Unique variants in gene SLX4

Information The variants shown are described using the NM_032444.2 transcript reference sequence.

167 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-39C>G r.(=) p.(=) g.3659004G>C - SLX4_000152 - - - - Despoina Kalfakakou
./. 1 - c.13G>A r.(?) p.(Val5Met) g.3658953C>T - SLX4_000054 - - - - Despoina Kalfakakou
./. 1 - c.70C>T r.(?) p.(Pro24Ser) g.3658896G>A - SLX4_000110 - - - - Despoina Kalfakakou
./. 1 - c.71C>T r.(?) p.(Pro24Leu) g.3658895G>A - SLX4_000087 - - - - Despoina Kalfakakou
./. 5 - c.85C>T r.(?) p.(Arg29Cys) g.3658881G>A - SLX4_000080 - - - - Despoina Kalfakakou
./. 1 - c.86G>A r.(?) p.(Arg29His) g.3658880C>T - SLX4_000109 - - - - Despoina Kalfakakou
./. 60 - c.90C>T r.(=) p.(=) g.3658876G>A - SLX4_000010 - - - - Despoina Kalfakakou
./. 1 - c.100C>T r.(?) p.(Gln34*) g.3658866G>A - SLX4_000079 - - - - Despoina Kalfakakou
./. 1 - c.111C>A r.(?) p.(Ser37Arg) g.3658855G>T - SLX4_000134 - - - - Despoina Kalfakakou
./. 1 - c.112C>T r.(?) p.(Leu38Phe) g.3658854G>A - SLX4_000115 - - - - Despoina Kalfakakou
./. 1 - c.145G>A r.(?) p.(Glu49Lys) g.3658821C>T - SLX4_000121 - - - - Despoina Kalfakakou
./. 1 - c.165C>T r.(=) p.(=) g.3658801G>A - SLX4_000112 - - - - Despoina Kalfakakou
./. 2 - c.192A>G r.(=) p.(=) g.3658774T>C - SLX4_000026 - - - - Despoina Kalfakakou
./. 2 - c.217G>C r.(?) p.(Glu73Gln) g.3658749C>G - SLX4_000004 - - - - Despoina Kalfakakou
./. 1 - c.244A>G r.(?) p.(Asn82Asp) g.3658722T>C - SLX4_000009 - - - - Despoina Kalfakakou
./. 2 - c.261_263del r.(?) p.(Arg87del) g.3658703_3658705del - SLX4_000057 - - - - Despoina Kalfakakou
./. 1 - c.299C>A r.(?) p.(Thr100Asn) g.3658667G>T - SLX4_000131 - - - - Despoina Kalfakakou
./. 1 - c.336G>A r.(=) p.(=) g.3658630C>T - SLX4_000133 rs79126454 - - - Despoina Kalfakakou
./. 1 - c.398C>T r.(?) p.(Pro133Leu) g.3658568G>A - SLX4_000025 - - - - Despoina Kalfakakou
./. 1 - c.399G>A r.(=) p.(=) g.3658567C>T - SLX4_000111 - - - - Despoina Kalfakakou
./. 2 - c.421G>T r.(?) p.(Gly141Trp) g.3658545C>A - SLX4_000056 - - - - Despoina Kalfakakou
./. 1 - c.465A>G r.(=) p.(=) g.3658501T>C - SLX4_000024 - - - - Despoina Kalfakakou
./. 4 - c.506C>T r.(?) p.(Ser169Leu) g.3658460G>A - SLX4_000023 - - - - Despoina Kalfakakou
./. 1 - c.518C>G r.(?) p.(Ser173Cys) g.3658448G>C - SLX4_000093 - - - - Despoina Kalfakakou
./. 2 - c.553G>A r.(?) p.(Asp185Asn) g.3656682C>T - SLX4_000022 - - - - Despoina Kalfakakou
./. 1 - c.582A>G r.(=) p.(=) g.3656653T>C - SLX4_000122 - - - - Despoina Kalfakakou
./. 11 - c.590T>C r.(?) p.(Val197Ala) g.3656645A>G - SLX4_000008 - - - - Despoina Kalfakakou
./. 1 - c.634C>G r.(?) p.(Arg212Gly) g.3656601G>C - SLX4_000078 - - - - Despoina Kalfakakou
./. 4 - c.710G>A r.(?) p.(Arg237Gln) g.3656525C>T - SLX4_000040 - - - - Despoina Kalfakakou
./. 1 - c.734C>T r.(?) p.(Pro245Leu) g.3656501G>A - SLX4_000007 - - - - Despoina Kalfakakou
./. 4 - c.742G>A r.(?) p.(Glu248Lys) g.3656493C>T - SLX4_000048 - - - - Despoina Kalfakakou
./. 1 - c.806C>T r.(?) p.(Ala269Val) g.3652263G>A - SLX4_000003 - - - - Despoina Kalfakakou
./. 6 - c.833G>A r.(?) p.(Arg278Gln) g.3652236C>T - SLX4_000021 - - - - Despoina Kalfakakou
./. 1 - c.874G>A r.(?) p.(Gly292Ser) g.3652195C>T - SLX4_000151 - - - - Despoina Kalfakakou
./. 1 - c.894T>G r.(?) p.(Ile298Met) g.3652175A>C - SLX4_000072 - - - - Despoina Kalfakakou
./. 1 - c.950+40A>G r.(=) p.(=) g.3652079T>C - SLX4_000150 - - - - Despoina Kalfakakou
./. 1 - c.951-32G>C r.(=) p.(=) g.3651224C>G - SLX4_000129 - - - - Despoina Kalfakakou
./. 1 - c.951-13T>C r.(=) p.(=) g.3651205A>G - SLX4_000144 - - - - Despoina Kalfakakou
./. 1 - c.996G>T r.(?) p.(Gln332His) g.3651147C>A - SLX4_000084 - - - - Despoina Kalfakakou
./. 1 - c.999C>T r.(=) p.(=) g.3651144G>A - SLX4_000163 rs7198338 - - - Despoina Kalfakakou
./. 1 - c.1010C>T r.(?) p.(Pro337Leu) g.3651133G>A - SLX4_000119 - - - - Despoina Kalfakakou
./. 1 - c.1011G>A r.(=) p.(=) g.3651132C>T - SLX4_000157 - - - - Despoina Kalfakakou
./. 1 - c.1065G>A r.(=) p.(=) g.3651078C>T - SLX4_000055 - - - - Despoina Kalfakakou
./. 2 - c.1077G>T r.(?) p.(Lys359Asn) g.3651066C>A - SLX4_000006 - - - - Despoina Kalfakakou
./. 1 - c.1163+3A>G r.spl? p.? g.3650977T>C - SLX4_000113 - - - - Despoina Kalfakakou
./. 1 - c.1164-49G>C r.(=) p.(=) g.3648049C>G - SLX4_000086 - - - - Despoina Kalfakakou
./. 1 - c.1164-15T>G r.(=) p.(=) g.3648015A>C - SLX4_000039 - - - - Despoina Kalfakakou
./. 1 - c.1168A>G r.(?) p.(Ser390Gly) g.3647996T>C - SLX4_000092 - - - - Despoina Kalfakakou
./. 1 - c.1200_1202del r.(?) p.(Pro401del) g.3647962_3647964del - SLX4_000071 - - - - Despoina Kalfakakou
./. 1 - c.1204A>T r.(?) p.(Thr402Ser) g.3647960T>A - SLX4_000070 - - - - Despoina Kalfakakou
./. 1 - c.1232G>A r.(?) p.(Arg411Gln) g.3647932C>T - SLX4_000005 - - - - Despoina Kalfakakou
./. 1 - c.1251G>A r.(=) p.(=) g.3647913C>T - SLX4_000124 - - - - Despoina Kalfakakou
./. 1 - c.1302G>A r.(=) p.(=) g.3647862C>T - SLX4_000160 - - - - Despoina Kalfakakou
./. 1 - c.1307C>G r.(?) p.(Ala436Gly) g.3647857G>C - SLX4_000167 - - - - Despoina Kalfakakou
./. 1 - c.1307C>T r.(?) p.(Ala436Val) g.3647857G>A - SLX4_000067 - - - - Despoina Kalfakakou
./. 1 - c.1358C>G r.(?) p.(Pro453Arg) g.3647806G>C - SLX4_000069 - - - - Despoina Kalfakakou
./. 1 - c.1366+49C>T r.(=) p.(=) g.3647749G>A - SLX4_000089 - - - - Despoina Kalfakakou
./. 4 - c.1366+51G>A r.(=) p.(=) g.3647747C>T - SLX4_000108 - - - - Despoina Kalfakakou
./. 2 - c.1367-44G>T r.(=) p.(=) g.3647740C>A - SLX4_000066 - - - - Despoina Kalfakakou
./. 1 - c.1367-31C>T r.(=) p.(=) g.3647727G>A - SLX4_000038 rs77529764 - - - Despoina Kalfakakou
./. 1 - c.1367-30G>A r.(=) p.(=) g.3647726C>T - SLX4_000107 - - - - Despoina Kalfakakou
./. 2 - c.1372A>G r.(?) p.(Lys458Glu) g.3647691T>C - SLX4_000065 - - - - Despoina Kalfakakou
./. 1 - c.1394C>T r.(?) p.(Pro465Leu) g.3647669G>A - SLX4_000020 - - - - Despoina Kalfakakou
./. 1 - c.1405C>T r.(?) p.(Pro469Ser) g.3647658G>A - SLX4_000037 - - - - Despoina Kalfakakou
./. 1 - c.1470C>T r.(=) p.(=) g.3647593G>A - SLX4_000164 - - - - Despoina Kalfakakou
./. 1 - c.1499C>T r.(?) p.(Thr500Met) g.3647564G>A - SLX4_000117 - - - - Despoina Kalfakakou
./. 1 - c.1545A>G r.(=) p.(=) g.3647518T>C - SLX4_000166 - - - - Despoina Kalfakakou
./. 4 - c.1641G>A r.(=) p.(=) g.3647422C>T - SLX4_000077 - - - - Despoina Kalfakakou
./. 4 - c.1672C>T r.(?) p.(Arg558Trp) g.3647391G>A - SLX4_000036 - - - - Despoina Kalfakakou
./. 3 - c.1684-18C>T r.(=) p.(=) g.3646412G>A - SLX4_000068 - - - - Despoina Kalfakakou
./. 1 - c.1684-14C>G r.(=) p.(=) g.3646408G>C - SLX4_000143 - - - - Despoina Kalfakakou
./. 1 - c.1702G>A r.(?) p.(Val568Met) g.3646376C>T - SLX4_000165 - - - - Despoina Kalfakakou
./. 1 - c.1748G>C r.(?) p.(Arg583Thr) g.3646330C>G - SLX4_000139 - - - - Despoina Kalfakakou
./. 27 - c.1755C>T r.(=) p.(=) g.3646323G>A - SLX4_000002 - - - - Despoina Kalfakakou
./. 27 - c.1803G>A r.(=) p.(=) g.3646275C>T - SLX4_000001 - - - - Despoina Kalfakakou
./. 4 - c.1809G>A r.(=) p.(=) g.3646269C>T - SLX4_000035 - - - - Despoina Kalfakakou
./. 1 - c.1898G>A r.(?) p.(Gly633Asp) g.3646180C>T - SLX4_000064 rs1056085 - - - Despoina Kalfakakou
./. 1 - c.1924+19C>A r.(=) p.(=) g.3646135G>T - SLX4_000095 - - - - Despoina Kalfakakou
./. 1 - c.1925-51_1925-49del r.(=) p.(=) g.3645743_3645745del - SLX4_000103 - - - - Despoina Kalfakakou
./. 27 - c.1925-30G>A r.(=) p.(=) g.3645724C>T - SLX4_000019 - - - - Despoina Kalfakakou
./. 1 - c.1932C>T r.(=) p.(=) g.3645687G>A - SLX4_000135 - - - - Despoina Kalfakakou
./. 12 - c.2006G>A r.(?) p.(Arg669His) g.3645613C>T - SLX4_000049 - - - - Despoina Kalfakakou
./. 2 - c.2013+21G>A r.(=) p.(=) g.3645585C>T - SLX4_000090 - - - - Despoina Kalfakakou
./. 1 - c.2014-35G>A r.(=) p.(=) g.3644635C>T - SLX4_000123 - - - - Despoina Kalfakakou
./. 1 - c.2014-5T>C r.spl? p.? g.3644605A>G - SLX4_000096 - - - - Despoina Kalfakakou
./. 1 - c.2023G>C r.(?) p.(Gly675Arg) g.3644591C>G - SLX4_000128 - - - - Despoina Kalfakakou
./. 1 - c.2057A>G r.(?) p.(Asn686Ser) g.3644557T>C - SLX4_000034 - - - - Despoina Kalfakakou
./. 1 - c.2118C>T r.(=) p.(=) g.3644496G>A - SLX4_000158 - - - - Despoina Kalfakakou
./. 1 - c.2124C>T r.(=) p.(=) g.3644490G>A - SLX4_000047 - - - - Despoina Kalfakakou
./. 1 - c.2160+23G>A r.(=) p.(=) g.3644431C>T - SLX4_000063 - - - - Despoina Kalfakakou
./. 2 - c.2160+24C>A r.(=) p.(=) g.3644430G>T - SLX4_000062 - - - - Despoina Kalfakakou
./. 1 - c.2160+41T>C r.(=) p.(=) g.3644413A>G - SLX4_000082 - - - - Despoina Kalfakakou
./. 1 - c.2193C>T r.(=) p.(=) g.3642834G>A - SLX4_000138 - - - - Despoina Kalfakakou
./. 1 - c.2242G>A r.(?) p.(Ala748Thr) g.3642785C>T - SLX4_000127 - - - - Despoina Kalfakakou
./. 1 - c.2327+37G>A r.(=) p.(=) g.3642663C>T - SLX4_000159 - - - - Despoina Kalfakakou
./. 24 - c.2359G>A r.(?) p.(Glu787Lys) g.3641280C>T - SLX4_000043 - - - - Despoina Kalfakakou
./. 1 - c.2490G>A r.(=) p.(=) g.3641149C>T - SLX4_000146 - - - - Despoina Kalfakakou
./. 1 - c.2499G>C r.(?) p.(Leu833Phe) g.3641140C>G - SLX4_000073 - - - - Despoina Kalfakakou
./. 1 - c.2579C>T r.(?) p.(Thr860Ile) g.3641060G>A - SLX4_000081 - - - - Despoina Kalfakakou
./. 1 - c.2609C>T r.(?) p.(Ala870Val) g.3641030G>A - SLX4_000155 - - - - Despoina Kalfakakou
Legend   « First ‹ Prev     1 2     Next › Last »