Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.49457736T>ACA364403940MMUTc.708A>T (p.Glu236Asp)
dbSNP
6g.49457736T>CCA450608757MMUTc.708A>G (p.Glu236=)
gnomAD v4
6g.49457736T>GCA364403941MMUTc.708A>C (p.Glu236Asp)
dbSNP
6g.49457736T=CA1627392080MMUTc.708A= (p.Glu236=)
6g.49457737T>ACA364403943MMUTc.707A>T (p.Glu236Val)
6g.49457737T>CCA364403945MMUTc.707A>G (p.Glu236Gly)
6g.49457737T>GCA364403950MMUTc.707A>C (p.Glu236Ala)
6g.49457738C>ACA364403951MMUTc.706G>T (p.Glu236Ter)
ClinVar dbSNP
6g.49457738C=CA1627392081MMUTc.706G= (p.Glu236=)
6g.49457738C>GCA364403953MMUTc.706G>C (p.Glu236Gln)
6g.49457738C>TCA364403959MMUTc.706G>A (p.Glu236Lys)
gnomAD v4
6g.49457739T>ACA450608758MMUTc.705A>T (p.Pro235=)
6g.49457739T>CCA138799525MMUTc.705A>G (p.Pro235=)
dbSNP
6g.49457739T>GCA450608759MMUTc.705A>C (p.Pro235=)
6g.49457739T=CA1627392082MMUTc.705A= (p.Pro235=)
6g.49457740G>ACA364403965MMUTc.704C>T (p.Pro235Leu)
dbSNP gnomAD v2 gnomAD v4
6g.49457740G>CCA364403962MMUTc.704C>G (p.Pro235Arg)
6g.49457740G=CA1627392083MMUTc.704C= (p.Pro235=)
6g.49457740G>TCA364403960MMUTc.704C>A (p.Pro235Gln)
6g.49457741G>ACA364403974MMUTc.703C>T (p.Pro235Ser)
dbSNP
6g.49457741G>CCA364403981MMUTc.703C>G (p.Pro235Ala)
gnomAD v4
6g.49457741G=CA1627392084MMUTc.703C= (p.Pro235=)
6g.49457741G>TCA364403983MMUTc.703C>A (p.Pro235Thr)
6g.49457742A>CCA450608760MMUTc.702T>G (p.Pro234=)
6g.49457742A>GCA450608762MMUTc.702T>C (p.Pro234=)
6g.49457742A>TCA450608761MMUTc.702T>A (p.Pro234=)
6g.49457743G>ACA364403985MMUTc.701C>T (p.Pro234Leu)
6g.49457743G>CCA364403988MMUTc.701C>G (p.Pro234Arg)
6g.49457743G>TCA364403990MMUTc.701C>A (p.Pro234His)
6g.49457744G>ACA364404008MMUTc.700C>T (p.Pro234Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.49457744G>CCA364403995MMUTc.700C>G (p.Pro234Ala)
6g.49457744G=CA1627392085MMUTc.700C= (p.Pro234=)
6g.49457744G>TCA364403998MMUTc.700C>A (p.Pro234Thr)
6g.49457744_49457750delinsAAAAAAGCA915944262MMUTc.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)
ClinVar dbSNP
6g.49457744_49457750delinsGAAAAATCA1627392086MMUTc.694_700delinsATTTTTC (p.Ile232=)
6g.49457745A=CA1627392087MMUTc.699T= (p.Phe233=)
6g.49457745A>CCA364404013MMUTc.699T>G (p.Phe233Leu)
6g.49457745A>GCA450608763MMUTc.699T>C (p.Phe233=)
dbSNP
6g.49457745A>TCA364404015MMUTc.699T>A (p.Phe233Leu)
6g.49457749dupCA2578675207MMUTc.699dup (p.Pro234SerfsTer11)
6g.49457746A>CCA364404017MMUTc.698T>G (p.Phe233Cys)
6g.49457746A>GCA364404018MMUTc.698T>C (p.Phe233Ser)
6g.49457746A>TCA364404027MMUTc.698T>A (p.Phe233Tyr)
6g.49457747A>CCA364404031MMUTc.697T>G (p.Phe233Val)
6g.49457747A>GCA364404029MMUTc.697T>C (p.Phe233Leu)
6g.49457747A>TCA364404030MMUTc.697T>A (p.Phe233Ile)
6g.49457748A>CCA364404032MMUTc.696T>G (p.Ile232Met)
6g.49457748A>GCA450608764MMUTc.696T>C (p.Ile232=)
