Unique variants in gene PJA1

Information The variants shown are described using the NM_145119.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-18C>T r.(=) p.(=) g.68383099G>A Copied from the Exome Variant Server PJA1_000057 1/10563 1/6728 0/3835
1 c.21G>A r.(=) p.(=) g.68383061C>T Copied from the Exome Variant Server PJA1_000056 2/10563 1/6728 1/3835
1 c.47G>A r.(?) p.(Gly16Glu) g.68383035C>T Copied from the Exome Variant Server PJA1_000055 1/10563 1/6728 0/3835
1 c.149C>T r.(?) p.(Thr50Met) g.68382933G>A Copied from the Exome Variant Server PJA1_000054 1/10563 1/6728 0/3835
1 c.156C>T r.(=) p.(=) g.68382926G>A Copied from the Exome Variant Server PJA1_000053 1/10563 1/6728 0/3835
1 c.246C>T r.(=) p.(=) g.68382836G>A Copied from the Exome Variant Server PJA1_000052 1920/10563 1593/6728 327/3835
1 c.247G>A r.(?) p.(Glu83Lys) g.68382835C>T Copied from the Exome Variant Server PJA1_000051 1/10563 0/6728 1/3835
1 c.297T>C r.(=) p.(=) g.68382785A>G Copied from the Exome Variant Server PJA1_000050 2/10563 1/6728 1/3835
1 c.299C>T r.(?) p.(Pro100Leu) g.68382783G>A Copied from the Exome Variant Server PJA1_000049 1/10563 1/6728 0/3835
1 c.309G>C r.(?) p.(Glu103Asp) g.68382773C>G Copied from the Exome Variant Server PJA1_000048 3/10563 2/6728 1/3835
1 c.321G>A r.(=) p.(=) g.68382761C>T Copied from the Exome Variant Server PJA1_000047 14/10563 14/6728 0/3835
1 c.416T>C r.(?) p.(Val139Ala) g.68382666A>G Copied from the Exome Variant Server PJA1_000046 14/10563 0/6728 14/3835
1 c.516C>T r.(=) p.(=) g.68382566G>A Copied from the Exome Variant Server PJA1_000045 1/10563 0/6728 1/3835
1 c.530A>C r.(?) p.(Glu177Ala) g.68382552T>G Copied from the Exome Variant Server PJA1_000044 3/10563 3/6728 0/3835
1 c.539A>C r.(?) p.(Asp180Ala) g.68382543T>G Copied from the Exome Variant Server PJA1_000043 1/10563 1/6728 0/3835
1 c.553G>T r.(?) p.(Val185Phe) g.68382529C>A Copied from the Exome Variant Server PJA1_000042 1/10562 1/6728 0/3834
1 c.554T>A r.(?) p.(Val185Asp) g.68382528A>T Copied from the Exome Variant Server PJA1_000041 1/10562 0/6728 1/3834
1 c.578G>A r.(?) p.(Ser193Asn) g.68382504C>T Copied from the Exome Variant Server PJA1_000040 1/10562 0/6728 1/3834
1 c.660G>A r.(=) p.(=) g.68382422C>T Copied from the Exome Variant Server PJA1_000039 5/10563 4/6728 1/3835
1 c.781A>G r.(?) p.(Arg261Gly) g.68382301T>C Copied from the Exome Variant Server PJA1_000038 1/10563 1/6728 0/3835
1 c.840T>C r.(=) p.(=) g.68382242A>G Copied from the Exome Variant Server PJA1_000037 67/10563 0/6728 67/3835
1 c.843C>T r.(=) p.(=) g.68382239G>A Copied from the Exome Variant Server PJA1_000036 1/10563 1/6728 0/3835
1 c.850C>T r.(?) p.(Pro284Ser) g.68382232G>A Copied from the Exome Variant Server PJA1_000035 1/10563 0/6728 1/3835
1 c.883A>G r.(?) p.(Asn295Asp) g.68382199T>C Copied from the Exome Variant Server PJA1_000034 1/10563 0/6728 1/3835
1 c.885T>C r.(=) p.(=) g.68382197A>G Copied from the Exome Variant Server PJA1_000033 1/10563 0/6728 1/3835
1 c.894G>C r.(?) p.(Glu298Asp) g.68382188C>G Copied from the Exome Variant Server PJA1_000032 1/10563 0/6728 1/3835
1 c.951C>T r.(=) p.(=) g.68382131G>A Copied from the Exome Variant Server PJA1_000031 1/10563 1/6728 0/3835
1 c.1028G>A r.(?) p.(Arg343His) g.68382054C>T Copied from the Exome Variant Server PJA1_000030 1/10563 0/6728 1/3835
1 c.1086C>T r.(=) p.(=) g.68381996G>A Copied from the Exome Variant Server PJA1_000029 1/10563 0/6728 1/3835
1 c.1165A>G r.(?) p.(Ser389Gly) g.68381917T>C Copied from the Exome Variant Server PJA1_000028 3/10562 0/6727 3/3835
1 c.1170C>T r.(=) p.(=) g.68381912G>A Copied from the Exome Variant Server PJA1_000027 1539/10562 1134/6727 405/3835
1 c.1199A>T r.(?) p.(Glu400Val) g.68381883T>A Copied from the Exome Variant Server PJA1_000026 1/10563 1/6728 0/3835
1 c.1205G>A r.(?) p.(Arg402Gln) g.68381877C>T Copied from the Exome Variant Server PJA1_000025 12/10563 0/6728 12/3835
1 c.1256C>T r.(?) p.(Pro419Leu) g.68381826G>A Copied from the Exome Variant Server PJA1_000024 1/10524 1/6695 0/3829
1 c.1257C>T r.(=) p.(=) g.68381825G>A Copied from the Exome Variant Server PJA1_000023 5/10521 1/6692 4/3829
1 c.1275_1276insAGTGCC r.(?) p.(Ser424_Ala425dup) g.68381806_68381807insGGCACT Copied from the Exome Variant Server PJA1_000022 2/10005 2/6339 0/3666
1 c.1285G>A r.(?) p.(Ala429Thr) g.68381797C>T Copied from the Exome Variant Server PJA1_000021 100/10520 91/6692 9/3828
1 c.1287C>T r.(=) p.(=) g.68381795G>A Copied from the Exome Variant Server PJA1_000020 3/10521 0/6693 3/3828
1 c.1295G>A r.(?) p.(Ser432Asn) g.68381787C>T Copied from the Exome Variant Server PJA1_000019 1916/10547 1589/6718 327/3829
1 c.1310G>C r.(?) p.(Gly437Ala) g.68381772C>G Copied from the Exome Variant Server PJA1_000018 3/10562 0/6727 3/3835
1 c.1318T>G r.(?) p.(Tyr440Asp) g.68381764A>C Copied from the Exome Variant Server PJA1_000017 1/10563 0/6728 1/3835
1 c.1336G>A r.(?) p.(Glu446Lys) g.68381746C>T Copied from the Exome Variant Server PJA1_000016 1/10563 1/6728 0/3835
1 c.1353A>G r.(=) p.(=) g.68381729T>C Copied from the Exome Variant Server PJA1_000015 10/10563 10/6728 0/3835
1 c.1395G>A r.(=) p.(=) g.68381687C>T Copied from the Exome Variant Server PJA1_000014 1/10563 0/6728 1/3835
1 c.1425G>A r.(=) p.(=) g.68381657C>T Copied from the Exome Variant Server PJA1_000013 4/10563 3/6728 1/3835
1 c.1436C>T r.(?) p.(Ser479Phe) g.68381646G>A Copied from the Exome Variant Server PJA1_000012 1/10563 1/6728 0/3835
1 c.1441C>G r.(?) p.(His481Asp) g.68381641G>C Copied from the Exome Variant Server PJA1_000011 1/10563 1/6728 0/3835
1 c.1443C>G r.(?) p.(His481Gln) g.68381639G>C Copied from the Exome Variant Server PJA1_000010 1/10563 0/6728 1/3835
1 c.1449G>T r.(?) p.(Leu483Phe) g.68381633C>A Copied from the Exome Variant Server PJA1_000009 1/10563 1/6728 0/3835
1 c.1517A>T r.(?) p.(Asp506Val) g.68381565T>A Copied from the Exome Variant Server PJA1_000008 1/10563 1/6728 0/3835
1 c.1521A>T r.(=) p.(=) g.68381561T>A Copied from the Exome Variant Server PJA1_000007 1/10563 1/6728 0/3835
1 c.1546G>C r.(?) p.(Gly516Arg) g.68381536C>G Copied from the Exome Variant Server PJA1_000006 1/10563 0/6728 1/3835
1 c.1659G>A r.(=) p.(=) g.68381423C>T Copied from the Exome Variant Server PJA1_000005 1/10563 1/6728 0/3835
1 c.1818G>T r.(?) p.(Glu606Asp) g.68381264C>A Copied from the Exome Variant Server PJA1_000004 1742/10563 1594/6728 148/3835
1 c.1836G>A r.(=) p.(=) g.68381246C>T Copied from the Exome Variant Server PJA1_000003 1/10563 1/6728 0/3835
1 c.1893C>G r.(=) p.(=) g.68381189G>C Copied from the Exome Variant Server PJA1_000002 1/10563 1/6728 0/3835
1 c.1917C>G r.(?) p.(Phe639Leu) g.68381165G>C Copied from the Exome Variant Server PJA1_000001 45/10563 39/6728 6/3835
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