Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.88077166T>CCA606453512CEP290c.5709+56A>G (p.=)
c.6570+56A>G (p.=)
c.5802+56A>G (p.=)
c.5031+56A>G (p.=)
n.968-5147T>C
c.5688+56A>G (p.=)
n.6914+56A>G
n.5715+56A>G (p.=)
c.2889+56A>G (p.=)
gnomAD
12g.88077172T>GCA6711665CEP290c.5709+50A>C (p.=)
c.6570+50A>C (p.=)
c.5802+50A>C (p.=)
c.5031+50A>C (p.=)
n.968-5141T>G
c.5688+50A>C (p.=)
n.6914+50A>C
n.5715+50A>C (p.=)
c.2889+50A>C (p.=)
dbSNP ExAC
12g.88077174A>TCA241152981CEP290c.5709+48T>A (p.=)
c.6570+48T>A (p.=)
c.5802+48T>A (p.=)
c.5031+48T>A (p.=)
n.968-5139A>T
c.5688+48T>A (p.=)
n.6914+48T>A
n.5715+48T>A (p.=)
c.2889+48T>A (p.=)
dbSNP
12g.88077177C>ACA606453513CEP290c.5709+45G>T (p.=)
c.6570+45G>T (p.=)
c.5802+45G>T (p.=)
c.5031+45G>T (p.=)
n.968-5136C>A
c.5688+45G>T (p.=)
n.6914+45G>T
n.5715+45G>T (p.=)
c.2889+45G>T (p.=)
gnomAD
12g.88077177C>GCA150921CEP290c.5709+45G>C (p.=)
c.6570+45G>C (p.=)
c.5802+45G>C (p.=)
c.5031+45G>C (p.=)
n.968-5136C>G
c.5688+45G>C (p.=)
n.6914+45G>C
n.5715+45G>C (p.=)
c.2889+45G>C (p.=)
ClinVar dbSNP ExAC gnomAD
12g.88077177C>TCA606453514CEP290c.5709+45G>A (p.=)
c.6570+45G>A (p.=)
c.5802+45G>A (p.=)
c.5031+45G>A (p.=)
n.968-5136C>T
c.5688+45G>A (p.=)
n.6914+45G>A
n.5715+45G>A (p.=)
c.2889+45G>A (p.=)
gnomAD
12g.88077178T>CCA6711666CEP290c.5709+44A>G (p.=)
c.6570+44A>G (p.=)
c.5802+44A>G (p.=)
c.5031+44A>G (p.=)
n.968-5135T>C
c.5688+44A>G (p.=)
n.6914+44A>G
n.5715+44A>G (p.=)
c.2889+44A>G (p.=)
dbSNP ExAC gnomAD
12g.88077179G>ACA6711667CEP290c.5709+43C>T (p.=)
c.6570+43C>T (p.=)
c.5802+43C>T (p.=)
c.5031+43C>T (p.=)
n.968-5134G>A
c.5688+43C>T (p.=)
n.6914+43C>T
n.5715+43C>T (p.=)
c.2889+43C>T (p.=)
dbSNP ExAC gnomAD
12g.88077181C>TCA6711668CEP290c.5709+41G>A (p.=)
c.6570+41G>A (p.=)
c.5802+41G>A (p.=)
c.5031+41G>A (p.=)
n.968-5132C>T
c.5688+41G>A (p.=)
n.6914+41G>A
n.5715+41G>A (p.=)
c.2889+41G>A (p.=)
dbSNP ExAC gnomAD
12g.88077182A>GCA693051787CEP290c.5709+40T>C (p.=)
c.6570+40T>C (p.=)
c.5802+40T>C (p.=)
c.5031+40T>C (p.=)
n.968-5131A>G
c.5688+40T>C (p.=)
n.6914+40T>C
n.5715+40T>C (p.=)
c.2889+40T>C (p.=)
12g.88077185A>GCA6711669CEP290c.5709+37T>C (p.=)
c.6570+37T>C (p.=)
c.5802+37T>C (p.=)
c.5031+37T>C (p.=)
n.968-5128A>G
c.5688+37T>C (p.=)
n.6914+37T>C
n.5715+37T>C (p.=)
c.2889+37T>C (p.=)
dbSNP ExAC gnomAD
12g.88077186C>TCA950219557CEP290c.5709+36G>A (p.=)
c.6570+36G>A (p.=)
c.5802+36G>A (p.=)
c.5031+36G>A (p.=)
n.968-5127C>T
c.5688+36G>A (p.=)
n.6914+36G>A
n.5715+36G>A (p.=)
c.2889+36G>A (p.=)
12g.88077192G>ACA6711670CEP290c.5709+30C>T (p.=)
c.6570+30C>T (p.=)
c.5802+30C>T (p.=)
c.5031+30C>T (p.=)
n.968-5121G>A
c.5688+30C>T (p.=)
n.6914+30C>T
n.5715+30C>T (p.=)
c.2889+30C>T (p.=)
dbSNP ExAC gnomAD
12g.88077193C>TCA606453515CEP290c.5709+29G>A (p.=)
c.6570+29G>A (p.=)
c.5802+29G>A (p.=)
c.5031+29G>A (p.=)
n.968-5120C>T
c.5688+29G>A (p.=)
n.6914+29G>A
n.5715+29G>A (p.=)
c.2889+29G>A (p.=)
gnomAD
12g.88077196A>GCA6711671CEP290c.5709+26T>C (p.=)
c.6570+26T>C (p.=)
c.5802+26T>C (p.=)
c.5031+26T>C (p.=)
n.968-5117A>G
c.5688+26T>C (p.=)
n.6914+26T>C
n.5715+26T>C (p.=)
c.2889+26T>C (p.=)
dbSNP ExAC gnomAD
12g.88077197T>GCA150920CEP290c.5709+25A>C (p.=)
c.6570+25A>C (p.=)
c.5802+25A>C (p.=)
c.5031+25A>C (p.=)
n.968-5116T>G
c.5688+25A>C (p.=)
n.6914+25A>C
n.5715+25A>C (p.=)
c.2889+25A>C (p.=)
ClinVar dbSNP ExAC gnomAD
12g.88077198A>GCA6711672CEP290c.5709+24T>C (p.=)
c.6570+24T>C (p.=)
c.5802+24T>C (p.=)
c.5031+24T>C (p.=)
n.968-5115A>G
c.5688+24T>C (p.=)
n.6914+24T>C
n.5715+24T>C (p.=)
c.2889+24T>C (p.=)
dbSNP ExAC gnomAD
12g.88077203A>TCA693051805CEP290c.5709+19T>A (p.=)
c.6570+19T>A (p.=)
c.5802+19T>A (p.=)
c.5031+19T>A (p.=)
n.968-5110A>T
c.5688+19T>A (p.=)
n.6914+19T>A
n.5715+19T>A (p.=)
c.2889+19T>A (p.=)
12g.88077204G>TCA150919CEP290c.5709+18C>A (p.=)
c.6570+18C>A (p.=)
c.5802+18C>A (p.=)
c.5031+18C>A (p.=)
n.968-5109G>T
c.5688+18C>A (p.=)
n.6914+18C>A
n.5715+18C>A (p.=)
c.2889+18C>A (p.=)
ClinVar dbSNP ExAC gnomAD
12g.88077210T>ACA241153065CEP290c.5709+12A>T (p.=)
c.6570+12A>T (p.=)
c.5802+12A>T (p.=)
c.5031+12A>T (p.=)
n.968-5103T>A
c.5688+12A>T (p.=)
n.6914+12A>T
n.5715+12A>T (p.=)
c.2889+12A>T (p.=)
dbSNP
12g.88077210T>CCA6711673CEP290c.5709+12A>G (p.=)
c.6570+12A>G (p.=)
c.5802+12A>G (p.=)
c.5031+12A>G (p.=)
n.968-5103T>C
c.5688+12A>G (p.=)
n.6914+12A>G
n.5715+12A>G (p.=)
c.2889+12A>G (p.=)
ClinVar dbSNP ExAC gnomAD
12g.88077212C>TCA241153087CEP290c.5709+10G>A (p.=)
c.6570+10G>A (p.=)
c.5802+10G>A (p.=)
c.5031+10G>A (p.=)
n.968-5101C>T
c.5688+10G>A (p.=)
n.6914+10G>A
n.5715+10G>A (p.=)
c.2889+10G>A (p.=)
dbSNP gnomAD
12g.88077216A>CCA950219564CEP290c.5709+6T>G (p.=)
c.6570+6T>G (p.=)
c.5802+6T>G (p.=)
c.5031+6T>G (p.=)
n.968-5097A>C
c.5688+6T>G (p.=)
n.6914+6T>G
n.5715+6T>G (p.=)
c.2889+6T>G (p.=)
12g.88077217C>TCA950219566CEP290c.5709+5G>A (p.=)
c.6570+5G>A (p.=)
c.5802+5G>A (p.=)
c.5031+5G>A (p.=)
n.968-5096C>T
c.5688+5G>A (p.=)
n.6914+5G>A
n.5715+5G>A (p.=)
c.2889+5G>A (p.=)
12g.88077220A>CCA385987155CEP290c.5709+2T>G (p.=)
c.6570+2T>G (p.=)
c.5802+2T>G (p.=)
c.5031+2T>G (p.=)
n.968-5093A>C
c.5688+2T>G (p.=)
n.6914+2T>G
n.5715+2T>G (p.=)
c.2889+2T>G (p.=)
12g.88077220A>GCA385987153CEP290c.5709+2T>C (p.=)
c.6570+2T>C (p.=)
c.5802+2T>C (p.=)
c.5031+2T>C (p.=)
n.968-5093A>G
c.5688+2T>C (p.=)
n.6914+2T>C
n.5715+2T>C (p.=)
c.2889+2T>C (p.=)
12g.88077220A>TCA385987149CEP290c.5709+2T>A (p.=)
c.6570+2T>A (p.=)
c.5802+2T>A (p.=)
c.5031+2T>A (p.=)
n.968-5093A>T
c.5688+2T>A (p.=)
n.6914+2T>A
n.5715+2T>A (p.=)
c.2889+2T>A (p.=)
12g.88077221C>ACA6711674CEP290c.5709+1G>T (p.=)
c.6570+1G>T (p.=)
c.5802+1G>T (p.=)
c.5031+1G>T (p.=)
n.968-5092C>A
c.5688+1G>T (p.=)
n.6914+1G>T
n.5715+1G>T (p.=)
c.2889+1G>T (p.=)
dbSNP ExAC gnomAD
12g.88077221C>GCA6711676CEP290c.5709+1G>C (p.=)
c.6570+1G>C (p.=)
c.5802+1G>C (p.=)
c.5031+1G>C (p.=)
n.968-5092C>G
c.5688+1G>C (p.=)
n.6914+1G>C
n.5715+1G>C (p.=)
c.2889+1G>C (p.=)
dbSNP ExAC gnomAD
12g.88077221C>TCA6711675CEP290c.5709+1G>A (p.=)
c.6570+1G>A (p.=)
c.5802+1G>A (p.=)
c.5031+1G>A (p.=)
n.968-5092C>T
c.5688+1G>A (p.=)
n.6914+1G>A
n.5715+1G>A (p.=)
c.2889+1G>A (p.=)
dbSNP ExAC gnomAD
12g.88077222C>ACA385987160CEP290c.5709G>T (p.Lys1903Asn)
c.6570G>T (p.Lys2190Asn)
c.5802G>T (p.Lys1934Asn)
c.5031G>T (p.Lys1677Asn)
n.968-5091C>A
c.5688G>T (p.Lys1896Asn)
n.6914G>T
n.5715G>T (p.Lys1905Asn)
c.2889G>T (p.Lys963Asn)
12g.88077222C>GCA385987161CEP290c.5709G>C (p.Lys1903Asn)
c.6570G>C (p.Lys2190Asn)
c.5802G>C (p.Lys1934Asn)
c.5031G>C (p.Lys1677Asn)
n.968-5091C>G
c.5688G>C (p.Lys1896Asn)
n.6914G>C
n.5715G>C (p.Lys1905Asn)
c.2889G>C (p.Lys963Asn)
12g.88077222C>TCA481072135CEP290c.5709G>A (p.Lys1903=)
c.6570G>A (p.Lys2190=)
c.5802G>A (p.Lys1934=)
c.5031G>A (p.Lys1677=)
n.968-5091C>T
c.5688G>A (p.Lys1896=)
n.6914G>A
n.5715G>A (p.Lys1905=)
c.2889G>A (p.Lys963=)
gnomAD
12g.88077223T>ACA385987164CEP290c.5708A>T (p.Lys1903Met)
c.6569A>T (p.Lys2190Met)
c.5801A>T (p.Lys1934Met)
c.5030A>T (p.Lys1677Met)
n.968-5090T>A
c.5687A>T (p.Lys1896Met)
n.6913A>T
n.5714A>T (p.Lys1905Met)
c.2888A>T (p.Lys963Met)
12g.88077223T>CCA385987170CEP290c.5708A>G (p.Lys1903Arg)
c.6569A>G (p.Lys2190Arg)
c.5801A>G (p.Lys1934Arg)
c.5030A>G (p.Lys1677Arg)
n.968-5090T>C
c.5687A>G (p.Lys1896Arg)
n.6913A>G
n.5714A>G (p.Lys1905Arg)
c.2888A>G (p.Lys963Arg)
12g.88077223T>GCA385987168CEP290c.5708A>C (p.Lys1903Thr)
c.6569A>C (p.Lys2190Thr)
c.5801A>C (p.Lys1934Thr)
c.5030A>C (p.Lys1677Thr)
n.968-5090T>G
c.5687A>C (p.Lys1896Thr)
n.6913A>C
n.5714A>C (p.Lys1905Thr)
c.2888A>C (p.Lys963Thr)
12g.88077224T>ACA10583996CEP290c.5707A>T (p.Lys1903Ter)
c.6568A>T (p.Lys2190Ter)
c.5800A>T (p.Lys1934Ter)
c.5029A>T (p.Lys1677Ter)
n.968-5089T>A
c.5686A>T (p.Lys1896Ter)
n.6912A>T
n.5713A>T (p.Lys1905Ter)
c.2887A>T (p.Lys963Ter)
ClinVar dbSNP
12g.88077224T>CCA385987173CEP290c.5707A>G (p.Lys1903Glu)
c.6568A>G (p.Lys2190Glu)
c.5800A>G (p.Lys1934Glu)
c.5029A>G (p.Lys1677Glu)
n.968-5089T>C
c.5686A>G (p.Lys1896Glu)
n.6912A>G
n.5713A>G (p.Lys1905Glu)
c.2887A>G (p.Lys963Glu)
gnomAD
12g.88077224T>GCA385987179CEP290c.5707A>C (p.Lys1903Gln)
c.6568A>C (p.Lys2190Gln)
c.5800A>C (p.Lys1934Gln)
c.5029A>C (p.Lys1677Gln)
n.968-5089T>G
c.5686A>C (p.Lys1896Gln)
n.6912A>C
n.5713A>C (p.Lys1905Gln)
c.2887A>C (p.Lys963Gln)
12g.88077225T>ACA385987182CEP290c.5706A>T (p.Glu1902Asp)
c.6567A>T (p.Glu2189Asp)
c.5799A>T (p.Glu1933Asp)
c.5028A>T (p.Glu1676Asp)
n.968-5088T>A
c.5685A>T (p.Glu1895Asp)
n.6911A>T
n.5712A>T (p.Glu1904Asp)
c.2886A>T (p.Glu962Asp)
12g.88077225T>CCA481072136CEP290c.5706A>G (p.Glu1902=)
c.6567A>G (p.Glu2189=)
c.5799A>G (p.Glu1933=)
c.5028A>G (p.Glu1676=)
n.968-5088T>C
c.5685A>G (p.Glu1895=)
n.6911A>G
n.5712A>G (p.Glu1904=)
c.2886A>G (p.Glu962=)
12g.88077225T>GCA385987184CEP290c.5706A>C (p.Glu1902Asp)
c.6567A>C (p.Glu2189Asp)
c.5799A>C (p.Glu1933Asp)
c.5028A>C (p.Glu1676Asp)
n.968-5088T>G
c.5685A>C (p.Glu1895Asp)
n.6911A>C
n.5712A>C (p.Glu1904Asp)
c.2886A>C (p.Glu962Asp)
12g.88077226T>ACA385987187CEP290c.5705A>T (p.Glu1902Val)
c.6566A>T (p.Glu2189Val)
c.5798A>T (p.Glu1933Val)
c.5027A>T (p.Glu1676Val)
n.968-5087T>A
c.5684A>T (p.Glu1895Val)
n.6910A>T
n.5711A>T (p.Glu1904Val)
c.2885A>T (p.Glu962Val)
12g.88077226T>CCA385987191CEP290c.5705A>G (p.Glu1902Gly)
c.6566A>G (p.Glu2189Gly)
c.5798A>G (p.Glu1933Gly)
c.5027A>G (p.Glu1676Gly)
n.968-5087T>C
c.5684A>G (p.Glu1895Gly)
n.6910A>G
n.5711A>G (p.Glu1904Gly)
c.2885A>G (p.Glu962Gly)
12g.88077226T>GCA385987206CEP290c.5705A>C (p.Glu1902Ala)
c.6566A>C (p.Glu2189Ala)
c.5798A>C (p.Glu1933Ala)
c.5027A>C (p.Glu1676Ala)
n.968-5087T>G
c.5684A>C (p.Glu1895Ala)
n.6910A>C
n.5711A>C (p.Glu1904Ala)
c.2885A>C (p.Glu962Ala)
12g.88077227C>ACA251753CEP290c.5704G>T (p.Glu1902Ter)
c.6565G>T (p.Glu2189Ter)
c.5797G>T (p.Glu1933Ter)
c.5026G>T (p.Glu1676Ter)
n.968-5086C>A
c.5683G>T (p.Glu1895Ter)
n.6909G>T
n.5710G>T (p.Glu1904Ter)
c.2884G>T (p.Glu962Ter)
ClinVar dbSNP
12g.88077227C>GCA385987212CEP290c.5704G>C (p.Glu1902Gln)
c.6565G>C (p.Glu2189Gln)
c.5797G>C (p.Glu1933Gln)
c.5026G>C (p.Glu1676Gln)
n.968-5086C>G
c.5683G>C (p.Glu1895Gln)
n.6909G>C
n.5710G>C (p.Glu1904Gln)
c.2884G>C (p.Glu962Gln)
12g.88077227C>TCA385987210CEP290c.5704G>A (p.Glu1902Lys)
c.6565G>A (p.Glu2189Lys)
c.5797G>A (p.Glu1933Lys)
c.5026G>A (p.Glu1676Lys)
n.968-5086C>T
c.5683G>A (p.Glu1895Lys)
n.6909G>A
n.5710G>A (p.Glu1904Lys)
c.2884G>A (p.Glu962Lys)
12g.88077228T>ACA385987216CEP290c.5703A>T (p.Lys1901Asn)
c.6564A>T (p.Lys2188Asn)
c.5796A>T (p.Lys1932Asn)
c.5025A>T (p.Lys1675Asn)
n.968-5085T>A
c.5682A>T (p.Lys1894Asn)
n.6908A>T
n.5709A>T (p.Lys1903Asn)
c.2883A>T (p.Lys961Asn)
12g.88077228T>CCA481072137CEP290c.5703A>G (p.Lys1901=)
c.6564A>G (p.Lys2188=)
c.5796A>G (p.Lys1932=)
c.5025A>G (p.Lys1675=)
n.968-5085T>C
c.5682A>G (p.Lys1894=)
n.6908A>G
n.5709A>G (p.Lys1903=)
c.2883A>G (p.Lys961=)

Number of alleles fetched