6g.49457748A>TCA450608765MMUTc.696T>A (p.Ile232=)
6g.49457749A>CCA364404034MMUTc.695T>G (p.Ile232Ser)
6g.49457749A>GCA364404037MMUTc.695T>C (p.Ile232Thr)
gnomAD v4
6g.49457749A>TCA364404044MMUTc.695T>A (p.Ile232Asn)
6g.49457750T>ACA364404048MMUTc.694A>T (p.Ile232Phe)
ClinVar dbSNP
6g.49457750T>CCA364404049MMUTc.694A>G (p.Ile232Val)
dbSNP
6g.49457750T>GCA364404050MMUTc.694A>C (p.Ile232Leu)
dbSNP gnomAD v2 gnomAD v4
6g.49457750T=CA1627392088MMUTc.694A= (p.Ile232=)
6g.49457750dupCA2695206681MMUTc.694dup (p.Ile232AsnfsTer13)
6g.49457751_49457752delCA2695206682MMUTc.693_694del (p.Ile232PhefsTer12)
6g.49457751delCA2695206683MMUTc.693del (p.Tyr231Ter)
6g.49457751G>ACA450608766MMUTc.693C>T (p.Tyr231=)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.49457751G>CCA10575877MMUTc.693C>G (p.Tyr231Ter)
ClinVar dbSNP
6g.49457751G=CA1627392089MMUTc.693C= (p.Tyr231=)
6g.49457751G>TCA364404051MMUTc.693C>A (p.Tyr231Ter)
6g.49457752T>ACA364404054MMUTc.692A>T (p.Tyr231Phe)
gnomAD v4
6g.49457752T>CCA364404062MMUTc.692A>G (p.Tyr231Cys)
dbSNP
6g.49457752T>GCA364404065MMUTc.692A>C (p.Tyr231Ser)
dbSNP
6g.49457752T=CA1627392090MMUTc.692A= (p.Tyr231=)
6g.49457752dupCA3847068MMUTc.692dup (p.Tyr231Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457753A=CA1627392091MMUTc.691T= (p.Tyr231=)
6g.49457753A>CCA364404070MMUTc.691T>G (p.Tyr231Asp)
6g.49457753A>GCA364404073MMUTc.691T>C (p.Tyr231His)
6g.49457753A>TCA347881MMUTc.691T>A (p.Tyr231Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49457754T>ACA450608767MMUTc.690A>T (p.Thr230=)
dbSNP
6g.49457754T>CCA450608768MMUTc.690A>G (p.Thr230=)
ClinVar gnomAD v4 COSMIC
6g.49457754T>GCA450608769MMUTc.690A>C (p.Thr230=)
6g.49457754T=CA1627392092MMUTc.690A= (p.Thr230=)
6g.49457755_49457756delCA2499218332MMUTc.689_690del (p.Thr230IlefsTer14)
ClinVar dbSNP
6g.49457755G>ACA364404076MMUTc.689C>T (p.Thr230Ile)
ClinVar dbSNP
6g.49457755G>CCA10575878MMUTc.689C>G (p.Thr230Arg)
ClinVar dbSNP gnomAD v4
6g.49457755G=CA1627392093MMUTc.689C= (p.Thr230=)
6g.49457755G>TCA364404077MMUTc.689C>A (p.Thr230Lys)
COSMIC
6g.49457756T>ACA364404079MMUTc.688A>T (p.Thr230Ser)
6g.49457756T>CCA364404082MMUTc.688A>G (p.Thr230Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49457756T>GCA364404085MMUTc.688A>C (p.Thr230Pro)
6g.49457756T=CA1627392094MMUTc.688A= (p.Thr230=)
6g.49457757A=CA1627392095MMUTc.687T= (p.Asn229=)
6g.49457757A>CCA364404089MMUTc.687T>G (p.Asn229Lys)
6g.49457757A>GCA3847069MMUTc.687T>C (p.Asn229=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457757A>TCA364404104MMUTc.687T>A (p.Asn229Lys)
gnomAD v4
6g.49457758T>ACA364404107MMUTc.686A>T (p.Asn229Ile)
6g.49457758T>CCA364404110MMUTc.686A>G (p.Asn229Ser)
6g.49457758T>GCA364404113MMUTc.686A>C (p.Asn229Thr)
6g.49457759T>ACA364404116MMUTc.685A>T (p.Asn229Tyr)
