Full data view for gene MAMLD1

Information The variants shown are described using the NM_005491.3 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-49C>T r.(=) p.(=) g.149613734C>T Copied from the Exome Variant Server MAMLD1_000027 2/9686 2/6435 0/3251 - - - - - - -
?/? c.57G>A r.(?) p.(Met19Ile) g.149613839G>A Copied from the Exome Variant Server MAMLD1_000028 2/9567 2/6395 0/3172 - - - - - - -
?/? c.68G>A r.(?) p.(Arg23His) g.149613850G>A Copied from the Exome Variant Server MAMLD1_000029 1/9574 1/6390 0/3184 - - - - - - -
?/? c.96G>A r.(=) p.(=) g.149613878G>A Copied from the Exome Variant Server MAMLD1_000030 1/9552 0/6390 1/3162 - - - - - - -
?/? c.96+31T>C r.(=) p.(=) g.149613909T>C Copied from the Exome Variant Server MAMLD1_000031 1/9572 1/6396 0/3176 - - - - - - -
?/? c.156A>G r.(=) p.(=) g.149631097A>G Copied from the Exome Variant Server MAMLD1_000032 162/9661 1/6445 161/3216 - - - - - - -
?/? c.160A>C r.(=) p.(=) g.149631101A>C Copied from the Exome Variant Server MAMLD1_000033 1/9667 1/6443 0/3224 - - - - - - -
?/? c.166C>T r.(?) p.(His56Tyr) g.149631107C>T Copied from the Exome Variant Server MAMLD1_000081 2/9675 0/6449 2/3226 - - - - - - -
?/? c.171+6_171+7insATA r.(=) p.(=) g.149631118_149631119insATA Copied from the Exome Variant Server MAMLD1_000075 1/9296 0/6188 1/3108 - - - - - - -
?/? c.171+61C>T r.(=) p.(=) g.149631173C>T Copied from the Exome Variant Server MAMLD1_000076 105/3600 0/2391 105/1209 - - - - - - -
?/? c.172-33C>T r.(=) p.(=) g.149637984C>T Copied from the Exome Variant Server MAMLD1_000077 12/10506 0/6703 12/3803 - - - - - - -
?/? c.172-25C>T r.(=) p.(=) g.149637992C>T Copied from the Exome Variant Server MAMLD1_000078 1/10527 0/6711 1/3816 - - - - - - -
?/? c.209A>G r.(?) p.(Gln70Arg) g.149638054A>G Copied from the Exome Variant Server MAMLD1_000079 2/10563 1/6728 1/3835 - - - - - - -
?/? c.270T>C r.(=) p.(=) g.149638115T>C Copied from the Exome Variant Server MAMLD1_000080 5/10563 5/6728 0/3835 - - - - - - -
?/? c.277C>T r.(?) p.(Leu93Phe) g.149638122C>T Copied from the Exome Variant Server MAMLD1_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.302C>T r.(?) p.(Pro101Leu) g.149638147C>T Copied from the Exome Variant Server MAMLD1_000059 1/10563 1/6728 0/3835 - - - - - - -
?/? c.361G>A r.(?) p.(Ala121Thr) g.149638206G>A Copied from the Exome Variant Server MAMLD1_000060 2/10563 2/6728 0/3835 - - - - - - -
?/? c.451A>G r.(?) p.(Thr151Ala) g.149638296A>G Copied from the Exome Variant Server MAMLD1_000061 3/10563 3/6728 0/3835 - - - - - - -
?/? c.509C>T r.(?) p.(Pro170Leu) g.149638354C>T Copied from the Exome Variant Server MAMLD1_000062 2/10563 0/6728 2/3835 - - - - - - -
?/? c.605C>T r.(?) p.(Thr202Met) g.149638450C>T Copied from the Exome Variant Server MAMLD1_000063 7/10563 7/6728 0/3835 - - - - - - -
?/? c.734A>G r.(?) p.(Gln245Arg) g.149638579A>G Copied from the Exome Variant Server MAMLD1_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.740C>T r.(?) p.(Thr247Ile) g.149638585C>T Copied from the Exome Variant Server MAMLD1_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.747G>C r.(?) p.(Met249Ile) g.149638592G>C Copied from the Exome Variant Server MAMLD1_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.789G>A r.(=) p.(=) g.149638634G>A Copied from the Exome Variant Server MAMLD1_000067 1/10563 0/6728 1/3835 - - - - - - -
?/? c.859G>A r.(?) p.(Ala287Thr) g.149638704G>A Copied from the Exome Variant Server MAMLD1_000068 1/10563 0/6728 1/3835 - - - - - - -
?/? c.873C>T r.(=) p.(=) g.149638718C>T Copied from the Exome Variant Server MAMLD1_000069 9/10563 0/6728 9/3835 - - - - - - -
?/? c.912C>A r.(=) p.(=) g.149638757C>A Copied from the Exome Variant Server MAMLD1_000070 2/10563 1/6728 1/3835 - - - - - - -
