Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.65077539_65077549delinsCCCAGCCCGCACA2183440152KBTBD13c.724_734delinsCCCAGCCCGCA (p.Pro242=)
15g.65077546_65077555delCA919576526KBTBD13c.731_740del (p.Pro244ArgfsTer?)
dbSNP
15g.65077546_65077548dupCA2628987440KBTBD13c.731_733dup (p.Pro244_His245insPro)
gnomAD v4
15g.65077548C>ACA392862795KBTBD13c.733C>A (p.His245Asn)
gnomAD v4
15g.65077548C>GCA392862797KBTBD13c.733C>G (p.His245Asp)
15g.65077548C>TCA392862800KBTBD13c.733C>T (p.His245Tyr)
gnomAD v4
15g.65077549A=CA2183440178KBTBD13c.734A= (p.His245=)
15g.65077549A>CCA271503983KBTBD13c.734A>C (p.His245Pro)
dbSNP gnomAD v4
15g.65077549A>GCA392862806KBTBD13c.734A>G (p.His245Arg)
15g.65077549A>TCA392862810KBTBD13c.734A>T (p.His245Leu)
15g.65077550C>ACA392862814KBTBD13c.735C>A (p.His245Gln)
gnomAD v4
15g.65077550C>GCA392862817KBTBD13c.735C>G (p.His245Gln)
gnomAD v4
15g.65077550C>TCA490898999KBTBD13c.735C>T (p.His245=)
gnomAD v4
15g.65077552_65077555dupCA2628987441KBTBD13c.737_740dup (p.Arg248AlafsTer4)
gnomAD v4
15g.65077551C>ACA392862820KBTBD13c.736C>A (p.Gln246Lys)
dbSNP
15g.65077551C=CA2183440182KBTBD13c.736C= (p.Gln246=)
15g.65077551C>GCA392862821KBTBD13c.736C>G (p.Gln246Glu)
15g.65077551C>TCA392862823KBTBD13c.736C>T (p.Gln246Ter)
gnomAD v4
15g.65077552A>CCA392862827KBTBD13c.737A>C (p.Gln246Pro)
15g.65077552A>GCA392862828KBTBD13c.737A>G (p.Gln246Arg)
15g.65077552A>TCA392862829KBTBD13c.737A>T (p.Gln246Leu)
15g.65077553G>ACA490899005KBTBD13c.738G>A (p.Gln246=)
ClinVar gnomAD v4
15g.65077553G>CCA392862830KBTBD13c.738G>C (p.Gln246His)
15g.65077553G>TCA392862832KBTBD13c.738G>T (p.Gln246His)
gnomAD v4
15g.65077554C>ACA392862846KBTBD13c.739C>A (p.Pro247Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.65077554C=CA2183440184KBTBD13c.739C= (p.Pro247=)
15g.65077554C>GCA392862853KBTBD13c.739C>G (p.Pro247Ala)
15g.65077554C>TCA392862856KBTBD13c.739C>T (p.Pro247Ser)
gnomAD v4
15g.65077555C>ACA271503990KBTBD13c.740C>A (p.Pro247Gln)
dbSNP gnomAD v4
15g.65077555C=CA2183440188KBTBD13c.740C= (p.Pro247=)
15g.65077555C>GCA392862861KBTBD13c.740C>G (p.Pro247Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.65077555C>TCA7613966KBTBD13c.740C>T (p.Pro247Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077556G>ACA490899013KBTBD13c.741G>A (p.Pro247=)
gnomAD v4
15g.65077556G>CCA490899014KBTBD13c.741G>C (p.Pro247=)
dbSNP
15g.65077556G=CA2183440191KBTBD13c.741G= (p.Pro247=)
15g.65077556G>TCA490899015KBTBD13c.741G>T (p.Pro247=)
gnomAD v4
15g.65077557C>ACA259983KBTBD13c.742C>A (p.Arg248Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077557C=CA2183440199KBTBD13c.742C= (p.Arg248=)
15g.65077557C>GCA392862891KBTBD13c.742C>G (p.Arg248Gly)
15g.65077557C>TCA7613967KBTBD13c.742C>T (p.Arg248Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077558G>ACA392862895KBTBD13c.743G>A (p.Arg248His)
dbSNP gnomAD v3 gnomAD v4
15g.65077558G>CCA392862896KBTBD13c.743G>C (p.Arg248Pro)
15g.65077558G=CA2183440204KBTBD13c.743G= (p.Arg248=)
