Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.34269088_34269105dupCA2652532342AHCY,ASIPc.320_337dup (p.Ala112_Ser113insCysCysAspProCysAla)
c.332_349dup (p.Ala116_Ser117insCysCysAspProCysAla)
c.*7+11927_*7+11944dup (n.*7+11927_*7+11944dup)
 gnomAD v4
20g.34269102_34269110dupCA2652532343AHCY,ASIPc.334_342dup (p.Cys114_Gln115insAlaSerCys)
c.346_354dup (p.Cys118_Gln119insAlaSerCys)
c.*7+11920_*7+11928dup (n.*7+11920_*7+11928dup)
 gnomAD v4
20g.34269100_34269125delinsGCGCCTCCTGCCAGTGCCGCTTCTTCCA2361127737AHCY,ASIPc.332_357delinsGCGCCTCCTGCCAGTGCCGCTTCTTC (p.Cys111=)
c.344_369delinsGCGCCTCCTGCCAGTGCCGCTTCTTC (p.Cys115=)
c.*7+11902_*7+11927delinsGAAGAAGCGGCACTGGCAGGAGGCGC (n.*7+11902_*7+11927delinsGAAGAAGCGGCACTGGCAGGAGGCGC)
20g.34269101C>ACA408648695AHCY,ASIPc.333C>A (p.Cys111Ter)
c.345C>A (p.Cys115Ter)
c.*7+11926G>T (n.*7+11926G>T)
 gnomAD v4
20g.34269101C>GCA408648697AHCY,ASIPc.333C>G (p.Cys111Trp)
c.345C>G (p.Cys115Trp)
c.*7+11926G>C (n.*7+11926G>C)
20g.34269101C>TCA510271215AHCY,ASIPc.333C>T (p.Cys111=)
c.345C>T (p.Cys115=)
c.*7+11926G>A (n.*7+11926G>A)
 gnomAD v4
20g.34269104_34269128delCA9820708AHCY,ASIPc.336_360del (p.Ser113AlafsTer?)
c.348_372del (p.Ser117AlafsTer?)
c.*7+11902_*7+11926del (n.*7+11902_*7+11926del)
 dbSNP ExAC gnomAD v2
20g.34269102G>ACA408648724AHCY,ASIPc.334G>A (p.Ala112Thr)
c.346G>A (p.Ala116Thr)
c.*7+11925C>T (n.*7+11925C>T)
 gnomAD v4
20g.34269102G>CCA408648726AHCY,ASIPc.334G>C (p.Ala112Pro)
c.346G>C (p.Ala116Pro)
c.*7+11925C>G (n.*7+11925C>G)
20g.34269102G>TCA408648728AHCY,ASIPc.334G>T (p.Ala112Ser)
c.346G>T (p.Ala116Ser)
c.*7+11925C>A (n.*7+11925C>A)
 gnomAD v4
20g.34269103C>ACA408648732AHCY,ASIPc.335C>A (p.Ala112Asp)
c.347C>A (p.Ala116Asp)
c.*7+11924G>T (n.*7+11924G>T)
 dbSNP
20g.34269103C=CA2361127739AHCY,ASIPc.335C= (p.Ala112=)
c.347C= (p.Ala116=)
c.*7+11924G= (n.*7+11924G=)
20g.34269103C>GCA408648734AHCY,ASIPc.335C>G (p.Ala112Gly)
c.347C>G (p.Ala116Gly)
c.*7+11924G>C (n.*7+11924G>C)
20g.34269103C>TCA408648737AHCY,ASIPc.335C>T (p.Ala112Val)
c.347C>T (p.Ala116Val)
c.*7+11924G>A (n.*7+11924G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269104C>ACA510271216AHCY,ASIPc.336C>A (p.Ala112=)
c.348C>A (p.Ala116=)
c.*7+11923G>T (n.*7+11923G>T)
20g.34269104C=CA2361127740AHCY,ASIPc.336C= (p.Ala112=)
c.348C= (p.Ala116=)
c.*7+11923G= (n.*7+11923G=)
20g.34269104C>GCA510271217AHCY,ASIPc.336C>G (p.Ala112=)
c.348C>G (p.Ala116=)
c.*7+11923G>C (n.*7+11923G>C)
 gnomAD v4
20g.34269104C>TCA510271218AHCY,ASIPc.336C>T (p.Ala112=)
c.348C>T (p.Ala116=)
c.*7+11923G>A (n.*7+11923G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269105T>ACA408648740AHCY,ASIPc.337T>A (p.Ser113Thr)
c.349T>A (p.Ser117Thr)
c.*7+11922A>T (n.*7+11922A>T)
20g.34269105T>CCA408648741AHCY,ASIPc.337T>C (p.Ser113Pro)
c.349T>C (p.Ser117Pro)
c.*7+11922A>G (n.*7+11922A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269105T>GCA408648742AHCY,ASIPc.337T>G (p.Ser113Ala)
c.349T>G (p.Ser117Ala)
c.*7+11922A>C (n.*7+11922A>C)
20g.34269105T=CA2361127741AHCY,ASIPc.337T= (p.Ser113=)
c.349T= (p.Ser117=)
c.*7+11922A= (n.*7+11922A=)
20g.34269106C>ACA408648745AHCY,ASIPc.338C>A (p.Ser113Tyr)
c.350C>A (p.Ser117Tyr)
c.*7+11921G>T (n.*7+11921G>T)
 gnomAD v4
20g.34269106C>GCA408648743AHCY,ASIPc.338C>G (p.Ser113Cys)
c.350C>G (p.Ser117Cys)
c.*7+11921G>C (n.*7+11921G>C)
20g.34269106C>TCA408648744AHCY,ASIPc.338C>T (p.Ser113Phe)
c.350C>T (p.Ser117Phe)
c.*7+11921G>A (n.*7+11921G>A)
20g.34269107C>ACA510271219AHCY,ASIPc.339C>A (p.Ser113=)
c.351C>A (p.Ser117=)
c.*7+11920G>T (n.*7+11920G>T)
 gnomAD v4
20g.34269107C>GCA510271220AHCY,ASIPc.339C>G (p.Ser113=)
c.351C>G (p.Ser117=)
c.*7+11920G>C (n.*7+11920G>C)
20g.34269107C>TCA510271221AHCY,ASIPc.339C>T (p.Ser113=)
c.351C>T (p.Ser117=)
c.*7+11920G>A (n.*7+11920G>A)
 gnomAD v4
20g.34269108T>ACA408648746AHCY,ASIPc.340T>A (p.Cys114Ser)
c.352T>A (p.Cys118Ser)
c.*7+11919A>T (n.*7+11919A>T)
20g.34269108T>CCA408648748AHCY,ASIPc.340T>C (p.Cys114Arg)
c.352T>C (p.Cys118Arg)
c.*7+11919A>G (n.*7+11919A>G)
 gnomAD v4
20g.34269108T>GCA408648751AHCY,ASIPc.340T>G (p.Cys114Gly)
c.352T>G (p.Cys118Gly)
c.*7+11919A>C (n.*7+11919A>C)
20g.34269109G>ACA408648754AHCY,ASIPc.341G>A (p.Cys114Tyr)
c.353G>A (p.Cys118Tyr)
c.*7+11918C>T (n.*7+11918C>T)
 gnomAD v4
20g.34269109G>CCA408648759AHCY,ASIPc.341G>C (p.Cys114Ser)
c.353G>C (p.Cys118Ser)
c.*7+11918C>G (n.*7+11918C>G)
20g.34269109G>TCA408648765AHCY,ASIPc.341G>T (p.Cys114Phe)
c.353G>T (p.Cys118Phe)
c.*7+11918C>A (n.*7+11918C>A)
20g.34269110C>ACA408648767AHCY,ASIPc.342C>A (p.Cys114Ter)
c.354C>A (p.Cys118Ter)
c.*7+11917G>T (n.*7+11917G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269110C=CA2361127742AHCY,ASIPc.342C= (p.Cys114=)
