Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189864184_189864245dupCA2669041931TP63c.580-48_593dup
c.298-48_311dup
c.514-48_527dup
c.43-48_56dup
n.404-48_417dup
c.529-48_542dup
c.577-48_590dup
c.574-48_587dup
c.541-48_554dup
 gnomAD v4
3g.189864187G>ACA1428525375TP63c.580-45G>A (n.580-45G>A)
c.298-45G>A (n.298-45G>A)
c.514-45G>A (n.514-45G>A)
c.43-45G>A (n.43-45G>A)
n.404-45G>A
c.529-45G>A (n.529-45G>A)
c.577-45G>A (n.577-45G>A)
c.574-45G>A (n.574-45G>A)
c.541-45G>A (n.541-45G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.189864187G>CCA1428525376TP63c.580-45G>C (n.580-45G>C)
c.298-45G>C (n.298-45G>C)
c.514-45G>C (n.514-45G>C)
c.43-45G>C (n.43-45G>C)
n.404-45G>C
c.529-45G>C (n.529-45G>C)
c.577-45G>C (n.577-45G>C)
c.574-45G>C (n.574-45G>C)
c.541-45G>C (n.541-45G>C)
 dbSNP
3g.189864187G=CA1428525374TP63c.580-45G= (n.580-45G=)
c.298-45G= (n.298-45G=)
c.514-45G= (n.514-45G=)
c.43-45G= (n.43-45G=)
n.404-45G=
c.529-45G= (n.529-45G=)
c.577-45G= (n.577-45G=)
c.574-45G= (n.574-45G=)
c.541-45G= (n.541-45G=)
3g.189864188T>CCA548483401TP63c.580-44T>C (n.580-44T>C)
c.298-44T>C (n.298-44T>C)
c.514-44T>C (n.514-44T>C)
c.43-44T>C (n.43-44T>C)
n.404-44T>C
c.529-44T>C (n.529-44T>C)
c.577-44T>C (n.577-44T>C)
c.574-44T>C (n.574-44T>C)
c.541-44T>C (n.541-44T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.189864188T=CA1428525377TP63c.580-44T= (n.580-44T=)
c.298-44T= (n.298-44T=)
c.514-44T= (n.514-44T=)
c.43-44T= (n.43-44T=)
n.404-44T=
c.529-44T= (n.529-44T=)
c.577-44T= (n.577-44T=)
c.574-44T= (n.574-44T=)
c.541-44T= (n.541-44T=)
3g.189864189T>CCA2669041933TP63c.580-43T>C (n.580-43T>C)
c.298-43T>C (n.298-43T>C)
c.514-43T>C (n.514-43T>C)
c.43-43T>C (n.43-43T>C)
n.404-43T>C
c.529-43T>C (n.529-43T>C)
c.577-43T>C (n.577-43T>C)
c.574-43T>C (n.574-43T>C)
c.541-43T>C (n.541-43T>C)
 gnomAD v4
3g.189864191G>ACA548483402TP63c.580-41G>A (n.580-41G>A)
c.298-41G>A (n.298-41G>A)
c.514-41G>A (n.514-41G>A)
c.43-41G>A (n.43-41G>A)
n.404-41G>A
c.529-41G>A (n.529-41G>A)
c.577-41G>A (n.577-41G>A)
c.574-41G>A (n.574-41G>A)
c.541-41G>A (n.541-41G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.189864191G>CCA2669041934TP63c.580-41G>C (n.580-41G>C)
c.298-41G>C (n.298-41G>C)
c.514-41G>C (n.514-41G>C)
c.43-41G>C (n.43-41G>C)
n.404-41G>C
c.529-41G>C (n.529-41G>C)
c.577-41G>C (n.577-41G>C)
c.574-41G>C (n.574-41G>C)
c.541-41G>C (n.541-41G>C)
 gnomAD v4
3g.189864191G=CA1428525378TP63c.580-41G= (n.580-41G=)
c.298-41G= (n.298-41G=)
c.514-41G= (n.514-41G=)
c.43-41G= (n.43-41G=)
n.404-41G=
c.529-41G= (n.529-41G=)
c.577-41G= (n.577-41G=)
c.574-41G= (n.574-41G=)
c.541-41G= (n.541-41G=)
3g.189864191G>TCA2577989811TP63c.580-41G>T (n.580-41G>T)
c.298-41G>T (n.298-41G>T)
c.514-41G>T (n.514-41G>T)
c.43-41G>T (n.43-41G>T)
n.404-41G>T
c.529-41G>T (n.529-41G>T)
c.577-41G>T (n.577-41G>T)
c.574-41G>T (n.574-41G>T)
c.541-41G>T (n.541-41G>T)
 gnomAD v4
3g.189864192T>ACA2606949094TP63c.580-40T>A (n.580-40T>A)
c.298-40T>A (n.298-40T>A)
c.514-40T>A (n.514-40T>A)
c.43-40T>A (n.43-40T>A)
n.404-40T>A
c.529-40T>A (n.529-40T>A)
c.577-40T>A (n.577-40T>A)
c.574-40T>A (n.574-40T>A)
c.541-40T>A (n.541-40T>A)
 gnomAD v3 gnomAD v4
3g.189864192T>CCA548483403TP63c.580-40T>C (n.580-40T>C)
c.298-40T>C (n.298-40T>C)
c.514-40T>C (n.514-40T>C)
c.43-40T>C (n.43-40T>C)
n.404-40T>C
c.529-40T>C (n.529-40T>C)
c.577-40T>C (n.577-40T>C)
c.574-40T>C (n.574-40T>C)
c.541-40T>C (n.541-40T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.189864192T>GCA2669041935TP63c.580-40T>G (n.580-40T>G)
c.298-40T>G (n.298-40T>G)
c.514-40T>G (n.514-40T>G)
c.43-40T>G (n.43-40T>G)
n.404-40T>G
c.529-40T>G (n.529-40T>G)
c.577-40T>G (n.577-40T>G)
c.574-40T>G (n.574-40T>G)
c.541-40T>G (n.541-40T>G)
 gnomAD v4
3g.189864192T=CA1428525379TP63c.580-40T= (n.580-40T=)
c.298-40T= (n.298-40T=)
c.514-40T= (n.514-40T=)
c.43-40T= (n.43-40T=)
n.404-40T=
c.529-40T= (n.529-40T=)
c.577-40T= (n.577-40T=)
c.574-40T= (n.574-40T=)
c.541-40T= (n.541-40T=)
3g.189864193T>GCA1057637874TP63c.580-39T>G (n.580-39T>G)
c.298-39T>G (n.298-39T>G)
c.514-39T>G (n.514-39T>G)
c.43-39T>G (n.43-39T>G)
n.404-39T>G
c.529-39T>G (n.529-39T>G)
c.577-39T>G (n.577-39T>G)
c.574-39T>G (n.574-39T>G)
c.541-39T>G (n.541-39T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.189864193T=CA1428525380TP63c.580-39T= (n.580-39T=)
c.298-39T= (n.298-39T=)
c.514-39T= (n.514-39T=)
c.43-39T= (n.43-39T=)
n.404-39T=
c.529-39T= (n.529-39T=)
c.577-39T= (n.577-39T=)
c.574-39T= (n.574-39T=)
c.541-39T= (n.541-39T=)
3g.189864194C=CA1428525381TP63c.580-38C= (n.580-38C=)
c.298-38C= (n.298-38C=)
c.514-38C= (n.514-38C=)
c.43-38C= (n.43-38C=)
n.404-38C=
c.529-38C= (n.529-38C=)
c.577-38C= (n.577-38C=)
c.574-38C= (n.574-38C=)
c.541-38C= (n.541-38C=)
3g.189864194C>GCA2577989812TP63c.580-38C>G (n.580-38C>G)
c.298-38C>G (n.298-38C>G)
c.514-38C>G (n.514-38C>G)
c.43-38C>G (n.43-38C>G)
n.404-38C>G
c.529-38C>G (n.529-38C>G)
c.577-38C>G (n.577-38C>G)
c.574-38C>G (n.574-38C>G)
c.541-38C>G (n.541-38C>G)
 gnomAD v4
3g.189864194C>TCA2752205TP63c.580-38C>T (n.580-38C>T)
c.298-38C>T (n.298-38C>T)
c.514-38C>T (n.514-38C>T)
c.43-38C>T (n.43-38C>T)
n.404-38C>T
c.529-38C>T (n.529-38C>T)
c.577-38C>T (n.577-38C>T)
c.574-38C>T (n.574-38C>T)
c.541-38C>T (n.541-38C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864195T>ACA2669041936TP63c.580-37T>A (n.580-37T>A)
c.298-37T>A (n.298-37T>A)
c.514-37T>A (n.514-37T>A)
c.43-37T>A (n.43-37T>A)
n.404-37T>A
c.529-37T>A (n.529-37T>A)
c.577-37T>A (n.577-37T>A)
c.574-37T>A (n.574-37T>A)
c.541-37T>A (n.541-37T>A)
 gnomAD v4
3g.189864196C>ACA2503796719TP63c.580-36C>A (n.580-36C>A)
c.298-36C>A (n.298-36C>A)
c.514-36C>A (n.514-36C>A)
c.43-36C>A (n.43-36C>A)
n.404-36C>A
c.529-36C>A (n.529-36C>A)
c.577-36C>A (n.577-36C>A)
c.574-36C>A (n.574-36C>A)
c.541-36C>A (n.541-36C>A)
3g.189864196C=CA1428525382TP63c.580-36C= (n.580-36C=)
c.298-36C= (n.298-36C=)
c.514-36C= (n.514-36C=)
c.43-36C= (n.43-36C=)
n.404-36C=
c.529-36C= (n.529-36C=)
c.577-36C= (n.577-36C=)
c.574-36C= (n.574-36C=)
c.541-36C= (n.541-36C=)
3g.189864196C>GCA548483404TP63c.580-36C>G (n.580-36C>G)
c.298-36C>G (n.298-36C>G)
c.514-36C>G (n.514-36C>G)
c.43-36C>G (n.43-36C>G)
n.404-36C>G
c.529-36C>G (n.529-36C>G)
c.577-36C>G (n.577-36C>G)
c.574-36C>G (n.574-36C>G)
c.541-36C>G (n.541-36C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.189864196_189864199delCA2669041937TP63c.580-36_580-33del (n.580-36_580-33del)
c.298-36_298-33del (n.298-36_298-33del)
c.514-36_514-33del (n.514-36_514-33del)
c.43-36_43-33del (n.43-36_43-33del)
n.404-36_404-33del
c.529-36_529-33del (n.529-36_529-33del)
c.577-36_577-33del (n.577-36_577-33del)
c.574-36_574-33del (n.574-36_574-33del)
c.541-36_541-33del (n.541-36_541-33del)
 gnomAD v4
3g.189864198C>GCA2577989813TP63c.580-34C>G (n.580-34C>G)
c.298-34C>G (n.298-34C>G)
c.514-34C>G (n.514-34C>G)
c.43-34C>G (n.43-34C>G)
n.404-34C>G
c.529-34C>G (n.529-34C>G)
c.577-34C>G (n.577-34C>G)
c.574-34C>G (n.574-34C>G)
c.541-34C>G (n.541-34C>G)
 gnomAD v4
3g.189864198C>TCA2704922174TP63c.580-34C>T (n.580-34C>T)
c.298-34C>T (n.298-34C>T)
c.514-34C>T (n.514-34C>T)
c.43-34C>T (n.43-34C>T)
n.404-34C>T
c.529-34C>T (n.529-34C>T)
c.577-34C>T (n.577-34C>T)
c.574-34C>T (n.574-34C>T)
c.541-34C>T (n.541-34C>T)
