Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.34269088_34269105dup | CA2652532342 | AHCY,ASIP | c.320_337dup (p.Ala112_Ser113insCysCysAspProCysAla) c.332_349dup (p.Ala116_Ser117insCysCysAspProCysAla) c.*7+11927_*7+11944dup (n.*7+11927_*7+11944dup) | gnomAD v4 |
20 | g.34269102_34269110dup | CA2652532343 | AHCY,ASIP | c.334_342dup (p.Cys114_Gln115insAlaSerCys) c.346_354dup (p.Cys118_Gln119insAlaSerCys) c.*7+11920_*7+11928dup (n.*7+11920_*7+11928dup) | gnomAD v4 |
20 | g.34269100_34269125delinsGCGCCTCCTGCCAGTGCCGCTTCTTC | CA2361127737 | AHCY,ASIP | c.332_357delinsGCGCCTCCTGCCAGTGCCGCTTCTTC (p.Cys111=) c.344_369delinsGCGCCTCCTGCCAGTGCCGCTTCTTC (p.Cys115=) c.*7+11902_*7+11927delinsGAAGAAGCGGCACTGGCAGGAGGCGC (n.*7+11902_*7+11927delinsGAAGAAGCGGCACTGGCAGGAGGCGC) | |
20 | g.34269101C>A | CA408648695 | AHCY,ASIP | c.333C>A (p.Cys111Ter) c.345C>A (p.Cys115Ter) c.*7+11926G>T (n.*7+11926G>T) | gnomAD v4 |
20 | g.34269101C>G | CA408648697 | AHCY,ASIP | c.333C>G (p.Cys111Trp) c.345C>G (p.Cys115Trp) c.*7+11926G>C (n.*7+11926G>C) | |
20 | g.34269101C>T | CA510271215 | AHCY,ASIP | c.333C>T (p.Cys111=) c.345C>T (p.Cys115=) c.*7+11926G>A (n.*7+11926G>A) | gnomAD v4 |
20 | g.34269104_34269128del | CA9820708 | AHCY,ASIP | c.336_360del (p.Ser113AlafsTer?) c.348_372del (p.Ser117AlafsTer?) c.*7+11902_*7+11926del (n.*7+11902_*7+11926del) | dbSNP ExAC gnomAD v2 |
20 | g.34269102G>A | CA408648724 | AHCY,ASIP | c.334G>A (p.Ala112Thr) c.346G>A (p.Ala116Thr) c.*7+11925C>T (n.*7+11925C>T) | gnomAD v4 |
20 | g.34269102G>C | CA408648726 | AHCY,ASIP | c.334G>C (p.Ala112Pro) c.346G>C (p.Ala116Pro) c.*7+11925C>G (n.*7+11925C>G) | |
20 | g.34269102G>T | CA408648728 | AHCY,ASIP | c.334G>T (p.Ala112Ser) c.346G>T (p.Ala116Ser) c.*7+11925C>A (n.*7+11925C>A) | gnomAD v4 |
20 | g.34269103C>A | CA408648732 | AHCY,ASIP | c.335C>A (p.Ala112Asp) c.347C>A (p.Ala116Asp) c.*7+11924G>T (n.*7+11924G>T) | dbSNP |
20 | g.34269103C= | CA2361127739 | AHCY,ASIP | c.335C= (p.Ala112=) c.347C= (p.Ala116=) c.*7+11924G= (n.*7+11924G=) | |
20 | g.34269103C>G | CA408648734 | AHCY,ASIP | c.335C>G (p.Ala112Gly) c.347C>G (p.Ala116Gly) c.*7+11924G>C (n.*7+11924G>C) | |
20 | g.34269103C>T | CA408648737 | AHCY,ASIP | c.335C>T (p.Ala112Val) c.347C>T (p.Ala116Val) c.*7+11924G>A (n.*7+11924G>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269104C>A | CA510271216 | AHCY,ASIP | c.336C>A (p.Ala112=) c.348C>A (p.Ala116=) c.*7+11923G>T (n.*7+11923G>T) | |
20 | g.34269104C= | CA2361127740 | AHCY,ASIP | c.336C= (p.Ala112=) c.348C= (p.Ala116=) c.*7+11923G= (n.*7+11923G=) | |
20 | g.34269104C>G | CA510271217 | AHCY,ASIP | c.336C>G (p.Ala112=) c.348C>G (p.Ala116=) c.*7+11923G>C (n.*7+11923G>C) | gnomAD v4 |
20 | g.34269104C>T | CA510271218 | AHCY,ASIP | c.336C>T (p.Ala112=) c.348C>T (p.Ala116=) c.*7+11923G>A (n.*7+11923G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269105T>A | CA408648740 | AHCY,ASIP | c.337T>A (p.Ser113Thr) c.349T>A (p.Ser117Thr) c.*7+11922A>T (n.*7+11922A>T) | |
20 | g.34269105T>C | CA408648741 | AHCY,ASIP | c.337T>C (p.Ser113Pro) c.349T>C (p.Ser117Pro) c.*7+11922A>G (n.*7+11922A>G) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269105T>G | CA408648742 | AHCY,ASIP | c.337T>G (p.Ser113Ala) c.349T>G (p.Ser117Ala) c.*7+11922A>C (n.*7+11922A>C) | |
20 | g.34269105T= | CA2361127741 | AHCY,ASIP | c.337T= (p.Ser113=) c.349T= (p.Ser117=) c.*7+11922A= (n.*7+11922A=) | |
20 | g.34269106C>A | CA408648745 | AHCY,ASIP | c.338C>A (p.Ser113Tyr) c.350C>A (p.Ser117Tyr) c.*7+11921G>T (n.*7+11921G>T) | gnomAD v4 |
20 | g.34269106C>G | CA408648743 | AHCY,ASIP | c.338C>G (p.Ser113Cys) c.350C>G (p.Ser117Cys) c.*7+11921G>C (n.*7+11921G>C) | |
20 | g.34269106C>T | CA408648744 | AHCY,ASIP | c.338C>T (p.Ser113Phe) c.350C>T (p.Ser117Phe) c.*7+11921G>A (n.*7+11921G>A) | |
20 | g.34269107dup | CA2842741622 | AHCY,ASIP | c.339dup (p.Cys114LeufsTer?) c.351dup (p.Cys118LeufsTer?) c.*7+11921dup (n.*7+11921dup) | |
20 | g.34269107C>A | CA510271219 | AHCY,ASIP | c.339C>A (p.Ser113=) c.351C>A (p.Ser117=) c.*7+11920G>T (n.*7+11920G>T) | gnomAD v4 |
20 | g.34269107C>G | CA510271220 | AHCY,ASIP | c.339C>G (p.Ser113=) c.351C>G (p.Ser117=) c.*7+11920G>C (n.*7+11920G>C) | |
20 | g.34269107C>T | CA510271221 | AHCY,ASIP | c.339C>T (p.Ser113=) c.351C>T (p.Ser117=) c.*7+11920G>A (n.*7+11920G>A) | gnomAD v4 |
20 | g.34269108T>A | CA408648746 | AHCY,ASIP | c.340T>A (p.Cys114Ser) c.352T>A (p.Cys118Ser) c.*7+11919A>T (n.*7+11919A>T) | |
20 | g.34269108T>C | CA408648748 | AHCY,ASIP | c.340T>C (p.Cys114Arg) c.352T>C (p.Cys118Arg) c.*7+11919A>G (n.*7+11919A>G) | gnomAD v4 |
20 | g.34269108T>G | CA408648751 | AHCY,ASIP | c.340T>G (p.Cys114Gly) c.352T>G (p.Cys118Gly) c.*7+11919A>C (n.*7+11919A>C) | |
20 | g.34269109G>A | CA408648754 | AHCY,ASIP | c.341G>A (p.Cys114Tyr) c.353G>A (p.Cys118Tyr) c.*7+11918C>T (n.*7+11918C>T) | gnomAD v4 |
20 | g.34269109G>C | CA408648759 | AHCY,ASIP | c.341G>C (p.Cys114Ser) c.353G>C (p.Cys118Ser) c.*7+11918C>G (n.*7+11918C>G) | |
20 | g.34269109G>T | CA408648765 | AHCY,ASIP | c.341G>T (p.Cys114Phe) c.353G>T (p.Cys118Phe) c.*7+11918C>A (n.*7+11918C>A) | |
20 | g.34269110C>A | CA408648767 | AHCY,ASIP | c.342C>A (p.Cys114Ter) c.354C>A (p.Cys118Ter) c.*7+11917G>T (n.*7+11917G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269110C= | CA2361127742 | AHCY,ASIP | c.342C= (p.Cys114=) c.354C= (p.Cys118=) c.*7+11917G= (n.*7+11917G=) | |
20 | g.34269110C>G | CA408648770 | AHCY,ASIP | c.342C>G (p.Cys114Trp) c.354C>G (p.Cys118Trp) c.*7+11917G>C (n.*7+11917G>C) | |
20 | g.34269110C>T | CA510271222 | AHCY,ASIP | c.342C>T (p.Cys114=) c.354C>T (p.Cys118=) c.*7+11917G>A (n.*7+11917G>A) | gnomAD v4 |
20 | g.34269111C>A | CA408648774 | AHCY,ASIP | c.343C>A (p.Gln115Lys) c.355C>A (p.Gln119Lys) c.*7+11916G>T (n.*7+11916G>T) | |
20 | g.34269111C>G | CA408648776 | AHCY,ASIP | c.343C>G (p.Gln115Glu) c.355C>G (p.Gln119Glu) c.*7+11916G>C (n.*7+11916G>C) | |
20 | g.34269111C>T | CA408648779 | AHCY,ASIP | c.343C>T (p.Gln115Ter) c.355C>T (p.Gln119Ter) c.*7+11916G>A (n.*7+11916G>A) | gnomAD v4 |
20 | g.34269112A>C | CA408648781 | AHCY,ASIP | c.344A>C (p.Gln115Pro) c.356A>C (p.Gln119Pro) c.*7+11915T>G (n.*7+11915T>G) | |
20 | g.34269112A>G | CA408648782 | AHCY,ASIP | c.344A>G (p.Gln115Arg) c.356A>G (p.Gln119Arg) c.*7+11915T>C (n.*7+11915T>C) | |
20 | g.34269112A>T | CA408648780 | AHCY,ASIP | c.344A>T (p.Gln115Leu) c.356A>T (p.Gln119Leu) c.*7+11915T>A (n.*7+11915T>A) | |
20 | g.34269113G>A | CA510271223 | AHCY,ASIP | c.345G>A (p.Gln115=) c.357G>A (p.Gln119=) c.*7+11914C>T (n.*7+11914C>T) | |
20 | g.34269113G>C | CA408648786 | AHCY,ASIP | c.345G>C (p.Gln115His) c.357G>C (p.Gln119His) c.*7+11914C>G (n.*7+11914C>G) | |
20 | g.34269113G>T | CA408648789 | AHCY,ASIP | c.345G>T (p.Gln115His) c.357G>T (p.Gln119His) c.*7+11914C>A (n.*7+11914C>A) | |
20 | g.34269114T>A | CA408648792 | AHCY,ASIP | c.346T>A (p.Cys116Ser) c.358T>A (p.Cys120Ser) c.*7+11913A>T (n.*7+11913A>T) | |
20 | g.34269114T>C | CA313334681 | AHCY,ASIP | c.346T>C (p.Cys116Arg) c.358T>C (p.Cys120Arg) c.*7+11913A>G (n.*7+11913A>G) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269114T>G | CA408648798 | AHCY,ASIP | c.346T>G (p.Cys116Gly) c.358T>G (p.Cys120Gly) c.*7+11913A>C (n.*7+11913A>C) | |
20 | g.34269114T= | CA2361127743 | AHCY,ASIP | c.346T= (p.Cys116=) c.358T= (p.Cys120=) c.*7+11913A= (n.*7+11913A=) | |
20 | g.34269115G>A | CA408648803 | AHCY,ASIP | c.347G>A (p.Cys116Tyr) c.359G>A (p.Cys120Tyr) c.*7+11912C>T (n.*7+11912C>T) | gnomAD v4 |
20 | g.34269115G>C | CA408648807 | AHCY,ASIP | c.347G>C (p.Cys116Ser) c.359G>C (p.Cys120Ser) c.*7+11912C>G (n.*7+11912C>G) | gnomAD v4 |
20 | g.34269115G>T | CA408648809 | AHCY,ASIP | c.347G>T (p.Cys116Phe) c.359G>T (p.Cys120Phe) c.*7+11912C>A (n.*7+11912C>A) | gnomAD v4 |
20 | g.34269116C>A | CA408648814 | AHCY,ASIP | c.348C>A (p.Cys116Ter) c.360C>A (p.Cys120Ter) c.*7+11911G>T (n.*7+11911G>T) | gnomAD v4 |
20 | g.34269116C= | CA2361127744 | AHCY,ASIP | c.348C= (p.Cys116=) c.360C= (p.Cys120=) c.*7+11911G= (n.*7+11911G=) | |
20 | g.34269116C>G | CA408648817 | AHCY,ASIP | c.348C>G (p.Cys116Trp) c.360C>G (p.Cys120Trp) c.*7+11911G>C (n.*7+11911G>C) | |
20 | g.34269116C>T | CA510271224 | AHCY,ASIP | c.348C>T (p.Cys116=) c.360C>T (p.Cys120=) c.*7+11911G>A (n.*7+11911G>A) | dbSNP gnomAD v4 |
20 | g.34269117C>A | CA408648820 | AHCY,ASIP | c.349C>A (p.Arg117Ser) c.361C>A (p.Arg121Ser) c.*7+11910G>T (n.*7+11910G>T) | gnomAD v4 |
20 | g.34269117C= | CA2361127745 | AHCY,ASIP | c.349C= (p.Arg117=) c.361C= (p.Arg121=) c.*7+11910G= (n.*7+11910G=) | |
20 | g.34269117C>G | CA408648823 | AHCY,ASIP | c.349C>G (p.Arg117Gly) c.361C>G (p.Arg121Gly) c.*7+11910G>C (n.*7+11910G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269117C>T | CA313334698 | AHCY,ASIP | c.349C>T (p.Arg117Cys) c.361C>T (p.Arg121Cys) c.*7+11910G>A (n.*7+11910G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269118G>A | CA408648833 | AHCY,ASIP | c.350G>A (p.Arg117His) c.362G>A (p.Arg121His) c.*7+11909C>T (n.*7+11909C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269118G>C | CA408648830 | AHCY,ASIP | c.350G>C (p.Arg117Pro) c.362G>C (p.Arg121Pro) c.*7+11909C>G (n.*7+11909C>G) | |
20 | g.34269118G= | CA2361127746 | AHCY,ASIP | c.350G= (p.Arg117=) c.362G= (p.Arg121=) c.*7+11909C= (n.*7+11909C=) | |
20 | g.34269118G>T | CA313334702 | AHCY,ASIP | c.350G>T (p.Arg117Leu) c.362G>T (p.Arg121Leu) c.*7+11909C>A (n.*7+11909C>A) | dbSNP |
20 | g.34269119C>A | CA510271225 | AHCY,ASIP | c.351C>A (p.Arg117=) c.363C>A (p.Arg121=) c.*7+11908G>T (n.*7+11908G>T) | |
20 | g.34269119C= | CA2361127747 | AHCY,ASIP | c.351C= (p.Arg117=) c.363C= (p.Arg121=) c.*7+11908G= (n.*7+11908G=) | |
20 | g.34269119C>G | CA510271227 | AHCY,ASIP | c.351C>G (p.Arg117=) c.363C>G (p.Arg121=) c.*7+11908G>C (n.*7+11908G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269119C>T | CA510271226 | AHCY,ASIP | c.351C>T (p.Arg117=) c.363C>T (p.Arg121=) c.*7+11908G>A (n.*7+11908G>A) | gnomAD v4 |
20 | g.34269120T>A | CA408648836 | AHCY,ASIP | c.352T>A (p.Phe118Ile) c.364T>A (p.Phe122Ile) c.*7+11907A>T (n.*7+11907A>T) | |
20 | g.34269120T>C | CA408648840 | AHCY,ASIP | c.352T>C (p.Phe118Leu) c.364T>C (p.Phe122Leu) c.*7+11907A>G (n.*7+11907A>G) | |
20 | g.34269120T>G | CA408648844 | AHCY,ASIP | c.352T>G (p.Phe118Val) c.364T>G (p.Phe122Val) c.*7+11907A>C (n.*7+11907A>C) | |
20 | g.34269121T>A | CA9820709 | AHCY,ASIP | c.353T>A (p.Phe118Tyr) c.365T>A (p.Phe122Tyr) c.*7+11906A>T (n.*7+11906A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.34269121T>C | CA408648850 | AHCY,ASIP | c.353T>C (p.Phe118Ser) c.365T>C (p.Phe122Ser) c.*7+11906A>G (n.*7+11906A>G) | |
20 | g.34269121T>G | CA408648853 | AHCY,ASIP | c.353T>G (p.Phe118Cys) c.365T>G (p.Phe122Cys) c.*7+11906A>C (n.*7+11906A>C) | |
20 | g.34269121T= | CA2361127748 | AHCY,ASIP | c.353T= (p.Phe118=) c.365T= (p.Phe122=) c.*7+11906A= (n.*7+11906A=) | |
20 | g.34269122C>A | CA313334711 | AHCY,ASIP | c.354C>A (p.Phe118Leu) c.366C>A (p.Phe122Leu) c.*7+11905G>T (n.*7+11905G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269122C= | CA2361127749 | AHCY,ASIP | c.354C= (p.Phe118=) c.366C= (p.Phe122=) c.*7+11905G= (n.*7+11905G=) | |
20 | g.34269122C>G | CA408648856 | AHCY,ASIP | c.354C>G (p.Phe118Leu) c.366C>G (p.Phe122Leu) c.*7+11905G>C (n.*7+11905G>C) | |
20 | g.34269122C>T | CA510271228 | AHCY,ASIP | c.354C>T (p.Phe118=) c.366C>T (p.Phe122=) c.*7+11905G>A (n.*7+11905G>A) | gnomAD v4 |
20 | g.34269123T>A | CA408648859 | AHCY,ASIP | c.355T>A (p.Phe119Ile) c.367T>A (p.Phe123Ile) c.*7+11904A>T (n.*7+11904A>T) | |
20 | g.34269123T>C | CA408648861 | AHCY,ASIP | c.355T>C (p.Phe119Leu) c.367T>C (p.Phe123Leu) c.*7+11904A>G (n.*7+11904A>G) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269123T>G | CA408648865 | AHCY,ASIP | c.355T>G (p.Phe119Val) c.367T>G (p.Phe123Val) c.*7+11904A>C (n.*7+11904A>C) | |
20 | g.34269123T= | CA2361127750 | AHCY,ASIP | c.355T= (p.Phe119=) c.367T= (p.Phe123=) c.*7+11904A= (n.*7+11904A=) | |
20 | g.34269124T>A | CA408648867 | AHCY,ASIP | c.356T>A (p.Phe119Tyr) c.368T>A (p.Phe123Tyr) c.*7+11903A>T (n.*7+11903A>T) | |
20 | g.34269124T>C | CA408648871 | AHCY,ASIP | c.356T>C (p.Phe119Ser) c.368T>C (p.Phe123Ser) c.*7+11903A>G (n.*7+11903A>G) | gnomAD v4 |
20 | g.34269124T>G | CA408648878 | AHCY,ASIP | c.356T>G (p.Phe119Cys) c.368T>G (p.Phe123Cys) c.*7+11903A>C (n.*7+11903A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269124T= | CA2361127751 | AHCY,ASIP | c.356T= (p.Phe119=) c.368T= (p.Phe123=) c.*7+11903A= (n.*7+11903A=) | |
20 | g.34269125C>A | CA408648886 | AHCY,ASIP | c.357C>A (p.Phe119Leu) c.369C>A (p.Phe123Leu) c.*7+11902G>T (n.*7+11902G>T) | gnomAD v4 |
20 | g.34269125C= | CA2361127753 | AHCY,ASIP | c.357C= (p.Phe119=) c.369C= (p.Phe123=) c.*7+11902G= (n.*7+11902G=) | |
20 | g.34269125C>G | CA408648890 | AHCY,ASIP | c.357C>G (p.Phe119Leu) c.369C>G (p.Phe123Leu) c.*7+11902G>C (n.*7+11902G>C) | |
20 | g.34269125C>T | CA9820710 | AHCY,ASIP | c.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 |
20 | g.34269129_34269146dup | CA2361127752 | AHCY,ASIP | c.361_378dup (p.Arg126_Val127insSerAlaCysSerCysArg) c.373_390dup (p.Arg130_Val131insSerAlaCysSerCysArg) c.*7+11885_*7+11902dup (n.*7+11885_*7+11902dup) | dbSNP gnomAD v4 |
20 | g.34269126C>A | CA408648894 | AHCY,ASIP | c.358C>A (p.Arg120Ser) c.370C>A (p.Arg124Ser) c.*7+11901G>T (n.*7+11901G>T) | gnomAD v4 |
20 | g.34269126C>G | CA408648902 | AHCY,ASIP | c.358C>G (p.Arg120Gly) c.370C>G (p.Arg124Gly) c.*7+11901G>C (n.*7+11901G>C) | |
20 | g.34269126C>T | CA408648898 | AHCY,ASIP | c.358C>T (p.Arg120Cys) c.370C>T (p.Arg124Cys) c.*7+11901G>A (n.*7+11901G>A) | |
20 | g.34269127G>A | CA408648907 | AHCY,ASIP | c.359G>A (p.Arg120His) c.371G>A (p.Arg124His) c.*7+11900C>T (n.*7+11900C>T) | gnomAD v4 |
20 | g.34269127G>C | CA408648913 | AHCY,ASIP | c.359G>C (p.Arg120Pro) c.371G>C (p.Arg124Pro) c.*7+11900C>G (n.*7+11900C>G) | |
20 | g.34269127G>T | CA408648910 | AHCY,ASIP | c.359G>T (p.Arg120Leu) c.371G>T (p.Arg124Leu) c.*7+11900C>A (n.*7+11900C>A) | gnomAD v4 |
20 | g.34269128C>A | CA510271229 | AHCY,ASIP | c.360C>A (p.Arg120=) c.372C>A (p.Arg124=) c.*7+11899G>T (n.*7+11899G>T) | gnomAD v4 |
20 | g.34269128C>G | CA510271230 | AHCY,ASIP | c.360C>G (p.Arg120=) c.372C>G (p.Arg124=) c.*7+11899G>C (n.*7+11899G>C) | |
20 | g.34269128C>T | CA510271231 | AHCY,ASIP | c.360C>T (p.Arg120=) c.372C>T (p.Arg124=) c.*7+11899G>A (n.*7+11899G>A) | |
20 | g.34269129A>C | CA408648915 | AHCY,ASIP | c.361A>C (p.Ser121Arg) c.373A>C (p.Ser125Arg) c.*7+11898T>G (n.*7+11898T>G) | |
20 | g.34269129A>G | CA408648920 | AHCY,ASIP | c.361A>G (p.Ser121Gly) c.373A>G (p.Ser125Gly) c.*7+11898T>C (n.*7+11898T>C) | gnomAD v4 |
20 | g.34269129A>T | CA408648923 | AHCY,ASIP | c.361A>T (p.Ser121Cys) c.373A>T (p.Ser125Cys) c.*7+11898T>A (n.*7+11898T>A) | |
20 | g.34269130G>A | CA408648925 | AHCY,ASIP | c.362G>A (p.Ser121Asn) c.374G>A (p.Ser125Asn) c.*7+11897C>T (n.*7+11897C>T) | |
20 | g.34269130G>C | CA408648930 | AHCY,ASIP | c.362G>C (p.Ser121Thr) c.374G>C (p.Ser125Thr) c.*7+11897C>G (n.*7+11897C>G) | |
20 | g.34269130G= | CA2361127754 | AHCY,ASIP | c.362G= (p.Ser121=) c.374G= (p.Ser125=) c.*7+11897C= (n.*7+11897C=) | |
20 | g.34269130G>T | CA408648934 | AHCY,ASIP | c.362G>T (p.Ser121Ile) c.374G>T (p.Ser125Ile) c.*7+11897C>A (n.*7+11897C>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269131C>A | CA408648939 | AHCY,ASIP | c.363C>A (p.Ser121Arg) c.375C>A (p.Ser125Arg) c.*7+11896G>T (n.*7+11896G>T) | gnomAD v4 |
20 | g.34269131C>G | CA408648942 | AHCY,ASIP | c.363C>G (p.Ser121Arg) c.375C>G (p.Ser125Arg) c.*7+11896G>C (n.*7+11896G>C) | gnomAD v4 |
20 | g.34269131C>T | CA510271232 | AHCY,ASIP | c.363C>T (p.Ser121=) c.375C>T (p.Ser125=) c.*7+11896G>A (n.*7+11896G>A) | gnomAD v4 |
20 | g.34269132G>A | CA408648946 | AHCY,ASIP | c.364G>A (p.Ala122Thr) c.376G>A (p.Ala126Thr) c.*7+11895C>T (n.*7+11895C>T) | gnomAD v4 |
20 | g.34269132G>C | CA408648948 | AHCY,ASIP | c.364G>C (p.Ala122Pro) c.376G>C (p.Ala126Pro) c.*7+11895C>G (n.*7+11895C>G) | |
20 | g.34269132G>T | CA408648951 | AHCY,ASIP | c.364G>T (p.Ala122Ser) c.376G>T (p.Ala126Ser) c.*7+11895C>A (n.*7+11895C>A) | |
20 | g.34269133C>A | CA408648958 | AHCY,ASIP | c.365C>A (p.Ala122Asp) c.377C>A (p.Ala126Asp) c.*7+11894G>T (n.*7+11894G>T) | |
20 | g.34269133C= | CA2361127755 | AHCY,ASIP | c.365C= (p.Ala122=) c.377C= (p.Ala126=) c.*7+11894G= (n.*7+11894G=) | |
20 | g.34269133C>G | CA408648954 | AHCY,ASIP | c.365C>G (p.Ala122Gly) c.377C>G (p.Ala126Gly) c.*7+11894G>C (n.*7+11894G>C) | |
20 | g.34269133C>T | CA408648952 | AHCY,ASIP | c.365C>T (p.Ala122Val) c.377C>T (p.Ala126Val) c.*7+11894G>A (n.*7+11894G>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269134C>A | CA510271233 | AHCY,ASIP | c.366C>A (p.Ala122=) c.378C>A (p.Ala126=) c.*7+11893G>T (n.*7+11893G>T) | |
20 | g.34269134C= | CA2361127756 | AHCY,ASIP | c.366C= (p.Ala122=) c.378C= (p.Ala126=) c.*7+11893G= (n.*7+11893G=) | |
20 | g.34269134C>G | CA510271234 | AHCY,ASIP | c.366C>G (p.Ala122=) c.378C>G (p.Ala126=) c.*7+11893G>C (n.*7+11893G>C) | |
20 | g.34269134C>T | CA510271235 | AHCY,ASIP | c.366C>T (p.Ala122=) c.378C>T (p.Ala126=) c.*7+11893G>A (n.*7+11893G>A) | dbSNP gnomAD v2 |
20 | g.34269135T>A | CA408648963 | AHCY,ASIP | c.367T>A (p.Cys123Ser) c.379T>A (p.Cys127Ser) c.*7+11892A>T (n.*7+11892A>T) | |
20 | g.34269135T>C | CA408648964 | AHCY,ASIP | c.367T>C (p.Cys123Arg) c.379T>C (p.Cys127Arg) c.*7+11892A>G (n.*7+11892A>G) | gnomAD v4 |
20 | g.34269135T>G | CA408648967 | AHCY,ASIP | c.367T>G (p.Cys123Gly) c.379T>G (p.Cys127Gly) c.*7+11892A>C (n.*7+11892A>C) | |
20 | g.34269136G>A | CA9820711 | AHCY,ASIP | c.368G>A (p.Cys123Tyr) c.380G>A (p.Cys127Tyr) c.*7+11891C>T (n.*7+11891C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.34269136G>C | CA408648973 | AHCY,ASIP | c.368G>C (p.Cys123Ser) c.380G>C (p.Cys127Ser) c.*7+11891C>G (n.*7+11891C>G) | |
20 | g.34269136G= | CA2361127757 | AHCY,ASIP | c.368G= (p.Cys123=) c.380G= (p.Cys127=) c.*7+11891C= (n.*7+11891C=) | |
20 | g.34269136G>T | CA408648976 | AHCY,ASIP | c.368G>T (p.Cys123Phe) c.380G>T (p.Cys127Phe) c.*7+11891C>A (n.*7+11891C>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269137C>A | CA408648984 | AHCY,ASIP | c.369C>A (p.Cys123Ter) c.381C>A (p.Cys127Ter) c.*7+11890G>T (n.*7+11890G>T) | gnomAD v4 |
20 | g.34269137C= | CA2361127758 | AHCY,ASIP | c.369C= (p.Cys123=) c.381C= (p.Cys127=) c.*7+11890G= (n.*7+11890G=) | |
20 | g.34269137C>G | CA408648987 | AHCY,ASIP | c.369C>G (p.Cys123Trp) c.381C>G (p.Cys127Trp) c.*7+11890G>C (n.*7+11890G>C) | |
20 | g.34269137C>T | CA510271236 | AHCY,ASIP | c.369C>T (p.Cys123=) c.381C>T (p.Cys127=) c.*7+11890G>A (n.*7+11890G>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269138T>A | CA408648990 | AHCY,ASIP | c.370T>A (p.Ser124Thr) c.382T>A (p.Ser128Thr) c.*7+11889A>T (n.*7+11889A>T) | gnomAD v4 |
20 | g.34269138T>C | CA408648993 | AHCY,ASIP | c.370T>C (p.Ser124Pro) c.382T>C (p.Ser128Pro) c.*7+11889A>G (n.*7+11889A>G) | gnomAD v4 |
20 | g.34269138T>G | CA408648995 | AHCY,ASIP | c.370T>G (p.Ser124Ala) c.382T>G (p.Ser128Ala) c.*7+11889A>C (n.*7+11889A>C) | |
20 | g.34269139C>A | CA408649005 | AHCY,ASIP | c.371C>A (p.Ser124Tyr) c.383C>A (p.Ser128Tyr) c.*7+11888G>T (n.*7+11888G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269139C= | CA2361127759 | AHCY,ASIP | c.371C= (p.Ser124=) c.383C= (p.Ser128=) c.*7+11888G= (n.*7+11888G=) | |
20 | g.34269139C>G | CA408649002 | AHCY,ASIP | c.371C>G (p.Ser124Cys) c.383C>G (p.Ser128Cys) c.*7+11888G>C (n.*7+11888G>C) | |
20 | g.34269139C>T | CA408649000 | AHCY,ASIP | c.371C>T (p.Ser124Phe) c.383C>T (p.Ser128Phe) c.*7+11888G>A (n.*7+11888G>A) | dbSNP gnomAD v4 |
20 | g.34269140C>A | CA510271237 | AHCY,ASIP | c.372C>A (p.Ser124=) c.384C>A (p.Ser128=) c.*7+11887G>T (n.*7+11887G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269140C= | CA2361127760 | AHCY,ASIP | c.372C= (p.Ser124=) c.384C= (p.Ser128=) c.*7+11887G= (n.*7+11887G=) | |
20 | g.34269140C>G | CA510271239 | AHCY,ASIP | c.372C>G (p.Ser124=) c.384C>G (p.Ser128=) c.*7+11887G>C (n.*7+11887G>C) | |
20 | g.34269140C>T | CA510271238 | AHCY,ASIP | c.372C>T (p.Ser124=) c.384C>T (p.Ser128=) c.*7+11887G>A (n.*7+11887G>A) | |
20 | g.34269141T>A | CA408649010 | AHCY,ASIP | c.373T>A (p.Cys125Ser) c.385T>A (p.Cys129Ser) c.*7+11886A>T (n.*7+11886A>T) | |
20 | g.34269141T>C | CA408649013 | AHCY,ASIP | c.373T>C (p.Cys125Arg) c.385T>C (p.Cys129Arg) c.*7+11886A>G (n.*7+11886A>G) | |
20 | g.34269141T>G | CA408649022 | AHCY,ASIP | c.373T>G (p.Cys125Gly) c.385T>G (p.Cys129Gly) c.*7+11886A>C (n.*7+11886A>C) | |
20 | g.34269142G>A | CA408649027 | AHCY,ASIP | c.374G>A (p.Cys125Tyr) c.386G>A (p.Cys129Tyr) c.*7+11885C>T (n.*7+11885C>T) | |
20 | g.34269142G>C | CA408649030 | AHCY,ASIP | c.374G>C (p.Cys125Ser) c.386G>C (p.Cys129Ser) c.*7+11885C>G (n.*7+11885C>G) | |
20 | g.34269142G>T | CA408649031 | AHCY,ASIP | c.374G>T (p.Cys125Phe) c.386G>T (p.Cys129Phe) c.*7+11885C>A (n.*7+11885C>A) | |
20 | g.34269142_34269154del | CA2652532344 | AHCY,ASIP | c.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 |
20 | g.34269143C>A | CA9820712 | AHCY,ASIP | c.375C>A (p.Cys125Ter) c.387C>A (p.Cys129Ter) c.*7+11884G>T (n.*7+11884G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.34269143C= | CA2361127761 | AHCY,ASIP | c.375C= (p.Cys125=) c.387C= (p.Cys129=) c.*7+11884G= (n.*7+11884G=) | |
20 | g.34269143C>G | CA408649034 | AHCY,ASIP | c.375C>G (p.Cys125Trp) c.387C>G (p.Cys129Trp) c.*7+11884G>C (n.*7+11884G>C) | |
20 | g.34269143C>T | CA510271240 | AHCY,ASIP | c.375C>T (p.Cys125=) c.387C>T (p.Cys129=) c.*7+11884G>A (n.*7+11884G>A) | gnomAD v4 |
20 | g.34269145_34269175del | CA2816205318 | AHCY,ASIP | c.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) | |
20 | g.34269144C>A | CA408649037 | AHCY,ASIP | c.376C>A (p.Arg126Ser) c.388C>A (p.Arg130Ser) c.*7+11883G>T (n.*7+11883G>T) | gnomAD v4 |
20 | g.34269144C= | CA2361127762 | AHCY,ASIP | c.376C= (p.Arg126=) c.388C= (p.Arg130=) c.*7+11883G= (n.*7+11883G=) | |
20 | g.34269144C>G | CA408649038 | AHCY,ASIP | c.376C>G (p.Arg126Gly) c.388C>G (p.Arg130Gly) c.*7+11883G>C (n.*7+11883G>C) | |
20 | g.34269144C>T | CA408649039 | AHCY,ASIP | c.376C>T (p.Arg126Cys) c.388C>T (p.Arg130Cys) c.*7+11883G>A (n.*7+11883G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269145G>A | CA408649042 | AHCY,ASIP | c.377G>A (p.Arg126His) c.389G>A (p.Arg130His) c.*7+11882C>T (n.*7+11882C>T) | gnomAD v4 |
20 | g.34269145G>C | CA408649041 | AHCY,ASIP | c.377G>C (p.Arg126Pro) c.389G>C (p.Arg130Pro) c.*7+11882C>G (n.*7+11882C>G) | |
20 | g.34269145G>T | CA408649040 | AHCY,ASIP | c.377G>T (p.Arg126Leu) c.389G>T (p.Arg130Leu) c.*7+11882C>A (n.*7+11882C>A) | gnomAD v4 |
20 | g.34269146C>A | CA510271242 | AHCY,ASIP | c.378C>A (p.Arg126=) c.390C>A (p.Arg130=) c.*7+11881G>T (n.*7+11881G>T) | gnomAD v4 |
20 | g.34269146C>G | CA510271245 | AHCY,ASIP | c.378C>G (p.Arg126=) c.390C>G (p.Arg130=) c.*7+11881G>C (n.*7+11881G>C) | |
20 | g.34269146C>T | CA510271244 | AHCY,ASIP | c.378C>T (p.Arg126=) c.390C>T (p.Arg130=) c.*7+11881G>A (n.*7+11881G>A) | |
20 | g.34269147G>A | CA408649043 | AHCY,ASIP | c.379G>A (p.Val127Met) c.391G>A (p.Val131Met) c.*7+11880C>T (n.*7+11880C>T) | gnomAD v4 |
20 | g.34269147G>C | CA408649044 | AHCY,ASIP | c.379G>C (p.Val127Leu) c.391G>C (p.Val131Leu) c.*7+11880C>G (n.*7+11880C>G) | dbSNP gnomAD v2 |
20 | g.34269147G= | CA2361127763 | AHCY,ASIP | c.379G= (p.Val127=) c.391G= (p.Val131=) c.*7+11880C= (n.*7+11880C=) | |
20 | g.34269147G>T | CA408649045 | AHCY,ASIP | c.379G>T (p.Val127Leu) c.391G>T (p.Val131Leu) c.*7+11880C>A (n.*7+11880C>A) | |
20 | g.34269148T>A | CA408649046 | AHCY,ASIP | c.380T>A (p.Val127Glu) c.392T>A (p.Val131Glu) c.*7+11879A>T (n.*7+11879A>T) | |
20 | g.34269148T>C | CA408649047 | AHCY,ASIP | c.380T>C (p.Val127Ala) c.392T>C (p.Val131Ala) c.*7+11879A>G (n.*7+11879A>G) | gnomAD v4 |
20 | g.34269148T>G | CA408649048 | AHCY,ASIP | c.380T>G (p.Val127Gly) c.392T>G (p.Val131Gly) c.*7+11879A>C (n.*7+11879A>C) | |
20 | g.34269149G>A | CA510271247 | AHCY,ASIP | c.381G>A (p.Val127=) c.393G>A (p.Val131=) c.*7+11878C>T (n.*7+11878C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269149G>C | CA510271248 | AHCY,ASIP | c.381G>C (p.Val127=) c.393G>C (p.Val131=) c.*7+11878C>G (n.*7+11878C>G) | |
20 | g.34269149G= | CA2361127764 | AHCY,ASIP | c.381G= (p.Val127=) c.393G= (p.Val131=) c.*7+11878C= (n.*7+11878C=) | |
20 | g.34269149G>T | CA510271250 | AHCY,ASIP | c.381G>T (p.Val127=) c.393G>T (p.Val131=) c.*7+11878C>A (n.*7+11878C>A) | gnomAD v4 |
20 | g.34269150C>A | CA9820713 | AHCY,ASIP | c.382C>A (p.Leu128Ile) c.394C>A (p.Leu132Ile) c.*7+11877G>T (n.*7+11877G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.34269150C= | CA2361127765 | AHCY,ASIP | c.382C= (p.Leu128=) c.394C= (p.Leu132=) c.*7+11877G= (n.*7+11877G=) | |
20 | g.34269150C>G | CA408649049 | AHCY,ASIP | c.382C>G (p.Leu128Val) c.394C>G (p.Leu132Val) c.*7+11877G>C (n.*7+11877G>C) | |
20 | g.34269150C>T | CA408649050 | AHCY,ASIP | c.382C>T (p.Leu128Phe) c.394C>T (p.Leu132Phe) c.*7+11877G>A (n.*7+11877G>A) | |
20 | g.34269151T>A | CA408649051 | AHCY,ASIP | c.383T>A (p.Leu128His) c.395T>A (p.Leu132His) c.*7+11876A>T (n.*7+11876A>T) | gnomAD v4 |
20 | g.34269151T>C | CA408649052 | AHCY,ASIP | c.383T>C (p.Leu128Pro) c.395T>C (p.Leu132Pro) c.*7+11876A>G (n.*7+11876A>G) | |
20 | g.34269151T>G | CA408649053 | AHCY,ASIP | c.383T>G (p.Leu128Arg) c.395T>G (p.Leu132Arg) c.*7+11876A>C (n.*7+11876A>C) | |
20 | g.34269152C>A | CA510271253 | AHCY,ASIP | c.384C>A (p.Leu128=) c.396C>A (p.Leu132=) c.*7+11875G>T (n.*7+11875G>T) | gnomAD v4 |
20 | g.34269152C= | CA2361127766 | AHCY,ASIP | c.384C= (p.Leu128=) c.396C= (p.Leu132=) c.*7+11875G= (n.*7+11875G=) | |
20 | g.34269152C>G | CA510271254 | AHCY,ASIP | c.384C>G (p.Leu128=) c.396C>G (p.Leu132=) c.*7+11875G>C (n.*7+11875G>C) | gnomAD v4 |
20 | g.34269152C>T | CA510271255 | AHCY,ASIP | c.384C>T (p.Leu128=) c.396C>T (p.Leu132=) c.*7+11875G>A (n.*7+11875G>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269153A>C | CA408649060 | AHCY,ASIP | c.385A>C (p.Ser129Arg) c.397A>C (p.Ser133Arg) c.*7+11874T>G (n.*7+11874T>G) | |
20 | g.34269153A>G | CA408649058 | AHCY,ASIP | c.385A>G (p.Ser129Gly) c.397A>G (p.Ser133Gly) c.*7+11874T>C (n.*7+11874T>C) | |
20 | g.34269153A>T | CA408649056 | AHCY,ASIP | c.385A>T (p.Ser129Cys) c.397A>T (p.Ser133Cys) c.*7+11874T>A (n.*7+11874T>A) | |
20 | g.34269156_34269191del | CA2652532345 | AHCY,ASIP | c.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 |
20 | g.34269154G>A | CA408649062 | AHCY,ASIP | c.386G>A (p.Ser129Asn) c.398G>A (p.Ser133Asn) c.*7+11873C>T (n.*7+11873C>T) | gnomAD v4 |
20 | g.34269154G>C | CA408649065 | AHCY,ASIP | c.386G>C (p.Ser129Thr) c.398G>C (p.Ser133Thr) c.*7+11873C>G (n.*7+11873C>G) | gnomAD v4 |
20 | g.34269154G>T | CA408649064 | AHCY,ASIP | c.386G>T (p.Ser129Ile) c.398G>T (p.Ser133Ile) c.*7+11873C>A (n.*7+11873C>A) | gnomAD v4 |
20 | g.34269155C>A | CA408649067 | AHCY,ASIP | c.387C>A (p.Ser129Arg) c.399C>A (p.Ser133Arg) c.*7+11872G>T (n.*7+11872G>T) | gnomAD v4 |
20 | g.34269155C= | CA2361127767 | AHCY,ASIP | c.387C= (p.Ser129=) c.399C= (p.Ser133=) c.*7+11872G= (n.*7+11872G=) | |
20 | g.34269155C>G | CA408649069 | AHCY,ASIP | c.387C>G (p.Ser129Arg) c.399C>G (p.Ser133Arg) c.*7+11872G>C (n.*7+11872G>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
20 | g.34269155C>T | CA510271257 | AHCY,ASIP | c.387C>T (p.Ser129=) c.399C>T (p.Ser133=) c.*7+11872G>A (n.*7+11872G>A) | |
20 | g.34269156C>A | CA408649072 | AHCY,ASIP | c.388C>A (p.Leu130Ile) c.400C>A (p.Leu134Ile) c.*7+11871G>T (n.*7+11871G>T) | gnomAD v4 |
20 | g.34269156C= | CA2361127768 | AHCY,ASIP | c.388C= (p.Leu130=) c.400C= (p.Leu134=) c.*7+11871G= (n.*7+11871G=) | |
20 | g.34269156C>G | CA408649074 | AHCY,ASIP | c.388C>G (p.Leu130Val) c.400C>G (p.Leu134Val) c.*7+11871G>C (n.*7+11871G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269156C>T | CA408649075 | AHCY,ASIP | c.388C>T (p.Leu130Phe) c.400C>T (p.Leu134Phe) c.*7+11871G>A (n.*7+11871G>A) | gnomAD v4 |
20 | g.34269157T>A | CA408649077 | AHCY,ASIP | c.389T>A (p.Leu130His) c.401T>A (p.Leu134His) c.*7+11870A>T (n.*7+11870A>T) | dbSNP |
20 | g.34269157T>C | CA408649078 | AHCY,ASIP | c.389T>C (p.Leu130Pro) c.401T>C (p.Leu134Pro) c.*7+11870A>G (n.*7+11870A>G) | |
20 | g.34269157T>G | CA408649080 | AHCY,ASIP | c.389T>G (p.Leu130Arg) c.401T>G (p.Leu134Arg) c.*7+11870A>C (n.*7+11870A>C) | |
20 | g.34269157T= | CA2361127769 | AHCY,ASIP | c.389T= (p.Leu130=) c.401T= (p.Leu134=) c.*7+11870A= (n.*7+11870A=) | |
20 | g.34269158C>A | CA510271259 | AHCY,ASIP | c.390C>A (p.Leu130=) c.402C>A (p.Leu134=) c.*7+11869G>T (n.*7+11869G>T) | gnomAD v4 |
20 | g.34269158C= | CA2361127770 | AHCY,ASIP | c.390C= (p.Leu130=) c.402C= (p.Leu134=) c.*7+11869G= (n.*7+11869G=) | |
20 | g.34269158C>G | CA510271260 | AHCY,ASIP | c.390C>G (p.Leu130=) c.402C>G (p.Leu134=) c.*7+11869G>C (n.*7+11869G>C) | |
20 | g.34269158C>T | CA510271261 | AHCY,ASIP | c.390C>T (p.Leu130=) c.402C>T (p.Leu134=) c.*7+11869G>A (n.*7+11869G>A) | dbSNP gnomAD v4 |
20 | g.34269159A= | CA2361127771 | AHCY,ASIP | c.391A= (p.Asn131=) c.403A= (p.Asn135=) c.*7+11868T= (n.*7+11868T=) | |
20 | g.34269159A>C | CA9820714 | AHCY,ASIP | c.391A>C (p.Asn131His) c.403A>C (p.Asn135His) c.*7+11868T>G (n.*7+11868T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.34269159A>G | CA408649083 | AHCY,ASIP | c.391A>G (p.Asn131Asp) c.403A>G (p.Asn135Asp) c.*7+11868T>C (n.*7+11868T>C) | gnomAD v4 |
20 | g.34269159A>T | CA408649084 | AHCY,ASIP | c.391A>T (p.Asn131Tyr) c.403A>T (p.Asn135Tyr) c.*7+11868T>A (n.*7+11868T>A) | |
20 | g.34269160A>C | CA408649091 | AHCY,ASIP | c.392A>C (p.Asn131Thr) c.404A>C (p.Asn135Thr) c.*7+11867T>G (n.*7+11867T>G) | |
20 | g.34269160A>G | CA408649089 | AHCY,ASIP | c.392A>G (p.Asn131Ser) c.404A>G (p.Asn135Ser) c.*7+11867T>C (n.*7+11867T>C) | |
20 | g.34269160A>T | CA408649087 | AHCY,ASIP | c.392A>T (p.Asn131Ile) c.404A>T (p.Asn135Ile) c.*7+11867T>A (n.*7+11867T>A) | |
20 | g.34269161C>A | CA408649093 | AHCY,ASIP | c.393C>A (p.Asn131Lys) c.405C>A (p.Asn135Lys) c.*7+11866G>T (n.*7+11866G>T) | |
20 | g.34269161C>G | CA408649096 | AHCY,ASIP | c.393C>G (p.Asn131Lys) c.405C>G (p.Asn135Lys) c.*7+11866G>C (n.*7+11866G>C) | |
20 | g.34269161C>T | CA510271265 | AHCY,ASIP | c.393C>T (p.Asn131=) c.405C>T (p.Asn135=) c.*7+11866G>A (n.*7+11866G>A) | |
20 | g.34269162T>A | CA408649098 | AHCY,ASIP | c.394T>A (p.Cys132Ser) c.406T>A (p.Cys136Ser) c.*7+11865A>T (n.*7+11865A>T) | |
20 | g.34269162T>C | CA408649100 | AHCY,ASIP | c.394T>C (p.Cys132Arg) c.406T>C (p.Cys136Arg) c.*7+11865A>G (n.*7+11865A>G) | |
20 | g.34269162T>G | CA408649102 | AHCY,ASIP | c.394T>G (p.Cys132Gly) c.406T>G (p.Cys136Gly) c.*7+11865A>C (n.*7+11865A>C) | |
20 | g.34269163G>A | CA408649105 | AHCY,ASIP | c.395G>A (p.Cys132Tyr) c.407G>A (p.Cys136Tyr) c.*7+11864C>T (n.*7+11864C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.34269163G>C | CA408649107 | AHCY,ASIP | c.395G>C (p.Cys132Ser) c.407G>C (p.Cys136Ser) c.*7+11864C>G (n.*7+11864C>G) | |
20 | g.34269163G= | CA2361127772 | AHCY,ASIP | c.395G= (p.Cys132=) c.407G= (p.Cys136=) c.*7+11864C= (n.*7+11864C=) | |
20 | g.34269163G>T | CA408649109 | AHCY,ASIP | c.395G>T (p.Cys132Phe) c.407G>T (p.Cys136Phe) c.*7+11864C>A (n.*7+11864C>A) | gnomAD v4 |
20 | g.34269163dup | CA2838904647 | AHCY,ASIP | c.395dup (p.Cys132TrpfsTer?) c.407dup (p.Cys136TrpfsTer?) c.*7+11864dup (n.*7+11864dup) | |
20 | g.34269164C>A | CA408649112 | AHCY,ASIP | c.396C>A (p.Cys132Ter) c.408C>A (p.Cys136Ter) c.*7+11863G>T (n.*7+11863G>T) | |
20 | g.34269164C>G | CA408649113 | AHCY,ASIP | c.396C>G (p.Cys132Trp) c.408C>G (p.Cys136Trp) c.*7+11863G>C (n.*7+11863G>C) | dbSNP |
20 | g.34269164C>T | CA510271267 | AHCY,ASIP | c.396C>T (p.Cys132=) c.408C>T (p.Cys136=) c.*7+11863G>A (n.*7+11863G>A) | gnomAD v4 |
20 | g.34269165T>A | CA408649116 | AHCY,ASIP | c.397T>A (p.Ter133Arg) c.409T>A (p.Ter137Arg) c.*7+11862A>T (n.*7+11862A>T) | |
20 | g.34269165T>C | CA408649117 | AHCY,ASIP | c.397T>C (p.Ter133Arg) c.409T>C (p.Ter137Arg) c.*7+11862A>G (n.*7+11862A>G) | gnomAD v4 |
20 | g.34269165T>G | CA408649119 | AHCY,ASIP | c.397T>G (p.Ter133Gly) c.409T>G (p.Ter137Gly) c.*7+11862A>C (n.*7+11862A>C) | |
20 | g.34269165dup | CA2652532346 | AHCY,ASIP | c.397dup (p.Ter133LeuextTer?) c.409dup (p.Ter137LeuextTer?) c.*7+11862dup (n.*7+11862dup) | gnomAD v4 |
20 | g.34269166G>A | CA313334720 | AHCY,ASIP | c.398G>A (p.Ter133=) c.410G>A (p.Ter137=) c.*7+11861C>T (n.*7+11861C>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269166G>C | CA408649122 | AHCY,ASIP | c.398G>C (p.Ter133Ser) c.410G>C (p.Ter137Ser) c.*7+11861C>G (n.*7+11861C>G) | |
20 | g.34269166G= | CA2361127773 | AHCY,ASIP | c.398G= (p.Ter133=) c.410G= (p.Ter137=) c.*7+11861C= (n.*7+11861C=) | |
20 | g.34269166G>T | CA408649123 | AHCY,ASIP | c.398G>T (p.Ter133Leu) c.410G>T (p.Ter137Leu) c.*7+11861C>A (n.*7+11861C>A) | |
20 | g.34269167A= | CA2361127774 | AHCY,ASIP | c.399A= (p.Ter133=) c.411A= (p.Ter137=) c.*7+11860T= (n.*7+11860T=) | |
20 | g.34269167A>C | CA408649126 | AHCY,ASIP | c.399A>C (p.Ter133Cys) c.411A>C (p.Ter137Cys) c.*7+11860T>G (n.*7+11860T>G) | |
20 | g.34269167A>G | CA408649127 | AHCY,ASIP | c.399A>G (p.Ter133Trp) c.411A>G (p.Ter137Trp) c.*7+11860T>C (n.*7+11860T>C) | gnomAD v4 |
20 | g.34269167A>T | CA313334736 | AHCY,ASIP | c.399A>T (p.Ter133Cys) c.411A>T (p.Ter137Cys) c.*7+11860T>A (n.*7+11860T>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269168G>A | CA2652532347 | AHCY,ASIP | c.*1G>A (n.*1G>A) c.*7+11859C>T (n.*7+11859C>T) | gnomAD v4 |
20 | g.34269169C>A | CA2652532348 | AHCY,ASIP | c.*2C>A (n.*2C>A) c.*7+11858G>T (n.*7+11858G>T) | gnomAD v4 |
20 | g.34269169C>G | CA2577375041 | AHCY,ASIP | c.*2C>G (n.*2C>G) c.*7+11858G>C (n.*7+11858G>C) | |
20 | g.34269169C>T | CA2652532349 | AHCY,ASIP | c.*2C>T (n.*2C>T) c.*7+11858G>A (n.*7+11858G>A) | gnomAD v4 |
20 | g.34269170G>A | CA1017103663 | AHCY,ASIP | c.*3G>A (n.*3G>A) c.*7+11857C>T (n.*7+11857C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269170G= | CA2361127775 | AHCY,ASIP | c.*3G= (n.*3G=) c.*7+11857C= (n.*7+11857C=) | |
20 | g.34269170G>T | CA2652532350 | AHCY,ASIP | c.*3G>T (n.*3G>T) c.*7+11857C>A (n.*7+11857C>A) | gnomAD v4 |
20 | g.34269171C>A | CA2652532353 | AHCY,ASIP | c.*4C>A (n.*4C>A) c.*7+11856G>T (n.*7+11856G>T) | gnomAD v4 |
20 | g.34269171C= | CA2361127776 | AHCY,ASIP | c.*4C= (n.*4C=) c.*7+11856G= (n.*7+11856G=) | |
20 | g.34269171C>T | CA1017103665 | AHCY,ASIP | c.*4C>T (n.*4C>T) c.*7+11856G>A (n.*7+11856G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269175dup | CA2816205322 | AHCY,ASIP | c.*8dup (n.*8dup) c.*7+11856dup (n.*7+11856dup) | |
20 | g.34269174_34269175dup | CA2652532352 | AHCY,ASIP | c.*7_*8dup (n.*7_*8dup) c.*7+11855_*7+11856dup (n.*7+11855_*7+11856dup) | gnomAD v4 |
20 | g.34269175del | CA2652532351 | AHCY,ASIP | c.*8del (n.*8del) c.*7+11856del (n.*7+11856del) | gnomAD v4 |
20 | g.34269172C>A | CA2652532354 | AHCY,ASIP | c.*5C>A (n.*5C>A) c.*7+11855G>T (n.*7+11855G>T) | gnomAD v4 |
20 | g.34269172C>T | CA2652532355 | AHCY,ASIP | c.*5C>T (n.*5C>T) c.*7+11855G>A (n.*7+11855G>A) | gnomAD v4 |
20 | g.34269173C>A | CA2652532356 | AHCY,ASIP | c.*6C>A (n.*6C>A) c.*7+11854G>T (n.*7+11854G>T) | gnomAD v4 |
20 | g.34269173C>T | CA2652532357 | AHCY,ASIP | c.*6C>T (n.*6C>T) c.*7+11854G>A (n.*7+11854G>A) | gnomAD v4 |
20 | g.34269174C>A | CA2577375042 | AHCY,ASIP | c.*7C>A (n.*7C>A) c.*7+11853G>T (n.*7+11853G>T) | gnomAD v4 |
20 | g.34269174C= | CA2361127777 | AHCY,ASIP | c.*7C= (n.*7C=) c.*7+11853G= (n.*7+11853G=) | |
20 | g.34269174C>G | CA1017103667 | AHCY,ASIP | c.*7C>G (n.*7C>G) c.*7+11853G>C (n.*7+11853G>C) | dbSNP gnomAD v4 |
20 | g.34269174C>T | CA635720203 | AHCY,ASIP | c.*7C>T (n.*7C>T) c.*7+11853G>A (n.*7+11853G>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269175C>A | CA743840789 | AHCY,ASIP | c.*8C>A (n.*8C>A) c.*7+11852G>T (n.*7+11852G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269175C= | CA2361127778 | AHCY,ASIP | c.*8C= (n.*8C=) c.*7+11852G= (n.*7+11852G=) | |
20 | g.34269175C>G | CA313334744 | AHCY,ASIP | c.*8C>G (n.*8C>G) c.*7+11852G>C (n.*7+11852G>C) | dbSNP gnomAD v4 |
20 | g.34269175C>T | CA2736427912 | AHCY,ASIP | c.*8C>T (n.*8C>T) c.*7+11852G>A (n.*7+11852G>A) | dbSNP |
20 | g.34269176A= | CA2361127779 | AHCY,ASIP | c.*9A= (n.*9A=) c.*7+11851T= (n.*7+11851T=) | |
20 | g.34269176A>C | CA2652532358 | AHCY,ASIP | c.*9A>C (n.*9A>C) c.*7+11851T>G (n.*7+11851T>G) | gnomAD v4 |
20 | g.34269176A>G | CA635720206 | AHCY,ASIP | c.*9A>G (n.*9A>G) c.*7+11851T>C (n.*7+11851T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269176A>T | CA743840800 | AHCY,ASIP | c.*9A>T (n.*9A>T) c.*7+11851T>A (n.*7+11851T>A) | dbSNP gnomAD v4 |
20 | g.34269177C>T | CA2652532359 | AHCY,ASIP | c.*10C>T (n.*10C>T) c.*7+11850G>A (n.*7+11850G>A) | gnomAD v4 |
20 | g.34269178T>G | CA2652532360 | AHCY,ASIP | c.*11T>G (n.*11T>G) c.*7+11849A>C (n.*7+11849A>C) | gnomAD v4 |
20 | g.34269179C>A | CA1017103673 | AHCY,ASIP | c.*12C>A (n.*12C>A) c.*7+11848G>T (n.*7+11848G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269179C= | CA2361127780 | AHCY,ASIP | c.*12C= (n.*12C=) c.*7+11848G= (n.*7+11848G=) | |
20 | g.34269179C>T | CA2652532361 | AHCY,ASIP | c.*12C>T (n.*12C>T) c.*7+11848G>A (n.*7+11848G>A) | gnomAD v4 |
20 | g.34269180C>A | CA313334749 | AHCY,ASIP | c.*13C>A (n.*13C>A) c.*7+11847G>T (n.*7+11847G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269180C= | CA2361127781 | AHCY,ASIP | c.*13C= (n.*13C=) c.*7+11847G= (n.*7+11847G=) | |
20 | g.34269180C>T | CA2652532362 | AHCY,ASIP | c.*13C>T (n.*13C>T) c.*7+11847G>A (n.*7+11847G>A) | gnomAD v4 |
20 | g.34269181C>A | CA2652532363 | AHCY,ASIP | c.*14C>A (n.*14C>A) c.*7+11846G>T (n.*7+11846G>T) | gnomAD v4 |
20 | g.34269181C= | CA2361127782 | AHCY,ASIP | c.*14C= (n.*14C=) c.*7+11846G= (n.*7+11846G=) | |
20 | g.34269181C>G | CA1017103680 | AHCY,ASIP | c.*14C>G (n.*14C>G) c.*7+11846G>C (n.*7+11846G>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269181C>T | CA2577375043 | AHCY,ASIP | c.*14C>T (n.*14C>T) c.*7+11846G>A (n.*7+11846G>A) | |
20 | g.34269181_34269182insTGCCTGCTCGC | CA2842741623 | AHCY,ASIP | c.*14_*15insTGCCTGCTCGC (n.*14_*15insTGCCTGCTCGC) c.*7+11846_*7+11847insCGAGCAGGCAG (n.*7+11846_*7+11847insCGAGCAGGCAG) | |
20 | g.34269182G>A | CA2577375044 | AHCY,ASIP | c.*15G>A (n.*15G>A) c.*7+11845C>T (n.*7+11845C>T) | gnomAD v4 |
20 | g.34269182G>C | CA635720208 | AHCY,ASIP | c.*15G>C (n.*15G>C) c.*7+11845C>G (n.*7+11845C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269182G= | CA2361127784 | AHCY,ASIP | c.*15G= (n.*15G=) c.*7+11845C= (n.*7+11845C=) | |
20 | g.34269183dup | CA2361127783 | AHCY,ASIP | c.*16dup (n.*16dup) c.*7+11845dup (n.*7+11845dup) | dbSNP |
20 | g.34269183G>A | CA2652532364 | AHCY,ASIP | c.*16G>A (n.*16G>A) c.*7+11844C>T (n.*7+11844C>T) | gnomAD v4 |
20 | g.34269183G>T | CA2652532365 | AHCY,ASIP | c.*16G>T (n.*16G>T) c.*7+11844C>A (n.*7+11844C>A) | gnomAD v4 |
20 | g.34269184C>A | CA2652532366 | AHCY,ASIP | c.*17C>A (n.*17C>A) c.*7+11843G>T (n.*7+11843G>T) | gnomAD v4 |
20 | g.34269185C>A | CA2652532367 | AHCY,ASIP | c.*18C>A (n.*18C>A) c.*7+11842G>T (n.*7+11842G>T) | gnomAD v4 |
20 | g.34269186G>A | CA2652532368 | AHCY,ASIP | c.*19G>A (n.*19G>A) c.*7+11841C>T (n.*7+11841C>T) | gnomAD v4 |
20 | g.34269186G= | CA2361127785 | AHCY,ASIP | c.*19G= (n.*19G=) c.*7+11841C= (n.*7+11841C=) | |
20 | g.34269186G>T | CA9820715 | AHCY,ASIP | c.*19G>T (n.*19G>T) c.*7+11841C>A (n.*7+11841C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269187C>A | CA2652532369 | AHCY,ASIP | c.*20C>A (n.*20C>A) c.*7+11840G>T (n.*7+11840G>T) | gnomAD v4 |
20 | g.34269187C>G | CA2652532370 | AHCY,ASIP | c.*20C>G (n.*20C>G) c.*7+11840G>C (n.*7+11840G>C) | gnomAD v4 |
20 | g.34269187C>T | CA2652532371 | AHCY,ASIP | c.*20C>T (n.*20C>T) c.*7+11840G>A (n.*7+11840G>A) | gnomAD v4 |
20 | g.34269188G>A | CA635720210 | AHCY,ASIP | c.*21G>A (n.*21G>A) c.*7+11839C>T (n.*7+11839C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269188G= | CA2361127786 | AHCY,ASIP | c.*21G= (n.*21G=) c.*7+11839C= (n.*7+11839C=) | |
20 | g.34269188G>T | CA2652532373 | AHCY,ASIP | c.*21G>T (n.*21G>T) c.*7+11839C>A (n.*7+11839C>A) | gnomAD v4 |
20 | g.34269188dup | CA2652532372 | AHCY,ASIP | c.*21dup (n.*21dup) c.*7+11839dup (n.*7+11839dup) | gnomAD v4 |
20 | g.34269189A>C | CA2652532374 | AHCY,ASIP | c.*22A>C (n.*22A>C) c.*7+11838T>G (n.*7+11838T>G) | gnomAD v4 |
20 | g.34269189A>G | CA2652532375 | AHCY,ASIP | c.*22A>G (n.*22A>G) c.*7+11838T>C (n.*7+11838T>C) | gnomAD v4 |
20 | g.34269190G>A | CA2652532376 | AHCY,ASIP | c.*23G>A (n.*23G>A) c.*7+11837C>T (n.*7+11837C>T) | gnomAD v4 |
20 | g.34269190G= | CA2361127787 | AHCY,ASIP | c.*23G= (n.*23G=) c.*7+11837C= (n.*7+11837C=) | |
20 | g.34269190G>T | CA635720213 | AHCY,ASIP | c.*23G>T (n.*23G>T) c.*7+11837C>A (n.*7+11837C>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269191C>A | CA2652532377 | AHCY,ASIP | c.*24C>A (n.*24C>A) c.*7+11836G>T (n.*7+11836G>T) | gnomAD v4 |
20 | g.34269191C= | CA2361127788 | AHCY,ASIP | c.*24C= (n.*24C=) c.*7+11836G= (n.*7+11836G=) | |
20 | g.34269191C>G | CA635720215 | AHCY,ASIP | c.*24C>G (n.*24C>G) c.*7+11836G>C (n.*7+11836G>C) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269191C>T | CA2652532378 | AHCY,ASIP | c.*24C>T (n.*24C>T) c.*7+11836G>A (n.*7+11836G>A) | gnomAD v4 |
20 | g.34269192A= | CA2361127789 | AHCY,ASIP | c.*25A= (n.*25A=) c.*7+11835T= (n.*7+11835T=) | |
20 | g.34269192A>C | CA2580609036 | AHCY,ASIP | c.*25A>C (n.*25A>C) c.*7+11835T>G (n.*7+11835T>G) | gnomAD v4 |
20 | g.34269192A>G | CA120289 | AHCY,ASIP | c.*25A>G (n.*25A>G) c.*7+11835T>C (n.*7+11835T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.34269192A>T | CA2580609037 | AHCY,ASIP | c.*25A>T (n.*25A>T) c.*7+11835T>A (n.*7+11835T>A) | gnomAD v4 |
20 | g.34269193G>A | CA2816205326 | AHCY,ASIP | c.*26G>A (n.*26G>A) c.*7+11834C>T (n.*7+11834C>T) | |
20 | g.34269193G>C | CA9820716 | AHCY,ASIP | c.*26G>C (n.*26G>C) c.*7+11834C>G (n.*7+11834C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.34269193G= | CA2361127790 | AHCY,ASIP | c.*26G= (n.*26G=) c.*7+11834C= (n.*7+11834C=) | |
20 | g.34269193G>T | CA2652532379 | AHCY,ASIP | c.*26G>T (n.*26G>T) c.*7+11834C>A (n.*7+11834C>A) | gnomAD v4 |
20 | g.34269194G>A | CA2516236823 | AHCY,ASIP | c.*27G>A (n.*27G>A) c.*7+11833C>T (n.*7+11833C>T) | gnomAD v4 |
20 | g.34269194G= | CA2361127791 | AHCY,ASIP | c.*27G= (n.*27G=) c.*7+11833C= (n.*7+11833C=) | |
20 | g.34269194G>T | CA635720221 | AHCY,ASIP | c.*27G>T (n.*27G>T) c.*7+11833C>A (n.*7+11833C>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269195C>A | CA2577375045 | AHCY,ASIP | c.*28C>A (n.*28C>A) c.*7+11832G>T (n.*7+11832G>T) | gnomAD v4 |
20 | g.34269195C= | CA2361127792 | AHCY,ASIP | c.*28C= (n.*28C=) c.*7+11832G= (n.*7+11832G=) | |
20 | g.34269195C>G | CA635720223 | AHCY,ASIP | c.*28C>G (n.*28C>G) c.*7+11832G>C (n.*7+11832G>C) | dbSNP gnomAD v2 |
20 | g.34269195C>T | CA2652532380 | AHCY,ASIP | c.*28C>T (n.*28C>T) c.*7+11832G>A (n.*7+11832G>A) | gnomAD v4 |
20 | g.34269196A= | CA2361127793 | AHCY,ASIP | c.*29A= (n.*29A=) c.*7+11831T= (n.*7+11831T=) | |
20 | g.34269196A>T | CA2361127794 | AHCY,ASIP | c.*29A>T (n.*29A>T) c.*7+11831T>A (n.*7+11831T>A) | dbSNP |
20 | g.34269197G>A | CA743840823 | AHCY,ASIP | c.*30G>A (n.*30G>A) c.*7+11830C>T (n.*7+11830C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269197G= | CA2361127795 | AHCY,ASIP | c.*30G= (n.*30G=) c.*7+11830C= (n.*7+11830C=) | |
20 | g.34269197G>T | CA635720226 | AHCY,ASIP | c.*30G>T (n.*30G>T) c.*7+11830C>A (n.*7+11830C>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269198G>A | CA743840827 | AHCY,ASIP | c.*31G>A (n.*31G>A) c.*7+11829C>T (n.*7+11829C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.34269198G= | CA2361127796 | AHCY,ASIP | c.*31G= (n.*31G=) c.*7+11829C= (n.*7+11829C=) | |
20 | g.34269199G>A | CA2652532381 | AHCY,ASIP | c.*32G>A (n.*32G>A) c.*7+11828C>T (n.*7+11828C>T) | gnomAD v4 |
20 | g.34269199G>T | CA2842741624 | AHCY,ASIP | c.*32G>T (n.*32G>T) c.*7+11828C>A (n.*7+11828C>A) | |
20 | g.34269200C>A | CA635720229 | AHCY,ASIP | c.*33C>A (n.*33C>A) c.*7+11827G>T (n.*7+11827G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.34269200C= | CA2361127797 | AHCY,ASIP | c.*33C= (n.*33C=) c.*7+11827G= (n.*7+11827G=) | |
20 | g.34269201T>A | CA2652532382 | AHCY,ASIP | c.*34T>A (n.*34T>A) c.*7+11826A>T (n.*7+11826A>T) | gnomAD v4 |