c.354C= (p.Cys118=)
c.*7+11917G= (n.*7+11917G=)
20g.34269110C>GCA408648770AHCY,ASIPc.342C>G (p.Cys114Trp)
c.354C>G (p.Cys118Trp)
c.*7+11917G>C (n.*7+11917G>C)
20g.34269110C>TCA510271222AHCY,ASIPc.342C>T (p.Cys114=)
c.354C>T (p.Cys118=)
c.*7+11917G>A (n.*7+11917G>A)
 gnomAD v4
20g.34269111C>ACA408648774AHCY,ASIPc.343C>A (p.Gln115Lys)
c.355C>A (p.Gln119Lys)
c.*7+11916G>T (n.*7+11916G>T)
20g.34269111C>GCA408648776AHCY,ASIPc.343C>G (p.Gln115Glu)
c.355C>G (p.Gln119Glu)
c.*7+11916G>C (n.*7+11916G>C)
20g.34269111C>TCA408648779AHCY,ASIPc.343C>T (p.Gln115Ter)
c.355C>T (p.Gln119Ter)
c.*7+11916G>A (n.*7+11916G>A)
 gnomAD v4
20g.34269112A>CCA408648781AHCY,ASIPc.344A>C (p.Gln115Pro)
c.356A>C (p.Gln119Pro)
c.*7+11915T>G (n.*7+11915T>G)
20g.34269112A>GCA408648782AHCY,ASIPc.344A>G (p.Gln115Arg)
c.356A>G (p.Gln119Arg)
c.*7+11915T>C (n.*7+11915T>C)
20g.34269112A>TCA408648780AHCY,ASIPc.344A>T (p.Gln115Leu)
c.356A>T (p.Gln119Leu)
c.*7+11915T>A (n.*7+11915T>A)
20g.34269113G>ACA510271223AHCY,ASIPc.345G>A (p.Gln115=)
c.357G>A (p.Gln119=)
c.*7+11914C>T (n.*7+11914C>T)
20g.34269113G>CCA408648786AHCY,ASIPc.345G>C (p.Gln115His)
c.357G>C (p.Gln119His)
c.*7+11914C>G (n.*7+11914C>G)
20g.34269113G>TCA408648789AHCY,ASIPc.345G>T (p.Gln115His)
c.357G>T (p.Gln119His)
c.*7+11914C>A (n.*7+11914C>A)
20g.34269114T>ACA408648792AHCY,ASIPc.346T>A (p.Cys116Ser)
c.358T>A (p.Cys120Ser)
c.*7+11913A>T (n.*7+11913A>T)
20g.34269114T>CCA313334681AHCY,ASIPc.346T>C (p.Cys116Arg)
c.358T>C (p.Cys120Arg)
c.*7+11913A>G (n.*7+11913A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269114T>GCA408648798AHCY,ASIPc.346T>G (p.Cys116Gly)
c.358T>G (p.Cys120Gly)
c.*7+11913A>C (n.*7+11913A>C)
20g.34269114T=CA2361127743AHCY,ASIPc.346T= (p.Cys116=)
c.358T= (p.Cys120=)
c.*7+11913A= (n.*7+11913A=)
20g.34269115G>ACA408648803AHCY,ASIPc.347G>A (p.Cys116Tyr)
c.359G>A (p.Cys120Tyr)
c.*7+11912C>T (n.*7+11912C>T)
 gnomAD v4
20g.34269115G>CCA408648807AHCY,ASIPc.347G>C (p.Cys116Ser)
c.359G>C (p.Cys120Ser)
c.*7+11912C>G (n.*7+11912C>G)
 gnomAD v4
20g.34269115G>TCA408648809AHCY,ASIPc.347G>T (p.Cys116Phe)
c.359G>T (p.Cys120Phe)
c.*7+11912C>A (n.*7+11912C>A)
 gnomAD v4
20g.34269116C>ACA408648814AHCY,ASIPc.348C>A (p.Cys116Ter)
c.360C>A (p.Cys120Ter)
c.*7+11911G>T (n.*7+11911G>T)
 gnomAD v4
20g.34269116C=CA2361127744AHCY,ASIPc.348C= (p.Cys116=)
c.360C= (p.Cys120=)
c.*7+11911G= (n.*7+11911G=)
20g.34269116C>GCA408648817AHCY,ASIPc.348C>G (p.Cys116Trp)
c.360C>G (p.Cys120Trp)
c.*7+11911G>C (n.*7+11911G>C)
20g.34269116C>TCA510271224AHCY,ASIPc.348C>T (p.Cys116=)
c.360C>T (p.Cys120=)
c.*7+11911G>A (n.*7+11911G>A)
 dbSNP gnomAD v4
20g.34269117C>ACA408648820AHCY,ASIPc.349C>A (p.Arg117Ser)
c.361C>A (p.Arg121Ser)
c.*7+11910G>T (n.*7+11910G>T)
 gnomAD v4
20g.34269117C=CA2361127745AHCY,ASIPc.349C= (p.Arg117=)
c.361C= (p.Arg121=)
c.*7+11910G= (n.*7+11910G=)
20g.34269117C>GCA408648823AHCY,ASIPc.349C>G (p.Arg117Gly)
c.361C>G (p.Arg121Gly)
c.*7+11910G>C (n.*7+11910G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269117C>TCA313334698AHCY,ASIPc.349C>T (p.Arg117Cys)
c.361C>T (p.Arg121Cys)
c.*7+11910G>A (n.*7+11910G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269118G>ACA408648833AHCY,ASIPc.350G>A (p.Arg117His)
c.362G>A (p.Arg121His)
c.*7+11909C>T (n.*7+11909C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269118G>CCA408648830AHCY,ASIPc.350G>C (p.Arg117Pro)
c.362G>C (p.Arg121Pro)
c.*7+11909C>G (n.*7+11909C>G)
20g.34269118G=CA2361127746AHCY,ASIPc.350G= (p.Arg117=)
c.362G= (p.Arg121=)
c.*7+11909C= (n.*7+11909C=)
20g.34269118G>TCA313334702AHCY,ASIPc.350G>T (p.Arg117Leu)
c.362G>T (p.Arg121Leu)
c.*7+11909C>A (n.*7+11909C>A)
 dbSNP
20g.34269119C>ACA510271225AHCY,ASIPc.351C>A (p.Arg117=)
c.363C>A (p.Arg121=)
c.*7+11908G>T (n.*7+11908G>T)
20g.34269119C=CA2361127747AHCY,ASIPc.351C= (p.Arg117=)
c.363C= (p.Arg121=)
c.*7+11908G= (n.*7+11908G=)
20g.34269119C>GCA510271227AHCY,ASIPc.351C>G (p.Arg117=)
c.363C>G (p.Arg121=)
c.*7+11908G>C (n.*7+11908G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269119C>TCA510271226AHCY,ASIPc.351C>T (p.Arg117=)
c.363C>T (p.Arg121=)
c.*7+11908G>A (n.*7+11908G>A)
 gnomAD v4
20g.34269120T>ACA408648836AHCY,ASIPc.352T>A (p.Phe118Ile)
c.364T>A (p.Phe122Ile)
c.*7+11907A>T (n.*7+11907A>T)
20g.34269120T>CCA408648840AHCY,ASIPc.352T>C (p.Phe118Leu)
c.364T>C (p.Phe122Leu)
c.*7+11907A>G (n.*7+11907A>G)
20g.34269120T>GCA408648844AHCY,ASIPc.352T>G (p.Phe118Val)
c.364T>G (p.Phe122Val)
c.*7+11907A>C (n.*7+11907A>C)
20g.34269121T>ACA9820709AHCY,ASIPc.353T>A (p.Phe118Tyr)
c.365T>A (p.Phe122Tyr)
c.*7+11906A>T (n.*7+11906A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269121T>CCA408648850AHCY,ASIPc.353T>C (p.Phe118Ser)
c.365T>C (p.Phe122Ser)
