Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.84863554delCA1139667047ALPK3c.4413del
c.5019del
n.26del
ClinVar dbSNP
15g.84863554G>ACA492010222ALPK3c.4413G>A (p.Gly1471=)
c.5019G>A (p.Gly1673=)
n.26G>A
15g.84863554G>CCA492010223ALPK3c.4413G>C (p.Gly1471=)
c.5019G>C (p.Gly1673=)
n.26G>C
15g.84863554G>TCA492010226ALPK3c.4413G>T (p.Gly1471=)
c.5019G>T (p.Gly1673=)
n.26G>T
15g.84863555T>ACA393363614ALPK3c.4414T>A (p.Cys1472Ser)
c.5020T>A (p.Cys1674Ser)
n.27T>A
15g.84863555T>CCA393363612ALPK3c.4414T>C (p.Cys1472Arg)
c.5020T>C (p.Cys1674Arg)
n.27T>C
15g.84863555T>GCA393363610ALPK3c.4414T>G (p.Cys1472Gly)
c.5020T>G (p.Cys1674Gly)
n.27T>G
15g.84863556G>ACA393363616ALPK3c.4415G>A (p.Cys1472Tyr)
c.5021G>A (p.Cys1674Tyr)
n.28G>A
15g.84863556G>CCA393363617ALPK3c.4415G>C (p.Cys1472Ser)
c.5021G>C (p.Cys1674Ser)
n.28G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84863556G=CA2192381363ALPK3c.4415G= (p.Cys1472=)
c.5021G= (p.Cys1674=)
n.28G=
15g.84863556G>TCA393363619ALPK3c.4415G>T (p.Cys1472Phe)
c.5021G>T (p.Cys1674Phe)
n.28G>T
15g.84863557C>ACA393363621ALPK3c.4416C>A (p.Cys1472Ter)
c.5022C>A (p.Cys1674Ter)
n.29C>A
15g.84863557C>GCA393363623ALPK3c.4416C>G (p.Cys1472Trp)
c.5022C>G (p.Cys1674Trp)
n.29C>G
15g.84863557C>TCA492010240ALPK3c.4416C>T (p.Cys1472=)
c.5022C>T (p.Cys1674=)
n.29C>T
15g.84863558A>CCA393363625ALPK3c.4417A>C (p.Lys1473Gln)
c.5023A>C (p.Lys1675Gln)
n.30A>C
15g.84863558A>GCA393363627ALPK3c.4417A>G (p.Lys1473Glu)
c.5023A>G (p.Lys1675Glu)
n.30A>G
15g.84863558A>TCA393363628ALPK3c.4417A>T (p.Lys1473Ter)
c.5023A>T (p.Lys1675Ter)
n.30A>T
15g.84863559A>CCA393363631ALPK3c.4418A>C (p.Lys1473Thr)
c.5024A>C (p.Lys1675Thr)
n.31A>C
15g.84863559A>GCA393363633ALPK3c.4418A>G (p.Lys1473Arg)
c.5024A>G (p.Lys1675Arg)
n.31A>G
gnomAD v4
15g.84863559A>TCA393363634ALPK3c.4418A>T (p.Lys1473Met)
c.5024A>T (p.Lys1675Met)
n.31A>T
15g.84863560G>ACA492010252ALPK3c.4419G>A (p.Lys1473=)
c.5025G>A (p.Lys1675=)
n.32G>A
15g.84863560G>CCA393363636ALPK3c.4419G>C (p.Lys1473Asn)
c.5025G>C (p.Lys1675Asn)
n.32G>C
15g.84863560G>TCA393363638ALPK3c.4419G>T (p.Lys1473Asn)
c.5025G>T (p.Lys1675Asn)
n.32G>T
15g.84863561A>CCA393363644ALPK3c.4420A>C (p.Ile1474Leu)
c.5026A>C (p.Ile1676Leu)
n.33A>C
15g.84863561A>GCA393363640ALPK3c.4420A>G (p.Ile1474Val)
c.5026A>G (p.Ile1676Val)
n.33A>G
gnomAD v4
15g.84863561A>TCA393363642ALPK3c.4420A>T (p.Ile1474Phe)
c.5026A>T (p.Ile1676Phe)
n.33A>T
15g.84863562T>ACA393363646ALPK3c.4421T>A (p.Ile1474Asn)
c.5027T>A (p.Ile1676Asn)
n.34T>A
15g.84863562T>CCA393363648ALPK3c.4421T>C (p.Ile1474Thr)
c.5027T>C (p.Ile1676Thr)
n.34T>C
15g.84863562T>GCA393363650ALPK3c.4421T>G (p.Ile1474Ser)
c.5027T>G (p.Ile1676Ser)
n.34T>G
15g.84863563C>ACA492010268ALPK3c.4422C>A (p.Ile1474=)
c.5028C>A (p.Ile1676=)
n.35C>A
15g.84863563C=CA2192381377ALPK3c.4422C= (p.Ile1474=)
c.5028C= (p.Ile1676=)
n.35C=
15g.84863563C>GCA7709965ALPK3c.4422C>G (p.Ile1474Met)
c.5028C>G (p.Ile1676Met)
n.35C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863563C>TCA492010266ALPK3c.4422C>T (p.Ile1474=)
c.5028C>T (p.Ile1676=)
n.35C>T
15g.84863564dupCA2630115390ALPK3c.4423dup (p.Gln1475ProfsTer26)
c.5029dup (p.Gln1677ProfsTer26)
n.36dup
gnomAD v4
15g.84863564C>ACA393363652ALPK3c.4423C>A (p.Gln1475Lys)
c.5029C>A (p.Gln1677Lys)
n.36C>A
15g.84863564C>GCA393363653ALPK3c.4423C>G (p.Gln1475Glu)
c.5029C>G (p.Gln1677Glu)
n.36C>G
gnomAD v4
15g.84863564C>TCA393363655ALPK3c.4423C>T (p.Gln1475Ter)
c.5029C>T (p.Gln1677Ter)
n.36C>T
gnomAD v4
15g.84863565A>CCA393363657ALPK3c.4424A>C (p.Gln1475Pro)
c.5030A>C (p.Gln1677Pro)
n.37A>C
15g.84863565A>GCA393363659ALPK3c.4424A>G (p.Gln1475Arg)
c.5030A>G (p.Gln1677Arg)
n.37A>G
15g.84863565A>TCA393363661ALPK3c.4424A>T (p.Gln1475Leu)
c.5030A>T (p.Gln1677Leu)
n.37A>T
15g.84863566G>ACA492010278ALPK3c.4425G>A (p.Gln1475=)
c.5031G>A (p.Gln1677=)
n.38G>A
dbSNP
15g.84863566G>CCA393363663ALPK3c.4425G>C (p.Gln1475His)
c.5031G>C (p.Gln1677His)
n.38G>C
15g.84863566G=CA2192381381ALPK3c.4425G= (p.Gln1475=)
c.5031G= (p.Gln1677=)
n.38G=
15g.84863566G>TCA393363665ALPK3c.4425G>T (p.Gln1475His)
c.5031G>T (p.Gln1677His)
n.38G>T
gnomAD v4