15g.65077558G>TCA392862900KBTBD13c.743G>T (p.Arg248Leu)
gnomAD v4
15g.65077559C>ACA490899021KBTBD13c.744C>A (p.Arg248=)
gnomAD v4
15g.65077559C=CA2183440207KBTBD13c.744C= (p.Arg248=)
15g.65077559C>GCA490899023KBTBD13c.744C>G (p.Arg248=)
15g.65077559C>TCA271503998KBTBD13c.744C>T (p.Arg248=)
dbSNP gnomAD v3 gnomAD v4
15g.65077560T>ACA392862917KBTBD13c.745T>A (p.Tyr249Asn)
15g.65077560T>CCA392862905KBTBD13c.745T>C (p.Tyr249His)
gnomAD v4
15g.65077560T>GCA392862914KBTBD13c.745T>G (p.Tyr249Asp)
15g.65077561A=CA2183440210KBTBD13c.746A= (p.Tyr249=)
15g.65077561A>CCA392862922KBTBD13c.746A>C (p.Tyr249Ser)
15g.65077561A>GCA392862923KBTBD13c.746A>G (p.Tyr249Cys)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.65077561A>TCA392862924KBTBD13c.746A>T (p.Tyr249Phe)
15g.65077562T>ACA392862925KBTBD13c.747T>A (p.Tyr249Ter)
15g.65077562T>CCA490899031KBTBD13c.747T>C (p.Tyr249=)
15g.65077562T>GCA392862927KBTBD13c.747T>G (p.Tyr249Ter)
15g.65077563G>ACA392862948KBTBD13c.748G>A (p.Asp250Asn)
gnomAD v2
15g.65077563G>CCA392862935KBTBD13c.748G>C (p.Asp250His)
15g.65077563G>TCA392862940KBTBD13c.748G>T (p.Asp250Tyr)
15g.65077563_65077565delinsGACCA2183440212KBTBD13c.748_750delinsGAC (p.Asp250=)
15g.65077564A=CA2183440215KBTBD13c.749A= (p.Asp250=)
15g.65077564A>CCA392862949KBTBD13c.749A>C (p.Asp250Ala)
15g.65077564A>GCA392862951KBTBD13c.749A>G (p.Asp250Gly)
15g.65077564A>TCA392862953KBTBD13c.749A>T (p.Asp250Val)
dbSNP gnomAD v4
15g.65077567_65077568delCA7613968KBTBD13c.752_753del (p.Thr251SerfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077565C>ACA392862959KBTBD13c.750C>A (p.Asp250Glu)
gnomAD v4
15g.65077565C>GCA392862962KBTBD13c.750C>G (p.Asp250Glu)
gnomAD v4
15g.65077565C>TCA490899037KBTBD13c.750C>T (p.Asp250=)
gnomAD v4
15g.65077566A=CA2183440218KBTBD13c.751A= (p.Thr251=)
15g.65077566A>CCA7613970KBTBD13c.751A>C (p.Thr251Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077566A>GCA7613969KBTBD13c.751A>G (p.Thr251Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077566A>TCA392862980KBTBD13c.751A>T (p.Thr251Ser)
15g.65077567C>ACA392862982KBTBD13c.752C>A (p.Thr251Lys)
15g.65077567C>GCA392862983KBTBD13c.752C>G (p.Thr251Arg)
gnomAD v4
15g.65077567C>TCA392862987KBTBD13c.752C>T (p.Thr251Ile)
15g.65077568_65077572delCA2628987444KBTBD13c.753_757del (p.Ala252GlyfsTer?)
gnomAD v4
15g.65077568A>CCA490899053KBTBD13c.753A>C (p.Thr251=)
15g.65077568A>GCA490899056KBTBD13c.753A>G (p.Thr251=)
15g.65077568A>TCA490899057KBTBD13c.753A>T (p.Thr251=)
15g.65077569G>ACA392862992KBTBD13c.754G>A (p.Ala252Thr)
gnomAD v4
15g.65077569G>CCA392862998KBTBD13c.754G>C (p.Ala252Pro)
15g.65077569G>TCA392862996KBTBD13c.754G>T (p.Ala252Ser)
gnomAD v4
15g.65077570C>ACA392863005KBTBD13c.755C>A (p.Ala252Glu)
gnomAD v4
15g.65077570C=CA2183440221KBTBD13c.755C= (p.Ala252=)
15g.65077570C>GCA392863012KBTBD13c.755C>G (p.Ala252Gly)
gnomAD v4
15g.65077570C>TCA392863009KBTBD13c.755C>T (p.Ala252Val)
dbSNP gnomAD v2 gnomAD v4
15g.65077571delCA2628987445KBTBD13c.756del (p.Leu253TrpfsTer?)
gnomAD v4
15g.65077571G>ACA490899065KBTBD13c.756G>A (p.Ala252=)
dbSNP gnomAD v2 gnomAD v4
15g.65077571G>CCA490899066KBTBD13c.756G>C (p.Ala252=)
dbSNP
15g.65077571G=CA2183440227KBTBD13c.756G= (p.Ala252=)
15g.65077571G>TCA490899067KBTBD13c.756G>T (p.Ala252=)
ClinVar dbSNP gnomAD v4
15g.65077571_65077572delinsAACA1139664033KBTBD13c.756_757delinsAA (p.Leu253Met)
ClinVar dbSNP
15g.65077571_65077572delinsGCCA2183440229KBTBD13c.756_757delinsGC (p.Ala252=)
15g.65077572C>ACA7613971KBTBD13c.757C>A (p.Leu253Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077572C=CA2183440236KBTBD13c.757C= (p.Leu253=)
15g.65077572C>GCA392863018KBTBD13c.757C>G (p.Leu253Val)
dbSNP gnomAD v4
15g.65077572C>TCA490899070KBTBD13c.757C>T (p.Leu253=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077573T>ACA392863022KBTBD13c.758T>A (p.Leu253Gln)
COSMIC
15g.65077573T>CCA392863027KBTBD13c.758T>C (p.Leu253Pro)
15g.65077573T>GCA392863029KBTBD13c.758T>G (p.Leu253Arg)
15g.65077574G>ACA490899074KBTBD13c.759G>A (p.Leu253=)
gnomAD v4
15g.65077574G>CCA490899072KBTBD13c.759G>C (p.Leu253=)
15g.65077574G>TCA490899071KBTBD13c.759G>T (p.Leu253=)
15g.65077574_65077597delCA2628987446KBTBD13c.759_782del (p.Ala254_Tyr261del)
gnomAD v4
15g.65077575G>ACA392863032KBTBD13c.760G>A (p.Ala254Thr)
gnomAD v4
15g.65077575G>CCA392863033KBTBD13c.760G>C (p.Ala254Pro)
gnomAD v4
15g.65077575G>TCA392863034KBTBD13c.760G>T (p.Ala254Ser)
gnomAD v4
15g.65077576C>ACA392863037KBTBD13c.761C>A (p.Ala254Asp)
gnomAD v4
15g.65077576C>GCA392863039KBTBD13c.761C>G (p.Ala254Gly)
15g.65077576C>TCA392863041KBTBD13c.761C>T (p.Ala254Val)
gnomAD v4
15g.65077577C>ACA490899077KBTBD13c.762C>A (p.Ala254=)
gnomAD v4
15g.65077577C=CA2183440241KBTBD13c.762C= (p.Ala254=)
15g.65077577C>GCA490899078KBTBD13c.762C>G (p.Ala254=)
15g.65077577C>TCA490899080KBTBD13c.762C>T (p.Ala254=)
dbSNP gnomAD v4
15g.65077578G>ACA392863052KBTBD13c.763G>A (p.Gly255Ser)
gnomAD v4
15g.65077578G>CCA392863048KBTBD13c.763G>C (p.Gly255Arg)
15g.65077578G>TCA392863047KBTBD13c.763G>T (p.Gly255Cys)
gnomAD v4
15g.65077579delCA2628987448KBTBD13c.764del (p.Gly255AlafsTer?)
gnomAD v4
15g.65077579G>ACA392863059KBTBD13c.764G>A (p.Gly255Asp)
gnomAD v4
15g.65077579G>CCA392863077KBTBD13c.764G>C (p.Gly255Ala)
15g.65077579G>TCA392863086KBTBD13c.764G>T (p.Gly255Val)
dbSNP gnomAD v4
15g.65077580C>ACA490899082KBTBD13c.765C>A (p.Gly255=)
gnomAD v4
15g.65077580C=CA2183440243KBTBD13c.765C= (p.Gly255=)
15g.65077580C>GCA490899083KBTBD13c.765C>G (p.Gly255=)
15g.65077580C>TCA490899085KBTBD13c.765C>T (p.Gly255=)
dbSNP gnomAD v4
15g.65077581T>ACA392863091KBTBD13c.766T>A (p.Phe256Ile)
15g.65077581T>CCA392863094KBTBD13c.766T>C (p.Phe256Leu)
gnomAD v4
15g.65077581T>GCA392863095KBTBD13c.766T>G (p.Phe256Val)
15g.65077582T>ACA392863096KBTBD13c.767T>A (p.Phe256Tyr)
15g.65077582T>CCA392863097KBTBD13c.767T>C (p.Phe256Ser)
dbSNP
15g.65077582T>GCA392863099KBTBD13c.767T>G (p.Phe256Cys)
15g.65077583C>ACA392863102KBTBD13c.768C>A (p.Phe256Leu)
ClinVar dbSNP gnomAD v4
15g.65077583C=CA2183440246KBTBD13c.768C= (p.Phe256=)
15g.65077583C>GCA392863105KBTBD13c.768C>G (p.Phe256Leu)
dbSNP gnomAD v2 gnomAD v4
15g.65077583C>TCA7613972KBTBD13c.768C>T (p.Phe256=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.65077584G>ACA392863113KBTBD13c.769G>A (p.Asp257Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.65077584G>CCA7613973KBTBD13c.769G>C (p.Asp257His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077584G=CA2183440254KBTBD13c.769G= (p.Asp257=)
