Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.87727218G>A | CA1926080723 | PAPSS2 | c.881-66G>A (n.881-66G>A) c.866-66G>A (n.866-66G>A) | dbSNP gnomAD v4 |
10 | g.87727218G= | CA1926080722 | PAPSS2 | c.881-66G= (n.881-66G=) c.866-66G= (n.866-66G=) | |
10 | g.87727218G>T | CA2610038226 | PAPSS2 | c.881-66G>T (n.881-66G>T) c.866-66G>T (n.866-66G>T) | gnomAD v4 |
10 | g.87727219A>T | CA2610038227 | PAPSS2 | c.881-65A>T (n.881-65A>T) c.866-65A>T (n.866-65A>T) | gnomAD v4 |
10 | g.87727220T>C | CA2574602737 | PAPSS2 | c.881-64T>C (n.881-64T>C) c.866-64T>C (n.866-64T>C) | |
10 | g.87727222C>A | CA2574602738 | PAPSS2 | c.881-62C>A (n.881-62C>A) c.866-62C>A (n.866-62C>A) | gnomAD v4 |
10 | g.87727222C>T | CA2574602739 | PAPSS2 | c.881-62C>T (n.881-62C>T) c.866-62C>T (n.866-62C>T) | |
10 | g.87727223A= | CA1926080724 | PAPSS2 | c.881-61A= (n.881-61A=) c.866-61A= (n.866-61A=) | |
10 | g.87727223A>G | CA1926080725 | PAPSS2 | c.881-61A>G (n.881-61A>G) c.866-61A>G (n.866-61A>G) | dbSNP gnomAD v4 |
10 | g.87727224T>C | CA2610038228 | PAPSS2 | c.881-60T>C (n.881-60T>C) c.866-60T>C (n.866-60T>C) | gnomAD v4 |
10 | g.87727224T>G | CA2574602740 | PAPSS2 | c.881-60T>G (n.881-60T>G) c.866-60T>G (n.866-60T>G) | gnomAD v4 |
10 | g.87727225G>C | CA2610038229 | PAPSS2 | c.881-59G>C (n.881-59G>C) c.866-59G>C (n.866-59G>C) | gnomAD v4 |
10 | g.87727226C>A | CA2610038230 | PAPSS2 | c.881-58C>A (n.881-58C>A) c.866-58C>A (n.866-58C>A) | gnomAD v4 |
10 | g.87727226C>T | CA2574602741 | PAPSS2 | c.881-58C>T (n.881-58C>T) c.866-58C>T (n.866-58C>T) | gnomAD v4 |
10 | g.87727229C>T | CA2610038231 | PAPSS2 | c.881-55C>T (n.881-55C>T) c.866-55C>T (n.866-55C>T) | gnomAD v4 |
10 | g.87727232G>A | CA594916577 | PAPSS2 | c.881-52G>A (n.881-52G>A) c.866-52G>A (n.866-52G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727232G= | CA1926080726 | PAPSS2 | c.881-52G= (n.881-52G=) c.866-52G= (n.866-52G=) | |
10 | g.87727234A>T | CA2610038232 | PAPSS2 | c.881-50A>T (n.881-50A>T) c.866-50A>T (n.866-50A>T) | gnomAD v4 |
10 | g.87727235T>C | CA5589587 | PAPSS2 | c.881-49T>C (n.881-49T>C) c.866-49T>C (n.866-49T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727235T= | CA1926080727 | PAPSS2 | c.881-49T= (n.881-49T=) c.866-49T= (n.866-49T=) | |
10 | g.87727236G>T | CA2610038233 | PAPSS2 | c.881-48G>T (n.881-48G>T) c.866-48G>T (n.866-48G>T) | gnomAD v4 |
10 | g.87727237G>A | CA2574602742 | PAPSS2 | c.881-47G>A (n.881-47G>A) c.866-47G>A (n.866-47G>A) | |
10 | g.87727238C>A | CA2610038234 | PAPSS2 | c.881-46C>A (n.881-46C>A) c.866-46C>A (n.866-46C>A) | gnomAD v4 |
10 | g.87727238C>T | CA2610038235 | PAPSS2 | c.881-46C>T (n.881-46C>T) c.866-46C>T (n.866-46C>T) | dbSNP gnomAD v4 |
10 | g.87727239A= | CA1926080728 | PAPSS2 | c.881-45A= (n.881-45A=) c.866-45A= (n.866-45A=) | |
10 | g.87727239A>C | CA5589588 | PAPSS2 | c.881-45A>C (n.881-45A>C) c.866-45A>C (n.866-45A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727240C= | CA1926080729 | PAPSS2 | c.881-44C= (n.881-44C=) c.866-44C= (n.866-44C=) | |
10 | g.87727240C>T | CA594916584 | PAPSS2 | c.881-44C>T (n.881-44C>T) c.866-44C>T (n.866-44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727242C>A | CA5589589 | PAPSS2 | c.881-42C>A (n.881-42C>A) c.866-42C>A (n.866-42C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727242C= | CA1926080730 | PAPSS2 | c.881-42C= (n.881-42C=) c.866-42C= (n.866-42C=) | |
10 | g.87727242C>G | CA594916586 | PAPSS2 | c.881-42C>G (n.881-42C>G) c.866-42C>G (n.866-42C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727242C>T | CA669556561 | PAPSS2 | c.881-42C>T (n.881-42C>T) c.866-42C>T (n.866-42C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727243C>G | CA2610038236 | PAPSS2 | c.881-41C>G (n.881-41C>G) c.866-41C>G (n.866-41C>G) | gnomAD v4 |
10 | g.87727243C>T | CA2574602743 | PAPSS2 | c.881-41C>T (n.881-41C>T) c.866-41C>T (n.866-41C>T) | dbSNP gnomAD v4 |
10 | g.87727245T>C | CA5589590 | PAPSS2 | c.881-39T>C (n.881-39T>C) c.866-39T>C (n.866-39T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727245T= | CA1926080731 | PAPSS2 | c.881-39T= (n.881-39T=) c.866-39T= (n.866-39T=) | |
10 | g.87727245_87727246insG | CA1926080732 | PAPSS2 | c.881-39_881-38insG (n.881-39_881-38insG) c.866-39_866-38insG (n.866-39_866-38insG) | dbSNP gnomAD v4 |
10 | g.87727246A= | CA1926080733 | PAPSS2 | c.881-38A= (n.881-38A=) c.866-38A= (n.866-38A=) | |
10 | g.87727246A>C | CA594916590 | PAPSS2 | c.881-38A>C (n.881-38A>C) c.866-38A>C (n.866-38A>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727246A>G | CA2574602744 | PAPSS2 | c.881-38A>G (n.881-38A>G) c.866-38A>G (n.866-38A>G) | |
10 | g.87727246_87727251delinsATATCT | CA1926080734 | PAPSS2 | c.881-38_881-33delinsATATCT (n.881-38_881-33delinsATATCT) c.866-38_866-33delinsATATCT (n.866-38_866-33delinsATATCT) | |
10 | g.87727247T>C | CA2722391383 | PAPSS2 | c.881-37T>C (n.881-37T>C) c.866-37T>C (n.866-37T>C) | dbSNP |
10 | g.87727247_87727251del | CA1926080735 | PAPSS2 | c.881-37_881-33del (n.881-37_881-33del) c.866-37_866-33del (n.866-37_866-33del) | dbSNP gnomAD v4 |
10 | g.87727248A>G | CA2574602745 | PAPSS2 | c.881-36A>G (n.881-36A>G) c.866-36A>G (n.866-36A>G) | |
10 | g.87727250C>A | CA2610038237 | PAPSS2 | c.881-34C>A (n.881-34C>A) c.866-34C>A (n.866-34C>A) | gnomAD v4 |
10 | g.87727250C= | CA1926080736 | PAPSS2 | c.881-34C= (n.881-34C=) c.866-34C= (n.866-34C=) | |
10 | g.87727250C>G | CA5589591 | PAPSS2 | c.881-34C>G (n.881-34C>G) c.866-34C>G (n.866-34C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727250C>T | CA1926080737 | PAPSS2 | c.881-34C>T (n.881-34C>T) c.866-34C>T (n.866-34C>T) | dbSNP |
10 | g.87727252_87727253insATA | CA2610038238 | PAPSS2 | c.881-32_881-31insATA (n.881-32_881-31insATA) c.866-32_866-31insATA (n.866-32_866-31insATA) | gnomAD v4 |
