728 0/3835
?/? c.1347+14G>A r.(=) p.(=) g.46510531C>T Copied from the Exome Variant Server SLC9A7_000046 1/10563 1/6728 0/3835
?/? c.1348-20A>G r.(=) p.(=) g.46508252T>C Copied from the Exome Variant Server SLC9A7_000045 1/10563 0/6728 1/3835
?/? c.1348-18C>T r.(=) p.(=) g.46508250G>A Copied from the Exome Variant Server SLC9A7_000092 4/10563 0/6728 4/3835
?/? c.1373C>T r.(?) p.(Ala458Val) g.46508207G>A Copied from the Exome Variant Server SLC9A7_000042 1/10563 0/6728 1/3835
?/? c.1459+10C>T r.(=) p.(=) g.46508111G>A Copied from the Exome Variant Server SLC9A7_000040 4/10563 3/6728 1/3835
?/? c.1459+11G>A r.(=) p.(=) g.46508110C>T Copied from the Exome Variant Server SLC9A7_000038 1/10563 1/6728 0/3835
?/? c.1460-45G>A r.(=) p.(=) g.46502869C>T Copied from the Exome Variant Server SLC9A7_000036 2/10563 0/6728 2/3835
?/? c.1460-16T>C r.(=) p.(=) g.46502840A>G Copied from the Exome Variant Server SLC9A7_000034 1/10563 1/6728 0/3835
?/? c.1460-15_1460-13del r.(=) p.(=) g.46502837_46502839del Copied from the Exome Variant Server SLC9A7_000032 454/10205 418/6484 36/3721
?/? c.1460-5C>T r.spl? p.? g.46502829G>A Copied from the Exome Variant Server SLC9A7_000030 1/10563 0/6728 1/3835
?/? c.1460-4G>A r.spl? p.? g.46502828C>T Copied from the Exome Variant Server SLC9A7_000044 1/10563 0/6728 1/3835
?/? c.1600T>C r.(?) p.(Trp534Arg) g.46502684A>G Copied from the Exome Variant Server SLC9A7_000043 2/10563 2/6728 0/3835
?/? c.1612A>G r.(?) p.(Arg538Gly) g.46502672T>C Copied from the Exome Variant Server SLC9A7_000041 1/10563 0/6728 1/3835
?/? c.1614-44C>T r.(=) p.(=) g.46495127G>A Copied from the Exome Variant Server SLC9A7_000039 2/10563 2/6728 0/3835
?/? c.1620C>T r.(=) p.(=) g.46495077G>A Copied from the Exome Variant Server SLC9A7_000037 1/10563 1/6728 0/3835
?/? c.1624G>A r.(?) p.(Glu542Lys) g.46495073C>T Copied from the Exome Variant Server SLC9A7_000035 14/10563 2/6728 12/3835
?/? c.1636G>A r.(?) p.(Glu546Lys) g.46495061C>T Copied from the Exome Variant Server SLC9A7_000033 1/10563 0/6728 1/3835
?/? c.1674-31T>C r.(=) p.(=) g.46491115A>G Copied from the Exome Variant Server SLC9A7_000031 1/10563 1/6728 0/3835
?/? c.1674-25del r.(=) p.(=) g.46491109del Copied from the Exome Variant Server SLC9A7_000029 43/10205 0/6484 43/3721
?/? c.1684G>A r.(?) p.(Asp562Asn) g.46491074C>T Copied from the Exome Variant Server SLC9A7_000028 1/10563 1/6728 0/3835
?/? c.1690G>A r.(?) p.(Asp564Asn) g.46491068C>T Copied from the Exome Variant Server SLC9A7_000027 1/10563 1/6728 0/3835
?/? c.1730T>C r.(?) p.(Leu577Ser) g.46491028A>G Copied from the Exome Variant Server SLC9A7_000026 1/10563 1/6728 0/3835
?/? c.1737+9C>T r.(=) p.(=) g.46491012G>A Copied from the Exome Variant Server SLC9A7_000025 1/10563 1/6728 0/3835
?/? c.1737+47C>T r.(=) p.(=) g.46490974G>A Copied from the Exome Variant Server SLC9A7_000024 1/10562 1/6728 0/3834
