Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.15445687_15445711delinsAACACCCGCAAGAAGCCGGTAGTCTCA1155328657CTRCc.730_754delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Asn244=)
c.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT (n.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT)
n.494_518delinsAACACCCGCAAGAAGCCGGTAGTCT
c.584_608delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Gln195=)
1g.15445688_15445718delinsACACCCGCAAGAAGCCGGTAGTCTACACCCGCA1144232719CTRCc.731_761delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Asn244=)
c.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (n.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG)
n.495_525delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG
c.585_615delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Gln195=)
1g.15445695_15445718delCA345648CTRCc.738_761del (p.Lys247_Arg254del)
c.*192_*215del (n.*192_*215del)
n.502_525del
c.592_615del (p.Gln198_Pro205del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445695C>ACA416207399CTRCc.738C>A (p.Arg246=)
c.*192C>A (n.*192C>A)
n.502C>A
c.592C>A (p.Gln198Lys)
ClinVar
1g.15445695C>GCA416207400CTRCc.738C>G (p.Arg246=)
c.*192C>G (n.*192C>G)
n.502C>G
c.592C>G (p.Gln198Glu)
1g.15445695C>TCA416207401CTRCc.738C>T (p.Arg246=)
c.*192C>T (n.*192C>T)
n.502C>T
c.592C>T (p.Gln198Ter)
1g.15445696A=CA1155328694CTRCc.739A= (p.Lys247=)
c.*193A= (n.*193A=)
n.503A=
c.593A= (p.Gln198=)
1g.15445696A>CCA338567874CTRCc.739A>C (p.Lys247Gln)
c.*193A>C (n.*193A>C)
n.503A>C
c.593A>C (p.Gln198Pro)
dbSNP gnomAD v3 gnomAD v4
1g.15445696A>GCA338567873CTRCc.739A>G (p.Lys247Glu)
c.*193A>G (n.*193A>G)
n.503A>G
c.593A>G (p.Gln198Arg)
gnomAD v4
1g.15445696A>TCA338567875CTRCc.739A>T (p.Lys247Ter)
c.*193A>T (n.*193A>T)
n.503A>T
c.593A>T (p.Gln198Leu)
1g.15445697A=CA1155328697CTRCc.740A= (p.Lys247=)
c.*194A= (n.*194A=)
n.504A=
c.594A= (p.Gln198=)
1g.15445697A>CCA338567876CTRCc.740A>C (p.Lys247Thr)
c.*194A>C (n.*194A>C)
n.504A>C
c.594A>C (p.Gln198His)
1g.15445697A>GCA18253809CTRCc.740A>G (p.Lys247Arg)
c.*194A>G (n.*194A>G)
n.504A>G
c.594A>G (p.Gln198=)
dbSNP
1g.15445697A>TCA338567877CTRCc.740A>T (p.Lys247Met)
c.*194A>T (n.*194A>T)
n.504A>T
c.594A>T (p.Gln198His)
1g.15445698G>ACA416207403CTRCc.741G>A (p.Lys247=)
c.*195G>A (n.*195G>A)
n.505G>A
c.595G>A (p.Glu199Lys)
dbSNP gnomAD v2 gnomAD v4
1g.15445698G>CCA338567878CTRCc.741G>C (p.Lys247Asn)
c.*195G>C (n.*195G>C)
n.505G>C
c.595G>C (p.Glu199Gln)
1g.15445698G=CA1155328701CTRCc.741G= (p.Lys247=)
c.*195G= (n.*195G=)
n.505G=
c.595G= (p.Glu199=)
1g.15445698G>TCA338567879CTRCc.741G>T (p.Lys247Asn)
c.*195G>T (n.*195G>T)
n.505G>T
c.595G>T (p.Glu199Ter)
1g.15445699A>CCA338567880CTRCc.742A>C (p.Lys248Gln)
c.*196A>C (n.*196A>C)
n.506A>C
c.596A>C (p.Glu199Ala)
1g.15445699A>GCA338567881CTRCc.742A>G (p.Lys248Glu)
c.*196A>G (n.*196A>G)
n.506A>G
c.596A>G (p.Glu199Gly)
ClinVar
1g.15445699A>TCA338567882CTRCc.742A>T (p.Lys248Ter)
c.*196A>T (n.*196A>T)
n.506A>T
c.596A>T (p.Glu199Val)
1g.15445700A>CCA338567883CTRCc.743A>C (p.Lys248Thr)
c.*197A>C (n.*197A>C)
n.507A>C
c.597A>C (p.Glu199Asp)
1g.15445700A>GCA338567884CTRCc.743A>G (p.Lys248Arg)