 dbSNP
3g.189864199C=CA1428525383TP63c.580-33C= (n.580-33C=)
c.298-33C= (n.298-33C=)
c.514-33C= (n.514-33C=)
c.43-33C= (n.43-33C=)
n.404-33C=
c.529-33C= (n.529-33C=)
c.577-33C= (n.577-33C=)
c.574-33C= (n.574-33C=)
c.541-33C= (n.541-33C=)
3g.189864199C>GCA2577989814TP63c.580-33C>G (n.580-33C>G)
c.298-33C>G (n.298-33C>G)
c.514-33C>G (n.514-33C>G)
c.43-33C>G (n.43-33C>G)
n.404-33C>G
c.529-33C>G (n.529-33C>G)
c.577-33C>G (n.577-33C>G)
c.574-33C>G (n.574-33C>G)
c.541-33C>G (n.541-33C>G)
 gnomAD v4
3g.189864199C>TCA548483405TP63c.580-33C>T (n.580-33C>T)
c.298-33C>T (n.298-33C>T)
c.514-33C>T (n.514-33C>T)
c.43-33C>T (n.43-33C>T)
n.404-33C>T
c.529-33C>T (n.529-33C>T)
c.577-33C>T (n.577-33C>T)
c.574-33C>T (n.574-33C>T)
c.541-33C>T (n.541-33C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.189864203C>TCA2669041938TP63c.580-29C>T (n.580-29C>T)
c.298-29C>T (n.298-29C>T)
c.514-29C>T (n.514-29C>T)
c.43-29C>T (n.43-29C>T)
n.404-29C>T
c.529-29C>T (n.529-29C>T)
c.577-29C>T (n.577-29C>T)
c.574-29C>T (n.574-29C>T)
c.541-29C>T (n.541-29C>T)
 gnomAD v4
3g.189864207delCA2577989815TP63c.580-25del (n.580-25del)
c.298-25del (n.298-25del)
c.514-25del (n.514-25del)
c.43-25del (n.43-25del)
n.404-25del
c.529-25del (n.529-25del)
c.577-25del (n.577-25del)
c.574-25del (n.574-25del)
c.541-25del (n.541-25del)
3g.189864207C>TCA2669041940TP63c.580-25C>T (n.580-25C>T)
c.298-25C>T (n.298-25C>T)
c.514-25C>T (n.514-25C>T)
c.43-25C>T (n.43-25C>T)
n.404-25C>T
c.529-25C>T (n.529-25C>T)
c.577-25C>T (n.577-25C>T)
c.574-25C>T (n.574-25C>T)
c.541-25C>T (n.541-25C>T)
 gnomAD v4
3g.189864208T>ACA2752206TP63c.580-24T>A (n.580-24T>A)
c.298-24T>A (n.298-24T>A)
c.514-24T>A (n.514-24T>A)
c.43-24T>A (n.43-24T>A)
n.404-24T>A
c.529-24T>A (n.529-24T>A)
c.577-24T>A (n.577-24T>A)
c.574-24T>A (n.574-24T>A)
c.541-24T>A (n.541-24T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864208T=CA1428525384TP63c.580-24T= (n.580-24T=)
c.298-24T= (n.298-24T=)
c.514-24T= (n.514-24T=)
c.43-24T= (n.43-24T=)
n.404-24T=
c.529-24T= (n.529-24T=)
c.577-24T= (n.577-24T=)
c.574-24T= (n.574-24T=)
c.541-24T= (n.541-24T=)
3g.189864209C=CA1428525385TP63c.580-23C= (n.580-23C=)
c.298-23C= (n.298-23C=)
c.514-23C= (n.514-23C=)
c.43-23C= (n.43-23C=)
n.404-23C=
c.529-23C= (n.529-23C=)
c.577-23C= (n.577-23C=)
c.574-23C= (n.574-23C=)
c.541-23C= (n.541-23C=)
3g.189864209C>GCA2752207TP63c.580-23C>G (n.580-23C>G)
c.298-23C>G (n.298-23C>G)
c.514-23C>G (n.514-23C>G)
c.43-23C>G (n.43-23C>G)
n.404-23C>G
c.529-23C>G (n.529-23C>G)
c.577-23C>G (n.577-23C>G)
c.574-23C>G (n.574-23C>G)
c.541-23C>G (n.541-23C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864209C>TCA89741910TP63c.580-23C>T (n.580-23C>T)
c.298-23C>T (n.298-23C>T)
c.514-23C>T (n.514-23C>T)
c.43-23C>T (n.43-23C>T)
n.404-23C>T
c.529-23C>T (n.529-23C>T)
c.577-23C>T (n.577-23C>T)
c.574-23C>T (n.574-23C>T)
c.541-23C>T (n.541-23C>T)
 dbSNP gnomAD v4
3g.189864210C>TCA2669041941TP63c.580-22C>T (n.580-22C>T)
c.298-22C>T (n.298-22C>T)
c.514-22C>T (n.514-22C>T)
c.43-22C>T (n.43-22C>T)
n.404-22C>T
c.529-22C>T (n.529-22C>T)
c.577-22C>T (n.577-22C>T)
c.574-22C>T (n.574-22C>T)
c.541-22C>T (n.541-22C>T)
 gnomAD v4
3g.189864211A=CA1428525386TP63c.580-21A= (n.580-21A=)
c.298-21A= (n.298-21A=)
c.514-21A= (n.514-21A=)
c.43-21A= (n.43-21A=)
n.404-21A=
c.529-21A= (n.529-21A=)
c.577-21A= (n.577-21A=)
c.574-21A= (n.574-21A=)
c.541-21A= (n.541-21A=)
3g.189864211A>GCA548483406TP63c.580-21A>G (n.580-21A>G)
c.298-21A>G (n.298-21A>G)
c.514-21A>G (n.514-21A>G)
c.43-21A>G (n.43-21A>G)
n.404-21A>G
c.529-21A>G (n.529-21A>G)
c.577-21A>G (n.577-21A>G)
c.574-21A>G (n.574-21A>G)
c.541-21A>G (n.541-21A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864213T>ACA2759859263TP63c.580-19T>A (n.580-19T>A)
c.298-19T>A (n.298-19T>A)
c.514-19T>A (n.514-19T>A)
c.43-19T>A (n.43-19T>A)
n.404-19T>A
c.529-19T>A (n.529-19T>A)
c.577-19T>A (n.577-19T>A)
c.574-19T>A (n.574-19T>A)
c.541-19T>A (n.541-19T>A)
3g.189864213T>GCA89741915TP63c.580-19T>G (n.580-19T>G)
c.298-19T>G (n.298-19T>G)
c.514-19T>G (n.514-19T>G)
c.43-19T>G (n.43-19T>G)
n.404-19T>G
c.529-19T>G (n.529-19T>G)
c.577-19T>G (n.577-19T>G)
c.574-19T>G (n.574-19T>G)
c.541-19T>G (n.541-19T>G)
 dbSNP
3g.189864213T=CA1428525387TP63c.580-19T= (n.580-19T=)
c.298-19T= (n.298-19T=)
c.514-19T= (n.514-19T=)
c.43-19T= (n.43-19T=)
n.404-19T=
c.529-19T= (n.529-19T=)
c.577-19T= (n.577-19T=)
c.574-19T= (n.574-19T=)
c.541-19T= (n.541-19T=)
3g.189864214G>TCA2577989816TP63c.580-18G>T (n.580-18G>T)
c.298-18G>T (n.298-18G>T)
c.514-18G>T (n.514-18G>T)
c.43-18G>T (n.43-18G>T)
n.404-18G>T
c.529-18G>T (n.529-18G>T)
c.577-18G>T (n.577-18G>T)
c.574-18G>T (n.574-18G>T)
c.541-18G>T (n.541-18G>T)
3g.189864215G>ACA2669041942TP63c.580-17G>A (n.580-17G>A)
c.298-17G>A (n.298-17G>A)
c.514-17G>A (n.514-17G>A)
c.43-17G>A (n.43-17G>A)
n.404-17G>A
c.529-17G>A (n.529-17G>A)
c.577-17G>A (n.577-17G>A)
c.574-17G>A (n.574-17G>A)
c.541-17G>A (n.541-17G>A)
 gnomAD v4
3g.189864215G=CA1428525388TP63c.580-17G= (n.580-17G=)
c.298-17G= (n.298-17G=)
c.514-17G= (n.514-17G=)
c.43-17G= (n.43-17G=)
n.404-17G=
c.529-17G= (n.529-17G=)
c.577-17G= (n.577-17G=)
c.574-17G= (n.574-17G=)
c.541-17G= (n.541-17G=)
3g.189864215G>TCA648070081TP63c.580-17G>T (n.580-17G>T)
c.298-17G>T (n.298-17G>T)
c.514-17G>T (n.514-17G>T)
c.43-17G>T (n.43-17G>T)
n.404-17G>T
c.529-17G>T (n.529-17G>T)
c.577-17G>T (n.577-17G>T)
c.574-17G>T (n.574-17G>T)
c.541-17G>T (n.541-17G>T)
 ClinVar dbSNP COSMIC
3g.189864216C>TCA2577989817TP63c.580-16C>T (n.580-16C>T)
c.298-16C>T (n.298-16C>T)
c.514-16C>T (n.514-16C>T)
c.43-16C>T (n.43-16C>T)
n.404-16C>T
c.529-16C>T (n.529-16C>T)
c.577-16C>T (n.577-16C>T)
c.574-16C>T (n.574-16C>T)
c.541-16C>T (n.541-16C>T)
3g.189864217C=CA1428525389TP63c.580-15C= (n.580-15C=)
c.298-15C= (n.298-15C=)
c.514-15C= (n.514-15C=)
c.43-15C= (n.43-15C=)
n.404-15C=
c.529-15C= (n.529-15C=)
c.577-15C= (n.577-15C=)
c.574-15C= (n.574-15C=)
c.541-15C= (n.541-15C=)
3g.189864217C>TCA1428525390TP63c.580-15C>T (n.580-15C>T)
c.298-15C>T (n.298-15C>T)
c.514-15C>T (n.514-15C>T)
c.43-15C>T (n.43-15C>T)
n.404-15C>T
c.529-15C>T (n.529-15C>T)
c.577-15C>T (n.577-15C>T)
c.574-15C>T (n.574-15C>T)
c.541-15C>T (n.541-15C>T)
 dbSNP gnomAD v4
3g.189864218C>ACA1428525393TP63c.580-14C>A (n.580-14C>A)
c.298-14C>A (n.298-14C>A)
c.514-14C>A (n.514-14C>A)
c.43-14C>A (n.43-14C>A)
n.404-14C>A
c.529-14C>A (n.529-14C>A)
c.577-14C>A (n.577-14C>A)
c.574-14C>A (n.574-14C>A)
c.541-14C>A (n.541-14C>A)
 dbSNP
3g.189864218C=CA1428525391TP63c.580-14C= (n.580-14C=)
c.298-14C= (n.298-14C=)
c.514-14C= (n.514-14C=)
c.43-14C= (n.43-14C=)
n.404-14C=
c.529-14C= (n.529-14C=)
c.577-14C= (n.577-14C=)
c.574-14C= (n.574-14C=)
c.541-14C= (n.541-14C=)
3g.189864218C>GCA1428525392TP63c.580-14C>G (n.580-14C>G)
c.298-14C>G (n.298-14C>G)
c.514-14C>G (n.514-14C>G)
c.43-14C>G (n.43-14C>G)
n.404-14C>G
c.529-14C>G (n.529-14C>G)
c.577-14C>G (n.577-14C>G)
c.574-14C>G (n.574-14C>G)
c.541-14C>G (n.541-14C>G)
 dbSNP
3g.189864218C>TCA2669041943TP63c.580-14C>T (n.580-14C>T)
c.298-14C>T (n.298-14C>T)
c.514-14C>T (n.514-14C>T)
c.43-14C>T (n.43-14C>T)
n.404-14C>T
c.529-14C>T (n.529-14C>T)
c.577-14C>T (n.577-14C>T)
c.574-14C>T (n.574-14C>T)
c.541-14C>T (n.541-14C>T)
