Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91272732G>ACA7308542CCDC88Cc.5980C>T (p.Arg1994Trp)
c.1414C>T (p.Arg472Trp)
c.2208C>T
c.5872C>T (p.Arg1958Trp)
c.3061C>T (p.Arg1021Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G>CCA171546CCDC88Cc.5980C>G (p.Arg1994Gly)
c.1414C>G (p.Arg472Gly)
c.2208C>G
c.5872C>G (p.Arg1958Gly)
c.3061C>G (p.Arg1021Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272732G=CA2154900237CCDC88Cc.5980C= (p.Arg1994=)
c.1414C= (p.Arg472=)
c.2208C=
c.5872C= (p.Arg1958=)
c.3061C= (p.Arg1021=)
14g.91272732G>TCA487828549CCDC88Cc.5980C>A (p.Arg1994=)
c.1414C>A (p.Arg472=)
c.2208C>A
c.5872C>A (p.Arg1958=)
c.3061C>A (p.Arg1021=)
 ClinVar gnomAD v4
14g.91272733G>ACA487828550CCDC88Cc.5979C>T (p.Gly1993=)
c.1413C>T (p.Gly471=)
c.2207C>T
c.5871C>T (p.Gly1957=)
c.3060C>T (p.Gly1020=)
14g.91272733G>CCA487828552CCDC88Cc.5979C>G (p.Gly1993=)
c.1413C>G (p.Gly471=)
c.2207C>G
c.5871C>G (p.Gly1957=)
c.3060C>G (p.Gly1020=)
14g.91272733G>TCA487828551CCDC88Cc.5979C>A (p.Gly1993=)
c.1413C>A (p.Gly471=)
c.2207C>A
c.5871C>A (p.Gly1957=)
c.3060C>A (p.Gly1020=)
 gnomAD v4
14g.91272734C>ACA390608129CCDC88Cc.5978G>T (p.Gly1993Val)
c.1412G>T (p.Gly471Val)
c.2206G>T
c.5870G>T (p.Gly1957Val)
c.3059G>T (p.Gly1020Val)
14g.91272734C>GCA390608130CCDC88Cc.5978G>C (p.Gly1993Ala)
c.1412G>C (p.Gly471Ala)
c.2206G>C
c.5870G>C (p.Gly1957Ala)
c.3059G>C (p.Gly1020Ala)
14g.91272734C>TCA390608131CCDC88Cc.5978G>A (p.Gly1993Asp)
c.1412G>A (p.Gly471Asp)
c.2206G>A
c.5870G>A (p.Gly1957Asp)
c.3059G>A (p.Gly1020Asp)
 gnomAD v4
14g.91272735C>ACA390608132CCDC88Cc.5977G>T (p.Gly1993Cys)
c.1411G>T (p.Gly471Cys)
c.2205G>T
c.5869G>T (p.Gly1957Cys)
c.3058G>T (p.Gly1020Cys)
 gnomAD v4
14g.91272735C=CA2154900243CCDC88Cc.5977G= (p.Gly1993=)
c.1411G= (p.Gly471=)
c.2205G=
c.5869G= (p.Gly1957=)
c.3058G= (p.Gly1020=)
14g.91272735C>GCA390608133CCDC88Cc.5977G>C (p.Gly1993Arg)
c.1411G>C (p.Gly471Arg)
c.2205G>C
c.5869G>C (p.Gly1957Arg)
c.3058G>C (p.Gly1020Arg)
14g.91272735C>TCA7308543CCDC88Cc.5977G>A (p.Gly1993Ser)
c.1411G>A (p.Gly471Ser)
c.2205G>A
c.5869G>A (p.Gly1957Ser)
c.3058G>A (p.Gly1020Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272736G>ACA7308544CCDC88Cc.5976C>T (p.Leu1992=)
c.1410C>T (p.Leu470=)
c.2204C>T
c.5868C>T (p.Leu1956=)
c.3057C>T (p.Leu1019=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272736G>CCA487828556CCDC88Cc.5976C>G (p.Leu1992=)
c.1410C>G (p.Leu470=)
c.2204C>G
c.5868C>G (p.Leu1956=)
c.3057C>G (p.Leu1019=)
14g.91272736G=CA2154900250CCDC88Cc.5976C= (p.Leu1992=)
c.1410C= (p.Leu470=)
c.2204C=
c.5868C= (p.Leu1956=)
c.3057C= (p.Leu1019=)
14g.91272736G>TCA487828557CCDC88Cc.5976C>A (p.Leu1992=)
c.1410C>A (p.Leu470=)
c.2204C>A
c.5868C>A (p.Leu1956=)
c.3057C>A (p.Leu1019=)
 dbSNP gnomAD v4
14g.91272736_91272737delinsAGCA658658267CCDC88Cc.5975_5976delinsCT (p.Leu1992Pro)
c.1409_1410delinsCT (p.Leu470Pro)
c.2203_2204delinsCT
c.5867_5868delinsCT (p.Leu1956Pro)
c.3056_3057delinsCT (p.Leu1019Pro)
 ClinVar dbSNP
14g.91272736_91272737delinsCGCA2739278569CCDC88Cc.5975_5976delinsCG (p.Leu1992Pro)
c.1409_1410delinsCG (p.Leu470Pro)
c.2203_2204delinsCG
c.5867_5868delinsCG (p.Leu1956Pro)
c.3056_3057delinsCG (p.Leu1019Pro)
 ClinVar
14g.91272736_91272737delinsGACA2154900253CCDC88Cc.5975_5976delinsTC (p.Leu1992=)
c.1409_1410delinsTC (p.Leu470=)
c.2203_2204delinsTC
c.5867_5868delinsTC (p.Leu1956=)
c.3056_3057delinsTC (p.Leu1019=)
14g.91272737delCA2626127260CCDC88Cc.5975del (p.Leu1992ProfsTer?)
c.1409del (p.Leu470ProfsTer?)
c.2203del
c.5867del (p.Leu1956ProfsTer?)
c.3056del (p.Leu1019ProfsTer?)
 gnomAD v4
14g.91272737A=CA2154900256CCDC88Cc.5975T= (p.Leu1992=)
c.1409T= (p.Leu470=)
c.2203T=
c.5867T= (p.Leu1956=)
c.3056T= (p.Leu1019=)
14g.91272737A>CCA390608134CCDC88Cc.5975T>G (p.Leu1992Arg)
c.1409T>G (p.Leu470Arg)
c.2203T>G
c.5867T>G (p.Leu1956Arg)
c.3056T>G (p.Leu1019Arg)
14g.91272737A>GCA171544CCDC88Cc.5975T>C (p.Leu1992Pro)
c.1409T>C (p.Leu470Pro)
c.2203T>C
c.5867T>C (p.Leu1956Pro)
c.3056T>C (p.Leu1019Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272737A>TCA390608135CCDC88Cc.5975T>A (p.Leu1992His)
c.1409T>A (p.Leu470His)
c.2203T>A
c.5867T>A (p.Leu1956His)
c.3056T>A (p.Leu1019His)
 dbSNP gnomAD v4
14g.91272738G>ACA390608136CCDC88Cc.5974C>T (p.Leu1992Phe)
c.1408C>T (p.Leu470Phe)
c.2202C>T
c.5866C>T (p.Leu1956Phe)
c.3055C>T (p.Leu1019Phe)
14g.91272738G>CCA390608137CCDC88Cc.5974C>G (p.Leu1992Val)
c.1408C>G (p.Leu470Val)
c.2202C>G
c.5866C>G (p.Leu1956Val)
c.3055C>G (p.Leu1019Val)
 gnomAD v4
14g.91272738G>TCA390608138CCDC88Cc.5974C>A (p.Leu1992Ile)
c.1408C>A (p.Leu470Ile)
c.2202C>A
c.5866C>A (p.Leu1956Ile)
c.3055C>A (p.Leu1019Ile)
 gnomAD v4
14g.91272739G>ACA487828560CCDC88Cc.5973C>T (p.His1991=)
c.1407C>T (p.His469=)
c.2201C>T
c.5865C>T (p.His1955=)
c.3054C>T (p.His1018=)
 gnomAD v4
14g.91272739G>CCA390608140CCDC88Cc.5973C>G (p.His1991Gln)
c.1407C>G (p.His469Gln)
c.2201C>G
c.5865C>G (p.His1955Gln)
c.3054C>G (p.His1018Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.91272739G=CA2154900260CCDC88Cc.5973C= (p.His1991=)
c.1407C= (p.His469=)
c.2201C=
c.5865C= (p.His1955=)
c.3054C= (p.His1018=)
14g.91272739G>TCA390608139CCDC88Cc.5973C>A (p.His1991Gln)
c.1407C>A (p.His469Gln)
c.2201C>A
c.5865C>A (p.His1955Gln)
c.3054C>A (p.His1018Gln)
 gnomAD v4
14g.91272740T>ACA265517249CCDC88Cc.5972A>T (p.His1991Leu)
c.1406A>T (p.His469Leu)
c.2200A>T
c.5864A>T (p.His1955Leu)
c.3053A>T (p.His1018Leu)
 dbSNP gnomAD v4
14g.91272740T>CCA390608141CCDC88Cc.5972A>G (p.His1991Arg)
c.1406A>G (p.His469Arg)
c.2200A>G
c.5864A>G (p.His1955Arg)
c.3053A>G (p.His1018Arg)
14g.91272740T>GCA7308545CCDC88Cc.5972A>C (p.His1991Pro)
c.1406A>C (p.His469Pro)
c.2200A>C
c.5864A>C (p.His1955Pro)
c.3053A>C (p.His1018Pro)
 dbSNP ExAC gnomAD v2
14g.91272740T=CA2154900265CCDC88Cc.5972A= (p.His1991=)
c.1406A= (p.His469=)
c.2200A=
c.5864A= (p.His1955=)
c.3053A= (p.His1018=)
14g.91272741G>ACA390608142CCDC88Cc.5971C>T (p.His1991Tyr)
c.1405C>T (p.His469Tyr)
c.2199C>T
c.5863C>T (p.His1955Tyr)
c.3052C>T (p.His1018Tyr)
 dbSNP gnomAD v4
14g.91272741G>CCA390608143CCDC88Cc.5971C>G (p.His1991Asp)
c.1405C>G (p.His469Asp)
c.2199C>G
c.5863C>G (p.His1955Asp)
c.3052C>G (p.His1018Asp)
 dbSNP
14g.91272741G=CA2154900269CCDC88Cc.5971C= (p.His1991=)
c.1405C= (p.His469=)
c.2199C=
c.5863C= (p.His1955=)
c.3052C= (p.His1018=)
14g.91272741G>TCA390608144CCDC88Cc.5971C>A (p.His1991Asn)
c.1405C>A (p.His469Asn)
c.2199C>A
c.5863C>A (p.His1955Asn)
c.3052C>A (p.His1018Asn)
14g.91272744delCA2626127261CCDC88Cc.5971del (p.His1991ThrfsTer?)
c.1405del (p.His469ThrfsTer?)
c.2199del
c.5863del (p.His1955ThrfsTer?)
c.3052del (p.His1018ThrfsTer?)
 gnomAD v4
14g.91272743_91272744delCA2525990980CCDC88Cc.5970_5971del (p.His1991ProfsTer?)
c.1404_1405del (p.His469ProfsTer?)
c.2198_2199del
c.5862_5863del (p.His1955ProfsTer?)
c.3051_3052del (p.His1018ProfsTer?)