?/? c.1740C>T r.(=) p.(=) g.46480492G>A Copied from the Exome Variant Server SLC9A7_000023 7/10562 7/6727 0/3835
?/? c.1753G>T r.(?) p.(Ala585Ser) g.46480479C>A Copied from the Exome Variant Server SLC9A7_000022 1/10563 0/6728 1/3835
?/? c.1766G>A r.(?) p.(Arg589Gln) g.46480466C>T Copied from the Exome Variant Server SLC9A7_000021 1/10563 0/6728 1/3835
?/? c.1782C>T r.(=) p.(=) g.46480450G>A Copied from the Exome Variant Server SLC9A7_000020 3/10563 3/6728 0/3835
?/? c.1820+29C>T r.(=) p.(=) g.46480383G>A Copied from the Exome Variant Server SLC9A7_000019 2/10560 0/6725 2/3835
?/? c.1824C>T r.(=) p.(=) g.46472826G>A Copied from the Exome Variant Server SLC9A7_000018 6638/10563 3336/6728 3302/3835
?/? c.1845C>A r.(?) p.(His615Gln) g.46472805G>T Copied from the Exome Variant Server SLC9A7_000017 1/10563 1/6728 0/3835
?/? c.1875C>T r.(=) p.(=) g.46472775G>A Copied from the Exome Variant Server SLC9A7_000016 3/10563 0/6728 3/3835
?/? c.1885G>A r.(?) p.(Gly629Ser) g.46472765C>T Copied from the Exome Variant Server SLC9A7_000015 1/10563 0/6728 1/3835
?/? c.1927-36C>T r.(=) p.(=) g.46466674G>A Copied from the Exome Variant Server SLC9A7_000014 1/10563 0/6728 1/3835
?/? c.1927-11G>T r.(=) p.(=) g.46466649C>A Copied from the Exome Variant Server SLC9A7_000012 2/10563 1/6728 1/3835
?/? c.1978G>A r.(?) p.(Asp660Asn) g.46466587C>T Copied from the Exome Variant Server SLC9A7_000013 1/10563 1/6728 0/3835
?/? c.1990A>G r.(?) p.(Thr664Ala) g.46466575T>C Copied from the Exome Variant Server SLC9A7_000011 1/10563 0/6728 1/3835
?/? c.2041G>A r.(?) p.(Ala681Thr) g.46466524C>T Copied from the Exome Variant Server SLC9A7_000010 1/10563 1/6728 0/3835
?/? c.2048C>T r.(?) p.(Thr683Met) g.46466517G>A Copied from the Exome Variant Server SLC9A7_000009 2/10563 2/6728 0/3835
?/? c.2070A>G r.(=) p.(=) g.46466495T>C Copied from the Exome Variant Server SLC9A7_000008 61/10563 1/6728 60/3835
?/? c.2072C>T r.(?) p.(Thr691Met) g.46466493G>A Copied from the Exome Variant Server SLC9A7_000007 1/10563 0/6728 1/3835
?/? c.2094G>C r.(=) p.(=) g.46466471C>G Copied from the Exome Variant Server SLC9A7_000006 2/10563 0/6728 2/3835
?/? c.2133G>A r.(=) p.(=) g.46466432C>T Copied from the Exome Variant Server SLC9A7_000005 2/10563 0/6728 2/3835
?/? c.*10del r.(=) p.(=) g.46466377del Copied from the Exome Variant Server SLC9A7_000004 8/10205 7/6484 1/3721
?/? c.*20C>T r.(=) p.(=) g.46466367G>A Copied from the Exome Variant Server SLC9A7_000003 1/10563 1/6728 0/3835
?/? c.*22C>A r.(=) p.(=) g.46466365G>T Copied from the Exome Variant Server SLC9A7_000002 9/10563 9/6728 0/3835
?/? c.*45G>A r.(=) p.(=) g.46466342C>T Copied from the Exome Variant Server SLC9A7_000001 50/10563 0/6728 50/3835
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