UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.77596630G>A | CA353525031 | ROBO2 | c.2746G>A (p.Gly916Ser) c.2794G>A (p.Gly932Ser) c.2815G>A (p.Gly939Ser) c.2734G>A (p.Gly912Ser) c.*1041G>A (n.*1041G>A) c.*1178G>A (n.*1178G>A) c.2782G>A (p.Gly928Ser) c.204G>A c.2350G>A (p.Gly784Ser) c.955G>A (p.Gly319Ser) c.2803G>A (p.Gly935Ser) | |
| 3 | g.77596630G>C | CA2497421 | ROBO2 | c.2746G>C (p.Gly916Arg) c.2794G>C (p.Gly932Arg) c.2815G>C (p.Gly939Arg) c.2734G>C (p.Gly912Arg) c.*1041G>C (n.*1041G>C) c.*1178G>C (n.*1178G>C) c.2782G>C (p.Gly928Arg) c.204G>C c.2350G>C (p.Gly784Arg) c.955G>C (p.Gly319Arg) c.2803G>C (p.Gly935Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.77596630G= | CA1376755293 | ROBO2 | c.2746G= (p.Gly916=) c.2794G= (p.Gly932=) c.2815G= (p.Gly939=) c.2734G= (p.Gly912=) c.*1041G= (n.*1041G=) c.*1178G= (n.*1178G=) c.2782G= (p.Gly928=) c.204G= c.2350G= (p.Gly784=) c.955G= (p.Gly319=) c.2803G= (p.Gly935=) | |
| 3 | g.77596630G>T | CA353525032 | ROBO2 | c.2746G>T (p.Gly916Cys) c.2794G>T (p.Gly932Cys) c.2815G>T (p.Gly939Cys) c.2734G>T (p.Gly912Cys) c.*1041G>T (n.*1041G>T) c.*1178G>T (n.*1178G>T) c.2782G>T (p.Gly928Cys) c.204G>T c.2350G>T (p.Gly784Cys) c.955G>T (p.Gly319Cys) c.2803G>T (p.Gly935Cys) | |
| 3 | g.77596631G>A | CA353525033 | ROBO2 | c.2747G>A (p.Gly916Asp) c.2795G>A (p.Gly932Asp) c.2816G>A (p.Gly939Asp) c.2735G>A (p.Gly912Asp) c.*1042G>A (n.*1042G>A) c.*1179G>A (n.*1179G>A) c.2783G>A (p.Gly928Asp) c.205G>A c.2351G>A (p.Gly784Asp) c.956G>A (p.Gly319Asp) c.2804G>A (p.Gly935Asp) | ClinVar |
| 3 | g.77596631G>C | CA353525034 | ROBO2 | c.2747G>C (p.Gly916Ala) c.2795G>C (p.Gly932Ala) c.2816G>C (p.Gly939Ala) c.2735G>C (p.Gly912Ala) c.*1042G>C (n.*1042G>C) c.*1179G>C (n.*1179G>C) c.2783G>C (p.Gly928Ala) c.205G>C c.2351G>C (p.Gly784Ala) c.956G>C (p.Gly319Ala) c.2804G>C (p.Gly935Ala) | |
| 3 | g.77596631G= | CA1376755294 | ROBO2 | c.2747G= (p.Gly916=) c.2795G= (p.Gly932=) c.2816G= (p.Gly939=) c.2735G= (p.Gly912=) c.*1042G= (n.*1042G=) c.*1179G= (n.*1179G=) c.2783G= (p.Gly928=) c.205G= c.2351G= (p.Gly784=) c.956G= (p.Gly319=) c.2804G= (p.Gly935=) | |
| 3 | g.77596631G>T | CA353525035 | ROBO2 | c.2747G>T (p.Gly916Val) c.2795G>T (p.Gly932Val) c.2816G>T (p.Gly939Val) c.2735G>T (p.Gly912Val) c.*1042G>T (n.*1042G>T) c.*1179G>T (n.*1179G>T) c.2783G>T (p.Gly928Val) c.205G>T c.2351G>T (p.Gly784Val) c.956G>T (p.Gly319Val) c.2804G>T (p.Gly935Val) | dbSNP gnomAD v4 |
| 3 | g.77596632T>A | CA434436180 | ROBO2 | c.2748T>A (p.Gly916=) c.2796T>A (p.Gly932=) c.2817T>A (p.Gly939=) c.2736T>A (p.Gly912=) c.*1043T>A (n.*1043T>A) c.*1180T>A (n.*1180T>A) c.2784T>A (p.Gly928=) c.206T>A c.2352T>A (p.Gly784=) c.957T>A (p.Gly319=) c.2805T>A (p.Gly935=) | |
| 3 | g.77596632T>C | CA434436181 | ROBO2 | c.2748T>C (p.Gly916=) c.2796T>C (p.Gly932=) c.2817T>C (p.Gly939=) c.2736T>C (p.Gly912=) c.*1043T>C (n.*1043T>C) c.*1180T>C (n.*1180T>C) c.2784T>C (p.Gly928=) c.206T>C c.2352T>C (p.Gly784=) c.957T>C (p.Gly319=) c.2805T>C (p.Gly935=) | COSMIC COSMIC |
| 3 | g.77596632T>G | CA434436182 | ROBO2 | c.2748T>G (p.Gly916=) c.2796T>G (p.Gly932=) c.2817T>G (p.Gly939=) c.2736T>G (p.Gly912=) c.*1043T>G (n.*1043T>G) c.*1180T>G (n.*1180T>G) c.2784T>G (p.Gly928=) c.206T>G c.2352T>G (p.Gly784=) c.957T>G (p.Gly319=) c.2805T>G (p.Gly935=) | |
| 3 | g.77596633C>A | CA353525036 | ROBO2 | c.2749C>A (p.Leu917Ile) c.2797C>A (p.Leu933Ile) c.2818C>A (p.Leu940Ile) c.2737C>A (p.Leu913Ile) c.*1044C>A (n.*1044C>A) c.*1181C>A (n.*1181C>A) c.2785C>A (p.Leu929Ile) c.207C>A c.2353C>A (p.Leu785Ile) c.958C>A (p.Leu320Ile) c.2806C>A (p.Leu936Ile) | |
| 3 | g.77596633C= | CA1376755295 | ROBO2 | c.2749C= (p.Leu917=) c.2797C= (p.Leu933=) c.2818C= (p.Leu940=) c.2737C= (p.Leu913=) c.*1044C= (n.*1044C=) c.*1181C= (n.*1181C=) c.2785C= (p.Leu929=) c.207C= c.2353C= (p.Leu785=) c.958C= (p.Leu320=) c.2806C= (p.Leu936=) | |
| 3 | g.77596633C>G | CA353525037 | ROBO2 | c.2749C>G (p.Leu917Val) c.2797C>G (p.Leu933Val) c.2818C>G (p.Leu940Val) c.2737C>G (p.Leu913Val) c.*1044C>G (n.*1044C>G) c.*1181C>G (n.*1181C>G) c.2785C>G (p.Leu929Val) c.207C>G c.2353C>G (p.Leu785Val) c.958C>G (p.Leu320Val) c.2806C>G (p.Leu936Val) | |
| 3 | g.77596633C>T | CA2497422 | ROBO2 | c.2749C>T (p.Leu917Phe) c.2797C>T (p.Leu933Phe) c.2818C>T (p.Leu940Phe) c.2737C>T (p.Leu913Phe) c.*1044C>T (n.*1044C>T) c.*1181C>T (n.*1181C>T) c.2785C>T (p.Leu929Phe) c.207C>T c.2353C>T (p.Leu785Phe) c.958C>T (p.Leu320Phe) c.2806C>T (p.Leu936Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.77596634T>A | CA353525038 | ROBO2 | c.2750T>A (p.Leu917His) c.2798T>A (p.Leu933His) c.2819T>A (p.Leu940His) c.2738T>A (p.Leu913His) c.*1045T>A (n.*1045T>A) c.*1182T>A (n.*1182T>A) c.2786T>A (p.Leu929His) c.208T>A c.2354T>A (p.Leu785His) c.959T>A (p.Leu320His) c.2807T>A (p.Leu936His) | |
| 3 | g.77596634T>C | CA353525039 | ROBO2 | c.2750T>C (p.Leu917Pro) c.2798T>C (p.Leu933Pro) c.2819T>C (p.Leu940Pro) c.2738T>C (p.Leu913Pro) c.*1045T>C (n.*1045T>C) c.*1182T>C (n.*1182T>C) c.2786T>C (p.Leu929Pro) c.208T>C c.2354T>C (p.Leu785Pro) c.959T>C (p.Leu320Pro) c.2807T>C (p.Leu936Pro) | |
| 3 | g.77596634T>G | CA353525040 | ROBO2 | c.2750T>G (p.Leu917Arg) c.2798T>G (p.Leu933Arg) c.2819T>G (p.Leu940Arg) c.2738T>G (p.Leu913Arg) c.*1045T>G (n.*1045T>G) c.*1182T>G (n.*1182T>G) c.2786T>G (p.Leu929Arg) c.208T>G c.2354T>G (p.Leu785Arg) c.959T>G (p.Leu320Arg) c.2807T>G (p.Leu936Arg) | gnomAD v4 |
| 3 | g.77596635T>A | CA434436183 | ROBO2 | c.2751T>A (p.Leu917=) c.2799T>A (p.Leu933=) c.2820T>A (p.Leu940=) c.2739T>A (p.Leu913=) c.*1046T>A (n.*1046T>A) c.*1183T>A (n.*1183T>A) c.2787T>A (p.Leu929=) c.209T>A c.2355T>A (p.Leu785=) c.960T>A (p.Leu320=) c.2808T>A (p.Leu936=) | |
| 3 | g.77596635T>C | CA434436185 | ROBO2 | c.2751T>C (p.Leu917=) c.2799T>C (p.Leu933=) c.2820T>C (p.Leu940=) c.2739T>C (p.Leu913=) c.*1046T>C (n.*1046T>C) c.*1183T>C (n.*1183T>C) c.2787T>C (p.Leu929=) c.209T>C c.2355T>C (p.Leu785=) c.960T>C (p.Leu320=) c.2808T>C (p.Leu936=) | |
| 3 | g.77596635T>G | CA434436184 | ROBO2 | c.2751T>G (p.Leu917=) c.2799T>G (p.Leu933=) c.2820T>G (p.Leu940=) c.2739T>G (p.Leu913=) c.*1046T>G (n.*1046T>G) c.*1183T>G (n.*1183T>G) c.2787T>G (p.Leu929=) c.209T>G c.2355T>G (p.Leu785=) c.960T>G (p.Leu320=) c.2808T>G (p.Leu936=) | |
| 3 | g.77596636C>A | CA353525043 | ROBO2 | c.2752C>A (p.Leu918Ile) c.2800C>A (p.Leu934Ile) c.2821C>A (p.Leu941Ile) c.2740C>A (p.Leu914Ile) c.*1047C>A (n.*1047C>A) c.*1184C>A (n.*1184C>A) c.2788C>A (p.Leu930Ile) c.210C>A c.2356C>A (p.Leu786Ile) c.961C>A (p.Leu321Ile) c.2809C>A (p.Leu937Ile) | |
| 3 | g.77596636C>G | CA353525041 | ROBO2 | c.2752C>G (p.Leu918Val) c.2800C>G (p.Leu934Val) c.2821C>G (p.Leu941Val) c.2740C>G (p.Leu914Val) c.*1047C>G (n.*1047C>G) c.*1184C>G (n.*1184C>G) c.2788C>G (p.Leu930Val) c.210C>G c.2356C>G (p.Leu786Val) c.961C>G (p.Leu321Val) c.2809C>G (p.Leu937Val) | |
| 3 | g.77596636C>T | CA353525042 | ROBO2 | c.2752C>T (p.Leu918Phe) c.2800C>T (p.Leu934Phe) c.2821C>T (p.Leu941Phe) c.2740C>T (p.Leu914Phe) c.*1047C>T (n.*1047C>T) c.*1184C>T (n.*1184C>T) c.2788C>T (p.Leu930Phe) c.210C>T c.2356C>T (p.Leu786Phe) c.961C>T (p.Leu321Phe) c.2809C>T (p.Leu937Phe) | |
| 3 | g.77596637T>A | CA353525044 | ROBO2 | c.2753T>A (p.Leu918His) c.2801T>A (p.Leu934His) c.2822T>A (p.Leu941His) c.2741T>A (p.Leu914His) c.*1048T>A (n.*1048T>A) c.*1185T>A (n.*1185T>A) c.2789T>A (p.Leu930His) c.211T>A c.2357T>A (p.Leu786His) c.962T>A (p.Leu321His) c.2810T>A (p.Leu937His) | |
| 3 | g.77596637T>C | CA353525045 | ROBO2 | c.2753T>C (p.Leu918Pro) c.2801T>C (p.Leu934Pro) c.2822T>C (p.Leu941Pro) c.2741T>C (p.Leu914Pro) c.*1048T>C (n.*1048T>C) c.*1185T>C (n.*1185T>C) c.2789T>C (p.Leu930Pro) c.211T>C c.2357T>C (p.Leu786Pro) c.962T>C (p.Leu321Pro) c.2810T>C (p.Leu937Pro) | dbSNP |
| 3 | g.77596637T>G | CA353525046 | ROBO2 | c.2753T>G (p.Leu918Arg) c.2801T>G (p.Leu934Arg) c.2822T>G (p.Leu941Arg) c.2741T>G (p.Leu914Arg) c.*1048T>G (n.*1048T>G) c.*1185T>G (n.*1185T>G) c.2789T>G (p.Leu930Arg) c.211T>G c.2357T>G (p.Leu786Arg) c.962T>G (p.Leu321Arg) c.2810T>G (p.Leu937Arg) | |
| 3 | g.77596637T= | CA1376755296 | ROBO2 | c.2753T= (p.Leu918=) c.2801T= (p.Leu934=) c.2822T= (p.Leu941=) c.2741T= (p.Leu914=) c.*1048T= (n.*1048T=) c.*1185T= (n.*1185T=) c.2789T= (p.Leu930=) c.211T= c.2357T= (p.Leu786=) c.962T= (p.Leu321=) c.2810T= (p.Leu937=) | |
| 3 | g.77596638C>A | CA434436186 | ROBO2 | c.2754C>A (p.Leu918=) c.2802C>A (p.Leu934=) c.2823C>A (p.Leu941=) c.2742C>A (p.Leu914=) c.*1049C>A (n.*1049C>A) c.*1186C>A (n.*1186C>A) c.2790C>A (p.Leu930=) c.212C>A c.2358C>A (p.Leu786=) c.963C>A (p.Leu321=) c.2811C>A (p.Leu937=) | |
| 3 | g.77596638C>G | CA434436187 | ROBO2 | c.2754C>G (p.Leu918=) c.2802C>G (p.Leu934=) c.2823C>G (p.Leu941=) c.2742C>G (p.Leu914=) c.*1049C>G (n.*1049C>G) c.*1186C>G (n.*1186C>G) c.2790C>G (p.Leu930=) c.212C>G c.2358C>G (p.Leu786=) c.963C>G (p.Leu321=) c.2811C>G (p.Leu937=) | gnomAD v4 |
| 3 | g.77596638C>T | CA434436188 | ROBO2 | c.2754C>T (p.Leu918=) c.2802C>T (p.Leu934=) c.2823C>T (p.Leu941=) c.2742C>T (p.Leu914=) c.*1049C>T (n.*1049C>T) c.*1186C>T (n.*1186C>T) c.2790C>T (p.Leu930=) c.212C>T c.2358C>T (p.Leu786=) c.963C>T (p.Leu321=) c.2811C>T (p.Leu937=) | |
| 3 | g.77596639A>C | CA353525047 | ROBO2 | c.2755A>C (p.Asn919His) c.2803A>C (p.Asn935His) c.2824A>C (p.Asn942His) c.2743A>C (p.Asn915His) c.*1050A>C (n.*1050A>C) c.*1187A>C (n.*1187A>C) c.2791A>C (p.Asn931His) c.213A>C c.2359A>C (p.Asn787His) c.964A>C (p.Asn322His) c.2812A>C (p.Asn938His) | |
| 3 | g.77596639A>G | CA353525048 | ROBO2 | c.2755A>G (p.Asn919Asp) c.2803A>G (p.Asn935Asp) c.2824A>G (p.Asn942Asp) c.2743A>G (p.Asn915Asp) c.*1050A>G (n.*1050A>G) c.*1187A>G (n.*1187A>G) c.2791A>G (p.Asn931Asp) c.213A>G c.2359A>G (p.Asn787Asp) c.964A>G (p.Asn322Asp) c.2812A>G (p.Asn938Asp) | |
| 3 | g.77596639A>T | CA353525049 | ROBO2 | c.2755A>T (p.Asn919Tyr) c.2803A>T (p.Asn935Tyr) c.2824A>T (p.Asn942Tyr) c.2743A>T (p.Asn915Tyr) c.*1050A>T (n.*1050A>T) c.*1187A>T (n.*1187A>T) c.2791A>T (p.Asn931Tyr) c.213A>T c.2359A>T (p.Asn787Tyr) c.964A>T (p.Asn322Tyr) c.2812A>T (p.Asn938Tyr) | |
| 3 | g.77596640A= | CA1376755297 | ROBO2 | c.2756A= (p.Asn919=) c.2804A= (p.Asn935=) c.2825A= (p.Asn942=) c.2744A= (p.Asn915=) c.*1051A= (n.*1051A=) c.*1188A= (n.*1188A=) c.2792A= (p.Asn931=) c.214A= c.2360A= (p.Asn787=) c.965A= (p.Asn322=) c.2813A= (p.Asn938=) | |
| 3 | g.77596640A>C | CA353525050 | ROBO2 | c.2756A>C (p.Asn919Thr) c.2804A>C (p.Asn935Thr) c.2825A>C (p.Asn942Thr) c.2744A>C (p.Asn915Thr) c.*1051A>C (n.*1051A>C) c.*1188A>C (n.*1188A>C) c.2792A>C (p.Asn931Thr) c.214A>C c.2360A>C (p.Asn787Thr) c.965A>C (p.Asn322Thr) c.2813A>C (p.Asn938Thr) | dbSNP gnomAD v4 |
| 3 | g.77596640A>G | CA77514911 | ROBO2 | c.2756A>G (p.Asn919Ser) c.2804A>G (p.Asn935Ser) c.2825A>G (p.Asn942Ser) c.2744A>G (p.Asn915Ser) c.*1051A>G (n.*1051A>G) c.*1188A>G (n.*1188A>G) c.2792A>G (p.Asn931Ser) c.214A>G c.2360A>G (p.Asn787Ser) c.965A>G (p.Asn322Ser) c.2813A>G (p.Asn938Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.77596640A>T | CA353525051 | ROBO2 | c.2756A>T (p.Asn919Ile) c.2804A>T (p.Asn935Ile) c.2825A>T (p.Asn942Ile) c.2744A>T (p.Asn915Ile) c.*1051A>T (n.*1051A>T) c.*1188A>T (n.*1188A>T) c.2792A>T (p.Asn931Ile) c.214A>T c.2360A>T (p.Asn787Ile) c.965A>T (p.Asn322Ile) c.2813A>T (p.Asn938Ile) | |
| 3 | g.77596641T>A | CA353525052 | ROBO2 | c.2757T>A (p.Asn919Lys) c.2805T>A (p.Asn935Lys) c.2826T>A (p.Asn942Lys) c.2745T>A (p.Asn915Lys) c.*1052T>A (n.*1052T>A) c.*1189T>A (n.*1189T>A) c.2793T>A (p.Asn931Lys) c.215T>A c.2361T>A (p.Asn787Lys) c.966T>A (p.Asn322Lys) c.2814T>A (p.Asn938Lys) | |
| 3 | g.77596641T>C | CA434436189 | ROBO2 | c.2757T>C (p.Asn919=) c.2805T>C (p.Asn935=) c.2826T>C (p.Asn942=) c.2745T>C (p.Asn915=) c.*1052T>C (n.*1052T>C) c.*1189T>C (n.*1189T>C) c.2793T>C (p.Asn931=) c.215T>C c.2361T>C (p.Asn787=) c.966T>C (p.Asn322=) c.2814T>C (p.Asn938=) | gnomAD v4 |
| 3 | g.77596641T>G | CA353525053 | ROBO2 | c.2757T>G (p.Asn919Lys) c.2805T>G (p.Asn935Lys) c.2826T>G (p.Asn942Lys) c.2745T>G (p.Asn915Lys) c.*1052T>G (n.*1052T>G) c.*1189T>G (n.*1189T>G) c.2793T>G (p.Asn931Lys) c.215T>G c.2361T>G (p.Asn787Lys) c.966T>G (p.Asn322Lys) c.2814T>G (p.Asn938Lys) | gnomAD v4 |
| 3 | g.77596642G>A | CA353525055 | ROBO2 | c.2758G>A (p.Ala920Thr) c.2806G>A (p.Ala936Thr) c.2827G>A (p.Ala943Thr) c.2746G>A (p.Ala916Thr) c.*1053G>A (n.*1053G>A) c.*1190G>A (n.*1190G>A) c.2794G>A (p.Ala932Thr) c.216G>A c.2362G>A (p.Ala788Thr) c.967G>A (p.Ala323Thr) c.2815G>A (p.Ala939Thr) | |
| 3 | g.77596642G>C | CA2497423 | ROBO2 | c.2758G>C (p.Ala920Pro) c.2806G>C (p.Ala936Pro) c.2827G>C (p.Ala943Pro) c.2746G>C (p.Ala916Pro) c.*1053G>C (n.*1053G>C) c.*1190G>C (n.*1190G>C) c.2794G>C (p.Ala932Pro) c.216G>C c.2362G>C (p.Ala788Pro) c.967G>C (p.Ala323Pro) c.2815G>C (p.Ala939Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.77596642G= | CA1376755298 | ROBO2 | c.2758G= (p.Ala920=) c.2806G= (p.Ala936=) c.2827G= (p.Ala943=) c.2746G= (p.Ala916=) c.*1053G= (n.*1053G=) c.*1190G= (n.*1190G=) c.2794G= (p.Ala932=) c.216G= c.2362G= (p.Ala788=) c.967G= (p.Ala323=) c.2815G= (p.Ala939=) | |
| 3 | g.77596642G>T | CA353525054 | ROBO2 | c.2758G>T (p.Ala920Ser) c.2806G>T (p.Ala936Ser) c.2827G>T (p.Ala943Ser) c.2746G>T (p.Ala916Ser) c.*1053G>T (n.*1053G>T) c.*1190G>T (n.*1190G>T) c.2794G>T (p.Ala932Ser) c.216G>T c.2362G>T (p.Ala788Ser) c.967G>T (p.Ala323Ser) c.2815G>T (p.Ala939Ser) | |
| 3 | g.77596643C>A | CA353525056 | ROBO2 | c.2759C>A (p.Ala920Asp) c.2807C>A (p.Ala936Asp) c.2828C>A (p.Ala943Asp) c.2747C>A (p.Ala916Asp) c.*1054C>A (n.*1054C>A) c.*1191C>A (n.*1191C>A) c.2795C>A (p.Ala932Asp) c.217C>A c.2363C>A (p.Ala788Asp) c.968C>A (p.Ala323Asp) c.2816C>A (p.Ala939Asp) | |
| 3 | g.77596643C>G | CA353525058 | ROBO2 | c.2759C>G (p.Ala920Gly) c.2807C>G (p.Ala936Gly) c.2828C>G (p.Ala943Gly) c.2747C>G (p.Ala916Gly) c.*1054C>G (n.*1054C>G) c.*1191C>G (n.*1191C>G) c.2795C>G (p.Ala932Gly) c.217C>G c.2363C>G (p.Ala788Gly) c.968C>G (p.Ala323Gly) c.2816C>G (p.Ala939Gly) | |
| 3 | g.77596643C>T | CA353525057 | ROBO2 | c.2759C>T (p.Ala920Val) c.2807C>T (p.Ala936Val) c.2828C>T (p.Ala943Val) c.2747C>T (p.Ala916Val) c.*1054C>T (n.*1054C>T) c.*1191C>T (n.*1191C>T) c.2795C>T (p.Ala932Val) c.217C>T c.2363C>T (p.Ala788Val) c.968C>T (p.Ala323Val) c.2816C>T (p.Ala939Val) | gnomAD v4 |
| 3 | g.77596644del | CA2756898967 | ROBO2 | c.2760del (p.Gly921ValfsTer19) c.2808del (p.Gly937ValfsTer19) c.2829del (p.Gly944ValfsTer19) c.2748del (p.Gly917ValfsTer19) c.*1055del (n.*1055del) c.*1192del (n.*1192del) c.2796del (p.Gly933ValfsTer19) c.218del c.2364del (p.Gly789ValfsTer19) c.969del (p.Gly324ValfsTer19) c.2817del (p.Gly940ValfsTer19) | |
| 3 | g.77596644T>A | CA434436190 | ROBO2 | c.2760T>A (p.Ala920=) c.2808T>A (p.Ala936=) c.2829T>A (p.Ala943=) c.2748T>A (p.Ala916=) c.*1055T>A (n.*1055T>A) c.*1192T>A (n.*1192T>A) c.2796T>A (p.Ala932=) c.218T>A c.2364T>A (p.Ala788=) c.969T>A (p.Ala323=) c.2817T>A (p.Ala939=) |