c.*7+11906A>G (n.*7+11906A>G)
20g.34269121T>GCA408648853AHCY,ASIPc.353T>G (p.Phe118Cys)
c.365T>G (p.Phe122Cys)
c.*7+11906A>C (n.*7+11906A>C)
20g.34269121T=CA2361127748AHCY,ASIPc.353T= (p.Phe118=)
c.365T= (p.Phe122=)
c.*7+11906A= (n.*7+11906A=)
20g.34269122C>ACA313334711AHCY,ASIPc.354C>A (p.Phe118Leu)
c.366C>A (p.Phe122Leu)
c.*7+11905G>T (n.*7+11905G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269122C=CA2361127749AHCY,ASIPc.354C= (p.Phe118=)
c.366C= (p.Phe122=)
c.*7+11905G= (n.*7+11905G=)
20g.34269122C>GCA408648856AHCY,ASIPc.354C>G (p.Phe118Leu)
c.366C>G (p.Phe122Leu)
c.*7+11905G>C (n.*7+11905G>C)
20g.34269122C>TCA510271228AHCY,ASIPc.354C>T (p.Phe118=)
c.366C>T (p.Phe122=)
c.*7+11905G>A (n.*7+11905G>A)
 gnomAD v4
20g.34269123T>ACA408648859AHCY,ASIPc.355T>A (p.Phe119Ile)
c.367T>A (p.Phe123Ile)
c.*7+11904A>T (n.*7+11904A>T)
20g.34269123T>CCA408648861AHCY,ASIPc.355T>C (p.Phe119Leu)
c.367T>C (p.Phe123Leu)
c.*7+11904A>G (n.*7+11904A>G)
 dbSNP gnomAD v2 gnomAD v4
20g.34269123T>GCA408648865AHCY,ASIPc.355T>G (p.Phe119Val)
c.367T>G (p.Phe123Val)
c.*7+11904A>C (n.*7+11904A>C)
20g.34269123T=CA2361127750AHCY,ASIPc.355T= (p.Phe119=)
c.367T= (p.Phe123=)
c.*7+11904A= (n.*7+11904A=)
20g.34269124T>ACA408648867AHCY,ASIPc.356T>A (p.Phe119Tyr)
c.368T>A (p.Phe123Tyr)
c.*7+11903A>T (n.*7+11903A>T)
20g.34269124T>CCA408648871AHCY,ASIPc.356T>C (p.Phe119Ser)
c.368T>C (p.Phe123Ser)
c.*7+11903A>G (n.*7+11903A>G)
 gnomAD v4
20g.34269124T>GCA408648878AHCY,ASIPc.356T>G (p.Phe119Cys)
c.368T>G (p.Phe123Cys)
c.*7+11903A>C (n.*7+11903A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269124T=CA2361127751AHCY,ASIPc.356T= (p.Phe119=)
c.368T= (p.Phe123=)
c.*7+11903A= (n.*7+11903A=)
20g.34269125C>ACA408648886AHCY,ASIPc.357C>A (p.Phe119Leu)
c.369C>A (p.Phe123Leu)
c.*7+11902G>T (n.*7+11902G>T)
 gnomAD v4
20g.34269125C=CA2361127753AHCY,ASIPc.357C= (p.Phe119=)
c.369C= (p.Phe123=)
c.*7+11902G= (n.*7+11902G=)
20g.34269125C>GCA408648890AHCY,ASIPc.357C>G (p.Phe119Leu)
c.369C>G (p.Phe123Leu)
c.*7+11902G>C (n.*7+11902G>C)
20g.34269125C>TCA9820710AHCY,ASIPc.357C>T (p.Phe119=)
c.369C>T (p.Phe123=)
c.*7+11902G>A (n.*7+11902G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269129_34269146dupCA2361127752AHCY,ASIPc.361_378dup (p.Arg126_Val127insSerAlaCysSerCysArg)
c.373_390dup (p.Arg130_Val131insSerAlaCysSerCysArg)
c.*7+11885_*7+11902dup (n.*7+11885_*7+11902dup)
 dbSNP gnomAD v4
20g.34269126C>ACA408648894AHCY,ASIPc.358C>A (p.Arg120Ser)
c.370C>A (p.Arg124Ser)
c.*7+11901G>T (n.*7+11901G>T)
 gnomAD v4
20g.34269126C>GCA408648902AHCY,ASIPc.358C>G (p.Arg120Gly)
c.370C>G (p.Arg124Gly)
c.*7+11901G>C (n.*7+11901G>C)
20g.34269126C>TCA408648898AHCY,ASIPc.358C>T (p.Arg120Cys)
c.370C>T (p.Arg124Cys)
c.*7+11901G>A (n.*7+11901G>A)
20g.34269127G>ACA408648907AHCY,ASIPc.359G>A (p.Arg120His)
c.371G>A (p.Arg124His)
c.*7+11900C>T (n.*7+11900C>T)
 gnomAD v4
20g.34269127G>CCA408648913AHCY,ASIPc.359G>C (p.Arg120Pro)
c.371G>C (p.Arg124Pro)
c.*7+11900C>G (n.*7+11900C>G)
20g.34269127G>TCA408648910AHCY,ASIPc.359G>T (p.Arg120Leu)
c.371G>T (p.Arg124Leu)
c.*7+11900C>A (n.*7+11900C>A)
 gnomAD v4
20g.34269128C>ACA510271229AHCY,ASIPc.360C>A (p.Arg120=)
c.372C>A (p.Arg124=)
c.*7+11899G>T (n.*7+11899G>T)
 gnomAD v4
20g.34269128C>GCA510271230AHCY,ASIPc.360C>G (p.Arg120=)
c.372C>G (p.Arg124=)
c.*7+11899G>C (n.*7+11899G>C)
20g.34269128C>TCA510271231AHCY,ASIPc.360C>T (p.Arg120=)
c.372C>T (p.Arg124=)
c.*7+11899G>A (n.*7+11899G>A)
20g.34269129A>CCA408648915AHCY,ASIPc.361A>C (p.Ser121Arg)
c.373A>C (p.Ser125Arg)
c.*7+11898T>G (n.*7+11898T>G)
20g.34269129A>GCA408648920AHCY,ASIPc.361A>G (p.Ser121Gly)
c.373A>G (p.Ser125Gly)
c.*7+11898T>C (n.*7+11898T>C)
 gnomAD v4
20g.34269129A>TCA408648923AHCY,ASIPc.361A>T (p.Ser121Cys)
c.373A>T (p.Ser125Cys)
c.*7+11898T>A (n.*7+11898T>A)
20g.34269130G>ACA408648925AHCY,ASIPc.362G>A (p.Ser121Asn)
c.374G>A (p.Ser125Asn)
c.*7+11897C>T (n.*7+11897C>T)
20g.34269130G>CCA408648930AHCY,ASIPc.362G>C (p.Ser121Thr)
c.374G>C (p.Ser125Thr)
c.*7+11897C>G (n.*7+11897C>G)
20g.34269130G=CA2361127754AHCY,ASIPc.362G= (p.Ser121=)
c.374G= (p.Ser125=)
c.*7+11897C= (n.*7+11897C=)
20g.34269130G>TCA408648934AHCY,ASIPc.362G>T (p.Ser121Ile)
c.374G>T (p.Ser125Ile)
c.*7+11897C>A (n.*7+11897C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269131C>ACA408648939AHCY,ASIPc.363C>A (p.Ser121Arg)
c.375C>A (p.Ser125Arg)
c.*7+11896G>T (n.*7+11896G>T)
 gnomAD v4
20g.34269131C>GCA408648942AHCY,ASIPc.363C>G (p.Ser121Arg)
c.375C>G (p.Ser125Arg)
c.*7+11896G>C (n.*7+11896G>C)
 gnomAD v4
20g.34269131C>TCA510271232AHCY,ASIPc.363C>T (p.Ser121=)
c.375C>T (p.Ser125=)
c.*7+11896G>A (n.*7+11896G>A)
 gnomAD v4
20g.34269132G>ACA408648946AHCY,ASIPc.364G>A (p.Ala122Thr)
