Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.15445672T>ACA338567831CTRCc.715T>A (p.Ser239Thr)
c.*169T>A (n.*169T>A)
n.479T>A
c.569T>A (p.Leu190His)
1g.15445672T>CCA338567832CTRCc.715T>C (p.Ser239Pro)
c.*169T>C (n.*169T>C)
n.479T>C
c.569T>C (p.Leu190Pro)
1g.15445672T>GCA338567833CTRCc.715T>G (p.Ser239Ala)
c.*169T>G (n.*169T>G)
n.479T>G
c.569T>G (p.Leu190Arg)
1g.15445673C>ACA338567836CTRCc.716C>A (p.Ser239Tyr)
c.*170C>A (n.*170C>A)
n.480C>A
c.570C>A (p.Leu190=)
1g.15445673C=CA1155328624CTRCc.716C= (p.Ser239=)
c.*170C= (n.*170C=)
n.480C=
c.570C= (p.Leu190=)
1g.15445673C>GCA338567834CTRCc.716C>G (p.Ser239Cys)
c.*170C>G (n.*170C>G)
n.480C>G
c.570C>G (p.Leu190=)
 dbSNP gnomAD v4
1g.15445673C>TCA338567835CTRCc.716C>T (p.Ser239Phe)
c.*170C>T (n.*170C>T)
n.480C>T
c.570C>T (p.Leu190=)
 ClinVar dbSNP
1g.15445674C>ACA416207381CTRCc.717C>A (p.Ser239=)
c.*171C>A (n.*171C>A)
n.481C>A
c.571C>A (p.Pro191Thr)
1g.15445674C>GCA416207382CTRCc.717C>G (p.Ser239=)
c.*171C>G (n.*171C>G)
n.481C>G
c.571C>G (p.Pro191Ala)
1g.15445674C>TCA416207383CTRCc.717C>T (p.Ser239=)
c.*171C>T (n.*171C>T)
n.481C>T
c.571C>T (p.Pro191Ser)
 ClinVar gnomAD v4
1g.15445675C>ACA416207384CTRCc.718C>A (p.Arg240=)
c.*172C>A (n.*172C>A)
n.482C>A
c.572C>A (p.Pro191Gln)
1g.15445675C=CA1143546641CTRCc.718C= (p.Arg240=)
c.*172C= (n.*172C=)
n.482C=
c.572C= (p.Pro191=)
1g.15445675C>GCA338567837CTRCc.718C>G (p.Arg240Gly)
c.*172C>G (n.*172C>G)
n.482C>G
c.572C>G (p.Pro191Arg)
1g.15445675C>TCA613449CTRCc.718C>T (p.Arg240Trp)
c.*172C>T (n.*172C>T)
n.482C>T
c.572C>T (p.Pro191Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445676G>ACA613450CTRCc.719G>A (p.Arg240Gln)
c.*173G>A (n.*173G>A)
n.483G>A
c.573G>A (p.Pro191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445676G>CCA338567838CTRCc.719G>C (p.Arg240Pro)
c.*173G>C (n.*173G>C)
n.483G>C
c.573G>C (p.Pro191=)
 dbSNP gnomAD v2
1g.15445676G=CA1155328633CTRCc.719G= (p.Arg240=)
c.*173G= (n.*173G=)
n.483G=
c.573G= (p.Pro191=)
1g.15445676G>TCA338567839CTRCc.719G>T (p.Arg240Leu)
c.*173G>T (n.*173G>T)
n.483G>T
c.573G>T (p.Pro191=)
1g.15445677G>ACA416207385CTRCc.720G>A (p.Arg240=)
c.*174G>A (n.*174G>A)
n.484G>A
c.574G>A (p.Ala192Thr)
1g.15445677G>CCA416207386CTRCc.720G>C (p.Arg240=)
c.*174G>C (n.*174G>C)
n.484G>C
c.574G>C (p.Ala192Pro)
1g.15445677G>TCA416207387CTRCc.720G>T (p.Arg240=)
c.*174G>T (n.*174G>T)
n.484G>T
c.574G>T (p.Ala192Ser)
1g.15445679_15445686dupCA2643487264CTRCc.722_729dup (p.Asn244GlyfsTer10)
c.*176_*183dup (n.*176_*183dup)
n.486_493dup
c.576_583dup (p.Gln195ArgfsTer29)
 gnomAD v4
1g.15445678C>ACA613451CTRCc.721C>A (p.Arg241=)
c.*175C>A (n.*175C>A)
n.485C>A
c.575C>A (p.Ala192Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445678C=CA1155328642CTRCc.721C= (p.Arg241=)
c.*175C= (n.*175C=)
n.485C=
c.575C= (p.Ala192=)
1g.15445678C>GCA338567840CTRCc.721C>G (p.Arg241Gly)
c.*175C>G (n.*175C>G)
n.485C>G
c.575C>G (p.Ala192Gly)
 ClinVar
1g.15445678C>TCA613453CTRCc.721C>T (p.Arg241Trp)
c.*175C>T (n.*175C>T)
n.485C>T
c.575C>T (p.Ala192Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.15445678_15445679delinsCGCA1155328643CTRCc.721_722delinsCG (p.Arg241=)
c.*175_*176delinsCG (n.*175_*176delinsCG)
n.485_486delinsCG
c.575_576delinsCG (p.Ala192=)
1g.15445679G>ACA613454CTRCc.722G>A (p.Arg241Gln)
c.*176G>A (n.*176G>A)
n.486G>A
c.576G>A (p.Ala192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445679G>CCA338567841CTRCc.722G>C (p.Arg241Pro)
c.*176G>C (n.*176G>C)
n.486G>C
c.576G>C (p.Ala192=)
1g.15445679G=CA1155328654CTRCc.722G= (p.Arg241=)
c.*176G= (n.*176G=)
n.486G=
c.576G= (p.Ala192=)
1g.15445679G>TCA338567842CTRCc.722G>T (p.Arg241Leu)
c.*176G>T (n.*176G>T)
n.486G>T
c.576G>T (p.Ala192=)
 ClinVar
1g.15445682dupCA1155328652CTRCc.725dup (p.Cys243LeufsTer?)