14g.91272742G>ACA7308547CCDC88Cc.5970C>T (p.Pro1990=)
c.1404C>T (p.Pro468=)
c.2198C>T
c.5862C>T (p.Pro1954=)
c.3051C>T (p.Pro1017=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272742G>CCA487828563CCDC88Cc.5970C>G (p.Pro1990=)
c.1404C>G (p.Pro468=)
c.2198C>G
c.5862C>G (p.Pro1954=)
c.3051C>G (p.Pro1017=)
14g.91272742G=CA2154900274CCDC88Cc.5970C= (p.Pro1990=)
c.1404C= (p.Pro468=)
c.2198C=
c.5862C= (p.Pro1954=)
c.3051C= (p.Pro1017=)
14g.91272742G>TCA7308546CCDC88Cc.5970C>A (p.Pro1990=)
c.1404C>A (p.Pro468=)
c.2198C>A
c.5862C>A (p.Pro1954=)
c.3051C>A (p.Pro1017=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272743G>ACA390608145CCDC88Cc.5969C>T (p.Pro1990Leu)
c.1403C>T (p.Pro468Leu)
c.2197C>T
c.5861C>T (p.Pro1954Leu)
c.3050C>T (p.Pro1017Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272743G>CCA390608146CCDC88Cc.5969C>G (p.Pro1990Arg)
c.1403C>G (p.Pro468Arg)
c.2197C>G
c.5861C>G (p.Pro1954Arg)
c.3050C>G (p.Pro1017Arg)
 gnomAD v4
14g.91272743G=CA2154900281CCDC88Cc.5969C= (p.Pro1990=)
c.1403C= (p.Pro468=)
c.2197C=
c.5861C= (p.Pro1954=)
c.3050C= (p.Pro1017=)
14g.91272743G>TCA390608147CCDC88Cc.5969C>A (p.Pro1990His)
c.1403C>A (p.Pro468His)
c.2197C>A
c.5861C>A (p.Pro1954His)
c.3050C>A (p.Pro1017His)
 gnomAD v4
14g.91272744G>ACA7308548CCDC88Cc.5968C>T (p.Pro1990Ser)
c.1402C>T (p.Pro468Ser)
c.2196C>T
c.5860C>T (p.Pro1954Ser)
c.3049C>T (p.Pro1017Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272744G>CCA390608150CCDC88Cc.5968C>G (p.Pro1990Ala)
c.1402C>G (p.Pro468Ala)
c.2196C>G
c.5860C>G (p.Pro1954Ala)
c.3049C>G (p.Pro1017Ala)
14g.91272744G=CA2154900294CCDC88Cc.5968C= (p.Pro1990=)
c.1402C= (p.Pro468=)
c.2196C=
c.5860C= (p.Pro1954=)
c.3049C= (p.Pro1017=)
14g.91272744G>TCA390608152CCDC88Cc.5968C>A (p.Pro1990Thr)
c.1402C>A (p.Pro468Thr)
c.2196C>A
c.5860C>A (p.Pro1954Thr)
c.3049C>A (p.Pro1017Thr)
 gnomAD v4
14g.91272744_91272745delinsGACA2154900292CCDC88Cc.5967_5968delinsTC (p.Ala1989=)
c.1401_1402delinsTC (p.Ala467=)
c.2195_2196delinsTC
c.5859_5860delinsTC (p.Ala1953=)
c.3048_3049delinsTC (p.Ala1016=)
14g.91272745delCA965920862CCDC88Cc.5967del (p.His1991ThrfsTer?)
c.1401del (p.His469ThrfsTer?)
c.2195del
c.5859del (p.His1955ThrfsTer?)
c.3048del (p.His1018ThrfsTer?)
 dbSNP gnomAD v3 gnomAD v4
14g.91272745A=CA2154900301CCDC88Cc.5967T= (p.Ala1989=)
c.1401T= (p.Ala467=)
c.2195T=
c.5859T= (p.Ala1953=)
c.3048T= (p.Ala1016=)
14g.91272745A>CCA487828566CCDC88Cc.5967T>G (p.Ala1989=)
c.1401T>G (p.Ala467=)
c.2195T>G
c.5859T>G (p.Ala1953=)
c.3048T>G (p.Ala1016=)
 dbSNP
14g.91272745A>GCA487828567CCDC88Cc.5967T>C (p.Ala1989=)
c.1401T>C (p.Ala467=)
c.2195T>C
c.5859T>C (p.Ala1953=)
c.3048T>C (p.Ala1016=)
 dbSNP gnomAD v3 gnomAD v4
14g.91272745A>TCA487828568CCDC88Cc.5967T>A (p.Ala1989=)
c.1401T>A (p.Ala467=)
c.2195T>A
c.5859T>A (p.Ala1953=)
c.3048T>A (p.Ala1016=)
 gnomAD v4
14g.91272746G>ACA390608157CCDC88Cc.5966C>T (p.Ala1989Val)
c.1400C>T (p.Ala467Val)
c.2194C>T
c.5858C>T (p.Ala1953Val)
c.3047C>T (p.Ala1016Val)
 gnomAD v4
14g.91272746G>CCA390608159CCDC88Cc.5966C>G (p.Ala1989Gly)
c.1400C>G (p.Ala467Gly)
c.2194C>G
c.5858C>G (p.Ala1953Gly)
c.3047C>G (p.Ala1016Gly)
14g.91272746G>TCA390608155CCDC88Cc.5966C>A (p.Ala1989Asp)
c.1400C>A (p.Ala467Asp)
c.2194C>A
c.5858C>A (p.Ala1953Asp)
c.3047C>A (p.Ala1016Asp)
 gnomAD v4
14g.91272747C>ACA390608164CCDC88Cc.5965G>T (p.Ala1989Ser)
c.1399G>T (p.Ala467Ser)
c.2193G>T
c.5857G>T (p.Ala1953Ser)
c.3046G>T (p.Ala1016Ser)
 gnomAD v4
14g.91272747C=CA2154900306CCDC88Cc.5965G= (p.Ala1989=)
c.1399G= (p.Ala467=)
c.2193G=
c.5857G= (p.Ala1953=)
c.3046G= (p.Ala1016=)
14g.91272747C>GCA390608162CCDC88Cc.5965G>C (p.Ala1989Pro)
c.1399G>C (p.Ala467Pro)
c.2193G>C
c.5857G>C (p.Ala1953Pro)
c.3046G>C (p.Ala1016Pro)
14g.91272747C>TCA390608163CCDC88Cc.5965G>A (p.Ala1989Thr)
c.1399G>A (p.Ala467Thr)
c.2193G>A
c.5857G>A (p.Ala1953Thr)
c.3046G>A (p.Ala1016Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272748C>ACA390608166CCDC88Cc.5964G>T (p.Leu1988Phe)
c.1398G>T (p.Leu466Phe)
c.2192G>T
c.5856G>T (p.Leu1952Phe)
c.3045G>T (p.Leu1015Phe)
14g.91272748C>GCA390608168CCDC88Cc.5964G>C (p.Leu1988Phe)
c.1398G>C (p.Leu466Phe)
c.2192G>C
c.5856G>C (p.Leu1952Phe)
c.3045G>C (p.Leu1015Phe)
14g.91272748C>TCA487828569CCDC88Cc.5964G>A (p.Leu1988=)
c.1398G>A (p.Leu466=)
c.2192G>A
c.5856G>A (p.Leu1952=)
c.3045G>A (p.Leu1015=)
 gnomAD v4
14g.91272749A>CCA390608171CCDC88Cc.5963T>G (p.Leu1988Trp)
c.1397T>G (p.Leu466Trp)
c.2191T>G
c.5855T>G (p.Leu1952Trp)
c.3044T>G (p.Leu1015Trp)
14g.91272749A>GCA390608172CCDC88Cc.5963T>C (p.Leu1988Ser)
c.1397T>C (p.Leu466Ser)
c.2191T>C
c.5855T>C (p.Leu1952Ser)
c.3044T>C (p.Leu1015Ser)
14g.91272749A>TCA390608175CCDC88Cc.5963T>A (p.Leu1988Ter)
c.1397T>A (p.Leu466Ter)
c.2191T>A
c.5855T>A (p.Leu1952Ter)
c.3044T>A (p.Leu1015Ter)
14g.91272750A>CCA390608177CCDC88Cc.5962T>G (p.Leu1988Val)
c.1396T>G (p.Leu466Val)
c.2190T>G
c.5854T>G (p.Leu1952Val)
c.3043T>G (p.Leu1015Val)
 gnomAD v4
14g.91272750A>GCA487828570CCDC88Cc.5962T>C (p.Leu1988=)
c.1396T>C (p.Leu466=)
c.2190T>C
c.5854T>C (p.Leu1952=)
c.3043T>C (p.Leu1015=)
14g.91272750A>TCA390608178CCDC88Cc.5962T>A (p.Leu1988Met)
c.1396T>A (p.Leu466Met)
c.2190T>A
c.5854T>A (p.Leu1952Met)
c.3043T>A (p.Leu1015Met)
14g.91272751A>CCA390608182CCDC88Cc.5961T>G (p.Asp1987Glu)
c.1395T>G (p.Asp465Glu)
c.2189T>G
c.5853T>G (p.Asp1951Glu)
c.3042T>G (p.Asp1014Glu)
14g.91272751A>GCA487828571CCDC88Cc.5961T>C (p.Asp1987=)
c.1395T>C (p.Asp465=)
c.2189T>C
c.5853T>C (p.Asp1951=)
c.3042T>C (p.Asp1014=)
14g.91272751A>TCA390608184CCDC88Cc.5961T>A (p.Asp1987Glu)
c.1395T>A (p.Asp465Glu)
c.2189T>A
c.5853T>A (p.Asp1951Glu)
c.3042T>A (p.Asp1014Glu)
14g.91272752T>ACA390608192CCDC88Cc.5960A>T (p.Asp1987Val)
c.1394A>T (p.Asp465Val)
c.2188A>T
c.5852A>T (p.Asp1951Val)
c.3041A>T (p.Asp1014Val)
14g.91272752T>CCA390608189CCDC88Cc.5960A>G (p.Asp1987Gly)
c.1394A>G (p.Asp465Gly)
c.2188A>G
c.5852A>G (p.Asp1951Gly)
c.3041A>G (p.Asp1014Gly)
14g.91272752T>GCA390608187CCDC88Cc.5960A>C (p.Asp1987Ala)
c.1394A>C (p.Asp465Ala)
c.2188A>C
c.5852A>C (p.Asp1951Ala)
c.3041A>C (p.Asp1014Ala)
14g.91272753C>ACA390608194CCDC88Cc.5959G>T (p.Asp1987Tyr)
c.1393G>T (p.Asp465Tyr)
c.2187G>T
c.5851G>T (p.Asp1951Tyr)
c.3040G>T (p.Asp1014Tyr)
 gnomAD v4
14g.91272753C=CA2154900310CCDC88Cc.5959G= (p.Asp1987=)
c.1393G= (p.Asp465=)
c.2187G=
c.5851G= (p.Asp1951=)
c.3040G= (p.Asp1014=)
14g.91272753C>GCA390608195CCDC88Cc.5959G>C (p.Asp1987His)
c.1393G>C (p.Asp465His)
c.2187G>C
c.5851G>C (p.Asp1951His)
c.3040G>C (p.Asp1014His)
14g.91272753C>TCA7308549CCDC88Cc.5959G>A (p.Asp1987Asn)
c.1393G>A (p.Asp465Asn)
c.2187G>A
c.5851G>A (p.Asp1951Asn)
c.3040G>A (p.Asp1014Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272754G>ACA7308550CCDC88Cc.5958C>T (p.Pro1986=)
c.1392C>T (p.Pro464=)
c.2186C>T
c.5850C>T (p.Pro1950=)
c.3039C>T (p.Pro1013=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272754G>CCA487828574CCDC88Cc.5958C>G (p.Pro1986=)
c.1392C>G (p.Pro464=)
c.2186C>G
c.5850C>G (p.Pro1950=)
c.3039C>G (p.Pro1013=)
 gnomAD v4
14g.91272754G=CA2154900313CCDC88Cc.5958C= (p.Pro1986=)
c.1392C= (p.Pro464=)
c.2186C=
c.5850C= (p.Pro1950=)
c.3039C= (p.Pro1013=)
14g.91272754G>TCA487828575CCDC88Cc.5958C>A (p.Pro1986=)
c.1392C>A (p.Pro464=)
c.2186C>A
c.5850C>A (p.Pro1950=)
c.3039C>A (p.Pro1013=)
 gnomAD v4
14g.91272756delCA2626127262CCDC88Cc.5958del (p.Asp1987IlefsTer?)
c.1392del (p.Asp465IlefsTer?)
c.2186del
c.5850del (p.Asp1951IlefsTer?)
c.3039del (p.Asp1014IlefsTer?)