c.376G>A (p.Ala126Thr)
c.*7+11895C>T (n.*7+11895C>T)
 gnomAD v4
20g.34269132G>CCA408648948AHCY,ASIPc.364G>C (p.Ala122Pro)
c.376G>C (p.Ala126Pro)
c.*7+11895C>G (n.*7+11895C>G)
20g.34269132G>TCA408648951AHCY,ASIPc.364G>T (p.Ala122Ser)
c.376G>T (p.Ala126Ser)
c.*7+11895C>A (n.*7+11895C>A)
20g.34269133C>ACA408648958AHCY,ASIPc.365C>A (p.Ala122Asp)
c.377C>A (p.Ala126Asp)
c.*7+11894G>T (n.*7+11894G>T)
20g.34269133C=CA2361127755AHCY,ASIPc.365C= (p.Ala122=)
c.377C= (p.Ala126=)
c.*7+11894G= (n.*7+11894G=)
20g.34269133C>GCA408648954AHCY,ASIPc.365C>G (p.Ala122Gly)
c.377C>G (p.Ala126Gly)
c.*7+11894G>C (n.*7+11894G>C)
20g.34269133C>TCA408648952AHCY,ASIPc.365C>T (p.Ala122Val)
c.377C>T (p.Ala126Val)
c.*7+11894G>A (n.*7+11894G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269134C>ACA510271233AHCY,ASIPc.366C>A (p.Ala122=)
c.378C>A (p.Ala126=)
c.*7+11893G>T (n.*7+11893G>T)
20g.34269134C=CA2361127756AHCY,ASIPc.366C= (p.Ala122=)
c.378C= (p.Ala126=)
c.*7+11893G= (n.*7+11893G=)
20g.34269134C>GCA510271234AHCY,ASIPc.366C>G (p.Ala122=)
c.378C>G (p.Ala126=)
c.*7+11893G>C (n.*7+11893G>C)
20g.34269134C>TCA510271235AHCY,ASIPc.366C>T (p.Ala122=)
c.378C>T (p.Ala126=)
c.*7+11893G>A (n.*7+11893G>A)
 dbSNP gnomAD v2
20g.34269135T>ACA408648963AHCY,ASIPc.367T>A (p.Cys123Ser)
c.379T>A (p.Cys127Ser)
c.*7+11892A>T (n.*7+11892A>T)
20g.34269135T>CCA408648964AHCY,ASIPc.367T>C (p.Cys123Arg)
c.379T>C (p.Cys127Arg)
c.*7+11892A>G (n.*7+11892A>G)
 gnomAD v4
20g.34269135T>GCA408648967AHCY,ASIPc.367T>G (p.Cys123Gly)
c.379T>G (p.Cys127Gly)
c.*7+11892A>C (n.*7+11892A>C)
20g.34269136G>ACA9820711AHCY,ASIPc.368G>A (p.Cys123Tyr)
c.380G>A (p.Cys127Tyr)
c.*7+11891C>T (n.*7+11891C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269136G>CCA408648973AHCY,ASIPc.368G>C (p.Cys123Ser)
c.380G>C (p.Cys127Ser)
c.*7+11891C>G (n.*7+11891C>G)
20g.34269136G=CA2361127757AHCY,ASIPc.368G= (p.Cys123=)
c.380G= (p.Cys127=)
c.*7+11891C= (n.*7+11891C=)
20g.34269136G>TCA408648976AHCY,ASIPc.368G>T (p.Cys123Phe)
c.380G>T (p.Cys127Phe)
c.*7+11891C>A (n.*7+11891C>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34269137C>ACA408648984AHCY,ASIPc.369C>A (p.Cys123Ter)
c.381C>A (p.Cys127Ter)
c.*7+11890G>T (n.*7+11890G>T)
 gnomAD v4
20g.34269137C=CA2361127758AHCY,ASIPc.369C= (p.Cys123=)
c.381C= (p.Cys127=)
c.*7+11890G= (n.*7+11890G=)
20g.34269137C>GCA408648987AHCY,ASIPc.369C>G (p.Cys123Trp)
c.381C>G (p.Cys127Trp)
c.*7+11890G>C (n.*7+11890G>C)
20g.34269137C>TCA510271236AHCY,ASIPc.369C>T (p.Cys123=)
c.381C>T (p.Cys127=)
c.*7+11890G>A (n.*7+11890G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269138T>ACA408648990AHCY,ASIPc.370T>A (p.Ser124Thr)
c.382T>A (p.Ser128Thr)
c.*7+11889A>T (n.*7+11889A>T)
 gnomAD v4
20g.34269138T>CCA408648993AHCY,ASIPc.370T>C (p.Ser124Pro)
c.382T>C (p.Ser128Pro)
c.*7+11889A>G (n.*7+11889A>G)
 gnomAD v4
20g.34269138T>GCA408648995AHCY,ASIPc.370T>G (p.Ser124Ala)
c.382T>G (p.Ser128Ala)
c.*7+11889A>C (n.*7+11889A>C)
20g.34269139C>ACA408649005AHCY,ASIPc.371C>A (p.Ser124Tyr)
c.383C>A (p.Ser128Tyr)
c.*7+11888G>T (n.*7+11888G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269139C=CA2361127759AHCY,ASIPc.371C= (p.Ser124=)
c.383C= (p.Ser128=)
c.*7+11888G= (n.*7+11888G=)
20g.34269139C>GCA408649002AHCY,ASIPc.371C>G (p.Ser124Cys)
c.383C>G (p.Ser128Cys)
c.*7+11888G>C (n.*7+11888G>C)
20g.34269139C>TCA408649000AHCY,ASIPc.371C>T (p.Ser124Phe)
c.383C>T (p.Ser128Phe)
c.*7+11888G>A (n.*7+11888G>A)
 dbSNP gnomAD v4
20g.34269140C>ACA510271237AHCY,ASIPc.372C>A (p.Ser124=)
c.384C>A (p.Ser128=)
c.*7+11887G>T (n.*7+11887G>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269140C=CA2361127760AHCY,ASIPc.372C= (p.Ser124=)
c.384C= (p.Ser128=)
c.*7+11887G= (n.*7+11887G=)
20g.34269140C>GCA510271239AHCY,ASIPc.372C>G (p.Ser124=)
c.384C>G (p.Ser128=)
c.*7+11887G>C (n.*7+11887G>C)
20g.34269140C>TCA510271238AHCY,ASIPc.372C>T (p.Ser124=)
c.384C>T (p.Ser128=)
c.*7+11887G>A (n.*7+11887G>A)
20g.34269141T>ACA408649010AHCY,ASIPc.373T>A (p.Cys125Ser)
c.385T>A (p.Cys129Ser)
c.*7+11886A>T (n.*7+11886A>T)
20g.34269141T>CCA408649013AHCY,ASIPc.373T>C (p.Cys125Arg)
c.385T>C (p.Cys129Arg)
c.*7+11886A>G (n.*7+11886A>G)
20g.34269141T>GCA408649022AHCY,ASIPc.373T>G (p.Cys125Gly)
c.385T>G (p.Cys129Gly)
c.*7+11886A>C (n.*7+11886A>C)
20g.34269142G>ACA408649027AHCY,ASIPc.374G>A (p.Cys125Tyr)
c.386G>A (p.Cys129Tyr)
c.*7+11885C>T (n.*7+11885C>T)
20g.34269142G>CCA408649030AHCY,ASIPc.374G>C (p.Cys125Ser)
c.386G>C (p.Cys129Ser)
c.*7+11885C>G (n.*7+11885C>G)
20g.34269142G>TCA408649031AHCY,ASIPc.374G>T (p.Cys125Phe)
c.386G>T (p.Cys129Phe)
c.*7+11885C>A (n.*7+11885C>A)
20g.34269142_34269154delCA2652532344AHCY,ASIPc.374_386del (p.Cys125SerfsTer29)
c.374_386del (p.Cys125SerfsTer?)
