Full data view for gene IGSF1

Information The variants shown are described using the NM_001170961.1 transcript reference sequence.

178 entries on 2 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.-100_-99insG r.(=) p.(=) g.130423219_130423220insC Copied from the Exome Variant Server IGSF1_000172 127/5760 117/3702 10/2058 - - - - - - -
?/? c.-68+48A>G r.(=) p.(=) g.130423140T>C Copied from the Exome Variant Server IGSF1_000170 6/4525 5/3107 1/1418 - - - - - - -
?/? c.-8G>C r.(=) p.(=) g.130420656C>G Copied from the Exome Variant Server IGSF1_000168 1/10563 1/6728 0/3835 - - - - - - -
?/? c.21G>C r.(=) p.(=) g.130420628C>G Copied from the Exome Variant Server IGSF1_000178 1/10563 0/6728 1/3835 - - - - - - -
?/? c.70+15G>C r.(=) p.(=) g.130420564C>G Copied from the Exome Variant Server IGSF1_000177 1/10563 1/6728 0/3835 - - - - - - -
?/? c.70+22G>A r.(=) p.(=) g.130420557C>T Copied from the Exome Variant Server IGSF1_000176 1/10563 0/6728 1/3835 - - - - - - -
?/? c.70+38T>G r.(=) p.(=) g.130420541A>C Copied from the Exome Variant Server IGSF1_000175 3/10563 0/6728 3/3835 - - - - - - -
?/? c.70+48C>A r.(=) p.(=) g.130420531G>T Copied from the Exome Variant Server IGSF1_000174 1/10563 1/6728 0/3835 - - - - - - -
?/? c.70+53C>T r.(=) p.(=) g.130420526G>A Copied from the Exome Variant Server IGSF1_000173 1/3600 1/2391 0/1209 - - - - - - -
?/? c.71-65T>G r.(=) p.(=) g.130420502A>C Copied from the Exome Variant Server IGSF1_000171 174/3600 115/2391 59/1209 - - - - - - -
?/? c.92C>T r.(?) p.(Ser31Leu) g.130420416G>A Copied from the Exome Variant Server IGSF1_000169 1/10563 0/6728 1/3835 - - - - - - -
?/? c.93A>G N/A N/A g.130420415T>C Copied from the Exome Variant Server IGSF1_000167 10262/10563 6727/6728 3535/3835 - - - - - - -
?/? c.97+10T>C r.(=) p.(=) g.130420401A>G Copied from the Exome Variant Server IGSF1_000166 2/10563 2/6728 0/3835 - - - - - - -
?/? c.97+25C>T r.(=) p.(=) g.130420386G>A Copied from the Exome Variant Server IGSF1_000165 23/10563 18/6728 5/3835 - - - - - - -
?/? c.97+48del r.(=) p.(=) g.130420363del Copied from the Exome Variant Server IGSF1_000164 19/10205 1/6484 18/3721 - - - - - - -
?/? c.98-32G>A r.(=) p.(=) g.130420054C>T Copied from the Exome Variant Server IGSF1_000163 1/10562 1/6727 0/3835 - - - - - - -
?/? c.98-30T>A r.(=) p.(=) g.130420052A>T Copied from the Exome Variant Server IGSF1_000162 1/10562 0/6727 1/3835 - - - - - - -
?/? c.98-16T>C r.(=) p.(=) g.130420038A>G Copied from the Exome Variant Server IGSF1_000161 1/10563 0/6728 1/3835 - - - - - - -
?/? c.98T>C r.(?) p.(Val33Ala) g.130420022A>G Copied from the Exome Variant Server IGSF1_000160 1/10563 0/6728 1/3835 - - - - - - -
?/? c.114A>G N/A N/A g.130420006T>C Copied from the Exome Variant Server IGSF1_000159 9895/10563 6727/6728 3168/3835 - - - - - - -
?/? c.148C>A r.(?) p.(Pro50Thr) g.130419972G>T Copied from the Exome Variant Server IGSF1_000158 1/10563 1/6728 0/3835 - - - - - - -
?/? c.153G>C r.(?) p.(Trp51Cys) g.130419967C>G Copied from the Exome Variant Server IGSF1_000157 1/10563 0/6728 1/3835 - - - - - - -
?/? c.164C>T r.(?) p.(Thr55Met) g.130419956G>A Copied from the Exome Variant Server IGSF1_000156 6/10563 1/6728 5/3835 - - - - - - -
?/? c.165G>A r.(=) p.(=) g.130419955C>T Copied from the Exome Variant Server IGSF1_000155 1/10563 0/6728 1/3835 - - - - - - -
?/? c.197G>A r.(?) p.(Ser66Asn) g.130419923C>T Copied from the Exome Variant Server IGSF1_000154 1/10563 1/6728 0/3835 - - - - - - -
?/? c.254_256del r.(?) p.(Lys85del) g.130419864_130419866del Copied from the Exome Variant Server IGSF1_000153 7/10205 6/6484 1/3721 - - - - - - -
?/? c.299A>G r.(?) p.(Asn100Ser) g.130419821T>C Copied from the Exome Variant Server IGSF1_000152 2/10563 2/6728 0/3835 - - - - - - -
?/? c.314G>A r.(?) p.(Arg105Gln) g.130419806C>T Copied from the Exome Variant Server IGSF1_000151 1/10563 1/6728 0/3835 - - - - - - -
?/? c.379+3A>G r.spl? p.? g.130419738T>C Copied from the Exome Variant Server IGSF1_000150 1/10563 1/6728 0/3835 - - - - - - -
?/? c.379+51C>T r.(=) p.(=) g.130419690G>A Copied from the Exome Variant Server IGSF1_000149 1/10562 1/6727 0/3835 - - - - - - -
?/? c.498G>C r.(?) p.(Glu166Asp) g.130419322C>G Copied from the Exome Variant Server IGSF1_000148 7/10563 6/6728 1/3835 - - - - - - -
?/? c.522C>T r.(=) p.(=) g.130419298G>A Copied from the Exome Variant Server IGSF1_000147 31/10563 0/6728 31/3835 - - - - - - -
?/? c.599G>A r.(?) p.(Arg200His) g.130419221C>T Copied from the Exome Variant Server IGSF1_000146 3/10563 0/6728 3/3835 - - - - - - -
?/? c.639C>A r.(=) p.(=) g.130419181G>T Copied from the Exome Variant Server IGSF1_000145 3/10563 0/6728 3/3835 - - - - - - -
?/? c.651G>A r.(=) p.(=) g.130419169C>T Copied from the Exome Variant Server IGSF1_000144 1/10563 0/6728 1/3835 - - - - - - -
?/? c.667+42C>G r.(=) p.(=) g.130419111G>C Copied from the Exome Variant Server IGSF1_000143 9/10563 6/6728 3/3835 - - - - - - -
?/? c.667+50C>A r.(=) p.(=) g.130419103G>T Copied from the Exome Variant Server IGSF1_000142 1/10563 1/6728 0/3835 - - - - - - -
?/? c.667+54G>A r.(=) p.(=) g.130419099C>T Copied from the Exome Variant Server IGSF1_000141 1/10563 1/6728 0/3835 - - - - - - -
?/? c.667+55C>T r.(=) p.(=) g.130419098G>A Copied from the Exome Variant Server IGSF1_000140 1/10563 1/6728 0/3835 - - - - - - -
?/? c.668-29T>C r.(=) p.(=) g.130417267A>G Copied from the Exome Variant Server IGSF1_000139 2/10562 0/6727 2/3835 - - - - - - -
?/? c.668-8G>A r.(=) p.(=) g.130417246C>T Copied from the Exome Variant Server IGSF1_000138 18/10563 17/6728 1/3835 - - - - - - -
?/? c.732G>A r.(=) p.(=) g.130417174C>T Copied from the Exome Variant Server IGSF1_000137 77/10563 67/6728 10/3835 - - - - - - -
?/? c.744C>T r.(=) p.(=) g.130417162G>A Copied from the Exome Variant Server IGSF1_000136 3/10563 0/6728 3/3835 - - - - - - -
?/? c.758A>G r.(?) p.(Tyr253Cys) g.130417148T>C Copied from the Exome Variant Server IGSF1_000135 4/10563 3/6728 1/3835 - - - - - - -
?/? c.824_826del r.(?) p.(Ile275del) g.130417080_130417082del Copied from the Exome Variant Server IGSF1_000134 5/10205 2/6484 3/3721 - - - - - - -
?/? c.874G>A r.(?) p.(Gly292Arg) g.130417032C>T Copied from the Exome Variant Server IGSF1_000133 1/10563 0/6728 1/3835 - - - - - - -
?/? c.883C>T r.(?) p.(Leu295Phe) g.130417023G>A Copied from the Exome Variant Server IGSF1_000132 1/10563 0/6728 1/3835 - - - - - - -
?/? c.900C>T r.(=) p.(=) g.130417006G>A Copied from the Exome Variant Server IGSF1_000131 1/10563 0/6728 1/3835 - - - - - - -
?/? c.928G>A r.(?) p.(Asp310Asn) g.130416978C>T Copied from the Exome Variant Server IGSF1_000130 1/10563 1/6728 0/3835 - - - - - - -
?/? c.929A>T r.(?) p.(Asp310Val) g.130416977T>A Copied from the Exome Variant Server IGSF1_000129 4/10563 4/6728 0/3835 - - - - - - -
?/? c.948G>A r.(=) p.(=) g.130416958C>T Copied from the Exome Variant Server IGSF1_000128 9382/10563 6722/6728 2660/3835 - - - - - - -
?/? c.952+10G>A r.(=) p.(=) g.130416944C>T Copied from the Exome Variant Server IGSF1_000127 1/10563 0/6728 1/3835 - - - - - - -
?/? c.983G>A r.(?) p.(Arg328Gln) g.130416681C>T Copied from the Exome Variant Server IGSF1_000126 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1064A>G r.(?) p.(Tyr355Cys) g.130416600T>C Copied from the Exome Variant Server IGSF1_000125 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1107C>T r.(=) p.(=) g.130416557G>A Copied from the Exome Variant Server IGSF1_000124 4/10563 0/6728 4/3835 - - - - - - -
?/? c.1113C>T r.(=) p.(=) g.130416551G>A Copied from the Exome Variant Server IGSF1_000123 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1128A>G r.(=) p.(=) g.130416536T>C Copied from the Exome Variant Server IGSF1_000122 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1176C>T r.(=) p.(=) g.130416488G>A Copied from the Exome Variant Server IGSF1_000121 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1184T>G r.(?) p.(Leu395Arg) g.130416480A>C Copied from the Exome Variant Server IGSF1_000120 113/10563 103/6728 10/3835 - - - - - - -
?/? c.1190C>T r.(?) p.(Thr397Ile) g.130416474G>A Copied from the Exome Variant Server IGSF1_000119 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1247-8G>C r.(=) p.(=) g.130415926C>G Copied from the Exome Variant Server IGSF1_000118 37/10563 4/6728 33/3835 - - - - - - -
?/? c.1280C>G r.(?) p.(Pro427Arg) g.130415885G>C Copied from the Exome Variant Server IGSF1_000117 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1284C>A r.(?) p.(Ser428Arg) g.130415881G>T Copied from the Exome Variant Server IGSF1_000116 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1323C>T r.(=) p.(=) g.130415842G>A Copied from the Exome Variant Server IGSF1_000115 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1347A>G r.(=) p.(=) g.130415818T>C Copied from the Exome Variant Server IGSF1_000114 5068/10563 3011/6728 2057/3835 - - - - - - -
?/? c.1390T>C r.(?) p.(Ser464Pro) g.130415775A>G Copied from the Exome Variant Server IGSF1_000113 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1393G>T r.(?) p.(Val465Leu) g.130415772C>A Copied from the Exome Variant Server IGSF1_000112 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1425C>T r.(=) p.(=) g.130415740G>A Copied from the Exome Variant Server IGSF1_000111 12/10563 0/6728 12/3835 - - - - - - -
?/? c.1431A>C r.(?) p.(Lys477Asn) g.130415734T>G Copied from the Exome Variant Server IGSF1_000110 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1461C>T r.(=) p.(=) g.130415704G>A Copied from the Exome Variant Server IGSF1_000109 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1492C>A r.(?) p.(Arg498Ser) g.130415673G>T Copied from the Exome Variant Server IGSF1_000108 6/10563 6/6728 0/3835 - - - - - - -
?/? c.1525+39C>G r.(=) p.(=) g.130415601G>C Copied from the Exome Variant Server IGSF1_000106 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1525+41C>T r.(=) p.(=) g.130415599G>A Copied from the Exome Variant Server IGSF1_000104 6/10563 0/6728 6/3835 - - - - - - -
?/? c.1526-41T>G r.(=) p.(=) g.130415353A>C Copied from the Exome Variant Server IGSF1_000102 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1526-34C>T r.(=) p.(=) g.130415346G>A Copied from the Exome Variant Server IGSF1_000100 49/10563 42/6728 7/3835 - - - - - - -
?/? c.1526-3C>T r.spl? p.? g.130415315G>A Copied from the Exome Variant Server IGSF1_000098 6/10563 4/6728 2/3835 - - - - - - -
?/? c.1546G>A r.(?) p.(Val516Ile) g.130415292C>T Copied from the Exome Variant Server IGSF1_000096 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1566G>A r.(=) p.(=) g.130415272C>T Copied from the Exome Variant Server IGSF1_000094 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1579A>G r.(?) p.(Met527Val) g.130415259T>C Copied from the Exome Variant Server IGSF1_000107 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1646+7G>A r.(=) p.(=) g.130415185C>T Copied from the Exome Variant Server IGSF1_000105 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1646+11_1646+12insT r.(=) p.(=) g.130415180_130415181insA Copied from the Exome Variant Server IGSF1_000103 510/10205 3/6484 507/3721 - - - - - - -
?/? c.1647-22A>G r.(=) p.(=) g.130413337T>C Copied from the Exome Variant Server IGSF1_000101 2/10558 2/6726 0/3832 - - - - - - -
?/? c.1666A>T r.(?) p.(Thr556Ser) g.130413296T>A Copied from the Exome Variant Server IGSF1_000099 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1717+11G>A r.(=) p.(=) g.130413234C>T Copied from the Exome Variant Server IGSF1_000097 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1717+13G>T r.(=) p.(=) g.130413232C>A Copied from the Exome Variant Server IGSF1_000095 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1717+40G>A r.(=) p.(=) g.130413205C>T Copied from the Exome Variant Server IGSF1_000093 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1718-39G>T r.(=) p.(=) g.130413203C>A Copied from the Exome Variant Server IGSF1_000092 30/10563 26/6728 4/3835 - - - - - - -
?/? c.1718-28G>A r.(=) p.(=) g.130413192C>T Copied from the Exome Variant Server IGSF1_000091 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1718-12G>C r.(=) p.(=) g.130413176C>G Copied from the Exome Variant Server IGSF1_000090 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1735C>G r.(?) p.(Leu579Val) g.130413147G>C Copied from the Exome Variant Server IGSF1_000089 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1743T>C r.(=) p.(=) g.130413139A>G Copied from the Exome Variant Server IGSF1_000088 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1757A>G r.(?) p.(Glu586Gly) g.130413125T>C Copied from the Exome Variant Server IGSF1_000087 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1765+18C>T r.(=) p.(=) g.130413099G>A Copied from the Exome Variant Server IGSF1_000086 12/10563 9/6728 3/3835 - - - - - - -
?/? c.1766-46_1766-45insAGGAGGGAGG r.(=) p.(=) g.130412770_130412771insCCTCCCTCCT Copied from the Exome Variant Server IGSF1_000085 23/9479 17/6006 6/3473 - - - - - - -
?/? c.1766-44G>A r.(=) p.(=) g.130412769C>T Copied from the Exome Variant Server IGSF1_000084 1/10253 1/6532 0/3721 - - - - - - -
?/? c.1766-35C>T r.(=) p.(=) g.130412760G>A Copied from the Exome Variant Server IGSF1_000083 1/10333 1/6581 0/3752 - - - - - - -
?/? c.1766-34G>A r.(=) p.(=) g.130412759C>T Copied from the Exome Variant Server IGSF1_000082 2/10374 2/6596 0/3778 - - - - - - -
?/? c.1767A>G r.(=) p.(=) g.130412724T>C Copied from the Exome Variant Server IGSF1_000081 1/10531 0/6709 1/3822 - - - - - - -
?/? c.1775T>C r.(?) p.(Met592Thr) g.130412716A>G Copied from the Exome Variant Server IGSF1_000079 1/10547 1/6718 0/3829 - - - - - - -
?/? c.1811A>C r.(?) p.(Asn604Thr) g.130412680T>G Copied from the Exome Variant Server IGSF1_000077 106/10559 97/6724 9/3835 - - - - - - -
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