 gnomAD v4
14g.91272755G>ACA390608201CCDC88Cc.5957C>T (p.Pro1986Leu)
c.1391C>T (p.Pro464Leu)
c.2185C>T
c.5849C>T (p.Pro1950Leu)
c.3038C>T (p.Pro1013Leu)
 gnomAD v4
14g.91272755G>CCA390608203CCDC88Cc.5957C>G (p.Pro1986Arg)
c.1391C>G (p.Pro464Arg)
c.2185C>G
c.5849C>G (p.Pro1950Arg)
c.3038C>G (p.Pro1013Arg)
14g.91272755G>TCA390608205CCDC88Cc.5957C>A (p.Pro1986His)
c.1391C>A (p.Pro464His)
c.2185C>A
c.5849C>A (p.Pro1950His)
c.3038C>A (p.Pro1013His)
 gnomAD v4
14g.91272756G>ACA390608207CCDC88Cc.5956C>T (p.Pro1986Ser)
c.1390C>T (p.Pro464Ser)
c.2184C>T
c.5848C>T (p.Pro1950Ser)
c.3037C>T (p.Pro1013Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.91272756G>CCA390608209CCDC88Cc.5956C>G (p.Pro1986Ala)
c.1390C>G (p.Pro464Ala)
c.2184C>G
c.5848C>G (p.Pro1950Ala)
c.3037C>G (p.Pro1013Ala)
14g.91272756G=CA2154900317CCDC88Cc.5956C= (p.Pro1986=)
c.1390C= (p.Pro464=)
c.2184C=
c.5848C= (p.Pro1950=)
c.3037C= (p.Pro1013=)
14g.91272756G>TCA390608212CCDC88Cc.5956C>A (p.Pro1986Thr)
c.1390C>A (p.Pro464Thr)
c.2184C>A
c.5848C>A (p.Pro1950Thr)
c.3037C>A (p.Pro1013Thr)
 gnomAD v4
14g.91272757A>CCA487828577CCDC88Cc.5955T>G (p.Ser1985=)
c.1389T>G (p.Ser463=)
c.2183T>G
c.5847T>G (p.Ser1949=)
c.3036T>G (p.Ser1012=)
 gnomAD v4
14g.91272757A>GCA487828578CCDC88Cc.5955T>C (p.Ser1985=)
c.1389T>C (p.Ser463=)
c.2183T>C
c.5847T>C (p.Ser1949=)
c.3036T>C (p.Ser1012=)
14g.91272757A>TCA487828579CCDC88Cc.5955T>A (p.Ser1985=)
c.1389T>A (p.Ser463=)
c.2183T>A
c.5847T>A (p.Ser1949=)
c.3036T>A (p.Ser1012=)
14g.91272758G>ACA7308551CCDC88Cc.5954C>T (p.Ser1985Phe)
c.1388C>T (p.Ser463Phe)
c.2182C>T
c.5846C>T (p.Ser1949Phe)
c.3035C>T (p.Ser1012Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272758G>CCA171542CCDC88Cc.5954C>G (p.Ser1985Cys)
c.1388C>G (p.Ser463Cys)
c.2182C>G
c.5846C>G (p.Ser1949Cys)
c.3035C>G (p.Ser1012Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272758G=CA2154900322CCDC88Cc.5954C= (p.Ser1985=)
c.1388C= (p.Ser463=)
c.2182C=
c.5846C= (p.Ser1949=)
c.3035C= (p.Ser1012=)
14g.91272758G>TCA390608216CCDC88Cc.5954C>A (p.Ser1985Tyr)
c.1388C>A (p.Ser463Tyr)
c.2182C>A
c.5846C>A (p.Ser1949Tyr)
c.3035C>A (p.Ser1012Tyr)
 gnomAD v4
14g.91272759A>CCA390608222CCDC88Cc.5953T>G (p.Ser1985Ala)
c.1387T>G (p.Ser463Ala)
c.2181T>G
c.5845T>G (p.Ser1949Ala)
c.3034T>G (p.Ser1012Ala)
 gnomAD v4
14g.91272759A>GCA390608224CCDC88Cc.5953T>C (p.Ser1985Pro)
c.1387T>C (p.Ser463Pro)
c.2181T>C
c.5845T>C (p.Ser1949Pro)
c.3034T>C (p.Ser1012Pro)
 gnomAD v4
14g.91272759A>TCA390608220CCDC88Cc.5953T>A (p.Ser1985Thr)
c.1387T>A (p.Ser463Thr)
c.2181T>A
c.5845T>A (p.Ser1949Thr)
c.3034T>A (p.Ser1012Thr)
14g.91272760C>ACA487828580CCDC88Cc.5952G>T (p.Arg1984=)
c.1386G>T (p.Arg462=)
c.2180G>T
c.5844G>T (p.Arg1948=)
c.3033G>T (p.Arg1011=)
14g.91272760C>GCA487828581CCDC88Cc.5952G>C (p.Arg1984=)
c.1386G>C (p.Arg462=)
c.2180G>C
c.5844G>C (p.Arg1948=)
c.3033G>C (p.Arg1011=)
14g.91272760C>TCA487828582CCDC88Cc.5952G>A (p.Arg1984=)
c.1386G>A (p.Arg462=)
c.2180G>A
c.5844G>A (p.Arg1948=)
c.3033G>A (p.Arg1011=)
 gnomAD v4
14g.91272761C>ACA390608228CCDC88Cc.5951G>T (p.Arg1984Leu)
c.1385G>T (p.Arg462Leu)
c.2179G>T
c.5843G>T (p.Arg1948Leu)
c.3032G>T (p.Arg1011Leu)
 gnomAD v4
14g.91272761C=CA2154900332CCDC88Cc.5951G= (p.Arg1984=)
c.1385G= (p.Arg462=)
c.2179G=
c.5843G= (p.Arg1948=)
c.3032G= (p.Arg1011=)
14g.91272761C>GCA390608233CCDC88Cc.5951G>C (p.Arg1984Pro)
c.1385G>C (p.Arg462Pro)
c.2179G>C
c.5843G>C (p.Arg1948Pro)
c.3032G>C (p.Arg1011Pro)
14g.91272761C>TCA7308552CCDC88Cc.5951G>A (p.Arg1984Gln)
c.1385G>A (p.Arg462Gln)
c.2179G>A
c.5843G>A (p.Arg1948Gln)
c.3032G>A (p.Arg1011Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272762G>ACA390608235CCDC88Cc.5950C>T (p.Arg1984Trp)
c.1384C>T (p.Arg462Trp)
c.2178C>T
c.5842C>T (p.Arg1948Trp)
c.3031C>T (p.Arg1011Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272762G>CCA390608237CCDC88Cc.5950C>G (p.Arg1984Gly)
c.1384C>G (p.Arg462Gly)
c.2178C>G
c.5842C>G (p.Arg1948Gly)
c.3031C>G (p.Arg1011Gly)
 gnomAD v4
14g.91272762G=CA2154900336CCDC88Cc.5950C= (p.Arg1984=)
c.1384C= (p.Arg462=)
c.2178C=
c.5842C= (p.Arg1948=)
c.3031C= (p.Arg1011=)
14g.91272762G>TCA487828584CCDC88Cc.5950C>A (p.Arg1984=)
c.1384C>A (p.Arg462=)
c.2178C>A
c.5842C>A (p.Arg1948=)
c.3031C>A (p.Arg1011=)
 gnomAD v4
14g.91272763A>CCA487828585CCDC88Cc.5949T>G (p.Gly1983=)
c.1383T>G (p.Gly461=)
c.2177T>G
c.5841T>G (p.Gly1947=)
c.3030T>G (p.Gly1010=)
14g.91272763A>GCA487828586CCDC88Cc.5949T>C (p.Gly1983=)
c.1383T>C (p.Gly461=)
c.2177T>C
c.5841T>C (p.Gly1947=)
c.3030T>C (p.Gly1010=)
14g.91272763A>TCA487828587CCDC88Cc.5949T>A (p.Gly1983=)
c.1383T>A (p.Gly461=)
c.2177T>A
c.5841T>A (p.Gly1947=)
c.3030T>A (p.Gly1010=)
14g.91272764C>ACA390608240CCDC88Cc.5948G>T (p.Gly1983Val)
c.1382G>T (p.Gly461Val)
c.2176G>T
c.5840G>T (p.Gly1947Val)
c.3029G>T (p.Gly1010Val)
14g.91272764C=CA2154900343CCDC88Cc.5948G= (p.Gly1983=)
c.1382G= (p.Gly461=)
c.2176G=
c.5840G= (p.Gly1947=)
c.3029G= (p.Gly1010=)
14g.91272764C>GCA171540CCDC88Cc.5948G>C (p.Gly1983Ala)
c.1382G>C (p.Gly461Ala)
c.2176G>C
c.5840G>C (p.Gly1947Ala)
c.3029G>C (p.Gly1010Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272764C>TCA390608243CCDC88Cc.5948G>A (p.Gly1983Asp)
c.1382G>A (p.Gly461Asp)
c.2176G>A
c.5840G>A (p.Gly1947Asp)
c.3029G>A (p.Gly1010Asp)
14g.91272765C>ACA390608246CCDC88Cc.5947G>T (p.Gly1983Cys)
c.1381G>T (p.Gly461Cys)
c.2175G>T
c.5839G>T (p.Gly1947Cys)
c.3028G>T (p.Gly1010Cys)
14g.91272765C>GCA390608248CCDC88Cc.5947G>C (p.Gly1983Arg)
c.1381G>C (p.Gly461Arg)
c.2175G>C
c.5839G>C (p.Gly1947Arg)
c.3028G>C (p.Gly1010Arg)
14g.91272765C>TCA390608250CCDC88Cc.5947G>A (p.Gly1983Ser)
c.1381G>A (p.Gly461Ser)
c.2175G>A
c.5839G>A (p.Gly1947Ser)
c.3028G>A (p.Gly1010Ser)
14g.91272766T>ACA487828594CCDC88Cc.5946A>T (p.Pro1982=)
c.1380A>T (p.Pro460=)
c.2174A>T
c.5838A>T (p.Pro1946=)
c.3027A>T (p.Pro1009=)
14g.91272766T>CCA487828595CCDC88Cc.5946A>G (p.Pro1982=)
c.1380A>G (p.Pro460=)
c.2174A>G
c.5838A>G (p.Pro1946=)
c.3027A>G (p.Pro1009=)
 gnomAD v4
14g.91272766T>GCA487828596CCDC88Cc.5946A>C (p.Pro1982=)
c.1380A>C (p.Pro460=)
c.2174A>C
c.5838A>C (p.Pro1946=)
c.3027A>C (p.Pro1009=)
14g.91272767G>ACA390608252CCDC88Cc.5945C>T (p.Pro1982Leu)
c.1379C>T (p.Pro460Leu)
c.2173C>T
c.5837C>T (p.Pro1946Leu)
c.3026C>T (p.Pro1009Leu)
 gnomAD v4
14g.91272767G>CCA390608255CCDC88Cc.5945C>G (p.Pro1982Arg)
c.1379C>G (p.Pro460Arg)
c.2173C>G
c.5837C>G (p.Pro1946Arg)
c.3026C>G (p.Pro1009Arg)
14g.91272767G>TCA390608257CCDC88Cc.5945C>A (p.Pro1982Gln)
c.1379C>A (p.Pro460Gln)
c.2173C>A
c.5837C>A (p.Pro1946Gln)
c.3026C>A (p.Pro1009Gln)
 gnomAD v4
14g.91272768G>ACA390608265CCDC88Cc.5944C>T (p.Pro1982Ser)
c.1378C>T (p.Pro460Ser)
c.2172C>T
c.5836C>T (p.Pro1946Ser)
c.3025C>T (p.Pro1009Ser)
14g.91272768G>CCA390608262CCDC88Cc.5944C>G (p.Pro1982Ala)
c.1378C>G (p.Pro460Ala)
c.2172C>G
c.5836C>G (p.Pro1946Ala)
c.3025C>G (p.Pro1009Ala)
14g.91272768G>TCA390608261CCDC88Cc.5944C>A (p.Pro1982Thr)
c.1378C>A (p.Pro460Thr)
c.2172C>A
c.5836C>A (p.Pro1946Thr)
c.3025C>A (p.Pro1009Thr)
 gnomAD v4
14g.91272769G>ACA487828601CCDC88Cc.5943C>T (p.Ser1981=)
c.1377C>T (p.Ser459=)
c.2171C>T
c.5835C>T (p.Ser1945=)
c.3024C>T (p.Ser1008=)
14g.91272769G>CCA390608269CCDC88Cc.5943C>G (p.Ser1981Arg)
c.1377C>G (p.Ser459Arg)
c.2171C>G
c.5835C>G (p.Ser1945Arg)
c.3024C>G (p.Ser1008Arg)
14g.91272769G=CA2154900353CCDC88Cc.5943C= (p.Ser1981=)
c.1377C= (p.Ser459=)
c.2171C=
c.5835C= (p.Ser1945=)
c.3024C= (p.Ser1008=)
14g.91272769G>TCA390608270CCDC88Cc.5943C>A (p.Ser1981Arg)
c.1377C>A (p.Ser459Arg)
c.2171C>A
c.5835C>A (p.Ser1945Arg)
c.3024C>A (p.Ser1008Arg)
 dbSNP gnomAD v4
14g.91272770C>ACA390608272CCDC88Cc.5942G>T (p.Ser1981Ile)
c.1376G>T (p.Ser459Ile)
c.2170G>T
c.5834G>T (p.Ser1945Ile)
c.3023G>T (p.Ser1008Ile)
 gnomAD v4
14g.91272770C=CA2154900356CCDC88Cc.5942G= (p.Ser1981=)
c.1376G= (p.Ser459=)
c.2170G=
c.5834G= (p.Ser1945=)
c.3023G= (p.Ser1008=)
14g.91272770C>GCA390608274CCDC88Cc.5942G>C (p.Ser1981Thr)
c.1376G>C (p.Ser459Thr)
c.2170G>C
c.5834G>C (p.Ser1945Thr)
c.3023G>C (p.Ser1008Thr)
 dbSNP gnomAD v2
14g.91272770C>TCA390608275CCDC88Cc.5942G>A (p.Ser1981Asn)
c.1376G>A (p.Ser459Asn)
c.2170G>A
c.5834G>A (p.Ser1945Asn)
c.3023G>A (p.Ser1008Asn)
 gnomAD v4
14g.91272771T>ACA390608278CCDC88Cc.5941A>T (p.Ser1981Cys)
c.1375A>T (p.Ser459Cys)
c.2169A>T
c.5833A>T (p.Ser1945Cys)
c.3022A>T (p.Ser1008Cys)
14g.91272771T>CCA390608281CCDC88Cc.5941A>G (p.Ser1981Gly)
c.1375A>G (p.Ser459Gly)
c.2169A>G
c.5833A>G (p.Ser1945Gly)
c.3022A>G (p.Ser1008Gly)
 gnomAD v4
14g.91272771T>GCA7308553CCDC88Cc.5941A>C (p.Ser1981Arg)
c.1375A>C (p.Ser459Arg)
c.2169A>C
c.5833A>C (p.Ser1945Arg)
c.3022A>C (p.Ser1008Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272771T=CA2154900361CCDC88Cc.5941A= (p.Ser1981=)
c.1375A= (p.Ser459=)
c.2169A=
c.5833A= (p.Ser1945=)
c.3022A= (p.Ser1008=)
14g.91272772C>ACA390608284CCDC88Cc.5940G>T (p.Lys1980Asn)
c.1374G>T (p.Lys458Asn)
c.2168G>T
c.5832G>T (p.Lys1944Asn)
c.3021G>T (p.Lys1007Asn)
14g.91272772C>GCA390608286CCDC88Cc.5940G>C (p.Lys1980Asn)
c.1374G>C (p.Lys458Asn)
c.2168G>C
c.5832G>C (p.Lys1944Asn)
c.3021G>C (p.Lys1007Asn)
14g.91272772C>TCA487828602CCDC88Cc.5940G>A (p.Lys1980=)
c.1374G>A (p.Lys458=)
c.2168G>A
c.5832G>A (p.Lys1944=)
c.3021G>A (p.Lys1007=)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272773T>ACA390608289CCDC88Cc.5939A>T (p.Lys1980Met)
c.1373A>T (p.Lys458Met)
c.2167A>T
c.5831A>T (p.Lys1944Met)
c.3020A>T (p.Lys1007Met)
14g.91272773T>CCA390608291CCDC88Cc.5939A>G (p.Lys1980Arg)
c.1373A>G (p.Lys458Arg)
c.2167A>G
c.5831A>G (p.Lys1944Arg)
c.3020A>G (p.Lys1007Arg)
 gnomAD v4
14g.91272773T>GCA390608294CCDC88Cc.5939A>C (p.Lys1980Thr)
c.1373A>C (p.Lys458Thr)
c.2167A>C
c.5831A>C (p.Lys1944Thr)
c.3020A>C (p.Lys1007Thr)
14g.91272774T>ACA390608297CCDC88Cc.5938A>T (p.Lys1980Ter)
c.1372A>T (p.Lys458Ter)
c.2166A>T
c.5830A>T (p.Lys1944Ter)
c.3019A>T (p.Lys1007Ter)
14g.91272774T>CCA390608302CCDC88Cc.5938A>G (p.Lys1980Glu)
c.1372A>G (p.Lys458Glu)
c.2166A>G
c.5830A>G (p.Lys1944Glu)
c.3019A>G (p.Lys1007Glu)
 gnomAD v4
14g.91272774T>GCA390608300CCDC88Cc.5938A>C (p.Lys1980Gln)
c.1372A>C (p.Lys458Gln)
c.2166A>C
c.5830A>C (p.Lys1944Gln)
c.3019A>C (p.Lys1007Gln)
14g.91272775G>ACA7308554CCDC88Cc.5937C>T (p.Ala1979=)
c.1371C>T (p.Ala457=)
c.2165C>T
c.5829C>T (p.Ala1943=)
c.3018C>T (p.Ala1006=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272775G>CCA487828607CCDC88Cc.5937C>G (p.Ala1979=)
c.1371C>G (p.Ala457=)
c.2165C>G
c.5829C>G (p.Ala1943=)
c.3018C>G (p.Ala1006=)
14g.91272775G=CA2154900369CCDC88Cc.5937C= (p.Ala1979=)
c.1371C= (p.Ala457=)
c.2165C=
c.5829C= (p.Ala1943=)
c.3018C= (p.Ala1006=)
14g.91272775G>TCA487828606CCDC88Cc.5937C>A (p.Ala1979=)
c.1371C>A (p.Ala457=)
c.2165C>A
c.5829C>A (p.Ala1943=)
c.3018C>A (p.Ala1006=)
14g.91272776delCA2626127264CCDC88Cc.5937del (p.Lys1980ArgfsTer?)
c.1371del (p.Lys458ArgfsTer?)
c.2165del
c.5829del (p.Lys1944ArgfsTer?)
c.3018del (p.Lys1007ArgfsTer?)
 gnomAD v4
14g.91272776G>ACA265517316CCDC88Cc.5936C>T (p.Ala1979Val)
c.1370C>T (p.Ala457Val)
c.2164C>T
c.5828C>T (p.Ala1943Val)
c.3017C>T (p.Ala1006Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91272776G>CCA390608307CCDC88Cc.5936C>G (p.Ala1979Gly)
c.1370C>G (p.Ala457Gly)
c.2164C>G
c.5828C>G (p.Ala1943Gly)
c.3017C>G (p.Ala1006Gly)
14g.91272776G=CA2154900374CCDC88Cc.5936C= (p.Ala1979=)
c.1370C= (p.Ala457=)
c.2164C=
c.5828C= (p.Ala1943=)
c.3017C= (p.Ala1006=)
14g.91272776G>TCA390608310CCDC88Cc.5936C>A (p.Ala1979Asp)
c.1370C>A (p.Ala457Asp)
c.2164C>A
c.5828C>A (p.Ala1943Asp)
c.3017C>A (p.Ala1006Asp)
 gnomAD v4
14g.91272777C>ACA390608313CCDC88Cc.5935G>T (p.Ala1979Ser)
c.1369G>T (p.Ala457Ser)
c.2163G>T
c.5827G>T (p.Ala1943Ser)
c.3016G>T (p.Ala1006Ser)
 gnomAD v4
14g.91272777C>GCA390608315CCDC88Cc.5935G>C (p.Ala1979Pro)
c.1369G>C (p.Ala457Pro)
c.2163G>C
c.5827G>C (p.Ala1943Pro)
c.3016G>C (p.Ala1006Pro)
14g.91272777C>TCA390608316CCDC88Cc.5935G>A (p.Ala1979Thr)
c.1369G>A (p.Ala457Thr)
c.2163G>A
c.5827G>A (p.Ala1943Thr)
c.3016G>A (p.Ala1006Thr)
 gnomAD v4
14g.91272778C>ACA487828614CCDC88Cc.5934G>T (p.Pro1978=)
c.1368G>T (p.Pro456=)
c.2162G>T
c.5826G>T (p.Pro1942=)
c.3015G>T (p.Pro1005=)
14g.91272778C=CA2154900384CCDC88Cc.5934G= (p.Pro1978=)
c.1368G= (p.Pro456=)
c.2162G=
c.5826G= (p.Pro1942=)
c.3015G= (p.Pro1005=)
14g.91272778C>GCA487828613CCDC88Cc.5934G>C (p.Pro1978=)
c.1368G>C (p.Pro456=)
c.2162G>C
c.5826G>C (p.Pro1942=)
c.3015G>C (p.Pro1005=)
 ClinVar
14g.91272778C>TCA7308555CCDC88Cc.5934G>A (p.Pro1978=)
c.1368G>A (p.Pro456=)
c.2162G>A
c.5826G>A (p.Pro1942=)
c.3015G>A (p.Pro1005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272779G>ACA7308556CCDC88Cc.5933C>T (p.Pro1978Leu)
c.1367C>T (p.Pro456Leu)
c.2161C>T
c.5825C>T (p.Pro1942Leu)
c.3014C>T (p.Pro1005Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272779G>CCA390608325CCDC88Cc.5933C>G (p.Pro1978Arg)
c.1367C>G (p.Pro456Arg)
c.2161C>G
c.5825C>G (p.Pro1942Arg)
c.3014C>G (p.Pro1005Arg)
14g.91272779G=CA2154900399CCDC88Cc.5933C= (p.Pro1978=)
c.1367C= (p.Pro456=)
c.2161C=
c.5825C= (p.Pro1942=)
c.3014C= (p.Pro1005=)
14g.91272779G>TCA390608328CCDC88Cc.5933C>A (p.Pro1978Gln)
c.1367C>A (p.Pro456Gln)
c.2161C>A
c.5825C>A (p.Pro1942Gln)
c.3014C>A (p.Pro1005Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.91272780dupCA265517326CCDC88Cc.5933dup (p.Ala1979GlyfsTer?)
c.1367dup (p.Ala457GlyfsTer?)
c.2161dup
c.5825dup (p.Ala1943GlyfsTer?)
c.3014dup (p.Ala1006GlyfsTer?)
 dbSNP
14g.91272780G>ACA390608331CCDC88Cc.5932C>T (p.Pro1978Ser)
c.1366C>T (p.Pro456Ser)
c.2160C>T
c.5824C>T (p.Pro1942Ser)
c.3013C>T (p.Pro1005Ser)
14g.91272780G>CCA390608333CCDC88Cc.5932C>G (p.Pro1978Ala)
c.1366C>G (p.Pro456Ala)
c.2160C>G
c.5824C>G (p.Pro1942Ala)
c.3013C>G (p.Pro1005Ala)
14g.91272780G>TCA390608336CCDC88Cc.5932C>A (p.Pro1978Thr)
c.1366C>A (p.Pro456Thr)
c.2160C>A
c.5824C>A (p.Pro1942Thr)
c.3013C>A (p.Pro1005Thr)
 gnomAD v4
14g.91272781A=CA2154900406CCDC88Cc.5931T= (p.Leu1977=)
c.1365T= (p.Leu455=)
c.2159T=
c.5823T= (p.Leu1941=)
c.3012T= (p.Leu1004=)
14g.91272781A>CCA487828615CCDC88Cc.5931T>G (p.Leu1977=)
c.1365T>G (p.Leu455=)
c.2159T>G
c.5823T>G (p.Leu1941=)
c.3012T>G (p.Leu1004=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272781A>GCA487828618CCDC88Cc.5931T>C (p.Leu1977=)
c.1365T>C (p.Leu455=)
c.2159T>C
c.5823T>C (p.Leu1941=)
c.3012T>C (p.Leu1004=)
 dbSNP
14g.91272781A>TCA487828616CCDC88Cc.5931T>A (p.Leu1977=)
c.1365T>A (p.Leu455=)
c.2159T>A
c.5823T>A (p.Leu1941=)
c.3012T>A (p.Leu1004=)
14g.91272782A>CCA390608344CCDC88Cc.5930T>G (p.Leu1977Arg)
c.1364T>G (p.Leu455Arg)
c.2158T>G
c.5822T>G (p.Leu1941Arg)
c.3011T>G (p.Leu1004Arg)
14g.91272782A>GCA390608341CCDC88Cc.5930T>C (p.Leu1977Pro)
c.1364T>C (p.Leu455Pro)
c.2158T>C
c.5822T>C (p.Leu1941Pro)
c.3011T>C (p.Leu1004Pro)
14g.91272782A>TCA390608339CCDC88Cc.5930T>A (p.Leu1977His)
c.1364T>A (p.Leu455His)
c.2158T>A
c.5822T>A (p.Leu1941His)
c.3011T>A (p.Leu1004His)
14g.91272783G>ACA390608350CCDC88Cc.5929C>T (p.Leu1977Phe)
c.1363C>T (p.Leu455Phe)
c.2157C>T
c.5821C>T (p.Leu1941Phe)
c.3010C>T (p.Leu1004Phe)
14g.91272783G>CCA390608352CCDC88Cc.5929C>G (p.Leu1977Val)
c.1363C>G (p.Leu455Val)
c.2157C>G
c.5821C>G (p.Leu1941Val)
c.3010C>G (p.Leu1004Val)
14g.91272783G>TCA390608357CCDC88Cc.5929C>A (p.Leu1977Ile)
c.1363C>A (p.Leu455Ile)
c.2157C>A
c.5821C>A (p.Leu1941Ile)
c.3010C>A (p.Leu1004Ile)
 gnomAD v4
14g.91272783_91272784delinsGCCA2154900414CCDC88Cc.5928_5929delinsGC (p.Gly1976=)
c.1362_1363delinsGC (p.Gly454=)
c.2156_2157delinsGC
c.5820_5821delinsGC (p.Gly1940=)
c.3009_3010delinsGC (p.Gly1003=)
14g.91272784C>ACA487828624CCDC88Cc.5928G>T (p.Gly1976=)
c.1362G>T (p.Gly454=)
c.2156G>T
c.5820G>T (p.Gly1940=)
c.3009G>T (p.Gly1003=)
 gnomAD v4
14g.91272784C=CA2154900422CCDC88Cc.5928G= (p.Gly1976=)
c.1362G= (p.Gly454=)
c.2156G=
c.5820G= (p.Gly1940=)
c.3009G= (p.Gly1003=)
14g.91272784C>GCA487828625CCDC88Cc.5928G>C (p.Gly1976=)
c.1362G>C (p.Gly454=)
c.2156G>C
c.5820G>C (p.Gly1940=)
c.3009G>C (p.Gly1003=)
14g.91272784C>TCA265517332CCDC88Cc.5928G>A (p.Gly1976=)
c.1362G>A (p.Gly454=)
c.2156G>A
c.5820G>A (p.Gly1940=)
c.3009G>A (p.Gly1003=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272787delCA616112270CCDC88Cc.5928del (p.Leu1977PhefsTer?)
c.1362del (p.Leu455PhefsTer?)
c.2156del
c.5820del (p.Leu1941PhefsTer?)
c.3009del (p.Leu1004PhefsTer?)
 dbSNP gnomAD v2
14g.91272785C>ACA390608361CCDC88Cc.5927G>T (p.Gly1976Val)
c.1361G>T (p.Gly454Val)
c.2155G>T
c.5819G>T (p.Gly1940Val)
c.3008G>T (p.Gly1003Val)
 gnomAD v4
14g.91272785C=CA2154900426CCDC88Cc.5927G= (p.Gly1976=)
c.1361G= (p.Gly454=)
c.2155G=
c.5819G= (p.Gly1940=)
c.3008G= (p.Gly1003=)
14g.91272785C>GCA7308557CCDC88Cc.5927G>C (p.Gly1976Ala)
c.1361G>C (p.Gly454Ala)
c.2155G>C
c.5819G>C (p.Gly1940Ala)
c.3008G>C (p.Gly1003Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272785C>TCA390608364CCDC88Cc.5927G>A (p.Gly1976Glu)
c.1361G>A (p.Gly454Glu)
c.2155G>A
c.5819G>A (p.Gly1940Glu)
c.3008G>A (p.Gly1003Glu)
14g.91272786C>ACA390608367CCDC88Cc.5926G>T (p.Gly1976Trp)
c.1360G>T (p.Gly454Trp)
c.2154G>T
c.5818G>T (p.Gly1940Trp)
c.3007G>T (p.Gly1003Trp)
14g.91272786C>GCA390608370CCDC88Cc.5926G>C (p.Gly1976Arg)
c.1360G>C (p.Gly454Arg)
c.2154G>C
c.5818G>C (p.Gly1940Arg)
c.3007G>C (p.Gly1003Arg)
14g.91272786C>TCA390608372CCDC88Cc.5926G>A (p.Gly1976Arg)
c.1360G>A (p.Gly454Arg)
c.2154G>A
c.5818G>A (p.Gly1940Arg)
c.3007G>A (p.Gly1003Arg)
 COSMIC COSMIC COSMIC
14g.91272787C>ACA390608375CCDC88Cc.5925G>T (p.Glu1975Asp)
c.1359G>T (p.Glu453Asp)
c.2153G>T
c.5817G>T (p.Glu1939Asp)
c.3006G>T (p.Glu1002Asp)
 gnomAD v4
14g.91272787C=CA2154900432CCDC88Cc.5925G= (p.Glu1975=)
c.1359G= (p.Glu453=)
c.2153G=
c.5817G= (p.Glu1939=)
c.3006G= (p.Glu1002=)
14g.91272787C>GCA390608376CCDC88Cc.5925G>C (p.Glu1975Asp)
c.1359G>C (p.Glu453Asp)
c.2153G>C
c.5817G>C (p.Glu1939Asp)
c.3006G>C (p.Glu1002Asp)
 gnomAD v4
14g.91272787C>TCA487828631CCDC88Cc.5925G>A (p.Glu1975=)
c.1359G>A (p.Glu453=)
c.2153G>A
c.5817G>A (p.Glu1939=)
c.3006G>A (p.Glu1002=)
 ClinVar dbSNP
14g.91272788_91272789delCA2580088911CCDC88Cc.5924_5925del (p.Glu1975GlyfsTer?)
c.1358_1359del (p.Glu453GlyfsTer?)
c.2152_2153del
c.5816_5817del (p.Glu1939GlyfsTer?)
c.3005_3006del (p.Glu1002GlyfsTer?)
 ClinVar
14g.91272788T>ACA390608384CCDC88Cc.5924A>T (p.Glu1975Val)
c.1358A>T (p.Glu453Val)
c.2152A>T
c.5816A>T (p.Glu1939Val)
c.3005A>T (p.Glu1002Val)
14g.91272788T>CCA390608381CCDC88Cc.5924A>G (p.Glu1975Gly)
c.1358A>G (p.Glu453Gly)
c.2152A>G
c.5816A>G (p.Glu1939Gly)
c.3005A>G (p.Glu1002Gly)
14g.91272788T>GCA390608379CCDC88Cc.5924A>C (p.Glu1975Ala)
c.1358A>C (p.Glu453Ala)
c.2152A>C
c.5816A>C (p.Glu1939Ala)
c.3005A>C (p.Glu1002Ala)
 gnomAD v4
14g.91272789C>ACA390608387CCDC88Cc.5923G>T (p.Glu1975Ter)
c.1357G>T (p.Glu453Ter)
c.2151G>T
c.5815G>T (p.Glu1939Ter)
c.3004G>T (p.Glu1002Ter)
14g.91272789C=CA2154900437CCDC88Cc.5923G= (p.Glu1975=)
c.1357G= (p.Glu453=)
c.2151G=
c.5815G= (p.Glu1939=)
c.3004G= (p.Glu1002=)
14g.91272789C>GCA390608389CCDC88Cc.5923G>C (p.Glu1975Gln)
c.1357G>C (p.Glu453Gln)
c.2151G>C
c.5815G>C (p.Glu1939Gln)
c.3004G>C (p.Glu1002Gln)
14g.91272789C>TCA7308558CCDC88Cc.5923G>A (p.Glu1975Lys)
c.1357G>A (p.Glu453Lys)
c.2151G>A
c.5815G>A (p.Glu1939Lys)
c.3004G>A (p.Glu1002Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272790A=CA2154900442CCDC88Cc.5922T= (p.Ser1974=)
c.1356T= (p.Ser452=)
c.2150T=
c.5814T= (p.Ser1938=)
c.3003T= (p.Ser1001=)
14g.91272790A>CCA7308559CCDC88Cc.5922T>G (p.Ser1974Arg)
c.1356T>G (p.Ser452Arg)
c.2150T>G
c.5814T>G (p.Ser1938Arg)
c.3003T>G (p.Ser1001Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272790A>GCA487828634CCDC88Cc.5922T>C (p.Ser1974=)
c.1356T>C (p.Ser452=)
c.2150T>C
c.5814T>C (p.Ser1938=)
c.3003T>C (p.Ser1001=)
 gnomAD v4
14g.91272790A>TCA390608393CCDC88Cc.5922T>A (p.Ser1974Arg)
c.1356T>A (p.Ser452Arg)
c.2150T>A
c.5814T>A (p.Ser1938Arg)
c.3003T>A (p.Ser1001Arg)
14g.91272791C>ACA390608396CCDC88Cc.5921G>T (p.Ser1974Ile)
c.1355G>T (p.Ser452Ile)
c.2149G>T
c.5813G>T (p.Ser1938Ile)
c.3002G>T (p.Ser1001Ile)
 gnomAD v4
14g.91272791C>GCA390608399CCDC88Cc.5921G>C (p.Ser1974Thr)
c.1355G>C (p.Ser452Thr)
c.2149G>C
c.5813G>C (p.Ser1938Thr)
c.3002G>C (p.Ser1001Thr)
14g.91272791C>TCA390608401CCDC88Cc.5921G>A (p.Ser1974Asn)
c.1355G>A (p.Ser452Asn)
c.2149G>A
c.5813G>A (p.Ser1938Asn)
c.3002G>A (p.Ser1001Asn)
14g.91272792T>ACA390608404CCDC88Cc.5920A>T (p.Ser1974Cys)
c.1354A>T (p.Ser452Cys)
c.2148A>T
c.5812A>T (p.Ser1938Cys)
c.3001A>T (p.Ser1001Cys)
14g.91272792T>CCA390608406CCDC88Cc.5920A>G (p.Ser1974Gly)
c.1354A>G (p.Ser452Gly)
c.2148A>G
c.5812A>G (p.Ser1938Gly)
c.3001A>G (p.Ser1001Gly)
 gnomAD v4
14g.91272792T>GCA390608407CCDC88Cc.5920A>C (p.Ser1974Arg)
c.1354A>C (p.Ser452Arg)
c.2148A>C
c.5812A>C (p.Ser1938Arg)
c.3001A>C (p.Ser1001Arg)
14g.91272793G>ACA487828637CCDC88Cc.5919C>T (p.Cys1973=)
c.1353C>T (p.Cys451=)
c.2147C>T
c.5811C>T (p.Cys1937=)
c.3000C>T (p.Cys1000=)
 gnomAD v4
14g.91272793G>CCA390608410CCDC88Cc.5919C>G (p.Cys1973Trp)
c.1353C>G (p.Cys451Trp)
c.2147C>G
c.5811C>G (p.Cys1937Trp)
c.3000C>G (p.Cys1000Trp)
14g.91272793G>TCA390608412CCDC88Cc.5919C>A (p.Cys1973Ter)
c.1353C>A (p.Cys451Ter)
c.2147C>A
c.5811C>A (p.Cys1937Ter)
c.3000C>A (p.Cys1000Ter)
14g.91272794C>ACA390608418CCDC88Cc.5918G>T (p.Cys1973Phe)
c.1352G>T (p.Cys451Phe)
c.2146G>T
c.5810G>T (p.Cys1937Phe)
c.2999G>T (p.Cys1000Phe)
 gnomAD v4
14g.91272794C>GCA390608415CCDC88Cc.5918G>C (p.Cys1973Ser)
c.1352G>C (p.Cys451Ser)
c.2146G>C
c.5810G>C (p.Cys1937Ser)
c.2999G>C (p.Cys1000Ser)
14g.91272794C>TCA390608416CCDC88Cc.5918G>A (p.Cys1973Tyr)
c.1352G>A (p.Cys451Tyr)
c.2146G>A
c.5810G>A (p.Cys1937Tyr)
c.2999G>A (p.Cys1000Tyr)
 gnomAD v4
14g.91272795A>CCA390608420CCDC88Cc.5917T>G (p.Cys1973Gly)
c.1351T>G (p.Cys451Gly)
c.2145T>G
c.5809T>G (p.Cys1937Gly)
c.2998T>G (p.Cys1000Gly)
14g.91272795A>GCA390608422CCDC88Cc.5917T>C (p.Cys1973Arg)
c.1351T>C (p.Cys451Arg)
c.2145T>C
c.5809T>C (p.Cys1937Arg)
c.2998T>C (p.Cys1000Arg)
14g.91272795A>TCA390608424CCDC88Cc.5917T>A (p.Cys1973Ser)
c.1351T>A (p.Cys451Ser)
c.2145T>A
c.5809T>A (p.Cys1937Ser)
c.2998T>A (p.Cys1000Ser)
14g.91272796delCA2626127301CCDC88Cc.5916del (p.Cys1973AlafsTer?)