c.*179dup (n.*179dup)
n.489dup
c.579dup (p.Leu194AlafsTer9)
 dbSNP gnomAD v4
1g.15445682delCA613452CTRCc.725del (p.Gly242AlafsTer9)
c.*179del (n.*179del)
n.489del
c.579del (p.Leu194CysfsTer27)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445680G>ACA416207388CTRCc.723G>A (p.Arg241=)
c.*177G>A (n.*177G>A)
n.487G>A
c.577G>A (p.Gly193Arg)
1g.15445680G>CCA416207389CTRCc.723G>C (p.Arg241=)
c.*177G>C (n.*177G>C)
n.487G>C
c.577G>C (p.Gly193Arg)
1g.15445680G>TCA416207390CTRCc.723G>T (p.Arg241=)
c.*177G>T (n.*177G>T)
n.487G>T
c.577G>T (p.Gly193Trp)
1g.15445681G>ACA338567844CTRCc.724G>A (p.Gly242Ser)
c.*178G>A (n.*178G>A)
n.488G>A
c.578G>A (p.Gly193Glu)
 COSMIC
1g.15445681G>CCA338567845CTRCc.724G>C (p.Gly242Arg)
c.*178G>C (n.*178G>C)
n.488G>C
c.578G>C (p.Gly193Ala)
1g.15445681G>TCA338567843CTRCc.724G>T (p.Gly242Cys)
c.*178G>T (n.*178G>T)
n.488G>T
c.578G>T (p.Gly193Val)
1g.15445682G>ACA338567846CTRCc.725G>A (p.Gly242Asp)
c.*179G>A (n.*179G>A)
n.489G>A
c.579G>A (p.Gly193=)
 ClinVar
1g.15445682G>CCA338567847CTRCc.725G>C (p.Gly242Ala)
c.*179G>C (n.*179G>C)
n.489G>C
c.579G>C (p.Gly193=)
1g.15445682G>TCA338567848CTRCc.725G>T (p.Gly242Val)
c.*179G>T (n.*179G>T)
n.489G>T
c.579G>T (p.Gly193=)
1g.15445683C>ACA416207391CTRCc.726C>A (p.Gly242=)
c.*180C>A (n.*180C>A)
n.490C>A
c.580C>A (p.Leu194Met)
1g.15445683C>GCA416207392CTRCc.726C>G (p.Gly242=)
c.*180C>G (n.*180C>G)
n.490C>G
c.580C>G (p.Leu194Val)
1g.15445683C>TCA416207393CTRCc.726C>T (p.Gly242=)
c.*180C>T (n.*180C>T)
n.490C>T
c.580C>T (p.Leu194=)
1g.15445684T>ACA338567849CTRCc.727T>A (p.Cys243Ser)
c.*181T>A (n.*181T>A)
n.491T>A
c.581T>A (p.Leu194Gln)
1g.15445684T>CCA338567850CTRCc.727T>C (p.Cys243Arg)
c.*181T>C (n.*181T>C)
n.491T>C
c.581T>C (p.Leu194Pro)
1g.15445684T>GCA338567851CTRCc.727T>G (p.Cys243Gly)
c.*181T>G (n.*181T>G)
n.491T>G
c.581T>G (p.Leu194Arg)
1g.15445685G>ACA338567854CTRCc.728G>A (p.Cys243Tyr)
c.*182G>A (n.*182G>A)
n.492G>A
c.582G>A (p.Leu194=)
1g.15445685G>CCA338567852CTRCc.728G>C (p.Cys243Ser)
c.*182G>C (n.*182G>C)
n.492G>C
c.582G>C (p.Leu194=)
1g.15445685G>TCA338567853CTRCc.728G>T (p.Cys243Phe)
c.*182G>T (n.*182G>T)
n.492G>T
c.582G>T (p.Leu194=)
1g.15445686C>ACA338567855CTRCc.729C>A (p.Cys243Ter)
c.*183C>A (n.*183C>A)
n.493C>A
c.583C>A (p.Gln195Lys)
1g.15445686C>GCA338567856CTRCc.729C>G (p.Cys243Trp)
c.*183C>G (n.*183C>G)
n.493C>G
c.583C>G (p.Gln195Glu)
1g.15445686C>TCA416207394CTRCc.729C>T (p.Cys243=)
c.*183C>T (n.*183C>T)
n.493C>T
c.583C>T (p.Gln195Ter)
1g.15445687A=CA1155328658CTRCc.730A= (p.Asn244=)
c.*184A= (n.*184A=)
n.494A=
c.584A= (p.Gln195=)
1g.15445687A>CCA338567857CTRCc.730A>C (p.Asn244His)
c.*184A>C (n.*184A>C)
n.494A>C
c.584A>C (p.Gln195Pro)
 ClinVar dbSNP gnomAD v4
1g.15445687A>GCA338567858CTRCc.730A>G (p.Asn244Asp)
c.*184A>G (n.*184A>G)
n.494A>G
c.584A>G (p.Gln195Arg)
1g.15445687A>TCA338567859CTRCc.730A>T (p.Asn244Tyr)
c.*184A>T (n.*184A>T)
n.494A>T
c.584A>T (p.Gln195Leu)
1g.15445687_15445711delinsAACACCCGCAAGAAGCCGGTAGTCTCA1155328657CTRCc.730_754delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Asn244=)
c.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT (n.*184_*208delinsAACACCCGCAAGAAGCCGGTAGTCT)
n.494_518delinsAACACCCGCAAGAAGCCGGTAGTCT
c.584_608delinsAACACCCGCAAGAAGCCGGTAGTCT (p.Gln195=)
1g.15445688A=CA1155328666CTRCc.731A= (p.Asn244=)
c.*185A= (n.*185A=)
n.495A=
c.585A= (p.Gln195=)
1g.15445688A>CCA338567860CTRCc.731A>C (p.Asn244Thr)
c.*185A>C (n.*185A>C)
n.495A>C
c.585A>C (p.Gln195His)
1g.15445688A>GCA338567861CTRCc.731A>G (p.Asn244Ser)
c.*185A>G (n.*185A>G)
n.495A>G
c.585A>G (p.Gln195=)
 gnomAD v4
1g.15445688A>TCA613455CTRCc.731A>T (p.Asn244Ile)
c.*185A>T (n.*185A>T)
n.495A>T
c.585A>T (p.Gln195His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445688_15445718delinsACACCCGCAAGAAGCCGGTAGTCTACACCCGCA1144232719CTRCc.731_761delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Asn244=)
c.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (n.*185_*215delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG)
n.495_525delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG
c.585_615delinsACACCCGCAAGAAGCCGGTAGTCTACACCCG (p.Gln195=)
1g.15445695_15445718delCA345648CTRCc.738_761del (p.Lys247_Arg254del)
c.*192_*215del (n.*192_*215del)
n.502_525del
c.592_615del (p.Gln198_Pro205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445689C>ACA338567862CTRCc.732C>A (p.Asn244Lys)
c.*186C>A (n.*186C>A)
n.496C>A
c.586C>A (p.His196Asn)
1g.15445689C>GCA338567863CTRCc.732C>G (p.Asn244Lys)
c.*186C>G (n.*186C>G)
n.496C>G
c.586C>G (p.His196Asp)
1g.15445689C>TCA416207395CTRCc.732C>T (p.Asn244=)
c.*186C>T (n.*186C>T)
n.496C>T
c.586C>T (p.His196Tyr)
1g.15445690A>CCA338567864CTRCc.733A>C (p.Thr245Pro)
c.*187A>C (n.*187A>C)
n.497A>C
c.587A>C (p.His196Pro)
1g.15445690A>GCA338567865CTRCc.733A>G (p.Thr245Ala)
c.*187A>G (n.*187A>G)
n.497A>G
c.587A>G (p.His196Arg)
1g.15445690A>TCA338567866CTRCc.733A>T (p.Thr245Ser)
c.*187A>T (n.*187A>T)
n.497A>T
c.587A>T (p.His196Leu)
1g.15445691C>ACA338567867CTRCc.734C>A (p.Thr245Asn)
c.*188C>A (n.*188C>A)
n.498C>A
c.588C>A (p.His196Gln)
 gnomAD v4
1g.15445691C=CA1155328673CTRCc.734C= (p.Thr245=)
c.*188C= (n.*188C=)
n.498C=
c.588C= (p.His196=)
1g.15445691C>GCA338567868CTRCc.734C>G (p.Thr245Ser)
c.*188C>G (n.*188C>G)
n.498C>G
c.588C>G (p.His196Gln)
1g.15445691C>TCA338567869CTRCc.734C>T (p.Thr245Ile)
c.*188C>T (n.*188C>T)
n.498C>T
c.588C>T (p.His196=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.15445692C>ACA416207398CTRCc.735C>A (p.Thr245=)
c.*189C>A (n.*189C>A)
n.499C>A
c.589C>A (p.Pro197Thr)
1g.15445692C>GCA416207397CTRCc.735C>G (p.Thr245=)
c.*189C>G (n.*189C>G)
n.499C>G
c.589C>G (p.Pro197Ala)
1g.15445692C>TCA416207396CTRCc.735C>T (p.Thr245=)
c.*189C>T (n.*189C>T)
n.499C>T
c.589C>T (p.Pro197Ser)
 ClinVar
1g.15445693C>ACA338567870CTRCc.736C>A (p.Arg246Ser)
c.*190C>A (n.*190C>A)
n.500C>A
c.590C>A (p.Pro197Gln)
1g.15445693C=CA1143415653CTRCc.736C= (p.Arg246=)
c.*190C= (n.*190C=)
n.500C=
c.590C= (p.Pro197=)
1g.15445693C>GCA338567871CTRCc.736C>G (p.Arg246Gly)
c.*190C>G (n.*190C>G)
n.500C>G
c.590C>G (p.Pro197Arg)
 ClinVar dbSNP gnomAD v4
1g.15445693C>TCA613456CTRCc.736C>T (p.Arg246Cys)
c.*190C>T (n.*190C>T)
n.500C>T
c.590C>T (p.Pro197Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445694G>ACA613457CTRCc.737G>A (p.Arg246His)
c.*191G>A (n.*191G>A)
n.501G>A
c.591G>A (p.Pro197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445694G>CCA338567872CTRCc.737G>C (p.Arg246Pro)
c.*191G>C (n.*191G>C)
n.501G>C
c.591G>C (p.Pro197=)
 dbSNP
1g.15445694G=CA1142207989CTRCc.737G= (p.Arg246=)
c.*191G= (n.*191G=)
n.501G=
c.591G= (p.Pro197=)
1g.15445694G>TCA613458CTRCc.737G>T (p.Arg246Leu)
c.*191G>T (n.*191G>T)
n.501G>T
c.591G>T (p.Pro197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445695C>ACA416207399CTRCc.738C>A (p.Arg246=)
c.*192C>A (n.*192C>A)
n.502C>A
c.592C>A (p.Gln198Lys)
 ClinVar
1g.15445695C>GCA416207400CTRCc.738C>G (p.Arg246=)
c.*192C>G (n.*192C>G)
n.502C>G
c.592C>G (p.Gln198Glu)
1g.15445695C>TCA416207401CTRCc.738C>T (p.Arg246=)
c.*192C>T (n.*192C>T)
n.502C>T
c.592C>T (p.Gln198Ter)
1g.15445696A=CA1155328694CTRCc.739A= (p.Lys247=)
c.*193A= (n.*193A=)
n.503A=
c.593A= (p.Gln198=)
1g.15445696A>CCA338567874CTRCc.739A>C (p.Lys247Gln)
c.*193A>C (n.*193A>C)
n.503A>C
c.593A>C (p.Gln198Pro)
 dbSNP gnomAD v3 gnomAD v4
1g.15445696A>GCA338567873CTRCc.739A>G (p.Lys247Glu)
c.*193A>G (n.*193A>G)
n.503A>G
c.593A>G (p.Gln198Arg)
 gnomAD v4
1g.15445696A>TCA338567875CTRCc.739A>T (p.Lys247Ter)
c.*193A>T (n.*193A>T)
n.503A>T
c.593A>T (p.Gln198Leu)
1g.15445697A=CA1155328697CTRCc.740A= (p.Lys247=)
c.*194A= (n.*194A=)
n.504A=
c.594A= (p.Gln198=)
1g.15445697A>CCA338567876CTRCc.740A>C (p.Lys247Thr)
c.*194A>C (n.*194A>C)
n.504A>C
c.594A>C (p.Gln198His)
1g.15445697A>GCA18253809CTRCc.740A>G (p.Lys247Arg)
c.*194A>G (n.*194A>G)
n.504A>G
c.594A>G (p.Gln198=)
 dbSNP
1g.15445697A>TCA338567877CTRCc.740A>T (p.Lys247Met)
c.*194A>T (n.*194A>T)
n.504A>T
c.594A>T (p.Gln198His)
1g.15445698G>ACA416207403CTRCc.741G>A (p.Lys247=)
c.*195G>A (n.*195G>A)
n.505G>A
c.595G>A (p.Glu199Lys)
 dbSNP gnomAD v2 gnomAD v4
1g.15445698G>CCA338567878CTRCc.741G>C (p.Lys247Asn)
c.*195G>C (n.*195G>C)
n.505G>C
c.595G>C (p.Glu199Gln)
1g.15445698G=CA1155328701CTRCc.741G= (p.Lys247=)
c.*195G= (n.*195G=)
n.505G=
c.595G= (p.Glu199=)
1g.15445698G>TCA338567879CTRCc.741G>T (p.Lys247Asn)
c.*195G>T (n.*195G>T)
n.505G>T
c.595G>T (p.Glu199Ter)
1g.15445699A>CCA338567880CTRCc.742A>C (p.Lys248Gln)
c.*196A>C (n.*196A>C)
n.506A>C
c.596A>C (p.Glu199Ala)
1g.15445699A>GCA338567881CTRCc.742A>G (p.Lys248Glu)
c.*196A>G (n.*196A>G)
n.506A>G
c.596A>G (p.Glu199Gly)
 ClinVar
1g.15445699A>TCA338567882CTRCc.742A>T (p.Lys248Ter)
c.*196A>T (n.*196A>T)
n.506A>T
c.596A>T (p.Glu199Val)
1g.15445700A>CCA338567883CTRCc.743A>C (p.Lys248Thr)
c.*197A>C (n.*197A>C)
n.507A>C
c.597A>C (p.Glu199Asp)
1g.15445700A>GCA338567884CTRCc.743A>G (p.Lys248Arg)
c.*197A>G (n.*197A>G)
n.507A>G
c.597A>G (p.Glu199=)
 ClinVar gnomAD v4
1g.15445700A>TCA338567885CTRCc.743A>T (p.Lys248Met)
c.*197A>T (n.*197A>T)
n.507A>T
c.597A>T (p.Glu199Asp)
1g.15445701G>ACA416207406CTRCc.744G>A (p.Lys248=)
c.*198G>A (n.*198G>A)
n.508G>A
c.598G>A (p.Ala200Thr)
 ClinVar gnomAD v4
1g.15445701G>CCA338567886CTRCc.744G>C (p.Lys248Asn)
c.*198G>C (n.*198G>C)
n.508G>C
c.598G>C (p.Ala200Pro)
1g.15445701G>TCA338567887CTRCc.744G>T (p.Lys248Asn)
c.*198G>T (n.*198G>T)
n.508G>T
c.598G>T (p.Ala200Ser)
1g.15445702C>ACA338567890CTRCc.745C>A (p.Pro249Thr)
c.*199C>A (n.*199C>A)
n.509C>A
c.599C>A (p.Ala200Asp)
1g.15445702C>GCA338567889CTRCc.745C>G (p.Pro249Ala)
c.*199C>G (n.*199C>G)
n.509C>G
c.599C>G (p.Ala200Gly)
1g.15445702C>TCA338567888CTRCc.745C>T (p.Pro249Ser)
c.*199C>T (n.*199C>T)
n.509C>T
c.599C>T (p.Ala200Val)
 ClinVar gnomAD v4
1g.15445703C>ACA338567891CTRCc.746C>A (p.Pro249Gln)
c.*200C>A (n.*200C>A)
n.510C>A
c.600C>A (p.Ala200=)
1g.15445703C=CA1141874374CTRCc.746C= (p.Pro249=)
c.*200C= (n.*200C=)
n.510C=
c.600C= (p.Ala200=)
1g.15445703C>GCA338567892CTRCc.746C>G (p.Pro249Arg)
c.*200C>G (n.*200C>G)
n.510C>G
c.600C>G (p.Ala200=)
 gnomAD v4
1g.15445703C>TCA613459CTRCc.746C>T (p.Pro249Leu)
c.*200C>T (n.*200C>T)
n.510C>T
c.600C>T (p.Ala200=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445704G>ACA613460CTRCc.747G>A (p.Pro249=)
c.*201G>A (n.*201G>A)
n.511G>A
c.601G>A (p.Gly201Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445704G>CCA416207410CTRCc.747G>C (p.Pro249=)
c.*201G>C (n.*201G>C)
n.511G>C
c.601G>C (p.Gly201Arg)
1g.15445704G=CA1142342038CTRCc.747G= (p.Pro249=)
