Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.111118971_111118977delCA2767910307WDR36c.1797-42_1797-36del (n.1797-42_1797-36del)
c.1965-42_1965-36del (n.1965-42_1965-36del)
5g.111118974A=CA1572628295WDR36c.1797-39A= (n.1797-39A=)
c.1965-39A= (n.1965-39A=)
5g.111118974A>GCA3365870WDR36c.1797-39A>G (n.1797-39A>G)
c.1965-39A>G (n.1965-39A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111118974A>TCA2674832873WDR36c.1797-39A>T (n.1797-39A>T)
c.1965-39A>T (n.1965-39A>T)
gnomAD v4
5g.111118974_111118975insCAACA2767910308WDR36c.1797-39_1797-38insCAA (n.1797-39_1797-38insCAA)
c.1965-39_1965-38insCAA (n.1965-39_1965-38insCAA)
5g.111118976_111118977delCA2674832872WDR36c.1797-37_1797-36del (n.1797-37_1797-36del)
c.1965-37_1965-36del (n.1965-37_1965-36del)
gnomAD v4
5g.111118975G>ACA2709733728WDR36c.1797-38G>A (n.1797-38G>A)
c.1965-38G>A (n.1965-38G>A)
dbSNP
5g.111118975G>CCA124932344WDR36c.1797-38G>C (n.1797-38G>C)
c.1965-38G>C (n.1965-38G>C)
dbSNP gnomAD v3 gnomAD v4
5g.111118975G=CA1572628296WDR36c.1797-38G= (n.1797-38G=)
c.1965-38G= (n.1965-38G=)
5g.111118975G>TCA2674832874WDR36c.1797-38G>T (n.1797-38G>T)
c.1965-38G>T (n.1965-38G>T)
gnomAD v4
5g.111118976A>GCA2674832875WDR36c.1797-37A>G (n.1797-37A>G)
c.1965-37A>G (n.1965-37A>G)
gnomAD v4
5g.111118977G>CCA801886310WDR36c.1797-36G>C (n.1797-36G>C)
c.1965-36G>C (n.1965-36G>C)
dbSNP gnomAD v3 gnomAD v4
5g.111118977G=CA1572628297WDR36c.1797-36G= (n.1797-36G=)
c.1965-36G= (n.1965-36G=)
5g.111118977G>TCA2674832876WDR36c.1797-36G>T (n.1797-36G>T)
c.1965-36G>T (n.1965-36G>T)
gnomAD v4
5g.111118980C>ACA2674832877WDR36c.1797-33C>A (n.1797-33C>A)
c.1965-33C>A (n.1965-33C>A)
gnomAD v4
5g.111118980C>GCA2674832878WDR36c.1797-33C>G (n.1797-33C>G)
c.1965-33C>G (n.1965-33C>G)
gnomAD v4
5g.111118980_111118981delCA2767910309WDR36c.1797-33_1797-32del (n.1797-33_1797-32del)
c.1965-33_1965-32del (n.1965-33_1965-32del)
5g.111118981A=CA1572628298WDR36c.1797-32A= (n.1797-32A=)
c.1965-32A= (n.1965-32A=)
5g.111118981A>CCA2674832879WDR36c.1797-32A>C (n.1797-32A>C)
c.1965-32A>C (n.1965-32A>C)
gnomAD v4
5g.111118981A>GCA3365871WDR36c.1797-32A>G (n.1797-32A>G)
c.1965-32A>G (n.1965-32A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111118981_111118982insTTTTTTTTTCA2767910310WDR36c.1797-32_1797-31insTTTTTTTTT (n.1797-32_1797-31insTTTTTTTTT)
c.1965-32_1965-31insTTTTTTTTT (n.1965-32_1965-31insTTTTTTTTT)
5g.111118983A=CA1572628299WDR36c.1797-30A= (n.1797-30A=)
c.1965-30A= (n.1965-30A=)
5g.111118983A>CCA124932373WDR36c.1797-30A>C (n.1797-30A>C)
c.1965-30A>C (n.1965-30A>C)
dbSNP
5g.111118983A>GCA3365872WDR36c.1797-30A>G (n.1797-30A>G)
c.1965-30A>G (n.1965-30A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111118983A>TCA124932378WDR36c.1797-30A>T (n.1797-30A>T)
c.1965-30A>T (n.1965-30A>T)
dbSNP
5g.111118985A=CA1572628300WDR36c.1797-28A= (n.1797-28A=)
c.1965-28A= (n.1965-28A=)
5g.111118985A>GCA561883933WDR36c.1797-28A>G (n.1797-28A>G)
c.1965-28A>G (n.1965-28A>G)
dbSNP gnomAD v2 gnomAD v4
5g.111118986C>ACA2674832880WDR36c.1797-27C>A (n.1797-27C>A)
c.1965-27C>A (n.1965-27C>A)
gnomAD v4
5g.111118986C=CA1572628301WDR36c.1797-27C= (n.1797-27C=)
c.1965-27C= (n.1965-27C=)
5g.111118986C>GCA3365873WDR36c.1797-27C>G (n.1797-27C>G)