10 | g.87727252del | CA2574602746 | PAPSS2 | c.881-32del (n.881-32del) c.866-32del (n.866-32del) | |
10 | g.87727252A>G | CA2610038239 | PAPSS2 | c.881-32A>G (n.881-32A>G) c.866-32A>G (n.866-32A>G) | gnomAD v4 |
10 | g.87727253G>C | CA2512497846 | PAPSS2 | c.881-31G>C (n.881-31G>C) c.866-31G>C (n.866-31G>C) | |
10 | g.87727254T>A | CA2570046069 | PAPSS2 | c.881-30T>A (n.881-30T>A) c.866-30T>A (n.866-30T>A) | |
10 | g.87727254T>C | CA5589592 | PAPSS2 | c.881-30T>C (n.881-30T>C) c.866-30T>C (n.866-30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727254T= | CA1926080738 | PAPSS2 | c.881-30T= (n.881-30T=) c.866-30T= (n.866-30T=) | |
10 | g.87727255T>C | CA2610038240 | PAPSS2 | c.881-29T>C (n.881-29T>C) c.866-29T>C (n.866-29T>C) | gnomAD v4 |
10 | g.87727256T>C | CA5589593 | PAPSS2 | c.881-28T>C (n.881-28T>C) c.866-28T>C (n.866-28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727256T= | CA1926080739 | PAPSS2 | c.881-28T= (n.881-28T=) c.866-28T= (n.866-28T=) | |
10 | g.87727256_87727257insCTATAATGACAAG | CA2509036107 | PAPSS2 | c.881-28_881-27insCTATAATGACAAG (n.881-28_881-27insCTATAATGACAAG) c.866-28_866-27insCTATAATGACAAG (n.866-28_866-27insCTATAATGACAAG) | |
10 | g.87727257T>C | CA594916594 | PAPSS2 | c.881-27T>C (n.881-27T>C) c.866-27T>C (n.866-27T>C) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727257T= | CA1926080740 | PAPSS2 | c.881-27T= (n.881-27T=) c.866-27T= (n.866-27T=) | |
10 | g.87727258C>A | CA2610038241 | PAPSS2 | c.881-26C>A (n.881-26C>A) c.866-26C>A (n.866-26C>A) | gnomAD v4 |
10 | g.87727258C= | CA1926080741 | PAPSS2 | c.881-26C= (n.881-26C=) c.866-26C= (n.866-26C=) | |
10 | g.87727258C>T | CA5589594 | PAPSS2 | c.881-26C>T (n.881-26C>T) c.866-26C>T (n.866-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727259G>A | CA5589595 | PAPSS2 | c.881-25G>A (n.881-25G>A) c.866-25G>A (n.866-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727259G>C | CA2610038242 | PAPSS2 | c.881-25G>C (n.881-25G>C) c.866-25G>C (n.866-25G>C) | gnomAD v4 |
10 | g.87727259G= | CA1926080742 | PAPSS2 | c.881-25G= (n.881-25G=) c.866-25G= (n.866-25G=) | |
10 | g.87727259G>T | CA5589596 | PAPSS2 | c.881-25G>T (n.881-25G>T) c.866-25G>T (n.866-25G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727261G>A | CA2610038243 | PAPSS2 | c.881-23G>A (n.881-23G>A) c.866-23G>A (n.866-23G>A) | gnomAD v4 |
10 | g.87727262C>A | CA2610038244 | PAPSS2 | c.881-22C>A (n.881-22C>A) c.866-22C>A (n.866-22C>A) | gnomAD v4 |
10 | g.87727262C= | CA1926080743 | PAPSS2 | c.881-22C= (n.881-22C=) c.866-22C= (n.866-22C=) | |
10 | g.87727262C>T | CA1926080744 | PAPSS2 | c.881-22C>T (n.881-22C>T) c.866-22C>T (n.866-22C>T) | dbSNP gnomAD v4 |
10 | g.87727265C>A | CA2610038245 | PAPSS2 | c.881-19C>A (n.881-19C>A) c.866-19C>A (n.866-19C>A) | gnomAD v4 |
10 | g.87727265_87727266insTT | CA2739275885 | PAPSS2 | c.881-19_881-18insTT (n.881-19_881-18insTT) c.866-19_866-18insTT (n.866-19_866-18insTT) | ClinVar |
