Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.84863554del | CA1139667047 | ALPK3 | c.4413del c.5019del n.26del | ClinVar dbSNP |
15 | g.84863554G>A | CA492010222 | ALPK3 | c.4413G>A (p.Gly1471=) c.5019G>A (p.Gly1673=) n.26G>A | |
15 | g.84863554G>C | CA492010223 | ALPK3 | c.4413G>C (p.Gly1471=) c.5019G>C (p.Gly1673=) n.26G>C | |
15 | g.84863554G>T | CA492010226 | ALPK3 | c.4413G>T (p.Gly1471=) c.5019G>T (p.Gly1673=) n.26G>T | |
15 | g.84863555T>A | CA393363614 | ALPK3 | c.4414T>A (p.Cys1472Ser) c.5020T>A (p.Cys1674Ser) n.27T>A | |
15 | g.84863555T>C | CA393363612 | ALPK3 | c.4414T>C (p.Cys1472Arg) c.5020T>C (p.Cys1674Arg) n.27T>C | |
15 | g.84863555T>G | CA393363610 | ALPK3 | c.4414T>G (p.Cys1472Gly) c.5020T>G (p.Cys1674Gly) n.27T>G | |
15 | g.84863556G>A | CA393363616 | ALPK3 | c.4415G>A (p.Cys1472Tyr) c.5021G>A (p.Cys1674Tyr) n.28G>A | |
15 | g.84863556G>C | CA393363617 | ALPK3 | c.4415G>C (p.Cys1472Ser) c.5021G>C (p.Cys1674Ser) n.28G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84863556G= | CA2192381363 | ALPK3 | c.4415G= (p.Cys1472=) c.5021G= (p.Cys1674=) n.28G= | |
15 | g.84863556G>T | CA393363619 | ALPK3 | c.4415G>T (p.Cys1472Phe) c.5021G>T (p.Cys1674Phe) n.28G>T | |
15 | g.84863557C>A | CA393363621 | ALPK3 | c.4416C>A (p.Cys1472Ter) c.5022C>A (p.Cys1674Ter) n.29C>A | |
15 | g.84863557C>G | CA393363623 | ALPK3 | c.4416C>G (p.Cys1472Trp) c.5022C>G (p.Cys1674Trp) n.29C>G | |
15 | g.84863557C>T | CA492010240 | ALPK3 | c.4416C>T (p.Cys1472=) c.5022C>T (p.Cys1674=) n.29C>T | |
15 | g.84863558A>C | CA393363625 | ALPK3 | c.4417A>C (p.Lys1473Gln) c.5023A>C (p.Lys1675Gln) n.30A>C | |
15 | g.84863558A>G | CA393363627 | ALPK3 | c.4417A>G (p.Lys1473Glu) c.5023A>G (p.Lys1675Glu) n.30A>G | |
15 | g.84863558A>T | CA393363628 | ALPK3 | c.4417A>T (p.Lys1473Ter) c.5023A>T (p.Lys1675Ter) n.30A>T | |
15 | g.84863559A>C | CA393363631 | ALPK3 | c.4418A>C (p.Lys1473Thr) c.5024A>C (p.Lys1675Thr) n.31A>C | |
15 | g.84863559A>G | CA393363633 | ALPK3 | c.4418A>G (p.Lys1473Arg) c.5024A>G (p.Lys1675Arg) n.31A>G | gnomAD v4 |
15 | g.84863559A>T | CA393363634 | ALPK3 | c.4418A>T (p.Lys1473Met) c.5024A>T (p.Lys1675Met) n.31A>T | |
15 | g.84863560G>A | CA492010252 | ALPK3 | c.4419G>A (p.Lys1473=) c.5025G>A (p.Lys1675=) n.32G>A | |
15 | g.84863560G>C | CA393363636 | ALPK3 | c.4419G>C (p.Lys1473Asn) c.5025G>C (p.Lys1675Asn) n.32G>C | |
15 | g.84863560G>T | CA393363638 | ALPK3 | c.4419G>T (p.Lys1473Asn) c.5025G>T (p.Lys1675Asn) n.32G>T | |
15 | g.84863561A>C | CA393363644 | ALPK3 | c.4420A>C (p.Ile1474Leu) c.5026A>C (p.Ile1676Leu) n.33A>C | |
15 | g.84863561A>G | CA393363640 | ALPK3 | c.4420A>G (p.Ile1474Val) c.5026A>G (p.Ile1676Val) n.33A>G | gnomAD v4 |
15 | g.84863561A>T | CA393363642 | ALPK3 | c.4420A>T (p.Ile1474Phe) c.5026A>T (p.Ile1676Phe) n.33A>T | |
15 | g.84863562T>A | CA393363646 | ALPK3 | c.4421T>A (p.Ile1474Asn) c.5027T>A (p.Ile1676Asn) n.34T>A | |
15 | g.84863562T>C | CA393363648 | ALPK3 | c.4421T>C (p.Ile1474Thr) c.5027T>C (p.Ile1676Thr) n.34T>C | |
15 | g.84863562T>G | CA393363650 | ALPK3 | c.4421T>G (p.Ile1474Ser) c.5027T>G (p.Ile1676Ser) n.34T>G | |
15 | g.84863563C>A | CA492010268 | ALPK3 | c.4422C>A (p.Ile1474=) c.5028C>A (p.Ile1676=) n.35C>A | |
15 | g.84863563C= | CA2192381377 | ALPK3 | c.4422C= (p.Ile1474=) c.5028C= (p.Ile1676=) n.35C= | |
15 | g.84863563C>G | CA7709965 | ALPK3 | c.4422C>G (p.Ile1474Met) c.5028C>G (p.Ile1676Met) n.35C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863563C>T | CA492010266 | ALPK3 | c.4422C>T (p.Ile1474=) c.5028C>T (p.Ile1676=) n.35C>T | |
15 | g.84863564dup | CA2630115390 | ALPK3 | c.4423dup (p.Gln1475ProfsTer26) c.5029dup (p.Gln1677ProfsTer26) n.36dup | gnomAD v4 |
15 | g.84863564C>A | CA393363652 | ALPK3 | c.4423C>A (p.Gln1475Lys) c.5029C>A (p.Gln1677Lys) n.36C>A | |
15 | g.84863564C>G | CA393363653 | ALPK3 | c.4423C>G (p.Gln1475Glu) c.5029C>G (p.Gln1677Glu) n.36C>G | gnomAD v4 |
15 | g.84863564C>T | CA393363655 | ALPK3 | c.4423C>T (p.Gln1475Ter) c.5029C>T (p.Gln1677Ter) n.36C>T | gnomAD v4 |
15 | g.84863565A>C | CA393363657 | ALPK3 | c.4424A>C (p.Gln1475Pro) c.5030A>C (p.Gln1677Pro) n.37A>C | |
15 | g.84863565A>G | CA393363659 | ALPK3 | c.4424A>G (p.Gln1475Arg) c.5030A>G (p.Gln1677Arg) n.37A>G | |
15 | g.84863565A>T | CA393363661 | ALPK3 | c.4424A>T (p.Gln1475Leu) c.5030A>T (p.Gln1677Leu) n.37A>T | |
15 | g.84863566G>A | CA492010278 | ALPK3 | c.4425G>A (p.Gln1475=) c.5031G>A (p.Gln1677=) n.38G>A | dbSNP |
15 | g.84863566G>C | CA393363663 | ALPK3 | c.4425G>C (p.Gln1475His) c.5031G>C (p.Gln1677His) n.38G>C | |
15 | g.84863566G= | CA2192381381 | ALPK3 | c.4425G= (p.Gln1475=) c.5031G= (p.Gln1677=) n.38G= | |
15 | g.84863566G>T | CA393363665 | ALPK3 | c.4425G>T (p.Gln1475His) c.5031G>T (p.Gln1677His) n.38G>T | gnomAD v4 |
15 | g.84863567A= | CA2192381385 | ALPK3 | c.4426A= (p.Asn1476=) c.5032A= (p.Asn1678=) n.39A= | |
