Unique variants in gene SLC7A3

Information The variants shown are described using the NM_032803.5 transcript reference sequence.

82 entries on 1 page. Showing entries 1 - 82.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-25-16T>C r.(=) p.(=) g.70149888A>G Copied from the Exome Variant Server SLC7A3_000082 74/10559 67/6725 7/3834
1 c.-25-15C>G r.(=) p.(=) g.70149887G>C Copied from the Exome Variant Server SLC7A3_000081 1/10559 0/6725 1/3834
1 c.-25-11T>C r.(=) p.(=) g.70149883A>G Copied from the Exome Variant Server SLC7A3_000080 23/10559 0/6725 23/3834
1 c.5C>T r.(?) p.(Pro2Leu) g.70149843G>A Copied from the Exome Variant Server SLC7A3_000079 1/10563 1/6728 0/3835
1 c.49C>T r.(?) p.(Arg17Cys) g.70149799G>A Copied from the Exome Variant Server SLC7A3_000078 1/10563 1/6728 0/3835
1 c.77C>T r.(?) p.(Thr26Ile) g.70149771G>A Copied from the Exome Variant Server SLC7A3_000077 1/10563 0/6728 1/3835
1 c.202A>G r.(?) p.(Ile68Val) g.70149646T>C Copied from the Exome Variant Server SLC7A3_000076 1/10563 1/6728 0/3835
1 c.277C>T r.(?) p.(Arg93Cys) g.70149571G>A Copied from the Exome Variant Server SLC7A3_000075 1/10563 0/6728 1/3835
1 c.278G>A r.(?) p.(Arg93His) g.70149570C>T Copied from the Exome Variant Server SLC7A3_000074 2/10563 0/6728 2/3835
1 c.357C>T r.(=) p.(=) g.70149491G>A Copied from the Exome Variant Server SLC7A3_000073 1/10563 1/6728 0/3835
1 c.370+10G>A r.(=) p.(=) g.70149468C>T Copied from the Exome Variant Server SLC7A3_000072 1/10563 0/6728 1/3835
1 c.370+13G>C r.(=) p.(=) g.70149465C>G Copied from the Exome Variant Server SLC7A3_000071 3/10563 0/6728 3/3835
1 c.370+24G>A r.(=) p.(=) g.70149454C>T Copied from the Exome Variant Server SLC7A3_000070 3/10562 3/6728 0/3834
1 c.370+33C>T r.(=) p.(=) g.70149445G>A Copied from the Exome Variant Server SLC7A3_000069 1/10562 1/6728 0/3834
1 c.454A>G r.(?) p.(Ile152Val) g.70148769T>C Copied from the Exome Variant Server SLC7A3_000068 1/10563 1/6728 0/3835
1 c.461T>C r.(?) p.(Leu154Pro) g.70148762A>G Copied from the Exome Variant Server SLC7A3_000067 2/10563 2/6728 0/3835
1 c.498C>T r.(=) p.(=) g.70148725G>A Copied from the Exome Variant Server SLC7A3_000066 1/10563 0/6728 1/3835
1 c.514G>T r.(?) p.(Val172Leu) g.70148709C>A Copied from the Exome Variant Server SLC7A3_000065 1/10563 0/6728 1/3835
1 c.529+23A>T r.(=) p.(=) g.70148671T>A Copied from the Exome Variant Server SLC7A3_000064 1/10563 0/6728 1/3835
1 c.539C>T r.(?) p.(Ala180Val) g.70148474G>A Copied from the Exome Variant Server SLC7A3_000063 1/10563 0/6728 1/3835
1 c.557C>T r.(?) p.(Ser186Leu) g.70148456G>A Copied from the Exome Variant Server SLC7A3_000062 2/10563 2/6728 0/3835
1 c.575T>C r.(?) p.(Val192Ala) g.70148438A>G Copied from the Exome Variant Server SLC7A3_000061 1/10563 0/6728 1/3835
1 c.585C>T r.(=) p.(=) g.70148428G>A Copied from the Exome Variant Server SLC7A3_000060 1/10563 1/6728 0/3835
1 c.606G>A r.(=) p.(=) g.70148407C>T Copied from the Exome Variant Server SLC7A3_000059 2/10563 1/6728 1/3835
1 c.618C>T r.(=) p.(=) g.70148395G>A Copied from the Exome Variant Server SLC7A3_000058 5/10563 5/6728 0/3835
1 c.660A>C r.(=) p.(=) g.70148353T>G Copied from the Exome Variant Server SLC7A3_000057 2/10562 2/6727 0/3835