15g.84863567A=CA2192381385ALPK3c.4426A= (p.Asn1476=)
c.5032A= (p.Asn1678=)
n.39A=
15g.84863567A>CCA393363671ALPK3c.4426A>C (p.Asn1476His)
c.5032A>C (p.Asn1678His)
n.39A>C
15g.84863567A>GCA393363669ALPK3c.4426A>G (p.Asn1476Asp)
c.5032A>G (p.Asn1678Asp)
n.39A>G
dbSNP gnomAD v2 gnomAD v4
15g.84863567A>TCA393363667ALPK3c.4426A>T (p.Asn1476Tyr)
c.5032A>T (p.Asn1678Tyr)
n.39A>T
15g.84863568A>CCA393363673ALPK3c.4427A>C (p.Asn1476Thr)
c.5033A>C (p.Asn1678Thr)
n.40A>C
15g.84863568A>GCA393363675ALPK3c.4427A>G (p.Asn1476Ser)
c.5033A>G (p.Asn1678Ser)
n.40A>G
ClinVar
15g.84863568A>TCA393363674ALPK3c.4427A>T (p.Asn1476Ile)
c.5033A>T (p.Asn1678Ile)
n.40A>T
15g.84863569C>ACA393363677ALPK3c.4428C>A (p.Asn1476Lys)
c.5034C>A (p.Asn1678Lys)
n.41C>A
15g.84863569C=CA2192381390ALPK3c.4428C= (p.Asn1476=)
c.5034C= (p.Asn1678=)
n.41C=
15g.84863569C>GCA393363680ALPK3c.4428C>G (p.Asn1476Lys)
c.5034C>G (p.Asn1678Lys)
n.41C>G
15g.84863569C>TCA7709966ALPK3c.4428C>T (p.Asn1476=)
c.5034C>T (p.Asn1678=)
n.41C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863570A=CA2192381393ALPK3c.4429A= (p.Met1477=)
c.5035A= (p.Met1679=)
n.42A=
15g.84863570A>CCA393363682ALPK3c.4429A>C (p.Met1477Leu)
c.5035A>C (p.Met1679Leu)
n.42A>C
15g.84863570A>GCA7709967ALPK3c.4429A>G (p.Met1477Val)
c.5035A>G (p.Met1679Val)
n.42A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863570A>TCA393363685ALPK3c.4429A>T (p.Met1477Leu)
c.5035A>T (p.Met1679Leu)
n.42A>T
gnomAD v4
15g.84863571T>ACA393363688ALPK3c.4430T>A (p.Met1477Lys)
c.5036T>A (p.Met1679Lys)
n.43T>A
15g.84863571T>CCA393363692ALPK3c.4430T>C (p.Met1477Thr)
c.5036T>C (p.Met1679Thr)
n.43T>C
ClinVar gnomAD v4
15g.84863571T>GCA393363690ALPK3c.4430T>G (p.Met1477Arg)
c.5036T>G (p.Met1679Arg)
n.43T>G
15g.84863572G>ACA393363694ALPK3c.4431G>A (p.Met1477Ile)
c.5037G>A (p.Met1679Ile)
n.44G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84863572G>CCA393363698ALPK3c.4431G>C (p.Met1477Ile)
c.5037G>C (p.Met1679Ile)
n.44G>C
15g.84863572G=CA2192381399ALPK3c.4431G= (p.Met1477=)
c.5037G= (p.Met1679=)
n.44G=
15g.84863572G>TCA393363696ALPK3c.4431G>T (p.Met1477Ile)
c.5037G>T (p.Met1679Ile)
n.44G>T
15g.84863573A>CCA393363700ALPK3c.4432A>C (p.Ser1478Arg)
c.5038A>C (p.Ser1680Arg)
n.45A>C
15g.84863573A>GCA393363703ALPK3c.4432A>G (p.Ser1478Gly)
c.5038A>G (p.Ser1680Gly)
n.45A>G
15g.84863573A>TCA393363701ALPK3c.4432A>T (p.Ser1478Cys)
c.5038A>T (p.Ser1680Cys)
n.45A>T
15g.84863574delCA2630115441ALPK3c.4433del (p.Ser1478IlefsTer29)
c.5039del (p.Ser1680IlefsTer29)
n.46del
gnomAD v4
15g.84863574G>ACA393363705ALPK3c.4433G>A (p.Ser1478Asn)
c.5039G>A (p.Ser1680Asn)
n.46G>A
gnomAD v4
15g.84863574G>CCA393363707ALPK3c.4433G>C (p.Ser1478Thr)
c.5039G>C (p.Ser1680Thr)
n.46G>C
15g.84863574G>TCA393363709ALPK3c.4433G>T (p.Ser1478Ile)
c.5039G>T (p.Ser1680Ile)
n.46G>T
15g.84863575T>ACA393363711ALPK3c.4434T>A (p.Ser1478Arg)
c.5040T>A (p.Ser1680Arg)
n.47T>A
15g.84863575T>CCA492010319ALPK3c.4434T>C (p.Ser1478=)
c.5040T>C (p.Ser1680=)
n.47T>C
gnomAD v4
15g.84863575T>GCA393363712ALPK3c.4434T>G (p.Ser1478Arg)
c.5040T>G (p.Ser1680Arg)
n.47T>G
15g.84863576C>ACA492010326ALPK3c.4435C>A (p.Arg1479=)
c.5041C>A (p.Arg1681=)
n.48C>A
15g.84863576C=CA2192381406ALPK3c.4435C= (p.Arg1479=)
c.5041C= (p.Arg1681=)
n.48C=
15g.84863576C>GCA393363714ALPK3c.4435C>G (p.Arg1479Gly)
c.5041C>G (p.Arg1681Gly)
n.48C>G
ClinVar
15g.84863576C>TCA7709968ALPK3c.4435C>T (p.Arg1479Trp)
c.5041C>T (p.Arg1681Trp)
n.48C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84863577G>ACA7709969ALPK3c.4436G>A (p.Arg1479Gln)
c.5042G>A (p.Arg1681Gln)
n.49G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84863577G>CCA393363717ALPK3c.4436G>C (p.Arg1479Pro)
c.5042G>C (p.Arg1681Pro)
n.49G>C
dbSNP gnomAD v2 gnomAD v4
15g.84863577G=CA2192381421ALPK3c.4436G= (p.Arg1479=)
c.5042G= (p.Arg1681=)
n.49G=
15g.84863577G>TCA393363718ALPK3c.4436G>T (p.Arg1479Leu)
c.5042G>T (p.Arg1681Leu)
n.49G>T
gnomAD v4
15g.84863578G>ACA492010335ALPK3c.4437G>A (p.Arg1479=)
c.5043G>A (p.Arg1681=)
n.50G>A
dbSNP COSMIC COSMIC
15g.84863578G>CCA492010336ALPK3c.4437G>C (p.Arg1479=)
c.5043G>C (p.Arg1681=)
n.50G>C
15g.84863578G=CA2192381427ALPK3c.4437G= (p.Arg1479=)