?/? c.926C>T r.(?) p.(Ala309Val) g.149638771C>T Copied from the Exome Variant Server MAMLD1_000071 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1038A>T r.(=) p.(=) g.149638883A>T Copied from the Exome Variant Server MAMLD1_000072 11/10563 11/6728 0/3835 - - - - - - -
?/? c.1041C>A r.(?) p.(His347Gln) g.149638886C>A Copied from the Exome Variant Server MAMLD1_000073 222/10563 0/6728 222/3835 - - - - - - -
?/? c.1069C>T r.(?) p.(Pro357Ser) g.149638914C>T Copied from the Exome Variant Server MAMLD1_000074 1/10562 1/6728 0/3834 - - - - - - -
?/? c.1075C>T r.(?) p.(Pro359Ser) g.149638920C>T Copied from the Exome Variant Server MAMLD1_000034 914/10562 846/6728 68/3834 - - - - - - -
?/? c.1127C>T r.(?) p.(Ser376Leu) g.149638972C>T Copied from the Exome Variant Server MAMLD1_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1151C>T r.(?) p.(Pro384Leu) g.149638996C>T Copied from the Exome Variant Server MAMLD1_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1169G>A r.(?) p.(Ser390Asn) g.149639014G>A Copied from the Exome Variant Server MAMLD1_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1203C>T r.(=) p.(=) g.149639048C>T Copied from the Exome Variant Server MAMLD1_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1271A>G r.(?) p.(Gln424Arg) g.149639116A>G Copied from the Exome Variant Server MAMLD1_000039 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1291C>T r.(?) p.(Leu431Phe) g.149639136C>T Copied from the Exome Variant Server MAMLD1_000040 18/10563 1/6728 17/3835 - - - - - - -
?/? c.1302T>A r.(=) p.(=) g.149639147T>A Copied from the Exome Variant Server MAMLD1_000041 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1320A>G r.(=) p.(=) g.149639165A>G Copied from the Exome Variant Server MAMLD1_000042 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1332G>A r.(?) p.(Met444Ile) g.149639177G>A Copied from the Exome Variant Server MAMLD1_000043 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1339C>T r.(=) p.(=) g.149639184C>T Copied from the Exome Variant Server MAMLD1_000044 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1380A>G r.(=) p.(=) g.149639225A>G Copied from the Exome Variant Server MAMLD1_000045 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1431T>C r.(=) p.(=) g.149639276T>C Copied from the Exome Variant Server MAMLD1_000046 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1469T>A r.(?) p.(Leu490Gln) g.149639314T>A Copied from the Exome Variant Server MAMLD1_000047 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1482G>T r.(?) p.(Gln494His) g.149639327G>T Copied from the Exome Variant Server MAMLD1_000048 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1508C>A r.(?) p.(Ala503Glu) g.149639353C>A Copied from the Exome Variant Server MAMLD1_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1514T>C r.(?) p.(Val505Ala) g.149639359T>C Copied from the Exome Variant Server MAMLD1_000050 636/10563 5/6728 631/3835 - - - - - - -
?/? c.1556G>A r.(?) p.(Ser519Asn) g.149639401G>A Copied from the Exome Variant Server MAMLD1_000051 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1557C>T r.(=) p.(=) g.149639402C>T Copied from the Exome Variant Server MAMLD1_000002 4/10563 4/6728 0/3835 - - - - - - -
?/? c.1573G>C r.(?) p.(Gly525Arg) g.149639418G>C Copied from the Exome Variant Server MAMLD1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1617T>A r.(?) p.(Phe539Leu) g.149639462T>A Copied from the Exome Variant Server MAMLD1_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1710C>G r.(=) p.(=) g.149639555C>G Copied from the Exome Variant Server MAMLD1_000005 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1728G>A r.(=) p.(=) g.149639573G>A Copied from the Exome Variant Server MAMLD1_000006 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1767G>A r.(=) p.(=) g.149639612G>A Copied from the Exome Variant Server MAMLD1_000007 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1797G>A r.(=) p.(=) g.149639642G>A Copied from the Exome Variant Server MAMLD1_000008 5/10563 4/6728 1/3835 - - - - - - -
?/? c.1797_1798insCAGCAGCAA r.(?) p.(Gln604_Gln606dup) g.149639642_149639643insCAGCAGCAA Copied from the Exome Variant Server MAMLD1_000009 48/10203 43/6484 5/3719 - - - - - - -
?/? c.1804C>A r.(?) p.(Gln602Lys) g.149639649C>A Copied from the Exome Variant Server MAMLD1_000010 12/10563 12/6728 0/3835 - - - - - - -
?/? c.1808A>G r.(?) p.(Gln603Arg) g.149639653A>G Copied from the Exome Variant Server MAMLD1_000011 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1834T>C r.(?) p.(Phe612Leu) g.149639679T>C Copied from the Exome Variant Server MAMLD1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1867C>T r.(?) p.(Arg623Cys) g.149639712C>T Copied from the Exome Variant Server MAMLD1_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1868G>A r.(?) p.(Arg623His) g.149639713G>A Copied from the Exome Variant Server MAMLD1_000014 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1885G>A r.(?) p.(Ala629Thr) g.149639730G>A Copied from the Exome Variant Server MAMLD1_000015 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1918-48G>A r.(=) p.(=) g.149641904G>A Copied from the Exome Variant Server MAMLD1_000016 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1959G>A r.(=) p.(=) g.149641993G>A Copied from the Exome Variant Server MAMLD1_000017 3/10563 1/6728 2/3835 - - - - - - -
?/? c.1985A>G r.(?) p.(Asn662Ser) g.149642019A>G Copied from the Exome Variant Server MAMLD1_000018 1091/10563 976/6728 115/3835 - - - - - - -
?/? c.2031G>A r.(=) p.(=) g.149642065G>A Copied from the Exome Variant Server MAMLD1_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2041-19G>C r.(=) p.(=) g.149671525G>C Copied from the Exome Variant Server MAMLD1_000020 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2100G>A r.(=) p.(=) g.149671603G>A Copied from the Exome Variant Server MAMLD1_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2111C>T r.(?) p.(Pro704Leu) g.149671614C>T Copied from the Exome Variant Server MAMLD1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2112G>A r.(=) p.(=) g.149671615G>A Copied from the Exome Variant Server MAMLD1_000023 2/10563 2/6728 0/3835 - - - - - - -
?/? c.2179G>A r.(?) p.(Val727Ile) g.149671682G>A Copied from the Exome Variant Server MAMLD1_000024 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2220C>A r.(=) p.(=) g.149671723C>A Copied from the Exome Variant Server MAMLD1_000025 33/10561 31/6726 2/3835 - - - - - - -
?/? c.2248G>A r.(?) p.(Val750Met) g.149671751G>A Copied from the Exome Variant Server MAMLD1_000026 1/10556 1/6723 0/3833 - - - - - - -
?/? c.2253C>T r.(=) p.(=) g.149671756C>T Copied from the Exome Variant Server MAMLD1_000052 4/10554 2/6722 2/3832 - - - - - - -
?/? c.2277C>T r.(=) p.(=) g.149671780C>T Copied from the Exome Variant Server MAMLD1_000053 2/10527 0/6706 2/3821 - - - - - - -
?/? c.2284+8A>T r.(=) p.(=) g.149671795A>T Copied from the Exome Variant Server MAMLD1_000054 93/10477 0/6672 93/3805 - - - - - - -
?/? c.2285-6G>C r.(=) p.(=) g.149678226G>C Copied from the Exome Variant Server MAMLD1_000055 7/10563 0/6728 7/3835 - - - - - - -
?/? c.*2C>T r.(=) p.(=) g.149678274C>T Copied from the Exome Variant Server MAMLD1_000056 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*10T>C r.(=) p.(=) g.149678282T>C Copied from the Exome Variant Server MAMLD1_000057 2/10563 0/6728 2/3835 - - - - - - -
?/? c.*15A>G r.(=) p.(=) g.149678287A>G Copied from the Exome Variant Server MAMLD1_000001 1/10563 1/6728 0/3835 - - - - - - -
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