1 c.698A>T r.(?) p.(Asp233Val) g.70148315T>A Copied from the Exome Variant Server SLC7A3_000056 2/10562 0/6727 2/3835
1 c.708-35C>T r.(=) p.(=) g.70148142G>A Copied from the Exome Variant Server SLC7A3_000055 1/10562 1/6727 0/3835
1 c.713G>C r.(?) p.(Gly238Ala) g.70148102C>G Copied from the Exome Variant Server SLC7A3_000054 1/10563 0/6728 1/3835
1 c.744C>T r.(=) p.(=) g.70148071G>A Copied from the Exome Variant Server SLC7A3_000053 111/10563 103/6728 8/3835
1 c.820+29G>T r.(=) p.(=) g.70147966C>A Copied from the Exome Variant Server SLC7A3_000052 1/10563 1/6728 0/3835
1 c.820+41T>C r.(=) p.(=) g.70147954A>G Copied from the Exome Variant Server SLC7A3_000051 1/10563 0/6728 1/3835
1 c.820+46_820+47insTG r.(=) p.(=) g.70147948_70147949insCA Copied from the Exome Variant Server SLC7A3_000050 2/10203 1/6482 1/3721
1 c.821-47G>A r.(=) p.(=) g.70147917C>T Copied from the Exome Variant Server SLC7A3_000049 1/10563 1/6728 0/3835
1 c.821-46G>A r.(=) p.(=) g.70147916C>T Copied from the Exome Variant Server SLC7A3_000048 3/10562 3/6728 0/3834
1 c.845G>A r.(?) p.(Arg282His) g.70147846C>T Copied from the Exome Variant Server SLC7A3_000047 7/10563 0/6728 7/3835
1 c.852C>T r.(=) p.(=) g.70147839G>A Copied from the Exome Variant Server SLC7A3_000046 3/10563 3/6728 0/3835
1 c.855G>A r.(=) p.(=) g.70147836C>T Copied from the Exome Variant Server SLC7A3_000045 314/10563 284/6728 30/3835
1 c.936C>T r.(=) p.(=) g.70147755G>A Copied from the Exome Variant Server SLC7A3_000044 2/10563 0/6728 2/3835
1 c.958C>T r.(?) p.(Pro320Ser) g.70147733G>A Copied from the Exome Variant Server SLC7A3_000043 1/10562 0/6727 1/3835
1 c.963G>A r.(=) p.(=) g.70147728C>T Copied from the Exome Variant Server SLC7A3_000042 1/10562 1/6727 0/3835
1 c.1005T>C r.(=) p.(=) g.70147686A>G Copied from the Exome Variant Server SLC7A3_000041 95/10555 1/6723 94/3832
1 c.1032T>C r.(=) p.(=) g.70147659A>G Copied from the Exome Variant Server SLC7A3_000040 306/10524 271/6706 35/3818
1 c.1056C>T r.(=) p.(=) g.70147461G>A Copied from the Exome Variant Server SLC7A3_000039 1/10563 1/6728 0/3835
1 c.1074G>A r.(=) p.(=) g.70147443C>T Copied from the Exome Variant Server SLC7A3_000038 9/10563 0/6728 9/3835
1 c.1107G>A r.(=) p.(=) g.70147410C>T Copied from the Exome Variant Server SLC7A3_000037 1/10563 0/6728 1/3835
1 c.1133C>G r.(?) p.(Thr378Ser) g.70147384G>C Copied from the Exome Variant Server SLC7A3_000036 1/10563 1/6728 0/3835
1 c.1134C>T r.(=) p.(=) g.70147383G>A Copied from the Exome Variant Server SLC7A3_000035 1/10563 1/6728 0/3835
1 c.1141C>T r.(?) p.(Arg381Cys) g.70147376G>A Copied from the Exome Variant Server SLC7A3_000034 1/10563 1/6728 0/3835
1 c.1142G>A r.(?) p.(Arg381His) g.70147375C>T Copied from the Exome Variant Server SLC7A3_000033 1/10563 1/6728 0/3835
1 c.1150A>G r.(?) p.(Ile384Val) g.70147367T>C Copied from the Exome Variant Server SLC7A3_000032 1/10563 0/6728 1/3835
1 c.1183+29G>T r.(=) p.(=) g.70147305C>A Copied from the Exome Variant Server SLC7A3_000031 1/10563 1/6728 0/3835
1 c.1183+36C>T r.(=) p.(=) g.70147298G>A Copied from the Exome Variant Server SLC7A3_000030 1/10563 1/6728 0/3835
1 c.1184-47T>G r.(=) p.(=) g.70147281A>C Copied from the Exome Variant Server SLC7A3_000029 2/10563 0/6728 2/3835
1 c.1184-30C>A r.(=) p.(=) g.70147264G>T Copied from the Exome Variant Server SLC7A3_000028 1/10563 0/6728 1/3835