c.1965-27C>G (n.1965-27C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111118986C>TCA2674832881WDR36c.1797-27C>T (n.1797-27C>T)
c.1965-27C>T (n.1965-27C>T)
gnomAD v4
5g.111118986_111118987delinsCTCA1572628302WDR36c.1797-27_1797-26delinsCT (n.1797-27_1797-26delinsCT)
c.1965-27_1965-26delinsCT (n.1965-27_1965-26delinsCT)
5g.111118990delCA801886318WDR36c.1797-23del (n.1797-23del)
c.1965-23del (n.1965-23del)
dbSNP gnomAD v4
5g.111118989T>ACA2674832882WDR36c.1797-24T>A (n.1797-24T>A)
c.1965-24T>A (n.1965-24T>A)
gnomAD v4
5g.111118989T>CCA2709830064WDR36c.1797-24T>C (n.1797-24T>C)
c.1965-24T>C (n.1965-24T>C)
dbSNP
5g.111118990T>ACA561883937WDR36c.1797-23T>A (n.1797-23T>A)
c.1965-23T>A (n.1965-23T>A)
dbSNP gnomAD v2 gnomAD v4
5g.111118990T=CA1572628303WDR36c.1797-23T= (n.1797-23T=)
c.1965-23T= (n.1965-23T=)
5g.111118991A>TCA2674832884WDR36c.1797-22A>T (n.1797-22A>T)
c.1965-22A>T (n.1965-22A>T)
gnomAD v4
5g.111119000_111119001insAAGTATTTGAACATGTTAACA2674832883WDR36c.1797-13_1797-12insAAGTATTTGAACATGTTAA (n.1797-13_1797-12insAAGTATTTGAACATGTTAA)
c.1965-13_1965-12insAAGTATTTGAACATGTTAA (n.1965-13_1965-12insAAGTATTTGAACATGTTAA)
gnomAD v4
5g.111118992A=CA1572628304WDR36c.1797-21A= (n.1797-21A=)
c.1965-21A= (n.1965-21A=)
5g.111118992A>GCA3365874WDR36c.1797-21A>G (n.1797-21A>G)
c.1965-21A>G (n.1965-21A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111118993C>ACA2674832885WDR36c.1797-20C>A (n.1797-20C>A)
c.1965-20C>A (n.1965-20C>A)
gnomAD v4
5g.111118993C=CA1572628305WDR36c.1797-20C= (n.1797-20C=)
c.1965-20C= (n.1965-20C=)
5g.111118993C>TCA3365875WDR36c.1797-20C>T (n.1797-20C>T)
c.1965-20C>T (n.1965-20C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111118994A=CA1572628306WDR36c.1797-19A= (n.1797-19A=)
c.1965-19A= (n.1965-19A=)
5g.111118994A>GCA3365876WDR36c.1797-19A>G (n.1797-19A>G)
c.1965-19A>G (n.1965-19A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111118994_111118995delCA2578377217WDR36c.1797-19_1797-18del (n.1797-19_1797-18del)
c.1965-19_1965-18del (n.1965-19_1965-18del)
5g.111118995T>ACA2674832887WDR36c.1797-18T>A (n.1797-18T>A)
c.1965-18T>A (n.1965-18T>A)
gnomAD v4
5g.111118995T>CCA3365877WDR36c.1797-18T>C (n.1797-18T>C)
c.1965-18T>C (n.1965-18T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111118995T>GCA2674832886WDR36c.1797-18T>G (n.1797-18T>G)
c.1965-18T>G (n.1965-18T>G)
gnomAD v4
5g.111118995T=CA1572628307WDR36c.1797-18T= (n.1797-18T=)
c.1965-18T= (n.1965-18T=)
5g.111118996G>ACA2674832888WDR36c.1797-17G>A (n.1797-17G>A)
c.1965-17G>A (n.1965-17G>A)
gnomAD v4
5g.111118996_111119000delinsGTTAACA1572628308WDR36c.1797-17_1797-13delinsGTTAA (n.1797-17_1797-13delinsGTTAA)
c.1965-17_1965-13delinsGTTAA (n.1965-17_1965-13delinsGTTAA)
5g.111119000_111119003delCA1080095917WDR36c.1797-13_1797-10del (n.1797-13_1797-10del)
c.1965-13_1965-10del (n.1965-13_1965-10del)
dbSNP gnomAD v3 gnomAD v4
5g.111118998T>GCA124932414WDR36c.1797-15T>G (n.1797-15T>G)
c.1965-15T>G (n.1965-15T>G)
dbSNP
5g.111118998T=CA1572628309WDR36c.1797-15T= (n.1797-15T=)
c.1965-15T= (n.1965-15T=)
5g.111118999A=CA1572628310WDR36c.1797-14A= (n.1797-14A=)
c.1965-14A= (n.1965-14A=)
5g.111118999A>CCA3365878WDR36c.1797-14A>C (n.1797-14A>C)
c.1965-14A>C (n.1965-14A>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111118999A>GCA2674832889WDR36c.1797-14A>G (n.1797-14A>G)
