Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.87713247_87713267dup | CA2610036376 | PAPSS2 | c.318_338dup (p.Ala113_Gly114insAlaLysLeuPheAlaAspAla) n.361_381dup | gnomAD v4 |
10 | g.87713264_87713269dup | CA2574602573 | PAPSS2 | c.335_340dup (p.Ala113_Gly114insAspAla) n.378_383dup | |
10 | g.87713264_87713269del | CA2574602572 | PAPSS2 | c.335_340del (p.Asp112_Ala113del) n.378_383del | gnomAD v4 |
10 | g.87713267C>A | CA377486920 | PAPSS2 | c.338C>A (p.Ala113Asp) n.381C>A | gnomAD v4 |
10 | g.87713267C>G | CA377486919 | PAPSS2 | c.338C>G (p.Ala113Gly) n.381C>G | |
10 | g.87713267C>T | CA377486918 | PAPSS2 | c.338C>T (p.Ala113Val) n.381C>T | gnomAD v4 |
10 | g.87713275_87713279dup | CA2788891575 | PAPSS2 | c.346_350dup (p.Cys117TrpfsTer?) n.389_393dup | |
10 | g.87713275_87713279del | CA2610036377 | PAPSS2 | c.346_350del (p.Val116HisfsTer13) n.389_393del | gnomAD v4 |
10 | g.87713268T>A | CA470971232 | PAPSS2 | c.339T>A (p.Ala113=) n.382T>A | gnomAD v4 |
10 | g.87713268T>C | CA470971233 | PAPSS2 | c.339T>C (p.Ala113=) n.382T>C | gnomAD v4 |
10 | g.87713268T>G | CA470971234 | PAPSS2 | c.339T>G (p.Ala113=) n.382T>G | |
10 | g.87713269G>A | CA377486921 | PAPSS2 | c.340G>A (p.Gly114Ser) n.383G>A | gnomAD v4 |
10 | g.87713269G>C | CA377486923 | PAPSS2 | c.340G>C (p.Gly114Arg) n.383G>C | |
10 | g.87713269G>T | CA377486922 | PAPSS2 | c.340G>T (p.Gly114Cys) n.383G>T | dbSNP |
10 | g.87713269_87713270insACCA | CA2610036378 | PAPSS2 | c.340_341insACCA (p.Gly114AspfsTer18) n.383_384insACCA | gnomAD v4 |
10 | g.87713269_87713270insACCAGACCAGCATCA | CA2610036379 | PAPSS2 | c.340_341insACCAGACCAGCATCA (p.Gly114delinsAspGlnThrSerIleSer) n.383_384insACCAGACCAGCATCA | gnomAD v4 |
10 | g.87713270G>A | CA377486924 | PAPSS2 | c.341G>A (p.Gly114Asp) n.384G>A | |
10 | g.87713270G>C | CA5589399 | PAPSS2 | c.341G>C (p.Gly114Ala) n.384G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87713270G= | CA1926074939 | PAPSS2 | c.341G= (p.Gly114=) n.384G= | |
10 | g.87713270G>T | CA377486925 | PAPSS2 | c.341G>T (p.Gly114Val) n.384G>T | gnomAD v3 gnomAD v4 |
10 | g.87713271T>A | CA470971236 | PAPSS2 | c.342T>A (p.Gly114=) n.385T>A | gnomAD v4 |
10 | g.87713271T>C | CA470971237 | PAPSS2 | c.342T>C (p.Gly114=) n.385T>C | |
10 | g.87713271T>G | CA470971238 | PAPSS2 | c.342T>G (p.Gly114=) n.385T>G | |
10 | g.87713271_87713272insAATGCAGACCAGACCAGCAT | CA2610036380 | PAPSS2 | c.342_343insAATGCAGACCAGACCAGCAT (p.Leu115AsnfsTer?) n.385_386insAATGCAGACCAGACCAGCAT | gnomAD v4 |
10 | g.87713271_87713272insAATGCAGAC | CA2610036381 | PAPSS2 | c.342_343insAATGCAGAC (p.Gly114_Leu115insAsnAlaAsp) n.385_386insAATGCAGAC | gnomAD v4 |
10 | g.87713272C>A | CA377486926 | PAPSS2 | c.343C>A (p.Leu115Met) n.386C>A | gnomAD v4 |
10 | g.87713272C= | CA1926074940 | PAPSS2 | c.343C= (p.Leu115=) n.386C= | |
10 | g.87713272C>G | CA377486927 | PAPSS2 | c.343C>G (p.Leu115Val) n.386C>G | |
10 | g.87713272C>T | CA5589400 | PAPSS2 | c.343C>T (p.Leu115=) n.386C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87713273T>A | CA377486928 | PAPSS2 | c.344T>A (p.Leu115Gln) n.387T>A | gnomAD v4 |
10 | g.87713273T>C | CA5589401 | PAPSS2 | c.344T>C (p.Leu115Pro) n.387T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87713273T>G | CA377486929 | PAPSS2 | c.344T>G (p.Leu115Arg) n.387T>G | |
10 | g.87713273T= | CA1926074941 | PAPSS2 | c.344T= (p.Leu115=) n.387T= | |
10 | g.87713273_87713276del | CA2610036382 | PAPSS2 | c.344_347del (p.Leu115ProfsTer?) n.387_390del | gnomAD v4 |
10 | g.87713274G>A | CA470971242 | PAPSS2 | c.345G>A (p.Leu115=) n.388G>A | gnomAD v4 |
10 | g.87713274G>C | CA470971240 | PAPSS2 | c.345G>C (p.Leu115=) n.388G>C | gnomAD v4 |
10 | g.87713274G>T | CA470971241 | PAPSS2 | c.345G>T (p.Leu115=) n.388G>T | gnomAD v3 gnomAD v4 |
10 | g.87713275del | CA2610036383 | PAPSS2 | c.346del (p.Val116SerfsTer?) n.389del | gnomAD v4 |
10 | g.87713275G>A | CA377486930 | PAPSS2 | c.346G>A (p.Val116Ile) n.389G>A | gnomAD v4 |
10 | g.87713275G>C | CA377486931 | PAPSS2 | c.346G>C (p.Val116Leu) n.389G>C | |
10 | g.87713275G>T | CA377486932 | PAPSS2 | c.346G>T (p.Val116Phe) n.389G>T | gnomAD v4 |
10 | g.87713276T>A | CA377486933 | PAPSS2 | c.347T>A (p.Val116Asp) n.390T>A | |
10 | g.87713276T>C | CA377486934 | PAPSS2 | c.347T>C (p.Val116Ala) n.390T>C | gnomAD v4 |
10 | g.87713276T>G | CA377486935 | PAPSS2 | c.347T>G (p.Val116Gly) n.390T>G | |
10 | g.87713277C>A | CA470971247 | PAPSS2 | c.348C>A (p.Val116=) n.391C>A | gnomAD v4 |
10 | g.87713277C= | CA1926074942 | PAPSS2 | c.348C= (p.Val116=) n.391C= | |
10 | g.87713277C>G | CA470971245 | PAPSS2 | c.348C>G (p.Val116=) n.391C>G | dbSNP gnomAD v2 |
10 | g.87713277C>T | CA470971244 | PAPSS2 | c.348C>T (p.Val116=) n.391C>T | |
10 | g.87713278T>A | CA377486938 | PAPSS2 | c.349T>A (p.Cys117Ser) n.392T>A | gnomAD v4 |
10 | g.87713278T>C | CA377486936 | PAPSS2 | c.349T>C (p.Cys117Arg) n.392T>C | gnomAD v4 |