c.5043G= (p.Arg1681=)
n.50G=
15g.84863578G>TCA492010338ALPK3c.4437G>T (p.Arg1479=)
c.5043G>T (p.Arg1681=)
n.50G>T
15g.84863579G>ACA393363722ALPK3c.4438G>A (p.Glu1480Lys)
c.5044G>A (p.Glu1682Lys)
n.51G>A
15g.84863579G>CCA393363721ALPK3c.4438G>C (p.Glu1480Gln)
c.5044G>C (p.Glu1682Gln)
n.51G>C
15g.84863579G=CA2192381430ALPK3c.4438G= (p.Glu1480=)
c.5044G= (p.Glu1682=)
n.51G=
15g.84863579G>TCA7709970ALPK3c.4438G>T (p.Glu1480Ter)
c.5044G>T (p.Glu1682Ter)
n.51G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84863580A>CCA393363724ALPK3c.4439A>C (p.Glu1480Ala)
c.5045A>C (p.Glu1682Ala)
n.52A>C
15g.84863580A>GCA393363726ALPK3c.4439A>G (p.Glu1480Gly)
c.5045A>G (p.Glu1682Gly)
n.52A>G
15g.84863580A>TCA393363728ALPK3c.4439A>T (p.Glu1480Val)
c.5045A>T (p.Glu1682Val)
n.52A>T
15g.84863581G>ACA492010354ALPK3c.4440G>A (p.Glu1480=)
c.5046G>A (p.Glu1682=)
n.53G>A
gnomAD v4
15g.84863581G>CCA393363730ALPK3c.4440G>C (p.Glu1480Asp)
c.5046G>C (p.Glu1682Asp)
n.53G>C
15g.84863581G>TCA393363731ALPK3c.4440G>T (p.Glu1480Asp)
c.5046G>T (p.Glu1682Asp)
n.53G>T
15g.84863582T>ACA393363733ALPK3c.4441T>A (p.Tyr1481Asn)
c.5047T>A (p.Tyr1683Asn)
n.54T>A
15g.84863582T>CCA393363735ALPK3c.4441T>C (p.Tyr1481His)
c.5047T>C (p.Tyr1683His)
n.54T>C
15g.84863582T>GCA393363737ALPK3c.4441T>G (p.Tyr1481Asp)
c.5047T>G (p.Tyr1683Asp)
n.54T>G
15g.84863583A>CCA393363739ALPK3c.4442A>C (p.Tyr1481Ser)
c.5048A>C (p.Tyr1683Ser)
n.55A>C
15g.84863583A>GCA393363741ALPK3c.4442A>G (p.Tyr1481Cys)
c.5048A>G (p.Tyr1683Cys)
n.55A>G
gnomAD v4
15g.84863583A>TCA393363743ALPK3c.4442A>T (p.Tyr1481Phe)
c.5048A>T (p.Tyr1683Phe)
n.55A>T
15g.84863584C>ACA393363744ALPK3c.4443C>A (p.Tyr1481Ter)
c.5049C>A (p.Tyr1683Ter)
n.56C>A
15g.84863584C>GCA393363746ALPK3c.4443C>G (p.Tyr1481Ter)
c.5049C>G (p.Tyr1683Ter)
n.56C>G
15g.84863584C>TCA492010367ALPK3c.4443C>T (p.Tyr1481=)
c.5049C>T (p.Tyr1683=)
n.56C>T
15g.84863585T>ACA393363748ALPK3c.4444T>A (p.Cys1482Ser)
c.5050T>A (p.Cys1684Ser)
n.57T>A
gnomAD v4
15g.84863585T>CCA393363749ALPK3c.4444T>C (p.Cys1482Arg)
c.5050T>C (p.Cys1684Arg)
n.57T>C
dbSNP gnomAD v4
15g.84863585T>GCA393363751ALPK3c.4444T>G (p.Cys1482Gly)
c.5050T>G (p.Cys1684Gly)
n.57T>G
15g.84863585T=CA2192381433ALPK3c.4444T= (p.Cys1482=)
c.5050T= (p.Cys1684=)
n.57T=
15g.84863586G>ACA393363753ALPK3c.4445G>A (p.Cys1482Tyr)
c.5051G>A (p.Cys1684Tyr)
n.58G>A
gnomAD v4
15g.84863586G>CCA393363755ALPK3c.4445G>C (p.Cys1482Ser)
c.5051G>C (p.Cys1684Ser)
n.58G>C
15g.84863586G>TCA393363757ALPK3c.4445G>T (p.Cys1482Phe)
c.5051G>T (p.Cys1684Phe)
n.58G>T
15g.84863587C>ACA393363759ALPK3c.4446C>A (p.Cys1482Ter)
c.5052C>A (p.Cys1684Ter)
n.59C>A
15g.84863587C>GCA393363761ALPK3c.4446C>G (p.Cys1482Trp)
c.5052C>G (p.Cys1684Trp)
n.59C>G
15g.84863587C>TCA492010385ALPK3c.4446C>T (p.Cys1482=)
c.5052C>T (p.Cys1684=)
n.59C>T
gnomAD v4
15g.84863588A>CCA393363762ALPK3c.4447A>C (p.Lys1483Gln)
c.5053A>C (p.Lys1685Gln)
n.60A>C
15g.84863588A>GCA393363764ALPK3c.4447A>G (p.Lys1483Glu)
c.5053A>G (p.Lys1685Glu)
n.60A>G
15g.84863588A>TCA393363766ALPK3c.4447A>T (p.Lys1483Ter)
c.5053A>T (p.Lys1685Ter)
n.60A>T
15g.84863589A=CA2192381440ALPK3c.4448A= (p.Lys1483=)
c.5054A= (p.Lys1685=)
n.61A=
15g.84863589A>CCA393363771ALPK3c.4448A>C (p.Lys1483Thr)
c.5054A>C (p.Lys1685Thr)
n.61A>C
15g.84863589A>GCA7709971ALPK3c.4448A>G (p.Lys1483Arg)
c.5054A>G (p.Lys1685Arg)
n.61A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863589A>TCA393363768ALPK3c.4448A>T (p.Lys1483Ile)
c.5054A>T (p.Lys1685Ile)
n.61A>T
dbSNP gnomAD v3 gnomAD v4
15g.84863590A>CCA393363773ALPK3c.4449A>C (p.Lys1483Asn)
c.5055A>C (p.Lys1685Asn)
n.62A>C
15g.84863590A>GCA492010398ALPK3c.4449A>G (p.Lys1483=)
c.5055A>G (p.Lys1685=)
n.62A>G
15g.84863590A>TCA393363774ALPK3c.4449A>T (p.Lys1483Asn)
c.5055A>T (p.Lys1685Asn)
n.62A>T
15g.84863591A=CA2192381448ALPK3c.4450A= (p.Ile1484=)
c.5056A= (p.Ile1686=)
n.63A=
15g.84863591A>CCA393363778ALPK3c.4450A>C (p.Ile1484Leu)
c.5056A>C (p.Ile1686Leu)
n.63A>C
dbSNP gnomAD v2 gnomAD v4
15g.84863591A>GCA393363779ALPK3c.4450A>G (p.Ile1484Val)
c.5056A>G (p.Ile1686Val)
n.63A>G
15g.84863591A>TCA393363781ALPK3c.4450A>T (p.Ile1484Phe)
