Unique variants in gene EXT1

Information The variants shown are described using the NM_000127.2 transcript reference sequence.

112 entries on 2 pages. Showing entries 1 - 100.
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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.99C>T r.(=) p.(=) g.119123187G>A Copied from the Exome Variant Server EXT1_000112 6/13006 0/8600 6/4406
1 c.114A>G r.(=) p.(=) g.119123172T>C Copied from the Exome Variant Server EXT1_000111 217/13006 2/8600 215/4406
1 c.117A>G r.(=) p.(=) g.119123169T>C Copied from the Exome Variant Server EXT1_000110 81/13006 4/8600 77/4406
1 c.124G>A r.(?) p.(Gly42Ser) g.119123162C>T Copied from the Exome Variant Server EXT1_000109 2/13006 0/8600 2/4406
1 c.146C>G r.(?) p.(Pro49Arg) g.119123140G>C Copied from the Exome Variant Server EXT1_000108 1/13006 1/8600 0/4406
1 c.151C>T r.(?) p.(Pro51Ser) g.119123135G>A Copied from the Exome Variant Server EXT1_000107 1/13006 0/8600 1/4406
1 c.154G>T r.(?) p.(Asp52Tyr) g.119123132C>A Copied from the Exome Variant Server EXT1_000106 1/13006 1/8600 0/4406
1 c.166C>T r.(?) p.(Pro56Ser) g.119123120G>A Copied from the Exome Variant Server EXT1_000105 1/13006 1/8600 0/4406
1 c.181G>C r.(?) p.(Ala61Pro) g.119123105C>G Copied from the Exome Variant Server EXT1_000104 1/13006 0/8600 1/4406
1 c.184C>A r.(?) p.(Leu62Met) g.119123102G>T Copied from the Exome Variant Server EXT1_000103 1/13006 1/8600 0/4406
1 c.200C>A r.(?) p.(Pro67His) g.119123086G>T Copied from the Exome Variant Server EXT1_000102 1/13006 1/8600 0/4406
1 c.210A>T r.(?) p.(Gln70His) g.119123076T>A Copied from the Exome Variant Server EXT1_000101 1/13006 1/8600 0/4406
1 c.214G>A r.(?) p.(Glu72Lys) g.119123072C>T Copied from the Exome Variant Server EXT1_000100 3/13006 2/8600 1/4406
1 c.252G>C r.(?) p.(Gln84His) g.119123034C>G Copied from the Exome Variant Server EXT1_000099 1/13006 1/8600 0/4406
1 c.344A>G r.(?) p.(Lys115Arg) g.119122942T>C Copied from the Exome Variant Server EXT1_000098 1/13006 0/8600 1/4406
1 c.346G>T r.(?) p.(Val116Phe) g.119122940C>A Copied from the Exome Variant Server EXT1_000097 1/13006 0/8600 1/4406
1 c.358C>T r.(?) p.(Pro120Ser) g.119122928G>A Copied from the Exome Variant Server EXT1_000096 1/13006 0/8600 1/4406
1 c.380T>A r.(?) p.(Ile127Asn) g.119122906A>T Copied from the Exome Variant Server EXT1_000095 1/13006 0/8600 1/4406
1 c.543C>T r.(=) p.(=) g.119122743G>A Copied from the Exome Variant Server EXT1_000094 1/13006 1/8600 0/4406
1 c.615G>A r.(=) p.(=) g.119122671C>T Copied from the Exome Variant Server EXT1_000093 1/13004 0/8600 1/4404
1 c.635G>C r.(?) p.(Gly212Ala) g.119122651C>G Copied from the Exome Variant Server EXT1_000092 2/12998 2/8594 0/4404
1 c.668C>T r.(?) p.(Thr223Ile) g.119122618G>A Copied from the Exome Variant Server EXT1_000091 1/13006 0/8600 1/4406
1 c.699T>C r.(=) p.(=) g.119122587A>G Copied from the Exome Variant Server EXT1_000090 1/13006 1/8600 0/4406
1 c.741G>A r.(=) p.(=) g.119122545C>T Copied from the Exome Variant Server EXT1_000089 8/13006 0/8600 8/4406
1 c.791T>A r.(?) p.(Leu264Gln) g.119122495A>T Copied from the Exome Variant Server EXT1_000088 1/13006 1/8600 0/4406
1 c.873C>G r.(?) p.(Asp291Glu) g.119122413G>C Copied from the Exome Variant Server EXT1_000087 1/13006 0/8600 1/4406
1 c.962+8_962+11del r.(=) p.(=) g.119122313_119122316del Copied from the Exome Variant Server EXT1_000086 312/12518 2/8254 310/4264
1 c.962+17G>A r.(=) p.(=) g.119122307C>T Copied from the Exome Variant Server EXT1_000085 1/13006 0/8600 1/4406
1 c.962+19G>A r.(=) p.(=) g.119122305C>T Copied from the Exome Variant Server EXT1_000084 1/13006 0/8600 1/4406
1 c.962+22T>C r.(=) p.(=) g.119122302A>G Copied from the Exome Variant Server EXT1_000083 32/13006 25/8600 7/4406
1 c.962+36C>A r.(=) p.(=) g.119122288G>T Copied from the Exome Variant Server EXT1_000082 1/13004 0/8600 1/4404
1 c.963-45T>C r.(=) p.(=) g.118849485A>G Copied from the Exome Variant Server EXT1_000081 50/13006 0/8600 50/4406
1 c.963-40A>G r.(=) p.(=) g.118849480T>C Copied from the Exome Variant Server EXT1_000080 54/13006 1/8600 53/4406
1 c.963-16C>T r.(=) p.(=) g.118849456G>A Copied from the Exome Variant Server EXT1_000079 3/13006 0/8600 3/4406
1 c.963-14T>G r.(=) p.(=) g.118849454A>C Copied from the Exome Variant Server EXT1_000078 1/13006 1/8600 0/4406
1 c.963G>A r.(=) p.(=) g.118849440C>T Copied from the Exome Variant Server EXT1_000077 1/13006 1/8600 0/4406
1 c.1057-39C>T r.(=) p.(=) g.118847829G>A Copied from the Exome Variant Server EXT1_000076 1/13006 1/8600 0/4406
1 c.1057-38G>T r.(=) p.(=) g.118847828C>A Copied from the Exome Variant Server EXT1_000075 1/13006 1/8600 0/4406
1 c.1057-32C>T r.(=) p.(=) g.118847822G>A Copied from the Exome Variant Server EXT1_000074 77/13006 0/8600 77/4406
1 c.1057-7_1057-6insT r.(=) p.(=) g.118847796_118847797insA Copied from the Exome Variant Server EXT1_000073 1/12518 1/8254 0/4264
1 c.1065C>T r.(=) p.(=) g.118847782G>A Copied from the Exome Variant Server EXT1_000072 3200/13006 2644/8600 556/4406
1 c.1066G>A r.(?) p.(Val356Ile) g.118847781C>T Copied from the Exome Variant Server EXT1_000071 5/13006 4/8600 1/4406
1 c.1135G>A r.(?) p.(Val379Ile) g.118847712C>T Copied from the Exome Variant Server EXT1_000070 1/13006 1/8600 0/4406
1 c.1143C>T r.(=) p.(=) g.118847704G>A Copied from the Exome Variant Server EXT1_000069 1/13006 1/8600 0/4406
1 c.1144G>A r.(?) p.(Asp382Asn) g.118847703C>T Copied from the Exome Variant Server EXT1_000068 1/13006 1/8600 0/4406
1 c.1159T>C r.(=) p.(=) g.118847688A>G Copied from the Exome Variant Server EXT1_000067 2/13006 2/8600 0/4406
1 c.1165-22_1165-21del r.(=) p.(=) g.118842609_118842610del Copied from the Exome Variant Server EXT1_000066 1/12518 1/8254 0/4264
1 c.1175C>T r.(?) p.(Thr392Ile) g.118842578G>A Copied from the Exome Variant Server EXT1_000065 1/13006 1/8600 0/4406
1 c.1259A>G r.(?) p.(Glu420Gly) g.118842494T>C Copied from the Exome Variant Server EXT1_000064 1/13006 0/8600 1/4406
