Full data view for gene SHROOM2

Information The variants shown are described using the NM_001649.2 transcript reference sequence.

238 entries on 3 pages. Showing entries 1 - 100.
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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.166-49A>C r.(=) p.(=) g.9841643A>C Copied from the Exome Variant Server SHROOM2_000001 1/10563 1/6728 0/3835 - - - - - - -
?/? c.166-35G>A r.(=) p.(=) g.9841657G>A Copied from the Exome Variant Server SHROOM2_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.186C>T r.(=) p.(=) g.9841712C>T Copied from the Exome Variant Server SHROOM2_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.192G>A r.(=) p.(=) g.9841718G>A Copied from the Exome Variant Server SHROOM2_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.195C>T r.(=) p.(=) g.9841721C>T Copied from the Exome Variant Server SHROOM2_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.197A>T r.(?) p.(Asp66Val) g.9841723A>T Copied from the Exome Variant Server SHROOM2_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.208G>T r.(?) p.(Ala70Ser) g.9841734G>T Copied from the Exome Variant Server SHROOM2_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.223G>A r.(?) p.(Val75Ile) g.9841749G>A Copied from the Exome Variant Server SHROOM2_000008 2/10563 2/6728 0/3835 - - - - - - -
?/? c.267G>A r.(=) p.(=) g.9841793G>A Copied from the Exome Variant Server SHROOM2_000009 2/10563 2/6728 0/3835 - - - - - - -
?/? c.309C>T r.(=) p.(=) g.9841835C>T Copied from the Exome Variant Server SHROOM2_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.317+10G>A r.(=) p.(=) g.9841853G>A Copied from the Exome Variant Server SHROOM2_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.317+26T>A r.(=) p.(=) g.9841869T>A Copied from the Exome Variant Server SHROOM2_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.317+31A>G r.(=) p.(=) g.9841874A>G Copied from the Exome Variant Server SHROOM2_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.318-47G>A r.(=) p.(=) g.9858970G>A Copied from the Exome Variant Server SHROOM2_000014 1/10518 0/6697 1/3821 - - - - - - -
?/? c.318-40G>A r.(=) p.(=) g.9858977G>A Copied from the Exome Variant Server SHROOM2_000015 1/10527 1/6702 0/3825 - - - - - - -
?/? c.318-12G>A r.(=) p.(=) g.9859005G>A Copied from the Exome Variant Server SHROOM2_000016 1/10555 1/6724 0/3831 - - - - - - -
?/? c.341C>T r.(?) p.(Pro114Leu) g.9859040C>T Copied from the Exome Variant Server SHROOM2_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.9859056C>T Copied from the Exome Variant Server SHROOM2_000018 1/10559 0/6726 1/3833 - - - - - - -
?/? c.399A>G r.(=) p.(=) g.9859098A>G Copied from the Exome Variant Server SHROOM2_000019 8890/10561 6319/6726 2571/3835 - - - - - - -
?/? c.409A>G r.(?) p.(Thr137Ala) g.9859108A>G Copied from the Exome Variant Server SHROOM2_000020 44/10561 0/6727 44/3834 - - - - - - -
?/? c.411C>T r.(=) p.(=) g.9859110C>T Copied from the Exome Variant Server SHROOM2_000021 72/10561 2/6727 70/3834 - - - - - - -
?/? c.413G>A r.(?) p.(Ser138Asn) g.9859112G>A Copied from the Exome Variant Server SHROOM2_000022 1/10562 0/6728 1/3834 - - - - - - -
?/? c.432C>T r.(=) p.(=) g.9859131C>T Copied from the Exome Variant Server SHROOM2_000023 2/10562 0/6727 2/3835 - - - - - - -
?/? c.433G>A r.(?) p.(Gly145Ser) g.9859132G>A Copied from the Exome Variant Server SHROOM2_000024 1/10562 1/6727 0/3835 - - - - - - -