c.5056A>T (p.Ile1686Phe)
n.63A>T
15g.84863592T>ACA393363783ALPK3c.4451T>A (p.Ile1484Asn)
c.5057T>A (p.Ile1686Asn)
n.64T>A
15g.84863592T>CCA393363785ALPK3c.4451T>C (p.Ile1484Thr)
c.5057T>C (p.Ile1686Thr)
n.64T>C
15g.84863592T>GCA393363787ALPK3c.4451T>G (p.Ile1484Ser)
c.5057T>G (p.Ile1686Ser)
n.64T>G
15g.84863594_84863596delCA2580090198ALPK3c.4453_4455del (p.Phe1485del)
c.5059_5061del (p.Phe1687del)
n.66_68del
ClinVar
15g.84863593C>ACA492010405ALPK3c.4452C>A (p.Ile1484=)
c.5058C>A (p.Ile1686=)
n.65C>A
15g.84863593C>GCA393363789ALPK3c.4452C>G (p.Ile1484Met)
c.5058C>G (p.Ile1686Met)
n.65C>G
15g.84863593C>TCA492010408ALPK3c.4452C>T (p.Ile1484=)
c.5058C>T (p.Ile1686=)
n.65C>T
15g.84863593_84863594delinsCTCA2192381451ALPK3c.4452_4453delinsCT (p.Ile1484=)
c.5058_5059delinsCT (p.Ile1686=)
n.65_66delinsCT
15g.84863594T>ACA393363790ALPK3c.4453T>A (p.Phe1485Ile)
c.5059T>A (p.Phe1687Ile)
n.66T>A
15g.84863594T>CCA273632035ALPK3c.4453T>C (p.Phe1485Leu)
c.5059T>C (p.Phe1687Leu)
n.66T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84863594T>GCA393363791ALPK3c.4453T>G (p.Phe1485Val)
c.5059T>G (p.Phe1687Val)
n.66T>G
15g.84863594T=CA2192381454ALPK3c.4453T= (p.Phe1485=)
c.5059T= (p.Phe1687=)
n.66T=
15g.84863595delCA716488195ALPK3c.4454del (p.Phe1485SerfsTer22)
c.5060del (p.Phe1687SerfsTer22)
n.67del
dbSNP gnomAD v3 gnomAD v4
15g.84863595T>ACA393363794ALPK3c.4454T>A (p.Phe1485Tyr)
c.5060T>A (p.Phe1687Tyr)
n.67T>A
gnomAD v4
15g.84863595T>CCA393363796ALPK3c.4454T>C (p.Phe1485Ser)
c.5060T>C (p.Phe1687Ser)
n.67T>C
15g.84863595T>GCA393363793ALPK3c.4454T>G (p.Phe1485Cys)
c.5060T>G (p.Phe1687Cys)
n.67T>G
15g.84863596C>ACA393363800ALPK3c.4455C>A (p.Phe1485Leu)
c.5061C>A (p.Phe1687Leu)
n.68C>A
gnomAD v4
15g.84863596C=CA2192381460ALPK3c.4455C= (p.Phe1485=)
c.5061C= (p.Phe1687=)
n.68C=
15g.84863596C>GCA7709972ALPK3c.4455C>G (p.Phe1485Leu)
c.5061C>G (p.Phe1687Leu)
n.68C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863596C>TCA7709973ALPK3c.4455C>T (p.Phe1485=)
c.5061C>T (p.Phe1687=)
n.68C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863597G>ACA7709974ALPK3c.4456G>A (p.Ala1486Thr)
c.5062G>A (p.Ala1688Thr)
n.69G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84863597G>CCA393363803ALPK3c.4456G>C (p.Ala1486Pro)
c.5062G>C (p.Ala1688Pro)
n.69G>C
15g.84863597G=CA2192381470ALPK3c.4456G= (p.Ala1486=)
c.5062G= (p.Ala1688=)
n.69G=
15g.84863597G>TCA393363805ALPK3c.4456G>T (p.Ala1486Ser)
c.5062G>T (p.Ala1688Ser)
n.69G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.84863598C>ACA393363806ALPK3c.4457C>A (p.Ala1486Glu)
c.5063C>A (p.Ala1688Glu)
n.70C>A
15g.84863598C>GCA393363807ALPK3c.4457C>G (p.Ala1486Gly)
c.5063C>G (p.Ala1688Gly)
n.70C>G
15g.84863598C>TCA393363809ALPK3c.4457C>T (p.Ala1486Val)
c.5063C>T (p.Ala1688Val)
n.70C>T
gnomAD v4
15g.84863599A=CA2192381474ALPK3c.4458A= (p.Ala1486=)
c.5064A= (p.Ala1688=)
n.71A=
15g.84863599A>CCA492010445ALPK3c.4458A>C (p.Ala1486=)
c.5064A>C (p.Ala1688=)
n.71A>C
15g.84863599A>GCA7709975ALPK3c.4458A>G (p.Ala1486=)
c.5064A>G (p.Ala1688=)
n.71A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84863599A>TCA492010441ALPK3c.4458A>T (p.Ala1486=)
c.5064A>T (p.Ala1688=)
n.71A>T
15g.84863600G>ACA393363813ALPK3c.4459G>A (p.Ala1487Thr)
c.5065G>A (p.Ala1689Thr)
n.72G>A
gnomAD v4
15g.84863600G>CCA393363815ALPK3c.4459G>C (p.Ala1487Pro)
c.5065G>C (p.Ala1689Pro)
n.72G>C
15g.84863600G>TCA393363817ALPK3c.4459G>T (p.Ala1487Ser)
c.5065G>T (p.Ala1689Ser)
n.72G>T
15g.84863601C>ACA393363823ALPK3c.4460C>A (p.Ala1487Glu)
c.5066C>A (p.Ala1689Glu)
n.73C>A
15g.84863601C>GCA393363821ALPK3c.4460C>G (p.Ala1487Gly)
c.5066C>G (p.Ala1689Gly)
n.73C>G
15g.84863601C>TCA393363820ALPK3c.4460C>T (p.Ala1487Val)
c.5066C>T (p.Ala1689Val)
n.73C>T
15g.84863601_84863602delinsCACA2192381479ALPK3c.4460_4461delinsCA (p.Ala1487=)
c.5066_5067delinsCA (p.Ala1689=)
n.73_74delinsCA
15g.84863602delCA492010456ALPK3c.4461del (p.Glu1488LysfsTer19)
c.5067del (p.Glu1690LysfsTer19)
n.74del
ClinVar dbSNP gnomAD v4
15g.84863602A>CCA492010452ALPK3c.4461A>C (p.Ala1487=)
c.5067A>C (p.Ala1689=)
n.74A>C
15g.84863602A>GCA492010453ALPK3c.4461A>G (p.Ala1487=)
c.5067A>G (p.Ala1689=)
n.74A>G
15g.84863602A>TCA492010455ALPK3c.4461A>T (p.Ala1487=)
c.5067A>T (p.Ala1689=)
n.74A>T
COSMIC COSMIC
15g.84863603delCA393363830ALPK3c.4462del (p.Glu1488LysfsTer19)
c.5068del (p.Glu1690LysfsTer19)
n.75del
15g.84863603G>ACA393363825ALPK3c.4462G>A (p.Glu1488Lys)
c.5068G>A (p.Glu1690Lys)
n.75G>A
ClinVar
15g.84863603G>CCA393363828ALPK3c.4462G>C (p.Glu1488Gln)
c.5068G>C (p.Glu1690Gln)
n.75G>C
15g.84863603G>TCA393363829ALPK3c.4462G>T (p.Glu1488Ter)
c.5068G>T (p.Glu1690Ter)
n.75G>T
15g.84863604A>CCA393363833ALPK3c.4463A>C (p.Glu1488Ala)
c.5069A>C (p.Glu1690Ala)
n.76A>C
15g.84863604A>GCA393363834ALPK3c.4463A>G (p.Glu1488Gly)
c.5069A>G (p.Glu1690Gly)
n.76A>G
15g.84863604A>TCA393363835ALPK3c.4463A>T (p.Glu1488Val)
c.5069A>T (p.Glu1690Val)
n.76A>T
15g.84863605A>CCA393363836ALPK3c.4464A>C (p.Glu1488Asp)
c.5070A>C (p.Glu1690Asp)
n.77A>C
15g.84863605A>GCA492010465ALPK3c.4464A>G (p.Glu1488=)
c.5070A>G (p.Glu1690=)
n.77A>G
15g.84863605A>TCA393363838ALPK3c.4464A>T (p.Glu1488Asp)
c.5070A>T (p.Glu1690Asp)
n.77A>T
15g.84863606G>ACA393363840ALPK3c.4465G>A (p.Ala1489Thr)
c.5071G>A (p.Ala1691Thr)
n.78G>A
15g.84863606G>CCA393363841ALPK3c.4465G>C (p.Ala1489Pro)
c.5071G>C (p.Ala1691Pro)
n.78G>C
15g.84863606G=CA2192381484ALPK3c.4465G= (p.Ala1489=)
c.5071G= (p.Ala1691=)
n.78G=
15g.84863606G>TCA393363842ALPK3c.4465G>T (p.Ala1489Ser)
c.5071G>T (p.Ala1691Ser)
n.78G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84863607C>ACA393363847ALPK3c.4466C>A (p.Ala1489Asp)
c.5072C>A (p.Ala1691Asp)
n.79C>A
15g.84863607C=CA2192381488ALPK3c.4466C= (p.Ala1489=)
c.5072C= (p.Ala1691=)
n.79C=
15g.84863607C>GCA393363845ALPK3c.4466C>G (p.Ala1489Gly)
c.5072C>G (p.Ala1691Gly)
n.79C>G
15g.84863607C>TCA273632095ALPK3c.4466C>T (p.Ala1489Val)
c.5072C>T (p.Ala1691Val)
n.79C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84863609dupCA273632093ALPK3c.4468dup (p.Arg1490ProfsTer11)
c.5074dup (p.Arg1692ProfsTer11)
n.81dup
dbSNP
15g.84863608C>ACA492010481ALPK3c.4467C>A (p.Ala1489=)
c.5073C>A (p.Ala1691=)
n.80C>A
15g.84863608C>GCA492010482ALPK3c.4467C>G (p.Ala1489=)
c.5073C>G (p.Ala1691=)
n.80C>G
15g.84863608C>TCA492010483ALPK3c.4467C>T (p.Ala1489=)
c.5073C>T (p.Ala1691=)
n.80C>T
15g.84863609C>ACA492010486ALPK3c.4468C>A (p.Arg1490=)
c.5074C>A (p.Arg1692=)
n.81C>A
15g.84863609C=CA2192381493ALPK3c.4468C= (p.Arg1490=)
c.5074C= (p.Arg1692=)
n.81C=
15g.84863609C>GCA393363849ALPK3c.4468C>G (p.Arg1490Gly)
c.5074C>G (p.Arg1692Gly)
n.81C>G
gnomAD v4
15g.84863609C>TCA7709976ALPK3c.4468C>T (p.Arg1490Trp)
c.5074C>T (p.Arg1692Trp)
n.81C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863610G>ACA7709977ALPK3c.4469G>A (p.Arg1490Gln)
c.5075G>A (p.Arg1692Gln)
n.82G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863610G>CCA393363853ALPK3c.4469G>C (p.Arg1490Pro)
c.5075G>C (p.Arg1692Pro)
n.82G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.84863610G=CA2192381499ALPK3c.4469G= (p.Arg1490=)
c.5075G= (p.Arg1692=)
n.82G=
15g.84863610G>TCA393363855ALPK3c.4469G>T (p.Arg1490Leu)
c.5075G>T (p.Arg1692Leu)
n.82G>T
COSMIC COSMIC
15g.84863612delCA2630115517ALPK3c.4471del (p.Ala1491ProfsTer16)
c.5077del (p.Ala1693ProfsTer16)
n.84del
gnomAD v4
15g.84863611G>ACA492010504ALPK3c.4470G>A (p.Arg1490=)
c.5076G>A (p.Arg1692=)
n.83G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84863611G>CCA7709978ALPK3c.4470G>C (p.Arg1490=)
c.5076G>C (p.Arg1692=)
n.83G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863611G=CA2192381509ALPK3c.4470G= (p.Arg1490=)
c.5076G= (p.Arg1692=)
n.83G=
15g.84863611G>TCA492010507ALPK3c.4470G>T (p.Arg1490=)
c.5076G>T (p.Arg1692=)
n.83G>T
gnomAD v4
15g.84863612G>ACA393363862ALPK3c.4471G>A (p.Ala1491Thr)
c.5077G>A (p.Ala1693Thr)
n.84G>A
15g.84863612G>CCA393363858ALPK3c.4471G>C (p.Ala1491Pro)
c.5077G>C (p.Ala1693Pro)
n.84G>C
15g.84863612G>TCA393363860ALPK3c.4471G>T (p.Ala1491Ser)
c.5077G>T (p.Ala1693Ser)
n.84G>T
15g.84863613C>ACA393363863ALPK3c.4472C>A (p.Ala1491Asp)
c.5078C>A (p.Ala1693Asp)
n.85C>A
15g.84863613C>GCA393363864ALPK3c.4472C>G (p.Ala1491Gly)
c.5078C>G (p.Ala1693Gly)
n.85C>G
15g.84863613C>TCA393363866ALPK3c.4472C>T (p.Ala1491Val)
c.5078C>T (p.Ala1693Val)
n.85C>T
15g.84863614C>ACA7709980ALPK3c.4473C>A (p.Ala1491=)
c.5079C>A (p.Ala1693=)
n.86C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863614C=CA2192381519ALPK3c.4473C= (p.Ala1491=)
c.5079C= (p.Ala1693=)
n.86C=
15g.84863614C>GCA492010512ALPK3c.4473C>G (p.Ala1491=)
c.5079C>G (p.Ala1693=)
n.86C>G
dbSNP gnomAD v4
15g.84863614C>TCA7709979ALPK3c.4473C>T (p.Ala1491=)
c.5079C>T (p.Ala1693=)
n.86C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84863615G>ACA7709981ALPK3c.4474G>A (p.Ala1492Thr)
c.5080G>A (p.Ala1694Thr)
n.87G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863615G>CCA393363871ALPK3c.4474G>C (p.Ala1492Pro)
c.5080G>C (p.Ala1694Pro)
n.87G>C
15g.84863615G=CA2192381528ALPK3c.4474G= (p.Ala1492=)
c.5080G= (p.Ala1694=)
n.87G=
15g.84863615G>TCA393363869ALPK3c.4474G>T (p.Ala1492Ser)
c.5080G>T (p.Ala1694Ser)
n.87G>T
gnomAD v4
15g.84863616C>ACA393363873ALPK3c.4475C>A (p.Ala1492Glu)
c.5081C>A (p.Ala1694Glu)
n.88C>A
15g.84863616C=CA2192381533ALPK3c.4475C= (p.Ala1492=)
c.5081C= (p.Ala1694=)
n.88C=
15g.84863616C>GCA393363874ALPK3c.4475C>G (p.Ala1492Gly)
c.5081C>G (p.Ala1694Gly)
n.88C>G
15g.84863616C>TCA273632129ALPK3c.4475C>T (p.Ala1492Val)
c.5081C>T (p.Ala1694Val)
n.88C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84863617G>ACA7709982ALPK3c.4476G>A (p.Ala1492=)
c.5082G>A (p.Ala1694=)
n.89G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84863617G>CCA492010533ALPK3c.4476G>C (p.Ala1492=)
c.5082G>C (p.Ala1694=)
n.89G>C
15g.84863617G=CA2192381539ALPK3c.4476G= (p.Ala1492=)
c.5082G= (p.Ala1694=)
n.89G=
15g.84863617G>TCA492010536ALPK3c.4476G>T (p.Ala1492=)
c.5082G>T (p.Ala1694=)
n.89G>T
dbSNP gnomAD v2 gnomAD v4
15g.84863618C>ACA393363877ALPK3c.4477C>A (p.Pro1493Thr)
c.5083C>A (p.Pro1695Thr)
n.90C>A
15g.84863618C=CA2192381548ALPK3c.4477C= (p.Pro1493=)
c.5083C= (p.Pro1695=)
n.90C=
15g.84863618C>GCA393363878ALPK3c.4477C>G (p.Pro1493Ala)
c.5083C>G (p.Pro1695Ala)
n.90C>G
15g.84863618C>TCA393363879ALPK3c.4477C>T (p.Pro1493Ser)
c.5083C>T (p.Pro1695Ser)
n.90C>T
dbSNP gnomAD v4
15g.84863619C>ACA393363881ALPK3c.4478C>A (p.Pro1493His)
c.5084C>A (p.Pro1695His)
n.91C>A
15g.84863619C>GCA393363883ALPK3c.4478C>G (p.Pro1493Arg)
c.5084C>G (p.Pro1695Arg)
n.91C>G
15g.84863619C>TCA393363885ALPK3c.4478C>T (p.Pro1493Leu)
c.5084C>T (p.Pro1695Leu)
n.91C>T
15g.84863620T>ACA492010546ALPK3c.4479T>A (p.Pro1493=)
c.5085T>A (p.Pro1695=)
n.92T>A
15g.84863620T>CCA492010552ALPK3c.4479T>C (p.Pro1493=)
c.5085T>C (p.Pro1695=)
n.92T>C
15g.84863620T>GCA492010549ALPK3c.4479T>G (p.Pro1493=)
c.5085T>G (p.Pro1695=)
n.92T>G
15g.84863621G>ACA393363890ALPK3c.4480G>A (p.Gly1494Ser)
c.5086G>A (p.Gly1696Ser)
n.93G>A
15g.84863621G>CCA393363888ALPK3c.4480G>C (p.Gly1494Arg)
c.5086G>C (p.Gly1696Arg)
n.93G>C
15g.84863621G>TCA393363886ALPK3c.4480G>T (p.Gly1494Cys)
c.5086G>T (p.Gly1696Cys)
n.93G>T
15g.84863622G>ACA393363892ALPK3c.4481G>A (p.Gly1494Asp)
c.5087G>A (p.Gly1696Asp)
n.94G>A
15g.84863622G>CCA393363895ALPK3c.4481G>C (p.Gly1494Ala)
c.5087G>C (p.Gly1696Ala)
n.94G>C
15g.84863622G=CA2192381558ALPK3c.4481G= (p.Gly1494=)
c.5087G= (p.Gly1696=)
n.94G=
15g.84863622G>TCA7709983ALPK3c.4481G>T (p.Gly1494Val)
c.5087G>T (p.Gly1696Val)
n.94G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84863623C>ACA492010561ALPK3c.4482C>A (p.Gly1494=)
c.5088C>A (p.Gly1696=)
n.95C>A
15g.84863623C=CA2192381561ALPK3c.4482C= (p.Gly1494=)
c.5088C= (p.Gly1696=)
n.95C=
15g.84863623C>GCA492010562ALPK3c.4482C>G (p.Gly1494=)
c.5088C>G (p.Gly1696=)
n.95C>G
15g.84863623C>TCA492010565ALPK3c.4482C>T (p.Gly1494=)
c.5088C>T (p.Gly1696=)
n.95C>T
dbSNP gnomAD v3 gnomAD v4
15g.84863624T>ACA393363897ALPK3c.4483T>A (p.Phe1495Ile)
c.5089T>A (p.Phe1697Ile)
n.96T>A
15g.84863624T>CCA393363898ALPK3c.4483T>C (p.Phe1495Leu)
c.5089T>C (p.Phe1697Leu)
n.96T>C
15g.84863624T>GCA393363899ALPK3c.4483T>G (p.Phe1495Val)
c.5089T>G (p.Phe1697Val)
n.96T>G
15g.84863625T>ACA393363902ALPK3c.4484T>A (p.Phe1495Tyr)
c.5090T>A (p.Phe1697Tyr)
n.97T>A
dbSNP
15g.84863625T>CCA393363903ALPK3c.4484T>C (p.Phe1495Ser)
c.5090T>C (p.Phe1697Ser)
n.97T>C
15g.84863625T>GCA393363904ALPK3c.4484T>G (p.Phe1495Cys)
c.5090T>G (p.Phe1697Cys)
n.97T>G
15g.84863625T=CA2192381562ALPK3c.4484T= (p.Phe1495=)
c.5090T= (p.Phe1697=)
n.97T=
15g.84863626T>ACA393363908ALPK3c.4485T>A (p.Phe1495Leu)
c.5091T>A (p.Phe1697Leu)
n.98T>A
15g.84863626T>CCA492010576ALPK3c.4485T>C (p.Phe1495=)
c.5091T>C (p.Phe1697=)
n.98T>C
dbSNP
15g.84863626T>GCA393363906ALPK3c.4485T>G (p.Phe1495Leu)
c.5091T>G (p.Phe1697Leu)
n.98T>G
15g.84863626T=CA2192381564ALPK3c.4485T= (p.Phe1495=)
c.5091T= (p.Phe1697=)
n.98T=
15g.84863627G>ACA393363910ALPK3c.4486G>A (p.Gly1496Arg)
c.5092G>A (p.Gly1698Arg)
n.99G>A
15g.84863627G>CCA393363912ALPK3c.4486G>C (p.Gly1496Arg)
c.5092G>C (p.Gly1698Arg)
n.99G>C
15g.84863627G=CA2192381567ALPK3c.4486G= (p.Gly1496=)
c.5092G= (p.Gly1698=)
n.99G=
15g.84863627G>TCA7709984ALPK3c.4486G>T (p.Gly1496Trp)
c.5092G>T (p.Gly1698Trp)
n.99G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863628G>ACA393363916ALPK3c.4487G>A (p.Gly1496Glu)
c.5093G>A (p.Gly1698Glu)
n.100G>A
15g.84863628G>CCA393363918ALPK3c.4487G>C (p.Gly1496Ala)
c.5093G>C (p.Gly1698Ala)
n.100G>C
15g.84863628G>TCA393363920ALPK3c.4487G>T (p.Gly1496Val)
c.5093G>T (p.Gly1698Val)
n.100G>T
15g.84863629G>ACA492010589ALPK3c.4488G>A (p.Gly1496=)
c.5094G>A (p.Gly1698=)
n.101G>A
15g.84863629G>CCA492010591ALPK3c.4488G>C (p.Gly1496=)
c.5094G>C (p.Gly1698=)
n.101G>C
gnomAD v4
15g.84863629G>TCA492010588ALPK3c.4488G>T (p.Gly1496=)
c.5094G>T (p.Gly1698=)
n.101G>T
15g.84863630G>ACA7709985ALPK3c.4489G>A (p.Glu1497Lys)
c.5095G>A (p.Glu1699Lys)
n.102G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.84863630G>CCA393363922ALPK3c.4489G>C (p.Glu1497Gln)
c.5095G>C (p.Glu1699Gln)
n.102G>C
15g.84863630G=CA2192381570ALPK3c.4489G= (p.Glu1497=)
c.5095G= (p.Glu1699=)
n.102G=
15g.84863630G>TCA393363924ALPK3c.4489G>T (p.Glu1497Ter)
c.5095G>T (p.Glu1699Ter)
n.102G>T
15g.84863631A>CCA393363927ALPK3c.4490A>C (p.Glu1497Ala)
c.5096A>C (p.Glu1699Ala)
n.103A>C
15g.84863631A>GCA393363929ALPK3c.4490A>G (p.Glu1497Gly)
c.5096A>G (p.Glu1699Gly)
n.103A>G
15g.84863631A>TCA393363931ALPK3c.4490A>T (p.Glu1497Val)
c.5096A>T (p.Glu1699Val)
n.103A>T
15g.84863632G>ACA7709986ALPK3c.4491G>A (p.Glu1497=)
c.5097G>A (p.Glu1699=)
n.104G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.84863632G>CCA393363934ALPK3c.4491G>C (p.Glu1497Asp)
c.5097G>C (p.Glu1699Asp)
n.104G>C
15g.84863632G=CA2192381574ALPK3c.4491G= (p.Glu1497=)
c.5097G= (p.Glu1699=)
n.104G=
15g.84863632G>TCA393363936ALPK3c.4491G>T (p.Glu1497Asp)
c.5097G>T (p.Glu1699Asp)
n.104G>T
15g.84863633delCA2805045364ALPK3c.4492del (p.Val1498CysfsTer9)
c.5098del (p.Val1700CysfsTer9)
n.105del
15g.84863633G>ACA393363938ALPK3c.4492G>A (p.Val1498Met)
c.5098G>A (p.Val1700Met)
n.105G>A
15g.84863633G>CCA393363939ALPK3c.4492G>C (p.Val1498Leu)
c.5098G>C (p.Val1700Leu)
n.105G>C
15g.84863633G>TCA393363940ALPK3c.4492G>T (p.Val1498Leu)
c.5098G>T (p.Val1700Leu)
n.105G>T
15g.84863634T>ACA393363942ALPK3c.4493T>A (p.Val1498Glu)
c.5099T>A (p.Val1700Glu)
n.106T>A
15g.84863634T>CCA393363944ALPK3c.4493T>C (p.Val1498Ala)
c.5099T>C (p.Val1700Ala)
n.106T>C
15g.84863634T>GCA393363946ALPK3c.4493T>G (p.Val1498Gly)
c.5099T>G (p.Val1700Gly)
n.106T>G
15g.84863634dupCA2573151214ALPK3c.4493dup (p.Pro1499AlafsTer2)
c.5099dup (p.Pro1701AlafsTer2)
n.106dup
ClinVar dbSNP
15g.84863635G>ACA492010597ALPK3c.4494G>A (p.Val1498=)
c.5100G>A (p.Val1700=)
n.107G>A
dbSNP
15g.84863635G>CCA492010598ALPK3c.4494G>C (p.Val1498=)
c.5100G>C (p.Val1700=)
n.107G>C
15g.84863635G=CA2192381575ALPK3c.4494G= (p.Val1498=)
c.5100G= (p.Val1700=)
n.107G=
15g.84863635G>TCA492010599ALPK3c.4494G>T (p.Val1498=)
c.5100G>T (p.Val1700=)
n.107G>T
15g.84863636C>ACA393363947ALPK3c.4495C>A (p.Pro1499Thr)
c.5101C>A (p.Pro1701Thr)
n.108C>A
gnomAD v4
15g.84863636C>GCA393363951ALPK3c.4495C>G (p.Pro1499Ala)
c.5101C>G (p.Pro1701Ala)
n.108C>G
15g.84863636C>TCA393363949ALPK3c.4495C>T (p.Pro1499Ser)
c.5101C>T (p.Pro1701Ser)
n.108C>T
15g.84863637C>ACA393363953ALPK3c.4496C>A (p.Pro1499His)
c.5102C>A (p.Pro1701His)
n.109C>A
15g.84863637C=CA2192381577ALPK3c.4496C= (p.Pro1499=)
c.5102C= (p.Pro1701=)
n.109C=
15g.84863637C>GCA393363955ALPK3c.4496C>G (p.Pro1499Arg)
c.5102C>G (p.Pro1701Arg)
n.109C>G
15g.84863637C>TCA7709987ALPK3c.4496C>T (p.Pro1499Leu)
c.5102C>T (p.Pro1701Leu)
n.109C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863638T>ACA492010602ALPK3c.4497T>A (p.Pro1499=)
c.5103T>A (p.Pro1701=)
n.110T>A
ClinVar
15g.84863638T>CCA492010603ALPK3c.4497T>C (p.Pro1499=)
c.5103T>C (p.Pro1701=)
n.110T>C
dbSNP gnomAD v2 gnomAD v4
15g.84863638T>GCA492010604ALPK3c.4497T>G (p.Pro1499=)
c.5103T>G (p.Pro1701=)
n.110T>G
15g.84863638T=CA2192381581ALPK3c.4497T= (p.Pro1499=)
c.5103T= (p.Pro1701=)
n.110T=
15g.84863639G>ACA393363958ALPK3c.4498G>A (p.Glu1500Lys)
c.5104G>A (p.Glu1702Lys)
n.111G>A
15g.84863639G>CCA393363960ALPK3c.4498G>C (p.Glu1500Gln)
c.5104G>C (p.Glu1702Gln)
n.111G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.84863639G=CA2192381583ALPK3c.4498G= (p.Glu1500=)
c.5104G= (p.Glu1702=)
n.111G=
15g.84863639G>TCA393363962ALPK3c.4498G>T (p.Glu1500Ter)
c.5104G>T (p.Glu1702Ter)
n.111G>T
15g.84863640A>CCA393363965ALPK3c.4499A>C (p.Glu1500Ala)
c.5105A>C (p.Glu1702Ala)
n.112A>C
15g.84863640A>GCA393363967ALPK3c.4499A>G (p.Glu1500Gly)
c.5105A>G (p.Glu1702Gly)
n.112A>G
15g.84863640A>TCA393363968ALPK3c.4499A>T (p.Glu1500Val)
c.5105A>T (p.Glu1702Val)
n.112A>T
15g.84863641G>ACA393363970ALPK3c.4499+1G>A (n.4499+1G>A)
c.5105+1G>A (n.5105+1G>A)
n.112+1G>A
ClinVar
15g.84863641G>CCA393363972ALPK3c.4499+1G>C (n.4499+1G>C)
c.5105+1G>C (n.5105+1G>C)
n.112+1G>C
15g.84863641G=CA2192381587ALPK3c.4499+1G= (n.4499+1G=)
c.5105+1G= (n.5105+1G=)
n.112+1G=
15g.84863641G>TCA393363973ALPK3c.4499+1G>T (n.4499+1G>T)
c.5105+1G>T (n.5105+1G>T)
n.112+1G>T
15g.84863642T>ACA393363976ALPK3c.4499+2T>A (n.4499+2T>A)
c.5105+2T>A (n.5105+2T>A)
n.112+2T>A
15g.84863642T>CCA393363980ALPK3c.4499+2T>C (n.4499+2T>C)
c.5105+2T>C (n.5105+2T>C)
n.112+2T>C
15g.84863642T>GCA393363978ALPK3c.4499+2T>G (n.4499+2T>G)
c.5105+2T>G (n.5105+2T>G)
n.112+2T>G
15g.84863642dupCA7709988ALPK3c.4499+2dup (n.4499+2dup)
c.5105+2dup (n.5105+2dup)
n.112+2dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.84863643A=CA2192381601ALPK3c.4499+3A= (n.4499+3A=)
c.5105+3A= (n.5105+3A=)
n.112+3A=
15g.84863643A>GCA619447479ALPK3c.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
15g.84863645G>CCA16607893ALPK3c.4499+5G>C (n.4499+5G>C)
c.5105+5G>C (n.5105+5G>C)
n.112+5G>C
ClinVar dbSNP gnomAD v4
15g.84863645G=CA2192381605ALPK3c.4499+5G= (n.4499+5G=)
c.5105+5G= (n.5105+5G=)
n.112+5G=
15g.84863647A>GCA2630115680ALPK3c.4499+7A>G (n.4499+7A>G)
c.5105+7A>G (n.5105+7A>G)
n.112+7A>G
gnomAD v4
15g.84863648C>ACA2630115689ALPK3c.4499+8C>A (n.4499+8C>A)
c.5105+8C>A (n.5105+8C>A)
n.112+8C>A
gnomAD v4
15g.84863648C=CA2192381610ALPK3c.4499+8C= (n.4499+8C=)
c.5105+8C= (n.5105+8C=)
n.112+8C=
15g.84863648C>TCA7709989ALPK3c.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
15g.84863649G>ACA7709991ALPK3c.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
15g.84863649G=CA2192381616ALPK3c.4499+9G= (n.4499+9G=)
c.5105+9G= (n.5105+9G=)
n.112+9G=
15g.84863649G>TCA7709990ALPK3c.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
15g.84863650C>ACA619447485ALPK3c.4499+10C>A (n.4499+10C>A)
c.5105+10C>A (n.5105+10C>A)
n.112+10C>A
dbSNP gnomAD v2
15g.84863650C=CA2192381617ALPK3c.4499+10C= (n.4499+10C=)
c.5105+10C= (n.5105+10C=)
n.112+10C=
15g.84863652G>TCA2575820621ALPK3c.4499+12G>T (n.4499+12G>T)
c.5105+12G>T (n.5105+12G>T)
n.112+12G>T
ClinVar
15g.84863653C>ACA2630115702ALPK3c.4499+13C>A (n.4499+13C>A)
c.5105+13C>A (n.5105+13C>A)
n.112+13C>A
gnomAD v4
15g.84863653C=CA2192381620ALPK3c.4499+13C= (n.4499+13C=)
c.5105+13C= (n.5105+13C=)
n.112+13C=
15g.84863653C>GCA716488362ALPK3c.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
15g.84863653C>TCA7709992ALPK3c.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
15g.84863654G>ACA7709993ALPK3c.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
15g.84863654G=CA2192381628ALPK3c.4499+14G= (n.4499+14G=)
c.5105+14G= (n.5105+14G=)
n.112+14G=
15g.84863654G>TCA7709994ALPK3c.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
15g.84863659_84863661delCA2630115706ALPK3c.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

Number of alleles fetched