Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348441_20348443delCA2632114988UMODc.859_861del (p.Cys287del)
c.958_960del (p.Cys320del)
c.1006_1008del (p.Cys336del)
c.943_945del (p.Cys315del)
n.1084_1086del
 gnomAD v4
16g.20348443G>ACA494096937UMODc.858C>T (p.Tyr286=)
c.957C>T (p.Tyr319=)
c.1005C>T (p.Tyr335=)
c.942C>T (p.Tyr314=)
n.1083C>T
16g.20348443G>CCA394984058UMODc.858C>G (p.Tyr286Ter)
c.957C>G (p.Tyr319Ter)
c.1005C>G (p.Tyr335Ter)
c.942C>G (p.Tyr314Ter)
n.1083C>G
16g.20348443G=CA2211941749UMODc.858C= (p.Tyr286=)
c.957C= (p.Tyr319=)
c.1005C= (p.Tyr335=)
c.942C= (p.Tyr314=)
n.1083C=
16g.20348443G>TCA394984057UMODc.858C>A (p.Tyr286Ter)
c.957C>A (p.Tyr319Ter)
c.1005C>A (p.Tyr335Ter)
c.942C>A (p.Tyr314Ter)
n.1083C>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348444T>ACA394984059UMODc.857A>T (p.Tyr286Phe)
c.956A>T (p.Tyr319Phe)
c.1004A>T (p.Tyr335Phe)
c.941A>T (p.Tyr314Phe)
n.1082A>T
16g.20348444T>CCA394984060UMODc.857A>G (p.Tyr286Cys)
c.956A>G (p.Tyr319Cys)
c.1004A>G (p.Tyr335Cys)
c.941A>G (p.Tyr314Cys)
n.1082A>G
16g.20348444T>GCA394984062UMODc.857A>C (p.Tyr286Ser)
c.956A>C (p.Tyr319Ser)
c.1004A>C (p.Tyr335Ser)
c.941A>C (p.Tyr314Ser)
n.1082A>C
16g.20348445A>CCA394984063UMODc.856T>G (p.Tyr286Asp)
c.955T>G (p.Tyr319Asp)
c.1003T>G (p.Tyr335Asp)
c.940T>G (p.Tyr314Asp)
n.1081T>G
16g.20348445A>GCA394984064UMODc.856T>C (p.Tyr286His)
c.955T>C (p.Tyr319His)
c.1003T>C (p.Tyr335His)
c.940T>C (p.Tyr314His)
n.1081T>C
16g.20348445A>TCA394984065UMODc.856T>A (p.Tyr286Asn)
c.955T>A (p.Tyr319Asn)
c.1003T>A (p.Tyr335Asn)
c.940T>A (p.Tyr314Asn)
n.1081T>A
16g.20348446C>ACA494096944UMODc.855G>T (p.Ala285=)
c.954G>T (p.Ala318=)
c.1002G>T (p.Ala334=)
c.939G>T (p.Ala313=)
n.1080G>T
 gnomAD v4
16g.20348446C=CA2211941758UMODc.855G= (p.Ala285=)
c.954G= (p.Ala318=)
c.1002G= (p.Ala334=)
c.939G= (p.Ala313=)
n.1080G=
16g.20348446C>GCA494096948UMODc.855G>C (p.Ala285=)
c.954G>C (p.Ala318=)
c.1002G>C (p.Ala334=)
c.939G>C (p.Ala313=)
n.1080G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348446C>TCA494096947UMODc.855G>A (p.Ala285=)
c.954G>A (p.Ala318=)
c.1002G>A (p.Ala334=)
c.939G>A (p.Ala313=)
n.1080G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348447G>ACA7939392UMODc.854C>T (p.Ala285Val)
c.953C>T (p.Ala318Val)
c.1001C>T (p.Ala334Val)
c.938C>T (p.Ala313Val)
n.1079C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348447G>CCA394984069UMODc.854C>G (p.Ala285Gly)
c.953C>G (p.Ala318Gly)
c.1001C>G (p.Ala334Gly)
c.938C>G (p.Ala313Gly)
n.1079C>G
16g.20348447G=CA2211941762UMODc.854C= (p.Ala285=)
c.953C= (p.Ala318=)
c.1001C= (p.Ala334=)
c.938C= (p.Ala313=)
n.1079C=
16g.20348447G>TCA394984068UMODc.854C>A (p.Ala285Glu)
c.953C>A (p.Ala318Glu)
c.1001C>A (p.Ala334Glu)
c.938C>A (p.Ala313Glu)
n.1079C>A
 ClinVar dbSNP gnomAD v4
16g.20348448C>ACA394984071UMODc.853G>T (p.Ala285Ser)
c.952G>T (p.Ala318Ser)
c.1000G>T (p.Ala334Ser)
c.937G>T (p.Ala313Ser)
n.1078G>T
16g.20348448C>GCA394984072UMODc.853G>C (p.Ala285Pro)
c.952G>C (p.Ala318Pro)
c.1000G>C (p.Ala334Pro)
c.937G>C (p.Ala313Pro)
n.1078G>C
16g.20348448C>TCA394984073UMODc.853G>A (p.Ala285Thr)
c.952G>A (p.Ala318Thr)
c.1000G>A (p.Ala334Thr)
c.937G>A (p.Ala313Thr)
n.1078G>A
16g.20348449C>ACA494096950UMODc.852G>T (p.Leu284=)
c.951G>T (p.Leu317=)
c.999G>T (p.Leu333=)
c.936G>T (p.Leu312=)
n.1077G>T
16g.20348449C>GCA494096951UMODc.852G>C (p.Leu284=)
c.951G>C (p.Leu317=)
c.999G>C (p.Leu333=)
c.936G>C (p.Leu312=)
n.1077G>C
16g.20348449C>TCA494096952UMODc.852G>A (p.Leu284=)
c.951G>A (p.Leu317=)
c.999G>A (p.Leu333=)
c.936G>A (p.Leu312=)
n.1077G>A
 gnomAD v4
16g.20348450_20348451insCCAAACACACCCAACACACA2806163728UMODc.852_853insTGTTGGGTGTGTTTGGTG (p.Leu284_Ala285insCysTrpValCysLeuVal)
c.951_952insTGTTGGGTGTGTTTGGTG (p.Leu317_Ala318insCysTrpValCysLeuVal)
c.999_1000insTGTTGGGTGTGTTTGGTG (p.Leu333_Ala334insCysTrpValCysLeuVal)
c.936_937insTGTTGGGTGTGTTTGGTG (p.Leu312_Ala313insCysTrpValCysLeuVal)
n.1077_1078insTGTTGGGTGTGTTTGGTG
16g.20348450A>CCA394984075UMODc.851T>G (p.Leu284Arg)
c.950T>G (p.Leu317Arg)
c.998T>G (p.Leu333Arg)
c.935T>G (p.Leu312Arg)
n.1076T>G
16g.20348450A>GCA394984076UMODc.851T>C (p.Leu284Pro)
c.950T>C (p.Leu317Pro)
c.998T>C (p.Leu333Pro)
c.935T>C (p.Leu312Pro)
n.1076T>C
16g.20348450A>TCA394984077UMODc.851T>A (p.Leu284Gln)
c.950T>A (p.Leu317Gln)
c.998T>A (p.Leu333Gln)
c.935T>A (p.Leu312Gln)
n.1076T>A
16g.20348451G>ACA494096957UMODc.850C>T (p.Leu284=)
c.949C>T (p.Leu317=)
c.997C>T (p.Leu333=)
c.934C>T (p.Leu312=)
n.1075C>T
 dbSNP
16g.20348451G>CCA394984079UMODc.850C>G (p.Leu284Val)
c.949C>G (p.Leu317Val)
c.997C>G (p.Leu333Val)
c.934C>G (p.Leu312Val)
n.1075C>G
16g.20348451G>TCA394984081UMODc.850C>A (p.Leu284Met)
c.949C>A (p.Leu317Met)
c.997C>A (p.Leu333Met)
c.934C>A (p.Leu312Met)
n.1075C>A
16g.20348452G>ACA494096959UMODc.849C>T (p.His283=)
c.948C>T (p.His316=)
c.996C>T (p.His332=)
c.933C>T (p.His311=)
n.1074C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348452G>CCA394984083UMODc.849C>G (p.His283Gln)
c.948C>G (p.His316Gln)
c.996C>G (p.His332Gln)
c.933C>G (p.His311Gln)
n.1074C>G
 dbSNP gnomAD v4
16g.20348452G=CA2211941767UMODc.849C= (p.His283=)
c.948C= (p.His316=)
c.996C= (p.His332=)
c.933C= (p.His311=)
n.1074C=
16g.20348452G>TCA394984084UMODc.849C>A (p.His283Gln)
c.948C>A (p.His316Gln)
c.996C>A (p.His332Gln)
c.933C>A (p.His311Gln)
n.1074C>A
 gnomAD v4
16g.20348453T>ACA394984090UMODc.848A>T (p.His283Leu)
c.947A>T (p.His316Leu)
c.995A>T (p.His332Leu)
c.932A>T (p.His311Leu)
n.1073A>T
16g.20348453T>CCA394984088UMODc.848A>G (p.His283Arg)
c.947A>G (p.His316Arg)
c.995A>G (p.His332Arg)
c.932A>G (p.His311Arg)
n.1073A>G
16g.20348453T>GCA394984086UMODc.848A>C (p.His283Pro)
c.947A>C (p.His316Pro)
c.995A>C (p.His332Pro)
c.932A>C (p.His311Pro)
n.1073A>C
16g.20348454G>ACA394984092UMODc.847C>T (p.His283Tyr)
c.946C>T (p.His316Tyr)
c.994C>T (p.His332Tyr)
c.931C>T (p.His311Tyr)
n.1072C>T
16g.20348454G>CCA394984094UMODc.847C>G (p.His283Asp)
c.946C>G (p.His316Asp)
c.994C>G (p.His332Asp)
c.931C>G (p.His311Asp)
n.1072C>G
16g.20348454G>TCA394984095UMODc.847C>A (p.His283Asn)
c.946C>A (p.His316Asn)
c.994C>A (p.His332Asn)
c.931C>A (p.His311Asn)
n.1072C>A
16g.20348455A>CCA394984097UMODc.846T>G (p.Cys282Trp)
c.945T>G (p.Cys315Trp)
c.993T>G (p.Cys331Trp)
c.930T>G (p.Cys310Trp)
n.1071T>G
16g.20348455A>GCA494096965UMODc.846T>C (p.Cys282=)
c.945T>C (p.Cys315=)
c.993T>C (p.Cys331=)
c.930T>C (p.Cys310=)
n.1071T>C
16g.20348455A>TCA394984099UMODc.846T>A (p.Cys282Ter)
c.945T>A (p.Cys315Ter)
c.993T>A (p.Cys331Ter)
c.930T>A (p.Cys310Ter)
n.1071T>A
16g.20348456C>ACA394984101UMODc.845G>T (p.Cys282Phe)
c.944G>T (p.Cys315Phe)
c.992G>T (p.Cys331Phe)
c.929G>T (p.Cys310Phe)
n.1070G>T
16g.20348456C>GCA394984102UMODc.845G>C (p.Cys282Ser)
c.944G>C (p.Cys315Ser)
c.992G>C (p.Cys331Ser)
c.929G>C (p.Cys310Ser)
n.1070G>C