15g.65077584G>TCA392863112KBTBD13c.769G>T (p.Asp257Tyr)
gnomAD v4
15g.65077585A>CCA392863118KBTBD13c.770A>C (p.Asp257Ala)
15g.65077585A>GCA392863120KBTBD13c.770A>G (p.Asp257Gly)
gnomAD v4
15g.65077585A>TCA392863124KBTBD13c.770A>T (p.Asp257Val)
15g.65077586C>ACA392863127KBTBD13c.771C>A (p.Asp257Glu)
gnomAD v4
15g.65077586C=CA2183440259KBTBD13c.771C= (p.Asp257=)
15g.65077586C>GCA392863131KBTBD13c.771C>G (p.Asp257Glu)
15g.65077586C>TCA490899098KBTBD13c.771C>T (p.Asp257=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077587G>ACA392863136KBTBD13c.772G>A (p.Gly258Ser)
dbSNP gnomAD v2 gnomAD v4
15g.65077587G>CCA392863140KBTBD13c.772G>C (p.Gly258Arg)
15g.65077587G=CA2183440263KBTBD13c.772G= (p.Gly258=)
15g.65077587G>TCA7613974KBTBD13c.772G>T (p.Gly258Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077588G>ACA392863148KBTBD13c.773G>A (p.Gly258Asp)
dbSNP gnomAD v2 gnomAD v4
15g.65077588G>CCA392863149KBTBD13c.773G>C (p.Gly258Ala)
dbSNP gnomAD v2 gnomAD v4
15g.65077588G=CA2183440266KBTBD13c.773G= (p.Gly258=)
15g.65077588G>TCA392863150KBTBD13c.773G>T (p.Gly258Val)
dbSNP gnomAD v4
15g.65077589C>ACA490899102KBTBD13c.774C>A (p.Gly258=)
gnomAD v4
15g.65077589C=CA2183440269KBTBD13c.774C= (p.Gly258=)
15g.65077589C>GCA490899104KBTBD13c.774C>G (p.Gly258=)
15g.65077589C>TCA7613975KBTBD13c.774C>T (p.Gly258=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077590C>ACA392863159KBTBD13c.775C>A (p.Arg259Ser)
gnomAD v4
15g.65077590C=CA2183440277KBTBD13c.775C= (p.Arg259=)
15g.65077590C>GCA7613977KBTBD13c.775C>G (p.Arg259Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077590C>TCA7613976KBTBD13c.775C>T (p.Arg259Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077591G>ACA392863163KBTBD13c.776G>A (p.Arg259His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.65077591G>CCA392863165KBTBD13c.776G>C (p.Arg259Pro)
15g.65077591G=CA2183440281KBTBD13c.776G= (p.Arg259=)
15g.65077591G>TCA392863168KBTBD13c.776G>T (p.Arg259Leu)
dbSNP gnomAD v2 gnomAD v4
15g.65077592C>ACA490899105KBTBD13c.777C>A (p.Arg259=)
gnomAD v4
15g.65077592C>GCA490899106KBTBD13c.777C>G (p.Arg259=)
15g.65077592C>TCA490899107KBTBD13c.777C>T (p.Arg259=)
gnomAD v4
15g.65077593C>ACA392863172KBTBD13c.778C>A (p.Leu260Ile)
gnomAD v4
15g.65077593C=CA2183440284KBTBD13c.778C= (p.Leu260=)
15g.65077593C>GCA392863176KBTBD13c.778C>G (p.Leu260Val)
15g.65077593C>TCA7613978KBTBD13c.778C>T (p.Leu260Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077594T>ACA392863190KBTBD13c.779T>A (p.Leu260His)
gnomAD v4
15g.65077594T>CCA392863192KBTBD13c.779T>C (p.Leu260Pro)
15g.65077594T>GCA392863194KBTBD13c.779T>G (p.Leu260Arg)
gnomAD v4
15g.65077595C>ACA490899111KBTBD13c.780C>A (p.Leu260=)
gnomAD v4
15g.65077595C=CA2183440288KBTBD13c.780C= (p.Leu260=)
15g.65077595C>GCA490899113KBTBD13c.780C>G (p.Leu260=)
dbSNP gnomAD v4
15g.65077595C>TCA490899112KBTBD13c.780C>T (p.Leu260=)
gnomAD v4
15g.65077596T>ACA392863201KBTBD13c.781T>A (p.Tyr261Asn)
15g.65077596T>CCA7613979KBTBD13c.781T>C (p.Tyr261His)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077596T>GCA392863207KBTBD13c.781T>G (p.Tyr261Asp)
15g.65077596T=CA2183440291KBTBD13c.781T= (p.Tyr261=)
15g.65077597A=CA2183440293KBTBD13c.782A= (p.Tyr261=)
15g.65077597A>CCA392863215KBTBD13c.782A>C (p.Tyr261Ser)
15g.65077597A>GCA271504040KBTBD13c.782A>G (p.Tyr261Cys)
ClinVar dbSNP
15g.65077597A>TCA392863218KBTBD13c.782A>T (p.Tyr261Phe)
