Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.28093424dup | CA616699810 | OCA2 | c.-22+5812dup (n.-22+5812dup) c.-22+5699dup (n.-22+5699dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093423_28093424dup | CA968019043 | OCA2 | c.-22+5811_-22+5812dup (n.-22+5811_-22+5812dup) c.-22+5698_-22+5699dup (n.-22+5698_-22+5699dup) | gnomAD v3 gnomAD v4 |
15 | g.28093424del | CA267898286 | OCA2 | c.-22+5812del (n.-22+5812del) c.-22+5699del (n.-22+5699del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093423_28093424del | CA616699808 | OCA2 | c.-22+5811_-22+5812del (n.-22+5811_-22+5812del) c.-22+5698_-22+5699del (n.-22+5698_-22+5699del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093422_28093424del | CA616699807 | OCA2 | c.-22+5810_-22+5812del (n.-22+5810_-22+5812del) c.-22+5697_-22+5699del (n.-22+5697_-22+5699del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093421_28093424del | CA968019032 | OCA2 | c.-22+5809_-22+5812del (n.-22+5809_-22+5812del) c.-22+5696_-22+5699del (n.-22+5696_-22+5699del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093420_28093424del | CA968019031 | OCA2 | c.-22+5808_-22+5812del (n.-22+5808_-22+5812del) c.-22+5695_-22+5699del (n.-22+5695_-22+5699del) | gnomAD v3 gnomAD v4 |
15 | g.28093418_28093433delinsAAAAAAAGAAAGAAAG | CA2166468375 | OCA2 | c.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT (n.-22+5791_-22+5806delinsCTTTCTTTCTTTTTTT) c.-22+5678_-22+5693delinsCTTTCTTTCTTTTTTT (n.-22+5678_-22+5693delinsCTTTCTTTCTTTTTTT) | |
15 | g.28093429_28093443del | CA616699811 | OCA2 | c.-22+5791_-22+5805del (n.-22+5791_-22+5805del) c.-22+5678_-22+5692del (n.-22+5678_-22+5692del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093420_28093425delinsAAAAAG | CA2166468390 | OCA2 | c.-22+5799_-22+5804delinsCTTTTT (n.-22+5799_-22+5804delinsCTTTTT) c.-22+5686_-22+5691delinsCTTTTT (n.-22+5686_-22+5691delinsCTTTTT) | |
15 | g.28093424_28093428del | CA711753353 | OCA2 | c.-22+5799_-22+5803del (n.-22+5799_-22+5803del) c.-22+5686_-22+5690del (n.-22+5686_-22+5690del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093421_28093429delinsAAAAGAAAG | CA2166468402 | OCA2 | c.-22+5795_-22+5803delinsCTTTCTTTT (n.-22+5795_-22+5803delinsCTTTCTTTT) c.-22+5682_-22+5690delinsCTTTCTTTT (n.-22+5682_-22+5690delinsCTTTCTTTT) | |
15 | g.28093423_28093424insGAA | CA267898301 | OCA2 | c.-22+5802_-22+5803insCTT (n.-22+5802_-22+5803insCTT) c.-22+5689_-22+5690insCTT (n.-22+5689_-22+5690insCTT) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093433_28093436del | CA968019060 | OCA2 | c.-22+5799_-22+5802del (n.-22+5799_-22+5802del) c.-22+5686_-22+5689del (n.-22+5686_-22+5689del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093429_28093436del | CA2166468407 | OCA2 | c.-22+5795_-22+5802del (n.-22+5795_-22+5802del) c.-22+5682_-22+5689del (n.-22+5682_-22+5689del) | dbSNP |
15 | g.28093423A= | CA2166468411 | OCA2 | c.-22+5801T= (n.-22+5801T=) c.-22+5688T= (n.-22+5688T=) | |
15 | g.28093423A>G | CA2166468412 | OCA2 | c.-22+5801T>C (n.-22+5801T>C) c.-22+5688T>C (n.-22+5688T>C) | dbSNP |
15 | g.28093424A= | CA2166468413 | OCA2 | c.-22+5800T= (n.-22+5800T=) c.-22+5687T= (n.-22+5687T=) | |
15 | g.28093424A>G | CA267898308 | OCA2 | c.-22+5800T>C (n.-22+5800T>C) c.-22+5687T>C (n.-22+5687T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093425del | CA968019065 | OCA2 | c.-22+5799del (n.-22+5799del) c.-22+5686del (n.-22+5686del) | gnomAD v3 gnomAD v4 |
15 | g.28093425G>A | CA968019066 | OCA2 | c.-22+5799C>T (n.-22+5799C>T) c.-22+5686C>T (n.-22+5686C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093425G= | CA2166468419 | OCA2 | c.-22+5799C= (n.-22+5799C=) c.-22+5686C= (n.-22+5686C=) | |
