| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133256089C>A | CA375685796 | ABO | n.671G>T n.54-4937G>T c.28+19073G>T (n.28+19073G>T) n.653G>T c.639G>T (p.Met213Ile) c.642G>T (p.Met214Ile) | gnomAD v4 |
| 9 | g.133256089C= | CA1882580308 | ABO | n.671G= n.54-4937G= c.28+19073G= (n.28+19073G=) n.653G= c.639G= (p.Met213=) c.642G= (p.Met214=) | |
| 9 | g.133256089C>G | CA375685798 | ABO | n.671G>C n.54-4937G>C c.28+19073G>C (n.28+19073G>C) n.653G>C c.639G>C (p.Met213Ile) c.642G>C (p.Met214Ile) | |
| 9 | g.133256089C>T | CA5305781 | ABO | n.671G>A n.54-4937G>A c.28+19073G>A (n.28+19073G>A) n.653G>A c.639G>A (p.Met213Ile) c.642G>A (p.Met214Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256090A= | CA1882580311 | ABO | n.670T= n.54-4938T= c.28+19072T= (n.28+19072T=) n.652T= c.638T= (p.Met213=) c.641T= (p.Met214=) | |
| 9 | g.133256090A>C | CA375685804 | ABO | n.670T>G n.54-4938T>G c.28+19072T>G (n.28+19072T>G) n.652T>G c.638T>G (p.Met213Arg) c.641T>G (p.Met214Arg) | |
| 9 | g.133256090A>G | CA375685808 | ABO | n.670T>C n.54-4938T>C c.28+19072T>C (n.28+19072T>C) n.652T>C c.638T>C (p.Met213Thr) c.641T>C (p.Met214Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256090A>T | CA375685806 | ABO | n.670T>A n.54-4938T>A c.28+19072T>A (n.28+19072T>A) n.652T>A c.638T>A (p.Met213Lys) c.641T>A (p.Met214Lys) | |
| 9 | g.133256091T>A | CA375685811 | ABO | n.669A>T n.54-4939A>T c.28+19071A>T (n.28+19071A>T) n.651A>T c.637A>T (p.Met213Leu) c.640A>T (p.Met214Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133256091T>C | CA200765434 | ABO | n.669A>G n.54-4939A>G c.28+19071A>G (n.28+19071A>G) n.651A>G c.637A>G (p.Met213Val) c.640A>G (p.Met214Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256091T>G | CA375685814 | ABO | n.669A>C n.54-4939A>C c.28+19071A>C (n.28+19071A>C) n.651A>C c.637A>C (p.Met213Leu) c.640A>C (p.Met214Leu) | |
| 9 | g.133256091T= | CA1882580315 | ABO | n.669A= n.54-4939A= c.28+19071A= (n.28+19071A=) n.651A= c.637A= (p.Met213=) c.640A= (p.Met214=) | |
| 9 | g.133256091_133256097delinsTGTCCAC | CA1882580314 | ABO | n.663_669delinsGTGGACA n.54-4945_54-4939delinsGTGGACA c.28+19065_28+19071delinsGTGGACA (n.28+19065_28+19071delinsGTGGACA) n.645_651delinsGTGGACA c.631_637delinsGTGGACA (p.Val211=) c.634_640delinsGTGGACA (p.Val212=) | |
| 9 | g.133256092G>A | CA467853005 | ABO | n.668C>T n.54-4940C>T c.28+19070C>T (n.28+19070C>T) n.650C>T c.636C>T (p.Asp212=) c.639C>T (p.Asp213=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133256092G>C | CA375685827 | ABO | n.668C>G n.54-4940C>G c.28+19070C>G (n.28+19070C>G) n.650C>G c.636C>G (p.Asp212Glu) c.639C>G (p.Asp213Glu) | |
| 9 | g.133256092G= | CA1882580320 | ABO | n.668C= n.54-4940C= c.28+19070C= (n.28+19070C=) n.650C= c.636C= (p.Asp212=) c.639C= (p.Asp213=) | |
| 9 | g.133256092G>T | CA375685832 | ABO | n.668C>A n.54-4940C>A c.28+19070C>A (n.28+19070C>A) n.650C>A c.636C>A (p.Asp212Glu) c.639C>A (p.Asp213Glu) | gnomAD v4 |
| 9 | g.133256099_133256104dup | CA5305782 | ABO | n.663_668dup n.54-4945_54-4940dup c.28+19065_28+19070dup (n.28+19065_28+19070dup) n.645_650dup c.631_636dup (p.Asp212_Met213insValAsp) c.634_639dup (p.Asp213_Met214insValAsp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256093_133256104dup | CA2579497348 | ABO | n.657_668dup n.54-4951_54-4940dup c.28+19059_28+19070dup (n.28+19059_28+19070dup) n.639_650dup c.625_636dup (p.Asp212_Met213insValAspValAsp) c.628_639dup (p.Asp213_Met214insValAspValAsp) | gnomAD v4 |
| 9 | g.133256099_133256104del | CA591377530 | ABO | n.663_668del n.54-4945_54-4940del c.28+19065_28+19070del (n.28+19065_28+19070del) n.645_650del c.631_636del (p.Val211_Asp212del) c.634_639del (p.Val212_Asp213del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133256093T>A | CA375685835 | ABO | n.667A>T n.54-4941A>T c.28+19069A>T (n.28+19069A>T) n.649A>T c.635A>T (p.Asp212Val) c.638A>T (p.Asp213Val) | |
| 9 | g.133256093T>C | CA375685836 | ABO | n.667A>G n.54-4941A>G c.28+19069A>G (n.28+19069A>G) n.649A>G c.635A>G (p.Asp212Gly) c.638A>G (p.Asp213Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133256093T>G | CA375685840 | ABO | n.667A>C n.54-4941A>C c.28+19069A>C (n.28+19069A>C) n.649A>C c.635A>C (p.Asp212Ala) c.638A>C (p.Asp213Ala) | |
| 9 | g.133256093T= | CA1882580324 | ABO | n.667A= n.54-4941A= c.28+19069A= (n.28+19069A=) n.649A= c.635A= (p.Asp212=) c.638A= (p.Asp213=) | |
| 9 | g.133256094C>A | CA375685843 | ABO | n.666G>T n.54-4942G>T c.28+19068G>T (n.28+19068G>T) n.648G>T c.634G>T (p.Asp212Tyr) c.637G>T (p.Asp213Tyr) | gnomAD v4 |
| 9 | g.133256094C>G | CA375685847 | ABO | n.666G>C n.54-4942G>C c.28+19068G>C (n.28+19068G>C) n.648G>C c.634G>C (p.Asp212His) c.637G>C (p.Asp213His) | gnomAD v4 |
| 9 | g.133256094C>T | CA375685849 | ABO | n.666G>A n.54-4942G>A c.28+19068G>A (n.28+19068G>A) n.648G>A c.634G>A (p.Asp212Asn) c.637G>A (p.Asp213Asn) | gnomAD v4 |
| 9 | g.133256095C>A | CA467853013 | ABO | n.665G>T n.54-4943G>T c.28+19067G>T (n.28+19067G>T) n.647G>T c.633G>T (p.Val211=) c.636G>T (p.Val212=) | gnomAD v4 |
| 9 | g.133256095C>G | CA467853012 | ABO | n.665G>C n.54-4943G>C c.28+19067G>C (n.28+19067G>C) n.647G>C c.633G>C (p.Val211=) c.636G>C (p.Val212=) | |
| 9 | g.133256095C>T | CA467853011 | ABO | n.665G>A n.54-4943G>A c.28+19067G>A (n.28+19067G>A) n.647G>A c.633G>A (p.Val211=) c.636G>A (p.Val212=) | dbSNP gnomAD v4 |
| 9 | g.133256096A= | CA1882580326 | ABO | n.664T= n.54-4944T= c.28+19066T= (n.28+19066T=) n.646T= c.632T= (p.Val211=) c.635T= (p.Val212=) | |
| 9 | g.133256096A>C | CA375685853 | ABO | n.664T>G n.54-4944T>G c.28+19066T>G (n.28+19066T>G) n.646T>G c.632T>G (p.Val211Gly) c.635T>G (p.Val212Gly) | gnomAD v4 |
| 9 | g.133256096A>G | CA5305783 | ABO | n.664T>C n.54-4944T>C c.28+19066T>C (n.28+19066T>C) n.646T>C c.632T>C (p.Val211Ala) c.635T>C (p.Val212Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256096A>T | CA375685852 | ABO | n.664T>A n.54-4944T>A c.28+19066T>A (n.28+19066T>A) n.646T>A c.632T>A (p.Val211Glu) c.635T>A (p.Val212Glu) | |
| 9 | g.133256097C>A | CA375685855 | ABO | n.663G>T n.54-4945G>T c.28+19065G>T (n.28+19065G>T) n.645G>T c.631G>T (p.Val211Leu) c.634G>T (p.Val212Leu) | gnomAD v4 |
| 9 | g.133256097C= | CA1882580329 | ABO | n.663G= n.54-4945G= c.28+19065G= (n.28+19065G=) n.645G= c.631G= (p.Val211=) c.634G= (p.Val212=) | |
| 9 | g.133256097C>G | CA375685858 | ABO | n.663G>C n.54-4945G>C c.28+19065G>C (n.28+19065G>C) n.645G>C c.631G>C (p.Val211Leu) c.634G>C (p.Val212Leu) | |
| 9 | g.133256097C>T | CA5305784 | ABO | n.663G>A n.54-4945G>A c.28+19065G>A (n.28+19065G>A) n.645G>A c.631G>A (p.Val211Met) c.634G>A (p.Val212Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256097_133256098delinsCG | CA1882580332 | ABO | n.662_663delinsCG n.54-4946_54-4945delinsCG c.28+19064_28+19065delinsCG (n.28+19064_28+19065delinsCG) n.644_645delinsCG c.630_631delinsCG (p.Asp210=) c.633_634delinsCG (p.Asp211=) | |
| 9 | g.133256098del | CA1129715366 | ABO | n.662del n.54-4946del c.28+19064del (n.28+19064del) n.644del c.630del (p.Asp210GlufsTer15) c.633del (p.Asp211GlufsTer15) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133256098G>A | CA467853015 | ABO | n.662C>T n.54-4946C>T c.28+19064C>T (n.28+19064C>T) n.644C>T c.630C>T (p.Asp210=) c.633C>T (p.Asp211=) | dbSNP gnomAD v4 |
| 9 | g.133256098G>C | CA375685864 | ABO | n.662C>G n.54-4946C>G c.28+19064C>G (n.28+19064C>G) n.644C>G c.630C>G (p.Asp210Glu) c.633C>G (p.Asp211Glu) | |
| 9 | g.133256098G= | CA1882580334 | ABO | n.662C= n.54-4946C= c.28+19064C= (n.28+19064C=) n.644C= c.630C= (p.Asp210=) c.633C= (p.Asp211=) | |
| 9 | g.133256098G>T | CA375685865 | ABO | n.662C>A n.54-4946C>A c.28+19064C>A (n.28+19064C>A) n.644C>A c.630C>A (p.Asp210Glu) c.633C>A (p.Asp211Glu) | |
| 9 | g.133256099T>A | CA375685867 | ABO | n.661A>T n.54-4947A>T c.28+19063A>T (n.28+19063A>T) n.643A>T c.629A>T (p.Asp210Val) c.632A>T (p.Asp211Val) | |
| 9 | g.133256099T>C | CA375685868 | ABO | n.661A>G n.54-4947A>G c.28+19063A>G (n.28+19063A>G) n.643A>G c.629A>G (p.Asp210Gly) c.632A>G (p.Asp211Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133256099T>G | CA375685869 | ABO | n.661A>C n.54-4947A>C c.28+19063A>C (n.28+19063A>C) n.643A>C c.629A>C (p.Asp210Ala) c.632A>C (p.Asp211Ala) | |
| 9 | g.133256099T= | CA1882580337 | ABO | n.661A= n.54-4947A= c.28+19063A= (n.28+19063A=) n.643A= c.629A= (p.Asp210=) c.632A= (p.Asp211=) | |
| 9 | g.133256100C>A | CA375685871 | ABO | n.660G>T n.54-4948G>T c.28+19062G>T (n.28+19062G>T) n.642G>T c.628G>T (p.Asp210Tyr) c.631G>T (p.Asp211Tyr) | gnomAD v4 |
| 9 | g.133256100C= | CA1882580343 | ABO | n.660G= n.54-4948G= c.28+19062G= (n.28+19062G=) n.642G= c.628G= (p.Asp210=) c.631G= (p.Asp211=) |