15 | g.84863567A>C | CA393363671 | ALPK3 | c.4426A>C (p.Asn1476His) c.5032A>C (p.Asn1678His) n.39A>C | |
15 | g.84863567A>G | CA393363669 | ALPK3 | c.4426A>G (p.Asn1476Asp) c.5032A>G (p.Asn1678Asp) n.39A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84863567A>T | CA393363667 | ALPK3 | c.4426A>T (p.Asn1476Tyr) c.5032A>T (p.Asn1678Tyr) n.39A>T | |
15 | g.84863568A>C | CA393363673 | ALPK3 | c.4427A>C (p.Asn1476Thr) c.5033A>C (p.Asn1678Thr) n.40A>C | |
15 | g.84863568A>G | CA393363675 | ALPK3 | c.4427A>G (p.Asn1476Ser) c.5033A>G (p.Asn1678Ser) n.40A>G | ClinVar |
15 | g.84863568A>T | CA393363674 | ALPK3 | c.4427A>T (p.Asn1476Ile) c.5033A>T (p.Asn1678Ile) n.40A>T | |
15 | g.84863569C>A | CA393363677 | ALPK3 | c.4428C>A (p.Asn1476Lys) c.5034C>A (p.Asn1678Lys) n.41C>A | |
15 | g.84863569C= | CA2192381390 | ALPK3 | c.4428C= (p.Asn1476=) c.5034C= (p.Asn1678=) n.41C= | |
15 | g.84863569C>G | CA393363680 | ALPK3 | c.4428C>G (p.Asn1476Lys) c.5034C>G (p.Asn1678Lys) n.41C>G | |
15 | g.84863569C>T | CA7709966 | ALPK3 | c.4428C>T (p.Asn1476=) c.5034C>T (p.Asn1678=) n.41C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863570A= | CA2192381393 | ALPK3 | c.4429A= (p.Met1477=) c.5035A= (p.Met1679=) n.42A= | |
15 | g.84863570A>C | CA393363682 | ALPK3 | c.4429A>C (p.Met1477Leu) c.5035A>C (p.Met1679Leu) n.42A>C | |
15 | g.84863570A>G | CA7709967 | ALPK3 | c.4429A>G (p.Met1477Val) c.5035A>G (p.Met1679Val) n.42A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863570A>T | CA393363685 | ALPK3 | c.4429A>T (p.Met1477Leu) c.5035A>T (p.Met1679Leu) n.42A>T | gnomAD v4 |
15 | g.84863571T>A | CA393363688 | ALPK3 | c.4430T>A (p.Met1477Lys) c.5036T>A (p.Met1679Lys) n.43T>A | |
15 | g.84863571T>C | CA393363692 | ALPK3 | c.4430T>C (p.Met1477Thr) c.5036T>C (p.Met1679Thr) n.43T>C | ClinVar gnomAD v4 |
15 | g.84863571T>G | CA393363690 | ALPK3 | c.4430T>G (p.Met1477Arg) c.5036T>G (p.Met1679Arg) n.43T>G | |
15 | g.84863572G>A | CA393363694 | ALPK3 | c.4431G>A (p.Met1477Ile) c.5037G>A (p.Met1679Ile) n.44G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863572G>C | CA393363698 | ALPK3 | c.4431G>C (p.Met1477Ile) c.5037G>C (p.Met1679Ile) n.44G>C | |
15 | g.84863572G= | CA2192381399 | ALPK3 | c.4431G= (p.Met1477=) c.5037G= (p.Met1679=) n.44G= | |
15 | g.84863572G>T | CA393363696 | ALPK3 | c.4431G>T (p.Met1477Ile) c.5037G>T (p.Met1679Ile) n.44G>T | |
15 | g.84863573A>C | CA393363700 | ALPK3 | c.4432A>C (p.Ser1478Arg) c.5038A>C (p.Ser1680Arg) n.45A>C | |
15 | g.84863573A>G | CA393363703 | ALPK3 | c.4432A>G (p.Ser1478Gly) c.5038A>G (p.Ser1680Gly) n.45A>G | |
15 | g.84863573A>T | CA393363701 | ALPK3 | c.4432A>T (p.Ser1478Cys) c.5038A>T (p.Ser1680Cys) n.45A>T | |
15 | g.84863574del | CA2630115441 | ALPK3 | c.4433del (p.Ser1478IlefsTer29) c.5039del (p.Ser1680IlefsTer29) n.46del | gnomAD v4 |
15 | g.84863574G>A | CA393363705 | ALPK3 | c.4433G>A (p.Ser1478Asn) c.5039G>A (p.Ser1680Asn) n.46G>A | gnomAD v4 |
15 | g.84863574G>C | CA393363707 | ALPK3 | c.4433G>C (p.Ser1478Thr) c.5039G>C (p.Ser1680Thr) n.46G>C | |
15 | g.84863574G>T | CA393363709 | ALPK3 | c.4433G>T (p.Ser1478Ile) c.5039G>T (p.Ser1680Ile) n.46G>T | |
15 | g.84863575T>A | CA393363711 | ALPK3 | c.4434T>A (p.Ser1478Arg) c.5040T>A (p.Ser1680Arg) n.47T>A | |
15 | g.84863575T>C | CA492010319 | ALPK3 | c.4434T>C (p.Ser1478=) c.5040T>C (p.Ser1680=) n.47T>C | gnomAD v4 |
15 | g.84863575T>G | CA393363712 | ALPK3 | c.4434T>G (p.Ser1478Arg) c.5040T>G (p.Ser1680Arg) n.47T>G | |
15 | g.84863576C>A | CA492010326 | ALPK3 | c.4435C>A (p.Arg1479=) c.5041C>A (p.Arg1681=) n.48C>A | |
15 | g.84863576C= | CA2192381406 | ALPK3 | c.4435C= (p.Arg1479=) c.5041C= (p.Arg1681=) n.48C= | |
15 | g.84863576C>G | CA393363714 | ALPK3 | c.4435C>G (p.Arg1479Gly) c.5041C>G (p.Arg1681Gly) n.48C>G | ClinVar |
15 | g.84863576C>T | CA7709968 | ALPK3 | c.4435C>T (p.Arg1479Trp) c.5041C>T (p.Arg1681Trp) n.48C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84863577G>A | CA7709969 | ALPK3 | c.4436G>A (p.Arg1479Gln) c.5042G>A (p.Arg1681Gln) n.49G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84863577G>C | CA393363717 | ALPK3 | c.4436G>C (p.Arg1479Pro) c.5042G>C (p.Arg1681Pro) n.49G>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84863577G= | CA2192381421 | ALPK3 | c.4436G= (p.Arg1479=) c.5042G= (p.Arg1681=) n.49G= | |
15 | g.84863577G>T | CA393363718 | ALPK3 | c.4436G>T (p.Arg1479Leu) c.5042G>T (p.Arg1681Leu) n.49G>T | gnomAD v4 |
15 | g.84863578G>A | CA492010335 | ALPK3 | c.4437G>A (p.Arg1479=) c.5043G>A (p.Arg1681=) n.50G>A | dbSNP COSMIC COSMIC |
15 | g.84863578G>C | CA492010336 | ALPK3 | c.4437G>C (p.Arg1479=) c.5043G>C (p.Arg1681=) n.50G>C | |
15 | g.84863578G= | CA2192381427 | ALPK3 | c.4437G= (p.Arg1479=) c.5043G= (p.Arg1681=) n.50G= | |