 gnomAD v4
3g.189864219C=CA1428525394TP63c.580-13C= (n.580-13C=)
c.298-13C= (n.298-13C=)
c.514-13C= (n.514-13C=)
c.43-13C= (n.43-13C=)
n.404-13C=
c.529-13C= (n.529-13C=)
c.577-13C= (n.577-13C=)
c.574-13C= (n.574-13C=)
c.541-13C= (n.541-13C=)
3g.189864219C>TCA548483407TP63c.580-13C>T (n.580-13C>T)
c.298-13C>T (n.298-13C>T)
c.514-13C>T (n.514-13C>T)
c.43-13C>T (n.43-13C>T)
n.404-13C>T
c.529-13C>T (n.529-13C>T)
c.577-13C>T (n.577-13C>T)
c.574-13C>T (n.574-13C>T)
c.541-13C>T (n.541-13C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.189864220A=CA1428525395TP63c.580-12A= (n.580-12A=)
c.298-12A= (n.298-12A=)
c.514-12A= (n.514-12A=)
c.43-12A= (n.43-12A=)
n.404-12A=
c.529-12A= (n.529-12A=)
c.577-12A= (n.577-12A=)
c.574-12A= (n.574-12A=)
c.541-12A= (n.541-12A=)
3g.189864220A>GCA548483408TP63c.580-12A>G (n.580-12A>G)
c.298-12A>G (n.298-12A>G)
c.514-12A>G (n.514-12A>G)
c.43-12A>G (n.43-12A>G)
n.404-12A>G
c.529-12A>G (n.529-12A>G)
c.577-12A>G (n.577-12A>G)
c.574-12A>G (n.574-12A>G)
c.541-12A>G (n.541-12A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.189864221A=CA1428525396TP63c.580-11A= (n.580-11A=)
c.298-11A= (n.298-11A=)
c.514-11A= (n.514-11A=)
c.43-11A= (n.43-11A=)
n.404-11A=
c.529-11A= (n.529-11A=)
c.577-11A= (n.577-11A=)
c.574-11A= (n.574-11A=)
c.541-11A= (n.541-11A=)
3g.189864221A>TCA2752208TP63c.580-11A>T (n.580-11A>T)
c.298-11A>T (n.298-11A>T)
c.514-11A>T (n.514-11A>T)
c.43-11A>T (n.43-11A>T)
n.404-11A>T
c.529-11A>T (n.529-11A>T)
c.577-11A>T (n.577-11A>T)
c.574-11A>T (n.574-11A>T)
c.541-11A>T (n.541-11A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864222C>TCA2669041944TP63c.580-10C>T (n.580-10C>T)
c.298-10C>T (n.298-10C>T)
c.514-10C>T (n.514-10C>T)
c.43-10C>T (n.43-10C>T)
n.404-10C>T
c.529-10C>T (n.529-10C>T)
c.577-10C>T (n.577-10C>T)
c.574-10C>T (n.574-10C>T)
c.541-10C>T (n.541-10C>T)
 gnomAD v4
3g.189864223T>CCA1057637878TP63c.580-9T>C (n.580-9T>C)
c.298-9T>C (n.298-9T>C)
c.514-9T>C (n.514-9T>C)
c.43-9T>C (n.43-9T>C)
n.404-9T>C
c.529-9T>C (n.529-9T>C)
c.577-9T>C (n.577-9T>C)
c.574-9T>C (n.574-9T>C)
c.541-9T>C (n.541-9T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.189864223T=CA1428525397TP63c.580-9T= (n.580-9T=)
c.298-9T= (n.298-9T=)
c.514-9T= (n.514-9T=)
c.43-9T= (n.43-9T=)
n.404-9T=
c.529-9T= (n.529-9T=)
c.577-9T= (n.577-9T=)
c.574-9T= (n.574-9T=)
c.541-9T= (n.541-9T=)
3g.189864224C=CA1428525398TP63c.580-8C= (n.580-8C=)
c.298-8C= (n.298-8C=)
c.514-8C= (n.514-8C=)
c.43-8C= (n.43-8C=)
n.404-8C=
c.529-8C= (n.529-8C=)
c.577-8C= (n.577-8C=)
c.574-8C= (n.574-8C=)
c.541-8C= (n.541-8C=)
3g.189864224C>GCA1428525399TP63c.580-8C>G (n.580-8C>G)
c.298-8C>G (n.298-8C>G)
c.514-8C>G (n.514-8C>G)
c.43-8C>G (n.43-8C>G)
n.404-8C>G
c.529-8C>G (n.529-8C>G)
c.577-8C>G (n.577-8C>G)
c.574-8C>G (n.574-8C>G)
c.541-8C>G (n.541-8C>G)
 dbSNP
3g.189864224C>TCA2752209TP63c.580-8C>T (n.580-8C>T)
c.298-8C>T (n.298-8C>T)
c.514-8C>T (n.514-8C>T)
c.43-8C>T (n.43-8C>T)
n.404-8C>T
c.529-8C>T (n.529-8C>T)
c.577-8C>T (n.577-8C>T)
c.574-8C>T (n.574-8C>T)
c.541-8C>T (n.541-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864229C=CA1428525400TP63c.580-3C= (n.580-3C=)
c.298-3C= (n.298-3C=)
c.514-3C= (n.514-3C=)
c.43-3C= (n.43-3C=)
n.404-3C=
c.529-3C= (n.529-3C=)
c.577-3C= (n.577-3C=)
c.574-3C= (n.574-3C=)
c.541-3C= (n.541-3C=)
3g.189864229C>GCA2695199348TP63c.580-3C>G (n.580-3C>G)
c.298-3C>G (n.298-3C>G)
c.514-3C>G (n.514-3C>G)
c.43-3C>G (n.43-3C>G)
n.404-3C>G
c.529-3C>G (n.529-3C>G)
c.577-3C>G (n.577-3C>G)
c.574-3C>G (n.574-3C>G)
c.541-3C>G (n.541-3C>G)
 ClinVar
3g.189864229C>TCA548483409TP63c.580-3C>T (n.580-3C>T)
c.298-3C>T (n.298-3C>T)
c.514-3C>T (n.514-3C>T)
c.43-3C>T (n.43-3C>T)
n.404-3C>T
c.529-3C>T (n.529-3C>T)
c.577-3C>T (n.577-3C>T)
c.574-3C>T (n.574-3C>T)
c.541-3C>T (n.541-3C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.189864230A>CCA355753096TP63c.580-2A>C (n.580-2A>C)
c.298-2A>C (n.298-2A>C)
c.514-2A>C (n.514-2A>C)
c.43-2A>C (n.43-2A>C)
n.404-2A>C
c.529-2A>C (n.529-2A>C)
c.577-2A>C (n.577-2A>C)
c.574-2A>C (n.574-2A>C)
c.541-2A>C (n.541-2A>C)
3g.189864230A>GCA355753094TP63c.580-2A>G (n.580-2A>G)
c.298-2A>G (n.298-2A>G)
c.514-2A>G (n.514-2A>G)
c.43-2A>G (n.43-2A>G)
n.404-2A>G
c.529-2A>G (n.529-2A>G)
c.577-2A>G (n.577-2A>G)
c.574-2A>G (n.574-2A>G)
c.541-2A>G (n.541-2A>G)
3g.189864230A>TCA355753093TP63c.580-2A>T (n.580-2A>T)
c.298-2A>T (n.298-2A>T)
c.514-2A>T (n.514-2A>T)
c.43-2A>T (n.43-2A>T)
n.404-2A>T
c.529-2A>T (n.529-2A>T)
c.577-2A>T (n.577-2A>T)
c.574-2A>T (n.574-2A>T)
c.541-2A>T (n.541-2A>T)
3g.189864231G>ACA355753099TP63c.580-1G>A (n.580-1G>A)
c.298-1G>A (n.298-1G>A)
c.514-1G>A (n.514-1G>A)
c.43-1G>A (n.43-1G>A)
n.404-1G>A
c.529-1G>A (n.529-1G>A)
c.577-1G>A (n.577-1G>A)
c.574-1G>A (n.574-1G>A)
c.541-1G>A (n.541-1G>A)
 dbSNP
3g.189864231G>CCA355753098TP63c.580-1G>C (n.580-1G>C)
c.298-1G>C (n.298-1G>C)
c.514-1G>C (n.514-1G>C)
c.43-1G>C (n.43-1G>C)
n.404-1G>C
c.529-1G>C (n.529-1G>C)
c.577-1G>C (n.577-1G>C)
c.574-1G>C (n.574-1G>C)
c.541-1G>C (n.541-1G>C)
3g.189864231G>TCA355753100TP63c.580-1G>T (n.580-1G>T)
c.298-1G>T (n.298-1G>T)
c.514-1G>T (n.514-1G>T)
c.43-1G>T (n.43-1G>T)
n.404-1G>T
c.529-1G>T (n.529-1G>T)
c.577-1G>T (n.577-1G>T)
c.574-1G>T (n.574-1G>T)
c.541-1G>T (n.541-1G>T)
3g.189864232T>ACA355753102TP63c.580T>A (p.Tyr194Asn)
c.298T>A (p.Tyr100Asn)
c.514T>A (p.Tyr172Asn)
c.43T>A (p.Tyr15Asn)
n.404T>A
c.529T>A (p.Tyr177Asn)
c.577T>A (p.Tyr193Asn)
c.574T>A (p.Tyr192Asn)
c.541T>A (p.Tyr181Asn)
3g.189864232T>CCA355753103TP63c.580T>C (p.Tyr194His)
c.298T>C (p.Tyr100His)
c.514T>C (p.Tyr172His)
c.43T>C (p.Tyr15His)
n.404T>C
c.529T>C (p.Tyr177His)
c.577T>C (p.Tyr193His)
c.574T>C (p.Tyr192His)
c.541T>C (p.Tyr181His)
3g.189864232T>GCA355753104TP63c.580T>G (p.Tyr194Asp)
c.298T>G (p.Tyr100Asp)
c.514T>G (p.Tyr172Asp)
c.43T>G (p.Tyr15Asp)
n.404T>G
c.529T>G (p.Tyr177Asp)
c.577T>G (p.Tyr193Asp)
c.574T>G (p.Tyr192Asp)
c.541T>G (p.Tyr181Asp)
3g.189864233A>CCA355753105TP63c.581A>C (p.Tyr194Ser)
c.299A>C (p.Tyr100Ser)
c.515A>C (p.Tyr172Ser)
c.44A>C (p.Tyr15Ser)
n.405A>C
c.530A>C (p.Tyr177Ser)
c.578A>C (p.Tyr193Ser)
c.575A>C (p.Tyr192Ser)
c.542A>C (p.Tyr181Ser)
 COSMIC COSMIC COSMIC
3g.189864233A>GCA355753106TP63c.581A>G (p.Tyr194Cys)
c.299A>G (p.Tyr100Cys)
c.515A>G (p.Tyr172Cys)
c.44A>G (p.Tyr15Cys)
n.405A>G
c.530A>G (p.Tyr177Cys)
c.578A>G (p.Tyr193Cys)
c.575A>G (p.Tyr192Cys)
c.542A>G (p.Tyr181Cys)
3g.189864233A>TCA355753108TP63c.581A>T (p.Tyr194Phe)
c.299A>T (p.Tyr100Phe)
c.515A>T (p.Tyr172Phe)
c.44A>T (p.Tyr15Phe)
n.405A>T
c.530A>T (p.Tyr177Phe)
c.578A>T (p.Tyr193Phe)
c.575A>T (p.Tyr192Phe)
c.542A>T (p.Tyr181Phe)
3g.189864234T>ACA355753112TP63c.582T>A (p.Tyr194Ter)
c.300T>A (p.Tyr100Ter)
c.516T>A (p.Tyr172Ter)
c.45T>A (p.Tyr15Ter)
n.406T>A
c.531T>A (p.Tyr177Ter)
c.579T>A (p.Tyr193Ter)
c.576T>A (p.Tyr192Ter)
c.543T>A (p.Tyr181Ter)
3g.189864234T>CCA437412844TP63c.582T>C (p.Tyr194=)
c.300T>C (p.Tyr100=)
c.516T>C (p.Tyr172=)
c.45T>C (p.Tyr15=)
n.406T>C
c.531T>C (p.Tyr177=)
c.579T>C (p.Tyr193=)
c.576T>C (p.Tyr192=)
c.543T>C (p.Tyr181=)
3g.189864234T>GCA355753110TP63c.582T>G (p.Tyr194Ter)
c.300T>G (p.Tyr100Ter)
c.516T>G (p.Tyr172Ter)
c.45T>G (p.Tyr15Ter)
n.406T>G
c.531T>G (p.Tyr177Ter)
c.579T>G (p.Tyr193Ter)
c.576T>G (p.Tyr192Ter)