?/? c.449+14C>T r.(=) p.(=) g.9859162C>T Copied from the Exome Variant Server SHROOM2_000025 148/10562 1/6727 147/3835 - - - - - - -
?/? c.449+49A>G r.(=) p.(=) g.9859197A>G Copied from the Exome Variant Server SHROOM2_000026 8302/10557 6311/6724 1991/3833 - - - - - - -
?/? c.450-36G>C r.(=) p.(=) g.9862362G>C Copied from the Exome Variant Server SHROOM2_000027 2/10561 0/6726 2/3835 - - - - - - -
?/? c.450-19_450-17del r.(=) p.(=) g.9862379_9862381del Copied from the Exome Variant Server SHROOM2_000028 1/10205 0/6484 1/3721 - - - - - - -
?/? c.458C>T r.(?) p.(Ser153Phe) g.9862406C>T Copied from the Exome Variant Server SHROOM2_000029 1/10563 1/6728 0/3835 - - - - - - -
?/? c.463G>A r.(?) p.(Asp155Asn) g.9862411G>A Copied from the Exome Variant Server SHROOM2_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.483G>A r.(=) p.(=) g.9862431G>A Copied from the Exome Variant Server SHROOM2_000031 149/10563 1/6728 148/3835 - - - - - - -
?/? c.489G>T r.(=) p.(=) g.9862437G>T Copied from the Exome Variant Server SHROOM2_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.499C>T r.(?) p.(Arg167Cys) g.9862447C>T Copied from the Exome Variant Server SHROOM2_000033 2/10563 1/6728 1/3835 - - - - - - -
?/? c.603C>T r.(=) p.(=) g.9862551C>T Copied from the Exome Variant Server SHROOM2_000034 1/10563 1/6728 0/3835 - - - - - - -
?/? c.630C>T r.(=) p.(=) g.9862578C>T Copied from the Exome Variant Server SHROOM2_000035 2/10563 0/6728 2/3835 - - - - - - -
?/? c.631G>A r.(?) p.(Gly211Ser) g.9862579G>A Copied from the Exome Variant Server SHROOM2_000036 23/10563 21/6728 2/3835 - - - - - - -
?/? c.642C>T r.(=) p.(=) g.9862590C>T Copied from the Exome Variant Server SHROOM2_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.655A>G r.(?) p.(Thr219Ala) g.9862603A>G Copied from the Exome Variant Server SHROOM2_000038 1/10563 1/6728 0/3835 - - - - - - -
?/? c.682G>A r.(?) p.(Asp228Asn) g.9862630G>A Copied from the Exome Variant Server SHROOM2_000039 5/10563 0/6728 5/3835 - - - - - - -
?/? c.733C>T r.(?) p.(Pro245Ser) g.9862681C>T Copied from the Exome Variant Server SHROOM2_000040 1/10562 1/6728 0/3834 - - - - - - -
?/? c.762C>T r.(=) p.(=) g.9862710C>T Copied from the Exome Variant Server SHROOM2_000041 1/10555 1/6726 0/3829 - - - - - - -
?/? c.763G>A r.(?) p.(Ala255Thr) g.9862711G>A Copied from the Exome Variant Server SHROOM2_000042 19/10555 0/6726 19/3829 - - - - - - -
?/? c.783G>A r.(=) p.(=) g.9862731G>A Copied from the Exome Variant Server SHROOM2_000043 88/10551 79/6723 9/3828 - - - - - - -
?/? c.807G>A r.(=) p.(=) g.9862755G>A Copied from the Exome Variant Server SHROOM2_000044 2/10551 2/6724 0/3827 - - - - - - -
?/? c.820G>A r.(?) p.(Gly274Ser) g.9862768G>A Copied from the Exome Variant Server SHROOM2_000045 1/10548 0/6722 1/3826 - - - - - - -
?/? c.875C>T r.(?) p.(Ala292Val) g.9862823C>T Copied from the Exome Variant Server SHROOM2_000046 1/10560 1/6728 0/3832 - - - - - - -
?/? c.915C>G r.(=) p.(=) g.9862863C>G Copied from the Exome Variant Server SHROOM2_000047 1/10563 0/6728 1/3835 - - - - - - -
?/? c.986C>T r.(?) p.(Thr329Ile) g.9862934C>T Copied from the Exome Variant Server SHROOM2_000048 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1004C>T r.(?) p.(Ala335Val) g.9862952C>T Copied from the Exome Variant Server SHROOM2_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1061A>G r.(?) p.(Gln354Arg) g.9863009A>G Copied from the Exome Variant Server SHROOM2_000050 1/10561 1/6728 0/3833 - - - - - - -
?/? c.1068G>T r.(?) p.(Gln356His) g.9863016G>T Copied from the Exome Variant Server SHROOM2_000051 1/10561 1/6727 0/3834 - - - - - - -
?/? c.1085G>T r.(?) p.(Arg362Ile) g.9863033G>T Copied from the Exome Variant Server SHROOM2_000052 1/10556 1/6724 0/3832 - - - - - - -
?/? c.1093C>T r.(?) p.(Leu365Phe) g.9863041C>T Copied from the Exome Variant Server SHROOM2_000053 1/10558 1/6724 0/3834 - - - - - - -
?/? c.1102C>T r.(?) p.(Arg368Trp) g.9863050C>T Copied from the Exome Variant Server SHROOM2_000054 1/10554 1/6721 0/3833 - - - - - - -
?/? c.1154C>T r.(?) p.(Pro385Leu) g.9863102C>T Copied from the Exome Variant Server SHROOM2_000055 1/10533 1/6711 0/3822 - - - - - - -
?/? c.1164A>G r.(=) p.(=) g.9863112A>G Copied from the Exome Variant Server SHROOM2_000056 1793/10538 928/6716 865/3822 - - - - - - -
?/? c.1178C>A r.(?) p.(Ala393Glu) g.9863126C>A Copied from the Exome Variant Server SHROOM2_000057 3/10545 1/6720 2/3825 - - - - - - -
?/? c.1182C>T r.(=) p.(=) g.9863130C>T Copied from the Exome Variant Server SHROOM2_000058 1/10546 1/6719 0/3827 - - - - - - -
?/? c.1210G>A r.(?) p.(Ala404Thr) g.9863158G>A Copied from the Exome Variant Server SHROOM2_000059 1/10558 1/6725 0/3833 - - - - - - -
?/? c.1230_1241del r.(?) p.(Leu412_Ser415del) g.9863178_9863189del Copied from the Exome Variant Server SHROOM2_000060 27/10205 8/6484 19/3721 - - - - - - -
?/? c.1252C>T r.(?) p.(Arg418Cys) g.9863200C>T Copied from the Exome Variant Server SHROOM2_000061 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1257C>T r.(=) p.(=) g.9863205C>T Copied from the Exome Variant Server SHROOM2_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1275C>T r.(=) p.(=) g.9863223C>T Copied from the Exome Variant Server SHROOM2_000063 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1282_1283insA r.(?) p.(His428Glnfs*14) g.9863230_9863231insA Copied from the Exome Variant Server SHROOM2_000064 1/10205 1/6484 0/3721 - - - - - - -
?/? c.1301A>G r.(?) p.(Asp434Gly) g.9863249A>G Copied from the Exome Variant Server SHROOM2_000065 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1309C>T r.(?) p.(Pro437Ser) g.9863257C>T Copied from the Exome Variant Server SHROOM2_000066 100/10563 0/6728 100/3835 - - - - - - -
?/? c.1318G>A r.(?) p.(Ala440Thr) g.9863266G>A Copied from the Exome Variant Server SHROOM2_000067 18/10563 17/6728 1/3835 - - - - - - -
?/? c.1338G>T r.(?) p.(Glu446Asp) g.9863286G>T Copied from the Exome Variant Server SHROOM2_000068 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1342G>A r.(?) p.(Gly448Arg) g.9863290G>A Copied from the Exome Variant Server SHROOM2_000069 24/10562 0/6727 24/3835 - - - - - - -
?/? c.1348G>A r.(?) p.(Ala450Thr) g.9863296G>A Copied from the Exome Variant Server SHROOM2_000070 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1362C>A r.(?) p.(Asn454Lys) g.9863310C>A Copied from the Exome Variant Server SHROOM2_000071 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1417G>A r.(?) p.(Gly473Ser) g.9863365G>A Copied from the Exome Variant Server SHROOM2_000072 45/10538 0/6710 45/3828 - - - - - - -
?/? c.1443G>T r.(=) p.(=) g.9863391G>T Copied from the Exome Variant Server SHROOM2_000073 1/10539 1/6712 0/3827 - - - - - - -
?/? c.1476G>T r.(=) p.(=) g.9863424G>T Copied from the Exome Variant Server SHROOM2_000074 1/10544 0/6719 1/3825 - - - - - - -
?/? c.1478G>T r.(?) p.(Gly493Val) g.9863426G>T Copied from the Exome Variant Server SHROOM2_000075 82/10548 74/6721 8/3827 - - - - - - -
?/? c.1479A>T r.(=) p.(=) g.9863427A>T Copied from the Exome Variant Server SHROOM2_000076 1/10547 1/6720 0/3827 - - - - - - -
?/? c.1495A>G r.(?) p.(Thr499Ala) g.9863443A>G Copied from the Exome Variant Server SHROOM2_000077 7/10549 0/6719 7/3830 - - - - - - -
?/? c.1513G>A r.(?) p.(Glu505Lys) g.9863461G>A Copied from the Exome Variant Server SHROOM2_000078 2/10540 0/6717 2/3823 - - - - - - -
?/? c.1526C>A r.(?) p.(Pro509Gln) g.9863474C>A Copied from the Exome Variant Server SHROOM2_000079 12/10536 0/6716 12/3820 - - - - - - -
?/? c.1549C>T r.(?) p.(Arg517Cys) g.9863497C>T Copied from the Exome Variant Server SHROOM2_000080 8/10545 0/6716 8/3829 - - - - - - -
?/? c.1550G>A r.(?) p.(Arg517His) g.9863498G>A Copied from the Exome Variant Server SHROOM2_000081 51/10547 0/6716 51/3831 - - - - - - -
?/? c.1580C>T r.(?) p.(Pro527Leu) g.9863528C>T Copied from the Exome Variant Server SHROOM2_000082 3/10545 0/6715 3/3830 - - - - - - -
?/? c.1589G>A r.(?) p.(Arg530His) g.9863537G>A Copied from the Exome Variant Server SHROOM2_000083 1/10545 1/6716 0/3829 - - - - - - -
?/? c.1590C>T r.(=) p.(=) g.9863538C>T Copied from the Exome Variant Server SHROOM2_000084 1/10544 1/6715 0/3829 - - - - - - -
?/? c.1601G>A r.(?) p.(Arg534Gln) g.9863549G>A Copied from the Exome Variant Server SHROOM2_000085 93/10534 0/6710 93/3824 - - - - - - -
?/? c.1639G>A r.(?) p.(Ala547Thr) g.9863587G>A Copied from the Exome Variant Server SHROOM2_000086 59/10327 1/6575 58/3752 - - - - - - -
?/? c.1758G>A r.(=) p.(=) g.9863706G>A Copied from the Exome Variant Server SHROOM2_000087 1/10409 1/6649 0/3760 - - - - - - -
?/? c.1789C>T r.(?) p.(Arg597Trp) g.9863737C>T Copied from the Exome Variant Server SHROOM2_000088 1/10475 0/6686 1/3789 - - - - - - -
?/? c.1827G>A r.(=) p.(=) g.9863775G>A Copied from the Exome Variant Server SHROOM2_000089 1/10535 0/6715 1/3820 - - - - - - -
?/? c.1833G>A r.(=) p.(=) g.9863781G>A Copied from the Exome Variant Server SHROOM2_000090 1/10541 0/6716 1/3825 - - - - - - -
?/? c.1839C>T r.(=) p.(=) g.9863787C>T Copied from the Exome Variant Server SHROOM2_000091 1/10539 1/6714 0/3825 - - - - - - -
?/? c.1862G>A r.(?) p.(Arg621Gln) g.9863810G>A Copied from the Exome Variant Server SHROOM2_000092 1/10552 0/6722 1/3830 - - - - - - -
?/? c.1870G>A r.(?) p.(Asp624Asn) g.9863818G>A Copied from the Exome Variant Server SHROOM2_000093 2/10555 0/6724 2/3831 - - - - - - -
?/? c.1933C>T r.(?) p.(Arg645Trp) g.9863881C>T Copied from the Exome Variant Server SHROOM2_000094 1/10542 1/6714 0/3828 - - - - - - -
?/? c.1981G>A r.(?) p.(Gly661Ser) g.9863929G>A Copied from the Exome Variant Server SHROOM2_000095 12/10357 4/6604 8/3753 - - - - - - -
?/? c.1984C>T r.(?) p.(Arg662Cys) g.9863932C>T Copied from the Exome Variant Server SHROOM2_000096 1/10324 0/6582 1/3742 - - - - - - -
?/? c.1985G>A r.(?) p.(Arg662His) g.9863933G>A Copied from the Exome Variant Server SHROOM2_000097 1/10279 0/6556 1/3723 - - - - - - -
?/? c.1996G>T r.(?) p.(Gly666Trp) g.9863944G>T Copied from the Exome Variant Server SHROOM2_000098 38/10264 0/6552 38/3712 - - - - - - -
?/? c.2068C>T r.(?) p.(Arg690Trp) g.9864016C>T Copied from the Exome Variant Server SHROOM2_000099 1/10395 0/6629 1/3766 - - - - - - -
?/? c.2095C>T r.(?) p.(Arg699Cys) g.9864043C>T Copied from the Exome Variant Server SHROOM2_000100 1/10501 0/6685 1/3816 - - - - - - -
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