Unique variants in gene HAUS7

Information The variants shown are described using the NM_017518.7 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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.23C>T r.(?) p.(Ala8Val) g.152736023G>A Copied from the Exome Variant Server HAUS7_000055 1/10295 0/6559 1/3736
1 c.45C>T r.(=) p.(=) g.152736001G>A Copied from the Exome Variant Server HAUS7_000054 2/10115 2/6455 0/3660
1 c.55G>T r.(?) p.(Gly19Cys) g.152735991C>A Copied from the Exome Variant Server HAUS7_000053 1/10379 1/6623 0/3756
1 c.63C>T r.(=) p.(=) g.152735983G>A Copied from the Exome Variant Server HAUS7_000052 1/10482 1/6679 0/3803
1 c.82G>A r.(?) p.(Asp28Asn) g.152735964C>T Copied from the Exome Variant Server HAUS7_000051 56/10538 0/6720 56/3818
1 c.87G>A r.(=) p.(=) g.152735959C>T Copied from the Exome Variant Server HAUS7_000086 1775/10539 1644/6720 131/3819
1 c.121G>A r.(?) p.(Val41Met) g.152735925C>T Copied from the Exome Variant Server HAUS7_000085 1/10551 1/6724 0/3827
1 c.139-47G>A r.(=) p.(=) g.152734766C>T Copied from the Exome Variant Server HAUS7_000084 2/10560 0/6727 2/3833
1 c.159C>T r.(=) p.(=) g.152734699G>A Copied from the Exome Variant Server HAUS7_000083 1/10563 1/6728 0/3835
1 c.172A>C r.(?) p.(Ile58Leu) g.152734686T>G Copied from the Exome Variant Server HAUS7_000080 1/10563 0/6728 1/3835
1 c.254+20C>T r.(=) p.(=) g.152734584G>A Copied from the Exome Variant Server HAUS7_000079 98/10563 1/6728 97/3835
1 c.254+20_254+22del r.(=) p.(=) g.152734582_152734584del Copied from the Exome Variant Server HAUS7_000078 55/10205 24/6484 31/3721
1 c.255-51G>A r.(=) p.(=) g.152730564C>T Copied from the Exome Variant Server HAUS7_000077 3/10563 1/6728 2/3835
1 c.273G>A r.(=) p.(=) g.152730495C>T Copied from the Exome Variant Server HAUS7_000076 1/10563 1/6728 0/3835
1 c.323-32C>T r.(=) p.(=) g.152728161G>A Copied from the Exome Variant Server HAUS7_000075 1/10563 1/6728 0/3835
1 c.323-26A>G r.(=) p.(=) g.152728155T>C Copied from the Exome Variant Server HAUS7_000074 6112/10563 4611/6728 1501/3835
1 c.323-10G>A r.(=) p.(=) g.152728139C>T Copied from the Exome Variant Server HAUS7_000073 1/10563 0/6728 1/3835
1 c.324A>G r.(=) p.(=) g.152728128T>C Copied from the Exome Variant Server HAUS7_000072 1/10563 1/6728 0/3835
1 c.342C>T r.(=) p.(=) g.152728110G>A Copied from the Exome Variant Server HAUS7_000071 1/10563 1/6728 0/3835
1 c.351G>A r.(?) p.(Met117Ile) g.152728101C>T Copied from the Exome Variant Server HAUS7_000070 1/10563 1/6728 0/3835
1 c.369C>T r.(=) p.(=) g.152728083G>A Copied from the Exome Variant Server HAUS7_000069 3/10563 3/6728 0/3835
1 c.384+34C>T r.(=) p.(=) g.152728034G>A Copied from the Exome Variant Server HAUS7_000068 26/10563 1/6728 25/3835
1 c.384+39G>A r.(=) p.(=) g.152728029C>T Copied from the Exome Variant Server HAUS7_000067 1/10563 0/6728 1/3835
1 c.384+65A>G r.(=) p.(=) g.152728003T>C Copied from the Exome Variant Server HAUS7_000066 1515/3599 745/2390 770/1209
1 c.385-47C>G r.(=) p.(=) g.152722733G>C Copied from the Exome Variant Server HAUS7_000065 1/10560 1/6725 0/3835
1 c.385-44G>C r.(=) p.(=) g.152722730C>G Copied from the Exome Variant Server HAUS7_000064 2/10561 0/6726 2/3835
1 c.387C>G r.(=) p.(=) g.152722684G>C Copied from the Exome Variant Server HAUS7_000025 4/10563 0/6728 4/3835
1 c.393C>T r.(=) p.(=) g.152722678G>A Copied from the Exome Variant Server HAUS7_000024 3/10563 3/6728 0/3835
1 c.396C>T r.(=) p.(=) g.152722675G>A Copied from the Exome Variant Server HAUS7_000023 59/10563 0/6728 59/3835
1 c.397G>A r.(?) p.(Ala133Thr) g.152722674C>T Copied from the Exome Variant Server HAUS7_000022 5/10563 5/6728 0/3835
1 c.473C>T r.(?) p.(Ser158Leu) g.152722598G>A Copied from the Exome Variant Server HAUS7_000021 2/10563 1/6728 1/3835
1 c.476+36C>T r.(=) p.(=) g.152722559G>A Copied from the Exome Variant Server HAUS7_000020 2/10563 2/6728 0/3835
1 c.477-29C>T r.(=) p.(=) g.152722138G>A Copied from the Exome Variant Server HAUS7_000019 34/10352 0/6589 34/3763
1 c.479T>C r.(?) p.(Leu160Pro) g.152722107A>G Copied from the Exome Variant Server HAUS7_000018 1/10497 1/6686 0/3811
1 c.501C>A r.(=) p.(=) g.152722085G>T Copied from the Exome Variant Server HAUS7_000017 1/10523 1/6706 0/3817
1 c.525G>A r.(=) p.(=) g.152722061C>T Copied from the Exome Variant Server HAUS7_000016 34/10535 0/6713 34/3822
1 c.547C>A r.(?) p.(His183Asn) g.152722039G>T Copied from the Exome Variant Server HAUS7_000015 1/10534 0/6713 1/3821
1 c.561C>A r.(=) p.(=) g.152722025G>T Copied from the Exome Variant Server HAUS7_000014 1/10531 1/6709 0/3822
1 c.582G>A r.(=) p.(=) g.152722004C>T Copied from the Exome Variant Server HAUS7_000013 2/10536 0/6709 2/3827
1 c.591G>A r.(=) p.(=) g.152721995C>T Copied from the Exome Variant Server HAUS7_000012 1/10532 0/6708 1/3824
1 c.635+51C>T r.(=) p.(=) g.152721900G>A Copied from the Exome Variant Server HAUS7_000011 7/10554 1/6722 6/3832
1 c.636-45C>T r.(=) p.(=) g.152721867G>A Copied from the Exome Variant Server HAUS7_000010 1/10563 0/6728 1/3835
1 c.636-35G>A r.(=) p.(=) g.152721857C>T Copied from the Exome Variant Server HAUS7_000009 2/10563 2/6728 0/3835
1 c.636-19T>C r.(=) p.(=) g.152721841A>G Copied from the Exome Variant Server HAUS7_000008 1382/10563 46/6728 1336/3835
1 c.647C>G r.(?) p.(Ser216Cys) g.152721811G>C Copied from the Exome Variant Server HAUS7_000007 89/10563 1/6728 88/3835
1 c.714G>A r.(=) p.(=) g.152721744C>T Copied from the Exome Variant Server HAUS7_000006 6/10563 6/6728 0/3835
1 c.723G>A r.(=) p.(=) g.152721735C>T Copied from the Exome Variant Server HAUS7_000005 6/10563 0/6728 6/3835
1 c.730A>G r.(?) p.(Thr244Ala) g.152721728T>C Copied from the Exome Variant Server HAUS7_000004 382/10563 358/6728 24/3835
1 c.732G>A r.(=) p.(=) g.152721726C>T Copied from the Exome Variant Server HAUS7_000003 1/10563 0/6728 1/3835
1 c.762T>C r.(=) p.(=) g.152721198A>G Copied from the Exome Variant Server HAUS7_000002 1389/10563 45/6728 1344/3835
1 c.772G>A r.(?) p.(Ala258Thr) g.152721188C>T Copied from the Exome Variant Server HAUS7_000001 5/10563 5/6728 0/3835
1 c.777C>T r.(=) p.(=) g.152721183G>A Copied from the Exome Variant Server HAUS7_000063 1/10563 1/6728 0/3835
1 c.861C>T r.(=) p.(=) g.152721099G>A Copied from the Exome Variant Server HAUS7_000062 1/10563 1/6728 0/3835
1 c.864C>T r.(=) p.(=) g.152721096G>A Copied from the Exome Variant Server HAUS7_000061 1/10563 1/6728 0/3835
1 c.874G>A r.(?) p.(Glu292Lys) g.152721086C>T Copied from the Exome Variant Server HAUS7_000060 1/10563 1/6728 0/3835
1 c.887G>A r.(?) p.(Arg296His) g.152721073C>T Copied from the Exome Variant Server HAUS7_000050 1/10563 1/6728 0/3835
1 c.909G>A r.(=) p.(=) g.152721051C>T Copied from the Exome Variant Server HAUS7_000049 2/10563 2/6728 0/3835
1 c.912C>T r.(=) p.(=) g.152721048G>A Copied from the Exome Variant Server HAUS7_000048 6/10563 0/6728 6/3835
1 c.960+21C>T r.(=) p.(=) g.152720979G>A Copied from the Exome Variant Server HAUS7_000047 760/10553 43/6724 717/3829
1 c.960+30C>T r.(=) p.(=) g.152720970G>A Copied from the Exome Variant Server HAUS7_000046 1/10547 0/6721 1/3826
1 c.960+453G>A r.(=) p.(=) g.152720547C>T Copied from the Exome Variant Server HAUS7_000045 3/10563 0/6728 3/3835
1 c.960+514C>T r.(=) p.(=) g.152720486G>A Copied from the Exome Variant Server HAUS7_000044 1/10563 1/6728 0/3835
1 c.961-457G>A r.(=) p.(=) g.152720423C>T Copied from the Exome Variant Server HAUS7_000043 44/10563 42/6728 2/3835
1 c.961-448A>G r.(=) p.(=) g.152720414T>C Copied from the Exome Variant Server HAUS7_000042 2/10563 0/6728 2/3835
1 c.961-410C>T r.(=) p.(=) g.152720376G>A Copied from the Exome Variant Server HAUS7_000041 1/10563 1/6728 0/3835
1 c.961-380C>T r.(=) p.(=) g.152720346G>A Copied from the Exome Variant Server HAUS7_000040 1/10563 1/6728 0/3835
1 c.961-361C>T r.(=) p.(=) g.152720327G>A Copied from the Exome Variant Server HAUS7_000039 15/10563 0/6728 15/3835
1 c.961-348T>A r.(=) p.(=) g.152720314A>T Copied from the Exome Variant Server HAUS7_000038 1/10563 0/6728 1/3835
1 c.961-11_961-3del r.spl? p.? g.152719969_152719977del Copied from the Exome Variant Server HAUS7_000037 103/10102 61/6407 42/3695
1 c.1006G>A r.(?) p.(Val336Met) g.152719921C>T Copied from the Exome Variant Server HAUS7_000036 8/10563 1/6728 7/3835
1 c.1047G>T r.(?) p.(Trp349Cys) g.152719880C>A Copied from the Exome Variant Server HAUS7_000035 6/10563 0/6728 6/3835
1 c.1059C>G r.(?) p.(Ser353Arg) g.152719868G>C Copied from the Exome Variant Server HAUS7_000034 1/10563 1/6728 0/3835
1 c.1067T>C r.(?) p.(Met356Thr) g.152719860A>G Copied from the Exome Variant Server HAUS7_000033 1/10563 0/6728 1/3835
1 c.1075+20G>A r.(=) p.(=) g.152719832C>T Copied from the Exome Variant Server HAUS7_000032 2/10563 2/6728 0/3835
1 c.1075+44G>A r.(=) p.(=) g.152719808C>T Copied from the Exome Variant Server HAUS7_000031 1/10563 1/6728 0/3835
1 c.1076-39C>A r.(=) p.(=) g.152713406G>T Copied from the Exome Variant Server HAUS7_000030 544/10563 3/6728 541/3835
1 c.1076-29C>T r.(=) p.(=) g.152713396G>A Copied from the Exome Variant Server HAUS7_000029 1/10563 1/6728 0/3835
1 c.1076-21T>A r.(=) p.(=) g.152713388A>T Copied from the Exome Variant Server HAUS7_000028 1/10563 0/6728 1/3835
1 c.1076-7T>C r.(=) p.(=) g.152713374A>G Copied from the Exome Variant Server HAUS7_000027 28/10563 0/6728 28/3835
1 c.*18C>G r.(=) p.(=) g.152713318G>C Copied from the Exome Variant Server HAUS7_000026 1/10563 1/6728 0/3835
1 c.*22C>T r.(=) p.(=) g.152713314G>A Copied from the Exome Variant Server HAUS7_000059 2/10563 1/6728 1/3835
1 c.*32C>G r.(=) p.(=) g.152713304G>C Copied from the Exome Variant Server HAUS7_000058 1/10563 0/6728 1/3835
1 c.*42C>T r.(=) p.(=) g.152713294G>A Copied from the Exome Variant Server HAUS7_000057 2/10563 2/6728 0/3835
1 c.*45G>A r.(=) p.(=) g.152713291C>T Copied from the Exome Variant Server HAUS7_000056 1/10563 1/6728 0/3835
1 c.*76C>T r.(=) p.(=) g.152713260G>A Copied from the Exome Variant Server HAUS7_000082 2/8125 2/5498 0/2627
1 c.*104C>T r.(=) p.(=) g.152713232G>A Copied from the Exome Variant Server HAUS7_000081 1/4525 0/3107 1/1418
Legend