All transcript variants in gene SLC38A5

Information The variants shown are described using the NM_033518.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-1-42C>T r.(=) p.(=) g.48326354G>A Copied from the Exome Variant Server SLC38A5_000074 7/10550 0/6723 7/3827
?/? c.42G>A r.(=) p.(=) g.48326270C>T Copied from the Exome Variant Server SLC38A5_000073 46/10561 1/6726 45/3835
?/? c.44A>G r.(?) p.(Asp15Gly) g.48326268T>C Copied from the Exome Variant Server SLC38A5_000072 1/10561 0/6726 1/3835
?/? c.53+8_53+9del r.(=) p.(=) g.48326250_48326251del Copied from the Exome Variant Server SLC38A5_000071 1/10203 1/6482 0/3721
?/? c.53+21G>A r.(=) p.(=) g.48326238C>T Copied from the Exome Variant Server SLC38A5_000070 4/10562 4/6727 0/3835
?/? c.53+29C>A r.(=) p.(=) g.48326230G>T Copied from the Exome Variant Server SLC38A5_000069 1/10562 1/6727 0/3835
?/? c.53+43T>C r.(=) p.(=) g.48326216A>G Copied from the Exome Variant Server SLC38A5_000068 3851/10561 1185/6726 2666/3835
?/? c.60G>A r.(=) p.(=) g.48326166C>T Copied from the Exome Variant Server SLC38A5_000067 1/10562 0/6727 1/3835
?/? c.68G>A r.(?) p.(Arg23His) g.48326158C>T Copied from the Exome Variant Server SLC38A5_000066 1/10561 1/6727 0/3834
?/? c.88C>G r.(?) p.(Arg30Gly) g.48326138G>C Copied from the Exome Variant Server SLC38A5_000065 1/10561 1/6727 0/3834
?/? c.90T>C r.(=) p.(=) g.48326136A>G Copied from the Exome Variant Server SLC38A5_000064 14/10561 0/6727 14/3834
?/? c.101C>T r.(?) p.(Pro34Leu) g.48326125G>A Copied from the Exome Variant Server SLC38A5_000063 1/10561 0/6727 1/3834
?/? c.113C>T r.(?) p.(Pro38Leu) g.48326113G>A Copied from the Exome Variant Server SLC38A5_000062 1/10562 1/6727 0/3835
?/? c.114G>A r.(=) p.(=) g.48326112C>T Copied from the Exome Variant Server SLC38A5_000061 1/10562 0/6727 1/3835
?/? c.115G>T r.(?) p.(Val39Phe) g.48326111C>A Copied from the Exome Variant Server SLC38A5_000060 1/10562 0/6727 1/3835
?/? c.117C>T r.(=) p.(=) g.48326109G>A Copied from the Exome Variant Server SLC38A5_000059 5/10562 0/6727 5/3835
?/? c.129+8G>T r.(=) p.(=) g.48326089C>A Copied from the Exome Variant Server SLC38A5_000058 86/10558 1/6726 85/3832
?/? c.129+16G>A r.(=) p.(=) g.48326081C>T Copied from the Exome Variant Server SLC38A5_000057 1/10558 1/6725 0/3833
?/? c.129+57G>A r.(=) p.(=) g.48326040C>T Copied from the Exome Variant Server SLC38A5_000056 2/3600 0/2391 2/1209
?/? c.130-6G>A r.(=) p.(=) g.48325470C>T Copied from the Exome Variant Server SLC38A5_000055 1/10563 1/6728 0/3835
?/? c.177C>T r.(=) p.(=) g.48325417G>A Copied from the Exome Variant Server SLC38A5_000054 1/10563 0/6728 1/3835
?/? c.228G>A r.(=) p.(=) g.48325366C>T Copied from the Exome Variant Server SLC38A5_000053 1/10563 1/6728 0/3835
?/? c.231G>A r.(=) p.(=) g.48325363C>T Copied from the Exome Variant Server SLC38A5_000052 1/10563 1/6728 0/3835
?/? c.282C>T r.(=) p.(=) g.48325223G>A Copied from the Exome Variant Server SLC38A5_000051 1/10550 1/6724 0/3826
?/? c.319+56C>G r.(=) p.(=) g.48325130G>C Copied from the Exome Variant Server SLC38A5_000050 3/3600 0/2391 3/1209
?/? c.357C>T r.(=) p.(=) g.48324672G>A Copied from the Exome Variant Server SLC38A5_000049 2/10563 2/6728 0/3835
?/? c.412+36G>A r.(=) p.(=) g.48324581C>T Copied from the Exome Variant Server SLC38A5_000048 1/10429 0/6637 1/3792
?/? c.412+51G>A r.(=) p.(=) g.48324566C>T Copied from the Exome Variant Server SLC38A5_000047 2/10413 0/6625 2/3788
?/? c.459T>A r.(=) p.(=) g.48324434A>T Copied from the Exome Variant Server SLC38A5_000046 1/10563 0/6728 1/3835
?/? c.491+59G>A r.(=) p.(=) g.48324343C>T Copied from the Exome Variant Server SLC38A5_000045 2/3600 2/2391 0/1209
?/? c.492-12C>T r.(=) p.(=) g.48321377G>A Copied from the Exome Variant Server SLC38A5_000044 6/10557 6/6724 0/3833
?/? c.525C>A r.(=) p.(=) g.48321332G>T Copied from the Exome Variant Server SLC38A5_000043 2/10561 2/6726 0/3835
?/? c.555C>T r.(=) p.(=) g.48321302G>A Copied from the Exome Variant Server SLC38A5_000042 1/10562 1/6727 0/3835
?/? c.573G>A r.(=) p.(=) g.48321284C>T Copied from the Exome Variant Server SLC38A5_000041 2/10562 2/6727 0/3835
?/? c.574+32G>C r.(=) p.(=) g.48321251C>G Copied from the Exome Variant Server SLC38A5_000040 45/10557 39/6722 6/3835
?/? c.574+41G>C r.(=) p.(=) g.48321242C>G Copied from the Exome Variant Server SLC38A5_000039 1/10555 1/6720 0/3835
?/? c.575-42C>T r.(=) p.(=) g.48320719G>A Copied from the Exome Variant Server SLC38A5_000038 1/10555 1/6725 0/3830
?/? c.633+9C>T r.(=) p.(=) g.48320610G>A Copied from the Exome Variant Server SLC38A5_000037 1/10563 1/6728 0/3835
?/? c.633+18G>A r.(=) p.(=) g.48320601C>T Copied from the Exome Variant Server SLC38A5_000036 1/10563 1/6728 0/3835
?/? c.634-19C>T r.(=) p.(=) g.48320549G>A Copied from the Exome Variant Server SLC38A5_000035 1/10563 1/6728 0/3835
?/? c.703C>T r.(?) p.(Leu235Phe) g.48320461G>A Copied from the Exome Variant Server SLC38A5_000034 1/10563 0/6728 1/3835
?/? c.704T>C r.(?) p.(Leu235Pro) g.48320460A>G Copied from the Exome Variant Server SLC38A5_000033 2/10563 2/6728 0/3835
?/? c.705C>T r.(=) p.(=) g.48320459G>A Copied from the Exome Variant Server SLC38A5_000032 7/10563 2/6728 5/3835
?/? c.771+9G>T r.(=) p.(=) g.48320384C>A Copied from the Exome Variant Server SLC38A5_000030 1/10563 1/6728 0/3835
?/? c.771+31C>A r.(=) p.(=) g.48320362G>T Copied from the Exome Variant Server SLC38A5_000028 1/10563 1/6728 0/3835
?/? c.771+48G>A r.(=) p.(=) g.48320345C>T Copied from the Exome Variant Server SLC38A5_000026 3/10563 0/6728 3/3835
?/? c.772-4C>T r.spl? p.? g.48320187G>A Copied from the Exome Variant Server SLC38A5_000024 1/10563 1/6728 0/3835
?/? c.851+10C>G r.(=) p.(=) g.48320094G>C Copied from the Exome Variant Server SLC38A5_000022 6/10562 0/6727 6/3835
?/? c.852-10T>C r.(=) p.(=) g.48319482A>G Copied from the Exome Variant Server SLC38A5_000020 5/10563 5/6728 0/3835
