Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.154569605_154569610delinsCAAAGTCA1504935326FGBc.1050_1055delinsCAAAGT (p.Asp350=)
n.939+298_939+303delinsCAAAGT
c.393_398delinsCAAAGT (p.Asp131=)
c.873_878delinsCAAAGT (p.Asp291=)
c.918_923delinsCAAAGT (p.Asp306=)
c.750_755delinsCAAAGT (p.Asp250=)
c.1041_1046delinsCAAAGT (p.Asp347=)
4g.154569610_154569614delCA3114708FGBc.1055_1059del (p.Val352GlyfsTer11)
n.939+303_939+307del
c.398_402del (p.Val133GlyfsTer11)
c.878_882del (p.Val293GlyfsTer11)
c.923_927del (p.Val308GlyfsTer11)
c.755_759del (p.Val252GlyfsTer11)
c.1046_1050del (p.Val349GlyfsTer11)
c.1055_1059del (p.Val352GlyfsTer18)
 dbSNP ExAC gnomAD v2
4g.154569607A>CCA358514926FGBc.1052A>C (p.Lys351Thr)
n.939+300A>C
c.395A>C (p.Lys132Thr)
c.875A>C (p.Lys292Thr)
c.920A>C (p.Lys307Thr)
c.752A>C (p.Lys251Thr)
c.1043A>C (p.Lys348Thr)
4g.154569607A>GCA358514928FGBc.1052A>G (p.Lys351Arg)
n.939+300A>G
c.395A>G (p.Lys132Arg)
c.875A>G (p.Lys292Arg)
c.920A>G (p.Lys307Arg)
c.752A>G (p.Lys251Arg)
c.1043A>G (p.Lys348Arg)
4g.154569607A>TCA358514930FGBc.1052A>T (p.Lys351Ile)
n.939+300A>T
c.395A>T (p.Lys132Ile)
c.875A>T (p.Lys292Ile)
c.920A>T (p.Lys307Ile)
c.752A>T (p.Lys251Ile)
c.1043A>T (p.Lys348Ile)
4g.154569608A=CA1504935329FGBc.1053A= (p.Lys351=)
n.939+301A=
c.396A= (p.Lys132=)
c.876A= (p.Lys292=)
c.921A= (p.Lys307=)
c.753A= (p.Lys251=)
c.1044A= (p.Lys348=)
4g.154569608A>CCA358514931FGBc.1053A>C (p.Lys351Asn)
n.939+301A>C
c.396A>C (p.Lys132Asn)
c.876A>C (p.Lys292Asn)
c.921A>C (p.Lys307Asn)
c.753A>C (p.Lys251Asn)
c.1044A>C (p.Lys348Asn)
 gnomAD v4
4g.154569608A>GCA442013285FGBc.1053A>G (p.Lys351=)
n.939+301A>G
c.396A>G (p.Lys132=)
c.876A>G (p.Lys292=)
c.921A>G (p.Lys307=)
c.753A>G (p.Lys251=)
c.1044A>G (p.Lys348=)
 dbSNP
4g.154569608A>TCA358514932FGBc.1053A>T (p.Lys351Asn)
n.939+301A>T
c.396A>T (p.Lys132Asn)
c.876A>T (p.Lys292Asn)
c.921A>T (p.Lys307Asn)
c.753A>T (p.Lys251Asn)
c.1044A>T (p.Lys348Asn)
4g.154569609G>ACA358514935FGBc.1054G>A (p.Val352Ile)
n.939+302G>A
c.397G>A (p.Val133Ile)
c.877G>A (p.Val293Ile)
c.922G>A (p.Val308Ile)
c.754G>A (p.Val252Ile)
c.1045G>A (p.Val349Ile)
4g.154569609G>CCA358514937FGBc.1054G>C (p.Val352Leu)
n.939+302G>C
c.397G>C (p.Val133Leu)
c.877G>C (p.Val293Leu)
c.922G>C (p.Val308Leu)
c.754G>C (p.Val252Leu)
c.1045G>C (p.Val349Leu)
4g.154569609G>TCA358514938FGBc.1054G>T (p.Val352Leu)
n.939+302G>T
c.397G>T (p.Val133Leu)
c.877G>T (p.Val293Leu)
c.922G>T (p.Val308Leu)
c.754G>T (p.Val252Leu)
c.1045G>T (p.Val349Leu)
4g.154569610T>ACA358514940FGBc.1055T>A (p.Val352Glu)
n.939+303T>A
c.398T>A (p.Val133Glu)
c.878T>A (p.Val293Glu)
c.923T>A (p.Val308Glu)
c.755T>A (p.Val252Glu)
c.1046T>A (p.Val349Glu)
4g.154569610T>CCA358514942FGBc.1055T>C (p.Val352Ala)
n.939+303T>C
c.398T>C (p.Val133Ala)
c.878T>C (p.Val293Ala)
c.923T>C (p.Val308Ala)
c.755T>C (p.Val252Ala)
c.1046T>C (p.Val349Ala)
4g.154569610T>GCA358514943FGBc.1055T>G (p.Val352Gly)
n.939+303T>G
c.398T>G (p.Val133Gly)
c.878T>G (p.Val293Gly)
c.923T>G (p.Val308Gly)
c.755T>G (p.Val252Gly)
c.1046T>G (p.Val349Gly)
4g.154569611A=CA1504935331FGBc.1056A= (p.Val352=)
n.939+304A=
c.399A= (p.Val133=)
c.879A= (p.Val293=)
c.924A= (p.Val308=)
c.756A= (p.Val252=)
c.1047A= (p.Val349=)
4g.154569611A>CCA442013293FGBc.1056A>C (p.Val352=)
n.939+304A>C
c.399A>C (p.Val133=)
c.879A>C (p.Val293=)
c.924A>C (p.Val308=)
c.756A>C (p.Val252=)
c.1047A>C (p.Val349=)
4g.154569611A>GCA442013294FGBc.1056A>G (p.Val352=)
n.939+304A>G
c.399A>G (p.Val133=)
c.879A>G (p.Val293=)
c.924A>G (p.Val308=)
c.756A>G (p.Val252=)
c.1047A>G (p.Val349=)
 dbSNP
4g.154569611A>TCA442013295FGBc.1056A>T (p.Val352=)
n.939+304A>T
c.399A>T (p.Val133=)
c.879A>T (p.Val293=)
c.924A>T (p.Val308=)
c.756A>T (p.Val252=)
c.1047A>T (p.Val349=)
4g.154569612A>CCA358514947FGBc.1057A>C (p.Lys353Gln)
n.939+305A>C
c.400A>C (p.Lys134Gln)
c.880A>C (p.Lys294Gln)
c.925A>C (p.Lys309Gln)
c.757A>C (p.Lys253Gln)
c.1048A>C (p.Lys350Gln)
4g.154569612A>GCA358514948FGBc.1057A>G (p.Lys353Glu)
n.939+305A>G
c.400A>G (p.Lys134Glu)
c.880A>G (p.Lys294Glu)
c.925A>G (p.Lys309Glu)
c.757A>G (p.Lys253Glu)
c.1048A>G (p.Lys350Glu)
4g.154569612A>TCA358514945FGBc.1057A>T (p.Lys353Ter)
n.939+305A>T
c.400A>T (p.Lys134Ter)
c.880A>T (p.Lys294Ter)
c.925A>T (p.Lys309Ter)
c.757A>T (p.Lys253Ter)
c.1048A>T (p.Lys350Ter)
4g.154569613A=CA1504935334FGBc.1058A= (p.Lys353=)
n.939+306A=
c.401A= (p.Lys134=)
c.881A= (p.Lys294=)
c.926A= (p.Lys309=)
c.758A= (p.Lys253=)
c.1049A= (p.Lys350=)
4g.154569613A>CCA358514949FGBc.1058A>C (p.Lys353Thr)
n.939+306A>C
c.401A>C (p.Lys134Thr)
c.881A>C (p.Lys294Thr)
c.926A>C (p.Lys309Thr)
c.758A>C (p.Lys253Thr)
c.1049A>C (p.Lys350Thr)
 gnomAD v4
4g.154569613A>GCA3114710FGBc.1058A>G (p.Lys353Arg)
n.939+306A>G
c.401A>G (p.Lys134Arg)
c.881A>G (p.Lys294Arg)
c.926A>G (p.Lys309Arg)
c.758A>G (p.Lys253Arg)
c.1049A>G (p.Lys350Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569613A>TCA358514951FGBc.1058A>T (p.Lys353Met)
n.939+306A>T
c.401A>T (p.Lys134Met)
c.881A>T (p.Lys294Met)
c.926A>T (p.Lys309Met)
c.758A>T (p.Lys253Met)
c.1049A>T (p.Lys350Met)
4g.154569614G>ACA442013297FGBc.1059G>A (p.Lys353=)
n.939+307G>A
c.402G>A (p.Lys134=)
c.882G>A (p.Lys294=)
c.927G>A (p.Lys309=)
c.759G>A (p.Lys253=)
c.1050G>A (p.Lys350=)
 gnomAD v4
4g.154569614G>CCA3114711FGBc.1059G>C (p.Lys353Asn)
n.939+307G>C
c.402G>C (p.Lys134Asn)
c.882G>C (p.Lys294Asn)
c.927G>C (p.Lys309Asn)
c.759G>C (p.Lys253Asn)
c.1050G>C (p.Lys350Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569614G=CA1504935336FGBc.1059G= (p.Lys353=)
n.939+307G=
c.402G= (p.Lys134=)
c.882G= (p.Lys294=)
c.927G= (p.Lys309=)
c.759G= (p.Lys253=)
c.1050G= (p.Lys350=)
4g.154569614G>TCA358514953FGBc.1059G>T (p.Lys353Asn)
n.939+307G>T
c.402G>T (p.Lys134Asn)
c.882G>T (p.Lys294Asn)
c.927G>T (p.Lys309Asn)
c.759G>T (p.Lys253Asn)
c.1050G>T (p.Lys350Asn)
4g.154569615G>ACA358514957FGBc.1060G>A (p.Ala354Thr)
n.939+308G>A
c.403G>A (p.Ala135Thr)
c.883G>A (p.Ala295Thr)
c.928G>A (p.Ala310Thr)
c.760G>A (p.Ala254Thr)
c.1051G>A (p.Ala351Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.154569615G>CCA358514954FGBc.1060G>C (p.Ala354Pro)
n.939+308G>C
c.403G>C (p.Ala135Pro)
c.883G>C (p.Ala295Pro)
c.928G>C (p.Ala310Pro)
c.760G>C (p.Ala254Pro)
c.1051G>C (p.Ala351Pro)
 gnomAD v4
4g.154569615G>TCA358514955FGBc.1060G>T (p.Ala354Ser)
n.939+308G>T
c.403G>T (p.Ala135Ser)
c.883G>T (p.Ala295Ser)
c.928G>T (p.Ala310Ser)
c.760G>T (p.Ala254Ser)
c.1051G>T (p.Ala351Ser)
4g.154569616C>ACA358514959FGBc.1061C>A (p.Ala354Asp)
n.939+309C>A
c.404C>A (p.Ala135Asp)
c.884C>A (p.Ala295Asp)
c.929C>A (p.Ala310Asp)
c.761C>A (p.Ala254Asp)
c.1052C>A (p.Ala351Asp)
4g.154569616C>GCA358514960FGBc.1061C>G (p.Ala354Gly)
n.939+309C>G
c.404C>G (p.Ala135Gly)
c.884C>G (p.Ala295Gly)
c.929C>G (p.Ala310Gly)
c.761C>G (p.Ala254Gly)
c.1052C>G (p.Ala351Gly)
4g.154569616C>TCA358514962FGBc.1061C>T (p.Ala354Val)
n.939+309C>T
c.404C>T (p.Ala135Val)
c.884C>T (p.Ala295Val)
c.929C>T (p.Ala310Val)
c.761C>T (p.Ala254Val)
c.1052C>T (p.Ala351Val)
 gnomAD v4
4g.154569617T>ACA442013307FGBc.1062T>A (p.Ala354=)
n.939+310T>A
c.405T>A (p.Ala135=)
c.885T>A (p.Ala295=)
c.930T>A (p.Ala310=)
c.762T>A (p.Ala254=)
c.1053T>A (p.Ala351=)
 dbSNP
4g.154569617T>CCA442013309FGBc.1062T>C (p.Ala354=)
n.939+310T>C
c.405T>C (p.Ala135=)
c.885T>C (p.Ala295=)
c.930T>C (p.Ala310=)
c.762T>C (p.Ala254=)
c.1053T>C (p.Ala351=)
4g.154569617T>GCA442013306FGBc.1062T>G (p.Ala354=)
n.939+310T>G
c.405T>G (p.Ala135=)
c.885T>G (p.Ala295=)
c.930T>G (p.Ala310=)
c.762T>G (p.Ala254=)
c.1053T>G (p.Ala351=)
4g.154569617T=CA1504935338FGBc.1062T= (p.Ala354=)
n.939+310T=
c.405T= (p.Ala135=)
c.885T= (p.Ala295=)
c.930T= (p.Ala310=)
c.762T= (p.Ala254=)
c.1053T= (p.Ala351=)
4g.154569618C>ACA358514964FGBc.1063C>A (p.His355Asn)
n.939+311C>A
c.406C>A (p.His136Asn)
c.886C>A (p.His296Asn)
c.931C>A (p.His311Asn)
c.763C>A (p.His255Asn)
c.1054C>A (p.His352Asn)
4g.154569618C>GCA358514966FGBc.1063C>G (p.His355Asp)
n.939+311C>G
c.406C>G (p.His136Asp)
c.886C>G (p.His296Asp)
c.931C>G (p.His311Asp)
c.763C>G (p.His255Asp)
c.1054C>G (p.His352Asp)
4g.154569618C>TCA358514967FGBc.1063C>T (p.His355Tyr)
n.939+311C>T
c.406C>T (p.His136Tyr)
c.886C>T (p.His296Tyr)
c.931C>T (p.His311Tyr)
c.763C>T (p.His255Tyr)
c.1054C>T (p.His352Tyr)
4g.154569619A>CCA358514973FGBc.1064A>C (p.His355Pro)
n.939+312A>C
c.407A>C (p.His136Pro)
c.887A>C (p.His296Pro)
c.932A>C (p.His311Pro)
c.764A>C (p.His255Pro)
c.1055A>C (p.His352Pro)
 gnomAD v4
4g.154569619A>GCA358514971FGBc.1064A>G (p.His355Arg)
n.939+312A>G
c.407A>G (p.His136Arg)
c.887A>G (p.His296Arg)
c.932A>G (p.His311Arg)
c.764A>G (p.His255Arg)
c.1055A>G (p.His352Arg)
4g.154569619A>TCA358514969FGBc.1064A>T (p.His355Leu)
n.939+312A>T
c.407A>T (p.His136Leu)
c.887A>T (p.His296Leu)
c.932A>T (p.His311Leu)
c.764A>T (p.His255Leu)
c.1055A>T (p.His352Leu)
4g.154569620C>ACA358514976FGBc.1065C>A (p.His355Gln)
n.939+313C>A
c.408C>A (p.His136Gln)
c.888C>A (p.His296Gln)
c.933C>A (p.His311Gln)
c.765C>A (p.His255Gln)
c.1056C>A (p.His352Gln)
4g.154569620C=CA1504935340FGBc.1065C= (p.His355=)
n.939+313C=
c.408C= (p.His136=)
c.888C= (p.His296=)
c.933C= (p.His311=)
c.765C= (p.His255=)
c.1056C= (p.His352=)
4g.154569620C>GCA358514975FGBc.1065C>G (p.His355Gln)
n.939+313C>G
c.408C>G (p.His136Gln)
c.888C>G (p.His296Gln)
c.933C>G (p.His311Gln)
c.765C>G (p.His255Gln)
c.1056C>G (p.His352Gln)
 gnomAD v4
4g.154569620C>TCA442013314FGBc.1065C>T (p.His355=)
n.939+313C>T
c.408C>T (p.His136=)
c.888C>T (p.His296=)
c.933C>T (p.His311=)
c.765C>T (p.His255=)
c.1056C>T (p.His352=)
 dbSNP gnomAD v4
4g.154569620_154569621insCAAAAACA3114713FGBc.1065_1066insCAAAAA (p.His355_Tyr356insGlnLys)
n.939+313_939+314insCAAAAA
c.408_409insCAAAAA (p.His136_Tyr137insGlnLys)
c.888_889insCAAAAA (p.His296_Tyr297insGlnLys)
c.933_934insCAAAAA (p.His311_Tyr312insGlnLys)
c.765_766insCAAAAA (p.His255_Tyr256insGlnLys)
c.1056_1057insCAAAAA (p.His352_Tyr353insGlnLys)
 dbSNP ExAC gnomAD v2
4g.154569620_154569621insCAAAAATAAAATTTCA3114712FGBc.1065_1066insCAAAAATAAAATTT (p.Tyr356GlnfsTer3)
n.939+313_939+314insCAAAAATAAAATTT
c.408_409insCAAAAATAAAATTT (p.Tyr137GlnfsTer3)
c.888_889insCAAAAATAAAATTT (p.Tyr297GlnfsTer3)
c.933_934insCAAAAATAAAATTT (p.Tyr312GlnfsTer3)
c.765_766insCAAAAATAAAATTT (p.Tyr256GlnfsTer3)
c.1056_1057insCAAAAATAAAATTT (p.Tyr353GlnfsTer3)
 dbSNP ExAC
4g.154569621T>ACA358514978FGBc.1066T>A (p.Tyr356Asn)
n.939+314T>A
c.409T>A (p.Tyr137Asn)
c.889T>A (p.Tyr297Asn)
c.934T>A (p.Tyr312Asn)
c.766T>A (p.Tyr256Asn)
c.1057T>A (p.Tyr353Asn)
4g.154569621T>CCA358514980FGBc.1066T>C (p.Tyr356His)
n.939+314T>C
c.409T>C (p.Tyr137His)
c.889T>C (p.Tyr297His)
c.934T>C (p.Tyr312His)
c.766T>C (p.Tyr256His)
c.1057T>C (p.Tyr353His)
4g.154569621T>GCA358514982FGBc.1066T>G (p.Tyr356Asp)
n.939+314T>G
c.409T>G (p.Tyr137Asp)
c.889T>G (p.Tyr297Asp)
c.934T>G (p.Tyr312Asp)
c.766T>G (p.Tyr256Asp)
c.1057T>G (p.Tyr353Asp)
4g.154569622A=CA1504935344FGBc.1067A= (p.Tyr356=)
n.939+315A=
c.410A= (p.Tyr137=)
c.890A= (p.Tyr297=)
c.935A= (p.Tyr312=)
c.767A= (p.Tyr256=)
c.1058A= (p.Tyr353=)
4g.154569622A>CCA358514985FGBc.1067A>C (p.Tyr356Ser)
n.939+315A>C
c.410A>C (p.Tyr137Ser)
c.890A>C (p.Tyr297Ser)
c.935A>C (p.Tyr312Ser)
c.767A>C (p.Tyr256Ser)
c.1058A>C (p.Tyr353Ser)
4g.154569622A>GCA358514987FGBc.1067A>G (p.Tyr356Cys)
n.939+315A>G
c.410A>G (p.Tyr137Cys)
c.890A>G (p.Tyr297Cys)
c.935A>G (p.Tyr312Cys)
c.767A>G (p.Tyr256Cys)
c.1058A>G (p.Tyr353Cys)
 gnomAD v4
4g.154569622A>TCA358514989FGBc.1067A>T (p.Tyr356Phe)
n.939+315A>T
c.410A>T (p.Tyr137Phe)
c.890A>T (p.Tyr297Phe)
c.935A>T (p.Tyr312Phe)
c.767A>T (p.Tyr256Phe)
c.1058A>T (p.Tyr353Phe)
4g.154569622_154569623insAAATTTCA3114714FGBc.1067_1068insAAATTT (p.Tyr356Ter)
n.939+315_939+316insAAATTT
c.410_411insAAATTT (p.Tyr137Ter)
c.890_891insAAATTT (p.Tyr297Ter)
c.935_936insAAATTT (p.Tyr312Ter)
c.767_768insAAATTT (p.Tyr256Ter)
c.1058_1059insAAATTT (p.Tyr353Ter)
 dbSNP ExAC gnomAD v2
4g.154569623T>ACA358514990FGBc.1068T>A (p.Tyr356Ter)
n.939+316T>A
c.411T>A (p.Tyr137Ter)
c.891T>A (p.Tyr297Ter)
c.936T>A (p.Tyr312Ter)
c.768T>A (p.Tyr256Ter)
c.1059T>A (p.Tyr353Ter)
4g.154569623T>CCA442013320FGBc.1068T>C (p.Tyr356=)
n.939+316T>C
c.411T>C (p.Tyr137=)
c.891T>C (p.Tyr297=)
c.936T>C (p.Tyr312=)
c.768T>C (p.Tyr256=)
c.1059T>C (p.Tyr353=)
 dbSNP gnomAD v2 gnomAD v4
4g.154569623T>GCA358514992FGBc.1068T>G (p.Tyr356Ter)
n.939+316T>G
c.411T>G (p.Tyr137Ter)
c.891T>G (p.Tyr297Ter)
c.936T>G (p.Tyr312Ter)
c.768T>G (p.Tyr256Ter)
c.1059T>G (p.Tyr353Ter)
4g.154569623T=CA1504935348FGBc.1068T= (p.Tyr356=)
n.939+316T=
c.411T= (p.Tyr137=)
c.891T= (p.Tyr297=)
c.936T= (p.Tyr312=)
c.768T= (p.Tyr256=)
c.1059T= (p.Tyr353=)
4g.154569624G>ACA3114715FGBc.1069G>A (p.Gly357Arg)
n.939+317G>A
c.412G>A (p.Gly138Arg)
c.892G>A (p.Gly298Arg)
c.937G>A (p.Gly313Arg)
c.769G>A (p.Gly257Arg)
c.1060G>A (p.Gly354Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569624G>CCA358514994FGBc.1069G>C (p.Gly357Arg)
n.939+317G>C
c.412G>C (p.Gly138Arg)
c.892G>C (p.Gly298Arg)
c.937G>C (p.Gly313Arg)
c.769G>C (p.Gly257Arg)
c.1060G>C (p.Gly354Arg)
4g.154569624G=CA1504935352FGBc.1069G= (p.Gly357=)
n.939+317G=
c.412G= (p.Gly138=)
c.892G= (p.Gly298=)
c.937G= (p.Gly313=)
c.769G= (p.Gly257=)
c.1060G= (p.Gly354=)
4g.154569624G>TCA358514996FGBc.1069G>T (p.Gly357Ter)
n.939+317G>T
c.412G>T (p.Gly138Ter)
c.892G>T (p.Gly298Ter)
c.937G>T (p.Gly313Ter)
c.769G>T (p.Gly257Ter)
c.1060G>T (p.Gly354Ter)
4g.154569625G>ACA358515000FGBc.1070G>A (p.Gly357Glu)
n.939+318G>A
c.413G>A (p.Gly138Glu)
c.893G>A (p.Gly298Glu)
c.938G>A (p.Gly313Glu)
c.770G>A (p.Gly257Glu)
c.1061G>A (p.Gly354Glu)
4g.154569625G>CCA358514998FGBc.1070G>C (p.Gly357Ala)
n.939+318G>C
c.413G>C (p.Gly138Ala)
c.893G>C (p.Gly298Ala)
c.938G>C (p.Gly313Ala)
c.770G>C (p.Gly257Ala)
c.1061G>C (p.Gly354Ala)
4g.154569625G>TCA358514999FGBc.1070G>T (p.Gly357Val)
n.939+318G>T
c.413G>T (p.Gly138Val)
c.893G>T (p.Gly298Val)
c.938G>T (p.Gly313Val)
c.770G>T (p.Gly257Val)
c.1061G>T (p.Gly354Val)
4g.154569626A>CCA442013328FGBc.1071A>C (p.Gly357=)
n.939+319A>C
c.414A>C (p.Gly138=)
c.894A>C (p.Gly298=)
c.939A>C (p.Gly313=)
c.771A>C (p.Gly257=)
c.1062A>C (p.Gly354=)
4g.154569626A>GCA442013329FGBc.1071A>G (p.Gly357=)
n.939+319A>G
c.414A>G (p.Gly138=)
c.894A>G (p.Gly298=)
c.939A>G (p.Gly313=)
c.771A>G (p.Gly257=)
c.1062A>G (p.Gly354=)
4g.154569626A>TCA442013327FGBc.1071A>T (p.Gly357=)
n.939+319A>T
c.414A>T (p.Gly138=)
c.894A>T (p.Gly298=)
c.939A>T (p.Gly313=)
c.771A>T (p.Gly257=)
c.1062A>T (p.Gly354=)
4g.154569627G>ACA3114716FGBc.1072G>A (p.Gly358Arg)
n.939+320G>A
c.415G>A (p.Gly139Arg)
c.895G>A (p.Gly299Arg)
c.940G>A (p.Gly314Arg)
c.772G>A (p.Gly258Arg)
c.1063G>A (p.Gly355Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569627G>CCA358515002FGBc.1072G>C (p.Gly358Arg)
n.939+320G>C
c.415G>C (p.Gly139Arg)
c.895G>C (p.Gly299Arg)
c.940G>C (p.Gly314Arg)
c.772G>C (p.Gly258Arg)
c.1063G>C (p.Gly355Arg)
4g.154569627G=CA1504935356FGBc.1072G= (p.Gly358=)
n.939+320G=
c.415G= (p.Gly139=)
c.895G= (p.Gly299=)
c.940G= (p.Gly314=)
c.772G= (p.Gly258=)
c.1063G= (p.Gly355=)
4g.154569627G>TCA358515004FGBc.1072G>T (p.Gly358Ter)
n.939+320G>T
c.415G>T (p.Gly139Ter)
c.895G>T (p.Gly299Ter)
c.940G>T (p.Gly314Ter)
c.772G>T (p.Gly258Ter)
c.1063G>T (p.Gly355Ter)
4g.154569628G>ACA358515006FGBc.1073G>A (p.Gly358Glu)
n.939+321G>A
c.416G>A (p.Gly139Glu)
c.896G>A (p.Gly299Glu)
c.941G>A (p.Gly314Glu)
c.773G>A (p.Gly258Glu)
c.1064G>A (p.Gly355Glu)
 gnomAD v4
4g.154569628G>CCA358515007FGBc.1073G>C (p.Gly358Ala)
n.939+321G>C
c.416G>C (p.Gly139Ala)
c.896G>C (p.Gly299Ala)
c.941G>C (p.Gly314Ala)
c.773G>C (p.Gly258Ala)
c.1064G>C (p.Gly355Ala)
4g.154569628G>TCA358515009FGBc.1073G>T (p.Gly358Val)
n.939+321G>T
c.416G>T (p.Gly139Val)
c.896G>T (p.Gly299Val)
c.941G>T (p.Gly314Val)
c.773G>T (p.Gly258Val)
c.1064G>T (p.Gly355Val)
4g.154569629A=CA1504935361FGBc.1074A= (p.Gly358=)
n.939+322A=
c.417A= (p.Gly139=)
c.897A= (p.Gly299=)
c.942A= (p.Gly314=)
c.774A= (p.Gly258=)
c.1065A= (p.Gly355=)
4g.154569629A>CCA442013336FGBc.1074A>C (p.Gly358=)
n.939+322A>C
c.417A>C (p.Gly139=)
c.897A>C (p.Gly299=)
c.942A>C (p.Gly314=)
c.774A>C (p.Gly258=)
c.1065A>C (p.Gly355=)
 dbSNP
4g.154569629A>GCA442013338FGBc.1074A>G (p.Gly358=)
n.939+322A>G
c.417A>G (p.Gly139=)
c.897A>G (p.Gly299=)
c.942A>G (p.Gly314=)
c.774A>G (p.Gly258=)
c.1065A>G (p.Gly355=)
4g.154569629A>TCA442013341FGBc.1074A>T (p.Gly358=)
n.939+322A>T
c.417A>T (p.Gly139=)
c.897A>T (p.Gly299=)
c.942A>T (p.Gly314=)
c.774A>T (p.Gly258=)
c.1065A>T (p.Gly355=)
4g.154569630T>ACA358515011FGBc.1075T>A (p.Phe359Ile)
n.939+323T>A
c.418T>A (p.Phe140Ile)
c.898T>A (p.Phe300Ile)
c.943T>A (p.Phe315Ile)
c.775T>A (p.Phe259Ile)
c.1066T>A (p.Phe356Ile)
4g.154569630T>CCA358515013FGBc.1075T>C (p.Phe359Leu)
n.939+323T>C
c.418T>C (p.Phe140Leu)
c.898T>C (p.Phe300Leu)
c.943T>C (p.Phe315Leu)
c.775T>C (p.Phe259Leu)
c.1066T>C (p.Phe356Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569630T>GCA358515014FGBc.1075T>G (p.Phe359Val)
n.939+323T>G
c.418T>G (p.Phe140Val)
c.898T>G (p.Phe300Val)
c.943T>G (p.Phe315Val)
c.775T>G (p.Phe259Val)
c.1066T>G (p.Phe356Val)
4g.154569630T=CA1504935364FGBc.1075T= (p.Phe359=)
n.939+323T=
c.418T= (p.Phe140=)
c.898T= (p.Phe300=)
c.943T= (p.Phe315=)
c.775T= (p.Phe259=)
c.1066T= (p.Phe356=)
4g.154569631T>ACA358515015FGBc.1076T>A (p.Phe359Tyr)
n.939+324T>A
c.419T>A (p.Phe140Tyr)
c.899T>A (p.Phe300Tyr)
c.944T>A (p.Phe315Tyr)
c.776T>A (p.Phe259Tyr)
c.1067T>A (p.Phe356Tyr)
4g.154569631T>CCA358515017FGBc.1076T>C (p.Phe359Ser)
n.939+324T>C
c.419T>C (p.Phe140Ser)
c.899T>C (p.Phe300Ser)
c.944T>C (p.Phe315Ser)
c.776T>C (p.Phe259Ser)
c.1067T>C (p.Phe356Ser)
4g.154569631T>GCA358515020FGBc.1076T>G (p.Phe359Cys)
n.939+324T>G
c.419T>G (p.Phe140Cys)
c.899T>G (p.Phe300Cys)
c.944T>G (p.Phe315Cys)
c.776T>G (p.Phe259Cys)
c.1067T>G (p.Phe356Cys)
4g.154569632C>ACA358515022FGBc.1077C>A (p.Phe359Leu)
n.939+325C>A
c.420C>A (p.Phe140Leu)
c.900C>A (p.Phe300Leu)
c.945C>A (p.Phe315Leu)
c.777C>A (p.Phe259Leu)
c.1068C>A (p.Phe356Leu)
4g.154569632C>GCA358515024FGBc.1077C>G (p.Phe359Leu)
n.939+325C>G
c.420C>G (p.Phe140Leu)
c.900C>G (p.Phe300Leu)
c.945C>G (p.Phe315Leu)
c.777C>G (p.Phe259Leu)
c.1068C>G (p.Phe356Leu)
4g.154569632C>TCA442013348FGBc.1077C>T (p.Phe359=)
n.939+325C>T
c.420C>T (p.Phe140=)
c.900C>T (p.Phe300=)
c.945C>T (p.Phe315=)
c.777C>T (p.Phe259=)
c.1068C>T (p.Phe356=)
4g.154569633A=CA1504935368FGBc.1078A= (p.Thr360=)
n.939+326A=
c.421A= (p.Thr141=)
c.901A= (p.Thr301=)
c.946A= (p.Thr316=)
c.778A= (p.Thr260=)
c.1069A= (p.Thr357=)
4g.154569633A>CCA358515029FGBc.1078A>C (p.Thr360Pro)
n.939+326A>C
c.421A>C (p.Thr141Pro)
c.901A>C (p.Thr301Pro)
c.946A>C (p.Thr316Pro)
c.778A>C (p.Thr260Pro)
c.1069A>C (p.Thr357Pro)
4g.154569633A>GCA358515031FGBc.1078A>G (p.Thr360Ala)
n.939+326A>G
c.421A>G (p.Thr141Ala)
c.901A>G (p.Thr301Ala)
c.946A>G (p.Thr316Ala)
c.778A>G (p.Thr260Ala)
c.1069A>G (p.Thr357Ala)
 dbSNP gnomAD v2 gnomAD v4
4g.154569633A>TCA358515032FGBc.1078A>T (p.Thr360Ser)
n.939+326A>T
c.421A>T (p.Thr141Ser)
c.901A>T (p.Thr301Ser)
c.946A>T (p.Thr316Ser)
c.778A>T (p.Thr260Ser)
c.1069A>T (p.Thr357Ser)
4g.154569634C>ACA358515034FGBc.1079C>A (p.Thr360Asn)
n.939+327C>A