6g.49457759T>CCA364404114MMUTc.685A>G (p.Asn229Asp)
6g.49457759T>GCA364404115MMUTc.685A>C (p.Asn229His)
6g.49457760T>ACA450608770MMUTc.684A>T (p.Arg228=)
6g.49457760T>CCA450608771MMUTc.684A>G (p.Arg228=)
6g.49457760T>GCA450608772MMUTc.684A>C (p.Arg228=)
6g.49457761C>ACA3847071MMUTc.683G>T (p.Arg228Leu)
dbSNP ExAC gnomAD v2
6g.49457761C=CA1627392096MMUTc.683G= (p.Arg228=)
6g.49457761C>GCA364404118MMUTc.683G>C (p.Arg228Pro)
6g.49457761C>TCA3847070MMUTc.683G>A (p.Arg228Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457762G>ACA312778MMUTc.682C>T (p.Arg228Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457762G>CCA364404123MMUTc.682C>G (p.Arg228Gly)
6g.49457762G=CA1627392097MMUTc.682C= (p.Arg228=)
6g.49457762G>TCA450608773MMUTc.682C>A (p.Arg228=)
6g.49457763A=CA1627392098MMUTc.681T= (p.Val227=)
6g.49457763A>CCA450608774MMUTc.681T>G (p.Val227=)
dbSNP gnomAD v2 gnomAD v4
6g.49457763A>GCA450608776MMUTc.681T>C (p.Val227=)
6g.49457763A>TCA450608775MMUTc.681T>A (p.Val227=)
6g.49457764A>CCA364404127MMUTc.680T>G (p.Val227Gly)
6g.49457764A>GCA364404129MMUTc.680T>C (p.Val227Ala)
6g.49457764A>TCA364404131MMUTc.680T>A (p.Val227Asp)
6g.49457765C>ACA364404135MMUTc.679G>T (p.Val227Phe)
6g.49457765C=CA1627392099MMUTc.679G= (p.Val227=)
6g.49457765C>GCA364404137MMUTc.679G>C (p.Val227Leu)
6g.49457765C>TCA364404139MMUTc.679G>A (p.Val227Ile)
6g.49457766dupCA913110644MMUTc.679dup (p.Val227GlyfsTer18)
6g.49457766C>ACA3847073MMUTc.678G>T (p.Met226Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457766C=CA1627392100MMUTc.678G= (p.Met226=)
6g.49457766C>GCA364404144MMUTc.678G>C (p.Met226Ile)
6g.49457766C>TCA364404142MMUTc.678G>A (p.Met226Ile)
dbSNP gnomAD v3 gnomAD v4
6g.49457767_49457774dupCA3847072MMUTc.671_678dup (p.Val227AsnfsTer16)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457767A>CCA364404148MMUTc.677T>G (p.Met226Arg)
6g.49457767A>GCA364404150MMUTc.677T>C (p.Met226Thr)
6g.49457767A>TCA364404153MMUTc.677T>A (p.Met226Lys)
6g.49457768T>ACA364404156MMUTc.676A>T (p.Met226Leu)
dbSNP
6g.49457768T>CCA3847074MMUTc.676A>G (p.Met226Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457768T>GCA364404161MMUTc.676A>C (p.Met226Leu)
6g.49457768T=CA1627392101MMUTc.676A= (p.Met226=)
6g.49457769A=CA1627392102MMUTc.675T= (p.Phe225=)
6g.49457769A>CCA364404164MMUTc.675T>G (p.Phe225Leu)
6g.49457769A>GCA450608777MMUTc.675T>C (p.Phe225=)
6g.49457769A>TCA364404167MMUTc.675T>A (p.Phe225Leu)
6g.49457771dupCA913110645MMUTc.675dup (p.Met226TyrfsTer19)
6g.49457770A>CCA364404170MMUTc.674T>G (p.Phe225Cys)
6g.49457770A>GCA364404172MMUTc.674T>C (p.Phe225Ser)
6g.49457770A>TCA364404175MMUTc.674T>A (p.Phe225Tyr)
6g.49457770_49457775dupCA658823264MMUTc.669_674dup (p.Glu224_Phe225insLeuGlu)
ClinVar dbSNP
6g.49457771A>CCA364404176MMUTc.673T>G (p.Phe225Val)
6g.49457771A>GCA364404177MMUTc.673T>C (p.Phe225Leu)
6g.49457771A>TCA364404178MMUTc.673T>A (p.Phe225Ile)
6g.49457772T>ACA364404181MMUTc.672A>T (p.Glu224Asp)
6g.49457772T>CCA450608778MMUTc.672A>G (p.Glu224=)
6g.49457772T>GCA364404180MMUTc.672A>C (p.Glu224Asp)
6g.49457773T>ACA364404184MMUTc.671A>T (p.Glu224Val)
6g.49457773T>CCA364404187MMUTc.671A>G (p.Glu224Gly)
6g.49457773T>GCA364404201MMUTc.671A>C (p.Glu224Ala)
COSMIC
6g.49457774C>ACA364404204MMUTc.670G>T (p.Glu224Ter)
ClinVar dbSNP gnomAD v4
6g.49457774C=CA1627392103MMUTc.670G= (p.Glu224=)
6g.49457774C>GCA364404207MMUTc.670G>C (p.Glu224Gln)
6g.49457774C>TCA364404209MMUTc.670G>A (p.Glu224Lys)
ClinVar dbSNP gnomAD v4
6g.49457775C>ACA364404216MMUTc.669G>T (p.Lys223Asn)
6g.49457775C>GCA364404212MMUTc.669G>C (p.Lys223Asn)
6g.49457775C>TCA450608779MMUTc.669G>A (p.Lys223=)
ClinVar gnomAD v4
6g.49457776T>ACA364404219MMUTc.668A>T (p.Lys223Met)
6g.49457776T>CCA364404220MMUTc.668A>G (p.Lys223Arg)
6g.49457776T>GCA364404221MMUTc.668A>C (p.Lys223Thr)
6g.49457777T>ACA364404224MMUTc.667A>T (p.Lys223Ter)
6g.49457777T>CCA364404226MMUTc.667A>G (p.Lys223Glu)
6g.49457777T>GCA364404229MMUTc.667A>C (p.Lys223Gln)
6g.49457778T>ACA450608782MMUTc.666A>T (p.Leu222=)
6g.49457778T>CCA450608781MMUTc.666A>G (p.Leu222=)
6g.49457778T>GCA450608780MMUTc.666A>C (p.Leu222=)
6g.49457779A>CCA364404231MMUTc.665T>G (p.Leu222Arg)
6g.49457779A>GCA364404235MMUTc.665T>C (p.Leu222Pro)
6g.49457779A>TCA364404233MMUTc.665T>A (p.Leu222Gln)
6g.49457780G>ACA450608783MMUTc.664C>T (p.Leu222=)
gnomAD v4
6g.49457780G>CCA364404237MMUTc.664C>G (p.Leu222Val)
6g.49457780G>TCA364404239MMUTc.664C>A (p.Leu222Ile)
6g.49457781T>ACA450608784MMUTc.663A>T (p.Ile221=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49457781T>CCA364404241MMUTc.663A>G (p.Ile221Met)
6g.49457781T>GCA450608785MMUTc.663A>C (p.Ile221=)
6g.49457781T=CA1627392104MMUTc.663A= (p.Ile221=)
6g.49457782delCA2695206684MMUTc.662del (p.Ile221AsnfsTer2)
6g.49457782A=CA1627392105MMUTc.662T= (p.Ile221=)
6g.49457782A>CCA364404243MMUTc.662T>G (p.Ile221Arg)
6g.49457782A>GCA364404246MMUTc.662T>C (p.Ile221Thr)
dbSNP gnomAD v4
6g.49457782A>TCA364404247MMUTc.662T>A (p.Ile221Lys)
6g.49457783T>ACA364404253MMUTc.661A>T (p.Ile221Leu)
6g.49457783T>CCA364404250MMUTc.661A>G (p.Ile221Val)
6g.49457783T>GCA364404252MMUTc.661A>C (p.Ile221Leu)
6g.49457784A=CA1627392106MMUTc.660T= (p.Asp220=)
6g.49457784A>CCA364404255MMUTc.660T>G (p.Asp220Glu)
6g.49457784A>GCA450608786MMUTc.660T>C (p.Asp220=)
dbSNP gnomAD v2 gnomAD v4
6g.49457784A>TCA364404257MMUTc.660T>A (p.Asp220Glu)
6g.49457785T>ACA364404259MMUTc.659A>T (p.Asp220Val)
6g.49457785T>CCA364404261MMUTc.659A>G (p.Asp220Gly)
6g.49457785T>GCA364404262MMUTc.659A>C (p.Asp220Ala)
6g.49457786C>ACA364404263MMUTc.658G>T (p.Asp220Tyr)
gnomAD v4
6g.49457786C>GCA364404265MMUTc.658G>C (p.Asp220His)
gnomAD v4
6g.49457786C>TCA364404264MMUTc.658G>A (p.Asp220Asn)
6g.49457787A=CA1627392107MMUTc.657T= (p.Asn219=)
6g.49457787A>CCA364404266MMUTc.657T>G (p.Asn219Lys)
6g.49457787A>GCA450608787MMUTc.657T>C (p.Asn219=)
6g.49457787A>TCA364404267MMUTc.657T>A (p.Asn219Lys)
6g.49457788T>ACA364404268MMUTc.656A>T (p.Asn219Ile)
6g.49457788T>CCA138799604MMUTc.656A>G (p.Asn219Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49457788T>GCA364404269MMUTc.656A>C (p.Asn219Thr)
6g.49457788T=CA1627392108MMUTc.656A= (p.Asn219=)
6g.49457791dupCA3847075MMUTc.656dup (p.Asn219LysfsTer2)
dbSNP ExAC gnomAD v2
6g.49457791delCA2499218333MMUTc.656del (p.Asn219MetfsTer4)
ClinVar dbSNP
6g.49457789T>ACA249731MMUTc.655A>T (p.Asn219Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457789T>CCA364404270MMUTc.655A>G (p.Asn219Asp)
6g.49457789T>GCA364404271MMUTc.655A>C (p.Asn219His)
6g.49457789T=CA1627392109MMUTc.655A= (p.Asn219=)
6g.49457790T>ACA364404272MMUTc.654A>T (p.Gln218His)
6g.49457790T>CCA450608788MMUTc.654A>G (p.Gln218=)
6g.49457790T>GCA364404273MMUTc.654A>C (p.Gln218His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49457790T=CA1627395125MMUTc.654A= (p.Gln218=)
6g.49457791T>ACA364404275MMUTc.653A>T (p.Gln218Leu)
6g.49457791T>CCA358798MMUTc.653A>G (p.Gln218Arg)
ClinVar dbSNP
6g.49457791T>GCA364404274MMUTc.653A>C (p.Gln218Pro)
6g.49457791T=CA1627395138MMUTc.653A= (p.Gln218=)
6g.49457792G>ACA3847076MMUTc.652C>T (p.Gln218Ter)
dbSNP ExAC gnomAD v2
6g.49457792G>CCA364404276MMUTc.652C>G (p.Gln218Glu)
ClinVar dbSNP
6g.49457792G=CA1627395151MMUTc.652C= (p.Gln218=)
6g.49457792G>TCA364404277MMUTc.652C>A (p.Gln218Lys)
6g.49457793G>ACA450608789MMUTc.651C>T (p.Ile217=)
dbSNP
6g.49457793G>CCA364404278MMUTc.651C>G (p.Ile217Met)
6g.49457793G=CA1627395162MMUTc.651C= (p.Ile217=)
6g.49457793G>TCA450608790MMUTc.651C>A (p.Ile217=)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.49457794A=CA1627395169MMUTc.650T= (p.Ile217=)
6g.49457794A>CCA364404279MMUTc.650T>G (p.Ile217Ser)
6g.49457794A>GCA364404280MMUTc.650T>C (p.Ile217Thr)
dbSNP gnomAD v2 gnomAD v4
6g.49457794A>TCA364404281MMUTc.650T>A (p.Ile217Asn)
6g.49457795T>ACA364404282MMUTc.649A>T (p.Ile217Phe)
6g.49457795T>CCA364404283MMUTc.649A>G (p.Ile217Val)
6g.49457795T>GCA364404284MMUTc.649A>C (p.Ile217Leu)
6g.49457796G>ACA3847077MMUTc.648C>T (p.Thr216=)
ClinVar dbSNP ExAC gnomAD v2
6g.49457796G>CCA450608791MMUTc.648C>G (p.Thr216=)
6g.49457796G=CA1627395171MMUTc.648C= (p.Thr216=)
6g.49457796G>TCA450608792MMUTc.648C>A (p.Thr216=)
6g.49457797G>ACA364404285MMUTc.647C>T (p.Thr216Ile)
6g.49457797G>CCA364404286MMUTc.647C>G (p.Thr216Ser)
6g.49457797G=CA1627395174MMUTc.647C= (p.Thr216=)
6g.49457797G>TCA364404287MMUTc.647C>A (p.Thr216Asn)
ClinVar dbSNP
6g.49457798T>ACA364404288MMUTc.646A>T (p.Thr216Ser)
6g.49457798T>CCA364404289MMUTc.646A>G (p.Thr216Ala)
6g.49457798T>GCA364404290MMUTc.646A>C (p.Thr216Pro)
6g.49457799A>CCA450608795MMUTc.645T>G (p.Gly215=)
6g.49457799A>GCA450608794MMUTc.645T>C (p.Gly215=)
ClinVar
6g.49457799A>TCA450608793MMUTc.645T>A (p.Gly215=)
6g.49457800C>ACA364404292MMUTc.644G>T (p.Gly215Val)
6g.49457800C=CA1627395179MMUTc.644G= (p.Gly215=)
6g.49457800C>GCA364404291MMUTc.644G>C (p.Gly215Ala)
6g.49457800C>TCA3847078MMUTc.644G>A (p.Gly215Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457801C>ACA16618294MMUTc.643G>T (p.Gly215Cys)
ClinVar dbSNP gnomAD v4
6g.49457801C=CA1627395185MMUTc.643G= (p.Gly215=)
6g.49457801C>GCA364404293MMUTc.643G>C (p.Gly215Arg)
6g.49457801C>TCA249733MMUTc.643G>A (p.Gly215Ser)
ClinVar dbSNP gnomAD v4
6g.49457802A=CA1627395194MMUTc.642T= (p.Thr214=)
6g.49457802A>CCA450608796MMUTc.642T>G (p.Thr214=)
dbSNP gnomAD v3 gnomAD v4
6g.49457802A>GCA450608797MMUTc.642T>C (p.Thr214=)
gnomAD v4
6g.49457802A>TCA450608798MMUTc.642T>A (p.Thr214=)
ClinVar dbSNP
6g.49457803G>ACA364404294MMUTc.641C>T (p.Thr214Ile)
6g.49457803G>CCA364404295MMUTc.641C>G (p.Thr214Ser)
6g.49457803G>TCA364404296MMUTc.641C>A (p.Thr214Asn)
6g.49457804T>ACA364404297MMUTc.640A>T (p.Thr214Ser)
6g.49457804T>CCA138799637MMUTc.640A>G (p.Thr214Ala)
dbSNP
6g.49457804T>GCA364404298MMUTc.640A>C (p.Thr214Pro)
6g.49457804T=CA1627395198MMUTc.640A= (p.Thr214=)
6g.49457805A>CCA450608799MMUTc.639T>G (p.Leu213=)
6g.49457805A>GCA450608801MMUTc.639T>C (p.Leu213=)
6g.49457805A>TCA450608800MMUTc.639T>A (p.Leu213=)
6g.49457806A>CCA364404299MMUTc.638T>G (p.Leu213Arg)
6g.49457806A>GCA364404300MMUTc.638T>C (p.Leu213Pro)
6g.49457806A>TCA364404301MMUTc.638T>A (p.Leu213His)
6g.49457807G>ACA364404302MMUTc.637C>T (p.Leu213Phe)
6g.49457807G>CCA3847079MMUTc.637C>G (p.Leu213Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457807G=CA1627395202MMUTc.637C= (p.Leu213=)
6g.49457807G>TCA364404303MMUTc.637C>A (p.Leu213Ile)
6g.49457808C>ACA364404304MMUTc.636G>T (p.Lys212Asn)
6g.49457808C=CA347880MMUTc.636G= (p.Lys212=)
6g.49457808C>GCA364404305MMUTc.636G>C (p.Lys212Asn)
6g.49457808C>TCA285337MMUTc.636G>A (p.Lys212=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457809T>ACA364404306MMUTc.635A>T (p.Lys212Met)
6g.49457809T>CCA138799653MMUTc.635A>G (p.Lys212Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49457809T>GCA364404307MMUTc.635A>C (p.Lys212Thr)
6g.49457809T=CA1627395214MMUTc.635A= (p.Lys212=)
6g.49457810T>ACA364404308MMUTc.634A>T (p.Lys212Ter)
6g.49457810T>CCA364404309MMUTc.634A>G (p.Lys212Glu)
6g.49457810T>GCA364404310MMUTc.634A>C (p.Lys212Gln)
6g.49457811C>ACA364404311MMUTc.633G>T (p.Glu211Asp)
dbSNP gnomAD v3 gnomAD v4
6g.49457811C=CA1627395219MMUTc.633G= (p.Glu211=)
6g.49457811C>GCA3847080MMUTc.633G>C (p.Glu211Asp)
dbSNP ExAC gnomAD v2