10 | g.87727266A>T | CA2739275886 | PAPSS2 | c.881-18A>T (n.881-18A>T) c.866-18A>T (n.866-18A>T) | ClinVar |
10 | g.87727267C>A | CA2610038246 | PAPSS2 | c.881-17C>A (n.881-17C>A) c.866-17C>A (n.866-17C>A) | gnomAD v4 |
10 | g.87727267C= | CA1926080745 | PAPSS2 | c.881-17C= (n.881-17C=) c.866-17C= (n.866-17C=) | |
10 | g.87727267C>T | CA5589597 | PAPSS2 | c.881-17C>T (n.881-17C>T) c.866-17C>T (n.866-17C>T) | dbSNP ExAC gnomAD v4 |
10 | g.87727268A>G | CA2788891767 | PAPSS2 | c.881-16A>G (n.881-16A>G) c.866-16A>G (n.866-16A>G) | |
10 | g.87727269T>C | CA2610038247 | PAPSS2 | c.881-15T>C (n.881-15T>C) c.866-15T>C (n.866-15T>C) | gnomAD v4 |
10 | g.87727269T>G | CA2574602747 | PAPSS2 | c.881-15T>G (n.881-15T>G) c.866-15T>G (n.866-15T>G) | |
10 | g.87727274C= | CA1926080746 | PAPSS2 | c.881-10C= (n.881-10C=) c.866-10C= (n.866-10C=) | |
10 | g.87727274C>T | CA5589598 | PAPSS2 | c.881-10C>T (n.881-10C>T) c.866-10C>T (n.866-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727277T>C | CA211271613 | PAPSS2 | c.881-7T>C (n.881-7T>C) c.866-7T>C (n.866-7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727277T= | CA1926080747 | PAPSS2 | c.881-7T= (n.881-7T=) c.866-7T= (n.866-7T=) | |
10 | g.87727278C= | CA1926080748 | PAPSS2 | c.881-6C= (n.881-6C=) c.866-6C= (n.866-6C=) | |
10 | g.87727278C>G | CA211271614 | PAPSS2 | c.881-6C>G (n.881-6C>G) c.866-6C>G (n.866-6C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727282A>C | CA377489268 | PAPSS2 | c.881-2A>C (n.881-2A>C) c.866-2A>C (n.866-2A>C) | |
10 | g.87727282A>G | CA377489269 | PAPSS2 | c.881-2A>G (n.881-2A>G) c.866-2A>G (n.866-2A>G) | |
10 | g.87727282A>T | CA377489270 | PAPSS2 | c.881-2A>T (n.881-2A>T) c.866-2A>T (n.866-2A>T) | |
10 | g.87727283G>A | CA377489273 | PAPSS2 | c.881-1G>A (n.881-1G>A) c.866-1G>A (n.866-1G>A) | |
10 | g.87727283G>C | CA377489271 | PAPSS2 | c.881-1G>C (n.881-1G>C) c.866-1G>C (n.866-1G>C) | gnomAD v4 |
10 | g.87727283G>T | CA377489272 | PAPSS2 | c.881-1G>T (n.881-1G>T) c.866-1G>T (n.866-1G>T) | |
10 | g.87727284A>C | CA377489274 | PAPSS2 | c.881A>C (p.Asp294Ala) c.866A>C (p.Asp289Ala) | |
10 | g.87727284A>G | CA377489275 | PAPSS2 | c.881A>G (p.Asp294Gly) c.866A>G (p.Asp289Gly) | |
10 | g.87727284A>T | CA377489276 | PAPSS2 | c.881A>T (p.Asp294Val) c.866A>T (p.Asp289Val) | |
10 | g.87727285T>A | CA5589599 | PAPSS2 | c.882T>A (p.Asp294Glu) c.867T>A (p.Asp289Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727285T>C | CA470667986 | PAPSS2 | c.882T>C (p.Asp294=) c.867T>C (p.Asp289=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727285T>G | CA377489277 | PAPSS2 | c.882T>G (p.Asp294Glu) c.867T>G (p.Asp289Glu) | |
10 | g.87727285T= | CA1926080749 | PAPSS2 | c.882T= (p.Asp294=) c.867T= (p.Asp289=) | |
10 | g.87727286G>A | CA5589600 | PAPSS2 | c.883G>A (p.Gly295Ser) c.868G>A (p.Gly290Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727286G>C | CA377489279 | PAPSS2 | c.883G>C (p.Gly295Arg) c.868G>C (p.Gly290Arg) | |