c.422C>A (p.Thr141Asn)
c.902C>A (p.Thr301Asn)
c.947C>A (p.Thr316Asn)
c.779C>A (p.Thr260Asn)
c.1070C>A (p.Thr357Asn)
4g.154569634C=CA1504935371FGBc.1079C= (p.Thr360=)
n.939+327C=
c.422C= (p.Thr141=)
c.902C= (p.Thr301=)
c.947C= (p.Thr316=)
c.779C= (p.Thr260=)
c.1070C= (p.Thr357=)
4g.154569634C>GCA358515036FGBc.1079C>G (p.Thr360Ser)
n.939+327C>G
c.422C>G (p.Thr141Ser)
c.902C>G (p.Thr301Ser)
c.947C>G (p.Thr316Ser)
c.779C>G (p.Thr260Ser)
c.1070C>G (p.Thr357Ser)
4g.154569634C>TCA3114717FGBc.1079C>T (p.Thr360Ile)
n.939+327C>T
c.422C>T (p.Thr141Ile)
c.902C>T (p.Thr301Ile)
c.947C>T (p.Thr316Ile)
c.779C>T (p.Thr260Ile)
c.1070C>T (p.Thr357Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569635T>ACA442013353FGBc.1080T>A (p.Thr360=)
n.939+328T>A
c.423T>A (p.Thr141=)
c.903T>A (p.Thr301=)
c.948T>A (p.Thr316=)
c.780T>A (p.Thr260=)
c.1071T>A (p.Thr357=)
4g.154569635T>CCA442013354FGBc.1080T>C (p.Thr360=)
n.939+328T>C
c.423T>C (p.Thr141=)
c.903T>C (p.Thr301=)
c.948T>C (p.Thr316=)
c.780T>C (p.Thr260=)
c.1071T>C (p.Thr357=)
 gnomAD v4
4g.154569635T>GCA442013355FGBc.1080T>G (p.Thr360=)
n.939+328T>G
c.423T>G (p.Thr141=)
c.903T>G (p.Thr301=)
c.948T>G (p.Thr316=)
c.780T>G (p.Thr260=)
c.1071T>G (p.Thr357=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569635T=CA1504935375FGBc.1080T= (p.Thr360=)
n.939+328T=
c.423T= (p.Thr141=)
c.903T= (p.Thr301=)
c.948T= (p.Thr316=)
c.780T= (p.Thr260=)
c.1071T= (p.Thr357=)
4g.154569636G>ACA358515038FGBc.1081G>A (p.Val361Ile)
n.939+329G>A
c.424G>A (p.Val142Ile)
c.904G>A (p.Val302Ile)
c.949G>A (p.Val317Ile)
c.781G>A (p.Val261Ile)
c.1072G>A (p.Val358Ile)
c.1080+1G>A (n.1080+1G>A)
 dbSNP gnomAD v4
4g.154569636G>CCA358515040FGBc.1081G>C (p.Val361Leu)
n.939+329G>C
c.424G>C (p.Val142Leu)
c.904G>C (p.Val302Leu)
c.949G>C (p.Val317Leu)
c.781G>C (p.Val261Leu)
c.1072G>C (p.Val358Leu)
c.1080+1G>C (n.1080+1G>C)
4g.154569636G=CA1504935378FGBc.1081G= (p.Val361=)
n.939+329G=
c.424G= (p.Val142=)
c.904G= (p.Val302=)
c.949G= (p.Val317=)
c.781G= (p.Val261=)
c.1072G= (p.Val358=)
c.1080+1G= (n.1080+1G=)
4g.154569636G>TCA3114718FGBc.1081G>T (p.Val361Leu)
n.939+329G>T
c.424G>T (p.Val142Leu)
c.904G>T (p.Val302Leu)
c.949G>T (p.Val317Leu)
c.781G>T (p.Val261Leu)
c.1072G>T (p.Val358Leu)
c.1080+1G>T (n.1080+1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
4g.154569637T>ACA358515042FGBc.1082T>A (p.Val361Glu)
n.939+330T>A
c.425T>A (p.Val142Glu)
c.905T>A (p.Val302Glu)
c.950T>A (p.Val317Glu)
c.782T>A (p.Val261Glu)
c.1073T>A (p.Val358Glu)
c.1080+2T>A (n.1080+2T>A)
4g.154569637T>CCA358515043FGBc.1082T>C (p.Val361Ala)
n.939+330T>C
c.425T>C (p.Val142Ala)
c.905T>C (p.Val302Ala)
c.950T>C (p.Val317Ala)
c.782T>C (p.Val261Ala)
c.1073T>C (p.Val358Ala)
c.1080+2T>C (n.1080+2T>C)
4g.154569637T>GCA358515045FGBc.1082T>G (p.Val361Gly)
n.939+330T>G
c.425T>G (p.Val142Gly)
c.905T>G (p.Val302Gly)
c.950T>G (p.Val317Gly)
c.782T>G (p.Val261Gly)
c.1073T>G (p.Val358Gly)
c.1080+2T>G (n.1080+2T>G)
4g.154569638A=CA1504935381FGBc.1083A= (p.Val361=)
n.939+331A=
c.426A= (p.Val142=)
c.906A= (p.Val302=)
c.951A= (p.Val317=)
c.783A= (p.Val261=)
c.1074A= (p.Val358=)
c.1080+3A= (n.1080+3A=)
4g.154569638A>CCA442013362FGBc.1083A>C (p.Val361=)
n.939+331A>C
c.426A>C (p.Val142=)
c.906A>C (p.Val302=)
c.951A>C (p.Val317=)
c.783A>C (p.Val261=)
c.1074A>C (p.Val358=)
c.1080+3A>C (n.1080+3A>C)
4g.154569638A>GCA442013360FGBc.1083A>G (p.Val361=)
n.939+331A>G
c.426A>G (p.Val142=)
c.906A>G (p.Val302=)
c.951A>G (p.Val317=)
c.783A>G (p.Val261=)
c.1074A>G (p.Val358=)
c.1080+3A>G (n.1080+3A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.154569638A>TCA442013361FGBc.1083A>T (p.Val361=)
n.939+331A>T
c.426A>T (p.Val142=)
c.906A>T (p.Val302=)
c.951A>T (p.Val317=)
c.783A>T (p.Val261=)
c.1074A>T (p.Val358=)
c.1080+3A>T (n.1080+3A>T)
4g.154569639C>ACA358515049FGBc.1084C>A (p.Gln362Lys)
n.939+332C>A
c.427C>A (p.Gln143Lys)
c.907C>A (p.Gln303Lys)
c.952C>A (p.Gln318Lys)
c.784C>A (p.Gln262Lys)
c.1075C>A (p.Gln359Lys)
c.1080+4C>A (n.1080+4C>A)
4g.154569639C=CA1504935386FGBc.1084C= (p.Gln362=)
n.939+332C=
c.427C= (p.Gln143=)
c.907C= (p.Gln303=)
c.952C= (p.Gln318=)
c.784C= (p.Gln262=)
c.1075C= (p.Gln359=)
c.1080+4C= (n.1080+4C=)
4g.154569639C>GCA358515048FGBc.1084C>G (p.Gln362Glu)
n.939+332C>G
c.427C>G (p.Gln143Glu)
c.907C>G (p.Gln303Glu)
c.952C>G (p.Gln318Glu)
c.784C>G (p.Gln262Glu)
c.1075C>G (p.Gln359Glu)
c.1080+4C>G (n.1080+4C>G)
4g.154569639C>TCA108751650FGBc.1084C>T (p.Gln362Ter)
n.939+332C>T
c.427C>T (p.Gln143Ter)
c.907C>T (p.Gln303Ter)
c.952C>T (p.Gln318Ter)
c.784C>T (p.Gln262Ter)
c.1075C>T (p.Gln359Ter)
c.1080+4C>T (n.1080+4C>T)
 dbSNP
4g.154569640A=CA1504935389FGBc.1085A= (p.Gln362=)
n.939+333A=
c.428A= (p.Gln143=)
c.908A= (p.Gln303=)
c.953A= (p.Gln318=)
c.785A= (p.Gln262=)
c.1076A= (p.Gln359=)
c.1080+5A= (n.1080+5A=)
4g.154569640A>CCA358515051FGBc.1085A>C (p.Gln362Pro)
n.939+333A>C
c.428A>C (p.Gln143Pro)
c.908A>C (p.Gln303Pro)
c.953A>C (p.Gln318Pro)
c.785A>C (p.Gln262Pro)
c.1076A>C (p.Gln359Pro)
c.1080+5A>C (n.1080+5A>C)
4g.154569640A>GCA358515053FGBc.1085A>G (p.Gln362Arg)
n.939+333A>G
c.428A>G (p.Gln143Arg)
c.908A>G (p.Gln303Arg)
c.953A>G (p.Gln318Arg)
c.785A>G (p.Gln262Arg)
c.1076A>G (p.Gln359Arg)
c.1080+5A>G (n.1080+5A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.154569640A>TCA358515055FGBc.1085A>T (p.Gln362Leu)
n.939+333A>T
c.428A>T (p.Gln143Leu)
c.908A>T (p.Gln303Leu)
c.953A>T (p.Gln318Leu)
c.785A>T (p.Gln262Leu)
c.1076A>T (p.Gln359Leu)
c.1080+5A>T (n.1080+5A>T)
4g.154569641G>ACA442013366FGBc.1086G>A (p.Gln362=)
n.939+334G>A
c.429G>A (p.Gln143=)
c.909G>A (p.Gln303=)
c.954G>A (p.Gln318=)
c.786G>A (p.Gln262=)
c.1077G>A (p.Gln359=)
c.1080+6G>A (n.1080+6G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569641G>CCA358515056FGBc.1086G>C (p.Gln362His)
n.939+334G>C
c.429G>C (p.Gln143His)
c.909G>C (p.Gln303His)
c.954G>C (p.Gln318His)
c.786G>C (p.Gln262His)
c.1077G>C (p.Gln359His)
c.1080+6G>C (n.1080+6G>C)
4g.154569641G=CA1504935391FGBc.1086G= (p.Gln362=)
n.939+334G=
c.429G= (p.Gln143=)
c.909G= (p.Gln303=)
c.954G= (p.Gln318=)
c.786G= (p.Gln262=)
c.1077G= (p.Gln359=)
c.1080+6G= (n.1080+6G=)
4g.154569641G>TCA358515058FGBc.1086G>T (p.Gln362His)
n.939+334G>T
c.429G>T (p.Gln143His)
c.909G>T (p.Gln303His)
c.954G>T (p.Gln318His)
c.786G>T (p.Gln262His)
c.1077G>T (p.Gln359His)
c.1080+6G>T (n.1080+6G>T)
 gnomAD v4 COSMIC
4g.154569642A>CCA358515059FGBc.1087A>C (p.Asn363His)
n.939+335A>C
c.430A>C (p.Asn144His)
c.910A>C (p.Asn304His)
c.955A>C (p.Asn319His)
c.787A>C (p.Asn263His)
c.1078A>C (p.Asn360His)
c.1080+7A>C (n.1080+7A>C)
4g.154569642A>GCA358515060FGBc.1087A>G (p.Asn363Asp)
n.939+335A>G
c.430A>G (p.Asn144Asp)
c.910A>G (p.Asn304Asp)
c.955A>G (p.Asn319Asp)
c.787A>G (p.Asn263Asp)
c.1078A>G (p.Asn360Asp)
c.1080+7A>G (n.1080+7A>G)
4g.154569642A>TCA358515061FGBc.1087A>T (p.Asn363Tyr)
n.939+335A>T
c.430A>T (p.Asn144Tyr)
c.910A>T (p.Asn304Tyr)
c.955A>T (p.Asn319Tyr)
c.787A>T (p.Asn263Tyr)
c.1078A>T (p.Asn360Tyr)
c.1080+7A>T (n.1080+7A>T)
4g.154569643A>CCA358515064FGBc.1088A>C (p.Asn363Thr)
n.939+336A>C
c.431A>C (p.Asn144Thr)
c.911A>C (p.Asn304Thr)
c.956A>C (p.Asn319Thr)
c.788A>C (p.Asn263Thr)
c.1079A>C (p.Asn360Thr)
c.1080+8A>C (n.1080+8A>C)
4g.154569643A>GCA358515065FGBc.1088A>G (p.Asn363Ser)
n.939+336A>G
c.431A>G (p.Asn144Ser)
c.911A>G (p.Asn304Ser)
c.956A>G (p.Asn319Ser)
c.788A>G (p.Asn263Ser)
c.1079A>G (p.Asn360Ser)
c.1080+8A>G (n.1080+8A>G)
4g.154569643A>TCA358515066FGBc.1088A>T (p.Asn363Ile)
n.939+336A>T
c.431A>T (p.Asn144Ile)
c.911A>T (p.Asn304Ile)
c.956A>T (p.Asn319Ile)
c.788A>T (p.Asn263Ile)
c.1079A>T (p.Asn360Ile)
c.1080+8A>T (n.1080+8A>T)
4g.154569644T>ACA358515067FGBc.1089T>A (p.Asn363Lys)
n.939+337T>A
c.432T>A (p.Asn144Lys)
c.912T>A (p.Asn304Lys)
c.957T>A (p.Asn319Lys)
c.789T>A (p.Asn263Lys)
c.1080T>A (p.Asn360Lys)
c.1080+9T>A (n.1080+9T>A)
4g.154569644T>CCA442013370FGBc.1089T>C (p.Asn363=)
n.939+337T>C
c.432T>C (p.Asn144=)
c.912T>C (p.Asn304=)
c.957T>C (p.Asn319=)
c.789T>C (p.Asn263=)
c.1080T>C (p.Asn360=)
c.1080+9T>C (n.1080+9T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.154569644T>GCA358515068FGBc.1089T>G (p.Asn363Lys)
n.939+337T>G
c.432T>G (p.Asn144Lys)
c.912T>G (p.Asn304Lys)
c.957T>G (p.Asn319Lys)
c.789T>G (p.Asn263Lys)
c.1080T>G (p.Asn360Lys)
c.1080+9T>G (n.1080+9T>G)
 dbSNP
4g.154569644T=CA1504935394FGBc.1089T= (p.Asn363=)
n.939+337T=
c.432T= (p.Asn144=)
c.912T= (p.Asn304=)
c.957T= (p.Asn319=)
c.789T= (p.Asn263=)
c.1080T= (p.Asn360=)
c.1080+9T= (n.1080+9T=)
4g.154569645G>ACA358515071FGBc.1090G>A (p.Glu364Lys)
n.939+338G>A
c.433G>A (p.Glu145Lys)
c.913G>A (p.Glu305Lys)
c.958G>A (p.Glu320Lys)
c.790G>A (p.Glu264Lys)
c.1081G>A (p.Glu361Lys)
c.1080+10G>A (n.1080+10G>A)
 COSMIC
4g.154569645G>CCA358515073FGBc.1090G>C (p.Glu364Gln)
n.939+338G>C
c.433G>C (p.Glu145Gln)
c.913G>C (p.Glu305Gln)
c.958G>C (p.Glu320Gln)
c.790G>C (p.Glu264Gln)
c.1081G>C (p.Glu361Gln)
c.1080+10G>C (n.1080+10G>C)
4g.154569645G>TCA358515070FGBc.1090G>T (p.Glu364Ter)
n.939+338G>T
c.433G>T (p.Glu145Ter)
c.913G>T (p.Glu305Ter)
c.958G>T (p.Glu320Ter)
c.790G>T (p.Glu264Ter)
c.1081G>T (p.Glu361Ter)
c.1080+10G>T (n.1080+10G>T)
4g.154569646A>CCA358515075FGBc.1091A>C (p.Glu364Ala)
n.939+339A>C
c.434A>C (p.Glu145Ala)
c.914A>C (p.Glu305Ala)
c.959A>C (p.Glu320Ala)
c.791A>C (p.Glu264Ala)
c.1082A>C (p.Glu361Ala)
c.1080+11A>C (n.1080+11A>C)
4g.154569646A>GCA358515078FGBc.1091A>G (p.Glu364Gly)
n.939+339A>G
c.434A>G (p.Glu145Gly)
c.914A>G (p.Glu305Gly)
c.959A>G (p.Glu320Gly)
c.791A>G (p.Glu264Gly)
c.1082A>G (p.Glu361Gly)
c.1080+11A>G (n.1080+11A>G)
4g.154569646A>TCA358515076FGBc.1091A>T (p.Glu364Val)
n.939+339A>T
c.434A>T (p.Glu145Val)
c.914A>T (p.Glu305Val)
c.959A>T (p.Glu320Val)
c.791A>T (p.Glu264Val)
c.1082A>T (p.Glu361Val)
c.1080+11A>T (n.1080+11A>T)
4g.154569647A=CA1504935397FGBc.1092A= (p.Glu364=)
n.939+340A=
c.435A= (p.Glu145=)
c.915A= (p.Glu305=)
c.960A= (p.Glu320=)
c.792A= (p.Glu264=)
c.1083A= (p.Glu361=)
c.1080+12A= (n.1080+12A=)
4g.154569647A>CCA358515080FGBc.1092A>C (p.Glu364Asp)
n.939+340A>C
c.435A>C (p.Glu145Asp)
c.915A>C (p.Glu305Asp)
c.960A>C (p.Glu320Asp)
c.792A>C (p.Glu264Asp)
c.1083A>C (p.Glu361Asp)
c.1080+12A>C (n.1080+12A>C)
4g.154569647A>GCA108751653FGBc.1092A>G (p.Glu364=)
n.939+340A>G
c.435A>G (p.Glu145=)
c.915A>G (p.Glu305=)
c.960A>G (p.Glu320=)
c.792A>G (p.Glu264=)
c.1083A>G (p.Glu361=)
c.1080+12A>G (n.1080+12A>G)
 dbSNP
4g.154569647A>TCA358515081FGBc.1092A>T (p.Glu364Asp)
n.939+340A>T
c.435A>T (p.Glu145Asp)
c.915A>T (p.Glu305Asp)
c.960A>T (p.Glu320Asp)
c.792A>T (p.Glu264Asp)
c.1083A>T (p.Glu361Asp)
c.1080+12A>T (n.1080+12A>T)
4g.154569648G>ACA126431FGBc.1093G>A (p.Ala365Thr)
n.939+341G>A
c.436G>A (p.Ala146Thr)
c.916G>A (p.Ala306Thr)
c.961G>A (p.Ala321Thr)
c.793G>A (p.Ala265Thr)
c.1084G>A (p.Ala362Thr)
c.1080+13G>A (n.1080+13G>A)
 ClinVar dbSNP
4g.154569648G>CCA358515084FGBc.1093G>C (p.Ala365Pro)
n.939+341G>C
c.436G>C (p.Ala146Pro)
c.916G>C (p.Ala306Pro)
c.961G>C (p.Ala321Pro)
c.793G>C (p.Ala265Pro)
c.1084G>C (p.Ala362Pro)
c.1080+13G>C (n.1080+13G>C)
4g.154569648G=CA1504935402FGBc.1093G= (p.Ala365=)
n.939+341G=
c.436G= (p.Ala146=)
c.916G= (p.Ala306=)
c.961G= (p.Ala321=)
c.793G= (p.Ala265=)
c.1084G= (p.Ala362=)
c.1080+13G= (n.1080+13G=)
4g.154569648G>TCA358515085FGBc.1093G>T (p.Ala365Ser)
n.939+341G>T
c.436G>T (p.Ala146Ser)
c.916G>T (p.Ala306Ser)
c.961G>T (p.Ala321Ser)
c.793G>T (p.Ala265Ser)
c.1084G>T (p.Ala362Ser)
c.1080+13G>T (n.1080+13G>T)
4g.154569649C>ACA358515087FGBc.1094C>A (p.Ala365Asp)
n.939+342C>A
c.437C>A (p.Ala146Asp)
c.917C>A (p.Ala306Asp)
c.962C>A (p.Ala321Asp)
c.794C>A (p.Ala265Asp)
c.1085C>A (p.Ala362Asp)
c.1080+14C>A (n.1080+14C>A)
4g.154569649C>GCA358515088FGBc.1094C>G (p.Ala365Gly)
n.939+342C>G
c.437C>G (p.Ala146Gly)
c.917C>G (p.Ala306Gly)
c.962C>G (p.Ala321Gly)
c.794C>G (p.Ala265Gly)
c.1085C>G (p.Ala362Gly)
c.1080+14C>G (n.1080+14C>G)
4g.154569649C>TCA358515090FGBc.1094C>T (p.Ala365Val)
n.939+342C>T
c.437C>T (p.Ala146Val)
c.917C>T (p.Ala306Val)
c.962C>T (p.Ala321Val)
c.794C>T (p.Ala265Val)
c.1085C>T (p.Ala362Val)
c.1080+14C>T (n.1080+14C>T)
4g.154569650C>ACA442013385FGBc.1095C>A (p.Ala365=)
n.939+343C>A
c.438C>A (p.Ala146=)
c.918C>A (p.Ala306=)
c.963C>A (p.Ala321=)
c.795C>A (p.Ala265=)
c.1086C>A (p.Ala362=)
c.1080+15C>A (n.1080+15C>A)
4g.154569650C>GCA442013386FGBc.1095C>G (p.Ala365=)
n.939+343C>G
c.438C>G (p.Ala146=)
c.918C>G (p.Ala306=)
c.963C>G (p.Ala321=)
c.795C>G (p.Ala265=)
c.1086C>G (p.Ala362=)
c.1080+15C>G (n.1080+15C>G)
4g.154569650C>TCA442013387FGBc.1095C>T (p.Ala365=)
n.939+343C>T
c.438C>T (p.Ala146=)
c.918C>T (p.Ala306=)
c.963C>T (p.Ala321=)
c.795C>T (p.Ala265=)
c.1086C>T (p.Ala362=)
c.1080+15C>T (n.1080+15C>T)
 gnomAD v4
4g.154569651A>CCA358515092FGBc.1096A>C (p.Asn366His)
n.939+344A>C
c.439A>C (p.Asn147His)
c.919A>C (p.Asn307His)
c.964A>C (p.Asn322His)
c.796A>C (p.Asn266His)
c.1087A>C (p.Asn363His)
c.1080+16A>C (n.1080+16A>C)
4g.154569651A>GCA358515094FGBc.1096A>G (p.Asn366Asp)
n.939+344A>G
c.439A>G (p.Asn147Asp)
c.919A>G (p.Asn307Asp)
c.964A>G (p.Asn322Asp)
c.796A>G (p.Asn266Asp)
c.1087A>G (p.Asn363Asp)
c.1080+16A>G (n.1080+16A>G)
4g.154569651A>TCA358515095FGBc.1096A>T (p.Asn366Tyr)
n.939+344A>T
c.439A>T (p.Asn147Tyr)
c.919A>T (p.Asn307Tyr)
c.964A>T (p.Asn322Tyr)
c.796A>T (p.Asn266Tyr)
c.1087A>T (p.Asn363Tyr)
c.1080+16A>T (n.1080+16A>T)
4g.154569652A=CA1504935408FGBc.1097A= (p.Asn366=)
n.939+345A=
c.440A= (p.Asn147=)
c.920A= (p.Asn307=)
c.965A= (p.Asn322=)
c.797A= (p.Asn266=)
c.1088A= (p.Asn363=)
c.1080+17A= (n.1080+17A=)
4g.154569652A>CCA358515100FGBc.1097A>C (p.Asn366Thr)
n.939+345A>C
c.440A>C (p.Asn147Thr)
c.920A>C (p.Asn307Thr)
c.965A>C (p.Asn322Thr)
c.797A>C (p.Asn266Thr)
c.1088A>C (p.Asn363Thr)
c.1080+17A>C (n.1080+17A>C)
4g.154569652A>GCA358515098FGBc.1097A>G (p.Asn366Ser)
n.939+345A>G
c.440A>G (p.Asn147Ser)
c.920A>G (p.Asn307Ser)
c.965A>G (p.Asn322Ser)
c.797A>G (p.Asn266Ser)
c.1088A>G (p.Asn363Ser)
c.1080+17A>G (n.1080+17A>G)
 dbSNP gnomAD v4 COSMIC
4g.154569652A>TCA358515097FGBc.1097A>T (p.Asn366Ile)
n.939+345A>T
c.440A>T (p.Asn147Ile)
c.920A>T (p.Asn307Ile)
c.965A>T (p.Asn322Ile)
c.797A>T (p.Asn266Ile)
c.1088A>T (p.Asn363Ile)
c.1080+17A>T (n.1080+17A>T)
4g.154569653C>ACA358515101FGBc.1098C>A (p.Asn366Lys)
n.939+346C>A
c.441C>A (p.Asn147Lys)
c.921C>A (p.Asn307Lys)
c.966C>A (p.Asn322Lys)
c.798C>A (p.Asn266Lys)
c.1089C>A (p.Asn363Lys)
c.1080+18C>A (n.1080+18C>A)
 dbSNP
4g.154569653C=CA1504935412FGBc.1098C= (p.Asn366=)
n.939+346C=
c.441C= (p.Asn147=)
c.921C= (p.Asn307=)
c.966C= (p.Asn322=)
c.798C= (p.Asn266=)
c.1089C= (p.Asn363=)
c.1080+18C= (n.1080+18C=)
4g.154569653C>GCA358515103FGBc.1098C>G (p.Asn366Lys)
n.939+346C>G
c.441C>G (p.Asn147Lys)
c.921C>G (p.Asn307Lys)
c.966C>G (p.Asn322Lys)
c.798C>G (p.Asn266Lys)
c.1089C>G (p.Asn363Lys)
c.1080+18C>G (n.1080+18C>G)
4g.154569653C>TCA442013390FGBc.1098C>T (p.Asn366=)
n.939+346C>T
c.441C>T (p.Asn147=)
c.921C>T (p.Asn307=)
c.966C>T (p.Asn322=)
c.798C>T (p.Asn266=)
c.1089C>T (p.Asn363=)
c.1080+18C>T (n.1080+18C>T)
 dbSNP
4g.154569654A>CCA358515105FGBc.1099A>C (p.Lys367Gln)
n.939+347A>C
c.442A>C (p.Lys148Gln)
c.922A>C (p.Lys308Gln)
c.967A>C (p.Lys323Gln)
c.799A>C (p.Lys267Gln)
c.1090A>C (p.Lys364Gln)
c.1080+19A>C (n.1080+19A>C)
4g.154569654A>GCA358515107FGBc.1099A>G (p.Lys367Glu)
n.939+347A>G
c.442A>G (p.Lys148Glu)
c.922A>G (p.Lys308Glu)
c.967A>G (p.Lys323Glu)
c.799A>G (p.Lys267Glu)
c.1090A>G (p.Lys364Glu)
c.1080+19A>G (n.1080+19A>G)
4g.154569654A>TCA358515108FGBc.1099A>T (p.Lys367Ter)
n.939+347A>T
c.442A>T (p.Lys148Ter)
c.922A>T (p.Lys308Ter)
c.967A>T (p.Lys323Ter)
c.799A>T (p.Lys267Ter)
c.1090A>T (p.Lys364Ter)
c.1080+19A>T (n.1080+19A>T)
4g.154569655A=CA1504935416FGBc.1100A= (p.Lys367=)
n.939+348A=
c.443A= (p.Lys148=)
c.923A= (p.Lys308=)
c.968A= (p.Lys323=)
c.800A= (p.Lys267=)
c.1091A= (p.Lys364=)
c.1080+20A= (n.1080+20A=)
4g.154569655A>CCA358515110FGBc.1100A>C (p.Lys367Thr)
n.939+348A>C
c.443A>C (p.Lys148Thr)
c.923A>C (p.Lys308Thr)
c.968A>C (p.Lys323Thr)
c.800A>C (p.Lys267Thr)
c.1091A>C (p.Lys364Thr)
c.1080+20A>C (n.1080+20A>C)
4g.154569655A>GCA358515111FGBc.1100A>G (p.Lys367Arg)
n.939+348A>G
c.443A>G (p.Lys148Arg)
c.923A>G (p.Lys308Arg)
c.968A>G (p.Lys323Arg)
c.800A>G (p.Lys267Arg)
c.1091A>G (p.Lys364Arg)
c.1080+20A>G (n.1080+20A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.154569655A>TCA358515112FGBc.1100A>T (p.Lys367Ile)
n.939+348A>T
c.443A>T (p.Lys148Ile)
c.923A>T (p.Lys308Ile)
c.968A>T (p.Lys323Ile)
c.800A>T (p.Lys267Ile)
c.1091A>T (p.Lys364Ile)
c.1080+20A>T (n.1080+20A>T)
4g.154569656A=CA1504935419FGBc.1101A= (p.Lys367=)
n.939+349A=
c.444A= (p.Lys148=)
c.924A= (p.Lys308=)
c.969A= (p.Lys323=)
c.801A= (p.Lys267=)
c.1092A= (p.Lys364=)
c.1080+21A= (n.1080+21A=)
4g.154569656A>CCA358515114FGBc.1101A>C (p.Lys367Asn)
n.939+349A>C
c.444A>C (p.Lys148Asn)
c.924A>C (p.Lys308Asn)
c.969A>C (p.Lys323Asn)
c.801A>C (p.Lys267Asn)
c.1092A>C (p.Lys364Asn)
c.1080+21A>C (n.1080+21A>C)
4g.154569656A>GCA442013396FGBc.1101A>G (p.Lys367=)
n.939+349A>G
c.444A>G (p.Lys148=)
c.924A>G (p.Lys308=)
c.969A>G (p.Lys323=)
c.801A>G (p.Lys267=)
c.1092A>G (p.Lys364=)
c.1080+21A>G (n.1080+21A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569656A>TCA358515115FGBc.1101A>T (p.Lys367Asn)
n.939+349A>T
c.444A>T (p.Lys148Asn)
c.924A>T (p.Lys308Asn)
c.969A>T (p.Lys323Asn)
c.801A>T (p.Lys267Asn)
c.1092A>T (p.Lys364Asn)
c.1080+21A>T (n.1080+21A>T)
4g.154569657T>ACA358515117FGBc.1102T>A (p.Tyr368Asn)
n.939+350T>A
c.445T>A (p.Tyr149Asn)
c.925T>A (p.Tyr309Asn)
c.970T>A (p.Tyr324Asn)
c.802T>A (p.Tyr268Asn)
c.1093T>A (p.Tyr365Asn)
c.1080+22T>A (n.1080+22T>A)
4g.154569657T>CCA358515119FGBc.1102T>C (p.Tyr368His)
n.939+350T>C
c.445T>C (p.Tyr149His)
c.925T>C (p.Tyr309His)
c.970T>C (p.Tyr324His)
c.802T>C (p.Tyr268His)
c.1093T>C (p.Tyr365His)
c.1080+22T>C (n.1080+22T>C)
 gnomAD v4
4g.154569657T>GCA358515120FGBc.1102T>G (p.Tyr368Asp)
n.939+350T>G
c.445T>G (p.Tyr149Asp)
c.925T>G (p.Tyr309Asp)
c.970T>G (p.Tyr324Asp)
c.802T>G (p.Tyr268Asp)
c.1093T>G (p.Tyr365Asp)
c.1080+22T>G (n.1080+22T>G)
4g.154569658A>CCA358515123FGBc.1103A>C (p.Tyr368Ser)
n.939+351A>C
c.446A>C (p.Tyr149Ser)
c.926A>C (p.Tyr309Ser)
c.971A>C (p.Tyr324Ser)
c.803A>C (p.Tyr268Ser)
c.1094A>C (p.Tyr365Ser)
c.1080+23A>C (n.1080+23A>C)
4g.154569658A>GCA358515125FGBc.1103A>G (p.Tyr368Cys)
n.939+351A>G
c.446A>G (p.Tyr149Cys)
c.926A>G (p.Tyr309Cys)
c.971A>G (p.Tyr324Cys)
c.803A>G (p.Tyr268Cys)
c.1094A>G (p.Tyr365Cys)
c.1080+23A>G (n.1080+23A>G)
 COSMIC
4g.154569658A>TCA358515121FGBc.1103A>T (p.Tyr368Phe)
n.939+351A>T
c.446A>T (p.Tyr149Phe)
c.926A>T (p.Tyr309Phe)
c.971A>T (p.Tyr324Phe)
c.803A>T (p.Tyr268Phe)
c.1094A>T (p.Tyr365Phe)
c.1080+23A>T (n.1080+23A>T)
4g.154569659C>ACA358515126FGBc.1104C>A (p.Tyr368Ter)
n.939+352C>A
c.447C>A (p.Tyr149Ter)
c.927C>A (p.Tyr309Ter)
c.972C>A (p.Tyr324Ter)
c.804C>A (p.Tyr268Ter)
c.1095C>A (p.Tyr365Ter)
c.1080+24C>A (n.1080+24C>A)
4g.154569659C>GCA358515127FGBc.1104C>G (p.Tyr368Ter)
n.939+352C>G
c.447C>G (p.Tyr149Ter)
c.927C>G (p.Tyr309Ter)
c.972C>G (p.Tyr324Ter)
c.804C>G (p.Tyr268Ter)
c.1095C>G (p.Tyr365Ter)
c.1080+24C>G (n.1080+24C>G)
 dbSNP
4g.154569659C>TCA442013400FGBc.1104C>T (p.Tyr368=)
n.939+352C>T
c.447C>T (p.Tyr149=)
c.927C>T (p.Tyr309=)
c.972C>T (p.Tyr324=)
c.804C>T (p.Tyr268=)
c.1095C>T (p.Tyr365=)
c.1080+24C>T (n.1080+24C>T)
4g.154569660C>ACA358515129FGBc.1105C>A (p.Gln369Lys)
n.939+353C>A
c.448C>A (p.Gln150Lys)
c.928C>A (p.Gln310Lys)
c.973C>A (p.Gln325Lys)
c.805C>A (p.Gln269Lys)
c.1096C>A (p.Gln366Lys)
c.1080+25C>A (n.1080+25C>A)
4g.154569660C=CA1504935421FGBc.1105C= (p.Gln369=)
n.939+353C=
c.448C= (p.Gln150=)
c.928C= (p.Gln310=)
c.973C= (p.Gln325=)
c.805C= (p.Gln269=)
c.1096C= (p.Gln366=)
c.1080+25C= (n.1080+25C=)
4g.154569660C>GCA358515131FGBc.1105C>G (p.Gln369Glu)
n.939+353C>G
c.448C>G (p.Gln150Glu)
c.928C>G (p.Gln310Glu)
c.973C>G (p.Gln325Glu)
c.805C>G (p.Gln269Glu)
c.1096C>G (p.Gln366Glu)
c.1080+25C>G (n.1080+25C>G)
4g.154569660C>TCA108751657FGBc.1105C>T (p.Gln369Ter)
n.939+353C>T
c.448C>T (p.Gln150Ter)
c.928C>T (p.Gln310Ter)
c.973C>T (p.Gln325Ter)
c.805C>T (p.Gln269Ter)
c.1096C>T (p.Gln366Ter)
c.1080+25C>T (n.1080+25C>T)
 dbSNP
4g.154569661A>CCA358515135FGBc.1106A>C (p.Gln369Pro)
n.939+354A>C
c.449A>C (p.Gln150Pro)
c.929A>C (p.Gln310Pro)
c.974A>C (p.Gln325Pro)
c.806A>C (p.Gln269Pro)
c.1097A>C (p.Gln366Pro)
c.1080+26A>C (n.1080+26A>C)
4g.154569661A>GCA358515136FGBc.1106A>G (p.Gln369Arg)
n.939+354A>G
c.449A>G (p.Gln150Arg)
c.929A>G (p.Gln310Arg)
c.974A>G (p.Gln325Arg)
c.806A>G (p.Gln269Arg)
c.1097A>G (p.Gln366Arg)
c.1080+26A>G (n.1080+26A>G)
4g.154569661A>TCA358515137FGBc.1106A>T (p.Gln369Leu)
n.939+354A>T
c.449A>T (p.Gln150Leu)
c.929A>T (p.Gln310Leu)
c.974A>T (p.Gln325Leu)
c.806A>T (p.Gln269Leu)
c.1097A>T (p.Gln366Leu)
c.1080+26A>T (n.1080+26A>T)
4g.154569662G>ACA442013403FGBc.1107G>A (p.Gln369=)
n.939+355G>A
c.450G>A (p.Gln150=)
c.930G>A (p.Gln310=)
c.975G>A (p.Gln325=)
c.807G>A (p.Gln269=)
c.1098G>A (p.Gln366=)
c.1080+27G>A (n.1080+27G>A)
 dbSNP
4g.154569662G>CCA358515139FGBc.1107G>C (p.Gln369His)
n.939+355G>C
c.450G>C (p.Gln150His)
c.930G>C (p.Gln310His)
c.975G>C (p.Gln325His)
c.807G>C (p.Gln269His)
c.1098G>C (p.Gln366His)
c.1080+27G>C (n.1080+27G>C)
4g.154569662G=CA1504935425FGBc.1107G= (p.Gln369=)
n.939+355G=
c.450G= (p.Gln150=)
c.930G= (p.Gln310=)
c.975G= (p.Gln325=)
c.807G= (p.Gln269=)
c.1098G= (p.Gln366=)
c.1080+27G= (n.1080+27G=)
4g.154569662G>TCA358515141FGBc.1107G>T (p.Gln369His)
n.939+355G>T
c.450G>T (p.Gln150His)
c.930G>T (p.Gln310His)
c.975G>T (p.Gln325His)
c.807G>T (p.Gln269His)
c.1098G>T (p.Gln366His)
c.1080+27G>T (n.1080+27G>T)
4g.154569663A=CA1504935429FGBc.1108A= (p.Ile370=)
n.939+356A=
c.451A= (p.Ile151=)
c.931A= (p.Ile311=)
c.976A= (p.Ile326=)
c.808A= (p.Ile270=)
c.1099A= (p.Ile367=)
c.1080+28A= (n.1080+28A=)
4g.154569663A>CCA358515146FGBc.1108A>C (p.Ile370Leu)
n.939+356A>C
c.451A>C (p.Ile151Leu)
c.931A>C (p.Ile311Leu)
c.976A>C (p.Ile326Leu)
c.808A>C (p.Ile270Leu)
c.1099A>C (p.Ile367Leu)
c.1080+28A>C (n.1080+28A>C)
4g.154569663A>GCA358515144FGBc.1108A>G (p.Ile370Val)
n.939+356A>G
c.451A>G (p.Ile151Val)
c.931A>G (p.Ile311Val)
c.976A>G (p.Ile326Val)
c.808A>G (p.Ile270Val)
c.1099A>G (p.Ile367Val)
c.1080+28A>G (n.1080+28A>G)
 dbSNP
4g.154569663A>TCA358515143FGBc.1108A>T (p.Ile370Phe)
n.939+356A>T
c.451A>T (p.Ile151Phe)
c.931A>T (p.Ile311Phe)
c.976A>T (p.Ile326Phe)
c.808A>T (p.Ile270Phe)
c.1099A>T (p.Ile367Phe)
c.1080+28A>T (n.1080+28A>T)
4g.154569664T>ACA358515147FGBc.1109T>A (p.Ile370Asn)
n.939+357T>A
c.452T>A (p.Ile151Asn)
c.932T>A (p.Ile311Asn)
c.977T>A (p.Ile326Asn)
c.809T>A (p.Ile270Asn)
c.1100T>A (p.Ile367Asn)
c.1080+29T>A (n.1080+29T>A)
4g.154569664T>CCA358515148FGBc.1109T>C (p.Ile370Thr)
n.939+357T>C
c.452T>C (p.Ile151Thr)
c.932T>C (p.Ile311Thr)
c.977T>C (p.Ile326Thr)
c.809T>C (p.Ile270Thr)
c.1100T>C (p.Ile367Thr)
c.1080+29T>C (n.1080+29T>C)
 COSMIC
4g.154569664T>GCA358515149FGBc.1109T>G (p.Ile370Ser)
n.939+357T>G
c.452T>G (p.Ile151Ser)
c.932T>G (p.Ile311Ser)
c.977T>G (p.Ile326Ser)
c.809T>G (p.Ile270Ser)
c.1100T>G (p.Ile367Ser)
c.1080+29T>G (n.1080+29T>G)
4g.154569665C>ACA442013408FGBc.1110C>A (p.Ile370=)
n.939+358C>A
c.453C>A (p.Ile151=)
c.933C>A (p.Ile311=)
c.978C>A (p.Ile326=)
c.810C>A (p.Ile270=)
c.1101C>A (p.Ile367=)
c.1080+30C>A (n.1080+30C>A)
4g.154569665C=CA1504935432FGBc.1110C= (p.Ile370=)
n.939+358C=
c.453C= (p.Ile151=)
c.933C= (p.Ile311=)
c.978C= (p.Ile326=)
c.810C= (p.Ile270=)
c.1101C= (p.Ile367=)
c.1080+30C= (n.1080+30C=)
4g.154569665C>GCA3114719FGBc.1110C>G (p.Ile370Met)
n.939+358C>G
c.453C>G (p.Ile151Met)
c.933C>G (p.Ile311Met)
c.978C>G (p.Ile326Met)
c.810C>G (p.Ile270Met)
c.1101C>G (p.Ile367Met)
c.1080+30C>G (n.1080+30C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569665C>TCA3114720FGBc.1110C>T (p.Ile370=)
n.939+358C>T
c.453C>T (p.Ile151=)
c.933C>T (p.Ile311=)
c.978C>T (p.Ile326=)
c.810C>T (p.Ile270=)
c.1101C>T (p.Ile367=)
c.1080+30C>T (n.1080+30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569666T>ACA358515151FGBc.1111T>A (p.Ser371Thr)
n.939+359T>A
c.454T>A (p.Ser152Thr)
c.934T>A (p.Ser312Thr)
c.979T>A (p.Ser327Thr)
c.811T>A (p.Ser271Thr)
c.1102T>A (p.Ser368Thr)
c.1080+31T>A (n.1080+31T>A)
 gnomAD v4
4g.154569666T>CCA358515152FGBc.1111T>C (p.Ser371Pro)
n.939+359T>C
c.454T>C (p.Ser152Pro)
c.934T>C (p.Ser312Pro)
c.979T>C (p.Ser327Pro)
c.811T>C (p.Ser271Pro)
c.1102T>C (p.Ser368Pro)
c.1080+31T>C (n.1080+31T>C)
4g.154569666T>GCA358515154FGBc.1111T>G (p.Ser371Ala)
n.939+359T>G
c.454T>G (p.Ser152Ala)
c.934T>G (p.Ser312Ala)
c.979T>G (p.Ser327Ala)
c.811T>G (p.Ser271Ala)
c.1102T>G (p.Ser368Ala)
c.1080+31T>G (n.1080+31T>G)
4g.154569667C>ACA358515156FGBc.1112C>A (p.Ser371Ter)
n.939+360C>A
c.455C>A (p.Ser152Ter)
c.935C>A (p.Ser312Ter)
c.980C>A (p.Ser327Ter)
c.812C>A (p.Ser271Ter)
c.1103C>A (p.Ser368Ter)
c.1080+32C>A (n.1080+32C>A)
4g.154569667C>GCA358515157FGBc.1112C>G (p.Ser371Ter)
n.939+360C>G
c.455C>G (p.Ser152Ter)
c.935C>G (p.Ser312Ter)
c.980C>G (p.Ser327Ter)
c.812C>G (p.Ser271Ter)
c.1103C>G (p.Ser368Ter)
c.1080+32C>G (n.1080+32C>G)
4g.154569667C>TCA358515158FGBc.1112C>T (p.Ser371Leu)
n.939+360C>T
c.455C>T (p.Ser152Leu)
c.935C>T (p.Ser312Leu)
c.980C>T (p.Ser327Leu)
c.812C>T (p.Ser271Leu)
c.1103C>T (p.Ser368Leu)
c.1080+32C>T (n.1080+32C>T)
 COSMIC
4g.154569668A=CA1504935436FGBc.1113A= (p.Ser371=)
n.939+361A=
c.456A= (p.Ser152=)
c.936A= (p.Ser312=)
c.981A= (p.Ser327=)
c.813A= (p.Ser271=)
c.1104A= (p.Ser368=)
c.1080+33A= (n.1080+33A=)
4g.154569668A>CCA442013413FGBc.1113A>C (p.Ser371=)
n.939+361A>C
c.456A>C (p.Ser152=)
c.936A>C (p.Ser312=)
c.981A>C (p.Ser327=)
c.813A>C (p.Ser271=)
c.1104A>C (p.Ser368=)
c.1080+33A>C (n.1080+33A>C)
4g.154569668A>GCA3114721FGBc.1113A>G (p.Ser371=)
n.939+361A>G
c.456A>G (p.Ser152=)
c.936A>G (p.Ser312=)
c.981A>G (p.Ser327=)
c.813A>G (p.Ser271=)
c.1104A>G (p.Ser368=)
c.1080+33A>G (n.1080+33A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569668A>TCA442013414FGBc.1113A>T (p.Ser371=)
n.939+361A>T
c.456A>T (p.Ser152=)
c.936A>T (p.Ser312=)
c.981A>T (p.Ser327=)
c.813A>T (p.Ser271=)
c.1104A>T (p.Ser368=)
c.1080+33A>T (n.1080+33A>T)
 gnomAD v4
4g.154569668_154569669delCA2672441406FGBc.1113_1114del (p.Val372GlufsTer9)
n.939+361_939+362del
c.456_457del (p.Val153GlufsTer9)
c.936_937del (p.Val313GlufsTer9)
c.981_982del (p.Val328GlufsTer9)
c.813_814del (p.Val272GlufsTer9)
c.1104_1105del (p.Val369GlufsTer9)
c.1080+33_1080+34del (n.1080+33_1080+34del)
 gnomAD v4
4g.154569669G>ACA108751677FGBc.1114G>A (p.Val372Met)
n.939+362G>A
c.457G>A (p.Val153Met)
c.937G>A (p.Val313Met)
c.982G>A (p.Val328Met)
c.814G>A (p.Val272Met)
c.1105G>A (p.Val369Met)
c.1080+34G>A (n.1080+34G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569669G>CCA358515163FGBc.1114G>C (p.Val372Leu)
n.939+362G>C
c.457G>C (p.Val153Leu)
c.937G>C (p.Val313Leu)
c.982G>C (p.Val328Leu)
c.814G>C (p.Val272Leu)
c.1105G>C (p.Val369Leu)
c.1080+34G>C (n.1080+34G>C)
4g.154569669G=CA1504935441FGBc.1114G= (p.Val372=)
n.939+362G=
c.457G= (p.Val153=)
c.937G= (p.Val313=)
c.982G= (p.Val328=)
c.814G= (p.Val272=)
c.1105G= (p.Val369=)
c.1080+34G= (n.1080+34G=)
4g.154569669G>TCA358515161FGBc.1114G>T (p.Val372Leu)
n.939+362G>T
c.457G>T (p.Val153Leu)
c.937G>T (p.Val313Leu)
c.982G>T (p.Val328Leu)
c.814G>T (p.Val272Leu)
c.1105G>T (p.Val369Leu)
c.1080+34G>T (n.1080+34G>T)
4g.154569670T>ACA358515164FGBc.1115T>A (p.Val372Glu)
n.939+363T>A
c.458T>A (p.Val153Glu)
c.938T>A (p.Val313Glu)
c.983T>A (p.Val328Glu)
c.815T>A (p.Val272Glu)
c.1106T>A (p.Val369Glu)
c.1080+35T>A (n.1080+35T>A)
4g.154569670T>CCA358515166FGBc.1115T>C (p.Val372Ala)
n.939+363T>C
c.458T>C (p.Val153Ala)
c.938T>C (p.Val313Ala)
c.983T>C (p.Val328Ala)
c.815T>C (p.Val272Ala)
c.1106T>C (p.Val369Ala)
c.1080+35T>C (n.1080+35T>C)
4g.154569670T>GCA358515167FGBc.1115T>G (p.Val372Gly)
n.939+363T>G
c.458T>G (p.Val153Gly)
c.938T>G (p.Val313Gly)
c.983T>G (p.Val328Gly)
c.815T>G (p.Val272Gly)
c.1106T>G (p.Val369Gly)
c.1080+35T>G (n.1080+35T>G)
4g.154569671G>ACA442013416FGBc.1116G>A (p.Val372=)
n.939+364G>A
c.459G>A (p.Val153=)
c.939G>A (p.Val313=)
c.984G>A (p.Val328=)
c.816G>A (p.Val272=)
c.1107G>A (p.Val369=)
c.1080+36G>A (n.1080+36G>A)
4g.154569671G>CCA442013417FGBc.1116G>C (p.Val372=)
n.939+364G>C
c.459G>C (p.Val153=)
c.939G>C (p.Val313=)
c.984G>C (p.Val328=)
c.816G>C (p.Val272=)
c.1107G>C (p.Val369=)
c.1080+36G>C (n.1080+36G>C)
4g.154569671G>TCA442013418FGBc.1116G>T (p.Val372=)
n.939+364G>T
c.459G>T (p.Val153=)
c.939G>T (p.Val313=)
c.984G>T (p.Val328=)
c.816G>T (p.Val272=)
c.1107G>T (p.Val369=)
c.1080+36G>T (n.1080+36G>T)
4g.154569672A=CA1504935449FGBc.1117A= (p.Asn373=)
n.939+365A=
c.460A= (p.Asn154=)
c.940A= (p.Asn314=)
c.985A= (p.Asn329=)
c.817A= (p.Asn273=)
c.1108A= (p.Asn370=)
c.1080+37A= (n.1080+37A=)
4g.154569672A>CCA358515169FGBc.1117A>C (p.Asn373His)
n.939+365A>C
c.460A>C (p.Asn154His)
c.940A>C (p.Asn314His)
c.985A>C (p.Asn329His)
c.817A>C (p.Asn273His)
c.1108A>C (p.Asn370His)
c.1080+37A>C (n.1080+37A>C)
4g.154569672A>GCA358515170FGBc.1117A>G (p.Asn373Asp)
n.939+365A>G
c.460A>G (p.Asn154Asp)
c.940A>G (p.Asn314Asp)
c.985A>G (p.Asn329Asp)
c.817A>G (p.Asn273Asp)
c.1108A>G (p.Asn370Asp)
c.1080+37A>G (n.1080+37A>G)
4g.154569672A>TCA3114722FGBc.1117A>T (p.Asn373Tyr)
n.939+365A>T
c.460A>T (p.Asn154Tyr)
c.940A>T (p.Asn314Tyr)
c.985A>T (p.Asn329Tyr)
c.817A>T (p.Asn273Tyr)
c.1108A>T (p.Asn370Tyr)
c.1080+37A>T (n.1080+37A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569673A=CA1504935453FGBc.1118A= (p.Asn373=)
n.939+366A=
c.461A= (p.Asn154=)
c.941A= (p.Asn314=)
c.986A= (p.Asn329=)
c.818A= (p.Asn273=)
c.1109A= (p.Asn370=)
c.1080+38A= (n.1080+38A=)
4g.154569673A>CCA358515176FGBc.1118A>C (p.Asn373Thr)
n.939+366A>C
c.461A>C (p.Asn154Thr)
c.941A>C (p.Asn314Thr)
c.986A>C (p.Asn329Thr)
c.818A>C (p.Asn273Thr)
c.1109A>C (p.Asn370Thr)
c.1080+38A>C (n.1080+38A>C)
4g.154569673A>GCA358515173FGBc.1118A>G (p.Asn373Ser)
n.939+366A>G
c.461A>G (p.Asn154Ser)
c.941A>G (p.Asn314Ser)
c.986A>G (p.Asn329Ser)
c.818A>G (p.Asn273Ser)
c.1109A>G (p.Asn370Ser)
c.1080+38A>G (n.1080+38A>G)
 dbSNP gnomAD v3 gnomAD v4
4g.154569673A>TCA358515174FGBc.1118A>T (p.Asn373Ile)
n.939+366A>T
c.461A>T (p.Asn154Ile)
c.941A>T (p.Asn314Ile)
c.986A>T (p.Asn329Ile)
c.818A>T (p.Asn273Ile)
c.1109A>T (p.Asn370Ile)
c.1080+38A>T (n.1080+38A>T)
4g.154569674C>ACA358515178FGBc.1119C>A (p.Asn373Lys)
n.939+367C>A
c.462C>A (p.Asn154Lys)
c.942C>A (p.Asn314Lys)
c.987C>A (p.Asn329Lys)
c.819C>A (p.Asn273Lys)
c.1110C>A (p.Asn370Lys)
c.1080+39C>A (n.1080+39C>A)
4g.154569674C>GCA358515179FGBc.1119C>G (p.Asn373Lys)
n.939+367C>G
c.462C>G (p.Asn154Lys)
c.942C>G (p.Asn314Lys)
c.987C>G (p.Asn329Lys)
c.819C>G (p.Asn273Lys)
c.1110C>G (p.Asn370Lys)
c.1080+39C>G (n.1080+39C>G)
4g.154569674C>TCA442013423FGBc.1119C>T (p.Asn373=)
n.939+367C>T
c.462C>T (p.Asn154=)
c.942C>T (p.Asn314=)
c.987C>T (p.Asn329=)
c.819C>T (p.Asn273=)
c.1110C>T (p.Asn370=)
c.1080+39C>T (n.1080+39C>T)
4g.154569675A>CCA358515181FGBc.1120A>C (p.Lys374Gln)
n.939+368A>C
c.463A>C (p.Lys155Gln)
c.943A>C (p.Lys315Gln)
c.988A>C (p.Lys330Gln)
c.820A>C (p.Lys274Gln)
c.1111A>C (p.Lys371Gln)
c.1080+40A>C (n.1080+40A>C)
4g.154569675A>GCA358515183FGBc.1120A>G (p.Lys374Glu)
n.939+368A>G
c.463A>G (p.Lys155Glu)
c.943A>G (p.Lys315Glu)
c.988A>G (p.Lys330Glu)
c.820A>G (p.Lys274Glu)
c.1111A>G (p.Lys371Glu)
c.1080+40A>G (n.1080+40A>G)
4g.154569675A>TCA358515185FGBc.1120A>T (p.Lys374Ter)
n.939+368A>T
c.463A>T (p.Lys155Ter)
c.943A>T (p.Lys315Ter)
c.988A>T (p.Lys330Ter)
c.820A>T (p.Lys274Ter)
c.1111A>T (p.Lys371Ter)
c.1080+40A>T (n.1080+40A>T)
4g.154569676A=CA1504935456FGBc.1121A= (p.Lys374=)
n.939+369A=
c.464A= (p.Lys155=)
c.944A= (p.Lys315=)
c.989A= (p.Lys330=)
c.821A= (p.Lys274=)
c.1112A= (p.Lys371=)
c.1080+41A= (n.1080+41A=)
4g.154569676A>CCA3114723FGBc.1121A>C (p.Lys374Thr)
n.939+369A>C
c.464A>C (p.Lys155Thr)
c.944A>C (p.Lys315Thr)
c.989A>C (p.Lys330Thr)
c.821A>C (p.Lys274Thr)
c.1112A>C (p.Lys371Thr)
c.1080+41A>C (n.1080+41A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569676A>GCA358515186FGBc.1121A>G (p.Lys374Arg)
n.939+369A>G
c.464A>G (p.Lys155Arg)
c.944A>G (p.Lys315Arg)
c.989A>G (p.Lys330Arg)
c.821A>G (p.Lys274Arg)
c.1112A>G (p.Lys371Arg)
c.1080+41A>G (n.1080+41A>G)
 dbSNP gnomAD v4
4g.154569676A>TCA358515188FGBc.1121A>T (p.Lys374Ile)
n.939+369A>T
c.464A>T (p.Lys155Ile)
c.944A>T (p.Lys315Ile)
c.989A>T (p.Lys330Ile)
c.821A>T (p.Lys274Ile)
c.1112A>T (p.Lys371Ile)
c.1080+41A>T (n.1080+41A>T)
4g.154569677A>CCA358515191FGBc.1122A>C (p.Lys374Asn)
n.939+370A>C
c.465A>C (p.Lys155Asn)
c.945A>C (p.Lys315Asn)
c.990A>C (p.Lys330Asn)
c.822A>C (p.Lys274Asn)
c.1113A>C (p.Lys371Asn)
c.1080+42A>C (n.1080+42A>C)
4g.154569677A>GCA442013429FGBc.1122A>G (p.Lys374=)
n.939+370A>G
c.465A>G (p.Lys155=)
c.945A>G (p.Lys315=)
c.990A>G (p.Lys330=)
c.822A>G (p.Lys274=)
c.1113A>G (p.Lys371=)
c.1080+42A>G (n.1080+42A>G)
4g.154569677A>TCA358515192FGBc.1122A>T (p.Lys374Asn)
n.939+370A>T
c.465A>T (p.Lys155Asn)
c.945A>T (p.Lys315Asn)
c.990A>T (p.Lys330Asn)
c.822A>T (p.Lys274Asn)
c.1113A>T (p.Lys371Asn)
c.1080+42A>T (n.1080+42A>T)
4g.154569678T>ACA358515194FGBc.1123T>A (p.Tyr375Asn)
n.939+371T>A
c.466T>A (p.Tyr156Asn)
c.946T>A (p.Tyr316Asn)
c.991T>A (p.Tyr331Asn)
c.823T>A (p.Tyr275Asn)
c.1114T>A (p.Tyr372Asn)
c.1080+43T>A (n.1080+43T>A)
4g.154569678T>CCA358515195FGBc.1123T>C (p.Tyr375His)
n.939+371T>C
c.466T>C (p.Tyr156His)
c.946T>C (p.Tyr316His)
c.991T>C (p.Tyr331His)
c.823T>C (p.Tyr275His)
c.1114T>C (p.Tyr372His)
c.1080+43T>C (n.1080+43T>C)
4g.154569678T>GCA358515197FGBc.1123T>G (p.Tyr375Asp)
n.939+371T>G
c.466T>G (p.Tyr156Asp)
c.946T>G (p.Tyr316Asp)
c.991T>G (p.Tyr331Asp)
c.823T>G (p.Tyr275Asp)
c.1114T>G (p.Tyr372Asp)
c.1080+43T>G (n.1080+43T>G)
4g.154569679A=CA1504935460FGBc.1124A= (p.Tyr375=)
n.939+372A=
c.467A= (p.Tyr156=)
c.947A= (p.Tyr316=)
c.992A= (p.Tyr331=)
c.824A= (p.Tyr275=)
c.1115A= (p.Tyr372=)
c.1080+44A= (n.1080+44A=)
4g.154569679A>CCA358515199FGBc.1124A>C (p.Tyr375Ser)
n.939+372A>C
c.467A>C (p.Tyr156Ser)
c.947A>C (p.Tyr316Ser)
c.992A>C (p.Tyr331Ser)
c.824A>C (p.Tyr275Ser)
c.1115A>C (p.Tyr372Ser)
c.1080+44A>C (n.1080+44A>C)
4g.154569679A>GCA358515201FGBc.1124A>G (p.Tyr375Cys)
n.939+372A>G
c.467A>G (p.Tyr156Cys)
c.947A>G (p.Tyr316Cys)
c.992A>G (p.Tyr331Cys)
c.824A>G (p.Tyr275Cys)
c.1115A>G (p.Tyr372Cys)
c.1080+44A>G (n.1080+44A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
4g.154569679A>TCA358515203FGBc.1124A>T (p.Tyr375Phe)
n.939+372A>T
c.467A>T (p.Tyr156Phe)
c.947A>T (p.Tyr316Phe)
c.992A>T (p.Tyr331Phe)
c.824A>T (p.Tyr275Phe)
c.1115A>T (p.Tyr372Phe)
c.1080+44A>T (n.1080+44A>T)
4g.154569680C>ACA358515204FGBc.1125C>A (p.Tyr375Ter)
n.939+373C>A
c.468C>A (p.Tyr156Ter)
c.948C>A (p.Tyr316Ter)
c.993C>A (p.Tyr331Ter)
c.825C>A (p.Tyr275Ter)
c.1116C>A (p.Tyr372Ter)
c.1080+45C>A (n.1080+45C>A)
4g.154569680C=CA1504935470FGBc.1125C= (p.Tyr375=)
n.939+373C=
c.468C= (p.Tyr156=)
c.948C= (p.Tyr316=)
c.993C= (p.Tyr331=)
c.825C= (p.Tyr275=)
c.1116C= (p.Tyr372=)
c.1080+45C= (n.1080+45C=)
4g.154569680C>GCA358515205FGBc.1125C>G (p.Tyr375Ter)
n.939+373C>G
c.468C>G (p.Tyr156Ter)
c.948C>G (p.Tyr316Ter)
c.993C>G (p.Tyr331Ter)
c.825C>G (p.Tyr275Ter)
c.1116C>G (p.Tyr372Ter)
c.1080+45C>G (n.1080+45C>G)
4g.154569680C>TCA3114724FGBc.1125C>T (p.Tyr375=)
n.939+373C>T
c.468C>T (p.Tyr156=)
c.948C>T (p.Tyr316=)
c.993C>T (p.Tyr331=)
c.825C>T (p.Tyr275=)
c.1116C>T (p.Tyr372=)
c.1080+45C>T (n.1080+45C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569681A=CA1504935477FGBc.1126A= (p.Arg376=)
n.939+374A=
c.469A= (p.Arg157=)
c.949A= (p.Arg317=)
c.994A= (p.Arg332=)
c.826A= (p.Arg276=)
c.1117A= (p.Arg373=)
c.1080+46A= (n.1080+46A=)
4g.154569681A>CCA442013437FGBc.1126A>C (p.Arg376=)
n.939+374A>C
c.469A>C (p.Arg157=)
c.949A>C (p.Arg317=)
c.994A>C (p.Arg332=)
c.826A>C (p.Arg276=)
c.1117A>C (p.Arg373=)
c.1080+46A>C (n.1080+46A>C)
4g.154569681A>GCA358515206FGBc.1126A>G (p.Arg376Gly)
n.939+374A>G
c.469A>G (p.Arg157Gly)
c.949A>G (p.Arg317Gly)
c.994A>G (p.Arg332Gly)
c.826A>G (p.Arg276Gly)
c.1117A>G (p.Arg373Gly)
c.1080+46A>G (n.1080+46A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.154569681A>TCA358515208FGBc.1126A>T (p.Arg376Ter)
n.939+374A>T
c.469A>T (p.Arg157Ter)
c.949A>T (p.Arg317Ter)
c.994A>T (p.Arg332Ter)
c.826A>T (p.Arg276Ter)
c.1117A>T (p.Arg373Ter)
c.1080+46A>T (n.1080+46A>T)
4g.154569682G>ACA358515209FGBc.1127G>A (p.Arg376Lys)
n.939+375G>A
c.470G>A (p.Arg157Lys)
c.950G>A (p.Arg317Lys)
c.995G>A (p.Arg332Lys)
c.827G>A (p.Arg276Lys)
c.1118G>A (p.Arg373Lys)
c.1080+47G>A (n.1080+47G>A)
 dbSNP gnomAD v4
4g.154569682G>CCA358515211FGBc.1127G>C (p.Arg376Thr)
n.939+375G>C
c.470G>C (p.Arg157Thr)
c.950G>C (p.Arg317Thr)
c.995G>C (p.Arg332Thr)
c.827G>C (p.Arg276Thr)
c.1118G>C (p.Arg373Thr)
c.1080+47G>C (n.1080+47G>C)
4g.154569682G=CA1504935480FGBc.1127G= (p.Arg376=)
n.939+375G=
c.470G= (p.Arg157=)
c.950G= (p.Arg317=)
c.995G= (p.Arg332=)
c.827G= (p.Arg276=)
c.1118G= (p.Arg373=)
c.1080+47G= (n.1080+47G=)
4g.154569682G>TCA358515210FGBc.1127G>T (p.Arg376Ile)
n.939+375G>T
c.470G>T (p.Arg157Ile)
c.950G>T (p.Arg317Ile)
c.995G>T (p.Arg332Ile)
c.827G>T (p.Arg276Ile)
c.1118G>T (p.Arg373Ile)
c.1080+47G>T (n.1080+47G>T)
4g.154569683A=CA1504935482FGBc.1128A= (p.Arg376=)
n.939+376A=
c.471A= (p.Arg157=)
c.951A= (p.Arg317=)
c.996A= (p.Arg332=)
c.828A= (p.Arg276=)
c.1119A= (p.Arg373=)
c.1080+48A= (n.1080+48A=)
4g.154569683A>CCA358515212FGBc.1128A>C (p.Arg376Ser)
n.939+376A>C
c.471A>C (p.Arg157Ser)
c.951A>C (p.Arg317Ser)
c.996A>C (p.Arg332Ser)
c.828A>C (p.Arg276Ser)
c.1119A>C (p.Arg373Ser)
c.1080+48A>C (n.1080+48A>C)
4g.154569683A>GCA3114725FGBc.1128A>G (p.Arg376=)
n.939+376A>G
c.471A>G (p.Arg157=)
c.951A>G (p.Arg317=)
c.996A>G (p.Arg332=)
c.828A>G (p.Arg276=)
c.1119A>G (p.Arg373=)
c.1080+48A>G (n.1080+48A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569683A>TCA358515214FGBc.1128A>T (p.Arg376Ser)
n.939+376A>T
c.471A>T (p.Arg157Ser)
c.951A>T (p.Arg317Ser)
c.996A>T (p.Arg332Ser)
c.828A>T (p.Arg276Ser)
c.1119A>T (p.Arg373Ser)
c.1080+48A>T (n.1080+48A>T)
4g.154569684G>ACA358515216FGBc.1129G>A (p.Gly377Arg)
n.939+377G>A
c.472G>A (p.Gly158Arg)
c.952G>A (p.Gly318Arg)
c.997G>A (p.Gly333Arg)
c.829G>A (p.Gly277Arg)
c.1120G>A (p.Gly374Arg)
c.1080+49G>A (n.1080+49G>A)
 gnomAD v4
4g.154569684G>CCA358515217FGBc.1129G>C (p.Gly377Arg)
n.939+377G>C
c.472G>C (p.Gly158Arg)
c.952G>C (p.Gly318Arg)
c.997G>C (p.Gly333Arg)
c.829G>C (p.Gly277Arg)
c.1120G>C (p.Gly374Arg)
c.1080+49G>C (n.1080+49G>C)
 gnomAD v4
4g.154569684G>TCA358515219FGBc.1129G>T (p.Gly377Ter)
n.939+377G>T
c.472G>T (p.Gly158Ter)
c.952G>T (p.Gly318Ter)
c.997G>T (p.Gly333Ter)
c.829G>T (p.Gly277Ter)
c.1120G>T (p.Gly374Ter)
c.1080+49G>T (n.1080+49G>T)
4g.154569685G>ACA358515221FGBc.1130G>A (p.Gly377Glu)
n.939+378G>A
c.473G>A (p.Gly158Glu)
c.953G>A (p.Gly318Glu)
c.998G>A (p.Gly333Glu)
c.830G>A (p.Gly277Glu)
c.1121G>A (p.Gly374Glu)
c.1080+50G>A (n.1080+50G>A)
4g.154569685G>CCA358515223FGBc.1130G>C (p.Gly377Ala)
n.939+378G>C
c.473G>C (p.Gly158Ala)
c.953G>C (p.Gly318Ala)
c.998G>C (p.Gly333Ala)
c.830G>C (p.Gly277Ala)
c.1121G>C (p.Gly374Ala)
c.1080+50G>C (n.1080+50G>C)
4g.154569685G>TCA358515224FGBc.1130G>T (p.Gly377Val)
n.939+378G>T
c.473G>T (p.Gly158Val)
c.953G>T (p.Gly318Val)
c.998G>T (p.Gly333Val)
c.830G>T (p.Gly277Val)
c.1121G>T (p.Gly374Val)
c.1080+50G>T (n.1080+50G>T)
4g.154569686A=CA1504935485FGBc.1131A= (p.Gly377=)
n.939+379A=
c.474A= (p.Gly158=)
c.954A= (p.Gly318=)
c.999A= (p.Gly333=)
c.831A= (p.Gly277=)
c.1122A= (p.Gly374=)
c.1080+51A= (n.1080+51A=)
4g.154569686A>CCA442013445FGBc.1131A>C (p.Gly377=)
n.939+379A>C
c.474A>C (p.Gly158=)
c.954A>C (p.Gly318=)
c.999A>C (p.Gly333=)
c.831A>C (p.Gly277=)
c.1122A>C (p.Gly374=)
c.1080+51A>C (n.1080+51A>C)
4g.154569686A>GCA442013446FGBc.1131A>G (p.Gly377=)
n.939+379A>G
c.474A>G (p.Gly158=)
c.954A>G (p.Gly318=)
c.999A>G (p.Gly333=)
c.831A>G (p.Gly277=)
c.1122A>G (p.Gly374=)
c.1080+51A>G (n.1080+51A>G)
 dbSNP
4g.154569686A>TCA442013448FGBc.1131A>T (p.Gly377=)
n.939+379A>T
c.474A>T (p.Gly158=)
c.954A>T (p.Gly318=)
c.999A>T (p.Gly333=)
c.831A>T (p.Gly277=)
c.1122A>T (p.Gly374=)
c.1080+51A>T (n.1080+51A>T)
4g.154569687A=CA1504935489FGBc.1132A= (p.Thr378=)
n.939+380A=
c.475A= (p.Thr159=)
c.955A= (p.Thr319=)
c.1000A= (p.Thr334=)
c.832A= (p.Thr278=)
c.1123A= (p.Thr375=)
c.1080+52A= (n.1080+52A=)
4g.154569687A>CCA3114726FGBc.1132A>C (p.Thr378Pro)
n.939+380A>C
c.475A>C (p.Thr159Pro)
c.955A>C (p.Thr319Pro)
c.1000A>C (p.Thr334Pro)
c.832A>C (p.Thr278Pro)
c.1123A>C (p.Thr375Pro)
c.1080+52A>C (n.1080+52A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569687A>GCA358515227FGBc.1132A>G (p.Thr378Ala)
n.939+380A>G
c.475A>G (p.Thr159Ala)
c.955A>G (p.Thr319Ala)
c.1000A>G (p.Thr334Ala)
c.832A>G (p.Thr278Ala)
c.1123A>G (p.Thr375Ala)
c.1080+52A>G (n.1080+52A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569687A>TCA358515228FGBc.1132A>T (p.Thr378Ser)
n.939+380A>T
c.475A>T (p.Thr159Ser)
c.955A>T (p.Thr319Ser)
c.1000A>T (p.Thr334Ser)
c.832A>T (p.Thr278Ser)
c.1123A>T (p.Thr375Ser)
c.1080+52A>T (n.1080+52A>T)
4g.154569688C>ACA358515234FGBc.1133C>A (p.Thr378Lys)
n.939+381C>A
c.476C>A (p.Thr159Lys)
c.956C>A (p.Thr319Lys)
c.1001C>A (p.Thr334Lys)
c.833C>A (p.Thr278Lys)
c.1124C>A (p.Thr375Lys)
c.1080+53C>A (n.1080+53C>A)
4g.154569688C>GCA358515233FGBc.1133C>G (p.Thr378Arg)
n.939+381C>G
c.476C>G (p.Thr159Arg)
c.956C>G (p.Thr319Arg)
c.1001C>G (p.Thr334Arg)
c.833C>G (p.Thr278Arg)
c.1124C>G (p.Thr375Arg)
c.1080+53C>G (n.1080+53C>G)
4g.154569688C>TCA358515231FGBc.1133C>T (p.Thr378Ile)
n.939+381C>T
c.476C>T (p.Thr159Ile)
c.956C>T (p.Thr319Ile)
c.1001C>T (p.Thr334Ile)
c.833C>T (p.Thr278Ile)
c.1124C>T (p.Thr375Ile)
c.1080+53C>T (n.1080+53C>T)
 ClinVar gnomAD v4
4g.154569689A=CA1504935494FGBc.1134A= (p.Thr378=)
n.939+382A=
c.477A= (p.Thr159=)
c.957A= (p.Thr319=)
c.1002A= (p.Thr334=)
c.834A= (p.Thr278=)
c.1125A= (p.Thr375=)
c.1080+54A= (n.1080+54A=)
4g.154569689A>CCA442013453FGBc.1134A>C (p.Thr378=)
n.939+382A>C
c.477A>C (p.Thr159=)
c.957A>C (p.Thr319=)
c.1002A>C (p.Thr334=)
c.834A>C (p.Thr278=)
c.1125A>C (p.Thr375=)
c.1080+54A>C (n.1080+54A>C)
4g.154569689A>GCA442013454FGBc.1134A>G (p.Thr378=)
n.939+382A>G
c.477A>G (p.Thr159=)
c.957A>G (p.Thr319=)
c.1002A>G (p.Thr334=)
c.834A>G (p.Thr278=)
c.1125A>G (p.Thr375=)
c.1080+54A>G (n.1080+54A>G)
 dbSNP
4g.154569689A>TCA442013456FGBc.1134A>T (p.Thr378=)
n.939+382A>T
c.477A>T (p.Thr159=)
c.957A>T (p.Thr319=)
c.1002A>T (p.Thr334=)
c.834A>T (p.Thr278=)
c.1125A>T (p.Thr375=)
c.1080+54A>T (n.1080+54A>T)
4g.154569690G>ACA358515237FGBc.1135G>A (p.Ala379Thr)
n.939+383G>A
c.478G>A (p.Ala160Thr)
c.958G>A (p.Ala320Thr)
c.1003G>A (p.Ala335Thr)
c.835G>A (p.Ala279Thr)
c.1126G>A (p.Ala376Thr)
c.1080+55G>A (n.1080+55G>A)
 gnomAD v4
4g.154569690G>CCA358515238FGBc.1135G>C (p.Ala379Pro)
n.939+383G>C
c.478G>C (p.Ala160Pro)
c.958G>C (p.Ala320Pro)
c.1003G>C (p.Ala335Pro)
c.835G>C (p.Ala279Pro)
c.1126G>C (p.Ala376Pro)
c.1080+55G>C (n.1080+55G>C)
4g.154569690G>TCA358515239FGBc.1135G>T (p.Ala379Ser)
n.939+383G>T
c.478G>T (p.Ala160Ser)
c.958G>T (p.Ala320Ser)
c.1003G>T (p.Ala335Ser)
c.835G>T (p.Ala279Ser)
c.1126G>T (p.Ala376Ser)
c.1080+55G>T (n.1080+55G>T)
4g.154569691C>ACA358515241FGBc.1136C>A (p.Ala379Asp)
n.939+384C>A
c.479C>A (p.Ala160Asp)
c.959C>A (p.Ala320Asp)
c.1004C>A (p.Ala335Asp)
c.836C>A (p.Ala279Asp)
c.1127C>A (p.Ala376Asp)
c.1080+56C>A (n.1080+56C>A)
4g.154569691C>GCA358515242FGBc.1136C>G (p.Ala379Gly)
n.939+384C>G
c.479C>G (p.Ala160Gly)
c.959C>G (p.Ala320Gly)
c.1004C>G (p.Ala335Gly)
c.836C>G (p.Ala279Gly)
c.1127C>G (p.Ala376Gly)
c.1080+56C>G (n.1080+56C>G)
4g.154569691C>TCA358515243FGBc.1136C>T (p.Ala379Val)
n.939+384C>T
c.479C>T (p.Ala160Val)
c.959C>T (p.Ala320Val)
c.1004C>T (p.Ala335Val)
c.836C>T (p.Ala279Val)
c.1127C>T (p.Ala376Val)
c.1080+56C>T (n.1080+56C>T)
4g.154569692C>ACA442013459FGBc.1137C>A (p.Ala379=)
n.939+385C>A
c.480C>A (p.Ala160=)
c.960C>A (p.Ala320=)
c.1005C>A (p.Ala335=)
c.837C>A (p.Ala279=)
c.1128C>A (p.Ala376=)
c.1080+57C>A (n.1080+57C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.154569692C=CA1504935498FGBc.1137C= (p.Ala379=)
n.939+385C=
c.480C= (p.Ala160=)
c.960C= (p.Ala320=)
c.1005C= (p.Ala335=)
c.837C= (p.Ala279=)
c.1128C= (p.Ala376=)
c.1080+57C= (n.1080+57C=)
4g.154569692C>GCA442013461FGBc.1137C>G (p.Ala379=)
n.939+385C>G
c.480C>G (p.Ala160=)
c.960C>G (p.Ala320=)
c.1005C>G (p.Ala335=)
c.837C>G (p.Ala279=)
c.1128C>G (p.Ala376=)
c.1080+57C>G (n.1080+57C>G)
4g.154569692C>TCA3114727FGBc.1137C>T (p.Ala379=)
n.939+385C>T
c.480C>T (p.Ala160=)
c.960C>T (p.Ala320=)
c.1005C>T (p.Ala335=)
c.837C>T (p.Ala279=)
c.1128C>T (p.Ala376=)
c.1080+57C>T (n.1080+57C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.154569693G>ACA3114728FGBc.1138G>A (p.Gly380Ser)
n.939+386G>A
c.481G>A (p.Gly161Ser)
c.961G>A (p.Gly321Ser)
c.1006G>A (p.Gly336Ser)
c.838G>A (p.Gly280Ser)
c.1129G>A (p.Gly377Ser)
c.1080+58G>A (n.1080+58G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.154569693G>CCA358515247FGBc.1138G>C (p.Gly380Arg)
n.939+386G>C
c.481G>C (p.Gly161Arg)
c.961G>C (p.Gly321Arg)
c.1006G>C (p.Gly336Arg)
c.838G>C (p.Gly280Arg)
c.1129G>C (p.Gly377Arg)
c.1080+58G>C (n.1080+58G>C)
4g.154569693G=CA1504935504FGBc.1138G= (p.Gly380=)
n.939+386G=
c.481G= (p.Gly161=)
c.961G= (p.Gly321=)
c.1006G= (p.Gly336=)
c.838G= (p.Gly280=)
c.1129G= (p.Gly377=)
c.1080+58G= (n.1080+58G=)
4g.154569693G>TCA358515248FGBc.1138G>T (p.Gly380Cys)
n.939+386G>T
c.481G>T (p.Gly161Cys)
c.961G>T (p.Gly321Cys)
c.1006G>T (p.Gly336Cys)
c.838G>T (p.Gly280Cys)
c.1129G>T (p.Gly377Cys)
c.1080+58G>T (n.1080+58G>T)
4g.154569694G>ACA358515250FGBc.1139G>A (p.Gly380Asp)
n.939+387G>A
c.482G>A (p.Gly161Asp)
c.962G>A (p.Gly321Asp)
c.1007G>A (p.Gly336Asp)
c.839G>A (p.Gly280Asp)
c.1130G>A (p.Gly377Asp)
c.1080+59G>A (n.1080+59G>A)
4g.154569694G>CCA358515252FGBc.1139G>C (p.Gly380Ala)
n.939+387G>C
c.482G>C (p.Gly161Ala)
c.962G>C (p.Gly321Ala)
c.1007G>C (p.Gly336Ala)
c.839G>C (p.Gly280Ala)
c.1130G>C (p.Gly377Ala)
c.1080+59G>C (n.1080+59G>C)
4g.154569694G>TCA358515254FGBc.1139G>T (p.Gly380Val)
n.939+387G>T
c.482G>T (p.Gly161Val)
c.962G>T (p.Gly321Val)
c.1007G>T (p.Gly336Val)
c.839G>T (p.Gly280Val)
c.1130G>T (p.Gly377Val)
c.1080+59G>T (n.1080+59G>T)
4g.154569695T>ACA442013467FGBc.1140T>A (p.Gly380=)
n.939+388T>A
c.483T>A (p.Gly161=)
c.963T>A (p.Gly321=)
c.1008T>A (p.Gly336=)
c.840T>A (p.Gly280=)
c.1131T>A (p.Gly377=)
c.1080+60T>A (n.1080+60T>A)
4g.154569695T>CCA108751698FGBc.1140T>C (p.Gly380=)
n.939+388T>C
c.483T>C (p.Gly161=)
c.963T>C (p.Gly321=)
c.1008T>C (p.Gly336=)
c.840T>C (p.Gly280=)
c.1131T>C (p.Gly377=)
c.1080+60T>C (n.1080+60T>C)
 dbSNP
4g.154569695T>GCA442013468FGBc.1140T>G (p.Gly380=)
n.939+388T>G
c.483T>G (p.Gly161=)
c.963T>G (p.Gly321=)
c.1008T>G (p.Gly336=)
c.840T>G (p.Gly280=)
c.1131T>G (p.Gly377=)
c.1080+60T>G (n.1080+60T>G)
4g.154569695T=CA1504935506FGBc.1140T= (p.Gly380=)
n.939+388T=
c.483T= (p.Gly161=)
c.963T= (p.Gly321=)
c.1008T= (p.Gly336=)
c.840T= (p.Gly280=)
c.1131T= (p.Gly377=)
c.1080+60T= (n.1080+60T=)
4g.154569696A>CCA358515258FGBc.1141A>C (p.Asn381His)
n.939+389A>C
c.484A>C (p.Asn162His)
c.964A>C (p.Asn322His)
c.1009A>C (p.Asn337His)
c.841A>C (p.Asn281His)
c.1132A>C (p.Asn378His)
c.1080+61A>C (n.1080+61A>C)
4g.154569696A>GCA358515257FGBc.1141A>G (p.Asn381Asp)
n.939+389A>G
c.484A>G (p.Asn162Asp)
c.964A>G (p.Asn322Asp)
c.1009A>G (p.Asn337Asp)
c.841A>G (p.Asn281Asp)
c.1132A>G (p.Asn378Asp)
c.1080+61A>G (n.1080+61A>G)
4g.154569696A>TCA358515260FGBc.1141A>T (p.Asn381Tyr)
n.939+389A>T
c.484A>T (p.Asn162Tyr)
c.964A>T (p.Asn322Tyr)
c.1009A>T (p.Asn337Tyr)
c.841A>T (p.Asn281Tyr)
c.1132A>T (p.Asn378Tyr)
c.1080+61A>T (n.1080+61A>T)
4g.154569697A=CA1504935509FGBc.1142A= (p.Asn381=)
n.939+390A=
c.485A= (p.Asn162=)
c.965A= (p.Asn322=)
c.1010A= (p.Asn337=)
c.842A= (p.Asn281=)
