Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.42711193T=CA1542304714GHRc.619-14T= (n.619-14T=)
c.553-14T= (n.553-14T=)
c.*231-14T= (n.*231-14T=)
c.640-14T= (n.640-14T=)
c.574-14T= (n.574-14T=)
5g.42711193_42711194insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACCCA1542304717GHRc.619-14_619-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.619-14_619-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC)
c.553-14_553-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.553-14_553-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC)
c.*231-14_*231-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.*231-14_*231-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC)
c.640-14_640-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.640-14_640-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC)
c.574-14_574-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC (n.574-14_574-13insAGTTTTGGGTTTTACATTTAAGTCTTAATCCATCGGTTGAGTTAACC)
 dbSNP
5g.42711194T>ACA118049492GHRc.619-13T>A (n.619-13T>A)
c.553-13T>A (n.553-13T>A)
c.*231-13T>A (n.*231-13T>A)
c.640-13T>A (n.640-13T>A)
c.574-13T>A (n.574-13T>A)
 dbSNP gnomAD v4
5g.42711194T>GCA3254457GHRc.619-13T>G (n.619-13T>G)
c.553-13T>G (n.553-13T>G)
c.*231-13T>G (n.*231-13T>G)
c.640-13T>G (n.640-13T>G)
c.574-13T>G (n.574-13T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711194T=CA1542304719GHRc.619-13T= (n.619-13T=)
c.553-13T= (n.553-13T=)
c.*231-13T= (n.*231-13T=)
c.640-13T= (n.640-13T=)
c.574-13T= (n.574-13T=)
5g.42711196_42711197delinsTGCA1542304721GHRc.619-11_619-10delinsTG (n.619-11_619-10delinsTG)
c.553-11_553-10delinsTG (n.553-11_553-10delinsTG)
c.*231-11_*231-10delinsTG (n.*231-11_*231-10delinsTG)
c.640-11_640-10delinsTG (n.640-11_640-10delinsTG)
c.574-11_574-10delinsTG (n.574-11_574-10delinsTG)
5g.42711197delCA1075490878GHRc.619-10del (n.619-10del)
c.553-10del (n.553-10del)
c.*231-10del (n.*231-10del)
c.640-10del (n.640-10del)
c.574-10del (n.574-10del)
 dbSNP gnomAD v3 gnomAD v4
5g.42711197G>ACA2697547153GHRc.619-10G>A (n.619-10G>A)
c.553-10G>A (n.553-10G>A)
c.*231-10G>A (n.*231-10G>A)
c.640-10G>A (n.640-10G>A)
c.574-10G>A (n.574-10G>A)
 ClinVar
5g.42711197G=CA1542304723GHRc.619-10G= (n.619-10G=)
c.553-10G= (n.553-10G=)
c.*231-10G= (n.*231-10G=)
c.640-10G= (n.640-10G=)
c.574-10G= (n.574-10G=)
5g.42711197G>TCA1542304724GHRc.619-10G>T (n.619-10G>T)
c.553-10G>T (n.553-10G>T)
c.*231-10G>T (n.*231-10G>T)
c.640-10G>T (n.640-10G>T)
c.574-10G>T (n.574-10G>T)
 dbSNP gnomAD v4
5g.42711198T>CCA559293429GHRc.619-9T>C (n.619-9T>C)
c.553-9T>C (n.553-9T>C)
c.*231-9T>C (n.*231-9T>C)
c.640-9T>C (n.640-9T>C)
c.574-9T>C (n.574-9T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.42711198T=CA1542304726GHRc.619-9T= (n.619-9T=)
c.553-9T= (n.553-9T=)
c.*231-9T= (n.*231-9T=)
c.640-9T= (n.640-9T=)
c.574-9T= (n.574-9T=)
5g.42711200T>GCA559293430GHRc.619-7T>G (n.619-7T>G)
c.553-7T>G (n.553-7T>G)
c.*231-7T>G (n.*231-7T>G)
c.640-7T>G (n.640-7T>G)
c.574-7T>G (n.574-7T>G)
 dbSNP gnomAD v2 gnomAD v4
5g.42711200T=CA1542304728GHRc.619-7T= (n.619-7T=)
c.553-7T= (n.553-7T=)
c.*231-7T= (n.*231-7T=)
c.640-7T= (n.640-7T=)
c.574-7T= (n.574-7T=)
5g.42711201T>CCA2708906295GHRc.619-6T>C (n.619-6T>C)
c.553-6T>C (n.553-6T>C)
c.*231-6T>C (n.*231-6T>C)
c.640-6T>C (n.640-6T>C)
c.574-6T>C (n.574-6T>C)
 dbSNP
5g.42711201T>GCA2673724020GHRc.619-6T>G (n.619-6T>G)
c.553-6T>G (n.553-6T>G)
c.*231-6T>G (n.*231-6T>G)
c.640-6T>G (n.640-6T>G)
c.574-6T>G (n.574-6T>G)
 gnomAD v4
5g.42711202G>ACA1075490881GHRc.619-5G>A (n.619-5G>A)
c.553-5G>A (n.553-5G>A)
c.*231-5G>A (n.*231-5G>A)
c.640-5G>A (n.640-5G>A)
c.574-5G>A (n.574-5G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.42711202G=CA1542304730GHRc.619-5G= (n.619-5G=)
c.553-5G= (n.553-5G=)
c.*231-5G= (n.*231-5G=)
c.640-5G= (n.640-5G=)
c.574-5G= (n.574-5G=)
5g.42711204_42711206delinsAAGCA1542304731GHRc.619-3_619-1delinsAAG (n.619-3_619-1delinsAAG)
c.553-3_553-1delinsAAG (n.553-3_553-1delinsAAG)
c.*231-3_*231-1delinsAAG (n.*231-3_*231-1delinsAAG)
c.640-3_640-1delinsAAG (n.640-3_640-1delinsAAG)
c.574-3_574-1delinsAAG (n.574-3_574-1delinsAAG)
5g.42711205A>CCA359695779GHRc.619-2A>C (n.619-2A>C)
c.553-2A>C (n.553-2A>C)
c.*231-2A>C (n.*231-2A>C)
c.640-2A>C (n.640-2A>C)
c.574-2A>C (n.574-2A>C)
5g.42711205A>GCA359695780GHRc.619-2A>G (n.619-2A>G)
c.553-2A>G (n.553-2A>G)
c.*231-2A>G (n.*231-2A>G)
c.640-2A>G (n.640-2A>G)
c.574-2A>G (n.574-2A>G)
5g.42711205A>TCA359695781GHRc.619-2A>T (n.619-2A>T)
c.553-2A>T (n.553-2A>T)
c.*231-2A>T (n.*231-2A>T)
c.640-2A>T (n.640-2A>T)
c.574-2A>T (n.574-2A>T)
5g.42711206_42711207delCA559293431GHRc.619-1_619del
c.553-1_553del
c.*231-1_*231del
c.640-1_640del
c.574-1_574del
 dbSNP gnomAD v2 gnomAD v4
5g.42711206G>ACA359695782GHRc.619-1G>A (n.619-1G>A)
c.553-1G>A (n.553-1G>A)
c.*231-1G>A (n.*231-1G>A)
c.640-1G>A (n.640-1G>A)
c.574-1G>A (n.574-1G>A)
5g.42711206G>CCA359695783GHRc.619-1G>C (n.619-1G>C)
c.553-1G>C (n.553-1G>C)
c.*231-1G>C (n.*231-1G>C)
c.640-1G>C (n.640-1G>C)
c.574-1G>C (n.574-1G>C)
5g.42711206G=CA1542304736GHRc.619-1G= (n.619-1G=)
c.553-1G= (n.553-1G=)
c.*231-1G= (n.*231-1G=)
c.640-1G= (n.640-1G=)
c.574-1G= (n.574-1G=)
5g.42711206G>TCA212900GHRc.619-1G>T (n.619-1G>T)
c.553-1G>T (n.553-1G>T)
c.*231-1G>T (n.*231-1G>T)
c.640-1G>T (n.640-1G>T)
c.574-1G>T (n.574-1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.42711207A=CA1542304741GHRc.619A= (p.Met207=)
c.553A= (p.Met185=)
c.*231A= (n.*231A=)
c.640A= (p.Met214=)
c.574A= (p.Met192=)
5g.42711207A>CCA359695785GHRc.619A>C (p.Met207Leu)
c.553A>C (p.Met185Leu)
c.*231A>C (n.*231A>C)
c.640A>C (p.Met214Leu)
c.574A>C (p.Met192Leu)
5g.42711207A>GCA3254458GHRc.619A>G (p.Met207Val)
c.553A>G (p.Met185Val)
c.*231A>G (n.*231A>G)
c.640A>G (p.Met214Val)
c.574A>G (p.Met192Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.42711207A>TCA359695784GHRc.619A>T (p.Met207Leu)