c.386_398del (p.Cys129SerfsTer29)
c.*7+11873_*7+11885del (n.*7+11873_*7+11885del)
 gnomAD v4
20g.34269143C>ACA9820712AHCY,ASIPc.375C>A (p.Cys125Ter)
c.387C>A (p.Cys129Ter)
c.*7+11884G>T (n.*7+11884G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269143C=CA2361127761AHCY,ASIPc.375C= (p.Cys125=)
c.387C= (p.Cys129=)
c.*7+11884G= (n.*7+11884G=)
20g.34269143C>GCA408649034AHCY,ASIPc.375C>G (p.Cys125Trp)
c.387C>G (p.Cys129Trp)
c.*7+11884G>C (n.*7+11884G>C)
20g.34269143C>TCA510271240AHCY,ASIPc.375C>T (p.Cys125=)
c.387C>T (p.Cys129=)
c.*7+11884G>A (n.*7+11884G>A)
 gnomAD v4
20g.34269145_34269175delCA2816205318AHCY,ASIPc.377_*8del (n.[c.377_*8del;Arg126HisfsTer22])
c.377_*8del (n.[c.377_*8del;Arg126=])
c.389_*8del (n.[c.389_*8del;Arg130HisfsTer22])
c.*7+11854_*7+11884del (n.*7+11854_*7+11884del)
20g.34269144C>ACA408649037AHCY,ASIPc.376C>A (p.Arg126Ser)
c.388C>A (p.Arg130Ser)
c.*7+11883G>T (n.*7+11883G>T)
 gnomAD v4
20g.34269144C=CA2361127762AHCY,ASIPc.376C= (p.Arg126=)
c.388C= (p.Arg130=)
c.*7+11883G= (n.*7+11883G=)
20g.34269144C>GCA408649038AHCY,ASIPc.376C>G (p.Arg126Gly)
c.388C>G (p.Arg130Gly)
c.*7+11883G>C (n.*7+11883G>C)
20g.34269144C>TCA408649039AHCY,ASIPc.376C>T (p.Arg126Cys)
c.388C>T (p.Arg130Cys)
c.*7+11883G>A (n.*7+11883G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34269145G>ACA408649042AHCY,ASIPc.377G>A (p.Arg126His)
c.389G>A (p.Arg130His)
c.*7+11882C>T (n.*7+11882C>T)
 gnomAD v4
20g.34269145G>CCA408649041AHCY,ASIPc.377G>C (p.Arg126Pro)
c.389G>C (p.Arg130Pro)
c.*7+11882C>G (n.*7+11882C>G)
20g.34269145G>TCA408649040AHCY,ASIPc.377G>T (p.Arg126Leu)
c.389G>T (p.Arg130Leu)
c.*7+11882C>A (n.*7+11882C>A)
 gnomAD v4
20g.34269146C>ACA510271242AHCY,ASIPc.378C>A (p.Arg126=)
c.390C>A (p.Arg130=)
c.*7+11881G>T (n.*7+11881G>T)
 gnomAD v4
20g.34269146C>GCA510271245AHCY,ASIPc.378C>G (p.Arg126=)
c.390C>G (p.Arg130=)
c.*7+11881G>C (n.*7+11881G>C)
20g.34269146C>TCA510271244AHCY,ASIPc.378C>T (p.Arg126=)
c.390C>T (p.Arg130=)
c.*7+11881G>A (n.*7+11881G>A)
20g.34269147G>ACA408649043AHCY,ASIPc.379G>A (p.Val127Met)
c.391G>A (p.Val131Met)
c.*7+11880C>T (n.*7+11880C>T)
 gnomAD v4
20g.34269147G>CCA408649044AHCY,ASIPc.379G>C (p.Val127Leu)
c.391G>C (p.Val131Leu)
c.*7+11880C>G (n.*7+11880C>G)
 dbSNP gnomAD v2
20g.34269147G=CA2361127763AHCY,ASIPc.379G= (p.Val127=)
c.391G= (p.Val131=)
c.*7+11880C= (n.*7+11880C=)
20g.34269147G>TCA408649045AHCY,ASIPc.379G>T (p.Val127Leu)
c.391G>T (p.Val131Leu)
c.*7+11880C>A (n.*7+11880C>A)
20g.34269148T>ACA408649046AHCY,ASIPc.380T>A (p.Val127Glu)
c.392T>A (p.Val131Glu)
c.*7+11879A>T (n.*7+11879A>T)
20g.34269148T>CCA408649047AHCY,ASIPc.380T>C (p.Val127Ala)
c.392T>C (p.Val131Ala)
c.*7+11879A>G (n.*7+11879A>G)
 gnomAD v4
20g.34269148T>GCA408649048AHCY,ASIPc.380T>G (p.Val127Gly)
c.392T>G (p.Val131Gly)
c.*7+11879A>C (n.*7+11879A>C)
20g.34269149G>ACA510271247AHCY,ASIPc.381G>A (p.Val127=)
c.393G>A (p.Val131=)
c.*7+11878C>T (n.*7+11878C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269149G>CCA510271248AHCY,ASIPc.381G>C (p.Val127=)
c.393G>C (p.Val131=)
c.*7+11878C>G (n.*7+11878C>G)
20g.34269149G=CA2361127764AHCY,ASIPc.381G= (p.Val127=)
c.393G= (p.Val131=)
c.*7+11878C= (n.*7+11878C=)
20g.34269149G>TCA510271250AHCY,ASIPc.381G>T (p.Val127=)
c.393G>T (p.Val131=)
c.*7+11878C>A (n.*7+11878C>A)
 gnomAD v4
20g.34269150C>ACA9820713AHCY,ASIPc.382C>A (p.Leu128Ile)
c.394C>A (p.Leu132Ile)
c.*7+11877G>T (n.*7+11877G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269150C=CA2361127765AHCY,ASIPc.382C= (p.Leu128=)
c.394C= (p.Leu132=)
c.*7+11877G= (n.*7+11877G=)
20g.34269150C>GCA408649049AHCY,ASIPc.382C>G (p.Leu128Val)
c.394C>G (p.Leu132Val)
c.*7+11877G>C (n.*7+11877G>C)
20g.34269150C>TCA408649050AHCY,ASIPc.382C>T (p.Leu128Phe)
c.394C>T (p.Leu132Phe)
c.*7+11877G>A (n.*7+11877G>A)
20g.34269151T>ACA408649051AHCY,ASIPc.383T>A (p.Leu128His)
c.395T>A (p.Leu132His)
c.*7+11876A>T (n.*7+11876A>T)
 gnomAD v4
20g.34269151T>CCA408649052AHCY,ASIPc.383T>C (p.Leu128Pro)
c.395T>C (p.Leu132Pro)
c.*7+11876A>G (n.*7+11876A>G)
20g.34269151T>GCA408649053AHCY,ASIPc.383T>G (p.Leu128Arg)
c.395T>G (p.Leu132Arg)
c.*7+11876A>C (n.*7+11876A>C)
20g.34269152C>ACA510271253AHCY,ASIPc.384C>A (p.Leu128=)
c.396C>A (p.Leu132=)
c.*7+11875G>T (n.*7+11875G>T)
 gnomAD v4
20g.34269152C=CA2361127766AHCY,ASIPc.384C= (p.Leu128=)
c.396C= (p.Leu132=)
c.*7+11875G= (n.*7+11875G=)
20g.34269152C>GCA510271254AHCY,ASIPc.384C>G (p.Leu128=)
c.396C>G (p.Leu132=)
c.*7+11875G>C (n.*7+11875G>C)
 gnomAD v4
20g.34269152C>TCA510271255AHCY,ASIPc.384C>T (p.Leu128=)
c.396C>T (p.Leu132=)
c.*7+11875G>A (n.*7+11875G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269153A>CCA408649060AHCY,ASIPc.385A>C (p.Ser129Arg)
c.397A>C (p.Ser133Arg)
c.*7+11874T>G (n.*7+11874T>G)
20g.34269153A>GCA408649058AHCY,ASIPc.385A>G (p.Ser129Gly)
c.397A>G (p.Ser133Gly)
c.*7+11874T>C (n.*7+11874T>C)
20g.34269153A>TCA408649056AHCY,ASIPc.385A>T (p.Ser129Cys)
c.397A>T (p.Ser133Cys)
c.*7+11874T>A (n.*7+11874T>A)
20g.34269156_34269191delCA2652532345AHCY,ASIPc.388_*24del (n.[c.388_*24del;Leu130ArgfsTer14])
c.400_*24del (n.[c.400_*24del;Leu134ArgfsTer14])