15 | g.84863578G>T | CA492010338 | ALPK3 | c.4437G>T (p.Arg1479=) c.5043G>T (p.Arg1681=) n.50G>T | |
15 | g.84863579G>A | CA393363722 | ALPK3 | c.4438G>A (p.Glu1480Lys) c.5044G>A (p.Glu1682Lys) n.51G>A | |
15 | g.84863579G>C | CA393363721 | ALPK3 | c.4438G>C (p.Glu1480Gln) c.5044G>C (p.Glu1682Gln) n.51G>C | |
15 | g.84863579G= | CA2192381430 | ALPK3 | c.4438G= (p.Glu1480=) c.5044G= (p.Glu1682=) n.51G= | |
15 | g.84863579G>T | CA7709970 | ALPK3 | c.4438G>T (p.Glu1480Ter) c.5044G>T (p.Glu1682Ter) n.51G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84863580A>C | CA393363724 | ALPK3 | c.4439A>C (p.Glu1480Ala) c.5045A>C (p.Glu1682Ala) n.52A>C | |
15 | g.84863580A>G | CA393363726 | ALPK3 | c.4439A>G (p.Glu1480Gly) c.5045A>G (p.Glu1682Gly) n.52A>G | |
15 | g.84863580A>T | CA393363728 | ALPK3 | c.4439A>T (p.Glu1480Val) c.5045A>T (p.Glu1682Val) n.52A>T | |
15 | g.84863581G>A | CA492010354 | ALPK3 | c.4440G>A (p.Glu1480=) c.5046G>A (p.Glu1682=) n.53G>A | gnomAD v4 |
15 | g.84863581G>C | CA393363730 | ALPK3 | c.4440G>C (p.Glu1480Asp) c.5046G>C (p.Glu1682Asp) n.53G>C | |
15 | g.84863581G>T | CA393363731 | ALPK3 | c.4440G>T (p.Glu1480Asp) c.5046G>T (p.Glu1682Asp) n.53G>T | |
15 | g.84863582T>A | CA393363733 | ALPK3 | c.4441T>A (p.Tyr1481Asn) c.5047T>A (p.Tyr1683Asn) n.54T>A | |
15 | g.84863582T>C | CA393363735 | ALPK3 | c.4441T>C (p.Tyr1481His) c.5047T>C (p.Tyr1683His) n.54T>C | |
15 | g.84863582T>G | CA393363737 | ALPK3 | c.4441T>G (p.Tyr1481Asp) c.5047T>G (p.Tyr1683Asp) n.54T>G | |
15 | g.84863583A>C | CA393363739 | ALPK3 | c.4442A>C (p.Tyr1481Ser) c.5048A>C (p.Tyr1683Ser) n.55A>C | |
15 | g.84863583A>G | CA393363741 | ALPK3 | c.4442A>G (p.Tyr1481Cys) c.5048A>G (p.Tyr1683Cys) n.55A>G | gnomAD v4 |
15 | g.84863583A>T | CA393363743 | ALPK3 | c.4442A>T (p.Tyr1481Phe) c.5048A>T (p.Tyr1683Phe) n.55A>T | |
15 | g.84863584C>A | CA393363744 | ALPK3 | c.4443C>A (p.Tyr1481Ter) c.5049C>A (p.Tyr1683Ter) n.56C>A | |
15 | g.84863584C>G | CA393363746 | ALPK3 | c.4443C>G (p.Tyr1481Ter) c.5049C>G (p.Tyr1683Ter) n.56C>G | |
15 | g.84863584C>T | CA492010367 | ALPK3 | c.4443C>T (p.Tyr1481=) c.5049C>T (p.Tyr1683=) n.56C>T | |
15 | g.84863585T>A | CA393363748 | ALPK3 | c.4444T>A (p.Cys1482Ser) c.5050T>A (p.Cys1684Ser) n.57T>A | gnomAD v4 |
15 | g.84863585T>C | CA393363749 | ALPK3 | c.4444T>C (p.Cys1482Arg) c.5050T>C (p.Cys1684Arg) n.57T>C | dbSNP gnomAD v4 |
15 | g.84863585T>G | CA393363751 | ALPK3 | c.4444T>G (p.Cys1482Gly) c.5050T>G (p.Cys1684Gly) n.57T>G | |
15 | g.84863585T= | CA2192381433 | ALPK3 | c.4444T= (p.Cys1482=) c.5050T= (p.Cys1684=) n.57T= | |
15 | g.84863586G>A | CA393363753 | ALPK3 | c.4445G>A (p.Cys1482Tyr) c.5051G>A (p.Cys1684Tyr) n.58G>A | gnomAD v4 |
15 | g.84863586G>C | CA393363755 | ALPK3 | c.4445G>C (p.Cys1482Ser) c.5051G>C (p.Cys1684Ser) n.58G>C | |
15 | g.84863586G>T | CA393363757 | ALPK3 | c.4445G>T (p.Cys1482Phe) c.5051G>T (p.Cys1684Phe) n.58G>T | |
15 | g.84863587C>A | CA393363759 | ALPK3 | c.4446C>A (p.Cys1482Ter) c.5052C>A (p.Cys1684Ter) n.59C>A | |
15 | g.84863587C>G | CA393363761 | ALPK3 | c.4446C>G (p.Cys1482Trp) c.5052C>G (p.Cys1684Trp) n.59C>G | |
15 | g.84863587C>T | CA492010385 | ALPK3 | c.4446C>T (p.Cys1482=) c.5052C>T (p.Cys1684=) n.59C>T | gnomAD v4 |
15 | g.84863588A>C | CA393363762 | ALPK3 | c.4447A>C (p.Lys1483Gln) c.5053A>C (p.Lys1685Gln) n.60A>C | |
15 | g.84863588A>G | CA393363764 | ALPK3 | c.4447A>G (p.Lys1483Glu) c.5053A>G (p.Lys1685Glu) n.60A>G | |
15 | g.84863588A>T | CA393363766 | ALPK3 | c.4447A>T (p.Lys1483Ter) c.5053A>T (p.Lys1685Ter) n.60A>T | |
15 | g.84863589A= | CA2192381440 | ALPK3 | c.4448A= (p.Lys1483=) c.5054A= (p.Lys1685=) n.61A= | |
15 | g.84863589A>C | CA393363771 | ALPK3 | c.4448A>C (p.Lys1483Thr) c.5054A>C (p.Lys1685Thr) n.61A>C | |
15 | g.84863589A>G | CA7709971 | ALPK3 | c.4448A>G (p.Lys1483Arg) c.5054A>G (p.Lys1685Arg) n.61A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863589A>T | CA393363768 | ALPK3 | c.4448A>T (p.Lys1483Ile) c.5054A>T (p.Lys1685Ile) n.61A>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.84863590A>C | CA393363773 | ALPK3 | c.4449A>C (p.Lys1483Asn) c.5055A>C (p.Lys1685Asn) n.62A>C | |
15 | g.84863590A>G | CA492010398 | ALPK3 | c.4449A>G (p.Lys1483=) c.5055A>G (p.Lys1685=) n.62A>G | |
15 | g.84863590A>T | CA393363774 | ALPK3 | c.4449A>T (p.Lys1483Asn) c.5055A>T (p.Lys1685Asn) n.62A>T | |
15 | g.84863591A= | CA2192381448 | ALPK3 | c.4450A= (p.Ile1484=) c.5056A= (p.Ile1686=) n.63A= | |
15 | g.84863591A>C | CA393363778 | ALPK3 | c.4450A>C (p.Ile1484Leu) c.5056A>C (p.Ile1686Leu) n.63A>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84863591A>G | CA393363779 | ALPK3 | c.4450A>G (p.Ile1484Val) c.5056A>G (p.Ile1686Val) n.63A>G | |
15 | g.84863591A>T | CA393363781 | ALPK3 | c.4450A>T (p.Ile1484Phe) c.5056A>T (p.Ile1686Phe) n.63A>T | |
15 | g.84863592T>A | CA393363783 | ALPK3 | c.4451T>A (p.Ile1484Asn) c.5057T>A (p.Ile1686Asn) n.64T>A | |