c.*201G= (n.*201G=)
n.511G=
c.601G= (p.Gly201=)
1g.15445704G>TCA416207412CTRCc.747G>T (p.Pro249=)
c.*201G>T (n.*201G>T)
n.511G>T
c.601G>T (p.Gly201Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445705G>ACA338567893CTRCc.748G>A (p.Val250Ile)
c.*202G>A (n.*202G>A)
n.512G>A
c.602G>A (p.Gly201Asp)
1g.15445705G>CCA338567894CTRCc.748G>C (p.Val250Leu)
c.*202G>C (n.*202G>C)
n.512G>C
c.602G>C (p.Gly201Ala)
1g.15445705G>TCA338567895CTRCc.748G>T (p.Val250Leu)
c.*202G>T (n.*202G>T)
n.512G>T
c.602G>T (p.Gly201Val)
 COSMIC
1g.15445706T>ACA338567896CTRCc.749T>A (p.Val250Glu)
c.*203T>A (n.*203T>A)
n.513T>A
c.603T>A (p.Gly201=)
1g.15445706T>CCA338567897CTRCc.749T>C (p.Val250Ala)
c.*203T>C (n.*203T>C)
n.513T>C
c.603T>C (p.Gly201=)
1g.15445706T>GCA338567898CTRCc.749T>G (p.Val250Gly)
c.*203T>G (n.*203T>G)
n.513T>G
c.603T>G (p.Gly201=)
1g.15445707A>CCA416207414CTRCc.750A>C (p.Val250=)
c.*204A>C (n.*204A>C)
n.514A>C
c.604A>C (p.Ser202Arg)
1g.15445707A>GCA416207415CTRCc.750A>G (p.Val250=)
c.*204A>G (n.*204A>G)
n.514A>G
c.604A>G (p.Ser202Gly)
 ClinVar
1g.15445707A>TCA416207416CTRCc.750A>T (p.Val250=)
c.*204A>T (n.*204A>T)
n.514A>T
c.604A>T (p.Ser202Cys)
 ClinVar
1g.15445708G>ACA338567899CTRCc.751G>A (p.Val251Ile)
c.*205G>A (n.*205G>A)
n.515G>A
c.605G>A (p.Ser202Asn)
1g.15445708G>CCA338567900CTRCc.751G>C (p.Val251Leu)
c.*205G>C (n.*205G>C)
n.515G>C
c.605G>C (p.Ser202Thr)
 dbSNP
1g.15445708G=CA1155328716CTRCc.751G= (p.Val251=)
c.*205G= (n.*205G=)
n.515G=
c.605G= (p.Ser202=)
1g.15445708G>TCA338567901CTRCc.751G>T (p.Val251Phe)
c.*205G>T (n.*205G>T)
n.515G>T
c.605G>T (p.Ser202Ile)
1g.15445709T>ACA338567903CTRCc.752T>A (p.Val251Asp)
c.*206T>A (n.*206T>A)
n.516T>A
c.606T>A (p.Ser202Arg)
1g.15445709T>CCA338567904CTRCc.752T>C (p.Val251Ala)
c.*206T>C (n.*206T>C)
n.516T>C
c.606T>C (p.Ser202=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445709T>GCA338567902CTRCc.752T>G (p.Val251Gly)
c.*206T>G (n.*206T>G)
n.516T>G
c.606T>G (p.Ser202Arg)
1g.15445709T=CA1155328726CTRCc.752T= (p.Val251=)
c.*206T= (n.*206T=)
n.516T=
c.606T= (p.Ser202=)
1g.15445710_15445711insAACACCCGCAAGAAGCCGGTACTCCA521458357CTRCc.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)
c.*207_*208insAACACCCGCAAGAAGCCGGTACTC (n.*207_*208insAACACCCGCAAGAAGCCGGTACTC)
n.517_518insAACACCCGCAAGAAGCCGGTACTC
c.607_608insAACACCCGCAAGAAGCCGGTACTC (p.Ser202_Leu203insGlnHisProGlnGluAlaGlyThr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445710C>ACA416207418CTRCc.753C>A (p.Val251=)
c.*207C>A (n.*207C>A)
n.517C>A
c.607C>A (p.Leu203Ile)
 ClinVar
1g.15445710C=CA1155328731CTRCc.753C= (p.Val251=)
c.*207C= (n.*207C=)
n.517C=
c.607C= (p.Leu203=)
1g.15445710C>GCA416207419CTRCc.753C>G (p.Val251=)
c.*207C>G (n.*207C>G)
n.517C>G
c.607C>G (p.Leu203Val)
 ClinVar dbSNP
1g.15445710C>TCA416207420CTRCc.753C>T (p.Val251=)
c.*207C>T (n.*207C>T)
n.517C>T
c.607C>T (p.Leu203=)
1g.15445711T>ACA338567905CTRCc.754T>A (p.Tyr252Asn)
c.*208T>A (n.*208T>A)
n.518T>A
c.608T>A (p.Leu203Gln)
 dbSNP
1g.15445711T>CCA338567906CTRCc.754T>C (p.Tyr252His)
c.*208T>C (n.*208T>C)
n.518T>C
c.608T>C (p.Leu203Pro)
1g.15445711T>GCA338567907CTRCc.754T>G (p.Tyr252Asp)
c.*208T>G (n.*208T>G)
n.518T>G
c.608T>G (p.Leu203Arg)
1g.15445711T=CA1155328734CTRCc.754T= (p.Tyr252=)
c.*208T= (n.*208T=)
n.518T=
c.608T= (p.Leu203=)
1g.15445712A=CA1141324183CTRCc.755A= (p.Tyr252=)
c.*209A= (n.*209A=)
n.519A=
c.609A= (p.Leu203=)
1g.15445712A>CCA338567908CTRCc.755A>C (p.Tyr252Ser)
c.*209A>C (n.*209A>C)
n.519A>C
c.609A>C (p.Leu203=)
1g.15445712A>GCA338567909CTRCc.755A>G (p.Tyr252Cys)
c.*209A>G (n.*209A>G)
n.519A>G
c.609A>G (p.Leu203=)
1g.15445712A>TCA18253817CTRCc.755A>T (p.Tyr252Phe)
c.*209A>T (n.*209A>T)
n.519A>T
c.609A>T (p.Leu203=)
 dbSNP
1g.15445713C>ACA338567910CTRCc.756C>A (p.Tyr252Ter)
c.*210C>A (n.*210C>A)
n.520C>A
c.610C>A (p.His204Asn)
1g.15445713C>GCA338567911CTRCc.756C>G (p.Tyr252Ter)
c.*210C>G (n.*210C>G)
n.520C>G
c.610C>G (p.His204Asp)
1g.15445713C>TCA416207422CTRCc.756C>T (p.Tyr252=)
c.*210C>T (n.*210C>T)
n.520C>T
c.610C>T (p.His204Tyr)
 ClinVar
1g.15445714A=CA1155328737CTRCc.757A= (p.Thr253=)
c.*211A= (n.*211A=)
n.521A=
c.611A= (p.His204=)
1g.15445714A>CCA338567912CTRCc.757A>C (p.Thr253Pro)
c.*211A>C (n.*211A>C)
n.521A>C
c.611A>C (p.His204Pro)
 dbSNP
1g.15445714A>GCA613461CTRCc.757A>G (p.Thr253Ala)
c.*211A>G (n.*211A>G)
n.521A>G
c.611A>G (p.His204Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445714A>TCA338567913CTRCc.757A>T (p.Thr253Ser)
c.*211A>T (n.*211A>T)
n.521A>T
c.611A>T (p.His204Leu)
1g.15445715C>ACA338567918CTRCc.758C>A (p.Thr253Asn)
c.*212C>A (n.*212C>A)
n.522C>A
c.612C>A (p.His204Gln)
 ClinVar gnomAD v4
1g.15445715C=CA1155328740CTRCc.758C= (p.Thr253=)
c.*212C= (n.*212C=)
n.522C=
c.612C= (p.His204=)
1g.15445715C>GCA338567915CTRCc.758C>G (p.Thr253Ser)
c.*212C>G (n.*212C>G)
n.522C>G
c.612C>G (p.His204Gln)
1g.15445715C>TCA613462CTRCc.758C>T (p.Thr253Ile)
c.*212C>T (n.*212C>T)
n.522C>T
c.612C>T (p.His204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445716C>ACA416207423CTRCc.759C>A (p.Thr253=)
c.*213C>A (n.*213C>A)
n.523C>A
c.613C>A (p.Pro205Thr)
1g.15445716C=CA1155328746CTRCc.759C= (p.Thr253=)
c.*213C= (n.*213C=)
n.523C=
c.613C= (p.Pro205=)
1g.15445716C>GCA416207424CTRCc.759C>G (p.Thr253=)
c.*213C>G (n.*213C>G)
n.523C>G
c.613C>G (p.Pro205Ala)
1g.15445716C>TCA416207425CTRCc.759C>T (p.Thr253=)
c.*213C>T (n.*213C>T)
n.523C>T
c.613C>T (p.Pro205Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.15445717C>ACA416207426CTRCc.760C>A (p.Arg254=)
c.*214C>A (n.*214C>A)
n.524C>A
c.614C>A (p.Pro205Gln)
1g.15445717C=CA1141580597CTRCc.760C= (p.Arg254=)
c.*214C= (n.*214C=)
n.524C=
c.614C= (p.Pro205=)
1g.15445717C>GCA338567920CTRCc.760C>G (p.Arg254Gly)
c.*214C>G (n.*214C>G)
n.524C>G
c.614C>G (p.Pro205Arg)
1g.15445717C>TCA119351CTRCc.760C>T (p.Arg254Trp)
c.*214C>T (n.*214C>T)
n.524C>T
c.614C>T (p.Pro205Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445718G>ACA613463CTRCc.761G>A (p.Arg254Gln)
c.*215G>A (n.*215G>A)
n.525G>A
c.615G>A (p.Pro205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445718G>CCA613464CTRCc.761G>C (p.Arg254Pro)
c.*215G>C (n.*215G>C)
n.525G>C
c.615G>C (p.Pro205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445718G=CA1155328764CTRCc.761G= (p.Arg254=)
c.*215G= (n.*215G=)
n.525G=
c.615G= (p.Pro205=)
1g.15445718G>TCA338567926CTRCc.761G>T (p.Arg254Leu)
c.*215G>T (n.*215G>T)
n.525G>T
c.615G>T (p.Pro205=)
1g.15445720delCA2500775821CTRCc.763del (p.Val255CysfsTer?)
c.*217del (n.*217del)
n.527del
c.617del (p.Gly206ValfsTer15)
 gnomAD v4
1g.15445719G>ACA416207430CTRCc.762G>A (p.Arg254=)
c.*216G>A (n.*216G>A)
n.526G>A
c.616G>A (p.Gly206Ser)
 ClinVar
1g.15445719G>CCA416207431CTRCc.762G>C (p.Arg254=)
c.*216G>C (n.*216G>C)
n.526G>C
c.616G>C (p.Gly206Arg)
 ClinVar
1g.15445719G=CA1149038692CTRCc.762G= (p.Arg254=)
c.*216G= (n.*216G=)
n.526G=
c.616G= (p.Gly206=)
1g.15445719G>TCA613465CTRCc.762G>T (p.Arg254=)
c.*216G>T (n.*216G>T)
n.526G>T
c.616G>T (p.Gly206Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445720G>ACA18253843CTRCc.763G>A (p.Val255Met)
c.*217G>A (n.*217G>A)
n.527G>A
c.617G>A (p.Gly206Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445720G>CCA338567934CTRCc.763G>C (p.Val255Leu)
c.*217G>C (n.*217G>C)
n.527G>C
c.617G>C (p.Gly206Ala)
 ClinVar
1g.15445720G=CA1141199444CTRCc.763G= (p.Val255=)
c.*217G= (n.*217G=)
n.527G=
c.617G= (p.Gly206=)
1g.15445720G>TCA338567935CTRCc.763G>T (p.Val255Leu)
c.*217G>T (n.*217G>T)
n.527G>T
c.617G>T (p.Gly206Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445721T>ACA338567938CTRCc.764T>A (p.Val255Glu)
c.*218T>A (n.*218T>A)
n.528T>A
c.618T>A (p.Gly206=)
 ClinVar dbSNP gnomAD v4
1g.15445721T>CCA338567939CTRCc.764T>C (p.Val255Ala)
c.*218T>C (n.*218T>C)
n.528T>C
c.618T>C (p.Gly206=)
1g.15445721T>GCA338567942CTRCc.764T>G (p.Val255Gly)
c.*218T>G (n.*218T>G)
n.528T>G
c.618T>G (p.Gly206=)
 ClinVar dbSNP
1g.15445721T=CA1155328779CTRCc.764T= (p.Val255=)
c.*218T= (n.*218T=)
n.528T=
c.618T= (p.Gly206=)
1g.15445722G>ACA416207433CTRCc.765G>A (p.Val255=)
c.*219G>A (n.*219G>A)
n.529G>A
c.619G>A (p.Val207Ile)
 ClinVar dbSNP gnomAD v4
1g.15445722G>CCA416207435CTRCc.765G>C (p.Val255=)
c.*219G>C (n.*219G>C)
n.529G>C
c.619G>C (p.Val207Leu)
1g.15445722G=CA1155328781CTRCc.765G= (p.Val255=)
c.*219G= (n.*219G=)
n.529G=
c.619G= (p.Val207=)
1g.15445722G>TCA416207434CTRCc.765G>T (p.Val255=)
c.*219G>T (n.*219G>T)
n.529G>T
c.619G>T (p.Val207Phe)
1g.15445723T>ACA338567950CTRCc.766T>A (p.Ser256Thr)
c.*220T>A (n.*220T>A)
n.530T>A
c.620T>A (p.Val207Asp)
1g.15445723T>CCA338567948CTRCc.766T>C (p.Ser256Pro)
c.*220T>C (n.*220T>C)
n.530T>C
c.620T>C (p.Val207Ala)
1g.15445723T>GCA338567947CTRCc.766T>G (p.Ser256Ala)
c.*220T>G (n.*220T>G)
n.530T>G
c.620T>G (p.Val207Gly)
1g.15445724C>ACA338567953CTRCc.767C>A (p.Ser256Tyr)
c.*221C>A (n.*221C>A)
n.531C>A
c.621C>A (p.Val207=)
1g.15445724C=CA1155328787CTRCc.767C= (p.Ser256=)
c.*221C= (n.*221C=)
n.531C=
c.621C= (p.Val207=)
1g.15445724C>GCA613466CTRCc.767C>G (p.Ser256Cys)
c.*221C>G (n.*221C>G)
n.531C>G
c.621C>G (p.Val207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445724C>TCA338567956CTRCc.767C>T (p.Ser256Phe)
c.*221C>T (n.*221C>T)
n.531C>T
c.621C>T (p.Val207=)
1g.15445725C>ACA416207440CTRCc.768C>A (p.Ser256=)
c.*222C>A (n.*222C>A)
n.532C>A
c.622C>A (p.Arg208Ser)
1g.15445725C=CA1155328792CTRCc.768C= (p.Ser256=)
c.*222C= (n.*222C=)
n.532C=
c.622C= (p.Arg208=)
1g.15445725C>GCA416207438CTRCc.768C>G (p.Ser256=)
c.*222C>G (n.*222C>G)
n.532C>G
c.622C>G (p.Arg208Gly)
1g.15445725C>TCA613467CTRCc.768C>T (p.Ser256=)
c.*222C>T (n.*222C>T)
n.532C>T
c.622C>T (p.Arg208Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445726G>ACA613468CTRCc.769G>A (p.Ala257Thr)
c.*223G>A (n.*223G>A)
n.533G>A
c.623G>A (p.Arg208His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445726G>CCA338567963CTRCc.769G>C (p.Ala257Pro)
c.*223G>C (n.*223G>C)
n.533G>C
c.623G>C (p.Arg208Pro)
1g.15445726G=CA1143414703CTRCc.769G= (p.Ala257=)
c.*223G= (n.*223G=)
n.533G=
c.623G= (p.Arg208=)
1g.15445726G>TCA338567966CTRCc.769G>T (p.Ala257Ser)
c.*223G>T (n.*223G>T)
n.533G>T
c.623G>T (p.Arg208Leu)
1g.15445727C>ACA338567970CTRCc.770C>A (p.Ala257Asp)
c.*224C>A (n.*224C>A)
n.534C>A
c.624C>A (p.Arg208=)
 gnomAD v4
1g.15445727C>GCA338567972CTRCc.770C>G (p.Ala257Gly)
c.*224C>G (n.*224C>G)
n.534C>G
c.624C>G (p.Arg208=)
1g.15445727C>TCA338567974CTRCc.770C>T (p.Ala257Val)
c.*224C>T (n.*224C>T)
n.534C>T
c.624C>T (p.Arg208=)
 ClinVar
1g.15445728delCA2643487265CTRCc.771del (p.Tyr258ThrfsTer?)
c.*225del (n.*225del)
n.535del
c.625del (p.Leu209TyrfsTer12)
 gnomAD v4
1g.15445728C>ACA416207445CTRCc.771C>A (p.Ala257=)
c.*225C>A (n.*225C>A)
n.535C>A
c.625C>A (p.Leu209Ile)
1g.15445728C=CA1155328803CTRCc.771C= (p.Ala257=)
c.*225C= (n.*225C=)
n.535C=
c.625C= (p.Leu209=)
1g.15445728C>GCA416207444CTRCc.771C>G (p.Ala257=)
c.*225C>G (n.*225C>G)
n.535C>G
c.625C>G (p.Leu209Val)
1g.15445728C>TCA416207442CTRCc.771C>T (p.Ala257=)
c.*225C>T (n.*225C>T)
n.535C>T
c.625C>T (p.Leu209=)
 dbSNP gnomAD v3 gnomAD v4
1g.15445729T>ACA338567977CTRCc.772T>A (p.Tyr258Asn)
c.*226T>A (n.*226T>A)
n.536T>A
c.626T>A (p.Leu209Gln)
1g.15445729T>CCA338567979CTRCc.772T>C (p.Tyr258His)
c.*226T>C (n.*226T>C)
n.536T>C
c.626T>C (p.Leu209Pro)
1g.15445729T>GCA338567980CTRCc.772T>G (p.Tyr258Asp)
c.*226T>G (n.*226T>G)
n.536T>G
c.626T>G (p.Leu209Arg)
 gnomAD v4
1g.15445730A>CCA338567991CTRCc.773A>C (p.Tyr258Ser)
c.*227A>C (n.*227A>C)
n.537A>C
c.627A>C (p.Leu209=)
1g.15445730A>GCA338567988CTRCc.773A>G (p.Tyr258Cys)
c.*227A>G (n.*227A>G)
n.537A>G
c.627A>G (p.Leu209=)
 COSMIC
1g.15445730A>TCA338567986CTRCc.773A>T (p.Tyr258Phe)
c.*227A>T (n.*227A>T)
n.537A>T
c.627A>T (p.Leu209=)
1g.15445731C>ACA338567994CTRCc.774C>A (p.Tyr258Ter)
c.*228C>A (n.*228C>A)
n.538C>A
c.628C>A (p.His210Asn)
1g.15445731C>GCA338567995CTRCc.774C>G (p.Tyr258Ter)
c.*228C>G (n.*228C>G)
n.538C>G
c.628C>G (p.His210Asp)
1g.15445731C>TCA416207446CTRCc.774C>T (p.Tyr258=)
c.*228C>T (n.*228C>T)
n.538C>T
c.628C>T (p.His210Tyr)
 ClinVar gnomAD v4
1g.15445732A>CCA338567996CTRCc.775A>C (p.Ile259Leu)
c.*229A>C (n.*229A>C)
n.539A>C
c.629A>C (p.His210Pro)
1g.15445732A>GCA338567998CTRCc.775A>G (p.Ile259Val)
c.*229A>G (n.*229A>G)
n.539A>G
c.629A>G (p.His210Arg)
1g.15445732A>TCA338568000CTRCc.775A>T (p.Ile259Phe)
c.*229A>T (n.*229A>T)
n.539A>T
c.629A>T (p.His210Leu)
 gnomAD v4
1g.15445733T>ACA338568003CTRCc.776T>A (p.Ile259Asn)
c.*230T>A (n.*230T>A)
n.540T>A
c.630T>A (p.His210Gln)
1g.15445733T>CCA338568004CTRCc.776T>C (p.Ile259Thr)
c.*230T>C (n.*230T>C)
n.540T>C
c.630T>C (p.His210=)
 ClinVar
1g.15445733T>GCA338568007CTRCc.776T>G (p.Ile259Ser)
c.*230T>G (n.*230T>G)
n.540T>G
c.630T>G (p.His210Gln)
1g.15445734C>ACA416207450CTRCc.777C>A (p.Ile259=)
c.*231C>A (n.*231C>A)
n.541C>A
c.631C>A (p.Arg211=)
1g.15445734C=CA1155328806CTRCc.777C= (p.Ile259=)
c.*231C= (n.*231C=)
n.541C=
c.631C= (p.Arg211=)
1g.15445734C>GCA338568009CTRCc.777C>G (p.Ile259Met)
c.*231C>G (n.*231C>G)
n.541C>G
c.631C>G (p.Arg211Gly)
1g.15445734C>TCA18253886CTRCc.777C>T (p.Ile259=)
c.*231C>T (n.*231C>T)
n.541C>T
c.631C>T (p.Arg211Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445735G>ACA613469CTRCc.778G>A (p.Asp260Asn)
c.*232G>A (n.*232G>A)
n.542G>A
c.632G>A (p.Arg211Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445735G>CCA338568014CTRCc.778G>C (p.Asp260His)
c.*232G>C (n.*232G>C)
n.542G>C
c.632G>C (p.Arg211Pro)
 dbSNP
1g.15445735G=CA1145263634CTRCc.778G= (p.Asp260=)
c.*232G= (n.*232G=)
n.542G=
c.632G= (p.Arg211=)
1g.15445735G>TCA338568016CTRCc.778G>T (p.Asp260Tyr)
c.*232G>T (n.*232G>T)
n.542G>T
c.632G>T (p.Arg211Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.15445736A>CCA338568021CTRCc.779A>C (p.Asp260Ala)
c.*233A>C (n.*233A>C)
n.543A>C
c.633A>C (p.Arg211=)
1g.15445736A>GCA338568022CTRCc.779A>G (p.Asp260Gly)
c.*233A>G (n.*233A>G)
n.543A>G
c.633A>G (p.Arg211=)
 ClinVar gnomAD v4
1g.15445736A>TCA338568019CTRCc.779A>T (p.Asp260Val)
c.*233A>T (n.*233A>T)
n.543A>T
c.633A>T (p.Arg211=)
1g.15445737C>ACA338568024CTRCc.780C>A (p.Asp260Glu)
c.*234C>A (n.*234C>A)
n.544C>A
c.634C>A (p.Leu212Met)
1g.15445737C=CA1155328812CTRCc.780C= (p.Asp260=)
c.*234C= (n.*234C=)
n.544C=
c.634C= (p.Leu212=)
1g.15445737C>GCA613470CTRCc.780C>G (p.Asp260Glu)
c.*234C>G (n.*234C>G)
n.544C>G
c.634C>G (p.Leu212Val)
 dbSNP ExAC gnomAD v2
1g.15445737C>TCA416207455CTRCc.780C>T (p.Asp260=)
c.*234C>T (n.*234C>T)
n.544C>T
c.634C>T (p.Leu212=)
1g.15445738T>ACA338568027CTRCc.781T>A (p.Trp261Arg)
c.*235T>A (n.*235T>A)
n.545T>A
c.635T>A (p.Leu212Gln)
1g.15445738T>CCA338568030CTRCc.781T>C (p.Trp261Arg)
c.*235T>C (n.*235T>C)
n.545T>C
c.635T>C (p.Leu212Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445738T>GCA338568032CTRCc.781T>G (p.Trp261Gly)
c.*235T>G (n.*235T>G)
n.545T>G
c.635T>G (p.Leu212Arg)
1g.15445738T=CA1155328819CTRCc.781T= (p.Trp261=)
c.*235T= (n.*235T=)
n.545T=
c.635T= (p.Leu212=)
1g.15445739G>ACA338568039CTRCc.782G>A (p.Trp261Ter)
c.*236G>A (n.*236G>A)
n.546G>A
c.636G>A (p.Leu212=)
1g.15445739G>CCA338568038CTRCc.782G>C (p.Trp261Ser)
c.*236G>C (n.*236G>C)
n.546G>C
c.636G>C (p.Leu212=)
1g.15445739G>TCA338568035CTRCc.782G>T (p.Trp261Leu)
c.*236G>T (n.*236G>T)
n.546G>T
c.636G>T (p.Leu212=)
1g.15445740G>ACA338568042CTRCc.783G>A (p.Trp261Ter)
c.*237G>A (n.*237G>A)
n.547G>A
c.637G>A (p.Asp213Asn)
 ClinVar
1g.15445740G>CCA338568044CTRCc.783G>C (p.Trp261Cys)
c.*237G>C (n.*237G>C)
n.547G>C
c.637G>C (p.Asp213His)
1g.15445740G=CA1155328824CTRCc.783G= (p.Trp261=)
c.*237G= (n.*237G=)
n.547G=
c.637G= (p.Asp213=)
1g.15445740G>TCA613471CTRCc.783G>T (p.Trp261Cys)
c.*237G>T (n.*237G>T)
n.547G>T
c.637G>T (p.Asp213Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445741A>CCA338568048CTRCc.784A>C (p.Ile262Leu)
c.*238A>C (n.*238A>C)
n.548A>C
c.638A>C (p.Asp213Ala)
 gnomAD v4
1g.15445741A>GCA338568050CTRCc.784A>G (p.Ile262Val)
c.*238A>G (n.*238A>G)
n.548A>G
c.638A>G (p.Asp213Gly)
1g.15445741A>TCA338568052CTRCc.784A>T (p.Ile262Phe)
c.*238A>T (n.*238A>T)
n.548A>T
c.638A>T (p.Asp213Val)
1g.15445742T>ACA338568054CTRCc.785T>A (p.Ile262Asn)
c.*239T>A (n.*239T>A)
n.549T>A
c.639T>A (p.Asp213Glu)
1g.15445742T>CCA338568056CTRCc.785T>C (p.Ile262Thr)
c.*239T>C (n.*239T>C)
n.549T>C
c.639T>C (p.Asp213=)
1g.15445742T>GCA338568055CTRCc.785T>G (p.Ile262Ser)
c.*239T>G (n.*239T>G)
n.549T>G
c.639T>G (p.Asp213Glu)
1g.15445743C>ACA416207459CTRCc.786C>A (p.Ile262=)
c.*240C>A (n.*240C>A)
n.550C>A
c.640C>A (p.Gln214Lys)
1g.15445743C=CA1155328829CTRCc.786C= (p.Ile262=)
c.*240C= (n.*240C=)
n.550C=
c.640C= (p.Gln214=)
1g.15445743C>GCA338568057CTRCc.786C>G (p.Ile262Met)
c.*240C>G (n.*240C>G)
n.550C>G
c.640C>G (p.Gln214Glu)
1g.15445743C>TCA416207460CTRCc.786C>T (p.Ile262=)
c.*240C>T (n.*240C>T)
n.550C>T
c.640C>T (p.Gln214Ter)
1g.15445744A>CCA338568058CTRCc.787A>C (p.Asn263His)
c.*241A>C (n.*241A>C)
n.551A>C
c.641A>C (p.Gln214Pro)
1g.15445744A>GCA338568059CTRCc.787A>G (p.Asn263Asp)
c.*241A>G (n.*241A>G)
n.551A>G
c.641A>G (p.Gln214Arg)
1g.15445744A>TCA338568060CTRCc.787A>T (p.Asn263Tyr)
c.*241A>T (n.*241A>T)
n.551A>T
c.641A>T (p.Gln214Leu)
1g.15445745dupCA613472CTRCc.788dup (p.Asn263LysfsTer?)
c.*242dup (n.*242dup)
n.552dup
c.642dup (p.Arg215ThrfsTer?)
 dbSNP ExAC gnomAD v2
1g.15445745A=CA1155328833CTRCc.788A= (p.Asn263=)
c.*242A= (n.*242A=)
n.552A=
c.642A= (p.Gln214=)
1g.15445745A>CCA613473CTRCc.788A>C (p.Asn263Thr)
c.*242A>C (n.*242A>C)
n.552A>C
c.642A>C (p.Gln214His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445745A>GCA613474CTRCc.788A>G (p.Asn263Ser)
c.*242A>G (n.*242A>G)
n.552A>G
c.642A>G (p.Gln214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445745A>TCA338568061CTRCc.788A>T (p.Asn263Ile)
c.*242A>T (n.*242A>T)
n.552A>T
c.642A>T (p.Gln214His)
 COSMIC
1g.15445746C>ACA338568062CTRCc.789C>A (p.Asn263Lys)
c.*243C>A (n.*243C>A)
n.553C>A
c.643C>A (p.Arg215=)
1g.15445746C=CA1155328839CTRCc.789C= (p.Asn263=)
c.*243C= (n.*243C=)
n.553C=
c.643C= (p.Arg215=)
1g.15445746C>GCA338568063CTRCc.789C>G (p.Asn263Lys)
c.*243C>G (n.*243C>G)
n.553C>G
c.643C>G (p.Arg215Gly)
1g.15445746C>TCA613475CTRCc.789C>T (p.Asn263=)
c.*243C>T (n.*243C>T)
n.553C>T
c.643C>T (p.Arg215Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.15445747G>ACA338568066CTRCc.790G>A (p.Glu264Lys)
c.*244G>A (n.*244G>A)
n.554G>A
c.644G>A (p.Arg215Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.15445747G>CCA338568065CTRCc.790G>C (p.Glu264Gln)
c.*244G>C (n.*244G>C)
n.554G>C
c.644G>C (p.Arg215Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.15445747G=CA1155328842CTRCc.790G= (p.Glu264=)
c.*244G= (n.*244G=)
n.554G=
c.644G= (p.Arg215=)
1g.15445747G>TCA338568064CTRCc.790G>T (p.Glu264Ter)
c.*244G>T (n.*244G>T)
n.554G>T
c.644G>T (p.Arg215Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.15445748A=CA1155328847CTRCc.791A= (p.Glu264=)
c.*245A= (n.*245A=)
n.555A=
c.645A= (p.Arg215=)
1g.15445748A>CCA338568067CTRCc.791A>C (p.Glu264Ala)
c.*245A>C (n.*245A>C)
n.555A>C
c.645A>C (p.Arg215=)
1g.15445748A>GCA613476CTRCc.791A>G (p.Glu264Gly)
c.*245A>G (n.*245A>G)
n.555A>G
c.645A>G (p.Arg215=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.15445748A>TCA338568068CTRCc.791A>T (p.Glu264Val)
c.*245A>T (n.*245A>T)
n.555A>T
c.645A>T (p.Arg215=)
 gnomAD v4
1g.15445749G>ACA416207463CTRCc.792G>A (p.Glu264=)
c.*246G>A (n.*246G>A)
n.556G>A
c.646G>A (p.Glu216Lys)
 gnomAD v4
1g.15445749G>CCA338568069CTRCc.792G>C (p.Glu264Asp)
c.*246G>C (n.*246G>C)
n.556G>C
c.646G>C (p.Glu216Gln)
1g.15445749G>TCA338568070CTRCc.792G>T (p.Glu264Asp)
c.*246G>T (n.*246G>T)
n.556G>T
c.646G>T (p.Glu216Ter)
1g.15445750G>ACA338568071CTRCc.792+1G>A (n.792+1G>A)
c.*246+1G>A (n.*246+1G>A)
n.556+1G>A
c.646+1G>A (n.646+1G>A)
1g.15445750G>CCA338568072CTRCc.792+1G>C (n.792+1G>C)
c.*246+1G>C (n.*246+1G>C)
n.556+1G>C
c.646+1G>C (n.646+1G>C)
1g.15445750G=CA1155328849CTRCc.792+1G= (n.792+1G=)
c.*246+1G= (n.*246+1G=)
n.556+1G=
c.646+1G= (n.646+1G=)
1g.15445750G>TCA338568073CTRCc.792+1G>T (n.792+1G>T)
c.*246+1G>T (n.*246+1G>T)
n.556+1G>T
c.646+1G>T (n.646+1G>T)
 dbSNP
1g.15445751T>ACA338568074CTRCc.792+2T>A (n.792+2T>A)
c.*246+2T>A (n.*246+2T>A)
n.556+2T>A
c.646+2T>A (n.646+2T>A)
1g.15445751T>CCA338568075CTRCc.792+2T>C (n.792+2T>C)
c.*246+2T>C (n.*246+2T>C)
n.556+2T>C
c.646+2T>C (n.646+2T>C)
 gnomAD v4
1g.15445751T>GCA613477CTRCc.792+2T>G (n.792+2T>G)
c.*246+2T>G (n.*246+2T>G)
n.556+2T>G
c.646+2T>G (n.646+2T>G)
 dbSNP ExAC gnomAD v2
1g.15445751T=CA1155328854CTRCc.792+2T= (n.792+2T=)
c.*246+2T= (n.*246+2T=)
n.556+2T=
c.646+2T= (n.646+2T=)
1g.15445754G>ACA2643487266CTRCc.792+5G>A (n.792+5G>A)
c.*246+5G>A (n.*246+5G>A)
n.556+5G>A
c.646+5G>A (n.646+5G>A)
 gnomAD v4
1g.15445754G=CA1155328857CTRCc.792+5G= (n.792+5G=)
c.*246+5G= (n.*246+5G=)
n.556+5G=
c.646+5G= (n.646+5G=)
1g.15445755T>GCA1155328859CTRCc.792+6T>G (n.792+6T>G)
c.*246+6T>G (n.*246+6T>G)
n.556+6T>G
c.646+6T>G (n.646+6T>G)
 dbSNP
1g.15445755T=CA1155328858CTRCc.792+6T= (n.792+6T=)
c.*246+6T= (n.*246+6T=)
n.556+6T=
c.646+6T= (n.646+6T=)
1g.15445755dupCA889587578CTRCc.792+6dup (n.792+6dup)
c.*246+6dup (n.*246+6dup)
n.556+6dup
c.646+6dup (n.646+6dup)
 dbSNP gnomAD v3 gnomAD v4
1g.15445756G>ACA2643487267CTRCc.792+7G>A (n.792+7G>A)
c.*246+7G>A (n.*246+7G>A)
n.556+7G>A
c.646+7G>A (n.646+7G>A)
 gnomAD v4
1g.15445757C=CA1155328862CTRCc.792+8C= (n.792+8C=)
c.*246+8C= (n.*246+8C=)
n.556+8C=
c.646+8C= (n.646+8C=)
1g.15445757C>TCA521458358CTRCc.792+8C>T (n.792+8C>T)
c.*246+8C>T (n.*246+8C>T)
n.556+8C>T
c.646+8C>T (n.646+8C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.15445759G>ACA2573130693CTRCc.792+10G>A (n.792+10G>A)
c.*246+10G>A (n.*246+10G>A)
n.556+10G>A
c.646+10G>A (n.646+10G>A)
 ClinVar dbSNP
1g.15445759G>CCA521458359CTRCc.792+10G>C (n.792+10G>C)
c.*246+10G>C (n.*246+10G>C)
n.556+10G>C
c.646+10G>C (n.646+10G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.15445759G=CA1155328864CTRCc.792+10G= (n.792+10G=)
c.*246+10G= (n.*246+10G=)
n.556+10G=
c.646+10G= (n.646+10G=)
1g.15445759G>TCA1155328865CTRCc.792+10G>T (n.792+10G>T)
c.*246+10G>T (n.*246+10G>T)
n.556+10G>T
c.646+10G>T (n.646+10G>T)
 dbSNP
1g.15445760C>TCA2643487268CTRCc.792+11C>T (n.792+11C>T)
c.*246+11C>T (n.*246+11C>T)
n.556+11C>T
c.646+11C>T (n.646+11C>T)
 gnomAD v4
1g.15445761C>ACA18253914CTRCc.792+12C>A (n.792+12C>A)
c.*246+12C>A (n.*246+12C>A)
n.556+12C>A
c.646+12C>A (n.646+12C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.15445761C=CA1143819305CTRCc.792+12C= (n.792+12C=)
c.*246+12C= (n.*246+12C=)
n.556+12C=
c.646+12C= (n.646+12C=)
1g.15445761C>TCA2643487269CTRCc.792+12C>T (n.792+12C>T)
c.*246+12C>T (n.*246+12C>T)
n.556+12C>T
c.646+12C>T (n.646+12C>T)
 gnomAD v4
1g.15445762T>ACA2580061173CTRCc.792+13T>A (n.792+13T>A)
c.*246+13T>A (n.*246+13T>A)
n.556+13T>A
c.646+13T>A (n.646+13T>A)
 ClinVar
1g.15445764delCA2574225629CTRCc.792+15del (n.792+15del)
c.*246+15del (n.*246+15del)
n.556+15del
c.646+15del (n.646+15del)
1g.15445766C>TCA2643487270CTRCc.792+17C>T (n.792+17C>T)
c.*246+17C>T (n.*246+17C>T)
n.556+17C>T
c.646+17C>T (n.646+17C>T)
 gnomAD v4
1g.15445768G>ACA2580061174CTRCc.792+19G>A (n.792+19G>A)
c.*246+19G>A (n.*246+19G>A)
n.556+19G>A
c.646+19G>A (n.646+19G>A)
 ClinVar gnomAD v4
1g.15445768G>TCA2574225630CTRCc.792+19G>T (n.792+19G>T)
c.*246+19G>T (n.*246+19G>T)
n.556+19G>T
c.646+19G>T (n.646+19G>T)
1g.15445769C=CA1155328872CTRCc.792+20C= (n.792+20C=)
c.*246+20C= (n.*246+20C=)
n.556+20C=
c.646+20C= (n.646+20C=)
1g.15445769C>TCA889587580CTRCc.792+20C>T (n.792+20C>T)
c.*246+20C>T (n.*246+20C>T)
n.556+20C>T
c.646+20C>T (n.646+20C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.15445771G>CCA2643487271CTRCc.792+22G>C (n.792+22G>C)
c.*246+22G>C (n.*246+22G>C)
n.556+22G>C
c.646+22G>C (n.646+22G>C)
 gnomAD v4
1g.15445771G>TCA2643487272CTRCc.792+22G>T (n.792+22G>T)
c.*246+22G>T (n.*246+22G>T)
n.556+22G>T
c.646+22G>T (n.646+22G>T)
 gnomAD v4

Number of alleles fetched