15g.65077598C>ACA7613980KBTBD13c.783C>A (p.Tyr261Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077598C=CA2183440296KBTBD13c.783C= (p.Tyr261=)
15g.65077598C>GCA392863220KBTBD13c.783C>G (p.Tyr261Ter)
gnomAD v4
15g.65077598C>TCA490899121KBTBD13c.783C>T (p.Tyr261=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.65077599G>ACA392863225KBTBD13c.784G>A (p.Ala262Thr)
ClinVar dbSNP gnomAD v4
15g.65077599G>CCA392863229KBTBD13c.784G>C (p.Ala262Pro)
15g.65077599G=CA2183440300KBTBD13c.784G= (p.Ala262=)
15g.65077599G>TCA392863231KBTBD13c.784G>T (p.Ala262Ser)
gnomAD v4
15g.65077600C>ACA392863236KBTBD13c.785C>A (p.Ala262Asp)
gnomAD v4
15g.65077600C=CA2183440302KBTBD13c.785C= (p.Ala262=)
15g.65077600C>GCA392863239KBTBD13c.785C>G (p.Ala262Gly)
15g.65077600C>TCA392863244KBTBD13c.785C>T (p.Ala262Val)
dbSNP gnomAD v3 gnomAD v4
15g.65077601C>ACA490899123KBTBD13c.786C>A (p.Ala262=)
gnomAD v4
15g.65077601C>GCA490899125KBTBD13c.786C>G (p.Ala262=)
15g.65077601C>TCA490899127KBTBD13c.786C>T (p.Ala262=)
gnomAD v4
15g.65077602A>CCA392863260KBTBD13c.787A>C (p.Ile263Leu)
15g.65077602A>GCA392863258KBTBD13c.787A>G (p.Ile263Val)
gnomAD v4
15g.65077602A>TCA392863257KBTBD13c.787A>T (p.Ile263Phe)
15g.65077603T>ACA392863263KBTBD13c.788T>A (p.Ile263Asn)
15g.65077603T>CCA392863268KBTBD13c.788T>C (p.Ile263Thr)
15g.65077603T>GCA392863272KBTBD13c.788T>G (p.Ile263Ser)
15g.65077604C>ACA7613982KBTBD13c.789C>A (p.Ile263=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077604C=CA2183440306KBTBD13c.789C= (p.Ile263=)
15g.65077604C>GCA392863275KBTBD13c.789C>G (p.Ile263Met)
gnomAD v4
15g.65077604C>TCA7613981KBTBD13c.789C>T (p.Ile263=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077605G>ACA392863299KBTBD13c.790G>A (p.Gly264Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077605G>CCA7613983KBTBD13c.790G>C (p.Gly264Arg)
dbSNP ExAC gnomAD v4
15g.65077605G=CA2183440310KBTBD13c.790G= (p.Gly264=)
15g.65077605G>TCA392863289KBTBD13c.790G>T (p.Gly264Cys)
gnomAD v4
15g.65077606G>ACA392863305KBTBD13c.791G>A (p.Gly264Asp)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.65077606G>CCA392863308KBTBD13c.791G>C (p.Gly264Ala)
gnomAD v4
15g.65077606G=CA2183440314KBTBD13c.791G= (p.Gly264=)
15g.65077606G>TCA392863313KBTBD13c.791G>T (p.Gly264Val)
gnomAD v4
15g.65077607C>ACA490899138KBTBD13c.792C>A (p.Gly264=)
gnomAD v4
15g.65077607C=CA2183440316KBTBD13c.792C= (p.Gly264=)
15g.65077607C>GCA490899139KBTBD13c.792C>G (p.Gly264=)
gnomAD v4
15g.65077607C>TCA490899140KBTBD13c.792C>T (p.Gly264=)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.65077608G>ACA271504068KBTBD13c.793G>A (p.Gly265Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077608G>CCA392863321KBTBD13c.793G>C (p.Gly265Arg)
gnomAD v4
15g.65077608G=CA2183440322KBTBD13c.793G= (p.Gly265=)
15g.65077608G>TCA7613984KBTBD13c.793G>T (p.Gly265Cys)
dbSNP ExAC gnomAD v4
15g.65077609G>ACA153246KBTBD13c.794G>A (p.Gly265Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077609G>CCA392863337KBTBD13c.794G>C (p.Gly265Ala)
15g.65077609G=CA2183440330KBTBD13c.794G= (p.Gly265=)
15g.65077609G>TCA392863340KBTBD13c.794G>T (p.Gly265Val)
gnomAD v4
15g.65077610C>ACA490899142KBTBD13c.795C>A (p.Gly265=)
15g.65077610C=CA2183440333KBTBD13c.795C= (p.Gly265=)
15g.65077610C>GCA490899145KBTBD13c.795C>G (p.Gly265=)
15g.65077610C>TCA7613985KBTBD13c.795C>T (p.Gly265=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077611delCA2628987451KBTBD13c.796del (p.Glu266AsnfsTer?)