 ClinVar
16g.20348456C>TCA394984103UMODc.845G>A (p.Cys282Tyr)
c.944G>A (p.Cys315Tyr)
c.992G>A (p.Cys331Tyr)
c.929G>A (p.Cys310Tyr)
n.1070G>A
16g.20348457A>CCA394984105UMODc.844T>G (p.Cys282Gly)
c.943T>G (p.Cys315Gly)
c.991T>G (p.Cys331Gly)
c.928T>G (p.Cys310Gly)
n.1069T>G
16g.20348457A>GCA394984107UMODc.844T>C (p.Cys282Arg)
c.943T>C (p.Cys315Arg)
c.991T>C (p.Cys331Arg)
c.928T>C (p.Cys310Arg)
n.1069T>C
16g.20348457A>TCA394984110UMODc.844T>A (p.Cys282Ser)
c.943T>A (p.Cys315Ser)
c.991T>A (p.Cys331Ser)
c.928T>A (p.Cys310Ser)
n.1069T>A
 ClinVar
16g.20348458C>ACA394984112UMODc.843G>T (p.Glu281Asp)
c.942G>T (p.Glu314Asp)
c.990G>T (p.Glu330Asp)
c.927G>T (p.Glu309Asp)
n.1068G>T
 gnomAD v4
16g.20348458C=CA2211941772UMODc.843G= (p.Glu281=)
c.942G= (p.Glu314=)
c.990G= (p.Glu330=)
c.927G= (p.Glu309=)
n.1068G=
16g.20348458C>GCA394984113UMODc.843G>C (p.Glu281Asp)
c.942G>C (p.Glu314Asp)
c.990G>C (p.Glu330Asp)
c.927G>C (p.Glu309Asp)
n.1068G>C
 dbSNP
16g.20348458C>TCA494096975UMODc.843G>A (p.Glu281=)
c.942G>A (p.Glu314=)
c.990G>A (p.Glu330=)
c.927G>A (p.Glu309=)
n.1068G>A
 gnomAD v4
16g.20348459_20348460delCA2632114990UMODc.842_843del (p.Glu281ValfsTer17)
c.941_942del (p.Glu314ValfsTer17)
c.989_990del (p.Glu330ValfsTer17)
c.926_927del (p.Glu309ValfsTer17)
n.1067_1068del
 gnomAD v4
16g.20348459T>ACA394984117UMODc.842A>T (p.Glu281Val)
c.941A>T (p.Glu314Val)
c.989A>T (p.Glu330Val)
c.926A>T (p.Glu309Val)
n.1067A>T
16g.20348459T>CCA7939393UMODc.842A>G (p.Glu281Gly)
c.941A>G (p.Glu314Gly)
c.989A>G (p.Glu330Gly)
c.926A>G (p.Glu309Gly)
n.1067A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348459T>GCA394984116UMODc.842A>C (p.Glu281Ala)
c.941A>C (p.Glu314Ala)
c.989A>C (p.Glu330Ala)
c.926A>C (p.Glu309Ala)
n.1067A>C
 gnomAD v4
16g.20348459T=CA2211941776UMODc.842A= (p.Glu281=)
c.941A= (p.Glu314=)
c.989A= (p.Glu330=)
c.926A= (p.Glu309=)
n.1067A=
16g.20348460C>ACA394984118UMODc.841G>T (p.Glu281Ter)
c.940G>T (p.Glu314Ter)
c.988G>T (p.Glu330Ter)
c.925G>T (p.Glu309Ter)
n.1066G>T
 dbSNP
16g.20348460C=CA2211941782UMODc.841G= (p.Glu281=)
c.940G= (p.Glu314=)
c.988G= (p.Glu330=)
c.925G= (p.Glu309=)
n.1066G=
16g.20348460C>GCA394984119UMODc.841G>C (p.Glu281Gln)
c.940G>C (p.Glu314Gln)
c.988G>C (p.Glu330Gln)
c.925G>C (p.Glu309Gln)
n.1066G>C
16g.20348460C>TCA7939395UMODc.841G>A (p.Glu281Lys)
c.940G>A (p.Glu314Lys)
c.988G>A (p.Glu330Lys)
c.925G>A (p.Glu309Lys)
n.1066G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348460_20348461delinsCGCA2211941788UMODc.840_841delinsCG (p.Pro280=)
c.939_940delinsCG (p.Pro313=)
c.987_988delinsCG (p.Pro329=)
c.924_925delinsCG (p.Pro308=)
n.1065_1066delinsCG
16g.20348461G>ACA202324UMODc.840C>T (p.Pro280=)
c.939C>T (p.Pro313=)
c.987C>T (p.Pro329=)
c.924C>T (p.Pro308=)
n.1065C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348461G>CCA494096977UMODc.840C>G (p.Pro280=)
c.939C>G (p.Pro313=)
c.987C>G (p.Pro329=)
c.924C>G (p.Pro308=)
n.1065C>G
 dbSNP gnomAD v4
16g.20348461G=CA2211941798UMODc.840C= (p.Pro280=)
c.939C= (p.Pro313=)
c.987C= (p.Pro329=)
c.924C= (p.Pro308=)
n.1065C=
16g.20348461G>TCA494096979UMODc.840C>A (p.Pro280=)
c.939C>A (p.Pro313=)
c.987C>A (p.Pro329=)
c.924C>A (p.Pro308=)
n.1065C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348466dupCA7939394UMODc.840dup (p.Glu281ArgfsTer18)
c.939dup (p.Glu314ArgfsTer18)
c.987dup (p.Glu330ArgfsTer18)
c.924dup (p.Glu309ArgfsTer18)
n.1065dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348466delCA645590584UMODc.840del (p.Glu281SerfsTer22)
c.939del (p.Glu314SerfsTer22)
c.987del (p.Glu330SerfsTer22)
c.924del (p.Glu309SerfsTer22)
n.1065del
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348462G>ACA394984121UMODc.839C>T (p.Pro280Leu)
c.938C>T (p.Pro313Leu)
c.986C>T (p.Pro329Leu)
c.923C>T (p.Pro308Leu)
n.1064C>T
16g.20348462G>CCA394984123UMODc.839C>G (p.Pro280Arg)
c.938C>G (p.Pro313Arg)
c.986C>G (p.Pro329Arg)
c.923C>G (p.Pro308Arg)
n.1064C>G
 gnomAD v4
16g.20348462G=CA2211941811UMODc.839C= (p.Pro280=)
c.938C= (p.Pro313=)
c.986C= (p.Pro329=)
c.923C= (p.Pro308=)
n.1064C=
16g.20348462G>TCA394984126UMODc.839C>A (p.Pro280His)
c.938C>A (p.Pro313His)
c.986C>A (p.Pro329His)
c.923C>A (p.Pro308His)
n.1064C>A
 dbSNP
16g.20348463G>ACA394984132UMODc.838C>T (p.Pro280Ser)
c.937C>T (p.Pro313Ser)
c.985C>T (p.Pro329Ser)
c.922C>T (p.Pro308Ser)
n.1063C>T
16g.20348463G>CCA394984133UMODc.838C>G (p.Pro280Ala)
c.937C>G (p.Pro313Ala)
c.985C>G (p.Pro329Ala)
c.922C>G (p.Pro308Ala)
n.1063C>G
16g.20348463G>TCA394984136UMODc.838C>A (p.Pro280Thr)
c.937C>A (p.Pro313Thr)
c.985C>A (p.Pro329Thr)
c.922C>A (p.Pro308Thr)
n.1063C>A
16g.20348464G>ACA7939396UMODc.837C>T (p.Pro279=)
c.936C>T (p.Pro312=)
c.984C>T (p.Pro328=)
c.921C>T (p.Pro307=)
n.1062C>T
 dbSNP ExAC gnomAD v2 COSMIC
16g.20348464G>CCA494096987UMODc.837C>G (p.Pro279=)
c.936C>G (p.Pro312=)
c.984C>G (p.Pro328=)
c.921C>G (p.Pro307=)
n.1062C>G
16g.20348464G=CA2211941817UMODc.837C= (p.Pro279=)
c.936C= (p.Pro312=)
c.984C= (p.Pro328=)
c.921C= (p.Pro307=)
n.1062C=
16g.20348464G>TCA494096990UMODc.837C>A (p.Pro279=)
c.936C>A (p.Pro312=)
c.984C>A (p.Pro328=)
c.921C>A (p.Pro307=)
n.1062C>A
 gnomAD v4
16g.20348465G>ACA394984138UMODc.836C>T (p.Pro279Leu)
c.935C>T (p.Pro312Leu)
c.983C>T (p.Pro328Leu)
c.920C>T (p.Pro307Leu)
n.1061C>T
 gnomAD v4
16g.20348465G>CCA394984142UMODc.836C>G (p.Pro279Arg)
c.935C>G (p.Pro312Arg)
c.983C>G (p.Pro328Arg)
c.920C>G (p.Pro307Arg)
n.1061C>G
16g.20348465G>TCA394984140UMODc.836C>A (p.Pro279His)
c.935C>A (p.Pro312His)
c.983C>A (p.Pro328His)
c.920C>A (p.Pro307His)
n.1061C>A
16g.20348466G>ACA279299588UMODc.835C>T (p.Pro279Ser)
c.934C>T (p.Pro312Ser)
c.982C>T (p.Pro328Ser)
c.919C>T (p.Pro307Ser)
n.1060C>T
 dbSNP gnomAD v4
16g.20348466G>CCA394984152UMODc.835C>G (p.Pro279Ala)
c.934C>G (p.Pro312Ala)
c.982C>G (p.Pro328Ala)
c.919C>G (p.Pro307Ala)
n.1060C>G
16g.20348466G=CA2211941822UMODc.835C= (p.Pro279=)
c.934C= (p.Pro312=)
c.982C= (p.Pro328=)
c.919C= (p.Pro307=)
n.1060C=
16g.20348466G>TCA394984150UMODc.835C>A (p.Pro279Thr)
c.934C>A (p.Pro312Thr)
c.982C>A (p.Pro328Thr)
c.919C>A (p.Pro307Thr)
n.1060C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348467C>ACA494096997UMODc.834G>T (p.Ala278=)
c.933G>T (p.Ala311=)
c.981G>T (p.Ala327=)
c.918G>T (p.Ala306=)
n.1059G>T
16g.20348467C=CA2211941827UMODc.834G= (p.Ala278=)
c.933G= (p.Ala311=)
c.981G= (p.Ala327=)
c.918G= (p.Ala306=)
n.1059G=
16g.20348467C>GCA494096998UMODc.834G>C (p.Ala278=)
c.933G>C (p.Ala311=)
c.981G>C (p.Ala327=)
c.918G>C (p.Ala306=)
n.1059G>C
16g.20348467C>TCA7939397UMODc.834G>A (p.Ala278=)
c.933G>A (p.Ala311=)
c.981G>A (p.Ala327=)
c.918G>A (p.Ala306=)
n.1059G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348468G>ACA394984160UMODc.833C>T (p.Ala278Val)
c.932C>T (p.Ala311Val)
c.980C>T (p.Ala327Val)
c.917C>T (p.Ala306Val)
n.1058C>T
 gnomAD v4