c.543T>G (p.Tyr181Ter)
3g.189864235T>ACA355753113TP63c.583T>A (p.Ser195Thr)
c.301T>A (p.Ser101Thr)
c.517T>A (p.Ser173Thr)
c.46T>A (p.Ser16Thr)
n.407T>A
c.532T>A (p.Ser178Thr)
c.580T>A (p.Ser194Thr)
c.577T>A (p.Ser193Thr)
c.544T>A (p.Ser182Thr)
3g.189864235T>CCA355753114TP63c.583T>C (p.Ser195Pro)
c.301T>C (p.Ser101Pro)
c.517T>C (p.Ser173Pro)
c.46T>C (p.Ser16Pro)
n.407T>C
c.532T>C (p.Ser178Pro)
c.580T>C (p.Ser194Pro)
c.577T>C (p.Ser193Pro)
c.544T>C (p.Ser182Pro)
3g.189864235T>GCA355753116TP63c.583T>G (p.Ser195Ala)
c.301T>G (p.Ser101Ala)
c.517T>G (p.Ser173Ala)
c.46T>G (p.Ser16Ala)
n.407T>G
c.532T>G (p.Ser178Ala)
c.580T>G (p.Ser194Ala)
c.577T>G (p.Ser193Ala)
c.544T>G (p.Ser182Ala)
3g.189864236C>ACA355753118TP63c.584C>A (p.Ser195Tyr)
c.302C>A (p.Ser101Tyr)
c.518C>A (p.Ser173Tyr)
c.47C>A (p.Ser16Tyr)
n.408C>A
c.533C>A (p.Ser178Tyr)
c.581C>A (p.Ser194Tyr)
c.578C>A (p.Ser193Tyr)
c.545C>A (p.Ser182Tyr)
3g.189864236C>GCA355753119TP63c.584C>G (p.Ser195Cys)
c.302C>G (p.Ser101Cys)
c.518C>G (p.Ser173Cys)
c.47C>G (p.Ser16Cys)
n.408C>G
c.533C>G (p.Ser178Cys)
c.581C>G (p.Ser194Cys)
c.578C>G (p.Ser193Cys)
c.545C>G (p.Ser182Cys)
3g.189864236C>TCA355753121TP63c.584C>T (p.Ser195Phe)
c.302C>T (p.Ser101Phe)
c.518C>T (p.Ser173Phe)
c.47C>T (p.Ser16Phe)
n.408C>T
c.533C>T (p.Ser178Phe)
c.581C>T (p.Ser194Phe)
c.578C>T (p.Ser193Phe)
c.545C>T (p.Ser182Phe)
3g.189864237C>ACA437412845TP63c.585C>A (p.Ser195=)
c.303C>A (p.Ser101=)
c.519C>A (p.Ser173=)
c.48C>A (p.Ser16=)
n.409C>A
c.534C>A (p.Ser178=)
c.582C>A (p.Ser194=)
c.579C>A (p.Ser193=)
c.546C>A (p.Ser182=)
3g.189864237C=CA1428525401TP63c.585C= (p.Ser195=)
c.303C= (p.Ser101=)
c.519C= (p.Ser173=)
c.48C= (p.Ser16=)
n.409C=
c.534C= (p.Ser178=)
c.582C= (p.Ser194=)
c.579C= (p.Ser193=)
c.546C= (p.Ser182=)
3g.189864237C>GCA437412846TP63c.585C>G (p.Ser195=)
c.303C>G (p.Ser101=)
c.519C>G (p.Ser173=)
c.48C>G (p.Ser16=)
n.409C>G
c.534C>G (p.Ser178=)
c.582C>G (p.Ser194=)
c.579C>G (p.Ser193=)
c.546C>G (p.Ser182=)
 gnomAD v4
3g.189864237C>TCA89741933TP63c.585C>T (p.Ser195=)
c.303C>T (p.Ser101=)
c.519C>T (p.Ser173=)
c.48C>T (p.Ser16=)
n.409C>T
c.534C>T (p.Ser178=)
c.582C>T (p.Ser194=)
c.579C>T (p.Ser193=)
c.546C>T (p.Ser182=)
 dbSNP
3g.189864238A=CA1428525402TP63c.586A= (p.Thr196=)
c.304A= (p.Thr102=)
c.520A= (p.Thr174=)
c.49A= (p.Thr17=)
n.410A=
c.535A= (p.Thr179=)
c.583A= (p.Thr195=)
c.580A= (p.Thr194=)
c.547A= (p.Thr183=)
3g.189864238A>CCA355753125TP63c.586A>C (p.Thr196Pro)
c.304A>C (p.Thr102Pro)
c.520A>C (p.Thr174Pro)
c.49A>C (p.Thr17Pro)
n.410A>C
c.535A>C (p.Thr179Pro)
c.583A>C (p.Thr195Pro)
c.580A>C (p.Thr194Pro)
c.547A>C (p.Thr183Pro)
3g.189864238A>GCA2752210TP63c.586A>G (p.Thr196Ala)
c.304A>G (p.Thr102Ala)
c.520A>G (p.Thr174Ala)
c.49A>G (p.Thr17Ala)
n.410A>G
c.535A>G (p.Thr179Ala)
c.583A>G (p.Thr195Ala)
c.580A>G (p.Thr194Ala)
c.547A>G (p.Thr183Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864238A>TCA355753123TP63c.586A>T (p.Thr196Ser)
c.304A>T (p.Thr102Ser)
c.520A>T (p.Thr174Ser)
c.49A>T (p.Thr17Ser)
n.410A>T
c.535A>T (p.Thr179Ser)
c.583A>T (p.Thr195Ser)
c.580A>T (p.Thr194Ser)
c.547A>T (p.Thr183Ser)
3g.189864239C>ACA2752211TP63c.587C>A (p.Thr196Asn)
c.305C>A (p.Thr102Asn)
c.521C>A (p.Thr174Asn)
c.50C>A (p.Thr17Asn)
n.411C>A
c.536C>A (p.Thr179Asn)
c.584C>A (p.Thr195Asn)
c.581C>A (p.Thr194Asn)
c.548C>A (p.Thr183Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864239C=CA1428525403TP63c.587C= (p.Thr196=)
c.305C= (p.Thr102=)
c.521C= (p.Thr174=)
c.50C= (p.Thr17=)
n.411C=
c.536C= (p.Thr179=)
c.584C= (p.Thr195=)
c.581C= (p.Thr194=)
c.548C= (p.Thr183=)
3g.189864239C>GCA2752212TP63c.587C>G (p.Thr196Ser)
c.305C>G (p.Thr102Ser)
c.521C>G (p.Thr174Ser)
c.50C>G (p.Thr17Ser)
n.411C>G
c.536C>G (p.Thr179Ser)
c.584C>G (p.Thr195Ser)
c.581C>G (p.Thr194Ser)
c.548C>G (p.Thr183Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864239C>TCA355753127TP63c.587C>T (p.Thr196Ile)
c.305C>T (p.Thr102Ile)
c.521C>T (p.Thr174Ile)
c.50C>T (p.Thr17Ile)
n.411C>T
c.536C>T (p.Thr179Ile)
c.584C>T (p.Thr195Ile)
c.581C>T (p.Thr194Ile)
c.548C>T (p.Thr183Ile)
 gnomAD v4
3g.189864240T>ACA437412847TP63c.588T>A (p.Thr196=)
c.306T>A (p.Thr102=)
c.522T>A (p.Thr174=)
c.51T>A (p.Thr17=)
n.412T>A
c.537T>A (p.Thr179=)
c.585T>A (p.Thr195=)
c.582T>A (p.Thr194=)
c.549T>A (p.Thr183=)
3g.189864240T>CCA437412848TP63c.588T>C (p.Thr196=)
c.306T>C (p.Thr102=)
c.522T>C (p.Thr174=)
c.51T>C (p.Thr17=)
n.412T>C
c.537T>C (p.Thr179=)
c.585T>C (p.Thr195=)
c.582T>C (p.Thr194=)
c.549T>C (p.Thr183=)
 gnomAD v4
3g.189864240T>GCA437412849TP63c.588T>G (p.Thr196=)
c.306T>G (p.Thr102=)
c.522T>G (p.Thr174=)
c.51T>G (p.Thr17=)
n.412T>G
c.537T>G (p.Thr179=)
c.585T>G (p.Thr195=)
c.582T>G (p.Thr194=)
c.549T>G (p.Thr183=)
3g.189864241G>ACA355753129TP63c.589G>A (p.Glu197Lys)
c.307G>A (p.Glu103Lys)
c.523G>A (p.Glu175Lys)
c.52G>A (p.Glu18Lys)
n.413G>A
c.538G>A (p.Glu180Lys)
c.586G>A (p.Glu196Lys)
c.583G>A (p.Glu195Lys)
c.550G>A (p.Glu184Lys)
3g.189864241G>CCA355753131TP63c.589G>C (p.Glu197Gln)
c.307G>C (p.Glu103Gln)
c.523G>C (p.Glu175Gln)
c.52G>C (p.Glu18Gln)
n.413G>C
c.538G>C (p.Glu180Gln)
c.586G>C (p.Glu196Gln)
c.583G>C (p.Glu195Gln)
c.550G>C (p.Glu184Gln)
 ClinVar
3g.189864241G>TCA355753132TP63c.589G>T (p.Glu197Ter)
c.307G>T (p.Glu103Ter)
c.523G>T (p.Glu175Ter)
c.52G>T (p.Glu18Ter)
n.413G>T
c.538G>T (p.Glu180Ter)
c.586G>T (p.Glu196Ter)
c.583G>T (p.Glu195Ter)
c.550G>T (p.Glu184Ter)
3g.189864242A>CCA355753133TP63c.590A>C (p.Glu197Ala)
c.308A>C (p.Glu103Ala)
c.524A>C (p.Glu175Ala)
c.53A>C (p.Glu18Ala)
n.414A>C
c.539A>C (p.Glu180Ala)
c.587A>C (p.Glu196Ala)
c.584A>C (p.Glu195Ala)
c.551A>C (p.Glu184Ala)
3g.189864242A>GCA355753135TP63c.590A>G (p.Glu197Gly)
c.308A>G (p.Glu103Gly)
c.524A>G (p.Glu175Gly)
c.53A>G (p.Glu18Gly)
n.414A>G
c.539A>G (p.Glu180Gly)
c.587A>G (p.Glu196Gly)
c.584A>G (p.Glu195Gly)
c.551A>G (p.Glu184Gly)
 gnomAD v4
3g.189864242A>TCA355753137TP63c.590A>T (p.Glu197Val)
c.308A>T (p.Glu103Val)
c.524A>T (p.Glu175Val)
c.53A>T (p.Glu18Val)
n.414A>T
c.539A>T (p.Glu180Val)
c.587A>T (p.Glu196Val)
c.584A>T (p.Glu195Val)
c.551A>T (p.Glu184Val)
3g.189864243A>CCA355753138TP63c.591A>C (p.Glu197Asp)
c.309A>C (p.Glu103Asp)
c.525A>C (p.Glu175Asp)
c.54A>C (p.Glu18Asp)
n.415A>C
c.540A>C (p.Glu180Asp)
c.588A>C (p.Glu196Asp)
c.585A>C (p.Glu195Asp)
c.552A>C (p.Glu184Asp)
3g.189864243A>GCA437412850TP63c.591A>G (p.Glu197=)
c.309A>G (p.Glu103=)
c.525A>G (p.Glu175=)
c.54A>G (p.Glu18=)
n.415A>G
c.540A>G (p.Glu180=)
c.588A>G (p.Glu196=)
c.585A>G (p.Glu195=)
c.552A>G (p.Glu184=)
3g.189864243A>TCA355753140TP63c.591A>T (p.Glu197Asp)
c.309A>T (p.Glu103Asp)
c.525A>T (p.Glu175Asp)
c.54A>T (p.Glu18Asp)
n.415A>T
c.540A>T (p.Glu180Asp)
c.588A>T (p.Glu196Asp)
c.585A>T (p.Glu195Asp)
c.552A>T (p.Glu184Asp)
3g.189864244C>ACA355753141TP63c.592C>A (p.Leu198Met)
c.310C>A (p.Leu104Met)
c.526C>A (p.Leu176Met)
c.55C>A (p.Leu19Met)
n.416C>A
c.541C>A (p.Leu181Met)
c.589C>A (p.Leu197Met)
c.586C>A (p.Leu196Met)
c.553C>A (p.Leu185Met)
 gnomAD v4
3g.189864244C=CA1428525404TP63c.592C= (p.Leu198=)
c.310C= (p.Leu104=)
c.526C= (p.Leu176=)
c.55C= (p.Leu19=)
n.416C=
c.541C= (p.Leu181=)
c.589C= (p.Leu197=)
c.586C= (p.Leu196=)
c.553C= (p.Leu185=)
3g.189864244C>GCA355753143TP63c.592C>G (p.Leu198Val)
