Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.102922695_102922703dupCA616397837AMNc.7_15dup (p.Gly5_Arg6insValLeuGly)
c.-175_-167dup (n.-175_-167dup)
c.103_111dup (p.Gly37_Arg38insValLeuGly)
dbSNP gnomAD v2 gnomAD v4
14g.102922702dupCA2802892567AMNc.14dup (p.Arg6ProfsTer?)
c.-168dup (n.-168dup)
c.110dup (p.Arg38ProfsTer?)
14g.102922702delCA144407AMNc.14del (p.Gly5AlafsTer12)
c.-168del (n.-168del)
c.110del (p.Gly37AlafsTer12)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.102922702G>ACA7359676AMNc.14G>A (p.Gly5Asp)
c.-168G>A (n.-168G>A)
c.110G>A (p.Gly37Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.102922702G>CCA391078930AMNc.14G>C (p.Gly5Ala)
c.-168G>C (n.-168G>C)
c.110G>C (p.Gly37Ala)
14g.102922702G=CA2160048514AMNc.14G= (p.Gly5=)
c.-168G= (n.-168G=)
c.110G= (p.Gly37=)
14g.102922702G>TCA391078931AMNc.14G>T (p.Gly5Val)
c.-168G>T (n.-168G>T)
c.110G>T (p.Gly37Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.102922703C>ACA487995820AMNc.15C>A (p.Gly5=)
c.-167C>A (n.-167C>A)
c.111C>A (p.Gly37=)
gnomAD v4
14g.102922703C=CA2160048515AMNc.15C= (p.Gly5=)
c.-167C= (n.-167C=)
c.111C= (p.Gly37=)
14g.102922703C>GCA487995822AMNc.15C>G (p.Gly5=)
c.-167C>G (n.-167C>G)
c.111C>G (p.Gly37=)
14g.102922703C>TCA487995823AMNc.15C>T (p.Gly5=)
c.-167C>T (n.-167C>T)
c.111C>T (p.Gly37=)
dbSNP gnomAD v3 gnomAD v4
14g.102922704C>ACA487995825AMNc.16C>A (p.Arg6=)
c.-166C>A (n.-166C>A)
c.112C>A (p.Arg38=)
gnomAD v4
14g.102922704C=CA2160048516AMNc.16C= (p.Arg6=)
c.-166C= (n.-166C=)
c.112C= (p.Arg38=)
14g.102922704C>GCA7359677AMNc.16C>G (p.Arg6Gly)
c.-166C>G (n.-166C>G)
c.112C>G (p.Arg38Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.102922704C>TCA391078932AMNc.16C>T (p.Arg6Trp)
c.-166C>T (n.-166C>T)
c.112C>T (p.Arg38Trp)
gnomAD v4
14g.102922704_102922705delCA645574467AMNc.16_17del (p.Arg6GlyfsTer?)
c.-166_-165del (n.-166_-165del)
c.112_113del (p.Arg38GlyfsTer?)
COSMIC
14g.102922705G>ACA391078933AMNc.17G>A (p.Arg6Gln)
c.-165G>A (n.-165G>A)
c.113G>A (p.Arg38Gln)
dbSNP gnomAD v4
14g.102922705G>CCA391078935AMNc.17G>C (p.Arg6Pro)
c.-165G>C (n.-165G>C)
c.113G>C (p.Arg38Pro)
dbSNP gnomAD v4
14g.102922705G=CA2160048517AMNc.17G= (p.Arg6=)
c.-165G= (n.-165G=)
c.113G= (p.Arg38=)
14g.102922705G>TCA391078934AMNc.17G>T (p.Arg6Leu)
c.-165G>T (n.-165G>T)
c.113G>T (p.Arg38Leu)
gnomAD v4
14g.102922707dupCA2626675192AMNc.19dup (p.Val7GlyfsTer?)
c.-163dup (n.-163dup)
c.115dup (p.Val39GlyfsTer?)
gnomAD v4
14g.102922707delCA2626675190AMNc.19del (p.Val7SerfsTer10)
c.-163del (n.-163del)
c.115del (p.Val39SerfsTer10)
gnomAD v4
14g.102922706G>ACA267172474AMNc.18G>A (p.Arg6=)
c.-164G>A (n.-164G>A)
c.114G>A (p.Arg38=)
dbSNP gnomAD v3 gnomAD v4
14g.102922706G>CCA267172475AMNc.18G>C (p.Arg6=)
c.-164G>C (n.-164G>C)
c.114G>C (p.Arg38=)
dbSNP gnomAD v3 gnomAD v4
14g.102922706G=CA2160048518AMNc.18G= (p.Arg6=)
c.-164G= (n.-164G=)
c.114G= (p.Arg38=)
14g.102922706G>TCA7359678AMNc.18G>T (p.Arg6=)
c.-164G>T (n.-164G>T)
c.114G>T (p.Arg38=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.102922707G>ACA391078936AMNc.19G>A (p.Val7Ile)
c.-163G>A (n.-163G>A)
c.115G>A (p.Val39Ile)
gnomAD v4
14g.102922707G>CCA391078937AMNc.19G>C (p.Val7Leu)
c.-163G>C (n.-163G>C)
c.115G>C (p.Val39Leu)
14g.102922707G>TCA391078938AMNc.19G>T (p.Val7Phe)
c.-163G>T (n.-163G>T)
c.115G>T (p.Val39Phe)
gnomAD v4
14g.102922708T>ACA391078939AMNc.20T>A (p.Val7Asp)
c.-162T>A (n.-162T>A)
c.116T>A (p.Val39Asp)
14g.102922708T>CCA391078940AMNc.20T>C (p.Val7Ala)
c.-162T>C (n.-162T>C)
c.116T>C (p.Val39Ala)
gnomAD v4 COSMIC
14g.102922708T>GCA391078941AMNc.20T>G (p.Val7Gly)
c.-162T>G (n.-162T>G)
c.116T>G (p.Val39Gly)
14g.102922709C>ACA7359679AMNc.21C>A (p.Val7=)
c.-161C>A (n.-161C>A)
c.117C>A (p.Val39=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.102922709C=CA2160048519AMNc.21C= (p.Val7=)
c.-161C= (n.-161C=)
c.117C= (p.Val39=)
14g.102922709C>GCA487995842AMNc.21C>G (p.Val7=)
c.-161C>G (n.-161C>G)
c.117C>G (p.Val39=)
14g.102922709C>TCA7359680AMNc.21C>T (p.Val7=)
c.-161C>T (n.-161C>T)
c.117C>T (p.Val39=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.102922710C>ACA391078942AMNc.22C>A (p.Leu8Met)
c.-160C>A (n.-160C>A)
c.118C>A (p.Leu40Met)
gnomAD v4
14g.102922710C>GCA391078943AMNc.22C>G (p.Leu8Val)
c.-160C>G (n.-160C>G)
c.118C>G (p.Leu40Val)
14g.102922710C>TCA487995855AMNc.22C>T (p.Leu8=)
c.-160C>T (n.-160C>T)
c.118C>T (p.Leu40=)
gnomAD v4
14g.102922711T>ACA391078946AMNc.23T>A (p.Leu8Gln)
c.-159T>A (n.-159T>A)
c.119T>A (p.Leu40Gln)
dbSNP gnomAD v2 gnomAD v4
14g.102922711T>CCA391078944AMNc.23T>C (p.Leu8Pro)
c.-159T>C (n.-159T>C)
c.119T>C (p.Leu40Pro)
14g.102922711T>GCA391078945AMNc.23T>G (p.Leu8Arg)
c.-159T>G (n.-159T>G)
c.119T>G (p.Leu40Arg)
14g.102922711T=CA2160048520AMNc.23T= (p.Leu8=)
c.-159T= (n.-159T=)
c.119T= (p.Leu40=)
14g.102922712G>ACA487995867AMNc.24G>A (p.Leu8=)
c.-158G>A (n.-158G>A)
c.120G>A (p.Leu40=)
dbSNP gnomAD v2 gnomAD v4
14g.102922712G>CCA487995869AMNc.24G>C (p.Leu8=)
c.-158G>C (n.-158G>C)
c.120G>C (p.Leu40=)
14g.102922712G=CA2160048521AMNc.24G= (p.Leu8=)
c.-158G= (n.-158G=)
c.120G= (p.Leu40=)
14g.102922712G>TCA487995868AMNc.24G>T (p.Leu8=)
c.-158G>T (n.-158G>T)
c.120G>T (p.Leu40=)
ClinVar gnomAD v4
14g.102922713C>ACA391078947AMNc.25C>A (p.Leu9Met)
c.-157C>A (n.-157C>A)
c.121C>A (p.Leu41Met)
gnomAD v4
14g.102922713C>GCA391078948AMNc.25C>G (p.Leu9Val)
c.-157C>G (n.-157C>G)
c.121C>G (p.Leu41Val)
gnomAD v4
14g.102922713C>TCA487995874AMNc.25C>T (p.Leu9=)
c.-157C>T (n.-157C>T)
c.121C>T (p.Leu41=)
gnomAD v4

Number of alleles fetched