c.*7+11839_*7+11874del (n.*7+11839_*7+11874del)
 gnomAD v4
20g.34269154G>ACA408649062AHCY,ASIPc.386G>A (p.Ser129Asn)
c.398G>A (p.Ser133Asn)
c.*7+11873C>T (n.*7+11873C>T)
 gnomAD v4
20g.34269154G>CCA408649065AHCY,ASIPc.386G>C (p.Ser129Thr)
c.398G>C (p.Ser133Thr)
c.*7+11873C>G (n.*7+11873C>G)
 gnomAD v4
20g.34269154G>TCA408649064AHCY,ASIPc.386G>T (p.Ser129Ile)
c.398G>T (p.Ser133Ile)
c.*7+11873C>A (n.*7+11873C>A)
 gnomAD v4
20g.34269155C>ACA408649067AHCY,ASIPc.387C>A (p.Ser129Arg)
c.399C>A (p.Ser133Arg)
c.*7+11872G>T (n.*7+11872G>T)
 gnomAD v4
20g.34269155C=CA2361127767AHCY,ASIPc.387C= (p.Ser129=)
c.399C= (p.Ser133=)
c.*7+11872G= (n.*7+11872G=)
20g.34269155C>GCA408649069AHCY,ASIPc.387C>G (p.Ser129Arg)
c.399C>G (p.Ser133Arg)
c.*7+11872G>C (n.*7+11872G>C)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
20g.34269155C>TCA510271257AHCY,ASIPc.387C>T (p.Ser129=)
c.399C>T (p.Ser133=)
c.*7+11872G>A (n.*7+11872G>A)
20g.34269156C>ACA408649072AHCY,ASIPc.388C>A (p.Leu130Ile)
c.400C>A (p.Leu134Ile)
c.*7+11871G>T (n.*7+11871G>T)
 gnomAD v4
20g.34269156C=CA2361127768AHCY,ASIPc.388C= (p.Leu130=)
c.400C= (p.Leu134=)
c.*7+11871G= (n.*7+11871G=)
20g.34269156C>GCA408649074AHCY,ASIPc.388C>G (p.Leu130Val)
c.400C>G (p.Leu134Val)
c.*7+11871G>C (n.*7+11871G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269156C>TCA408649075AHCY,ASIPc.388C>T (p.Leu130Phe)
c.400C>T (p.Leu134Phe)
c.*7+11871G>A (n.*7+11871G>A)
 gnomAD v4
20g.34269157T>ACA408649077AHCY,ASIPc.389T>A (p.Leu130His)
c.401T>A (p.Leu134His)
c.*7+11870A>T (n.*7+11870A>T)
 dbSNP
20g.34269157T>CCA408649078AHCY,ASIPc.389T>C (p.Leu130Pro)
c.401T>C (p.Leu134Pro)
c.*7+11870A>G (n.*7+11870A>G)
20g.34269157T>GCA408649080AHCY,ASIPc.389T>G (p.Leu130Arg)
c.401T>G (p.Leu134Arg)
c.*7+11870A>C (n.*7+11870A>C)
20g.34269157T=CA2361127769AHCY,ASIPc.389T= (p.Leu130=)
c.401T= (p.Leu134=)
c.*7+11870A= (n.*7+11870A=)
20g.34269158C>ACA510271259AHCY,ASIPc.390C>A (p.Leu130=)
c.402C>A (p.Leu134=)
c.*7+11869G>T (n.*7+11869G>T)
 gnomAD v4
20g.34269158C=CA2361127770AHCY,ASIPc.390C= (p.Leu130=)
c.402C= (p.Leu134=)
c.*7+11869G= (n.*7+11869G=)
20g.34269158C>GCA510271260AHCY,ASIPc.390C>G (p.Leu130=)
c.402C>G (p.Leu134=)
c.*7+11869G>C (n.*7+11869G>C)
20g.34269158C>TCA510271261AHCY,ASIPc.390C>T (p.Leu130=)
c.402C>T (p.Leu134=)
c.*7+11869G>A (n.*7+11869G>A)
 dbSNP gnomAD v4
20g.34269159A=CA2361127771AHCY,ASIPc.391A= (p.Asn131=)
c.403A= (p.Asn135=)
c.*7+11868T= (n.*7+11868T=)
20g.34269159A>CCA9820714AHCY,ASIPc.391A>C (p.Asn131His)
c.403A>C (p.Asn135His)
c.*7+11868T>G (n.*7+11868T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269159A>GCA408649083AHCY,ASIPc.391A>G (p.Asn131Asp)
c.403A>G (p.Asn135Asp)
c.*7+11868T>C (n.*7+11868T>C)
 gnomAD v4
20g.34269159A>TCA408649084AHCY,ASIPc.391A>T (p.Asn131Tyr)
c.403A>T (p.Asn135Tyr)
c.*7+11868T>A (n.*7+11868T>A)
20g.34269160A>CCA408649091AHCY,ASIPc.392A>C (p.Asn131Thr)
c.404A>C (p.Asn135Thr)
c.*7+11867T>G (n.*7+11867T>G)
20g.34269160A>GCA408649089AHCY,ASIPc.392A>G (p.Asn131Ser)
c.404A>G (p.Asn135Ser)
c.*7+11867T>C (n.*7+11867T>C)
20g.34269160A>TCA408649087AHCY,ASIPc.392A>T (p.Asn131Ile)
c.404A>T (p.Asn135Ile)
c.*7+11867T>A (n.*7+11867T>A)
20g.34269161C>ACA408649093AHCY,ASIPc.393C>A (p.Asn131Lys)
c.405C>A (p.Asn135Lys)
c.*7+11866G>T (n.*7+11866G>T)
20g.34269161C>GCA408649096AHCY,ASIPc.393C>G (p.Asn131Lys)
c.405C>G (p.Asn135Lys)
c.*7+11866G>C (n.*7+11866G>C)
20g.34269161C>TCA510271265AHCY,ASIPc.393C>T (p.Asn131=)
c.405C>T (p.Asn135=)
c.*7+11866G>A (n.*7+11866G>A)
20g.34269162T>ACA408649098AHCY,ASIPc.394T>A (p.Cys132Ser)
c.406T>A (p.Cys136Ser)
c.*7+11865A>T (n.*7+11865A>T)
20g.34269162T>CCA408649100AHCY,ASIPc.394T>C (p.Cys132Arg)
c.406T>C (p.Cys136Arg)
c.*7+11865A>G (n.*7+11865A>G)
20g.34269162T>GCA408649102AHCY,ASIPc.394T>G (p.Cys132Gly)
c.406T>G (p.Cys136Gly)
c.*7+11865A>C (n.*7+11865A>C)
20g.34269163G>ACA408649105AHCY,ASIPc.395G>A (p.Cys132Tyr)
c.407G>A (p.Cys136Tyr)
c.*7+11864C>T (n.*7+11864C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.34269163G>CCA408649107AHCY,ASIPc.395G>C (p.Cys132Ser)
c.407G>C (p.Cys136Ser)
c.*7+11864C>G (n.*7+11864C>G)
20g.34269163G=CA2361127772AHCY,ASIPc.395G= (p.Cys132=)
c.407G= (p.Cys136=)
c.*7+11864C= (n.*7+11864C=)
20g.34269163G>TCA408649109AHCY,ASIPc.395G>T (p.Cys132Phe)
c.407G>T (p.Cys136Phe)
c.*7+11864C>A (n.*7+11864C>A)
 gnomAD v4
20g.34269164C>ACA408649112AHCY,ASIPc.396C>A (p.Cys132Ter)
c.408C>A (p.Cys136Ter)
c.*7+11863G>T (n.*7+11863G>T)
20g.34269164C>GCA408649113AHCY,ASIPc.396C>G (p.Cys132Trp)
c.408C>G (p.Cys136Trp)
c.*7+11863G>C (n.*7+11863G>C)
 dbSNP
20g.34269164C>TCA510271267AHCY,ASIPc.396C>T (p.Cys132=)
c.408C>T (p.Cys136=)
c.*7+11863G>A (n.*7+11863G>A)
 gnomAD v4
20g.34269165T>ACA408649116AHCY,ASIPc.397T>A (p.Ter133Arg)
c.409T>A (p.Ter137Arg)
c.*7+11862A>T (n.*7+11862A>T)
20g.34269165T>CCA408649117AHCY,ASIPc.397T>C (p.Ter133Arg)
c.409T>C (p.Ter137Arg)
c.*7+11862A>G (n.*7+11862A>G)
 gnomAD v4
20g.34269165T>GCA408649119AHCY,ASIPc.397T>G (p.Ter133Gly)
c.409T>G (p.Ter137Gly)
c.*7+11862A>C (n.*7+11862A>C)
20g.34269165dupCA2652532346AHCY,ASIPc.397dup (p.Ter133LeuextTer?)
c.409dup (p.Ter137LeuextTer?)
c.*7+11862dup (n.*7+11862dup)
 gnomAD v4
20g.34269166G>ACA313334720AHCY,ASIPc.398G>A (p.Ter133=)
c.410G>A (p.Ter137=)
c.*7+11861C>T (n.*7+11861C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269166G>CCA408649122AHCY,ASIPc.398G>C (p.Ter133Ser)
c.410G>C (p.Ter137Ser)
c.*7+11861C>G (n.*7+11861C>G)
20g.34269166G=CA2361127773AHCY,ASIPc.398G= (p.Ter133=)
c.410G= (p.Ter137=)
c.*7+11861C= (n.*7+11861C=)
20g.34269166G>TCA408649123AHCY,ASIPc.398G>T (p.Ter133Leu)
c.410G>T (p.Ter137Leu)
c.*7+11861C>A (n.*7+11861C>A)
20g.34269167A=CA2361127774AHCY,ASIPc.399A= (p.Ter133=)
c.411A= (p.Ter137=)
c.*7+11860T= (n.*7+11860T=)
20g.34269167A>CCA408649126AHCY,ASIPc.399A>C (p.Ter133Cys)
c.411A>C (p.Ter137Cys)
c.*7+11860T>G (n.*7+11860T>G)
20g.34269167A>GCA408649127AHCY,ASIPc.399A>G (p.Ter133Trp)
c.411A>G (p.Ter137Trp)
c.*7+11860T>C (n.*7+11860T>C)
 gnomAD v4
20g.34269167A>TCA313334736AHCY,ASIPc.399A>T (p.Ter133Cys)
c.411A>T (p.Ter137Cys)
c.*7+11860T>A (n.*7+11860T>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34269168G>ACA2652532347AHCY,ASIPc.*1G>A (n.*1G>A)
c.*7+11859C>T (n.*7+11859C>T)
 gnomAD v4
20g.34269169C>ACA2652532348AHCY,ASIPc.*2C>A (n.*2C>A)
c.*7+11858G>T (n.*7+11858G>T)
 gnomAD v4
20g.34269169C>GCA2577375041AHCY,ASIPc.*2C>G (n.*2C>G)
c.*7+11858G>C (n.*7+11858G>C)
20g.34269169C>TCA2652532349AHCY,ASIPc.*2C>T (n.*2C>T)
c.*7+11858G>A (n.*7+11858G>A)
 gnomAD v4
20g.34269170G>ACA1017103663AHCY,ASIPc.*3G>A (n.*3G>A)
c.*7+11857C>T (n.*7+11857C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269170G=CA2361127775AHCY,ASIPc.*3G= (n.*3G=)
c.*7+11857C= (n.*7+11857C=)
20g.34269170G>TCA2652532350AHCY,ASIPc.*3G>T (n.*3G>T)
c.*7+11857C>A (n.*7+11857C>A)
 gnomAD v4
20g.34269171C>ACA2652532353AHCY,ASIPc.*4C>A (n.*4C>A)
c.*7+11856G>T (n.*7+11856G>T)
 gnomAD v4
20g.34269171C=CA2361127776AHCY,ASIPc.*4C= (n.*4C=)
c.*7+11856G= (n.*7+11856G=)
20g.34269171C>TCA1017103665AHCY,ASIPc.*4C>T (n.*4C>T)
c.*7+11856G>A (n.*7+11856G>A)
 dbSNP gnomAD v3 gnomAD v4
20g.34269175dupCA2816205322AHCY,ASIPc.*8dup (n.*8dup)
c.*7+11856dup (n.*7+11856dup)
20g.34269174_34269175dupCA2652532352AHCY,ASIPc.*7_*8dup (n.*7_*8dup)
c.*7+11855_*7+11856dup (n.*7+11855_*7+11856dup)
 gnomAD v4
20g.34269175delCA2652532351AHCY,ASIPc.*8del (n.*8del)
c.*7+11856del (n.*7+11856del)
 gnomAD v4
20g.34269172C>ACA2652532354AHCY,ASIPc.*5C>A (n.*5C>A)
c.*7+11855G>T (n.*7+11855G>T)
 gnomAD v4
20g.34269172C>TCA2652532355AHCY,ASIPc.*5C>T (n.*5C>T)
c.*7+11855G>A (n.*7+11855G>A)
 gnomAD v4
20g.34269173C>ACA2652532356AHCY,ASIPc.*6C>A (n.*6C>A)
c.*7+11854G>T (n.*7+11854G>T)
 gnomAD v4
20g.34269173C>TCA2652532357AHCY,ASIPc.*6C>T (n.*6C>T)
c.*7+11854G>A (n.*7+11854G>A)
 gnomAD v4
20g.34269174C>ACA2577375042AHCY,ASIPc.*7C>A (n.*7C>A)
c.*7+11853G>T (n.*7+11853G>T)
 gnomAD v4
20g.34269174C=CA2361127777AHCY,ASIPc.*7C= (n.*7C=)
c.*7+11853G= (n.*7+11853G=)
20g.34269174C>GCA1017103667AHCY,ASIPc.*7C>G (n.*7C>G)
c.*7+11853G>C (n.*7+11853G>C)
 dbSNP gnomAD v4
20g.34269174C>TCA635720203AHCY,ASIPc.*7C>T (n.*7C>T)
c.*7+11853G>A (n.*7+11853G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269175C>ACA743840789AHCY,ASIPc.*8C>A (n.*8C>A)
c.*7+11852G>T (n.*7+11852G>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269175C=CA2361127778AHCY,ASIPc.*8C= (n.*8C=)
c.*7+11852G= (n.*7+11852G=)
20g.34269175C>GCA313334744AHCY,ASIPc.*8C>G (n.*8C>G)
c.*7+11852G>C (n.*7+11852G>C)
 dbSNP gnomAD v4
20g.34269175C>TCA2736427912AHCY,ASIPc.*8C>T (n.*8C>T)
c.*7+11852G>A (n.*7+11852G>A)
 dbSNP
20g.34269176A=CA2361127779AHCY,ASIPc.*9A= (n.*9A=)
c.*7+11851T= (n.*7+11851T=)
20g.34269176A>CCA2652532358AHCY,ASIPc.*9A>C (n.*9A>C)
c.*7+11851T>G (n.*7+11851T>G)
 gnomAD v4
20g.34269176A>GCA635720206AHCY,ASIPc.*9A>G (n.*9A>G)
c.*7+11851T>C (n.*7+11851T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269176A>TCA743840800AHCY,ASIPc.*9A>T (n.*9A>T)
c.*7+11851T>A (n.*7+11851T>A)
 dbSNP gnomAD v4
20g.34269177C>TCA2652532359AHCY,ASIPc.*10C>T (n.*10C>T)
c.*7+11850G>A (n.*7+11850G>A)
 gnomAD v4
20g.34269178T>GCA2652532360AHCY,ASIPc.*11T>G (n.*11T>G)
c.*7+11849A>C (n.*7+11849A>C)
 gnomAD v4
20g.34269179C>ACA1017103673AHCY,ASIPc.*12C>A (n.*12C>A)
c.*7+11848G>T (n.*7+11848G>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269179C=CA2361127780AHCY,ASIPc.*12C= (n.*12C=)
c.*7+11848G= (n.*7+11848G=)
20g.34269179C>TCA2652532361AHCY,ASIPc.*12C>T (n.*12C>T)
c.*7+11848G>A (n.*7+11848G>A)
 gnomAD v4
20g.34269180C>ACA313334749AHCY,ASIPc.*13C>A (n.*13C>A)
c.*7+11847G>T (n.*7+11847G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269180C=CA2361127781AHCY,ASIPc.*13C= (n.*13C=)
c.*7+11847G= (n.*7+11847G=)
20g.34269180C>TCA2652532362AHCY,ASIPc.*13C>T (n.*13C>T)
c.*7+11847G>A (n.*7+11847G>A)
 gnomAD v4
20g.34269181C>ACA2652532363AHCY,ASIPc.*14C>A (n.*14C>A)
c.*7+11846G>T (n.*7+11846G>T)
 gnomAD v4
20g.34269181C=CA2361127782AHCY,ASIPc.*14C= (n.*14C=)
c.*7+11846G= (n.*7+11846G=)
20g.34269181C>GCA1017103680AHCY,ASIPc.*14C>G (n.*14C>G)
c.*7+11846G>C (n.*7+11846G>C)
 dbSNP gnomAD v3 gnomAD v4
20g.34269181C>TCA2577375043AHCY,ASIPc.*14C>T (n.*14C>T)
c.*7+11846G>A (n.*7+11846G>A)
20g.34269182G>ACA2577375044AHCY,ASIPc.*15G>A (n.*15G>A)
c.*7+11845C>T (n.*7+11845C>T)
 gnomAD v4
20g.34269182G>CCA635720208AHCY,ASIPc.*15G>C (n.*15G>C)
c.*7+11845C>G (n.*7+11845C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269182G=CA2361127784AHCY,ASIPc.*15G= (n.*15G=)
c.*7+11845C= (n.*7+11845C=)
20g.34269183dupCA2361127783AHCY,ASIPc.*16dup (n.*16dup)
c.*7+11845dup (n.*7+11845dup)
 dbSNP
20g.34269183G>ACA2652532364AHCY,ASIPc.*16G>A (n.*16G>A)
c.*7+11844C>T (n.*7+11844C>T)
 gnomAD v4
20g.34269183G>TCA2652532365AHCY,ASIPc.*16G>T (n.*16G>T)
c.*7+11844C>A (n.*7+11844C>A)
 gnomAD v4
20g.34269184C>ACA2652532366AHCY,ASIPc.*17C>A (n.*17C>A)
c.*7+11843G>T (n.*7+11843G>T)
 gnomAD v4
20g.34269185C>ACA2652532367AHCY,ASIPc.*18C>A (n.*18C>A)
c.*7+11842G>T (n.*7+11842G>T)
 gnomAD v4
20g.34269186G>ACA2652532368AHCY,ASIPc.*19G>A (n.*19G>A)
c.*7+11841C>T (n.*7+11841C>T)
 gnomAD v4
20g.34269186G=CA2361127785AHCY,ASIPc.*19G= (n.*19G=)
c.*7+11841C= (n.*7+11841C=)
20g.34269186G>TCA9820715AHCY,ASIPc.*19G>T (n.*19G>T)
c.*7+11841C>A (n.*7+11841C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269187C>ACA2652532369AHCY,ASIPc.*20C>A (n.*20C>A)
c.*7+11840G>T (n.*7+11840G>T)
 gnomAD v4
20g.34269187C>GCA2652532370AHCY,ASIPc.*20C>G (n.*20C>G)
c.*7+11840G>C (n.*7+11840G>C)
 gnomAD v4
20g.34269187C>TCA2652532371AHCY,ASIPc.*20C>T (n.*20C>T)
c.*7+11840G>A (n.*7+11840G>A)
 gnomAD v4
20g.34269188G>ACA635720210AHCY,ASIPc.*21G>A (n.*21G>A)
c.*7+11839C>T (n.*7+11839C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.34269188G=CA2361127786AHCY,ASIPc.*21G= (n.*21G=)
c.*7+11839C= (n.*7+11839C=)
20g.34269188G>TCA2652532373AHCY,ASIPc.*21G>T (n.*21G>T)
c.*7+11839C>A (n.*7+11839C>A)
 gnomAD v4
20g.34269188dupCA2652532372AHCY,ASIPc.*21dup (n.*21dup)
c.*7+11839dup (n.*7+11839dup)
 gnomAD v4
20g.34269189A>CCA2652532374AHCY,ASIPc.*22A>C (n.*22A>C)
c.*7+11838T>G (n.*7+11838T>G)
 gnomAD v4
20g.34269189A>GCA2652532375AHCY,ASIPc.*22A>G (n.*22A>G)
c.*7+11838T>C (n.*7+11838T>C)
 gnomAD v4
20g.34269190G>ACA2652532376AHCY,ASIPc.*23G>A (n.*23G>A)
c.*7+11837C>T (n.*7+11837C>T)
 gnomAD v4
20g.34269190G=CA2361127787AHCY,ASIPc.*23G= (n.*23G=)
c.*7+11837C= (n.*7+11837C=)
20g.34269190G>TCA635720213AHCY,ASIPc.*23G>T (n.*23G>T)
c.*7+11837C>A (n.*7+11837C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269191C>ACA2652532377AHCY,ASIPc.*24C>A (n.*24C>A)
c.*7+11836G>T (n.*7+11836G>T)
 gnomAD v4
20g.34269191C=CA2361127788AHCY,ASIPc.*24C= (n.*24C=)
c.*7+11836G= (n.*7+11836G=)
20g.34269191C>GCA635720215AHCY,ASIPc.*24C>G (n.*24C>G)
c.*7+11836G>C (n.*7+11836G>C)
 dbSNP gnomAD v2 gnomAD v4
20g.34269191C>TCA2652532378AHCY,ASIPc.*24C>T (n.*24C>T)
c.*7+11836G>A (n.*7+11836G>A)
 gnomAD v4
20g.34269192A=CA2361127789AHCY,ASIPc.*25A= (n.*25A=)
c.*7+11835T= (n.*7+11835T=)
20g.34269192A>CCA2580609036AHCY,ASIPc.*25A>C (n.*25A>C)
c.*7+11835T>G (n.*7+11835T>G)
 gnomAD v4
20g.34269192A>GCA120289AHCY,ASIPc.*25A>G (n.*25A>G)
c.*7+11835T>C (n.*7+11835T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.34269192A>TCA2580609037AHCY,ASIPc.*25A>T (n.*25A>T)
c.*7+11835T>A (n.*7+11835T>A)
 gnomAD v4
20g.34269193G>ACA2816205326AHCY,ASIPc.*26G>A (n.*26G>A)
c.*7+11834C>T (n.*7+11834C>T)
20g.34269193G>CCA9820716AHCY,ASIPc.*26G>C (n.*26G>C)
c.*7+11834C>G (n.*7+11834C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.34269193G=CA2361127790AHCY,ASIPc.*26G= (n.*26G=)
c.*7+11834C= (n.*7+11834C=)
20g.34269193G>TCA2652532379AHCY,ASIPc.*26G>T (n.*26G>T)
c.*7+11834C>A (n.*7+11834C>A)
 gnomAD v4
20g.34269194G>ACA2516236823AHCY,ASIPc.*27G>A (n.*27G>A)
c.*7+11833C>T (n.*7+11833C>T)
 gnomAD v4
20g.34269194G=CA2361127791AHCY,ASIPc.*27G= (n.*27G=)
c.*7+11833C= (n.*7+11833C=)
20g.34269194G>TCA635720221AHCY,ASIPc.*27G>T (n.*27G>T)
c.*7+11833C>A (n.*7+11833C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269195C>ACA2577375045AHCY,ASIPc.*28C>A (n.*28C>A)
c.*7+11832G>T (n.*7+11832G>T)
 gnomAD v4
20g.34269195C=CA2361127792AHCY,ASIPc.*28C= (n.*28C=)
c.*7+11832G= (n.*7+11832G=)
20g.34269195C>GCA635720223AHCY,ASIPc.*28C>G (n.*28C>G)
c.*7+11832G>C (n.*7+11832G>C)
 dbSNP gnomAD v2
20g.34269195C>TCA2652532380AHCY,ASIPc.*28C>T (n.*28C>T)
c.*7+11832G>A (n.*7+11832G>A)
 gnomAD v4
20g.34269196A=CA2361127793AHCY,ASIPc.*29A= (n.*29A=)
c.*7+11831T= (n.*7+11831T=)
20g.34269196A>TCA2361127794AHCY,ASIPc.*29A>T (n.*29A>T)
c.*7+11831T>A (n.*7+11831T>A)
 dbSNP
20g.34269197G>ACA743840823AHCY,ASIPc.*30G>A (n.*30G>A)
c.*7+11830C>T (n.*7+11830C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269197G=CA2361127795AHCY,ASIPc.*30G= (n.*30G=)
c.*7+11830C= (n.*7+11830C=)
20g.34269197G>TCA635720226AHCY,ASIPc.*30G>T (n.*30G>T)
c.*7+11830C>A (n.*7+11830C>A)
 dbSNP gnomAD v2 gnomAD v4
20g.34269198G>ACA743840827AHCY,ASIPc.*31G>A (n.*31G>A)
c.*7+11829C>T (n.*7+11829C>T)
 dbSNP gnomAD v3 gnomAD v4
20g.34269198G=CA2361127796AHCY,ASIPc.*31G= (n.*31G=)
c.*7+11829C= (n.*7+11829C=)
20g.34269199G>ACA2652532381AHCY,ASIPc.*32G>A (n.*32G>A)
c.*7+11828C>T (n.*7+11828C>T)
 gnomAD v4
20g.34269200C>ACA635720229AHCY,ASIPc.*33C>A (n.*33C>A)
c.*7+11827G>T (n.*7+11827G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.34269200C=CA2361127797AHCY,ASIPc.*33C= (n.*33C=)
c.*7+11827G= (n.*7+11827G=)
20g.34269201T>ACA2652532382AHCY,ASIPc.*34T>A (n.*34T>A)
c.*7+11826A>T (n.*7+11826A>T)
 gnomAD v4

Number of alleles fetched