c.1133A= (p.Asn378=)
c.1080+62A= (n.1080+62A=)
4g.154569697A>CCA358515261FGBc.1142A>C (p.Asn381Thr)
n.939+390A>C
c.485A>C (p.Asn162Thr)
c.965A>C (p.Asn322Thr)
c.1010A>C (p.Asn337Thr)
c.842A>C (p.Asn281Thr)
c.1133A>C (p.Asn378Thr)
c.1080+62A>C (n.1080+62A>C)
4g.154569697A>GCA358515265FGBc.1142A>G (p.Asn381Ser)
n.939+390A>G
c.485A>G (p.Asn162Ser)
c.965A>G (p.Asn322Ser)
c.1010A>G (p.Asn337Ser)
c.842A>G (p.Asn281Ser)
c.1133A>G (p.Asn378Ser)
c.1080+62A>G (n.1080+62A>G)
 dbSNP gnomAD v4
4g.154569697A>TCA358515263FGBc.1142A>T (p.Asn381Ile)
n.939+390A>T
c.485A>T (p.Asn162Ile)
c.965A>T (p.Asn322Ile)
c.1010A>T (p.Asn337Ile)
c.842A>T (p.Asn281Ile)
c.1133A>T (p.Asn378Ile)
c.1080+62A>T (n.1080+62A>T)
 gnomAD v4
4g.154569697_154569698insGCTGGCTAATTCA2553182044FGBc.1142_1143insGCTGGCTAATT (p.Asn381LysfsTer14)
n.939+390_939+391insGCTGGCTAATT
c.485_486insGCTGGCTAATT (p.Asn162LysfsTer14)
c.965_966insGCTGGCTAATT (p.Asn322LysfsTer14)
c.1010_1011insGCTGGCTAATT (p.Asn337LysfsTer14)
c.842_843insGCTGGCTAATT (p.Asn281LysfsTer14)
c.1133_1134insGCTGGCTAATT (p.Asn378LysfsTer14)
c.1080+62_1080+63insGCTGGCTAATT (n.1080+62_1080+63insGCTGGCTAATT)
4g.154569698T>ACA358515267FGBc.1143T>A (p.Asn381Lys)
n.939+391T>A
c.486T>A (p.Asn162Lys)
c.966T>A (p.Asn322Lys)
c.1011T>A (p.Asn337Lys)
c.843T>A (p.Asn281Lys)
c.1134T>A (p.Asn378Lys)
c.1080+63T>A (n.1080+63T>A)
 gnomAD v4
4g.154569698T>CCA3114729FGBc.1143T>C (p.Asn381=)
n.939+391T>C
c.486T>C (p.Asn162=)
c.966T>C (p.Asn322=)
c.1011T>C (p.Asn337=)
c.843T>C (p.Asn281=)
c.1134T>C (p.Asn378=)
c.1080+63T>C (n.1080+63T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569698T>GCA358515270FGBc.1143T>G (p.Asn381Lys)
n.939+391T>G
c.486T>G (p.Asn162Lys)
c.966T>G (p.Asn322Lys)
c.1011T>G (p.Asn337Lys)
c.843T>G (p.Asn281Lys)
c.1134T>G (p.Asn378Lys)
c.1080+63T>G (n.1080+63T>G)
4g.154569698T=CA1504935511FGBc.1143T= (p.Asn381=)
n.939+391T=
c.486T= (p.Asn162=)
c.966T= (p.Asn322=)
c.1011T= (p.Asn337=)
c.843T= (p.Asn281=)
c.1134T= (p.Asn378=)
c.1080+63T= (n.1080+63T=)
4g.154569699G>ACA358515273FGBc.1144G>A (p.Ala382Thr)
n.939+392G>A
c.487G>A (p.Ala163Thr)
c.967G>A (p.Ala323Thr)
c.1012G>A (p.Ala338Thr)
c.844G>A (p.Ala282Thr)
c.1135G>A (p.Ala379Thr)
c.1080+64G>A (n.1080+64G>A)
4g.154569699G>CCA358515274FGBc.1144G>C (p.Ala382Pro)
n.939+392G>C
c.487G>C (p.Ala163Pro)
c.967G>C (p.Ala323Pro)
c.1012G>C (p.Ala338Pro)
c.844G>C (p.Ala282Pro)
c.1135G>C (p.Ala379Pro)
c.1080+64G>C (n.1080+64G>C)
4g.154569699G>TCA358515276FGBc.1144G>T (p.Ala382Ser)
n.939+392G>T
c.487G>T (p.Ala163Ser)
c.967G>T (p.Ala323Ser)
c.1012G>T (p.Ala338Ser)
c.844G>T (p.Ala282Ser)
c.1135G>T (p.Ala379Ser)
c.1080+64G>T (n.1080+64G>T)
4g.154569700C>ACA358515277FGBc.1145C>A (p.Ala382Asp)
n.939+393C>A
c.488C>A (p.Ala163Asp)
c.968C>A (p.Ala323Asp)
c.1013C>A (p.Ala338Asp)
c.845C>A (p.Ala282Asp)
c.1136C>A (p.Ala379Asp)
c.1080+65C>A (n.1080+65C>A)
4g.154569700C>GCA358515278FGBc.1145C>G (p.Ala382Gly)
n.939+393C>G
c.488C>G (p.Ala163Gly)
c.968C>G (p.Ala323Gly)
c.1013C>G (p.Ala338Gly)
c.845C>G (p.Ala282Gly)
c.1136C>G (p.Ala379Gly)
c.1080+65C>G (n.1080+65C>G)
4g.154569700C>TCA358515280FGBc.1145C>T (p.Ala382Val)
n.939+393C>T
c.488C>T (p.Ala163Val)
c.968C>T (p.Ala323Val)
c.1013C>T (p.Ala338Val)
c.845C>T (p.Ala282Val)
c.1136C>T (p.Ala379Val)
c.1080+65C>T (n.1080+65C>T)
 COSMIC
4g.154569701C>ACA442013480FGBc.1146C>A (p.Ala382=)
n.939+394C>A
c.489C>A (p.Ala163=)
c.969C>A (p.Ala323=)
c.1014C>A (p.Ala338=)
c.846C>A (p.Ala282=)
c.1137C>A (p.Ala379=)
c.1080+66C>A (n.1080+66C>A)
4g.154569701C=CA1504935513FGBc.1146C= (p.Ala382=)
n.939+394C=
c.489C= (p.Ala163=)
c.969C= (p.Ala323=)
c.1014C= (p.Ala338=)
c.846C= (p.Ala282=)
c.1137C= (p.Ala379=)
c.1080+66C= (n.1080+66C=)
4g.154569701C>GCA442013482FGBc.1146C>G (p.Ala382=)
n.939+394C>G
c.489C>G (p.Ala163=)
c.969C>G (p.Ala323=)
c.1014C>G (p.Ala338=)
c.846C>G (p.Ala282=)
c.1137C>G (p.Ala379=)
c.1080+66C>G (n.1080+66C>G)
4g.154569701C>TCA442013483FGBc.1146C>T (p.Ala382=)
n.939+394C>T
c.489C>T (p.Ala163=)
c.969C>T (p.Ala323=)
c.1014C>T (p.Ala338=)
c.846C>T (p.Ala282=)
c.1137C>T (p.Ala379=)
c.1080+66C>T (n.1080+66C>T)
 dbSNP
4g.154569702C>ACA358515282FGBc.1147C>A (p.Leu383Ile)
n.939+395C>A
c.490C>A (p.Leu164Ile)
c.970C>A (p.Leu324Ile)
c.1015C>A (p.Leu339Ile)
c.847C>A (p.Leu283Ile)
c.1138C>A (p.Leu380Ile)
c.1080+67C>A (n.1080+67C>A)
4g.154569702C=CA1504935514FGBc.1147C= (p.Leu383=)
n.939+395C=
c.490C= (p.Leu164=)
c.970C= (p.Leu324=)
c.1015C= (p.Leu339=)
c.847C= (p.Leu283=)
c.1138C= (p.Leu380=)
c.1080+67C= (n.1080+67C=)
4g.154569702C>GCA3114730FGBc.1147C>G (p.Leu383Val)
n.939+395C>G
c.490C>G (p.Leu164Val)
c.970C>G (p.Leu324Val)
c.1015C>G (p.Leu339Val)
c.847C>G (p.Leu283Val)
c.1138C>G (p.Leu380Val)
c.1080+67C>G (n.1080+67C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.154569702C>TCA358515284FGBc.1147C>T (p.Leu383Phe)
n.939+395C>T
c.490C>T (p.Leu164Phe)
c.970C>T (p.Leu324Phe)
c.1015C>T (p.Leu339Phe)
c.847C>T (p.Leu283Phe)
c.1138C>T (p.Leu380Phe)
c.1080+67C>T (n.1080+67C>T)
4g.154569704_154569724dupCA2672441503FGBc.1149_1169dup (p.Leu390_Met391insMetAspGlyAlaSerGlnLeu)
n.939+397_939+417dup
c.492_512dup (p.Leu171_Met172insMetAspGlyAlaSerGlnLeu)
c.972_992dup (p.Leu331_Met332insMetAspGlyAlaSerGlnLeu)
c.1017_1037dup (p.Leu346_Met347insMetAspGlyAlaSerGlnLeu)
c.849_869dup (p.Leu290_Met291insMetAspGlyAlaSerGlnLeu)
c.1140_1160dup (p.Leu387_Met388insMetAspGlyAlaSerGlnLeu)
c.1081-69_1081-49dup (n.1081-69_1081-49dup)
 gnomAD v4
4g.154569703T>ACA358515287FGBc.1148T>A (p.Leu383His)
n.939+396T>A
c.491T>A (p.Leu164His)
c.971T>A (p.Leu324His)
c.1016T>A (p.Leu339His)
c.848T>A (p.Leu283His)
c.1139T>A (p.Leu380His)
c.1080+68T>A (n.1080+68T>A)
4g.154569703T>CCA358515286FGBc.1148T>C (p.Leu383Pro)
n.939+396T>C
c.491T>C (p.Leu164Pro)
c.971T>C (p.Leu324Pro)
c.1016T>C (p.Leu339Pro)
c.848T>C (p.Leu283Pro)
c.1139T>C (p.Leu380Pro)
c.1080+68T>C (n.1080+68T>C)
4g.154569703T>GCA126442FGBc.1148T>G (p.Leu383Arg)
n.939+396T>G
c.491T>G (p.Leu164Arg)
c.971T>G (p.Leu324Arg)
c.1016T>G (p.Leu339Arg)
c.848T>G (p.Leu283Arg)
c.1139T>G (p.Leu380Arg)
c.1080+68T>G (n.1080+68T>G)
 ClinVar dbSNP
4g.154569703T=CA1504935521FGBc.1148T= (p.Leu383=)
n.939+396T=
c.491T= (p.Leu164=)
c.971T= (p.Leu324=)
c.1016T= (p.Leu339=)
c.848T= (p.Leu283=)
c.1139T= (p.Leu380=)
c.1080+68T= (n.1080+68T=)
4g.154569704C>ACA442013488FGBc.1149C>A (p.Leu383=)
n.939+397C>A
c.492C>A (p.Leu164=)
c.972C>A (p.Leu324=)
c.1017C>A (p.Leu339=)
c.849C>A (p.Leu283=)
c.1140C>A (p.Leu380=)
c.1081-69C>A (n.1081-69C>A)
4g.154569704C=CA1504935526FGBc.1149C= (p.Leu383=)
n.939+397C=
c.492C= (p.Leu164=)
c.972C= (p.Leu324=)
c.1017C= (p.Leu339=)
c.849C= (p.Leu283=)
c.1140C= (p.Leu380=)
c.1081-69C= (n.1081-69C=)
4g.154569704C>GCA442013489FGBc.1149C>G (p.Leu383=)
n.939+397C>G
c.492C>G (p.Leu164=)
c.972C>G (p.Leu324=)
c.1017C>G (p.Leu339=)
c.849C>G (p.Leu283=)
c.1140C>G (p.Leu380=)
c.1081-69C>G (n.1081-69C>G)
4g.154569704C>TCA108751707FGBc.1149C>T (p.Leu383=)
n.939+397C>T
c.492C>T (p.Leu164=)
c.972C>T (p.Leu324=)
c.1017C>T (p.Leu339=)
c.849C>T (p.Leu283=)
c.1140C>T (p.Leu380=)
c.1081-69C>T (n.1081-69C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.154569705A=CA1504935530FGBc.1150A= (p.Met384=)
n.939+398A=
c.493A= (p.Met165=)
c.973A= (p.Met325=)
c.1018A= (p.Met340=)
c.850A= (p.Met284=)
c.1141A= (p.Met381=)
c.1081-68A= (n.1081-68A=)
4g.154569705A>CCA358515291FGBc.1150A>C (p.Met384Leu)
n.939+398A>C
c.493A>C (p.Met165Leu)
c.973A>C (p.Met325Leu)
c.1018A>C (p.Met340Leu)
c.850A>C (p.Met284Leu)
c.1141A>C (p.Met381Leu)
c.1081-68A>C (n.1081-68A>C)
4g.154569705A>GCA358515292FGBc.1150A>G (p.Met384Val)
n.939+398A>G
c.493A>G (p.Met165Val)
c.973A>G (p.Met325Val)
c.1018A>G (p.Met340Val)
c.850A>G (p.Met284Val)
c.1141A>G (p.Met381Val)
c.1081-68A>G (n.1081-68A>G)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.154569705A>TCA358515294FGBc.1150A>T (p.Met384Leu)
n.939+398A>T
c.493A>T (p.Met165Leu)
c.973A>T (p.Met325Leu)
c.1018A>T (p.Met340Leu)
c.850A>T (p.Met284Leu)
c.1141A>T (p.Met381Leu)
c.1081-68A>T (n.1081-68A>T)
4g.154569706T>ACA358515296FGBc.1151T>A (p.Met384Lys)
n.939+399T>A
c.494T>A (p.Met165Lys)
c.974T>A (p.Met325Lys)
c.1019T>A (p.Met340Lys)
c.851T>A (p.Met284Lys)
c.1142T>A (p.Met381Lys)
c.1081-67T>A (n.1081-67T>A)
4g.154569706T>CCA358515298FGBc.1151T>C (p.Met384Thr)
n.939+399T>C
c.494T>C (p.Met165Thr)
c.974T>C (p.Met325Thr)
c.1019T>C (p.Met340Thr)
c.851T>C (p.Met284Thr)
c.1142T>C (p.Met381Thr)
c.1081-67T>C (n.1081-67T>C)
 gnomAD v4
4g.154569706T>GCA358515299FGBc.1151T>G (p.Met384Arg)
n.939+399T>G
c.494T>G (p.Met165Arg)
c.974T>G (p.Met325Arg)
c.1019T>G (p.Met340Arg)
c.851T>G (p.Met284Arg)
c.1142T>G (p.Met381Arg)
c.1081-67T>G (n.1081-67T>G)
4g.154569707G>ACA358515300FGBc.1152G>A (p.Met384Ile)
n.939+400G>A
c.495G>A (p.Met165Ile)
c.975G>A (p.Met325Ile)
c.1020G>A (p.Met340Ile)
c.852G>A (p.Met284Ile)
c.1143G>A (p.Met381Ile)
c.1081-66G>A (n.1081-66G>A)
4g.154569707G>CCA358515301FGBc.1152G>C (p.Met384Ile)
n.939+400G>C
c.495G>C (p.Met165Ile)
c.975G>C (p.Met325Ile)
c.1020G>C (p.Met340Ile)
c.852G>C (p.Met284Ile)
c.1143G>C (p.Met381Ile)
c.1081-66G>C (n.1081-66G>C)
4g.154569707G=CA1504935534FGBc.1152G= (p.Met384=)
n.939+400G=
c.495G= (p.Met165=)
c.975G= (p.Met325=)
c.1020G= (p.Met340=)
c.852G= (p.Met284=)
c.1143G= (p.Met381=)
c.1081-66G= (n.1081-66G=)
4g.154569707G>TCA3114731FGBc.1152G>T (p.Met384Ile)
n.939+400G>T
c.495G>T (p.Met165Ile)
c.975G>T (p.Met325Ile)
c.1020G>T (p.Met340Ile)
c.852G>T (p.Met284Ile)
c.1143G>T (p.Met381Ile)
c.1081-66G>T (n.1081-66G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched