| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.115418319_115418321del | CA2688317755 | TRPS1 | c.2823+11_2823+13del (n.2823+11_2823+13del) c.2784+11_2784+13del (n.2784+11_2784+13del) c.157+11_157+13del c.2046+11_2046+13del (n.2046+11_2046+13del) c.2796+11_2796+13del (n.2796+11_2796+13del) c.2802+11_2802+13del (n.2802+11_2802+13del) | gnomAD v4 |
| 8 | g.115418323T>C | CA584658984 | TRPS1 | c.2823+7A>G (n.2823+7A>G) c.2784+7A>G (n.2784+7A>G) c.157+7A>G c.2046+7A>G (n.2046+7A>G) c.2796+7A>G (n.2796+7A>G) c.2802+7A>G (n.2802+7A>G) | dbSNP gnomAD v2 |
| 8 | g.115418323T>G | CA2688317757 | TRPS1 | c.2823+7A>C (n.2823+7A>C) c.2784+7A>C (n.2784+7A>C) c.157+7A>C c.2046+7A>C (n.2046+7A>C) c.2796+7A>C (n.2796+7A>C) c.2802+7A>C (n.2802+7A>C) | gnomAD v4 |
| 8 | g.115418323T= | CA1812857351 | TRPS1 | c.2823+7A= (n.2823+7A=) c.2784+7A= (n.2784+7A=) c.157+7A= c.2046+7A= (n.2046+7A=) c.2796+7A= (n.2796+7A=) c.2802+7A= (n.2802+7A=) | |
| 8 | g.115418325C= | CA1812857352 | TRPS1 | c.2823+5G= (n.2823+5G=) c.2784+5G= (n.2784+5G=) c.157+5G= c.2046+5G= (n.2046+5G=) c.2796+5G= (n.2796+5G=) c.2802+5G= (n.2802+5G=) | |
| 8 | g.115418325C>T | CA1812857353 | TRPS1 | c.2823+5G>A (n.2823+5G>A) c.2784+5G>A (n.2784+5G>A) c.157+5G>A c.2046+5G>A (n.2046+5G>A) c.2796+5G>A (n.2796+5G>A) c.2802+5G>A (n.2802+5G>A) | dbSNP gnomAD v4 |
| 8 | g.115418326T>G | CA584658986 | TRPS1 | c.2823+4A>C (n.2823+4A>C) c.2784+4A>C (n.2784+4A>C) c.157+4A>C c.2046+4A>C (n.2046+4A>C) c.2796+4A>C (n.2796+4A>C) c.2802+4A>C (n.2802+4A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115418326T= | CA1812857354 | TRPS1 | c.2823+4A= (n.2823+4A=) c.2784+4A= (n.2784+4A=) c.157+4A= c.2046+4A= (n.2046+4A=) c.2796+4A= (n.2796+4A=) c.2802+4A= (n.2802+4A=) | |
| 8 | g.115418327T>C | CA584658988 | TRPS1 | c.2823+3A>G (n.2823+3A>G) c.2784+3A>G (n.2784+3A>G) c.157+3A>G c.2046+3A>G (n.2046+3A>G) c.2796+3A>G (n.2796+3A>G) c.2802+3A>G (n.2802+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115418327T= | CA1812857356 | TRPS1 | c.2823+3A= (n.2823+3A=) c.2784+3A= (n.2784+3A=) c.157+3A= c.2046+3A= (n.2046+3A=) c.2796+3A= (n.2796+3A=) c.2802+3A= (n.2802+3A=) | |
| 8 | g.115418328A>C | CA372064158 | TRPS1 | c.2823+2T>G (n.2823+2T>G) c.2784+2T>G (n.2784+2T>G) c.157+2T>G c.2046+2T>G (n.2046+2T>G) c.2796+2T>G (n.2796+2T>G) c.2802+2T>G (n.2802+2T>G) | |
| 8 | g.115418328A>G | CA372064160 | TRPS1 | c.2823+2T>C (n.2823+2T>C) c.2784+2T>C (n.2784+2T>C) c.157+2T>C c.2046+2T>C (n.2046+2T>C) c.2796+2T>C (n.2796+2T>C) c.2802+2T>C (n.2802+2T>C) | |
| 8 | g.115418328A>T | CA372064159 | TRPS1 | c.2823+2T>A (n.2823+2T>A) c.2784+2T>A (n.2784+2T>A) c.157+2T>A c.2046+2T>A (n.2046+2T>A) c.2796+2T>A (n.2796+2T>A) c.2802+2T>A (n.2802+2T>A) | |
| 8 | g.115418329C>A | CA372064161 | TRPS1 | c.2823+1G>T (n.2823+1G>T) c.2784+1G>T (n.2784+1G>T) c.157+1G>T c.2046+1G>T (n.2046+1G>T) c.2796+1G>T (n.2796+1G>T) c.2802+1G>T (n.2802+1G>T) | ClinVar dbSNP |
| 8 | g.115418329C= | CA1812857362 | TRPS1 | c.2823+1G= (n.2823+1G=) c.2784+1G= (n.2784+1G=) c.157+1G= c.2046+1G= (n.2046+1G=) c.2796+1G= (n.2796+1G=) c.2802+1G= (n.2802+1G=) | |
| 8 | g.115418329C>G | CA372064163 | TRPS1 | c.2823+1G>C (n.2823+1G>C) c.2784+1G>C (n.2784+1G>C) c.157+1G>C c.2046+1G>C (n.2046+1G>C) c.2796+1G>C (n.2796+1G>C) c.2802+1G>C (n.2802+1G>C) | |
| 8 | g.115418329C>T | CA372064162 | TRPS1 | c.2823+1G>A (n.2823+1G>A) c.2784+1G>A (n.2784+1G>A) c.157+1G>A c.2046+1G>A (n.2046+1G>A) c.2796+1G>A (n.2796+1G>A) c.2802+1G>A (n.2802+1G>A) | COSMIC |
| 8 | g.115418330C>A | CA462631391 | TRPS1 | c.2823G>T (p.Ser941=) c.2784G>T (p.Ser928=) c.157G>T c.2046G>T (p.Ser682=) c.2796G>T (p.Ser932=) c.2802G>T (p.Ser934=) | dbSNP gnomAD v4 |
| 8 | g.115418330C= | CA1812857368 | TRPS1 | c.2823G= (p.Ser941=) c.2784G= (p.Ser928=) c.157G= c.2046G= (p.Ser682=) c.2796G= (p.Ser932=) c.2802G= (p.Ser934=) | |
| 8 | g.115418330C>G | CA462631392 | TRPS1 | c.2823G>C (p.Ser941=) c.2784G>C (p.Ser928=) c.157G>C c.2046G>C (p.Ser682=) c.2796G>C (p.Ser932=) c.2802G>C (p.Ser934=) | |
| 8 | g.115418330C>T | CA4851574 | TRPS1 | c.2823G>A (p.Ser941=) c.2784G>A (p.Ser928=) c.157G>A c.2046G>A (p.Ser682=) c.2796G>A (p.Ser932=) c.2802G>A (p.Ser934=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115418331G>A | CA4851575 | TRPS1 | c.2822C>T (p.Ser941Leu) c.2783C>T (p.Ser928Leu) c.156C>T c.2045C>T (p.Ser682Leu) c.2795C>T (p.Ser932Leu) c.2801C>T (p.Ser934Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115418331G>C | CA372064164 | TRPS1 | c.2822C>G (p.Ser941Trp) c.2783C>G (p.Ser928Trp) c.156C>G c.2045C>G (p.Ser682Trp) c.2795C>G (p.Ser932Trp) c.2801C>G (p.Ser934Trp) | |
| 8 | g.115418331G= | CA1812857378 | TRPS1 | c.2822C= (p.Ser941=) c.2783C= (p.Ser928=) c.156C= c.2045C= (p.Ser682=) c.2795C= (p.Ser932=) c.2801C= (p.Ser934=) | |
| 8 | g.115418331G>T | CA10603082 | TRPS1 | c.2822C>A (p.Ser941Ter) c.2783C>A (p.Ser928Ter) c.156C>A c.2045C>A (p.Ser682Ter) c.2795C>A (p.Ser932Ter) c.2801C>A (p.Ser934Ter) | ClinVar dbSNP |
| 8 | g.115418332A>C | CA372064165 | TRPS1 | c.2821T>G (p.Ser941Ala) c.2782T>G (p.Ser928Ala) c.155T>G c.2044T>G (p.Ser682Ala) c.2794T>G (p.Ser932Ala) c.2800T>G (p.Ser934Ala) | |
| 8 | g.115418332A>G | CA372064166 | TRPS1 | c.2821T>C (p.Ser941Pro) c.2782T>C (p.Ser928Pro) c.155T>C c.2044T>C (p.Ser682Pro) c.2794T>C (p.Ser932Pro) c.2800T>C (p.Ser934Pro) | |
| 8 | g.115418332A>T | CA372064167 | TRPS1 | c.2821T>A (p.Ser941Thr) c.2782T>A (p.Ser928Thr) c.155T>A c.2044T>A (p.Ser682Thr) c.2794T>A (p.Ser932Thr) c.2800T>A (p.Ser934Thr) | COSMIC COSMIC |
| 8 | g.115418333G>A | CA184471325 | TRPS1 | c.2820C>T (p.His940=) c.2781C>T (p.His927=) c.154C>T c.2043C>T (p.His681=) c.2793C>T (p.His931=) c.2799C>T (p.His933=) | dbSNP gnomAD v4 |
| 8 | g.115418333G>C | CA372064168 | TRPS1 | c.2820C>G (p.His940Gln) c.2781C>G (p.His927Gln) c.154C>G c.2043C>G (p.His681Gln) c.2793C>G (p.His931Gln) c.2799C>G (p.His933Gln) | |
| 8 | g.115418333G= | CA1812857382 | TRPS1 | c.2820C= (p.His940=) c.2781C= (p.His927=) c.154C= c.2043C= (p.His681=) c.2793C= (p.His931=) c.2799C= (p.His933=) | |
| 8 | g.115418333G>T | CA372064169 | TRPS1 | c.2820C>A (p.His940Gln) c.2781C>A (p.His927Gln) c.154C>A c.2043C>A (p.His681Gln) c.2793C>A (p.His931Gln) c.2799C>A (p.His933Gln) | |
| 8 | g.115418334T>A | CA372064172 | TRPS1 | c.2819A>T (p.His940Leu) c.2780A>T (p.His927Leu) c.153A>T c.2042A>T (p.His681Leu) c.2792A>T (p.His931Leu) c.2798A>T (p.His933Leu) | |
| 8 | g.115418334T>C | CA372064171 | TRPS1 | c.2819A>G (p.His940Arg) c.2780A>G (p.His927Arg) c.153A>G c.2042A>G (p.His681Arg) c.2792A>G (p.His931Arg) c.2798A>G (p.His933Arg) | |
| 8 | g.115418334T>G | CA372064170 | TRPS1 | c.2819A>C (p.His940Pro) c.2780A>C (p.His927Pro) c.153A>C c.2042A>C (p.His681Pro) c.2792A>C (p.His931Pro) c.2798A>C (p.His933Pro) | |
| 8 | g.115418335G>A | CA372064173 | TRPS1 | c.2818C>T (p.His940Tyr) c.2779C>T (p.His927Tyr) c.152C>T c.2041C>T (p.His681Tyr) c.2791C>T (p.His931Tyr) c.2797C>T (p.His933Tyr) | |
| 8 | g.115418335G>C | CA372064174 | TRPS1 | c.2818C>G (p.His940Asp) c.2779C>G (p.His927Asp) c.152C>G c.2041C>G (p.His681Asp) c.2791C>G (p.His931Asp) c.2797C>G (p.His933Asp) | |
| 8 | g.115418335G>T | CA372064175 | TRPS1 | c.2818C>A (p.His940Asn) c.2779C>A (p.His927Asn) c.152C>A c.2041C>A (p.His681Asn) c.2791C>A (p.His931Asn) c.2797C>A (p.His933Asn) | |
| 8 | g.115418336A>C | CA462631393 | TRPS1 | c.2817T>G (p.Leu939=) c.2778T>G (p.Leu926=) c.151T>G c.2040T>G (p.Leu680=) c.2790T>G (p.Leu930=) c.2796T>G (p.Leu932=) | |
| 8 | g.115418336A>G | CA462631394 | TRPS1 | c.2817T>C (p.Leu939=) c.2778T>C (p.Leu926=) c.151T>C c.2040T>C (p.Leu680=) c.2790T>C (p.Leu930=) c.2796T>C (p.Leu932=) | COSMIC COSMIC |
| 8 | g.115418336A>T | CA462631395 | TRPS1 | c.2817T>A (p.Leu939=) c.2778T>A (p.Leu926=) c.151T>A c.2040T>A (p.Leu680=) c.2790T>A (p.Leu930=) c.2796T>A (p.Leu932=) | |
| 8 | g.115418337A>C | CA372064176 | TRPS1 | c.2816T>G (p.Leu939Arg) c.2777T>G (p.Leu926Arg) c.150T>G c.2039T>G (p.Leu680Arg) c.2789T>G (p.Leu930Arg) c.2795T>G (p.Leu932Arg) | |
| 8 | g.115418337A>G | CA372064177 | TRPS1 | c.2816T>C (p.Leu939Pro) c.2777T>C (p.Leu926Pro) c.150T>C c.2039T>C (p.Leu680Pro) c.2789T>C (p.Leu930Pro) c.2795T>C (p.Leu932Pro) | |
| 8 | g.115418337A>T | CA372064178 | TRPS1 | c.2816T>A (p.Leu939His) c.2777T>A (p.Leu926His) c.150T>A c.2039T>A (p.Leu680His) c.2789T>A (p.Leu930His) c.2795T>A (p.Leu932His) | |
| 8 | g.115418338G>A | CA372064179 | TRPS1 | c.2815C>T (p.Leu939Phe) c.2776C>T (p.Leu926Phe) c.149C>T c.2038C>T (p.Leu680Phe) c.2788C>T (p.Leu930Phe) c.2794C>T (p.Leu932Phe) | |
| 8 | g.115418338G>C | CA372064180 | TRPS1 | c.2815C>G (p.Leu939Val) c.2776C>G (p.Leu926Val) c.149C>G c.2038C>G (p.Leu680Val) c.2788C>G (p.Leu930Val) c.2794C>G (p.Leu932Val) | |
| 8 | g.115418338G>T | CA372064181 | TRPS1 | c.2815C>A (p.Leu939Ile) c.2776C>A (p.Leu926Ile) c.149C>A c.2038C>A (p.Leu680Ile) c.2788C>A (p.Leu930Ile) c.2794C>A (p.Leu932Ile) | |
| 8 | g.115418339C>A | CA372064182 | TRPS1 | c.2814G>T (p.Lys938Asn) c.2775G>T (p.Lys925Asn) c.148G>T c.2037G>T (p.Lys679Asn) c.2787G>T (p.Lys929Asn) c.2793G>T (p.Lys931Asn) | |
| 8 | g.115418339C>G | CA372064183 | TRPS1 | c.2814G>C (p.Lys938Asn) c.2775G>C (p.Lys925Asn) c.148G>C c.2037G>C (p.Lys679Asn) c.2787G>C (p.Lys929Asn) c.2793G>C (p.Lys931Asn) | |
| 8 | g.115418339C>T | CA462631396 | TRPS1 | c.2814G>A (p.Lys938=) c.2775G>A (p.Lys925=) c.148G>A c.2037G>A (p.Lys679=) c.2787G>A (p.Lys929=) c.2793G>A (p.Lys931=) | |
| 8 | g.115418340T>A | CA372064185 | TRPS1 | c.2813A>T (p.Lys938Met) c.2774A>T (p.Lys925Met) c.147A>T c.2036A>T (p.Lys679Met) c.2786A>T (p.Lys929Met) c.2792A>T (p.Lys931Met) | |
| 8 | g.115418340T>C | CA372064186 | TRPS1 | c.2813A>G (p.Lys938Arg) c.2774A>G (p.Lys925Arg) c.147A>G c.2036A>G (p.Lys679Arg) c.2786A>G (p.Lys929Arg) c.2792A>G (p.Lys931Arg) | |
| 8 | g.115418340T>G | CA372064184 | TRPS1 | c.2813A>C (p.Lys938Thr) c.2774A>C (p.Lys925Thr) c.147A>C c.2036A>C (p.Lys679Thr) c.2786A>C (p.Lys929Thr) c.2792A>C (p.Lys931Thr) | |
| 8 | g.115418341T>A | CA372064187 | TRPS1 | c.2812A>T (p.Lys938Ter) c.2773A>T (p.Lys925Ter) c.146A>T c.2035A>T (p.Lys679Ter) c.2785A>T (p.Lys929Ter) c.2791A>T (p.Lys931Ter) | |
| 8 | g.115418341T>C | CA372064188 | TRPS1 | c.2812A>G (p.Lys938Glu) c.2773A>G (p.Lys925Glu) c.146A>G c.2035A>G (p.Lys679Glu) c.2785A>G (p.Lys929Glu) c.2791A>G (p.Lys931Glu) | |
| 8 | g.115418341T>G | CA372064189 | TRPS1 | c.2812A>C (p.Lys938Gln) c.2773A>C (p.Lys925Gln) c.146A>C c.2035A>C (p.Lys679Gln) c.2785A>C (p.Lys929Gln) c.2791A>C (p.Lys931Gln) | |
| 8 | g.115418342C>A | CA372064190 | TRPS1 | c.2811G>T (p.Gln937His) c.2772G>T (p.Gln924His) c.145G>T c.2034G>T (p.Gln678His) c.2784G>T (p.Gln928His) c.2790G>T (p.Gln930His) | |
| 8 | g.115418342C>G | CA372064191 | TRPS1 | c.2811G>C (p.Gln937His) c.2772G>C (p.Gln924His) c.145G>C c.2034G>C (p.Gln678His) c.2784G>C (p.Gln928His) c.2790G>C (p.Gln930His) | |
| 8 | g.115418342C>T | CA462631397 | TRPS1 | c.2811G>A (p.Gln937=) c.2772G>A (p.Gln924=) c.145G>A c.2034G>A (p.Gln678=) c.2784G>A (p.Gln928=) c.2790G>A (p.Gln930=) | |
| 8 | g.115418343T>A | CA372064194 | TRPS1 | c.2810A>T (p.Gln937Leu) c.2771A>T (p.Gln924Leu) c.144A>T c.2033A>T (p.Gln678Leu) c.2783A>T (p.Gln928Leu) c.2789A>T (p.Gln930Leu) | |
| 8 | g.115418343T>C | CA372064192 | TRPS1 | c.2810A>G (p.Gln937Arg) c.2771A>G (p.Gln924Arg) c.144A>G c.2033A>G (p.Gln678Arg) c.2783A>G (p.Gln928Arg) c.2789A>G (p.Gln930Arg) | COSMIC COSMIC |
| 8 | g.115418343T>G | CA372064193 | TRPS1 | c.2810A>C (p.Gln937Pro) c.2771A>C (p.Gln924Pro) c.144A>C c.2033A>C (p.Gln678Pro) c.2783A>C (p.Gln928Pro) c.2789A>C (p.Gln930Pro) | |
| 8 | g.115418344G>A | CA372064195 | TRPS1 | c.2809C>T (p.Gln937Ter) c.2770C>T (p.Gln924Ter) c.143C>T c.2032C>T (p.Gln678Ter) c.2782C>T (p.Gln928Ter) c.2788C>T (p.Gln930Ter) | |
| 8 | g.115418344G>C | CA372064196 | TRPS1 | c.2809C>G (p.Gln937Glu) c.2770C>G (p.Gln924Glu) c.143C>G c.2032C>G (p.Gln678Glu) c.2782C>G (p.Gln928Glu) c.2788C>G (p.Gln930Glu) | |
| 8 | g.115418344G>T | CA372064197 | TRPS1 | c.2809C>A (p.Gln937Lys) c.2770C>A (p.Gln924Lys) c.143C>A c.2032C>A (p.Gln678Lys) c.2782C>A (p.Gln928Lys) c.2788C>A (p.Gln930Lys) | |
| 8 | g.115418345G>A | CA462631398 | TRPS1 | c.2808C>T (p.Tyr936=) c.2769C>T (p.Tyr923=) c.142C>T c.2031C>T (p.Tyr677=) c.2781C>T (p.Tyr927=) c.2787C>T (p.Tyr929=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115418345G>C | CA372064198 | TRPS1 | c.2808C>G (p.Tyr936Ter) c.2769C>G (p.Tyr923Ter) c.142C>G c.2031C>G (p.Tyr677Ter) c.2781C>G (p.Tyr927Ter) c.2787C>G (p.Tyr929Ter) | ClinVar |
| 8 | g.115418345G= | CA1812857384 | TRPS1 | c.2808C= (p.Tyr936=) c.2769C= (p.Tyr923=) c.142C= c.2031C= (p.Tyr677=) c.2781C= (p.Tyr927=) c.2787C= (p.Tyr929=) | |
| 8 | g.115418345G>T | CA372064199 | TRPS1 | c.2808C>A (p.Tyr936Ter) c.2769C>A (p.Tyr923Ter) c.142C>A c.2031C>A (p.Tyr677Ter) c.2781C>A (p.Tyr927Ter) c.2787C>A (p.Tyr929Ter) | |
| 8 | g.115418346T>A | CA372064200 | TRPS1 | c.2807A>T (p.Tyr936Phe) c.2768A>T (p.Tyr923Phe) c.141A>T c.2030A>T (p.Tyr677Phe) c.2780A>T (p.Tyr927Phe) c.2786A>T (p.Tyr929Phe) | |
| 8 | g.115418346T>C | CA372064202 | TRPS1 | c.2807A>G (p.Tyr936Cys) c.2768A>G (p.Tyr923Cys) c.141A>G c.2030A>G (p.Tyr677Cys) c.2780A>G (p.Tyr927Cys) c.2786A>G (p.Tyr929Cys) | |
| 8 | g.115418346T>G | CA372064201 | TRPS1 | c.2807A>C (p.Tyr936Ser) c.2768A>C (p.Tyr923Ser) c.141A>C c.2030A>C (p.Tyr677Ser) c.2780A>C (p.Tyr927Ser) c.2786A>C (p.Tyr929Ser) | |
| 8 | g.115418347A>C | CA372064203 | TRPS1 | c.2806T>G (p.Tyr936Asp) c.2767T>G (p.Tyr923Asp) c.140T>G c.2029T>G (p.Tyr677Asp) c.2779T>G (p.Tyr927Asp) c.2785T>G (p.Tyr929Asp) | |
| 8 | g.115418347A>G | CA372064204 | TRPS1 | c.2806T>C (p.Tyr936His) c.2767T>C (p.Tyr923His) c.140T>C c.2029T>C (p.Tyr677His) c.2779T>C (p.Tyr927His) c.2785T>C (p.Tyr929His) | |
| 8 | g.115418347A>T | CA372064205 | TRPS1 | c.2806T>A (p.Tyr936Asn) c.2767T>A (p.Tyr923Asn) c.140T>A c.2029T>A (p.Tyr677Asn) c.2779T>A (p.Tyr927Asn) c.2785T>A (p.Tyr929Asn) | |
| 8 | g.115418348G>A | CA462631399 | TRPS1 | c.2805C>T (p.Leu935=) c.2766C>T (p.Leu922=) c.139C>T c.2028C>T (p.Leu676=) c.2778C>T (p.Leu926=) c.2784C>T (p.Leu928=) | |
| 8 | g.115418348G>C | CA462631400 | TRPS1 | c.2805C>G (p.Leu935=) c.2766C>G (p.Leu922=) c.139C>G c.2028C>G (p.Leu676=) c.2778C>G (p.Leu926=) c.2784C>G (p.Leu928=) | dbSNP gnomAD v4 |
| 8 | g.115418348G>T | CA462631401 | TRPS1 | c.2805C>A (p.Leu935=) c.2766C>A (p.Leu922=) c.139C>A c.2028C>A (p.Leu676=) c.2778C>A (p.Leu926=) c.2784C>A (p.Leu928=) | |
| 8 | g.115418349A>C | CA372064206 | TRPS1 | c.2804T>G (p.Leu935Arg) c.2765T>G (p.Leu922Arg) c.138T>G c.2027T>G (p.Leu676Arg) c.2777T>G (p.Leu926Arg) c.2783T>G (p.Leu928Arg) | |
| 8 | g.115418349A>G | CA372064207 | TRPS1 | c.2804T>C (p.Leu935Pro) c.2765T>C (p.Leu922Pro) c.138T>C c.2027T>C (p.Leu676Pro) c.2777T>C (p.Leu926Pro) c.2783T>C (p.Leu928Pro) | |
| 8 | g.115418349A>T | CA372064208 | TRPS1 | c.2804T>A (p.Leu935His) c.2765T>A (p.Leu922His) c.138T>A c.2027T>A (p.Leu676His) c.2777T>A (p.Leu926His) c.2783T>A (p.Leu928His) | COSMIC COSMIC |
| 8 | g.115418350G>A | CA372064209 | TRPS1 | c.2803C>T (p.Leu935Phe) c.2764C>T (p.Leu922Phe) c.137C>T c.2026C>T (p.Leu676Phe) c.2776C>T (p.Leu926Phe) c.2782C>T (p.Leu928Phe) | ClinVar dbSNP |
| 8 | g.115418350G>C | CA372064210 | TRPS1 | c.2803C>G (p.Leu935Val) c.2764C>G (p.Leu922Val) c.137C>G c.2026C>G (p.Leu676Val) c.2776C>G (p.Leu926Val) c.2782C>G (p.Leu928Val) | |
| 8 | g.115418350G= | CA1812857388 | TRPS1 | c.2803C= (p.Leu935=) c.2764C= (p.Leu922=) c.137C= c.2026C= (p.Leu676=) c.2776C= (p.Leu926=) c.2782C= (p.Leu928=) | |
| 8 | g.115418350G>T | CA372064211 | TRPS1 | c.2803C>A (p.Leu935Ile) c.2764C>A (p.Leu922Ile) c.137C>A c.2026C>A (p.Leu676Ile) c.2776C>A (p.Leu926Ile) c.2782C>A (p.Leu928Ile) | |
| 8 | g.115418351G>A | CA462631402 | TRPS1 | c.2802C>T (p.Gly934=) c.2763C>T (p.Gly921=) c.136C>T c.2025C>T (p.Gly675=) c.2775C>T (p.Gly925=) c.2781C>T (p.Gly927=) | |
| 8 | g.115418351G>C | CA462631403 | TRPS1 | c.2802C>G (p.Gly934=) c.2763C>G (p.Gly921=) c.136C>G c.2025C>G (p.Gly675=) c.2775C>G (p.Gly925=) c.2781C>G (p.Gly927=) | |
| 8 | g.115418351G>T | CA462631404 | TRPS1 | c.2802C>A (p.Gly934=) c.2763C>A (p.Gly921=) c.136C>A c.2025C>A (p.Gly675=) c.2775C>A (p.Gly925=) c.2781C>A (p.Gly927=) | |
| 8 | g.115418352C>A | CA372064212 | TRPS1 | c.2801G>T (p.Gly934Val) c.2762G>T (p.Gly921Val) c.135G>T c.2024G>T (p.Gly675Val) c.2774G>T (p.Gly925Val) c.2780G>T (p.Gly927Val) | ClinVar dbSNP |
| 8 | g.115418352C= | CA1812857395 | TRPS1 | c.2801G= (p.Gly934=) c.2762G= (p.Gly921=) c.135G= c.2024G= (p.Gly675=) c.2774G= (p.Gly925=) c.2780G= (p.Gly927=) | |
| 8 | g.115418352C>G | CA372064213 | TRPS1 | c.2801G>C (p.Gly934Ala) c.2762G>C (p.Gly921Ala) c.135G>C c.2024G>C (p.Gly675Ala) c.2774G>C (p.Gly925Ala) c.2780G>C (p.Gly927Ala) | |
| 8 | g.115418352C>T | CA372064214 | TRPS1 | c.2801G>A (p.Gly934Asp) c.2762G>A (p.Gly921Asp) c.135G>A c.2024G>A (p.Gly675Asp) c.2774G>A (p.Gly925Asp) c.2780G>A (p.Gly927Asp) | |
| 8 | g.115418353C>A | CA372064216 | TRPS1 | c.2800G>T (p.Gly934Cys) c.2761G>T (p.Gly921Cys) c.134G>T c.2023G>T (p.Gly675Cys) c.2773G>T (p.Gly925Cys) c.2779G>T (p.Gly927Cys) | |
| 8 | g.115418353C>G | CA372064217 | TRPS1 | c.2800G>C (p.Gly934Arg) c.2761G>C (p.Gly921Arg) c.134G>C c.2023G>C (p.Gly675Arg) c.2773G>C (p.Gly925Arg) c.2779G>C (p.Gly927Arg) | |
| 8 | g.115418353C>T | CA372064215 | TRPS1 | c.2800G>A (p.Gly934Ser) c.2761G>A (p.Gly921Ser) c.134G>A c.2023G>A (p.Gly675Ser) c.2773G>A (p.Gly925Ser) c.2779G>A (p.Gly927Ser) | |
| 8 | g.115418354A>C | CA372064219 | TRPS1 | c.2799T>G (p.Cys933Trp) c.2760T>G (p.Cys920Trp) c.133T>G c.2022T>G (p.Cys674Trp) c.2772T>G (p.Cys924Trp) c.2778T>G (p.Cys926Trp) | |
| 8 | g.115418354A>G | CA462631405 | TRPS1 | c.2799T>C (p.Cys933=) c.2760T>C (p.Cys920=) c.133T>C c.2022T>C (p.Cys674=) c.2772T>C (p.Cys924=) c.2778T>C (p.Cys926=) | |
| 8 | g.115418354A>T | CA372064218 | TRPS1 | c.2799T>A (p.Cys933Ter) c.2760T>A (p.Cys920Ter) c.133T>A c.2022T>A (p.Cys674Ter) c.2772T>A (p.Cys924Ter) c.2778T>A (p.Cys926Ter) | |
| 8 | g.115418355C>A | CA372064220 | TRPS1 | c.2798G>T (p.Cys933Phe) c.2759G>T (p.Cys920Phe) c.132G>T c.2021G>T (p.Cys674Phe) c.2771G>T (p.Cys924Phe) c.2777G>T (p.Cys926Phe) | |
| 8 | g.115418355C= | CA1812857400 | TRPS1 | c.2798G= (p.Cys933=) c.2759G= (p.Cys920=) c.132G= c.2021G= (p.Cys674=) c.2771G= (p.Cys924=) c.2777G= (p.Cys926=) | |
| 8 | g.115418355C>G | CA372064221 | TRPS1 | c.2798G>C (p.Cys933Ser) c.2759G>C (p.Cys920Ser) c.132G>C c.2021G>C (p.Cys674Ser) c.2771G>C (p.Cys924Ser) c.2777G>C (p.Cys926Ser) | |
| 8 | g.115418355C>T | CA372064222 | TRPS1 | c.2798G>A (p.Cys933Tyr) c.2759G>A (p.Cys920Tyr) c.132G>A c.2021G>A (p.Cys674Tyr) c.2771G>A (p.Cys924Tyr) c.2777G>A (p.Cys926Tyr) | ClinVar dbSNP |
| 8 | g.115418356A>C | CA372064223 | TRPS1 | c.2797T>G (p.Cys933Gly) c.2758T>G (p.Cys920Gly) c.131T>G c.2020T>G (p.Cys674Gly) c.2770T>G (p.Cys924Gly) c.2776T>G (p.Cys926Gly) | |
| 8 | g.115418356A>G | CA372064224 | TRPS1 | c.2797T>C (p.Cys933Arg) c.2758T>C (p.Cys920Arg) c.131T>C c.2020T>C (p.Cys674Arg) c.2770T>C (p.Cys924Arg) c.2776T>C (p.Cys926Arg) | ClinVar dbSNP |
| 8 | g.115418356A>T | CA372064225 | TRPS1 | c.2797T>A (p.Cys933Ser) c.2758T>A (p.Cys920Ser) c.131T>A c.2020T>A (p.Cys674Ser) c.2770T>A (p.Cys924Ser) c.2776T>A (p.Cys926Ser) | |
| 8 | g.115418357C>A | CA462631406 | TRPS1 | c.2796G>T (p.Ala932=) c.2757G>T (p.Ala919=) c.130G>T c.2019G>T (p.Ala673=) c.2769G>T (p.Ala923=) c.2775G>T (p.Ala925=) | |
| 8 | g.115418357C= | CA1812857409 | TRPS1 | c.2796G= (p.Ala932=) c.2757G= (p.Ala919=) c.130G= c.2019G= (p.Ala673=) c.2769G= (p.Ala923=) c.2775G= (p.Ala925=) | |
| 8 | g.115418357C>G | CA462631407 | TRPS1 | c.2796G>C (p.Ala932=) c.2757G>C (p.Ala919=) c.130G>C c.2019G>C (p.Ala673=) c.2769G>C (p.Ala923=) c.2775G>C (p.Ala925=) | |
| 8 | g.115418357C>T | CA4851576 | TRPS1 | c.2796G>A (p.Ala932=) c.2757G>A (p.Ala919=) c.130G>A c.2019G>A (p.Ala673=) c.2769G>A (p.Ala923=) c.2775G>A (p.Ala925=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115418358G>A | CA117616 | TRPS1 | c.2795C>T (p.Ala932Val) c.2756C>T (p.Ala919Val) c.129C>T c.2018C>T (p.Ala673Val) c.2768C>T (p.Ala923Val) c.2774C>T (p.Ala925Val) | ClinVar dbSNP COSMIC COSMIC |
| 8 | g.115418358G>C | CA372064226 | TRPS1 | c.2795C>G (p.Ala932Gly) c.2756C>G (p.Ala919Gly) c.129C>G c.2018C>G (p.Ala673Gly) c.2768C>G (p.Ala923Gly) c.2774C>G (p.Ala925Gly) | |
| 8 | g.115418358G= | CA1812857414 | TRPS1 | c.2795C= (p.Ala932=) c.2756C= (p.Ala919=) c.129C= c.2018C= (p.Ala673=) c.2768C= (p.Ala923=) c.2774C= (p.Ala925=) | |
| 8 | g.115418358G>T | CA372064227 | TRPS1 | c.2795C>A (p.Ala932Glu) c.2756C>A (p.Ala919Glu) c.129C>A c.2018C>A (p.Ala673Glu) c.2768C>A (p.Ala923Glu) c.2774C>A (p.Ala925Glu) | |
| 8 | g.115418359C>A | CA372064228 | TRPS1 | c.2794G>T (p.Ala932Ser) c.2755G>T (p.Ala919Ser) c.128G>T c.2017G>T (p.Ala673Ser) c.2767G>T (p.Ala923Ser) c.2773G>T (p.Ala925Ser) | |
| 8 | g.115418359C= | CA1812857417 | TRPS1 | c.2794G= (p.Ala932=) c.2755G= (p.Ala919=) c.128G= c.2017G= (p.Ala673=) c.2767G= (p.Ala923=) c.2773G= (p.Ala925=) | |
| 8 | g.115418359C>G | CA372064229 | TRPS1 | c.2794G>C (p.Ala932Pro) c.2755G>C (p.Ala919Pro) c.128G>C c.2017G>C (p.Ala673Pro) c.2767G>C (p.Ala923Pro) c.2773G>C (p.Ala925Pro) | |
| 8 | g.115418359C>T | CA16043431 | TRPS1 | c.2794G>A (p.Ala932Thr) c.2755G>A (p.Ala919Thr) c.128G>A c.2017G>A (p.Ala673Thr) c.2767G>A (p.Ala923Thr) c.2773G>A (p.Ala925Thr) | ClinVar dbSNP |
| 8 | g.115418360G>A | CA4851577 | TRPS1 | c.2793C>T (p.Asn931=) c.2754C>T (p.Asn918=) c.127C>T c.2016C>T (p.Asn672=) c.2766C>T (p.Asn922=) c.2772C>T (p.Asn924=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115418360G>C | CA372064231 | TRPS1 | c.2793C>G (p.Asn931Lys) c.2754C>G (p.Asn918Lys) c.127C>G c.2016C>G (p.Asn672Lys) c.2766C>G (p.Asn922Lys) c.2772C>G (p.Asn924Lys) | |
| 8 | g.115418360G= | CA1812857421 | TRPS1 | c.2793C= (p.Asn931=) c.2754C= (p.Asn918=) c.127C= c.2016C= (p.Asn672=) c.2766C= (p.Asn922=) c.2772C= (p.Asn924=) | |
| 8 | g.115418360G>T | CA372064230 | TRPS1 | c.2793C>A (p.Asn931Lys) c.2754C>A (p.Asn918Lys) c.127C>A c.2016C>A (p.Asn672Lys) c.2766C>A (p.Asn922Lys) c.2772C>A (p.Asn924Lys) | |
| 8 | g.115418361T>A | CA372064232 | TRPS1 | c.2792A>T (p.Asn931Ile) c.2753A>T (p.Asn918Ile) c.126A>T c.2015A>T (p.Asn672Ile) c.2765A>T (p.Asn922Ile) c.2771A>T (p.Asn924Ile) | ClinVar |
| 8 | g.115418361T>C | CA372064233 | TRPS1 | c.2792A>G (p.Asn931Ser) c.2753A>G (p.Asn918Ser) c.126A>G c.2015A>G (p.Asn672Ser) c.2765A>G (p.Asn922Ser) c.2771A>G (p.Asn924Ser) | COSMIC COSMIC |
| 8 | g.115418361T>G | CA372064234 | TRPS1 | c.2792A>C (p.Asn931Thr) c.2753A>C (p.Asn918Thr) c.126A>C c.2015A>C (p.Asn672Thr) c.2765A>C (p.Asn922Thr) c.2771A>C (p.Asn924Thr) | |
| 8 | g.115418362T>A | CA372064235 | TRPS1 | c.2791A>T (p.Asn931Tyr) c.2752A>T (p.Asn918Tyr) c.125A>T c.2014A>T (p.Asn672Tyr) c.2764A>T (p.Asn922Tyr) c.2770A>T (p.Asn924Tyr) | |
| 8 | g.115418362T>C | CA372064236 | TRPS1 | c.2791A>G (p.Asn931Asp) c.2752A>G (p.Asn918Asp) c.125A>G c.2014A>G (p.Asn672Asp) c.2764A>G (p.Asn922Asp) c.2770A>G (p.Asn924Asp) | |
| 8 | g.115418362T>G | CA372064237 | TRPS1 | c.2791A>C (p.Asn931His) c.2752A>C (p.Asn918His) c.125A>C c.2014A>C (p.Asn672His) c.2764A>C (p.Asn922His) c.2770A>C (p.Asn924His) | |
| 8 | g.115418363G>A | CA462631410 | TRPS1 | c.2790C>T (p.Cys930=) c.2751C>T (p.Cys917=) c.124C>T c.2013C>T (p.Cys671=) c.2763C>T (p.Cys921=) c.2769C>T (p.Cys923=) | |
| 8 | g.115418363G>C | CA372064238 | TRPS1 | c.2790C>G (p.Cys930Trp) c.2751C>G (p.Cys917Trp) c.124C>G c.2013C>G (p.Cys671Trp) c.2763C>G (p.Cys921Trp) c.2769C>G (p.Cys923Trp) | |
| 8 | g.115418363G>T | CA372064239 | TRPS1 | c.2790C>A (p.Cys930Ter) c.2751C>A (p.Cys917Ter) c.124C>A c.2013C>A (p.Cys671Ter) c.2763C>A (p.Cys921Ter) c.2769C>A (p.Cys923Ter) | |
| 8 | g.115418364C>A | CA372064240 | TRPS1 | c.2789G>T (p.Cys930Phe) c.2750G>T (p.Cys917Phe) c.123G>T c.2012G>T (p.Cys671Phe) c.2762G>T (p.Cys921Phe) c.2768G>T (p.Cys923Phe) | |
| 8 | g.115418364C>G | CA372064241 | TRPS1 | c.2789G>C (p.Cys930Ser) c.2750G>C (p.Cys917Ser) c.123G>C c.2012G>C (p.Cys671Ser) c.2762G>C (p.Cys921Ser) c.2768G>C (p.Cys923Ser) | |
| 8 | g.115418364C>T | CA372064242 | TRPS1 | c.2789G>A (p.Cys930Tyr) c.2750G>A (p.Cys917Tyr) c.123G>A c.2012G>A (p.Cys671Tyr) c.2762G>A (p.Cys921Tyr) c.2768G>A (p.Cys923Tyr) | COSMIC COSMIC |
| 8 | g.115418365A= | CA1812857431 | TRPS1 | c.2788T= (p.Cys930=) c.2749T= (p.Cys917=) c.122T= c.2011T= (p.Cys671=) c.2761T= (p.Cys921=) c.2767T= (p.Cys923=) | |
| 8 | g.115418365A>C | CA372064245 | TRPS1 | c.2788T>G (p.Cys930Gly) c.2749T>G (p.Cys917Gly) c.122T>G c.2011T>G (p.Cys671Gly) c.2761T>G (p.Cys921Gly) c.2767T>G (p.Cys923Gly) | ClinVar dbSNP |
| 8 | g.115418365A>G | CA372064244 | TRPS1 | c.2788T>C (p.Cys930Arg) c.2749T>C (p.Cys917Arg) c.122T>C c.2011T>C (p.Cys671Arg) c.2761T>C (p.Cys921Arg) c.2767T>C (p.Cys923Arg) | ClinVar dbSNP |
| 8 | g.115418365A>T | CA372064243 | TRPS1 | c.2788T>A (p.Cys930Ser) c.2749T>A (p.Cys917Ser) c.122T>A c.2011T>A (p.Cys671Ser) c.2761T>A (p.Cys921Ser) c.2767T>A (p.Cys923Ser) | |
| 8 | g.115418366T>A | CA462631411 | TRPS1 | c.2787A>T (p.Val929=) c.2748A>T (p.Val916=) c.121A>T c.2010A>T (p.Val670=) c.2760A>T (p.Val920=) c.2766A>T (p.Val922=) | |
| 8 | g.115418366T>C | CA184471346 | TRPS1 | c.2787A>G (p.Val929=) c.2748A>G (p.Val916=) c.121A>G c.2010A>G (p.Val670=) c.2760A>G (p.Val920=) c.2766A>G (p.Val922=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115418366T>G | CA462631412 | TRPS1 | c.2787A>C (p.Val929=) c.2748A>C (p.Val916=) c.121A>C c.2010A>C (p.Val670=) c.2760A>C (p.Val920=) c.2766A>C (p.Val922=) | |
| 8 | g.115418366T= | CA1812857438 | TRPS1 | c.2787A= (p.Val929=) c.2748A= (p.Val916=) c.121A= c.2010A= (p.Val670=) c.2760A= (p.Val920=) c.2766A= (p.Val922=) | |
| 8 | g.115418367A>C | CA372064246 | TRPS1 | c.2786T>G (p.Val929Gly) c.2747T>G (p.Val916Gly) c.120T>G c.2009T>G (p.Val670Gly) c.2759T>G (p.Val920Gly) c.2765T>G (p.Val922Gly) | ClinVar dbSNP |
| 8 | g.115418367A>G | CA372064247 | TRPS1 | c.2786T>C (p.Val929Ala) c.2747T>C (p.Val916Ala) c.120T>C c.2009T>C (p.Val670Ala) c.2759T>C (p.Val920Ala) c.2765T>C (p.Val922Ala) | |
| 8 | g.115418367A>T | CA372064248 | TRPS1 | c.2786T>A (p.Val929Glu) c.2747T>A (p.Val916Glu) c.120T>A c.2009T>A (p.Val670Glu) c.2759T>A (p.Val920Glu) c.2765T>A (p.Val922Glu) | |
| 8 | g.115418368C>A | CA372064249 | TRPS1 | c.2785G>T (p.Val929Leu) c.2746G>T (p.Val916Leu) c.119G>T c.2008G>T (p.Val670Leu) c.2758G>T (p.Val920Leu) c.2764G>T (p.Val922Leu) | |
| 8 | g.115418368C>G | CA372064250 | TRPS1 | c.2785G>C (p.Val929Leu) c.2746G>C (p.Val916Leu) c.119G>C c.2008G>C (p.Val670Leu) c.2758G>C (p.Val920Leu) c.2764G>C (p.Val922Leu) | |
| 8 | g.115418368C>T | CA372064251 | TRPS1 | c.2785G>A (p.Val929Ile) c.2746G>A (p.Val916Ile) c.119G>A c.2008G>A (p.Val670Ile) c.2758G>A (p.Val920Ile) c.2764G>A (p.Val922Ile) | |
| 8 | g.115418369A= | CA1812857442 | TRPS1 | c.2784T= (p.Tyr928=) c.2745T= (p.Tyr915=) c.118T= c.2007T= (p.Tyr669=) c.2757T= (p.Tyr919=) c.2763T= (p.Tyr921=) | |
| 8 | g.115418369A>C | CA372064252 | TRPS1 | c.2784T>G (p.Tyr928Ter) c.2745T>G (p.Tyr915Ter) c.118T>G c.2007T>G (p.Tyr669Ter) c.2757T>G (p.Tyr919Ter) c.2763T>G (p.Tyr921Ter) | |
| 8 | g.115418369A>G | CA462631413 | TRPS1 | c.2784T>C (p.Tyr928=) c.2745T>C (p.Tyr915=) c.118T>C c.2007T>C (p.Tyr669=) c.2757T>C (p.Tyr919=) c.2763T>C (p.Tyr921=) | gnomAD v4 |
| 8 | g.115418369A>T | CA372064253 | TRPS1 | c.2784T>A (p.Tyr928Ter) c.2745T>A (p.Tyr915Ter) c.118T>A c.2007T>A (p.Tyr669Ter) c.2757T>A (p.Tyr919Ter) c.2763T>A (p.Tyr921Ter) | |
| 8 | g.115418369_115418370insG | CA645509481 | TRPS1 | c.2783_2784insC (p.Val929CysfsTer22) c.2744_2745insC (p.Val916CysfsTer22) c.117_118insC c.2006_2007insC (p.Val670CysfsTer22) c.2756_2757insC (p.Val920CysfsTer22) c.2762_2763insC (p.Val922CysfsTer22) | ClinVar dbSNP |
| 8 | g.115418370T>A | CA372064254 | TRPS1 | c.2783A>T (p.Tyr928Phe) c.2744A>T (p.Tyr915Phe) c.117A>T c.2006A>T (p.Tyr669Phe) c.2756A>T (p.Tyr919Phe) c.2762A>T (p.Tyr921Phe) | |
| 8 | g.115418370T>C | CA372064255 | TRPS1 | c.2783A>G (p.Tyr928Cys) c.2744A>G (p.Tyr915Cys) c.117A>G c.2006A>G (p.Tyr669Cys) c.2756A>G (p.Tyr919Cys) c.2762A>G (p.Tyr921Cys) | |
| 8 | g.115418370T>G | CA372064256 | TRPS1 | c.2783A>C (p.Tyr928Ser) c.2744A>C (p.Tyr915Ser) c.117A>C c.2006A>C (p.Tyr669Ser) c.2756A>C (p.Tyr919Ser) c.2762A>C (p.Tyr921Ser) | |
| 8 | g.115418371A>C | CA372064258 | TRPS1 | c.2782T>G (p.Tyr928Asp) c.2743T>G (p.Tyr915Asp) c.116T>G c.2005T>G (p.Tyr669Asp) c.2755T>G (p.Tyr919Asp) c.2761T>G (p.Tyr921Asp) | |
| 8 | g.115418371A>G | CA372064259 | TRPS1 | c.2782T>C (p.Tyr928His) c.2743T>C (p.Tyr915His) c.116T>C c.2005T>C (p.Tyr669His) c.2755T>C (p.Tyr919His) c.2761T>C (p.Tyr921His) | |
| 8 | g.115418371A>T | CA372064257 | TRPS1 | c.2782T>A (p.Tyr928Asn) c.2743T>A (p.Tyr915Asn) c.116T>A c.2005T>A (p.Tyr669Asn) c.2755T>A (p.Tyr919Asn) c.2761T>A (p.Tyr921Asn) | |
| 8 | g.115418372T>A | CA462631414 | TRPS1 | c.2781A>T (p.Gly927=) c.2742A>T (p.Gly914=) c.115A>T c.2004A>T (p.Gly668=) c.2754A>T (p.Gly918=) c.2760A>T (p.Gly920=) | |
| 8 | g.115418372T>C | CA462631415 | TRPS1 | c.2781A>G (p.Gly927=) c.2742A>G (p.Gly914=) c.115A>G c.2004A>G (p.Gly668=) c.2754A>G (p.Gly918=) c.2760A>G (p.Gly920=) | |
| 8 | g.115418372T>G | CA462631416 | TRPS1 | c.2781A>C (p.Gly927=) c.2742A>C (p.Gly914=) c.115A>C c.2004A>C (p.Gly668=) c.2754A>C (p.Gly918=) c.2760A>C (p.Gly920=) | |
| 8 | g.115418373C>A | CA372064260 | TRPS1 | c.2780G>T (p.Gly927Val) c.2741G>T (p.Gly914Val) c.114G>T c.2003G>T (p.Gly668Val) c.2753G>T (p.Gly918Val) c.2759G>T (p.Gly920Val) | |
| 8 | g.115418373C>G | CA372064261 | TRPS1 | c.2780G>C (p.Gly927Ala) c.2741G>C (p.Gly914Ala) c.114G>C c.2003G>C (p.Gly668Ala) c.2753G>C (p.Gly918Ala) c.2759G>C (p.Gly920Ala) | |
| 8 | g.115418373C>T | CA372064262 | TRPS1 | c.2780G>A (p.Gly927Glu) c.2741G>A (p.Gly914Glu) c.114G>A c.2003G>A (p.Gly668Glu) c.2753G>A (p.Gly918Glu) c.2759G>A (p.Gly920Glu) | |
| 8 | g.115418374C>A | CA372064263 | TRPS1 | c.2779G>T (p.Gly927Ter) c.2740G>T (p.Gly914Ter) c.113G>T c.2002G>T (p.Gly668Ter) c.2752G>T (p.Gly918Ter) c.2758G>T (p.Gly920Ter) | |
| 8 | g.115418374C= | CA1812857453 | TRPS1 | c.2779G= (p.Gly927=) c.2740G= (p.Gly914=) c.113G= c.2002G= (p.Gly668=) c.2752G= (p.Gly918=) c.2758G= (p.Gly920=) | |
| 8 | g.115418374C>G | CA372064264 | TRPS1 | c.2779G>C (p.Gly927Arg) c.2740G>C (p.Gly914Arg) c.113G>C c.2002G>C (p.Gly668Arg) c.2752G>C (p.Gly918Arg) c.2758G>C (p.Gly920Arg) | COSMIC COSMIC |
| 8 | g.115418374C>T | CA372064265 | TRPS1 | c.2779G>A (p.Gly927Arg) c.2740G>A (p.Gly914Arg) c.113G>A c.2002G>A (p.Gly668Arg) c.2752G>A (p.Gly918Arg) c.2758G>A (p.Gly920Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.115418375G>A | CA4851579 | TRPS1 | c.2778C>T (p.Gly926=) c.2739C>T (p.Gly913=) c.112C>T c.2001C>T (p.Gly667=) c.2751C>T (p.Gly917=) c.2757C>T (p.Gly919=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115418375G>C | CA462631417 | TRPS1 | c.2778C>G (p.Gly926=) c.2739C>G (p.Gly913=) c.112C>G c.2001C>G (p.Gly667=) c.2751C>G (p.Gly917=) c.2757C>G (p.Gly919=) | |
| 8 | g.115418375G= | CA1812857459 | TRPS1 | c.2778C= (p.Gly926=) c.2739C= (p.Gly913=) c.112C= c.2001C= (p.Gly667=) c.2751C= (p.Gly917=) c.2757C= (p.Gly919=) | |
| 8 | g.115418375G>T | CA4851578 | TRPS1 | c.2778C>A (p.Gly926=) c.2739C>A (p.Gly913=) c.112C>A c.2001C>A (p.Gly667=) c.2751C>A (p.Gly917=) c.2757C>A (p.Gly919=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115418376C>A | CA372064266 | TRPS1 | c.2777G>T (p.Gly926Val) c.2738G>T (p.Gly913Val) c.111G>T c.2000G>T (p.Gly667Val) c.2750G>T (p.Gly917Val) c.2756G>T (p.Gly919Val) | |
| 8 | g.115418376C>G | CA372064267 | TRPS1 | c.2777G>C (p.Gly926Ala) c.2738G>C (p.Gly913Ala) c.111G>C c.2000G>C (p.Gly667Ala) c.2750G>C (p.Gly917Ala) c.2756G>C (p.Gly919Ala) | |
| 8 | g.115418376C>T | CA372064268 | TRPS1 | c.2777G>A (p.Gly926Asp) c.2738G>A (p.Gly913Asp) c.111G>A c.2000G>A (p.Gly667Asp) c.2750G>A (p.Gly917Asp) c.2756G>A (p.Gly919Asp) | |
| 8 | g.115418377C>A | CA372064269 | TRPS1 | c.2776G>T (p.Gly926Cys) c.2737G>T (p.Gly913Cys) c.110G>T c.1999G>T (p.Gly667Cys) c.2749G>T (p.Gly917Cys) c.2755G>T (p.Gly919Cys) | |
| 8 | g.115418377C>G | CA372064270 | TRPS1 | c.2776G>C (p.Gly926Arg) c.2737G>C (p.Gly913Arg) c.110G>C c.1999G>C (p.Gly667Arg) c.2749G>C (p.Gly917Arg) c.2755G>C (p.Gly919Arg) | COSMIC COSMIC |
| 8 | g.115418377C>T | CA372064271 | TRPS1 | c.2776G>A (p.Gly926Ser) c.2737G>A (p.Gly913Ser) c.110G>A c.1999G>A (p.Gly667Ser) c.2749G>A (p.Gly917Ser) c.2755G>A (p.Gly919Ser) | |
| 8 | g.115418378A>C | CA372064272 | TRPS1 | c.2775T>G (p.Asn925Lys) c.2736T>G (p.Asn912Lys) c.109T>G c.1998T>G (p.Asn666Lys) c.2748T>G (p.Asn916Lys) c.2754T>G (p.Asn918Lys) | |
| 8 | g.115418378A>G | CA462631419 | TRPS1 | c.2775T>C (p.Asn925=) c.2736T>C (p.Asn912=) c.109T>C c.1998T>C (p.Asn666=) c.2748T>C (p.Asn916=) c.2754T>C (p.Asn918=) | |
| 8 | g.115418378A>T | CA372064273 | TRPS1 | c.2775T>A (p.Asn925Lys) c.2736T>A (p.Asn912Lys) c.109T>A c.1998T>A (p.Asn666Lys) c.2748T>A (p.Asn916Lys) c.2754T>A (p.Asn918Lys) | |
| 8 | g.115418379T>A | CA372064274 | TRPS1 | c.2774A>T (p.Asn925Ile) c.2735A>T (p.Asn912Ile) c.108A>T c.1997A>T (p.Asn666Ile) c.2747A>T (p.Asn916Ile) c.2753A>T (p.Asn918Ile) | |
| 8 | g.115418379T>C | CA372064276 | TRPS1 | c.2774A>G (p.Asn925Ser) c.2735A>G (p.Asn912Ser) c.108A>G c.1997A>G (p.Asn666Ser) c.2747A>G (p.Asn916Ser) c.2753A>G (p.Asn918Ser) | |
| 8 | g.115418379T>G | CA372064275 | TRPS1 | c.2774A>C (p.Asn925Thr) c.2735A>C (p.Asn912Thr) c.108A>C c.1997A>C (p.Asn666Thr) c.2747A>C (p.Asn916Thr) c.2753A>C (p.Asn918Thr) | |
| 8 | g.115418380T>A | CA372064277 | TRPS1 | c.2773A>T (p.Asn925Tyr) c.2734A>T (p.Asn912Tyr) c.107A>T c.1996A>T (p.Asn666Tyr) c.2746A>T (p.Asn916Tyr) c.2752A>T (p.Asn918Tyr) | |
| 8 | g.115418380T>C | CA372064279 | TRPS1 | c.2773A>G (p.Asn925Asp) c.2734A>G (p.Asn912Asp) c.107A>G c.1996A>G (p.Asn666Asp) c.2746A>G (p.Asn916Asp) c.2752A>G (p.Asn918Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115418380T>G | CA372064278 | TRPS1 | c.2773A>C (p.Asn925His) c.2734A>C (p.Asn912His) c.107A>C c.1996A>C (p.Asn666His) c.2746A>C (p.Asn916His) c.2752A>C (p.Asn918His) | |
| 8 | g.115418380T= | CA1812857463 | TRPS1 | c.2773A= (p.Asn925=) c.2734A= (p.Asn912=) c.107A= c.1996A= (p.Asn666=) c.2746A= (p.Asn916=) c.2752A= (p.Asn918=) | |
| 8 | g.115418381T>A | CA462631420 | TRPS1 | c.2772A>T (p.Ala924=) c.2733A>T (p.Ala911=) c.106A>T c.1995A>T (p.Ala665=) c.2745A>T (p.Ala915=) c.2751A>T (p.Ala917=) | gnomAD v4 |
| 8 | g.115418381T>C | CA462631421 | TRPS1 | c.2772A>G (p.Ala924=) c.2733A>G (p.Ala911=) c.106A>G c.1995A>G (p.Ala665=) c.2745A>G (p.Ala915=) c.2751A>G (p.Ala917=) | |
| 8 | g.115418381T>G | CA462631422 | TRPS1 | c.2772A>C (p.Ala924=) c.2733A>C (p.Ala911=) c.106A>C c.1995A>C (p.Ala665=) c.2745A>C (p.Ala915=) c.2751A>C (p.Ala917=) | |
| 8 | g.115418382G>A | CA372064280 | TRPS1 | c.2771C>T (p.Ala924Val) c.2732C>T (p.Ala911Val) c.105C>T c.1994C>T (p.Ala665Val) c.2744C>T (p.Ala915Val) c.2750C>T (p.Ala917Val) | |
| 8 | g.115418382G>C | CA372064282 | TRPS1 | c.2771C>G (p.Ala924Gly) c.2732C>G (p.Ala911Gly) c.105C>G c.1994C>G (p.Ala665Gly) c.2744C>G (p.Ala915Gly) c.2750C>G (p.Ala917Gly) | |
| 8 | g.115418382G>T | CA372064281 | TRPS1 | c.2771C>A (p.Ala924Glu) c.2732C>A (p.Ala911Glu) c.105C>A c.1994C>A (p.Ala665Glu) c.2744C>A (p.Ala915Glu) c.2750C>A (p.Ala917Glu) | |
| 8 | g.115418383C>A | CA372064283 | TRPS1 | c.2770G>T (p.Ala924Ser) c.2731G>T (p.Ala911Ser) c.104G>T c.1993G>T (p.Ala665Ser) c.2743G>T (p.Ala915Ser) c.2749G>T (p.Ala917Ser) | |
| 8 | g.115418383C>G | CA372064284 | TRPS1 | c.2770G>C (p.Ala924Pro) c.2731G>C (p.Ala911Pro) c.104G>C c.1993G>C (p.Ala665Pro) c.2743G>C (p.Ala915Pro) c.2749G>C (p.Ala917Pro) | |
| 8 | g.115418383C>T | CA372064285 | TRPS1 | c.2770G>A (p.Ala924Thr) c.2731G>A (p.Ala911Thr) c.104G>A c.1993G>A (p.Ala665Thr) c.2743G>A (p.Ala915Thr) c.2749G>A (p.Ala917Thr) | |
| 8 | g.115418384A= | CA1812857468 | TRPS1 | c.2769T= (p.Asn923=) c.2730T= (p.Asn910=) c.103T= c.1992T= (p.Asn664=) c.2742T= (p.Asn914=) c.2748T= (p.Asn916=) | |
| 8 | g.115418384A>C | CA372064286 | TRPS1 | c.2769T>G (p.Asn923Lys) c.2730T>G (p.Asn910Lys) c.103T>G c.1992T>G (p.Asn664Lys) c.2742T>G (p.Asn914Lys) c.2748T>G (p.Asn916Lys) | ClinVar dbSNP |
| 8 | g.115418384A>G | CA4851580 | TRPS1 | c.2769T>C (p.Asn923=) c.2730T>C (p.Asn910=) c.103T>C c.1992T>C (p.Asn664=) c.2742T>C (p.Asn914=) c.2748T>C (p.Asn916=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115418384A>T | CA372064287 | TRPS1 | c.2769T>A (p.Asn923Lys) c.2730T>A (p.Asn910Lys) c.103T>A c.1992T>A (p.Asn664Lys) c.2742T>A (p.Asn914Lys) c.2748T>A (p.Asn916Lys) | |
| 8 | g.115418385T>A | CA372064288 | TRPS1 | c.2768A>T (p.Asn923Ile) c.2729A>T (p.Asn910Ile) c.102A>T c.1991A>T (p.Asn664Ile) c.2741A>T (p.Asn914Ile) c.2747A>T (p.Asn916Ile) | |
| 8 | g.115418385T>C | CA372064289 | TRPS1 | c.2768A>G (p.Asn923Ser) c.2729A>G (p.Asn910Ser) c.102A>G c.1991A>G (p.Asn664Ser) c.2741A>G (p.Asn914Ser) c.2747A>G (p.Asn916Ser) | |
| 8 | g.115418385T>G | CA372064290 | TRPS1 | c.2768A>C (p.Asn923Thr) c.2729A>C (p.Asn910Thr) c.102A>C c.1991A>C (p.Asn664Thr) c.2741A>C (p.Asn914Thr) c.2747A>C (p.Asn916Thr) | |
| 8 | g.115418386T>A | CA372064291 | TRPS1 | c.2767A>T (p.Asn923Tyr) c.2728A>T (p.Asn910Tyr) c.101A>T c.1990A>T (p.Asn664Tyr) c.2740A>T (p.Asn914Tyr) c.2746A>T (p.Asn916Tyr) | |
| 8 | g.115418386T>C | CA372064292 | TRPS1 | c.2767A>G (p.Asn923Asp) c.2728A>G (p.Asn910Asp) c.101A>G c.1990A>G (p.Asn664Asp) c.2740A>G (p.Asn914Asp) c.2746A>G (p.Asn916Asp) | |
| 8 | g.115418386T>G | CA372064293 | TRPS1 | c.2767A>C (p.Asn923His) c.2728A>C (p.Asn910His) c.101A>C c.1990A>C (p.Asn664His) c.2740A>C (p.Asn914His) c.2746A>C (p.Asn916His) | |
| 8 | g.115418387C>A | CA372064295 | TRPS1 | c.2766G>T (p.Lys922Asn) c.2727G>T (p.Lys909Asn) c.100G>T c.1989G>T (p.Lys663Asn) c.2739G>T (p.Lys913Asn) c.2745G>T (p.Lys915Asn) | |
| 8 | g.115418387C= | CA1812857476 | TRPS1 | c.2766G= (p.Lys922=) c.2727G= (p.Lys909=) c.100G= c.1989G= (p.Lys663=) c.2739G= (p.Lys913=) c.2745G= (p.Lys915=) | |
| 8 | g.115418387C>G | CA372064294 | TRPS1 | c.2766G>C (p.Lys922Asn) c.2727G>C (p.Lys909Asn) c.100G>C c.1989G>C (p.Lys663Asn) c.2739G>C (p.Lys913Asn) c.2745G>C (p.Lys915Asn) | |
| 8 | g.115418387C>T | CA4851581 | TRPS1 | c.2766G>A (p.Lys922=) c.2727G>A (p.Lys909=) c.100G>A c.1989G>A (p.Lys663=) c.2739G>A (p.Lys913=) c.2745G>A (p.Lys915=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.115418388T>A | CA372064296 | TRPS1 | c.2765A>T (p.Lys922Met) c.2726A>T (p.Lys909Met) c.99A>T c.1988A>T (p.Lys663Met) c.2738A>T (p.Lys913Met) c.2744A>T (p.Lys915Met) | COSMIC COSMIC |
| 8 | g.115418388T>C | CA372064297 | TRPS1 | c.2765A>G (p.Lys922Arg) c.2726A>G (p.Lys909Arg) c.99A>G c.1988A>G (p.Lys663Arg) c.2738A>G (p.Lys913Arg) c.2744A>G (p.Lys915Arg) | COSMIC COSMIC |
| 8 | g.115418388T>G | CA372064298 | TRPS1 | c.2765A>C (p.Lys922Thr) c.2726A>C (p.Lys909Thr) c.99A>C c.1988A>C (p.Lys663Thr) c.2738A>C (p.Lys913Thr) c.2744A>C (p.Lys915Thr) | |
| 8 | g.115418389T>A | CA372064299 | TRPS1 | c.2764A>T (p.Lys922Ter) c.2725A>T (p.Lys909Ter) c.98A>T c.1987A>T (p.Lys663Ter) c.2737A>T (p.Lys913Ter) c.2743A>T (p.Lys915Ter) | |
| 8 | g.115418389T>C | CA372064300 | TRPS1 | c.2764A>G (p.Lys922Glu) c.2725A>G (p.Lys909Glu) c.98A>G c.1987A>G (p.Lys663Glu) c.2737A>G (p.Lys913Glu) c.2743A>G (p.Lys915Glu) | |
| 8 | g.115418389T>G | CA372064301 | TRPS1 | c.2764A>C (p.Lys922Gln) c.2725A>C (p.Lys909Gln) c.98A>C c.1987A>C (p.Lys663Gln) c.2737A>C (p.Lys913Gln) c.2743A>C (p.Lys915Gln) | |
| 8 | g.115418390T>A | CA462631423 | TRPS1 | c.2763A>T (p.Arg921=) c.2724A>T (p.Arg908=) c.97A>T c.1986A>T (p.Arg662=) c.2736A>T (p.Arg912=) c.2742A>T (p.Arg914=) | |
| 8 | g.115418390T>C | CA4851582 | TRPS1 | c.2763A>G (p.Arg921=) c.2724A>G (p.Arg908=) c.97A>G c.1986A>G (p.Arg662=) c.2736A>G (p.Arg912=) c.2742A>G (p.Arg914=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115418390T>G | CA462631424 | TRPS1 | c.2763A>C (p.Arg921=) c.2724A>C (p.Arg908=) c.97A>C c.1986A>C (p.Arg662=) c.2736A>C (p.Arg912=) c.2742A>C (p.Arg914=) | |
| 8 | g.115418390T= | CA1812857484 | TRPS1 | c.2763A= (p.Arg921=) c.2724A= (p.Arg908=) c.97A= c.1986A= (p.Arg662=) c.2736A= (p.Arg912=) c.2742A= (p.Arg914=) | |
| 8 | g.115418391C>A | CA372064302 | TRPS1 | c.2762G>T (p.Arg921Leu) c.2723G>T (p.Arg908Leu) c.96G>T c.1985G>T (p.Arg662Leu) c.2735G>T (p.Arg912Leu) c.2741G>T (p.Arg914Leu) | |
| 8 | g.115418391C= | CA1812857490 | TRPS1 | c.2762G= (p.Arg921=) c.2723G= (p.Arg908=) c.96G= c.1985G= (p.Arg662=) c.2735G= (p.Arg912=) c.2741G= (p.Arg914=) | |
| 8 | g.115418391C>G | CA372064303 | TRPS1 | c.2762G>C (p.Arg921Pro) c.2723G>C (p.Arg908Pro) c.96G>C c.1985G>C (p.Arg662Pro) c.2735G>C (p.Arg912Pro) c.2741G>C (p.Arg914Pro) | ClinVar dbSNP |
| 8 | g.115418391C>T | CA117614 | TRPS1 | c.2762G>A (p.Arg921Gln) c.2723G>A (p.Arg908Gln) c.96G>A c.1985G>A (p.Arg662Gln) c.2735G>A (p.Arg912Gln) c.2741G>A (p.Arg914Gln) | ClinVar dbSNP |
| 8 | g.115418392G>A | CA372064305 | TRPS1 | c.2761C>T (p.Arg921Ter) c.2722C>T (p.Arg908Ter) c.95C>T c.1984C>T (p.Arg662Ter) c.2734C>T (p.Arg912Ter) c.2740C>T (p.Arg914Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 8 | g.115418392G>C | CA372064304 | TRPS1 | c.2761C>G (p.Arg921Gly) c.2722C>G (p.Arg908Gly) c.95C>G c.1984C>G (p.Arg662Gly) c.2734C>G (p.Arg912Gly) c.2740C>G (p.Arg914Gly) | |
| 8 | g.115418392G= | CA1812857496 | TRPS1 | c.2761C= (p.Arg921=) c.2722C= (p.Arg908=) c.95C= c.1984C= (p.Arg662=) c.2734C= (p.Arg912=) c.2740C= (p.Arg914=) | |
| 8 | g.115418392G>T | CA4851583 | TRPS1 | c.2761C>A (p.Arg921=) c.2722C>A (p.Arg908=) c.95C>A c.1984C>A (p.Arg662=) c.2734C>A (p.Arg912=) c.2740C>A (p.Arg914=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115418393C>A | CA372064306 | TRPS1 | c.2760G>T (p.Trp920Cys) c.2721G>T (p.Trp907Cys) c.94G>T c.1983G>T (p.Trp661Cys) c.2733G>T (p.Trp911Cys) c.2739G>T (p.Trp913Cys) | |
| 8 | g.115418393C>G | CA372064307 | TRPS1 | c.2760G>C (p.Trp920Cys) c.2721G>C (p.Trp907Cys) c.94G>C c.1983G>C (p.Trp661Cys) c.2733G>C (p.Trp911Cys) c.2739G>C (p.Trp913Cys) | |
| 8 | g.115418393C>T | CA372064308 | TRPS1 | c.2760G>A (p.Trp920Ter) c.2721G>A (p.Trp907Ter) c.94G>A c.1983G>A (p.Trp661Ter) c.2733G>A (p.Trp911Ter) c.2739G>A (p.Trp913Ter) | |
| 8 | g.115418394C>A | CA372064309 | TRPS1 | c.2759G>T (p.Trp920Leu) c.2720G>T (p.Trp907Leu) c.93G>T c.1982G>T (p.Trp661Leu) c.2732G>T (p.Trp911Leu) c.2738G>T (p.Trp913Leu) | |
| 8 | g.115418394C>G | CA372064310 | TRPS1 | c.2759G>C (p.Trp920Ser) c.2720G>C (p.Trp907Ser) c.93G>C c.1982G>C (p.Trp661Ser) c.2732G>C (p.Trp911Ser) c.2738G>C (p.Trp913Ser) | |
| 8 | g.115418394C>T | CA372064311 | TRPS1 | c.2759G>A (p.Trp920Ter) c.2720G>A (p.Trp907Ter) c.93G>A c.1982G>A (p.Trp661Ter) c.2732G>A (p.Trp911Ter) c.2738G>A (p.Trp913Ter) | |
| 8 | g.115418395A= | CA1812857505 | TRPS1 | c.2758T= (p.Trp920=) c.2719T= (p.Trp907=) c.92T= c.1981T= (p.Trp661=) c.2731T= (p.Trp911=) c.2737T= (p.Trp913=) | |
| 8 | g.115418395A>C | CA372064312 | TRPS1 | c.2758T>G (p.Trp920Gly) c.2719T>G (p.Trp907Gly) c.92T>G c.1981T>G (p.Trp661Gly) c.2731T>G (p.Trp911Gly) c.2737T>G (p.Trp913Gly) | |
| 8 | g.115418395A>G | CA372064313 | TRPS1 | c.2758T>C (p.Trp920Arg) c.2719T>C (p.Trp907Arg) c.92T>C c.1981T>C (p.Trp661Arg) c.2731T>C (p.Trp911Arg) c.2737T>C (p.Trp913Arg) | ClinVar dbSNP |
| 8 | g.115418395A>T | CA372064314 | TRPS1 | c.2758T>A (p.Trp920Arg) c.2719T>A (p.Trp907Arg) c.92T>A c.1981T>A (p.Trp661Arg) c.2731T>A (p.Trp911Arg) c.2737T>A (p.Trp913Arg) | |
| 8 | g.115418401_115418402dup | CA2697550110 | TRPS1 | c.2757_2758dup (p.Trp920SerfsTer28) c.2718_2719dup (p.Trp907SerfsTer28) c.91_92dup c.1980_1981dup (p.Trp661SerfsTer28) c.2730_2731dup (p.Trp911SerfsTer28) c.2736_2737dup (p.Trp913SerfsTer28) | ClinVar |
| 8 | g.115418401_115418402del | CA2579233411 | TRPS1 | c.2757_2758del (p.Trp920AlafsTer?) c.2718_2719del (p.Trp907AlafsTer?) c.91_92del c.1980_1981del (p.Trp661AlafsTer?) c.2730_2731del (p.Trp911AlafsTer?) c.2736_2737del (p.Trp913AlafsTer?) | ClinVar dbSNP |
| 8 | g.115418396G>A | CA462631425 | TRPS1 | c.2757C>T (p.Leu919=) c.2718C>T (p.Leu906=) c.91C>T c.1980C>T (p.Leu660=) c.2730C>T (p.Leu910=) c.2736C>T (p.Leu912=) | |
| 8 | g.115418396G>C | CA462631426 | TRPS1 | c.2757C>G (p.Leu919=) c.2718C>G (p.Leu906=) c.91C>G c.1980C>G (p.Leu660=) c.2730C>G (p.Leu910=) c.2736C>G (p.Leu912=) | dbSNP gnomAD v4 |
| 8 | g.115418396G= | CA1812857512 | TRPS1 | c.2757C= (p.Leu919=) c.2718C= (p.Leu906=) c.91C= c.1980C= (p.Leu660=) c.2730C= (p.Leu910=) c.2736C= (p.Leu912=) | |
| 8 | g.115418396G>T | CA462631427 | TRPS1 | c.2757C>A (p.Leu919=) c.2718C>A (p.Leu906=) c.91C>A c.1980C>A (p.Leu660=) c.2730C>A (p.Leu910=) c.2736C>A (p.Leu912=) | |
| 8 | g.115418397A= | CA1812857520 | TRPS1 | c.2756T= (p.Leu919=) c.2717T= (p.Leu906=) c.90T= c.1979T= (p.Leu660=) c.2729T= (p.Leu910=) c.2735T= (p.Leu912=) | |
| 8 | g.115418397A>C | CA372064315 | TRPS1 | c.2756T>G (p.Leu919Arg) c.2717T>G (p.Leu906Arg) c.90T>G c.1979T>G (p.Leu660Arg) c.2729T>G (p.Leu910Arg) c.2735T>G (p.Leu912Arg) | |
| 8 | g.115418397A>G | CA372064316 | TRPS1 | c.2756T>C (p.Leu919Pro) c.2717T>C (p.Leu906Pro) c.90T>C c.1979T>C (p.Leu660Pro) c.2729T>C (p.Leu910Pro) c.2735T>C (p.Leu912Pro) | ClinVar dbSNP |
| 8 | g.115418397A>T | CA372064317 | TRPS1 | c.2756T>A (p.Leu919His) c.2717T>A (p.Leu906His) c.90T>A c.1979T>A (p.Leu660His) c.2729T>A (p.Leu910His) c.2735T>A (p.Leu912His) | |
| 8 | g.115418398G>A | CA372064320 | TRPS1 | c.2755C>T (p.Leu919Phe) c.2716C>T (p.Leu906Phe) c.89C>T c.1978C>T (p.Leu660Phe) c.2728C>T (p.Leu910Phe) c.2734C>T (p.Leu912Phe) | |
| 8 | g.115418398G>C | CA372064318 | TRPS1 | c.2755C>G (p.Leu919Val) c.2716C>G (p.Leu906Val) c.89C>G c.1978C>G (p.Leu660Val) c.2728C>G (p.Leu910Val) c.2734C>G (p.Leu912Val) | ClinVar dbSNP |
| 8 | g.115418398G= | CA1812857527 | TRPS1 | c.2755C= (p.Leu919=) c.2716C= (p.Leu906=) c.89C= c.1978C= (p.Leu660=) c.2728C= (p.Leu910=) c.2734C= (p.Leu912=) | |
| 8 | g.115418398G>T | CA372064319 | TRPS1 | c.2755C>A (p.Leu919Ile) c.2716C>A (p.Leu906Ile) c.89C>A c.1978C>A (p.Leu660Ile) c.2728C>A (p.Leu910Ile) c.2734C>A (p.Leu912Ile) | |
| 8 | g.115418399A>C | CA462631429 | TRPS1 | c.2754T>G (p.Ser918=) c.2715T>G (p.Ser905=) c.88T>G c.1977T>G (p.Ser659=) c.2727T>G (p.Ser909=) c.2733T>G (p.Ser911=) | |
| 8 | g.115418399A>G | CA462631430 | TRPS1 | c.2754T>C (p.Ser918=) c.2715T>C (p.Ser905=) c.88T>C c.1977T>C (p.Ser659=) c.2727T>C (p.Ser909=) c.2733T>C (p.Ser911=) | |
| 8 | g.115418399A>T | CA462631431 | TRPS1 | c.2754T>A (p.Ser918=) c.2715T>A (p.Ser905=) c.88T>A c.1977T>A (p.Ser659=) c.2727T>A (p.Ser909=) c.2733T>A (p.Ser911=) | |
| 8 | g.115418400G>A | CA372064321 | TRPS1 | c.2753C>T (p.Ser918Phe) c.2714C>T (p.Ser905Phe) c.87C>T c.1976C>T (p.Ser659Phe) c.2726C>T (p.Ser909Phe) c.2732C>T (p.Ser911Phe) | ClinVar |
| 8 | g.115418400G>C | CA372064322 | TRPS1 | c.2753C>G (p.Ser918Cys) c.2714C>G (p.Ser905Cys) c.87C>G c.1976C>G (p.Ser659Cys) c.2726C>G (p.Ser909Cys) c.2732C>G (p.Ser911Cys) | gnomAD v4 |
| 8 | g.115418400G>T | CA372064323 | TRPS1 | c.2753C>A (p.Ser918Tyr) c.2714C>A (p.Ser905Tyr) c.87C>A c.1976C>A (p.Ser659Tyr) c.2726C>A (p.Ser909Tyr) c.2732C>A (p.Ser911Tyr) | |
| 8 | g.115418401A>C | CA372064324 | TRPS1 | c.2752T>G (p.Ser918Ala) c.2713T>G (p.Ser905Ala) c.86T>G c.1975T>G (p.Ser659Ala) c.2725T>G (p.Ser909Ala) c.2731T>G (p.Ser911Ala) | |
| 8 | g.115418401A>G | CA372064325 | TRPS1 | c.2752T>C (p.Ser918Pro) c.2713T>C (p.Ser905Pro) c.86T>C c.1975T>C (p.Ser659Pro) c.2725T>C (p.Ser909Pro) c.2731T>C (p.Ser911Pro) | |
| 8 | g.115418401A>T | CA372064326 | TRPS1 | c.2752T>A (p.Ser918Thr) c.2713T>A (p.Ser905Thr) c.86T>A c.1975T>A (p.Ser659Thr) c.2725T>A (p.Ser909Thr) c.2731T>A (p.Ser911Thr) | |
| 8 | g.115418402G>A | CA462631432 | TRPS1 | c.2751C>T (p.Thr917=) c.2712C>T (p.Thr904=) c.85C>T c.1974C>T (p.Thr658=) c.2724C>T (p.Thr908=) c.2730C>T (p.Thr910=) | dbSNP |
| 8 | g.115418402G>C | CA462631433 | TRPS1 | c.2751C>G (p.Thr917=) c.2712C>G (p.Thr904=) c.85C>G c.1974C>G (p.Thr658=) c.2724C>G (p.Thr908=) c.2730C>G (p.Thr910=) | dbSNP |
| 8 | g.115418402G= | CA1812857529 | TRPS1 | c.2751C= (p.Thr917=) c.2712C= (p.Thr904=) c.85C= c.1974C= (p.Thr658=) c.2724C= (p.Thr908=) c.2730C= (p.Thr910=) | |
| 8 | g.115418402G>T | CA462631434 | TRPS1 | c.2751C>A (p.Thr917=) c.2712C>A (p.Thr904=) c.85C>A c.1974C>A (p.Thr658=) c.2724C>A (p.Thr908=) c.2730C>A (p.Thr910=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.115418403G>A | CA372064327 | TRPS1 | c.2750C>T (p.Thr917Ile) c.2711C>T (p.Thr904Ile) c.84C>T c.1973C>T (p.Thr658Ile) c.2723C>T (p.Thr908Ile) c.2729C>T (p.Thr910Ile) | ClinVar |
| 8 | g.115418403G>C | CA372064328 | TRPS1 | c.2750C>G (p.Thr917Ser) c.2711C>G (p.Thr904Ser) c.84C>G c.1973C>G (p.Thr658Ser) c.2723C>G (p.Thr908Ser) c.2729C>G (p.Thr910Ser) | |
| 8 | g.115418403G>T | CA372064329 | TRPS1 | c.2750C>A (p.Thr917Asn) c.2711C>A (p.Thr904Asn) c.84C>A c.1973C>A (p.Thr658Asn) c.2723C>A (p.Thr908Asn) c.2729C>A (p.Thr910Asn) | |
| 8 | g.115418404T>A | CA372064330 | TRPS1 | c.2749A>T (p.Thr917Ser) c.2710A>T (p.Thr904Ser) c.83A>T c.1972A>T (p.Thr658Ser) c.2722A>T (p.Thr908Ser) c.2728A>T (p.Thr910Ser) | |
| 8 | g.115418404T>C | CA372064331 | TRPS1 | c.2749A>G (p.Thr917Ala) c.2710A>G (p.Thr904Ala) c.83A>G c.1972A>G (p.Thr658Ala) c.2722A>G (p.Thr908Ala) c.2728A>G (p.Thr910Ala) | |
| 8 | g.115418404T>G | CA372064332 | TRPS1 | c.2749A>C (p.Thr917Pro) c.2710A>C (p.Thr904Pro) c.83A>C c.1972A>C (p.Thr658Pro) c.2722A>C (p.Thr908Pro) c.2728A>C (p.Thr910Pro) | |
| 8 | g.115418405C>A | CA372064333 | TRPS1 | c.2748G>T (p.Lys916Asn) c.2709G>T (p.Lys903Asn) c.82G>T c.1971G>T (p.Lys657Asn) c.2721G>T (p.Lys907Asn) c.2727G>T (p.Lys909Asn) | |
| 8 | g.115418405C>G | CA372064334 | TRPS1 | c.2748G>C (p.Lys916Asn) c.2709G>C (p.Lys903Asn) c.82G>C c.1971G>C (p.Lys657Asn) c.2721G>C (p.Lys907Asn) c.2727G>C (p.Lys909Asn) | |
| 8 | g.115418405C>T | CA462631435 | TRPS1 | c.2748G>A (p.Lys916=) c.2709G>A (p.Lys903=) c.82G>A c.1971G>A (p.Lys657=) c.2721G>A (p.Lys907=) c.2727G>A (p.Lys909=) | |
| 8 | g.115418406T>A | CA372064335 | TRPS1 | c.2747A>T (p.Lys916Met) c.2708A>T (p.Lys903Met) c.81A>T c.1970A>T (p.Lys657Met) c.2720A>T (p.Lys907Met) c.2726A>T (p.Lys909Met) | |
| 8 | g.115418406T>C | CA372064337 | TRPS1 | c.2747A>G (p.Lys916Arg) c.2708A>G (p.Lys903Arg) c.81A>G c.1970A>G (p.Lys657Arg) c.2720A>G (p.Lys907Arg) c.2726A>G (p.Lys909Arg) | |
| 8 | g.115418406T>G | CA372064336 | TRPS1 | c.2747A>C (p.Lys916Thr) c.2708A>C (p.Lys903Thr) c.81A>C c.1970A>C (p.Lys657Thr) c.2720A>C (p.Lys907Thr) c.2726A>C (p.Lys909Thr) | |
| 8 | g.115418407T>A | CA372064338 | TRPS1 | c.2746A>T (p.Lys916Ter) c.2707A>T (p.Lys903Ter) c.80A>T c.1969A>T (p.Lys657Ter) c.2719A>T (p.Lys907Ter) c.2725A>T (p.Lys909Ter) | |
| 8 | g.115418407T>C | CA372064339 | TRPS1 | c.2746A>G (p.Lys916Glu) c.2707A>G (p.Lys903Glu) c.80A>G c.1969A>G (p.Lys657Glu) c.2719A>G (p.Lys907Glu) c.2725A>G (p.Lys909Glu) | |
| 8 | g.115418407T>G | CA372064340 | TRPS1 | c.2746A>C (p.Lys916Gln) c.2707A>C (p.Lys903Gln) c.80A>C c.1969A>C (p.Lys657Gln) c.2719A>C (p.Lys907Gln) c.2725A>C (p.Lys909Gln) | |
| 8 | g.115418408T>A | CA462631436 | TRPS1 | c.2745A>T (p.Thr915=) c.2706A>T (p.Thr902=) c.79A>T c.1968A>T (p.Thr656=) c.2718A>T (p.Thr906=) c.2724A>T (p.Thr908=) | |
| 8 | g.115418408T>C | CA4851584 | TRPS1 | c.2745A>G (p.Thr915=) c.2706A>G (p.Thr902=) c.79A>G c.1968A>G (p.Thr656=) c.2718A>G (p.Thr906=) c.2724A>G (p.Thr908=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.115418408T>G | CA462631437 | TRPS1 | c.2745A>C (p.Thr915=) c.2706A>C (p.Thr902=) c.79A>C c.1968A>C (p.Thr656=) c.2718A>C (p.Thr906=) c.2724A>C (p.Thr908=) | |
| 8 | g.115418408T= | CA1812857531 | TRPS1 | c.2745A= (p.Thr915=) c.2706A= (p.Thr902=) c.79A= c.1968A= (p.Thr656=) c.2718A= (p.Thr906=) c.2724A= (p.Thr908=) | |
| 8 | g.115418409G>A | CA184471403 | TRPS1 | c.2744C>T (p.Thr915Ile) c.2705C>T (p.Thr902Ile) c.78C>T c.1967C>T (p.Thr656Ile) c.2717C>T (p.Thr906Ile) c.2723C>T (p.Thr908Ile) | dbSNP |
| 8 | g.115418409G>C | CA372064341 | TRPS1 | c.2744C>G (p.Thr915Arg) c.2705C>G (p.Thr902Arg) c.78C>G c.1967C>G (p.Thr656Arg) c.2717C>G (p.Thr906Arg) c.2723C>G (p.Thr908Arg) | |
| 8 | g.115418409G= | CA1812857535 | TRPS1 | c.2744C= (p.Thr915=) c.2705C= (p.Thr902=) c.78C= c.1967C= (p.Thr656=) c.2717C= (p.Thr906=) c.2723C= (p.Thr908=) | |
| 8 | g.115418409G>T | CA372064342 | TRPS1 | c.2744C>A (p.Thr915Lys) c.2705C>A (p.Thr902Lys) c.78C>A c.1967C>A (p.Thr656Lys) c.2717C>A (p.Thr906Lys) c.2723C>A (p.Thr908Lys) | |
| 8 | g.115418410T>A | CA372064343 | TRPS1 | c.2743A>T (p.Thr915Ser) c.2704A>T (p.Thr902Ser) c.77A>T c.1966A>T (p.Thr656Ser) c.2716A>T (p.Thr906Ser) c.2722A>T (p.Thr908Ser) | |
| 8 | g.115418410T>C | CA372064344 | TRPS1 | c.2743A>G (p.Thr915Ala) c.2704A>G (p.Thr902Ala) c.77A>G c.1966A>G (p.Thr656Ala) c.2716A>G (p.Thr906Ala) c.2722A>G (p.Thr908Ala) | ClinVar dbSNP gnomAD v4 |
| 8 | g.115418410T>G | CA372064345 | TRPS1 | c.2743A>C (p.Thr915Pro) c.2704A>C (p.Thr902Pro) c.77A>C c.1966A>C (p.Thr656Pro) c.2716A>C (p.Thr906Pro) c.2722A>C (p.Thr908Pro) | |
| 8 | g.115418411G>A | CA462631440 | TRPS1 | c.2742C>T (p.Thr914=) c.2703C>T (p.Thr901=) c.76C>T c.1965C>T (p.Thr655=) c.2715C>T (p.Thr905=) c.2721C>T (p.Thr907=) | |
| 8 | g.115418411G>C | CA462631439 | TRPS1 | c.2742C>G (p.Thr914=) c.2703C>G (p.Thr901=) c.76C>G c.1965C>G (p.Thr655=) c.2715C>G (p.Thr905=) c.2721C>G (p.Thr907=) | |
| 8 | g.115418411G>T | CA462631438 | TRPS1 | c.2742C>A (p.Thr914=) c.2703C>A (p.Thr901=) c.76C>A c.1965C>A (p.Thr655=) c.2715C>A (p.Thr905=) c.2721C>A (p.Thr907=) | |
| 8 | g.115418412G>A | CA372064346 | TRPS1 | c.2741C>T (p.Thr914Ile) c.2702C>T (p.Thr901Ile) c.75C>T c.1964C>T (p.Thr655Ile) c.2714C>T (p.Thr905Ile) c.2720C>T (p.Thr907Ile) | |
| 8 | g.115418412G>C | CA372064347 | TRPS1 | c.2741C>G (p.Thr914Ser) c.2702C>G (p.Thr901Ser) c.75C>G c.1964C>G (p.Thr655Ser) c.2714C>G (p.Thr905Ser) c.2720C>G (p.Thr907Ser) | |
| 8 | g.115418412G>T | CA372064348 | TRPS1 | c.2741C>A (p.Thr914Asn) c.2702C>A (p.Thr901Asn) c.75C>A c.1964C>A (p.Thr655Asn) c.2714C>A (p.Thr905Asn) c.2720C>A (p.Thr907Asn) | |
| 8 | g.115418413T>A | CA372064349 | TRPS1 | c.2740A>T (p.Thr914Ser) c.2701A>T (p.Thr901Ser) c.74A>T c.1963A>T (p.Thr655Ser) c.2713A>T (p.Thr905Ser) c.2719A>T (p.Thr907Ser) | |
| 8 | g.115418413T>C | CA372064350 | TRPS1 | c.2740A>G (p.Thr914Ala) c.2701A>G (p.Thr901Ala) c.74A>G c.1963A>G (p.Thr655Ala) c.2713A>G (p.Thr905Ala) c.2719A>G (p.Thr907Ala) | |
| 8 | g.115418413T>G | CA117610 | TRPS1 | c.2740A>C (p.Thr914Pro) c.2701A>C (p.Thr901Pro) c.74A>C c.1963A>C (p.Thr655Pro) c.2713A>C (p.Thr905Pro) c.2719A>C (p.Thr907Pro) | ClinVar dbSNP |
| 8 | g.115418413T= | CA1812857540 | TRPS1 | c.2740A= (p.Thr914=) c.2701A= (p.Thr901=) c.74A= c.1963A= (p.Thr655=) c.2713A= (p.Thr905=) c.2719A= (p.Thr907=) | |
| 8 | g.115418414C>A | CA462631441 | TRPS1 | c.2739G>T (p.Leu913=) c.2700G>T (p.Leu900=) c.73G>T c.1962G>T (p.Leu654=) c.2712G>T (p.Leu904=) c.2718G>T (p.Leu906=) | |
| 8 | g.115418414C>G | CA462631442 | TRPS1 | c.2739G>C (p.Leu913=) c.2700G>C (p.Leu900=) c.73G>C c.1962G>C (p.Leu654=) c.2712G>C (p.Leu904=) c.2718G>C (p.Leu906=) | |
| 8 | g.115418414C>T | CA462631443 | TRPS1 | c.2739G>A (p.Leu913=) c.2700G>A (p.Leu900=) c.73G>A c.1962G>A (p.Leu654=) c.2712G>A (p.Leu904=) c.2718G>A (p.Leu906=) | |
| 8 | g.115418415A>C | CA372064351 | TRPS1 | c.2738T>G (p.Leu913Arg) c.2699T>G (p.Leu900Arg) c.72T>G c.1961T>G (p.Leu654Arg) c.2711T>G (p.Leu904Arg) c.2717T>G (p.Leu906Arg) | |
| 8 | g.115418415A>G | CA372064352 | TRPS1 | c.2738T>C (p.Leu913Pro) c.2699T>C (p.Leu900Pro) c.72T>C c.1961T>C (p.Leu654Pro) c.2711T>C (p.Leu904Pro) c.2717T>C (p.Leu906Pro) | |
| 8 | g.115418415A>T | CA372064353 | TRPS1 | c.2738T>A (p.Leu913Gln) c.2699T>A (p.Leu900Gln) c.72T>A c.1961T>A (p.Leu654Gln) c.2711T>A (p.Leu904Gln) c.2717T>A (p.Leu906Gln) | gnomAD v4 |
| 8 | g.115418415dup | CA2740095131 | TRPS1 | c.2738dup (p.Thr914AspfsTer?) c.2699dup (p.Thr901AspfsTer?) c.72dup c.1961dup (p.Thr655AspfsTer?) c.2711dup (p.Thr905AspfsTer?) c.2717dup (p.Thr907AspfsTer?) | ClinVar |
| 8 | g.115418416G>A | CA462631444 | TRPS1 | c.2737C>T (p.Leu913=) c.2698C>T (p.Leu900=) c.71C>T c.1960C>T (p.Leu654=) c.2710C>T (p.Leu904=) c.2716C>T (p.Leu906=) | |
| 8 | g.115418416G>C | CA372064354 | TRPS1 | c.2737C>G (p.Leu913Val) c.2698C>G (p.Leu900Val) c.71C>G c.1960C>G (p.Leu654Val) c.2710C>G (p.Leu904Val) c.2716C>G (p.Leu906Val) | |
| 8 | g.115418416G>T | CA372064355 | TRPS1 | c.2737C>A (p.Leu913Met) c.2698C>A (p.Leu900Met) c.71C>A c.1960C>A (p.Leu654Met) c.2710C>A (p.Leu904Met) c.2716C>A (p.Leu906Met) | |
| 8 | g.115418417G>A | CA462631445 | TRPS1 | c.2736C>T (p.Cys912=) c.2697C>T (p.Cys899=) c.70C>T c.1959C>T (p.Cys653=) c.2709C>T (p.Cys903=) c.2715C>T (p.Cys905=) | dbSNP |
| 8 | g.115418417G>C | CA372064356 | TRPS1 | c.2736C>G (p.Cys912Trp) c.2697C>G (p.Cys899Trp) c.70C>G c.1959C>G (p.Cys653Trp) c.2709C>G (p.Cys903Trp) c.2715C>G (p.Cys905Trp) | |
| 8 | g.115418417G= | CA1812857545 | TRPS1 | c.2736C= (p.Cys912=) c.2697C= (p.Cys899=) c.70C= c.1959C= (p.Cys653=) c.2709C= (p.Cys903=) c.2715C= (p.Cys905=) | |
| 8 | g.115418417G>T | CA372064357 | TRPS1 | c.2736C>A (p.Cys912Ter) c.2697C>A (p.Cys899Ter) c.70C>A c.1959C>A (p.Cys653Ter) c.2709C>A (p.Cys903Ter) c.2715C>A (p.Cys905Ter) | |
| 8 | g.115418418C>A | CA372064358 | TRPS1 | c.2735G>T (p.Cys912Phe) c.2696G>T (p.Cys899Phe) c.69G>T c.1958G>T (p.Cys653Phe) c.2708G>T (p.Cys903Phe) c.2714G>T (p.Cys905Phe) | ClinVar |
| 8 | g.115418418C>G | CA372064359 | TRPS1 | c.2735G>C (p.Cys912Ser) c.2696G>C (p.Cys899Ser) c.69G>C c.1958G>C (p.Cys653Ser) c.2708G>C (p.Cys903Ser) c.2714G>C (p.Cys905Ser) | |
| 8 | g.115418418C>T | CA372064360 | TRPS1 | c.2735G>A (p.Cys912Tyr) c.2696G>A (p.Cys899Tyr) c.69G>A c.1958G>A (p.Cys653Tyr) c.2708G>A (p.Cys903Tyr) c.2714G>A (p.Cys905Tyr) | COSMIC COSMIC |
| 8 | g.115418419A>C | CA372064363 | TRPS1 | c.2734T>G (p.Cys912Gly) c.2695T>G (p.Cys899Gly) c.68T>G c.1957T>G (p.Cys653Gly) c.2707T>G (p.Cys903Gly) c.2713T>G (p.Cys905Gly) | |
| 8 | g.115418419A>G | CA372064362 | TRPS1 | c.2734T>C (p.Cys912Arg) c.2695T>C (p.Cys899Arg) c.68T>C c.1957T>C (p.Cys653Arg) c.2707T>C (p.Cys903Arg) c.2713T>C (p.Cys905Arg) | |
| 8 | g.115418419A>T | CA372064361 | TRPS1 | c.2734T>A (p.Cys912Ser) c.2695T>A (p.Cys899Ser) c.68T>A c.1957T>A (p.Cys653Ser) c.2707T>A (p.Cys903Ser) c.2713T>A (p.Cys905Ser) | |
| 8 | g.115418420A>C | CA372064364 | TRPS1 | c.2733T>G (p.Asn911Lys) c.2694T>G (p.Asn898Lys) c.67T>G c.1956T>G (p.Asn652Lys) c.2706T>G (p.Asn902Lys) c.2712T>G (p.Asn904Lys) | |
| 8 | g.115418420A>G | CA462631446 | TRPS1 | c.2733T>C (p.Asn911=) c.2694T>C (p.Asn898=) c.67T>C c.1956T>C (p.Asn652=) c.2706T>C (p.Asn902=) c.2712T>C (p.Asn904=) | |
| 8 | g.115418420A>T | CA372064365 | TRPS1 | c.2733T>A (p.Asn911Lys) c.2694T>A (p.Asn898Lys) c.67T>A c.1956T>A (p.Asn652Lys) c.2706T>A (p.Asn902Lys) c.2712T>A (p.Asn904Lys) | |
| 8 | g.115418421T>A | CA372064366 | TRPS1 | c.2732A>T (p.Asn911Ile) c.2693A>T (p.Asn898Ile) c.66A>T c.1955A>T (p.Asn652Ile) c.2705A>T (p.Asn902Ile) c.2711A>T (p.Asn904Ile) | |
| 8 | g.115418421T>C | CA372064367 | TRPS1 | c.2732A>G (p.Asn911Ser) c.2693A>G (p.Asn898Ser) c.66A>G c.1955A>G (p.Asn652Ser) c.2705A>G (p.Asn902Ser) c.2711A>G (p.Asn904Ser) | ClinVar dbSNP |
| 8 | g.115418421T>G | CA372064368 | TRPS1 | c.2732A>C (p.Asn911Thr) c.2693A>C (p.Asn898Thr) c.66A>C c.1955A>C (p.Asn652Thr) c.2705A>C (p.Asn902Thr) c.2711A>C (p.Asn904Thr) | |
| 8 | g.115418421T= | CA1812857549 | TRPS1 | c.2732A= (p.Asn911=) c.2693A= (p.Asn898=) c.66A= c.1955A= (p.Asn652=) c.2705A= (p.Asn902=) c.2711A= (p.Asn904=) |