Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.201209197C>ACA350289443CASP10c.849C>A (p.Cys283Ter)
c.921C>A (p.Cys307Ter)
c.*507C>A (n.*507C>A)
c.*136C>A (n.*136C>A)
c.721+5431C>A (n.721+5431C>A)
c.1050C>A (p.Cys350Ter)
n.958C>A
c.1047C>A (p.Cys349Ter)
c.300C>A (p.Cys100Ter)
2g.201209197C>GCA350289456CASP10c.849C>G (p.Cys283Trp)
c.921C>G (p.Cys307Trp)
c.*507C>G (n.*507C>G)
c.*136C>G (n.*136C>G)
c.721+5431C>G (n.721+5431C>G)
c.1050C>G (p.Cys350Trp)
n.958C>G
c.1047C>G (p.Cys349Trp)
c.300C>G (p.Cys100Trp)
2g.201209197C>TCA430614341CASP10c.849C>T (p.Cys283=)
c.921C>T (p.Cys307=)
c.*507C>T (n.*507C>T)
c.*136C>T (n.*136C>T)
c.721+5431C>T (n.721+5431C>T)
c.1050C>T (p.Cys350=)
n.958C>T
c.1047C>T (p.Cys349=)
c.300C>T (p.Cys100=)
2g.201209198T>ACA350289459CASP10c.850T>A (p.Phe284Ile)
c.922T>A (p.Phe308Ile)
c.*508T>A (n.*508T>A)
c.*137T>A (n.*137T>A)
c.721+5432T>A (n.721+5432T>A)
c.1051T>A (p.Phe351Ile)
n.959T>A
c.1048T>A (p.Phe350Ile)
c.301T>A (p.Phe101Ile)
2g.201209198T>CCA350289460CASP10c.850T>C (p.Phe284Leu)
c.922T>C (p.Phe308Leu)
c.*508T>C (n.*508T>C)
c.*137T>C (n.*137T>C)
c.721+5432T>C (n.721+5432T>C)
c.1051T>C (p.Phe351Leu)
n.959T>C
c.1048T>C (p.Phe350Leu)
c.301T>C (p.Phe101Leu)
2g.201209198T>GCA350289462CASP10c.850T>G (p.Phe284Val)
c.922T>G (p.Phe308Val)
c.*508T>G (n.*508T>G)
c.*137T>G (n.*137T>G)
c.721+5432T>G (n.721+5432T>G)
c.1051T>G (p.Phe351Val)
n.959T>G
c.1048T>G (p.Phe350Val)
c.301T>G (p.Phe101Val)
2g.201209199T>ACA350289464CASP10c.851T>A (p.Phe284Tyr)
c.923T>A (p.Phe308Tyr)
c.*509T>A (n.*509T>A)
c.*138T>A (n.*138T>A)
c.721+5433T>A (n.721+5433T>A)
c.1052T>A (p.Phe351Tyr)
n.960T>A
c.1049T>A (p.Phe350Tyr)
c.302T>A (p.Phe101Tyr)
2g.201209199T>CCA350289475CASP10c.851T>C (p.Phe284Ser)
c.923T>C (p.Phe308Ser)
c.*509T>C (n.*509T>C)
c.*138T>C (n.*138T>C)
c.721+5433T>C (n.721+5433T>C)
c.1052T>C (p.Phe351Ser)
n.960T>C
c.1049T>C (p.Phe350Ser)
c.302T>C (p.Phe101Ser)
2g.201209199T>GCA350289466CASP10c.851T>G (p.Phe284Cys)
c.923T>G (p.Phe308Cys)
c.*509T>G (n.*509T>G)
c.*138T>G (n.*138T>G)
c.721+5433T>G (n.721+5433T>G)
c.1052T>G (p.Phe351Cys)
n.960T>G
c.1049T>G (p.Phe350Cys)
c.302T>G (p.Phe101Cys)
2g.201209200C>ACA350289478CASP10c.852C>A (p.Phe284Leu)
c.924C>A (p.Phe308Leu)
c.*510C>A (n.*510C>A)
c.*139C>A (n.*139C>A)
c.721+5434C>A (n.721+5434C>A)
c.1053C>A (p.Phe351Leu)
n.961C>A
c.1050C>A (p.Phe350Leu)
c.303C>A (p.Phe101Leu)
2g.201209200C=CA1320967266CASP10c.852C= (p.Phe284=)
c.924C= (p.Phe308=)
c.*510C= (n.*510C=)
c.*139C= (n.*139C=)
c.721+5434C= (n.721+5434C=)
c.1053C= (p.Phe351=)
n.961C=
c.1050C= (p.Phe350=)
c.303C= (p.Phe101=)
2g.201209200C>GCA350289481CASP10c.852C>G (p.Phe284Leu)
c.924C>G (p.Phe308Leu)
c.*510C>G (n.*510C>G)
c.*139C>G (n.*139C>G)
c.721+5434C>G (n.721+5434C>G)
c.1053C>G (p.Phe351Leu)
n.961C>G
c.1050C>G (p.Phe350Leu)
c.303C>G (p.Phe101Leu)
2g.201209200C>TCA2053172CASP10c.852C>T (p.Phe284=)
c.924C>T (p.Phe308=)
c.*510C>T (n.*510C>T)
c.*139C>T (n.*139C>T)
c.721+5434C>T (n.721+5434C>T)
c.1053C>T (p.Phe351=)
n.961C>T
c.1050C>T (p.Phe350=)
c.303C>T (p.Phe101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.201209201G>ACA2053173CASP10c.853G>A (p.Val285Met)
c.925G>A (p.Val309Met)
c.*511G>A (n.*511G>A)
c.*140G>A (n.*140G>A)
c.721+5435G>A (n.721+5435G>A)
c.1054G>A (p.Val352Met)
n.962G>A
c.1051G>A (p.Val351Met)
c.304G>A (p.Val102Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.201209201G>CCA350289491CASP10c.853G>C (p.Val285Leu)
c.925G>C (p.Val309Leu)
c.*511G>C (n.*511G>C)
c.*140G>C (n.*140G>C)
c.721+5435G>C (n.721+5435G>C)
c.1054G>C (p.Val352Leu)
n.962G>C
c.1051G>C (p.Val351Leu)
c.304G>C (p.Val102Leu)
2g.201209201G=CA1320967267CASP10c.853G= (p.Val285=)
c.925G= (p.Val309=)
c.*511G= (n.*511G=)
c.*140G= (n.*140G=)
c.721+5435G= (n.721+5435G=)
c.1054G= (p.Val352=)
n.962G=
c.1051G= (p.Val351=)
c.304G= (p.Val102=)
2g.201209201G>TCA350289496CASP10c.853G>T (p.Val285Leu)
c.925G>T (p.Val309Leu)
c.*511G>T (n.*511G>T)
c.*140G>T (n.*140G>T)
c.721+5435G>T (n.721+5435G>T)
c.1054G>T (p.Val352Leu)
n.962G>T
c.1051G>T (p.Val351Leu)
c.304G>T (p.Val102Leu)
2g.201209202T>ACA350289501CASP10c.854T>A (p.Val285Glu)
c.926T>A (p.Val309Glu)
c.*512T>A (n.*512T>A)
c.*141T>A (n.*141T>A)
c.721+5436T>A (n.721+5436T>A)
c.1055T>A (p.Val352Glu)
n.963T>A
c.1052T>A (p.Val351Glu)
c.305T>A (p.Val102Glu)
2g.201209202T>CCA350289506CASP10c.854T>C (p.Val285Ala)
c.926T>C (p.Val309Ala)
c.*512T>C (n.*512T>C)
c.*141T>C (n.*141T>C)
c.721+5436T>C (n.721+5436T>C)
c.1055T>C (p.Val352Ala)
n.963T>C
c.1052T>C (p.Val351Ala)
c.305T>C (p.Val102Ala)
 dbSNP gnomAD v4
2g.201209202T>GCA350289510CASP10c.854T>G (p.Val285Gly)
c.926T>G (p.Val309Gly)
c.*512T>G (n.*512T>G)
c.*141T>G (n.*141T>G)
c.721+5436T>G (n.721+5436T>G)
c.1055T>G (p.Val352Gly)
n.963T>G
c.1052T>G (p.Val351Gly)
c.305T>G (p.Val102Gly)
2g.201209202T=CA1320967268CASP10c.854T= (p.Val285=)
c.926T= (p.Val309=)
c.*512T= (n.*512T=)
c.*141T= (n.*141T=)
c.721+5436T= (n.721+5436T=)
c.1055T= (p.Val352=)
n.963T=
c.1052T= (p.Val351=)
c.305T= (p.Val102=)
2g.201209203G>ACA430614388CASP10c.855G>A (p.Val285=)
c.927G>A (p.Val309=)
c.*513G>A (n.*513G>A)
c.*142G>A (n.*142G>A)
c.721+5437G>A (n.721+5437G>A)
c.1056G>A (p.Val352=)
n.964G>A
c.1053G>A (p.Val351=)
c.306G>A (p.Val102=)
2g.201209203G>CCA430614390CASP10c.855G>C (p.Val285=)
c.927G>C (p.Val309=)
c.*513G>C (n.*513G>C)
c.*142G>C (n.*142G>C)
c.721+5437G>C (n.721+5437G>C)
c.1056G>C (p.Val352=)
n.964G>C
c.1053G>C (p.Val351=)
c.306G>C (p.Val102=)
2g.201209203G>TCA430614392CASP10c.855G>T (p.Val285=)
c.927G>T (p.Val309=)
c.*513G>T (n.*513G>T)
c.*142G>T (n.*142G>T)
c.721+5437G>T (n.721+5437G>T)
c.1056G>T (p.Val352=)
n.964G>T
c.1053G>T (p.Val351=)
c.306G>T (p.Val102=)
2g.201209204T>ACA350289513CASP10c.856T>A (p.Phe286Ile)
c.928T>A (p.Phe310Ile)
c.*514T>A (n.*514T>A)
c.*143T>A (n.*143T>A)
c.721+5438T>A (n.721+5438T>A)
c.1057T>A (p.Phe353Ile)
n.965T>A
c.1054T>A (p.Phe352Ile)
c.307T>A (p.Phe103Ile)
2g.201209204T>CCA350289517CASP10c.856T>C (p.Phe286Leu)
c.928T>C (p.Phe310Leu)
c.*514T>C (n.*514T>C)
c.*143T>C (n.*143T>C)
c.721+5438T>C (n.721+5438T>C)
c.1057T>C (p.Phe353Leu)
n.965T>C
c.1054T>C (p.Phe352Leu)
c.307T>C (p.Phe103Leu)
2g.201209204T>GCA350289523CASP10c.856T>G (p.Phe286Val)
c.928T>G (p.Phe310Val)
c.*514T>G (n.*514T>G)
c.*143T>G (n.*143T>G)
c.721+5438T>G (n.721+5438T>G)
c.1057T>G (p.Phe353Val)
n.965T>G
c.1054T>G (p.Phe352Val)
c.307T>G (p.Phe103Val)
2g.201209205T>ACA350289534CASP10c.857T>A (p.Phe286Tyr)
c.929T>A (p.Phe310Tyr)
c.*515T>A (n.*515T>A)
c.*144T>A (n.*144T>A)
c.721+5439T>A (n.721+5439T>A)
c.1058T>A (p.Phe353Tyr)
n.966T>A
c.1055T>A (p.Phe352Tyr)
c.308T>A (p.Phe103Tyr)
2g.201209205T>CCA350289538CASP10c.857T>C (p.Phe286Ser)
c.929T>C (p.Phe310Ser)
c.*515T>C (n.*515T>C)
c.*144T>C (n.*144T>C)
c.721+5439T>C (n.721+5439T>C)
c.1058T>C (p.Phe353Ser)
n.966T>C
c.1055T>C (p.Phe352Ser)
c.308T>C (p.Phe103Ser)
2g.201209205T>GCA350289528CASP10c.857T>G (p.Phe286Cys)
c.929T>G (p.Phe310Cys)
c.*515T>G (n.*515T>G)
c.*144T>G (n.*144T>G)
c.721+5439T>G (n.721+5439T>G)
c.1058T>G (p.Phe353Cys)
n.966T>G
c.1055T>G (p.Phe352Cys)
c.308T>G (p.Phe103Cys)
2g.201209206C>ACA350289543CASP10c.858C>A (p.Phe286Leu)
c.930C>A (p.Phe310Leu)
c.*516C>A (n.*516C>A)
c.*145C>A (n.*145C>A)
c.721+5440C>A (n.721+5440C>A)
c.1059C>A (p.Phe353Leu)
n.967C>A
c.1056C>A (p.Phe352Leu)
c.309C>A (p.Phe103Leu)
2g.201209206C>GCA350289547CASP10c.858C>G (p.Phe286Leu)
c.930C>G (p.Phe310Leu)
c.*516C>G (n.*516C>G)
c.*145C>G (n.*145C>G)
c.721+5440C>G (n.721+5440C>G)
c.1059C>G (p.Phe353Leu)
n.967C>G
c.1056C>G (p.Phe352Leu)
c.309C>G (p.Phe103Leu)
2g.201209206C>TCA430614403CASP10c.858C>T (p.Phe286=)
c.930C>T (p.Phe310=)
c.*516C>T (n.*516C>T)
c.*145C>T (n.*145C>T)
c.721+5440C>T (n.721+5440C>T)
c.1059C>T (p.Phe353=)
n.967C>T
c.1056C>T (p.Phe352=)
c.309C>T (p.Phe103=)
2g.201209207T>ACA350289556CASP10c.859T>A (p.Cys287Ser)
c.931T>A (p.Cys311Ser)
c.*517T>A (n.*517T>A)
c.*146T>A (n.*146T>A)
c.721+5441T>A (n.721+5441T>A)
c.1060T>A (p.Cys354Ser)
n.968T>A
c.1057T>A (p.Cys353Ser)
c.310T>A (p.Cys104Ser)
2g.201209207T>CCA350289559CASP10c.859T>C (p.Cys287Arg)
c.931T>C (p.Cys311Arg)
c.*517T>C (n.*517T>C)
c.*146T>C (n.*146T>C)
c.721+5441T>C (n.721+5441T>C)
c.1060T>C (p.Cys354Arg)
n.968T>C
c.1057T>C (p.Cys353Arg)
c.310T>C (p.Cys104Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.201209207T>GCA350289565CASP10c.859T>G (p.Cys287Gly)
c.931T>G (p.Cys311Gly)
c.*517T>G (n.*517T>G)
c.*146T>G (n.*146T>G)
c.721+5441T>G (n.721+5441T>G)
c.1060T>G (p.Cys354Gly)
n.968T>G
c.1057T>G (p.Cys353Gly)
c.310T>G (p.Cys104Gly)
2g.201209207T=CA1320967269CASP10c.859T= (p.Cys287=)
c.931T= (p.Cys311=)
c.*517T= (n.*517T=)
c.*146T= (n.*146T=)
c.721+5441T= (n.721+5441T=)
c.1060T= (p.Cys354=)
n.968T=
c.1057T= (p.Cys353=)
c.310T= (p.Cys104=)
2g.201209208G>ACA2053174CASP10c.860G>A (p.Cys287Tyr)
c.932G>A (p.Cys311Tyr)
c.*518G>A (n.*518G>A)
c.*147G>A (n.*147G>A)
c.721+5442G>A (n.721+5442G>A)
c.1061G>A (p.Cys354Tyr)
n.969G>A
c.1058G>A (p.Cys353Tyr)
c.311G>A (p.Cys104Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.201209208G>CCA350289568CASP10c.860G>C (p.Cys287Ser)
c.932G>C (p.Cys311Ser)
c.*518G>C (n.*518G>C)
c.*147G>C (n.*147G>C)
c.721+5442G>C (n.721+5442G>C)
c.1061G>C (p.Cys354Ser)
n.969G>C
c.1058G>C (p.Cys353Ser)
c.311G>C (p.Cys104Ser)
2g.201209208G=CA1320967270CASP10c.860G= (p.Cys287=)
c.932G= (p.Cys311=)
c.*518G= (n.*518G=)
c.*147G= (n.*147G=)
c.721+5442G= (n.721+5442G=)
c.1061G= (p.Cys354=)
n.969G=
c.1058G= (p.Cys353=)
c.311G= (p.Cys104=)
2g.201209208G>TCA350289570CASP10c.860G>T (p.Cys287Phe)
c.932G>T (p.Cys311Phe)
c.*518G>T (n.*518G>T)
c.*147G>T (n.*147G>T)
c.721+5442G>T (n.721+5442G>T)
c.1061G>T (p.Cys354Phe)
n.969G>T
c.1058G>T (p.Cys353Phe)
c.311G>T (p.Cys104Phe)
2g.201209209T>ACA350289574CASP10c.861T>A (p.Cys287Ter)
c.933T>A (p.Cys311Ter)
c.*519T>A (n.*519T>A)
c.*148T>A (n.*148T>A)
c.721+5443T>A (n.721+5443T>A)
c.1062T>A (p.Cys354Ter)
n.970T>A
c.1059T>A (p.Cys353Ter)
c.312T>A (p.Cys104Ter)
2g.201209209T>CCA430614417CASP10c.861T>C (p.Cys287=)
c.933T>C (p.Cys311=)
c.*519T>C (n.*519T>C)
c.*148T>C (n.*148T>C)
c.721+5443T>C (n.721+5443T>C)
c.1062T>C (p.Cys354=)
n.970T>C
c.1059T>C (p.Cys353=)
c.312T>C (p.Cys104=)
2g.201209209T>GCA2053175CASP10c.861T>G (p.Cys287Trp)
c.933T>G (p.Cys311Trp)
c.*519T>G (n.*519T>G)
c.*148T>G (n.*148T>G)
c.721+5443T>G (n.721+5443T>G)
c.1062T>G (p.Cys354Trp)
n.970T>G
c.1059T>G (p.Cys353Trp)
c.312T>G (p.Cys104Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.201209209T=CA1320967271CASP10c.861T= (p.Cys287=)
c.933T= (p.Cys311=)
c.*519T= (n.*519T=)
c.*148T= (n.*148T=)
c.721+5443T= (n.721+5443T=)
c.1062T= (p.Cys354=)
n.970T=
c.1059T= (p.Cys353=)
c.312T= (p.Cys104=)
2g.201209210A=CA1320967272CASP10c.862A= (p.Ile288=)
c.934A= (p.Ile312=)
c.*520A= (n.*520A=)
c.*149A= (n.*149A=)
c.721+5444A= (n.721+5444A=)
c.1063A= (p.Ile355=)
n.971A=
c.1060A= (p.Ile354=)
c.313A= (p.Ile105=)
2g.201209210A>CCA350289593CASP10c.862A>C (p.Ile288Leu)
c.934A>C (p.Ile312Leu)
c.*520A>C (n.*520A>C)
c.*149A>C (n.*149A>C)
c.721+5444A>C (n.721+5444A>C)
c.1063A>C (p.Ile355Leu)
n.971A>C
c.1060A>C (p.Ile354Leu)
c.313A>C (p.Ile105Leu)
2g.201209210A>GCA2053176CASP10c.862A>G (p.Ile288Val)
c.934A>G (p.Ile312Val)
c.*520A>G (n.*520A>G)
c.*149A>G (n.*149A>G)
c.721+5444A>G (n.721+5444A>G)
c.1063A>G (p.Ile355Val)
n.971A>G
c.1060A>G (p.Ile354Val)
c.313A>G (p.Ile105Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.201209210A>TCA350289595CASP10c.862A>T (p.Ile288Phe)
c.934A>T (p.Ile312Phe)
c.*520A>T (n.*520A>T)
c.*149A>T (n.*149A>T)
c.721+5444A>T (n.721+5444A>T)
c.1063A>T (p.Ile355Phe)
n.971A>T
c.1060A>T (p.Ile354Phe)
c.313A>T (p.Ile105Phe)
2g.201209211T>ACA350289621CASP10c.863T>A (p.Ile288Asn)
c.935T>A (p.Ile312Asn)
c.*521T>A (n.*521T>A)
c.*150T>A (n.*150T>A)
c.721+5445T>A (n.721+5445T>A)
c.1064T>A (p.Ile355Asn)
n.972T>A
c.1061T>A (p.Ile354Asn)
c.314T>A (p.Ile105Asn)

Number of alleles fetched