15 | g.84863592T>C | CA393363785 | ALPK3 | c.4451T>C (p.Ile1484Thr) c.5057T>C (p.Ile1686Thr) n.64T>C | |
15 | g.84863592T>G | CA393363787 | ALPK3 | c.4451T>G (p.Ile1484Ser) c.5057T>G (p.Ile1686Ser) n.64T>G | |
15 | g.84863594_84863596del | CA2580090198 | ALPK3 | c.4453_4455del (p.Phe1485del) c.5059_5061del (p.Phe1687del) n.66_68del | ClinVar |
15 | g.84863593C>A | CA492010405 | ALPK3 | c.4452C>A (p.Ile1484=) c.5058C>A (p.Ile1686=) n.65C>A | |
15 | g.84863593C>G | CA393363789 | ALPK3 | c.4452C>G (p.Ile1484Met) c.5058C>G (p.Ile1686Met) n.65C>G | |
15 | g.84863593C>T | CA492010408 | ALPK3 | c.4452C>T (p.Ile1484=) c.5058C>T (p.Ile1686=) n.65C>T | |
15 | g.84863593_84863594delinsCT | CA2192381451 | ALPK3 | c.4452_4453delinsCT (p.Ile1484=) c.5058_5059delinsCT (p.Ile1686=) n.65_66delinsCT | |
15 | g.84863594T>A | CA393363790 | ALPK3 | c.4453T>A (p.Phe1485Ile) c.5059T>A (p.Phe1687Ile) n.66T>A | |
15 | g.84863594T>C | CA273632035 | ALPK3 | c.4453T>C (p.Phe1485Leu) c.5059T>C (p.Phe1687Leu) n.66T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863594T>G | CA393363791 | ALPK3 | c.4453T>G (p.Phe1485Val) c.5059T>G (p.Phe1687Val) n.66T>G | |
15 | g.84863594T= | CA2192381454 | ALPK3 | c.4453T= (p.Phe1485=) c.5059T= (p.Phe1687=) n.66T= | |
15 | g.84863595del | CA716488195 | ALPK3 | c.4454del (p.Phe1485SerfsTer22) c.5060del (p.Phe1687SerfsTer22) n.67del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.84863595T>A | CA393363794 | ALPK3 | c.4454T>A (p.Phe1485Tyr) c.5060T>A (p.Phe1687Tyr) n.67T>A | gnomAD v4 |
15 | g.84863595T>C | CA393363796 | ALPK3 | c.4454T>C (p.Phe1485Ser) c.5060T>C (p.Phe1687Ser) n.67T>C | |
15 | g.84863595T>G | CA393363793 | ALPK3 | c.4454T>G (p.Phe1485Cys) c.5060T>G (p.Phe1687Cys) n.67T>G | |
15 | g.84863596C>A | CA393363800 | ALPK3 | c.4455C>A (p.Phe1485Leu) c.5061C>A (p.Phe1687Leu) n.68C>A | gnomAD v4 |
15 | g.84863596C= | CA2192381460 | ALPK3 | c.4455C= (p.Phe1485=) c.5061C= (p.Phe1687=) n.68C= | |
15 | g.84863596C>G | CA7709972 | ALPK3 | c.4455C>G (p.Phe1485Leu) c.5061C>G (p.Phe1687Leu) n.68C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863596C>T | CA7709973 | ALPK3 | c.4455C>T (p.Phe1485=) c.5061C>T (p.Phe1687=) n.68C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863597G>A | CA7709974 | ALPK3 | c.4456G>A (p.Ala1486Thr) c.5062G>A (p.Ala1688Thr) n.69G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84863597G>C | CA393363803 | ALPK3 | c.4456G>C (p.Ala1486Pro) c.5062G>C (p.Ala1688Pro) n.69G>C | |
15 | g.84863597G= | CA2192381470 | ALPK3 | c.4456G= (p.Ala1486=) c.5062G= (p.Ala1688=) n.69G= | |
15 | g.84863597G>T | CA393363805 | ALPK3 | c.4456G>T (p.Ala1486Ser) c.5062G>T (p.Ala1688Ser) n.69G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.84863598C>A | CA393363806 | ALPK3 | c.4457C>A (p.Ala1486Glu) c.5063C>A (p.Ala1688Glu) n.70C>A | |
15 | g.84863598C>G | CA393363807 | ALPK3 | c.4457C>G (p.Ala1486Gly) c.5063C>G (p.Ala1688Gly) n.70C>G | |
15 | g.84863598C>T | CA393363809 | ALPK3 | c.4457C>T (p.Ala1486Val) c.5063C>T (p.Ala1688Val) n.70C>T | gnomAD v4 |
15 | g.84863599A= | CA2192381474 | ALPK3 | c.4458A= (p.Ala1486=) c.5064A= (p.Ala1688=) n.71A= | |
15 | g.84863599A>C | CA492010445 | ALPK3 | c.4458A>C (p.Ala1486=) c.5064A>C (p.Ala1688=) n.71A>C | |
15 | g.84863599A>G | CA7709975 | ALPK3 | c.4458A>G (p.Ala1486=) c.5064A>G (p.Ala1688=) n.71A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84863599A>T | CA492010441 | ALPK3 | c.4458A>T (p.Ala1486=) c.5064A>T (p.Ala1688=) n.71A>T | |
15 | g.84863600G>A | CA393363813 | ALPK3 | c.4459G>A (p.Ala1487Thr) c.5065G>A (p.Ala1689Thr) n.72G>A | gnomAD v4 |
15 | g.84863600G>C | CA393363815 | ALPK3 | c.4459G>C (p.Ala1487Pro) c.5065G>C (p.Ala1689Pro) n.72G>C | |
15 | g.84863600G>T | CA393363817 | ALPK3 | c.4459G>T (p.Ala1487Ser) c.5065G>T (p.Ala1689Ser) n.72G>T | |
15 | g.84863601C>A | CA393363823 | ALPK3 | c.4460C>A (p.Ala1487Glu) c.5066C>A (p.Ala1689Glu) n.73C>A | |
15 | g.84863601C>G | CA393363821 | ALPK3 | c.4460C>G (p.Ala1487Gly) c.5066C>G (p.Ala1689Gly) n.73C>G | |
15 | g.84863601C>T | CA393363820 | ALPK3 | c.4460C>T (p.Ala1487Val) c.5066C>T (p.Ala1689Val) n.73C>T | |
15 | g.84863601_84863602delinsCA | CA2192381479 | ALPK3 | c.4460_4461delinsCA (p.Ala1487=) c.5066_5067delinsCA (p.Ala1689=) n.73_74delinsCA | |
15 | g.84863602del | CA492010456 | ALPK3 | c.4461del (p.Glu1488LysfsTer19) c.5067del (p.Glu1690LysfsTer19) n.74del | ClinVar dbSNP gnomAD v4 |
15 | g.84863602A>C | CA492010452 | ALPK3 | c.4461A>C (p.Ala1487=) c.5067A>C (p.Ala1689=) n.74A>C | |
15 | g.84863602A>G | CA492010453 | ALPK3 | c.4461A>G (p.Ala1487=) c.5067A>G (p.Ala1689=) n.74A>G | |
15 | g.84863602A>T | CA492010455 | ALPK3 | c.4461A>T (p.Ala1487=) c.5067A>T (p.Ala1689=) n.74A>T | COSMIC COSMIC |
15 | g.84863603del | CA393363830 | ALPK3 | c.4462del (p.Glu1488LysfsTer19) c.5068del (p.Glu1690LysfsTer19) n.75del | |
15 | g.84863603G>A | CA393363825 | ALPK3 | c.4462G>A (p.Glu1488Lys) c.5068G>A (p.Glu1690Lys) n.75G>A | ClinVar |
15 | g.84863603G>C | CA393363828 | ALPK3 | c.4462G>C (p.Glu1488Gln) c.5068G>C (p.Glu1690Gln) n.75G>C | |
15 | g.84863603G>T | CA393363829 | ALPK3 | c.4462G>T (p.Glu1488Ter) c.5068G>T (p.Glu1690Ter) n.75G>T | |
15 | g.84863604A>C | CA393363833 | ALPK3 | c.4463A>C (p.Glu1488Ala) c.5069A>C (p.Glu1690Ala) n.76A>C | |
15 | g.84863604A>G | CA393363834 | ALPK3 | c.4463A>G (p.Glu1488Gly) c.5069A>G (p.Glu1690Gly) n.76A>G | |
15 | g.84863604A>T | CA393363835 | ALPK3 | c.4463A>T (p.Glu1488Val) c.5069A>T (p.Glu1690Val) n.76A>T | |
15 | g.84863605A>C | CA393363836 | ALPK3 | c.4464A>C (p.Glu1488Asp) c.5070A>C (p.Glu1690Asp) n.77A>C | |
15 | g.84863605A>G | CA492010465 | ALPK3 | c.4464A>G (p.Glu1488=) c.5070A>G (p.Glu1690=) n.77A>G | |
15 | g.84863605A>T | CA393363838 | ALPK3 | c.4464A>T (p.Glu1488Asp) c.5070A>T (p.Glu1690Asp) n.77A>T | |
15 | g.84863606G>A | CA393363840 | ALPK3 | c.4465G>A (p.Ala1489Thr) c.5071G>A (p.Ala1691Thr) n.78G>A | |
15 | g.84863606G>C | CA393363841 | ALPK3 | c.4465G>C (p.Ala1489Pro) c.5071G>C (p.Ala1691Pro) n.78G>C | |
15 | g.84863606G= | CA2192381484 | ALPK3 | c.4465G= (p.Ala1489=) c.5071G= (p.Ala1691=) n.78G= | |
15 | g.84863606G>T | CA393363842 | ALPK3 | c.4465G>T (p.Ala1489Ser) c.5071G>T (p.Ala1691Ser) n.78G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863607C>A | CA393363847 | ALPK3 | c.4466C>A (p.Ala1489Asp) c.5072C>A (p.Ala1691Asp) n.79C>A | |
15 | g.84863607C= | CA2192381488 | ALPK3 | c.4466C= (p.Ala1489=) c.5072C= (p.Ala1691=) n.79C= | |
15 | g.84863607C>G | CA393363845 | ALPK3 | c.4466C>G (p.Ala1489Gly) c.5072C>G (p.Ala1691Gly) n.79C>G | |
15 | g.84863607C>T | CA273632095 | ALPK3 | c.4466C>T (p.Ala1489Val) c.5072C>T (p.Ala1691Val) n.79C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84863609dup | CA273632093 | ALPK3 | c.4468dup (p.Arg1490ProfsTer11) c.5074dup (p.Arg1692ProfsTer11) n.81dup | dbSNP |
15 | g.84863608C>A | CA492010481 | ALPK3 | c.4467C>A (p.Ala1489=) c.5073C>A (p.Ala1691=) n.80C>A | |
15 | g.84863608C>G | CA492010482 | ALPK3 | c.4467C>G (p.Ala1489=) c.5073C>G (p.Ala1691=) n.80C>G | |
15 | g.84863608C>T | CA492010483 | ALPK3 | c.4467C>T (p.Ala1489=) c.5073C>T (p.Ala1691=) n.80C>T | |
15 | g.84863609C>A | CA492010486 | ALPK3 | c.4468C>A (p.Arg1490=) c.5074C>A (p.Arg1692=) n.81C>A | |
15 | g.84863609C= | CA2192381493 | ALPK3 | c.4468C= (p.Arg1490=) c.5074C= (p.Arg1692=) n.81C= | |
15 | g.84863609C>G | CA393363849 | ALPK3 | c.4468C>G (p.Arg1490Gly) c.5074C>G (p.Arg1692Gly) n.81C>G | gnomAD v4 |
15 | g.84863609C>T | CA7709976 | ALPK3 | c.4468C>T (p.Arg1490Trp) c.5074C>T (p.Arg1692Trp) n.81C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863610G>A | CA7709977 | ALPK3 | c.4469G>A (p.Arg1490Gln) c.5075G>A (p.Arg1692Gln) n.82G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863610G>C | CA393363853 | ALPK3 | c.4469G>C (p.Arg1490Pro) c.5075G>C (p.Arg1692Pro) n.82G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84863610G= | CA2192381499 | ALPK3 | c.4469G= (p.Arg1490=) c.5075G= (p.Arg1692=) n.82G= | |
15 | g.84863610G>T | CA393363855 | ALPK3 | c.4469G>T (p.Arg1490Leu) c.5075G>T (p.Arg1692Leu) n.82G>T | COSMIC COSMIC |
15 | g.84863612del | CA2630115517 | ALPK3 | c.4471del (p.Ala1491ProfsTer16) c.5077del (p.Ala1693ProfsTer16) n.84del | gnomAD v4 |
15 | g.84863611G>A | CA492010504 | ALPK3 | c.4470G>A (p.Arg1490=) c.5076G>A (p.Arg1692=) n.83G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863611G>C | CA7709978 | ALPK3 | c.4470G>C (p.Arg1490=) c.5076G>C (p.Arg1692=) n.83G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863611G= | CA2192381509 | ALPK3 | c.4470G= (p.Arg1490=) c.5076G= (p.Arg1692=) n.83G= | |
15 | g.84863611G>T | CA492010507 | ALPK3 | c.4470G>T (p.Arg1490=) c.5076G>T (p.Arg1692=) n.83G>T | gnomAD v4 |
15 | g.84863612G>A | CA393363862 | ALPK3 | c.4471G>A (p.Ala1491Thr) c.5077G>A (p.Ala1693Thr) n.84G>A | |
15 | g.84863612G>C | CA393363858 | ALPK3 | c.4471G>C (p.Ala1491Pro) c.5077G>C (p.Ala1693Pro) n.84G>C | |
15 | g.84863612G>T | CA393363860 | ALPK3 | c.4471G>T (p.Ala1491Ser) c.5077G>T (p.Ala1693Ser) n.84G>T | |
15 | g.84863613C>A | CA393363863 | ALPK3 | c.4472C>A (p.Ala1491Asp) c.5078C>A (p.Ala1693Asp) n.85C>A | |
15 | g.84863613C>G | CA393363864 | ALPK3 | c.4472C>G (p.Ala1491Gly) c.5078C>G (p.Ala1693Gly) n.85C>G | |
15 | g.84863613C>T | CA393363866 | ALPK3 | c.4472C>T (p.Ala1491Val) c.5078C>T (p.Ala1693Val) n.85C>T | |
15 | g.84863614C>A | CA7709980 | ALPK3 | c.4473C>A (p.Ala1491=) c.5079C>A (p.Ala1693=) n.86C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863614C= | CA2192381519 | ALPK3 | c.4473C= (p.Ala1491=) c.5079C= (p.Ala1693=) n.86C= | |
15 | g.84863614C>G | CA492010512 | ALPK3 | c.4473C>G (p.Ala1491=) c.5079C>G (p.Ala1693=) n.86C>G | dbSNP gnomAD v4 |
15 | g.84863614C>T | CA7709979 | ALPK3 | c.4473C>T (p.Ala1491=) c.5079C>T (p.Ala1693=) n.86C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84863615G>A | CA7709981 | ALPK3 | c.4474G>A (p.Ala1492Thr) c.5080G>A (p.Ala1694Thr) n.87G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863615G>C | CA393363871 | ALPK3 | c.4474G>C (p.Ala1492Pro) c.5080G>C (p.Ala1694Pro) n.87G>C | |
15 | g.84863615G= | CA2192381528 | ALPK3 | c.4474G= (p.Ala1492=) c.5080G= (p.Ala1694=) n.87G= | |
15 | g.84863615G>T | CA393363869 | ALPK3 | c.4474G>T (p.Ala1492Ser) c.5080G>T (p.Ala1694Ser) n.87G>T | gnomAD v4 |
15 | g.84863616C>A | CA393363873 | ALPK3 | c.4475C>A (p.Ala1492Glu) c.5081C>A (p.Ala1694Glu) n.88C>A | |
15 | g.84863616C= | CA2192381533 | ALPK3 | c.4475C= (p.Ala1492=) c.5081C= (p.Ala1694=) n.88C= | |
15 | g.84863616C>G | CA393363874 | ALPK3 | c.4475C>G (p.Ala1492Gly) c.5081C>G (p.Ala1694Gly) n.88C>G | |
15 | g.84863616C>T | CA273632129 | ALPK3 | c.4475C>T (p.Ala1492Val) c.5081C>T (p.Ala1694Val) n.88C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863617G>A | CA7709982 | ALPK3 | c.4476G>A (p.Ala1492=) c.5082G>A (p.Ala1694=) n.89G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84863617G>C | CA492010533 | ALPK3 | c.4476G>C (p.Ala1492=) c.5082G>C (p.Ala1694=) n.89G>C | |
15 | g.84863617G= | CA2192381539 | ALPK3 | c.4476G= (p.Ala1492=) c.5082G= (p.Ala1694=) n.89G= | |
15 | g.84863617G>T | CA492010536 | ALPK3 | c.4476G>T (p.Ala1492=) c.5082G>T (p.Ala1694=) n.89G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84863618C>A | CA393363877 | ALPK3 | c.4477C>A (p.Pro1493Thr) c.5083C>A (p.Pro1695Thr) n.90C>A | |
15 | g.84863618C= | CA2192381548 | ALPK3 | c.4477C= (p.Pro1493=) c.5083C= (p.Pro1695=) n.90C= | |
15 | g.84863618C>G | CA393363878 | ALPK3 | c.4477C>G (p.Pro1493Ala) c.5083C>G (p.Pro1695Ala) n.90C>G | |
15 | g.84863618C>T | CA393363879 | ALPK3 | c.4477C>T (p.Pro1493Ser) c.5083C>T (p.Pro1695Ser) n.90C>T | dbSNP gnomAD v4 |
15 | g.84863619C>A | CA393363881 | ALPK3 | c.4478C>A (p.Pro1493His) c.5084C>A (p.Pro1695His) n.91C>A | |
15 | g.84863619C>G | CA393363883 | ALPK3 | c.4478C>G (p.Pro1493Arg) c.5084C>G (p.Pro1695Arg) n.91C>G | |
15 | g.84863619C>T | CA393363885 | ALPK3 | c.4478C>T (p.Pro1493Leu) c.5084C>T (p.Pro1695Leu) n.91C>T | |
15 | g.84863620T>A | CA492010546 | ALPK3 | c.4479T>A (p.Pro1493=) c.5085T>A (p.Pro1695=) n.92T>A | |
15 | g.84863620T>C | CA492010552 | ALPK3 | c.4479T>C (p.Pro1493=) c.5085T>C (p.Pro1695=) n.92T>C | |
15 | g.84863620T>G | CA492010549 | ALPK3 | c.4479T>G (p.Pro1493=) c.5085T>G (p.Pro1695=) n.92T>G | |
15 | g.84863621G>A | CA393363890 | ALPK3 | c.4480G>A (p.Gly1494Ser) c.5086G>A (p.Gly1696Ser) n.93G>A | |
15 | g.84863621G>C | CA393363888 | ALPK3 | c.4480G>C (p.Gly1494Arg) c.5086G>C (p.Gly1696Arg) n.93G>C | |
15 | g.84863621G>T | CA393363886 | ALPK3 | c.4480G>T (p.Gly1494Cys) c.5086G>T (p.Gly1696Cys) n.93G>T | |
15 | g.84863622G>A | CA393363892 | ALPK3 | c.4481G>A (p.Gly1494Asp) c.5087G>A (p.Gly1696Asp) n.94G>A | |
15 | g.84863622G>C | CA393363895 | ALPK3 | c.4481G>C (p.Gly1494Ala) c.5087G>C (p.Gly1696Ala) n.94G>C | |
15 | g.84863622G= | CA2192381558 | ALPK3 | c.4481G= (p.Gly1494=) c.5087G= (p.Gly1696=) n.94G= | |
15 | g.84863622G>T | CA7709983 | ALPK3 | c.4481G>T (p.Gly1494Val) c.5087G>T (p.Gly1696Val) n.94G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84863623C>A | CA492010561 | ALPK3 | c.4482C>A (p.Gly1494=) c.5088C>A (p.Gly1696=) n.95C>A | |
15 | g.84863623C= | CA2192381561 | ALPK3 | c.4482C= (p.Gly1494=) c.5088C= (p.Gly1696=) n.95C= | |
15 | g.84863623C>G | CA492010562 | ALPK3 | c.4482C>G (p.Gly1494=) c.5088C>G (p.Gly1696=) n.95C>G | |
15 | g.84863623C>T | CA492010565 | ALPK3 | c.4482C>T (p.Gly1494=) c.5088C>T (p.Gly1696=) n.95C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.84863624T>A | CA393363897 | ALPK3 | c.4483T>A (p.Phe1495Ile) c.5089T>A (p.Phe1697Ile) n.96T>A | |
15 | g.84863624T>C | CA393363898 | ALPK3 | c.4483T>C (p.Phe1495Leu) c.5089T>C (p.Phe1697Leu) n.96T>C | |
15 | g.84863624T>G | CA393363899 | ALPK3 | c.4483T>G (p.Phe1495Val) c.5089T>G (p.Phe1697Val) n.96T>G | |
15 | g.84863625T>A | CA393363902 | ALPK3 | c.4484T>A (p.Phe1495Tyr) c.5090T>A (p.Phe1697Tyr) n.97T>A | dbSNP |
15 | g.84863625T>C | CA393363903 | ALPK3 | c.4484T>C (p.Phe1495Ser) c.5090T>C (p.Phe1697Ser) n.97T>C | |
15 | g.84863625T>G | CA393363904 | ALPK3 | c.4484T>G (p.Phe1495Cys) c.5090T>G (p.Phe1697Cys) n.97T>G | |
15 | g.84863625T= | CA2192381562 | ALPK3 | c.4484T= (p.Phe1495=) c.5090T= (p.Phe1697=) n.97T= | |
15 | g.84863626T>A | CA393363908 | ALPK3 | c.4485T>A (p.Phe1495Leu) c.5091T>A (p.Phe1697Leu) n.98T>A | |
15 | g.84863626T>C | CA492010576 | ALPK3 | c.4485T>C (p.Phe1495=) c.5091T>C (p.Phe1697=) n.98T>C | dbSNP |
15 | g.84863626T>G | CA393363906 | ALPK3 | c.4485T>G (p.Phe1495Leu) c.5091T>G (p.Phe1697Leu) n.98T>G | |
15 | g.84863626T= | CA2192381564 | ALPK3 | c.4485T= (p.Phe1495=) c.5091T= (p.Phe1697=) n.98T= | |
15 | g.84863627G>A | CA393363910 | ALPK3 | c.4486G>A (p.Gly1496Arg) c.5092G>A (p.Gly1698Arg) n.99G>A | |
15 | g.84863627G>C | CA393363912 | ALPK3 | c.4486G>C (p.Gly1496Arg) c.5092G>C (p.Gly1698Arg) n.99G>C | |
15 | g.84863627G= | CA2192381567 | ALPK3 | c.4486G= (p.Gly1496=) c.5092G= (p.Gly1698=) n.99G= | |
15 | g.84863627G>T | CA7709984 | ALPK3 | c.4486G>T (p.Gly1496Trp) c.5092G>T (p.Gly1698Trp) n.99G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863628G>A | CA393363916 | ALPK3 | c.4487G>A (p.Gly1496Glu) c.5093G>A (p.Gly1698Glu) n.100G>A | |
15 | g.84863628G>C | CA393363918 | ALPK3 | c.4487G>C (p.Gly1496Ala) c.5093G>C (p.Gly1698Ala) n.100G>C | |
15 | g.84863628G>T | CA393363920 | ALPK3 | c.4487G>T (p.Gly1496Val) c.5093G>T (p.Gly1698Val) n.100G>T | |
15 | g.84863629G>A | CA492010589 | ALPK3 | c.4488G>A (p.Gly1496=) c.5094G>A (p.Gly1698=) n.101G>A | |
15 | g.84863629G>C | CA492010591 | ALPK3 | c.4488G>C (p.Gly1496=) c.5094G>C (p.Gly1698=) n.101G>C | gnomAD v4 |
15 | g.84863629G>T | CA492010588 | ALPK3 | c.4488G>T (p.Gly1496=) c.5094G>T (p.Gly1698=) n.101G>T | |
15 | g.84863630G>A | CA7709985 | ALPK3 | c.4489G>A (p.Glu1497Lys) c.5095G>A (p.Glu1699Lys) n.102G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
15 | g.84863630G>C | CA393363922 | ALPK3 | c.4489G>C (p.Glu1497Gln) c.5095G>C (p.Glu1699Gln) n.102G>C | |
15 | g.84863630G= | CA2192381570 | ALPK3 | c.4489G= (p.Glu1497=) c.5095G= (p.Glu1699=) n.102G= | |
15 | g.84863630G>T | CA393363924 | ALPK3 | c.4489G>T (p.Glu1497Ter) c.5095G>T (p.Glu1699Ter) n.102G>T | |
15 | g.84863631A>C | CA393363927 | ALPK3 | c.4490A>C (p.Glu1497Ala) c.5096A>C (p.Glu1699Ala) n.103A>C | |
15 | g.84863631A>G | CA393363929 | ALPK3 | c.4490A>G (p.Glu1497Gly) c.5096A>G (p.Glu1699Gly) n.103A>G | |
15 | g.84863631A>T | CA393363931 | ALPK3 | c.4490A>T (p.Glu1497Val) c.5096A>T (p.Glu1699Val) n.103A>T | |
15 | g.84863632G>A | CA7709986 | ALPK3 | c.4491G>A (p.Glu1497=) c.5097G>A (p.Glu1699=) n.104G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84863632G>C | CA393363934 | ALPK3 | c.4491G>C (p.Glu1497Asp) c.5097G>C (p.Glu1699Asp) n.104G>C | |
15 | g.84863632G= | CA2192381574 | ALPK3 | c.4491G= (p.Glu1497=) c.5097G= (p.Glu1699=) n.104G= | |
15 | g.84863632G>T | CA393363936 | ALPK3 | c.4491G>T (p.Glu1497Asp) c.5097G>T (p.Glu1699Asp) n.104G>T | |
15 | g.84863633del | CA2805045364 | ALPK3 | c.4492del (p.Val1498CysfsTer9) c.5098del (p.Val1700CysfsTer9) n.105del | |
15 | g.84863633G>A | CA393363938 | ALPK3 | c.4492G>A (p.Val1498Met) c.5098G>A (p.Val1700Met) n.105G>A | |
15 | g.84863633G>C | CA393363939 | ALPK3 | c.4492G>C (p.Val1498Leu) c.5098G>C (p.Val1700Leu) n.105G>C | |
15 | g.84863633G>T | CA393363940 | ALPK3 | c.4492G>T (p.Val1498Leu) c.5098G>T (p.Val1700Leu) n.105G>T | |
15 | g.84863634T>A | CA393363942 | ALPK3 | c.4493T>A (p.Val1498Glu) c.5099T>A (p.Val1700Glu) n.106T>A | |
15 | g.84863634T>C | CA393363944 | ALPK3 | c.4493T>C (p.Val1498Ala) c.5099T>C (p.Val1700Ala) n.106T>C | |
15 | g.84863634T>G | CA393363946 | ALPK3 | c.4493T>G (p.Val1498Gly) c.5099T>G (p.Val1700Gly) n.106T>G | |
15 | g.84863634dup | CA2573151214 | ALPK3 | c.4493dup (p.Pro1499AlafsTer2) c.5099dup (p.Pro1701AlafsTer2) n.106dup | ClinVar dbSNP |
15 | g.84863635G>A | CA492010597 | ALPK3 | c.4494G>A (p.Val1498=) c.5100G>A (p.Val1700=) n.107G>A | dbSNP |
15 | g.84863635G>C | CA492010598 | ALPK3 | c.4494G>C (p.Val1498=) c.5100G>C (p.Val1700=) n.107G>C | |
15 | g.84863635G= | CA2192381575 | ALPK3 | c.4494G= (p.Val1498=) c.5100G= (p.Val1700=) n.107G= | |
15 | g.84863635G>T | CA492010599 | ALPK3 | c.4494G>T (p.Val1498=) c.5100G>T (p.Val1700=) n.107G>T | |
15 | g.84863636C>A | CA393363947 | ALPK3 | c.4495C>A (p.Pro1499Thr) c.5101C>A (p.Pro1701Thr) n.108C>A | gnomAD v4 |
15 | g.84863636C>G | CA393363951 | ALPK3 | c.4495C>G (p.Pro1499Ala) c.5101C>G (p.Pro1701Ala) n.108C>G | |
15 | g.84863636C>T | CA393363949 | ALPK3 | c.4495C>T (p.Pro1499Ser) c.5101C>T (p.Pro1701Ser) n.108C>T | |
15 | g.84863637C>A | CA393363953 | ALPK3 | c.4496C>A (p.Pro1499His) c.5102C>A (p.Pro1701His) n.109C>A | |
15 | g.84863637C= | CA2192381577 | ALPK3 | c.4496C= (p.Pro1499=) c.5102C= (p.Pro1701=) n.109C= | |
15 | g.84863637C>G | CA393363955 | ALPK3 | c.4496C>G (p.Pro1499Arg) c.5102C>G (p.Pro1701Arg) n.109C>G | |
15 | g.84863637C>T | CA7709987 | ALPK3 | c.4496C>T (p.Pro1499Leu) c.5102C>T (p.Pro1701Leu) n.109C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863638T>A | CA492010602 | ALPK3 | c.4497T>A (p.Pro1499=) c.5103T>A (p.Pro1701=) n.110T>A | ClinVar |
15 | g.84863638T>C | CA492010603 | ALPK3 | c.4497T>C (p.Pro1499=) c.5103T>C (p.Pro1701=) n.110T>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.84863638T>G | CA492010604 | ALPK3 | c.4497T>G (p.Pro1499=) c.5103T>G (p.Pro1701=) n.110T>G | |
15 | g.84863638T= | CA2192381581 | ALPK3 | c.4497T= (p.Pro1499=) c.5103T= (p.Pro1701=) n.110T= | |
15 | g.84863639G>A | CA393363958 | ALPK3 | c.4498G>A (p.Glu1500Lys) c.5104G>A (p.Glu1702Lys) n.111G>A | |
15 | g.84863639G>C | CA393363960 | ALPK3 | c.4498G>C (p.Glu1500Gln) c.5104G>C (p.Glu1702Gln) n.111G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863639G= | CA2192381583 | ALPK3 | c.4498G= (p.Glu1500=) c.5104G= (p.Glu1702=) n.111G= | |
15 | g.84863639G>T | CA393363962 | ALPK3 | c.4498G>T (p.Glu1500Ter) c.5104G>T (p.Glu1702Ter) n.111G>T | |
15 | g.84863640A>C | CA393363965 | ALPK3 | c.4499A>C (p.Glu1500Ala) c.5105A>C (p.Glu1702Ala) n.112A>C | |
15 | g.84863640A>G | CA393363967 | ALPK3 | c.4499A>G (p.Glu1500Gly) c.5105A>G (p.Glu1702Gly) n.112A>G | |
15 | g.84863640A>T | CA393363968 | ALPK3 | c.4499A>T (p.Glu1500Val) c.5105A>T (p.Glu1702Val) n.112A>T | |
15 | g.84863641G>A | CA393363970 | ALPK3 | c.4499+1G>A (n.4499+1G>A) c.5105+1G>A (n.5105+1G>A) n.112+1G>A | ClinVar |
15 | g.84863641G>C | CA393363972 | ALPK3 | c.4499+1G>C (n.4499+1G>C) c.5105+1G>C (n.5105+1G>C) n.112+1G>C | |
15 | g.84863641G= | CA2192381587 | ALPK3 | c.4499+1G= (n.4499+1G=) c.5105+1G= (n.5105+1G=) n.112+1G= | |
15 | g.84863641G>T | CA393363973 | ALPK3 | c.4499+1G>T (n.4499+1G>T) c.5105+1G>T (n.5105+1G>T) n.112+1G>T | |
15 | g.84863642T>A | CA393363976 | ALPK3 | c.4499+2T>A (n.4499+2T>A) c.5105+2T>A (n.5105+2T>A) n.112+2T>A | |
15 | g.84863642T>C | CA393363980 | ALPK3 | c.4499+2T>C (n.4499+2T>C) c.5105+2T>C (n.5105+2T>C) n.112+2T>C | |
15 | g.84863642T>G | CA393363978 | ALPK3 | c.4499+2T>G (n.4499+2T>G) c.5105+2T>G (n.5105+2T>G) n.112+2T>G | |
15 | g.84863642dup | CA7709988 | ALPK3 | c.4499+2dup (n.4499+2dup) c.5105+2dup (n.5105+2dup) n.112+2dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863643A= | CA2192381601 | ALPK3 | c.4499+3A= (n.4499+3A=) c.5105+3A= (n.5105+3A=) n.112+3A= | |
15 | g.84863643A>G | CA619447479 | ALPK3 | c.4499+3A>G (n.4499+3A>G) c.5105+3A>G (n.5105+3A>G) n.112+3A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863645G>C | CA16607893 | ALPK3 | c.4499+5G>C (n.4499+5G>C) c.5105+5G>C (n.5105+5G>C) n.112+5G>C | ClinVar dbSNP gnomAD v4 |
15 | g.84863645G= | CA2192381605 | ALPK3 | c.4499+5G= (n.4499+5G=) c.5105+5G= (n.5105+5G=) n.112+5G= | |
15 | g.84863647A>G | CA2630115680 | ALPK3 | c.4499+7A>G (n.4499+7A>G) c.5105+7A>G (n.5105+7A>G) n.112+7A>G | gnomAD v4 |
15 | g.84863648C>A | CA2630115689 | ALPK3 | c.4499+8C>A (n.4499+8C>A) c.5105+8C>A (n.5105+8C>A) n.112+8C>A | gnomAD v4 |
15 | g.84863648C= | CA2192381610 | ALPK3 | c.4499+8C= (n.4499+8C=) c.5105+8C= (n.5105+8C=) n.112+8C= | |
15 | g.84863648C>T | CA7709989 | ALPK3 | c.4499+8C>T (n.4499+8C>T) c.5105+8C>T (n.5105+8C>T) n.112+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863649G>A | CA7709991 | ALPK3 | c.4499+9G>A (n.4499+9G>A) c.5105+9G>A (n.5105+9G>A) n.112+9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863649G= | CA2192381616 | ALPK3 | c.4499+9G= (n.4499+9G=) c.5105+9G= (n.5105+9G=) n.112+9G= | |
15 | g.84863649G>T | CA7709990 | ALPK3 | c.4499+9G>T (n.4499+9G>T) c.5105+9G>T (n.5105+9G>T) n.112+9G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863650C>A | CA619447485 | ALPK3 | c.4499+10C>A (n.4499+10C>A) c.5105+10C>A (n.5105+10C>A) n.112+10C>A | dbSNP gnomAD v2 |
15 | g.84863650C= | CA2192381617 | ALPK3 | c.4499+10C= (n.4499+10C=) c.5105+10C= (n.5105+10C=) n.112+10C= | |
15 | g.84863652G>T | CA2575820621 | ALPK3 | c.4499+12G>T (n.4499+12G>T) c.5105+12G>T (n.5105+12G>T) n.112+12G>T | ClinVar |
15 | g.84863653C>A | CA2630115702 | ALPK3 | c.4499+13C>A (n.4499+13C>A) c.5105+13C>A (n.5105+13C>A) n.112+13C>A | gnomAD v4 |
15 | g.84863653C= | CA2192381620 | ALPK3 | c.4499+13C= (n.4499+13C=) c.5105+13C= (n.5105+13C=) n.112+13C= | |
15 | g.84863653C>G | CA716488362 | ALPK3 | c.4499+13C>G (n.4499+13C>G) c.5105+13C>G (n.5105+13C>G) n.112+13C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.84863653C>T | CA7709992 | ALPK3 | c.4499+13C>T (n.4499+13C>T) c.5105+13C>T (n.5105+13C>T) n.112+13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863654G>A | CA7709993 | ALPK3 | c.4499+14G>A (n.4499+14G>A) c.5105+14G>A (n.5105+14G>A) n.112+14G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.84863654G= | CA2192381628 | ALPK3 | c.4499+14G= (n.4499+14G=) c.5105+14G= (n.5105+14G=) n.112+14G= | |
15 | g.84863654G>T | CA7709994 | ALPK3 | c.4499+14G>T (n.4499+14G>T) c.5105+14G>T (n.5105+14G>T) n.112+14G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.84863659_84863661del | CA2630115706 | ALPK3 | c.4499+19_4499+21del (n.4499+19_4499+21del) c.5105+19_5105+21del (n.5105+19_5105+21del) n.112+19_112+21del | gnomAD v4 |