Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.49089916A= | CA2034981909 | DHH | c.1134T= (p.Thr378=) c.993T= (p.Thr331=) c.792T= (p.Thr264=) | |
12 | g.49089916A>C | CA479715748 | DHH | c.1134T>G (p.Thr378=) c.993T>G (p.Thr331=) c.792T>G (p.Thr264=) | dbSNP gnomAD v4 |
12 | g.49089916A>G | CA479715749 | DHH | c.1134T>C (p.Thr378=) c.993T>C (p.Thr331=) c.792T>C (p.Thr264=) | gnomAD v4 |
12 | g.49089916A>T | CA6549076 | DHH | c.1134T>A (p.Thr378=) c.993T>A (p.Thr331=) c.792T>A (p.Thr264=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49089917G>A | CA384713908 | DHH | c.1133C>T (p.Thr378Ile) c.992C>T (p.Thr331Ile) c.791C>T (p.Thr264Ile) | gnomAD v4 |
12 | g.49089917G>C | CA384713913 | DHH | c.1133C>G (p.Thr378Ser) c.992C>G (p.Thr331Ser) c.791C>G (p.Thr264Ser) | |
12 | g.49089917G>T | CA384713910 | DHH | c.1133C>A (p.Thr378Asn) c.992C>A (p.Thr331Asn) c.791C>A (p.Thr264Asn) | |
12 | g.49089918T>A | CA384713929 | DHH | c.1132A>T (p.Thr378Ser) c.991A>T (p.Thr331Ser) c.790A>T (p.Thr264Ser) | |
12 | g.49089918T>C | CA384713932 | DHH | c.1132A>G (p.Thr378Ala) c.991A>G (p.Thr331Ala) c.790A>G (p.Thr264Ala) | |
12 | g.49089918T>G | CA384713944 | DHH | c.1132A>C (p.Thr378Pro) c.991A>C (p.Thr331Pro) c.790A>C (p.Thr264Pro) | |
12 | g.49089919C>A | CA479715755 | DHH | c.1131G>T (p.Pro377=) c.990G>T (p.Pro330=) c.789G>T (p.Pro263=) | gnomAD v4 |
12 | g.49089919C= | CA2034981910 | DHH | c.1131G= (p.Pro377=) c.990G= (p.Pro330=) c.789G= (p.Pro263=) | |
12 | g.49089919C>G | CA479715754 | DHH | c.1131G>C (p.Pro377=) c.990G>C (p.Pro330=) c.789G>C (p.Pro263=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49089919C>T | CA479715753 | DHH | c.1131G>A (p.Pro377=) c.990G>A (p.Pro330=) c.789G>A (p.Pro263=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.49089920G>A | CA6549077 | DHH | c.1130C>T (p.Pro377Leu) c.989C>T (p.Pro330Leu) c.788C>T (p.Pro263Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49089920G>C | CA384713948 | DHH | c.1130C>G (p.Pro377Arg) c.989C>G (p.Pro330Arg) c.788C>G (p.Pro263Arg) | gnomAD v4 |
12 | g.49089920G= | CA2034981911 | DHH | c.1130C= (p.Pro377=) c.989C= (p.Pro330=) c.788C= (p.Pro263=) | |
12 | g.49089920G>T | CA384713964 | DHH | c.1130C>A (p.Pro377Gln) c.989C>A (p.Pro330Gln) c.788C>A (p.Pro263Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49089921G>A | CA384713982 | DHH | c.1129C>T (p.Pro377Ser) c.988C>T (p.Pro330Ser) c.787C>T (p.Pro263Ser) | gnomAD v4 |
12 | g.49089921G>C | CA384713971 | DHH | c.1129C>G (p.Pro377Ala) c.988C>G (p.Pro330Ala) c.787C>G (p.Pro263Ala) | |
12 | g.49089921G>T | CA384713972 | DHH | c.1129C>A (p.Pro377Thr) c.988C>A (p.Pro330Thr) c.787C>A (p.Pro263Thr) | ClinVar |
12 | g.49089922C>A | CA384713985 | DHH | c.1128G>T (p.Gln376His) c.987G>T (p.Gln329His) c.786G>T (p.Gln262His) | gnomAD v4 |
12 | g.49089922C>G | CA384713986 | DHH | c.1128G>C (p.Gln376His) c.987G>C (p.Gln329His) c.786G>C (p.Gln262His) | |
12 | g.49089922C>T | CA479715759 | DHH | c.1128G>A (p.Gln376=) c.987G>A (p.Gln329=) c.786G>A (p.Gln262=) | gnomAD v4 |
12 | g.49089923T>A | CA384713990 | DHH | c.1127A>T (p.Gln376Leu) c.986A>T (p.Gln329Leu) c.785A>T (p.Gln262Leu) | |
12 | g.49089923T>C | CA384713994 | DHH | c.1127A>G (p.Gln376Arg) c.986A>G (p.Gln329Arg) c.785A>G (p.Gln262Arg) | gnomAD v4 |
12 | g.49089923T>G | CA384713996 | DHH | c.1127A>C (p.Gln376Pro) c.986A>C (p.Gln329Pro) c.785A>C (p.Gln262Pro) | |
12 | g.49089924G>A | CA384714004 | DHH | c.1126C>T (p.Gln376Ter) c.985C>T (p.Gln329Ter) c.784C>T (p.Gln262Ter) | gnomAD v4 |
12 | g.49089924G>C | CA384713999 | DHH | c.1126C>G (p.Gln376Glu) c.985C>G (p.Gln329Glu) c.784C>G (p.Gln262Glu) | gnomAD v4 |
12 | g.49089924G>T | CA384714001 | DHH | c.1126C>A (p.Gln376Lys) c.985C>A (p.Gln329Lys) c.784C>A (p.Gln262Lys) | gnomAD v4 |
12 | g.49089925G>A | CA479715761 | DHH | c.1125C>T (p.Val375=) c.984C>T (p.Val328=) c.783C>T (p.Val261=) | |
12 | g.49089925G>C | CA479715762 | DHH | c.1125C>G (p.Val375=) c.984C>G (p.Val328=) c.783C>G (p.Val261=) | dbSNP |
12 | g.49089925G= | CA2034981912 | DHH | c.1125C= (p.Val375=) c.984C= (p.Val328=) c.783C= (p.Val261=) | |
12 | g.49089925G>T | CA479715763 | DHH | c.1125C>A (p.Val375=) c.984C>A (p.Val328=) c.783C>A (p.Val261=) | |
12 | g.49089926A= | CA2034981913 | DHH | c.1124T= (p.Val375=) c.983T= (p.Val328=) c.782T= (p.Val261=) | |
12 | g.49089926A>C | CA384714006 | DHH | c.1124T>G (p.Val375Gly) c.983T>G (p.Val328Gly) c.782T>G (p.Val261Gly) | |
12 | g.49089926A>G | CA6549078 | DHH | c.1124T>C (p.Val375Ala) c.983T>C (p.Val328Ala) c.782T>C (p.Val261Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49089926A>T | CA384714019 | DHH | c.1124T>A (p.Val375Asp) c.983T>A (p.Val328Asp) c.782T>A (p.Val261Asp) | gnomAD v4 |
12 | g.49089927C>A | CA384714032 | DHH | c.1123G>T (p.Val375Phe) c.982G>T (p.Val328Phe) c.781G>T (p.Val261Phe) | |
12 | g.49089927C>G | CA384714033 | DHH | c.1123G>C (p.Val375Leu) c.982G>C (p.Val328Leu) c.781G>C (p.Val261Leu) | |
12 | g.49089927C>T | CA384714034 | DHH | c.1123G>A (p.Val375Ile) c.982G>A (p.Val328Ile) c.781G>A (p.Val261Ile) | gnomAD v4 |
12 | g.49089928G>A | CA479715767 | DHH | c.1122C>T (p.Ala374=) c.981C>T (p.Ala327=) c.780C>T (p.Ala260=) | gnomAD v4 |
12 | g.49089928G>C | CA479715768 | DHH | c.1122C>G (p.Ala374=) c.981C>G (p.Ala327=) c.780C>G (p.Ala260=) | gnomAD v4 |
12 | g.49089928G>T | CA479715769 | DHH | c.1122C>A (p.Ala374=) c.981C>A (p.Ala327=) c.780C>A (p.Ala260=) | |
12 | g.49089929G>A | CA384714036 | DHH | c.1121C>T (p.Ala374Val) c.980C>T (p.Ala327Val) c.779C>T (p.Ala260Val) | gnomAD v4 |
12 | g.49089929G>C | CA384714038 | DHH | c.1121C>G (p.Ala374Gly) c.980C>G (p.Ala327Gly) c.779C>G (p.Ala260Gly) | |
12 | g.49089929G>T | CA384714044 | DHH | c.1121C>A (p.Ala374Asp) c.980C>A (p.Ala327Asp) c.779C>A (p.Ala260Asp) | gnomAD v4 |
12 | g.49089930C>A | CA384714047 | DHH | c.1120G>T (p.Ala374Ser) c.979G>T (p.Ala327Ser) c.778G>T (p.Ala260Ser) | gnomAD v4 |
12 | g.49089930C>G | CA384714062 | DHH | c.1120G>C (p.Ala374Pro) c.979G>C (p.Ala327Pro) c.778G>C (p.Ala260Pro) | |
12 | g.49089930C>T | CA384714065 | DHH | c.1120G>A (p.Ala374Thr) c.979G>A (p.Ala327Thr) c.778G>A (p.Ala260Thr) | gnomAD v4 |