| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133256050_133256085delinsTGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAT | CA200765404 | ABO | n.675_710delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA n.54-4933_54-4898delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA c.28+19077_28+19112delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (n.28+19077_28+19112delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA) n.657_692delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA c.643_678delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (p.Phe215Ile) c.646_681delinsATCCGCGACCACGTGGGCGTGGAGATCCTGACTCCA (p.Phe216Ile) | dbSNP |
| 9 | g.133256050_133256085delinsCGGAGTCAGGATCTCCACGCCCACGTGGTCGCGGAA | CA1882580254 | ABO | n.675_710delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG n.54-4933_54-4898delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG c.28+19077_28+19112delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG (n.28+19077_28+19112delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG) n.657_692delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG c.643_678delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG (p.Phe215=) c.646_681delinsTTCCGCGACCACGTGGGCGTGGAGATCCTGACTCCG (p.Phe216=) | |
| 9 | g.133256085A= | CA1630848042 | ABO | n.675T= n.54-4933T= c.28+19077T= (n.28+19077T=) n.657T= c.643T= (p.Phe215=) c.646T= (p.Phe216=) | |
| 9 | g.133256085A>C | CA375685781 | ABO | n.675T>G n.54-4933T>G c.28+19077T>G (n.28+19077T>G) n.657T>G c.643T>G (p.Phe215Val) c.646T>G (p.Phe216Val) | dbSNP |
| 9 | g.133256085A>G | CA375685782 | ABO | n.675T>C n.54-4933T>C c.28+19077T>C (n.28+19077T>C) n.657T>C c.643T>C (p.Phe215Leu) c.646T>C (p.Phe216Leu) | |
| 9 | g.133256085A>T | CA5305779 | ABO | n.675T>A n.54-4933T>A c.28+19077T>A (n.28+19077T>A) n.657T>A c.643T>A (p.Phe215Ile) c.646T>A (p.Phe216Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256086C>A | CA5305780 | ABO | n.674G>T n.54-4934G>T c.28+19076G>T (n.28+19076G>T) n.656G>T c.642G>T (p.Glu214Asp) c.645G>T (p.Glu215Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133256086C= | CA1882580303 | ABO | n.674G= n.54-4934G= c.28+19076G= (n.28+19076G=) n.656G= c.642G= (p.Glu214=) c.645G= (p.Glu215=) | |
| 9 | g.133256086C>G | CA375685783 | ABO | n.674G>C n.54-4934G>C c.28+19076G>C (n.28+19076G>C) n.656G>C c.642G>C (p.Glu214Asp) c.645G>C (p.Glu215Asp) | |
| 9 | g.133256086C>T | CA467853000 | ABO | n.674G>A n.54-4934G>A c.28+19076G>A (n.28+19076G>A) n.656G>A c.642G>A (p.Glu214=) c.645G>A (p.Glu215=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133256087T>A | CA375685785 | ABO | n.673A>T n.54-4935A>T c.28+19075A>T (n.28+19075A>T) n.655A>T c.641A>T (p.Glu214Val) c.644A>T (p.Glu215Val) | |
| 9 | g.133256087T>C | CA375685788 | ABO | n.673A>G n.54-4935A>G c.28+19075A>G (n.28+19075A>G) n.655A>G c.641A>G (p.Glu214Gly) c.644A>G (p.Glu215Gly) | gnomAD v4 |
| 9 | g.133256087T>G | CA375685789 | ABO | n.673A>C n.54-4935A>C c.28+19075A>C (n.28+19075A>C) n.655A>C c.641A>C (p.Glu214Ala) c.644A>C (p.Glu215Ala) | |
| 9 | g.133256088C>A | CA375685792 | ABO | n.672G>T n.54-4936G>T c.28+19074G>T (n.28+19074G>T) n.654G>T c.640G>T (p.Glu214Ter) c.643G>T (p.Glu215Ter) | gnomAD v4 |
| 9 | g.133256088C>G | CA375685793 | ABO | n.672G>C n.54-4936G>C c.28+19074G>C (n.28+19074G>C) n.654G>C c.640G>C (p.Glu214Gln) c.643G>C (p.Glu215Gln) | |
| 9 | g.133256088C>T | CA375685794 | ABO | n.672G>A n.54-4936G>A c.28+19074G>A (n.28+19074G>A) n.654G>A c.640G>A (p.Glu214Lys) c.643G>A (p.Glu215Lys) | COSMIC |
| 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) |