c.*197A>G (n.*197A>G)
n.507A>G
c.597A>G (p.Glu199=)
gnomAD v4
1g.15445700A>TCA338567885CTRCc.743A>T (p.Lys248Met)
c.*197A>T (n.*197A>T)
n.507A>T
c.597A>T (p.Glu199Asp)
1g.15445701G>ACA416207406CTRCc.744G>A (p.Lys248=)
c.*198G>A (n.*198G>A)
n.508G>A
c.598G>A (p.Ala200Thr)
ClinVar gnomAD v4
1g.15445701G>CCA338567886CTRCc.744G>C (p.Lys248Asn)
c.*198G>C (n.*198G>C)
n.508G>C
c.598G>C (p.Ala200Pro)
1g.15445701G>TCA338567887CTRCc.744G>T (p.Lys248Asn)
c.*198G>T (n.*198G>T)
n.508G>T
c.598G>T (p.Ala200Ser)
1g.15445702C>ACA338567890CTRCc.745C>A (p.Pro249Thr)
c.*199C>A (n.*199C>A)
n.509C>A
c.599C>A (p.Ala200Asp)
1g.15445702C>GCA338567889CTRCc.745C>G (p.Pro249Ala)
c.*199C>G (n.*199C>G)
n.509C>G
c.599C>G (p.Ala200Gly)
1g.15445702C>TCA338567888CTRCc.745C>T (p.Pro249Ser)
c.*199C>T (n.*199C>T)
n.509C>T
c.599C>T (p.Ala200Val)
ClinVar gnomAD v4
1g.15445703C>ACA338567891CTRCc.746C>A (p.Pro249Gln)
c.*200C>A (n.*200C>A)
n.510C>A
c.600C>A (p.Ala200=)
1g.15445703C=CA1141874374CTRCc.746C= (p.Pro249=)
c.*200C= (n.*200C=)
n.510C=
c.600C= (p.Ala200=)
1g.15445703C>GCA338567892CTRCc.746C>G (p.Pro249Arg)
c.*200C>G (n.*200C>G)
n.510C>G
c.600C>G (p.Ala200=)
gnomAD v4
1g.15445703C>TCA613459CTRCc.746C>T (p.Pro249Leu)
c.*200C>T (n.*200C>T)
n.510C>T
c.600C>T (p.Ala200=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445704G>ACA613460CTRCc.747G>A (p.Pro249=)
c.*201G>A (n.*201G>A)
n.511G>A
c.601G>A (p.Gly201Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445704G>CCA416207410CTRCc.747G>C (p.Pro249=)
c.*201G>C (n.*201G>C)
n.511G>C
c.601G>C (p.Gly201Arg)
1g.15445704G=CA1142342038CTRCc.747G= (p.Pro249=)
c.*201G= (n.*201G=)
n.511G=
c.601G= (p.Gly201=)
1g.15445704G>TCA416207412CTRCc.747G>T (p.Pro249=)
c.*201G>T (n.*201G>T)
n.511G>T
c.601G>T (p.Gly201Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445705G>ACA338567893CTRCc.748G>A (p.Val250Ile)
c.*202G>A (n.*202G>A)
n.512G>A
c.602G>A (p.Gly201Asp)
1g.15445705G>CCA338567894CTRCc.748G>C (p.Val250Leu)
c.*202G>C (n.*202G>C)
n.512G>C
c.602G>C (p.Gly201Ala)
1g.15445705G>TCA338567895CTRCc.748G>T (p.Val250Leu)
c.*202G>T (n.*202G>T)
n.512G>T
c.602G>T (p.Gly201Val)
COSMIC
1g.15445706T>ACA338567896CTRCc.749T>A (p.Val250Glu)
c.*203T>A (n.*203T>A)
n.513T>A
c.603T>A (p.Gly201=)
1g.15445706T>CCA338567897CTRCc.749T>C (p.Val250Ala)
c.*203T>C (n.*203T>C)
n.513T>C
c.603T>C (p.Gly201=)
1g.15445706T>GCA338567898CTRCc.749T>G (p.Val250Gly)
c.*203T>G (n.*203T>G)
n.513T>G
c.603T>G (p.Gly201=)
1g.15445707A>CCA416207414CTRCc.750A>C (p.Val250=)
c.*204A>C (n.*204A>C)
n.514A>C
c.604A>C (p.Ser202Arg)
1g.15445707A>GCA416207415CTRCc.750A>G (p.Val250=)
c.*204A>G (n.*204A>G)
n.514A>G
c.604A>G (p.Ser202Gly)
1g.15445707A>TCA416207416CTRCc.750A>T (p.Val250=)
c.*204A>T (n.*204A>T)
n.514A>T
c.604A>T (p.Ser202Cys)
ClinVar
1g.15445708G>ACA338567899CTRCc.751G>A (p.Val251Ile)
c.*205G>A (n.*205G>A)
n.515G>A
c.605G>A (p.Ser202Asn)
1g.15445708G>CCA338567900CTRCc.751G>C (p.Val251Leu)
c.*205G>C (n.*205G>C)
n.515G>C
c.605G>C (p.Ser202Thr)
dbSNP
1g.15445708G=CA1155328716CTRCc.751G= (p.Val251=)
c.*205G= (n.*205G=)
n.515G=
c.605G= (p.Ser202=)

Number of alleles fetched