c.1965-14A>G (n.1965-14A>G)
gnomAD v4
5g.111118999A>TCA1572628311WDR36c.1797-14A>T (n.1797-14A>T)
c.1965-14A>T (n.1965-14A>T)
dbSNP gnomAD v4
5g.111119000A=CA1572628312WDR36c.1797-13A= (n.1797-13A=)
c.1965-13A= (n.1965-13A=)
5g.111119000A>TCA3365879WDR36c.1797-13A>T (n.1797-13A>T)
c.1965-13A>T (n.1965-13A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119001T>CCA3365880WDR36c.1797-12T>C (n.1797-12T>C)
c.1965-12T>C (n.1965-12T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119001T=CA1572628313WDR36c.1797-12T= (n.1797-12T=)
c.1965-12T= (n.1965-12T=)
5g.111119003A>TCA2767910311WDR36c.1797-10A>T (n.1797-10A>T)
c.1965-10A>T (n.1965-10A>T)
5g.111119004T>CCA2578377218WDR36c.1797-9T>C (n.1797-9T>C)
c.1965-9T>C (n.1965-9T>C)
gnomAD v4
5g.111119005T>GCA2674832890WDR36c.1797-8T>G (n.1797-8T>G)
c.1965-8T>G (n.1965-8T>G)
gnomAD v4
5g.111119007C>ACA2674832891WDR36c.1797-6C>A (n.1797-6C>A)
c.1965-6C>A (n.1965-6C>A)
gnomAD v4
5g.111119007C>TCA2674832892WDR36c.1797-6C>T (n.1797-6C>T)
c.1965-6C>T (n.1965-6C>T)
gnomAD v4
5g.111119008T>CCA2674832893WDR36c.1797-5T>C (n.1797-5T>C)
c.1965-5T>C (n.1965-5T>C)
gnomAD v4
5g.111119009G>ACA124932462WDR36c.1797-4G>A (n.1797-4G>A)
c.1965-4G>A (n.1965-4G>A)
dbSNP gnomAD v2 gnomAD v4
5g.111119009G>CCA2534469405WDR36c.1797-4G>C (n.1797-4G>C)
c.1965-4G>C (n.1965-4G>C)
5g.111119009G=CA1572628314WDR36c.1797-4G= (n.1797-4G=)
c.1965-4G= (n.1965-4G=)
5g.111119009G>TCA2674832894WDR36c.1797-4G>T (n.1797-4G>T)
c.1965-4G>T (n.1965-4G>T)
gnomAD v4
5g.111119011A>CCA360613423WDR36c.1797-2A>C (n.1797-2A>C)
c.1965-2A>C (n.1965-2A>C)
5g.111119011A>GCA360613424WDR36c.1797-2A>G (n.1797-2A>G)
c.1965-2A>G (n.1965-2A>G)
5g.111119011A>TCA360613425WDR36c.1797-2A>T (n.1797-2A>T)
c.1965-2A>T (n.1965-2A>T)
5g.111119012G>ACA360613426WDR36c.1797-1G>A (n.1797-1G>A)
c.1965-1G>A (n.1965-1G>A)
5g.111119012G>CCA360613427WDR36c.1797-1G>C (n.1797-1G>C)
c.1965-1G>C (n.1965-1G>C)
5g.111119012G=CA1572628315WDR36c.1797-1G= (n.1797-1G=)
c.1965-1G= (n.1965-1G=)
5g.111119012G>TCA360613428WDR36c.1797-1G>T (n.1797-1G>T)
c.1965-1G>T (n.1965-1G>T)
dbSNP gnomAD v2
5g.111119013C>ACA360613429WDR36c.1797C>A (p.Cys599Ter)
c.1965C>A (p.Cys655Ter)
5g.111119013C>GCA360613430WDR36c.1797C>G (p.Cys599Trp)
c.1965C>G (p.Cys655Trp)
5g.111119013C>TCA445744812WDR36c.1797C>T (p.Cys599=)
c.1965C>T (p.Cys655=)
5g.111119014C>ACA360613431WDR36c.1798C>A (p.Leu600Ile)
c.1966C>A (p.Leu656Ile)
5g.111119014C=CA1572628317WDR36c.1798C= (p.Leu600=)
c.1966C= (p.Leu656=)
5g.111119014C>GCA360613432WDR36c.1798C>G (p.Leu600Val)
c.1966C>G (p.Leu656Val)
dbSNP
5g.111119014C>TCA360613433WDR36c.1798C>T (p.Leu600Phe)
c.1966C>T (p.Leu656Phe)
gnomAD v4
5g.111119014_111119016delinsCTTCA1572628316WDR36c.1798_1800delinsCTT (p.Leu600=)
c.1966_1968delinsCTT (p.Leu656=)
5g.111119015T>ACA360613434WDR36c.1799T>A (p.Leu600His)
c.1967T>A (p.Leu656His)
5g.111119015T>CCA360613435WDR36c.1799T>C (p.Leu600Pro)
c.1967T>C (p.Leu656Pro)
5g.111119015T>GCA3365881WDR36c.1799T>G (p.Leu600Arg)
c.1967T>G (p.Leu656Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119015T=CA1572628318WDR36c.1799T= (p.Leu600=)
c.1967T= (p.Leu656=)
5g.111119015_111119016delCA561883950WDR36c.1799_1800del (p.Leu600HisfsTer?)
c.1967_1968del (p.Leu656HisfsTer?)
dbSNP gnomAD v2 gnomAD v4
5g.111119016T>ACA445744813WDR36c.1800T>A (p.Leu600=)
c.1968T>A (p.Leu656=)
5g.111119016T>CCA445744814WDR36c.1800T>C (p.Leu600=)
c.1968T>C (p.Leu656=)
gnomAD v4
5g.111119016T>GCA445744815WDR36c.1800T>G (p.Leu600=)
c.1968T>G (p.Leu656=)
5g.111119017A=CA1572628319WDR36c.1801A= (p.Ile601=)
c.1969A= (p.Ile657=)
5g.111119017A>CCA360613436WDR36c.1801A>C (p.Ile601Leu)
c.1969A>C (p.Ile657Leu)
COSMIC
5g.111119017A>GCA124932467WDR36c.1801A>G (p.Ile601Val)
c.1969A>G (p.Ile657Val)
dbSNP gnomAD v2 gnomAD v4
5g.111119017A>TCA360613437WDR36c.1801A>T (p.Ile601Leu)
c.1969A>T (p.Ile657Leu)
gnomAD v4
5g.111119018T>ACA360613438WDR36c.1802T>A (p.Ile601Lys)
c.1970T>A (p.Ile657Lys)
5g.111119018T>CCA360613439WDR36c.1802T>C (p.Ile601Thr)
c.1970T>C (p.Ile657Thr)
gnomAD v4
5g.111119018T>GCA360613440WDR36c.1802T>G (p.Ile601Arg)
c.1970T>G (p.Ile657Arg)
dbSNP gnomAD v3 gnomAD v4
5g.111119018T=CA1572628320WDR36c.1802T= (p.Ile601=)
c.1970T= (p.Ile657=)
5g.111119019A>CCA445744817WDR36c.1803A>C (p.Ile601=)
c.1971A>C (p.Ile657=)
5g.111119019A>GCA360613441WDR36c.1803A>G (p.Ile601Met)
c.1971A>G (p.Ile657Met)
COSMIC
5g.111119019A>TCA445744816WDR36c.1803A>T (p.Ile601=)
c.1971A>T (p.Ile657=)
5g.111119020G>ACA360613442WDR36c.1804G>A (p.Asp602Asn)
c.1972G>A (p.Asp658Asn)
5g.111119020G>CCA360613443WDR36c.1804G>C (p.Asp602His)
c.1972G>C (p.Asp658His)
ClinVar dbSNP gnomAD v4
5g.111119020G=CA1572628321WDR36c.1804G= (p.Asp602=)
c.1972G= (p.Asp658=)
5g.111119020G>TCA360613444WDR36c.1804G>T (p.Asp602Tyr)
c.1972G>T (p.Asp658Tyr)
gnomAD v4
5g.111119021A=CA1572628322WDR36c.1805A= (p.Asp602=)
c.1973A= (p.Asp658=)
5g.111119021A>CCA360613445WDR36c.1805A>C (p.Asp602Ala)
c.1973A>C (p.Asp658Ala)
5g.111119021A>GCA115071WDR36c.1805A>G (p.Asp602Gly)
c.1973A>G (p.Asp658Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119021A>TCA360613446WDR36c.1805A>T (p.Asp602Val)
c.1973A>T (p.Asp658Val)
5g.111119022C>ACA360613448WDR36c.1806C>A (p.Asp602Glu)
c.1974C>A (p.Asp658Glu)
5g.111119022C=CA1572628323WDR36c.1806C= (p.Asp602=)
c.1974C= (p.Asp658=)
5g.111119022C>GCA360613447WDR36c.1806C>G (p.Asp602Glu)
c.1974C>G (p.Asp658Glu)
dbSNP gnomAD v2 gnomAD v4
5g.111119022C>TCA3365882WDR36c.1806C>T (p.Asp602=)
c.1974C>T (p.Asp658=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119023T>ACA360613449WDR36c.1807T>A (p.Cys603Ser)
c.1975T>A (p.Cys659Ser)
gnomAD v4
5g.111119023T>CCA360613451WDR36c.1807T>C (p.Cys603Arg)
c.1975T>C (p.Cys659Arg)
5g.111119023T>GCA360613450WDR36c.1807T>G (p.Cys603Gly)
c.1975T>G (p.Cys659Gly)
5g.111119024G>ACA360613452WDR36c.1808G>A (p.Cys603Tyr)
c.1976G>A (p.Cys659Tyr)
5g.111119024G>CCA360613453WDR36c.1808G>C (p.Cys603Ser)
c.1976G>C (p.Cys659Ser)
5g.111119024G>TCA360613454WDR36c.1808G>T (p.Cys603Phe)
c.1976G>T (p.Cys659Phe)
5g.111119025C>ACA360613455WDR36c.1809C>A (p.Cys603Ter)
c.1977C>A (p.Cys659Ter)
5g.111119025C>GCA360613456WDR36c.1809C>G (p.Cys603Trp)
c.1977C>G (p.Cys659Trp)
gnomAD v4
5g.111119025C>TCA445744818WDR36c.1809C>T (p.Cys603=)
c.1977C>T (p.Cys659=)
5g.111119026T>ACA360613457WDR36c.1810T>A (p.Phe604Ile)
c.1978T>A (p.Phe660Ile)
5g.111119026T>CCA360613458WDR36c.1810T>C (p.Phe604Leu)
c.1978T>C (p.Phe660Leu)
5g.111119026T>GCA360613459WDR36c.1810T>G (p.Phe604Val)
c.1978T>G (p.Phe660Val)
5g.111119030delCA2578377219WDR36c.1814del (p.Leu605CysfsTer?)
c.1982del (p.Leu661CysfsTer?)
5g.111119027T>ACA360613460WDR36c.1811T>A (p.Phe604Tyr)
c.1979T>A (p.Phe660Tyr)
5g.111119027T>CCA360613461WDR36c.1811T>C (p.Phe604Ser)
c.1979T>C (p.Phe660Ser)
5g.111119027T>GCA360613462WDR36c.1811T>G (p.Phe604Cys)
c.1979T>G (p.Phe660Cys)
5g.111119028T>ACA360613463WDR36c.1812T>A (p.Phe604Leu)
c.1980T>A (p.Phe660Leu)
5g.111119028T>CCA445744819WDR36c.1812T>C (p.Phe604=)
c.1980T>C (p.Phe660=)
5g.111119028T>GCA360613464WDR36c.1812T>G (p.Phe604Leu)
c.1980T>G (p.Phe660Leu)
5g.111119029T>ACA360613465WDR36c.1813T>A (p.Leu605Met)
c.1981T>A (p.Leu661Met)
5g.111119029T>CCA3365883WDR36c.1813T>C (p.Leu605=)
c.1981T>C (p.Leu661=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119029T>GCA360613466WDR36c.1813T>G (p.Leu605Val)
c.1981T>G (p.Leu661Val)
5g.111119029T=CA1572628324WDR36c.1813T= (p.Leu605=)
c.1981T= (p.Leu661=)
5g.111119030T>ACA360613467WDR36c.1814T>A (p.Leu605Ter)
c.1982T>A (p.Leu661Ter)
5g.111119030T>CCA360613468WDR36c.1814T>C (p.Leu605Ser)
c.1982T>C (p.Leu661Ser)
5g.111119030T>GCA360613469WDR36c.1814T>G (p.Leu605Trp)
c.1982T>G (p.Leu661Trp)
dbSNP gnomAD v4
5g.111119030T=CA1572628325WDR36c.1814T= (p.Leu605=)
c.1982T= (p.Leu661=)
5g.111119031G>ACA445744820WDR36c.1815G>A (p.Leu605=)
c.1983G>A (p.Leu661=)
gnomAD v4
5g.111119031G>CCA360613470WDR36c.1815G>C (p.Leu605Phe)
c.1983G>C (p.Leu661Phe)
5g.111119031G>TCA360613471WDR36c.1815G>T (p.Leu605Phe)
c.1983G>T (p.Leu661Phe)
5g.111119032T>ACA360613472WDR36c.1816T>A (p.Leu606Met)
c.1984T>A (p.Leu662Met)
5g.111119032T>CCA445744821WDR36c.1816T>C (p.Leu606=)
c.1984T>C (p.Leu662=)
gnomAD v4
5g.111119032T>GCA360613473WDR36c.1816T>G (p.Leu606Val)
c.1984T>G (p.Leu662Val)
5g.111119033T>ACA360613474WDR36c.1817T>A (p.Leu606Ter)
c.1985T>A (p.Leu662Ter)
5g.111119033T>CCA360613475WDR36c.1817T>C (p.Leu606Ser)
c.1985T>C (p.Leu662Ser)
5g.111119033T>GCA360613476WDR36c.1817T>G (p.Leu606Trp)
c.1985T>G (p.Leu662Trp)
dbSNP gnomAD v3 gnomAD v4
5g.111119033T=CA1572628326WDR36c.1817T= (p.Leu606=)
c.1985T= (p.Leu662=)
5g.111119034G>ACA124932496WDR36c.1818G>A (p.Leu606=)
c.1986G>A (p.Leu662=)
dbSNP gnomAD v3 gnomAD v4
5g.111119034G>CCA360613478WDR36c.1818G>C (p.Leu606Phe)
c.1986G>C (p.Leu662Phe)
5g.111119034G=CA1572628327WDR36c.1818G= (p.Leu606=)
c.1986G= (p.Leu662=)
5g.111119034G>TCA360613477WDR36c.1818G>T (p.Leu606Phe)
c.1986G>T (p.Leu662Phe)
5g.111119035G>ACA360613481WDR36c.1819G>A (p.Asp607Asn)
c.1987G>A (p.Asp663Asn)
gnomAD v4
5g.111119035G>CCA360613479WDR36c.1819G>C (p.Asp607His)
c.1987G>C (p.Asp663His)
5g.111119035G>TCA360613480WDR36c.1819G>T (p.Asp607Tyr)
c.1987G>T (p.Asp663Tyr)
5g.111119036A>CCA360613482WDR36c.1820A>C (p.Asp607Ala)
c.1988A>C (p.Asp663Ala)
5g.111119036A>GCA360613483WDR36c.1820A>G (p.Asp607Gly)
c.1988A>G (p.Asp663Gly)
5g.111119036A>TCA360613484WDR36c.1820A>T (p.Asp607Val)
c.1988A>T (p.Asp663Val)
5g.111119037C>ACA360613485WDR36c.1821C>A (p.Asp607Glu)
c.1989C>A (p.Asp663Glu)
5g.111119037C>GCA360613486WDR36c.1821C>G (p.Asp607Glu)
c.1989C>G (p.Asp663Glu)
5g.111119037C>TCA445744822WDR36c.1821C>T (p.Asp607=)
c.1989C>T (p.Asp663=)
5g.111119038T>ACA360613487WDR36c.1822T>A (p.Ser608Thr)
c.1990T>A (p.Ser664Thr)
5g.111119038T>CCA360613489WDR36c.1822T>C (p.Ser608Pro)
c.1990T>C (p.Ser664Pro)
5g.111119038T>GCA360613488WDR36c.1822T>G (p.Ser608Ala)
c.1990T>G (p.Ser664Ala)
5g.111119039C>ACA360613490WDR36c.1823C>A (p.Ser608Ter)
c.1991C>A (p.Ser664Ter)
5g.111119039C=CA1572628328WDR36c.1823C= (p.Ser608=)
c.1991C= (p.Ser664=)
5g.111119039C>GCA360613491WDR36c.1823C>G (p.Ser608Trp)
c.1991C>G (p.Ser664Trp)
dbSNP gnomAD v2 gnomAD v4