16g.20348468G>CCA394984154UMODc.833C>G (p.Ala278Gly)
c.932C>G (p.Ala311Gly)
c.980C>G (p.Ala327Gly)
c.917C>G (p.Ala306Gly)
n.1058C>G
16g.20348468G=CA2211941828UMODc.833C= (p.Ala278=)
c.932C= (p.Ala311=)
c.980C= (p.Ala327=)
c.917C= (p.Ala306=)
n.1058C=
16g.20348468G>TCA394984156UMODc.833C>A (p.Ala278Glu)
c.932C>A (p.Ala311Glu)
c.980C>A (p.Ala327Glu)
c.917C>A (p.Ala306Glu)
n.1058C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348469C>ACA394984163UMODc.832G>T (p.Ala278Ser)
c.931G>T (p.Ala311Ser)
c.979G>T (p.Ala327Ser)
c.916G>T (p.Ala306Ser)
n.1057G>T
16g.20348469C>GCA394984165UMODc.832G>C (p.Ala278Pro)
c.931G>C (p.Ala311Pro)
c.979G>C (p.Ala327Pro)
c.916G>C (p.Ala306Pro)
n.1057G>C
16g.20348469C>TCA394984167UMODc.832G>A (p.Ala278Thr)
c.931G>A (p.Ala311Thr)
c.979G>A (p.Ala327Thr)
c.916G>A (p.Ala306Thr)
n.1057G>A
 gnomAD v4
16g.20348470T>ACA494097002UMODc.831A>T (p.Thr277=)
c.930A>T (p.Thr310=)
c.978A>T (p.Thr326=)
c.915A>T (p.Thr305=)
n.1056A>T
16g.20348470T>CCA494097003UMODc.831A>G (p.Thr277=)
c.930A>G (p.Thr310=)
c.978A>G (p.Thr326=)
c.915A>G (p.Thr305=)
n.1056A>G
 gnomAD v4
16g.20348470T>GCA494097004UMODc.831A>C (p.Thr277=)
c.930A>C (p.Thr310=)
c.978A>C (p.Thr326=)
c.915A>C (p.Thr305=)
n.1056A>C
16g.20348471G>ACA394984170UMODc.830C>T (p.Thr277Ile)
c.929C>T (p.Thr310Ile)
c.977C>T (p.Thr326Ile)
c.914C>T (p.Thr305Ile)
n.1055C>T
16g.20348471G>CCA394984172UMODc.830C>G (p.Thr277Arg)
c.929C>G (p.Thr310Arg)
c.977C>G (p.Thr326Arg)
c.914C>G (p.Thr305Arg)
n.1055C>G
 dbSNP
16g.20348471G=CA2211941831UMODc.830C= (p.Thr277=)
c.929C= (p.Thr310=)
c.977C= (p.Thr326=)
c.914C= (p.Thr305=)
n.1055C=
16g.20348471G>TCA394984175UMODc.830C>A (p.Thr277Lys)
c.929C>A (p.Thr310Lys)
c.977C>A (p.Thr326Lys)
c.914C>A (p.Thr305Lys)
n.1055C>A
 gnomAD v4
16g.20348472T>ACA394984177UMODc.829A>T (p.Thr277Ser)
c.928A>T (p.Thr310Ser)
c.976A>T (p.Thr326Ser)
c.913A>T (p.Thr305Ser)
n.1054A>T
16g.20348472T>CCA394984178UMODc.829A>G (p.Thr277Ala)
c.928A>G (p.Thr310Ala)
c.976A>G (p.Thr326Ala)
c.913A>G (p.Thr305Ala)
n.1054A>G
16g.20348472T>GCA394984180UMODc.829A>C (p.Thr277Pro)
c.928A>C (p.Thr310Pro)
c.976A>C (p.Thr326Pro)
c.913A>C (p.Thr305Pro)
n.1054A>C
16g.20348473C>ACA494097011UMODc.828G>T (p.Leu276=)
c.927G>T (p.Leu309=)
c.975G>T (p.Leu325=)
c.912G>T (p.Leu304=)
n.1053G>T
16g.20348473C>GCA494097012UMODc.828G>C (p.Leu276=)
c.927G>C (p.Leu309=)
c.975G>C (p.Leu325=)
c.912G>C (p.Leu304=)
n.1053G>C
16g.20348473C>TCA494097013UMODc.828G>A (p.Leu276=)
c.927G>A (p.Leu309=)
c.975G>A (p.Leu325=)
c.912G>A (p.Leu304=)
n.1053G>A
 gnomAD v4
16g.20348474A>CCA394984183UMODc.827T>G (p.Leu276Arg)
c.926T>G (p.Leu309Arg)
c.974T>G (p.Leu325Arg)
c.911T>G (p.Leu304Arg)
n.1052T>G
16g.20348474A>GCA394984184UMODc.827T>C (p.Leu276Pro)
c.926T>C (p.Leu309Pro)
c.974T>C (p.Leu325Pro)
c.911T>C (p.Leu304Pro)
n.1052T>C
16g.20348474A>TCA394984187UMODc.827T>A (p.Leu276Gln)
c.926T>A (p.Leu309Gln)
c.974T>A (p.Leu325Gln)
c.911T>A (p.Leu304Gln)
n.1052T>A
16g.20348475G>ACA494097014UMODc.826C>T (p.Leu276=)
c.925C>T (p.Leu309=)
c.973C>T (p.Leu325=)
c.910C>T (p.Leu304=)
n.1051C>T
16g.20348475G>CCA394984195UMODc.826C>G (p.Leu276Val)
c.925C>G (p.Leu309Val)
c.973C>G (p.Leu325Val)
c.910C>G (p.Leu304Val)
n.1051C>G
16g.20348475G>TCA394984191UMODc.826C>A (p.Leu276Met)
c.925C>A (p.Leu309Met)
c.973C>A (p.Leu325Met)
c.910C>A (p.Leu304Met)
n.1051C>A
 gnomAD v4
16g.20348476G>ACA494097018UMODc.825C>T (p.Asn275=)
c.924C>T (p.Asn308=)
c.972C>T (p.Asn324=)
c.909C>T (p.Asn303=)
n.1050C>T
 gnomAD v4
16g.20348476G>CCA394984197UMODc.825C>G (p.Asn275Lys)
c.924C>G (p.Asn308Lys)
c.972C>G (p.Asn324Lys)
c.909C>G (p.Asn303Lys)
n.1050C>G
16g.20348476G>TCA394984199UMODc.825C>A (p.Asn275Lys)
c.924C>A (p.Asn308Lys)
c.972C>A (p.Asn324Lys)
c.909C>A (p.Asn303Lys)
n.1050C>A
 gnomAD v4
16g.20348477T>ACA394984200UMODc.824A>T (p.Asn275Ile)
c.923A>T (p.Asn308Ile)
c.971A>T (p.Asn324Ile)
c.908A>T (p.Asn303Ile)
n.1049A>T
16g.20348477T>CCA7939398UMODc.824A>G (p.Asn275Ser)
c.923A>G (p.Asn308Ser)
c.971A>G (p.Asn324Ser)
c.908A>G (p.Asn303Ser)
n.1049A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348477T>GCA394984203UMODc.824A>C (p.Asn275Thr)
c.923A>C (p.Asn308Thr)
c.971A>C (p.Asn324Thr)
c.908A>C (p.Asn303Thr)
n.1049A>C
16g.20348477T=CA2211941835UMODc.824A= (p.Asn275=)
c.923A= (p.Asn308=)
c.971A= (p.Asn324=)
c.908A= (p.Asn303=)
n.1049A=
16g.20348478T>ACA279299606UMODc.823A>T (p.Asn275Tyr)
c.922A>T (p.Asn308Tyr)
c.970A>T (p.Asn324Tyr)
c.907A>T (p.Asn303Tyr)
n.1048A>T
 dbSNP
16g.20348478T>CCA394984207UMODc.823A>G (p.Asn275Asp)
c.922A>G (p.Asn308Asp)
c.970A>G (p.Asn324Asp)
c.907A>G (p.Asn303Asp)
n.1048A>G
16g.20348478T>GCA394984209UMODc.823A>C (p.Asn275His)
c.922A>C (p.Asn308His)
c.970A>C (p.Asn324His)
c.907A>C (p.Asn303His)
n.1048A>C
16g.20348478T=CA2211941839UMODc.823A= (p.Asn275=)
c.922A= (p.Asn308=)
c.970A= (p.Asn324=)
c.907A= (p.Asn303=)
n.1048A=
16g.20348479G>ACA494097021UMODc.822C>T (p.Tyr274=)
c.921C>T (p.Tyr307=)
c.969C>T (p.Tyr323=)
c.906C>T (p.Tyr302=)
n.1047C>T
16g.20348479G>CCA394984214UMODc.822C>G (p.Tyr274Ter)
c.921C>G (p.Tyr307Ter)
c.969C>G (p.Tyr323Ter)
c.906C>G (p.Tyr302Ter)
n.1047C>G
16g.20348479G=CA2211941844UMODc.822C= (p.Tyr274=)
c.921C= (p.Tyr307=)
c.969C= (p.Tyr323=)
c.906C= (p.Tyr302=)
n.1047C=
16g.20348479G>TCA394984217UMODc.822C>A (p.Tyr274Ter)
c.921C>A (p.Tyr307Ter)
c.969C>A (p.Tyr323Ter)
c.906C>A (p.Tyr302Ter)
n.1047C>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348480T>ACA394984222UMODc.821A>T (p.Tyr274Phe)
c.920A>T (p.Tyr307Phe)
c.968A>T (p.Tyr323Phe)
c.905A>T (p.Tyr302Phe)
n.1046A>T
16g.20348480T>CCA7939399UMODc.821A>G (p.Tyr274Cys)
c.920A>G (p.Tyr307Cys)
c.968A>G (p.Tyr323Cys)
c.905A>G (p.Tyr302Cys)
n.1046A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348480T>GCA394984230UMODc.821A>C (p.Tyr274Ser)
c.920A>C (p.Tyr307Ser)
c.968A>C (p.Tyr323Ser)
c.905A>C (p.Tyr302Ser)
n.1046A>C
16g.20348480T=CA2211941847UMODc.821A= (p.Tyr274=)
c.920A= (p.Tyr307=)
c.968A= (p.Tyr323=)
c.905A= (p.Tyr302=)
n.1046A=
16g.20348481A>CCA394984234UMODc.820T>G (p.Tyr274Asp)
c.919T>G (p.Tyr307Asp)
c.967T>G (p.Tyr323Asp)
c.904T>G (p.Tyr302Asp)
n.1045T>G
16g.20348481A>GCA394984236UMODc.820T>C (p.Tyr274His)
c.919T>C (p.Tyr307His)
c.967T>C (p.Tyr323His)
c.904T>C (p.Tyr302His)
n.1045T>C
 gnomAD v4
16g.20348481A>TCA394984235UMODc.820T>A (p.Tyr274Asn)
c.919T>A (p.Tyr307Asn)
c.967T>A (p.Tyr323Asn)
c.904T>A (p.Tyr302Asn)
n.1045T>A
16g.20348482G>ACA494097025UMODc.819C>T (p.Val273=)
c.918C>T (p.Val306=)
c.966C>T (p.Val322=)
c.903C>T (p.Val301=)
n.1044C>T
16g.20348482G>CCA494097026UMODc.819C>G (p.Val273=)
c.918C>G (p.Val306=)
c.966C>G (p.Val322=)
c.903C>G (p.Val301=)
n.1044C>G
16g.20348482G>TCA494097028UMODc.819C>A (p.Val273=)
c.918C>A (p.Val306=)
c.966C>A (p.Val322=)
c.903C>A (p.Val301=)
n.1044C>A
 gnomAD v4