gnomAD v4
15g.65077611G>ACA392863352KBTBD13c.796G>A (p.Glu266Lys)
gnomAD v4
15g.65077611G>CCA392863355KBTBD13c.796G>C (p.Glu266Gln)
dbSNP gnomAD v2
15g.65077611G=CA2183440337KBTBD13c.796G= (p.Glu266=)
15g.65077611G>TCA392863359KBTBD13c.796G>T (p.Glu266Ter)
dbSNP gnomAD v2 gnomAD v4
15g.65077612A>CCA392863365KBTBD13c.797A>C (p.Glu266Ala)
15g.65077612A>GCA392863374KBTBD13c.797A>G (p.Glu266Gly)
15g.65077612A>TCA392863368KBTBD13c.797A>T (p.Glu266Val)
15g.65077612_65077613delinsTGCA2697549138KBTBD13c.797_798delinsTG (p.Glu266Val)
ClinVar
15g.65077613A=CA2183440343KBTBD13c.798A= (p.Glu266=)
15g.65077613A>CCA392863383KBTBD13c.798A>C (p.Glu266Asp)
dbSNP gnomAD v4
15g.65077613A>GCA153249KBTBD13c.798A>G (p.Glu266=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077613A>TCA392863392KBTBD13c.798A>T (p.Glu266Asp)
dbSNP gnomAD v4
15g.65077613_65077614insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAGCA970811072KBTBD13c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG (p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrAlaIleGlyGlyGlu)
gnomAD v3 gnomAD v4
15g.65077614T>ACA392863398KBTBD13c.799T>A (p.Phe267Ile)
15g.65077614T>CCA392863403KBTBD13c.799T>C (p.Phe267Leu)
15g.65077614T>GCA392863406KBTBD13c.799T>G (p.Phe267Val)
15g.65077615T>ACA392863416KBTBD13c.800T>A (p.Phe267Tyr)
15g.65077615T>CCA392863421KBTBD13c.800T>C (p.Phe267Ser)
gnomAD v4
15g.65077615T>GCA392863424KBTBD13c.800T>G (p.Phe267Cys)
15g.65077615T=CA2183440347KBTBD13c.800T= (p.Phe267=)
15g.65077616C>ACA392863451KBTBD13c.801C>A (p.Phe267Leu)
dbSNP gnomAD v2 gnomAD v4
15g.65077616C=CA2183440351KBTBD13c.801C= (p.Phe267=)
15g.65077616C>GCA392863453KBTBD13c.801C>G (p.Phe267Leu)
15g.65077616C>TCA490899160KBTBD13c.801C>T (p.Phe267=)
gnomAD v4
15g.65077617dupCA7613986KBTBD13c.802dup (p.Gln268ProfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.65077617C>ACA392863473KBTBD13c.802C>A (p.Gln268Lys)
gnomAD v4
15g.65077617C=CA2183440354KBTBD13c.802C= (p.Gln268=)
15g.65077617C>GCA392863469KBTBD13c.802C>G (p.Gln268Glu)
15g.65077617C>TCA271504136KBTBD13c.802C>T (p.Gln268Ter)
dbSNP gnomAD v4
15g.65077618A>CCA392863479KBTBD13c.803A>C (p.Gln268Pro)
gnomAD v4
15g.65077618A>GCA392863483KBTBD13c.803A>G (p.Gln268Arg)
gnomAD v4
15g.65077618A>TCA392863487KBTBD13c.803A>T (p.Gln268Leu)
15g.65077619G>ACA490899162KBTBD13c.804G>A (p.Gln268=)
gnomAD v4
15g.65077619G>CCA392863497KBTBD13c.804G>C (p.Gln268His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077619G=CA2183440358KBTBD13c.804G= (p.Gln268=)
15g.65077619G>TCA392863501KBTBD13c.804G>T (p.Gln268His)
gnomAD v4
15g.65077620A=CA2183440360KBTBD13c.805A= (p.Arg269=)
15g.65077620A>CCA490899165KBTBD13c.805A>C (p.Arg269=)
15g.65077620A>GCA392863509KBTBD13c.805A>G (p.Arg269Gly)
dbSNP gnomAD v3 gnomAD v4
15g.65077620A>TCA392863514KBTBD13c.805A>T (p.Arg269Trp)
gnomAD v4
15g.65077621G>ACA392863522KBTBD13c.806G>A (p.Arg269Lys)
gnomAD v4
15g.65077621G>CCA392863525KBTBD13c.806G>C (p.Arg269Thr)
gnomAD v4
15g.65077621G=CA2183440364KBTBD13c.806G= (p.Arg269=)
15g.65077621G>TCA392863528KBTBD13c.806G>T (p.Arg269Met)
dbSNP gnomAD v2 gnomAD v4
15g.65077622G>ACA490899168KBTBD13c.807G>A (p.Arg269=)
dbSNP gnomAD v4
15g.65077622G>CCA392863541KBTBD13c.807G>C (p.Arg269Ser)
15g.65077622G=CA2183440367KBTBD13c.807G= (p.Arg269=)
15g.65077622G>TCA392863549KBTBD13c.807G>T (p.Arg269Ser)
gnomAD v4
15g.65077623A>CCA392863553KBTBD13c.808A>C (p.Thr270Pro)
15g.65077623A>GCA392863571KBTBD13c.808A>G (p.Thr270Ala)
15g.65077623A>TCA392863564KBTBD13c.808A>T (p.Thr270Ser)
15g.65077624C>ACA392863575KBTBD13c.809C>A (p.Thr270Lys)
gnomAD v4
15g.65077624C=CA2183440369KBTBD13c.809C= (p.Thr270=)
15g.65077624C>GCA392863578KBTBD13c.809C>G (p.Thr270Arg)
dbSNP gnomAD v4
15g.65077624C>TCA7613987KBTBD13c.809C>T (p.Thr270Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077625G>ACA490899171KBTBD13c.810G>A (p.Thr270=)
gnomAD v4
15g.65077625G>CCA271504141KBTBD13c.810G>C (p.Thr270=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077625G=CA2183440372KBTBD13c.810G= (p.Thr270=)
15g.65077625G>TCA490899175KBTBD13c.810G>T (p.Thr270=)
gnomAD v4
15g.65077626C>ACA392863584KBTBD13c.811C>A (p.Pro271Thr)
gnomAD v4
15g.65077626C=CA2183440377KBTBD13c.811C= (p.Pro271=)
15g.65077626C>GCA392863587KBTBD13c.811C>G (p.Pro271Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.65077626C>TCA392863590KBTBD13c.811C>T (p.Pro271Ser)
dbSNP gnomAD v2 gnomAD v4
15g.65077628delCA2628987456KBTBD13c.813del (p.Ile272SerfsTer?)
gnomAD v4
15g.65077627C>ACA392863593KBTBD13c.812C>A (p.Pro271His)
gnomAD v4
15g.65077627C=CA2183440379KBTBD13c.812C= (p.Pro271=)
15g.65077627C>GCA392863596KBTBD13c.812C>G (p.Pro271Arg)
gnomAD v4
15g.65077627C>TCA271504161KBTBD13c.812C>T (p.Pro271Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077628C>ACA490899176KBTBD13c.813C>A (p.Pro271=)
gnomAD v4
15g.65077628C=CA2183440385KBTBD13c.813C= (p.Pro271=)
15g.65077628C>GCA490899178KBTBD13c.813C>G (p.Pro271=)
15g.65077628C>TCA271504169KBTBD13c.813C>T (p.Pro271=)
dbSNP gnomAD v4
15g.65077629A>CCA392863604KBTBD13c.814A>C (p.Ile272Leu)
gnomAD v4
15g.65077629A>GCA392863608KBTBD13c.814A>G (p.Ile272Val)
gnomAD v4
15g.65077629A>TCA392863610KBTBD13c.814A>T (p.Ile272Phe)
15g.65077630T>ACA7613988KBTBD13c.815T>A (p.Ile272Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077630T>CCA392863620KBTBD13c.815T>C (p.Ile272Thr)
gnomAD v4
15g.65077630T>GCA392863640KBTBD13c.815T>G (p.Ile272Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077630T=CA2183440386KBTBD13c.815T= (p.Ile272=)
15g.65077631C>ACA490899184KBTBD13c.816C>A (p.Ile272=)
dbSNP gnomAD v2 gnomAD v4
15g.65077631C=CA2183440388KBTBD13c.816C= (p.Ile272=)
15g.65077631C>GCA7613989KBTBD13c.816C>G (p.Ile272Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077631C>TCA490899188KBTBD13c.816C>T (p.Ile272=)
gnomAD v4
15g.65077632A=CA2183440391KBTBD13c.817A= (p.Ser273=)
15g.65077632A>CCA392863648KBTBD13c.817A>C (p.Ser273Arg)
dbSNP gnomAD v2 gnomAD v4
15g.65077632A>GCA392863653KBTBD13c.817A>G (p.Ser273Gly)
gnomAD v4
15g.65077632A>TCA392863657KBTBD13c.817A>T (p.Ser273Cys)
gnomAD v4
15g.65077633G>ACA392863660KBTBD13c.818G>A (p.Ser273Asn)
gnomAD v4
15g.65077633G>CCA392863665KBTBD13c.818G>C (p.Ser273Thr)
15g.65077633G=CA2183440393KBTBD13c.818G= (p.Ser273=)
15g.65077633G>TCA392863667KBTBD13c.818G>T (p.Ser273Ile)
dbSNP gnomAD v4
15g.65077634C>ACA392863670KBTBD13c.819C>A (p.Ser273Arg)
dbSNP gnomAD v2 gnomAD v4
15g.65077634C=CA2183440398KBTBD13c.819C= (p.Ser273=)
15g.65077634C>GCA392863672KBTBD13c.819C>G (p.Ser273Arg)
15g.65077634C>TCA490899190KBTBD13c.819C>T (p.Ser273=)
dbSNP gnomAD v2 gnomAD v4
15g.65077635T>ACA392863681KBTBD13c.820T>A (p.Ser274Thr)
15g.65077635T>CCA392863684KBTBD13c.820T>C (p.Ser274Pro)
15g.65077635T>GCA392863689KBTBD13c.820T>G (p.Ser274Ala)
15g.65077636C>ACA392863701KBTBD13c.821C>A (p.Ser274Tyr)
gnomAD v4
15g.65077636C>GCA392863704KBTBD13c.821C>G (p.Ser274Cys)
15g.65077636C>TCA392863697KBTBD13c.821C>T (p.Ser274Phe)
gnomAD v4
15g.65077637C>ACA490899194KBTBD13c.822C>A (p.Ser274=)
gnomAD v4
15g.65077637C=CA2183440401KBTBD13c.822C= (p.Ser274=)
15g.65077637C>GCA490899195KBTBD13c.822C>G (p.Ser274=)
15g.65077637C>TCA7613990KBTBD13c.822C>T (p.Ser274=)
dbSNP ExAC gnomAD v3 gnomAD v4
15g.65077638G>ACA392863712KBTBD13c.823G>A (p.Val275Met)
gnomAD v4
15g.65077638G>CCA392863718KBTBD13c.823G>C (p.Val275Leu)
ClinVar dbSNP gnomAD v4
15g.65077638G=CA2183440410KBTBD13c.823G= (p.Val275=)
15g.65077638G>TCA392863721KBTBD13c.823G>T (p.Val275Leu)
gnomAD v4
15g.65077639T>ACA392863726KBTBD13c.824T>A (p.Val275Glu)
15g.65077639T>CCA392863732KBTBD13c.824T>C (p.Val275Ala)
15g.65077639T>GCA392863736KBTBD13c.824T>G (p.Val275Gly)
15g.65077640G>ACA490899205KBTBD13c.825G>A (p.Val275=)
dbSNP gnomAD v2 gnomAD v4
15g.65077640G>CCA490899207KBTBD13c.825G>C (p.Val275=)
15g.65077640G=CA2183440412KBTBD13c.825G= (p.Val275=)
15g.65077640G>TCA490899210KBTBD13c.825G>T (p.Val275=)
gnomAD v4
15g.65077641delCA2628987457KBTBD13c.826del (p.Glu276SerfsTer?)
gnomAD v4
15g.65077641G>ACA392863746KBTBD13c.826G>A (p.Glu276Lys)
15g.65077641G>CCA392863750KBTBD13c.826G>C (p.Glu276Gln)
15g.65077641G=CA2183440416KBTBD13c.826G= (p.Glu276=)
15g.65077641G>TCA392863753KBTBD13c.826G>T (p.Glu276Ter)
dbSNP gnomAD v2 gnomAD v4
15g.65077642A=CA2183440420KBTBD13c.827A= (p.Glu276=)
15g.65077642A>CCA392863773KBTBD13c.827A>C (p.Glu276Ala)
15g.65077642A>GCA392863774KBTBD13c.827A>G (p.Glu276Gly)
dbSNP gnomAD v2 gnomAD v4
15g.65077642A>TCA392863775KBTBD13c.827A>T (p.Glu276Val)
15g.65077643G>ACA490899284KBTBD13c.828G>A (p.Glu276=)
gnomAD v4
15g.65077643G>CCA392863792KBTBD13c.828G>C (p.Glu276Asp)
15g.65077643G>TCA392863778KBTBD13c.828G>T (p.Glu276Asp)
gnomAD v4
15g.65077644C>ACA7613991KBTBD13c.829C>A (p.Arg277Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077644C=CA2183440423KBTBD13c.829C= (p.Arg277=)
15g.65077644C>GCA392863801KBTBD13c.829C>G (p.Arg277Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.65077644C>TCA392863816KBTBD13c.829C>T (p.Arg277Cys)
gnomAD v4
15g.65077645G>ACA392863819KBTBD13c.830G>A (p.Arg277His)
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.65077645G>CCA392863820KBTBD13c.830G>C (p.Arg277Pro)
15g.65077645G=CA2183440425KBTBD13c.830G= (p.Arg277=)
15g.65077645G>TCA392863821KBTBD13c.830G>T (p.Arg277Leu)
dbSNP gnomAD v4
15g.65077646C>ACA490899285KBTBD13c.831C>A (p.Arg277=)
gnomAD v4
15g.65077646C=CA2183440428KBTBD13c.831C= (p.Arg277=)
15g.65077646C>GCA7613992KBTBD13c.831C>G (p.Arg277=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.65077646C>TCA490899286KBTBD13c.831C>T (p.Arg277=)
15g.65077647T>ACA392863828KBTBD13c.832T>A (p.Tyr278Asn)
dbSNP gnomAD v2 gnomAD v4
15g.65077647T>CCA392863830KBTBD13c.832T>C (p.Tyr278His)
gnomAD v4
15g.65077647T>GCA392863834KBTBD13c.832T>G (p.Tyr278Asp)
15g.65077647T=CA2183440433KBTBD13c.832T= (p.Tyr278=)
15g.65077648A=CA2183440435KBTBD13c.833A= (p.Tyr278=)
15g.65077648A>CCA392863840KBTBD13c.833A>C (p.Tyr278Ser)
15g.65077648A>GCA392863848KBTBD13c.833A>G (p.Tyr278Cys)
gnomAD v4
15g.65077648A>TCA7613993KBTBD13c.833A>T (p.Tyr278Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched