Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.28093410_28093411delinsTC | CA2166468346 | OCA2 | c.-22+5813_-22+5814delinsGA (n.-22+5813_-22+5814delinsGA) c.-22+5700_-22+5701delinsGA (n.-22+5700_-22+5701delinsGA) | |
15 | g.28093410_28093414del | CA2556536693 | OCA2 | c.-22+5810_-22+5814del (n.-22+5810_-22+5814del) c.-22+5697_-22+5701del (n.-22+5697_-22+5701del) | |
15 | g.28093411del | CA711753332 | OCA2 | c.-22+5813del (n.-22+5813del) c.-22+5700del (n.-22+5700del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093411C>A | CA968019018 | OCA2 | c.-22+5813G>T (n.-22+5813G>T) c.-22+5700G>T (n.-22+5700G>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28093411C= | CA2166468350 | OCA2 | c.-22+5813G= (n.-22+5813G=) c.-22+5700G= (n.-22+5700G=) | |
15 | g.28093411_28093415delinsCAAAA | CA2166468349 | OCA2 | c.-22+5809_-22+5813delinsTTTTG (n.-22+5809_-22+5813delinsTTTTG) c.-22+5696_-22+5700delinsTTTTG (n.-22+5696_-22+5700delinsTTTTG) | |
15 | g.28093412A= | CA2166468362 | OCA2 | c.-22+5812T= (n.-22+5812T=) c.-22+5699T= (n.-22+5699T=) | |
15 | g.28093412A>C | CA2166468358 | OCA2 | c.-22+5812T>G (n.-22+5812T>G) c.-22+5699T>G (n.-22+5699T>G) | dbSNP |
15 | g.28093412A>G | CA2166468356 | OCA2 | c.-22+5812T>C (n.-22+5812T>C) c.-22+5699T>C (n.-22+5699T>C) | dbSNP |
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.28093416A= | CA2166468371 | OCA2 | c.-22+5808T= (n.-22+5808T=) c.-22+5695T= (n.-22+5695T=) | |
15 | g.28093416A>C | CA2166468372 | OCA2 | c.-22+5808T>G (n.-22+5808T>G) c.-22+5695T>G (n.-22+5695T>G) | dbSNP |
15 | g.28093418A= | CA2166468380 | OCA2 | c.-22+5806T= (n.-22+5806T=) c.-22+5693T= (n.-22+5693T=) | |
15 | g.28093418A>C | CA711753352 | OCA2 | c.-22+5806T>G (n.-22+5806T>G) c.-22+5693T>G (n.-22+5693T>G) | dbSNP 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.28093420A= | CA2166468393 | OCA2 | c.-22+5804T= (n.-22+5804T=) c.-22+5691T= (n.-22+5691T=) | |
15 | g.28093420A>G | CA968019058 | OCA2 | c.-22+5804T>C (n.-22+5804T>C) c.-22+5691T>C (n.-22+5691T>C) | dbSNP 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.28093421A= | CA2166468400 | OCA2 | c.-22+5803T= (n.-22+5803T=) c.-22+5690T= (n.-22+5690T=) | |
15 | g.28093421A>G | CA267898296 | OCA2 | c.-22+5803T>C (n.-22+5803T>C) c.-22+5690T>C (n.-22+5690T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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=) |