Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.43253557G>A | CA490131731 | TGM5 | c.633C>T (p.Asp211=) n.102C>T c.387C>T (p.Asp129=) c.630C>T (p.Asp210=) c.384C>T (p.Asp128=) c.636C>T (p.Asp212=) n.807C>T | |
15 | g.43253557G>C | CA392100864 | TGM5 | c.633C>G (p.Asp211Glu) n.102C>G c.387C>G (p.Asp129Glu) c.630C>G (p.Asp210Glu) c.384C>G (p.Asp128Glu) c.636C>G (p.Asp212Glu) n.807C>G | |
15 | g.43253557G>T | CA392100869 | TGM5 | c.633C>A (p.Asp211Glu) n.102C>A c.387C>A (p.Asp129Glu) c.630C>A (p.Asp210Glu) c.384C>A (p.Asp128Glu) c.636C>A (p.Asp212Glu) n.807C>A | gnomAD v4 |
15 | g.43253558T>A | CA392100876 | TGM5 | c.632A>T (p.Asp211Val) n.101A>T c.386A>T (p.Asp129Val) c.629A>T (p.Asp210Val) c.383A>T (p.Asp128Val) c.635A>T (p.Asp212Val) n.806A>T | |
15 | g.43253558T>C | CA392100880 | TGM5 | c.632A>G (p.Asp211Gly) n.101A>G c.386A>G (p.Asp129Gly) c.629A>G (p.Asp210Gly) c.383A>G (p.Asp128Gly) c.635A>G (p.Asp212Gly) n.806A>G | |
15 | g.43253558T>G | CA392100884 | TGM5 | c.632A>C (p.Asp211Ala) n.101A>C c.386A>C (p.Asp129Ala) c.629A>C (p.Asp210Ala) c.383A>C (p.Asp128Ala) c.635A>C (p.Asp212Ala) n.806A>C | |
15 | g.43253559C>A | CA392100890 | TGM5 | c.631G>T (p.Asp211Tyr) n.100G>T c.385G>T (p.Asp129Tyr) c.628G>T (p.Asp210Tyr) c.382G>T (p.Asp128Tyr) c.634G>T (p.Asp212Tyr) n.805G>T | |
15 | g.43253559C>G | CA392100892 | TGM5 | c.631G>C (p.Asp211His) n.100G>C c.385G>C (p.Asp129His) c.628G>C (p.Asp210His) c.382G>C (p.Asp128His) c.634G>C (p.Asp212His) n.805G>C | |
15 | g.43253559C>T | CA392100903 | TGM5 | c.631G>A (p.Asp211Asn) n.100G>A c.385G>A (p.Asp129Asn) c.628G>A (p.Asp210Asn) c.382G>A (p.Asp128Asn) c.634G>A (p.Asp212Asn) n.805G>A | |
15 | g.43253560T>A | CA490131734 | TGM5 | c.630A>T (p.Thr210=) n.99A>T c.384A>T (p.Thr128=) c.627A>T (p.Thr209=) c.381A>T (p.Thr127=) c.633A>T (p.Thr211=) n.804A>T | |
15 | g.43253560T>C | CA7521280 | TGM5 | c.630A>G (p.Thr210=) n.99A>G c.384A>G (p.Thr128=) c.627A>G (p.Thr209=) c.381A>G (p.Thr127=) c.633A>G (p.Thr211=) n.804A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253560T>G | CA490131735 | TGM5 | c.630A>C (p.Thr210=) n.99A>C c.384A>C (p.Thr128=) c.627A>C (p.Thr209=) c.381A>C (p.Thr127=) c.633A>C (p.Thr211=) n.804A>C | |
15 | g.43253560T= | CA2173102968 | TGM5 | c.630A= (p.Thr210=) n.99A= c.384A= (p.Thr128=) c.627A= (p.Thr209=) c.381A= (p.Thr127=) c.633A= (p.Thr211=) n.804A= | |
15 | g.43253562_43253563del | CA2628101364 | TGM5 | c.629_630del (p.Thr210ArgfsTer23) n.98_99del c.383_384del (p.Thr128ArgfsTer23) c.626_627del (p.Thr209ArgfsTer23) c.380_381del (p.Thr127ArgfsTer23) c.632_633del (p.Thr211ArgfsTer23) n.803_804del | gnomAD v4 |
15 | g.43253561G>A | CA392100911 | TGM5 | c.629C>T (p.Thr210Ile) n.98C>T c.383C>T (p.Thr128Ile) c.626C>T (p.Thr209Ile) c.380C>T (p.Thr127Ile) c.632C>T (p.Thr211Ile) n.803C>T | gnomAD v4 |
15 | g.43253561G>C | CA392100916 | TGM5 | c.629C>G (p.Thr210Arg) n.98C>G c.383C>G (p.Thr128Arg) c.626C>G (p.Thr209Arg) c.380C>G (p.Thr127Arg) c.632C>G (p.Thr211Arg) n.803C>G | gnomAD v4 |
15 | g.43253561G>T | CA392100913 | TGM5 | c.629C>A (p.Thr210Lys) n.98C>A c.383C>A (p.Thr128Lys) c.626C>A (p.Thr209Lys) c.380C>A (p.Thr127Lys) c.632C>A (p.Thr211Lys) n.803C>A | |
15 | g.43253562T>A | CA392100929 | TGM5 | c.628A>T (p.Thr210Ser) n.97A>T c.382A>T (p.Thr128Ser) c.625A>T (p.Thr209Ser) c.379A>T (p.Thr127Ser) c.631A>T (p.Thr211Ser) n.802A>T | |
15 | g.43253562T>C | CA392100933 | TGM5 | c.628A>G (p.Thr210Ala) n.97A>G c.382A>G (p.Thr128Ala) c.625A>G (p.Thr209Ala) c.379A>G (p.Thr127Ala) c.631A>G (p.Thr211Ala) n.802A>G | |
15 | g.43253562T>G | CA392100936 | TGM5 | c.628A>C (p.Thr210Pro) n.97A>C c.382A>C (p.Thr128Pro) c.625A>C (p.Thr209Pro) c.379A>C (p.Thr127Pro) c.631A>C (p.Thr211Pro) n.802A>C | |
15 | g.43253563G>A | CA490131737 | TGM5 | c.627C>T (p.Ala209=) n.96C>T c.381C>T (p.Ala127=) c.624C>T (p.Ala208=) c.378C>T (p.Ala126=) c.630C>T (p.Ala210=) n.801C>T | gnomAD v4 |
15 | g.43253563G>C | CA490131739 | TGM5 | c.627C>G (p.Ala209=) n.96C>G c.381C>G (p.Ala127=) c.624C>G (p.Ala208=) c.378C>G (p.Ala126=) c.630C>G (p.Ala210=) n.801C>G | |
15 | g.43253563G>T | CA490131738 | TGM5 | c.627C>A (p.Ala209=) n.96C>A c.381C>A (p.Ala127=) c.624C>A (p.Ala208=) c.378C>A (p.Ala126=) c.630C>A (p.Ala210=) n.801C>A | |
15 | g.43253564G>A | CA392100941 | TGM5 | c.626C>T (p.Ala209Val) n.95C>T c.380C>T (p.Ala127Val) c.623C>T (p.Ala208Val) c.377C>T (p.Ala126Val) c.629C>T (p.Ala210Val) n.800C>T | gnomAD v4 |
15 | g.43253564G>C | CA392100944 | TGM5 | c.626C>G (p.Ala209Gly) n.95C>G c.380C>G (p.Ala127Gly) c.623C>G (p.Ala208Gly) c.377C>G (p.Ala126Gly) c.629C>G (p.Ala210Gly) n.800C>G | |
15 | g.43253564G>T | CA392100947 | TGM5 | c.626C>A (p.Ala209Asp) n.95C>A c.380C>A (p.Ala127Asp) c.623C>A (p.Ala208Asp) c.377C>A (p.Ala126Asp) c.629C>A (p.Ala210Asp) n.800C>A | |
15 | g.43253565C>A | CA392100952 | TGM5 | c.625G>T (p.Ala209Ser) n.94G>T c.379G>T (p.Ala127Ser) c.622G>T (p.Ala208Ser) c.376G>T (p.Ala126Ser) c.628G>T (p.Ala210Ser) n.799G>T | |
15 | g.43253565C= | CA2173102969 | TGM5 | c.625G= (p.Ala209=) n.94G= c.379G= (p.Ala127=) c.622G= (p.Ala208=) c.376G= (p.Ala126=) c.628G= (p.Ala210=) n.799G= | |
15 | g.43253565C>G | CA7521281 | TGM5 | c.625G>C (p.Ala209Pro) n.94G>C c.379G>C (p.Ala127Pro) c.622G>C (p.Ala208Pro) c.376G>C (p.Ala126Pro) c.628G>C (p.Ala210Pro) n.799G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253565C>T | CA392100959 | TGM5 | c.625G>A (p.Ala209Thr) n.94G>A c.379G>A (p.Ala127Thr) c.622G>A (p.Ala208Thr) c.376G>A (p.Ala126Thr) c.628G>A (p.Ala210Thr) n.799G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43253566T>A | CA490131741 | TGM5 | c.624A>T (p.Pro208=) n.93A>T c.378A>T (p.Pro126=) c.621A>T (p.Pro207=) c.375A>T (p.Pro125=) c.627A>T (p.Pro209=) n.798A>T | |
15 | g.43253566T>C | CA490131743 | TGM5 | c.624A>G (p.Pro208=) n.93A>G c.378A>G (p.Pro126=) c.621A>G (p.Pro207=) c.375A>G (p.Pro125=) c.627A>G (p.Pro209=) n.798A>G | |
15 | g.43253566T>G | CA490131745 | TGM5 | c.624A>C (p.Pro208=) n.93A>C c.378A>C (p.Pro126=) c.621A>C (p.Pro207=) c.375A>C (p.Pro125=) c.627A>C (p.Pro209=) n.798A>C | |
15 | g.43253567G>A | CA392100963 | TGM5 | c.623C>T (p.Pro208Leu) n.92C>T c.377C>T (p.Pro126Leu) c.620C>T (p.Pro207Leu) c.374C>T (p.Pro125Leu) c.626C>T (p.Pro209Leu) n.797C>T | |
15 | g.43253567G>C | CA269976092 | TGM5 | c.623C>G (p.Pro208Arg) n.92C>G c.377C>G (p.Pro126Arg) c.620C>G (p.Pro207Arg) c.374C>G (p.Pro125Arg) c.626C>G (p.Pro209Arg) n.797C>G | dbSNP |
15 | g.43253567G= | CA2173102970 | TGM5 | c.623C= (p.Pro208=) n.92C= c.377C= (p.Pro126=) c.620C= (p.Pro207=) c.374C= (p.Pro125=) c.626C= (p.Pro209=) n.797C= | |
15 | g.43253567G>T | CA392100974 | TGM5 | c.623C>A (p.Pro208Gln) n.92C>A c.377C>A (p.Pro126Gln) c.620C>A (p.Pro207Gln) c.374C>A (p.Pro125Gln) c.626C>A (p.Pro209Gln) n.797C>A | |
15 | g.43253569del | CA2628101373 | TGM5 | c.623del (p.Pro208GlnfsTer21) n.92del c.377del (p.Pro126GlnfsTer21) c.620del (p.Pro207GlnfsTer21) c.374del (p.Pro125GlnfsTer21) c.626del (p.Pro209GlnfsTer21) n.797del | gnomAD v4 |
15 | g.43253568G>A | CA269976103 | TGM5 | c.622C>T (p.Pro208Ser) n.91C>T c.376C>T (p.Pro126Ser) c.619C>T (p.Pro207Ser) c.373C>T (p.Pro125Ser) c.625C>T (p.Pro209Ser) n.796C>T | dbSNP gnomAD v4 COSMIC |
15 | g.43253568G>C | CA392100979 | TGM5 | c.622C>G (p.Pro208Ala) n.91C>G c.376C>G (p.Pro126Ala) c.619C>G (p.Pro207Ala) c.373C>G (p.Pro125Ala) c.625C>G (p.Pro209Ala) n.796C>G | gnomAD v4 |
15 | g.43253568G= | CA2173102971 | TGM5 | c.622C= (p.Pro208=) n.91C= c.376C= (p.Pro126=) c.619C= (p.Pro207=) c.373C= (p.Pro125=) c.625C= (p.Pro209=) n.796C= | |
15 | g.43253568G>T | CA269976109 | TGM5 | c.622C>A (p.Pro208Thr) n.91C>A c.376C>A (p.Pro126Thr) c.619C>A (p.Pro207Thr) c.373C>A (p.Pro125Thr) c.625C>A (p.Pro209Thr) n.796C>A | dbSNP gnomAD v4 |
15 | g.43253569G>A | CA490131746 | TGM5 | c.621C>T (p.Asp207=) n.90C>T c.375C>T (p.Asp125=) c.618C>T (p.Asp206=) c.372C>T (p.Asp124=) c.624C>T (p.Asp208=) n.795C>T | |
15 | g.43253569G>C | CA392100990 | TGM5 | c.621C>G (p.Asp207Glu) n.90C>G c.375C>G (p.Asp125Glu) c.618C>G (p.Asp206Glu) c.372C>G (p.Asp124Glu) c.624C>G (p.Asp208Glu) n.795C>G | |
15 | g.43253569G>T | CA392100993 | TGM5 | c.621C>A (p.Asp207Glu) n.90C>A c.375C>A (p.Asp125Glu) c.618C>A (p.Asp206Glu) c.372C>A (p.Asp124Glu) c.624C>A (p.Asp208Glu) n.795C>A | |
15 | g.43253570T>A | CA392100998 | TGM5 | c.620A>T (p.Asp207Val) n.89A>T c.374A>T (p.Asp125Val) c.617A>T (p.Asp206Val) c.371A>T (p.Asp124Val) c.623A>T (p.Asp208Val) n.794A>T | |
15 | g.43253570T>C | CA392101002 | TGM5 | c.620A>G (p.Asp207Gly) n.89A>G c.374A>G (p.Asp125Gly) c.617A>G (p.Asp206Gly) c.371A>G (p.Asp124Gly) c.623A>G (p.Asp208Gly) n.794A>G | |
15 | g.43253570T>G | CA7521282 | TGM5 | c.620A>C (p.Asp207Ala) n.89A>C c.374A>C (p.Asp125Ala) c.617A>C (p.Asp206Ala) c.371A>C (p.Asp124Ala) c.623A>C (p.Asp208Ala) n.794A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253570T= | CA2173102972 | TGM5 | c.620A= (p.Asp207=) n.89A= c.374A= (p.Asp125=) c.617A= (p.Asp206=) c.371A= (p.Asp124=) c.623A= (p.Asp208=) n.794A= | |
15 | g.43253571C>A | CA392101012 | TGM5 | c.619G>T (p.Asp207Tyr) n.88G>T c.373G>T (p.Asp125Tyr) c.616G>T (p.Asp206Tyr) c.370G>T (p.Asp124Tyr) c.622G>T (p.Asp208Tyr) n.793G>T | COSMIC |
15 | g.43253571C>G | CA392101016 | TGM5 | c.619G>C (p.Asp207His) n.88G>C c.373G>C (p.Asp125His) c.616G>C (p.Asp206His) c.370G>C (p.Asp124His) c.622G>C (p.Asp208His) n.793G>C | |
15 | g.43253571C>T | CA392101017 | TGM5 | c.619G>A (p.Asp207Asn) n.88G>A c.373G>A (p.Asp125Asn) c.616G>A (p.Asp206Asn) c.370G>A (p.Asp124Asn) c.622G>A (p.Asp208Asn) n.793G>A | |
15 | g.43253571dup | CA2839675265 | TGM5 | c.619dup (p.Asp207GlyfsTer27) n.88dup c.373dup (p.Asp125GlyfsTer27) c.616dup (p.Asp206GlyfsTer27) c.370dup (p.Asp124GlyfsTer27) c.622dup (p.Asp208GlyfsTer27) n.793dup | |
15 | g.43253572A>C | CA490131752 | TGM5 | c.618T>G (p.Thr206=) n.87T>G c.372T>G (p.Thr124=) c.615T>G (p.Thr205=) c.369T>G (p.Thr123=) c.621T>G (p.Thr207=) n.792T>G | gnomAD v4 |
15 | g.43253572A>G | CA490131750 | TGM5 | c.618T>C (p.Thr206=) n.87T>C c.372T>C (p.Thr124=) c.615T>C (p.Thr205=) c.369T>C (p.Thr123=) c.621T>C (p.Thr207=) n.792T>C | gnomAD v4 |
15 | g.43253572A>T | CA490131751 | TGM5 | c.618T>A (p.Thr206=) n.87T>A c.372T>A (p.Thr124=) c.615T>A (p.Thr205=) c.369T>A (p.Thr123=) c.621T>A (p.Thr207=) n.792T>A | |
15 | g.43253573G>A | CA392101018 | TGM5 | c.617C>T (p.Thr206Ile) n.86C>T c.371C>T (p.Thr124Ile) c.614C>T (p.Thr205Ile) c.368C>T (p.Thr123Ile) c.620C>T (p.Thr207Ile) n.791C>T | gnomAD v4 |
15 | g.43253573G>C | CA392101020 | TGM5 | c.617C>G (p.Thr206Ser) n.86C>G c.371C>G (p.Thr124Ser) c.614C>G (p.Thr205Ser) c.368C>G (p.Thr123Ser) c.620C>G (p.Thr207Ser) n.791C>G | |
15 | g.43253573G>T | CA392101024 | TGM5 | c.617C>A (p.Thr206Asn) n.86C>A c.371C>A (p.Thr124Asn) c.614C>A (p.Thr205Asn) c.368C>A (p.Thr123Asn) c.620C>A (p.Thr207Asn) n.791C>A | |
15 | g.43253574T>A | CA392101035 | TGM5 | c.616A>T (p.Thr206Ser) n.85A>T c.370A>T (p.Thr124Ser) c.613A>T (p.Thr205Ser) c.367A>T (p.Thr123Ser) c.619A>T (p.Thr207Ser) n.790A>T | gnomAD v4 |
15 | g.43253574T>C | CA392101033 | TGM5 | c.616A>G (p.Thr206Ala) n.85A>G c.370A>G (p.Thr124Ala) c.613A>G (p.Thr205Ala) c.367A>G (p.Thr123Ala) c.619A>G (p.Thr207Ala) n.790A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253574T>G | CA392101029 | TGM5 | c.616A>C (p.Thr206Pro) n.85A>C c.370A>C (p.Thr124Pro) c.613A>C (p.Thr205Pro) c.367A>C (p.Thr123Pro) c.619A>C (p.Thr207Pro) n.790A>C | |
15 | g.43253574T= | CA2173102973 | TGM5 | c.616A= (p.Thr206=) n.85A= c.370A= (p.Thr124=) c.613A= (p.Thr205=) c.367A= (p.Thr123=) c.619A= (p.Thr207=) n.790A= | |
15 | g.43253575C>A | CA392101045 | TGM5 | c.615G>T (p.Gln205His) n.84G>T c.369G>T (p.Gln123His) c.612G>T (p.Gln204His) c.366G>T (p.Gln122His) c.618G>T (p.Gln206His) n.789G>T | |
15 | g.43253575C>G | CA392101048 | TGM5 | c.615G>C (p.Gln205His) n.84G>C c.369G>C (p.Gln123His) c.612G>C (p.Gln204His) c.366G>C (p.Gln122His) c.618G>C (p.Gln206His) n.789G>C | |
15 | g.43253575C>T | CA490131754 | TGM5 | c.615G>A (p.Gln205=) n.84G>A c.369G>A (p.Gln123=) c.612G>A (p.Gln204=) c.366G>A (p.Gln122=) c.618G>A (p.Gln206=) n.789G>A | |
15 | g.43253576T>A | CA392101056 | TGM5 | c.614A>T (p.Gln205Leu) n.83A>T c.368A>T (p.Gln123Leu) c.611A>T (p.Gln204Leu) c.365A>T (p.Gln122Leu) c.617A>T (p.Gln206Leu) n.788A>T | |
15 | g.43253576T>C | CA392101059 | TGM5 | c.614A>G (p.Gln205Arg) n.83A>G c.368A>G (p.Gln123Arg) c.611A>G (p.Gln204Arg) c.365A>G (p.Gln122Arg) c.617A>G (p.Gln206Arg) n.788A>G | |
15 | g.43253576T>G | CA392101062 | TGM5 | c.614A>C (p.Gln205Pro) n.83A>C c.368A>C (p.Gln123Pro) c.611A>C (p.Gln204Pro) c.365A>C (p.Gln122Pro) c.617A>C (p.Gln206Pro) n.788A>C | |
15 | g.43253576T= | CA2173102974 | TGM5 | c.614A= (p.Gln205=) n.83A= c.368A= (p.Gln123=) c.611A= (p.Gln204=) c.365A= (p.Gln122=) c.617A= (p.Gln206=) n.788A= | |
15 | g.43253577G>A | CA392101069 | TGM5 | c.613C>T (p.Gln205Ter) n.82C>T c.367C>T (p.Gln123Ter) c.610C>T (p.Gln204Ter) c.364C>T (p.Gln122Ter) c.616C>T (p.Gln206Ter) n.787C>T | |
15 | g.43253577G>C | CA392101075 | TGM5 | c.613C>G (p.Gln205Glu) n.82C>G c.367C>G (p.Gln123Glu) c.610C>G (p.Gln204Glu) c.364C>G (p.Gln122Glu) c.616C>G (p.Gln206Glu) n.787C>G | |
15 | g.43253577G>T | CA392101076 | TGM5 | c.613C>A (p.Gln205Lys) n.82C>A c.367C>A (p.Gln123Lys) c.610C>A (p.Gln204Lys) c.364C>A (p.Gln122Lys) c.616C>A (p.Gln206Lys) n.787C>A | |
15 | g.43253578dup | CA269976136 | TGM5 | c.613dup (p.Gln205ProfsTer3) n.82dup c.367dup (p.Gln123ProfsTer3) c.610dup (p.Gln204ProfsTer3) c.364dup (p.Gln122ProfsTer3) c.616dup (p.Gln206ProfsTer3) n.787dup | dbSNP |
15 | g.43253578G>A | CA490131758 | TGM5 | c.612C>T (p.Phe204=) n.81C>T c.366C>T (p.Phe122=) c.609C>T (p.Phe203=) c.363C>T (p.Phe121=) c.615C>T (p.Phe205=) n.786C>T | gnomAD v4 |
15 | g.43253578G>C | CA392101081 | TGM5 | c.612C>G (p.Phe204Leu) n.81C>G c.366C>G (p.Phe122Leu) c.609C>G (p.Phe203Leu) c.363C>G (p.Phe121Leu) c.615C>G (p.Phe205Leu) n.786C>G | |
15 | g.43253578G>T | CA392101084 | TGM5 | c.612C>A (p.Phe204Leu) n.81C>A c.366C>A (p.Phe122Leu) c.609C>A (p.Phe203Leu) c.363C>A (p.Phe121Leu) c.615C>A (p.Phe205Leu) n.786C>A | |
15 | g.43253579A>C | CA392101088 | TGM5 | c.611T>G (p.Phe204Cys) n.80T>G c.365T>G (p.Phe122Cys) c.608T>G (p.Phe203Cys) c.362T>G (p.Phe121Cys) c.614T>G (p.Phe205Cys) n.785T>G | |
15 | g.43253579A>G | CA392101093 | TGM5 | c.611T>C (p.Phe204Ser) n.80T>C c.365T>C (p.Phe122Ser) c.608T>C (p.Phe203Ser) c.362T>C (p.Phe121Ser) c.614T>C (p.Phe205Ser) n.785T>C | gnomAD v4 |
15 | g.43253579A>T | CA392101095 | TGM5 | c.611T>A (p.Phe204Tyr) n.80T>A c.365T>A (p.Phe122Tyr) c.608T>A (p.Phe203Tyr) c.362T>A (p.Phe121Tyr) c.614T>A (p.Phe205Tyr) n.785T>A | |
15 | g.43253580A>C | CA392101108 | TGM5 | c.610T>G (p.Phe204Val) n.79T>G c.364T>G (p.Phe122Val) c.607T>G (p.Phe203Val) c.361T>G (p.Phe121Val) c.613T>G (p.Phe205Val) n.784T>G | |
15 | g.43253580A>G | CA392101105 | TGM5 | c.610T>C (p.Phe204Leu) n.79T>C c.364T>C (p.Phe122Leu) c.607T>C (p.Phe203Leu) c.361T>C (p.Phe121Leu) c.613T>C (p.Phe205Leu) n.784T>C | |
15 | g.43253580A>T | CA392101100 | TGM5 | c.610T>A (p.Phe204Ile) n.79T>A c.364T>A (p.Phe122Ile) c.607T>A (p.Phe203Ile) c.361T>A (p.Phe121Ile) c.613T>A (p.Phe205Ile) n.784T>A | |
15 | g.43253581G>A | CA269976140 | TGM5 | c.609C>T (p.His203=) n.78C>T c.363C>T (p.His121=) c.606C>T (p.His202=) c.360C>T (p.His120=) c.612C>T (p.His204=) n.783C>T | dbSNP gnomAD v4 |
15 | g.43253581G>C | CA392101115 | TGM5 | c.609C>G (p.His203Gln) n.78C>G c.363C>G (p.His121Gln) c.606C>G (p.His202Gln) c.360C>G (p.His120Gln) c.612C>G (p.His204Gln) n.783C>G | |
15 | g.43253581G= | CA2173102975 | TGM5 | c.609C= (p.His203=) n.78C= c.363C= (p.His121=) c.606C= (p.His202=) c.360C= (p.His120=) c.612C= (p.His204=) n.783C= | |
15 | g.43253581G>T | CA392101120 | TGM5 | c.609C>A (p.His203Gln) n.78C>A c.363C>A (p.His121Gln) c.606C>A (p.His202Gln) c.360C>A (p.His120Gln) c.612C>A (p.His204Gln) n.783C>A | |
15 | g.43253582T>A | CA392101124 | TGM5 | c.608A>T (p.His203Leu) n.77A>T c.362A>T (p.His121Leu) c.605A>T (p.His202Leu) c.359A>T (p.His120Leu) c.611A>T (p.His204Leu) n.782A>T | |
15 | g.43253582T>C | CA7521283 | TGM5 | c.608A>G (p.His203Arg) n.77A>G c.362A>G (p.His121Arg) c.605A>G (p.His202Arg) c.359A>G (p.His120Arg) c.611A>G (p.His204Arg) n.782A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253582T>G | CA392101125 | TGM5 | c.608A>C (p.His203Pro) n.77A>C c.362A>C (p.His121Pro) c.605A>C (p.His202Pro) c.359A>C (p.His120Pro) c.611A>C (p.His204Pro) n.782A>C | |
15 | g.43253582T= | CA2173102976 | TGM5 | c.608A= (p.His203=) n.77A= c.362A= (p.His121=) c.605A= (p.His202=) c.359A= (p.His120=) c.611A= (p.His204=) n.782A= | |
15 | g.43253583G>A | CA7521285 | TGM5 | c.607C>T (p.His203Tyr) n.76C>T c.361C>T (p.His121Tyr) c.604C>T (p.His202Tyr) c.358C>T (p.His120Tyr) c.610C>T (p.His204Tyr) n.781C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253583G>C | CA392101128 | TGM5 | c.607C>G (p.His203Asp) n.76C>G c.361C>G (p.His121Asp) c.604C>G (p.His202Asp) c.358C>G (p.His120Asp) c.610C>G (p.His204Asp) n.781C>G | |
15 | g.43253583G= | CA2173102977 | TGM5 | c.607C= (p.His203=) n.76C= c.361C= (p.His121=) c.604C= (p.His202=) c.358C= (p.His120=) c.610C= (p.His204=) n.781C= | |
15 | g.43253583G>T | CA7521284 | TGM5 | c.607C>A (p.His203Asn) n.76C>A c.361C>A (p.His121Asn) c.604C>A (p.His202Asn) c.358C>A (p.His120Asn) c.610C>A (p.His204Asn) n.781C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253584C>A | CA490131764 | TGM5 | c.606G>T (p.Leu202=) n.75G>T c.360G>T (p.Leu120=) c.603G>T (p.Leu201=) c.357G>T (p.Leu119=) c.609G>T (p.Leu203=) n.780G>T | |
15 | g.43253584C= | CA2173102978 | TGM5 | c.606G= (p.Leu202=) n.75G= c.360G= (p.Leu120=) c.603G= (p.Leu201=) c.357G= (p.Leu119=) c.609G= (p.Leu203=) n.780G= | |
15 | g.43253584C>G | CA490131765 | TGM5 | c.606G>C (p.Leu202=) n.75G>C c.360G>C (p.Leu120=) c.603G>C (p.Leu201=) c.357G>C (p.Leu119=) c.609G>C (p.Leu203=) n.780G>C | |
15 | g.43253584C>T | CA269976167 | TGM5 | c.606G>A (p.Leu202=) n.75G>A c.360G>A (p.Leu120=) c.603G>A (p.Leu201=) c.357G>A (p.Leu119=) c.609G>A (p.Leu203=) n.780G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253585A>C | CA392101140 | TGM5 | c.605T>G (p.Leu202Arg) n.74T>G c.359T>G (p.Leu120Arg) c.602T>G (p.Leu201Arg) c.356T>G (p.Leu119Arg) c.608T>G (p.Leu203Arg) n.779T>G | |
15 | g.43253585A>G | CA392101146 | TGM5 | c.605T>C (p.Leu202Pro) n.74T>C c.359T>C (p.Leu120Pro) c.602T>C (p.Leu201Pro) c.356T>C (p.Leu119Pro) c.608T>C (p.Leu203Pro) n.779T>C | |
15 | g.43253585A>T | CA392101149 | TGM5 | c.605T>A (p.Leu202Gln) n.74T>A c.359T>A (p.Leu120Gln) c.602T>A (p.Leu201Gln) c.356T>A (p.Leu119Gln) c.608T>A (p.Leu203Gln) n.779T>A | |
15 | g.43253586G>A | CA490131766 | TGM5 | c.604C>T (p.Leu202=) n.73C>T c.358C>T (p.Leu120=) c.601C>T (p.Leu201=) c.355C>T (p.Leu119=) c.607C>T (p.Leu203=) n.778C>T | gnomAD v4 |
15 | g.43253586G>C | CA392101153 | TGM5 | c.604C>G (p.Leu202Val) n.73C>G c.358C>G (p.Leu120Val) c.601C>G (p.Leu201Val) c.355C>G (p.Leu119Val) c.607C>G (p.Leu203Val) n.778C>G | |
15 | g.43253586G>T | CA392101154 | TGM5 | c.604C>A (p.Leu202Met) n.73C>A c.358C>A (p.Leu120Met) c.601C>A (p.Leu201Met) c.355C>A (p.Leu119Met) c.607C>A (p.Leu203Met) n.778C>A | |
15 | g.43253587G>A | CA490131768 | TGM5 | c.603C>T (p.Ser201=) n.72C>T c.357C>T (p.Ser119=) c.600C>T (p.Ser200=) c.354C>T (p.Ser118=) c.606C>T (p.Ser202=) n.777C>T | |
15 | g.43253587G>C | CA392101156 | TGM5 | c.603C>G (p.Ser201Arg) n.72C>G c.357C>G (p.Ser119Arg) c.600C>G (p.Ser200Arg) c.354C>G (p.Ser118Arg) c.606C>G (p.Ser202Arg) n.777C>G | |
15 | g.43253587G>T | CA392101157 | TGM5 | c.603C>A (p.Ser201Arg) n.72C>A c.357C>A (p.Ser119Arg) c.600C>A (p.Ser200Arg) c.354C>A (p.Ser118Arg) c.606C>A (p.Ser202Arg) n.777C>A | gnomAD v4 |
15 | g.43253588C>A | CA392101163 | TGM5 | c.602G>T (p.Ser201Ile) n.71G>T c.356G>T (p.Ser119Ile) c.599G>T (p.Ser200Ile) c.353G>T (p.Ser118Ile) c.605G>T (p.Ser202Ile) n.776G>T | |
15 | g.43253588C>G | CA392101166 | TGM5 | c.602G>C (p.Ser201Thr) n.71G>C c.356G>C (p.Ser119Thr) c.599G>C (p.Ser200Thr) c.353G>C (p.Ser118Thr) c.605G>C (p.Ser202Thr) n.776G>C | |
15 | g.43253588C>T | CA392101172 | TGM5 | c.602G>A (p.Ser201Asn) n.71G>A c.356G>A (p.Ser119Asn) c.599G>A (p.Ser200Asn) c.353G>A (p.Ser118Asn) c.605G>A (p.Ser202Asn) n.776G>A | |
15 | g.43253589T>A | CA392101176 | TGM5 | c.601A>T (p.Ser201Cys) n.70A>T c.355A>T (p.Ser119Cys) c.598A>T (p.Ser200Cys) c.352A>T (p.Ser118Cys) c.604A>T (p.Ser202Cys) n.775A>T | |
15 | g.43253589T>C | CA392101178 | TGM5 | c.601A>G (p.Ser201Gly) n.70A>G c.355A>G (p.Ser119Gly) c.598A>G (p.Ser200Gly) c.352A>G (p.Ser118Gly) c.604A>G (p.Ser202Gly) n.775A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43253589T>G | CA392101179 | TGM5 | c.601A>C (p.Ser201Arg) n.70A>C c.355A>C (p.Ser119Arg) c.598A>C (p.Ser200Arg) c.352A>C (p.Ser118Arg) c.604A>C (p.Ser202Arg) n.775A>C | gnomAD v4 |
15 | g.43253589T= | CA2173102979 | TGM5 | c.601A= (p.Ser201=) n.70A= c.355A= (p.Ser119=) c.598A= (p.Ser200=) c.352A= (p.Ser118=) c.604A= (p.Ser202=) n.775A= | |
15 | g.43253590C>A | CA392101181 | TGM5 | c.600G>T (p.Lys200Asn) n.69G>T c.354G>T (p.Lys118Asn) c.597G>T (p.Lys199Asn) c.351G>T (p.Lys117Asn) c.603G>T (p.Lys201Asn) n.774G>T | |
15 | g.43253590C= | CA2173102980 | TGM5 | c.600G= (p.Lys200=) n.69G= c.354G= (p.Lys118=) c.597G= (p.Lys199=) c.351G= (p.Lys117=) c.603G= (p.Lys201=) n.774G= | |
15 | g.43253590C>G | CA7521286 | TGM5 | c.600G>C (p.Lys200Asn) n.69G>C c.354G>C (p.Lys118Asn) c.597G>C (p.Lys199Asn) c.351G>C (p.Lys117Asn) c.603G>C (p.Lys201Asn) n.774G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253590C>T | CA490131770 | TGM5 | c.600G>A (p.Lys200=) n.69G>A c.354G>A (p.Lys118=) c.597G>A (p.Lys199=) c.351G>A (p.Lys117=) c.603G>A (p.Lys201=) n.774G>A | dbSNP gnomAD v4 |
15 | g.43253591T>A | CA392101191 | TGM5 | c.599A>T (p.Lys200Met) n.68A>T c.353A>T (p.Lys118Met) c.596A>T (p.Lys199Met) c.350A>T (p.Lys117Met) c.602A>T (p.Lys201Met) n.773A>T | |
15 | g.43253591T>C | CA392101192 | TGM5 | c.599A>G (p.Lys200Arg) n.68A>G c.353A>G (p.Lys118Arg) c.596A>G (p.Lys199Arg) c.350A>G (p.Lys117Arg) c.602A>G (p.Lys201Arg) n.773A>G | |
15 | g.43253591T>G | CA392101194 | TGM5 | c.599A>C (p.Lys200Thr) n.68A>C c.353A>C (p.Lys118Thr) c.596A>C (p.Lys199Thr) c.350A>C (p.Lys117Thr) c.602A>C (p.Lys201Thr) n.773A>C | |
15 | g.43253592T>A | CA392101201 | TGM5 | c.598A>T (p.Lys200Ter) n.67A>T c.352A>T (p.Lys118Ter) c.595A>T (p.Lys199Ter) c.349A>T (p.Lys117Ter) c.601A>T (p.Lys201Ter) n.772A>T | |
15 | g.43253592T>C | CA392101197 | TGM5 | c.598A>G (p.Lys200Glu) n.67A>G c.352A>G (p.Lys118Glu) c.595A>G (p.Lys199Glu) c.349A>G (p.Lys117Glu) c.601A>G (p.Lys201Glu) n.772A>G | |
15 | g.43253592T>G | CA392101199 | TGM5 | c.598A>C (p.Lys200Gln) n.67A>C c.352A>C (p.Lys118Gln) c.595A>C (p.Lys199Gln) c.349A>C (p.Lys117Gln) c.601A>C (p.Lys201Gln) n.772A>C | |
15 | g.43253593G>A | CA490131773 | TGM5 | c.597C>T (p.Asp199=) n.66C>T c.351C>T (p.Asp117=) c.594C>T (p.Asp198=) c.348C>T (p.Asp116=) c.600C>T (p.Asp200=) n.771C>T | |
15 | g.43253593G>C | CA392101204 | TGM5 | c.597C>G (p.Asp199Glu) n.66C>G c.351C>G (p.Asp117Glu) c.594C>G (p.Asp198Glu) c.348C>G (p.Asp116Glu) c.600C>G (p.Asp200Glu) n.771C>G | |
15 | g.43253593G>T | CA392101207 | TGM5 | c.597C>A (p.Asp199Glu) n.66C>A c.351C>A (p.Asp117Glu) c.594C>A (p.Asp198Glu) c.348C>A (p.Asp116Glu) c.600C>A (p.Asp200Glu) n.771C>A | |
15 | g.43253594T>A | CA392101212 | TGM5 | c.596A>T (p.Asp199Val) n.65A>T c.350A>T (p.Asp117Val) c.593A>T (p.Asp198Val) c.347A>T (p.Asp116Val) c.599A>T (p.Asp200Val) n.770A>T | |
15 | g.43253594T>C | CA392101215 | TGM5 | c.596A>G (p.Asp199Gly) n.65A>G c.350A>G (p.Asp117Gly) c.593A>G (p.Asp198Gly) c.347A>G (p.Asp116Gly) c.599A>G (p.Asp200Gly) n.770A>G | |
15 | g.43253594T>G | CA392101217 | TGM5 | c.596A>C (p.Asp199Ala) n.65A>C c.350A>C (p.Asp117Ala) c.593A>C (p.Asp198Ala) c.347A>C (p.Asp116Ala) c.599A>C (p.Asp200Ala) n.770A>C | |
15 | g.43253595C>A | CA392101222 | TGM5 | c.595G>T (p.Asp199Tyr) n.64G>T c.349G>T (p.Asp117Tyr) c.592G>T (p.Asp198Tyr) c.346G>T (p.Asp116Tyr) c.598G>T (p.Asp200Tyr) n.769G>T | |
15 | g.43253595C>G | CA392101226 | TGM5 | c.595G>C (p.Asp199His) n.64G>C c.349G>C (p.Asp117His) c.592G>C (p.Asp198His) c.346G>C (p.Asp116His) c.598G>C (p.Asp200His) n.769G>C | |
15 | g.43253595C>T | CA392101227 | TGM5 | c.595G>A (p.Asp199Asn) n.64G>A c.349G>A (p.Asp117Asn) c.592G>A (p.Asp198Asn) c.346G>A (p.Asp116Asn) c.598G>A (p.Asp200Asn) n.769G>A | gnomAD v4 |
15 | g.43253596T>A | CA490131774 | TGM5 | c.594A>T (p.Leu198=) n.63A>T c.348A>T (p.Leu116=) c.591A>T (p.Leu197=) c.345A>T (p.Leu115=) c.597A>T (p.Leu199=) n.768A>T | |
15 | g.43253596T>C | CA7521287 | TGM5 | c.594A>G (p.Leu198=) n.63A>G c.348A>G (p.Leu116=) c.591A>G (p.Leu197=) c.345A>G (p.Leu115=) c.597A>G (p.Leu199=) n.768A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253596T>G | CA490131775 | TGM5 | c.594A>C (p.Leu198=) n.63A>C c.348A>C (p.Leu116=) c.591A>C (p.Leu197=) c.345A>C (p.Leu115=) c.597A>C (p.Leu199=) n.768A>C | |
15 | g.43253596T= | CA2173102981 | TGM5 | c.594A= (p.Leu198=) n.63A= c.348A= (p.Leu116=) c.591A= (p.Leu197=) c.345A= (p.Leu115=) c.597A= (p.Leu199=) n.768A= | |
15 | g.43253597A>C | CA392101243 | TGM5 | c.593T>G (p.Leu198Arg) n.62T>G c.347T>G (p.Leu116Arg) c.590T>G (p.Leu197Arg) c.344T>G (p.Leu115Arg) c.596T>G (p.Leu199Arg) n.767T>G | |
15 | g.43253597A>G | CA392101244 | TGM5 | c.593T>C (p.Leu198Pro) n.62T>C c.347T>C (p.Leu116Pro) c.590T>C (p.Leu197Pro) c.344T>C (p.Leu115Pro) c.596T>C (p.Leu199Pro) n.767T>C | |
15 | g.43253597A>T | CA392101245 | TGM5 | c.593T>A (p.Leu198Gln) n.62T>A c.347T>A (p.Leu116Gln) c.590T>A (p.Leu197Gln) c.344T>A (p.Leu115Gln) c.596T>A (p.Leu199Gln) n.767T>A | |
15 | g.43253598G>A | CA490131776 | TGM5 | c.592C>T (p.Leu198=) n.61C>T c.346C>T (p.Leu116=) c.589C>T (p.Leu197=) c.343C>T (p.Leu115=) c.595C>T (p.Leu199=) n.766C>T | gnomAD v4 |
15 | g.43253598G>C | CA7521288 | TGM5 | c.592C>G (p.Leu198Val) n.61C>G c.346C>G (p.Leu116Val) c.589C>G (p.Leu197Val) c.343C>G (p.Leu115Val) c.595C>G (p.Leu199Val) n.766C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253598G= | CA2173102982 | TGM5 | c.592C= (p.Leu198=) n.61C= c.346C= (p.Leu116=) c.589C= (p.Leu197=) c.343C= (p.Leu115=) c.595C= (p.Leu199=) n.766C= | |
15 | g.43253598G>T | CA392101248 | TGM5 | c.592C>A (p.Leu198Ile) n.61C>A c.346C>A (p.Leu116Ile) c.589C>A (p.Leu197Ile) c.343C>A (p.Leu115Ile) c.595C>A (p.Leu199Ile) n.766C>A | gnomAD v4 |
15 | g.43253599C>A | CA490131778 | TGM5 | c.591G>T (p.Leu197=) n.60G>T c.345G>T (p.Leu115=) c.588G>T (p.Leu196=) c.342G>T (p.Leu114=) c.594G>T (p.Leu198=) n.765G>T | dbSNP |
15 | g.43253599C= | CA2173102983 | TGM5 | c.591G= (p.Leu197=) n.60G= c.345G= (p.Leu115=) c.588G= (p.Leu196=) c.342G= (p.Leu114=) c.594G= (p.Leu198=) n.765G= | |
15 | g.43253599C>G | CA490131777 | TGM5 | c.591G>C (p.Leu197=) n.60G>C c.345G>C (p.Leu115=) c.588G>C (p.Leu196=) c.342G>C (p.Leu114=) c.594G>C (p.Leu198=) n.765G>C | |
15 | g.43253599C>T | CA490131779 | TGM5 | c.591G>A (p.Leu197=) n.60G>A c.345G>A (p.Leu115=) c.588G>A (p.Leu196=) c.342G>A (p.Leu114=) c.594G>A (p.Leu198=) n.765G>A | |
15 | g.43253600A>C | CA392101251 | TGM5 | c.590T>G (p.Leu197Arg) n.59T>G c.344T>G (p.Leu115Arg) c.587T>G (p.Leu196Arg) c.341T>G (p.Leu114Arg) c.593T>G (p.Leu198Arg) n.764T>G | |
15 | g.43253600A>G | CA392101259 | TGM5 | c.590T>C (p.Leu197Pro) n.59T>C c.344T>C (p.Leu115Pro) c.587T>C (p.Leu196Pro) c.341T>C (p.Leu114Pro) c.593T>C (p.Leu198Pro) n.764T>C | |
15 | g.43253600A>T | CA392101254 | TGM5 | c.590T>A (p.Leu197Gln) n.59T>A c.344T>A (p.Leu115Gln) c.587T>A (p.Leu196Gln) c.341T>A (p.Leu114Gln) c.593T>A (p.Leu198Gln) n.764T>A | |
15 | g.43253601G>A | CA7521289 | TGM5 | c.589C>T (p.Leu197=) n.58C>T c.343C>T (p.Leu115=) c.586C>T (p.Leu196=) c.340C>T (p.Leu114=) c.592C>T (p.Leu198=) n.763C>T | dbSNP ExAC gnomAD v2 |
15 | g.43253601G>C | CA392101274 | TGM5 | c.589C>G (p.Leu197Val) n.58C>G c.343C>G (p.Leu115Val) c.586C>G (p.Leu196Val) c.340C>G (p.Leu114Val) c.592C>G (p.Leu198Val) n.763C>G | |
15 | g.43253601G= | CA2173102984 | TGM5 | c.589C= (p.Leu197=) n.58C= c.343C= (p.Leu115=) c.586C= (p.Leu196=) c.340C= (p.Leu114=) c.592C= (p.Leu198=) n.763C= | |
15 | g.43253601G>T | CA392101269 | TGM5 | c.589C>A (p.Leu197Met) n.58C>A c.343C>A (p.Leu115Met) c.586C>A (p.Leu196Met) c.340C>A (p.Leu114Met) c.592C>A (p.Leu198Met) n.763C>A | gnomAD v4 |
15 | g.43253602C>A | CA392101281 | TGM5 | c.588G>T (p.Lys196Asn) n.57G>T c.342G>T (p.Lys114Asn) c.585G>T (p.Lys195Asn) c.339G>T (p.Lys113Asn) c.591G>T (p.Lys197Asn) n.762G>T | |
15 | g.43253602C= | CA2173102985 | TGM5 | c.588G= (p.Lys196=) n.57G= c.342G= (p.Lys114=) c.585G= (p.Lys195=) c.339G= (p.Lys113=) c.591G= (p.Lys197=) n.762G= | |
15 | g.43253602C>G | CA392101284 | TGM5 | c.588G>C (p.Lys196Asn) n.57G>C c.342G>C (p.Lys114Asn) c.585G>C (p.Lys195Asn) c.339G>C (p.Lys113Asn) c.591G>C (p.Lys197Asn) n.762G>C | |
15 | g.43253602C>T | CA269976176 | TGM5 | c.588G>A (p.Lys196=) n.57G>A c.342G>A (p.Lys114=) c.585G>A (p.Lys195=) c.339G>A (p.Lys113=) c.591G>A (p.Lys197=) n.762G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43253603T>A | CA392101289 | TGM5 | c.587A>T (p.Lys196Met) n.56A>T c.341A>T (p.Lys114Met) c.584A>T (p.Lys195Met) c.338A>T (p.Lys113Met) c.590A>T (p.Lys197Met) n.761A>T | |
15 | g.43253603T>C | CA392101302 | TGM5 | c.587A>G (p.Lys196Arg) n.56A>G c.341A>G (p.Lys114Arg) c.584A>G (p.Lys195Arg) c.338A>G (p.Lys113Arg) c.590A>G (p.Lys197Arg) n.761A>G | |
15 | g.43253603T>G | CA392101305 | TGM5 | c.587A>C (p.Lys196Thr) n.56A>C c.341A>C (p.Lys114Thr) c.584A>C (p.Lys195Thr) c.338A>C (p.Lys113Thr) c.590A>C (p.Lys197Thr) n.761A>C | |
15 | g.43253604del | CA2841618293 | TGM5 | c.587del (p.Lys196SerfsTer3) n.56del c.341del (p.Lys114SerfsTer3) c.584del (p.Lys195SerfsTer3) c.338del (p.Lys113SerfsTer3) c.590del (p.Lys197SerfsTer3) n.761del | |
15 | g.43253604T>A | CA392101313 | TGM5 | c.586A>T (p.Lys196Ter) n.55A>T c.340A>T (p.Lys114Ter) c.583A>T (p.Lys195Ter) c.337A>T (p.Lys113Ter) c.589A>T (p.Lys197Ter) n.760A>T | |
15 | g.43253604T>C | CA392101314 | TGM5 | c.586A>G (p.Lys196Glu) n.55A>G c.340A>G (p.Lys114Glu) c.583A>G (p.Lys195Glu) c.337A>G (p.Lys113Glu) c.589A>G (p.Lys197Glu) n.760A>G | |
15 | g.43253604T>G | CA392101315 | TGM5 | c.586A>C (p.Lys196Gln) n.55A>C c.340A>C (p.Lys114Gln) c.583A>C (p.Lys195Gln) c.337A>C (p.Lys113Gln) c.589A>C (p.Lys197Gln) n.760A>C | |
15 | g.43253605C>A | CA490131780 | TGM5 | c.585G>T (p.Leu195=) n.54G>T c.339G>T (p.Leu113=) c.582G>T (p.Leu194=) c.336G>T (p.Leu112=) c.588G>T (p.Leu196=) n.759G>T | |
15 | g.43253605C= | CA2173102986 | TGM5 | c.585G= (p.Leu195=) n.54G= c.339G= (p.Leu113=) c.582G= (p.Leu194=) c.336G= (p.Leu112=) c.588G= (p.Leu196=) n.759G= | |
15 | g.43253605C>G | CA490131781 | TGM5 | c.585G>C (p.Leu195=) n.54G>C c.339G>C (p.Leu113=) c.582G>C (p.Leu194=) c.336G>C (p.Leu112=) c.588G>C (p.Leu196=) n.759G>C | |
15 | g.43253605C>T | CA7521290 | TGM5 | c.585G>A (p.Leu195=) n.54G>A c.339G>A (p.Leu113=) c.582G>A (p.Leu194=) c.336G>A (p.Leu112=) c.588G>A (p.Leu196=) n.759G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253606A>C | CA392101319 | TGM5 | c.584T>G (p.Leu195Arg) n.53T>G c.338T>G (p.Leu113Arg) c.581T>G (p.Leu194Arg) c.335T>G (p.Leu112Arg) c.587T>G (p.Leu196Arg) n.758T>G | |
15 | g.43253606A>G | CA392101321 | TGM5 | c.584T>C (p.Leu195Pro) n.53T>C c.338T>C (p.Leu113Pro) c.581T>C (p.Leu194Pro) c.335T>C (p.Leu112Pro) c.587T>C (p.Leu196Pro) n.758T>C | |
15 | g.43253606A>T | CA392101326 | TGM5 | c.584T>A (p.Leu195Gln) n.53T>A c.338T>A (p.Leu113Gln) c.581T>A (p.Leu194Gln) c.335T>A (p.Leu112Gln) c.587T>A (p.Leu196Gln) n.758T>A | |
15 | g.43253607G>A | CA490131782 | TGM5 | c.583C>T (p.Leu195=) n.52C>T c.337C>T (p.Leu113=) c.580C>T (p.Leu194=) c.334C>T (p.Leu112=) c.586C>T (p.Leu196=) n.757C>T | |
15 | g.43253607G>C | CA392101334 | TGM5 | c.583C>G (p.Leu195Val) n.52C>G c.337C>G (p.Leu113Val) c.580C>G (p.Leu194Val) c.334C>G (p.Leu112Val) c.586C>G (p.Leu196Val) n.757C>G | |
15 | g.43253607G>T | CA392101331 | TGM5 | c.583C>A (p.Leu195Met) n.52C>A c.337C>A (p.Leu113Met) c.580C>A (p.Leu194Met) c.334C>A (p.Leu112Met) c.586C>A (p.Leu196Met) n.757C>A | |
15 | g.43253608G>A | CA490131783 | TGM5 | c.582C>T (p.Cys194=) n.51C>T c.336C>T (p.Cys112=) c.579C>T (p.Cys193=) c.333C>T (p.Cys111=) c.585C>T (p.Cys195=) n.756C>T | |
15 | g.43253608G>C | CA392101338 | TGM5 | c.582C>G (p.Cys194Trp) n.51C>G c.336C>G (p.Cys112Trp) c.579C>G (p.Cys193Trp) c.333C>G (p.Cys111Trp) c.585C>G (p.Cys195Trp) n.756C>G | |
15 | g.43253608G= | CA2173102987 | TGM5 | c.582C= (p.Cys194=) n.51C= c.336C= (p.Cys112=) c.579C= (p.Cys193=) c.333C= (p.Cys111=) c.585C= (p.Cys195=) n.756C= | |
15 | g.43253608G>T | CA392101340 | TGM5 | c.582C>A (p.Cys194Ter) n.51C>A c.336C>A (p.Cys112Ter) c.579C>A (p.Cys193Ter) c.333C>A (p.Cys111Ter) c.585C>A (p.Cys195Ter) n.756C>A | dbSNP gnomAD v4 |
15 | g.43253609C>A | CA392101343 | TGM5 | c.581G>T (p.Cys194Phe) n.50G>T c.335G>T (p.Cys112Phe) c.578G>T (p.Cys193Phe) c.332G>T (p.Cys111Phe) c.584G>T (p.Cys195Phe) n.755G>T | |
15 | g.43253609C>G | CA392101346 | TGM5 | c.581G>C (p.Cys194Ser) n.50G>C c.335G>C (p.Cys112Ser) c.578G>C (p.Cys193Ser) c.332G>C (p.Cys111Ser) c.584G>C (p.Cys195Ser) n.755G>C | |
15 | g.43253609C>T | CA392101348 | TGM5 | c.581G>A (p.Cys194Tyr) n.50G>A c.335G>A (p.Cys112Tyr) c.578G>A (p.Cys193Tyr) c.332G>A (p.Cys111Tyr) c.584G>A (p.Cys195Tyr) n.755G>A | |
15 | g.43253610A= | CA2173102988 | TGM5 | c.580T= (p.Cys194=) n.49T= c.334T= (p.Cys112=) c.577T= (p.Cys193=) c.331T= (p.Cys111=) c.583T= (p.Cys195=) n.754T= | |
15 | g.43253610A>C | CA392101355 | TGM5 | c.580T>G (p.Cys194Gly) n.49T>G c.334T>G (p.Cys112Gly) c.577T>G (p.Cys193Gly) c.331T>G (p.Cys111Gly) c.583T>G (p.Cys195Gly) n.754T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.43253610A>G | CA392101359 | TGM5 | c.580T>C (p.Cys194Arg) n.49T>C c.334T>C (p.Cys112Arg) c.577T>C (p.Cys193Arg) c.331T>C (p.Cys111Arg) c.583T>C (p.Cys195Arg) n.754T>C | |
15 | g.43253610A>T | CA392101361 | TGM5 | c.580T>A (p.Cys194Ser) n.49T>A c.334T>A (p.Cys112Ser) c.577T>A (p.Cys193Ser) c.331T>A (p.Cys111Ser) c.583T>A (p.Cys195Ser) n.754T>A | |
15 | g.43253611G>A | CA490131784 | TGM5 | c.579C>T (p.Ile193=) n.48C>T c.333C>T (p.Ile111=) c.576C>T (p.Ile192=) c.330C>T (p.Ile110=) c.582C>T (p.Ile194=) n.753C>T | |
15 | g.43253611G>C | CA392101363 | TGM5 | c.579C>G (p.Ile193Met) n.48C>G c.333C>G (p.Ile111Met) c.576C>G (p.Ile192Met) c.330C>G (p.Ile110Met) c.582C>G (p.Ile194Met) n.753C>G | |
15 | g.43253611G>T | CA490131785 | TGM5 | c.579C>A (p.Ile193=) n.48C>A c.333C>A (p.Ile111=) c.576C>A (p.Ile192=) c.330C>A (p.Ile110=) c.582C>A (p.Ile194=) n.753C>A | gnomAD v4 |
15 | g.43253612A= | CA2173102989 | TGM5 | c.578T= (p.Ile193=) n.47T= c.332T= (p.Ile111=) c.575T= (p.Ile192=) c.329T= (p.Ile110=) c.581T= (p.Ile194=) n.752T= | |
15 | g.43253612A>C | CA392101368 | TGM5 | c.578T>G (p.Ile193Ser) n.47T>G c.332T>G (p.Ile111Ser) c.575T>G (p.Ile192Ser) c.329T>G (p.Ile110Ser) c.581T>G (p.Ile194Ser) n.752T>G | |
15 | g.43253612A>G | CA392101371 | TGM5 | c.578T>C (p.Ile193Thr) n.47T>C c.332T>C (p.Ile111Thr) c.575T>C (p.Ile192Thr) c.329T>C (p.Ile110Thr) c.581T>C (p.Ile194Thr) n.752T>C | dbSNP gnomAD v2 |
15 | g.43253612A>T | CA392101376 | TGM5 | c.578T>A (p.Ile193Asn) n.47T>A c.332T>A (p.Ile111Asn) c.575T>A (p.Ile192Asn) c.329T>A (p.Ile110Asn) c.581T>A (p.Ile194Asn) n.752T>A | gnomAD v4 |
15 | g.43253613T>A | CA392101387 | TGM5 | c.577A>T (p.Ile193Phe) n.46A>T c.331A>T (p.Ile111Phe) c.574A>T (p.Ile192Phe) c.328A>T (p.Ile110Phe) c.580A>T (p.Ile194Phe) n.751A>T | |
15 | g.43253613T>C | CA392101384 | TGM5 | c.577A>G (p.Ile193Val) n.46A>G c.331A>G (p.Ile111Val) c.574A>G (p.Ile192Val) c.328A>G (p.Ile110Val) c.580A>G (p.Ile194Val) n.751A>G | |
15 | g.43253613T>G | CA392101381 | TGM5 | c.577A>C (p.Ile193Leu) n.46A>C c.331A>C (p.Ile111Leu) c.574A>C (p.Ile192Leu) c.328A>C (p.Ile110Leu) c.580A>C (p.Ile194Leu) n.751A>C | |
15 | g.43253614G>A | CA490131786 | TGM5 | c.576C>T (p.Asp192=) n.45C>T c.330C>T (p.Asp110=) c.573C>T (p.Asp191=) c.327C>T (p.Asp109=) c.579C>T (p.Asp193=) n.750C>T | gnomAD v4 |
15 | g.43253614G>C | CA392101393 | TGM5 | c.576C>G (p.Asp192Glu) n.45C>G c.330C>G (p.Asp110Glu) c.573C>G (p.Asp191Glu) c.327C>G (p.Asp109Glu) c.579C>G (p.Asp193Glu) n.750C>G | |
15 | g.43253614G>T | CA392101392 | TGM5 | c.576C>A (p.Asp192Glu) n.45C>A c.330C>A (p.Asp110Glu) c.573C>A (p.Asp191Glu) c.327C>A (p.Asp109Glu) c.579C>A (p.Asp193Glu) n.750C>A | |
15 | g.43253615T>A | CA7521291 | TGM5 | c.575A>T (p.Asp192Val) n.44A>T c.329A>T (p.Asp110Val) c.572A>T (p.Asp191Val) c.326A>T (p.Asp109Val) c.578A>T (p.Asp193Val) n.749A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253615T>C | CA392101396 | TGM5 | c.575A>G (p.Asp192Gly) n.44A>G c.329A>G (p.Asp110Gly) c.572A>G (p.Asp191Gly) c.326A>G (p.Asp109Gly) c.578A>G (p.Asp193Gly) n.749A>G | |
15 | g.43253615T>G | CA392101398 | TGM5 | c.575A>C (p.Asp192Ala) n.44A>C c.329A>C (p.Asp110Ala) c.572A>C (p.Asp191Ala) c.326A>C (p.Asp109Ala) c.578A>C (p.Asp193Ala) n.749A>C | gnomAD v4 |
15 | g.43253615T= | CA2173102990 | TGM5 | c.575A= (p.Asp192=) n.44A= c.329A= (p.Asp110=) c.572A= (p.Asp191=) c.326A= (p.Asp109=) c.578A= (p.Asp193=) n.749A= | |
15 | g.43253616C>A | CA392101402 | TGM5 | c.574G>T (p.Asp192Tyr) n.43G>T c.328G>T (p.Asp110Tyr) c.571G>T (p.Asp191Tyr) c.325G>T (p.Asp109Tyr) c.577G>T (p.Asp193Tyr) n.748G>T | |
15 | g.43253616C= | CA2173102991 | TGM5 | c.574G= (p.Asp192=) n.43G= c.328G= (p.Asp110=) c.571G= (p.Asp191=) c.325G= (p.Asp109=) c.577G= (p.Asp193=) n.748G= | |
15 | g.43253616C>G | CA392101406 | TGM5 | c.574G>C (p.Asp192His) n.43G>C c.328G>C (p.Asp110His) c.571G>C (p.Asp191His) c.325G>C (p.Asp109His) c.577G>C (p.Asp193His) n.748G>C | |
15 | g.43253616C>T | CA392101409 | TGM5 | c.574G>A (p.Asp192Asn) n.43G>A c.328G>A (p.Asp110Asn) c.571G>A (p.Asp191Asn) c.325G>A (p.Asp109Asn) c.577G>A (p.Asp193Asn) n.748G>A | gnomAD v4 |
15 | g.43253617T>A | CA490131787 | TGM5 | c.573A>T (p.Ile191=) n.42A>T c.327A>T (p.Ile109=) c.570A>T (p.Ile190=) c.324A>T (p.Ile108=) c.576A>T (p.Ile192=) n.747A>T | |
15 | g.43253617T>C | CA392101417 | TGM5 | c.573A>G (p.Ile191Met) n.42A>G c.327A>G (p.Ile109Met) c.570A>G (p.Ile190Met) c.324A>G (p.Ile108Met) c.576A>G (p.Ile192Met) n.747A>G | |
15 | g.43253617T>G | CA490131788 | TGM5 | c.573A>C (p.Ile191=) n.42A>C c.327A>C (p.Ile109=) c.570A>C (p.Ile190=) c.324A>C (p.Ile108=) c.576A>C (p.Ile192=) n.747A>C | |
15 | g.43253617dup | CA392101414 | TGM5 | c.573dup (p.Asp192ArgfsTer16) n.42dup c.327dup (p.Asp110ArgfsTer16) c.570dup (p.Asp191ArgfsTer16) c.324dup (p.Asp109ArgfsTer16) c.576dup (p.Asp193ArgfsTer16) n.747dup | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43253618A= | CA2173102992 | TGM5 | c.572T= (p.Ile191=) n.41T= c.326T= (p.Ile109=) c.569T= (p.Ile190=) c.323T= (p.Ile108=) c.575T= (p.Ile192=) n.746T= | |
15 | g.43253618A>C | CA392101434 | TGM5 | c.572T>G (p.Ile191Arg) n.41T>G c.326T>G (p.Ile109Arg) c.569T>G (p.Ile190Arg) c.323T>G (p.Ile108Arg) c.575T>G (p.Ile192Arg) n.746T>G | |
15 | g.43253618A>G | CA392101439 | TGM5 | c.572T>C (p.Ile191Thr) n.41T>C c.326T>C (p.Ile109Thr) c.569T>C (p.Ile190Thr) c.323T>C (p.Ile108Thr) c.575T>C (p.Ile192Thr) n.746T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253618A>T | CA392101442 | TGM5 | c.572T>A (p.Ile191Lys) n.41T>A c.326T>A (p.Ile109Lys) c.569T>A (p.Ile190Lys) c.323T>A (p.Ile108Lys) c.575T>A (p.Ile192Lys) n.746T>A | |
15 | g.43253619T>A | CA392101461 | TGM5 | c.571A>T (p.Ile191Leu) n.40A>T c.325A>T (p.Ile109Leu) c.568A>T (p.Ile190Leu) c.322A>T (p.Ile108Leu) c.574A>T (p.Ile192Leu) n.745A>T | |
15 | g.43253619T>C | CA7521292 | TGM5 | c.571A>G (p.Ile191Val) n.40A>G c.325A>G (p.Ile109Val) c.568A>G (p.Ile190Val) c.322A>G (p.Ile108Val) c.574A>G (p.Ile192Val) n.745A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253619T>G | CA392101445 | TGM5 | c.571A>C (p.Ile191Leu) n.40A>C c.325A>C (p.Ile109Leu) c.568A>C (p.Ile190Leu) c.322A>C (p.Ile108Leu) c.574A>C (p.Ile192Leu) n.745A>C | |
15 | g.43253619T= | CA2173102993 | TGM5 | c.571A= (p.Ile191=) n.40A= c.325A= (p.Ile109=) c.568A= (p.Ile190=) c.322A= (p.Ile108=) c.574A= (p.Ile192=) n.745A= | |
15 | g.43253620G>A | CA7521293 | TGM5 | c.570C>T (p.Ile190=) n.39C>T c.324C>T (p.Ile108=) c.567C>T (p.Ile189=) c.321C>T (p.Ile107=) c.573C>T (p.Ile191=) n.744C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253620G>C | CA392101470 | TGM5 | c.570C>G (p.Ile190Met) n.39C>G c.324C>G (p.Ile108Met) c.567C>G (p.Ile189Met) c.321C>G (p.Ile107Met) c.573C>G (p.Ile191Met) n.744C>G | gnomAD v4 |
15 | g.43253620G= | CA2173102994 | TGM5 | c.570C= (p.Ile190=) n.39C= c.324C= (p.Ile108=) c.567C= (p.Ile189=) c.321C= (p.Ile107=) c.573C= (p.Ile191=) n.744C= | |
15 | g.43253620G>T | CA490131790 | TGM5 | c.570C>A (p.Ile190=) n.39C>A c.324C>A (p.Ile108=) c.567C>A (p.Ile189=) c.321C>A (p.Ile107=) c.573C>A (p.Ile191=) n.744C>A | gnomAD v4 |
15 | g.43253621A= | CA2173102995 | TGM5 | c.569T= (p.Ile190=) n.38T= c.323T= (p.Ile108=) c.566T= (p.Ile189=) c.320T= (p.Ile107=) c.572T= (p.Ile191=) n.743T= | |
15 | g.43253621A>C | CA392101476 | TGM5 | c.569T>G (p.Ile190Ser) n.38T>G c.323T>G (p.Ile108Ser) c.566T>G (p.Ile189Ser) c.320T>G (p.Ile107Ser) c.572T>G (p.Ile191Ser) n.743T>G | |
15 | g.43253621A>G | CA392101478 | TGM5 | c.569T>C (p.Ile190Thr) n.38T>C c.323T>C (p.Ile108Thr) c.566T>C (p.Ile189Thr) c.320T>C (p.Ile107Thr) c.572T>C (p.Ile191Thr) n.743T>C | dbSNP |
15 | g.43253621A>T | CA392101482 | TGM5 | c.569T>A (p.Ile190Asn) n.38T>A c.323T>A (p.Ile108Asn) c.566T>A (p.Ile189Asn) c.320T>A (p.Ile107Asn) c.572T>A (p.Ile191Asn) n.743T>A | |
15 | g.43253622T>A | CA392101487 | TGM5 | c.568A>T (p.Ile190Phe) n.37A>T c.322A>T (p.Ile108Phe) c.565A>T (p.Ile189Phe) c.319A>T (p.Ile107Phe) c.571A>T (p.Ile191Phe) n.742A>T | |
15 | g.43253622T>C | CA269976212 | TGM5 | c.568A>G (p.Ile190Val) n.37A>G c.322A>G (p.Ile108Val) c.565A>G (p.Ile189Val) c.319A>G (p.Ile107Val) c.571A>G (p.Ile191Val) n.742A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.43253622T>G | CA392101492 | TGM5 | c.568A>C (p.Ile190Leu) n.37A>C c.322A>C (p.Ile108Leu) c.565A>C (p.Ile189Leu) c.319A>C (p.Ile107Leu) c.571A>C (p.Ile191Leu) n.742A>C | |
15 | g.43253622T= | CA2173102996 | TGM5 | c.568A= (p.Ile190=) n.37A= c.322A= (p.Ile108=) c.565A= (p.Ile189=) c.319A= (p.Ile107=) c.571A= (p.Ile191=) n.742A= | |
15 | g.43253625dup | CA617644146 | TGM5 | c.568dup (p.Ile190AsnfsTer18) n.37dup c.322dup (p.Ile108AsnfsTer18) c.565dup (p.Ile189AsnfsTer18) c.319dup (p.Ile107AsnfsTer18) c.571dup (p.Ile191AsnfsTer18) n.742dup | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43253623T>A | CA392101499 | TGM5 | c.567A>T (p.Lys189Asn) n.36A>T c.321A>T (p.Lys107Asn) c.564A>T (p.Lys188Asn) c.318A>T (p.Lys106Asn) c.570A>T (p.Lys190Asn) n.741A>T | |
15 | g.43253623T>C | CA490131791 | TGM5 | c.567A>G (p.Lys189=) n.36A>G c.321A>G (p.Lys107=) c.564A>G (p.Lys188=) c.318A>G (p.Lys106=) c.570A>G (p.Lys190=) n.741A>G | |
15 | g.43253623T>G | CA392101501 | TGM5 | c.567A>C (p.Lys189Asn) n.36A>C c.321A>C (p.Lys107Asn) c.564A>C (p.Lys188Asn) c.318A>C (p.Lys106Asn) c.570A>C (p.Lys190Asn) n.741A>C | |
15 | g.43253624T>A | CA392101505 | TGM5 | c.566A>T (p.Lys189Ile) n.35A>T c.320A>T (p.Lys107Ile) c.563A>T (p.Lys188Ile) c.317A>T (p.Lys106Ile) c.569A>T (p.Lys190Ile) n.740A>T | |
15 | g.43253624T>C | CA392101508 | TGM5 | c.566A>G (p.Lys189Arg) n.35A>G c.320A>G (p.Lys107Arg) c.563A>G (p.Lys188Arg) c.317A>G (p.Lys106Arg) c.569A>G (p.Lys190Arg) n.740A>G | |
15 | g.43253624T>G | CA392101512 | TGM5 | c.566A>C (p.Lys189Thr) n.35A>C c.320A>C (p.Lys107Thr) c.563A>C (p.Lys188Thr) c.317A>C (p.Lys106Thr) c.569A>C (p.Lys190Thr) n.740A>C | |
15 | g.43253625T>A | CA392101525 | TGM5 | c.565A>T (p.Lys189Ter) n.34A>T c.319A>T (p.Lys107Ter) c.562A>T (p.Lys188Ter) c.316A>T (p.Lys106Ter) c.568A>T (p.Lys190Ter) n.739A>T | |
15 | g.43253625T>C | CA7521294 | TGM5 | c.565A>G (p.Lys189Glu) n.34A>G c.319A>G (p.Lys107Glu) c.562A>G (p.Lys188Glu) c.316A>G (p.Lys106Glu) c.568A>G (p.Lys190Glu) n.739A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253625T>G | CA392101517 | TGM5 | c.565A>C (p.Lys189Gln) n.34A>C c.319A>C (p.Lys107Gln) c.562A>C (p.Lys188Gln) c.316A>C (p.Lys106Gln) c.568A>C (p.Lys190Gln) n.739A>C | |
15 | g.43253625T= | CA2173102997 | TGM5 | c.565A= (p.Lys189=) n.34A= c.319A= (p.Lys107=) c.562A= (p.Lys188=) c.316A= (p.Lys106=) c.568A= (p.Lys190=) n.739A= | |
15 | g.43253626G>A | CA7521295 | TGM5 | c.564C>T (p.Asp188=) n.33C>T c.318C>T (p.Asp106=) c.561C>T (p.Asp187=) c.315C>T (p.Asp105=) c.567C>T (p.Asp189=) n.738C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253626G>C | CA392101556 | TGM5 | c.564C>G (p.Asp188Glu) n.33C>G c.318C>G (p.Asp106Glu) c.561C>G (p.Asp187Glu) c.315C>G (p.Asp105Glu) c.567C>G (p.Asp189Glu) n.738C>G | |
15 | g.43253626G= | CA2173102998 | TGM5 | c.564C= (p.Asp188=) n.33C= c.318C= (p.Asp106=) c.561C= (p.Asp187=) c.315C= (p.Asp105=) c.567C= (p.Asp189=) n.738C= | |
15 | g.43253626G>T | CA392101553 | TGM5 | c.564C>A (p.Asp188Glu) n.33C>A c.318C>A (p.Asp106Glu) c.561C>A (p.Asp187Glu) c.315C>A (p.Asp105Glu) c.567C>A (p.Asp189Glu) n.738C>A | |
15 | g.43253627T>A | CA392101562 | TGM5 | c.563A>T (p.Asp188Val) n.32A>T c.317A>T (p.Asp106Val) c.560A>T (p.Asp187Val) c.314A>T (p.Asp105Val) c.566A>T (p.Asp189Val) n.737A>T | dbSNP |
15 | g.43253627T>C | CA392101565 | TGM5 | c.563A>G (p.Asp188Gly) n.32A>G c.317A>G (p.Asp106Gly) c.560A>G (p.Asp187Gly) c.314A>G (p.Asp105Gly) c.566A>G (p.Asp189Gly) n.737A>G | |
15 | g.43253627T>G | CA392101570 | TGM5 | c.563A>C (p.Asp188Ala) n.32A>C c.317A>C (p.Asp106Ala) c.560A>C (p.Asp187Ala) c.314A>C (p.Asp105Ala) c.566A>C (p.Asp189Ala) n.737A>C | |
15 | g.43253627T= | CA2173102999 | TGM5 | c.563A= (p.Asp188=) n.32A= c.317A= (p.Asp106=) c.560A= (p.Asp187=) c.314A= (p.Asp105=) c.566A= (p.Asp189=) n.737A= | |
15 | g.43253628C>A | CA392101575 | TGM5 | c.562G>T (p.Asp188Tyr) n.31G>T c.316G>T (p.Asp106Tyr) c.559G>T (p.Asp187Tyr) c.313G>T (p.Asp105Tyr) c.565G>T (p.Asp189Tyr) n.736G>T | |
15 | g.43253628C>G | CA392101580 | TGM5 | c.562G>C (p.Asp188His) n.31G>C c.316G>C (p.Asp106His) c.559G>C (p.Asp187His) c.313G>C (p.Asp105His) c.565G>C (p.Asp189His) n.736G>C | |
15 | g.43253628C>T | CA392101584 | TGM5 | c.562G>A (p.Asp188Asn) n.31G>A c.316G>A (p.Asp106Asn) c.559G>A (p.Asp187Asn) c.313G>A (p.Asp105Asn) c.565G>A (p.Asp189Asn) n.736G>A | |
15 | g.43253629T>A | CA392101596 | TGM5 | c.561A>T (p.Glu187Asp) n.30A>T c.315A>T (p.Glu105Asp) c.558A>T (p.Glu186Asp) c.312A>T (p.Glu104Asp) c.564A>T (p.Glu188Asp) n.735A>T | |
15 | g.43253629T>C | CA490131792 | TGM5 | c.561A>G (p.Glu187=) n.30A>G c.315A>G (p.Glu105=) c.558A>G (p.Glu186=) c.312A>G (p.Glu104=) c.564A>G (p.Glu188=) n.735A>G | |
15 | g.43253629T>G | CA392101598 | TGM5 | c.561A>C (p.Glu187Asp) n.30A>C c.315A>C (p.Glu105Asp) c.558A>C (p.Glu186Asp) c.312A>C (p.Glu104Asp) c.564A>C (p.Glu188Asp) n.735A>C | |
15 | g.43253630T>A | CA392101604 | TGM5 | c.560A>T (p.Glu187Val) n.29A>T c.314A>T (p.Glu105Val) c.557A>T (p.Glu186Val) c.311A>T (p.Glu104Val) c.563A>T (p.Glu188Val) n.734A>T | |
15 | g.43253630T>C | CA392101607 | TGM5 | c.560A>G (p.Glu187Gly) n.29A>G c.314A>G (p.Glu105Gly) c.557A>G (p.Glu186Gly) c.311A>G (p.Glu104Gly) c.563A>G (p.Glu188Gly) n.734A>G | dbSNP gnomAD v2 |
15 | g.43253630T>G | CA392101610 | TGM5 | c.560A>C (p.Glu187Ala) n.29A>C c.314A>C (p.Glu105Ala) c.557A>C (p.Glu186Ala) c.311A>C (p.Glu104Ala) c.563A>C (p.Glu188Ala) n.734A>C | |
15 | g.43253630T= | CA2173103000 | TGM5 | c.560A= (p.Glu187=) n.29A= c.314A= (p.Glu105=) c.557A= (p.Glu186=) c.311A= (p.Glu104=) c.563A= (p.Glu188=) n.734A= | |
15 | g.43253631C>A | CA392101633 | TGM5 | c.559G>T (p.Glu187Ter) n.28G>T c.313G>T (p.Glu105Ter) c.556G>T (p.Glu186Ter) c.310G>T (p.Glu104Ter) c.562G>T (p.Glu188Ter) n.733G>T | gnomAD v4 |
15 | g.43253631C>G | CA392101631 | TGM5 | c.559G>C (p.Glu187Gln) n.28G>C c.313G>C (p.Glu105Gln) c.556G>C (p.Glu186Gln) c.310G>C (p.Glu104Gln) c.562G>C (p.Glu188Gln) n.733G>C | |
15 | g.43253631C>T | CA392101628 | TGM5 | c.559G>A (p.Glu187Lys) n.28G>A c.313G>A (p.Glu105Lys) c.556G>A (p.Glu186Lys) c.310G>A (p.Glu104Lys) c.562G>A (p.Glu188Lys) n.733G>A | |
15 | g.43253632A>C | CA392101639 | TGM5 | c.558T>G (p.Phe186Leu) n.27T>G c.312T>G (p.Phe104Leu) c.555T>G (p.Phe185Leu) c.309T>G (p.Phe103Leu) c.561T>G (p.Phe187Leu) n.732T>G | |
15 | g.43253632A>G | CA490131793 | TGM5 | c.558T>C (p.Phe186=) n.27T>C c.312T>C (p.Phe104=) c.555T>C (p.Phe185=) c.309T>C (p.Phe103=) c.561T>C (p.Phe187=) n.732T>C | |
15 | g.43253632A>T | CA392101641 | TGM5 | c.558T>A (p.Phe186Leu) n.27T>A c.312T>A (p.Phe104Leu) c.555T>A (p.Phe185Leu) c.309T>A (p.Phe103Leu) c.561T>A (p.Phe187Leu) n.732T>A | |
15 | g.43253633A>C | CA392101644 | TGM5 | c.557T>G (p.Phe186Cys) n.26T>G c.311T>G (p.Phe104Cys) c.554T>G (p.Phe185Cys) c.308T>G (p.Phe103Cys) c.560T>G (p.Phe187Cys) n.731T>G | |
15 | g.43253633A>G | CA392101648 | TGM5 | c.557T>C (p.Phe186Ser) n.26T>C c.311T>C (p.Phe104Ser) c.554T>C (p.Phe185Ser) c.308T>C (p.Phe103Ser) c.560T>C (p.Phe187Ser) n.731T>C | |
15 | g.43253633A>T | CA392101651 | TGM5 | c.557T>A (p.Phe186Tyr) n.26T>A c.311T>A (p.Phe104Tyr) c.554T>A (p.Phe185Tyr) c.308T>A (p.Phe103Tyr) c.560T>A (p.Phe187Tyr) n.731T>A | |
15 | g.43253634A>C | CA392101657 | TGM5 | c.556T>G (p.Phe186Val) n.25T>G c.310T>G (p.Phe104Val) c.553T>G (p.Phe185Val) c.307T>G (p.Phe103Val) c.559T>G (p.Phe187Val) n.730T>G | |
15 | g.43253634A>G | CA392101660 | TGM5 | c.556T>C (p.Phe186Leu) n.25T>C c.310T>C (p.Phe104Leu) c.553T>C (p.Phe185Leu) c.307T>C (p.Phe103Leu) c.559T>C (p.Phe187Leu) n.730T>C | |
15 | g.43253634A>T | CA392101664 | TGM5 | c.556T>A (p.Phe186Ile) n.25T>A c.310T>A (p.Phe104Ile) c.553T>A (p.Phe185Ile) c.307T>A (p.Phe103Ile) c.559T>A (p.Phe187Ile) n.730T>A | |
15 | g.43253635C>A | CA392101667 | TGM5 | c.556-1G>T (n.556-1G>T) n.24G>T c.310-1G>T (n.310-1G>T) c.553-1G>T (n.553-1G>T) c.307-1G>T (n.307-1G>T) c.559-1G>T (n.559-1G>T) n.730-1G>T | |
15 | g.43253635C= | CA2173103001 | TGM5 | c.556-1G= (n.556-1G=) n.24G= c.310-1G= (n.310-1G=) c.553-1G= (n.553-1G=) c.307-1G= (n.307-1G=) c.559-1G= (n.559-1G=) n.730-1G= | |
15 | g.43253635C>G | CA7521296 | TGM5 | c.556-1G>C (n.556-1G>C) n.24G>C c.310-1G>C (n.310-1G>C) c.553-1G>C (n.553-1G>C) c.307-1G>C (n.307-1G>C) c.559-1G>C (n.559-1G>C) n.730-1G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253635C>T | CA392101672 | TGM5 | c.556-1G>A (n.556-1G>A) n.24G>A c.310-1G>A (n.310-1G>A) c.553-1G>A (n.553-1G>A) c.307-1G>A (n.307-1G>A) c.559-1G>A (n.559-1G>A) n.730-1G>A | gnomAD v4 |
15 | g.43253636T>A | CA392101687 | TGM5 | c.556-2A>T (n.556-2A>T) n.23A>T c.310-2A>T (n.310-2A>T) c.553-2A>T (n.553-2A>T) c.307-2A>T (n.307-2A>T) c.559-2A>T (n.559-2A>T) n.730-2A>T | |
15 | g.43253636T>C | CA269976227 | TGM5 | c.556-2A>G (n.556-2A>G) n.23A>G c.310-2A>G (n.310-2A>G) c.553-2A>G (n.553-2A>G) c.307-2A>G (n.307-2A>G) c.559-2A>G (n.559-2A>G) n.730-2A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253636T>G | CA392101678 | TGM5 | c.556-2A>C (n.556-2A>C) n.23A>C c.310-2A>C (n.310-2A>C) c.553-2A>C (n.553-2A>C) c.307-2A>C (n.307-2A>C) c.559-2A>C (n.559-2A>C) n.730-2A>C | |
15 | g.43253636T= | CA2173103002 | TGM5 | c.556-2A= (n.556-2A=) n.23A= c.310-2A= (n.310-2A=) c.553-2A= (n.553-2A=) c.307-2A= (n.307-2A=) c.559-2A= (n.559-2A=) n.730-2A= | |
15 | g.43253637_43253638delinsTC | CA2173103003 | TGM5 | c.556-4_556-3delinsGA (n.556-4_556-3delinsGA) n.21_22delinsGA c.310-4_310-3delinsGA (n.310-4_310-3delinsGA) c.553-4_553-3delinsGA (n.553-4_553-3delinsGA) c.307-4_307-3delinsGA (n.307-4_307-3delinsGA) c.559-4_559-3delinsGA (n.559-4_559-3delinsGA) n.730-4_730-3delinsGA | |
15 | g.43253638del | CA2173103006 | TGM5 | c.556-4del (n.556-4del) n.21del c.310-4del (n.310-4del) c.553-4del (n.553-4del) c.307-4del (n.307-4del) c.559-4del (n.559-4del) n.730-4del | dbSNP |
15 | g.43253638C= | CA2173103004 | TGM5 | c.556-4G= (n.556-4G=) n.21G= c.310-4G= (n.310-4G=) c.553-4G= (n.553-4G=) c.307-4G= (n.307-4G=) c.559-4G= (n.559-4G=) n.730-4G= | |
15 | g.43253638C>T | CA7521297 | TGM5 | c.556-4G>A (n.556-4G>A) n.21G>A c.310-4G>A (n.310-4G>A) c.553-4G>A (n.553-4G>A) c.307-4G>A (n.307-4G>A) c.559-4G>A (n.559-4G>A) n.730-4G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253638_43253639delinsCG | CA2173103005 | TGM5 | c.556-5_556-4delinsCG (n.556-5_556-4delinsCG) n.20_21delinsCG c.310-5_310-4delinsCG (n.310-5_310-4delinsCG) c.553-5_553-4delinsCG (n.553-5_553-4delinsCG) c.307-5_307-4delinsCG (n.307-5_307-4delinsCG) c.559-5_559-4delinsCG (n.559-5_559-4delinsCG) n.730-5_730-4delinsCG | |
15 | g.43253639G>A | CA7521298 | TGM5 | c.556-5C>T (n.556-5C>T) n.20C>T c.310-5C>T (n.310-5C>T) c.553-5C>T (n.553-5C>T) c.307-5C>T (n.307-5C>T) c.559-5C>T (n.559-5C>T) n.730-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253639G>C | CA2575701599 | TGM5 | c.556-5C>G (n.556-5C>G) n.20C>G c.310-5C>G (n.310-5C>G) c.553-5C>G (n.553-5C>G) c.307-5C>G (n.307-5C>G) c.559-5C>G (n.559-5C>G) n.730-5C>G | |
15 | g.43253639G= | CA2173103007 | TGM5 | c.556-5C= (n.556-5C=) n.20C= c.310-5C= (n.310-5C=) c.553-5C= (n.553-5C=) c.307-5C= (n.307-5C=) c.559-5C= (n.559-5C=) n.730-5C= | |
15 | g.43253639G>T | CA2628101440 | TGM5 | c.556-5C>A (n.556-5C>A) n.20C>A c.310-5C>A (n.310-5C>A) c.553-5C>A (n.553-5C>A) c.307-5C>A (n.307-5C>A) c.559-5C>A (n.559-5C>A) n.730-5C>A | gnomAD v4 |
15 | g.43253644dup | CA269976233 | TGM5 | c.556-5dup (n.556-5dup) n.20dup c.310-5dup (n.310-5dup) c.553-5dup (n.553-5dup) c.307-5dup (n.307-5dup) c.559-5dup (n.559-5dup) n.730-5dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253644del | CA919541594 | TGM5 | c.556-5del (n.556-5del) n.20del c.310-5del (n.310-5del) c.553-5del (n.553-5del) c.307-5del (n.307-5del) c.559-5del (n.559-5del) n.730-5del | dbSNP gnomAD v4 |
15 | g.43253640G>A | CA269976235 | TGM5 | c.556-6C>T (n.556-6C>T) n.19C>T c.310-6C>T (n.310-6C>T) c.553-6C>T (n.553-6C>T) c.307-6C>T (n.307-6C>T) c.559-6C>T (n.559-6C>T) n.730-6C>T | dbSNP gnomAD v4 |
15 | g.43253640G>C | CA2803936624 | TGM5 | c.556-6C>G (n.556-6C>G) n.19C>G c.310-6C>G (n.310-6C>G) c.553-6C>G (n.553-6C>G) c.307-6C>G (n.307-6C>G) c.559-6C>G (n.559-6C>G) n.730-6C>G | |
15 | g.43253640G= | CA2173103008 | TGM5 | c.556-6C= (n.556-6C=) n.19C= c.310-6C= (n.310-6C=) c.553-6C= (n.553-6C=) c.307-6C= (n.307-6C=) c.559-6C= (n.559-6C=) n.730-6C= | |
15 | g.43253640G>T | CA269976236 | TGM5 | c.556-6C>A (n.556-6C>A) n.19C>A c.310-6C>A (n.310-6C>A) c.553-6C>A (n.553-6C>A) c.307-6C>A (n.307-6C>A) c.559-6C>A (n.559-6C>A) n.730-6C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.43253641G>A | CA2544309627 | TGM5 | c.556-7C>T (n.556-7C>T) n.18C>T c.310-7C>T (n.310-7C>T) c.553-7C>T (n.553-7C>T) c.307-7C>T (n.307-7C>T) c.559-7C>T (n.559-7C>T) n.730-7C>T | |
15 | g.43253641G>C | CA7521299 | TGM5 | c.556-7C>G (n.556-7C>G) n.18C>G c.310-7C>G (n.310-7C>G) c.553-7C>G (n.553-7C>G) c.307-7C>G (n.307-7C>G) c.559-7C>G (n.559-7C>G) n.730-7C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253641G= | CA2173103009 | TGM5 | c.556-7C= (n.556-7C=) n.18C= c.310-7C= (n.310-7C=) c.553-7C= (n.553-7C=) c.307-7C= (n.307-7C=) c.559-7C= (n.559-7C=) n.730-7C= | |
15 | g.43253641G>T | CA269976242 | TGM5 | c.556-7C>A (n.556-7C>A) n.18C>A c.310-7C>A (n.310-7C>A) c.553-7C>A (n.553-7C>A) c.307-7C>A (n.307-7C>A) c.559-7C>A (n.559-7C>A) n.730-7C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253642G>A | CA490131794 | TGM5 | c.556-8C>T (n.556-8C>T) n.17C>T c.310-8C>T (n.310-8C>T) c.553-8C>T (n.553-8C>T) c.307-8C>T (n.307-8C>T) c.559-8C>T (n.559-8C>T) n.730-8C>T | COSMIC |
15 | g.43253643G>A | CA490131795 | TGM5 | c.556-9C>T (n.556-9C>T) n.16C>T c.310-9C>T (n.310-9C>T) c.553-9C>T (n.553-9C>T) c.307-9C>T (n.307-9C>T) c.559-9C>T (n.559-9C>T) n.730-9C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.43253643G= | CA2173103010 | TGM5 | c.556-9C= (n.556-9C=) n.16C= c.310-9C= (n.310-9C=) c.553-9C= (n.553-9C=) c.307-9C= (n.307-9C=) c.559-9C= (n.559-9C=) n.730-9C= | |
15 | g.43253643G>T | CA7521300 | TGM5 | c.556-9C>A (n.556-9C>A) n.16C>A c.310-9C>A (n.310-9C>A) c.553-9C>A (n.553-9C>A) c.307-9C>A (n.307-9C>A) c.559-9C>A (n.559-9C>A) n.730-9C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253644G>A | CA2841618294 | TGM5 | c.556-10C>T (n.556-10C>T) n.15C>T c.310-10C>T (n.310-10C>T) c.553-10C>T (n.553-10C>T) c.307-10C>T (n.307-10C>T) c.559-10C>T (n.559-10C>T) n.730-10C>T | |
15 | g.43253644G>T | CA2628101449 | TGM5 | c.556-10C>A (n.556-10C>A) n.15C>A c.310-10C>A (n.310-10C>A) c.553-10C>A (n.553-10C>A) c.307-10C>A (n.307-10C>A) c.559-10C>A (n.559-10C>A) n.730-10C>A | gnomAD v4 |
15 | g.43253645del | CA2628101450 | TGM5 | c.556-11del (n.556-11del) n.14del c.310-11del (n.310-11del) c.553-11del (n.553-11del) c.307-11del (n.307-11del) c.559-11del (n.559-11del) n.730-11del | gnomAD v4 |
15 | g.43253645A>C | CA2836526992 | TGM5 | c.556-11T>G (n.556-11T>G) n.14T>G c.310-11T>G (n.310-11T>G) c.553-11T>G (n.553-11T>G) c.307-11T>G (n.307-11T>G) c.559-11T>G (n.559-11T>G) n.730-11T>G | |
15 | g.43253645A>G | CA2841618295 | TGM5 | c.556-11T>C (n.556-11T>C) n.14T>C c.310-11T>C (n.310-11T>C) c.553-11T>C (n.553-11T>C) c.307-11T>C (n.307-11T>C) c.559-11T>C (n.559-11T>C) n.730-11T>C | |
15 | g.43253646G>A | CA7521301 | TGM5 | c.556-12C>T (n.556-12C>T) n.13C>T c.310-12C>T (n.310-12C>T) c.553-12C>T (n.553-12C>T) c.307-12C>T (n.307-12C>T) c.559-12C>T (n.559-12C>T) n.730-12C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253646G= | CA2173103011 | TGM5 | c.556-12C= (n.556-12C=) n.13C= c.310-12C= (n.310-12C=) c.553-12C= (n.553-12C=) c.307-12C= (n.307-12C=) c.559-12C= (n.559-12C=) n.730-12C= | |
15 | g.43253646G>T | CA2841618296 | TGM5 | c.556-12C>A (n.556-12C>A) n.13C>A c.310-12C>A (n.310-12C>A) c.553-12C>A (n.553-12C>A) c.307-12C>A (n.307-12C>A) c.559-12C>A (n.559-12C>A) n.730-12C>A | |
15 | g.43253647A>G | CA2628101453 | TGM5 | c.556-13T>C (n.556-13T>C) n.12T>C c.310-13T>C (n.310-13T>C) c.553-13T>C (n.553-13T>C) c.307-13T>C (n.307-13T>C) c.559-13T>C (n.559-13T>C) n.730-13T>C | gnomAD v4 |
15 | g.43253652_43253664del | CA2628101452 | TGM5 | c.556-25_556-13del (n.556-25_556-13del) c.310-25_310-13del (n.310-25_310-13del) c.553-25_553-13del (n.553-25_553-13del) c.307-25_307-13del (n.307-25_307-13del) c.559-25_559-13del (n.559-25_559-13del) n.730-25_730-13del | gnomAD v4 |
15 | g.43253648G>A | CA617644147 | TGM5 | c.556-14C>T (n.556-14C>T) n.11C>T c.310-14C>T (n.310-14C>T) c.553-14C>T (n.553-14C>T) c.307-14C>T (n.307-14C>T) c.559-14C>T (n.559-14C>T) n.730-14C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.43253648G>C | CA2839675266 | TGM5 | c.556-14C>G (n.556-14C>G) n.11C>G c.310-14C>G (n.310-14C>G) c.553-14C>G (n.553-14C>G) c.307-14C>G (n.307-14C>G) c.559-14C>G (n.559-14C>G) n.730-14C>G | |
15 | g.43253648G= | CA2173103012 | TGM5 | c.556-14C= (n.556-14C=) n.11C= c.310-14C= (n.310-14C=) c.553-14C= (n.553-14C=) c.307-14C= (n.307-14C=) c.559-14C= (n.559-14C=) n.730-14C= | |
15 | g.43253649G>A | CA2628101456 | TGM5 | c.556-15C>T (n.556-15C>T) n.10C>T c.310-15C>T (n.310-15C>T) c.553-15C>T (n.553-15C>T) c.307-15C>T (n.307-15C>T) c.559-15C>T (n.559-15C>T) n.730-15C>T | gnomAD v4 |
15 | g.43253649G>C | CA2628101454 | TGM5 | c.556-15C>G (n.556-15C>G) n.10C>G c.310-15C>G (n.310-15C>G) c.553-15C>G (n.553-15C>G) c.307-15C>G (n.307-15C>G) c.559-15C>G (n.559-15C>G) n.730-15C>G | gnomAD v4 |
15 | g.43253649G>T | CA2628101455 | TGM5 | c.556-15C>A (n.556-15C>A) n.10C>A c.310-15C>A (n.310-15C>A) c.553-15C>A (n.553-15C>A) c.307-15C>A (n.307-15C>A) c.559-15C>A (n.559-15C>A) n.730-15C>A | gnomAD v4 |
15 | g.43253650C>A | CA2841618297 | TGM5 | c.556-16G>T (n.556-16G>T) n.9G>T c.310-16G>T (n.310-16G>T) c.553-16G>T (n.553-16G>T) c.307-16G>T (n.307-16G>T) c.559-16G>T (n.559-16G>T) n.730-16G>T | |
15 | g.43253650C>G | CA2575701600 | TGM5 | c.556-16G>C (n.556-16G>C) n.9G>C c.310-16G>C (n.310-16G>C) c.553-16G>C (n.553-16G>C) c.307-16G>C (n.307-16G>C) c.559-16G>C (n.559-16G>C) n.730-16G>C | |
15 | g.43253650C>T | CA2628101457 | TGM5 | c.556-16G>A (n.556-16G>A) n.9G>A c.310-16G>A (n.310-16G>A) c.553-16G>A (n.553-16G>A) c.307-16G>A (n.307-16G>A) c.559-16G>A (n.559-16G>A) n.730-16G>A | gnomAD v4 |
15 | g.43253651A= | CA2173103013 | TGM5 | c.556-17T= (n.556-17T=) n.8T= c.310-17T= (n.310-17T=) c.553-17T= (n.553-17T=) c.307-17T= (n.307-17T=) c.559-17T= (n.559-17T=) n.730-17T= | |
15 | g.43253651A>G | CA617644148 | TGM5 | c.556-17T>C (n.556-17T>C) n.8T>C c.310-17T>C (n.310-17T>C) c.553-17T>C (n.553-17T>C) c.307-17T>C (n.307-17T>C) c.559-17T>C (n.559-17T>C) n.730-17T>C | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43253652G>T | CA2628101459 | TGM5 | c.556-18C>A (n.556-18C>A) n.7C>A c.310-18C>A (n.310-18C>A) c.553-18C>A (n.553-18C>A) c.307-18C>A (n.307-18C>A) c.559-18C>A (n.559-18C>A) n.730-18C>A | gnomAD v4 |
15 | g.43253654G>T | CA2628101461 | TGM5 | c.556-20C>A (n.556-20C>A) n.5C>A c.310-20C>A (n.310-20C>A) c.553-20C>A (n.553-20C>A) c.307-20C>A (n.307-20C>A) c.559-20C>A (n.559-20C>A) n.730-20C>A | gnomAD v4 |
15 | g.43253656G>C | CA7521302 | TGM5 | c.556-22C>G (n.556-22C>G) n.3C>G c.310-22C>G (n.310-22C>G) c.553-22C>G (n.553-22C>G) c.307-22C>G (n.307-22C>G) c.559-22C>G (n.559-22C>G) n.730-22C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.43253656G= | CA2173103014 | TGM5 | c.556-22C= (n.556-22C=) n.3C= c.310-22C= (n.310-22C=) c.553-22C= (n.553-22C=) c.307-22C= (n.307-22C=) c.559-22C= (n.559-22C=) n.730-22C= | |
15 | g.43253656G>T | CA2628101463 | TGM5 | c.556-22C>A (n.556-22C>A) n.3C>A c.310-22C>A (n.310-22C>A) c.553-22C>A (n.553-22C>A) c.307-22C>A (n.307-22C>A) c.559-22C>A (n.559-22C>A) n.730-22C>A | gnomAD v4 |
15 | g.43253657G>A | CA617644149 | TGM5 | c.556-23C>T (n.556-23C>T) n.2C>T c.310-23C>T (n.310-23C>T) c.553-23C>T (n.553-23C>T) c.307-23C>T (n.307-23C>T) c.559-23C>T (n.559-23C>T) n.730-23C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43253657G= | CA2173103015 | TGM5 | c.556-23C= (n.556-23C=) n.2C= c.310-23C= (n.310-23C=) c.553-23C= (n.553-23C=) c.307-23C= (n.307-23C=) c.559-23C= (n.559-23C=) n.730-23C= | |
15 | g.43253657G>T | CA2628101464 | TGM5 | c.556-23C>A (n.556-23C>A) n.2C>A c.310-23C>A (n.310-23C>A) c.553-23C>A (n.553-23C>A) c.307-23C>A (n.307-23C>A) c.559-23C>A (n.559-23C>A) n.730-23C>A | gnomAD v4 |