10 | g.87727286G= | CA1926080750 | PAPSS2 | c.883G= (p.Gly295=) c.868G= (p.Gly290=) | |
10 | g.87727286G>T | CA377489278 | PAPSS2 | c.883G>T (p.Gly295Cys) c.868G>T (p.Gly290Cys) | |
10 | g.87727287G>A | CA5589601 | PAPSS2 | c.884G>A (p.Gly295Asp) c.869G>A (p.Gly290Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727287G>C | CA211271636 | PAPSS2 | c.884G>C (p.Gly295Ala) c.869G>C (p.Gly290Ala) | dbSNP gnomAD v4 |
10 | g.87727287G= | CA1926080751 | PAPSS2 | c.884G= (p.Gly295=) c.869G= (p.Gly290=) | |
10 | g.87727287G>T | CA377489280 | PAPSS2 | c.884G>T (p.Gly295Val) c.869G>T (p.Gly290Val) | COSMIC |
10 | g.87727288C>A | CA470667999 | PAPSS2 | c.885C>A (p.Gly295=) c.870C>A (p.Gly290=) | |
10 | g.87727288C= | CA1926080752 | PAPSS2 | c.885C= (p.Gly295=) c.870C= (p.Gly290=) | |
10 | g.87727288C>G | CA470668001 | PAPSS2 | c.885C>G (p.Gly295=) c.870C>G (p.Gly290=) | ClinVar dbSNP gnomAD v4 |
10 | g.87727288C>T | CA5589602 | PAPSS2 | c.885C>T (p.Gly295=) c.870C>T (p.Gly290=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727289G>A | CA5589603 | PAPSS2 | c.886G>A (p.Val296Met) c.871G>A (p.Val291Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727289G>C | CA377489281 | PAPSS2 | c.886G>C (p.Val296Leu) c.871G>C (p.Val291Leu) | |
10 | g.87727289G= | CA1926080753 | PAPSS2 | c.886G= (p.Val296=) c.871G= (p.Val291=) | |
10 | g.87727289G>T | CA377489282 | PAPSS2 | c.886G>T (p.Val296Leu) c.871G>T (p.Val291Leu) | |
10 | g.87727290T>A | CA377489283 | PAPSS2 | c.887T>A (p.Val296Glu) c.872T>A (p.Val291Glu) | |
10 | g.87727290T>C | CA377489284 | PAPSS2 | c.887T>C (p.Val296Ala) c.872T>C (p.Val291Ala) | |
10 | g.87727290T>G | CA377489285 | PAPSS2 | c.887T>G (p.Val296Gly) c.872T>G (p.Val291Gly) | |
10 | g.87727291G>A | CA470668009 | PAPSS2 | c.888G>A (p.Val296=) c.873G>A (p.Val291=) | |
10 | g.87727291G>C | CA470668011 | PAPSS2 | c.888G>C (p.Val296=) c.873G>C (p.Val291=) | |
10 | g.87727291G>T | CA470668012 | PAPSS2 | c.888G>T (p.Val296=) c.873G>T (p.Val291=) | |
10 | g.87727292A>C | CA377489288 | PAPSS2 | c.889A>C (p.Ile297Leu) c.874A>C (p.Ile292Leu) | |
10 | g.87727292A>G | CA377489287 | PAPSS2 | c.889A>G (p.Ile297Val) c.874A>G (p.Ile292Val) | gnomAD v4 |
10 | g.87727292A>T | CA377489286 | PAPSS2 | c.889A>T (p.Ile297Phe) c.874A>T (p.Ile292Phe) | |
10 | g.87727293T>A | CA377489289 | PAPSS2 | c.890T>A (p.Ile297Asn) c.875T>A (p.Ile292Asn) | |
10 | g.87727293T>C | CA377489291 | PAPSS2 | c.890T>C (p.Ile297Thr) c.875T>C (p.Ile292Thr) | dbSNP |
10 | g.87727293T>G | CA377489290 | PAPSS2 | c.890T>G (p.Ile297Ser) c.875T>G (p.Ile292Ser) | |
10 | g.87727293T= | CA1926080754 | PAPSS2 | c.890T= (p.Ile297=) c.875T= (p.Ile292=) | |
10 | g.87727294C>A | CA211271659 | PAPSS2 | c.891C>A (p.Ile297=) c.876C>A (p.Ile292=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727294C= | CA1926080755 | PAPSS2 | c.891C= (p.Ile297=) c.876C= (p.Ile292=) | |
10 | g.87727294C>G | CA5589604 | PAPSS2 | c.891C>G (p.Ile297Met) c.876C>G (p.Ile292Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727294C>T | CA5589605 | PAPSS2 | c.891C>T (p.Ile297=) c.876C>T (p.Ile292=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727295A>C | CA377489292 | PAPSS2 | c.892A>C (p.Asn298His) c.877A>C (p.Asn293His) | |
10 | g.87727295A>G | CA377489293 | PAPSS2 | c.892A>G (p.Asn298Asp) c.877A>G (p.Asn293Asp) | |
10 | g.87727295A>T | CA377489294 | PAPSS2 | c.892A>T (p.Asn298Tyr) c.877A>T (p.Asn293Tyr) | |
10 | g.87727296A>C | CA377489295 | PAPSS2 | c.893A>C (p.Asn298Thr) c.878A>C (p.Asn293Thr) | |
10 | g.87727296A>G | CA377489296 | PAPSS2 | c.893A>G (p.Asn298Ser) c.878A>G (p.Asn293Ser) | gnomAD v4 |
10 | g.87727296A>T | CA377489297 | PAPSS2 | c.893A>T (p.Asn298Ile) c.878A>T (p.Asn293Ile) | |
10 | g.87727297C>A | CA377489298 | PAPSS2 | c.894C>A (p.Asn298Lys) c.879C>A (p.Asn293Lys) | |
10 | g.87727297C>G | CA377489299 | PAPSS2 | c.894C>G (p.Asn298Lys) c.879C>G (p.Asn293Lys) | |
10 | g.87727297C>T | CA470668033 | PAPSS2 | c.894C>T (p.Asn298=) c.879C>T (p.Asn293=) | gnomAD v4 |
10 | g.87727298A= | CA1926080756 | PAPSS2 | c.895A= (p.Met299=) c.880A= (p.Met294=) | |
10 | g.87727298A>C | CA377489302 | PAPSS2 | c.895A>C (p.Met299Leu) c.880A>C (p.Met294Leu) | gnomAD v4 |
10 | g.87727298A>G | CA377489301 | PAPSS2 | c.895A>G (p.Met299Val) c.880A>G (p.Met294Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727298A>T | CA377489300 | PAPSS2 | c.895A>T (p.Met299Leu) c.880A>T (p.Met294Leu) | gnomAD v4 |
10 | g.87727299T>A | CA377489303 | PAPSS2 | c.896T>A (p.Met299Lys) c.881T>A (p.Met294Lys) | |
10 | g.87727299T>C | CA377489304 | PAPSS2 | c.896T>C (p.Met299Thr) c.881T>C (p.Met294Thr) | dbSNP |
10 | g.87727299T>G | CA377489305 | PAPSS2 | c.896T>G (p.Met299Arg) c.881T>G (p.Met294Arg) | |
10 | g.87727299T= | CA1926080757 | PAPSS2 | c.896T= (p.Met299=) c.881T= (p.Met294=) | |
10 | g.87727300G>A | CA377489306 | PAPSS2 | c.897G>A (p.Met299Ile) c.882G>A (p.Met294Ile) | |
10 | g.87727300G>C | CA377489307 | PAPSS2 | c.897G>C (p.Met299Ile) c.882G>C (p.Met294Ile) | |
10 | g.87727300G>T | CA377489308 | PAPSS2 | c.897G>T (p.Met299Ile) c.882G>T (p.Met294Ile) | |
10 | g.87727301A= | CA1926080758 | PAPSS2 | c.898A= (p.Ser300=) c.883A= (p.Ser295=) | |
10 | g.87727301A>C | CA377489309 | PAPSS2 | c.898A>C (p.Ser300Arg) c.883A>C (p.Ser295Arg) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727301A>G | CA377489310 | PAPSS2 | c.898A>G (p.Ser300Gly) c.883A>G (p.Ser295Gly) | |
10 | g.87727301A>T | CA377489311 | PAPSS2 | c.898A>T (p.Ser300Cys) c.883A>T (p.Ser295Cys) | |
10 | g.87727302G>A | CA377489312 | PAPSS2 | c.899G>A (p.Ser300Asn) c.884G>A (p.Ser295Asn) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727302G>C | CA377489313 | PAPSS2 | c.899G>C (p.Ser300Thr) c.884G>C (p.Ser295Thr) | |
10 | g.87727302G= | CA1926080759 | PAPSS2 | c.899G= (p.Ser300=) c.884G= (p.Ser295=) | |
10 | g.87727302G>T | CA377489314 | PAPSS2 | c.899G>T (p.Ser300Ile) c.884G>T (p.Ser295Ile) | gnomAD v4 |
10 | g.87727303C>A | CA377489316 | PAPSS2 | c.900C>A (p.Ser300Arg) c.885C>A (p.Ser295Arg) | |
10 | g.87727303C>G | CA377489315 | PAPSS2 | c.900C>G (p.Ser300Arg) c.885C>G (p.Ser295Arg) | |
10 | g.87727303C>T | CA470668052 | PAPSS2 | c.900C>T (p.Ser300=) c.885C>T (p.Ser295=) | |
10 | g.87727304A>C | CA377489317 | PAPSS2 | c.901A>C (p.Ile301Leu) c.886A>C (p.Ile296Leu) | |
10 | g.87727304A>G | CA377489318 | PAPSS2 | c.901A>G (p.Ile301Val) c.886A>G (p.Ile296Val) | |
10 | g.87727304A>T | CA377489319 | PAPSS2 | c.901A>T (p.Ile301Phe) c.886A>T (p.Ile296Phe) | |
10 | g.87727305T>A | CA377489320 | PAPSS2 | c.902T>A (p.Ile301Asn) c.887T>A (p.Ile296Asn) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727305T>C | CA377489321 | PAPSS2 | c.902T>C (p.Ile301Thr) c.887T>C (p.Ile296Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727305T>G | CA377489322 | PAPSS2 | c.902T>G (p.Ile301Ser) c.887T>G (p.Ile296Ser) | |
10 | g.87727305T= | CA1926080761 | PAPSS2 | c.902T= (p.Ile301=) c.887T= (p.Ile296=) | |
10 | g.87727305_87727306delinsTC | CA1926080760 | PAPSS2 | c.902_903delinsTC (p.Ile301=) c.887_888delinsTC (p.Ile296=) | |
10 | g.87727306C>A | CA470668060 | PAPSS2 | c.903C>A (p.Ile301=) c.888C>A (p.Ile296=) | dbSNP gnomAD v4 |
10 | g.87727306C= | CA1926080762 | PAPSS2 | c.903C= (p.Ile301=) c.888C= (p.Ile296=) | |
10 | g.87727306C>G | CA377489323 | PAPSS2 | c.903C>G (p.Ile301Met) c.888C>G (p.Ile296Met) | |
10 | g.87727306C>T | CA211271667 | PAPSS2 | c.903C>T (p.Ile301=) c.888C>T (p.Ile296=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.87727309del | CA930899645 | PAPSS2 | c.906del (p.Ile303LeufsTer28) c.891del (p.Ile298LeufsTer28) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727307C>A | CA377489324 | PAPSS2 | c.904C>A (p.Pro302Thr) c.889C>A (p.Pro297Thr) | |
10 | g.87727307C= | CA1926080763 | PAPSS2 | c.904C= (p.Pro302=) c.889C= (p.Pro297=) | |
10 | g.87727307C>G | CA377489325 | PAPSS2 | c.904C>G (p.Pro302Ala) c.889C>G (p.Pro297Ala) | dbSNP |
10 | g.87727307C>T | CA377489326 | PAPSS2 | c.904C>T (p.Pro302Ser) c.889C>T (p.Pro297Ser) | |
10 | g.87727308C>A | CA377489327 | PAPSS2 | c.905C>A (p.Pro302His) c.890C>A (p.Pro297His) | |
10 | g.87727308C= | CA1926080764 | PAPSS2 | c.905C= (p.Pro302=) c.890C= (p.Pro297=) | |
10 | g.87727308C>G | CA377489328 | PAPSS2 | c.905C>G (p.Pro302Arg) c.890C>G (p.Pro297Arg) | dbSNP |
10 | g.87727308C>T | CA377489329 | PAPSS2 | c.905C>T (p.Pro302Leu) c.890C>T (p.Pro297Leu) | |
10 | g.87727309C>A | CA470668068 | PAPSS2 | c.906C>A (p.Pro302=) c.891C>A (p.Pro297=) | |
10 | g.87727309C>G | CA470668070 | PAPSS2 | c.906C>G (p.Pro302=) c.891C>G (p.Pro297=) | |
