Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206767171_206767188delinsTCTGAGGAATGTAATTCCCA1323320497FASTKD2c.478_495delinsTCTGAGGAATGTAATTCC (p.Ser160=)
n.536_553delinsTCTGAGGAATGTAATTCC
2g.206767177_206767193delCA1041644731FASTKD2c.484_500del (p.Glu162Ter)
n.542_558del
dbSNP gnomAD v3 gnomAD v4
2g.206767179A>CCA350071304FASTKD2c.486A>C (p.Glu162Asp)
n.544A>C
2g.206767179A>GCA431115347FASTKD2c.486A>G (p.Glu162=)
n.544A>G
gnomAD v4
2g.206767179A>TCA350071308FASTKD2c.486A>T (p.Glu162Asp)
n.544A>T
2g.206767180T>ACA350071323FASTKD2c.487T>A (p.Cys163Ser)
n.545T>A
2g.206767180T>CCA350071321FASTKD2c.487T>C (p.Cys163Arg)
n.545T>C
2g.206767180T>GCA350071317FASTKD2c.487T>G (p.Cys163Gly)
n.545T>G
2g.206767181G>ACA350071326FASTKD2c.488G>A (p.Cys163Tyr)
n.546G>A
2g.206767181G>CCA350071330FASTKD2c.488G>C (p.Cys163Ser)
n.546G>C
2g.206767181G>TCA350071333FASTKD2c.488G>T (p.Cys163Phe)
n.546G>T
2g.206767182T>ACA350071334FASTKD2c.489T>A (p.Cys163Ter)
n.547T>A
2g.206767182T>CCA2074887FASTKD2c.489T>C (p.Cys163=)
n.547T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767182T>GCA350071337FASTKD2c.489T>G (p.Cys163Trp)
n.547T>G
2g.206767182T=CA1323320502FASTKD2c.489T= (p.Cys163=)
n.547T=
2g.206767183A>CCA350071340FASTKD2c.490A>C (p.Asn164His)
n.548A>C
2g.206767183A>GCA350071343FASTKD2c.490A>G (p.Asn164Asp)
n.548A>G
2g.206767183A>TCA350071346FASTKD2c.490A>T (p.Asn164Tyr)
n.548A>T
2g.206767184A>CCA350071348FASTKD2c.491A>C (p.Asn164Thr)
n.549A>C
2g.206767184A>GCA350071355FASTKD2c.491A>G (p.Asn164Ser)
n.549A>G
2g.206767184A>TCA350071358FASTKD2c.491A>T (p.Asn164Ile)
n.549A>T
2g.206767185T>ACA350071365FASTKD2c.492T>A (p.Asn164Lys)
n.550T>A
2g.206767185T>CCA431115361FASTKD2c.492T>C (p.Asn164=)
n.550T>C
2g.206767185T>GCA350071361FASTKD2c.492T>G (p.Asn164Lys)
n.550T>G
2g.206767186T>ACA350071368FASTKD2c.493T>A (p.Ser165Thr)
n.551T>A
2g.206767186T>CCA2074888FASTKD2c.493T>C (p.Ser165Pro)
n.551T>C
dbSNP ExAC gnomAD v2
2g.206767186T>GCA350071374FASTKD2c.493T>G (p.Ser165Ala)
n.551T>G
2g.206767186T=CA1323320503FASTKD2c.493T= (p.Ser165=)
n.551T=
2g.206767187C>ACA350071380FASTKD2c.494C>A (p.Ser165Tyr)
n.552C>A
2g.206767187C>GCA350071383FASTKD2c.494C>G (p.Ser165Cys)
n.552C>G
2g.206767187C>TCA350071386FASTKD2c.494C>T (p.Ser165Phe)
n.552C>T
COSMIC
2g.206767188C>ACA431115368FASTKD2c.495C>A (p.Ser165=)
n.553C>A
2g.206767188C>GCA431115370FASTKD2c.495C>G (p.Ser165=)
n.553C>G
gnomAD v4
2g.206767188C>TCA431115371FASTKD2c.495C>T (p.Ser165=)
n.553C>T
gnomAD v4
2g.206767188_206767190delinsCCTCA1323320504FASTKD2c.495_497delinsCCT (p.Ser165=)
n.553_555delinsCCT
2g.206767189C>ACA350071394FASTKD2c.496C>A (p.Leu166Met)
n.554C>A
2g.206767189C>GCA350071390FASTKD2c.496C>G (p.Leu166Val)
n.554C>G
2g.206767189C>TCA431115374FASTKD2c.496C>T (p.Leu166=)
n.554C>T
2g.206767189_206767190delCA763820976FASTKD2c.496_497del (p.Leu166GlufsTer2)
n.554_555del
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.206767190T>ACA350071414FASTKD2c.497T>A (p.Leu166Gln)
n.555T>A
2g.206767190T>CCA350071420FASTKD2c.497T>C (p.Leu166Pro)
n.555T>C
gnomAD v4
2g.206767190T>GCA350071424FASTKD2c.497T>G (p.Leu166Arg)
n.555T>G
2g.206767191G>ACA431115377FASTKD2c.498G>A (p.Leu166=)
n.556G>A
2g.206767191G>CCA431115379FASTKD2c.498G>C (p.Leu166=)
n.556G>C
2g.206767191G>TCA431115380FASTKD2c.498G>T (p.Leu166=)
n.556G>T
2g.206767192A>CCA350071428FASTKD2c.499A>C (p.Ser167Arg)
n.557A>C
2g.206767192A>GCA350071433FASTKD2c.499A>G (p.Ser167Gly)
n.557A>G
2g.206767192A>TCA350071443FASTKD2c.499A>T (p.Ser167Cys)
n.557A>T
2g.206767193G>ACA350071446FASTKD2c.500G>A (p.Ser167Asn)
n.558G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767193G>CCA350071452FASTKD2c.500G>C (p.Ser167Thr)
n.558G>C
2g.206767193G=CA1323320505FASTKD2c.500G= (p.Ser167=)
n.558G=
2g.206767193G>TCA350071450FASTKD2c.500G>T (p.Ser167Ile)
n.558G>T
2g.206767194T>ACA350071459FASTKD2c.501T>A (p.Ser167Arg)
n.559T>A
2g.206767194T>CCA431115386FASTKD2c.501T>C (p.Ser167=)
n.559T>C
2g.206767194T>GCA350071461FASTKD2c.501T>G (p.Ser167Arg)
n.559T>G
2g.206767195G>ACA2074889FASTKD2c.502G>A (p.Asp168Asn)
n.560G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767195G>CCA350071463FASTKD2c.502G>C (p.Asp168His)
n.560G>C
2g.206767195G=CA1323320506FASTKD2c.502G= (p.Asp168=)
n.560G=
2g.206767195G>TCA350071464FASTKD2c.502G>T (p.Asp168Tyr)
n.560G>T
2g.206767195_206767196delinsGACA1323320507FASTKD2c.502_503delinsGA (p.Asp168=)
n.560_561delinsGA
2g.206767196delCA539388790FASTKD2c.503del (p.Asp168ValfsTer3)
n.561del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767196A=CA1323320508FASTKD2c.503A= (p.Asp168=)
n.561A=
2g.206767196A>CCA350071465FASTKD2c.503A>C (p.Asp168Ala)
n.561A>C
2g.206767196A>GCA2074890FASTKD2c.503A>G (p.Asp168Gly)
n.561A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767196A>TCA350071467FASTKD2c.503A>T (p.Asp168Val)
n.561A>T
2g.206767197T>ACA350071475FASTKD2c.504T>A (p.Asp168Glu)
n.562T>A
gnomAD v4
2g.206767197T>CCA2074891FASTKD2c.504T>C (p.Asp168=)
n.562T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767197T>GCA350071487FASTKD2c.504T>G (p.Asp168Glu)
n.562T>G
2g.206767197T=CA1323320509FASTKD2c.504T= (p.Asp168=)
n.562T=
2g.206767198G>ACA350071493FASTKD2c.505G>A (p.Val169Met)
n.563G>A
gnomAD v4
2g.206767198G>CCA350071495FASTKD2c.505G>C (p.Val169Leu)
n.563G>C
2g.206767198G>TCA350071490FASTKD2c.505G>T (p.Val169Leu)
n.563G>T
2g.206767199T>ACA350071504FASTKD2c.506T>A (p.Val169Glu)
n.564T>A
2g.206767199T>CCA350071498FASTKD2c.506T>C (p.Val169Ala)
n.564T>C
2g.206767199T>GCA63710008FASTKD2c.506T>G (p.Val169Gly)
n.564T>G
dbSNP gnomAD v4
2g.206767199T=CA1323320510FASTKD2c.506T= (p.Val169=)
n.564T=
2g.206767200G>ACA431115402FASTKD2c.507G>A (p.Val169=)
n.565G>A
gnomAD v4
2g.206767200G>CCA431115403FASTKD2c.507G>C (p.Val169=)
n.565G>C
2g.206767200G>TCA431115404FASTKD2c.507G>T (p.Val169=)
n.565G>T
2g.206767201T>ACA350071505FASTKD2c.508T>A (p.Leu170Ile)
n.566T>A
2g.206767201T>CCA431115405FASTKD2c.508T>C (p.Leu170=)
n.566T>C
2g.206767201T>GCA350071510FASTKD2c.508T>G (p.Leu170Val)
n.566T>G
2g.206767202T>ACA350071513FASTKD2c.509T>A (p.Leu170Ter)
n.567T>A
2g.206767202T>CCA350071514FASTKD2c.509T>C (p.Leu170Ser)
n.567T>C
2g.206767202T>GCA350071525FASTKD2c.509T>G (p.Leu170Ter)
n.567T>G
2g.206767203A>CCA350071528FASTKD2c.510A>C (p.Leu170Phe)
n.568A>C
2g.206767203A>GCA431115411FASTKD2c.510A>G (p.Leu170=)
n.568A>G
2g.206767203A>TCA350071531FASTKD2c.510A>T (p.Leu170Phe)
n.568A>T
2g.206767204G>ACA350071534FASTKD2c.511G>A (p.Asp171Asn)
n.569G>A
2g.206767204G>CCA350071541FASTKD2c.511G>C (p.Asp171His)
n.569G>C
2g.206767204G>TCA350071542FASTKD2c.511G>T (p.Asp171Tyr)
n.569G>T
gnomAD v4
2g.206767205A>CCA350071549FASTKD2c.512A>C (p.Asp171Ala)
n.570A>C
2g.206767205A>GCA350071545FASTKD2c.512A>G (p.Asp171Gly)
n.570A>G
2g.206767205A>TCA350071547FASTKD2c.512A>T (p.Asp171Val)
n.570A>T
gnomAD v4
2g.206767206T>ACA350071553FASTKD2c.513T>A (p.Asp171Glu)
n.571T>A
2g.206767206T>CCA431115417FASTKD2c.513T>C (p.Asp171=)
n.571T>C
2g.206767206T>GCA350071556FASTKD2c.513T>G (p.Asp171Glu)
n.571T>G
2g.206767207G>ACA350071558FASTKD2c.514G>A (p.Ala172Thr)
n.572G>A
2g.206767207G>CCA350071561FASTKD2c.514G>C (p.Ala172Pro)
n.572G>C
2g.206767207G>TCA350071564FASTKD2c.514G>T (p.Ala172Ser)
n.572G>T
2g.206767208C>ACA350071573FASTKD2c.515C>A (p.Ala172Glu)
n.573C>A
2g.206767208C>GCA350071574FASTKD2c.515C>G (p.Ala172Gly)
n.573C>G
2g.206767208C>TCA350071576FASTKD2c.515C>T (p.Ala172Val)
n.573C>T
2g.206767209A=CA1323320511FASTKD2c.516A= (p.Ala172=)
n.574A=
2g.206767209A>CCA431115427FASTKD2c.516A>C (p.Ala172=)
n.574A>C
2g.206767209A>GCA2074892FASTKD2c.516A>G (p.Ala172=)
n.574A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767209A>TCA431115426FASTKD2c.516A>T (p.Ala172=)
n.574A>T
2g.206767210T>ACA350071582FASTKD2c.517T>A (p.Phe173Ile)
n.575T>A
2g.206767210T>CCA350071592FASTKD2c.517T>C (p.Phe173Leu)
n.575T>C
2g.206767210T>GCA350071595FASTKD2c.517T>G (p.Phe173Val)
n.575T>G
2g.206767211T>ACA350071602FASTKD2c.518T>A (p.Phe173Tyr)
n.576T>A
2g.206767211T>CCA350071606FASTKD2c.518T>C (p.Phe173Ser)
n.576T>C
2g.206767211T>GCA350071599FASTKD2c.518T>G (p.Phe173Cys)
n.576T>G
2g.206767212T>ACA350071610FASTKD2c.519T>A (p.Phe173Leu)
n.577T>A
2g.206767212T>CCA431115437FASTKD2c.519T>C (p.Phe173=)
n.577T>C
2g.206767212T>GCA350071613FASTKD2c.519T>G (p.Phe173Leu)
n.577T>G
2g.206767213T>ACA350071621FASTKD2c.520T>A (p.Ser174Thr)
n.578T>A
2g.206767213T>CCA350071627FASTKD2c.520T>C (p.Ser174Pro)
n.578T>C
2g.206767213T>GCA350071630FASTKD2c.520T>G (p.Ser174Ala)
n.578T>G
2g.206767214C>ACA350071634FASTKD2c.521C>A (p.Ser174Ter)
n.579C>A
2g.206767214C>GCA350071636FASTKD2c.521C>G (p.Ser174Ter)
n.579C>G
2g.206767214C>TCA350071639FASTKD2c.521C>T (p.Ser174Leu)
n.579C>T
2g.206767215A=CA1323320512FASTKD2c.522A= (p.Ser174=)
n.580A=
2g.206767215A>CCA431115450FASTKD2c.522A>C (p.Ser174=)
n.580A>C
2g.206767215A>GCA431115448FASTKD2c.522A>G (p.Ser174=)
n.580A>G
2g.206767215A>TCA431115452FASTKD2c.522A>T (p.Ser174=)
n.580A>T
2g.206767215_206767216insTTGGAGACTTCATGATTCA1323320514FASTKD2c.522_523insTTGGAGACTTCATGATT (p.Lys175LeufsTer5)
n.580_581insTTGGAGACTTCATGATT
dbSNP
2g.206767216A=CA1323320513FASTKD2c.523A= (p.Lys175=)
n.581A=
2g.206767216A>CCA350071642FASTKD2c.523A>C (p.Lys175Gln)
n.581A>C
2g.206767216A>GCA2074893FASTKD2c.523A>G (p.Lys175Glu)
n.581A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767216A>TCA350071650FASTKD2c.523A>T (p.Lys175Ter)
n.581A>T
2g.206767217A>CCA350071653FASTKD2c.524A>C (p.Lys175Thr)
n.582A>C
2g.206767217A>GCA350071655FASTKD2c.524A>G (p.Lys175Arg)
n.582A>G
gnomAD v4
2g.206767217A>TCA350071657FASTKD2c.524A>T (p.Lys175Ile)
n.582A>T
2g.206767218A=CA1323320515FASTKD2c.525A= (p.Lys175=)
n.583A=
2g.206767218A>CCA350071659FASTKD2c.525A>C (p.Lys175Asn)
n.583A>C
2g.206767218A>GCA431115455FASTKD2c.525A>G (p.Lys175=)
n.583A>G
dbSNP
2g.206767218A>TCA350071663FASTKD2c.525A>T (p.Lys175Asn)
n.583A>T
2g.206767219G>ACA350071667FASTKD2c.526G>A (p.Ala176Thr)
n.584G>A
2g.206767219G>CCA350071676FASTKD2c.526G>C (p.Ala176Pro)
n.584G>C
2g.206767219G>TCA350071682FASTKD2c.526G>T (p.Ala176Ser)
n.584G>T
ClinVar
2g.206767220C>ACA350071685FASTKD2c.527C>A (p.Ala176Glu)
n.585C>A
2g.206767220C=CA1323320516FASTKD2c.527C= (p.Ala176=)
n.585C=
2g.206767220C>GCA350071687FASTKD2c.527C>G (p.Ala176Gly)
n.585C>G
dbSNP
2g.206767220C>TCA2074894FASTKD2c.527C>T (p.Ala176Val)
n.585C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767221G>ACA2074895FASTKD2c.528G>A (p.Ala176=)
n.586G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.206767221G>CCA431115465FASTKD2c.528G>C (p.Ala176=)
n.586G>C
dbSNP gnomAD v2 gnomAD v4
2g.206767221G=CA1323320517FASTKD2c.528G= (p.Ala176=)
n.586G=
2g.206767221G>TCA2074896FASTKD2c.528G>T (p.Ala176=)
n.586G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767222C>ACA350071703FASTKD2c.529C>A (p.Pro177Thr)
n.587C>A
2g.206767222C=CA1323320518FASTKD2c.529C= (p.Pro177=)
n.587C=
2g.206767222C>GCA350071707FASTKD2c.529C>G (p.Pro177Ala)
n.587C>G
dbSNP gnomAD v3 gnomAD v4
2g.206767222C>TCA350071708FASTKD2c.529C>T (p.Pro177Ser)
n.587C>T
2g.206767223C>ACA350071711FASTKD2c.530C>A (p.Pro177His)
n.588C>A
2g.206767223C=CA1323320519FASTKD2c.530C= (p.Pro177=)
n.588C=
2g.206767223C>GCA2074897FASTKD2c.530C>G (p.Pro177Arg)
n.588C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767223C>TCA350071713FASTKD2c.530C>T (p.Pro177Leu)
n.588C>T
2g.206767224C>ACA431115475FASTKD2c.531C>A (p.Pro177=)
n.589C>A
dbSNP
2g.206767224C=CA1323320520FASTKD2c.531C= (p.Pro177=)
n.589C=
2g.206767224C>GCA431115476FASTKD2c.531C>G (p.Pro177=)
n.589C>G
2g.206767224C>TCA431115477FASTKD2c.531C>T (p.Pro177=)
n.589C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767225A>CCA350071718FASTKD2c.532A>C (p.Thr178Pro)
n.590A>C
2g.206767225A>GCA350071725FASTKD2c.532A>G (p.Thr178Ala)
n.590A>G
2g.206767225A>TCA350071716FASTKD2c.532A>T (p.Thr178Ser)
n.590A>T
2g.206767226C>ACA350071727FASTKD2c.533C>A (p.Thr178Lys)
n.591C>A
2g.206767226C>GCA350071733FASTKD2c.533C>G (p.Thr178Arg)
n.591C>G
2g.206767226C>TCA350071729FASTKD2c.533C>T (p.Thr178Ile)
n.591C>T
2g.206767227A=CA1323320522FASTKD2c.534A= (p.Thr178=)
n.592A=
2g.206767227A>CCA431115482FASTKD2c.534A>C (p.Thr178=)
n.592A>C
2g.206767227A>GCA2074898FASTKD2c.534A>G (p.Thr178=)
n.592A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767227A>TCA431115483FASTKD2c.534A>T (p.Thr178=)
n.592A>T
2g.206767227_206767228delinsATCA1323320521FASTKD2c.534_535delinsAT (p.Thr178=)
n.592_593delinsAT
2g.206767228T>ACA350071748FASTKD2c.535T>A (p.Phe179Ile)
n.593T>A
2g.206767228T>CCA350071739FASTKD2c.535T>C (p.Phe179Leu)
n.593T>C
2g.206767228T>GCA350071752FASTKD2c.535T>G (p.Phe179Val)
n.593T>G
2g.206767230delCA539388791FASTKD2c.537del (p.Pro180LeufsTer27)
n.595del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767229T>ACA350071753FASTKD2c.536T>A (p.Phe179Tyr)
n.594T>A
2g.206767229T>CCA350071754FASTKD2c.536T>C (p.Phe179Ser)
n.594T>C
2g.206767229T>GCA350071755FASTKD2c.536T>G (p.Phe179Cys)
n.594T>G
2g.206767230T>ACA350071756FASTKD2c.537T>A (p.Phe179Leu)
n.595T>A
2g.206767230T>CCA431115488FASTKD2c.537T>C (p.Phe179=)
n.595T>C
2g.206767230T>GCA350071759FASTKD2c.537T>G (p.Phe179Leu)
n.595T>G
2g.206767231C>ACA350071764FASTKD2c.538C>A (p.Pro180Thr)
n.596C>A
2g.206767231C>GCA350071766FASTKD2c.538C>G (p.Pro180Ala)
n.596C>G
2g.206767231C>TCA350071768FASTKD2c.538C>T (p.Pro180Ser)
n.596C>T
2g.206767232C>ACA350071770FASTKD2c.539C>A (p.Pro180His)
n.597C>A
2g.206767232C>GCA350071771FASTKD2c.539C>G (p.Pro180Arg)
n.597C>G
2g.206767232C>TCA350071775FASTKD2c.539C>T (p.Pro180Leu)
n.597C>T
COSMIC
2g.206767233T>ACA431115495FASTKD2c.540T>A (p.Pro180=)
n.598T>A
2g.206767233T>CCA2074899FASTKD2c.540T>C (p.Pro180=)
n.598T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767233T>GCA431115497FASTKD2c.540T>G (p.Pro180=)
n.598T>G
2g.206767233T=CA1323320523FASTKD2c.540T= (p.Pro180=)
n.598T=
2g.206767234A=CA1323320524FASTKD2c.541A= (p.Ser181=)
n.599A=
2g.206767234A>CCA350071781FASTKD2c.541A>C (p.Ser181Arg)
n.599A>C
2g.206767234A>GCA350071776FASTKD2c.541A>G (p.Ser181Gly)
n.599A>G
dbSNP
2g.206767234A>TCA350071779FASTKD2c.541A>T (p.Ser181Cys)
n.599A>T
2g.206767235G>ACA2074900FASTKD2c.542G>A (p.Ser181Asn)
n.600G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767235G>CCA350071785FASTKD2c.542G>C (p.Ser181Thr)
n.600G>C
dbSNP gnomAD v2 gnomAD v4
2g.206767235G=CA1323320525FASTKD2c.542G= (p.Ser181=)
n.600G=
2g.206767235G>TCA350071788FASTKD2c.542G>T (p.Ser181Ile)
n.600G>T
2g.206767236T>ACA350071791FASTKD2c.543T>A (p.Ser181Arg)
n.601T>A
2g.206767236T>CCA431114647FASTKD2c.543T>C (p.Ser181=)
n.601T>C
dbSNP
2g.206767236T>GCA350071794FASTKD2c.543T>G (p.Ser181Arg)
n.601T>G
2g.206767236T=CA1323320526FASTKD2c.543T= (p.Ser181=)
n.601T=
2g.206767236_206767237insCCA1323320527FASTKD2c.543_544insC (p.Ser182GlnfsTer16)
n.601_602insC
dbSNP
2g.206767237A=CA1323320528FASTKD2c.544A= (p.Ser182=)
n.602A=
2g.206767237A>CCA2074901FASTKD2c.544A>C (p.Ser182Arg)
n.602A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767237A>GCA350071797FASTKD2c.544A>G (p.Ser182Gly)
n.602A>G
2g.206767237A>TCA350071798FASTKD2c.544A>T (p.Ser182Cys)
n.602A>T
2g.206767238G>ACA350071802FASTKD2c.545G>A (p.Ser182Asn)
n.603G>A
2g.206767238G>CCA350071803FASTKD2c.545G>C (p.Ser182Thr)
n.603G>C
2g.206767238G>TCA350071804FASTKD2c.545G>T (p.Ser182Ile)
n.603G>T
2g.206767239C>ACA350071808FASTKD2c.546C>A (p.Ser182Arg)
n.604C>A
2g.206767239C>GCA350071806FASTKD2c.546C>G (p.Ser182Arg)
n.604C>G
2g.206767239C>TCA431114648FASTKD2c.546C>T (p.Ser182=)
n.604C>T
gnomAD v4
2g.206767240A>CCA350071811FASTKD2c.547A>C (p.Asn183His)
n.605A>C
2g.206767240A>GCA350071812FASTKD2c.547A>G (p.Asn183Asp)
n.605A>G
COSMIC
2g.206767240A>TCA350071815FASTKD2c.547A>T (p.Asn183Tyr)
n.605A>T
2g.206767241A=CA1323320529FASTKD2c.548A= (p.Asn183=)
n.606A=
2g.206767241A>CCA350071816FASTKD2c.548A>C (p.Asn183Thr)
n.606A>C
2g.206767241A>GCA2074902FASTKD2c.548A>G (p.Asn183Ser)
n.606A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767241A>TCA350071819FASTKD2c.548A>T (p.Asn183Ile)
n.606A>T
2g.206767242C>ACA350071822FASTKD2c.549C>A (p.Asn183Lys)
n.607C>A
dbSNP
2g.206767242C=CA1323320530FASTKD2c.549C= (p.Asn183=)
n.607C=
2g.206767242C>GCA350071825FASTKD2c.549C>G (p.Asn183Lys)
n.607C>G
2g.206767242C>TCA2074903FASTKD2c.549C>T (p.Asn183=)
n.607C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767243T>ACA350071830FASTKD2c.550T>A (p.Tyr184Asn)
n.608T>A
dbSNP
2g.206767243T>CCA350071831FASTKD2c.550T>C (p.Tyr184His)
n.608T>C
dbSNP gnomAD v2 gnomAD v4
2g.206767243T>GCA350071833FASTKD2c.550T>G (p.Tyr184Asp)
n.608T>G
2g.206767243T=CA1323320531FASTKD2c.550T= (p.Tyr184=)
n.608T=
2g.206767244A>CCA350071843FASTKD2c.551A>C (p.Tyr184Ser)
n.609A>C
gnomAD v4
2g.206767244A>GCA350071844FASTKD2c.551A>G (p.Tyr184Cys)
n.609A>G
gnomAD v4
2g.206767244A>TCA350071841FASTKD2c.551A>T (p.Tyr184Phe)
n.609A>T
2g.206767245T>ACA350071845FASTKD2c.552T>A (p.Tyr184Ter)
n.610T>A
2g.206767245T>CCA431114649FASTKD2c.552T>C (p.Tyr184=)
n.610T>C
2g.206767245T>GCA350071846FASTKD2c.552T>G (p.Tyr184Ter)
n.610T>G
2g.206767247delCA2662829151FASTKD2c.554del (p.Phe185SerfsTer22)
n.612del
gnomAD v4
2g.206767246T>ACA350071848FASTKD2c.553T>A (p.Phe185Ile)
n.611T>A
2g.206767246T>CCA350071850FASTKD2c.553T>C (p.Phe185Leu)
n.611T>C
gnomAD v4
2g.206767246T>GCA350071858FASTKD2c.553T>G (p.Phe185Val)
n.611T>G
2g.206767247T>ACA350071864FASTKD2c.554T>A (p.Phe185Tyr)
n.612T>A
2g.206767247T>CCA350071861FASTKD2c.554T>C (p.Phe185Ser)
n.612T>C
COSMIC
2g.206767247T>GCA350071863FASTKD2c.554T>G (p.Phe185Cys)
n.612T>G
2g.206767247_206767257delinsTCACAGCAATGCA1323320532FASTKD2c.554_564delinsTCACAGCAATG (p.Phe185=)
n.612_622delinsTCACAGCAATG
2g.206767248C>ACA350071867FASTKD2c.555C>A (p.Phe185Leu)
n.613C>A
2g.206767248C>GCA350071868FASTKD2c.555C>G (p.Phe185Leu)
n.613C>G
2g.206767248C>TCA431114650FASTKD2c.555C>T (p.Phe185=)
n.613C>T
gnomAD v4
2g.206767248_206767257delCA1323320533FASTKD2c.555_564del (p.Thr186GlyfsTer18)
n.613_622del
dbSNP
2g.206767249A=CA1323320534FASTKD2c.556A= (p.Thr186=)
n.614A=
2g.206767249A>CCA350071871FASTKD2c.556A>C (p.Thr186Pro)
n.614A>C
dbSNP
2g.206767249A>GCA350071874FASTKD2c.556A>G (p.Thr186Ala)
n.614A>G
2g.206767249A>TCA350071875FASTKD2c.556A>T (p.Thr186Ser)
n.614A>T
2g.206767250C>ACA350071887FASTKD2c.557C>A (p.Thr186Lys)
n.615C>A
2g.206767250C>GCA350071882FASTKD2c.557C>G (p.Thr186Arg)
n.615C>G
2g.206767250C>TCA350071879FASTKD2c.557C>T (p.Thr186Ile)
n.615C>T
2g.206767251A=CA1323320535FASTKD2c.558A= (p.Thr186=)
n.616A=
2g.206767251A>CCA431114651FASTKD2c.558A>C (p.Thr186=)
n.616A>C
2g.206767251A>GCA2074904FASTKD2c.558A>G (p.Thr186=)
n.616A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767251A>TCA431114652FASTKD2c.558A>T (p.Thr186=)
n.616A>T
2g.206767252G>ACA350071901FASTKD2c.559G>A (p.Ala187Thr)
n.617G>A
COSMIC
2g.206767252G>CCA350071896FASTKD2c.559G>C (p.Ala187Pro)
n.617G>C
2g.206767252G>TCA350071899FASTKD2c.559G>T (p.Ala187Ser)
n.617G>T
2g.206767253C>ACA350071904FASTKD2c.560C>A (p.Ala187Glu)
n.618C>A
2g.206767253C=CA1323320536FASTKD2c.560C= (p.Ala187=)
n.618C=
2g.206767253C>GCA350071907FASTKD2c.560C>G (p.Ala187Gly)
n.618C>G
2g.206767253C>TCA350071915FASTKD2c.560C>T (p.Ala187Val)
n.618C>T
dbSNP gnomAD v2 gnomAD v4
2g.206767254A>CCA431114656FASTKD2c.561A>C (p.Ala187=)
n.619A>C
2g.206767254A>GCA431114657FASTKD2c.561A>G (p.Ala187=)
n.619A>G
gnomAD v4
2g.206767254A>TCA431114658FASTKD2c.561A>T (p.Ala187=)
n.619A>T
2g.206767255A=CA1323320537FASTKD2c.562A= (p.Met188=)
n.620A=
2g.206767255A>CCA350071918FASTKD2c.562A>C (p.Met188Leu)
n.620A>C
2g.206767255A>GCA63710076FASTKD2c.562A>G (p.Met188Val)
n.620A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767255A>TCA350071926FASTKD2c.562A>T (p.Met188Leu)
n.620A>T
gnomAD v4
2g.206767256T>ACA350071928FASTKD2c.563T>A (p.Met188Lys)
n.621T>A
2g.206767256T>CCA350071930FASTKD2c.563T>C (p.Met188Thr)
n.621T>C
2g.206767256T>GCA350071933FASTKD2c.563T>G (p.Met188Arg)
n.621T>G
2g.206767257G>ACA350071938FASTKD2c.564G>A (p.Met188Ile)
n.622G>A
2g.206767257G>CCA350071935FASTKD2c.564G>C (p.Met188Ile)
n.622G>C
2g.206767257G>TCA350071934FASTKD2c.564G>T (p.Met188Ile)
n.622G>T
COSMIC
2g.206767258T>ACA350071940FASTKD2c.565T>A (p.Trp189Arg)
n.623T>A
2g.206767258T>CCA350071943FASTKD2c.565T>C (p.Trp189Arg)
n.623T>C
gnomAD v4
2g.206767258T>GCA350071948FASTKD2c.565T>G (p.Trp189Gly)
n.623T>G
2g.206767259G>ACA350071951FASTKD2c.566G>A (p.Trp189Ter)
n.624G>A
gnomAD v4
2g.206767259G>CCA350071956FASTKD2c.566G>C (p.Trp189Ser)
n.624G>C
2g.206767259G>TCA350071959FASTKD2c.566G>T (p.Trp189Leu)
n.624G>T
2g.206767260G>ACA350071963FASTKD2c.567G>A (p.Trp189Ter)
n.625G>A
dbSNP
2g.206767260G>CCA350071965FASTKD2c.567G>C (p.Trp189Cys)
n.625G>C
gnomAD v4
2g.206767260G=CA1323320538FASTKD2c.567G= (p.Trp189=)
n.625G=
2g.206767260G>TCA350071969FASTKD2c.567G>T (p.Trp189Cys)
n.625G>T
2g.206767260_206767261delinsGACA1323320539FASTKD2c.567_568delinsGA (p.Trp189=)
n.625_626delinsGA
2g.206767261delCA1323320540FASTKD2c.568del (p.Thr190GlnfsTer17)
n.626del
dbSNP
2g.206767261A>CCA350071973FASTKD2c.568A>C (p.Thr190Pro)
n.626A>C
2g.206767261A>GCA350071976FASTKD2c.568A>G (p.Thr190Ala)
n.626A>G
2g.206767261A>TCA350071977FASTKD2c.568A>T (p.Thr190Ser)
n.626A>T
2g.206767262C>ACA350071989FASTKD2c.569C>A (p.Thr190Lys)
n.627C>A
2g.206767262C=CA1323320541FASTKD2c.569C= (p.Thr190=)
n.627C=
2g.206767262C>GCA350071988FASTKD2c.569C>G (p.Thr190Arg)
n.627C>G
dbSNP gnomAD v4
2g.206767262C>TCA350071984FASTKD2c.569C>T (p.Thr190Ile)
n.627C>T
2g.206767263A>CCA431114667FASTKD2c.570A>C (p.Thr190=)
n.628A>C
2g.206767263A>GCA431114668FASTKD2c.570A>G (p.Thr190=)
n.628A>G
2g.206767263A>TCA431114669FASTKD2c.570A>T (p.Thr190=)
n.628A>T
2g.206767264A=CA1323320542FASTKD2c.571A= (p.Ile191=)
n.629A=
2g.206767264A>CCA350071990FASTKD2c.571A>C (p.Ile191Leu)
n.629A>C
2g.206767264A>GCA350071991FASTKD2c.571A>G (p.Ile191Val)
n.629A>G
dbSNP gnomAD v2 gnomAD v4
2g.206767264A>TCA350071992FASTKD2c.571A>T (p.Ile191Phe)
n.629A>T
2g.206767265T>ACA350071995FASTKD2c.572T>A (p.Ile191Asn)
n.630T>A
2g.206767265T>CCA350071997FASTKD2c.572T>C (p.Ile191Thr)
n.630T>C
gnomAD v4 COSMIC
2g.206767265T>GCA350072001FASTKD2c.572T>G (p.Ile191Ser)
n.630T>G
2g.206767265_206767280delinsTTGCCAAAAGACTGTCCA1323320543FASTKD2c.572_587delinsTTGCCAAAAGACTGTC (p.Ile191=)
n.630_645delinsTTGCCAAAAGACTGTC
2g.206767266T>ACA431114673FASTKD2c.573T>A (p.Ile191=)
n.631T>A
2g.206767266T>CCA431114675FASTKD2c.573T>C (p.Ile191=)
n.631T>C
2g.206767266T>GCA350072004FASTKD2c.573T>G (p.Ile191Met)
n.631T>G
dbSNP
2g.206767266T=CA1323320544FASTKD2c.573T= (p.Ile191=)
n.631T=
2g.206767268_206767282delCA539388779FASTKD2c.575_589del (p.Ala192_Ser196del)
n.633_647del
dbSNP gnomAD v2 gnomAD v4
2g.206767267G>ACA350072009FASTKD2c.574G>A (p.Ala192Thr)
n.632G>A
2g.206767267G>CCA350072012FASTKD2c.574G>C (p.Ala192Pro)
n.632G>C
2g.206767267G=CA1323320545FASTKD2c.574G= (p.Ala192=)
n.632G=
2g.206767267G>TCA350072016FASTKD2c.574G>T (p.Ala192Ser)
n.632G>T
2g.206767267_206767268insTCA1323320546FASTKD2c.574_575insT (p.Ala192ValfsTer6)
n.632_633insT
dbSNP
2g.206767268C>ACA350072020FASTKD2c.575C>A (p.Ala192Asp)
n.633C>A
2g.206767268C>GCA350072024FASTKD2c.575C>G (p.Ala192Gly)
n.633C>G
2g.206767268C>TCA350072030FASTKD2c.575C>T (p.Ala192Val)
n.633C>T
gnomAD v4
2g.206767269C>ACA431114679FASTKD2c.576C>A (p.Ala192=)
n.634C>A
2g.206767269C>GCA431114681FASTKD2c.576C>G (p.Ala192=)
n.634C>G
2g.206767269C>TCA431114680FASTKD2c.576C>T (p.Ala192=)
n.634C>T
gnomAD v4
2g.206767269_206767270delinsCACA1323320547FASTKD2c.576_577delinsCA (p.Ala192=)
n.634_635delinsCA
2g.206767270A=CA1323320548FASTKD2c.577A= (p.Lys193=)
n.635A=
2g.206767270A>CCA350072044FASTKD2c.577A>C (p.Lys193Gln)
n.635A>C
2g.206767270A>GCA350072033FASTKD2c.577A>G (p.Lys193Glu)
n.635A>G
2g.206767270A>TCA350072042FASTKD2c.577A>T (p.Lys193Ter)
n.635A>T
2g.206767273delCA539388780FASTKD2c.580del (p.Arg194AspfsTer13)
n.638del
dbSNP gnomAD v2 gnomAD v4
2g.206767272_206767273delCA2577223898FASTKD2c.579_580del (p.Arg194ThrfsTer3)
n.637_638del
gnomAD v4
2g.206767270_206767271insCATTGCTGTGCA1323320550FASTKD2c.577_578insCATTGCTGTG (p.Lys193ThrfsTer4)
n.635_636insCATTGCTGTG
dbSNP
2g.206767271A=CA1323320549FASTKD2c.578A= (p.Lys193=)
n.636A=
2g.206767271A>CCA350072045FASTKD2c.578A>C (p.Lys193Thr)
n.636A>C
2g.206767271A>GCA2074905FASTKD2c.578A>G (p.Lys193Arg)
n.636A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767271A>TCA350072049FASTKD2c.578A>T (p.Lys193Ile)
n.636A>T
2g.206767272A>CCA350072054FASTKD2c.579A>C (p.Lys193Asn)
n.637A>C
2g.206767272A>GCA431114687FASTKD2c.579A>G (p.Lys193=)
n.637A>G
2g.206767272A>TCA350072056FASTKD2c.579A>T (p.Lys193Asn)
n.637A>T
2g.206767273A>CCA431114689FASTKD2c.580A>C (p.Arg194=)
n.638A>C
2g.206767273A>GCA350072060FASTKD2c.580A>G (p.Arg194Gly)
n.638A>G
2g.206767273A>TCA350072062FASTKD2c.580A>T (p.Arg194Ter)
n.638A>T
2g.206767274G>ACA350072064FASTKD2c.581G>A (p.Arg194Lys)
n.639G>A
2g.206767274G>CCA350072066FASTKD2c.581G>C (p.Arg194Thr)
n.639G>C
2g.206767274G=CA1323320551FASTKD2c.581G= (p.Arg194=)
n.639G=
2g.206767274G>TCA350072069FASTKD2c.581G>T (p.Arg194Ile)
n.639G>T
dbSNP
2g.206767275A>CCA350072077FASTKD2c.582A>C (p.Arg194Ser)
n.640A>C
2g.206767275A>GCA431114693FASTKD2c.582A>G (p.Arg194=)
n.640A>G
2g.206767275A>TCA350072095FASTKD2c.582A>T (p.Arg194Ser)
n.640A>T
2g.206767275_206767277delinsACTCA1323320552FASTKD2c.582_584delinsACT (p.Arg194=)
n.640_642delinsACT
2g.206767275_206767279delinsACTGTCA1323320553FASTKD2c.582_586delinsACTGT (p.Arg194=)
n.640_644delinsACTGT
2g.206767276C>ACA350072100FASTKD2c.583C>A (p.Leu195Met)
n.641C>A
gnomAD v4
2g.206767276C=CA1323320554FASTKD2c.583C= (p.Leu195=)
n.641C=
2g.206767276C>GCA63710104FASTKD2c.583C>G (p.Leu195Val)
n.641C>G
dbSNP gnomAD v3 gnomAD v4
2g.206767276C>TCA431114697FASTKD2c.583C>T (p.Leu195=)
n.641C>T
dbSNP gnomAD v2 gnomAD v4
2g.206767276_206767277delCA1323320556FASTKD2c.583_584del (p.Leu195ValfsTer2)
n.641_642del
dbSNP
2g.206767279_206767282delCA1323320555FASTKD2c.586_589del (p.Ser196MetfsTer10)
n.644_647del
dbSNP
2g.206767277T>ACA350072125FASTKD2c.584T>A (p.Leu195Gln)
n.642T>A
2g.206767277T>CCA350072137FASTKD2c.584T>C (p.Leu195Pro)
n.642T>C
2g.206767277T>GCA350072133FASTKD2c.584T>G (p.Leu195Arg)
n.642T>G
2g.206767278G>ACA431114699FASTKD2c.585G>A (p.Leu195=)
n.643G>A
2g.206767278G>CCA431114700FASTKD2c.585G>C (p.Leu195=)
n.643G>C
2g.206767278G>TCA431114703FASTKD2c.585G>T (p.Leu195=)
n.643G>T
2g.206767279T>ACA350072143FASTKD2c.586T>A (p.Ser196Thr)
n.644T>A
2g.206767279T>CCA350072162FASTKD2c.586T>C (p.Ser196Pro)
n.644T>C
2g.206767279T>GCA350072160FASTKD2c.586T>G (p.Ser196Ala)
n.644T>G

Number of alleles fetched