c.1350del (p.Cys451AlafsTer?)
c.2144del
c.5808del (p.Cys1937AlafsTer?)
c.2997del (p.Cys1000AlafsTer?)
 gnomAD v4
14g.91272796G>ACA487828641CCDC88Cc.5916C>T (p.Gly1972=)
c.1350C>T (p.Gly450=)
c.2144C>T
c.5808C>T (p.Gly1936=)
c.2997C>T (p.Gly999=)
 gnomAD v4
14g.91272796G>CCA487828642CCDC88Cc.5916C>G (p.Gly1972=)
c.1350C>G (p.Gly450=)
c.2144C>G
c.5808C>G (p.Gly1936=)
c.2997C>G (p.Gly999=)
14g.91272796G=CA2154900449CCDC88Cc.5916C= (p.Gly1972=)
c.1350C= (p.Gly450=)
c.2144C=
c.5808C= (p.Gly1936=)
c.2997C= (p.Gly999=)
14g.91272796G>TCA7308560CCDC88Cc.5916C>A (p.Gly1972=)
c.1350C>A (p.Gly450=)
c.2144C>A
c.5808C>A (p.Gly1936=)
c.2997C>A (p.Gly999=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272797C>ACA390608429CCDC88Cc.5915G>T (p.Gly1972Val)
c.1349G>T (p.Gly450Val)
c.2143G>T
c.5807G>T (p.Gly1936Val)
c.2996G>T (p.Gly999Val)
 gnomAD v4
14g.91272797C>GCA390608432CCDC88Cc.5915G>C (p.Gly1972Ala)
c.1349G>C (p.Gly450Ala)
c.2143G>C
c.5807G>C (p.Gly1936Ala)
c.2996G>C (p.Gly999Ala)
14g.91272797C>TCA390608434CCDC88Cc.5915G>A (p.Gly1972Asp)
c.1349G>A (p.Gly450Asp)
c.2143G>A
c.5807G>A (p.Gly1936Asp)
c.2996G>A (p.Gly999Asp)
 gnomAD v4
14g.91272798C>ACA390608438CCDC88Cc.5914G>T (p.Gly1972Cys)
c.1348G>T (p.Gly450Cys)
c.2142G>T
c.5806G>T (p.Gly1936Cys)
c.2995G>T (p.Gly999Cys)
14g.91272798C>GCA390608440CCDC88Cc.5914G>C (p.Gly1972Arg)
c.1348G>C (p.Gly450Arg)
c.2142G>C
c.5806G>C (p.Gly1936Arg)
c.2995G>C (p.Gly999Arg)
14g.91272798C>TCA390608441CCDC88Cc.5914G>A (p.Gly1972Ser)
c.1348G>A (p.Gly450Ser)
c.2142G>A
c.5806G>A (p.Gly1936Ser)
c.2995G>A (p.Gly999Ser)
14g.91272799C>ACA390608445CCDC88Cc.5913G>T (p.Gln1971His)
c.1347G>T (p.Gln449His)
c.2141G>T
c.5805G>T (p.Gln1935His)
c.2994G>T (p.Gln998His)
14g.91272799C=CA2154900452CCDC88Cc.5913G= (p.Gln1971=)
c.1347G= (p.Gln449=)
c.2141G=
c.5805G= (p.Gln1935=)
c.2994G= (p.Gln998=)
14g.91272799C>GCA390608446CCDC88Cc.5913G>C (p.Gln1971His)
c.1347G>C (p.Gln449His)
c.2141G>C
c.5805G>C (p.Gln1935His)
c.2994G>C (p.Gln998His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272799C>TCA487828643CCDC88Cc.5913G>A (p.Gln1971=)
c.1347G>A (p.Gln449=)
c.2141G>A
c.5805G>A (p.Gln1935=)
c.2994G>A (p.Gln998=)
14g.91272800T>ACA390608453CCDC88Cc.5912A>T (p.Gln1971Leu)
c.1346A>T (p.Gln449Leu)
c.2140A>T
c.5804A>T (p.Gln1935Leu)
c.2993A>T (p.Gln998Leu)
14g.91272800T>CCA390608452CCDC88Cc.5912A>G (p.Gln1971Arg)
c.1346A>G (p.Gln449Arg)
c.2140A>G
c.5804A>G (p.Gln1935Arg)
c.2993A>G (p.Gln998Arg)
 gnomAD v4
14g.91272800T>GCA390608449CCDC88Cc.5912A>C (p.Gln1971Pro)
c.1346A>C (p.Gln449Pro)
c.2140A>C
c.5804A>C (p.Gln1935Pro)
c.2993A>C (p.Gln998Pro)
14g.91272801G>ACA390608459CCDC88Cc.5911C>T (p.Gln1971Ter)
c.1345C>T (p.Gln449Ter)
c.2139C>T
c.5803C>T (p.Gln1935Ter)
c.2992C>T (p.Gln998Ter)
 dbSNP gnomAD v4
14g.91272801G>CCA390608457CCDC88Cc.5911C>G (p.Gln1971Glu)
c.1345C>G (p.Gln449Glu)
c.2139C>G
c.5803C>G (p.Gln1935Glu)
c.2992C>G (p.Gln998Glu)
14g.91272801G=CA2154900457CCDC88Cc.5911C= (p.Gln1971=)
c.1345C= (p.Gln449=)
c.2139C=
c.5803C= (p.Gln1935=)
c.2992C= (p.Gln998=)
14g.91272801G>TCA390608461CCDC88Cc.5911C>A (p.Gln1971Lys)
c.1345C>A (p.Gln449Lys)
c.2139C>A
c.5803C>A (p.Gln1935Lys)
c.2992C>A (p.Gln998Lys)
 gnomAD v4
14g.91272802C>ACA487828647CCDC88Cc.5910G>T (p.Gly1970=)
c.1344G>T (p.Gly448=)
c.2138G>T
c.5802G>T (p.Gly1934=)
c.2991G>T (p.Gly997=)
 gnomAD v4
14g.91272802C>GCA487828649CCDC88Cc.5910G>C (p.Gly1970=)
c.1344G>C (p.Gly448=)
c.2138G>C
c.5802G>C (p.Gly1934=)
c.2991G>C (p.Gly997=)
14g.91272802C>TCA487828648CCDC88Cc.5910G>A (p.Gly1970=)
c.1344G>A (p.Gly448=)
c.2138G>A
c.5802G>A (p.Gly1934=)
c.2991G>A (p.Gly997=)
 gnomAD v4
14g.91272805delCA2626127308CCDC88Cc.5910del (p.Gln1971ArgfsTer?)
c.1344del (p.Gln449ArgfsTer?)
c.2138del
c.5802del (p.Gln1935ArgfsTer?)
c.2991del (p.Gln998ArgfsTer?)
 gnomAD v4
14g.91272803C>ACA390608465CCDC88Cc.5909G>T (p.Gly1970Val)
c.1343G>T (p.Gly448Val)
c.2137G>T
c.5801G>T (p.Gly1934Val)
c.2990G>T (p.Gly997Val)
 gnomAD v4
14g.91272803C>GCA390608467CCDC88Cc.5909G>C (p.Gly1970Ala)
c.1343G>C (p.Gly448Ala)
c.2137G>C
c.5801G>C (p.Gly1934Ala)
c.2990G>C (p.Gly997Ala)
14g.91272803C>TCA390608469CCDC88Cc.5909G>A (p.Gly1970Glu)
c.1343G>A (p.Gly448Glu)
c.2137G>A
c.5801G>A (p.Gly1934Glu)
c.2990G>A (p.Gly997Glu)
 gnomAD v4
14g.91272804C>ACA390608473CCDC88Cc.5908G>T (p.Gly1970Trp)
c.1342G>T (p.Gly448Trp)
c.2136G>T
c.5800G>T (p.Gly1934Trp)
c.2989G>T (p.Gly997Trp)
14g.91272804C>GCA390608475CCDC88Cc.5908G>C (p.Gly1970Arg)
c.1342G>C (p.Gly448Arg)
c.2136G>C
c.5800G>C (p.Gly1934Arg)
c.2989G>C (p.Gly997Arg)
14g.91272804C>TCA390608478CCDC88Cc.5908G>A (p.Gly1970Arg)
c.1342G>A (p.Gly448Arg)
c.2136G>A
c.5800G>A (p.Gly1934Arg)
c.2989G>A (p.Gly997Arg)
14g.91272805C>ACA487828652CCDC88Cc.5907G>T (p.Pro1969=)
c.1341G>T (p.Pro447=)
c.2135G>T
c.5799G>T (p.Pro1933=)
c.2988G>T (p.Pro996=)
 gnomAD v4
14g.91272805C=CA2154900460CCDC88Cc.5907G= (p.Pro1969=)
c.1341G= (p.Pro447=)
c.2135G=
c.5799G= (p.Pro1933=)
c.2988G= (p.Pro996=)
14g.91272805C>GCA487828653CCDC88Cc.5907G>C (p.Pro1969=)
c.1341G>C (p.Pro447=)
c.2135G>C
c.5799G>C (p.Pro1933=)
c.2988G>C (p.Pro996=)
 gnomAD v4
14g.91272805C>TCA7308561CCDC88Cc.5907G>A (p.Pro1969=)
c.1341G>A (p.Pro447=)
c.2135G>A
c.5799G>A (p.Pro1933=)
c.2988G>A (p.Pro996=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272806G>ACA7308562CCDC88Cc.5906C>T (p.Pro1969Leu)
c.1340C>T (p.Pro447Leu)
c.2134C>T
c.5798C>T (p.Pro1933Leu)
c.2987C>T (p.Pro996Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272806G>CCA390608485CCDC88Cc.5906C>G (p.Pro1969Arg)
c.1340C>G (p.Pro447Arg)
c.2134C>G
c.5798C>G (p.Pro1933Arg)
c.2987C>G (p.Pro996Arg)
14g.91272806G=CA2154900467CCDC88Cc.5906C= (p.Pro1969=)
c.1340C= (p.Pro447=)
c.2134C=
c.5798C= (p.Pro1933=)
c.2987C= (p.Pro996=)
14g.91272806G>TCA390608487CCDC88Cc.5906C>A (p.Pro1969Gln)
c.1340C>A (p.Pro447Gln)
c.2134C>A
c.5798C>A (p.Pro1933Gln)
c.2987C>A (p.Pro996Gln)
 gnomAD v4
14g.91272807G>ACA7308563CCDC88Cc.5905C>T (p.Pro1969Ser)
c.1339C>T (p.Pro447Ser)
c.2133C>T
c.5797C>T (p.Pro1933Ser)
c.2986C>T (p.Pro996Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272807G>CCA390608492CCDC88Cc.5905C>G (p.Pro1969Ala)
c.1339C>G (p.Pro447Ala)
c.2133C>G
c.5797C>G (p.Pro1933Ala)
c.2986C>G (p.Pro996Ala)
14g.91272807G=CA2154900471CCDC88Cc.5905C= (p.Pro1969=)
c.1339C= (p.Pro447=)
c.2133C=
c.5797C= (p.Pro1933=)
c.2986C= (p.Pro996=)
14g.91272807G>TCA390608494CCDC88Cc.5905C>A (p.Pro1969Thr)
c.1339C>A (p.Pro447Thr)
c.2133C>A
c.5797C>A (p.Pro1933Thr)
c.2986C>A (p.Pro996Thr)
 gnomAD v4
14g.91272808G>ACA7308564CCDC88Cc.5904C>T (p.Val1968=)
c.1338C>T (p.Val446=)
c.2132C>T
c.5796C>T (p.Val1932=)
c.2985C>T (p.Val995=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272808G>CCA487828654CCDC88Cc.5904C>G (p.Val1968=)
c.1338C>G (p.Val446=)
c.2132C>G
c.5796C>G (p.Val1932=)
c.2985C>G (p.Val995=)
14g.91272808G=CA2154900478CCDC88Cc.5904C= (p.Val1968=)
c.1338C= (p.Val446=)
c.2132C=
c.5796C= (p.Val1932=)
c.2985C= (p.Val995=)
14g.91272808G>TCA487828656CCDC88Cc.5904C>A (p.Val1968=)
c.1338C>A (p.Val446=)
c.2132C>A
c.5796C>A (p.Val1932=)
c.2985C>A (p.Val995=)
 gnomAD v4
14g.91272809A>CCA390608498CCDC88Cc.5903T>G (p.Val1968Gly)
c.1337T>G (p.Val446Gly)
c.2131T>G
c.5795T>G (p.Val1932Gly)
c.2984T>G (p.Val995Gly)
14g.91272809A>GCA390608501CCDC88Cc.5903T>C (p.Val1968Ala)
c.1337T>C (p.Val446Ala)
c.2131T>C
c.5795T>C (p.Val1932Ala)
c.2984T>C (p.Val995Ala)
 gnomAD v4
14g.91272809A>TCA390608504CCDC88Cc.5903T>A (p.Val1968Asp)
c.1337T>A (p.Val446Asp)
c.2131T>A
c.5795T>A (p.Val1932Asp)
c.2984T>A (p.Val995Asp)
14g.91272810C>ACA390608507CCDC88Cc.5902G>T (p.Val1968Phe)
c.1336G>T (p.Val446Phe)
c.2130G>T
c.5794G>T (p.Val1932Phe)
c.2983G>T (p.Val995Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91272810C=CA2154900486CCDC88Cc.5902G= (p.Val1968=)
c.1336G= (p.Val446=)
c.2130G=
c.5794G= (p.Val1932=)
c.2983G= (p.Val995=)
14g.91272810C>GCA390608509CCDC88Cc.5902G>C (p.Val1968Leu)
c.1336G>C (p.Val446Leu)
c.2130G>C
c.5794G>C (p.Val1932Leu)
c.2983G>C (p.Val995Leu)
14g.91272810C>TCA390608512CCDC88Cc.5902G>A (p.Val1968Ile)
c.1336G>A (p.Val446Ile)
c.2130G>A
c.5794G>A (p.Val1932Ile)
c.2983G>A (p.Val995Ile)
14g.91272813dupCA2626127324CCDC88Cc.5902dup (p.Val1968GlyfsTer8)
c.1336dup (p.Val446GlyfsTer8)
c.2130dup
c.5794dup (p.Val1932GlyfsTer8)
c.2983dup (p.Val995GlyfsTer8)
 gnomAD v4
14g.91272813delCA2626127325CCDC88Cc.5902del (p.Val1968SerfsTer?)
