Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.72059151_72063259del | CA645372599 | TXNL4B | c.285-18901_285-14793del (n.285-18901_285-14793del) | ClinVar |
16 | g.72060311G>A | CA8159156 | HP,TXNL4B | c.642G>A (p.Ala214=) c.267G>A (p.Ala89=) c.750G>A (p.Ala250=) c.465G>A (p.Ala155=) c.285-15954C>T (n.285-15954C>T) c.266-352G>A (n.266-352G>A) c.345G>A (p.Ala115=) n.2281G>A c.634G>A c.517G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.72060311G>C | CA496414847 | HP,TXNL4B | c.642G>C (p.Ala214=) c.267G>C (p.Ala89=) c.750G>C (p.Ala250=) c.465G>C (p.Ala155=) c.285-15954C>G (n.285-15954C>G) c.266-352G>C (n.266-352G>C) c.345G>C (p.Ala115=) n.2281G>C c.634G>C c.517G>C | |
16 | g.72060311G= | CA2231555202 | HP,TXNL4B | c.642G= (p.Ala214=) c.267G= (p.Ala89=) c.750G= (p.Ala250=) c.465G= (p.Ala155=) c.285-15954C= (n.285-15954C=) c.266-352G= (n.266-352G=) c.345G= (p.Ala115=) n.2281G= c.634G= c.517G= | |
16 | g.72060311G>T | CA496414848 | HP,TXNL4B | c.642G>T (p.Ala214=) c.267G>T (p.Ala89=) c.750G>T (p.Ala250=) c.465G>T (p.Ala155=) c.285-15954C>A (n.285-15954C>A) c.266-352G>T (n.266-352G>T) c.345G>T (p.Ala115=) n.2281G>T c.634G>T c.517G>T | |
16 | g.72060312A>C | CA396677203 | HP,TXNL4B | c.643A>C (p.Lys215Gln) c.268A>C (p.Lys90Gln) c.751A>C (p.Lys251Gln) c.466A>C (p.Lys156Gln) c.285-15955T>G (n.285-15955T>G) c.266-351A>C (n.266-351A>C) c.346A>C (p.Lys116Gln) n.2282A>C c.635A>C c.518A>C | |
16 | g.72060312A>G | CA396677205 | HP,TXNL4B | c.643A>G (p.Lys215Glu) c.268A>G (p.Lys90Glu) c.751A>G (p.Lys251Glu) c.466A>G (p.Lys156Glu) c.285-15955T>C (n.285-15955T>C) c.266-351A>G (n.266-351A>G) c.346A>G (p.Lys116Glu) n.2282A>G c.635A>G c.518A>G | |
16 | g.72060312A>T | CA396677209 | HP,TXNL4B | c.643A>T (p.Lys215Ter) c.268A>T (p.Lys90Ter) c.751A>T (p.Lys251Ter) c.466A>T (p.Lys156Ter) c.285-15955T>A (n.285-15955T>A) c.266-351A>T (n.266-351A>T) c.346A>T (p.Lys116Ter) n.2282A>T c.635A>T c.518A>T | |
16 | g.72060314dup | CA2576057061 | HP,TXNL4B | c.645dup (p.Asp216ArgfsTer19) c.270dup (p.Asp91ArgfsTer19) c.753dup (p.Asp252ArgfsTer19) c.468dup (p.Asp157ArgfsTer19) c.285-15955dup (n.285-15955dup) c.266-349dup (n.266-349dup) c.348dup (p.Asp117ArgfsTer19) n.2284dup c.637dup c.520dup | |
16 | g.72060313A>C | CA396677212 | HP,TXNL4B | c.644A>C (p.Lys215Thr) c.269A>C (p.Lys90Thr) c.752A>C (p.Lys251Thr) c.467A>C (p.Lys156Thr) c.285-15956T>G (n.285-15956T>G) c.266-350A>C (n.266-350A>C) c.347A>C (p.Lys116Thr) n.2283A>C c.636A>C c.519A>C | |
16 | g.72060313A>G | CA396677213 | HP,TXNL4B | c.644A>G (p.Lys215Arg) c.269A>G (p.Lys90Arg) c.752A>G (p.Lys251Arg) c.467A>G (p.Lys156Arg) c.285-15956T>C (n.285-15956T>C) c.266-350A>G (n.266-350A>G) c.347A>G (p.Lys116Arg) n.2283A>G c.636A>G c.519A>G | |
16 | g.72060313A>T | CA396677215 | HP,TXNL4B | c.644A>T (p.Lys215Ile) c.269A>T (p.Lys90Ile) c.752A>T (p.Lys251Ile) c.467A>T (p.Lys156Ile) c.285-15956T>A (n.285-15956T>A) c.266-350A>T (n.266-350A>T) c.347A>T (p.Lys116Ile) n.2283A>T c.636A>T c.519A>T | |
16 | g.72060314A>C | CA396677218 | HP,TXNL4B | c.645A>C (p.Lys215Asn) c.270A>C (p.Lys90Asn) c.753A>C (p.Lys251Asn) c.468A>C (p.Lys156Asn) c.285-15957T>G (n.285-15957T>G) c.266-349A>C (n.266-349A>C) c.348A>C (p.Lys116Asn) n.2284A>C c.637A>C c.520A>C | |
16 | g.72060314A>G | CA496414849 | HP,TXNL4B | c.645A>G (p.Lys215=) c.270A>G (p.Lys90=) c.753A>G (p.Lys251=) c.468A>G (p.Lys156=) c.285-15957T>C (n.285-15957T>C) c.266-349A>G (n.266-349A>G) c.348A>G (p.Lys116=) n.2284A>G c.637A>G c.520A>G | dbSNP gnomAD v4 |
16 | g.72060314A>T | CA396677221 | HP,TXNL4B | c.645A>T (p.Lys215Asn) c.270A>T (p.Lys90Asn) c.753A>T (p.Lys251Asn) c.468A>T (p.Lys156Asn) c.285-15957T>A (n.285-15957T>A) c.266-349A>T (n.266-349A>T) c.348A>T (p.Lys116Asn) n.2284A>T c.637A>T c.520A>T | |
16 | g.72060315G>A | CA396677224 | HP,TXNL4B | c.646G>A (p.Asp216Asn) c.271G>A (p.Asp91Asn) c.754G>A (p.Asp252Asn) c.469G>A (p.Asp157Asn) c.285-15958C>T (n.285-15958C>T) c.266-348G>A (n.266-348G>A) c.349G>A (p.Asp117Asn) n.2285G>A c.638G>A c.521G>A | |
16 | g.72060315G>C | CA396677226 | HP,TXNL4B | c.646G>C (p.Asp216His) c.271G>C (p.Asp91His) c.754G>C (p.Asp252His) c.469G>C (p.Asp157His) c.285-15958C>G (n.285-15958C>G) c.266-348G>C (n.266-348G>C) c.349G>C (p.Asp117His) n.2285G>C c.638G>C c.521G>C | gnomAD v4 |
16 | g.72060315G>T | CA396677229 | HP,TXNL4B | c.646G>T (p.Asp216Tyr) c.271G>T (p.Asp91Tyr) c.754G>T (p.Asp252Tyr) c.469G>T (p.Asp157Tyr) c.285-15958C>A (n.285-15958C>A) c.266-348G>T (n.266-348G>T) c.349G>T (p.Asp117Tyr) n.2285G>T c.638G>T c.521G>T | |
16 | g.72060316A>C | CA396677231 | HP,TXNL4B | c.647A>C (p.Asp216Ala) c.272A>C (p.Asp91Ala) c.755A>C (p.Asp252Ala) c.470A>C (p.Asp157Ala) c.285-15959T>G (n.285-15959T>G) c.266-347A>C (n.266-347A>C) c.350A>C (p.Asp117Ala) n.2286A>C c.639A>C c.522A>C | |
16 | g.72060316A>G | CA396677233 | HP,TXNL4B | c.647A>G (p.Asp216Gly) c.272A>G (p.Asp91Gly) c.755A>G (p.Asp252Gly) c.470A>G (p.Asp157Gly) c.285-15959T>C (n.285-15959T>C) c.266-347A>G (n.266-347A>G) c.350A>G (p.Asp117Gly) n.2286A>G c.639A>G c.522A>G | gnomAD v4 |
16 | g.72060316A>T | CA396677234 | HP,TXNL4B | c.647A>T (p.Asp216Val) c.272A>T (p.Asp91Val) c.755A>T (p.Asp252Val) c.470A>T (p.Asp157Val) c.285-15959T>A (n.285-15959T>A) c.266-347A>T (n.266-347A>T) c.350A>T (p.Asp117Val) n.2286A>T c.639A>T c.522A>T | |
16 | g.72060317C>A | CA396677237 | HP,TXNL4B | c.648C>A (p.Asp216Glu) c.273C>A (p.Asp91Glu) c.756C>A (p.Asp252Glu) c.471C>A (p.Asp157Glu) c.285-15960G>T (n.285-15960G>T) c.266-346C>A (n.266-346C>A) c.351C>A (p.Asp117Glu) n.2287C>A c.640C>A c.523C>A | |
16 | g.72060317C>G | CA396677238 | HP,TXNL4B | c.648C>G (p.Asp216Glu) c.273C>G (p.Asp91Glu) c.756C>G (p.Asp252Glu) c.471C>G (p.Asp157Glu) c.285-15960G>C (n.285-15960G>C) c.266-346C>G (n.266-346C>G) c.351C>G (p.Asp117Glu) n.2287C>G c.640C>G c.523C>G | |
16 | g.72060317C>T | CA496414851 | HP,TXNL4B | c.648C>T (p.Asp216=) c.273C>T (p.Asp91=) c.756C>T (p.Asp252=) c.471C>T (p.Asp157=) c.285-15960G>A (n.285-15960G>A) c.266-346C>T (n.266-346C>T) c.351C>T (p.Asp117=) n.2287C>T c.640C>T c.523C>T | |
16 | g.72060318A= | CA2231555203 | HP,TXNL4B | c.649A= (p.Ile217=) c.274A= (p.Ile92=) c.757A= (p.Ile253=) c.472A= (p.Ile158=) c.285-15961T= (n.285-15961T=) c.266-345A= (n.266-345A=) c.352A= (p.Ile118=) n.2288A= c.641A= c.524A= | |
16 | g.72060318A>C | CA396677240 | HP,TXNL4B | c.649A>C (p.Ile217Leu) c.274A>C (p.Ile92Leu) c.757A>C (p.Ile253Leu) c.472A>C (p.Ile158Leu) c.285-15961T>G (n.285-15961T>G) c.266-345A>C (n.266-345A>C) c.352A>C (p.Ile118Leu) n.2288A>C c.641A>C c.524A>C | |
16 | g.72060318A>G | CA8159157 | HP,TXNL4B | c.649A>G (p.Ile217Val) c.274A>G (p.Ile92Val) c.757A>G (p.Ile253Val) c.472A>G (p.Ile158Val) c.285-15961T>C (n.285-15961T>C) c.266-345A>G (n.266-345A>G) c.352A>G (p.Ile118Val) n.2288A>G c.641A>G c.524A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060318A>T | CA396677242 | HP,TXNL4B | c.649A>T (p.Ile217Phe) c.274A>T (p.Ile92Phe) c.757A>T (p.Ile253Phe) c.472A>T (p.Ile158Phe) c.285-15961T>A (n.285-15961T>A) c.266-345A>T (n.266-345A>T) c.352A>T (p.Ile118Phe) n.2288A>T c.641A>T c.524A>T | |
16 | g.72060319T>A | CA396677243 | HP,TXNL4B | c.650T>A (p.Ile217Asn) c.275T>A (p.Ile92Asn) c.758T>A (p.Ile253Asn) c.473T>A (p.Ile158Asn) c.285-15962A>T (n.285-15962A>T) c.266-344T>A (n.266-344T>A) c.353T>A (p.Ile118Asn) n.2289T>A c.642T>A c.525T>A | |
16 | g.72060319T>C | CA8159158 | HP,TXNL4B | c.650T>C (p.Ile217Thr) c.275T>C (p.Ile92Thr) c.758T>C (p.Ile253Thr) c.473T>C (p.Ile158Thr) c.285-15962A>G (n.285-15962A>G) c.266-344T>C (n.266-344T>C) c.353T>C (p.Ile118Thr) n.2289T>C c.642T>C c.525T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060319T>G | CA396677244 | HP,TXNL4B | c.650T>G (p.Ile217Ser) c.275T>G (p.Ile92Ser) c.758T>G (p.Ile253Ser) c.473T>G (p.Ile158Ser) c.285-15962A>C (n.285-15962A>C) c.266-344T>G (n.266-344T>G) c.353T>G (p.Ile118Ser) n.2289T>G c.642T>G c.525T>G | |
16 | g.72060319T= | CA2231555204 | HP,TXNL4B | c.650T= (p.Ile217=) c.275T= (p.Ile92=) c.758T= (p.Ile253=) c.473T= (p.Ile158=) c.285-15962A= (n.285-15962A=) c.266-344T= (n.266-344T=) c.353T= (p.Ile118=) n.2289T= c.642T= c.525T= | |
16 | g.72060320T>A | CA496414853 | HP,TXNL4B | c.651T>A (p.Ile217=) c.276T>A (p.Ile92=) c.759T>A (p.Ile253=) c.474T>A (p.Ile158=) c.285-15963A>T (n.285-15963A>T) c.266-343T>A (n.266-343T>A) c.354T>A (p.Ile118=) n.2290T>A c.643T>A c.526T>A | |
16 | g.72060320T>C | CA496414854 | HP,TXNL4B | c.651T>C (p.Ile217=) c.276T>C (p.Ile92=) c.759T>C (p.Ile253=) c.474T>C (p.Ile158=) c.285-15963A>G (n.285-15963A>G) c.266-343T>C (n.266-343T>C) c.354T>C (p.Ile118=) n.2290T>C c.643T>C c.526T>C | gnomAD v4 |
16 | g.72060320T>G | CA396677246 | HP,TXNL4B | c.651T>G (p.Ile217Met) c.276T>G (p.Ile92Met) c.759T>G (p.Ile253Met) c.474T>G (p.Ile158Met) c.285-15963A>C (n.285-15963A>C) c.266-343T>G (n.266-343T>G) c.354T>G (p.Ile118Met) n.2290T>G c.643T>G c.526T>G | |
16 | g.72060321G>A | CA396677248 | HP,TXNL4B | c.652G>A (p.Ala218Thr) c.277G>A (p.Ala93Thr) c.760G>A (p.Ala254Thr) c.475G>A (p.Ala159Thr) c.285-15964C>T (n.285-15964C>T) c.266-342G>A (n.266-342G>A) c.355G>A (p.Ala119Thr) n.2291G>A c.644G>A c.527G>A | gnomAD v4 |
16 | g.72060321G>C | CA396677250 | HP,TXNL4B | c.652G>C (p.Ala218Pro) c.277G>C (p.Ala93Pro) c.760G>C (p.Ala254Pro) c.475G>C (p.Ala159Pro) c.285-15964C>G (n.285-15964C>G) c.266-342G>C (n.266-342G>C) c.355G>C (p.Ala119Pro) n.2291G>C c.644G>C c.527G>C | |
16 | g.72060321G>T | CA396677252 | HP,TXNL4B | c.652G>T (p.Ala218Ser) c.277G>T (p.Ala93Ser) c.760G>T (p.Ala254Ser) c.475G>T (p.Ala159Ser) c.285-15964C>A (n.285-15964C>A) c.266-342G>T (n.266-342G>T) c.355G>T (p.Ala119Ser) n.2291G>T c.644G>T c.527G>T | |
16 | g.72060322C>A | CA8159160 | HP,TXNL4B | c.653C>A (p.Ala218Asp) c.278C>A (p.Ala93Asp) c.761C>A (p.Ala254Asp) c.476C>A (p.Ala159Asp) c.285-15965G>T (n.285-15965G>T) c.266-341C>A (n.266-341C>A) c.356C>A (p.Ala119Asp) n.2292C>A c.645C>A c.528C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060322C= | CA2231555205 | HP,TXNL4B | c.653C= (p.Ala218=) c.278C= (p.Ala93=) c.761C= (p.Ala254=) c.476C= (p.Ala159=) c.285-15965G= (n.285-15965G=) c.266-341C= (n.266-341C=) c.356C= (p.Ala119=) n.2292C= c.645C= c.528C= | |
16 | g.72060322C>G | CA396677253 | HP,TXNL4B | c.653C>G (p.Ala218Gly) c.278C>G (p.Ala93Gly) c.761C>G (p.Ala254Gly) c.476C>G (p.Ala159Gly) c.285-15965G>C (n.285-15965G>C) c.266-341C>G (n.266-341C>G) c.356C>G (p.Ala119Gly) n.2292C>G c.645C>G c.528C>G | |
16 | g.72060322C>T | CA8159159 | HP,TXNL4B | c.653C>T (p.Ala218Val) c.278C>T (p.Ala93Val) c.761C>T (p.Ala254Val) c.476C>T (p.Ala159Val) c.285-15965G>A (n.285-15965G>A) c.266-341C>T (n.266-341C>T) c.356C>T (p.Ala119Val) n.2292C>T c.645C>T c.528C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060323C>A | CA496414855 | HP,TXNL4B | c.654C>A (p.Ala218=) c.279C>A (p.Ala93=) c.762C>A (p.Ala254=) c.477C>A (p.Ala159=) c.285-15966G>T (n.285-15966G>T) c.266-340C>A (n.266-340C>A) c.357C>A (p.Ala119=) n.2293C>A c.646C>A c.529C>A | |
16 | g.72060323C= | CA2231555206 | HP,TXNL4B | c.654C= (p.Ala218=) c.279C= (p.Ala93=) c.762C= (p.Ala254=) c.477C= (p.Ala159=) c.285-15966G= (n.285-15966G=) c.266-340C= (n.266-340C=) c.357C= (p.Ala119=) n.2293C= c.646C= c.529C= | |
16 | g.72060323C>G | CA496414856 | HP,TXNL4B | c.654C>G (p.Ala218=) c.279C>G (p.Ala93=) c.762C>G (p.Ala254=) c.477C>G (p.Ala159=) c.285-15966G>C (n.285-15966G>C) c.266-340C>G (n.266-340C>G) c.357C>G (p.Ala119=) n.2293C>G c.646C>G c.529C>G | dbSNP |
16 | g.72060323C>T | CA496414857 | HP,TXNL4B | c.654C>T (p.Ala218=) c.279C>T (p.Ala93=) c.762C>T (p.Ala254=) c.477C>T (p.Ala159=) c.285-15966G>A (n.285-15966G>A) c.266-340C>T (n.266-340C>T) c.357C>T (p.Ala119=) n.2293C>T c.646C>T c.529C>T | gnomAD v4 |
16 | g.72060324C>A | CA396677260 | HP,TXNL4B | c.655C>A (p.Pro219Thr) c.280C>A (p.Pro94Thr) c.763C>A (p.Pro255Thr) c.478C>A (p.Pro160Thr) c.285-15967G>T (n.285-15967G>T) c.266-339C>A (n.266-339C>A) c.358C>A (p.Pro120Thr) n.2294C>A c.647C>A c.530C>A | |
16 | g.72060324C>G | CA396677257 | HP,TXNL4B | c.655C>G (p.Pro219Ala) c.280C>G (p.Pro94Ala) c.763C>G (p.Pro255Ala) c.478C>G (p.Pro160Ala) c.285-15967G>C (n.285-15967G>C) c.266-339C>G (n.266-339C>G) c.358C>G (p.Pro120Ala) n.2294C>G c.647C>G c.530C>G | |
16 | g.72060324C>T | CA396677258 | HP,TXNL4B | c.655C>T (p.Pro219Ser) c.280C>T (p.Pro94Ser) c.763C>T (p.Pro255Ser) c.478C>T (p.Pro160Ser) c.285-15967G>A (n.285-15967G>A) c.266-339C>T (n.266-339C>T) c.358C>T (p.Pro120Ser) n.2294C>T c.647C>T c.530C>T | gnomAD v4 |
16 | g.72060325C>A | CA396677262 | HP,TXNL4B | c.656C>A (p.Pro219His) c.281C>A (p.Pro94His) c.764C>A (p.Pro255His) c.479C>A (p.Pro160His) c.285-15968G>T (n.285-15968G>T) c.266-338C>A (n.266-338C>A) c.359C>A (p.Pro120His) n.2295C>A c.648C>A c.531C>A | |
16 | g.72060325C>G | CA396677264 | HP,TXNL4B | c.656C>G (p.Pro219Arg) c.281C>G (p.Pro94Arg) c.764C>G (p.Pro255Arg) c.479C>G (p.Pro160Arg) c.285-15968G>C (n.285-15968G>C) c.266-338C>G (n.266-338C>G) c.359C>G (p.Pro120Arg) n.2295C>G c.648C>G c.531C>G | |
16 | g.72060325C>T | CA396677265 | HP,TXNL4B | c.656C>T (p.Pro219Leu) c.281C>T (p.Pro94Leu) c.764C>T (p.Pro255Leu) c.479C>T (p.Pro160Leu) c.285-15968G>A (n.285-15968G>A) c.266-338C>T (n.266-338C>T) c.359C>T (p.Pro120Leu) n.2295C>T c.648C>T c.531C>T | gnomAD v4 |
16 | g.72060326T>A | CA496414858 | HP,TXNL4B | c.657T>A (p.Pro219=) c.282T>A (p.Pro94=) c.765T>A (p.Pro255=) c.480T>A (p.Pro160=) c.285-15969A>T (n.285-15969A>T) c.266-337T>A (n.266-337T>A) c.360T>A (p.Pro120=) n.2296T>A c.649T>A c.532T>A | |
16 | g.72060326T>C | CA496414859 | HP,TXNL4B | c.657T>C (p.Pro219=) c.282T>C (p.Pro94=) c.765T>C (p.Pro255=) c.480T>C (p.Pro160=) c.285-15969A>G (n.285-15969A>G) c.266-337T>C (n.266-337T>C) c.360T>C (p.Pro120=) n.2296T>C c.649T>C c.532T>C | |
16 | g.72060326T>G | CA496414860 | HP,TXNL4B | c.657T>G (p.Pro219=) c.282T>G (p.Pro94=) c.765T>G (p.Pro255=) c.480T>G (p.Pro160=) c.285-15969A>C (n.285-15969A>C) c.266-337T>G (n.266-337T>G) c.360T>G (p.Pro120=) n.2296T>G c.649T>G c.532T>G | |
16 | g.72060327A>C | CA396677267 | HP,TXNL4B | c.658A>C (p.Thr220Pro) c.283A>C (p.Thr95Pro) c.766A>C (p.Thr256Pro) c.481A>C (p.Thr161Pro) c.285-15970T>G (n.285-15970T>G) c.266-336A>C (n.266-336A>C) c.361A>C (p.Thr121Pro) n.2297A>C c.650A>C c.533A>C | gnomAD v4 |
16 | g.72060327A>G | CA396677269 | HP,TXNL4B | c.658A>G (p.Thr220Ala) c.283A>G (p.Thr95Ala) c.766A>G (p.Thr256Ala) c.481A>G (p.Thr161Ala) c.285-15970T>C (n.285-15970T>C) c.266-336A>G (n.266-336A>G) c.361A>G (p.Thr121Ala) n.2297A>G c.650A>G c.533A>G | |
16 | g.72060327A>T | CA396677271 | HP,TXNL4B | c.658A>T (p.Thr220Ser) c.283A>T (p.Thr95Ser) c.766A>T (p.Thr256Ser) c.481A>T (p.Thr161Ser) c.285-15970T>A (n.285-15970T>A) c.266-336A>T (n.266-336A>T) c.361A>T (p.Thr121Ser) n.2297A>T c.650A>T c.533A>T | |
16 | g.72060328C>A | CA8159161 | HP,TXNL4B | c.659C>A (p.Thr220Asn) c.284C>A (p.Thr95Asn) c.767C>A (p.Thr256Asn) c.482C>A (p.Thr161Asn) c.285-15971G>T (n.285-15971G>T) c.266-335C>A (n.266-335C>A) c.362C>A (p.Thr121Asn) n.2298C>A c.651C>A c.534C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060328C= | CA2231555207 | HP,TXNL4B | c.659C= (p.Thr220=) c.284C= (p.Thr95=) c.767C= (p.Thr256=) c.482C= (p.Thr161=) c.285-15971G= (n.285-15971G=) c.266-335C= (n.266-335C=) c.362C= (p.Thr121=) n.2298C= c.651C= c.534C= | |
16 | g.72060328C>G | CA396677274 | HP,TXNL4B | c.659C>G (p.Thr220Ser) c.284C>G (p.Thr95Ser) c.767C>G (p.Thr256Ser) c.482C>G (p.Thr161Ser) c.285-15971G>C (n.285-15971G>C) c.266-335C>G (n.266-335C>G) c.362C>G (p.Thr121Ser) n.2298C>G c.651C>G c.534C>G | |
16 | g.72060328C>T | CA8159162 | HP,TXNL4B | c.659C>T (p.Thr220Ile) c.284C>T (p.Thr95Ile) c.767C>T (p.Thr256Ile) c.482C>T (p.Thr161Ile) c.285-15971G>A (n.285-15971G>A) c.266-335C>T (n.266-335C>T) c.362C>T (p.Thr121Ile) n.2298C>T c.651C>T c.534C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
16 | g.72060329T>A | CA496414861 | HP,TXNL4B | c.660T>A (p.Thr220=) c.285T>A (p.Thr95=) c.768T>A (p.Thr256=) c.483T>A (p.Thr161=) c.285-15972A>T (n.285-15972A>T) c.266-334T>A (n.266-334T>A) c.363T>A (p.Thr121=) n.2299T>A c.652T>A c.535T>A | |
16 | g.72060329T>C | CA496414862 | HP,TXNL4B | c.660T>C (p.Thr220=) c.285T>C (p.Thr95=) c.768T>C (p.Thr256=) c.483T>C (p.Thr161=) c.285-15972A>G (n.285-15972A>G) c.266-334T>C (n.266-334T>C) c.363T>C (p.Thr121=) n.2299T>C c.652T>C c.535T>C | |
16 | g.72060329T>G | CA496414863 | HP,TXNL4B | c.660T>G (p.Thr220=) c.285T>G (p.Thr95=) c.768T>G (p.Thr256=) c.483T>G (p.Thr161=) c.285-15972A>C (n.285-15972A>C) c.266-334T>G (n.266-334T>G) c.363T>G (p.Thr121=) n.2299T>G c.652T>G c.535T>G | |
16 | g.72060330T>A | CA396677276 | HP,TXNL4B | c.661T>A (p.Leu221Ile) c.286T>A (p.Leu96Ile) c.769T>A (p.Leu257Ile) c.484T>A (p.Leu162Ile) c.285-15973A>T (n.285-15973A>T) c.266-333T>A (n.266-333T>A) c.364T>A (p.Leu122Ile) n.2300T>A c.653T>A c.536T>A | |
16 | g.72060330T>C | CA496414864 | HP,TXNL4B | c.661T>C (p.Leu221=) c.286T>C (p.Leu96=) c.769T>C (p.Leu257=) c.484T>C (p.Leu162=) c.285-15973A>G (n.285-15973A>G) c.266-333T>C (n.266-333T>C) c.364T>C (p.Leu122=) n.2300T>C c.653T>C c.536T>C | |
16 | g.72060330T>G | CA396677277 | HP,TXNL4B | c.661T>G (p.Leu221Val) c.286T>G (p.Leu96Val) c.769T>G (p.Leu257Val) c.484T>G (p.Leu162Val) c.285-15973A>C (n.285-15973A>C) c.266-333T>G (n.266-333T>G) c.364T>G (p.Leu122Val) n.2300T>G c.653T>G c.536T>G | |
16 | g.72060331T>A | CA396677279 | HP,TXNL4B | c.662T>A (p.Leu221Ter) c.287T>A (p.Leu96Ter) c.770T>A (p.Leu257Ter) c.485T>A (p.Leu162Ter) c.285-15974A>T (n.285-15974A>T) c.266-332T>A (n.266-332T>A) c.365T>A (p.Leu122Ter) n.2301T>A c.654T>A c.537T>A | |
16 | g.72060331T>C | CA396677281 | HP,TXNL4B | c.662T>C (p.Leu221Ser) c.287T>C (p.Leu96Ser) c.770T>C (p.Leu257Ser) c.485T>C (p.Leu162Ser) c.285-15974A>G (n.285-15974A>G) c.266-332T>C (n.266-332T>C) c.365T>C (p.Leu122Ser) n.2301T>C c.654T>C c.537T>C | |
16 | g.72060331T>G | CA396677282 | HP,TXNL4B | c.662T>G (p.Leu221Ter) c.287T>G (p.Leu96Ter) c.770T>G (p.Leu257Ter) c.485T>G (p.Leu162Ter) c.285-15974A>C (n.285-15974A>C) c.266-332T>G (n.266-332T>G) c.365T>G (p.Leu122Ter) n.2301T>G c.654T>G c.537T>G | |
16 | g.72060332A>C | CA396677286 | HP,TXNL4B | c.663A>C (p.Leu221Phe) c.288A>C (p.Leu96Phe) c.771A>C (p.Leu257Phe) c.486A>C (p.Leu162Phe) c.285-15975T>G (n.285-15975T>G) c.266-331A>C (n.266-331A>C) c.366A>C (p.Leu122Phe) n.2302A>C c.655A>C c.538A>C | |
16 | g.72060332A>G | CA496414865 | HP,TXNL4B | c.663A>G (p.Leu221=) c.288A>G (p.Leu96=) c.771A>G (p.Leu257=) c.486A>G (p.Leu162=) c.285-15975T>C (n.285-15975T>C) c.266-331A>G (n.266-331A>G) c.366A>G (p.Leu122=) n.2302A>G c.655A>G c.538A>G | |
16 | g.72060332A>T | CA396677284 | HP,TXNL4B | c.663A>T (p.Leu221Phe) c.288A>T (p.Leu96Phe) c.771A>T (p.Leu257Phe) c.486A>T (p.Leu162Phe) c.285-15975T>A (n.285-15975T>A) c.266-331A>T (n.266-331A>T) c.366A>T (p.Leu122Phe) n.2302A>T c.655A>T c.538A>T | |
16 | g.72060333A= | CA2231555208 | HP,TXNL4B | c.664A= (p.Thr222=) c.289A= (p.Thr97=) c.772A= (p.Thr258=) c.487A= (p.Thr163=) c.285-15976T= (n.285-15976T=) c.266-330A= (n.266-330A=) c.367A= (p.Thr123=) n.2303A= c.656A= c.539A= | |
16 | g.72060333A>C | CA8159163 | HP,TXNL4B | c.664A>C (p.Thr222Pro) c.289A>C (p.Thr97Pro) c.772A>C (p.Thr258Pro) c.487A>C (p.Thr163Pro) c.285-15976T>G (n.285-15976T>G) c.266-330A>C (n.266-330A>C) c.367A>C (p.Thr123Pro) n.2303A>C c.656A>C c.539A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060333A>G | CA396677289 | HP,TXNL4B | c.664A>G (p.Thr222Ala) c.289A>G (p.Thr97Ala) c.772A>G (p.Thr258Ala) c.487A>G (p.Thr163Ala) c.285-15976T>C (n.285-15976T>C) c.266-330A>G (n.266-330A>G) c.367A>G (p.Thr123Ala) n.2303A>G c.656A>G c.539A>G | |
16 | g.72060333A>T | CA396677291 | HP,TXNL4B | c.664A>T (p.Thr222Ser) c.289A>T (p.Thr97Ser) c.772A>T (p.Thr258Ser) c.487A>T (p.Thr163Ser) c.285-15976T>A (n.285-15976T>A) c.266-330A>T (n.266-330A>T) c.367A>T (p.Thr123Ser) n.2303A>T c.656A>T c.539A>T | |
16 | g.72060334C>A | CA396677298 | HP,TXNL4B | c.665C>A (p.Thr222Lys) c.290C>A (p.Thr97Lys) c.773C>A (p.Thr258Lys) c.488C>A (p.Thr163Lys) c.285-15977G>T (n.285-15977G>T) c.266-329C>A (n.266-329C>A) c.368C>A (p.Thr123Lys) n.2304C>A c.657C>A c.540C>A | |
16 | g.72060334C>G | CA396677299 | HP,TXNL4B | c.665C>G (p.Thr222Arg) c.290C>G (p.Thr97Arg) c.773C>G (p.Thr258Arg) c.488C>G (p.Thr163Arg) c.285-15977G>C (n.285-15977G>C) c.266-329C>G (n.266-329C>G) c.368C>G (p.Thr123Arg) n.2304C>G c.657C>G c.540C>G | |
16 | g.72060334C>T | CA396677300 | HP,TXNL4B | c.665C>T (p.Thr222Ile) c.290C>T (p.Thr97Ile) c.773C>T (p.Thr258Ile) c.488C>T (p.Thr163Ile) c.285-15977G>A (n.285-15977G>A) c.266-329C>T (n.266-329C>T) c.368C>T (p.Thr123Ile) n.2304C>T c.657C>T c.540C>T | |
16 | g.72060335A>C | CA496414868 | HP,TXNL4B | c.666A>C (p.Thr222=) c.291A>C (p.Thr97=) c.774A>C (p.Thr258=) c.489A>C (p.Thr163=) c.285-15978T>G (n.285-15978T>G) c.266-328A>C (n.266-328A>C) c.369A>C (p.Thr123=) n.2305A>C c.658A>C c.541A>C | |
16 | g.72060335A>G | CA496414866 | HP,TXNL4B | c.666A>G (p.Thr222=) c.291A>G (p.Thr97=) c.774A>G (p.Thr258=) c.489A>G (p.Thr163=) c.285-15978T>C (n.285-15978T>C) c.266-328A>G (n.266-328A>G) c.369A>G (p.Thr123=) n.2305A>G c.658A>G c.541A>G | |
16 | g.72060335A>T | CA496414867 | HP,TXNL4B | c.666A>T (p.Thr222=) c.291A>T (p.Thr97=) c.774A>T (p.Thr258=) c.489A>T (p.Thr163=) c.285-15978T>A (n.285-15978T>A) c.266-328A>T (n.266-328A>T) c.369A>T (p.Thr123=) n.2305A>T c.658A>T c.541A>T | |
16 | g.72060336C>A | CA396677302 | HP,TXNL4B | c.667C>A (p.Leu223Ile) c.292C>A (p.Leu98Ile) c.775C>A (p.Leu259Ile) c.490C>A (p.Leu164Ile) c.285-15979G>T (n.285-15979G>T) c.266-327C>A (n.266-327C>A) c.370C>A (p.Leu124Ile) n.2306C>A c.659C>A c.542C>A | |
16 | g.72060336C>G | CA396677303 | HP,TXNL4B | c.667C>G (p.Leu223Val) c.292C>G (p.Leu98Val) c.775C>G (p.Leu259Val) c.490C>G (p.Leu164Val) c.285-15979G>C (n.285-15979G>C) c.266-327C>G (n.266-327C>G) c.370C>G (p.Leu124Val) n.2306C>G c.659C>G c.542C>G | |
16 | g.72060336C>T | CA396677305 | HP,TXNL4B | c.667C>T (p.Leu223Phe) c.292C>T (p.Leu98Phe) c.775C>T (p.Leu259Phe) c.490C>T (p.Leu164Phe) c.285-15979G>A (n.285-15979G>A) c.266-327C>T (n.266-327C>T) c.370C>T (p.Leu124Phe) n.2306C>T c.659C>T c.542C>T | |
16 | g.72060338_72060339del | CA2634177603 | HP,TXNL4B | c.669_670del (p.Tyr224CysfsTer10) c.294_295del (p.Tyr99CysfsTer10) c.777_778del (p.Tyr260CysfsTer10) c.492_493del (p.Tyr165CysfsTer10) c.285-15980_285-15979del (n.285-15980_285-15979del) c.266-325_266-324del (n.266-325_266-324del) c.372_373del (p.Tyr125CysfsTer10) n.2308_2309del c.661_662del c.544_545del | gnomAD v4 |
16 | g.72060337T>A | CA396677306 | HP,TXNL4B | c.668T>A (p.Leu223His) c.293T>A (p.Leu98His) c.776T>A (p.Leu259His) c.491T>A (p.Leu164His) c.285-15980A>T (n.285-15980A>T) c.266-326T>A (n.266-326T>A) c.371T>A (p.Leu124His) n.2307T>A c.660T>A c.543T>A | |
16 | g.72060337T>C | CA396677308 | HP,TXNL4B | c.668T>C (p.Leu223Pro) c.293T>C (p.Leu98Pro) c.776T>C (p.Leu259Pro) c.491T>C (p.Leu164Pro) c.285-15980A>G (n.285-15980A>G) c.266-326T>C (n.266-326T>C) c.371T>C (p.Leu124Pro) n.2307T>C c.660T>C c.543T>C | gnomAD v4 |
16 | g.72060337T>G | CA396677310 | HP,TXNL4B | c.668T>G (p.Leu223Arg) c.293T>G (p.Leu98Arg) c.776T>G (p.Leu259Arg) c.491T>G (p.Leu164Arg) c.285-15980A>C (n.285-15980A>C) c.266-326T>G (n.266-326T>G) c.371T>G (p.Leu124Arg) n.2307T>G c.660T>G c.543T>G | |