10 | g.87727309C>T | CA470668072 | PAPSS2 | c.906C>T (p.Pro302=) c.891C>T (p.Pro297=) | |
10 | g.87727310A= | CA1926080765 | PAPSS2 | c.907A= (p.Ile303=) c.892A= (p.Ile298=) | |
10 | g.87727310A>C | CA5589607 | PAPSS2 | c.907A>C (p.Ile303Leu) c.892A>C (p.Ile298Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.87727310A>G | CA5589606 | PAPSS2 | c.907A>G (p.Ile303Val) c.892A>G (p.Ile298Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.87727310A>T | CA377489330 | PAPSS2 | c.907A>T (p.Ile303Phe) c.892A>T (p.Ile298Phe) | |
10 | g.87727311T>A | CA377489331 | PAPSS2 | c.908T>A (p.Ile303Asn) c.893T>A (p.Ile298Asn) | |
10 | g.87727311T>C | CA377489332 | PAPSS2 | c.908T>C (p.Ile303Thr) c.893T>C (p.Ile298Thr) | |
10 | g.87727311T>G | CA377489333 | PAPSS2 | c.908T>G (p.Ile303Ser) c.893T>G (p.Ile298Ser) | |
10 | g.87727312T>A | CA470668087 | PAPSS2 | c.909T>A (p.Ile303=) c.894T>A (p.Ile298=) | gnomAD v4 |
10 | g.87727312T>C | CA470668091 | PAPSS2 | c.909T>C (p.Ile303=) c.894T>C (p.Ile298=) | |
10 | g.87727312T>G | CA377489334 | PAPSS2 | c.909T>G (p.Ile303Met) c.894T>G (p.Ile298Met) | |
10 | g.87727313G>A | CA377489335 | PAPSS2 | c.910G>A (p.Val304Ile) c.895G>A (p.Val299Ile) | |
10 | g.87727313G>C | CA377489336 | PAPSS2 | c.910G>C (p.Val304Leu) c.895G>C (p.Val299Leu) | |
10 | g.87727313G>T | CA377489337 | PAPSS2 | c.910G>T (p.Val304Leu) c.895G>T (p.Val299Leu) | |
10 | g.87727314T>A | CA377489338 | PAPSS2 | c.911T>A (p.Val304Glu) c.896T>A (p.Val299Glu) | |
10 | g.87727314T>C | CA377489339 | PAPSS2 | c.911T>C (p.Val304Ala) c.896T>C (p.Val299Ala) | |
10 | g.87727314T>G | CA377489340 | PAPSS2 | c.911T>G (p.Val304Gly) c.896T>G (p.Val299Gly) | |
10 | g.87727315A>C | CA470668099 | PAPSS2 | c.912A>C (p.Val304=) c.897A>C (p.Val299=) | |
10 | g.87727315A>G | CA470668102 | PAPSS2 | c.912A>G (p.Val304=) c.897A>G (p.Val299=) | |
10 | g.87727315A>T | CA470668103 | PAPSS2 | c.912A>T (p.Val304=) c.897A>T (p.Val299=) | |
10 | g.87727316C>A | CA377489341 | PAPSS2 | c.913C>A (p.Leu305Met) c.898C>A (p.Leu300Met) | |
10 | g.87727316C>G | CA377489342 | PAPSS2 | c.913C>G (p.Leu305Val) c.898C>G (p.Leu300Val) | |
10 | g.87727316C>T | CA470668107 | PAPSS2 | c.913C>T (p.Leu305=) c.898C>T (p.Leu300=) | |
10 | g.87727317T>A | CA377489344 | PAPSS2 | c.914T>A (p.Leu305Gln) c.899T>A (p.Leu300Gln) | |
10 | g.87727317T>C | CA377489345 | PAPSS2 | c.914T>C (p.Leu305Pro) c.899T>C (p.Leu300Pro) | dbSNP |
10 | g.87727317T>G | CA377489343 | PAPSS2 | c.914T>G (p.Leu305Arg) c.899T>G (p.Leu300Arg) | ClinVar dbSNP |
10 | g.87727318G>A | CA470668111 | PAPSS2 | c.915G>A (p.Leu305=) c.900G>A (p.Leu300=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.87727318G>C | CA470668112 | PAPSS2 | c.915G>C (p.Leu305=) c.900G>C (p.Leu300=) | |
10 | g.87727318G= | CA1926080766 | PAPSS2 | c.915G= (p.Leu305=) c.900G= (p.Leu300=) | |
10 | g.87727318G>T | CA470668114 | PAPSS2 | c.915G>T (p.Leu305=) c.900G>T (p.Leu300=) | dbSNP |