1 c.1185A>G r.(=) p.(=) g.70147233T>C Copied from the Exome Variant Server SLC7A3_000027 1/10563 0/6728 1/3835
1 c.1235T>C r.(?) p.(Ile412Thr) g.70147183A>G Copied from the Exome Variant Server SLC7A3_000026 1/10563 1/6728 0/3835
1 c.1259T>A r.(?) p.(Leu420Gln) g.70147159A>T Copied from the Exome Variant Server SLC7A3_000025 2/10563 2/6728 0/3835
1 c.1286+35T>C r.(=) p.(=) g.70147097A>G Copied from the Exome Variant Server SLC7A3_000024 1/10561 1/6727 0/3834
1 c.1453+24G>A r.(=) p.(=) g.70146701C>T Copied from the Exome Variant Server SLC7A3_000023 2/10563 0/6728 2/3835
1 c.1453+41G>A r.(=) p.(=) g.70146684C>T Copied from the Exome Variant Server SLC7A3_000022 2/10563 0/6728 2/3835
1 c.1454-24T>C r.(=) p.(=) g.70146567A>G Copied from the Exome Variant Server SLC7A3_000021 1/10543 1/6717 0/3826
1 c.1522C>G r.(?) p.(Leu508Val) g.70146475G>C Copied from the Exome Variant Server SLC7A3_000020 2803/10560 638/6726 2165/3834
1 c.1570A>G r.(?) p.(Ile524Val) g.70146427T>C Copied from the Exome Variant Server SLC7A3_000019 1/10558 1/6724 0/3834
1 c.1599T>C r.(=) p.(=) g.70146398A>G Copied from the Exome Variant Server SLC7A3_000018 7244/10553 4337/6722 2907/3831
1 c.1620+16C>A r.(=) p.(=) g.70146361G>T Copied from the Exome Variant Server SLC7A3_000017 3/10552 3/6721 0/3831
1 c.1621-10T>G r.(=) p.(=) g.70146038A>C Copied from the Exome Variant Server SLC7A3_000016 1/10563 1/6728 0/3835
1 c.1621-6T>C r.(=) p.(=) g.70146034A>G Copied from the Exome Variant Server SLC7A3_000015 1555/10563 777/6728 778/3835
1 c.1705C>T r.(?) p.(Arg569*) g.70145944G>A Copied from the Exome Variant Server SLC7A3_000014 1/10563 1/6728 0/3835
1 c.1729+13T>C r.(=) p.(=) g.70145907A>G Copied from the Exome Variant Server SLC7A3_000013 5/10563 0/6728 5/3835
1 c.1729+20G>A r.(=) p.(=) g.70145900C>T Copied from the Exome Variant Server SLC7A3_000012 1/10563 0/6728 1/3835
1 c.1730-52del r.(=) p.(=) g.70145845del Copied from the Exome Variant Server SLC7A3_000011 222/10203 203/6482 19/3721
1 c.1746C>T r.(=) p.(=) g.70145777G>A Copied from the Exome Variant Server SLC7A3_000010 1/10563 1/6728 0/3835
1 c.1761G>A r.(=) p.(=) g.70145762C>T Copied from the Exome Variant Server SLC7A3_000009 3/10563 0/6728 3/3835
1 c.1766G>C r.(?) p.(Ser589Thr) g.70145757C>G Copied from the Exome Variant Server SLC7A3_000008 26/10563 23/6728 3/3835
1 c.1788C>G r.(?) p.(Asn596Lys) g.70145735G>C Copied from the Exome Variant Server SLC7A3_000007 1/10563 0/6728 1/3835
1 c.1798C>T r.(?) p.(Arg600Cys) g.70145725G>A Copied from the Exome Variant Server SLC7A3_000006 2/10563 2/6728 0/3835
1 c.1799G>A r.(?) p.(Arg600His) g.70145724C>T Copied from the Exome Variant Server SLC7A3_000005 7/10563 7/6728 0/3835
1 c.1833C>T r.(=) p.(=) g.70145690G>A Copied from the Exome Variant Server SLC7A3_000004 1/10563 1/6728 0/3835
1 c.1838C>G r.(?) p.(Thr613Ser) g.70145685G>C Copied from the Exome Variant Server SLC7A3_000003 1/10563 1/6728 0/3835
1 c.*5G>A r.(=) p.(=) g.70145658C>T Copied from the Exome Variant Server SLC7A3_000002 2/10563 1/6728 1/3835
1 c.*17T>A r.(=) p.(=) g.70145646A>T Copied from the Exome Variant Server SLC7A3_000001 1/10563 1/6728 0/3835
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