1 c.1284+8A>G r.(=) p.(=) g.118842461T>C Copied from the Exome Variant Server EXT1_000063 1/13006 0/8600 1/4406
1 c.1284+25G>A r.(=) p.(=) g.118842444C>T Copied from the Exome Variant Server EXT1_000062 1/13006 0/8600 1/4406
1 c.1285-43A>G r.(=) p.(=) g.118834879T>C Copied from the Exome Variant Server EXT1_000061 2/13004 2/8598 0/4406
1 c.1285-52_1285-41del r.(=) p.(=) g.118834877_118834888del Copied from the Exome Variant Server EXT1_000060 7/12516 0/8252 7/4264
1 c.1285-37A>T r.(=) p.(=) g.118834873T>A Copied from the Exome Variant Server EXT1_000059 1/13006 1/8600 0/4406
1 c.1319G>A r.(?) p.(Arg440His) g.118834802C>T Copied from the Exome Variant Server EXT1_000058 3/13006 3/8600 0/4406
1 c.1359C>T r.(=) p.(=) g.118834762G>A Copied from the Exome Variant Server EXT1_000057 18/13006 15/8600 3/4406
1 c.1416A>T r.(?) p.(Leu472Phe) g.118834705T>A Copied from the Exome Variant Server EXT1_000056 1/13006 1/8600 0/4406
1 c.1417+47G>A r.(=) p.(=) g.118834657C>T Copied from the Exome Variant Server EXT1_000055 18/13006 0/8600 18/4406
1 c.1418-34G>A r.(=) p.(=) g.118832067C>T Copied from the Exome Variant Server EXT1_000054 2/13006 1/8600 1/4406
1 c.1418-24G>A r.(=) p.(=) g.118832057C>T Copied from the Exome Variant Server EXT1_000053 135/13006 2/8600 133/4406
1 c.1430C>G r.(?) p.(Pro477Arg) g.118832021G>C Copied from the Exome Variant Server EXT1_000052 1/13006 1/8600 0/4406
1 c.1431C>T r.(=) p.(=) g.118832020G>A Copied from the Exome Variant Server EXT1_000051 2137/13006 1670/8600 467/4406
1 c.1457C>T r.(?) p.(Ala486Val) g.118831994G>A Copied from the Exome Variant Server EXT1_000050 1/13006 1/8600 0/4406
1 c.1475C>T r.(?) p.(Ser492Phe) g.118831976G>A Copied from the Exome Variant Server EXT1_000049 1/13006 0/8600 1/4406
1 c.1486C>T r.(?) p.(Pro496Ser) g.118831965G>A Copied from the Exome Variant Server EXT1_000048 2/13006 2/8600 0/4406
1 c.1503C>T r.(=) p.(=) g.118831948G>A Copied from the Exome Variant Server EXT1_000047 1/13006 1/8600 0/4406
1 c.1536+32C>G r.(=) p.(=) g.118831883G>C Copied from the Exome Variant Server EXT1_000046 1/13006 1/8600 0/4406
1 c.1536+38C>G r.(=) p.(=) g.118831877G>C Copied from the Exome Variant Server EXT1_000045 37/13006 0/8600 37/4406
1 c.1537-51A>G r.(=) p.(=) g.118830820T>C Copied from the Exome Variant Server EXT1_000044 6566/13006 4792/8600 1774/4406
1 c.1537-40C>T r.(=) p.(=) g.118830809G>A Copied from the Exome Variant Server EXT1_000043 3/13006 1/8600 2/4406
1 c.1537-31C>G r.(=) p.(=) g.118830800G>C Copied from the Exome Variant Server EXT1_000042 1/13006 1/8600 0/4406
1 c.1537-16G>A r.(=) p.(=) g.118830785C>T Copied from the Exome Variant Server EXT1_000041 3/13006 0/8600 3/4406
1 c.1589_1590insC r.(?) p.(Ala531Cysfs*10) g.118830716_118830717insG Copied from the Exome Variant Server EXT1_000040 27/12518 19/8254 8/4264
1 c.1609G>A r.(?) p.(Val537Ile) g.118830697C>T Copied from the Exome Variant Server EXT1_000039 3/13006 3/8600 0/4406