?/? c.876C>T r.(=) p.(=) g.48319448G>A Copied from the Exome Variant Server SLC38A5_000031 1/10562 0/6727 1/3835
?/? c.886G>A r.(?) p.(Val296Met) g.48319438C>T Copied from the Exome Variant Server SLC38A5_000029 5/10562 0/6727 5/3835
?/? c.937T>C r.(?) p.(Tyr313His) g.48319387A>G Copied from the Exome Variant Server SLC38A5_000027 1/10562 1/6727 0/3835
?/? c.952+27G>T r.(=) p.(=) g.48319345C>A Copied from the Exome Variant Server SLC38A5_000025 3/10537 3/6713 0/3824
?/? c.952+30del r.(=) p.(=) g.48319342del Copied from the Exome Variant Server SLC38A5_000023 23/10100 15/6413 8/3687
?/? c.979A>T r.(?) p.(Met327Leu) g.48319124T>A Copied from the Exome Variant Server SLC38A5_000021 1/10563 1/6728 0/3835
?/? c.1002C>T r.(=) p.(=) g.48319101G>A Copied from the Exome Variant Server SLC38A5_000019 1/10563 1/6728 0/3835
?/? c.1005C>T r.(=) p.(=) g.48319098G>A Copied from the Exome Variant Server SLC38A5_000018 2/10563 0/6728 2/3835
?/? c.1023C>T r.(=) p.(=) g.48319080G>A Copied from the Exome Variant Server SLC38A5_000017 3/10563 0/6728 3/3835
?/? c.1035G>A r.(=) p.(=) g.48319068C>T Copied from the Exome Variant Server SLC38A5_000016 2/10563 0/6728 2/3835
?/? c.1041C>T r.(=) p.(=) g.48319062G>A Copied from the Exome Variant Server SLC38A5_000015 1/10563 1/6728 0/3835
?/? c.1068+15C>T r.(=) p.(=) g.48319020G>A Copied from the Exome Variant Server SLC38A5_000014 1/10558 0/6728 1/3830
?/? c.1068+16G>A r.(=) p.(=) g.48319019C>T Copied from the Exome Variant Server SLC38A5_000013 13/10555 1/6728 12/3827
?/? c.1069-50G>T r.(=) p.(=) g.48318312C>A Copied from the Exome Variant Server SLC38A5_000012 1/10562 1/6727 0/3835
?/? c.1069-28C>T r.(=) p.(=) g.48318290G>A Copied from the Exome Variant Server SLC38A5_000011 1/10562 1/6727 0/3835
?/? c.1069-21C>A r.(=) p.(=) g.48318283G>T Copied from the Exome Variant Server SLC38A5_000010 2/10562 2/6727 0/3835
?/? c.1075C>A r.(=) p.(=) g.48318256G>T Copied from the Exome Variant Server SLC38A5_000009 1/10563 1/6728 0/3835
?/? c.1213+13C>T r.(=) p.(=) g.48318105G>A Copied from the Exome Variant Server SLC38A5_000008 1/10563 0/6728 1/3835
?/? c.1214-36T>C r.(=) p.(=) g.48318061A>G Copied from the Exome Variant Server SLC38A5_000007 2/10563 0/6728 2/3835
?/? c.1284G>A r.(=) p.(=) g.48317955C>T Copied from the Exome Variant Server SLC38A5_000006 1/10562 1/6728 0/3834
?/? c.1317+16C>A r.(=) p.(=) g.48317906G>T Copied from the Exome Variant Server SLC38A5_000005 1/10550 0/6720 1/3830
?/? c.1352T>C r.(?) p.(Met451Thr) g.48317386A>G Copied from the Exome Variant Server SLC38A5_000004 624/10549 500/6718 124/3831
?/? c.1356C>G r.(=) p.(=) g.48317382G>C Copied from the Exome Variant Server SLC38A5_000003 1/10551 0/6720 1/3831
?/? c.*29C>T r.(=) p.(=) g.48317290G>A Copied from the Exome Variant Server SLC38A5_000002 5/10450 0/6643 5/3807
?/? c.*34G>A r.(=) p.(=) g.48317285C>T Copied from the Exome Variant Server SLC38A5_000001 6/10413 0/6619 6/3794
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