c.310C>G (p.Leu104Val)
c.526C>G (p.Leu176Val)
c.55C>G (p.Leu19Val)
n.416C>G
c.541C>G (p.Leu181Val)
c.589C>G (p.Leu197Val)
c.586C>G (p.Leu196Val)
c.553C>G (p.Leu185Val)
 gnomAD v4
3g.189864244C>TCA437412851TP63c.592C>T (p.Leu198=)
c.310C>T (p.Leu104=)
c.526C>T (p.Leu176=)
c.55C>T (p.Leu19=)
n.416C>T
c.541C>T (p.Leu181=)
c.589C>T (p.Leu197=)
c.586C>T (p.Leu196=)
c.553C>T (p.Leu185=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864245T>ACA355753145TP63c.593T>A (p.Leu198Gln)
c.311T>A (p.Leu104Gln)
c.527T>A (p.Leu176Gln)
c.56T>A (p.Leu19Gln)
n.417T>A
c.542T>A (p.Leu181Gln)
c.590T>A (p.Leu197Gln)
c.587T>A (p.Leu196Gln)
c.554T>A (p.Leu185Gln)
3g.189864245T>CCA355753147TP63c.593T>C (p.Leu198Pro)
c.311T>C (p.Leu104Pro)
c.527T>C (p.Leu176Pro)
c.56T>C (p.Leu19Pro)
n.417T>C
c.542T>C (p.Leu181Pro)
c.590T>C (p.Leu197Pro)
c.587T>C (p.Leu196Pro)
c.554T>C (p.Leu185Pro)
3g.189864245T>GCA355753146TP63c.593T>G (p.Leu198Arg)
c.311T>G (p.Leu104Arg)
c.527T>G (p.Leu176Arg)
c.56T>G (p.Leu19Arg)
n.417T>G
c.542T>G (p.Leu181Arg)
c.590T>G (p.Leu197Arg)
c.587T>G (p.Leu196Arg)
c.554T>G (p.Leu185Arg)
3g.189864246G>ACA437412852TP63c.594G>A (p.Leu198=)
c.312G>A (p.Leu104=)
c.528G>A (p.Leu176=)
c.57G>A (p.Leu19=)
n.418G>A
c.543G>A (p.Leu181=)
c.591G>A (p.Leu197=)
c.588G>A (p.Leu196=)
c.555G>A (p.Leu185=)
 dbSNP gnomAD v2 gnomAD v4
3g.189864246G>CCA437412854TP63c.594G>C (p.Leu198=)
c.312G>C (p.Leu104=)
c.528G>C (p.Leu176=)
c.57G>C (p.Leu19=)
n.418G>C
c.543G>C (p.Leu181=)
c.591G>C (p.Leu197=)
c.588G>C (p.Leu196=)
c.555G>C (p.Leu185=)
3g.189864246G=CA1428525405TP63c.594G= (p.Leu198=)
c.312G= (p.Leu104=)
c.528G= (p.Leu176=)
c.57G= (p.Leu19=)
n.418G=
c.543G= (p.Leu181=)
c.591G= (p.Leu197=)
c.588G= (p.Leu196=)
c.555G= (p.Leu185=)
3g.189864246G>TCA437412853TP63c.594G>T (p.Leu198=)
c.312G>T (p.Leu104=)
c.528G>T (p.Leu176=)
c.57G>T (p.Leu19=)
n.418G>T
c.543G>T (p.Leu181=)
c.591G>T (p.Leu197=)
c.588G>T (p.Leu196=)
c.555G>T (p.Leu185=)
3g.189864247A>CCA355753149TP63c.595A>C (p.Lys199Gln)
c.313A>C (p.Lys105Gln)
c.529A>C (p.Lys177Gln)
c.58A>C (p.Lys20Gln)
n.419A>C
c.544A>C (p.Lys182Gln)
c.592A>C (p.Lys198Gln)
c.589A>C (p.Lys197Gln)
c.556A>C (p.Lys186Gln)
3g.189864247A>GCA355753150TP63c.595A>G (p.Lys199Glu)
c.313A>G (p.Lys105Glu)
c.529A>G (p.Lys177Glu)
c.58A>G (p.Lys20Glu)
n.419A>G
c.544A>G (p.Lys182Glu)
c.592A>G (p.Lys198Glu)
c.589A>G (p.Lys197Glu)
c.556A>G (p.Lys186Glu)
3g.189864247A>TCA355753152TP63c.595A>T (p.Lys199Ter)
c.313A>T (p.Lys105Ter)
c.529A>T (p.Lys177Ter)
c.58A>T (p.Lys20Ter)
n.419A>T
c.544A>T (p.Lys182Ter)
c.592A>T (p.Lys198Ter)
c.589A>T (p.Lys197Ter)
c.556A>T (p.Lys186Ter)
3g.189864248A=CA1428525406TP63c.596A= (p.Lys199=)
c.314A= (p.Lys105=)
c.530A= (p.Lys177=)
c.59A= (p.Lys20=)
n.420A=
c.545A= (p.Lys182=)
c.593A= (p.Lys198=)
c.590A= (p.Lys197=)
c.557A= (p.Lys186=)
3g.189864248A>CCA355753154TP63c.596A>C (p.Lys199Thr)
c.314A>C (p.Lys105Thr)
c.530A>C (p.Lys177Thr)
c.59A>C (p.Lys20Thr)
n.420A>C
c.545A>C (p.Lys182Thr)
c.593A>C (p.Lys198Thr)
c.590A>C (p.Lys197Thr)
c.557A>C (p.Lys186Thr)
3g.189864248A>GCA355753155TP63c.596A>G (p.Lys199Arg)
c.314A>G (p.Lys105Arg)
c.530A>G (p.Lys177Arg)
c.59A>G (p.Lys20Arg)
n.420A>G
c.545A>G (p.Lys182Arg)
c.593A>G (p.Lys198Arg)
c.590A>G (p.Lys197Arg)
c.557A>G (p.Lys186Arg)
 dbSNP
3g.189864248A>TCA355753156TP63c.596A>T (p.Lys199Met)
c.314A>T (p.Lys105Met)
c.530A>T (p.Lys177Met)
c.59A>T (p.Lys20Met)
n.420A>T
c.545A>T (p.Lys182Met)
c.593A>T (p.Lys198Met)
c.590A>T (p.Lys197Met)
c.557A>T (p.Lys186Met)
3g.189864249G>ACA437412856TP63c.597G>A (p.Lys199=)
c.315G>A (p.Lys105=)
c.531G>A (p.Lys177=)
c.60G>A (p.Lys20=)
n.421G>A
c.546G>A (p.Lys182=)
c.594G>A (p.Lys198=)
c.591G>A (p.Lys197=)
c.558G>A (p.Lys186=)
3g.189864249G>CCA355753158TP63c.597G>C (p.Lys199Asn)
c.315G>C (p.Lys105Asn)
c.531G>C (p.Lys177Asn)
c.60G>C (p.Lys20Asn)
n.421G>C
c.546G>C (p.Lys182Asn)
c.594G>C (p.Lys198Asn)
c.591G>C (p.Lys197Asn)
c.558G>C (p.Lys186Asn)
3g.189864249G>TCA355753159TP63c.597G>T (p.Lys199Asn)
c.315G>T (p.Lys105Asn)
c.531G>T (p.Lys177Asn)
c.60G>T (p.Lys20Asn)
n.421G>T
c.546G>T (p.Lys182Asn)
c.594G>T (p.Lys198Asn)
c.591G>T (p.Lys197Asn)
c.558G>T (p.Lys186Asn)
 gnomAD v4
3g.189864250A>CCA355753161TP63c.598A>C (p.Lys200Gln)
c.316A>C (p.Lys106Gln)
c.532A>C (p.Lys178Gln)
c.61A>C (p.Lys21Gln)
n.422A>C
c.547A>C (p.Lys183Gln)
c.595A>C (p.Lys199Gln)
c.592A>C (p.Lys198Gln)
c.559A>C (p.Lys187Gln)
3g.189864250A>GCA355753162TP63c.598A>G (p.Lys200Glu)
c.316A>G (p.Lys106Glu)
c.532A>G (p.Lys178Glu)
c.61A>G (p.Lys21Glu)
n.422A>G
c.547A>G (p.Lys183Glu)
c.595A>G (p.Lys199Glu)
c.592A>G (p.Lys198Glu)
c.559A>G (p.Lys187Glu)
3g.189864250A>TCA355753163TP63c.598A>T (p.Lys200Ter)
c.316A>T (p.Lys106Ter)
c.532A>T (p.Lys178Ter)
c.61A>T (p.Lys21Ter)
n.422A>T
c.547A>T (p.Lys183Ter)
c.595A>T (p.Lys199Ter)
c.592A>T (p.Lys198Ter)
c.559A>T (p.Lys187Ter)
3g.189864251A>CCA355753168TP63c.599A>C (p.Lys200Thr)
c.317A>C (p.Lys106Thr)
c.533A>C (p.Lys178Thr)
c.62A>C (p.Lys21Thr)
n.423A>C
c.548A>C (p.Lys183Thr)
c.596A>C (p.Lys199Thr)
c.593A>C (p.Lys198Thr)
c.560A>C (p.Lys187Thr)
3g.189864251A>GCA355753167TP63c.599A>G (p.Lys200Arg)
c.317A>G (p.Lys106Arg)
c.533A>G (p.Lys178Arg)
c.62A>G (p.Lys21Arg)
n.423A>G
c.548A>G (p.Lys183Arg)
c.596A>G (p.Lys199Arg)
c.593A>G (p.Lys198Arg)
c.560A>G (p.Lys187Arg)
3g.189864251A>TCA355753166TP63c.599A>T (p.Lys200Ile)
c.317A>T (p.Lys106Ile)
c.533A>T (p.Lys178Ile)
c.62A>T (p.Lys21Ile)
n.423A>T
c.548A>T (p.Lys183Ile)
c.596A>T (p.Lys199Ile)
c.593A>T (p.Lys198Ile)
c.560A>T (p.Lys187Ile)
3g.189864252A=CA1428525407TP63c.600A= (p.Lys200=)
c.318A= (p.Lys106=)
c.534A= (p.Lys178=)
c.63A= (p.Lys21=)
n.424A=
c.549A= (p.Lys183=)
c.597A= (p.Lys199=)
c.594A= (p.Lys198=)
c.561A= (p.Lys187=)
3g.189864252A>CCA355753169TP63c.600A>C (p.Lys200Asn)
c.318A>C (p.Lys106Asn)
c.534A>C (p.Lys178Asn)
c.63A>C (p.Lys21Asn)
n.424A>C
c.549A>C (p.Lys183Asn)
c.597A>C (p.Lys199Asn)
c.594A>C (p.Lys198Asn)
c.561A>C (p.Lys187Asn)
3g.189864252A>GCA2752213TP63c.600A>G (p.Lys200=)
c.318A>G (p.Lys106=)
c.534A>G (p.Lys178=)
c.63A>G (p.Lys21=)
n.424A>G
c.549A>G (p.Lys183=)
c.597A>G (p.Lys199=)
c.594A>G (p.Lys198=)
c.561A>G (p.Lys187=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864252A>TCA355753171TP63c.600A>T (p.Lys200Asn)
c.318A>T (p.Lys106Asn)
c.534A>T (p.Lys178Asn)
c.63A>T (p.Lys21Asn)
n.424A>T
c.549A>T (p.Lys183Asn)
c.597A>T (p.Lys199Asn)
c.594A>T (p.Lys198Asn)
c.561A>T (p.Lys187Asn)
3g.189864253C>ACA355753173TP63c.601C>A (p.Leu201Ile)
c.319C>A (p.Leu107Ile)
c.535C>A (p.Leu179Ile)
c.64C>A (p.Leu22Ile)
n.425C>A
c.550C>A (p.Leu184Ile)
c.598C>A (p.Leu200Ile)
c.595C>A (p.Leu199Ile)
c.562C>A (p.Leu188Ile)
3g.189864253C>GCA355753174TP63c.601C>G (p.Leu201Val)
c.319C>G (p.Leu107Val)
c.535C>G (p.Leu179Val)
c.64C>G (p.Leu22Val)
n.425C>G
c.550C>G (p.Leu184Val)
c.598C>G (p.Leu200Val)
c.595C>G (p.Leu199Val)
c.562C>G (p.Leu188Val)
3g.189864253C>TCA355753175TP63c.601C>T (p.Leu201Phe)
c.319C>T (p.Leu107Phe)
c.535C>T (p.Leu179Phe)
c.64C>T (p.Leu22Phe)
n.425C>T
c.550C>T (p.Leu184Phe)
c.598C>T (p.Leu200Phe)
c.595C>T (p.Leu199Phe)
c.562C>T (p.Leu188Phe)
3g.189864254T>ACA355753177TP63c.602T>A (p.Leu201His)
c.320T>A (p.Leu107His)
c.536T>A (p.Leu179His)
c.65T>A (p.Leu22His)
n.426T>A
c.551T>A (p.Leu184His)
c.599T>A (p.Leu200His)
c.596T>A (p.Leu199His)
c.563T>A (p.Leu188His)
3g.189864254T>CCA355753179TP63c.602T>C (p.Leu201Pro)
c.320T>C (p.Leu107Pro)
c.536T>C (p.Leu179Pro)
c.65T>C (p.Leu22Pro)
n.426T>C
c.551T>C (p.Leu184Pro)
c.599T>C (p.Leu200Pro)
c.596T>C (p.Leu199Pro)
c.563T>C (p.Leu188Pro)
3g.189864254T>GCA355753181TP63c.602T>G (p.Leu201Arg)
c.320T>G (p.Leu107Arg)
c.536T>G (p.Leu179Arg)
c.65T>G (p.Leu22Arg)
n.426T>G
c.551T>G (p.Leu184Arg)
c.599T>G (p.Leu200Arg)
c.596T>G (p.Leu199Arg)
c.563T>G (p.Leu188Arg)
3g.189864255C>ACA437412858TP63c.603C>A (p.Leu201=)
c.321C>A (p.Leu107=)
c.537C>A (p.Leu179=)
c.66C>A (p.Leu22=)
n.427C>A
c.552C>A (p.Leu184=)
c.600C>A (p.Leu200=)
c.597C>A (p.Leu199=)
c.564C>A (p.Leu188=)
3g.189864255C=CA1428525408TP63c.603C= (p.Leu201=)
c.321C= (p.Leu107=)
c.537C= (p.Leu179=)
c.66C= (p.Leu22=)
n.427C=
c.552C= (p.Leu184=)
c.600C= (p.Leu200=)
c.597C= (p.Leu199=)
c.564C= (p.Leu188=)
3g.189864255C>GCA437412859TP63c.603C>G (p.Leu201=)
c.321C>G (p.Leu107=)
c.537C>G (p.Leu179=)
c.66C>G (p.Leu22=)
n.427C>G
c.552C>G (p.Leu184=)
c.600C>G (p.Leu200=)
c.597C>G (p.Leu199=)
c.564C>G (p.Leu188=)
 dbSNP gnomAD v2 gnomAD v4
3g.189864255C>TCA437412857TP63c.603C>T (p.Leu201=)
c.321C>T (p.Leu107=)
c.537C>T (p.Leu179=)
c.66C>T (p.Leu22=)
n.427C>T
c.552C>T (p.Leu184=)
c.600C>T (p.Leu200=)
c.597C>T (p.Leu199=)
c.564C>T (p.Leu188=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864256T>ACA355753182TP63c.604T>A (p.Tyr202Asn)
c.322T>A (p.Tyr108Asn)
c.538T>A (p.Tyr180Asn)
c.67T>A (p.Tyr23Asn)
n.428T>A
c.553T>A (p.Tyr185Asn)
c.601T>A (p.Tyr201Asn)
c.598T>A (p.Tyr200Asn)
c.565T>A (p.Tyr189Asn)
3g.189864256T>CCA355753183TP63c.604T>C (p.Tyr202His)
c.322T>C (p.Tyr108His)
c.538T>C (p.Tyr180His)
c.67T>C (p.Tyr23His)
n.428T>C
c.553T>C (p.Tyr185His)
c.601T>C (p.Tyr201His)
c.598T>C (p.Tyr200His)
c.565T>C (p.Tyr189His)
 ClinVar
3g.189864256T>GCA355753185TP63c.604T>G (p.Tyr202Asp)
c.322T>G (p.Tyr108Asp)
c.538T>G (p.Tyr180Asp)
c.67T>G (p.Tyr23Asp)
n.428T>G
c.553T>G (p.Tyr185Asp)
c.601T>G (p.Tyr201Asp)
c.598T>G (p.Tyr200Asp)
c.565T>G (p.Tyr189Asp)
3g.189864257A=CA1428525409TP63c.605A= (p.Tyr202=)
c.323A= (p.Tyr108=)
c.539A= (p.Tyr180=)
c.68A= (p.Tyr23=)
n.429A=
c.554A= (p.Tyr185=)
c.602A= (p.Tyr201=)
c.599A= (p.Tyr200=)
c.566A= (p.Tyr189=)
3g.189864257A>CCA355753189TP63c.605A>C (p.Tyr202Ser)
c.323A>C (p.Tyr108Ser)
c.539A>C (p.Tyr180Ser)
c.68A>C (p.Tyr23Ser)
n.429A>C
c.554A>C (p.Tyr185Ser)
c.602A>C (p.Tyr201Ser)
c.599A>C (p.Tyr200Ser)
c.566A>C (p.Tyr189Ser)
3g.189864257A>GCA16042432TP63c.605A>G (p.Tyr202Cys)
c.323A>G (p.Tyr108Cys)
c.539A>G (p.Tyr180Cys)
c.68A>G (p.Tyr23Cys)
n.429A>G
c.554A>G (p.Tyr185Cys)
c.602A>G (p.Tyr201Cys)
c.599A>G (p.Tyr200Cys)
c.566A>G (p.Tyr189Cys)
 ClinVar dbSNP
3g.189864257A>TCA355753187TP63c.605A>T (p.Tyr202Phe)
c.323A>T (p.Tyr108Phe)
c.539A>T (p.Tyr180Phe)
c.68A>T (p.Tyr23Phe)
n.429A>T
c.554A>T (p.Tyr185Phe)
c.602A>T (p.Tyr201Phe)
c.599A>T (p.Tyr200Phe)
c.566A>T (p.Tyr189Phe)
3g.189864258C>ACA355753190TP63c.606C>A (p.Tyr202Ter)
c.324C>A (p.Tyr108Ter)
c.540C>A (p.Tyr180Ter)
c.69C>A (p.Tyr23Ter)
n.430C>A
c.555C>A (p.Tyr185Ter)
c.603C>A (p.Tyr201Ter)
c.600C>A (p.Tyr200Ter)
c.567C>A (p.Tyr189Ter)
3g.189864258C>GCA355753192TP63c.606C>G (p.Tyr202Ter)
c.324C>G (p.Tyr108Ter)
c.540C>G (p.Tyr180Ter)
c.69C>G (p.Tyr23Ter)
n.430C>G
c.555C>G (p.Tyr185Ter)
c.603C>G (p.Tyr201Ter)
c.600C>G (p.Tyr200Ter)
c.567C>G (p.Tyr189Ter)
3g.189864258C>TCA437412861TP63c.606C>T (p.Tyr202=)
c.324C>T (p.Tyr108=)
c.540C>T (p.Tyr180=)
c.69C>T (p.Tyr23=)
n.430C>T
c.555C>T (p.Tyr185=)
c.603C>T (p.Tyr201=)
c.600C>T (p.Tyr200=)
c.567C>T (p.Tyr189=)
 dbSNP
3g.189864259T>ACA355753193TP63c.607T>A (p.Cys203Ser)
c.325T>A (p.Cys109Ser)
c.541T>A (p.Cys181Ser)
c.70T>A (p.Cys24Ser)
n.431T>A
c.556T>A (p.Cys186Ser)
c.604T>A (p.Cys202Ser)
c.601T>A (p.Cys201Ser)
c.568T>A (p.Cys190Ser)
3g.189864259T>CCA355753195TP63c.607T>C (p.Cys203Arg)
c.325T>C (p.Cys109Arg)
c.541T>C (p.Cys181Arg)
c.70T>C (p.Cys24Arg)
n.431T>C
c.556T>C (p.Cys186Arg)
c.604T>C (p.Cys202Arg)
c.601T>C (p.Cys201Arg)
c.568T>C (p.Cys190Arg)
3g.189864259T>GCA355753196TP63c.607T>G (p.Cys203Gly)
c.325T>G (p.Cys109Gly)
c.541T>G (p.Cys181Gly)
c.70T>G (p.Cys24Gly)
n.431T>G
c.556T>G (p.Cys186Gly)
c.604T>G (p.Cys202Gly)
c.601T>G (p.Cys201Gly)
c.568T>G (p.Cys190Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.189864259T=CA1428525410TP63c.607T= (p.Cys203=)
c.325T= (p.Cys109=)
c.541T= (p.Cys181=)
c.70T= (p.Cys24=)
n.431T=
c.556T= (p.Cys186=)
c.604T= (p.Cys202=)
c.601T= (p.Cys201=)
c.568T= (p.Cys190=)
3g.189864260G>ACA355753198TP63c.608G>A (p.Cys203Tyr)
c.326G>A (p.Cys109Tyr)
c.542G>A (p.Cys181Tyr)
c.71G>A (p.Cys24Tyr)
n.432G>A
c.557G>A (p.Cys186Tyr)
c.605G>A (p.Cys202Tyr)
c.602G>A (p.Cys201Tyr)
c.569G>A (p.Cys190Tyr)
 ClinVar
3g.189864260G>CCA355753200TP63c.608G>C (p.Cys203Ser)
c.326G>C (p.Cys109Ser)
c.542G>C (p.Cys181Ser)
c.71G>C (p.Cys24Ser)
n.432G>C
c.557G>C (p.Cys186Ser)
c.605G>C (p.Cys202Ser)
c.602G>C (p.Cys201Ser)
c.569G>C (p.Cys190Ser)
3g.189864260G>TCA355753202TP63c.608G>T (p.Cys203Phe)
c.326G>T (p.Cys109Phe)
c.542G>T (p.Cys181Phe)
c.71G>T (p.Cys24Phe)
n.432G>T
c.557G>T (p.Cys186Phe)
c.605G>T (p.Cys202Phe)
c.602G>T (p.Cys201Phe)
c.569G>T (p.Cys190Phe)
3g.189864261C>ACA355753203TP63c.609C>A (p.Cys203Ter)
c.327C>A (p.Cys109Ter)
c.543C>A (p.Cys181Ter)
c.72C>A (p.Cys24Ter)
n.433C>A
c.558C>A (p.Cys186Ter)
c.606C>A (p.Cys202Ter)
c.603C>A (p.Cys201Ter)
c.570C>A (p.Cys190Ter)
3g.189864261C>GCA355753205TP63c.609C>G (p.Cys203Trp)
c.327C>G (p.Cys109Trp)
c.543C>G (p.Cys181Trp)
c.72C>G (p.Cys24Trp)
n.433C>G
c.558C>G (p.Cys186Trp)
c.606C>G (p.Cys202Trp)
c.603C>G (p.Cys201Trp)
c.570C>G (p.Cys190Trp)
3g.189864261C>TCA437412862TP63c.609C>T (p.Cys203=)
c.327C>T (p.Cys109=)
c.543C>T (p.Cys181=)
c.72C>T (p.Cys24=)
n.433C>T
c.558C>T (p.Cys186=)
c.606C>T (p.Cys202=)
c.603C>T (p.Cys201=)
c.570C>T (p.Cys190=)
 gnomAD v4
3g.189864262C>ACA355753207TP63c.610C>A (p.Gln204Lys)
c.328C>A (p.Gln110Lys)
c.544C>A (p.Gln182Lys)
c.73C>A (p.Gln25Lys)
n.434C>A
c.559C>A (p.Gln187Lys)
c.607C>A (p.Gln203Lys)
c.604C>A (p.Gln202Lys)
c.571C>A (p.Gln191Lys)
3g.189864262C>GCA355753209TP63c.610C>G (p.Gln204Glu)
c.328C>G (p.Gln110Glu)
c.544C>G (p.Gln182Glu)
c.73C>G (p.Gln25Glu)
n.434C>G
c.559C>G (p.Gln187Glu)
c.607C>G (p.Gln203Glu)
c.604C>G (p.Gln202Glu)
c.571C>G (p.Gln191Glu)
3g.189864262C>TCA355753210TP63c.610C>T (p.Gln204Ter)
c.328C>T (p.Gln110Ter)
c.544C>T (p.Gln182Ter)
c.73C>T (p.Gln25Ter)
n.434C>T
c.559C>T (p.Gln187Ter)
c.607C>T (p.Gln203Ter)
c.604C>T (p.Gln202Ter)
c.571C>T (p.Gln191Ter)
3g.189864263A>CCA355753215TP63c.611A>C (p.Gln204Pro)
c.329A>C (p.Gln110Pro)
c.545A>C (p.Gln182Pro)
c.74A>C (p.Gln25Pro)
n.435A>C
c.560A>C (p.Gln187Pro)
c.608A>C (p.Gln203Pro)
c.605A>C (p.Gln202Pro)
c.572A>C (p.Gln191Pro)
3g.189864263A>GCA355753213TP63c.611A>G (p.Gln204Arg)
c.329A>G (p.Gln110Arg)
c.545A>G (p.Gln182Arg)
c.74A>G (p.Gln25Arg)
n.435A>G
c.560A>G (p.Gln187Arg)
c.608A>G (p.Gln203Arg)
c.605A>G (p.Gln202Arg)
c.572A>G (p.Gln191Arg)
3g.189864263A>TCA355753212TP63c.611A>T (p.Gln204Leu)
c.329A>T (p.Gln110Leu)
c.545A>T (p.Gln182Leu)
c.74A>T (p.Gln25Leu)
n.435A>T
c.560A>T (p.Gln187Leu)
c.608A>T (p.Gln203Leu)
c.605A>T (p.Gln202Leu)
c.572A>T (p.Gln191Leu)
3g.189864264A>CCA355753216TP63c.612A>C (p.Gln204His)
c.330A>C (p.Gln110His)
c.546A>C (p.Gln182His)
c.75A>C (p.Gln25His)
n.436A>C
c.561A>C (p.Gln187His)
c.609A>C (p.Gln203His)
c.606A>C (p.Gln202His)
c.573A>C (p.Gln191His)
3g.189864264A>GCA437412863TP63c.612A>G (p.Gln204=)
c.330A>G (p.Gln110=)
c.546A>G (p.Gln182=)
c.75A>G (p.Gln25=)
n.436A>G
c.561A>G (p.Gln187=)
c.609A>G (p.Gln203=)
c.606A>G (p.Gln202=)
c.573A>G (p.Gln191=)
3g.189864264A>TCA355753217TP63c.612A>T (p.Gln204His)
c.330A>T (p.Gln110His)
c.546A>T (p.Gln182His)
c.75A>T (p.Gln25His)
n.436A>T
c.561A>T (p.Gln187His)
c.609A>T (p.Gln203His)
c.606A>T (p.Gln202His)
c.573A>T (p.Gln191His)
3g.189864265A>CCA355753219TP63c.613A>C (p.Ile205Leu)
c.331A>C (p.Ile111Leu)
c.547A>C (p.Ile183Leu)
c.76A>C (p.Ile26Leu)
n.437A>C
c.562A>C (p.Ile188Leu)
c.610A>C (p.Ile204Leu)
c.607A>C (p.Ile203Leu)
c.574A>C (p.Ile192Leu)
3g.189864265A>GCA355753221TP63c.613A>G (p.Ile205Val)
c.331A>G (p.Ile111Val)
c.547A>G (p.Ile183Val)
c.76A>G (p.Ile26Val)
n.437A>G
c.562A>G (p.Ile188Val)
c.610A>G (p.Ile204Val)
c.607A>G (p.Ile203Val)
c.574A>G (p.Ile192Val)
3g.189864265A>TCA355753223TP63c.613A>T (p.Ile205Phe)
c.331A>T (p.Ile111Phe)
c.547A>T (p.Ile183Phe)
c.76A>T (p.Ile26Phe)
n.437A>T
c.562A>T (p.Ile188Phe)
c.610A>T (p.Ile204Phe)
c.607A>T (p.Ile203Phe)
c.574A>T (p.Ile192Phe)
3g.189864266T>ACA355753224TP63c.614T>A (p.Ile205Asn)
c.332T>A (p.Ile111Asn)
c.548T>A (p.Ile183Asn)
c.77T>A (p.Ile26Asn)
n.438T>A
c.563T>A (p.Ile188Asn)
c.611T>A (p.Ile204Asn)
c.608T>A (p.Ile203Asn)
c.575T>A (p.Ile192Asn)
3g.189864266T>CCA355753226TP63c.614T>C (p.Ile205Thr)
c.332T>C (p.Ile111Thr)
c.548T>C (p.Ile183Thr)
c.77T>C (p.Ile26Thr)
n.438T>C
c.563T>C (p.Ile188Thr)
c.611T>C (p.Ile204Thr)
c.608T>C (p.Ile203Thr)
c.575T>C (p.Ile192Thr)
3g.189864266T>GCA355753228TP63c.614T>G (p.Ile205Ser)
c.332T>G (p.Ile111Ser)
c.548T>G (p.Ile183Ser)
c.77T>G (p.Ile26Ser)
n.438T>G
c.563T>G (p.Ile188Ser)
c.611T>G (p.Ile204Ser)
c.608T>G (p.Ile203Ser)
c.575T>G (p.Ile192Ser)
3g.189864267T>ACA437412864TP63c.615T>A (p.Ile205=)
c.333T>A (p.Ile111=)
c.549T>A (p.Ile183=)
c.78T>A (p.Ile26=)
n.439T>A
c.564T>A (p.Ile188=)
c.612T>A (p.Ile204=)
c.609T>A (p.Ile203=)
c.576T>A (p.Ile192=)
3g.189864267T>CCA437412865TP63c.615T>C (p.Ile205=)
c.333T>C (p.Ile111=)
c.549T>C (p.Ile183=)
c.78T>C (p.Ile26=)
n.439T>C
c.564T>C (p.Ile188=)
c.612T>C (p.Ile204=)
c.609T>C (p.Ile203=)
c.576T>C (p.Ile192=)
3g.189864267T>GCA355753229TP63c.615T>G (p.Ile205Met)
c.333T>G (p.Ile111Met)
c.549T>G (p.Ile183Met)
c.78T>G (p.Ile26Met)
n.439T>G
c.564T>G (p.Ile188Met)
c.612T>G (p.Ile204Met)
c.609T>G (p.Ile203Met)
c.576T>G (p.Ile192Met)
3g.189864268G>ACA355753230TP63c.616G>A (p.Ala206Thr)
c.334G>A (p.Ala112Thr)
c.550G>A
c.79G>A (p.Ala27Thr)
n.440G>A
c.565G>A (p.Ala189Thr)
c.613G>A (p.Ala205Thr)
c.610G>A (p.Ala204Thr)
c.577G>A (p.Ala193Thr)
3g.189864268G>CCA355753232TP63c.616G>C (p.Ala206Pro)
c.334G>C (p.Ala112Pro)
c.550G>C
c.79G>C (p.Ala27Pro)
n.440G>C
c.565G>C (p.Ala189Pro)
c.613G>C (p.Ala205Pro)
c.610G>C (p.Ala204Pro)
c.577G>C (p.Ala193Pro)
3g.189864268G>TCA355753234TP63c.616G>T (p.Ala206Ser)
c.334G>T (p.Ala112Ser)
c.550G>T
c.79G>T (p.Ala27Ser)
n.440G>T
c.565G>T (p.Ala189Ser)
c.613G>T (p.Ala205Ser)
c.610G>T (p.Ala204Ser)
c.577G>T (p.Ala193Ser)
3g.189864269C>ACA355753237TP63c.617C>A (p.Ala206Glu)
c.335C>A (p.Ala112Glu)
c.80C>A (p.Ala27Glu)
n.441C>A
c.566C>A (p.Ala189Glu)
c.614C>A (p.Ala205Glu)
c.611C>A (p.Ala204Glu)
c.578C>A (p.Ala193Glu)
3g.189864269C>GCA355753239TP63c.617C>G (p.Ala206Gly)
c.335C>G (p.Ala112Gly)
c.80C>G (p.Ala27Gly)
n.441C>G
c.566C>G (p.Ala189Gly)
c.614C>G (p.Ala205Gly)
c.611C>G (p.Ala204Gly)
c.578C>G (p.Ala193Gly)
3g.189864269C>TCA355753236TP63c.617C>T (p.Ala206Val)
c.335C>T (p.Ala112Val)
c.80C>T (p.Ala27Val)
n.441C>T
c.566C>T (p.Ala189Val)
c.614C>T (p.Ala205Val)
c.611C>T (p.Ala204Val)
c.578C>T (p.Ala193Val)
3g.189864270A=CA1428525411TP63c.618A= (p.Ala206=)
c.336A= (p.Ala112=)
c.81A= (p.Ala27=)
n.442A=
c.567A= (p.Ala189=)
c.615A= (p.Ala205=)
c.612A= (p.Ala204=)
c.579A= (p.Ala193=)
3g.189864270A>CCA437412866TP63c.618A>C (p.Ala206=)
c.336A>C (p.Ala112=)
c.81A>C (p.Ala27=)
n.442A>C
c.567A>C (p.Ala189=)
c.615A>C (p.Ala205=)
c.612A>C (p.Ala204=)
c.579A>C (p.Ala193=)
3g.189864270A>GCA437412867TP63c.618A>G (p.Ala206=)
c.336A>G (p.Ala112=)
c.81A>G (p.Ala27=)
n.442A>G
c.567A>G (p.Ala189=)
c.615A>G (p.Ala205=)
c.612A>G (p.Ala204=)
c.579A>G (p.Ala193=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864270A>TCA437412869TP63c.618A>T (p.Ala206=)
c.336A>T (p.Ala112=)
c.81A>T (p.Ala27=)
n.442A>T
c.567A>T (p.Ala189=)
c.615A>T (p.Ala205=)
c.612A>T (p.Ala204=)
c.579A>T (p.Ala193=)
3g.189864271A>CCA355753241TP63c.619A>C (p.Lys207Gln)
c.337A>C (p.Lys113Gln)
c.82A>C (p.Lys28Gln)
n.443A>C
c.568A>C (p.Lys190Gln)
c.616A>C (p.Lys206Gln)
c.613A>C (p.Lys205Gln)
c.580A>C (p.Lys194Gln)
3g.189864271A>GCA355753242TP63c.619A>G (p.Lys207Glu)
c.337A>G (p.Lys113Glu)
c.82A>G (p.Lys28Glu)
n.443A>G
c.568A>G (p.Lys190Glu)
c.616A>G (p.Lys206Glu)
c.613A>G (p.Lys205Glu)
c.580A>G (p.Lys194Glu)
3g.189864271A>TCA355753244TP63c.619A>T (p.Lys207Ter)
c.337A>T (p.Lys113Ter)
c.82A>T (p.Lys28Ter)
n.443A>T
c.568A>T (p.Lys190Ter)
c.616A>T (p.Lys206Ter)
c.613A>T (p.Lys205Ter)
c.580A>T (p.Lys194Ter)
3g.189864272A>CCA355753245TP63c.620A>C (p.Lys207Thr)
c.338A>C (p.Lys113Thr)
c.83A>C (p.Lys28Thr)
n.444A>C
c.569A>C (p.Lys190Thr)
c.617A>C (p.Lys206Thr)
c.614A>C (p.Lys205Thr)
c.581A>C (p.Lys194Thr)
3g.189864272A>GCA355753246TP63c.620A>G (p.Lys207Arg)
c.338A>G (p.Lys113Arg)
c.83A>G (p.Lys28Arg)
n.444A>G
c.569A>G (p.Lys190Arg)
c.617A>G (p.Lys206Arg)
c.614A>G (p.Lys205Arg)
c.581A>G (p.Lys194Arg)
3g.189864272A>TCA355753247TP63c.620A>T (p.Lys207Met)
c.338A>T (p.Lys113Met)
c.83A>T (p.Lys28Met)
n.444A>T
c.569A>T (p.Lys190Met)
c.617A>T (p.Lys206Met)
c.614A>T (p.Lys205Met)
c.581A>T (p.Lys194Met)
3g.189864273G>ACA437412871TP63c.621G>A (p.Lys207=)
c.339G>A (p.Lys113=)
c.84G>A (p.Lys28=)
n.445G>A
c.570G>A (p.Lys190=)
c.618G>A (p.Lys206=)
c.615G>A (p.Lys205=)
c.582G>A (p.Lys194=)
 COSMIC COSMIC COSMIC
3g.189864273G>CCA355753250TP63c.621G>C (p.Lys207Asn)
c.339G>C (p.Lys113Asn)
c.84G>C (p.Lys28Asn)
n.445G>C
c.570G>C (p.Lys190Asn)
c.618G>C (p.Lys206Asn)
c.615G>C (p.Lys205Asn)
c.582G>C (p.Lys194Asn)
3g.189864273G>TCA355753248TP63c.621G>T (p.Lys207Asn)
c.339G>T (p.Lys113Asn)
c.84G>T (p.Lys28Asn)
n.445G>T
c.570G>T (p.Lys190Asn)
c.618G>T (p.Lys206Asn)
c.615G>T (p.Lys205Asn)
c.582G>T (p.Lys194Asn)
3g.189864274A>CCA355753252TP63c.622A>C (p.Thr208Pro)
c.340A>C (p.Thr114Pro)
c.85A>C (p.Thr29Pro)
n.446A>C
c.571A>C (p.Thr191Pro)
c.619A>C (p.Thr207Pro)
c.616A>C (p.Thr206Pro)
c.583A>C (p.Thr195Pro)
3g.189864274A>GCA355753254TP63c.622A>G (p.Thr208Ala)
c.340A>G (p.Thr114Ala)
c.85A>G (p.Thr29Ala)
n.446A>G
c.571A>G (p.Thr191Ala)
c.619A>G (p.Thr207Ala)
c.616A>G (p.Thr206Ala)
c.583A>G (p.Thr195Ala)
3g.189864274A>TCA355753255TP63c.622A>T (p.Thr208Ser)
c.340A>T (p.Thr114Ser)
c.85A>T (p.Thr29Ser)
n.446A>T
c.571A>T (p.Thr191Ser)
c.619A>T (p.Thr207Ser)
c.616A>T (p.Thr206Ser)
c.583A>T (p.Thr195Ser)
3g.189864275C>ACA355753256TP63c.623C>A (p.Thr208Lys)
c.341C>A (p.Thr114Lys)
c.86C>A (p.Thr29Lys)
n.447C>A
c.572C>A (p.Thr191Lys)
c.620C>A (p.Thr207Lys)
c.617C>A (p.Thr206Lys)
c.584C>A (p.Thr195Lys)
3g.189864275C>GCA355753258TP63c.623C>G (p.Thr208Arg)
c.341C>G (p.Thr114Arg)
c.86C>G (p.Thr29Arg)
n.447C>G
c.572C>G (p.Thr191Arg)
c.620C>G (p.Thr207Arg)
c.617C>G (p.Thr206Arg)
c.584C>G (p.Thr195Arg)
3g.189864275C>TCA355753260TP63c.623C>T (p.Thr208Ile)
c.341C>T (p.Thr114Ile)
c.86C>T (p.Thr29Ile)
n.447C>T
c.572C>T (p.Thr191Ile)
c.620C>T (p.Thr207Ile)
c.617C>T (p.Thr206Ile)
c.584C>T (p.Thr195Ile)
3g.189864276A>CCA437412872TP63c.624A>C (p.Thr208=)
c.342A>C (p.Thr114=)
c.87A>C (p.Thr29=)
n.448A>C
c.573A>C (p.Thr191=)
c.621A>C (p.Thr207=)
c.618A>C (p.Thr206=)
c.585A>C (p.Thr195=)
3g.189864276A>GCA437412874TP63c.624A>G (p.Thr208=)
c.342A>G (p.Thr114=)
c.87A>G (p.Thr29=)
n.448A>G
c.573A>G (p.Thr191=)
c.621A>G (p.Thr207=)
c.618A>G (p.Thr206=)
c.585A>G (p.Thr195=)
 ClinVar
3g.189864276A>TCA437412873TP63c.624A>T (p.Thr208=)
c.342A>T (p.Thr114=)
c.87A>T (p.Thr29=)
n.448A>T
c.573A>T (p.Thr191=)
c.621A>T (p.Thr207=)
c.618A>T (p.Thr206=)
c.585A>T (p.Thr195=)
3g.189864277T>ACA355753262TP63c.625T>A (p.Cys209Ser)
c.343T>A (p.Cys115Ser)
c.88T>A (p.Cys30Ser)
n.449T>A
c.574T>A (p.Cys192Ser)
c.622T>A (p.Cys208Ser)
c.619T>A (p.Cys207Ser)
c.586T>A (p.Cys196Ser)
3g.189864277T>CCA355753265TP63c.625T>C (p.Cys209Arg)
c.343T>C (p.Cys115Arg)
c.88T>C (p.Cys30Arg)
n.449T>C
c.574T>C (p.Cys192Arg)
c.622T>C (p.Cys208Arg)
c.619T>C (p.Cys207Arg)
c.586T>C (p.Cys196Arg)
3g.189864277T>GCA355753263TP63c.625T>G (p.Cys209Gly)
c.343T>G (p.Cys115Gly)
c.88T>G (p.Cys30Gly)
n.449T>G
c.574T>G (p.Cys192Gly)
c.622T>G (p.Cys208Gly)
c.619T>G (p.Cys207Gly)
c.586T>G (p.Cys196Gly)
3g.189864278G>ACA355753267TP63c.626G>A (p.Cys209Tyr)
c.344G>A (p.Cys115Tyr)
c.89G>A (p.Cys30Tyr)
n.450G>A
c.575G>A (p.Cys192Tyr)
c.623G>A (p.Cys208Tyr)
c.620G>A (p.Cys207Tyr)
c.587G>A (p.Cys196Tyr)
3g.189864278G>CCA355753268TP63c.626G>C (p.Cys209Ser)
c.344G>C (p.Cys115Ser)
c.89G>C (p.Cys30Ser)
n.450G>C
c.575G>C (p.Cys192Ser)
c.623G>C (p.Cys208Ser)
c.620G>C (p.Cys207Ser)
c.587G>C (p.Cys196Ser)
3g.189864278G>TCA355753270TP63c.626G>T (p.Cys209Phe)
c.344G>T (p.Cys115Phe)
c.89G>T (p.Cys30Phe)
n.450G>T
c.575G>T (p.Cys192Phe)
c.623G>T (p.Cys208Phe)
c.620G>T (p.Cys207Phe)
c.587G>T (p.Cys196Phe)
3g.189864279C>ACA355753271TP63c.627C>A (p.Cys209Ter)
c.345C>A (p.Cys115Ter)
c.90C>A (p.Cys30Ter)
n.451C>A
c.576C>A (p.Cys192Ter)
c.624C>A (p.Cys208Ter)
c.621C>A (p.Cys207Ter)
c.588C>A (p.Cys196Ter)
3g.189864279C>GCA355753273TP63c.627C>G (p.Cys209Trp)
c.345C>G (p.Cys115Trp)
c.90C>G (p.Cys30Trp)
n.451C>G
c.576C>G (p.Cys192Trp)
c.624C>G (p.Cys208Trp)
c.621C>G (p.Cys207Trp)
c.588C>G (p.Cys196Trp)
3g.189864279C>TCA437412875TP63c.627C>T (p.Cys209=)
c.345C>T (p.Cys115=)
c.90C>T (p.Cys30=)
n.451C>T
c.576C>T (p.Cys192=)
c.624C>T (p.Cys208=)
c.621C>T (p.Cys207=)
c.588C>T (p.Cys196=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.189864280C>ACA355753274TP63c.628C>A (p.Pro210Thr)
c.346C>A (p.Pro116Thr)
c.91C>A (p.Pro31Thr)
n.452C>A
c.577C>A (p.Pro193Thr)
c.625C>A (p.Pro209Thr)
c.622C>A (p.Pro208Thr)
c.589C>A (p.Pro197Thr)
3g.189864280C>GCA355753276TP63c.628C>G (p.Pro210Ala)
c.346C>G (p.Pro116Ala)
c.91C>G (p.Pro31Ala)
n.452C>G
c.577C>G (p.Pro193Ala)
c.625C>G (p.Pro209Ala)
c.622C>G (p.Pro208Ala)
c.589C>G (p.Pro197Ala)
3g.189864280C>TCA355753278TP63c.628C>T (p.Pro210Ser)
c.346C>T (p.Pro116Ser)
c.91C>T (p.Pro31Ser)
n.452C>T
c.577C>T (p.Pro193Ser)
c.625C>T (p.Pro209Ser)
c.622C>T (p.Pro208Ser)
c.589C>T (p.Pro197Ser)
3g.189864281C>ACA355753279TP63c.629C>A (p.Pro210His)
c.347C>A (p.Pro116His)
c.92C>A (p.Pro31His)
n.453C>A
c.578C>A (p.Pro193His)
c.626C>A (p.Pro209His)
c.623C>A (p.Pro208His)
c.590C>A (p.Pro197His)
3g.189864281C>GCA355753281TP63c.629C>G (p.Pro210Arg)
c.347C>G (p.Pro116Arg)
c.92C>G (p.Pro31Arg)
n.453C>G
c.578C>G (p.Pro193Arg)
c.626C>G (p.Pro209Arg)
c.623C>G (p.Pro208Arg)
c.590C>G (p.Pro197Arg)
3g.189864281C>TCA355753282TP63c.629C>T (p.Pro210Leu)
c.347C>T (p.Pro116Leu)
c.92C>T (p.Pro31Leu)
n.453C>T
c.578C>T (p.Pro193Leu)
c.626C>T (p.Pro209Leu)
c.623C>T (p.Pro208Leu)
c.590C>T (p.Pro197Leu)
3g.189864282C>ACA437412877TP63c.630C>A (p.Pro210=)
c.348C>A (p.Pro116=)
c.93C>A (p.Pro31=)
n.454C>A
c.579C>A (p.Pro193=)
c.627C>A (p.Pro209=)
c.624C>A (p.Pro208=)
c.591C>A (p.Pro197=)
3g.189864282C=CA1428525412TP63c.630C= (p.Pro210=)
c.348C= (p.Pro116=)
c.93C= (p.Pro31=)
n.454C=
c.579C= (p.Pro193=)
c.627C= (p.Pro209=)
c.624C= (p.Pro208=)
c.591C= (p.Pro197=)
3g.189864282C>GCA437412878TP63c.630C>G (p.Pro210=)
c.348C>G (p.Pro116=)
c.93C>G (p.Pro31=)
n.454C>G
c.579C>G (p.Pro193=)
c.627C>G (p.Pro209=)
c.624C>G (p.Pro208=)
c.591C>G (p.Pro197=)
3g.189864282C>TCA2752214TP63c.630C>T (p.Pro210=)
c.348C>T (p.Pro116=)
c.93C>T (p.Pro31=)
n.454C>T
c.579C>T (p.Pro193=)
c.627C>T (p.Pro209=)
c.624C>T (p.Pro208=)
c.591C>T (p.Pro197=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864283A=CA1428525413TP63c.631A= (p.Ile211=)
c.349A= (p.Ile117=)
c.94A= (p.Ile32=)
n.455A=
c.580A= (p.Ile194=)
c.628A= (p.Ile210=)
c.625A= (p.Ile209=)
c.592A= (p.Ile198=)
3g.189864283A>CCA355753285TP63c.631A>C (p.Ile211Leu)
c.349A>C (p.Ile117Leu)
c.94A>C (p.Ile32Leu)
n.455A>C
c.580A>C (p.Ile194Leu)
c.628A>C (p.Ile210Leu)
c.625A>C (p.Ile209Leu)
c.592A>C (p.Ile198Leu)
3g.189864283A>GCA355753287TP63c.631A>G (p.Ile211Val)
c.349A>G (p.Ile117Val)
c.94A>G (p.Ile32Val)
n.455A>G
c.580A>G (p.Ile194Val)
c.628A>G (p.Ile210Val)
c.625A>G (p.Ile209Val)
c.592A>G (p.Ile198Val)
 dbSNP gnomAD v3 gnomAD v4
3g.189864283A>TCA355753284TP63c.631A>T (p.Ile211Phe)
c.349A>T (p.Ile117Phe)
c.94A>T (p.Ile32Phe)
n.455A>T
c.580A>T (p.Ile194Phe)
c.628A>T (p.Ile210Phe)
c.625A>T (p.Ile209Phe)
c.592A>T (p.Ile198Phe)
3g.189864284T>ACA355753288TP63c.632T>A (p.Ile211Asn)
c.350T>A (p.Ile117Asn)
c.95T>A (p.Ile32Asn)
n.456T>A
c.581T>A (p.Ile194Asn)
c.629T>A (p.Ile210Asn)
c.626T>A (p.Ile209Asn)
c.593T>A (p.Ile198Asn)
3g.189864284T>CCA355753291TP63c.632T>C (p.Ile211Thr)
c.350T>C (p.Ile117Thr)
c.95T>C (p.Ile32Thr)
n.456T>C
c.581T>C (p.Ile194Thr)
c.629T>C (p.Ile210Thr)
c.626T>C (p.Ile209Thr)
c.593T>C (p.Ile198Thr)
 dbSNP gnomAD v2
3g.189864284T>GCA355753289TP63c.632T>G (p.Ile211Ser)
c.350T>G (p.Ile117Ser)
c.95T>G (p.Ile32Ser)
n.456T>G
c.581T>G (p.Ile194Ser)
c.629T>G (p.Ile210Ser)
c.626T>G (p.Ile209Ser)
c.593T>G (p.Ile198Ser)
3g.189864284T=CA1428525414TP63c.632T= (p.Ile211=)
c.350T= (p.Ile117=)
c.95T= (p.Ile32=)
n.456T=
c.581T= (p.Ile194=)
c.629T= (p.Ile210=)
c.626T= (p.Ile209=)
c.593T= (p.Ile198=)
3g.189864285C>ACA437412880TP63c.633C>A (p.Ile211=)
c.351C>A (p.Ile117=)
c.96C>A (p.Ile32=)
n.457C>A
c.582C>A (p.Ile194=)
c.630C>A (p.Ile210=)
c.627C>A (p.Ile209=)
c.594C>A (p.Ile198=)
3g.189864285C=CA1428525415TP63c.633C= (p.Ile211=)
c.351C= (p.Ile117=)
c.96C= (p.Ile32=)
n.457C=
c.582C= (p.Ile194=)
c.630C= (p.Ile210=)
c.627C= (p.Ile209=)
c.594C= (p.Ile198=)
3g.189864285C>GCA355753293TP63c.633C>G (p.Ile211Met)
c.351C>G (p.Ile117Met)
c.96C>G (p.Ile32Met)
n.457C>G
c.582C>G (p.Ile194Met)
c.630C>G (p.Ile210Met)
c.627C>G (p.Ile209Met)
c.594C>G (p.Ile198Met)
3g.189864285C>TCA2752215TP63c.633C>T (p.Ile211=)
c.351C>T (p.Ile117=)
c.96C>T (p.Ile32=)
n.457C>T
c.582C>T (p.Ile194=)
c.630C>T (p.Ile210=)
c.627C>T (p.Ile209=)
c.594C>T (p.Ile198=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched