| 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.34269092C>A | CA408648610 | AHCY,ASIP | c.324C>A (p.Cys108Ter) c.336C>A (p.Cys112Ter) c.*7+11935G>T (n.*7+11935G>T) | gnomAD v4 |
| 20 | g.34269092C>G | CA408648613 | AHCY,ASIP | c.324C>G (p.Cys108Trp) c.336C>G (p.Cys112Trp) c.*7+11935G>C (n.*7+11935G>C) | |
| 20 | g.34269092C>T | CA510271211 | AHCY,ASIP | c.324C>T (p.Cys108=) c.336C>T (p.Cys112=) c.*7+11935G>A (n.*7+11935G>A) | gnomAD v4 COSMIC |
| 20 | g.34269093G>A | CA408648624 | AHCY,ASIP | c.325G>A (p.Asp109Asn) c.337G>A (p.Asp113Asn) c.*7+11934C>T (n.*7+11934C>T) | dbSNP gnomAD v4 COSMIC |
| 20 | g.34269093G>C | CA408648629 | AHCY,ASIP | c.325G>C (p.Asp109His) c.337G>C (p.Asp113His) c.*7+11934C>G (n.*7+11934C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.34269093G= | CA2361127733 | AHCY,ASIP | c.325G= (p.Asp109=) c.337G= (p.Asp113=) c.*7+11934C= (n.*7+11934C=) | |
| 20 | g.34269093G>T | CA408648627 | AHCY,ASIP | c.325G>T (p.Asp109Tyr) c.337G>T (p.Asp113Tyr) c.*7+11934C>A (n.*7+11934C>A) | gnomAD v4 |
| 20 | g.34269094A>C | CA408648633 | AHCY,ASIP | c.326A>C (p.Asp109Ala) c.338A>C (p.Asp113Ala) c.*7+11933T>G (n.*7+11933T>G) | gnomAD v4 |
| 20 | g.34269094A>G | CA408648639 | AHCY,ASIP | c.326A>G (p.Asp109Gly) c.338A>G (p.Asp113Gly) c.*7+11933T>C (n.*7+11933T>C) | |
| 20 | g.34269094A>T | CA408648641 | AHCY,ASIP | c.326A>T (p.Asp109Val) c.338A>T (p.Asp113Val) c.*7+11933T>A (n.*7+11933T>A) | |
| 20 | g.34269095C>A | CA313334655 | AHCY,ASIP | c.327C>A (p.Asp109Glu) c.339C>A (p.Asp113Glu) c.*7+11932G>T (n.*7+11932G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269095C= | CA2361127734 | AHCY,ASIP | c.327C= (p.Asp109=) c.339C= (p.Asp113=) c.*7+11932G= (n.*7+11932G=) | |
| 20 | g.34269095C>G | CA408648651 | AHCY,ASIP | c.327C>G (p.Asp109Glu) c.339C>G (p.Asp113Glu) c.*7+11932G>C (n.*7+11932G>C) | gnomAD v4 |
| 20 | g.34269095C>T | CA510271212 | AHCY,ASIP | c.327C>T (p.Asp109=) c.339C>T (p.Asp113=) c.*7+11932G>A (n.*7+11932G>A) | |
| 20 | g.34269096C>A | CA408648656 | AHCY,ASIP | c.328C>A (p.Pro110Thr) c.340C>A (p.Pro114Thr) c.*7+11931G>T (n.*7+11931G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.34269096C= | CA2361127735 | AHCY,ASIP | c.328C= (p.Pro110=) c.340C= (p.Pro114=) c.*7+11931G= (n.*7+11931G=) | |
| 20 | g.34269096C>G | CA408648658 | AHCY,ASIP | c.328C>G (p.Pro110Ala) c.340C>G (p.Pro114Ala) c.*7+11931G>C (n.*7+11931G>C) | |
| 20 | g.34269096C>T | CA408648660 | AHCY,ASIP | c.328C>T (p.Pro110Ser) c.340C>T (p.Pro114Ser) c.*7+11931G>A (n.*7+11931G>A) | |
| 20 | g.34269097C>A | CA408648664 | AHCY,ASIP | c.329C>A (p.Pro110Gln) c.341C>A (p.Pro114Gln) c.*7+11930G>T (n.*7+11930G>T) | gnomAD v4 |
| 20 | g.34269097C>G | CA408648667 | AHCY,ASIP | c.329C>G (p.Pro110Arg) c.341C>G (p.Pro114Arg) c.*7+11930G>C (n.*7+11930G>C) | |
| 20 | g.34269097C>T | CA408648671 | AHCY,ASIP | c.329C>T (p.Pro110Leu) c.341C>T (p.Pro114Leu) c.*7+11930G>A (n.*7+11930G>A) | gnomAD v4 |
| 20 | g.34269098G>A | CA9820706 | AHCY,ASIP | c.330G>A (p.Pro110=) c.342G>A (p.Pro114=) c.*7+11929C>T (n.*7+11929C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269098G>C | CA510271213 | AHCY,ASIP | c.330G>C (p.Pro110=) c.342G>C (p.Pro114=) c.*7+11929C>G (n.*7+11929C>G) | |
| 20 | g.34269098G= | CA2361127736 | AHCY,ASIP | c.330G= (p.Pro110=) c.342G= (p.Pro114=) c.*7+11929C= (n.*7+11929C=) | |
| 20 | g.34269098G>T | CA510271214 | AHCY,ASIP | c.330G>T (p.Pro110=) c.342G>T (p.Pro114=) c.*7+11929C>A (n.*7+11929C>A) | |
| 20 | g.34269099T>A | CA408648684 | AHCY,ASIP | c.331T>A (p.Cys111Ser) c.343T>A (p.Cys115Ser) c.*7+11928A>T (n.*7+11928A>T) | |
| 20 | g.34269099T>C | CA408648681 | AHCY,ASIP | c.331T>C (p.Cys111Arg) c.343T>C (p.Cys115Arg) c.*7+11928A>G (n.*7+11928A>G) | gnomAD v4 |
| 20 | g.34269099T>G | CA408648678 | AHCY,ASIP | c.331T>G (p.Cys111Gly) c.343T>G (p.Cys115Gly) c.*7+11928A>C (n.*7+11928A>C) | 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.34269100G>A | CA9820707 | AHCY,ASIP | c.332G>A (p.Cys111Tyr) c.344G>A (p.Cys115Tyr) c.*7+11927C>T (n.*7+11927C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.34269100G>C | CA408648686 | AHCY,ASIP | c.332G>C (p.Cys111Ser) c.344G>C (p.Cys115Ser) c.*7+11927C>G (n.*7+11927C>G) | |
| 20 | g.34269100G= | CA2361127738 | AHCY,ASIP | c.332G= (p.Cys111=) c.344G= (p.Cys115=) c.*7+11927C= (n.*7+11927C=) | |
| 20 | g.34269100G>T | CA408648691 | AHCY,ASIP | c.332G>T (p.Cys111Phe) c.344G>T (p.Cys115Phe) c.*7+11927C>A (n.*7+11927C>A) | |
| 20 | g.34269100dup | CA2591922972 | AHCY,ASIP | c.332dup (p.Cys111TrpfsTer?) c.344dup (p.Cys115TrpfsTer?) c.*7+11927dup (n.*7+11927dup) | gnomAD v3 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 |