16 | g.72060338C>A | CA496414869 | HP,TXNL4B | c.669C>A (p.Leu223=) c.294C>A (p.Leu98=) c.777C>A (p.Leu259=) c.492C>A (p.Leu164=) c.285-15981G>T (n.285-15981G>T) c.266-325C>A (n.266-325C>A) c.372C>A (p.Leu124=) n.2308C>A c.661C>A c.544C>A | |
16 | g.72060338C= | CA2231555209 | HP,TXNL4B | c.669C= (p.Leu223=) c.294C= (p.Leu98=) c.777C= (p.Leu259=) c.492C= (p.Leu164=) c.285-15981G= (n.285-15981G=) c.266-325C= (n.266-325C=) c.372C= (p.Leu124=) n.2308C= c.661C= c.544C= | |
16 | g.72060338C>G | CA8159164 | HP,TXNL4B | c.669C>G (p.Leu223=) c.294C>G (p.Leu98=) c.777C>G (p.Leu259=) c.492C>G (p.Leu164=) c.285-15981G>C (n.285-15981G>C) c.266-325C>G (n.266-325C>G) c.372C>G (p.Leu124=) n.2308C>G c.661C>G c.544C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060338C>T | CA496414870 | HP,TXNL4B | c.669C>T (p.Leu223=) c.294C>T (p.Leu98=) c.777C>T (p.Leu259=) c.492C>T (p.Leu164=) c.285-15981G>A (n.285-15981G>A) c.266-325C>T (n.266-325C>T) c.372C>T (p.Leu124=) n.2308C>T c.661C>T c.544C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060338_72060340delinsCTA | CA2231555210 | HP,TXNL4B | c.669_671delinsCTA (p.Leu223=) c.294_296delinsCTA (p.Leu98=) c.777_779delinsCTA (p.Leu259=) c.492_494delinsCTA (p.Leu164=) c.285-15983_285-15981delinsTAG (n.285-15983_285-15981delinsTAG) c.266-325_266-323delinsCTA (n.266-325_266-323delinsCTA) c.372_374delinsCTA (p.Leu124=) n.2308_2310delinsCTA c.661_663delinsCTA c.544_546delinsCTA | |
16 | g.72060339T>A | CA396677313 | HP,TXNL4B | c.670T>A (p.Tyr224Asn) c.295T>A (p.Tyr99Asn) c.778T>A (p.Tyr260Asn) c.493T>A (p.Tyr165Asn) c.285-15982A>T (n.285-15982A>T) c.266-324T>A (n.266-324T>A) c.373T>A (p.Tyr125Asn) n.2309T>A c.662T>A c.545T>A | |
16 | g.72060339T>C | CA396677317 | HP,TXNL4B | c.670T>C (p.Tyr224His) c.295T>C (p.Tyr99His) c.778T>C (p.Tyr260His) c.493T>C (p.Tyr165His) c.285-15982A>G (n.285-15982A>G) c.266-324T>C (n.266-324T>C) c.373T>C (p.Tyr125His) n.2309T>C c.662T>C c.545T>C | |
16 | g.72060339T>G | CA396677315 | HP,TXNL4B | c.670T>G (p.Tyr224Asp) c.295T>G (p.Tyr99Asp) c.778T>G (p.Tyr260Asp) c.493T>G (p.Tyr165Asp) c.285-15982A>C (n.285-15982A>C) c.266-324T>G (n.266-324T>G) c.373T>G (p.Tyr125Asp) n.2309T>G c.662T>G c.545T>G | |
16 | g.72060340_72060341del | CA978811038 | HP,TXNL4B | c.671_672del (p.Tyr224CysfsTer10) c.296_297del (p.Tyr99CysfsTer10) c.779_780del (p.Tyr260CysfsTer10) c.494_495del (p.Tyr165CysfsTer10) c.285-15983_285-15982del (n.285-15983_285-15982del) c.266-323_266-322del (n.266-323_266-322del) c.374_375del (p.Tyr125CysfsTer10) n.2310_2311del c.663_664del c.546_547del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060340A= | CA2231555211 | HP,TXNL4B | c.671A= (p.Tyr224=) c.296A= (p.Tyr99=) c.779A= (p.Tyr260=) c.494A= (p.Tyr165=) c.285-15983T= (n.285-15983T=) c.266-323A= (n.266-323A=) c.374A= (p.Tyr125=) n.2310A= c.663A= c.546A= | |
16 | g.72060340A>C | CA396677320 | HP,TXNL4B | c.671A>C (p.Tyr224Ser) c.296A>C (p.Tyr99Ser) c.779A>C (p.Tyr260Ser) c.494A>C (p.Tyr165Ser) c.285-15983T>G (n.285-15983T>G) c.266-323A>C (n.266-323A>C) c.374A>C (p.Tyr125Ser) n.2310A>C c.663A>C c.546A>C | |
16 | g.72060340A>G | CA8159165 | HP,TXNL4B | c.671A>G (p.Tyr224Cys) c.296A>G (p.Tyr99Cys) c.779A>G (p.Tyr260Cys) c.494A>G (p.Tyr165Cys) c.285-15983T>C (n.285-15983T>C) c.266-323A>G (n.266-323A>G) c.374A>G (p.Tyr125Cys) n.2310A>G c.663A>G c.546A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060340A>T | CA396677321 | HP,TXNL4B | c.671A>T (p.Tyr224Phe) c.296A>T (p.Tyr99Phe) c.779A>T (p.Tyr260Phe) c.494A>T (p.Tyr165Phe) c.285-15983T>A (n.285-15983T>A) c.266-323A>T (n.266-323A>T) c.374A>T (p.Tyr125Phe) n.2310A>T c.663A>T c.546A>T | dbSNP |
16 | g.72060341T>A | CA396677323 | HP,TXNL4B | c.672T>A (p.Tyr224Ter) c.297T>A (p.Tyr99Ter) c.780T>A (p.Tyr260Ter) c.495T>A (p.Tyr165Ter) c.285-15984A>T (n.285-15984A>T) c.266-322T>A (n.266-322T>A) c.375T>A (p.Tyr125Ter) n.2311T>A c.664T>A c.547T>A | |
16 | g.72060341T>C | CA496414871 | HP,TXNL4B | c.672T>C (p.Tyr224=) c.297T>C (p.Tyr99=) c.780T>C (p.Tyr260=) c.495T>C (p.Tyr165=) c.285-15984A>G (n.285-15984A>G) c.266-322T>C (n.266-322T>C) c.375T>C (p.Tyr125=) n.2311T>C c.664T>C c.547T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060341T>G | CA396677325 | HP,TXNL4B | c.672T>G (p.Tyr224Ter) c.297T>G (p.Tyr99Ter) c.780T>G (p.Tyr260Ter) c.495T>G (p.Tyr165Ter) c.285-15984A>C (n.285-15984A>C) c.266-322T>G (n.266-322T>G) c.375T>G (p.Tyr125Ter) n.2311T>G c.664T>G c.547T>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060341T= | CA2231555212 | HP,TXNL4B | c.672T= (p.Tyr224=) c.297T= (p.Tyr99=) c.780T= (p.Tyr260=) c.495T= (p.Tyr165=) c.285-15984A= (n.285-15984A=) c.266-322T= (n.266-322T=) c.375T= (p.Tyr125=) n.2311T= c.664T= c.547T= | |
16 | g.72060342G>A | CA396677330 | HP,TXNL4B | c.673G>A (p.Val225Met) c.298G>A (p.Val100Met) c.781G>A (p.Val261Met) c.496G>A (p.Val166Met) c.285-15985C>T (n.285-15985C>T) c.266-321G>A (n.266-321G>A) c.376G>A (p.Val126Met) n.2312G>A c.665G>A c.548G>A | |
16 | g.72060342G>C | CA396677332 | HP,TXNL4B | c.673G>C (p.Val225Leu) c.298G>C (p.Val100Leu) c.781G>C (p.Val261Leu) c.496G>C (p.Val166Leu) c.285-15985C>G (n.285-15985C>G) c.266-321G>C (n.266-321G>C) c.376G>C (p.Val126Leu) n.2312G>C c.665G>C c.548G>C | |
16 | g.72060342G>T | CA396677333 | HP,TXNL4B | c.673G>T (p.Val225Leu) c.298G>T (p.Val100Leu) c.781G>T (p.Val261Leu) c.496G>T (p.Val166Leu) c.285-15985C>A (n.285-15985C>A) c.266-321G>T (n.266-321G>T) c.376G>T (p.Val126Leu) n.2312G>T c.665G>T c.548G>T | |
16 | g.72060342_72060343delinsGT | CA2231555213 | HP,TXNL4B | c.673_674delinsGT (p.Val225=) c.298_299delinsGT (p.Val100=) c.781_782delinsGT (p.Val261=) c.496_497delinsGT (p.Val166=) c.285-15986_285-15985delinsAC (n.285-15986_285-15985delinsAC) c.266-321_266-320delinsGT (n.266-321_266-320delinsGT) c.376_377delinsGT (p.Val126=) n.2312_2313delinsGT c.665_666delinsGT c.548_549delinsGT | |
16 | g.72060343del | CA2231555214 | HP,TXNL4B | c.674del (p.Val225GlyfsTer7) c.299del (p.Val100GlyfsTer7) c.782del (p.Val261GlyfsTer7) c.497del (p.Val166GlyfsTer7) c.285-15986del (n.285-15986del) c.266-320del (n.266-320del) c.377del (p.Val126GlyfsTer7) n.2313del c.666del c.549del | dbSNP |
16 | g.72060343T>A | CA396677335 | HP,TXNL4B | c.674T>A (p.Val225Glu) c.299T>A (p.Val100Glu) c.782T>A (p.Val261Glu) c.497T>A (p.Val166Glu) c.285-15986A>T (n.285-15986A>T) c.266-320T>A (n.266-320T>A) c.377T>A (p.Val126Glu) n.2313T>A c.666T>A c.549T>A | gnomAD v4 |
16 | g.72060343T>C | CA396677337 | HP,TXNL4B | c.674T>C (p.Val225Ala) c.299T>C (p.Val100Ala) c.782T>C (p.Val261Ala) c.497T>C (p.Val166Ala) c.285-15986A>G (n.285-15986A>G) c.266-320T>C (n.266-320T>C) c.377T>C (p.Val126Ala) n.2313T>C c.666T>C c.549T>C | gnomAD v4 |
16 | g.72060343T>G | CA396677339 | HP,TXNL4B | c.674T>G (p.Val225Gly) c.299T>G (p.Val100Gly) c.782T>G (p.Val261Gly) c.497T>G (p.Val166Gly) c.285-15986A>C (n.285-15986A>C) c.266-320T>G (n.266-320T>G) c.377T>G (p.Val126Gly) n.2313T>G c.666T>G c.549T>G | |
16 | g.72060343_72060344delinsTG | CA2231555215 | HP,TXNL4B | c.674_675delinsTG (p.Val225=) c.299_300delinsTG (p.Val100=) c.782_783delinsTG (p.Val261=) c.497_498delinsTG (p.Val166=) c.285-15987_285-15986delinsCA (n.285-15987_285-15986delinsCA) c.266-320_266-319delinsTG (n.266-320_266-319delinsTG) c.377_378delinsTG (p.Val126=) n.2313_2314delinsTG c.666_667delinsTG c.549_550delinsTG | |
16 | g.72060344G>A | CA496414872 | HP,TXNL4B | c.675G>A (p.Val225=) c.300G>A (p.Val100=) c.783G>A (p.Val261=) c.498G>A (p.Val166=) c.285-15987C>T (n.285-15987C>T) c.266-319G>A (n.266-319G>A) c.378G>A (p.Val126=) n.2314G>A c.667G>A c.550G>A | |
16 | g.72060344G>C | CA496414873 | HP,TXNL4B | c.675G>C (p.Val225=) c.300G>C (p.Val100=) c.783G>C (p.Val261=) c.498G>C (p.Val166=) c.285-15987C>G (n.285-15987C>G) c.266-319G>C (n.266-319G>C) c.378G>C (p.Val126=) n.2314G>C c.667G>C c.550G>C | |
16 | g.72060344G= | CA2231555217 | HP,TXNL4B | c.675G= (p.Val225=) c.300G= (p.Val100=) c.783G= (p.Val261=) c.498G= (p.Val166=) c.285-15987C= (n.285-15987C=) c.266-319G= (n.266-319G=) c.378G= (p.Val126=) n.2314G= c.667G= c.550G= | |
16 | g.72060344G>T | CA496414874 | HP,TXNL4B | c.675G>T (p.Val225=) c.300G>T (p.Val100=) c.783G>T (p.Val261=) c.498G>T (p.Val166=) c.285-15987C>A (n.285-15987C>A) c.266-319G>T (n.266-319G>T) c.378G>T (p.Val126=) n.2314G>T c.667G>T c.550G>T | dbSNP |
16 | g.72060347del | CA2231555216 | HP,TXNL4B | c.678del (p.Lys228SerfsTer4) c.303del (p.Lys103SerfsTer4) c.786del (p.Lys264SerfsTer4) c.501del (p.Lys169SerfsTer4) c.285-15987del (n.285-15987del) c.266-316del (n.266-316del) c.381del (p.Lys129SerfsTer4) n.2317del c.670del c.553del | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060345G>A | CA8159166 | HP,TXNL4B | c.676G>A (p.Gly226Arg) c.301G>A (p.Gly101Arg) c.784G>A (p.Gly262Arg) c.499G>A (p.Gly167Arg) c.285-15988C>T (n.285-15988C>T) c.266-318G>A (n.266-318G>A) c.379G>A (p.Gly127Arg) n.2315G>A c.668G>A c.551G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060345G>C | CA396677340 | HP,TXNL4B | c.676G>C (p.Gly226Arg) c.301G>C (p.Gly101Arg) c.784G>C (p.Gly262Arg) c.499G>C (p.Gly167Arg) c.285-15988C>G (n.285-15988C>G) c.266-318G>C (n.266-318G>C) c.379G>C (p.Gly127Arg) n.2315G>C c.668G>C c.551G>C | |
16 | g.72060345G= | CA2231555218 | HP,TXNL4B | c.676G= (p.Gly226=) c.301G= (p.Gly101=) c.784G= (p.Gly262=) c.499G= (p.Gly167=) c.285-15988C= (n.285-15988C=) c.266-318G= (n.266-318G=) c.379G= (p.Gly127=) n.2315G= c.668G= c.551G= | |
16 | g.72060345G>T | CA396677343 | HP,TXNL4B | c.676G>T (p.Gly226Trp) c.301G>T (p.Gly101Trp) c.784G>T (p.Gly262Trp) c.499G>T (p.Gly167Trp) c.285-15988C>A (n.285-15988C>A) c.266-318G>T (n.266-318G>T) c.379G>T (p.Gly127Trp) n.2315G>T c.668G>T c.551G>T | |
16 | g.72060346G>A | CA396677346 | HP,TXNL4B | c.677G>A (p.Gly226Glu) c.302G>A (p.Gly101Glu) c.785G>A (p.Gly262Glu) c.500G>A (p.Gly167Glu) c.285-15989C>T (n.285-15989C>T) c.266-317G>A (n.266-317G>A) c.380G>A (p.Gly127Glu) n.2316G>A c.669G>A c.552G>A | COSMIC |
16 | g.72060346G>C | CA396677344 | HP,TXNL4B | c.677G>C (p.Gly226Ala) c.302G>C (p.Gly101Ala) c.785G>C (p.Gly262Ala) c.500G>C (p.Gly167Ala) c.285-15989C>G (n.285-15989C>G) c.266-317G>C (n.266-317G>C) c.380G>C (p.Gly127Ala) n.2316G>C c.669G>C c.552G>C | dbSNP gnomAD v4 |
16 | g.72060346G= | CA2231555219 | HP,TXNL4B | c.677G= (p.Gly226=) c.302G= (p.Gly101=) c.785G= (p.Gly262=) c.500G= (p.Gly167=) c.285-15989C= (n.285-15989C=) c.266-317G= (n.266-317G=) c.380G= (p.Gly127=) n.2316G= c.669G= c.552G= | |
16 | g.72060346G>T | CA396677345 | HP,TXNL4B | c.677G>T (p.Gly226Val) c.302G>T (p.Gly101Val) c.785G>T (p.Gly262Val) c.500G>T (p.Gly167Val) c.285-15989C>A (n.285-15989C>A) c.266-317G>T (n.266-317G>T) c.380G>T (p.Gly127Val) n.2316G>T c.669G>T c.552G>T | |
16 | g.72060347G>A | CA496414875 | HP,TXNL4B | c.678G>A (p.Gly226=) c.303G>A (p.Gly101=) c.786G>A (p.Gly262=) c.501G>A (p.Gly167=) c.285-15990C>T (n.285-15990C>T) c.266-316G>A (n.266-316G>A) c.381G>A (p.Gly127=) n.2317G>A c.670G>A c.553G>A | |
16 | g.72060347G>C | CA496414876 | HP,TXNL4B | c.678G>C (p.Gly226=) c.303G>C (p.Gly101=) c.786G>C (p.Gly262=) c.501G>C (p.Gly167=) c.285-15990C>G (n.285-15990C>G) c.266-316G>C (n.266-316G>C) c.381G>C (p.Gly127=) n.2317G>C c.670G>C c.553G>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060347G= | CA2231555221 | HP,TXNL4B | c.678G= (p.Gly226=) c.303G= (p.Gly101=) c.786G= (p.Gly262=) c.501G= (p.Gly167=) c.285-15990C= (n.285-15990C=) c.266-316G= (n.266-316G=) c.381G= (p.Gly127=) n.2317G= c.670G= c.553G= | |
16 | g.72060347G>T | CA496414877 | HP,TXNL4B | c.678G>T (p.Gly226=) c.303G>T (p.Gly101=) c.786G>T (p.Gly262=) c.501G>T (p.Gly167=) c.285-15990C>A (n.285-15990C>A) c.266-316G>T (n.266-316G>T) c.381G>T (p.Gly127=) n.2317G>T c.670G>T c.553G>T | |
16 | g.72060347_72060348delinsGA | CA2231555220 | HP,TXNL4B | c.678_679delinsGA (p.Gly226=) c.303_304delinsGA (p.Gly101=) c.786_787delinsGA (p.Gly262=) c.501_502delinsGA (p.Gly167=) c.285-15991_285-15990delinsTC (n.285-15991_285-15990delinsTC) c.266-316_266-315delinsGA (n.266-316_266-315delinsGA) c.381_382delinsGA (p.Gly127=) n.2317_2318delinsGA c.670_671delinsGA c.553_554delinsGA | |
16 | g.72060348A>C | CA396677347 | HP,TXNL4B | c.679A>C (p.Lys227Gln) c.304A>C (p.Lys102Gln) c.787A>C (p.Lys263Gln) c.502A>C (p.Lys168Gln) c.285-15991T>G (n.285-15991T>G) c.266-315A>C (n.266-315A>C) c.382A>C (p.Lys128Gln) n.2318A>C c.671A>C c.554A>C | |
16 | g.72060348A>G | CA396677349 | HP,TXNL4B | c.679A>G (p.Lys227Glu) c.304A>G (p.Lys102Glu) c.787A>G (p.Lys263Glu) c.502A>G (p.Lys168Glu) c.285-15991T>C (n.285-15991T>C) c.266-315A>G (n.266-315A>G) c.382A>G (p.Lys128Glu) n.2318A>G c.671A>G c.554A>G | gnomAD v4 |
16 | g.72060348A>T | CA396677350 | HP,TXNL4B | c.679A>T (p.Lys227Ter) c.304A>T (p.Lys102Ter) c.787A>T (p.Lys263Ter) c.502A>T (p.Lys168Ter) c.285-15991T>A (n.285-15991T>A) c.266-315A>T (n.266-315A>T) c.382A>T (p.Lys128Ter) n.2318A>T c.671A>T c.554A>T | |
16 | g.72060352del | CA623580378 | HP,TXNL4B | c.683del (p.Lys228SerfsTer4) c.308del (p.Lys103SerfsTer4) c.791del (p.Lys264SerfsTer4) c.506del (p.Lys169SerfsTer4) c.285-15991del (n.285-15991del) c.266-311del (n.266-311del) c.386del (p.Lys129SerfsTer4) n.2322del c.675del c.558del | dbSNP gnomAD v2 |
16 | g.72060349A>C | CA396677353 | HP,TXNL4B | c.680A>C (p.Lys227Thr) c.305A>C (p.Lys102Thr) c.788A>C (p.Lys263Thr) c.503A>C (p.Lys168Thr) c.285-15992T>G (n.285-15992T>G) c.266-314A>C (n.266-314A>C) c.383A>C (p.Lys128Thr) n.2319A>C c.672A>C c.555A>C | |
16 | g.72060349A>G | CA396677354 | HP,TXNL4B | c.680A>G (p.Lys227Arg) c.305A>G (p.Lys102Arg) c.788A>G (p.Lys263Arg) c.503A>G (p.Lys168Arg) c.285-15992T>C (n.285-15992T>C) c.266-314A>G (n.266-314A>G) c.383A>G (p.Lys128Arg) n.2319A>G c.672A>G c.555A>G | gnomAD v4 |
16 | g.72060349A>T | CA396677355 | HP,TXNL4B | c.680A>T (p.Lys227Ile) c.305A>T (p.Lys102Ile) c.788A>T (p.Lys263Ile) c.503A>T (p.Lys168Ile) c.285-15992T>A (n.285-15992T>A) c.266-314A>T (n.266-314A>T) c.383A>T (p.Lys128Ile) n.2319A>T c.672A>T c.555A>T | |
16 | g.72060350A>C | CA396677357 | HP,TXNL4B | c.681A>C (p.Lys227Asn) c.306A>C (p.Lys102Asn) c.789A>C (p.Lys263Asn) c.504A>C (p.Lys168Asn) c.285-15993T>G (n.285-15993T>G) c.266-313A>C (n.266-313A>C) c.384A>C (p.Lys128Asn) n.2320A>C c.673A>C c.556A>C | |
16 | g.72060350A>G | CA496414878 | HP,TXNL4B | c.681A>G (p.Lys227=) c.306A>G (p.Lys102=) c.789A>G (p.Lys263=) c.504A>G (p.Lys168=) c.285-15993T>C (n.285-15993T>C) c.266-313A>G (n.266-313A>G) c.384A>G (p.Lys128=) n.2320A>G c.673A>G c.556A>G | |
16 | g.72060350A>T | CA396677359 | HP,TXNL4B | c.681A>T (p.Lys227Asn) c.306A>T (p.Lys102Asn) c.789A>T (p.Lys263Asn) c.504A>T (p.Lys168Asn) c.285-15993T>A (n.285-15993T>A) c.266-313A>T (n.266-313A>T) c.384A>T (p.Lys128Asn) n.2320A>T c.673A>T c.556A>T | |
16 | g.72060351A>C | CA396677361 | HP,TXNL4B | c.682A>C (p.Lys228Gln) c.307A>C (p.Lys103Gln) c.790A>C (p.Lys264Gln) c.505A>C (p.Lys169Gln) c.285-15994T>G (n.285-15994T>G) c.266-312A>C (n.266-312A>C) c.385A>C (p.Lys129Gln) n.2321A>C c.674A>C c.557A>C | |
16 | g.72060351A>G | CA396677362 | HP,TXNL4B | c.682A>G (p.Lys228Glu) c.307A>G (p.Lys103Glu) c.790A>G (p.Lys264Glu) c.505A>G (p.Lys169Glu) c.285-15994T>C (n.285-15994T>C) c.266-312A>G (n.266-312A>G) c.385A>G (p.Lys129Glu) n.2321A>G c.674A>G c.557A>G | |
16 | g.72060351A>T | CA396677364 | HP,TXNL4B | c.682A>T (p.Lys228Ter) c.307A>T (p.Lys103Ter) c.790A>T (p.Lys264Ter) c.505A>T (p.Lys169Ter) c.285-15994T>A (n.285-15994T>A) c.266-312A>T (n.266-312A>T) c.385A>T (p.Lys129Ter) n.2321A>T c.674A>T c.557A>T | |
16 | g.72060352A>C | CA396677367 | HP,TXNL4B | c.683A>C (p.Lys228Thr) c.308A>C (p.Lys103Thr) c.791A>C (p.Lys264Thr) c.506A>C (p.Lys169Thr) c.285-15995T>G (n.285-15995T>G) c.266-311A>C (n.266-311A>C) c.386A>C (p.Lys129Thr) n.2322A>C c.675A>C c.558A>C | ClinVar |
16 | g.72060352A>G | CA396677369 | HP,TXNL4B | c.683A>G (p.Lys228Arg) c.308A>G (p.Lys103Arg) c.791A>G (p.Lys264Arg) c.506A>G (p.Lys169Arg) c.285-15995T>C (n.285-15995T>C) c.266-311A>G (n.266-311A>G) c.386A>G (p.Lys129Arg) n.2322A>G c.675A>G c.558A>G | |
16 | g.72060352A>T | CA396677366 | HP,TXNL4B | c.683A>T (p.Lys228Met) c.308A>T (p.Lys103Met) c.791A>T (p.Lys264Met) c.506A>T (p.Lys169Met) c.285-15995T>A (n.285-15995T>A) c.266-311A>T (n.266-311A>T) c.386A>T (p.Lys129Met) n.2322A>T c.675A>T c.558A>T | |
16 | g.72060353G>A | CA496414879 | HP,TXNL4B | c.684G>A (p.Lys228=) c.309G>A (p.Lys103=) c.792G>A (p.Lys264=) c.507G>A (p.Lys169=) c.285-15996C>T (n.285-15996C>T) c.266-310G>A (n.266-310G>A) c.387G>A (p.Lys129=) n.2323G>A c.676G>A c.559G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060353G>C | CA396677371 | HP,TXNL4B | c.684G>C (p.Lys228Asn) c.309G>C (p.Lys103Asn) c.792G>C (p.Lys264Asn) c.507G>C (p.Lys169Asn) c.285-15996C>G (n.285-15996C>G) c.266-310G>C (n.266-310G>C) c.387G>C (p.Lys129Asn) n.2323G>C c.676G>C c.559G>C | |
16 | g.72060353G= | CA2231555222 | HP,TXNL4B | c.684G= (p.Lys228=) c.309G= (p.Lys103=) c.792G= (p.Lys264=) c.507G= (p.Lys169=) c.285-15996C= (n.285-15996C=) c.266-310G= (n.266-310G=) c.387G= (p.Lys129=) n.2323G= c.676G= c.559G= | |
16 | g.72060353G>T | CA396677373 | HP,TXNL4B | c.684G>T (p.Lys228Asn) c.309G>T (p.Lys103Asn) c.792G>T (p.Lys264Asn) c.507G>T (p.Lys169Asn) c.285-15996C>A (n.285-15996C>A) c.266-310G>T (n.266-310G>T) c.387G>T (p.Lys129Asn) n.2323G>T c.676G>T c.559G>T | |
16 | g.72060354C>A | CA396677374 | HP,TXNL4B | c.685C>A (p.Gln229Lys) c.310C>A (p.Gln104Lys) c.793C>A (p.Gln265Lys) c.508C>A (p.Gln170Lys) c.285-15997G>T (n.285-15997G>T) c.266-309C>A (n.266-309C>A) c.388C>A (p.Gln130Lys) n.2324C>A c.677C>A c.560C>A | |
16 | g.72060354C= | CA2231555223 | HP,TXNL4B | c.685C= (p.Gln229=) c.310C= (p.Gln104=) c.793C= (p.Gln265=) c.508C= (p.Gln170=) c.285-15997G= (n.285-15997G=) c.266-309C= (n.266-309C=) c.388C= (p.Gln130=) n.2324C= c.677C= c.560C= | |
16 | g.72060354C>G | CA396677375 | HP,TXNL4B | c.685C>G (p.Gln229Glu) c.310C>G (p.Gln104Glu) c.793C>G (p.Gln265Glu) c.508C>G (p.Gln170Glu) c.285-15997G>C (n.285-15997G>C) c.266-309C>G (n.266-309C>G) c.388C>G (p.Gln130Glu) n.2324C>G c.677C>G c.560C>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060354C>T | CA396677376 | HP,TXNL4B | c.685C>T (p.Gln229Ter) c.310C>T (p.Gln104Ter) c.793C>T (p.Gln265Ter) c.508C>T (p.Gln170Ter) c.285-15997G>A (n.285-15997G>A) c.266-309C>T (n.266-309C>T) c.388C>T (p.Gln130Ter) n.2324C>T c.677C>T c.560C>T | |
16 | g.72060355A>C | CA396677377 | HP,TXNL4B | c.686A>C (p.Gln229Pro) c.311A>C (p.Gln104Pro) c.794A>C (p.Gln265Pro) c.509A>C (p.Gln170Pro) c.285-15998T>G (n.285-15998T>G) c.266-308A>C (n.266-308A>C) c.389A>C (p.Gln130Pro) n.2325A>C c.678A>C c.561A>C | |
16 | g.72060355A>G | CA396677378 | HP,TXNL4B | c.686A>G (p.Gln229Arg) c.311A>G (p.Gln104Arg) c.794A>G (p.Gln265Arg) c.509A>G (p.Gln170Arg) c.285-15998T>C (n.285-15998T>C) c.266-308A>G (n.266-308A>G) c.389A>G (p.Gln130Arg) n.2325A>G c.678A>G c.561A>G | |
16 | g.72060355A>T | CA396677379 | HP,TXNL4B | c.686A>T (p.Gln229Leu) c.311A>T (p.Gln104Leu) c.794A>T (p.Gln265Leu) c.509A>T (p.Gln170Leu) c.285-15998T>A (n.285-15998T>A) c.266-308A>T (n.266-308A>T) c.389A>T (p.Gln130Leu) n.2325A>T c.678A>T c.561A>T | |
16 | g.72060356G>A | CA496414880 | HP,TXNL4B | c.687G>A (p.Gln229=) c.312G>A (p.Gln104=) c.795G>A (p.Gln265=) c.510G>A (p.Gln170=) c.285-15999C>T (n.285-15999C>T) c.266-307G>A (n.266-307G>A) c.390G>A (p.Gln130=) n.2326G>A c.679G>A c.562G>A | |
16 | g.72060356G>C | CA396677381 | HP,TXNL4B | c.687G>C (p.Gln229His) c.312G>C (p.Gln104His) c.795G>C (p.Gln265His) c.510G>C (p.Gln170His) c.285-15999C>G (n.285-15999C>G) c.266-307G>C (n.266-307G>C) c.390G>C (p.Gln130His) n.2326G>C c.679G>C c.562G>C | |
16 | g.72060356G>T | CA396677383 | HP,TXNL4B | c.687G>T (p.Gln229His) c.312G>T (p.Gln104His) c.795G>T (p.Gln265His) c.510G>T (p.Gln170His) c.285-15999C>A (n.285-15999C>A) c.266-307G>T (n.266-307G>T) c.390G>T (p.Gln130His) n.2326G>T c.679G>T c.562G>T | |
16 | g.72060357C>A | CA396677385 | HP,TXNL4B | c.688C>A (p.Leu230Ile) c.313C>A (p.Leu105Ile) c.796C>A (p.Leu266Ile) c.511C>A (p.Leu171Ile) c.285-16000G>T (n.285-16000G>T) c.266-306C>A (n.266-306C>A) c.391C>A (p.Leu131Ile) n.2327C>A c.680C>A c.563C>A | |
16 | g.72060357C>G | CA396677387 | HP,TXNL4B | c.688C>G (p.Leu230Val) c.313C>G (p.Leu105Val) c.796C>G (p.Leu266Val) c.511C>G (p.Leu171Val) c.285-16000G>C (n.285-16000G>C) c.266-306C>G (n.266-306C>G) c.391C>G (p.Leu131Val) n.2327C>G c.680C>G c.563C>G | COSMIC |
16 | g.72060357C>T | CA396677389 | HP,TXNL4B | c.688C>T (p.Leu230Phe) c.313C>T (p.Leu105Phe) c.796C>T (p.Leu266Phe) c.511C>T (p.Leu171Phe) c.285-16000G>A (n.285-16000G>A) c.266-306C>T (n.266-306C>T) c.391C>T (p.Leu131Phe) n.2327C>T c.680C>T c.563C>T | gnomAD v4 |
16 | g.72060358T>A | CA396677398 | HP,TXNL4B | c.689T>A (p.Leu230His) c.314T>A (p.Leu105His) c.797T>A (p.Leu266His) c.512T>A (p.Leu171His) c.285-16001A>T (n.285-16001A>T) c.266-305T>A (n.266-305T>A) c.392T>A (p.Leu131His) n.2328T>A c.681T>A c.564T>A | |
16 | g.72060358T>C | CA396677397 | HP,TXNL4B | c.689T>C (p.Leu230Pro) c.314T>C (p.Leu105Pro) c.797T>C (p.Leu266Pro) c.512T>C (p.Leu171Pro) c.285-16001A>G (n.285-16001A>G) c.266-305T>C (n.266-305T>C) c.392T>C (p.Leu131Pro) n.2328T>C c.681T>C c.564T>C | gnomAD v4 |
16 | g.72060358T>G | CA396677392 | HP,TXNL4B | c.689T>G (p.Leu230Arg) c.314T>G (p.Leu105Arg) c.797T>G (p.Leu266Arg) c.512T>G (p.Leu171Arg) c.285-16001A>C (n.285-16001A>C) c.266-305T>G (n.266-305T>G) c.392T>G (p.Leu131Arg) n.2328T>G c.681T>G c.564T>G | |
16 | g.72060359T>A | CA8159167 | HP,TXNL4B | c.690T>A (p.Leu230=) c.315T>A (p.Leu105=) c.798T>A (p.Leu266=) c.513T>A (p.Leu171=) c.285-16002A>T (n.285-16002A>T) c.266-304T>A (n.266-304T>A) c.393T>A (p.Leu131=) n.2329T>A c.682T>A c.565T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060359T>C | CA496414881 | HP,TXNL4B | c.690T>C (p.Leu230=) c.315T>C (p.Leu105=) c.798T>C (p.Leu266=) c.513T>C (p.Leu171=) c.285-16002A>G (n.285-16002A>G) c.266-304T>C (n.266-304T>C) c.393T>C (p.Leu131=) n.2329T>C c.682T>C c.565T>C | |
16 | g.72060359T>G | CA496414882 | HP,TXNL4B | c.690T>G (p.Leu230=) c.315T>G (p.Leu105=) c.798T>G (p.Leu266=) c.513T>G (p.Leu171=) c.285-16002A>C (n.285-16002A>C) c.266-304T>G (n.266-304T>G) c.393T>G (p.Leu131=) n.2329T>G c.682T>G c.565T>G | gnomAD v4 |
16 | g.72060359T= | CA2231555224 | HP,TXNL4B | c.690T= (p.Leu230=) c.315T= (p.Leu105=) c.798T= (p.Leu266=) c.513T= (p.Leu171=) c.285-16002A= (n.285-16002A=) c.266-304T= (n.266-304T=) c.393T= (p.Leu131=) n.2329T= c.682T= c.565T= | |
16 | g.72060360G>A | CA396677401 | HP,TXNL4B | c.691G>A (p.Val231Ile) c.316G>A (p.Val106Ile) c.799G>A (p.Val267Ile) c.514G>A (p.Val172Ile) c.285-16003C>T (n.285-16003C>T) c.266-303G>A (n.266-303G>A) c.394G>A (p.Val132Ile) n.2330G>A c.683G>A c.566G>A | |
16 | g.72060360G>C | CA396677403 | HP,TXNL4B | c.691G>C (p.Val231Leu) c.316G>C (p.Val106Leu) c.799G>C (p.Val267Leu) c.514G>C (p.Val172Leu) c.285-16003C>G (n.285-16003C>G) c.266-303G>C (n.266-303G>C) c.394G>C (p.Val132Leu) n.2330G>C c.683G>C c.566G>C | |
16 | g.72060360G>T | CA396677405 | HP,TXNL4B | c.691G>T (p.Val231Leu) c.316G>T (p.Val106Leu) c.799G>T (p.Val267Leu) c.514G>T (p.Val172Leu) c.285-16003C>A (n.285-16003C>A) c.266-303G>T (n.266-303G>T) c.394G>T (p.Val132Leu) n.2330G>T c.683G>T c.566G>T | |
16 | g.72060361T>A | CA396677407 | HP,TXNL4B | c.692T>A (p.Val231Glu) c.317T>A (p.Val106Glu) c.800T>A (p.Val267Glu) c.515T>A (p.Val172Glu) c.285-16004A>T (n.285-16004A>T) c.266-302T>A (n.266-302T>A) c.395T>A (p.Val132Glu) n.2331T>A c.684T>A c.567T>A | |
16 | g.72060361T>C | CA396677408 | HP,TXNL4B | c.692T>C (p.Val231Ala) c.317T>C (p.Val106Ala) c.800T>C (p.Val267Ala) c.515T>C (p.Val172Ala) c.285-16004A>G (n.285-16004A>G) c.266-302T>C (n.266-302T>C) c.395T>C (p.Val132Ala) n.2331T>C c.684T>C c.567T>C | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060361T>G | CA396677409 | HP,TXNL4B | c.692T>G (p.Val231Gly) c.317T>G (p.Val106Gly) c.800T>G (p.Val267Gly) c.515T>G (p.Val172Gly) c.285-16004A>C (n.285-16004A>C) c.266-302T>G (n.266-302T>G) c.395T>G (p.Val132Gly) n.2331T>G c.684T>G c.567T>G | |
16 | g.72060361T= | CA2231555225 | HP,TXNL4B | c.692T= (p.Val231=) c.317T= (p.Val106=) c.800T= (p.Val267=) c.515T= (p.Val172=) c.285-16004A= (n.285-16004A=) c.266-302T= (n.266-302T=) c.395T= (p.Val132=) n.2331T= c.684T= c.567T= | |
16 | g.72060362A= | CA2231555226 | HP,TXNL4B | c.693A= (p.Val231=) c.318A= (p.Val106=) c.801A= (p.Val267=) c.516A= (p.Val172=) c.285-16005T= (n.285-16005T=) c.266-301A= (n.266-301A=) c.396A= (p.Val132=) n.2332A= c.685A= c.568A= | |
16 | g.72060362A>C | CA496414885 | HP,TXNL4B | c.693A>C (p.Val231=) c.318A>C (p.Val106=) c.801A>C (p.Val267=) c.516A>C (p.Val172=) c.285-16005T>G (n.285-16005T>G) c.266-301A>C (n.266-301A>C) c.396A>C (p.Val132=) n.2332A>C c.685A>C c.568A>C | |
16 | g.72060362A>G | CA496414884 | HP,TXNL4B | c.693A>G (p.Val231=) c.318A>G (p.Val106=) c.801A>G (p.Val267=) c.516A>G (p.Val172=) c.285-16005T>C (n.285-16005T>C) c.266-301A>G (n.266-301A>G) c.396A>G (p.Val132=) n.2332A>G c.685A>G c.568A>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060362A>T | CA496414883 | HP,TXNL4B | c.693A>T (p.Val231=) c.318A>T (p.Val106=) c.801A>T (p.Val267=) c.516A>T (p.Val172=) c.285-16005T>A (n.285-16005T>A) c.266-301A>T (n.266-301A>T) c.396A>T (p.Val132=) n.2332A>T c.685A>T c.568A>T | |
16 | g.72060363G>A | CA396677414 | HP,TXNL4B | c.694G>A (p.Glu232Lys) c.319G>A (p.Glu107Lys) c.802G>A (p.Glu268Lys) c.517G>A (p.Glu173Lys) c.285-16006C>T (n.285-16006C>T) c.266-300G>A (n.266-300G>A) c.397G>A (p.Glu133Lys) n.2333G>A c.686G>A c.569G>A | |
16 | g.72060363G>C | CA396677415 | HP,TXNL4B | c.694G>C (p.Glu232Gln) c.319G>C (p.Glu107Gln) c.802G>C (p.Glu268Gln) c.517G>C (p.Glu173Gln) c.285-16006C>G (n.285-16006C>G) c.266-300G>C (n.266-300G>C) c.397G>C (p.Glu133Gln) n.2333G>C c.686G>C c.569G>C | gnomAD v4 |
16 | g.72060363G>T | CA396677416 | HP,TXNL4B | c.694G>T (p.Glu232Ter) c.319G>T (p.Glu107Ter) c.802G>T (p.Glu268Ter) c.517G>T (p.Glu173Ter) c.285-16006C>A (n.285-16006C>A) c.266-300G>T (n.266-300G>T) c.397G>T (p.Glu133Ter) n.2333G>T c.686G>T c.569G>T | |
16 | g.72060364A>C | CA396677417 | HP,TXNL4B | c.695A>C (p.Glu232Ala) c.320A>C (p.Glu107Ala) c.803A>C (p.Glu268Ala) c.518A>C (p.Glu173Ala) c.285-16007T>G (n.285-16007T>G) c.266-299A>C (n.266-299A>C) c.398A>C (p.Glu133Ala) n.2334A>C c.687A>C c.570A>C | |
16 | g.72060364A>G | CA396677418 | HP,TXNL4B | c.695A>G (p.Glu232Gly) c.320A>G (p.Glu107Gly) c.803A>G (p.Glu268Gly) c.518A>G (p.Glu173Gly) c.285-16007T>C (n.285-16007T>C) c.266-299A>G (n.266-299A>G) c.398A>G (p.Glu133Gly) n.2334A>G c.687A>G c.570A>G | |
16 | g.72060364A>T | CA396677420 | HP,TXNL4B | c.695A>T (p.Glu232Val) c.320A>T (p.Glu107Val) c.803A>T (p.Glu268Val) c.518A>T (p.Glu173Val) c.285-16007T>A (n.285-16007T>A) c.266-299A>T (n.266-299A>T) c.398A>T (p.Glu133Val) n.2334A>T c.687A>T c.570A>T | |
16 | g.72060365G>A | CA496414886 | HP,TXNL4B | c.696G>A (p.Glu232=) c.321G>A (p.Glu107=) c.804G>A (p.Glu268=) c.519G>A (p.Glu173=) c.285-16008C>T (n.285-16008C>T) c.266-298G>A (n.266-298G>A) c.399G>A (p.Glu133=) n.2335G>A c.688G>A c.571G>A | dbSNP |
16 | g.72060365G>C | CA396677422 | HP,TXNL4B | c.696G>C (p.Glu232Asp) c.321G>C (p.Glu107Asp) c.804G>C (p.Glu268Asp) c.519G>C (p.Glu173Asp) c.285-16008C>G (n.285-16008C>G) c.266-298G>C (n.266-298G>C) c.399G>C (p.Glu133Asp) n.2335G>C c.688G>C c.571G>C | |
16 | g.72060365G= | CA2231555227 | HP,TXNL4B | c.696G= (p.Glu232=) c.321G= (p.Glu107=) c.804G= (p.Glu268=) c.519G= (p.Glu173=) c.285-16008C= (n.285-16008C=) c.266-298G= (n.266-298G=) c.399G= (p.Glu133=) n.2335G= c.688G= c.571G= | |
16 | g.72060365G>T | CA8159168 | HP,TXNL4B | c.696G>T (p.Glu232Asp) c.321G>T (p.Glu107Asp) c.804G>T (p.Glu268Asp) c.519G>T (p.Glu173Asp) c.285-16008C>A (n.285-16008C>A) c.266-298G>T (n.266-298G>T) c.399G>T (p.Glu133Asp) n.2335G>T c.688G>T c.571G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060366A>C | CA396677426 | HP,TXNL4B | c.697A>C (p.Ile233Leu) c.322A>C (p.Ile108Leu) c.805A>C (p.Ile269Leu) c.520A>C (p.Ile174Leu) c.285-16009T>G (n.285-16009T>G) c.266-297A>C (n.266-297A>C) c.400A>C (p.Ile134Leu) n.2336A>C c.689A>C c.572A>C | gnomAD v4 |
16 | g.72060366A>G | CA396677428 | HP,TXNL4B | c.697A>G (p.Ile233Val) c.322A>G (p.Ile108Val) c.805A>G (p.Ile269Val) c.520A>G (p.Ile174Val) c.285-16009T>C (n.285-16009T>C) c.266-297A>G (n.266-297A>G) c.400A>G (p.Ile134Val) n.2336A>G c.689A>G c.572A>G | |
16 | g.72060366A>T | CA396677427 | HP,TXNL4B | c.697A>T (p.Ile233Phe) c.322A>T (p.Ile108Phe) c.805A>T (p.Ile269Phe) c.520A>T (p.Ile174Phe) c.285-16009T>A (n.285-16009T>A) c.266-297A>T (n.266-297A>T) c.400A>T (p.Ile134Phe) n.2336A>T c.689A>T c.572A>T | |
16 | g.72060367T>A | CA396677431 | HP,TXNL4B | c.698T>A (p.Ile233Asn) c.323T>A (p.Ile108Asn) c.806T>A (p.Ile269Asn) c.521T>A (p.Ile174Asn) c.285-16010A>T (n.285-16010A>T) c.266-296T>A (n.266-296T>A) c.401T>A (p.Ile134Asn) n.2337T>A c.690T>A c.573T>A | |
16 | g.72060367T>C | CA396677432 | HP,TXNL4B | c.698T>C (p.Ile233Thr) c.323T>C (p.Ile108Thr) c.806T>C (p.Ile269Thr) c.521T>C (p.Ile174Thr) c.285-16010A>G (n.285-16010A>G) c.266-296T>C (n.266-296T>C) c.401T>C (p.Ile134Thr) n.2337T>C c.690T>C c.573T>C | dbSNP gnomAD v4 |
16 | g.72060367T>G | CA396677434 | HP,TXNL4B | c.698T>G (p.Ile233Ser) c.323T>G (p.Ile108Ser) c.806T>G (p.Ile269Ser) c.521T>G (p.Ile174Ser) c.285-16010A>C (n.285-16010A>C) c.266-296T>G (n.266-296T>G) c.401T>G (p.Ile134Ser) n.2337T>G c.690T>G c.573T>G | |
16 | g.72060367T= | CA2231555228 | HP,TXNL4B | c.698T= (p.Ile233=) c.323T= (p.Ile108=) c.806T= (p.Ile269=) c.521T= (p.Ile174=) c.285-16010A= (n.285-16010A=) c.266-296T= (n.266-296T=) c.401T= (p.Ile134=) n.2337T= c.690T= c.573T= | |
16 | g.72060368T>A | CA496414888 | HP,TXNL4B | c.699T>A (p.Ile233=) c.324T>A (p.Ile108=) c.807T>A (p.Ile269=) c.522T>A (p.Ile174=) c.285-16011A>T (n.285-16011A>T) c.266-295T>A (n.266-295T>A) c.402T>A (p.Ile134=) n.2338T>A c.691T>A c.574T>A | |
16 | g.72060368T>C | CA496414887 | HP,TXNL4B | c.699T>C (p.Ile233=) c.324T>C (p.Ile108=) c.807T>C (p.Ile269=) c.522T>C (p.Ile174=) c.285-16011A>G (n.285-16011A>G) c.266-295T>C (n.266-295T>C) c.402T>C (p.Ile134=) n.2338T>C c.691T>C c.574T>C | gnomAD v4 |
16 | g.72060368T>G | CA396677436 | HP,TXNL4B | c.699T>G (p.Ile233Met) c.324T>G (p.Ile108Met) c.807T>G (p.Ile269Met) c.522T>G (p.Ile174Met) c.285-16011A>C (n.285-16011A>C) c.266-295T>G (n.266-295T>G) c.402T>G (p.Ile134Met) n.2338T>G c.691T>G c.574T>G | |
16 | g.72060369G>A | CA396677437 | HP,TXNL4B | c.700G>A (p.Glu234Lys) c.325G>A (p.Glu109Lys) c.808G>A (p.Glu270Lys) c.523G>A (p.Glu175Lys) c.285-16012C>T (n.285-16012C>T) c.266-294G>A (n.266-294G>A) c.403G>A (p.Glu135Lys) n.2339G>A c.692G>A c.575G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060369G>C | CA396677439 | HP,TXNL4B | c.700G>C (p.Glu234Gln) c.325G>C (p.Glu109Gln) c.808G>C (p.Glu270Gln) c.523G>C (p.Glu175Gln) c.285-16012C>G (n.285-16012C>G) c.266-294G>C (n.266-294G>C) c.403G>C (p.Glu135Gln) n.2339G>C c.692G>C c.575G>C | gnomAD v4 |
16 | g.72060369G= | CA2231555230 | HP,TXNL4B | c.700G= (p.Glu234=) c.325G= (p.Glu109=) c.808G= (p.Glu270=) c.523G= (p.Glu175=) c.285-16012C= (n.285-16012C=) c.266-294G= (n.266-294G=) c.403G= (p.Glu135=) n.2339G= c.692G= c.575G= | |
16 | g.72060369G>T | CA396677441 | HP,TXNL4B | c.700G>T (p.Glu234Ter) c.325G>T (p.Glu109Ter) c.808G>T (p.Glu270Ter) c.523G>T (p.Glu175Ter) c.285-16012C>A (n.285-16012C>A) c.266-294G>T (n.266-294G>T) c.403G>T (p.Glu135Ter) n.2339G>T c.692G>T c.575G>T | |
16 | g.72060369_72060372delinsGAGA | CA2231555229 | HP,TXNL4B | c.700_703delinsGAGA (p.Glu234=) c.325_328delinsGAGA (p.Glu109=) c.808_811delinsGAGA (p.Glu270=) c.523_526delinsGAGA (p.Glu175=) c.285-16015_285-16012delinsTCTC (n.285-16015_285-16012delinsTCTC) c.266-294_266-291delinsGAGA (n.266-294_266-291delinsGAGA) c.403_406delinsGAGA (p.Glu135=) n.2339_2342delinsGAGA c.692_695delinsGAGA c.575_578delinsGAGA | |
16 | g.72060370A>C | CA396677444 | HP,TXNL4B | c.701A>C (p.Glu234Ala) c.326A>C (p.Glu109Ala) c.809A>C (p.Glu270Ala) c.524A>C (p.Glu175Ala) c.285-16013T>G (n.285-16013T>G) c.266-293A>C (n.266-293A>C) c.404A>C (p.Glu135Ala) n.2340A>C c.693A>C c.576A>C | |
16 | g.72060370A>G | CA396677450 | HP,TXNL4B | c.701A>G (p.Glu234Gly) c.326A>G (p.Glu109Gly) c.809A>G (p.Glu270Gly) c.524A>G (p.Glu175Gly) c.285-16013T>C (n.285-16013T>C) c.266-293A>G (n.266-293A>G) c.404A>G (p.Glu135Gly) n.2340A>G c.693A>G c.576A>G | |
16 | g.72060370A>T | CA396677447 | HP,TXNL4B | c.701A>T (p.Glu234Val) c.326A>T (p.Glu109Val) c.809A>T (p.Glu270Val) c.524A>T (p.Glu175Val) c.285-16013T>A (n.285-16013T>A) c.266-293A>T (n.266-293A>T) c.404A>T (p.Glu135Val) n.2340A>T c.693A>T c.576A>T | |
16 | g.72060372_72060374del | CA8159169 | HP,TXNL4B | c.703_705del (p.Lys235del) c.328_330del (p.Lys110del) c.811_813del (p.Lys271del) c.526_528del (p.Lys176del) c.285-16015_285-16013del (n.285-16015_285-16013del) c.266-291_266-289del (n.266-291_266-289del) c.406_408del (p.Lys136del) n.2342_2344del c.695_697del c.578_580del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060371G>A | CA496414889 | HP,TXNL4B | c.702G>A (p.Glu234=) c.327G>A (p.Glu109=) c.810G>A (p.Glu270=) c.525G>A (p.Glu175=) c.285-16014C>T (n.285-16014C>T) c.266-292G>A (n.266-292G>A) c.405G>A (p.Glu135=) n.2341G>A c.694G>A c.577G>A | gnomAD v4 COSMIC |
16 | g.72060371G>C | CA396677453 | HP,TXNL4B | c.702G>C (p.Glu234Asp) c.327G>C (p.Glu109Asp) c.810G>C (p.Glu270Asp) c.525G>C (p.Glu175Asp) c.285-16014C>G (n.285-16014C>G) c.266-292G>C (n.266-292G>C) c.405G>C (p.Glu135Asp) n.2341G>C c.694G>C c.577G>C | |
16 | g.72060371G>T | CA396677454 | HP,TXNL4B | c.702G>T (p.Glu234Asp) c.327G>T (p.Glu109Asp) c.810G>T (p.Glu270Asp) c.525G>T (p.Glu175Asp) c.285-16014C>A (n.285-16014C>A) c.266-292G>T (n.266-292G>T) c.405G>T (p.Glu135Asp) n.2341G>T c.694G>T c.577G>T | |
16 | g.72060372A>C | CA396677455 | HP,TXNL4B | c.703A>C (p.Lys235Gln) c.328A>C (p.Lys110Gln) c.811A>C (p.Lys271Gln) c.526A>C (p.Lys176Gln) c.285-16015T>G (n.285-16015T>G) c.266-291A>C (n.266-291A>C) c.406A>C (p.Lys136Gln) n.2342A>C c.695A>C c.578A>C | |
16 | g.72060372A>G | CA396677457 | HP,TXNL4B | c.703A>G (p.Lys235Glu) c.328A>G (p.Lys110Glu) c.811A>G (p.Lys271Glu) c.526A>G (p.Lys176Glu) c.285-16015T>C (n.285-16015T>C) c.266-291A>G (n.266-291A>G) c.406A>G (p.Lys136Glu) n.2342A>G c.695A>G c.578A>G | gnomAD v4 |
16 | g.72060372A>T | CA396677456 | HP,TXNL4B | c.703A>T (p.Lys235Ter) c.328A>T (p.Lys110Ter) c.811A>T (p.Lys271Ter) c.526A>T (p.Lys176Ter) c.285-16015T>A (n.285-16015T>A) c.266-291A>T (n.266-291A>T) c.406A>T (p.Lys136Ter) n.2342A>T c.695A>T c.578A>T | |
16 | g.72060373A>C | CA396677458 | HP,TXNL4B | c.704A>C (p.Lys235Thr) c.329A>C (p.Lys110Thr) c.812A>C (p.Lys271Thr) c.527A>C (p.Lys176Thr) c.285-16016T>G (n.285-16016T>G) c.266-290A>C (n.266-290A>C) c.407A>C (p.Lys136Thr) n.2343A>C c.696A>C c.579A>C | |
16 | g.72060373A>G | CA396677460 | HP,TXNL4B | c.704A>G (p.Lys235Arg) c.329A>G (p.Lys110Arg) c.812A>G (p.Lys271Arg) c.527A>G (p.Lys176Arg) c.285-16016T>C (n.285-16016T>C) c.266-290A>G (n.266-290A>G) c.407A>G (p.Lys136Arg) n.2343A>G c.696A>G c.579A>G | |
16 | g.72060373A>T | CA396677462 | HP,TXNL4B | c.704A>T (p.Lys235Met) c.329A>T (p.Lys110Met) c.812A>T (p.Lys271Met) c.527A>T (p.Lys176Met) c.285-16016T>A (n.285-16016T>A) c.266-290A>T (n.266-290A>T) c.407A>T (p.Lys136Met) n.2343A>T c.696A>T c.579A>T | |
16 | g.72060374G>A | CA496414892 | HP,TXNL4B | c.705G>A (p.Lys235=) c.330G>A (p.Lys110=) c.813G>A (p.Lys271=) c.528G>A (p.Lys176=) c.285-16017C>T (n.285-16017C>T) c.266-289G>A (n.266-289G>A) c.408G>A (p.Lys136=) n.2344G>A c.697G>A c.580G>A | |
16 | g.72060374G>C | CA396677463 | HP,TXNL4B | c.705G>C (p.Lys235Asn) c.330G>C (p.Lys110Asn) c.813G>C (p.Lys271Asn) c.528G>C (p.Lys176Asn) c.285-16017C>G (n.285-16017C>G) c.266-289G>C (n.266-289G>C) c.408G>C (p.Lys136Asn) n.2344G>C c.697G>C c.580G>C | |
16 | g.72060374G>T | CA396677465 | HP,TXNL4B | c.705G>T (p.Lys235Asn) c.330G>T (p.Lys110Asn) c.813G>T (p.Lys271Asn) c.528G>T (p.Lys176Asn) c.285-16017C>A (n.285-16017C>A) c.266-289G>T (n.266-289G>T) c.408G>T (p.Lys136Asn) n.2344G>T c.697G>T c.580G>T | gnomAD v4 |
16 | g.72060375G>A | CA396677467 | HP,TXNL4B | c.706G>A (p.Val236Ile) c.331G>A (p.Val111Ile) c.814G>A (p.Val272Ile) c.529G>A (p.Val177Ile) c.285-16018C>T (n.285-16018C>T) c.266-288G>A (n.266-288G>A) c.409G>A (p.Val137Ile) n.2345G>A c.698G>A c.581G>A | |
16 | g.72060375G>C | CA396677469 | HP,TXNL4B | c.706G>C (p.Val236Leu) c.331G>C (p.Val111Leu) c.814G>C (p.Val272Leu) c.529G>C (p.Val177Leu) c.285-16018C>G (n.285-16018C>G) c.266-288G>C (n.266-288G>C) c.409G>C (p.Val137Leu) n.2345G>C c.698G>C c.581G>C | |
16 | g.72060375G>T | CA396677470 | HP,TXNL4B | c.706G>T (p.Val236Phe) c.331G>T (p.Val111Phe) c.814G>T (p.Val272Phe) c.529G>T (p.Val177Phe) c.285-16018C>A (n.285-16018C>A) c.266-288G>T (n.266-288G>T) c.409G>T (p.Val137Phe) n.2345G>T c.698G>T c.581G>T | |
16 | g.72060376T>A | CA396677472 | HP,TXNL4B | c.707T>A (p.Val236Asp) c.332T>A (p.Val111Asp) c.815T>A (p.Val272Asp) c.530T>A (p.Val177Asp) c.285-16019A>T (n.285-16019A>T) c.266-287T>A (n.266-287T>A) c.410T>A (p.Val137Asp) n.2346T>A c.699T>A c.582T>A | |
16 | g.72060376T>C | CA8159170 | HP,TXNL4B | c.707T>C (p.Val236Ala) c.332T>C (p.Val111Ala) c.815T>C (p.Val272Ala) c.530T>C (p.Val177Ala) c.285-16019A>G (n.285-16019A>G) c.266-287T>C (n.266-287T>C) c.410T>C (p.Val137Ala) n.2346T>C c.699T>C c.582T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060376T>G | CA396677475 | HP,TXNL4B | c.707T>G (p.Val236Gly) c.332T>G (p.Val111Gly) c.815T>G (p.Val272Gly) c.530T>G (p.Val177Gly) c.285-16019A>C (n.285-16019A>C) c.266-287T>G (n.266-287T>G) c.410T>G (p.Val137Gly) n.2346T>G c.699T>G c.582T>G | |
16 | g.72060376T= | CA2231555231 | HP,TXNL4B | c.707T= (p.Val236=) c.332T= (p.Val111=) c.815T= (p.Val272=) c.530T= (p.Val177=) c.285-16019A= (n.285-16019A=) c.266-287T= (n.266-287T=) c.410T= (p.Val137=) n.2346T= c.699T= c.582T= | |
16 | g.72060377T>A | CA8159172 | HP,TXNL4B | c.708T>A (p.Val236=) c.333T>A (p.Val111=) c.816T>A (p.Val272=) c.531T>A (p.Val177=) c.285-16020A>T (n.285-16020A>T) c.266-286T>A (n.266-286T>A) c.411T>A (p.Val137=) n.2347T>A c.700T>A c.583T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060377T>C | CA496414894 | HP,TXNL4B | c.708T>C (p.Val236=) c.333T>C (p.Val111=) c.816T>C (p.Val272=) c.531T>C (p.Val177=) c.285-16020A>G (n.285-16020A>G) c.266-286T>C (n.266-286T>C) c.411T>C (p.Val137=) n.2347T>C c.700T>C c.583T>C | dbSNP gnomAD v4 |
16 | g.72060377T>G | CA8159171 | HP,TXNL4B | c.708T>G (p.Val236=) c.333T>G (p.Val111=) c.816T>G (p.Val272=) c.531T>G (p.Val177=) c.285-16020A>C (n.285-16020A>C) c.266-286T>G (n.266-286T>G) c.411T>G (p.Val137=) n.2347T>G c.700T>G c.583T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060377T= | CA2231555232 | HP,TXNL4B | c.708T= (p.Val236=) c.333T= (p.Val111=) c.816T= (p.Val272=) c.531T= (p.Val177=) c.285-16020A= (n.285-16020A=) c.266-286T= (n.266-286T=) c.411T= (p.Val137=) n.2347T= c.700T= c.583T= | |
16 | g.72060378G>A | CA396677478 | HP,TXNL4B | c.709G>A (p.Val237Ile) c.334G>A (p.Val112Ile) c.817G>A (p.Val273Ile) c.532G>A (p.Val178Ile) c.285-16021C>T (n.285-16021C>T) c.266-285G>A (n.266-285G>A) c.412G>A (p.Val138Ile) n.2348G>A c.701G>A c.584G>A | gnomAD v4 |
16 | g.72060378G>C | CA396677481 | HP,TXNL4B | c.709G>C (p.Val237Leu) c.334G>C (p.Val112Leu) c.817G>C (p.Val273Leu) c.532G>C (p.Val178Leu) c.285-16021C>G (n.285-16021C>G) c.266-285G>C (n.266-285G>C) c.412G>C (p.Val138Leu) n.2348G>C c.701G>C c.584G>C | gnomAD v4 |
16 | g.72060378G>T | CA396677479 | HP,TXNL4B | c.709G>T (p.Val237Phe) c.334G>T (p.Val112Phe) c.817G>T (p.Val273Phe) c.532G>T (p.Val178Phe) c.285-16021C>A (n.285-16021C>A) c.266-285G>T (n.266-285G>T) c.412G>T (p.Val138Phe) n.2348G>T c.701G>T c.584G>T | |
16 | g.72060379T>A | CA396677482 | HP,TXNL4B | c.710T>A (p.Val237Asp) c.335T>A (p.Val112Asp) c.818T>A (p.Val273Asp) c.533T>A (p.Val178Asp) c.285-16022A>T (n.285-16022A>T) c.266-284T>A (n.266-284T>A) c.413T>A (p.Val138Asp) n.2349T>A c.702T>A c.585T>A | |
16 | g.72060379T>C | CA396677484 | HP,TXNL4B | c.710T>C (p.Val237Ala) c.335T>C (p.Val112Ala) c.818T>C (p.Val273Ala) c.533T>C (p.Val178Ala) c.285-16022A>G (n.285-16022A>G) c.266-284T>C (n.266-284T>C) c.413T>C (p.Val138Ala) n.2349T>C c.702T>C c.585T>C | |
16 | g.72060379T>G | CA396677486 | HP,TXNL4B | c.710T>G (p.Val237Gly) c.335T>G (p.Val112Gly) c.818T>G (p.Val273Gly) c.533T>G (p.Val178Gly) c.285-16022A>C (n.285-16022A>C) c.266-284T>G (n.266-284T>G) c.413T>G (p.Val138Gly) n.2349T>G c.702T>G c.585T>G | |
16 | g.72060380T>A | CA496414900 | HP,TXNL4B | c.711T>A (p.Val237=) c.336T>A (p.Val112=) c.819T>A (p.Val273=) c.534T>A (p.Val178=) c.285-16023A>T (n.285-16023A>T) c.266-283T>A (n.266-283T>A) c.414T>A (p.Val138=) n.2350T>A c.703T>A c.586T>A | |
16 | g.72060380T>C | CA496414901 | HP,TXNL4B | c.711T>C (p.Val237=) c.336T>C (p.Val112=) c.819T>C (p.Val273=) c.534T>C (p.Val178=) c.285-16023A>G (n.285-16023A>G) c.266-283T>C (n.266-283T>C) c.414T>C (p.Val138=) n.2350T>C c.703T>C c.586T>C | |
16 | g.72060380T>G | CA496414902 | HP,TXNL4B | c.711T>G (p.Val237=) c.336T>G (p.Val112=) c.819T>G (p.Val273=) c.534T>G (p.Val178=) c.285-16023A>C (n.285-16023A>C) c.266-283T>G (n.266-283T>G) c.414T>G (p.Val138=) n.2350T>G c.703T>G c.586T>G | dbSNP gnomAD v3 gnomAD v4 |
16 | g.72060380T= | CA2231555233 | HP,TXNL4B | c.711T= (p.Val237=) c.336T= (p.Val112=) c.819T= (p.Val273=) c.534T= (p.Val178=) c.285-16023A= (n.285-16023A=) c.266-283T= (n.266-283T=) c.414T= (p.Val138=) n.2350T= c.703T= c.586T= | |
16 | g.72060381C>A | CA396677487 | HP,TXNL4B | c.712C>A (p.Leu238Ile) c.337C>A (p.Leu113Ile) c.820C>A (p.Leu274Ile) c.535C>A (p.Leu179Ile) c.285-16024G>T (n.285-16024G>T) c.266-282C>A (n.266-282C>A) c.415C>A (p.Leu139Ile) n.2351C>A c.704C>A c.587C>A | |
16 | g.72060381C>G | CA396677489 | HP,TXNL4B | c.712C>G (p.Leu238Val) c.337C>G (p.Leu113Val) c.820C>G (p.Leu274Val) c.535C>G (p.Leu179Val) c.285-16024G>C (n.285-16024G>C) c.266-282C>G (n.266-282C>G) c.415C>G (p.Leu139Val) n.2351C>G c.704C>G c.587C>G | |
16 | g.72060381C>T | CA496414904 | HP,TXNL4B | c.712C>T (p.Leu238=) c.337C>T (p.Leu113=) c.820C>T (p.Leu274=) c.535C>T (p.Leu179=) c.285-16024G>A (n.285-16024G>A) c.266-282C>T (n.266-282C>T) c.415C>T (p.Leu139=) n.2351C>T c.704C>T c.587C>T | gnomAD v4 |
16 | g.72060382T>A | CA396677491 | HP,TXNL4B | c.713T>A (p.Leu238Gln) c.338T>A (p.Leu113Gln) c.821T>A (p.Leu274Gln) c.536T>A (p.Leu179Gln) c.285-16025A>T (n.285-16025A>T) c.266-281T>A (n.266-281T>A) c.416T>A (p.Leu139Gln) n.2352T>A c.705T>A c.588T>A | |
16 | g.72060382T>C | CA396677493 | HP,TXNL4B | c.713T>C (p.Leu238Pro) c.338T>C (p.Leu113Pro) c.821T>C (p.Leu274Pro) c.536T>C (p.Leu179Pro) c.285-16025A>G (n.285-16025A>G) c.266-281T>C (n.266-281T>C) c.416T>C (p.Leu139Pro) n.2352T>C c.705T>C c.588T>C | |
16 | g.72060382T>G | CA396677494 | HP,TXNL4B | c.713T>G (p.Leu238Arg) c.338T>G (p.Leu113Arg) c.821T>G (p.Leu274Arg) c.536T>G (p.Leu179Arg) c.285-16025A>C (n.285-16025A>C) c.266-281T>G (n.266-281T>G) c.416T>G (p.Leu139Arg) n.2352T>G c.705T>G c.588T>G | |
16 | g.72060383A>C | CA496414905 | HP,TXNL4B | c.714A>C (p.Leu238=) c.339A>C (p.Leu113=) c.822A>C (p.Leu274=) c.537A>C (p.Leu179=) c.285-16026T>G (n.285-16026T>G) c.266-280A>C (n.266-280A>C) c.417A>C (p.Leu139=) n.2353A>C c.706A>C c.589A>C | |
16 | g.72060383A>G | CA496414908 | HP,TXNL4B | c.714A>G (p.Leu238=) c.339A>G (p.Leu113=) c.822A>G (p.Leu274=) c.537A>G (p.Leu179=) c.285-16026T>C (n.285-16026T>C) c.266-280A>G (n.266-280A>G) c.417A>G (p.Leu139=) n.2353A>G c.706A>G c.589A>G | gnomAD v4 |
16 | g.72060383A>T | CA496414907 | HP,TXNL4B | c.714A>T (p.Leu238=) c.339A>T (p.Leu113=) c.822A>T (p.Leu274=) c.537A>T (p.Leu179=) c.285-16026T>A (n.285-16026T>A) c.266-280A>T (n.266-280A>T) c.417A>T (p.Leu139=) n.2353A>T c.706A>T c.589A>T | |
16 | g.72060384C>A | CA396677496 | HP,TXNL4B | c.715C>A (p.His239Asn) c.340C>A (p.His114Asn) c.823C>A (p.His275Asn) c.538C>A (p.His180Asn) c.285-16027G>T (n.285-16027G>T) c.266-279C>A (n.266-279C>A) c.418C>A (p.His140Asn) n.2354C>A c.707C>A c.590C>A | COSMIC |
16 | g.72060384C= | CA2231555234 | HP,TXNL4B | c.715C= (p.His239=) c.340C= (p.His114=) c.823C= (p.His275=) c.538C= (p.His180=) c.285-16027G= (n.285-16027G=) c.266-279C= (n.266-279C=) c.418C= (p.His140=) n.2354C= c.707C= c.590C= | |
16 | g.72060384C>G | CA396677497 | HP,TXNL4B | c.715C>G (p.His239Asp) c.340C>G (p.His114Asp) c.823C>G (p.His275Asp) c.538C>G (p.His180Asp) c.285-16027G>C (n.285-16027G>C) c.266-279C>G (n.266-279C>G) c.418C>G (p.His140Asp) n.2354C>G c.707C>G c.590C>G | |
16 | g.72060384C>T | CA396677499 | HP,TXNL4B | c.715C>T (p.His239Tyr) c.340C>T (p.His114Tyr) c.823C>T (p.His275Tyr) c.538C>T (p.His180Tyr) c.285-16027G>A (n.285-16027G>A) c.266-279C>T (n.266-279C>T) c.418C>T (p.His140Tyr) n.2354C>T c.707C>T c.590C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.72060385A>C | CA396677502 | HP,TXNL4B | c.716A>C (p.His239Pro) c.341A>C (p.His114Pro) c.824A>C (p.His275Pro) c.539A>C (p.His180Pro) c.285-16028T>G (n.285-16028T>G) c.266-278A>C (n.266-278A>C) c.419A>C (p.His140Pro) n.2355A>C c.708A>C c.591A>C | |
16 | g.72060385A>G | CA396677501 | HP,TXNL4B | c.716A>G (p.His239Arg) c.341A>G (p.His114Arg) c.824A>G (p.His275Arg) c.539A>G (p.His180Arg) c.285-16028T>C (n.285-16028T>C) c.266-278A>G (n.266-278A>G) c.419A>G (p.His140Arg) n.2355A>G c.708A>G c.591A>G | |
16 | g.72060385A>T | CA396677500 | HP,TXNL4B | c.716A>T (p.His239Leu) c.341A>T (p.His114Leu) c.824A>T (p.His275Leu) c.539A>T (p.His180Leu) c.285-16028T>A (n.285-16028T>A) c.266-278A>T (n.266-278A>T) c.419A>T (p.His140Leu) n.2355A>T c.708A>T c.591A>T | |
16 | g.72060386C>A | CA396677505 | HP,TXNL4B | c.717C>A (p.His239Gln) c.342C>A (p.His114Gln) c.825C>A (p.His275Gln) c.540C>A (p.His180Gln) c.285-16029G>T (n.285-16029G>T) c.266-277C>A (n.266-277C>A) c.420C>A (p.His140Gln) n.2356C>A c.709C>A c.592C>A | |
16 | g.72060386C= | CA2231555235 | HP,TXNL4B | c.717C= (p.His239=) c.342C= (p.His114=) c.825C= (p.His275=) c.540C= (p.His180=) c.285-16029G= (n.285-16029G=) c.266-277C= (n.266-277C=) c.420C= (p.His140=) n.2356C= c.709C= c.592C= | |
16 | g.72060386C>G | CA8159174 | HP,TXNL4B | c.717C>G (p.His239Gln) c.342C>G (p.His114Gln) c.825C>G (p.His275Gln) c.540C>G (p.His180Gln) c.285-16029G>C (n.285-16029G>C) c.266-277C>G (n.266-277C>G) c.420C>G (p.His140Gln) n.2356C>G c.709C>G c.592C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060386C>T | CA8159173 | HP,TXNL4B | c.717C>T (p.His239=) c.342C>T (p.His114=) c.825C>T (p.His275=) c.540C>T (p.His180=) c.285-16029G>A (n.285-16029G>A) c.266-277C>T (n.266-277C>T) c.420C>T (p.His140=) n.2356C>T c.709C>T c.592C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060387C>A | CA8159175 | HP,TXNL4B | c.718C>A (p.Pro240Thr) c.343C>A (p.Pro115Thr) c.826C>A (p.Pro276Thr) c.541C>A (p.Pro181Thr) c.285-16030G>T (n.285-16030G>T) c.266-276C>A (n.266-276C>A) c.421C>A (p.Pro141Thr) n.2357C>A c.710C>A c.593C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060387C= | CA2231555236 | HP,TXNL4B | c.718C= (p.Pro240=) c.343C= (p.Pro115=) c.826C= (p.Pro276=) c.541C= (p.Pro181=) c.285-16030G= (n.285-16030G=) c.266-276C= (n.266-276C=) c.421C= (p.Pro141=) n.2357C= c.710C= c.593C= | |
16 | g.72060387C>G | CA396677508 | HP,TXNL4B | c.718C>G (p.Pro240Ala) c.343C>G (p.Pro115Ala) c.826C>G (p.Pro276Ala) c.541C>G (p.Pro181Ala) c.285-16030G>C (n.285-16030G>C) c.266-276C>G (n.266-276C>G) c.421C>G (p.Pro141Ala) n.2357C>G c.710C>G c.593C>G | |
16 | g.72060387C>T | CA396677510 | HP,TXNL4B | c.718C>T (p.Pro240Ser) c.343C>T (p.Pro115Ser) c.826C>T (p.Pro276Ser) c.541C>T (p.Pro181Ser) c.285-16030G>A (n.285-16030G>A) c.266-276C>T (n.266-276C>T) c.421C>T (p.Pro141Ser) n.2357C>T c.710C>T c.593C>T | gnomAD v4 |
16 | g.72060388C>A | CA396677512 | HP,TXNL4B | c.719C>A (p.Pro240His) c.344C>A (p.Pro115His) c.827C>A (p.Pro276His) c.542C>A (p.Pro181His) c.285-16031G>T (n.285-16031G>T) c.266-275C>A (n.266-275C>A) c.422C>A (p.Pro141His) n.2358C>A c.711C>A c.594C>A | COSMIC |
16 | g.72060388C>G | CA396677513 | HP,TXNL4B | c.719C>G (p.Pro240Arg) c.344C>G (p.Pro115Arg) c.827C>G (p.Pro276Arg) c.542C>G (p.Pro181Arg) c.285-16031G>C (n.285-16031G>C) c.266-275C>G (n.266-275C>G) c.422C>G (p.Pro141Arg) n.2358C>G c.711C>G c.594C>G | |
16 | g.72060388C>T | CA396677515 | HP,TXNL4B | c.719C>T (p.Pro240Leu) c.344C>T (p.Pro115Leu) c.827C>T (p.Pro276Leu) c.542C>T (p.Pro181Leu) c.285-16031G>A (n.285-16031G>A) c.266-275C>T (n.266-275C>T) c.422C>T (p.Pro141Leu) n.2358C>T c.711C>T c.594C>T | |
16 | g.72060389T>A | CA496414913 | HP,TXNL4B | c.720T>A (p.Pro240=) c.345T>A (p.Pro115=) c.828T>A (p.Pro276=) c.543T>A (p.Pro181=) c.285-16032A>T (n.285-16032A>T) c.266-274T>A (n.266-274T>A) c.423T>A (p.Pro141=) n.2359T>A c.712T>A c.595T>A | |
16 | g.72060389T>C | CA496414914 | HP,TXNL4B | c.720T>C (p.Pro240=) c.345T>C (p.Pro115=) c.828T>C (p.Pro276=) c.543T>C (p.Pro181=) c.285-16032A>G (n.285-16032A>G) c.266-274T>C (n.266-274T>C) c.423T>C (p.Pro141=) n.2359T>C c.712T>C c.595T>C | |
16 | g.72060389T>G | CA496414915 | HP,TXNL4B | c.720T>G (p.Pro240=) c.345T>G (p.Pro115=) c.828T>G (p.Pro276=) c.543T>G (p.Pro181=) c.285-16032A>C (n.285-16032A>C) c.266-274T>G (n.266-274T>G) c.423T>G (p.Pro141=) n.2359T>G c.712T>G c.595T>G | |
16 | g.72060390A= | CA2231555237 | HP,TXNL4B | c.721A= (p.Asn241=) c.346A= (p.Asn116=) c.829A= (p.Asn277=) c.544A= (p.Asn182=) c.285-16033T= (n.285-16033T=) c.266-273A= (n.266-273A=) c.424A= (p.Asn142=) n.2360A= c.713A= c.596A= | |
16 | g.72060390A>C | CA396677517 | HP,TXNL4B | c.721A>C (p.Asn241His) c.346A>C (p.Asn116His) c.829A>C (p.Asn277His) c.544A>C (p.Asn182His) c.285-16033T>G (n.285-16033T>G) c.266-273A>C (n.266-273A>C) c.424A>C (p.Asn142His) n.2360A>C c.713A>C c.596A>C | |
16 | g.72060390A>G | CA396677519 | HP,TXNL4B | c.721A>G (p.Asn241Asp) c.346A>G (p.Asn116Asp) c.829A>G (p.Asn277Asp) c.544A>G (p.Asn182Asp) c.285-16033T>C (n.285-16033T>C) c.266-273A>G (n.266-273A>G) c.424A>G (p.Asn142Asp) n.2360A>G c.713A>G c.596A>G | dbSNP gnomAD v4 |
16 | g.72060390A>T | CA396677520 | HP,TXNL4B | c.721A>T (p.Asn241Tyr) c.346A>T (p.Asn116Tyr) c.829A>T (p.Asn277Tyr) c.544A>T (p.Asn182Tyr) c.285-16033T>A (n.285-16033T>A) c.266-273A>T (n.266-273A>T) c.424A>T (p.Asn142Tyr) n.2360A>T c.713A>T c.596A>T | |
16 | g.72060391A= | CA2231555238 | HP,TXNL4B | c.722A= (p.Asn241=) c.347A= (p.Asn116=) c.830A= (p.Asn277=) c.545A= (p.Asn182=) c.285-16034T= (n.285-16034T=) c.266-272A= (n.266-272A=) c.425A= (p.Asn142=) n.2361A= c.714A= c.597A= | |
16 | g.72060391A>C | CA396677525 | HP,TXNL4B | c.722A>C (p.Asn241Thr) c.347A>C (p.Asn116Thr) c.830A>C (p.Asn277Thr) c.545A>C (p.Asn182Thr) c.285-16034T>G (n.285-16034T>G) c.266-272A>C (n.266-272A>C) c.425A>C (p.Asn142Thr) n.2361A>C c.714A>C c.597A>C | gnomAD v4 |
16 | g.72060391A>G | CA396677521 | HP,TXNL4B | c.722A>G (p.Asn241Ser) c.347A>G (p.Asn116Ser) c.830A>G (p.Asn277Ser) c.545A>G (p.Asn182Ser) c.285-16034T>C (n.285-16034T>C) c.266-272A>G (n.266-272A>G) c.425A>G (p.Asn142Ser) n.2361A>G c.714A>G c.597A>G | gnomAD v4 |
16 | g.72060391A>T | CA396677523 | HP,TXNL4B | c.722A>T (p.Asn241Ile) c.347A>T (p.Asn116Ile) c.830A>T (p.Asn277Ile) c.545A>T (p.Asn182Ile) c.285-16034T>A (n.285-16034T>A) c.266-272A>T (n.266-272A>T) c.425A>T (p.Asn142Ile) n.2361A>T c.714A>T c.597A>T | dbSNP gnomAD v4 |
16 | g.72060392C>A | CA396677527 | HP,TXNL4B | c.723C>A (p.Asn241Lys) c.348C>A (p.Asn116Lys) c.831C>A (p.Asn277Lys) c.546C>A (p.Asn182Lys) c.285-16035G>T (n.285-16035G>T) c.266-271C>A (n.266-271C>A) c.426C>A (p.Asn142Lys) n.2362C>A c.715C>A c.598C>A | |
16 | g.72060392C>G | CA396677528 | HP,TXNL4B | c.723C>G (p.Asn241Lys) c.348C>G (p.Asn116Lys) c.831C>G (p.Asn277Lys) c.546C>G (p.Asn182Lys) c.285-16035G>C (n.285-16035G>C) c.266-271C>G (n.266-271C>G) c.426C>G (p.Asn142Lys) n.2362C>G c.715C>G c.598C>G | gnomAD v4 |
16 | g.72060392C>T | CA496414923 | HP,TXNL4B | c.723C>T (p.Asn241=) c.348C>T (p.Asn116=) c.831C>T (p.Asn277=) c.546C>T (p.Asn182=) c.285-16035G>A (n.285-16035G>A) c.266-271C>T (n.266-271C>T) c.426C>T (p.Asn142=) n.2362C>T c.715C>T c.598C>T | gnomAD v4 |
16 | g.72060393T>A | CA396677529 | HP,TXNL4B | c.724T>A (p.Tyr242Asn) c.349T>A (p.Tyr117Asn) c.832T>A (p.Tyr278Asn) c.547T>A (p.Tyr183Asn) c.285-16036A>T (n.285-16036A>T) c.266-270T>A (n.266-270T>A) c.427T>A (p.Tyr143Asn) n.2363T>A c.716T>A c.599T>A | |
16 | g.72060393T>C | CA396677531 | HP,TXNL4B | c.724T>C (p.Tyr242His) c.349T>C (p.Tyr117His) c.832T>C (p.Tyr278His) c.547T>C (p.Tyr183His) c.285-16036A>G (n.285-16036A>G) c.266-270T>C (n.266-270T>C) c.427T>C (p.Tyr143His) n.2363T>C c.716T>C c.599T>C | |
16 | g.72060393T>G | CA396677532 | HP,TXNL4B | c.724T>G (p.Tyr242Asp) c.349T>G (p.Tyr117Asp) c.832T>G (p.Tyr278Asp) c.547T>G (p.Tyr183Asp) c.285-16036A>C (n.285-16036A>C) c.266-270T>G (n.266-270T>G) c.427T>G (p.Tyr143Asp) n.2363T>G c.716T>G c.599T>G | |
16 | g.72060394A>C | CA396677534 | HP,TXNL4B | c.725A>C (p.Tyr242Ser) c.350A>C (p.Tyr117Ser) c.833A>C (p.Tyr278Ser) c.548A>C (p.Tyr183Ser) c.285-16037T>G (n.285-16037T>G) c.266-269A>C (n.266-269A>C) c.428A>C (p.Tyr143Ser) n.2364A>C c.717A>C c.600A>C | |
16 | g.72060394A>G | CA396677536 | HP,TXNL4B | c.725A>G (p.Tyr242Cys) c.350A>G (p.Tyr117Cys) c.833A>G (p.Tyr278Cys) c.548A>G (p.Tyr183Cys) c.285-16037T>C (n.285-16037T>C) c.266-269A>G (n.266-269A>G) c.428A>G (p.Tyr143Cys) n.2364A>G c.717A>G c.600A>G | |
16 | g.72060394A>T | CA396677537 | HP,TXNL4B | c.725A>T (p.Tyr242Phe) c.350A>T (p.Tyr117Phe) c.833A>T (p.Tyr278Phe) c.548A>T (p.Tyr183Phe) c.285-16037T>A (n.285-16037T>A) c.266-269A>T (n.266-269A>T) c.428A>T (p.Tyr143Phe) n.2364A>T c.717A>T c.600A>T | gnomAD v4 |
16 | g.72060395C>A | CA396677540 | HP,TXNL4B | c.726C>A (p.Tyr242Ter) c.351C>A (p.Tyr117Ter) c.834C>A (p.Tyr278Ter) c.549C>A (p.Tyr183Ter) c.285-16038G>T (n.285-16038G>T) c.266-268C>A (n.266-268C>A) c.429C>A (p.Tyr143Ter) n.2365C>A c.718C>A c.601C>A | |
16 | g.72060395C= | CA2231555239 | HP,TXNL4B | c.726C= (p.Tyr242=) c.351C= (p.Tyr117=) c.834C= (p.Tyr278=) c.549C= (p.Tyr183=) c.285-16038G= (n.285-16038G=) c.266-268C= (n.266-268C=) c.429C= (p.Tyr143=) n.2365C= c.718C= c.601C= | |
16 | g.72060395C>G | CA396677539 | HP,TXNL4B | c.726C>G (p.Tyr242Ter) c.351C>G (p.Tyr117Ter) c.834C>G (p.Tyr278Ter) c.549C>G (p.Tyr183Ter) c.285-16038G>C (n.285-16038G>C) c.266-268C>G (n.266-268C>G) c.429C>G (p.Tyr143Ter) n.2365C>G c.718C>G c.601C>G | dbSNP gnomAD v2 gnomAD v4 |
16 | g.72060395C>T | CA496414925 | HP,TXNL4B | c.726C>T (p.Tyr242=) c.351C>T (p.Tyr117=) c.834C>T (p.Tyr278=) c.549C>T (p.Tyr183=) c.285-16038G>A (n.285-16038G>A) c.266-268C>T (n.266-268C>T) c.429C>T (p.Tyr143=) n.2365C>T c.718C>T c.601C>T | |
16 | g.72060396T>A | CA396677542 | HP,TXNL4B | c.727T>A (p.Ser243Thr) c.352T>A (p.Ser118Thr) c.835T>A (p.Ser279Thr) c.550T>A (p.Ser184Thr) c.285-16039A>T (n.285-16039A>T) c.266-267T>A (n.266-267T>A) c.430T>A (p.Ser144Thr) n.2366T>A c.719T>A c.602T>A | |
16 | g.72060396T>C | CA8159176 | HP,TXNL4B | c.727T>C (p.Ser243Pro) c.352T>C (p.Ser118Pro) c.835T>C (p.Ser279Pro) c.550T>C (p.Ser184Pro) c.285-16039A>G (n.285-16039A>G) c.266-267T>C (n.266-267T>C) c.430T>C (p.Ser144Pro) n.2366T>C c.719T>C c.602T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060396T>G | CA396677544 | HP,TXNL4B | c.727T>G (p.Ser243Ala) c.352T>G (p.Ser118Ala) c.835T>G (p.Ser279Ala) c.550T>G (p.Ser184Ala) c.285-16039A>C (n.285-16039A>C) c.266-267T>G (n.266-267T>G) c.430T>G (p.Ser144Ala) n.2366T>G c.719T>G c.602T>G | |
16 | g.72060396T= | CA2231555240 | HP,TXNL4B | c.727T= (p.Ser243=) c.352T= (p.Ser118=) c.835T= (p.Ser279=) c.550T= (p.Ser184=) c.285-16039A= (n.285-16039A=) c.266-267T= (n.266-267T=) c.430T= (p.Ser144=) n.2366T= c.719T= c.602T= | |
16 | g.72060397C>A | CA8159177 | HP,TXNL4B | c.728C>A (p.Ser243Tyr) c.353C>A (p.Ser118Tyr) c.836C>A (p.Ser279Tyr) c.551C>A (p.Ser184Tyr) c.285-16040G>T (n.285-16040G>T) c.266-266C>A (n.266-266C>A) c.431C>A (p.Ser144Tyr) n.2367C>A c.720C>A c.603C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060397C= | CA2231555241 | HP,TXNL4B | c.728C= (p.Ser243=) c.353C= (p.Ser118=) c.836C= (p.Ser279=) c.551C= (p.Ser184=) c.285-16040G= (n.285-16040G=) c.266-266C= (n.266-266C=) c.431C= (p.Ser144=) n.2367C= c.720C= c.603C= | |
16 | g.72060397C>G | CA396677547 | HP,TXNL4B | c.728C>G (p.Ser243Cys) c.353C>G (p.Ser118Cys) c.836C>G (p.Ser279Cys) c.551C>G (p.Ser184Cys) c.285-16040G>C (n.285-16040G>C) c.266-266C>G (n.266-266C>G) c.431C>G (p.Ser144Cys) n.2367C>G c.720C>G c.603C>G | |
16 | g.72060397C>T | CA396677548 | HP,TXNL4B | c.728C>T (p.Ser243Phe) c.353C>T (p.Ser118Phe) c.836C>T (p.Ser279Phe) c.551C>T (p.Ser184Phe) c.285-16040G>A (n.285-16040G>A) c.266-266C>T (n.266-266C>T) c.431C>T (p.Ser144Phe) n.2367C>T c.720C>T c.603C>T | dbSNP |
16 | g.72060398C>A | CA496414930 | HP,TXNL4B | c.729C>A (p.Ser243=) c.354C>A (p.Ser118=) c.837C>A (p.Ser279=) c.552C>A (p.Ser184=) c.285-16041G>T (n.285-16041G>T) c.266-265C>A (n.266-265C>A) c.432C>A (p.Ser144=) n.2368C>A c.721C>A c.604C>A | |
16 | g.72060398C>G | CA496414931 | HP,TXNL4B | c.729C>G (p.Ser243=) c.354C>G (p.Ser118=) c.837C>G (p.Ser279=) c.552C>G (p.Ser184=) c.285-16041G>C (n.285-16041G>C) c.266-265C>G (n.266-265C>G) c.432C>G (p.Ser144=) n.2368C>G c.721C>G c.604C>G | |
16 | g.72060398C>T | CA496414932 | HP,TXNL4B | c.729C>T (p.Ser243=) c.354C>T (p.Ser118=) c.837C>T (p.Ser279=) c.552C>T (p.Ser184=) c.285-16041G>A (n.285-16041G>A) c.266-265C>T (n.266-265C>T) c.432C>T (p.Ser144=) n.2368C>T c.721C>T c.604C>T | |
16 | g.72060399C>A | CA396677550 | HP,TXNL4B | c.730C>A (p.Gln244Lys) c.355C>A (p.Gln119Lys) c.838C>A (p.Gln280Lys) c.553C>A (p.Gln185Lys) c.285-16042G>T (n.285-16042G>T) c.266-264C>A (n.266-264C>A) c.433C>A (p.Gln145Lys) n.2369C>A c.722C>A c.605C>A | |
16 | g.72060399C= | CA2231555242 | HP,TXNL4B | c.730C= (p.Gln244=) c.355C= (p.Gln119=) c.838C= (p.Gln280=) c.553C= (p.Gln185=) c.285-16042G= (n.285-16042G=) c.266-264C= (n.266-264C=) c.433C= (p.Gln145=) n.2369C= c.722C= c.605C= | |
16 | g.72060399C>G | CA396677552 | HP,TXNL4B | c.730C>G (p.Gln244Glu) c.355C>G (p.Gln119Glu) c.838C>G (p.Gln280Glu) c.553C>G (p.Gln185Glu) c.285-16042G>C (n.285-16042G>C) c.266-264C>G (n.266-264C>G) c.433C>G (p.Gln145Glu) n.2369C>G c.722C>G c.605C>G | |
16 | g.72060399C>T | CA8159178 | HP,TXNL4B | c.730C>T (p.Gln244Ter) c.355C>T (p.Gln119Ter) c.838C>T (p.Gln280Ter) c.553C>T (p.Gln185Ter) c.285-16042G>A (n.285-16042G>A) c.266-264C>T (n.266-264C>T) c.433C>T (p.Gln145Ter) n.2369C>T c.722C>T c.605C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060400A>C | CA396677554 | HP,TXNL4B | c.731A>C (p.Gln244Pro) c.356A>C (p.Gln119Pro) c.839A>C (p.Gln280Pro) c.554A>C (p.Gln185Pro) c.285-16043T>G (n.285-16043T>G) c.266-263A>C (n.266-263A>C) c.434A>C (p.Gln145Pro) n.2370A>C c.723A>C c.606A>C | |
16 | g.72060400A>G | CA396677555 | HP,TXNL4B | c.731A>G (p.Gln244Arg) c.356A>G (p.Gln119Arg) c.839A>G (p.Gln280Arg) c.554A>G (p.Gln185Arg) c.285-16043T>C (n.285-16043T>C) c.266-263A>G (n.266-263A>G) c.434A>G (p.Gln145Arg) n.2370A>G c.723A>G c.606A>G | |
16 | g.72060400A>T | CA396677557 | HP,TXNL4B | c.731A>T (p.Gln244Leu) c.356A>T (p.Gln119Leu) c.839A>T (p.Gln280Leu) c.554A>T (p.Gln185Leu) c.285-16043T>A (n.285-16043T>A) c.266-263A>T (n.266-263A>T) c.434A>T (p.Gln145Leu) n.2370A>T c.723A>T c.606A>T | |
16 | g.72060401G>A | CA283640913 | HP,TXNL4B | c.732G>A (p.Gln244=) c.357G>A (p.Gln119=) c.840G>A (p.Gln280=) c.555G>A (p.Gln185=) c.285-16044C>T (n.285-16044C>T) c.266-262G>A (n.266-262G>A) c.435G>A (p.Gln145=) n.2371G>A c.724G>A c.607G>A | dbSNP |
16 | g.72060401G>C | CA396677558 | HP,TXNL4B | c.732G>C (p.Gln244His) c.357G>C (p.Gln119His) c.840G>C (p.Gln280His) c.555G>C (p.Gln185His) c.285-16044C>G (n.285-16044C>G) c.266-262G>C (n.266-262G>C) c.435G>C (p.Gln145His) n.2371G>C c.724G>C c.607G>C | |
16 | g.72060401G= | CA2231555243 | HP,TXNL4B | c.732G= (p.Gln244=) c.357G= (p.Gln119=) c.840G= (p.Gln280=) c.555G= (p.Gln185=) c.285-16044C= (n.285-16044C=) c.266-262G= (n.266-262G=) c.435G= (p.Gln145=) n.2371G= c.724G= c.607G= | |
16 | g.72060401G>T | CA396677560 | HP,TXNL4B | c.732G>T (p.Gln244His) c.357G>T (p.Gln119His) c.840G>T (p.Gln280His) c.555G>T (p.Gln185His) c.285-16044C>A (n.285-16044C>A) c.266-262G>T (n.266-262G>T) c.435G>T (p.Gln145His) n.2371G>T c.724G>T c.607G>T | |
16 | g.72060402G>A | CA396677561 | HP,TXNL4B | c.733G>A (p.Val245Ile) c.358G>A (p.Val120Ile) c.841G>A (p.Val281Ile) c.556G>A (p.Val186Ile) c.285-16045C>T (n.285-16045C>T) c.266-261G>A (n.266-261G>A) c.436G>A (p.Val146Ile) n.2372G>A c.725G>A c.608G>A | |
16 | g.72060402G>C | CA396677563 | HP,TXNL4B | c.733G>C (p.Val245Leu) c.358G>C (p.Val120Leu) c.841G>C (p.Val281Leu) c.556G>C (p.Val186Leu) c.285-16045C>G (n.285-16045C>G) c.266-261G>C (n.266-261G>C) c.436G>C (p.Val146Leu) n.2372G>C c.725G>C c.608G>C | |
16 | g.72060402G= | CA2231555244 | HP,TXNL4B | c.733G= (p.Val245=) c.358G= (p.Val120=) c.841G= (p.Val281=) c.556G= (p.Val186=) c.285-16045C= (n.285-16045C=) c.266-261G= (n.266-261G=) c.436G= (p.Val146=) n.2372G= c.725G= c.608G= | |
16 | g.72060402G>T | CA396677564 | HP,TXNL4B | c.733G>T (p.Val245Leu) c.358G>T (p.Val120Leu) c.841G>T (p.Val281Leu) c.556G>T (p.Val186Leu) c.285-16045C>A (n.285-16045C>A) c.266-261G>T (n.266-261G>T) c.436G>T (p.Val146Leu) n.2372G>T c.725G>T c.608G>T | |
16 | g.72060403T>A | CA396677566 | HP,TXNL4B | c.734T>A (p.Val245Glu) c.359T>A (p.Val120Glu) c.842T>A (p.Val281Glu) c.557T>A (p.Val186Glu) c.285-16046A>T (n.285-16046A>T) c.266-260T>A (n.266-260T>A) c.437T>A (p.Val146Glu) n.2373T>A c.726T>A c.609T>A | |
16 | g.72060403T>C | CA396677568 | HP,TXNL4B | c.734T>C (p.Val245Ala) c.359T>C (p.Val120Ala) c.842T>C (p.Val281Ala) c.557T>C (p.Val186Ala) c.285-16046A>G (n.285-16046A>G) c.266-260T>C (n.266-260T>C) c.437T>C (p.Val146Ala) n.2373T>C c.726T>C c.609T>C | |
16 | g.72060403T>G | CA396677569 | HP,TXNL4B | c.734T>G (p.Val245Gly) c.359T>G (p.Val120Gly) c.842T>G (p.Val281Gly) c.557T>G (p.Val186Gly) c.285-16046A>C (n.285-16046A>C) c.266-260T>G (n.266-260T>G) c.437T>G (p.Val146Gly) n.2373T>G c.726T>G c.609T>G | |
16 | g.72060405_72060408dup | CA919737552 | HP,TXNL4B | c.736_739dup (p.Ile247ArgfsTer14) c.361_364dup (p.Ile122ArgfsTer14) c.844_847dup (p.Ile283ArgfsTer14) c.559_562dup (p.Ile188ArgfsTer14) c.285-16049_285-16046dup (n.285-16049_285-16046dup) c.266-258_266-255dup (n.266-258_266-255dup) c.439_442dup (p.Ile148ArgfsTer14) n.2375_2378dup c.728_731dup c.611_614dup | dbSNP gnomAD v4 |
16 | g.72060404A= | CA2231555245 | HP,TXNL4B | c.735A= (p.Val245=) c.360A= (p.Val120=) c.843A= (p.Val281=) c.558A= (p.Val186=) c.285-16047T= (n.285-16047T=) c.266-259A= (n.266-259A=) c.438A= (p.Val146=) n.2374A= c.727A= c.610A= | |
16 | g.72060404A>C | CA496414938 | HP,TXNL4B | c.735A>C (p.Val245=) c.360A>C (p.Val120=) c.843A>C (p.Val281=) c.558A>C (p.Val186=) c.285-16047T>G (n.285-16047T>G) c.266-259A>C (n.266-259A>C) c.438A>C (p.Val146=) n.2374A>C c.727A>C c.610A>C | |
16 | g.72060404A>G | CA8159179 | HP,TXNL4B | c.735A>G (p.Val245=) c.360A>G (p.Val120=) c.843A>G (p.Val281=) c.558A>G (p.Val186=) c.285-16047T>C (n.285-16047T>C) c.266-259A>G (n.266-259A>G) c.438A>G (p.Val146=) n.2374A>G c.727A>G c.610A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.72060404A>T | CA496414936 | HP,TXNL4B | c.735A>T (p.Val245=) c.360A>T (p.Val120=) c.843A>T (p.Val281=) c.558A>T (p.Val186=) c.285-16047T>A (n.285-16047T>A) c.266-259A>T (n.266-259A>T) c.438A>T (p.Val146=) n.2374A>T c.727A>T c.610A>T | |
16 | g.72060405G>A | CA396677575 | HP,TXNL4B | c.736G>A (p.Asp246Asn) c.361G>A (p.Asp121Asn) c.844G>A (p.Asp282Asn) c.559G>A (p.Asp187Asn) c.285-16048C>T (n.285-16048C>T) c.266-258G>A (n.266-258G>A) c.439G>A (p.Asp147Asn) n.2375G>A c.728G>A c.611G>A | |
16 | g.72060405G>C | CA396677572 | HP,TXNL4B | c.736G>C (p.Asp246His) c.361G>C (p.Asp121His) c.844G>C (p.Asp282His) c.559G>C (p.Asp187His) c.285-16048C>G (n.285-16048C>G) c.266-258G>C (n.266-258G>C) c.439G>C (p.Asp147His) n.2375G>C c.728G>C c.611G>C | |
16 | g.72060405G>T | CA396677574 | HP,TXNL4B | c.736G>T (p.Asp246Tyr) c.361G>T (p.Asp121Tyr) c.844G>T (p.Asp282Tyr) c.559G>T (p.Asp187Tyr) c.285-16048C>A (n.285-16048C>A) c.266-258G>T (n.266-258G>T) c.439G>T (p.Asp147Tyr) n.2375G>T c.728G>T c.611G>T | |
16 | g.72060406A= | CA2231555246 | HP,TXNL4B | c.737A= (p.Asp246=) c.362A= (p.Asp121=) c.845A= (p.Asp282=) c.560A= (p.Asp187=) c.285-16049T= (n.285-16049T=) c.266-257A= (n.266-257A=) c.440A= (p.Asp147=) n.2376A= c.729A= c.612A= | |
16 | g.72060406A>C | CA396677576 | HP,TXNL4B | c.737A>C (p.Asp246Ala) c.362A>C (p.Asp121Ala) c.845A>C (p.Asp282Ala) c.560A>C (p.Asp187Ala) c.285-16049T>G (n.285-16049T>G) c.266-257A>C (n.266-257A>C) c.440A>C (p.Asp147Ala) n.2376A>C c.729A>C c.612A>C | |
16 | g.72060406A>G | CA396677578 | HP,TXNL4B | c.737A>G (p.Asp246Gly) c.362A>G (p.Asp121Gly) c.845A>G (p.Asp282Gly) c.560A>G (p.Asp187Gly) c.285-16049T>C (n.285-16049T>C) c.266-257A>G (n.266-257A>G) c.440A>G (p.Asp147Gly) n.2376A>G c.729A>G c.612A>G | |
16 | g.72060406A>T | CA396677579 | HP,TXNL4B | c.737A>T (p.Asp246Val) c.362A>T (p.Asp121Val) c.845A>T (p.Asp282Val) c.560A>T (p.Asp187Val) c.285-16049T>A (n.285-16049T>A) c.266-257A>T (n.266-257A>T) c.440A>T (p.Asp147Val) n.2376A>T c.729A>T c.612A>T | dbSNP |
16 | g.72060407T>A | CA396677582 | HP,TXNL4B | c.738T>A (p.Asp246Glu) c.363T>A (p.Asp121Glu) c.846T>A (p.Asp282Glu) c.561T>A (p.Asp187Glu) c.285-16050A>T (n.285-16050A>T) c.266-256T>A (n.266-256T>A) c.441T>A (p.Asp147Glu) n.2377T>A c.730T>A c.613T>A | |
16 | g.72060407T>C | CA8159180 | HP,TXNL4B | c.738T>C (p.Asp246=) c.363T>C (p.Asp121=) c.846T>C (p.Asp282=) c.561T>C (p.Asp187=) c.285-16050A>G (n.285-16050A>G) c.266-256T>C (n.266-256T>C) c.441T>C (p.Asp147=) n.2377T>C c.730T>C c.613T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060407T>G | CA396677583 | HP,TXNL4B | c.738T>G (p.Asp246Glu) c.363T>G (p.Asp121Glu) c.846T>G (p.Asp282Glu) c.561T>G (p.Asp187Glu) c.285-16050A>C (n.285-16050A>C) c.266-256T>G (n.266-256T>G) c.441T>G (p.Asp147Glu) n.2377T>G c.730T>G c.613T>G | |
16 | g.72060407T= | CA2231555247 | HP,TXNL4B | c.738T= (p.Asp246=) c.363T= (p.Asp121=) c.846T= (p.Asp282=) c.561T= (p.Asp187=) c.285-16050A= (n.285-16050A=) c.266-256T= (n.266-256T=) c.441T= (p.Asp147=) n.2377T= c.730T= c.613T= | |
16 | g.72060408A>C | CA396677585 | HP,TXNL4B | c.739A>C (p.Ile247Leu) c.364A>C (p.Ile122Leu) c.847A>C (p.Ile283Leu) c.562A>C (p.Ile188Leu) c.285-16051T>G (n.285-16051T>G) c.266-255A>C (n.266-255A>C) c.442A>C (p.Ile148Leu) n.2378A>C c.731A>C c.614A>C | |
16 | g.72060408A>G | CA396677587 | HP,TXNL4B | c.739A>G (p.Ile247Val) c.364A>G (p.Ile122Val) c.847A>G (p.Ile283Val) c.562A>G (p.Ile188Val) c.285-16051T>C (n.285-16051T>C) c.266-255A>G (n.266-255A>G) c.442A>G (p.Ile148Val) n.2378A>G c.731A>G c.614A>G | |
16 | g.72060408A>T | CA396677588 | HP,TXNL4B | c.739A>T (p.Ile247Phe) c.364A>T (p.Ile122Phe) c.847A>T (p.Ile283Phe) c.562A>T (p.Ile188Phe) c.285-16051T>A (n.285-16051T>A) c.266-255A>T (n.266-255A>T) c.442A>T (p.Ile148Phe) n.2378A>T c.731A>T c.614A>T | |
16 | g.72060409T>A | CA396677590 | HP,TXNL4B | c.740T>A (p.Ile247Asn) c.365T>A (p.Ile122Asn) c.848T>A (p.Ile283Asn) c.563T>A (p.Ile188Asn) c.285-16052A>T (n.285-16052A>T) c.266-254T>A (n.266-254T>A) c.443T>A (p.Ile148Asn) n.2379T>A c.732T>A c.615T>A | gnomAD v4 |
16 | g.72060409T>C | CA126032 | HP,TXNL4B | c.740T>C (p.Ile247Thr) c.365T>C (p.Ile122Thr) c.848T>C (p.Ile283Thr) c.563T>C (p.Ile188Thr) c.285-16052A>G (n.285-16052A>G) c.266-254T>C (n.266-254T>C) c.443T>C (p.Ile148Thr) n.2379T>C c.732T>C c.615T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.72060409T>G | CA396677592 | HP,TXNL4B | c.740T>G (p.Ile247Ser) c.365T>G (p.Ile122Ser) c.848T>G (p.Ile283Ser) c.563T>G (p.Ile188Ser) c.285-16052A>C (n.285-16052A>C) c.266-254T>G (n.266-254T>G) c.443T>G (p.Ile148Ser) n.2379T>G c.732T>G c.615T>G | |
16 | g.72060409T= | CA2231555248 | HP,TXNL4B | c.740T= (p.Ile247=) c.365T= (p.Ile122=) c.848T= (p.Ile283=) c.563T= (p.Ile188=) c.285-16052A= (n.285-16052A=) c.266-254T= (n.266-254T=) c.443T= (p.Ile148=) n.2379T= c.732T= c.615T= | |
16 | g.72060410T>A | CA496414943 | HP,TXNL4B | c.741T>A (p.Ile247=) c.366T>A (p.Ile122=) c.849T>A (p.Ile283=) c.564T>A (p.Ile188=) c.285-16053A>T (n.285-16053A>T) c.266-253T>A (n.266-253T>A) c.444T>A (p.Ile148=) n.2380T>A c.733T>A c.616T>A | |
16 | g.72060410T>C | CA496414947 | HP,TXNL4B | c.741T>C (p.Ile247=) c.366T>C (p.Ile122=) c.849T>C (p.Ile283=) c.564T>C (p.Ile188=) c.285-16053A>G (n.285-16053A>G) c.266-253T>C (n.266-253T>C) c.444T>C (p.Ile148=) n.2380T>C c.733T>C c.616T>C | gnomAD v4 |
16 | g.72060410T>G | CA396677594 | HP,TXNL4B | c.741T>G (p.Ile247Met) c.366T>G (p.Ile122Met) c.849T>G (p.Ile283Met) c.564T>G (p.Ile188Met) c.285-16053A>C (n.285-16053A>C) c.266-253T>G (n.266-253T>G) c.444T>G (p.Ile148Met) n.2380T>G c.733T>G c.616T>G | |
16 | g.72060411G>A | CA396677596 | HP,TXNL4B | c.742G>A (p.Gly248Arg) c.367G>A (p.Gly123Arg) c.850G>A (p.Gly284Arg) c.565G>A (p.Gly189Arg) c.285-16054C>T (n.285-16054C>T) c.266-252G>A (n.266-252G>A) c.445G>A (p.Gly149Arg) n.2381G>A c.734G>A c.617G>A | |
16 | g.72060411G>C | CA283640930 | HP,TXNL4B | c.742G>C (p.Gly248Arg) c.367G>C (p.Gly123Arg) c.850G>C (p.Gly284Arg) c.565G>C (p.Gly189Arg) c.285-16054C>G (n.285-16054C>G) c.266-252G>C (n.266-252G>C) c.445G>C (p.Gly149Arg) n.2381G>C c.734G>C c.617G>C | dbSNP |
16 | g.72060411G= | CA2231555249 | HP,TXNL4B | c.742G= (p.Gly248=) c.367G= (p.Gly123=) c.850G= (p.Gly284=) c.565G= (p.Gly189=) c.285-16054C= (n.285-16054C=) c.266-252G= (n.266-252G=) c.445G= (p.Gly149=) n.2381G= c.734G= c.617G= | |
16 | g.72060411G>T | CA396677597 | HP,TXNL4B | c.742G>T (p.Gly248Trp) c.367G>T (p.Gly123Trp) c.850G>T (p.Gly284Trp) c.565G>T (p.Gly189Trp) c.285-16054C>A (n.285-16054C>A) c.266-252G>T (n.266-252G>T) c.445G>T (p.Gly149Trp) n.2381G>T c.734G>T c.617G>T |