6g.49457811C>TCA450608802MMUTc.633G>A (p.Glu211=)
6g.49457811_49457813delCA913187321MMUTc.631_633del (p.Glu211del)
6g.49457812T>ACA364404312MMUTc.632A>T (p.Glu211Val)
6g.49457812T>CCA3847081MMUTc.632A>G (p.Glu211Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457812T>GCA364404313MMUTc.632A>C (p.Glu211Ala)
6g.49457812T=CA1627395222MMUTc.632A= (p.Glu211=)
6g.49457813C>ACA364404315MMUTc.631G>T (p.Glu211Ter)
6g.49457813C>GCA364404316MMUTc.631G>C (p.Glu211Gln)
6g.49457813C>TCA364404314MMUTc.631G>A (p.Glu211Lys)
6g.49457813_49457814delinsCTCA1627395226MMUTc.630_631delinsAG (p.Lys210=)
6g.49457814T>ACA364404317MMUTc.630A>T (p.Lys210Asn)
6g.49457814T>CCA450608803MMUTc.630A>G (p.Lys210=)
6g.49457814T>GCA364404318MMUTc.630A>C (p.Lys210Asn)
6g.49457816delCA10575879MMUTc.630del (p.Glu211ArgfsTer12)
ClinVar dbSNP gnomAD v4
6g.49457815T>ACA364404319MMUTc.629A>T (p.Lys210Ile)
6g.49457815T>CCA364404320MMUTc.629A>G (p.Lys210Arg)
6g.49457815T>GCA364404321MMUTc.629A>C (p.Lys210Thr)
6g.49457816T>ACA364404322MMUTc.628A>T (p.Lys210Ter)
6g.49457816T>CCA138799678MMUTc.628A>G (p.Lys210Glu)
dbSNP gnomAD v3 gnomAD v4
6g.49457816T>GCA364404323MMUTc.628A>C (p.Lys210Gln)
6g.49457816T=CA1627395235MMUTc.628A= (p.Lys210=)
6g.49457817A=CA1627395239MMUTc.627T= (p.Pro209=)
6g.49457817A>CCA3847082MMUTc.627T>G (p.Pro209=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457817A>GCA450608804MMUTc.627T>C (p.Pro209=)
ClinVar
6g.49457817A>TCA450608805MMUTc.627T>A (p.Pro209=)
6g.49457818G>ACA364404324MMUTc.626C>T (p.Pro209Leu)
6g.49457818G>CCA364404325MMUTc.626C>G (p.Pro209Arg)
6g.49457818G>TCA364404326MMUTc.626C>A (p.Pro209His)
6g.49457819dupCA825482501MMUTc.626dup (p.Lys210Ter)
ClinVar dbSNP
6g.49457819G>ACA3847083MMUTc.625C>T (p.Pro209Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.49457819G>CCA364404328MMUTc.625C>G (p.Pro209Ala)
6g.49457819G=CA1627395242MMUTc.625C= (p.Pro209=)
6g.49457819G>TCA364404327MMUTc.625C>A (p.Pro209Thr)
6g.49457820T>ACA450608806MMUTc.624A>T (p.Val208=)
6g.49457820T>CCA450608807MMUTc.624A>G (p.Val208=)
gnomAD v4
6g.49457820T>GCA450608808MMUTc.624A>C (p.Val208=)
6g.49457820_49457821delCA2578675208MMUTc.623_624del (p.Val208AlafsTer2)
gnomAD v4
6g.49457821A>CCA364404329MMUTc.623T>G (p.Val208Gly)
6g.49457821A>GCA364404331MMUTc.623T>C (p.Val208Ala)
COSMIC
6g.49457821A>TCA364404330MMUTc.623T>A (p.Val208Glu)
6g.49457821_49457822delinsACCA1627395246MMUTc.622_623delinsGT (p.Val208=)
6g.49457822delCA915944263MMUTc.622del (p.Val208TyrfsTer15)
ClinVar dbSNP gnomAD v4
6g.49457822C>ACA364404332MMUTc.622G>T (p.Val208Leu)
dbSNP gnomAD v2 gnomAD v4
6g.49457822C=CA1627395253MMUTc.622G= (p.Val208=)
6g.49457822C>GCA364404333MMUTc.622G>C (p.Val208Leu)
6g.49457822C>TCA364404334MMUTc.622G>A (p.Val208Ile)
6g.49457823A>CCA450608809MMUTc.621T>G (p.Gly207=)
ClinVar dbSNP
6g.49457823A>GCA450608810MMUTc.621T>C (p.Gly207=)
6g.49457823A>TCA450608811MMUTc.621T>A (p.Gly207=)
6g.49457824C>ACA3847084MMUTc.620G>T (p.Gly207Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457824C=CA1627395256MMUTc.620G= (p.Gly207=)
6g.49457824C>GCA364404335MMUTc.620G>C (p.Gly207Ala)
6g.49457824C>TCA364404336MMUTc.620G>A (p.Gly207Asp)
gnomAD v4
6g.49457825C>ACA364404337MMUTc.619G>T (p.Gly207Cys)
6g.49457825C=CA1627395257MMUTc.619G= (p.Gly207=)
6g.49457825C>GCA3847085MMUTc.619G>C (p.Gly207Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457825C>TCA364404338MMUTc.619G>A (p.Gly207Ser)
gnomAD v4
6g.49457826T>ACA364404339MMUTc.618A>T (p.Gln206His)
6g.49457826T>CCA450608812MMUTc.618A>G (p.Gln206=)
6g.49457826T>GCA364404340MMUTc.618A>C (p.Gln206His)
6g.49457827T>ACA364404343MMUTc.617A>T (p.Gln206Leu)
6g.49457827T>CCA364404342MMUTc.617A>G (p.Gln206Arg)
6g.49457827T>GCA364404341MMUTc.617A>C (p.Gln206Pro)
6g.49457828G>ACA364404344MMUTc.616C>T (p.Gln206Ter)
6g.49457828G>CCA364404345MMUTc.616C>G (p.Gln206Glu)
6g.49457828G>TCA364404346MMUTc.616C>A (p.Gln206Lys)
6g.49457828_49457831delinsGTTCCA1627395258MMUTc.613_616delinsGAAC (p.Glu205=)
6g.49457829T>ACA364404347MMUTc.615A>T (p.Glu205Asp)
6g.49457829T>CCA3847086MMUTc.615A>G (p.Glu205=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.49457829T>GCA364404348MMUTc.615A>C (p.Glu205Asp)
6g.49457829T=CA1627395263MMUTc.615A= (p.Glu205=)
6g.49457833_49457835delCA10575880MMUTc.613_615del (p.Glu205del)
ClinVar dbSNP
6g.49457830T>ACA364404349MMUTc.614A>T (p.Glu205Val)
6g.49457830T>CCA364404350MMUTc.614A>G (p.Glu205Gly)
6g.49457830T>GCA364404351MMUTc.614A>C (p.Glu205Ala)
6g.49457831C>ACA364404352MMUTc.613G>T (p.Glu205Ter)
COSMIC
6g.49457831C>GCA364404353MMUTc.613G>C (p.Glu205Gln)
6g.49457831C>TCA364404354MMUTc.613G>A (p.Glu205Lys)
ClinVar gnomAD v4
6g.49457832T>ACA364404355MMUTc.612A>T (p.Glu204Asp)
6g.49457832T>CCA450608813MMUTc.612A>G (p.Glu204=)
6g.49457832T>GCA364404356MMUTc.612A>C (p.Glu204Asp)
6g.49457833T>ACA364404357MMUTc.611A>T (p.Glu204Val)
6g.49457833T>CCA364404358MMUTc.611A>G (p.Glu204Gly)
6g.49457833T>GCA364404359MMUTc.611A>C (p.Glu204Ala)
6g.49457834C>ACA364404360MMUTc.610G>T (p.Glu204Ter)
gnomAD v4
6g.49457834C=CA1627395264MMUTc.610G= (p.Glu204=)
6g.49457834C>GCA364404361MMUTc.610G>C (p.Glu204Gln)
6g.49457834C>TCA364404362MMUTc.610G>A (p.Glu204Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.49457835T>ACA450608816MMUTc.609A>T (p.Gly203=)
6g.49457835T>CCA450608814MMUTc.609A>G (p.Gly203=)
dbSNP
6g.49457835T>GCA450608815MMUTc.609A>C (p.Gly203=)
6g.49457835T=CA1627395265MMUTc.609A= (p.Gly203=)
6g.49457836C>ACA364404363MMUTc.608G>T (p.Gly203Val)
6g.49457836C>GCA364404364MMUTc.608G>C (p.Gly203Ala)
6g.49457836C>TCA364404365MMUTc.608G>A (p.Gly203Glu)

Number of alleles fetched