c.553A>T (p.Met185Leu)
c.*231A>T (n.*231A>T)
c.640A>T (p.Met214Leu)
c.574A>T (p.Met192Leu)
5g.42711208T>ACA359695786GHRc.620T>A (p.Met207Lys)
c.554T>A (p.Met185Lys)
c.*232T>A (n.*232T>A)
c.641T>A (p.Met214Lys)
c.575T>A (p.Met192Lys)
5g.42711208T>CCA359695787GHRc.620T>C (p.Met207Thr)
c.554T>C (p.Met185Thr)
c.*232T>C (n.*232T>C)
c.641T>C (p.Met214Thr)
c.575T>C (p.Met192Thr)
 gnomAD v4 COSMIC
5g.42711208T>GCA359695788GHRc.620T>G (p.Met207Arg)
c.554T>G (p.Met185Arg)
c.*232T>G (n.*232T>G)
c.641T>G (p.Met214Arg)
c.575T>G (p.Met192Arg)
 gnomAD v4
5g.42711209G>ACA359695789GHRc.621G>A (p.Met207Ile)
c.555G>A (p.Met185Ile)
c.*233G>A (n.*233G>A)
c.642G>A (p.Met214Ile)
c.576G>A (p.Met192Ile)
5g.42711209G>CCA359695790GHRc.621G>C (p.Met207Ile)
c.555G>C (p.Met185Ile)
c.*233G>C (n.*233G>C)
c.642G>C (p.Met214Ile)
c.576G>C (p.Met192Ile)
5g.42711209G>TCA359695791GHRc.621G>T (p.Met207Ile)
c.555G>T (p.Met185Ile)
c.*233G>T (n.*233G>T)
c.642G>T (p.Met214Ile)
c.576G>T (p.Met192Ile)
5g.42711210delCA2673724021GHRc.622del (p.Asp208ThrfsTer4)
c.556del (p.Asp186ThrfsTer4)
c.*234del (n.*234del)
c.643del (p.Asp215ThrfsTer4)
c.577del (p.Asp193ThrfsTer4)
 gnomAD v4
5g.42711210G>ACA359695792GHRc.622G>A (p.Asp208Asn)
c.556G>A (p.Asp186Asn)
c.*234G>A (n.*234G>A)
c.643G>A (p.Asp215Asn)
c.577G>A (p.Asp193Asn)
 COSMIC
5g.42711210G>CCA359695793GHRc.622G>C (p.Asp208His)
c.556G>C (p.Asp186His)
c.*234G>C (n.*234G>C)
c.643G>C (p.Asp215His)
c.577G>C (p.Asp193His)
5g.42711210G>TCA359695794GHRc.622G>T (p.Asp208Tyr)
c.556G>T (p.Asp186Tyr)
c.*234G>T (n.*234G>T)
c.643G>T (p.Asp215Tyr)
c.577G>T (p.Asp193Tyr)
 gnomAD v4
5g.42711211A=CA1542304744GHRc.623A= (p.Asp208=)
c.557A= (p.Asp186=)
c.*235A= (n.*235A=)
c.644A= (p.Asp215=)
c.578A= (p.Asp193=)
5g.42711211A>CCA359695795GHRc.623A>C (p.Asp208Ala)
c.557A>C (p.Asp186Ala)
c.*235A>C (n.*235A>C)
c.644A>C (p.Asp215Ala)
c.578A>C (p.Asp193Ala)
5g.42711211A>GCA359695796GHRc.623A>G (p.Asp208Gly)
c.557A>G (p.Asp186Gly)
c.*235A>G (n.*235A>G)
c.644A>G (p.Asp215Gly)
c.578A>G (p.Asp193Gly)
 dbSNP gnomAD v3 gnomAD v4
5g.42711211A>TCA359695797GHRc.623A>T (p.Asp208Val)
c.557A>T (p.Asp186Val)
c.*235A>T (n.*235A>T)
c.644A>T (p.Asp215Val)
c.578A>T (p.Asp193Val)
5g.42711212C>ACA359695799GHRc.624C>A (p.Asp208Glu)
c.558C>A (p.Asp186Glu)
c.*236C>A (n.*236C>A)
c.645C>A (p.Asp215Glu)
c.579C>A (p.Asp193Glu)
5g.42711212C>GCA359695798GHRc.624C>G (p.Asp208Glu)
c.558C>G (p.Asp186Glu)
c.*236C>G (n.*236C>G)
c.645C>G (p.Asp215Glu)
c.579C>G (p.Asp193Glu)
5g.42711212C>TCA443847411GHRc.624C>T (p.Asp208=)
c.558C>T (p.Asp186=)
c.*236C>T (n.*236C>T)
c.645C>T (p.Asp215=)
c.579C>T (p.Asp193=)
5g.42711213C>ACA359695800GHRc.625C>A (p.Pro209Thr)
c.559C>A (p.Pro187Thr)
c.*237C>A (n.*237C>A)
c.646C>A (p.Pro216Thr)
c.580C>A (p.Pro194Thr)
5g.42711213C>GCA359695801GHRc.625C>G (p.Pro209Ala)
c.559C>G (p.Pro187Ala)
c.*237C>G (n.*237C>G)
c.646C>G (p.Pro216Ala)
c.580C>G (p.Pro194Ala)

Number of alleles fetched