16g.20348483A>CCA394984240UMODc.818T>G (p.Val273Gly)
c.917T>G (p.Val306Gly)
c.965T>G (p.Val322Gly)
c.902T>G (p.Val301Gly)
n.1043T>G
16g.20348483A>GCA394984242UMODc.818T>C (p.Val273Ala)
c.917T>C (p.Val306Ala)
c.965T>C (p.Val322Ala)
c.902T>C (p.Val301Ala)
n.1043T>C
16g.20348483A>TCA394984243UMODc.818T>A (p.Val273Asp)
c.917T>A (p.Val306Asp)
c.965T>A (p.Val322Asp)
c.902T>A (p.Val301Asp)
n.1043T>A
16g.20348484C>ACA256256UMODc.817G>T (p.Val273Phe)
c.916G>T (p.Val306Phe)
c.964G>T (p.Val322Phe)
c.901G>T (p.Val301Phe)
n.1042G>T
 ClinVar dbSNP
16g.20348484C=CA2211941854UMODc.817G= (p.Val273=)
c.916G= (p.Val306=)
c.964G= (p.Val322=)
c.901G= (p.Val301=)
n.1042G=
16g.20348484C>GCA394984251UMODc.817G>C (p.Val273Leu)
c.916G>C (p.Val306Leu)
c.964G>C (p.Val322Leu)
c.901G>C (p.Val301Leu)
n.1042G>C
 dbSNP
16g.20348484C>TCA394984252UMODc.817G>A (p.Val273Ile)
c.916G>A (p.Val306Ile)
c.964G>A (p.Val322Ile)
c.901G>A (p.Val301Ile)
n.1042G>A
 dbSNP gnomAD v4
16g.20348485G>ACA494097030UMODc.816C>T (p.Tyr272=)
c.915C>T (p.Tyr305=)
c.963C>T (p.Tyr321=)
c.900C>T (p.Tyr300=)
n.1041C>T
 gnomAD v4
16g.20348485G>CCA394984255UMODc.816C>G (p.Tyr272Ter)
c.915C>G (p.Tyr305Ter)
c.963C>G (p.Tyr321Ter)
c.900C>G (p.Tyr300Ter)
n.1041C>G
 dbSNP gnomAD v2
16g.20348485G=CA2211941873UMODc.816C= (p.Tyr272=)
c.915C= (p.Tyr305=)
c.963C= (p.Tyr321=)
c.900C= (p.Tyr300=)
n.1041C=
16g.20348485G>TCA7939400UMODc.816C>A (p.Tyr272Ter)
c.915C>A (p.Tyr305Ter)
c.963C>A (p.Tyr321Ter)
c.900C>A (p.Tyr300Ter)
n.1041C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348489_20348491delCA2695222873UMODc.814_816del (p.Tyr272del)
c.913_915del (p.Tyr305del)
c.961_963del (p.Tyr321del)
c.898_900del (p.Tyr300del)
n.1039_1041del
16g.20348486T>ACA394984259UMODc.815A>T (p.Tyr272Phe)
c.914A>T (p.Tyr305Phe)
c.962A>T (p.Tyr321Phe)
c.899A>T (p.Tyr300Phe)
n.1040A>T
16g.20348486T>CCA394984261UMODc.815A>G (p.Tyr272Cys)
c.914A>G (p.Tyr305Cys)
c.962A>G (p.Tyr321Cys)
c.899A>G (p.Tyr300Cys)
n.1040A>G
16g.20348486T>GCA394984263UMODc.815A>C (p.Tyr272Ser)
c.914A>C (p.Tyr305Ser)
c.962A>C (p.Tyr321Ser)
c.899A>C (p.Tyr300Ser)
n.1040A>C
16g.20348487A>CCA394984273UMODc.814T>G (p.Tyr272Asp)
c.913T>G (p.Tyr305Asp)
c.961T>G (p.Tyr321Asp)
c.898T>G (p.Tyr300Asp)
n.1039T>G
16g.20348487A>GCA394984270UMODc.814T>C (p.Tyr272His)
c.913T>C (p.Tyr305His)
c.961T>C (p.Tyr321His)
c.898T>C (p.Tyr300His)
n.1039T>C
 gnomAD v4
16g.20348487A>TCA394984266UMODc.814T>A (p.Tyr272Asn)
c.913T>A (p.Tyr305Asn)
c.961T>A (p.Tyr321Asn)
c.898T>A (p.Tyr300Asn)
n.1039T>A
 COSMIC
16g.20348488G>ACA494097036UMODc.813C>T (p.Tyr271=)
c.912C>T (p.Tyr304=)
c.960C>T (p.Tyr320=)
c.897C>T (p.Tyr299=)
n.1038C>T
 dbSNP gnomAD v2
16g.20348488G>CCA394984275UMODc.813C>G (p.Tyr271Ter)
c.912C>G (p.Tyr304Ter)
c.960C>G (p.Tyr320Ter)
c.897C>G (p.Tyr299Ter)
n.1038C>G
16g.20348488G=CA2211941877UMODc.813C= (p.Tyr271=)
c.912C= (p.Tyr304=)
c.960C= (p.Tyr320=)
c.897C= (p.Tyr299=)
n.1038C=
16g.20348488G>TCA394984278UMODc.813C>A (p.Tyr271Ter)
c.912C>A (p.Tyr304Ter)
c.960C>A (p.Tyr320Ter)
c.897C>A (p.Tyr299Ter)
n.1038C>A
 gnomAD v4
16g.20348489T>ACA394984283UMODc.812A>T (p.Tyr271Phe)
c.911A>T (p.Tyr304Phe)
c.959A>T (p.Tyr320Phe)
c.896A>T (p.Tyr299Phe)
n.1037A>T
 gnomAD v4
16g.20348489T>CCA394984285UMODc.812A>G (p.Tyr271Cys)
c.911A>G (p.Tyr304Cys)
c.959A>G (p.Tyr320Cys)
c.896A>G (p.Tyr299Cys)
n.1037A>G
 ClinVar
16g.20348489T>GCA394984286UMODc.812A>C (p.Tyr271Ser)
c.911A>C (p.Tyr304Ser)
c.959A>C (p.Tyr320Ser)
c.896A>C (p.Tyr299Ser)
n.1037A>C
16g.20348490A>CCA394984288UMODc.811T>G (p.Tyr271Asp)
c.910T>G (p.Tyr304Asp)
c.958T>G (p.Tyr320Asp)
c.895T>G (p.Tyr299Asp)
n.1036T>G
16g.20348490A>GCA394984291UMODc.811T>C (p.Tyr271His)
c.910T>C (p.Tyr304His)
c.958T>C (p.Tyr320His)
c.895T>C (p.Tyr299His)
n.1036T>C
16g.20348490A>TCA394984293UMODc.811T>A (p.Tyr271Asn)
c.910T>A (p.Tyr304Asn)
c.958T>A (p.Tyr320Asn)
c.895T>A (p.Tyr299Asn)
n.1036T>A
16g.20348491G>ACA494097043UMODc.810C>T (p.Gly270=)
c.909C>T (p.Gly303=)
c.957C>T (p.Gly319=)
c.894C>T (p.Gly298=)
n.1035C>T
16g.20348491G>CCA494097044UMODc.810C>G (p.Gly270=)
c.909C>G (p.Gly303=)
c.957C>G (p.Gly319=)
c.894C>G (p.Gly298=)
n.1035C>G
 dbSNP
16g.20348491G=CA2211941880UMODc.810C= (p.Gly270=)
c.909C= (p.Gly303=)
c.957C= (p.Gly319=)
c.894C= (p.Gly298=)
n.1035C=
16g.20348491G>TCA494097045UMODc.810C>A (p.Gly270=)
c.909C>A (p.Gly303=)
c.957C>A (p.Gly319=)
c.894C>A (p.Gly298=)
n.1035C>A
 gnomAD v4
16g.20348492C>ACA394984299UMODc.809G>T (p.Gly270Val)
c.908G>T (p.Gly303Val)
c.956G>T (p.Gly319Val)
c.893G>T (p.Gly298Val)
n.1034G>T
16g.20348492C=CA2211941884UMODc.809G= (p.Gly270=)
c.908G= (p.Gly303=)
c.956G= (p.Gly319=)
c.893G= (p.Gly298=)
n.1034G=
16g.20348492C>GCA394984302UMODc.809G>C (p.Gly270Ala)
c.908G>C (p.Gly303Ala)
c.956G>C (p.Gly319Ala)
c.893G>C (p.Gly298Ala)
n.1034G>C
16g.20348492C>TCA394984303UMODc.809G>A (p.Gly270Asp)
c.908G>A (p.Gly303Asp)
c.956G>A (p.Gly319Asp)
c.893G>A (p.Gly298Asp)
n.1034G>A
 dbSNP gnomAD v2
16g.20348493C>ACA394984317UMODc.808G>T (p.Gly270Cys)
c.907G>T (p.Gly303Cys)
c.955G>T (p.Gly319Cys)
c.892G>T (p.Gly298Cys)
n.1033G>T
 ClinVar dbSNP
16g.20348493C=CA2211941892UMODc.808G= (p.Gly270=)
c.907G= (p.Gly303=)
c.955G= (p.Gly319=)
c.892G= (p.Gly298=)
n.1033G=
16g.20348493C>GCA394984310UMODc.808G>C (p.Gly270Arg)
c.907G>C (p.Gly303Arg)
c.955G>C (p.Gly319Arg)
c.892G>C (p.Gly298Arg)
n.1033G>C
16g.20348493C>TCA7939401UMODc.808G>A (p.Gly270Ser)
c.907G>A (p.Gly303Ser)
c.955G>A (p.Gly319Ser)
c.892G>A (p.Gly298Ser)
n.1033G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348494G>ACA494097054UMODc.807C>T (p.Gly269=)
c.906C>T (p.Gly302=)
c.954C>T (p.Gly318=)
c.891C>T (p.Gly297=)
n.1032C>T
 gnomAD v4
16g.20348494G>CCA494097055UMODc.807C>G (p.Gly269=)
c.906C>G (p.Gly302=)
c.954C>G (p.Gly318=)
c.891C>G (p.Gly297=)
n.1032C>G
16g.20348494G=CA2211941902UMODc.807C= (p.Gly269=)
c.906C= (p.Gly302=)
c.954C= (p.Gly318=)
c.891C= (p.Gly297=)
n.1032C=
16g.20348494G>TCA494097056UMODc.807C>A (p.Gly269=)
c.906C>A (p.Gly302=)
c.954C>A (p.Gly318=)
c.891C>A (p.Gly297=)
n.1032C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348494_20348498delCA2511452837UMODc.803_807del (p.Ala268GlyfsTer29)
c.902_906del (p.Ala301GlyfsTer29)
c.950_954del (p.Ala317GlyfsTer29)
c.887_891del (p.Ala296GlyfsTer29)
n.1028_1032del
16g.20348495C>ACA394984320UMODc.806G>T (p.Gly269Val)
c.905G>T (p.Gly302Val)
c.953G>T (p.Gly318Val)
c.890G>T (p.Gly297Val)
n.1031G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348495C=CA2211941905UMODc.806G= (p.Gly269=)
c.905G= (p.Gly302=)
c.953G= (p.Gly318=)
c.890G= (p.Gly297=)
n.1031G=
16g.20348495C>GCA394984326UMODc.806G>C (p.Gly269Ala)
c.905G>C (p.Gly302Ala)
c.953G>C (p.Gly318Ala)
c.890G>C (p.Gly297Ala)
n.1031G>C
16g.20348495C>TCA394984322UMODc.806G>A (p.Gly269Asp)
c.905G>A (p.Gly302Asp)
c.953G>A (p.Gly318Asp)
c.890G>A (p.Gly297Asp)
n.1031G>A
 gnomAD v4
16g.20348496C>ACA394984329UMODc.805G>T (p.Gly269Cys)
c.904G>T (p.Gly302Cys)
c.952G>T (p.Gly318Cys)
c.889G>T (p.Gly297Cys)
n.1030G>T
 gnomAD v4
16g.20348496C=CA2211941910UMODc.805G= (p.Gly269=)
c.904G= (p.Gly302=)
c.952G= (p.Gly318=)
c.889G= (p.Gly297=)
n.1030G=
16g.20348496C>GCA394984332UMODc.805G>C (p.Gly269Arg)
c.904G>C (p.Gly302Arg)
c.952G>C (p.Gly318Arg)
c.889G>C (p.Gly297Arg)
n.1030G>C
16g.20348496C>TCA7939402UMODc.805G>A (p.Gly269Ser)
c.904G>A (p.Gly302Ser)
c.952G>A (p.Gly318Ser)
c.889G>A (p.Gly297Ser)
n.1030G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348497G>ACA494097059UMODc.804C>T (p.Ala268=)
c.903C>T (p.Ala301=)
c.951C>T (p.Ala317=)
c.888C>T (p.Ala296=)
n.1029C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348497G>CCA7939404UMODc.804C>G (p.Ala268=)
c.903C>G (p.Ala301=)
c.951C>G (p.Ala317=)
c.888C>G (p.Ala296=)
n.1029C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348497G=CA2211941918UMODc.804C= (p.Ala268=)
c.903C= (p.Ala301=)
c.951C= (p.Ala317=)
c.888C= (p.Ala296=)
n.1029C=
16g.20348497G>TCA7939403UMODc.804C>A (p.Ala268=)
c.903C>A (p.Ala301=)
c.951C>A (p.Ala317=)
c.888C>A (p.Ala296=)
n.1029C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348498G>ACA394984345UMODc.803C>T (p.Ala268Val)
c.902C>T (p.Ala301Val)
c.950C>T (p.Ala317Val)
c.887C>T (p.Ala296Val)
n.1028C>T
 gnomAD v4
16g.20348498G>CCA394984350UMODc.803C>G (p.Ala268Gly)
c.902C>G (p.Ala301Gly)
c.950C>G (p.Ala317Gly)
c.887C>G (p.Ala296Gly)
n.1028C>G
16g.20348498G>TCA394984354UMODc.803C>A (p.Ala268Asp)
c.902C>A (p.Ala301Asp)
c.950C>A (p.Ala317Asp)
c.887C>A (p.Ala296Asp)
n.1028C>A
 gnomAD v4
16g.20348498_20348499insATCA2501700175UMODc.802_803insAT (p.Ala268AspfsTer10)
c.901_902insAT (p.Ala301AspfsTer10)
c.949_950insAT (p.Ala317AspfsTer10)
c.886_887insAT (p.Ala296AspfsTer10)
n.1027_1028insAT
16g.20348499C>ACA394984363UMODc.802G>T (p.Ala268Ser)
c.901G>T (p.Ala301Ser)
c.949G>T (p.Ala317Ser)
c.886G>T (p.Ala296Ser)
n.1027G>T
16g.20348499C>GCA394984364UMODc.802G>C (p.Ala268Pro)
c.901G>C (p.Ala301Pro)
c.949G>C (p.Ala317Pro)
c.886G>C (p.Ala296Pro)
n.1027G>C
16g.20348499C>TCA394984365UMODc.802G>A (p.Ala268Thr)
c.901G>A (p.Ala301Thr)
c.949G>A (p.Ala317Thr)
c.886G>A (p.Ala296Thr)
n.1027G>A
16g.20348500A>CCA394984368UMODc.801T>G (p.Cys267Trp)
c.900T>G (p.Cys300Trp)
c.948T>G (p.Cys316Trp)
c.885T>G (p.Cys295Trp)
n.1026T>G
16g.20348500A>GCA494097064UMODc.801T>C (p.Cys267=)
c.900T>C (p.Cys300=)
c.948T>C (p.Cys316=)
c.885T>C (p.Cys295=)
n.1026T>C
16g.20348500A>TCA394984366UMODc.801T>A (p.Cys267Ter)
c.900T>A (p.Cys300Ter)
c.948T>A (p.Cys316Ter)
c.885T>A (p.Cys295Ter)
n.1026T>A
16g.20348501C>ACA394984370UMODc.800G>T (p.Cys267Phe)
c.899G>T (p.Cys300Phe)
c.947G>T (p.Cys316Phe)
c.884G>T (p.Cys295Phe)
n.1025G>T
 ClinVar dbSNP
16g.20348501C>GCA394984378UMODc.800G>C (p.Cys267Ser)
c.899G>C (p.Cys300Ser)
c.947G>C (p.Cys316Ser)
c.884G>C (p.Cys295Ser)
n.1025G>C
16g.20348501C>TCA394984381UMODc.800G>A (p.Cys267Tyr)
c.899G>A (p.Cys300Tyr)
c.947G>A (p.Cys316Tyr)
c.884G>A (p.Cys295Tyr)
n.1025G>A
16g.20348502A>CCA394984385UMODc.799T>G (p.Cys267Gly)
c.898T>G (p.Cys300Gly)
c.946T>G (p.Cys316Gly)
c.883T>G (p.Cys295Gly)
n.1024T>G
16g.20348502A>GCA394984393UMODc.799T>C (p.Cys267Arg)
c.898T>C (p.Cys300Arg)
c.946T>C (p.Cys316Arg)
c.883T>C (p.Cys295Arg)
n.1024T>C
 ClinVar
16g.20348502A>TCA394984395UMODc.799T>A (p.Cys267Ser)
c.898T>A (p.Cys300Ser)
c.946T>A (p.Cys316Ser)
c.883T>A (p.Cys295Ser)
n.1024T>A
16g.20348503G>ACA494097066UMODc.798C>T (p.Ala266=)
c.897C>T (p.Ala299=)
c.945C>T (p.Ala315=)
c.882C>T (p.Ala294=)
n.1023C>T
16g.20348503G>CCA494097067UMODc.798C>G (p.Ala266=)
c.897C>G (p.Ala299=)
c.945C>G (p.Ala315=)
c.882C>G (p.Ala294=)
n.1023C>G
16g.20348503G>TCA494097068UMODc.798C>A (p.Ala266=)
c.897C>A (p.Ala299=)
c.945C>A (p.Ala315=)
c.882C>A (p.Ala294=)
n.1023C>A
16g.20348503_20348504delinsTTCA645590585UMODc.797_798delinsAA (p.Ala266Glu)
c.896_897delinsAA (p.Ala299Glu)
c.944_945delinsAA (p.Ala315Glu)
c.881_882delinsAA (p.Ala294Glu)
n.1022_1023delinsAA
 COSMIC COSMIC
16g.20348504G>ACA216159UMODc.797C>T (p.Ala266Val)
c.896C>T (p.Ala299Val)
c.944C>T (p.Ala315Val)
c.881C>T (p.Ala294Val)
n.1022C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348504G>CCA394984398UMODc.797C>G (p.Ala266Gly)
c.896C>G (p.Ala299Gly)
c.944C>G (p.Ala315Gly)
c.881C>G (p.Ala294Gly)
n.1022C>G
16g.20348504G=CA2211941920UMODc.797C= (p.Ala266=)
c.896C= (p.Ala299=)
c.944C= (p.Ala315=)
c.881C= (p.Ala294=)
n.1022C=
16g.20348504G>TCA394984401UMODc.797C>A (p.Ala266Asp)
c.896C>A (p.Ala299Asp)
c.944C>A (p.Ala315Asp)
c.881C>A (p.Ala294Asp)
n.1022C>A
 gnomAD v4
16g.20348505C>ACA7939405UMODc.796G>T (p.Ala266Ser)
c.895G>T (p.Ala299Ser)
c.943G>T (p.Ala315Ser)
c.880G>T (p.Ala294Ser)
n.1021G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348505C=CA2211941925UMODc.796G= (p.Ala266=)
c.895G= (p.Ala299=)
c.943G= (p.Ala315=)
c.880G= (p.Ala294=)
n.1021G=
16g.20348505C>GCA394984404UMODc.796G>C (p.Ala266Pro)
c.895G>C (p.Ala299Pro)
c.943G>C (p.Ala315Pro)
c.880G>C (p.Ala294Pro)
n.1021G>C
16g.20348505C>TCA394984405UMODc.796G>A (p.Ala266Thr)
c.895G>A (p.Ala299Thr)
c.943G>A (p.Ala315Thr)
c.880G>A (p.Ala294Thr)
n.1021G>A
 gnomAD v4
16g.20348506C>ACA394984408UMODc.795G>T (p.Lys265Asn)
c.894G>T (p.Lys298Asn)
c.942G>T (p.Lys314Asn)
c.879G>T (p.Lys293Asn)
n.1020G>T
 gnomAD v4
16g.20348506C=CA2211941929UMODc.795G= (p.Lys265=)
c.894G= (p.Lys298=)
c.942G= (p.Lys314=)
c.879G= (p.Lys293=)
n.1020G=
16g.20348506C>GCA394984406UMODc.795G>C (p.Lys265Asn)
c.894G>C (p.Lys298Asn)
c.942G>C (p.Lys314Asn)
c.879G>C (p.Lys293Asn)
n.1020G>C
16g.20348506C>TCA494097075UMODc.795G>A (p.Lys265=)
c.894G>A (p.Lys298=)
c.942G>A (p.Lys314=)
c.879G>A (p.Lys293=)
n.1020G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348507T>ACA7939406UMODc.794A>T (p.Lys265Met)
c.893A>T (p.Lys298Met)
c.941A>T (p.Lys314Met)
c.878A>T (p.Lys293Met)
n.1019A>T
 dbSNP ExAC gnomAD v2
16g.20348507T>CCA394984416UMODc.794A>G (p.Lys265Arg)
c.893A>G (p.Lys298Arg)
c.941A>G (p.Lys314Arg)
c.878A>G (p.Lys293Arg)
n.1019A>G
 gnomAD v4
16g.20348507T>GCA394984418UMODc.794A>C (p.Lys265Thr)
c.893A>C (p.Lys298Thr)
c.941A>C (p.Lys314Thr)
c.878A>C (p.Lys293Thr)
n.1019A>C
 gnomAD v4
16g.20348507T=CA2211941934UMODc.794A= (p.Lys265=)
c.893A= (p.Lys298=)
c.941A= (p.Lys314=)
c.878A= (p.Lys293=)
n.1019A=
16g.20348508T>ACA394984421UMODc.793A>T (p.Lys265Ter)
c.892A>T (p.Lys298Ter)
c.940A>T (p.Lys314Ter)
c.877A>T (p.Lys293Ter)
n.1018A>T
16g.20348508T>CCA394984426UMODc.793A>G (p.Lys265Glu)
c.892A>G (p.Lys298Glu)
c.940A>G (p.Lys314Glu)
c.877A>G (p.Lys293Glu)
n.1018A>G
16g.20348508T>GCA394984429UMODc.793A>C (p.Lys265Gln)
c.892A>C (p.Lys298Gln)
c.940A>C (p.Lys314Gln)
c.877A>C (p.Lys293Gln)
n.1018A>C
16g.20348509_20348513delCA2806163729UMODc.789_793del (p.Val264GlyfsTer?)
c.888_892del (p.Val297GlyfsTer?)
c.936_940del (p.Val313GlyfsTer?)
c.873_877del (p.Val292GlyfsTer?)
n.1014_1018del
16g.20348508_20348515delinsTCACCTGGCA2211941936UMODc.786_793delinsCCAGGTGA (p.Val262=)
c.885_892delinsCCAGGTGA (p.Val295=)
c.933_940delinsCCAGGTGA (p.Val311=)
c.870_877delinsCCAGGTGA (p.Val290=)
n.1011_1018delinsCCAGGTGA
16g.20348509C>ACA494097080UMODc.792G>T (p.Val264=)
c.891G>T (p.Val297=)
c.939G>T (p.Val313=)
c.876G>T (p.Val292=)
n.1017G>T
 dbSNP gnomAD v4
16g.20348509C=CA2211941944UMODc.792G= (p.Val264=)
c.891G= (p.Val297=)
c.939G= (p.Val313=)
c.876G= (p.Val292=)
n.1017G=
16g.20348509C>GCA494097081UMODc.792G>C (p.Val264=)
c.891G>C (p.Val297=)
c.939G>C (p.Val313=)
c.876G>C (p.Val292=)
n.1017G>C
16g.20348509C>TCA147649UMODc.792G>A (p.Val264=)
c.891G>A (p.Val297=)
c.939G>A (p.Val313=)
c.876G>A (p.Val292=)
n.1017G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348509_20348515delCA2211941945UMODc.786_792del (p.Gln263ArgfsTer12)
c.885_891del (p.Gln296ArgfsTer12)
c.933_939del (p.Gln312ArgfsTer12)
c.870_876del (p.Gln291ArgfsTer12)
n.1011_1017del
 dbSNP
16g.20348510A=CA2211941961UMODc.791T= (p.Val264=)
c.890T= (p.Val297=)
c.938T= (p.Val313=)
c.875T= (p.Val292=)
n.1016T=
16g.20348510A>CCA394984434UMODc.791T>G (p.Val264Gly)
c.890T>G (p.Val297Gly)
c.938T>G (p.Val313Gly)
c.875T>G (p.Val292Gly)
n.1016T>G
 dbSNP
16g.20348510A>GCA394984435UMODc.791T>C (p.Val264Ala)
c.890T>C (p.Val297Ala)
c.938T>C (p.Val313Ala)
c.875T>C (p.Val292Ala)
n.1016T>C
16g.20348510A>TCA394984437UMODc.791T>A (p.Val264Glu)
c.890T>A (p.Val297Glu)
c.938T>A (p.Val313Glu)
c.875T>A (p.Val292Glu)
n.1016T>A
16g.20348511C>ACA394984439UMODc.790G>T (p.Val264Leu)
c.889G>T (p.Val297Leu)
c.937G>T (p.Val313Leu)
c.874G>T (p.Val292Leu)
n.1015G>T
16g.20348511C=CA2211941968UMODc.790G= (p.Val264=)
c.889G= (p.Val297=)
c.937G= (p.Val313=)
c.874G= (p.Val292=)
n.1015G=
16g.20348511C>GCA394984441UMODc.790G>C (p.Val264Leu)
c.889G>C (p.Val297Leu)
c.937G>C (p.Val313Leu)
c.874G>C (p.Val292Leu)
n.1015G>C
 COSMIC COSMIC
16g.20348511C>TCA7939407UMODc.790G>A (p.Val264Met)
c.889G>A (p.Val297Met)
c.937G>A (p.Val313Met)
c.874G>A (p.Val292Met)
n.1015G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348512C>ACA394984449UMODc.789G>T (p.Gln263His)
c.888G>T (p.Gln296His)
c.936G>T (p.Gln312His)
c.873G>T (p.Gln291His)
n.1014G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348512C=CA2211941973UMODc.789G= (p.Gln263=)
c.888G= (p.Gln296=)
c.936G= (p.Gln312=)
c.873G= (p.Gln291=)
n.1014G=
16g.20348512C>GCA394984446UMODc.789G>C (p.Gln263His)
c.888G>C (p.Gln296His)
c.936G>C (p.Gln312His)
c.873G>C (p.Gln291His)
n.1014G>C
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348512C>TCA494097090UMODc.789G>A (p.Gln263=)
c.888G>A (p.Gln296=)
c.936G>A (p.Gln312=)
c.873G>A (p.Gln291=)
n.1014G>A
 gnomAD v4
16g.20348513T>ACA394984454UMODc.788A>T (p.Gln263Leu)
c.887A>T (p.Gln296Leu)
c.935A>T (p.Gln312Leu)
c.872A>T (p.Gln291Leu)
n.1013A>T
16g.20348513T>CCA394984456UMODc.788A>G (p.Gln263Arg)
c.887A>G (p.Gln296Arg)
c.935A>G (p.Gln312Arg)
c.872A>G (p.Gln291Arg)
n.1013A>G
 gnomAD v4
16g.20348513T>GCA394984458UMODc.788A>C (p.Gln263Pro)
c.887A>C (p.Gln296Pro)
c.935A>C (p.Gln312Pro)
c.872A>C (p.Gln291Pro)
n.1013A>C
16g.20348514G>ACA394984462UMODc.787C>T (p.Gln263Ter)
c.886C>T (p.Gln296Ter)
c.934C>T (p.Gln312Ter)
c.871C>T (p.Gln291Ter)
n.1012C>T
 COSMIC
16g.20348514G>CCA394984465UMODc.787C>G (p.Gln263Glu)
c.886C>G (p.Gln296Glu)
c.934C>G (p.Gln312Glu)
c.871C>G (p.Gln291Glu)
n.1012C>G
16g.20348514G>TCA394984467UMODc.787C>A (p.Gln263Lys)
c.886C>A (p.Gln296Lys)
c.934C>A (p.Gln312Lys)
c.871C>A (p.Gln291Lys)
n.1012C>A
16g.20348515G>ACA7939408UMODc.786C>T (p.Val262=)
c.885C>T (p.Val295=)
c.933C>T (p.Val311=)
c.870C>T (p.Val290=)
n.1011C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348515G>CCA494097094UMODc.786C>G (p.Val262=)
c.885C>G (p.Val295=)
c.933C>G (p.Val311=)
c.870C>G (p.Val290=)
n.1011C>G
16g.20348515G=CA2211941983UMODc.786C= (p.Val262=)
c.885C= (p.Val295=)
c.933C= (p.Val311=)
c.870C= (p.Val290=)
n.1011C=
16g.20348515G>TCA494097096UMODc.786C>A (p.Val262=)
c.885C>A (p.Val295=)
c.933C>A (p.Val311=)
c.870C>A (p.Val290=)
n.1011C>A
16g.20348515_20348516delCA2806163730UMODc.785_786del (p.Val262AlafsTer?)
c.884_885del (p.Val295AlafsTer?)
c.932_933del (p.Val311AlafsTer?)
c.869_870del (p.Val290AlafsTer?)
n.1010_1011del
16g.20348516A=CA2211941987UMODc.785T= (p.Val262=)
c.884T= (p.Val295=)
c.932T= (p.Val311=)
c.869T= (p.Val290=)
n.1010T=
16g.20348516A>CCA394984473UMODc.785T>G (p.Val262Gly)
c.884T>G (p.Val295Gly)
c.932T>G (p.Val311Gly)
c.869T>G (p.Val290Gly)
n.1010T>G
16g.20348516A>GCA394984475UMODc.785T>C (p.Val262Ala)
c.884T>C (p.Val295Ala)
c.932T>C (p.Val311Ala)
c.869T>C (p.Val290Ala)
n.1010T>C
 dbSNP gnomAD v4
16g.20348516A>TCA394984477UMODc.785T>A (p.Val262Asp)
c.884T>A (p.Val295Asp)
c.932T>A (p.Val311Asp)
c.869T>A (p.Val290Asp)
n.1010T>A
16g.20348517C>ACA394984480UMODc.784G>T (p.Val262Phe)
c.883G>T (p.Val295Phe)
c.931G>T (p.Val311Phe)
c.868G>T (p.Val290Phe)
n.1009G>T
16g.20348517C>GCA394984482UMODc.784G>C (p.Val262Leu)
c.883G>C (p.Val295Leu)
c.931G>C (p.Val311Leu)
c.868G>C (p.Val290Leu)
n.1009G>C
16g.20348517C>TCA394984495UMODc.784G>A (p.Val262Ile)
c.883G>A (p.Val295Ile)
c.931G>A (p.Val311Ile)
c.868G>A (p.Val290Ile)
n.1009G>A
16g.20348518G>ACA494097097UMODc.783C>T (p.Ser261=)
c.882C>T (p.Ser294=)
c.930C>T (p.Ser310=)
c.867C>T (p.Ser289=)
n.1008C>T
16g.20348518G>CCA494097098UMODc.783C>G (p.Ser261=)
c.882C>G (p.Ser294=)
c.930C>G (p.Ser310=)
c.867C>G (p.Ser289=)
n.1008C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348518G=CA2211941992UMODc.783C= (p.Ser261=)
c.882C= (p.Ser294=)
c.930C= (p.Ser310=)
c.867C= (p.Ser289=)
n.1008C=
16g.20348518G>TCA494097099UMODc.783C>A (p.Ser261=)
c.882C>A (p.Ser294=)
c.930C>A (p.Ser310=)
c.867C>A (p.Ser289=)
n.1008C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348519G>ACA394984503UMODc.782C>T (p.Ser261Phe)
c.881C>T (p.Ser294Phe)
c.929C>T (p.Ser310Phe)
c.866C>T (p.Ser289Phe)
n.1007C>T
 gnomAD v4
16g.20348519G>CCA394984506UMODc.782C>G (p.Ser261Cys)
c.881C>G (p.Ser294Cys)
c.929C>G (p.Ser310Cys)
c.866C>G (p.Ser289Cys)
n.1007C>G
16g.20348519G>TCA394984500UMODc.782C>A (p.Ser261Tyr)
c.881C>A (p.Ser294Tyr)
c.929C>A (p.Ser310Tyr)
c.866C>A (p.Ser289Tyr)
n.1007C>A
 gnomAD v4
16g.20348519_20348527delinsGACGCATCCCA2211941996UMODc.774_782delinsGGATGCGTC (p.Trp258=)
c.873_881delinsGGATGCGTC (p.Trp291=)
c.921_929delinsGGATGCGTC (p.Trp307=)
c.858_866delinsGGATGCGTC (p.Trp286=)
n.999_1007delinsGGATGCGTC
16g.20348520A>CCA394984511UMODc.781T>G (p.Ser261Ala)
c.880T>G (p.Ser294Ala)
c.928T>G (p.Ser310Ala)
c.865T>G (p.Ser289Ala)
n.1006T>G
16g.20348520A>GCA394984508UMODc.781T>C (p.Ser261Pro)
c.880T>C (p.Ser294Pro)
c.928T>C (p.Ser310Pro)
c.865T>C (p.Ser289Pro)
n.1006T>C
 gnomAD v4
16g.20348520A>TCA394984515UMODc.781T>A (p.Ser261Thr)
c.880T>A (p.Ser294Thr)
c.928T>A (p.Ser310Thr)
c.865T>A (p.Ser289Thr)
n.1006T>A
16g.20348520_20348527delCA2211942001UMODc.774_781del (p.Trp258CysfsTer?)
c.873_880del (p.Trp291CysfsTer?)
c.921_928del (p.Trp307CysfsTer?)
c.858_865del (p.Trp286CysfsTer?)
n.999_1006del
 dbSNP
16g.20348521C>ACA494097106UMODc.780G>T (p.Ala260=)
c.879G>T (p.Ala293=)
c.927G>T (p.Ala309=)
c.864G>T (p.Ala288=)
n.1005G>T
 gnomAD v4
16g.20348521C=CA2211942004UMODc.780G= (p.Ala260=)
c.879G= (p.Ala293=)
c.927G= (p.Ala309=)
c.864G= (p.Ala288=)
n.1005G=
16g.20348521C>GCA494097107UMODc.780G>C (p.Ala260=)
c.879G>C (p.Ala293=)
c.927G>C (p.Ala309=)
c.864G>C (p.Ala288=)
n.1005G>C
16g.20348521C>TCA494097108UMODc.780G>A (p.Ala260=)
c.879G>A (p.Ala293=)
c.927G>A (p.Ala309=)
c.864G>A (p.Ala288=)
n.1005G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348522G>ACA394984518UMODc.779C>T (p.Ala260Val)
c.878C>T (p.Ala293Val)
c.926C>T (p.Ala309Val)
c.863C>T (p.Ala288Val)
n.1004C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348522G>CCA394984519UMODc.779C>G (p.Ala260Gly)
c.878C>G (p.Ala293Gly)
c.926C>G (p.Ala309Gly)
c.863C>G (p.Ala288Gly)
n.1004C>G
16g.20348522G=CA2211942013UMODc.779C= (p.Ala260=)
c.878C= (p.Ala293=)
c.926C= (p.Ala309=)
c.863C= (p.Ala288=)
n.1004C=
16g.20348522G>TCA279299665UMODc.779C>A (p.Ala260Glu)
c.878C>A (p.Ala293Glu)
c.926C>A (p.Ala309Glu)
c.863C>A (p.Ala288Glu)
n.1004C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348523C>ACA394984522UMODc.778G>T (p.Ala260Ser)
c.877G>T (p.Ala293Ser)
c.925G>T (p.Ala309Ser)
c.862G>T (p.Ala288Ser)
n.1003G>T
16g.20348523C>GCA394984523UMODc.778G>C (p.Ala260Pro)
c.877G>C (p.Ala293Pro)
c.925G>C (p.Ala309Pro)
c.862G>C (p.Ala288Pro)
n.1003G>C
16g.20348523C>TCA394984524UMODc.778G>A (p.Ala260Thr)
c.877G>A (p.Ala293Thr)
c.925G>A (p.Ala309Thr)
c.862G>A (p.Ala288Thr)
n.1003G>A
16g.20348524A>CCA394984525UMODc.777T>G (p.Asp259Glu)
c.876T>G (p.Asp292Glu)
c.924T>G (p.Asp308Glu)
c.861T>G (p.Asp287Glu)
n.1002T>G
16g.20348524A>GCA494097109UMODc.777T>C (p.Asp259=)
c.876T>C (p.Asp292=)
c.924T>C (p.Asp308=)
c.861T>C (p.Asp287=)
n.1002T>C
 gnomAD v4
16g.20348524A>TCA394984529UMODc.777T>A (p.Asp259Glu)
c.876T>A (p.Asp292Glu)
c.924T>A (p.Asp308Glu)
c.861T>A (p.Asp287Glu)
n.1002T>A
16g.20348525T>ACA394984532UMODc.776A>T (p.Asp259Val)
c.875A>T (p.Asp292Val)
c.923A>T (p.Asp308Val)
c.860A>T (p.Asp287Val)
n.1001A>T
16g.20348525T>CCA394984534UMODc.776A>G (p.Asp259Gly)
c.875A>G (p.Asp292Gly)
c.923A>G (p.Asp308Gly)
c.860A>G (p.Asp287Gly)
n.1001A>G
 COSMIC
16g.20348525T>GCA394984536UMODc.776A>C (p.Asp259Ala)
c.875A>C (p.Asp292Ala)
c.923A>C (p.Asp308Ala)
c.860A>C (p.Asp287Ala)
n.1001A>C
16g.20348525_20348527delinsTCCCA2211942017UMODc.774_776delinsGGA (p.Trp258=)
c.873_875delinsGGA (p.Trp291=)
c.921_923delinsGGA (p.Trp307=)
c.858_860delinsGGA (p.Trp286=)
n.999_1001delinsGGA
16g.20348526C>ACA394984542UMODc.775G>T (p.Asp259Tyr)
c.874G>T (p.Asp292Tyr)
c.922G>T (p.Asp308Tyr)
c.859G>T (p.Asp287Tyr)
n.1000G>T
16g.20348526C=CA2211942021UMODc.775G= (p.Asp259=)
c.874G= (p.Asp292=)
c.922G= (p.Asp308=)
c.859G= (p.Asp287=)
n.1000G=
16g.20348526C>GCA394984541UMODc.775G>C (p.Asp259His)
c.874G>C (p.Asp292His)
c.922G>C (p.Asp308His)
c.859G>C (p.Asp287His)
n.1000G>C
16g.20348526C>TCA394984539UMODc.775G>A (p.Asp259Asn)
c.874G>A (p.Asp292Asn)
c.922G>A (p.Asp308Asn)
c.859G>A (p.Asp287Asn)
n.1000G>A
 dbSNP gnomAD v2
16g.20348527_20348528delCA7939409UMODc.774_775del (p.Trp258Ter)
c.873_874del (p.Trp291Ter)
c.921_922del (p.Trp307Ter)
c.858_859del (p.Trp286Ter)
n.999_1000del
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348527C>ACA394984544UMODc.774G>T (p.Trp258Cys)
c.873G>T (p.Trp291Cys)
c.921G>T (p.Trp307Cys)
c.858G>T (p.Trp286Cys)
n.999G>T
 gnomAD v4
16g.20348527C=CA2211942026UMODc.774G= (p.Trp258=)
c.873G= (p.Trp291=)
c.921G= (p.Trp307=)
c.858G= (p.Trp286=)
n.999G=
16g.20348527C>GCA394984546UMODc.774G>C (p.Trp258Cys)
c.873G>C (p.Trp291Cys)
c.921G>C (p.Trp307Cys)
c.858G>C (p.Trp286Cys)
n.999G>C
 ClinVar dbSNP
16g.20348527C>TCA394984548UMODc.774G>A (p.Trp258Ter)
c.873G>A (p.Trp291Ter)
c.921G>A (p.Trp307Ter)
c.858G>A (p.Trp286Ter)
n.999G>A
16g.20348528C>ACA394984550UMODc.773G>T (p.Trp258Leu)
c.872G>T (p.Trp291Leu)
c.920G>T (p.Trp307Leu)
c.857G>T (p.Trp286Leu)
n.998G>T
 gnomAD v4
16g.20348528C>GCA394984554UMODc.773G>C (p.Trp258Ser)
c.872G>C (p.Trp291Ser)
c.920G>C (p.Trp307Ser)
c.857G>C (p.Trp286Ser)
n.998G>C
16g.20348528C>TCA394984558UMODc.773G>A (p.Trp258Ter)
c.872G>A (p.Trp291Ter)
c.920G>A (p.Trp307Ter)
c.857G>A (p.Trp286Ter)
n.998G>A
 gnomAD v4
16g.20348529A>CCA394984559UMODc.772T>G (p.Trp258Gly)
c.871T>G (p.Trp291Gly)
c.919T>G (p.Trp307Gly)
c.856T>G (p.Trp286Gly)
n.997T>G
16g.20348529A>GCA394984562UMODc.772T>C (p.Trp258Arg)
c.871T>C (p.Trp291Arg)
c.919T>C (p.Trp307Arg)
c.856T>C (p.Trp286Arg)
n.997T>C
 gnomAD v4
16g.20348529A>TCA394984566UMODc.772T>A (p.Trp258Arg)
c.871T>A (p.Trp291Arg)
c.919T>A (p.Trp307Arg)
c.856T>A (p.Trp286Arg)
n.997T>A
16g.20348530C>ACA494097120UMODc.771G>T (p.Leu257=)
c.870G>T (p.Leu290=)
c.918G>T (p.Leu306=)
c.855G>T (p.Leu285=)
n.996G>T
16g.20348530C>GCA494097118UMODc.771G>C (p.Leu257=)
c.870G>C (p.Leu290=)
c.918G>C (p.Leu306=)
c.855G>C (p.Leu285=)
n.996G>C
16g.20348530C>TCA494097119UMODc.771G>A (p.Leu257=)
c.870G>A (p.Leu290=)
c.918G>A (p.Leu306=)
c.855G>A (p.Leu285=)
n.996G>A
 gnomAD v4
16g.20348531A>CCA394984570UMODc.770T>G (p.Leu257Arg)
c.869T>G (p.Leu290Arg)
c.917T>G (p.Leu306Arg)
c.854T>G (p.Leu285Arg)
n.995T>G
16g.20348531A>GCA394984572UMODc.770T>C (p.Leu257Pro)
c.869T>C (p.Leu290Pro)
c.917T>C (p.Leu306Pro)
c.854T>C (p.Leu285Pro)
n.995T>C
 gnomAD v4
16g.20348531A>TCA394984573UMODc.770T>A (p.Leu257Gln)
c.869T>A (p.Leu290Gln)
c.917T>A (p.Leu306Gln)
c.854T>A (p.Leu285Gln)
n.995T>A
 gnomAD v4
16g.20348531_20348541delinsAGGCAGCAGTGCA2211942031UMODc.760_770delinsCACTGCTGCCT (p.His254=)
c.859_869delinsCACTGCTGCCT (p.His287=)
c.907_917delinsCACTGCTGCCT (p.His303=)
c.844_854delinsCACTGCTGCCT (p.His282=)
n.985_995delinsCACTGCTGCCT
16g.20348532G>ACA494097124UMODc.769C>T (p.Leu257=)
c.868C>T (p.Leu290=)
c.916C>T (p.Leu306=)
c.853C>T (p.Leu285=)
n.994C>T
16g.20348532G>CCA394984576UMODc.769C>G (p.Leu257Val)
c.868C>G (p.Leu290Val)
c.916C>G (p.Leu306Val)
c.853C>G (p.Leu285Val)
n.994C>G
16g.20348532G>TCA394984577UMODc.769C>A (p.Leu257Met)
c.868C>A (p.Leu290Met)
c.916C>A (p.Leu306Met)
c.853C>A (p.Leu285Met)
n.994C>A
 gnomAD v4
16g.20348533_20348542delCA2211942036UMODc.760_769del (p.His254CysfsTer8)
c.859_868del (p.His287CysfsTer8)
c.907_916del (p.His303CysfsTer8)
c.844_853del (p.His282CysfsTer8)
n.985_994del
 dbSNP
16g.20348533G>ACA7939410UMODc.768C>T (p.Cys256=)
c.867C>T (p.Cys289=)
c.915C>T (p.Cys305=)
c.852C>T (p.Cys284=)
n.993C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348533G>CCA394984578UMODc.768C>G (p.Cys256Trp)
c.867C>G (p.Cys289Trp)
c.915C>G (p.Cys305Trp)
c.852C>G (p.Cys284Trp)
n.993C>G
 ClinVar dbSNP
16g.20348533G=CA2211942042UMODc.768C= (p.Cys256=)
c.867C= (p.Cys289=)
c.915C= (p.Cys305=)
c.852C= (p.Cys284=)
n.993C=
16g.20348533G>TCA394984579UMODc.768C>A (p.Cys256Ter)
c.867C>A (p.Cys289Ter)
c.915C>A (p.Cys305Ter)
c.852C>A (p.Cys284Ter)
n.993C>A
 gnomAD v4
16g.20348534C>ACA394984580UMODc.767G>T (p.Cys256Phe)
c.866G>T (p.Cys289Phe)
c.914G>T (p.Cys305Phe)
c.851G>T (p.Cys284Phe)
n.992G>T
16g.20348534C>GCA394984597UMODc.767G>C (p.Cys256Ser)
c.866G>C (p.Cys289Ser)
c.914G>C (p.Cys305Ser)
c.851G>C (p.Cys284Ser)
n.992G>C
 ClinVar
16g.20348534C>TCA394984602UMODc.767G>A (p.Cys256Tyr)
c.866G>A (p.Cys289Tyr)
c.914G>A (p.Cys305Tyr)
c.851G>A (p.Cys284Tyr)
n.992G>A
 gnomAD v4
16g.20348535A>CCA394984615UMODc.766T>G (p.Cys256Gly)
c.865T>G (p.Cys289Gly)
c.913T>G (p.Cys305Gly)
c.850T>G (p.Cys284Gly)
n.991T>G
16g.20348535A>GCA394984606UMODc.766T>C (p.Cys256Arg)
c.865T>C (p.Cys289Arg)
c.913T>C (p.Cys305Arg)
c.850T>C (p.Cys284Arg)
n.991T>C
16g.20348535A>TCA394984613UMODc.766T>A (p.Cys256Ser)
c.865T>A (p.Cys289Ser)
c.913T>A (p.Cys305Ser)
c.850T>A (p.Cys284Ser)
n.991T>A
16g.20348536G>ACA494097131UMODc.765C>T (p.Cys255=)
c.864C>T (p.Cys288=)
c.912C>T (p.Cys304=)
c.849C>T (p.Cys283=)
n.990C>T
16g.20348536G>CCA394984619UMODc.765C>G (p.Cys255Trp)
c.864C>G (p.Cys288Trp)
c.912C>G (p.Cys304Trp)
c.849C>G (p.Cys283Trp)
n.990C>G
16g.20348536G=CA2211942046UMODc.765C= (p.Cys255=)
c.864C= (p.Cys288=)
c.912C= (p.Cys304=)
c.849C= (p.Cys283=)
n.990C=
16g.20348536G>TCA394984621UMODc.765C>A (p.Cys255Ter)
c.864C>A (p.Cys288Ter)
c.912C>A (p.Cys304Ter)
c.849C>A (p.Cys283Ter)
n.990C>A
 dbSNP gnomAD v4
16g.20348537C>ACA394984622UMODc.764G>T (p.Cys255Phe)
c.863G>T (p.Cys288Phe)
c.911G>T (p.Cys304Phe)
c.848G>T (p.Cys283Phe)
n.989G>T
16g.20348537C=CA2211942050UMODc.764G= (p.Cys255=)
c.863G= (p.Cys288=)
c.911G= (p.Cys304=)
c.848G= (p.Cys283=)
n.989G=
16g.20348537C>GCA394984623UMODc.764G>C (p.Cys255Ser)
c.863G>C (p.Cys288Ser)
c.911G>C (p.Cys304Ser)
c.848G>C (p.Cys283Ser)
n.989G>C
16g.20348537C>TCA256250UMODc.764G>A (p.Cys255Tyr)
c.863G>A (p.Cys288Tyr)
c.911G>A (p.Cys304Tyr)
c.848G>A (p.Cys283Tyr)
n.989G>A
 ClinVar dbSNP gnomAD v4
16g.20348538A>CCA394984624UMODc.763T>G (p.Cys255Gly)
c.862T>G (p.Cys288Gly)
c.910T>G (p.Cys304Gly)
c.847T>G (p.Cys283Gly)
n.988T>G
16g.20348538A>GCA394984627UMODc.763T>C (p.Cys255Arg)
c.862T>C (p.Cys288Arg)
c.910T>C (p.Cys304Arg)
c.847T>C (p.Cys283Arg)
n.988T>C
16g.20348538A>TCA394984625UMODc.763T>A (p.Cys255Ser)
c.862T>A (p.Cys288Ser)
c.910T>A (p.Cys304Ser)
c.847T>A (p.Cys283Ser)
n.988T>A
16g.20348539G>ACA494097135UMODc.762C>T (p.His254=)
c.861C>T (p.His287=)
c.909C>T (p.His303=)
c.846C>T (p.His282=)
n.987C>T
16g.20348539G>CCA394984631UMODc.762C>G (p.His254Gln)
c.861C>G (p.His287Gln)
c.909C>G (p.His303Gln)
c.846C>G (p.His282Gln)
n.987C>G
16g.20348539G>TCA394984635UMODc.762C>A (p.His254Gln)
c.861C>A (p.His287Gln)
c.909C>A (p.His303Gln)
c.846C>A (p.His282Gln)
n.987C>A
 gnomAD v4
16g.20348540T>ACA394984637UMODc.761A>T (p.His254Leu)
c.860A>T (p.His287Leu)
c.908A>T (p.His303Leu)
c.845A>T (p.His282Leu)
n.986A>T
16g.20348540T>CCA394984646UMODc.761A>G (p.His254Arg)
c.860A>G (p.His287Arg)
c.908A>G (p.His303Arg)
c.845A>G (p.His282Arg)
n.986A>G
16g.20348540T>GCA394984650UMODc.761A>C (p.His254Pro)
c.860A>C (p.His287Pro)
c.908A>C (p.His303Pro)
c.845A>C (p.His282Pro)
n.986A>C
16g.20348541G>ACA394984654UMODc.760C>T (p.His254Tyr)
c.859C>T (p.His287Tyr)
c.907C>T (p.His303Tyr)
c.844C>T (p.His282Tyr)
n.985C>T
 gnomAD v4
16g.20348541G>CCA394984656UMODc.760C>G (p.His254Asp)
c.859C>G (p.His287Asp)
c.907C>G (p.His303Asp)
c.844C>G (p.His282Asp)
n.985C>G
16g.20348541G>TCA394984668UMODc.760C>A (p.His254Asn)
c.859C>A (p.His287Asn)
c.907C>A (p.His303Asn)
c.844C>A (p.His282Asn)
n.985C>A
 gnomAD v4
16g.20348542G>ACA494097139UMODc.759C>T (p.Gly253=)
c.858C>T (p.Gly286=)
c.906C>T (p.Gly302=)
c.843C>T (p.Gly281=)
n.984C>T
 dbSNP
16g.20348542G>CCA494097140UMODc.759C>G (p.Gly253=)
c.858C>G (p.Gly286=)
c.906C>G (p.Gly302=)
c.843C>G (p.Gly281=)
n.984C>G
16g.20348542G=CA2211942058UMODc.759C= (p.Gly253=)
c.858C= (p.Gly286=)
c.906C= (p.Gly302=)
c.843C= (p.Gly281=)
n.984C=
16g.20348542G>TCA494097141UMODc.759C>A (p.Gly253=)
c.858C>A (p.Gly286=)
c.906C>A (p.Gly302=)
c.843C>A (p.Gly281=)
n.984C>A
 gnomAD v4
16g.20348543C>ACA394984673UMODc.758G>T (p.Gly253Val)
c.857G>T (p.Gly286Val)
c.905G>T (p.Gly302Val)
c.842G>T (p.Gly281Val)
n.983G>T
16g.20348543C=CA2211942066UMODc.758G= (p.Gly253=)
c.857G= (p.Gly286=)
c.905G= (p.Gly302=)
c.842G= (p.Gly281=)
n.983G=
16g.20348543C>GCA394984677UMODc.758G>C (p.Gly253Ala)
c.857G>C (p.Gly286Ala)
c.905G>C (p.Gly302Ala)
c.842G>C (p.Gly281Ala)
n.983G>C
16g.20348543C>TCA7939411UMODc.758G>A (p.Gly253Asp)
c.857G>A (p.Gly286Asp)
c.905G>A (p.Gly302Asp)
c.842G>A (p.Gly281Asp)
n.983G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched