| 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.72060309G>A | CA396677189 | HP,TXNL4B | c.640G>A (p.Ala214Thr) c.265G>A (p.Ala89Thr) c.748G>A (p.Ala250Thr) c.463G>A (p.Ala155Thr) c.285-15952C>T (n.285-15952C>T) c.266-354G>A (n.266-354G>A) c.343G>A (p.Ala115Thr) n.2279G>A c.632G>A c.515G>A | |
| 16 | g.72060309G>C | CA396677192 | HP,TXNL4B | c.640G>C (p.Ala214Pro) c.265G>C (p.Ala89Pro) c.748G>C (p.Ala250Pro) c.463G>C (p.Ala155Pro) c.285-15952C>G (n.285-15952C>G) c.266-354G>C (n.266-354G>C) c.343G>C (p.Ala115Pro) n.2279G>C c.632G>C c.515G>C | |
| 16 | g.72060309G>T | CA396677194 | HP,TXNL4B | c.640G>T (p.Ala214Ser) c.265G>T (p.Ala89Ser) c.748G>T (p.Ala250Ser) c.463G>T (p.Ala155Ser) c.285-15952C>A (n.285-15952C>A) c.266-354G>T (n.266-354G>T) c.343G>T (p.Ala115Ser) n.2279G>T c.632G>T c.515G>T | |
| 16 | g.72060310del | CA2576057060 | HP,TXNL4B | c.641del (p.Ala214GlyfsTer8) c.266del (p.Ala89GlyfsTer8) c.749del (p.Ala250GlyfsTer8) c.464del (p.Ala155GlyfsTer8) c.285-15953del (n.285-15953del) c.266-353del (n.266-353del) c.344del (p.Ala115GlyfsTer8) n.2280del c.633del c.516del | gnomAD v4 |
| 16 | g.72060310C>A | CA396677197 | HP,TXNL4B | c.641C>A (p.Ala214Glu) c.266C>A (p.Ala89Glu) c.749C>A (p.Ala250Glu) c.464C>A (p.Ala155Glu) c.285-15953G>T (n.285-15953G>T) c.266-353C>A (n.266-353C>A) c.344C>A (p.Ala115Glu) n.2280C>A c.633C>A c.516C>A | |
| 16 | g.72060310C= | CA2231555201 | HP,TXNL4B | c.641C= (p.Ala214=) c.266C= (p.Ala89=) c.749C= (p.Ala250=) c.464C= (p.Ala155=) c.285-15953G= (n.285-15953G=) c.266-353C= (n.266-353C=) c.344C= (p.Ala115=) n.2280C= c.633C= c.516C= | |
| 16 | g.72060310C>G | CA396677199 | HP,TXNL4B | c.641C>G (p.Ala214Gly) c.266C>G (p.Ala89Gly) c.749C>G (p.Ala250Gly) c.464C>G (p.Ala155Gly) c.285-15953G>C (n.285-15953G>C) c.266-353C>G (n.266-353C>G) c.344C>G (p.Ala115Gly) n.2280C>G c.633C>G c.516C>G | |
| 16 | g.72060310C>T | CA8159155 | HP,TXNL4B | c.641C>T (p.Ala214Val) c.266C>T (p.Ala89Val) c.749C>T (p.Ala250Val) c.464C>T (p.Ala155Val) c.285-15953G>A (n.285-15953G>A) c.266-353C>T (n.266-353C>T) c.344C>T (p.Ala115Val) n.2280C>T c.633C>T c.516C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |