Unique variants in gene SLC24A5

Information The variants shown are described using the NM_205850.2 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.-49C>T r.(=) p.(=) g.48413193C>T Copied from the Exome Variant Server SLC24A5_000001 1/12990 1/8594 0/4396
1 c.28G>C r.(?) p.(Ala10Pro) g.48413269G>C Copied from the Exome Variant Server SLC24A5_000002 6/12990 0/8594 6/4396
1 c.49G>C r.(?) p.(Gly17Arg) g.48413290G>C Copied from the Exome Variant Server SLC24A5_000003 1/12990 1/8594 0/4396
1 c.55C>A r.(?) p.(Leu19Met) g.48413296C>A Copied from the Exome Variant Server SLC24A5_000004 4/12990 0/8594 4/4396
1 c.76C>T r.(?) p.(Pro26Ser) g.48413317C>T Copied from the Exome Variant Server SLC24A5_000005 1/12990 1/8594 0/4396
1 c.92C>T r.(?) p.(Ser31Phe) g.48413333C>T Copied from the Exome Variant Server SLC24A5_000006 2/12990 0/8594 2/4396
1 c.102A>G r.(=) p.(=) g.48413343A>G Copied from the Exome Variant Server SLC24A5_000007 1/12990 0/8594 1/4396
1 c.121+28C>A r.(=) p.(=) g.48413390C>A Copied from the Exome Variant Server SLC24A5_000008 1/12988 0/8592 1/4396
1 c.121+41T>A r.(=) p.(=) g.48413403T>A Copied from the Exome Variant Server SLC24A5_000009 56/12986 0/8590 56/4396
1 c.128G>A r.(?) p.(Ser43Asn) g.48414060G>A Copied from the Exome Variant Server SLC24A5_000010 1/12990 1/8594 0/4396
1 c.131C>T r.(?) p.(Thr44Ile) g.48414063C>T Copied from the Exome Variant Server SLC24A5_000011 1/12990 1/8594 0/4396
1 c.184C>G r.(?) p.(Gln62Glu) g.48414116C>G Copied from the Exome Variant Server SLC24A5_000012 1/12990 1/8594 0/4396
1 c.216T>G r.(?) p.(Tyr72*) g.48414148T>G Copied from the Exome Variant Server SLC24A5_000013 1/12990 1/8594 0/4396
1 c.266A>C r.(?) p.(Glu89Ala) g.48414198A>C Copied from the Exome Variant Server SLC24A5_000014 1/12990 1/8594 0/4396
1 c.276A>G r.(=) p.(=) g.48414208A>G Copied from the Exome Variant Server SLC24A5_000015 12/12990 0/8594 12/4396
1 c.296G>A r.(?) p.(Ser99Asn) g.48414228G>A Copied from the Exome Variant Server SLC24A5_000016 1/12990 1/8594 0/4396
1 c.301+5G>C r.spl? p.? g.48414238G>C Copied from the Exome Variant Server SLC24A5_000017 1/12990 0/8594 1/4396
1 c.302-26A>C r.(=) p.(=) g.48426429A>C Copied from the Exome Variant Server SLC24A5_000018 2/12988 0/8592 2/4396
1 c.331A>G r.(?) p.(Thr111Ala) g.48426484A>G Copied from the Exome Variant Server SLC24A5_000019 3430/12990 42/8594 3388/4396
1 c.375T>C r.(=) p.(=) g.48426528T>C Copied from the Exome Variant Server SLC24A5_000020 1/12990 0/8594 1/4396
1 c.386-26C>G r.(=) p.(=) g.48426606C>G Copied from the Exome Variant Server SLC24A5_000021 3/12990 0/8594 3/4396
1 c.388G>A r.(?) p.(Val130Ile) g.48426634G>A Copied from the Exome Variant Server SLC24A5_000022 1/12988 0/8592 1/4396
1 c.443A>T r.(?) p.(Tyr148Phe) g.48426689A>T Copied from the Exome Variant Server SLC24A5_000023 1/12988 1/8592 0/4396
1 c.445A>G r.(?) p.(Asn149Asp) g.48426691A>G Copied from the Exome Variant Server SLC24A5_000024 1/12988 0/8592 1/4396
1 c.448C>G r.(?) p.(Leu150Val) g.48426694C>G Copied from the Exome Variant Server SLC24A5_000025 1/12988 0/8592 1/4396
1 c.456C>T r.(=) p.(=) g.48426702C>T Copied from the Exome Variant Server SLC24A5_000026 1/12988 1/8592 0/4396
1 c.505T>C r.(?) p.(Cys169Arg) g.48427096T>C Copied from the Exome Variant Server SLC24A5_000027 1/12988 1/8592 0/4396
1 c.534G>A r.(=) p.(=) g.48427125G>A Copied from the Exome Variant Server SLC24A5_000028 1/12988 1/8592 0/4396
1 c.561T>C r.(=) p.(=) g.48427152T>C Copied from the Exome Variant Server SLC24A5_000029 1/12986 1/8590 0/4396
1 c.590+23T>C r.(=) p.(=) g.48427204T>C Copied from the Exome Variant Server SLC24A5_000030 12/12976 0/8584 12/4392
1 c.590+30A>C r.(=) p.(=) g.48427211A>C Copied from the Exome Variant Server SLC24A5_000031 11/12958 0/8570 11/4388
1 c.591-9C>A r.(=) p.(=) g.48428871C>A Copied from the Exome Variant Server SLC24A5_000032 1/12988 1/8594 0/4394
1 c.600G>A r.(=) p.(=) g.48428889G>A Copied from the Exome Variant Server SLC24A5_000033 8/12988 0/8594 8/4394
1 c.648T>C r.(=) p.(=) g.48428937T>C Copied from the Exome Variant Server SLC24A5_000034 1/12990 1/8594 0/4396
1 c.667T>C r.(?) p.(Tyr223His) g.48428956T>C Copied from the Exome Variant Server SLC24A5_000035 1/12990 1/8594 0/4396
1 c.685A>C r.(?) p.(Ser229Arg) g.48428974A>C Copied from the Exome Variant Server SLC24A5_000036 1/12990 0/8594 1/4396
1 c.696C>T r.(=) p.(=) g.48428985C>T Copied from the Exome Variant Server SLC24A5_000037 3/12990 0/8594 3/4396
1 c.707C>G r.(?) p.(Ala236Gly) g.48428996C>G Copied from the Exome Variant Server SLC24A5_000038 2/12990 0/8594 2/4396
1 c.728_730del r.(?) p.(Gln245del) g.48429017_48429019del Copied from the Exome Variant Server SLC24A5_000039 21/12518 6/8254 15/4264
1 c.737C>T r.(?) p.(Pro246Leu) g.48429026C>T Copied from the Exome Variant Server SLC24A5_000040 1/12990 0/8594 1/4396
1 c.745G>C r.(?) p.(Gly249Arg) g.48429034G>C Copied from the Exome Variant Server SLC24A5_000041 3/12990 0/8594 3/4396
1 c.769T>C r.(?) p.(Phe257Leu) g.48429058T>C Copied from the Exome Variant Server SLC24A5_000042 1/12990 0/8594 1/4396
1 c.773T>G r.(?) p.(Ile258Ser) g.48429062T>G Copied from the Exome Variant Server SLC24A5_000043 1/12988 0/8594 1/4394
1 c.775C>T r.(?) p.(Arg259Cys) g.48429064C>T Copied from the Exome Variant Server SLC24A5_000044 12/12988 0/8594 12/4394
1 c.793G>C r.(?) p.(Asp265His) g.48429082G>C Copied from the Exome Variant Server SLC24A5_000045 1/12988 1/8594 0/4394
1 c.829C>G r.(?) p.(Gln277Glu) g.48429118C>G Copied from the Exome Variant Server SLC24A5_000046 12/12990 0/8594 12/4396
1 c.861G>C r.(?) p.(Gln287His) g.48429150G>C Copied from the Exome Variant Server SLC24A5_000047 1/12990 1/8594 0/4396
1 c.871+48A>T r.(=) p.(=) g.48429208A>T Copied from the Exome Variant Server SLC24A5_000048 2/12952 0/8568 2/4384
1 c.872-48del r.(=) p.(=) g.48431118del Copied from the Exome Variant Server SLC24A5_000049 4/12486 3/8232 1/4254
1 c.872-3C>T r.spl? p.? g.48431163C>T Copied from the Exome Variant Server SLC24A5_000051 3/12984 0/8588 3/4396
1 c.922T>G r.(?) p.(Trp308Gly) g.48431216T>G Copied from the Exome Variant Server SLC24A5_000050 1/12974 0/8580 1/4394
1 c.932C>G r.(?) p.(Ser311Cys) g.48431226C>G Copied from the Exome Variant Server SLC24A5_000052 1/12978 0/8584 1/4394
1 c.944T>C r.(?) p.(Ile315Thr) g.48431238T>C Copied from the Exome Variant Server SLC24A5_000053 1/12974 1/8580 0/4394
1 c.947C>T r.(?) p.(Thr316Ile) g.48431241C>T Copied from the Exome Variant Server SLC24A5_000054 1/12976 0/8582 1/4394
1 c.957T>C r.(=) p.(=) g.48431251T>C Copied from the Exome Variant Server SLC24A5_000055 1/12978 0/8584 1/4394
1 c.1038C>T r.(=) p.(=) g.48431332C>T Copied from the Exome Variant Server SLC24A5_000056 1/12976 1/8580 0/4396
1 c.1039G>A r.(?) p.(Ala347Thr) g.48431333G>A Copied from the Exome Variant Server SLC24A5_000057 2/12976 2/8580 0/4396
1 c.1078+43A>G r.(=) p.(=) g.48431415A>G Copied from the Exome Variant Server SLC24A5_000058 1/12962 0/8568 1/4394
1 c.1079-4A>T r.spl? p.? g.48433306A>T Copied from the Exome Variant Server MYEF2_000001 139/12990 120/8594 19/4396
1 c.1096C>A r.(?) p.(Pro366Thr) g.48433327C>A Copied from the Exome Variant Server MYEF2_000002 3/12990 3/8594 0/4396
1 c.1098C>T r.(=) p.(=) g.48433329C>T Copied from the Exome Variant Server MYEF2_000003 1/12990 1/8594 0/4396
1 c.1121T>C r.(?) p.(Leu374Ser) g.48433352T>C Copied from the Exome Variant Server MYEF2_000004 1/12990 0/8594 1/4396
1 c.1141A>C r.(?) p.(Ile381Leu) g.48433372A>C Copied from the Exome Variant Server MYEF2_000005 2/12990 2/8594 0/4396
1 c.1160G>C r.(?) p.(Ser387Thr) g.48433391G>C Copied from the Exome Variant Server MYEF2_000006 2/12990 2/8594 0/4396
1 c.1171G>A r.(?) p.(Ala391Thr) g.48433402G>A Copied from the Exome Variant Server MYEF2_000007 1/12990 0/8594 1/4396
1 c.1180+33A>T r.(=) p.(=) g.48433444A>T Copied from the Exome Variant Server MYEF2_000008 4/12990 3/8594 1/4396
1 c.1180+36C>T r.(=) p.(=) g.48433447C>T Copied from the Exome Variant Server MYEF2_000009 1/12990 1/8594 0/4396
1 c.1184A>G r.(?) p.(Lys395Arg) g.48434229A>G Copied from the Exome Variant Server MYEF2_000010 2/12990 0/8594 2/4396
1 c.1218C>T r.(=) p.(=) g.48434263C>T Copied from the Exome Variant Server MYEF2_000011 1/12990 1/8594 0/4396
1 c.1220A>G r.(?) p.(Asn407Ser) g.48434265A>G Copied from the Exome Variant Server MYEF2_000012 1/12990 0/8594 1/4396
1 c.1229A>G r.(?) p.(Asp410Gly) g.48434274A>G Copied from the Exome Variant Server MYEF2_000013 1/12990 1/8594 0/4396
1 c.1285G>T r.(?) p.(Ala429Ser) g.48434330G>T Copied from the Exome Variant Server MYEF2_000014 1/12990 0/8594 1/4396
1 c.1305C>G r.(?) p.(Ser435Arg) g.48434350C>G Copied from the Exome Variant Server MYEF2_000015 1/12990 1/8594 0/4396
1 c.1361T>A r.(?) p.(Leu454*) g.48434406T>A Copied from the Exome Variant Server MYEF2_000016 1/12990 1/8594 0/4396
1 c.1393_1394del r.(?) p.(Arg465Lysfs*21) g.48434438_48434439del Copied from the Exome Variant Server MYEF2_000017 1/12516 0/8252 1/4264
1 c.1395A>G r.(=) p.(=) g.48434440A>G Copied from the Exome Variant Server MYEF2_000018 1/12990 1/8594 0/4396
1 c.1406T>C r.(?) p.(Ile469Thr) g.48434451T>C Copied from the Exome Variant Server MYEF2_000019 1/12990 0/8594 1/4396
1 c.1432C>A r.(?) p.(Leu478Ile) g.48434477C>A Copied from the Exome Variant Server MYEF2_000020 1/12990 0/8594 1/4396
1 c.1442T>C r.(?) p.(Leu481Ser) g.48434487T>C Copied from the Exome Variant Server MYEF2_000021 15/12988 1/8592 14/4396
1 c.*2A>G r.(=) p.(=) g.48434550A>G Copied from the Exome Variant Server MYEF2_000022 1/12972 0/8580 1/4392
1 c.*6T>C r.(=) p.(=) g.48434554T>C Copied from the Exome Variant Server MYEF2_000023 1/12960 1/8574 0/4386
1 c.*12G>C r.(=) p.(=) g.48434560G>C Copied from the Exome Variant Server MYEF2_000024 4/12928 4/8562 0/4366
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