c.1336del (p.Val446SerfsTer?)
c.2130del
c.5794del (p.Val1932SerfsTer?)
c.2983del (p.Val995SerfsTer?)
 gnomAD v4
14g.91272811C>ACA487828663CCDC88Cc.5901G>T (p.Gly1967=)
c.1335G>T (p.Gly445=)
c.2129G>T
c.5793G>T (p.Gly1931=)
c.2982G>T (p.Gly994=)
 dbSNP
14g.91272811C=CA2154900493CCDC88Cc.5901G= (p.Gly1967=)
c.1335G= (p.Gly445=)
c.2129G=
c.5793G= (p.Gly1931=)
c.2982G= (p.Gly994=)
14g.91272811C>GCA487828661CCDC88Cc.5901G>C (p.Gly1967=)
c.1335G>C (p.Gly445=)
c.2129G>C
c.5793G>C (p.Gly1931=)
c.2982G>C (p.Gly994=)
 dbSNP
14g.91272811C>TCA487828662CCDC88Cc.5901G>A (p.Gly1967=)
c.1335G>A (p.Gly445=)
c.2129G>A
c.5793G>A (p.Gly1931=)
c.2982G>A (p.Gly994=)
 gnomAD v4
14g.91272812C>ACA390608515CCDC88Cc.5900G>T (p.Gly1967Val)
c.1334G>T (p.Gly445Val)
c.2128G>T
c.5792G>T (p.Gly1931Val)
c.2981G>T (p.Gly994Val)
14g.91272812C>GCA390608517CCDC88Cc.5900G>C (p.Gly1967Ala)
c.1334G>C (p.Gly445Ala)
c.2128G>C
c.5792G>C (p.Gly1931Ala)
c.2981G>C (p.Gly994Ala)
14g.91272812C>TCA390608519CCDC88Cc.5900G>A (p.Gly1967Glu)
c.1334G>A (p.Gly445Glu)
c.2128G>A
c.5792G>A (p.Gly1931Glu)
c.2981G>A (p.Gly994Glu)
 gnomAD v4
14g.91272813C>ACA390608522CCDC88Cc.5899G>T (p.Gly1967Trp)
c.1333G>T (p.Gly445Trp)
c.2127G>T
c.5791G>T (p.Gly1931Trp)
c.2980G>T (p.Gly994Trp)
 dbSNP gnomAD v4
14g.91272813C=CA2154900498CCDC88Cc.5899G= (p.Gly1967=)
c.1333G= (p.Gly445=)
c.2127G=
c.5791G= (p.Gly1931=)
c.2980G= (p.Gly994=)
14g.91272813C>GCA390608524CCDC88Cc.5899G>C (p.Gly1967Arg)
c.1333G>C (p.Gly445Arg)
c.2127G>C
c.5791G>C (p.Gly1931Arg)
c.2980G>C (p.Gly994Arg)
 gnomAD v4
14g.91272813C>TCA7308565CCDC88Cc.5899G>A (p.Gly1967Arg)
c.1333G>A (p.Gly445Arg)
c.2127G>A
c.5791G>A (p.Gly1931Arg)
c.2980G>A (p.Gly994Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91272814delCA2626127364CCDC88Cc.5898del (p.Asp1966GlufsTer?)
c.1332del (p.Asp444GlufsTer?)
c.2126del
c.5790del (p.Asp1930GlufsTer?)
c.2979del (p.Asp993GlufsTer?)
 gnomAD v4
14g.91272814G>ACA7308566CCDC88Cc.5898C>T (p.Asp1966=)
c.1332C>T (p.Asp444=)
c.2126C>T
c.5790C>T (p.Asp1930=)
c.2979C>T (p.Asp993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272814G>CCA390608533CCDC88Cc.5898C>G (p.Asp1966Glu)
c.1332C>G (p.Asp444Glu)
c.2126C>G
c.5790C>G (p.Asp1930Glu)
c.2979C>G (p.Asp993Glu)
14g.91272814G=CA2154900504CCDC88Cc.5898C= (p.Asp1966=)
c.1332C= (p.Asp444=)
c.2126C=
c.5790C= (p.Asp1930=)
c.2979C= (p.Asp993=)
14g.91272814G>TCA390608530CCDC88Cc.5898C>A (p.Asp1966Glu)
c.1332C>A (p.Asp444Glu)
c.2126C>A
c.5790C>A (p.Asp1930Glu)
c.2979C>A (p.Asp993Glu)
 gnomAD v4
14g.91272815T>ACA390608536CCDC88Cc.5897A>T (p.Asp1966Val)
c.1331A>T (p.Asp444Val)
c.2125A>T
c.5789A>T (p.Asp1930Val)
c.2978A>T (p.Asp993Val)
14g.91272815T>CCA390608538CCDC88Cc.5897A>G (p.Asp1966Gly)
c.1331A>G (p.Asp444Gly)
c.2125A>G
c.5789A>G (p.Asp1930Gly)
c.2978A>G (p.Asp993Gly)
14g.91272815T>GCA390608540CCDC88Cc.5897A>C (p.Asp1966Ala)
c.1331A>C (p.Asp444Ala)
c.2125A>C
c.5789A>C (p.Asp1930Ala)
c.2978A>C (p.Asp993Ala)
14g.91272816C>ACA390608544CCDC88Cc.5896G>T (p.Asp1966Tyr)
c.1330G>T (p.Asp444Tyr)
c.2124G>T
c.5788G>T (p.Asp1930Tyr)
c.2977G>T (p.Asp993Tyr)
14g.91272816C>GCA390608546CCDC88Cc.5896G>C (p.Asp1966His)
c.1330G>C (p.Asp444His)
c.2124G>C
c.5788G>C (p.Asp1930His)
c.2977G>C (p.Asp993His)
14g.91272816C>TCA390608547CCDC88Cc.5896G>A (p.Asp1966Asn)
c.1330G>A (p.Asp444Asn)
c.2124G>A
c.5788G>A (p.Asp1930Asn)
c.2977G>A (p.Asp993Asn)
 gnomAD v4
14g.91272819_91272822delCA2626127365CCDC88Cc.5893_5896del (p.Gly1965ThrfsTer?)
c.1327_1330del (p.Gly443ThrfsTer?)
c.2121_2124del
c.5785_5788del (p.Gly1929ThrfsTer?)
c.2974_2977del (p.Gly992ThrfsTer?)
 gnomAD v4
14g.91272817T>ACA487828668CCDC88Cc.5895A>T (p.Gly1965=)
c.1329A>T (p.Gly443=)
c.2123A>T
c.5787A>T (p.Gly1929=)
c.2976A>T (p.Gly992=)
14g.91272817T>CCA487828671CCDC88Cc.5895A>G (p.Gly1965=)
c.1329A>G (p.Gly443=)
c.2123A>G
c.5787A>G (p.Gly1929=)
c.2976A>G (p.Gly992=)
14g.91272817T>GCA487828669CCDC88Cc.5895A>C (p.Gly1965=)
c.1329A>C (p.Gly443=)
c.2123A>C
c.5787A>C (p.Gly1929=)
c.2976A>C (p.Gly992=)
14g.91272818C>ACA390608550CCDC88Cc.5894G>T (p.Gly1965Val)
c.1328G>T (p.Gly443Val)
c.2122G>T
c.5786G>T (p.Gly1929Val)
c.2975G>T (p.Gly992Val)
14g.91272818C=CA2154900510CCDC88Cc.5894G= (p.Gly1965=)
c.1328G= (p.Gly443=)
c.2122G=
c.5786G= (p.Gly1929=)
c.2975G= (p.Gly992=)
14g.91272818C>GCA390608552CCDC88Cc.5894G>C (p.Gly1965Ala)
c.1328G>C (p.Gly443Ala)
c.2122G>C
c.5786G>C (p.Gly1929Ala)
c.2975G>C (p.Gly992Ala)
 dbSNP
14g.91272818C>TCA390608555CCDC88Cc.5894G>A (p.Gly1965Glu)
c.1328G>A (p.Gly443Glu)
c.2122G>A
c.5786G>A (p.Gly1929Glu)
c.2975G>A (p.Gly992Glu)
 ClinVar
14g.91272819C>ACA390608558CCDC88Cc.5893G>T (p.Gly1965Ter)
c.1327G>T (p.Gly443Ter)
c.2121G>T
c.5785G>T (p.Gly1929Ter)
c.2974G>T (p.Gly992Ter)
14g.91272819C=CA2154900516CCDC88Cc.5893G= (p.Gly1965=)
c.1327G= (p.Gly443=)
c.2121G=
c.5785G= (p.Gly1929=)
c.2974G= (p.Gly992=)
14g.91272819C>GCA390608560CCDC88Cc.5893G>C (p.Gly1965Arg)
c.1327G>C (p.Gly443Arg)
c.2121G>C
c.5785G>C (p.Gly1929Arg)
c.2974G>C (p.Gly992Arg)
14g.91272819C>TCA390608562CCDC88Cc.5893G>A (p.Gly1965Arg)
c.1327G>A (p.Gly443Arg)
c.2121G>A
c.5785G>A (p.Gly1929Arg)
c.2974G>A (p.Gly992Arg)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
14g.91272820C>ACA390608565CCDC88Cc.5892G>T (p.Glu1964Asp)
c.1326G>T (p.Glu442Asp)
c.2120G>T
c.5784G>T (p.Glu1928Asp)
c.2973G>T (p.Glu991Asp)
 gnomAD v4
14g.91272820C=CA2154900520CCDC88Cc.5892G= (p.Glu1964=)
c.1326G= (p.Glu442=)
c.2120G=
c.5784G= (p.Glu1928=)
c.2973G= (p.Glu991=)
14g.91272820C>GCA390608567CCDC88Cc.5892G>C (p.Glu1964Asp)
c.1326G>C (p.Glu442Asp)
c.2120G>C
c.5784G>C (p.Glu1928Asp)
c.2973G>C (p.Glu991Asp)
 dbSNP
14g.91272820C>TCA7308567CCDC88Cc.5892G>A (p.Glu1964=)
c.1326G>A (p.Glu442=)
c.2120G>A
c.5784G>A (p.Glu1928=)
c.2973G>A (p.Glu991=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272820_91272823delCA2626127366CCDC88Cc.5889_5892del (p.Gly1965ThrfsTer?)
c.1323_1326del (p.Gly443ThrfsTer?)
c.2117_2120del
c.5781_5784del (p.Gly1929ThrfsTer?)
c.2970_2973del (p.Gly992ThrfsTer?)
 gnomAD v4
14g.91272821T>ACA390608570CCDC88Cc.5891A>T (p.Glu1964Val)
c.1325A>T (p.Glu442Val)
c.2119A>T
c.5783A>T (p.Glu1928Val)
c.2972A>T (p.Glu991Val)
14g.91272821T>CCA390608572CCDC88Cc.5891A>G (p.Glu1964Gly)
c.1325A>G (p.Glu442Gly)
c.2119A>G
c.5783A>G (p.Glu1928Gly)
c.2972A>G (p.Glu991Gly)
 dbSNP gnomAD v2 gnomAD v4
14g.91272821T>GCA390608575CCDC88Cc.5891A>C (p.Glu1964Ala)
c.1325A>C (p.Glu442Ala)
c.2119A>C
c.5783A>C (p.Glu1928Ala)
c.2972A>C (p.Glu991Ala)
14g.91272821T=CA2154900525CCDC88Cc.5891A= (p.Glu1964=)
c.1325A= (p.Glu442=)
c.2119A=
c.5783A= (p.Glu1928=)
c.2972A= (p.Glu991=)
14g.91272822C>ACA390608577CCDC88Cc.5890G>T (p.Glu1964Ter)
c.1324G>T (p.Glu442Ter)
c.2118G>T
c.5782G>T (p.Glu1928Ter)
c.2971G>T (p.Glu991Ter)
 gnomAD v4
14g.91272822C>GCA390608579CCDC88Cc.5890G>C (p.Glu1964Gln)
c.1324G>C (p.Glu442Gln)
c.2118G>C
c.5782G>C (p.Glu1928Gln)
c.2971G>C (p.Glu991Gln)
14g.91272822C>TCA390608582CCDC88Cc.5890G>A (p.Glu1964Lys)
c.1324G>A (p.Glu442Lys)
c.2118G>A
c.5782G>A (p.Glu1928Lys)
c.2971G>A (p.Glu991Lys)
14g.91272823T>ACA487828679CCDC88Cc.5889A>T (p.Ser1963=)
c.1323A>T (p.Ser441=)
c.2117A>T
c.5781A>T (p.Ser1927=)
c.2970A>T (p.Ser990=)
14g.91272823T>CCA487828681CCDC88Cc.5889A>G (p.Ser1963=)
c.1323A>G (p.Ser441=)
c.2117A>G
c.5781A>G (p.Ser1927=)
c.2970A>G (p.Ser990=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272823T>GCA487828680CCDC88Cc.5889A>C (p.Ser1963=)
c.1323A>C (p.Ser441=)
c.2117A>C
c.5781A>C (p.Ser1927=)
c.2970A>C (p.Ser990=)
14g.91272823T=CA2154900543CCDC88Cc.5889A= (p.Ser1963=)
c.1323A= (p.Ser441=)
c.2117A=
c.5781A= (p.Ser1927=)
c.2970A= (p.Ser990=)
14g.91272824G>ACA390608589CCDC88Cc.5888C>T (p.Ser1963Leu)
c.1322C>T (p.Ser441Leu)
c.2116C>T
c.5780C>T (p.Ser1927Leu)
c.2969C>T (p.Ser990Leu)
 dbSNP COSMIC COSMIC COSMIC
14g.91272824G>CCA390608586CCDC88Cc.5888C>G (p.Ser1963Ter)
c.1322C>G (p.Ser441Ter)
c.2116C>G
c.5780C>G (p.Ser1927Ter)
c.2969C>G (p.Ser990Ter)
14g.91272824G=CA2154900552CCDC88Cc.5888C= (p.Ser1963=)
c.1322C= (p.Ser441=)
c.2116C=
c.5780C= (p.Ser1927=)
c.2969C= (p.Ser990=)
14g.91272824G>TCA390608588CCDC88Cc.5888C>A (p.Ser1963Ter)
c.1322C>A (p.Ser441Ter)
c.2116C>A
c.5780C>A (p.Ser1927Ter)
c.2969C>A (p.Ser990Ter)
 dbSNP gnomAD v3 gnomAD v4
14g.91272825A>CCA390608592CCDC88Cc.5887T>G (p.Ser1963Ala)
c.1321T>G (p.Ser441Ala)
c.2115T>G
c.5779T>G (p.Ser1927Ala)
c.2968T>G (p.Ser990Ala)
14g.91272825A>GCA390608594CCDC88Cc.5887T>C (p.Ser1963Pro)
c.1321T>C (p.Ser441Pro)
c.2115T>C
c.5779T>C (p.Ser1927Pro)
c.2968T>C (p.Ser990Pro)
 gnomAD v4
14g.91272825A>TCA390608598CCDC88Cc.5887T>A (p.Ser1963Thr)
c.1321T>A (p.Ser441Thr)
c.2115T>A
c.5779T>A (p.Ser1927Thr)
c.2968T>A (p.Ser990Thr)
14g.91272826G>ACA487828683CCDC88Cc.5886C>T (p.Leu1962=)
c.1320C>T (p.Leu440=)
c.2114C>T
c.5778C>T (p.Leu1926=)
c.2967C>T (p.Leu989=)
 dbSNP gnomAD v2 gnomAD v4
14g.91272826G>CCA487828684CCDC88Cc.5886C>G (p.Leu1962=)
c.1320C>G (p.Leu440=)
c.2114C>G
c.5778C>G (p.Leu1926=)
c.2967C>G (p.Leu989=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.91272826G=CA2154900559CCDC88Cc.5886C= (p.Leu1962=)
c.1320C= (p.Leu440=)
c.2114C=
c.5778C= (p.Leu1926=)
c.2967C= (p.Leu989=)
14g.91272826G>TCA487828686CCDC88Cc.5886C>A (p.Leu1962=)
c.1320C>A (p.Leu440=)
c.2114C>A
c.5778C>A (p.Leu1926=)
c.2967C>A (p.Leu989=)
 gnomAD v4
14g.91272827A>CCA390608601CCDC88Cc.5885T>G (p.Leu1962Arg)
c.1319T>G (p.Leu440Arg)
c.2113T>G
c.5777T>G (p.Leu1926Arg)
c.2966T>G (p.Leu989Arg)
14g.91272827A>GCA390608602CCDC88Cc.5885T>C (p.Leu1962Pro)
c.1319T>C (p.Leu440Pro)
c.2113T>C
c.5777T>C (p.Leu1926Pro)
c.2966T>C (p.Leu989Pro)
14g.91272827A>TCA390608605CCDC88Cc.5885T>A (p.Leu1962His)
c.1319T>A (p.Leu440His)
c.2113T>A
c.5777T>A (p.Leu1926His)
c.2966T>A (p.Leu989His)
 gnomAD v4
14g.91272828G>ACA265517376CCDC88Cc.5884C>T (p.Leu1962Phe)
c.1318C>T (p.Leu440Phe)
c.2112C>T
c.5776C>T (p.Leu1926Phe)
c.2965C>T (p.Leu989Phe)
 dbSNP gnomAD v4
14g.91272828G>CCA390608611CCDC88Cc.5884C>G (p.Leu1962Val)
c.1318C>G (p.Leu440Val)
c.2112C>G
c.5776C>G (p.Leu1926Val)
c.2965C>G (p.Leu989Val)
14g.91272828G=CA2154900567CCDC88Cc.5884C= (p.Leu1962=)
c.1318C= (p.Leu440=)
c.2112C=
c.5776C= (p.Leu1926=)
c.2965C= (p.Leu989=)
14g.91272828G>TCA7308568CCDC88Cc.5884C>A (p.Leu1962Ile)
c.1318C>A (p.Leu440Ile)
c.2112C>A
c.5776C>A (p.Leu1926Ile)
c.2965C>A (p.Leu989Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91272829G>ACA487828689CCDC88Cc.5883C>T (p.Ser1961=)
c.1317C>T (p.Ser439=)
c.2111C>T
c.5775C>T (p.Ser1925=)
c.2964C>T (p.Ser988=)
 gnomAD v4
14g.91272829G>CCA390608614CCDC88Cc.5883C>G (p.Ser1961Arg)
c.1317C>G (p.Ser439Arg)
c.2111C>G
c.5775C>G (p.Ser1925Arg)
c.2964C>G (p.Ser988Arg)
14g.91272829G>TCA390608616CCDC88Cc.5883C>A (p.Ser1961Arg)
c.1317C>A (p.Ser439Arg)
c.2111C>A
c.5775C>A (p.Ser1925Arg)
c.2964C>A (p.Ser988Arg)
 ClinVar gnomAD v4
14g.91272830C>ACA390608620CCDC88Cc.5882G>T (p.Ser1961Ile)
c.1316G>T (p.Ser439Ile)
c.2110G>T
c.5774G>T (p.Ser1925Ile)
c.2963G>T (p.Ser988Ile)
 gnomAD v4
14g.91272830C>GCA390608622CCDC88Cc.5882G>C (p.Ser1961Thr)
c.1316G>C (p.Ser439Thr)
c.2110G>C
c.5774G>C (p.Ser1925Thr)
c.2963G>C (p.Ser988Thr)
14g.91272830C>TCA390608624CCDC88Cc.5882G>A (p.Ser1961Asn)
c.1316G>A (p.Ser439Asn)
c.2110G>A
c.5774G>A (p.Ser1925Asn)
c.2963G>A (p.Ser988Asn)
 gnomAD v4
14g.91272831T>ACA390608626CCDC88Cc.5881A>T (p.Ser1961Cys)
c.1315A>T (p.Ser439Cys)
c.2109A>T
c.5773A>T (p.Ser1925Cys)
c.2962A>T (p.Ser988Cys)
14g.91272831T>CCA390608628CCDC88Cc.5881A>G (p.Ser1961Gly)
c.1315A>G (p.Ser439Gly)
c.2109A>G
c.5773A>G (p.Ser1925Gly)
c.2962A>G (p.Ser988Gly)
 gnomAD v4
14g.91272831T>GCA390608630CCDC88Cc.5881A>C (p.Ser1961Arg)
c.1315A>C (p.Ser439Arg)
c.2109A>C
c.5773A>C (p.Ser1925Arg)
c.2962A>C (p.Ser988Arg)
14g.91272832G>ACA487828697CCDC88Cc.5880C>T (p.Leu1960=)
c.1314C>T (p.Leu438=)
c.2108C>T
c.5772C>T (p.Leu1924=)
c.2961C>T (p.Leu987=)
 gnomAD v4
14g.91272832G>CCA487828694CCDC88Cc.5880C>G (p.Leu1960=)
c.1314C>G (p.Leu438=)
c.2108C>G
c.5772C>G (p.Leu1924=)
c.2961C>G (p.Leu987=)
14g.91272832G>TCA487828695CCDC88Cc.5880C>A (p.Leu1960=)
c.1314C>A (p.Leu438=)
c.2108C>A
c.5772C>A (p.Leu1924=)
c.2961C>A (p.Leu987=)
 gnomAD v4

Number of alleles fetched