15 | g.28093427A= | CA2166468420 | OCA2 | c.-22+5797T= (n.-22+5797T=) c.-22+5684T= (n.-22+5684T=) | |
15 | g.28093427A>C | CA711753356 | OCA2 | c.-22+5797T>G (n.-22+5797T>G) c.-22+5684T>G (n.-22+5684T>G) | dbSNP |
15 | g.28093429G>A | CA968019068 | OCA2 | c.-22+5795C>T (n.-22+5795C>T) c.-22+5682C>T (n.-22+5682C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093429G= | CA2166468422 | OCA2 | c.-22+5795C= (n.-22+5795C=) c.-22+5682C= (n.-22+5682C=) | |
15 | g.28093429_28093435delinsGAAAGAA | CA2166468423 | OCA2 | c.-22+5789_-22+5795delinsTTCTTTC (n.-22+5789_-22+5795delinsTTCTTTC) c.-22+5676_-22+5682delinsTTCTTTC (n.-22+5676_-22+5682delinsTTCTTTC) | |
15 | g.28093433_28093438del | CA2166468425 | OCA2 | c.-22+5789_-22+5794del (n.-22+5789_-22+5794del) c.-22+5676_-22+5681del (n.-22+5676_-22+5681del) | dbSNP |
15 | g.28093431A>C | CA2803509002 | OCA2 | c.-22+5793T>G (n.-22+5793T>G) c.-22+5680T>G (n.-22+5680T>G) | |
15 | g.28093433G>A | CA616699814 | OCA2 | c.-22+5791C>T (n.-22+5791C>T) c.-22+5678C>T (n.-22+5678C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093433G= | CA2166468428 | OCA2 | c.-22+5791C= (n.-22+5791C=) c.-22+5678C= (n.-22+5678C=) | |
15 | g.28093433_28093434delinsGA | CA2166468429 | OCA2 | c.-22+5790_-22+5791delinsTC (n.-22+5790_-22+5791delinsTC) c.-22+5677_-22+5678delinsTC (n.-22+5677_-22+5678delinsTC) | |
15 | g.28093434A= | CA2166468440 | OCA2 | c.-22+5790T= (n.-22+5790T=) c.-22+5677T= (n.-22+5677T=) | |
15 | g.28093434A>G | CA267898309 | OCA2 | c.-22+5790T>C (n.-22+5790T>C) c.-22+5677T>C (n.-22+5677T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28093439del | CA2166468438 | OCA2 | c.-22+5790del (n.-22+5790del) c.-22+5677del (n.-22+5677del) | dbSNP |
15 | g.28093436_28093439del | CA968019073 | OCA2 | c.-22+5787_-22+5790del (n.-22+5787_-22+5790del) c.-22+5674_-22+5677del (n.-22+5674_-22+5677del) | gnomAD v3 gnomAD v4 |
15 | g.28093435A= | CA2166468450 | OCA2 | c.-22+5789T= (n.-22+5789T=) c.-22+5676T= (n.-22+5676T=) | |
15 | g.28093435A>G | CA2166468448 | OCA2 | c.-22+5789T>C (n.-22+5789T>C) c.-22+5676T>C (n.-22+5676T>C) | dbSNP |
15 | g.28093435_28093440delinsAAAAAG | CA2166468447 | OCA2 | c.-22+5784_-22+5789delinsCTTTTT (n.-22+5784_-22+5789delinsCTTTTT) c.-22+5671_-22+5676delinsCTTTTT (n.-22+5671_-22+5676delinsCTTTTT) | |
15 | g.28093436A= | CA2166468459 | OCA2 | c.-22+5788T= (n.-22+5788T=) c.-22+5675T= (n.-22+5675T=) | |
15 | g.28093436A>G | CA2166468457 | OCA2 | c.-22+5788T>C (n.-22+5788T>C) c.-22+5675T>C (n.-22+5675T>C) | dbSNP |
15 | g.28093440_28093444del | CA968019075 | OCA2 | c.-22+5784_-22+5788del (n.-22+5784_-22+5788del) c.-22+5671_-22+5675del (n.-22+5671_-22+5675del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093437A= | CA2166468462 | OCA2 | c.-22+5787T= (n.-22+5787T=) c.-22+5674T= (n.-22+5674T=) | |
15 | g.28093437A>G | CA711753361 | OCA2 | c.-22+5787T>C (n.-22+5787T>C) c.-22+5674T>C (n.-22+5674T>C) | dbSNP |
15 | g.28093438A= | CA2166468466 | OCA2 | c.-22+5786T= (n.-22+5786T=) c.-22+5673T= (n.-22+5673T=) | |
15 | g.28093438A>C | CA267898314 | OCA2 | c.-22+5786T>G (n.-22+5786T>G) c.-22+5673T>G (n.-22+5673T>G) | dbSNP |
15 | g.28093438A>G | CA2166468467 | OCA2 | c.-22+5786T>C (n.-22+5786T>C) c.-22+5673T>C (n.-22+5673T>C) | dbSNP |
15 | g.28093440G>A | CA968019076 | OCA2 | c.-22+5784C>T (n.-22+5784C>T) c.-22+5671C>T (n.-22+5671C>T) | gnomAD v3 gnomAD v4 |
15 | g.28093445C>A | CA968019077 | OCA2 | c.-22+5779G>T (n.-22+5779G>T) c.-22+5666G>T (n.-22+5666G>T) | gnomAD v3 gnomAD v4 |
15 | g.28093445_28093447delinsCAG | CA2166468473 | OCA2 | c.-22+5777_-22+5779delinsCTG (n.-22+5777_-22+5779delinsCTG) c.-22+5664_-22+5666delinsCTG (n.-22+5664_-22+5666delinsCTG) |