Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.80171283T>A | CA364658474 | BCKDHB | c.635T>A (p.Val212Glu) c.425T>A (p.Val142Glu) n.813T>A n.665T>A n.752T>A | gnomAD v4 |
6 | g.80171283T>C | CA364658475 | BCKDHB | c.635T>C (p.Val212Ala) c.425T>C (p.Val142Ala) n.813T>C n.665T>C n.752T>C | gnomAD v4 |
6 | g.80171283T>G | CA364658476 | BCKDHB | c.635T>G (p.Val212Gly) c.425T>G (p.Val142Gly) n.813T>G n.665T>G n.752T>G | |
6 | g.80171284G>A | CA142284281 | BCKDHB | c.636G>A (p.Val212=) c.426G>A (p.Val142=) n.814G>A n.666G>A n.753G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171284G>C | CA451072895 | BCKDHB | c.636G>C (p.Val212=) c.426G>C (p.Val142=) n.814G>C n.666G>C n.753G>C | |
6 | g.80171284G= | CA1640938871 | BCKDHB | c.636G= (p.Val212=) c.426G= (p.Val142=) n.814G= n.666G= n.753G= | |
6 | g.80171284G>T | CA451072896 | BCKDHB | c.636G>T (p.Val212=) c.426G>T (p.Val142=) n.814G>T n.666G>T n.753G>T | gnomAD v4 |
6 | g.80171285G>A | CA142284282 | BCKDHB | c.637G>A (p.Val213Ile) c.427G>A (p.Val143Ile) n.815G>A n.667G>A n.754G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171285G>C | CA364658477 | BCKDHB | c.637G>C (p.Val213Leu) c.427G>C (p.Val143Leu) n.815G>C n.667G>C n.754G>C | |
6 | g.80171285G= | CA1640938872 | BCKDHB | c.637G= (p.Val213=) c.427G= (p.Val143=) n.815G= n.667G= n.754G= | |
6 | g.80171285G>T | CA16604994 | BCKDHB | c.637G>T (p.Val213Phe) c.427G>T (p.Val143Phe) n.815G>T n.667G>T n.754G>T | ClinVar dbSNP gnomAD v4 |
6 | g.80171286T>A | CA364658478 | BCKDHB | c.638T>A (p.Val213Asp) c.428T>A (p.Val143Asp) n.816T>A n.668T>A n.755T>A | |
6 | g.80171286T>C | CA364658479 | BCKDHB | c.638T>C (p.Val213Ala) c.428T>C (p.Val143Ala) n.816T>C n.668T>C n.755T>C | |
6 | g.80171286T>G | CA364658480 | BCKDHB | c.638T>G (p.Val213Gly) c.428T>G (p.Val143Gly) n.816T>G n.668T>G n.755T>G | |
6 | g.80171287T>A | CA451072899 | BCKDHB | c.639T>A (p.Val213=) c.429T>A (p.Val143=) n.817T>A n.669T>A n.756T>A | |
6 | g.80171287T>C | CA451072898 | BCKDHB | c.639T>C (p.Val213=) c.429T>C (p.Val143=) n.817T>C n.669T>C n.756T>C | |
6 | g.80171287T>G | CA451072897 | BCKDHB | c.639T>G (p.Val213=) c.429T>G (p.Val143=) n.817T>G n.669T>G n.756T>G | |
6 | g.80171288A>C | CA364658483 | BCKDHB | c.640A>C (p.Ile214Leu) c.430A>C (p.Ile144Leu) n.818A>C n.670A>C n.757A>C | |
6 | g.80171288A>G | CA364658482 | BCKDHB | c.640A>G (p.Ile214Val) c.430A>G (p.Ile144Val) n.818A>G n.670A>G n.757A>G | gnomAD v4 |
6 | g.80171288A>T | CA364658481 | BCKDHB | c.640A>T (p.Ile214Leu) c.430A>T (p.Ile144Leu) n.818A>T n.670A>T n.757A>T | |
6 | g.80171289T>A | CA312368 | BCKDHB | c.641T>A (p.Ile214Lys) c.431T>A (p.Ile144Lys) n.819T>A n.671T>A n.758T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171289T>C | CA364658484 | BCKDHB | c.641T>C (p.Ile214Thr) c.431T>C (p.Ile144Thr) n.819T>C n.671T>C n.758T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171289T>G | CA364658485 | BCKDHB | c.641T>G (p.Ile214Arg) c.431T>G (p.Ile144Arg) n.819T>G n.671T>G n.758T>G | |
6 | g.80171289T= | CA1640938873 | BCKDHB | c.641T= (p.Ile214=) c.431T= (p.Ile144=) n.819T= n.671T= n.758T= | |
6 | g.80171290A>C | CA451072900 | BCKDHB | c.642A>C (p.Ile214=) c.432A>C (p.Ile144=) n.820A>C n.672A>C n.759A>C | |
6 | g.80171290A>G | CA364658486 | BCKDHB | c.642A>G (p.Ile214Met) c.432A>G (p.Ile144Met) n.820A>G n.672A>G n.759A>G | gnomAD v4 |
6 | g.80171290A>T | CA451072901 | BCKDHB | c.642A>T (p.Ile214=) c.432A>T (p.Ile144=) n.820A>T n.672A>T n.759A>T | |
6 | g.80171291C>A | CA364658487 | BCKDHB | c.643C>A (p.Pro215Thr) c.433C>A (p.Pro145Thr) n.821C>A n.673C>A n.760C>A | |
6 | g.80171291C>G | CA364658488 | BCKDHB | c.643C>G (p.Pro215Ala) c.433C>G (p.Pro145Ala) n.821C>G n.673C>G n.760C>G | |
6 | g.80171291C>T | CA364658489 | BCKDHB | c.643C>T (p.Pro215Ser) c.433C>T (p.Pro145Ser) n.821C>T n.673C>T n.760C>T | gnomAD v4 |
6 | g.80171292C>A | CA364658490 | BCKDHB | c.644C>A (p.Pro215His) c.434C>A (p.Pro145His) n.822C>A n.674C>A n.761C>A | |
6 | g.80171292C>G | CA364658491 | BCKDHB | c.644C>G (p.Pro215Arg) c.434C>G (p.Pro145Arg) n.822C>G n.674C>G n.761C>G | |
6 | g.80171292C>T | CA364658492 | BCKDHB | c.644C>T (p.Pro215Leu) c.434C>T (p.Pro145Leu) n.822C>T n.674C>T n.761C>T | |
6 | g.80171293C>A | CA451072902 | BCKDHB | c.645C>A (p.Pro215=) c.435C>A (p.Pro145=) n.823C>A n.675C>A n.762C>A | |
6 | g.80171293C= | CA1640938874 | BCKDHB | c.645C= (p.Pro215=) c.435C= (p.Pro145=) n.823C= n.675C= n.762C= | |
6 | g.80171293C>G | CA451072903 | BCKDHB | c.645C>G (p.Pro215=) c.435C>G (p.Pro145=) n.823C>G n.675C>G n.762C>G | |
6 | g.80171293C>T | CA142284283 | BCKDHB | c.645C>T (p.Pro215=) c.435C>T (p.Pro145=) n.823C>T n.675C>T n.762C>T | ClinVar dbSNP |
6 | g.80171294A>C | CA451072904 | BCKDHB | c.646A>C (p.Arg216=) c.436A>C (p.Arg146=) n.824A>C n.676A>C n.763A>C | |
6 | g.80171294A>G | CA364658493 | BCKDHB | c.646A>G (p.Arg216Gly) c.436A>G (p.Arg146Gly) n.824A>G n.676A>G n.763A>G | ClinVar |
6 | g.80171294A>T | CA364658494 | BCKDHB | c.646A>T (p.Arg216Ter) c.436A>T (p.Arg146Ter) n.824A>T n.676A>T n.763A>T | |
6 | g.80171295G>A | CA364658495 | BCKDHB | c.647G>A (p.Arg216Lys) c.437G>A (p.Arg146Lys) n.825G>A n.677G>A n.764G>A | |
6 | g.80171295G>C | CA364658497 | BCKDHB | c.647G>C (p.Arg216Thr) c.437G>C (p.Arg146Thr) n.825G>C n.677G>C n.764G>C | |
6 | g.80171295G>T | CA364658496 | BCKDHB | c.647G>T (p.Arg216Ile) c.437G>T (p.Arg146Ile) n.825G>T n.677G>T n.764G>T | |
6 | g.80171296A>C | CA364658498 | BCKDHB | c.648A>C (p.Arg216Ser) c.438A>C (p.Arg146Ser) n.826A>C n.678A>C n.765A>C | |
6 | g.80171296A>G | CA451072905 | BCKDHB | c.648A>G (p.Arg216=) c.438A>G (p.Arg146=) n.826A>G n.678A>G n.765A>G | gnomAD v4 |
6 | g.80171296A>T | CA364658499 | BCKDHB | c.648A>T (p.Arg216Ser) c.438A>T (p.Arg146Ser) n.826A>T n.678A>T n.765A>T | |
6 | g.80171297A>C | CA364658500 | BCKDHB | c.649A>C (p.Ser217Arg) c.439A>C (p.Ser147Arg) n.827A>C n.679A>C n.766A>C | gnomAD v4 |
6 | g.80171297A>G | CA364658503 | BCKDHB | c.649A>G (p.Ser217Gly) c.439A>G (p.Ser147Gly) n.827A>G n.679A>G n.766A>G | |
6 | g.80171297A>T | CA364658501 | BCKDHB | c.649A>T (p.Ser217Cys) c.439A>T (p.Ser147Cys) n.827A>T n.679A>T n.766A>T | |
6 | g.80171298G>A | CA364658506 | BCKDHB | c.650G>A (p.Ser217Asn) c.440G>A (p.Ser147Asn) n.828G>A n.680G>A n.767G>A | gnomAD v4 |
6 | g.80171298G>C | CA364658508 | BCKDHB | c.650G>C (p.Ser217Thr) c.440G>C (p.Ser147Thr) n.828G>C n.680G>C n.767G>C | |
6 | g.80171298G= | CA1640938875 | BCKDHB | c.650G= (p.Ser217=) c.440G= (p.Ser147=) n.828G= n.680G= n.767G= | |
6 | g.80171298G>T | CA3902708 | BCKDHB | c.650G>T (p.Ser217Ile) c.440G>T (p.Ser147Ile) n.828G>T n.680G>T n.767G>T | dbSNP ExAC gnomAD v2 |
6 | g.80171299C>A | CA364658511 | BCKDHB | c.651C>A (p.Ser217Arg) c.441C>A (p.Ser147Arg) n.829C>A n.681C>A n.768C>A | gnomAD v4 |
6 | g.80171299C= | CA1640938876 | BCKDHB | c.651C= (p.Ser217=) c.441C= (p.Ser147=) n.829C= n.681C= n.768C= | |
6 | g.80171299C>G | CA364658514 | BCKDHB | c.651C>G (p.Ser217Arg) c.441C>G (p.Ser147Arg) n.829C>G n.681C>G n.768C>G | |
6 | g.80171299C>T | CA451072906 | BCKDHB | c.651C>T (p.Ser217=) c.441C>T (p.Ser147=) n.829C>T n.681C>T n.768C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171300C>A | CA364658517 | BCKDHB | c.652C>A (p.Pro218Thr) c.442C>A (p.Pro148Thr) n.830C>A n.682C>A n.769C>A | |
6 | g.80171300C>G | CA364658519 | BCKDHB | c.652C>G (p.Pro218Ala) c.442C>G (p.Pro148Ala) n.830C>G n.682C>G n.769C>G | |
6 | g.80171300C>T | CA364658522 | BCKDHB | c.652C>T (p.Pro218Ser) c.442C>T (p.Pro148Ser) n.830C>T n.682C>T n.769C>T | |
6 | g.80171301C>A | CA364658525 | BCKDHB | c.653C>A (p.Pro218His) c.443C>A (p.Pro148His) n.831C>A n.683C>A n.770C>A | |
6 | g.80171301C>G | CA364658527 | BCKDHB | c.653C>G (p.Pro218Arg) c.443C>G (p.Pro148Arg) n.831C>G n.683C>G n.770C>G | |
6 | g.80171301C>T | CA364658529 | BCKDHB | c.653C>T (p.Pro218Leu) c.443C>T (p.Pro148Leu) n.831C>T n.683C>T n.770C>T | |
6 | g.80171302T>A | CA451072907 | BCKDHB | c.654T>A (p.Pro218=) c.444T>A (p.Pro148=) n.832T>A n.684T>A n.771T>A | |
6 | g.80171302T>C | CA451072908 | BCKDHB | c.654T>C (p.Pro218=) c.444T>C (p.Pro148=) n.832T>C n.684T>C n.771T>C | dbSNP |
6 | g.80171302T>G | CA451072909 | BCKDHB | c.654T>G (p.Pro218=) c.444T>G (p.Pro148=) n.832T>G n.684T>G n.771T>G | |
6 | g.80171302T= | CA1640938877 | BCKDHB | c.654T= (p.Pro218=) c.444T= (p.Pro148=) n.832T= n.684T= n.771T= | |
6 | g.80171303T>A | CA364658536 | BCKDHB | c.655T>A (p.Phe219Ile) c.445T>A (p.Phe149Ile) n.833T>A n.685T>A n.772T>A | |
6 | g.80171303T>C | CA364658532 | BCKDHB | c.655T>C (p.Phe219Leu) c.445T>C (p.Phe149Leu) n.833T>C n.685T>C n.772T>C | gnomAD v4 |
6 | g.80171303T>G | CA364658534 | BCKDHB | c.655T>G (p.Phe219Val) c.445T>G (p.Phe149Val) n.833T>G n.685T>G n.772T>G | |
6 | g.80171304T>A | CA364658538 | BCKDHB | c.656T>A (p.Phe219Tyr) c.446T>A (p.Phe149Tyr) n.834T>A n.686T>A n.773T>A | |
6 | g.80171304T>C | CA364658540 | BCKDHB | c.656T>C (p.Phe219Ser) c.446T>C (p.Phe149Ser) n.834T>C n.686T>C n.773T>C | gnomAD v4 |
6 | g.80171304T>G | CA364658542 | BCKDHB | c.656T>G (p.Phe219Cys) c.446T>G (p.Phe149Cys) n.834T>G n.686T>G n.773T>G | gnomAD v4 |
6 | g.80171305C>A | CA364658544 | BCKDHB | c.657C>A (p.Phe219Leu) c.447C>A (p.Phe149Leu) n.835C>A n.687C>A n.774C>A | |
6 | g.80171305C>G | CA364658546 | BCKDHB | c.657C>G (p.Phe219Leu) c.447C>G (p.Phe149Leu) n.835C>G n.687C>G n.774C>G | |
6 | g.80171305C>T | CA451072910 | BCKDHB | c.657C>T (p.Phe219=) c.447C>T (p.Phe149=) n.835C>T n.687C>T n.774C>T | ClinVar dbSNP |
6 | g.80171305_80171307del | CA2771864367 | BCKDHB | c.657_659del (p.Phe219_Gln220delinsLeu) c.447_449del (p.Phe149_Gln150delinsLeu) n.835_837del n.687_689del n.774_776del | |
6 | g.80171306C>A | CA364658548 | BCKDHB | c.658C>A (p.Gln220Lys) c.448C>A (p.Gln150Lys) n.836C>A n.688C>A n.775C>A | |
6 | g.80171306C= | CA1640938878 | BCKDHB | c.658C= (p.Gln220=) c.448C= (p.Gln150=) n.836C= n.688C= n.775C= | |
6 | g.80171306C>G | CA364658551 | BCKDHB | c.658C>G (p.Gln220Glu) c.448C>G (p.Gln150Glu) n.836C>G n.688C>G n.775C>G | |
6 | g.80171306C>T | CA364658553 | BCKDHB | c.658C>T (p.Gln220Ter) c.448C>T (p.Gln150Ter) n.836C>T n.688C>T n.775C>T | ClinVar dbSNP gnomAD v4 |
6 | g.80171307del | CA658820635 | BCKDHB | c.659del (p.Gln220ArgfsTer10) c.449del (p.Gln150ArgfsTer10) n.837del n.689del n.776del | |
6 | g.80171307A>C | CA364658556 | BCKDHB | c.659A>C (p.Gln220Pro) c.449A>C (p.Gln150Pro) n.837A>C n.689A>C n.776A>C | |
6 | g.80171307A>G | CA364658558 | BCKDHB | c.659A>G (p.Gln220Arg) c.449A>G (p.Gln150Arg) n.837A>G n.689A>G n.776A>G | gnomAD v4 |
6 | g.80171307A>T | CA364658560 | BCKDHB | c.659A>T (p.Gln220Leu) c.449A>T (p.Gln150Leu) n.837A>T n.689A>T n.776A>T | |
6 | g.80171308G>A | CA451072911 | BCKDHB | c.660G>A (p.Gln220=) c.450G>A (p.Gln150=) n.838G>A n.690G>A n.777G>A | |
6 | g.80171308G>C | CA364658565 | BCKDHB | c.660G>C (p.Gln220His) c.450G>C (p.Gln150His) n.838G>C n.690G>C n.777G>C | |
6 | g.80171308G>T | CA364658563 | BCKDHB | c.660G>T (p.Gln220His) c.450G>T (p.Gln150His) n.838G>T n.690G>T n.777G>T | |
6 | g.80171309del | CA10590133 | BCKDHB | c.661del (p.Ala221ProfsTer9) c.451del (p.Ala151ProfsTer9) n.839del n.691del n.778del | |
6 | g.80171309G>A | CA364658568 | BCKDHB | c.661G>A (p.Ala221Thr) c.451G>A (p.Ala151Thr) n.839G>A n.691G>A n.778G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171309G>C | CA364658570 | BCKDHB | c.661G>C (p.Ala221Pro) c.451G>C (p.Ala151Pro) n.839G>C n.691G>C n.778G>C | |
6 | g.80171309G= | CA1640938879 | BCKDHB | c.661G= (p.Ala221=) c.451G= (p.Ala151=) n.839G= n.691G= n.778G= | |
6 | g.80171309G>T | CA364658573 | BCKDHB | c.661G>T (p.Ala221Ser) c.451G>T (p.Ala151Ser) n.839G>T n.691G>T n.778G>T | |
6 | g.80171310C>A | CA3902709 | BCKDHB | c.662C>A (p.Ala221Asp) c.452C>A (p.Ala151Asp) n.840C>A n.692C>A n.779C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171310C= | CA1640938880 | BCKDHB | c.662C= (p.Ala221=) c.452C= (p.Ala151=) n.840C= n.692C= n.779C= | |
6 | g.80171310C>G | CA364658577 | BCKDHB | c.662C>G (p.Ala221Gly) c.452C>G (p.Ala151Gly) n.840C>G n.692C>G n.779C>G | |
6 | g.80171310C>T | CA364658579 | BCKDHB | c.662C>T (p.Ala221Val) c.452C>T (p.Ala151Val) n.840C>T n.692C>T n.779C>T | gnomAD v4 |
6 | g.80171310_80171311del | CA2580075915 | BCKDHB | c.662_663del (p.Ala221GlufsTer11) c.452_453del (p.Ala151GlufsTer11) n.840_841del n.692_693del n.779_780del | ClinVar |
6 | g.80171311C>A | CA451072912 | BCKDHB | c.663C>A (p.Ala221=) c.453C>A (p.Ala151=) n.841C>A n.693C>A n.780C>A | |
6 | g.80171311C>G | CA451072913 | BCKDHB | c.663C>G (p.Ala221=) c.453C>G (p.Ala151=) n.841C>G n.693C>G n.780C>G | |
6 | g.80171311C>T | CA451072914 | BCKDHB | c.663C>T (p.Ala221=) c.453C>T (p.Ala151=) n.841C>T n.693C>T n.780C>T | |
6 | g.80171311_80171312insTGG | CA2771864368 | BCKDHB | c.663_664insTGG (p.Ala221_Lys222insTrp) c.453_454insTGG (p.Ala151_Lys152insTrp) n.841_842insTGG n.693_694insTGG n.780_781insTGG | |
6 | g.80171312A>C | CA364658587 | BCKDHB | c.664A>C (p.Lys222Gln) c.454A>C (p.Lys152Gln) n.842A>C n.694A>C n.781A>C | |
6 | g.80171312A>G | CA364658583 | BCKDHB | c.664A>G (p.Lys222Glu) c.454A>G (p.Lys152Glu) n.842A>G n.694A>G n.781A>G | |
6 | g.80171312A>T | CA364658585 | BCKDHB | c.664A>T (p.Lys222Ter) c.454A>T (p.Lys152Ter) n.842A>T n.694A>T n.781A>T | |
6 | g.80171313A= | CA1640938881 | BCKDHB | c.665A= (p.Lys222=) c.455A= (p.Lys152=) n.843A= n.695A= n.782A= | |
6 | g.80171313A>C | CA364658589 | BCKDHB | c.665A>C (p.Lys222Thr) c.455A>C (p.Lys152Thr) n.843A>C n.695A>C n.782A>C | |
6 | g.80171313A>G | CA364658592 | BCKDHB | c.665A>G (p.Lys222Arg) c.455A>G (p.Lys152Arg) n.843A>G n.695A>G n.782A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171313A>T | CA3902710 | BCKDHB | c.665A>T (p.Lys222Ile) c.455A>T (p.Lys152Ile) n.843A>T n.695A>T n.782A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80171314A>C | CA364658594 | BCKDHB | c.666A>C (p.Lys222Asn) c.456A>C (p.Lys152Asn) n.844A>C n.696A>C n.783A>C | |
6 | g.80171314A>G | CA451072915 | BCKDHB | c.666A>G (p.Lys222=) c.456A>G (p.Lys152=) n.844A>G n.696A>G n.783A>G | gnomAD v4 |
6 | g.80171314A>T | CA364658596 | BCKDHB | c.666A>T (p.Lys222Asn) c.456A>T (p.Lys152Asn) n.844A>T n.696A>T n.783A>T | |
6 | g.80171315G>A | CA364658599 | BCKDHB | c.667G>A (p.Gly223Arg) c.457G>A (p.Gly153Arg) n.845G>A n.697G>A n.784G>A | dbSNP |
6 | g.80171315G>C | CA364658604 | BCKDHB | c.667G>C (p.Gly223Arg) c.457G>C (p.Gly153Arg) n.845G>C n.697G>C n.784G>C | |
6 | g.80171315G= | CA1640938882 | BCKDHB | c.667G= (p.Gly223=) c.457G= (p.Gly153=) n.845G= n.697G= n.784G= | |
6 | g.80171315G>T | CA364658601 | BCKDHB | c.667G>T (p.Gly223Ter) c.457G>T (p.Gly153Ter) n.845G>T n.697G>T n.784G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.80171316G>A | CA364658607 | BCKDHB | c.668G>A (p.Gly223Glu) c.458G>A (p.Gly153Glu) n.846G>A n.698G>A n.785G>A | |
6 | g.80171316G>C | CA364658609 | BCKDHB | c.668G>C (p.Gly223Ala) c.458G>C (p.Gly153Ala) n.846G>C n.698G>C n.785G>C | |
6 | g.80171316G>T | CA364658611 | BCKDHB | c.668G>T (p.Gly223Val) c.458G>T (p.Gly153Val) n.846G>T n.698G>T n.785G>T | gnomAD v4 |
6 | g.80171317A>C | CA451072916 | BCKDHB | c.669A>C (p.Gly223=) c.459A>C (p.Gly153=) n.847A>C n.699A>C n.786A>C | |
6 | g.80171317A>G | CA451072918 | BCKDHB | c.669A>G (p.Gly223=) c.459A>G (p.Gly153=) n.847A>G n.699A>G n.786A>G | |
6 | g.80171317A>T | CA451072917 | BCKDHB | c.669A>T (p.Gly223=) c.459A>T (p.Gly153=) n.847A>T n.699A>T n.786A>T | |
6 | g.80171317_80171320delinsACTT | CA1640938883 | BCKDHB | c.669_672delinsACTT (p.Gly223=) c.459_462delinsACTT (p.Gly153=) n.847_850delinsACTT n.699_702delinsACTT n.786_789delinsACTT | |
6 | g.80171318C>A | CA364658614 | BCKDHB | c.670C>A (p.Leu224Ile) c.460C>A (p.Leu154Ile) n.848C>A n.700C>A n.787C>A | |
6 | g.80171318C>G | CA364658616 | BCKDHB | c.670C>G (p.Leu224Val) c.460C>G (p.Leu154Val) n.848C>G n.700C>G n.787C>G | |
6 | g.80171318C>T | CA364658618 | BCKDHB | c.670C>T (p.Leu224Phe) c.460C>T (p.Leu154Phe) n.848C>T n.700C>T n.787C>T | |
6 | g.80171321_80171323del | CA828549626 | BCKDHB | c.673_675del (p.Leu225del) c.463_465del (p.Leu155del) n.851_853del n.703_705del n.790_792del | dbSNP gnomAD v4 |
6 | g.80171319T>A | CA364658622 | BCKDHB | c.671T>A (p.Leu224His) c.461T>A (p.Leu154His) n.849T>A n.701T>A n.788T>A | |
6 | g.80171319T>C | CA364658623 | BCKDHB | c.671T>C (p.Leu224Pro) c.461T>C (p.Leu154Pro) n.849T>C n.701T>C n.788T>C | |
6 | g.80171319T>G | CA364658626 | BCKDHB | c.671T>G (p.Leu224Arg) c.461T>G (p.Leu154Arg) n.849T>G n.701T>G n.788T>G | |
6 | g.80171320T>A | CA451072919 | BCKDHB | c.672T>A (p.Leu224=) c.462T>A (p.Leu154=) n.850T>A n.702T>A n.789T>A | |
6 | g.80171320T>C | CA451072921 | BCKDHB | c.672T>C (p.Leu224=) c.462T>C (p.Leu154=) n.850T>C n.702T>C n.789T>C | |
6 | g.80171320T>G | CA451072920 | BCKDHB | c.672T>G (p.Leu224=) c.462T>G (p.Leu154=) n.850T>G n.702T>G n.789T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171320T= | CA1640938884 | BCKDHB | c.672T= (p.Leu224=) c.462T= (p.Leu154=) n.850T= n.702T= n.789T= | |
6 | g.80171321C>A | CA364658628 | BCKDHB | c.673C>A (p.Leu225Ile) c.463C>A (p.Leu155Ile) n.851C>A n.703C>A n.790C>A | gnomAD v4 |
6 | g.80171321C>G | CA364658631 | BCKDHB | c.673C>G (p.Leu225Val) c.463C>G (p.Leu155Val) n.851C>G n.703C>G n.790C>G | ClinVar |
6 | g.80171321C>T | CA364658633 | BCKDHB | c.673C>T (p.Leu225Phe) c.463C>T (p.Leu155Phe) n.851C>T n.703C>T n.790C>T | |
6 | g.80171322T>A | CA364658635 | BCKDHB | c.674T>A (p.Leu225His) c.464T>A (p.Leu155His) n.852T>A n.704T>A n.791T>A | |
6 | g.80171322T>C | CA224331 | BCKDHB | c.674T>C (p.Leu225Pro) c.464T>C (p.Leu155Pro) n.852T>C n.704T>C n.791T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80171322T>G | CA364658634 | BCKDHB | c.674T>G (p.Leu225Arg) c.464T>G (p.Leu155Arg) n.852T>G n.704T>G n.791T>G | |
6 | g.80171322T= | CA1640938885 | BCKDHB | c.674T= (p.Leu225=) c.464T= (p.Leu155=) n.852T= n.704T= n.791T= | |
6 | g.80171323T>A | CA451072924 | BCKDHB | c.675T>A (p.Leu225=) c.465T>A (p.Leu155=) n.853T>A n.705T>A n.792T>A | |
6 | g.80171323T>C | CA451072923 | BCKDHB | c.675T>C (p.Leu225=) c.465T>C (p.Leu155=) n.853T>C n.705T>C n.792T>C | |
6 | g.80171323T>G | CA451072922 | BCKDHB | c.675T>G (p.Leu225=) c.465T>G (p.Leu155=) n.853T>G n.705T>G n.792T>G | |
6 | g.80171324T>A | CA364658637 | BCKDHB | c.676T>A (p.Leu226Met) c.466T>A (p.Leu156Met) n.854T>A n.706T>A n.793T>A | |
6 | g.80171324T>C | CA451072925 | BCKDHB | c.676T>C (p.Leu226=) c.466T>C (p.Leu156=) n.854T>C n.706T>C n.793T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80171324T>G | CA364658636 | BCKDHB | c.676T>G (p.Leu226Val) c.466T>G (p.Leu156Val) n.854T>G n.706T>G n.793T>G | gnomAD v4 |
6 | g.80171324T= | CA1640938886 | BCKDHB | c.676T= (p.Leu226=) c.466T= (p.Leu156=) n.854T= n.706T= n.793T= | |
6 | g.80171325T>A | CA364658640 | BCKDHB | c.677T>A (p.Leu226Ter) c.467T>A (p.Leu156Ter) n.855T>A n.707T>A n.794T>A | |
6 | g.80171325T>C | CA364658638 | BCKDHB | c.677T>C (p.Leu226Ser) c.467T>C (p.Leu156Ser) n.855T>C n.707T>C n.794T>C | |
6 | g.80171325T>G | CA364658639 | BCKDHB | c.677T>G (p.Leu226Trp) c.467T>G (p.Leu156Trp) n.855T>G n.707T>G n.794T>G | |
6 | g.80171326G>A | CA451072926 | BCKDHB | c.678G>A (p.Leu226=) c.468G>A (p.Leu156=) n.856G>A n.708G>A n.795G>A | ClinVar dbSNP gnomAD v4 COSMIC |
6 | g.80171326G>C | CA364658641 | BCKDHB | c.678G>C (p.Leu226Phe) c.468G>C (p.Leu156Phe) n.856G>C n.708G>C n.795G>C | |
6 | g.80171326G>T | CA364658642 | BCKDHB | c.678G>T (p.Leu226Phe) c.468G>T (p.Leu156Phe) n.856G>T n.708G>T n.795G>T | |
6 | g.80171327T>A | CA364658643 | BCKDHB | c.679T>A (p.Ser227Thr) c.469T>A (p.Ser157Thr) n.857T>A n.709T>A n.796T>A | |
6 | g.80171327T>C | CA364658644 | BCKDHB | c.679T>C (p.Ser227Pro) c.469T>C (p.Ser157Pro) n.857T>C n.709T>C n.796T>C | |
6 | g.80171327T>G | CA364658645 | BCKDHB | c.679T>G (p.Ser227Ala) c.469T>G (p.Ser157Ala) n.857T>G n.709T>G n.796T>G | |
6 | g.80171328C>A | CA364658646 | BCKDHB | c.680C>A (p.Ser227Ter) c.470C>A (p.Ser157Ter) n.858C>A n.710C>A n.797C>A | |
6 | g.80171328C= | CA1640938887 | BCKDHB | c.680C= (p.Ser227=) c.470C= (p.Ser157=) n.858C= n.710C= n.797C= | |
6 | g.80171328C>G | CA364658647 | BCKDHB | c.680C>G (p.Ser227Ter) c.470C>G (p.Ser157Ter) n.858C>G n.710C>G n.797C>G | |
6 | g.80171328C>T | CA3902711 | BCKDHB | c.680C>T (p.Ser227Leu) c.470C>T (p.Ser157Leu) n.858C>T n.710C>T n.797C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80171329A= | CA1640938888 | BCKDHB | c.681A= (p.Ser227=) c.471A= (p.Ser157=) n.859A= n.711A= n.798A= | |
6 | g.80171329A>C | CA3902712 | BCKDHB | c.681A>C (p.Ser227=) c.471A>C (p.Ser157=) n.859A>C n.711A>C n.798A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171329A>G | CA451072927 | BCKDHB | c.681A>G (p.Ser227=) c.471A>G (p.Ser157=) n.859A>G n.711A>G n.798A>G | ClinVar dbSNP gnomAD v4 |
6 | g.80171329A>T | CA451072928 | BCKDHB | c.681A>T (p.Ser227=) c.471A>T (p.Ser157=) n.859A>T n.711A>T n.798A>T | |
6 | g.80171330T>A | CA364658650 | BCKDHB | c.682T>A (p.Cys228Ser) c.472T>A (p.Cys158Ser) n.860T>A n.712T>A n.799T>A | |
6 | g.80171330T>C | CA364658649 | BCKDHB | c.682T>C (p.Cys228Arg) c.472T>C (p.Cys158Arg) n.860T>C n.712T>C n.799T>C | gnomAD v4 |
6 | g.80171330T>G | CA364658648 | BCKDHB | c.682T>G (p.Cys228Gly) c.472T>G (p.Cys158Gly) n.860T>G n.712T>G n.799T>G | |
6 | g.80171331G>A | CA364658651 | BCKDHB | c.683G>A (p.Cys228Tyr) c.473G>A (p.Cys158Tyr) n.861G>A n.713G>A n.800G>A | gnomAD v4 |
6 | g.80171331G>C | CA364658652 | BCKDHB | c.683G>C (p.Cys228Ser) c.473G>C (p.Cys158Ser) n.861G>C n.713G>C n.800G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171331G= | CA1640938889 | BCKDHB | c.683G= (p.Cys228=) c.473G= (p.Cys158=) n.861G= n.713G= n.800G= | |
6 | g.80171331G>T | CA364658653 | BCKDHB | c.683G>T (p.Cys228Phe) c.473G>T (p.Cys158Phe) n.861G>T n.713G>T n.800G>T | gnomAD v4 |
6 | g.80171332C>A | CA364658654 | BCKDHB | c.684C>A (p.Cys228Ter) c.474C>A (p.Cys158Ter) n.862C>A n.714C>A n.801C>A | |
6 | g.80171332C>G | CA364658655 | BCKDHB | c.684C>G (p.Cys228Trp) c.474C>G (p.Cys158Trp) n.862C>G n.714C>G n.801C>G | |
6 | g.80171332C>T | CA451072929 | BCKDHB | c.684C>T (p.Cys228=) c.474C>T (p.Cys158=) n.862C>T n.714C>T n.801C>T | gnomAD v4 |
6 | g.80171333A= | CA1640938890 | BCKDHB | c.685A= (p.Ile229=) c.475A= (p.Ile159=) n.863A= n.715A= n.802A= | |
6 | g.80171333A>C | CA364658656 | BCKDHB | c.685A>C (p.Ile229Leu) c.475A>C (p.Ile159Leu) n.863A>C n.715A>C n.802A>C | |
6 | g.80171333A>G | CA364658657 | BCKDHB | c.685A>G (p.Ile229Val) c.475A>G (p.Ile159Val) n.863A>G n.715A>G n.802A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171333A>T | CA364658658 | BCKDHB | c.685A>T (p.Ile229Leu) c.475A>T (p.Ile159Leu) n.863A>T n.715A>T n.802A>T | |
6 | g.80171334T>A | CA364658659 | BCKDHB | c.686T>A (p.Ile229Lys) c.476T>A (p.Ile159Lys) n.864T>A n.716T>A n.803T>A | |
6 | g.80171334T>C | CA142284284 | BCKDHB | c.686T>C (p.Ile229Thr) c.476T>C (p.Ile159Thr) n.864T>C n.716T>C n.803T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80171334T>G | CA364658660 | BCKDHB | c.686T>G (p.Ile229Arg) c.476T>G (p.Ile159Arg) n.864T>G n.716T>G n.803T>G | |
6 | g.80171334T= | CA1640938891 | BCKDHB | c.686T= (p.Ile229=) c.476T= (p.Ile159=) n.864T= n.716T= n.803T= | |
6 | g.80171334dup | CA2679498383 | BCKDHB | c.686dup (p.Glu230ArgfsTer3) c.476dup (p.Glu160ArgfsTer3) n.864dup n.716dup n.803dup | gnomAD v4 |
6 | g.80171335A>C | CA451072930 | BCKDHB | c.687A>C (p.Ile229=) c.477A>C (p.Ile159=) n.865A>C n.717A>C n.804A>C | |
6 | g.80171335A>G | CA364658661 | BCKDHB | c.687A>G (p.Ile229Met) c.477A>G (p.Ile159Met) n.865A>G n.717A>G n.804A>G | gnomAD v4 |
6 | g.80171335A>T | CA451072931 | BCKDHB | c.687A>T (p.Ile229=) c.477A>T (p.Ile159=) n.865A>T n.717A>T n.804A>T | |
6 | g.80171336G>A | CA364658663 | BCKDHB | c.688G>A (p.Glu230Lys) c.478G>A (p.Glu160Lys) n.866G>A n.718G>A n.805G>A | |
6 | g.80171336G>C | CA364658664 | BCKDHB | c.688G>C (p.Glu230Gln) c.478G>C (p.Glu160Gln) n.866G>C n.718G>C n.805G>C | |
6 | g.80171336G>T | CA364658662 | BCKDHB | c.688G>T (p.Glu230Ter) c.478G>T (p.Glu160Ter) n.866G>T n.718G>T n.805G>T | gnomAD v4 COSMIC |
6 | g.80171337A>C | CA364658665 | BCKDHB | c.689A>C (p.Glu230Ala) c.479A>C (p.Glu160Ala) n.867A>C n.719A>C n.806A>C | |
6 | g.80171337A>G | CA364658666 | BCKDHB | c.689A>G (p.Glu230Gly) c.479A>G (p.Glu160Gly) n.867A>G n.719A>G n.806A>G | |
6 | g.80171337A>T | CA364658667 | BCKDHB | c.689A>T (p.Glu230Val) c.479A>T (p.Glu160Val) n.867A>T n.719A>T n.806A>T | |
6 | g.80171338G>A | CA451072932 | BCKDHB | c.690G>A (p.Glu230=) c.480G>A (p.Glu160=) n.868G>A n.720G>A n.807G>A | |
6 | g.80171338G>C | CA364658668 | BCKDHB | c.690G>C (p.Glu230Asp) c.480G>C (p.Glu160Asp) n.868G>C n.720G>C n.807G>C | |
6 | g.80171338G>T | CA364658669 | BCKDHB | c.690G>T (p.Glu230Asp) c.480G>T (p.Glu160Asp) n.868G>T n.720G>T n.807G>T | gnomAD v4 COSMIC |
6 | g.80171339G>A | CA364658670 | BCKDHB | c.691G>A (p.Asp231Asn) c.481G>A (p.Asp161Asn) n.869G>A n.721G>A n.808G>A | |
6 | g.80171339G>C | CA364658671 | BCKDHB | c.691G>C (p.Asp231His) c.481G>C (p.Asp161His) n.869G>C n.721G>C n.808G>C | |
6 | g.80171339G>T | CA364658672 | BCKDHB | c.691G>T (p.Asp231Tyr) c.481G>T (p.Asp161Tyr) n.869G>T n.721G>T n.808G>T | |
6 | g.80171339_80171341delinsAA | CA2580075917 | BCKDHB | c.691_693delinsAA (p.Asp231LysfsTer23) c.481_483delinsAA (p.Asp161LysfsTer23) n.869_871delinsAA n.721_723delinsAA n.808_810delinsAA | ClinVar |
6 | g.80171340A>C | CA364658673 | BCKDHB | c.692A>C (p.Asp231Ala) c.482A>C (p.Asp161Ala) n.870A>C n.722A>C n.809A>C | |
6 | g.80171340A>G | CA364658674 | BCKDHB | c.692A>G (p.Asp231Gly) c.482A>G (p.Asp161Gly) n.870A>G n.722A>G n.809A>G | |
6 | g.80171340A>T | CA364658675 | BCKDHB | c.692A>T (p.Asp231Val) c.482A>T (p.Asp161Val) n.870A>T n.722A>T n.809A>T | |
6 | g.80171341T>A | CA364658676 | BCKDHB | c.693T>A (p.Asp231Glu) c.483T>A (p.Asp161Glu) n.871T>A n.723T>A n.810T>A | |
6 | g.80171341T>C | CA451072933 | BCKDHB | c.693T>C (p.Asp231=) c.483T>C (p.Asp161=) n.871T>C n.723T>C n.810T>C | ClinVar dbSNP |
6 | g.80171341T>G | CA364658677 | BCKDHB | c.693T>G (p.Asp231Glu) c.483T>G (p.Asp161Glu) n.871T>G n.723T>G n.810T>G | |
6 | g.80171341T= | CA1640938892 | BCKDHB | c.693T= (p.Asp231=) c.483T= (p.Asp161=) n.871T= n.723T= n.810T= | |
6 | g.80171342A>C | CA364658680 | BCKDHB | c.694A>C (p.Lys232Gln) c.484A>C (p.Lys162Gln) n.872A>C n.724A>C n.811A>C | |
6 | g.80171342A>G | CA364658679 | BCKDHB | c.694A>G (p.Lys232Glu) c.484A>G (p.Lys162Glu) n.872A>G n.724A>G n.811A>G | gnomAD v4 COSMIC |
6 | g.80171342A>T | CA364658678 | BCKDHB | c.694A>T (p.Lys232Ter) c.484A>T (p.Lys162Ter) n.872A>T n.724A>T n.811A>T | |
6 | g.80171343A= | CA1640938893 | BCKDHB | c.695A= (p.Lys232=) c.485A= (p.Lys162=) n.873A= n.725A= n.812A= | |
6 | g.80171343A>C | CA364658681 | BCKDHB | c.695A>C (p.Lys232Thr) c.485A>C (p.Lys162Thr) n.873A>C n.725A>C n.812A>C | dbSNP |
6 | g.80171343A>G | CA364658682 | BCKDHB | c.695A>G (p.Lys232Arg) c.485A>G (p.Lys162Arg) n.873A>G n.725A>G n.812A>G | |
6 | g.80171343A>T | CA364658683 | BCKDHB | c.695A>T (p.Lys232Ile) c.485A>T (p.Lys162Ile) n.873A>T n.725A>T n.812A>T | |
6 | g.80171344A>C | CA364658684 | BCKDHB | c.696A>C (p.Lys232Asn) c.486A>C (p.Lys162Asn) n.874A>C n.726A>C n.813A>C | gnomAD v4 |
6 | g.80171344A>G | CA451072934 | BCKDHB | c.696A>G (p.Lys232=) c.486A>G (p.Lys162=) n.874A>G n.726A>G n.813A>G | |
6 | g.80171344A>T | CA364658685 | BCKDHB | c.696A>T (p.Lys232Asn) c.486A>T (p.Lys162Asn) n.874A>T n.726A>T n.813A>T | |
6 | g.80171345A>C | CA364658686 | BCKDHB | c.697A>C (p.Asn233His) c.487A>C (p.Asn163His) n.875A>C n.727A>C n.814A>C | |
6 | g.80171345A>G | CA364658687 | BCKDHB | c.697A>G (p.Asn233Asp) c.487A>G (p.Asn163Asp) n.875A>G n.727A>G n.814A>G | |
6 | g.80171345A>T | CA364658688 | BCKDHB | c.697A>T (p.Asn233Tyr) c.487A>T (p.Asn163Tyr) n.875A>T n.727A>T n.814A>T | |
6 | g.80171346A= | CA1640938894 | BCKDHB | c.698A= (p.Asn233=) c.488A= (p.Asn163=) n.876A= n.728A= n.815A= | |
6 | g.80171346A>C | CA364658689 | BCKDHB | c.698A>C (p.Asn233Thr) c.488A>C (p.Asn163Thr) n.876A>C n.728A>C n.815A>C | COSMIC |
6 | g.80171346A>G | CA3902713 | BCKDHB | c.698A>G (p.Asn233Ser) c.488A>G (p.Asn163Ser) n.876A>G n.728A>G n.815A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80171346A>T | CA364658690 | BCKDHB | c.698A>T (p.Asn233Ile) c.488A>T (p.Asn163Ile) n.876A>T n.728A>T n.815A>T | |
6 | g.80171347T>A | CA364658691 | BCKDHB | c.699T>A (p.Asn233Lys) c.489T>A (p.Asn163Lys) n.877T>A n.729T>A n.816T>A | |
6 | g.80171347T>C | CA451072935 | BCKDHB | c.699T>C (p.Asn233=) c.489T>C (p.Asn163=) n.877T>C n.729T>C n.816T>C | ClinVar gnomAD v4 |
6 | g.80171347T>G | CA364658692 | BCKDHB | c.699T>G (p.Asn233Lys) c.489T>G (p.Asn163Lys) n.877T>G n.729T>G n.816T>G | |
6 | g.80171348C>A | CA364658693 | BCKDHB | c.700C>A (p.Pro234Thr) c.490C>A (p.Pro164Thr) n.878C>A n.730C>A n.817C>A | gnomAD v4 |
6 | g.80171348C= | CA1640938895 | BCKDHB | c.700C= (p.Pro234=) c.490C= (p.Pro164=) n.878C= n.730C= n.817C= | |
6 | g.80171348C>G | CA364658694 | BCKDHB | c.700C>G (p.Pro234Ala) c.490C>G (p.Pro164Ala) n.878C>G n.730C>G n.817C>G | |
6 | g.80171348C>T | CA3902714 | BCKDHB | c.700C>T (p.Pro234Ser) c.490C>T (p.Pro164Ser) n.878C>T n.730C>T n.817C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.80171349C>A | CA364658695 | BCKDHB | c.701C>A (p.Pro234His) c.491C>A (p.Pro164His) n.879C>A n.731C>A n.818C>A | |
6 | g.80171349C>G | CA364658697 | BCKDHB | c.701C>G (p.Pro234Arg) c.491C>G (p.Pro164Arg) n.879C>G n.731C>G n.818C>G | |
6 | g.80171349C>T | CA364658696 | BCKDHB | c.701C>T (p.Pro234Leu) c.491C>T (p.Pro164Leu) n.879C>T n.731C>T n.818C>T | COSMIC |
6 | g.80171350T>A | CA451072936 | BCKDHB | c.702T>A (p.Pro234=) c.492T>A (p.Pro164=) n.880T>A n.732T>A n.819T>A | |
6 | g.80171350T>C | CA451072937 | BCKDHB | c.702T>C (p.Pro234=) c.492T>C (p.Pro164=) n.880T>C n.732T>C n.819T>C | ClinVar dbSNP gnomAD v4 |
6 | g.80171350T>G | CA451072938 | BCKDHB | c.702T>G (p.Pro234=) c.492T>G (p.Pro164=) n.880T>G n.732T>G n.819T>G | ClinVar |
6 | g.80171350T= | CA1640938896 | BCKDHB | c.702T= (p.Pro234=) c.492T= (p.Pro164=) n.880T= n.732T= n.819T= | |
6 | g.80171351T>A | CA364658698 | BCKDHB | c.703T>A (p.Cys235Ser) c.493T>A (p.Cys165Ser) n.881T>A n.733T>A n.820T>A | |
6 | g.80171351T>C | CA364658699 | BCKDHB | c.703T>C (p.Cys235Arg) c.493T>C (p.Cys165Arg) n.881T>C n.733T>C n.820T>C | |
6 | g.80171351T>G | CA364658700 | BCKDHB | c.703T>G (p.Cys235Gly) c.493T>G (p.Cys165Gly) n.881T>G n.733T>G n.820T>G | |
6 | g.80171352G>A | CA364658701 | BCKDHB | c.704G>A (p.Cys235Tyr) c.494G>A (p.Cys165Tyr) n.882G>A n.734G>A n.821G>A | ClinVar dbSNP gnomAD v4 |
6 | g.80171352G>C | CA142284285 | BCKDHB | c.704G>C (p.Cys235Ser) c.494G>C (p.Cys165Ser) n.882G>C n.734G>C n.821G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80171352G= | CA1640938897 | BCKDHB | c.704G= (p.Cys235=) c.494G= (p.Cys165=) n.882G= n.734G= n.821G= | |
6 | g.80171352G>T | CA364658702 | BCKDHB | c.704G>T (p.Cys235Phe) c.494G>T (p.Cys165Phe) n.882G>T n.734G>T n.821G>T | |
6 | g.80171353del | CA2695206779 | BCKDHB | c.705del (p.Cys235Ter) c.495del (p.Cys165Ter) n.883del n.735del n.822del | |
6 | g.80171353T>A | CA364658703 | BCKDHB | c.705T>A (p.Cys235Ter) c.495T>A (p.Cys165Ter) n.883T>A n.735T>A n.822T>A | |
6 | g.80171353T>C | CA451072939 | BCKDHB | c.705T>C (p.Cys235=) c.495T>C (p.Cys165=) n.883T>C n.735T>C n.822T>C | ClinVar |
6 | g.80171353T>G | CA364658704 | BCKDHB | c.705T>G (p.Cys235Trp) c.495T>G (p.Cys165Trp) n.883T>G n.735T>G n.822T>G | |
6 | g.80171354A= | CA1640938898 | BCKDHB | c.706A= (p.Ile236=) c.496A= (p.Ile166=) n.884A= n.736A= n.823A= | |
6 | g.80171354A>C | CA364658705 | BCKDHB | c.706A>C (p.Ile236Leu) c.496A>C (p.Ile166Leu) n.884A>C n.736A>C n.823A>C | |
6 | g.80171354A>G | CA364658707 | BCKDHB | c.706A>G (p.Ile236Val) c.496A>G (p.Ile166Val) n.884A>G n.736A>G n.823A>G | dbSNP gnomAD v4 |
6 | g.80171354A>T | CA364658706 | BCKDHB | c.706A>T (p.Ile236Leu) c.496A>T (p.Ile166Leu) n.884A>T n.736A>T n.823A>T | |
6 | g.80171355T>A | CA364658708 | BCKDHB | c.707T>A (p.Ile236Lys) c.497T>A (p.Ile166Lys) n.885T>A n.737T>A n.824T>A | gnomAD v4 |
6 | g.80171355T>C | CA142284286 | BCKDHB | c.707T>C (p.Ile236Thr) c.497T>C (p.Ile166Thr) n.885T>C n.737T>C n.824T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80171355T>G | CA364658709 | BCKDHB | c.707T>G (p.Ile236Arg) c.497T>G (p.Ile166Arg) n.885T>G n.737T>G n.824T>G | |
6 | g.80171355T= | CA1640938899 | BCKDHB | c.707T= (p.Ile236=) c.497T= (p.Ile166=) n.885T= n.737T= n.824T= | |
6 | g.80171356A= | CA1640938900 | BCKDHB | c.708A= (p.Ile236=) c.498A= (p.Ile166=) n.886A= n.738A= n.825A= | |
6 | g.80171356A>C | CA451072941 | BCKDHB | c.708A>C (p.Ile236=) c.498A>C (p.Ile166=) n.886A>C n.738A>C n.825A>C | ClinVar dbSNP |
6 | g.80171356A>G | CA364658710 | BCKDHB | c.708A>G (p.Ile236Met) c.498A>G (p.Ile166Met) n.886A>G n.738A>G n.825A>G | gnomAD v4 |
6 | g.80171356A>T | CA451072940 | BCKDHB | c.708A>T (p.Ile236=) c.498A>T (p.Ile166=) n.886A>T n.738A>T n.825A>T | |
6 | g.80171357T>A | CA364658711 | BCKDHB | c.709T>A (p.Phe237Ile) c.499T>A (p.Phe167Ile) n.887T>A n.739T>A n.826T>A | |
6 | g.80171357T>C | CA364658713 | BCKDHB | c.709T>C (p.Phe237Leu) c.499T>C (p.Phe167Leu) n.887T>C n.739T>C n.826T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171357T>G | CA364658712 | BCKDHB | c.709T>G (p.Phe237Val) c.499T>G (p.Phe167Val) n.887T>G n.739T>G n.826T>G | |
6 | g.80171357T= | CA1640938901 | BCKDHB | c.709T= (p.Phe237=) c.499T= (p.Phe167=) n.887T= n.739T= n.826T= | |
6 | g.80171362dup | CA568398910 | BCKDHB | c.714dup (p.Glu239Ter) c.504dup (p.Glu169Ter) n.892dup n.744dup n.831dup | ClinVar dbSNP gnomAD v2 |
6 | g.80171362del | CA2558170353 | BCKDHB | c.714del (p.Phe238LeufsTer16) c.504del (p.Phe168LeufsTer16) n.892del n.744del n.831del | gnomAD v4 |
6 | g.80171358T>A | CA364658714 | BCKDHB | c.710T>A (p.Phe237Tyr) c.500T>A (p.Phe167Tyr) n.888T>A n.740T>A n.827T>A | |
6 | g.80171358T>C | CA364658715 | BCKDHB | c.710T>C (p.Phe237Ser) c.500T>C (p.Phe167Ser) n.888T>C n.740T>C n.827T>C | |
6 | g.80171358T>G | CA364658716 | BCKDHB | c.710T>G (p.Phe237Cys) c.500T>G (p.Phe167Cys) n.888T>G n.740T>G n.827T>G | gnomAD v4 |
6 | g.80171359T>A | CA364658717 | BCKDHB | c.711T>A (p.Phe237Leu) c.501T>A (p.Phe167Leu) n.889T>A n.741T>A n.828T>A | |
6 | g.80171359T>C | CA451072942 | BCKDHB | c.711T>C (p.Phe237=) c.501T>C (p.Phe167=) n.889T>C n.741T>C n.828T>C | |
6 | g.80171359T>G | CA3902715 | BCKDHB | c.711T>G (p.Phe237Leu) c.501T>G (p.Phe167Leu) n.889T>G n.741T>G n.828T>G | dbSNP ExAC gnomAD v2 |
6 | g.80171359T= | CA1640938902 | BCKDHB | c.711T= (p.Phe237=) c.501T= (p.Phe167=) n.889T= n.741T= n.828T= | |
6 | g.80171360T>A | CA364658718 | BCKDHB | c.712T>A (p.Phe238Ile) c.502T>A (p.Phe168Ile) n.890T>A n.742T>A n.829T>A | |
6 | g.80171360T>C | CA364658719 | BCKDHB | c.712T>C (p.Phe238Leu) c.502T>C (p.Phe168Leu) n.890T>C n.742T>C n.829T>C | |
6 | g.80171360T>G | CA364658720 | BCKDHB | c.712T>G (p.Phe238Val) c.502T>G (p.Phe168Val) n.890T>G n.742T>G n.829T>G | |
6 | g.80171361T>A | CA364658721 | BCKDHB | c.713T>A (p.Phe238Tyr) c.503T>A (p.Phe168Tyr) n.891T>A n.743T>A n.830T>A | |
6 | g.80171361T>C | CA364658722 | BCKDHB | c.713T>C (p.Phe238Ser) c.503T>C (p.Phe168Ser) n.891T>C n.743T>C n.830T>C | |
6 | g.80171361T>G | CA364658723 | BCKDHB | c.713T>G (p.Phe238Cys) c.503T>G (p.Phe168Cys) n.891T>G n.743T>G n.830T>G | |
6 | g.80171362T>A | CA364658724 | BCKDHB | c.714T>A (p.Phe238Leu) c.504T>A (p.Phe168Leu) n.892T>A n.744T>A n.831T>A | |
6 | g.80171362T>C | CA3902716 | BCKDHB | c.714T>C (p.Phe238=) c.504T>C (p.Phe168=) n.892T>C n.744T>C n.831T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171362T>G | CA364658725 | BCKDHB | c.714T>G (p.Phe238Leu) c.504T>G (p.Phe168Leu) n.892T>G n.744T>G n.831T>G | |
6 | g.80171362T= | CA1640938903 | BCKDHB | c.714T= (p.Phe238=) c.504T= (p.Phe168=) n.892T= n.744T= n.831T= | |
6 | g.80171363G>A | CA364658726 | BCKDHB | c.715G>A (p.Glu239Lys) c.505G>A (p.Glu169Lys) n.893G>A n.745G>A n.832G>A | gnomAD v4 |
6 | g.80171363G>C | CA364658727 | BCKDHB | c.715G>C (p.Glu239Gln) c.505G>C (p.Glu169Gln) n.893G>C n.745G>C n.832G>C | |
6 | g.80171363G>T | CA364658728 | BCKDHB | c.715G>T (p.Glu239Ter) c.505G>T (p.Glu169Ter) n.893G>T n.745G>T n.832G>T | gnomAD v4 COSMIC |
6 | g.80171363_80171364delinsTT | CA2695206780 | BCKDHB | c.715_716delinsTT (p.Glu239Leu) c.505_506delinsTT (p.Glu169Leu) n.893_894delinsTT n.745_746delinsTT n.832_833delinsTT | |
6 | g.80171364A>C | CA364658729 | BCKDHB | c.716A>C (p.Glu239Ala) c.506A>C (p.Glu169Ala) n.894A>C n.746A>C n.833A>C | |
6 | g.80171364A>G | CA364658730 | BCKDHB | c.716A>G (p.Glu239Gly) c.506A>G (p.Glu169Gly) n.894A>G n.746A>G n.833A>G | |
6 | g.80171364A>T | CA364658731 | BCKDHB | c.716A>T (p.Glu239Val) c.506A>T (p.Glu169Val) n.894A>T n.746A>T n.833A>T | |
6 | g.80171365A>C | CA364658732 | BCKDHB | c.717A>C (p.Glu239Asp) c.507A>C (p.Glu169Asp) n.895A>C n.747A>C n.834A>C | |
6 | g.80171365A>G | CA451072943 | BCKDHB | c.717A>G (p.Glu239=) c.507A>G (p.Glu169=) n.895A>G n.747A>G n.834A>G | gnomAD v4 |
6 | g.80171365A>T | CA364658733 | BCKDHB | c.717A>T (p.Glu239Asp) c.507A>T (p.Glu169Asp) n.895A>T n.747A>T n.834A>T | |
6 | g.80171366C>A | CA364658734 | BCKDHB | c.718C>A (p.Pro240Thr) c.508C>A (p.Pro170Thr) n.896C>A n.748C>A n.835C>A | |
6 | g.80171366C>G | CA364658735 | BCKDHB | c.718C>G (p.Pro240Ala) c.508C>G (p.Pro170Ala) n.896C>G n.748C>G n.835C>G | |
6 | g.80171366C>T | CA364658736 | BCKDHB | c.718C>T (p.Pro240Ser) c.508C>T (p.Pro170Ser) n.896C>T n.748C>T n.835C>T | gnomAD v4 |
6 | g.80171367del | CA2578677817 | BCKDHB | c.719del (p.Pro240LeufsTer14) c.509del (p.Pro170LeufsTer14) n.897del n.749del n.836del | dbSNP |
6 | g.80171367C>A | CA364658739 | BCKDHB | c.719C>A (p.Pro240His) c.509C>A (p.Pro170His) n.897C>A n.749C>A n.836C>A | gnomAD v4 |
6 | g.80171367C>G | CA364658738 | BCKDHB | c.719C>G (p.Pro240Arg) c.509C>G (p.Pro170Arg) n.897C>G n.749C>G n.836C>G | |
6 | g.80171367C>T | CA364658737 | BCKDHB | c.719C>T (p.Pro240Leu) c.509C>T (p.Pro170Leu) n.897C>T n.749C>T n.836C>T | |
6 | g.80171368T>A | CA451072944 | BCKDHB | c.720T>A (p.Pro240=) c.510T>A (p.Pro170=) n.898T>A n.750T>A n.837T>A | gnomAD v4 |
6 | g.80171368T>C | CA451072945 | BCKDHB | c.720T>C (p.Pro240=) c.510T>C (p.Pro170=) n.898T>C n.750T>C n.837T>C | gnomAD v4 |
6 | g.80171368T>G | CA451072946 | BCKDHB | c.720T>G (p.Pro240=) c.510T>G (p.Pro170=) n.898T>G n.750T>G n.837T>G | gnomAD v4 |
6 | g.80171370_80171379dup | CA2580075918 | BCKDHB | c.722_731dup (p.Tyr244Ter) c.512_521dup (p.Tyr174Ter) n.900_909dup n.752_761dup n.839_848dup | ClinVar |
6 | g.80171369A= | CA1640938904 | BCKDHB | c.721A= (p.Lys241=) c.511A= (p.Lys171=) n.899A= n.751A= n.838A= | |
6 | g.80171369A>C | CA364658740 | BCKDHB | c.721A>C (p.Lys241Gln) c.511A>C (p.Lys171Gln) n.899A>C n.751A>C n.838A>C | |
6 | g.80171369A>G | CA364658741 | BCKDHB | c.721A>G (p.Lys241Glu) c.511A>G (p.Lys171Glu) n.899A>G n.751A>G n.838A>G | |
6 | g.80171369A>T | CA364658742 | BCKDHB | c.721A>T (p.Lys241Ter) c.511A>T (p.Lys171Ter) n.899A>T n.751A>T n.838A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.80171372del | CA2679498384 | BCKDHB | c.724del (p.Ile242TyrfsTer12) c.514del (p.Ile172TyrfsTer12) n.902del n.754del n.841del | gnomAD v4 |
6 | g.80171370A>C | CA364658743 | BCKDHB | c.722A>C (p.Lys241Thr) c.512A>C (p.Lys171Thr) n.900A>C n.752A>C n.839A>C | |
6 | g.80171370A>G | CA364658744 | BCKDHB | c.722A>G (p.Lys241Arg) c.512A>G (p.Lys171Arg) n.900A>G n.752A>G n.839A>G | |
6 | g.80171370A>T | CA364658745 | BCKDHB | c.722A>T (p.Lys241Ile) c.512A>T (p.Lys171Ile) n.900A>T n.752A>T n.839A>T | |
6 | g.80171371A= | CA1640938905 | BCKDHB | c.723A= (p.Lys241=) c.513A= (p.Lys171=) n.901A= n.753A= n.840A= | |
6 | g.80171371A>C | CA364658746 | BCKDHB | c.723A>C (p.Lys241Asn) c.513A>C (p.Lys171Asn) n.901A>C n.753A>C n.840A>C | |
6 | g.80171371A>G | CA451072947 | BCKDHB | c.723A>G (p.Lys241=) c.513A>G (p.Lys171=) n.901A>G n.753A>G n.840A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.80171371A>T | CA364658747 | BCKDHB | c.723A>T (p.Lys241Asn) c.513A>T (p.Lys171Asn) n.901A>T n.753A>T n.840A>T | |
6 | g.80171372A= | CA1640938906 | BCKDHB | c.724A= (p.Ile242=) c.514A= (p.Ile172=) n.902A= n.754A= n.841A= | |
6 | g.80171372A>C | CA364658748 | BCKDHB | c.724A>C (p.Ile242Leu) c.514A>C (p.Ile172Leu) n.902A>C n.754A>C n.841A>C | |
6 | g.80171372A>G | CA364658749 | BCKDHB | c.724A>G (p.Ile242Val) c.514A>G (p.Ile172Val) n.902A>G n.754A>G n.841A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171372A>T | CA364658750 | BCKDHB | c.724A>T (p.Ile242Leu) c.514A>T (p.Ile172Leu) n.902A>T n.754A>T n.841A>T | |
6 | g.80171373T>A | CA364658753 | BCKDHB | c.725T>A (p.Ile242Lys) c.515T>A (p.Ile172Lys) n.903T>A n.755T>A n.842T>A | |
6 | g.80171373T>C | CA364658752 | BCKDHB | c.725T>C (p.Ile242Thr) c.515T>C (p.Ile172Thr) n.903T>C n.755T>C n.842T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.80171373T>G | CA364658751 | BCKDHB | c.725T>G (p.Ile242Arg) c.515T>G (p.Ile172Arg) n.903T>G n.755T>G n.842T>G | |
6 | g.80171373T= | CA1640938907 | BCKDHB | c.725T= (p.Ile242=) c.515T= (p.Ile172=) n.903T= n.755T= n.842T= | |
6 | g.80171374A= | CA1640938908 | BCKDHB | c.726A= (p.Ile242=) c.516A= (p.Ile172=) n.904A= n.756A= n.843A= | |
6 | g.80171374A>C | CA451072948 | BCKDHB | c.726A>C (p.Ile242=) c.516A>C (p.Ile172=) n.904A>C n.756A>C n.843A>C | |
6 | g.80171374A>G | CA364658754 | BCKDHB | c.726A>G (p.Ile242Met) c.516A>G (p.Ile172Met) n.904A>G n.756A>G n.843A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171374A>T | CA451072949 | BCKDHB | c.726A>T (p.Ile242=) c.516A>T (p.Ile172=) n.904A>T n.756A>T n.843A>T | |
6 | g.80171375C>A | CA364658756 | BCKDHB | c.727C>A (p.Leu243Ile) c.517C>A (p.Leu173Ile) n.905C>A n.757C>A n.844C>A | gnomAD v4 |
6 | g.80171375C= | CA1640938909 | BCKDHB | c.727C= (p.Leu243=) c.517C= (p.Leu173=) n.905C= n.757C= n.844C= | |
6 | g.80171375C>G | CA364658755 | BCKDHB | c.727C>G (p.Leu243Val) c.517C>G (p.Leu173Val) n.905C>G n.757C>G n.844C>G | |
6 | g.80171375C>T | CA224334 | BCKDHB | c.727C>T (p.Leu243Phe) c.517C>T (p.Leu173Phe) n.905C>T n.757C>T n.844C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171375_80171376delinsCT | CA1640938910 | BCKDHB | c.727_728delinsCT (p.Leu243=) c.517_518delinsCT (p.Leu173=) n.905_906delinsCT n.757_758delinsCT n.844_845delinsCT | |
6 | g.80171376T>A | CA364658757 | BCKDHB | c.728T>A (p.Leu243His) c.518T>A (p.Leu173His) n.906T>A n.758T>A n.845T>A | |
6 | g.80171376T>C | CA364658758 | BCKDHB | c.728T>C (p.Leu243Pro) c.518T>C (p.Leu173Pro) n.906T>C n.758T>C n.845T>C | gnomAD v4 |
6 | g.80171376T>G | CA364658759 | BCKDHB | c.728T>G (p.Leu243Arg) c.518T>G (p.Leu173Arg) n.906T>G n.758T>G n.845T>G | |
6 | g.80171378del | CA16041096 | BCKDHB | c.730del (p.Tyr244ThrfsTer10) c.520del (p.Tyr174ThrfsTer10) n.908del n.760del n.847del | ClinVar dbSNP |
6 | g.80171377T>A | CA451072952 | BCKDHB | c.729T>A (p.Leu243=) c.519T>A (p.Leu173=) n.907T>A n.759T>A n.846T>A | |
6 | g.80171377T>C | CA451072951 | BCKDHB | c.729T>C (p.Leu243=) c.519T>C (p.Leu173=) n.907T>C n.759T>C n.846T>C | |
6 | g.80171377T>G | CA451072950 | BCKDHB | c.729T>G (p.Leu243=) c.519T>G (p.Leu173=) n.907T>G n.759T>G n.846T>G | |
6 | g.80171378T>A | CA364658760 | BCKDHB | c.730T>A (p.Tyr244Asn) c.520T>A (p.Tyr174Asn) n.908T>A n.760T>A n.847T>A | |
6 | g.80171378T>C | CA364658761 | BCKDHB | c.730T>C (p.Tyr244His) c.520T>C (p.Tyr174His) n.908T>C n.760T>C n.847T>C | gnomAD v4 |
6 | g.80171378T>G | CA364658762 | BCKDHB | c.730T>G (p.Tyr244Asp) c.520T>G (p.Tyr174Asp) n.908T>G n.760T>G n.847T>G | |
6 | g.80171379A>C | CA364658763 | BCKDHB | c.731A>C (p.Tyr244Ser) c.521A>C (p.Tyr174Ser) n.909A>C n.761A>C n.848A>C | ClinVar dbSNP |
6 | g.80171379A>G | CA364658764 | BCKDHB | c.731A>G (p.Tyr244Cys) c.521A>G (p.Tyr174Cys) n.909A>G n.761A>G n.848A>G | |
6 | g.80171379A>T | CA364658765 | BCKDHB | c.731A>T (p.Tyr244Phe) c.521A>T (p.Tyr174Phe) n.909A>T n.761A>T n.848A>T | |
6 | g.80171380_80171381del | CA2679498385 | BCKDHB | c.732_733del (p.Tyr244Ter) c.522_523del (p.Tyr174Ter) n.910_911del n.762_763del n.849_850del | gnomAD v4 |
6 | g.80171380C>A | CA364658766 | BCKDHB | c.732C>A (p.Tyr244Ter) c.522C>A (p.Tyr174Ter) n.910C>A n.762C>A n.849C>A | ClinVar dbSNP gnomAD v4 |
6 | g.80171380C= | CA1640938911 | BCKDHB | c.732C= (p.Tyr244=) c.522C= (p.Tyr174=) n.910C= n.762C= n.849C= | |
6 | g.80171380C>G | CA364658767 | BCKDHB | c.732C>G (p.Tyr244Ter) c.522C>G (p.Tyr174Ter) n.910C>G n.762C>G n.849C>G | |
6 | g.80171380C>T | CA3902717 | BCKDHB | c.732C>T (p.Tyr244=) c.522C>T (p.Tyr174=) n.910C>T n.762C>T n.849C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80171381A= | CA1640938912 | BCKDHB | c.733A= (p.Arg245=) c.523A= (p.Arg175=) n.911A= n.763A= n.850A= | |
6 | g.80171381A>C | CA451072953 | BCKDHB | c.733A>C (p.Arg245=) c.523A>C (p.Arg175=) n.911A>C n.763A>C n.850A>C | |
6 | g.80171381A>G | CA3902718 | BCKDHB | c.733A>G (p.Arg245Gly) c.523A>G (p.Arg175Gly) n.911A>G n.763A>G n.850A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.80171381A>T | CA364658768 | BCKDHB | c.733A>T (p.Arg245Trp) c.523A>T (p.Arg175Trp) n.911A>T n.763A>T n.850A>T | |
6 | g.80171382G>A | CA3902719 | BCKDHB | c.734G>A (p.Arg245Lys) c.524G>A (p.Arg175Lys) n.912G>A n.764G>A n.851G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
6 | g.80171382G>C | CA364658769 | BCKDHB | c.734G>C (p.Arg245Thr) c.524G>C (p.Arg175Thr) n.912G>C n.764G>C n.851G>C | |
6 | g.80171382G= | CA1640938913 | BCKDHB | c.734G= (p.Arg245=) c.524G= (p.Arg175=) n.912G= n.764G= n.851G= | |
6 | g.80171382G>T | CA364658770 | BCKDHB | c.734G>T (p.Arg245Met) c.524G>T (p.Arg175Met) n.912G>T n.764G>T n.851G>T | gnomAD v4 |
6 | g.80171383G>A | CA451072954 | BCKDHB | c.735G>A (p.Arg245=) c.525G>A (p.Arg175=) n.913G>A n.765G>A n.852G>A | gnomAD v4 |
6 | g.80171383G>C | CA364658771 | BCKDHB | c.735G>C (p.Arg245Ser) c.525G>C (p.Arg175Ser) n.913G>C n.765G>C n.852G>C | |
6 | g.80171383G>T | CA364658772 | BCKDHB | c.735G>T (p.Arg245Ser) c.525G>T (p.Arg175Ser) n.913G>T n.765G>T n.852G>T |