1 c.1632+9C>T r.(=) p.(=) g.118830665G>A Copied from the Exome Variant Server EXT1_000038 1/13006 0/8600 1/4406
1 c.1632+10G>A r.(=) p.(=) g.118830664C>T Copied from the Exome Variant Server EXT1_000037 1/13006 0/8600 1/4406
1 c.1632+42C>T r.(=) p.(=) g.118830632G>A Copied from the Exome Variant Server EXT1_000036 2/13006 2/8600 0/4406
1 c.1633-52G>A r.(=) p.(=) g.118825252C>T Copied from the Exome Variant Server EXT1_000035 1/7272 0/4618 1/2654
1 c.1633-47C>G r.(=) p.(=) g.118825247G>C Copied from the Exome Variant Server EXT1_000034 1/13004 0/8600 1/4404
1 c.1633-26C>A r.(=) p.(=) g.118825226G>T Copied from the Exome Variant Server EXT1_000033 2/13006 2/8600 0/4406
1 c.1633-24C>T r.(=) p.(=) g.118825224G>A Copied from the Exome Variant Server EXT1_000032 1/13006 1/8600 0/4406
1 c.1633-14C>T r.(=) p.(=) g.118825214G>A Copied from the Exome Variant Server EXT1_000031 1/13006 0/8600 1/4406
1 c.1674A>G r.(=) p.(=) g.118825159T>C Copied from the Exome Variant Server EXT1_000030 2/13006 2/8600 0/4406
1 c.1686C>T r.(=) p.(=) g.118825147G>A Copied from the Exome Variant Server EXT1_000029 1/13006 0/8600 1/4406
1 c.1704G>A r.(=) p.(=) g.118825129C>T Copied from the Exome Variant Server EXT1_000028 1/13006 1/8600 0/4406
1 c.1722+9C>T r.(=) p.(=) g.118825102G>A Copied from the Exome Variant Server EXT1_000027 1/13006 1/8600 0/4406
1 c.1722+35T>C r.(=) p.(=) g.118825076A>G Copied from the Exome Variant Server EXT1_000026 1/13006 0/8600 1/4406
1 c.1722+49C>T r.(=) p.(=) g.118825062G>A Copied from the Exome Variant Server EXT1_000025 1/13006 1/8600 0/4406
1 c.1723-32G>C r.(=) p.(=) g.118819648C>G Copied from the Exome Variant Server EXT1_000024 4/13006 0/8600 4/4406
1 c.1725G>A r.(=) p.(=) g.118819614C>T Copied from the Exome Variant Server EXT1_000023 1/13006 0/8600 1/4406
1 c.1761G>A r.(=) p.(=) g.118819578C>T Copied from the Exome Variant Server EXT1_000022 4566/13006 3631/8600 935/4406
1 c.1779C>T r.(=) p.(=) g.118819560G>A Copied from the Exome Variant Server EXT1_000021 8/13006 7/8600 1/4406
1 c.1781C>G r.(?) p.(Ala594Gly) g.118819558G>C Copied from the Exome Variant Server EXT1_000020 1/13006 1/8600 0/4406
1 c.1782G>A r.(=) p.(=) g.118819557C>T Copied from the Exome Variant Server EXT1_000019 10/13006 9/8600 1/4406
1 c.1795T>G r.(?) p.(Trp599Gly) g.118819544A>C Copied from the Exome Variant Server EXT1_000018 1/13006 1/8600 0/4406
1 c.1801A>G r.(?) p.(Asn601Asp) g.118819538T>C Copied from the Exome Variant Server EXT1_000017 1/13006 0/8600 1/4406
1 c.1813C>T r.(?) p.(Arg605Trp) g.118819526G>A Copied from the Exome Variant Server EXT1_000016 1/13006 0/8600 1/4406
1 c.1883+14A>G r.(=) p.(=) g.118819442T>C Copied from the Exome Variant Server EXT1_000015 2/13006 0/8600 2/4406
1 c.1884-48C>T r.(=) p.(=) g.118817180G>A Copied from the Exome Variant Server EXT1_000014 1/13006 1/8600 0/4406
1 c.1884-47A>G r.(=) p.(=) g.118817179T>C Copied from the Exome Variant Server EXT1_000013 1/13006 1/8600 0/4406
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