5g.111119039C>TCA3365884WDR36c.1823C>T (p.Ser608Leu)
c.1991C>T (p.Ser664Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119040G>ACA3365885WDR36c.1824G>A (p.Ser608=)
c.1992G>A (p.Ser664=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.111119040G>CCA445744823WDR36c.1824G>C (p.Ser608=)
c.1992G>C (p.Ser664=)
5g.111119040G=CA1572628329WDR36c.1824G= (p.Ser608=)
c.1992G= (p.Ser664=)
5g.111119040G>TCA445744824WDR36c.1824G>T (p.Ser608=)
c.1992G>T (p.Ser664=)
gnomAD v4
5g.111119041G>ACA360613492WDR36c.1825G>A (p.Ala609Thr)
c.1993G>A (p.Ala665Thr)
5g.111119041G>CCA360613494WDR36c.1825G>C (p.Ala609Pro)
c.1993G>C (p.Ala665Pro)
5g.111119041G>TCA360613493WDR36c.1825G>T (p.Ala609Ser)
c.1993G>T (p.Ala665Ser)
5g.111119042C>ACA360613495WDR36c.1826C>A (p.Ala609Asp)
c.1994C>A (p.Ala665Asp)
5g.111119042C=CA1572628330WDR36c.1826C= (p.Ala609=)
c.1994C= (p.Ala665=)
5g.111119042C>GCA360613496WDR36c.1826C>G (p.Ala609Gly)
c.1994C>G (p.Ala665Gly)
5g.111119042C>TCA124932505WDR36c.1826C>T (p.Ala609Val)
c.1994C>T (p.Ala665Val)
dbSNP gnomAD v4
5g.111119043T>ACA445744825WDR36c.1827T>A (p.Ala609=)
c.1995T>A (p.Ala665=)
gnomAD v4
5g.111119043T>CCA445744826WDR36c.1827T>C (p.Ala609=)
c.1995T>C (p.Ala665=)
5g.111119043T>GCA445744827WDR36c.1827T>G (p.Ala609=)
c.1995T>G (p.Ala665=)
5g.111119044C>ACA360613497WDR36c.1828C>A (p.Pro610Thr)
c.1996C>A (p.Pro666Thr)
5g.111119044C=CA1572628331WDR36c.1828C= (p.Pro610=)
c.1996C= (p.Pro666=)
5g.111119044C>GCA360613498WDR36c.1828C>G (p.Pro610Ala)
c.1996C>G (p.Pro666Ala)
gnomAD v4
5g.111119044C>TCA360613499WDR36c.1828C>T (p.Pro610Ser)
c.1996C>T (p.Pro666Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.111119045delCA2674832895WDR36c.1829del (p.Pro610LeufsTer?)
c.1997del (p.Pro666LeufsTer?)
gnomAD v4
5g.111119045C>ACA360613500WDR36c.1829C>A (p.Pro610His)
c.1997C>A (p.Pro666His)
5g.111119045C>GCA360613501WDR36c.1829C>G (p.Pro610Arg)
c.1997C>G (p.Pro666Arg)
5g.111119045C>TCA360613502WDR36c.1829C>T (p.Pro610Leu)
c.1997C>T (p.Pro666Leu)
5g.111119048_111119049delCA2674832896WDR36c.1832_1833del (p.Leu611GlnfsTer?)
c.2000_2001del (p.Leu667GlnfsTer?)
gnomAD v4
5g.111119046T>ACA445744828WDR36c.1830T>A (p.Pro610=)
c.1998T>A (p.Pro666=)
5g.111119046T>CCA445744829WDR36c.1830T>C (p.Pro610=)
c.1998T>C (p.Pro666=)
5g.111119046T>GCA445744830WDR36c.1830T>G (p.Pro610=)
c.1998T>G (p.Pro666=)
5g.111119047C>ACA360613503WDR36c.1831C>A (p.Leu611Ile)
c.1999C>A (p.Leu667Ile)
5g.111119047C>GCA360613504WDR36c.1831C>G (p.Leu611Val)
c.1999C>G (p.Leu667Val)
5g.111119047C>TCA360613505WDR36c.1831C>T (p.Leu611Phe)
c.1999C>T (p.Leu667Phe)
5g.111119048T>ACA360613507WDR36c.1832T>A (p.Leu611His)
c.2000T>A (p.Leu667His)
5g.111119048T>CCA360613508WDR36c.1832T>C (p.Leu611Pro)
c.2000T>C (p.Leu667Pro)
5g.111119048T>GCA360613506WDR36c.1832T>G (p.Leu611Arg)
c.2000T>G (p.Leu667Arg)
5g.111119049C>ACA445744831WDR36c.1833C>A (p.Leu611=)
c.2001C>A (p.Leu667=)
5g.111119049C>GCA445744832WDR36c.1833C>G (p.Leu611=)
c.2001C>G (p.Leu667=)
5g.111119049C>TCA445744833WDR36c.1833C>T (p.Leu611=)
c.2001C>T (p.Leu667=)
gnomAD v4
5g.111119050A=CA1572628332WDR36c.1834A= (p.Asn612=)
c.2002A= (p.Asn668=)
5g.111119050A>CCA360613509WDR36c.1834A>C (p.Asn612His)
c.2002A>C (p.Asn668His)
dbSNP gnomAD v2 gnomAD v4
5g.111119050A>GCA360613511WDR36c.1834A>G (p.Asn612Asp)
c.2002A>G (p.Asn668Asp)
5g.111119050A>TCA360613510WDR36c.1834A>T (p.Asn612Tyr)
c.2002A>T (p.Asn668Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.111119051A=CA1572628333WDR36c.1835A= (p.Asn612=)
c.2003A= (p.Asn668=)
5g.111119051A>CCA360613512WDR36c.1835A>C (p.Asn612Thr)
c.2003A>C (p.Asn668Thr)
5g.111119051A>GCA3365886WDR36c.1835A>G (p.Asn612Ser)
c.2003A>G (p.Asn668Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119051A>TCA360613513WDR36c.1835A>T (p.Asn612Ile)
c.2003A>T (p.Asn668Ile)
COSMIC
5g.111119052T>ACA360613514WDR36c.1836T>A (p.Asn612Lys)
c.2004T>A (p.Asn668Lys)
dbSNP gnomAD v3 gnomAD v4
5g.111119052T>CCA445744834WDR36c.1836T>C (p.Asn612=)
c.2004T>C (p.Asn668=)
5g.111119052T>GCA360613515WDR36c.1836T>G (p.Asn612Lys)
c.2004T>G (p.Asn668Lys)
5g.111119052T=CA1572628334WDR36c.1836T= (p.Asn612=)
c.2004T= (p.Asn668=)
5g.111119053G>ACA360613516WDR36c.1837G>A (p.Val613Ile)
c.2005G>A (p.Val669Ile)
dbSNP
5g.111119053G>CCA360613517WDR36c.1837G>C (p.Val613Leu)
c.2005G>C (p.Val669Leu)
5g.111119053G=CA1572628335WDR36c.1837G= (p.Val613=)
c.2005G= (p.Val669=)
5g.111119053G>TCA360613518WDR36c.1837G>T (p.Val613Phe)
c.2005G>T (p.Val669Phe)
gnomAD v4
5g.111119054T>ACA360613519WDR36c.1838T>A (p.Val613Asp)
c.2006T>A (p.Val669Asp)
5g.111119054T>CCA360613520WDR36c.1838T>C (p.Val613Ala)
c.2006T>C (p.Val669Ala)
5g.111119054T>GCA360613521WDR36c.1838T>G (p.Val613Gly)
c.2006T>G (p.Val669Gly)
5g.111119055T>ACA445744835WDR36c.1839T>A (p.Val613=)
c.2007T>A (p.Val669=)
5g.111119055T>CCA445744836WDR36c.1839T>C (p.Val613=)
c.2007T>C (p.Val669=)
5g.111119055T>GCA445744837WDR36c.1839T>G (p.Val613=)
c.2007T>G (p.Val669=)
5g.111119056T>ACA360613524WDR36c.1840T>A (p.Ser614Thr)
c.2008T>A (p.Ser670Thr)
5g.111119056T>CCA360613523WDR36c.1840T>C (p.Ser614Pro)
c.2008T>C (p.Ser670Pro)
dbSNP gnomAD v2 gnomAD v4
5g.111119056T>GCA360613522WDR36c.1840T>G (p.Ser614Ala)
c.2008T>G (p.Ser670Ala)
gnomAD v4
5g.111119056T=CA1572628336WDR36c.1840T= (p.Ser614=)
c.2008T= (p.Ser670=)
5g.111119057C>ACA360613525WDR36c.1841C>A (p.Ser614Tyr)
c.2009C>A (p.Ser670Tyr)
5g.111119057C=CA1572628337WDR36c.1841C= (p.Ser614=)
c.2009C= (p.Ser670=)
5g.111119057C>GCA360613526WDR36c.1841C>G (p.Ser614Cys)
c.2009C>G (p.Ser670Cys)
dbSNP gnomAD v3 gnomAD v4
5g.111119057C>TCA3365887WDR36c.1841C>T (p.Ser614Phe)
c.2009C>T (p.Ser670Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119058T>ACA445744838WDR36c.1842T>A (p.Ser614=)
c.2010T>A (p.Ser670=)
5g.111119058T>CCA445744839WDR36c.1842T>C (p.Ser614=)
c.2010T>C (p.Ser670=)
5g.111119058T>GCA445744840WDR36c.1842T>G (p.Ser614=)
c.2010T>G (p.Ser670=)
5g.111119059_111119060delCA2674832897WDR36c.1843_1844del (p.Met615ValfsTer?)
c.2011_2012del (p.Met671ValfsTer?)
ClinVar gnomAD v4
5g.111119059A=CA1572628338WDR36c.1843A= (p.Met615=)
c.2011A= (p.Met671=)
5g.111119059A>CCA360613527WDR36c.1843A>C (p.Met615Leu)
c.2011A>C (p.Met671Leu)
5g.111119059A>GCA3365888WDR36c.1843A>G (p.Met615Val)
c.2011A>G (p.Met671Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.111119059A>TCA360613528WDR36c.1843A>T (p.Met615Leu)
c.2011A>T (p.Met671Leu)
5g.111119060T>ACA360613529WDR36c.1844T>A (p.Met615Lys)
c.2012T>A (p.Met671Lys)
5g.111119060T>CCA360613530WDR36c.1844T>C (p.Met615Thr)
c.2012T>C (p.Met671Thr)
5g.111119060T>GCA360613531WDR36c.1844T>G (p.Met615Arg)
c.2012T>G (p.Met671Arg)
5g.111119061G>ACA360613532WDR36c.1845G>A (p.Met615Ile)
c.2013G>A (p.Met671Ile)
dbSNP gnomAD v3 gnomAD v4
5g.111119061G>CCA360613533WDR36c.1845G>C (p.Met615Ile)
c.2013G>C (p.Met671Ile)
5g.111119061G=CA1572628339WDR36c.1845G= (p.Met615=)
c.2013G= (p.Met671=)
5g.111119061G>TCA360613534WDR36c.1845G>T (p.Met615Ile)
c.2013G>T (p.Met671Ile)
5g.111119062T>ACA360613537WDR36c.1846T>A (p.Ser616Thr)
c.2014T>A (p.Ser672Thr)
dbSNP gnomAD v2 gnomAD v4
5g.111119062T>CCA360613536WDR36c.1846T>C (p.Ser616Pro)
c.2014T>C (p.Ser672Pro)
5g.111119062T>GCA360613535WDR36c.1846T>G (p.Ser616Ala)
c.2014T>G (p.Ser672Ala)
5g.111119062T=CA1572628340WDR36c.1846T= (p.Ser616=)
c.2014T= (p.Ser672=)
5g.111119063C>ACA360613538WDR36c.1847C>A (p.Ser616Tyr)
c.2015C>A (p.Ser672Tyr)
5g.111119063C>GCA360613539WDR36c.1847C>G (p.Ser616Cys)
c.2015C>G (p.Ser672Cys)
5g.111119063C>TCA360613540WDR36c.1847C>T (p.Ser616Phe)
c.2015C>T (p.Ser672Phe)
5g.111119064T>ACA445744841WDR36c.1848T>A (p.Ser616=)
c.2016T>A (p.Ser672=)
5g.111119064T>CCA445744842WDR36c.1848T>C (p.Ser616=)
c.2016T>C (p.Ser672=)
5g.111119064T>GCA445744843WDR36c.1848T>G (p.Ser616=)
c.2016T>G (p.Ser672=)
gnomAD v4
5g.111119065C>ACA360613541WDR36c.1849C>A (p.Pro617Thr)
c.2017C>A (p.Pro673Thr)
5g.111119065C>GCA360613542WDR36c.1849C>G (p.Pro617Ala)
c.2017C>G (p.Pro673Ala)
5g.111119065C>TCA360613543WDR36c.1849C>T (p.Pro617Ser)
c.2017C>T (p.Pro673Ser)
COSMIC
5g.111119065_111119079delinsCCTACTGGAGACTTTCA1572628341WDR36c.1849_1863delinsCCTACTGGAGACTTT (p.Pro617=)
c.2017_2031delinsCCTACTGGAGACTTT (p.Pro673=)
5g.111119066C>ACA360613544WDR36c.1850C>A (p.Pro617His)
c.2018C>A (p.Pro673His)
5g.111119066C>GCA360613545WDR36c.1850C>G (p.Pro617Arg)
c.2018C>G (p.Pro673Arg)
5g.111119066C>TCA360613546WDR36c.1850C>T (p.Pro617Leu)
c.2018C>T (p.Pro673Leu)
5g.111119068_111119081delCA3365889WDR36c.1852_1865del (p.Thr618GlyfsTer?)
c.2020_2033del (p.Thr674GlyfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.111119067T>ACA445744845WDR36c.1851T>A (p.Pro617=)
c.2019T>A (p.Pro673=)
5g.111119067T>CCA445744844WDR36c.1851T>C (p.Pro617=)
c.2019T>C (p.Pro673=)
5g.111119067T>GCA445744846WDR36c.1851T>G (p.Pro617=)
c.2019T>G (p.Pro673=)
5g.111119068A=CA1572628342WDR36c.1852A= (p.Thr618=)
c.2020A= (p.Thr674=)
5g.111119068A>CCA360613547WDR36c.1852A>C (p.Thr618Pro)
c.2020A>C (p.Thr674Pro)
5g.111119068A>GCA3365890WDR36c.1852A>G (p.Thr618Ala)
c.2020A>G (p.Thr674Ala)
dbSNP ExAC gnomAD v2
5g.111119068A>TCA360613548WDR36c.1852A>T (p.Thr618Ser)
c.2020A>T (p.Thr674Ser)
5g.111119069C>ACA360613551WDR36c.1853C>A (p.Thr618Asn)
c.2021C>A (p.Thr674Asn)
5g.111119069C>GCA360613549WDR36c.1853C>G (p.Thr618Ser)
c.2021C>G (p.Thr674Ser)
5g.111119069C>TCA360613550WDR36c.1853C>T (p.Thr618Ile)
c.2021C>T (p.Thr674Ile)
gnomAD v4
5g.111119070T>ACA445744849WDR36c.1854T>A (p.Thr618=)
c.2022T>A (p.Thr674=)
5g.111119070T>CCA445744848WDR36c.1854T>C (p.Thr618=)
c.2022T>C (p.Thr674=)
5g.111119070T>GCA445744847WDR36c.1854T>G (p.Thr618=)
c.2022T>G (p.Thr674=)
5g.111119071G>ACA360613552WDR36c.1855G>A (p.Gly619Arg)
c.2023G>A (p.Gly675Arg)
gnomAD v4
5g.111119071G>CCA360613553WDR36c.1855G>C (p.Gly619Arg)
c.2023G>C (p.Gly675Arg)
5g.111119071G>TCA360613554WDR36c.1855G>T (p.Gly619Ter)
c.2023G>T (p.Gly675Ter)
5g.111119072G>ACA360613555WDR36c.1856G>A (p.Gly619Glu)
c.2024G>A (p.Gly675Glu)
gnomAD v4
5g.111119072G>CCA360613556WDR36c.1856G>C (p.Gly619Ala)
c.2024G>C (p.Gly675Ala)
5g.111119072G>TCA360613557WDR36c.1856G>T (p.Gly619Val)
c.2024G>T (p.Gly675Val)
5g.111119073A>CCA445744850WDR36c.1857A>C (p.Gly619=)
c.2025A>C (p.Gly675=)
5g.111119073A>GCA445744852WDR36c.1857A>G (p.Gly619=)
c.2025A>G (p.Gly675=)
5g.111119073A>TCA445744851WDR36c.1857A>T (p.Gly619=)
c.2025A>T (p.Gly675=)
5g.111119074G>ACA360613558WDR36c.1858G>A (p.Asp620Asn)
c.2026G>A (p.Asp676Asn)
5g.111119074G>CCA360613559WDR36c.1858G>C (p.Asp620His)
c.2026G>C (p.Asp676His)
5g.111119074G=CA1572628343WDR36c.1858G= (p.Asp620=)
c.2026G= (p.Asp676=)
5g.111119074G>TCA360613560WDR36c.1858G>T (p.Asp620Tyr)
c.2026G>T (p.Asp676Tyr)
dbSNP

Number of alleles fetched