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 |
|---|---|---|---|---|---|
| 5 | g.37063828_37063866delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG | CA1539588616 | NIPBL | c.7899_7937delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2633=) c.7752_7790delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2584=) c.302_340delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Lys101=) n.1781_1819delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG c.1-750_1-712delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (n.1-750_1-712delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG) c.7155_7193delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2385=) c.7701_7739delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2567=) c.7518_7556delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2506=) c.7239_7277delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2413=) c.6282_6320delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2094=) c.6273_6311delinsAGAAGAAGAAGGGGAGGTTTCAGCTAGCACAAATGCTCG (p.Glu2091=) | |
| 5 | g.37063832_37063869del | CA333586 | NIPBL | c.7903_7940del (p.Glu2635GlnfsTer13) c.7756_7793del (p.Glu2586GlnfsTer13) c.306_343del (p.Lys102AsnfsTer?) n.1785_1822del c.1-746_1-709del (n.1-746_1-709del) c.7159_7196del (p.Glu2387GlnfsTer13) c.7705_7742del (p.Glu2569GlnfsTer13) c.7522_7559del (p.Glu2508GlnfsTer13) c.7243_7280del (p.Glu2415GlnfsTer13) c.6286_6323del (p.Glu2096GlnfsTer13) c.6277_6314del (p.Glu2093GlnfsTer13) | ClinVar dbSNP |
| 5 | g.37063842A>C | CA359520187 | NIPBL | c.7913A>C (p.Glu2638Ala) c.7766A>C (p.Glu2589Ala) c.316A>C (p.Arg106=) n.1795A>C c.1-736A>C (n.1-736A>C) c.7169A>C (p.Glu2390Ala) c.7715A>C (p.Glu2572Ala) c.7532A>C (p.Glu2511Ala) c.7253A>C (p.Glu2418Ala) c.6296A>C (p.Glu2099Ala) c.6287A>C (p.Glu2096Ala) | dbSNP |
| 5 | g.37063842A>G | CA359520188 | NIPBL | c.7913A>G (p.Glu2638Gly) c.7766A>G (p.Glu2589Gly) c.316A>G (p.Arg106Gly) n.1795A>G c.1-736A>G (n.1-736A>G) c.7169A>G (p.Glu2390Gly) c.7715A>G (p.Glu2572Gly) c.7532A>G (p.Glu2511Gly) c.7253A>G (p.Glu2418Gly) c.6296A>G (p.Glu2099Gly) c.6287A>G (p.Glu2096Gly) | |
| 5 | g.37063842A>T | CA359520189 | NIPBL | c.7913A>T (p.Glu2638Val) c.7766A>T (p.Glu2589Val) c.316A>T (p.Arg106Trp) n.1795A>T c.1-736A>T (n.1-736A>T) c.7169A>T (p.Glu2390Val) c.7715A>T (p.Glu2572Val) c.7532A>T (p.Glu2511Val) c.7253A>T (p.Glu2418Val) c.6296A>T (p.Glu2099Val) c.6287A>T (p.Glu2096Val) | |
| 5 | g.37063842dup | CA277407 | NIPBL | c.7913dup (p.Val2639GlyfsTer4) c.7766dup (p.Val2590GlyfsTer4) c.316dup (p.Arg106LysfsTer?) n.1795dup c.1-736dup (n.1-736dup) c.7169dup (p.Val2391GlyfsTer4) c.7715dup (p.Val2573GlyfsTer4) c.7532dup (p.Val2512GlyfsTer4) c.7253dup (p.Val2419GlyfsTer4) c.6296dup (p.Val2100GlyfsTer4) c.6287dup (p.Val2097GlyfsTer4) | ClinVar dbSNP |
| 5 | g.37063843G>A | CA117058687 | NIPBL | c.7914G>A (p.Glu2638=) c.7767G>A (p.Glu2589=) c.317G>A (p.Arg106Lys) n.1796G>A c.1-735G>A (n.1-735G>A) c.7170G>A (p.Glu2390=) c.7716G>A (p.Glu2572=) c.7533G>A (p.Glu2511=) c.7254G>A (p.Glu2418=) c.6297G>A (p.Glu2099=) c.6288G>A (p.Glu2096=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37063843G>C | CA359520191 | NIPBL | c.7914G>C (p.Glu2638Asp) c.7767G>C (p.Glu2589Asp) c.317G>C (p.Arg106Thr) n.1796G>C c.1-735G>C (n.1-735G>C) c.7170G>C (p.Glu2390Asp) c.7716G>C (p.Glu2572Asp) c.7533G>C (p.Glu2511Asp) c.7254G>C (p.Glu2418Asp) c.6297G>C (p.Glu2099Asp) c.6288G>C (p.Glu2096Asp) | |
| 5 | g.37063843G= | CA1539588667 | NIPBL | c.7914G= (p.Glu2638=) c.7767G= (p.Glu2589=) c.317G= (p.Arg106=) n.1796G= c.1-735G= (n.1-735G=) c.7170G= (p.Glu2390=) c.7716G= (p.Glu2572=) c.7533G= (p.Glu2511=) c.7254G= (p.Glu2418=) c.6297G= (p.Glu2099=) c.6288G= (p.Glu2096=) | |
| 5 | g.37063843G>T | CA359520190 | NIPBL | c.7914G>T (p.Glu2638Asp) c.7767G>T (p.Glu2589Asp) c.317G>T (p.Arg106Met) n.1796G>T c.1-735G>T (n.1-735G>T) c.7170G>T (p.Glu2390Asp) c.7716G>T (p.Glu2572Asp) c.7533G>T (p.Glu2511Asp) c.7254G>T (p.Glu2418Asp) c.6297G>T (p.Glu2099Asp) c.6288G>T (p.Glu2096Asp) | |
| 5 | g.37063844G>A | CA359520192 | NIPBL | c.7915G>A (p.Val2639Ile) c.7768G>A (p.Val2590Ile) c.318G>A (p.Arg106=) n.1797G>A c.1-734G>A (n.1-734G>A) c.7171G>A (p.Val2391Ile) c.7717G>A (p.Val2573Ile) c.7534G>A (p.Val2512Ile) c.7255G>A (p.Val2419Ile) c.6298G>A (p.Val2100Ile) c.6289G>A (p.Val2097Ile) | |
| 5 | g.37063844G>C | CA359520193 | NIPBL | c.7915G>C (p.Val2639Leu) c.7768G>C (p.Val2590Leu) c.318G>C (p.Arg106Ser) n.1797G>C c.1-734G>C (n.1-734G>C) c.7171G>C (p.Val2391Leu) c.7717G>C (p.Val2573Leu) c.7534G>C (p.Val2512Leu) c.7255G>C (p.Val2419Leu) c.6298G>C (p.Val2100Leu) c.6289G>C (p.Val2097Leu) | |
| 5 | g.37063844G>T | CA359520194 | NIPBL | c.7915G>T (p.Val2639Phe) c.7768G>T (p.Val2590Phe) c.318G>T (p.Arg106Ser) n.1797G>T c.1-734G>T (n.1-734G>T) c.7171G>T (p.Val2391Phe) c.7717G>T (p.Val2573Phe) c.7534G>T (p.Val2512Phe) c.7255G>T (p.Val2419Phe) c.6298G>T (p.Val2100Phe) c.6289G>T (p.Val2097Phe) | gnomAD v4 |
| 5 | g.37063845T>A | CA359520195 | NIPBL | c.7916T>A (p.Val2639Asp) c.7769T>A (p.Val2590Asp) c.319T>A (p.Phe107Ile) n.1798T>A c.1-733T>A (n.1-733T>A) c.7172T>A (p.Val2391Asp) c.7718T>A (p.Val2573Asp) c.7535T>A (p.Val2512Asp) c.7256T>A (p.Val2419Asp) c.6299T>A (p.Val2100Asp) c.6290T>A (p.Val2097Asp) | |
| 5 | g.37063845T>C | CA359520196 | NIPBL | c.7916T>C (p.Val2639Ala) c.7769T>C (p.Val2590Ala) c.319T>C (p.Phe107Leu) n.1798T>C c.1-733T>C (n.1-733T>C) c.7172T>C (p.Val2391Ala) c.7718T>C (p.Val2573Ala) c.7535T>C (p.Val2512Ala) c.7256T>C (p.Val2419Ala) c.6299T>C (p.Val2100Ala) c.6290T>C (p.Val2097Ala) | gnomAD v4 |
| 5 | g.37063845T>G | CA359520197 | NIPBL | c.7916T>G (p.Val2639Gly) c.7769T>G (p.Val2590Gly) c.319T>G (p.Phe107Val) n.1798T>G c.1-733T>G (n.1-733T>G) c.7172T>G (p.Val2391Gly) c.7718T>G (p.Val2573Gly) c.7535T>G (p.Val2512Gly) c.7256T>G (p.Val2419Gly) c.6299T>G (p.Val2100Gly) c.6290T>G (p.Val2097Gly) | |
| 5 | g.37063846T>A | CA359520198 | NIPBL | c.7917T>A (p.Val2639=) c.7770T>A (p.Val2590=) c.320T>A (p.Phe107Tyr) n.1799T>A c.1-732T>A (n.1-732T>A) c.7173T>A (p.Val2391=) c.7719T>A (p.Val2573=) c.7536T>A (p.Val2512=) c.7257T>A (p.Val2419=) c.6300T>A (p.Val2100=) c.6291T>A (p.Val2097=) | |
| 5 | g.37063846T>C | CA359520199 | NIPBL | c.7917T>C (p.Val2639=) c.7770T>C (p.Val2590=) c.320T>C (p.Phe107Ser) n.1799T>C c.1-732T>C (n.1-732T>C) c.7173T>C (p.Val2391=) c.7719T>C (p.Val2573=) c.7536T>C (p.Val2512=) c.7257T>C (p.Val2419=) c.6300T>C (p.Val2100=) c.6291T>C (p.Val2097=) | |
| 5 | g.37063846T>G | CA359520200 | NIPBL | c.7917T>G (p.Val2639=) c.7770T>G (p.Val2590=) c.320T>G (p.Phe107Cys) n.1799T>G c.1-732T>G (n.1-732T>G) c.7173T>G (p.Val2391=) c.7719T>G (p.Val2573=) c.7536T>G (p.Val2512=) c.7257T>G (p.Val2419=) c.6300T>G (p.Val2100=) c.6291T>G (p.Val2097=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37063846T= | CA1539588676 | NIPBL | c.7917T= (p.Val2639=) c.7770T= (p.Val2590=) c.320T= (p.Phe107=) n.1799T= c.1-732T= (n.1-732T=) c.7173T= (p.Val2391=) c.7719T= (p.Val2573=) c.7536T= (p.Val2512=) c.7257T= (p.Val2419=) c.6300T= (p.Val2100=) c.6291T= (p.Val2097=) | |
| 5 | g.37063847T>A | CA359520201 | NIPBL | c.7918T>A (p.Ser2640Thr) c.7771T>A (p.Ser2591Thr) c.321T>A (p.Phe107Leu) n.1800T>A c.1-731T>A (n.1-731T>A) c.7174T>A (p.Ser2392Thr) c.7720T>A (p.Ser2574Thr) c.7537T>A (p.Ser2513Thr) c.7258T>A (p.Ser2420Thr) c.6301T>A (p.Ser2101Thr) c.6292T>A (p.Ser2098Thr) | |
| 5 | g.37063847T>C | CA359520202 | NIPBL | c.7918T>C (p.Ser2640Pro) c.7771T>C (p.Ser2591Pro) c.321T>C (p.Phe107=) n.1800T>C c.1-731T>C (n.1-731T>C) c.7174T>C (p.Ser2392Pro) c.7720T>C (p.Ser2574Pro) c.7537T>C (p.Ser2513Pro) c.7258T>C (p.Ser2420Pro) c.6301T>C (p.Ser2101Pro) c.6292T>C (p.Ser2098Pro) | |
| 5 | g.37063847T>G | CA359520203 | NIPBL | c.7918T>G (p.Ser2640Ala) c.7771T>G (p.Ser2591Ala) c.321T>G (p.Phe107Leu) n.1800T>G c.1-731T>G (n.1-731T>G) c.7174T>G (p.Ser2392Ala) c.7720T>G (p.Ser2574Ala) c.7537T>G (p.Ser2513Ala) c.7258T>G (p.Ser2420Ala) c.6301T>G (p.Ser2101Ala) c.6292T>G (p.Ser2098Ala) | gnomAD v4 |
| 5 | g.37063848C>A | CA359520206 | NIPBL | c.7919C>A (p.Ser2640Ter) c.7772C>A (p.Ser2591Ter) c.322C>A (p.Gln108Lys) n.1801C>A c.1-730C>A (n.1-730C>A) c.7175C>A (p.Ser2392Ter) c.7721C>A (p.Ser2574Ter) c.7538C>A (p.Ser2513Ter) c.7259C>A (p.Ser2420Ter) c.6302C>A (p.Ser2101Ter) c.6293C>A (p.Ser2098Ter) | |
| 5 | g.37063848C>G | CA359520204 | NIPBL | c.7919C>G (p.Ser2640Ter) c.7772C>G (p.Ser2591Ter) c.322C>G (p.Gln108Glu) n.1801C>G c.1-730C>G (n.1-730C>G) c.7175C>G (p.Ser2392Ter) c.7721C>G (p.Ser2574Ter) c.7538C>G (p.Ser2513Ter) c.7259C>G (p.Ser2420Ter) c.6302C>G (p.Ser2101Ter) c.6293C>G (p.Ser2098Ter) | |
| 5 | g.37063848C>T | CA359520205 | NIPBL | c.7919C>T (p.Ser2640Leu) c.7772C>T (p.Ser2591Leu) c.322C>T (p.Gln108Ter) n.1801C>T c.1-730C>T (n.1-730C>T) c.7175C>T (p.Ser2392Leu) c.7721C>T (p.Ser2574Leu) c.7538C>T (p.Ser2513Leu) c.7259C>T (p.Ser2420Leu) c.6302C>T (p.Ser2101Leu) c.6293C>T (p.Ser2098Leu) | gnomAD v4 |
| 5 | g.37063849A= | CA1539588681 | NIPBL | c.7920A= (p.Ser2640=) c.7773A= (p.Ser2591=) c.323A= (p.Gln108=) n.1802A= c.1-729A= (n.1-729A=) c.7176A= (p.Ser2392=) c.7722A= (p.Ser2574=) c.7539A= (p.Ser2513=) c.7260A= (p.Ser2420=) c.6303A= (p.Ser2101=) c.6294A= (p.Ser2098=) | |
| 5 | g.37063849A>C | CA359520207 | NIPBL | c.7920A>C (p.Ser2640=) c.7773A>C (p.Ser2591=) c.323A>C (p.Gln108Pro) n.1802A>C c.1-729A>C (n.1-729A>C) c.7176A>C (p.Ser2392=) c.7722A>C (p.Ser2574=) c.7539A>C (p.Ser2513=) c.7260A>C (p.Ser2420=) c.6303A>C (p.Ser2101=) c.6294A>C (p.Ser2098=) | |
| 5 | g.37063849A>G | CA359520208 | NIPBL | c.7920A>G (p.Ser2640=) c.7773A>G (p.Ser2591=) c.323A>G (p.Gln108Arg) n.1802A>G c.1-729A>G (n.1-729A>G) c.7176A>G (p.Ser2392=) c.7722A>G (p.Ser2574=) c.7539A>G (p.Ser2513=) c.7260A>G (p.Ser2420=) c.6303A>G (p.Ser2101=) c.6294A>G (p.Ser2098=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37063849A>T | CA359520209 | NIPBL | c.7920A>T (p.Ser2640=) c.7773A>T (p.Ser2591=) c.323A>T (p.Gln108Leu) n.1802A>T c.1-729A>T (n.1-729A>T) c.7176A>T (p.Ser2392=) c.7722A>T (p.Ser2574=) c.7539A>T (p.Ser2513=) c.7260A>T (p.Ser2420=) c.6303A>T (p.Ser2101=) c.6294A>T (p.Ser2098=) | dbSNP |
| 5 | g.37063850G>A | CA359520210 | NIPBL | c.7921G>A (p.Ala2641Thr) c.7774G>A (p.Ala2592Thr) c.324G>A (p.Gln108=) n.1803G>A c.1-728G>A (n.1-728G>A) c.7177G>A (p.Ala2393Thr) c.7723G>A (p.Ala2575Thr) c.7540G>A (p.Ala2514Thr) c.7261G>A (p.Ala2421Thr) c.6304G>A (p.Ala2102Thr) c.6295G>A (p.Ala2099Thr) | |
| 5 | g.37063850G>C | CA359520211 | NIPBL | c.7921G>C (p.Ala2641Pro) c.7774G>C (p.Ala2592Pro) c.324G>C (p.Gln108His) n.1803G>C c.1-728G>C (n.1-728G>C) c.7177G>C (p.Ala2393Pro) c.7723G>C (p.Ala2575Pro) c.7540G>C (p.Ala2514Pro) c.7261G>C (p.Ala2421Pro) c.6304G>C (p.Ala2102Pro) c.6295G>C (p.Ala2099Pro) | |
| 5 | g.37063850G>T | CA359520212 | NIPBL | c.7921G>T (p.Ala2641Ser) c.7774G>T (p.Ala2592Ser) c.324G>T (p.Gln108His) n.1803G>T c.1-728G>T (n.1-728G>T) c.7177G>T (p.Ala2393Ser) c.7723G>T (p.Ala2575Ser) c.7540G>T (p.Ala2514Ser) c.7261G>T (p.Ala2421Ser) c.6304G>T (p.Ala2102Ser) c.6295G>T (p.Ala2099Ser) | |
| 5 | g.37063851C>A | CA359520213 | NIPBL | c.7922C>A (p.Ala2641Asp) c.7775C>A (p.Ala2592Asp) c.325C>A (p.Leu109Ile) n.1804C>A c.1-727C>A (n.1-727C>A) c.7178C>A (p.Ala2393Asp) c.7724C>A (p.Ala2575Asp) c.7541C>A (p.Ala2514Asp) c.7262C>A (p.Ala2421Asp) c.6305C>A (p.Ala2102Asp) c.6296C>A (p.Ala2099Asp) | |
| 5 | g.37063851C>G | CA359520215 | NIPBL | c.7922C>G (p.Ala2641Gly) c.7775C>G (p.Ala2592Gly) c.325C>G (p.Leu109Val) n.1804C>G c.1-727C>G (n.1-727C>G) c.7178C>G (p.Ala2393Gly) c.7724C>G (p.Ala2575Gly) c.7541C>G (p.Ala2514Gly) c.7262C>G (p.Ala2421Gly) c.6305C>G (p.Ala2102Gly) c.6296C>G (p.Ala2099Gly) | |
| 5 | g.37063851C>T | CA359520216 | NIPBL | c.7922C>T (p.Ala2641Val) c.7775C>T (p.Ala2592Val) c.325C>T (p.Leu109=) n.1804C>T c.1-727C>T (n.1-727C>T) c.7178C>T (p.Ala2393Val) c.7724C>T (p.Ala2575Val) c.7541C>T (p.Ala2514Val) c.7262C>T (p.Ala2421Val) c.6305C>T (p.Ala2102Val) c.6296C>T (p.Ala2099Val) | |
| 5 | g.37063852T>A | CA359520218 | NIPBL | c.7923T>A (p.Ala2641=) c.7776T>A (p.Ala2592=) c.326T>A (p.Leu109Gln) n.1805T>A c.1-726T>A (n.1-726T>A) c.7179T>A (p.Ala2393=) c.7725T>A (p.Ala2575=) c.7542T>A (p.Ala2514=) c.7263T>A (p.Ala2421=) c.6306T>A (p.Ala2102=) c.6297T>A (p.Ala2099=) | |
| 5 | g.37063852T>C | CA359520220 | NIPBL | c.7923T>C (p.Ala2641=) c.7776T>C (p.Ala2592=) c.326T>C (p.Leu109Pro) n.1805T>C c.1-726T>C (n.1-726T>C) c.7179T>C (p.Ala2393=) c.7725T>C (p.Ala2575=) c.7542T>C (p.Ala2514=) c.7263T>C (p.Ala2421=) c.6306T>C (p.Ala2102=) c.6297T>C (p.Ala2099=) | |
| 5 | g.37063852T>G | CA359520222 | NIPBL | c.7923T>G (p.Ala2641=) c.7776T>G (p.Ala2592=) c.326T>G (p.Leu109Arg) n.1805T>G c.1-726T>G (n.1-726T>G) c.7179T>G (p.Ala2393=) c.7725T>G (p.Ala2575=) c.7542T>G (p.Ala2514=) c.7263T>G (p.Ala2421=) c.6306T>G (p.Ala2102=) c.6297T>G (p.Ala2099=) | |
| 5 | g.37063853A= | CA1539588687 | NIPBL | c.7924A= (p.Ser2642=) c.7777A= (p.Ser2593=) c.327A= (p.Leu109=) n.1806A= c.1-725A= (n.1-725A=) c.7180A= (p.Ser2394=) c.7726A= (p.Ser2576=) c.7543A= (p.Ser2515=) c.7264A= (p.Ser2422=) c.6307A= (p.Ser2103=) c.6298A= (p.Ser2100=) | |
| 5 | g.37063853A>C | CA359520228 | NIPBL | c.7924A>C (p.Ser2642Arg) c.7777A>C (p.Ser2593Arg) c.327A>C (p.Leu109=) n.1806A>C c.1-725A>C (n.1-725A>C) c.7180A>C (p.Ser2394Arg) c.7726A>C (p.Ser2576Arg) c.7543A>C (p.Ser2515Arg) c.7264A>C (p.Ser2422Arg) c.6307A>C (p.Ser2103Arg) c.6298A>C (p.Ser2100Arg) | |
| 5 | g.37063853A>G | CA3237303 | NIPBL | c.7924A>G (p.Ser2642Gly) c.7777A>G (p.Ser2593Gly) c.327A>G (p.Leu109=) n.1806A>G c.1-725A>G (n.1-725A>G) c.7180A>G (p.Ser2394Gly) c.7726A>G (p.Ser2576Gly) c.7543A>G (p.Ser2515Gly) c.7264A>G (p.Ser2422Gly) c.6307A>G (p.Ser2103Gly) c.6298A>G (p.Ser2100Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37063853A>T | CA359520225 | NIPBL | c.7924A>T (p.Ser2642Cys) c.7777A>T (p.Ser2593Cys) c.327A>T (p.Leu109=) n.1806A>T c.1-725A>T (n.1-725A>T) c.7180A>T (p.Ser2394Cys) c.7726A>T (p.Ser2576Cys) c.7543A>T (p.Ser2515Cys) c.7264A>T (p.Ser2422Cys) c.6307A>T (p.Ser2103Cys) c.6298A>T (p.Ser2100Cys) | |
| 5 | g.37063854G>A | CA3237304 | NIPBL | c.7925G>A (p.Ser2642Asn) c.7778G>A (p.Ser2593Asn) c.328G>A (p.Ala110Thr) n.1807G>A c.1-724G>A (n.1-724G>A) c.7181G>A (p.Ser2394Asn) c.7727G>A (p.Ser2576Asn) c.7544G>A (p.Ser2515Asn) c.7265G>A (p.Ser2422Asn) c.6308G>A (p.Ser2103Asn) c.6299G>A (p.Ser2100Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.37063854G>C | CA359520233 | NIPBL | c.7925G>C (p.Ser2642Thr) c.7778G>C (p.Ser2593Thr) c.328G>C (p.Ala110Pro) n.1807G>C c.1-724G>C (n.1-724G>C) c.7181G>C (p.Ser2394Thr) c.7727G>C (p.Ser2576Thr) c.7544G>C (p.Ser2515Thr) c.7265G>C (p.Ser2422Thr) c.6308G>C (p.Ser2103Thr) c.6299G>C (p.Ser2100Thr) | |
| 5 | g.37063854G= | CA1539588691 | NIPBL | c.7925G= (p.Ser2642=) c.7778G= (p.Ser2593=) c.328G= (p.Ala110=) n.1807G= c.1-724G= (n.1-724G=) c.7181G= (p.Ser2394=) c.7727G= (p.Ser2576=) c.7544G= (p.Ser2515=) c.7265G= (p.Ser2422=) c.6308G= (p.Ser2103=) c.6299G= (p.Ser2100=) | |
| 5 | g.37063854G>T | CA359520231 | NIPBL | c.7925G>T (p.Ser2642Ile) c.7778G>T (p.Ser2593Ile) c.328G>T (p.Ala110Ser) n.1807G>T c.1-724G>T (n.1-724G>T) c.7181G>T (p.Ser2394Ile) c.7727G>T (p.Ser2576Ile) c.7544G>T (p.Ser2515Ile) c.7265G>T (p.Ser2422Ile) c.6308G>T (p.Ser2103Ile) c.6299G>T (p.Ser2100Ile) | |
| 5 | g.37063855C>A | CA359520235 | NIPBL | c.7926C>A (p.Ser2642Arg) c.7779C>A (p.Ser2593Arg) c.329C>A (p.Ala110Glu) n.1808C>A c.1-723C>A (n.1-723C>A) c.7182C>A (p.Ser2394Arg) c.7728C>A (p.Ser2576Arg) c.7545C>A (p.Ser2515Arg) c.7266C>A (p.Ser2422Arg) c.6309C>A (p.Ser2103Arg) c.6300C>A (p.Ser2100Arg) | |
| 5 | g.37063855C>G | CA359520237 | NIPBL | c.7926C>G (p.Ser2642Arg) c.7779C>G (p.Ser2593Arg) c.329C>G (p.Ala110Gly) n.1808C>G c.1-723C>G (n.1-723C>G) c.7182C>G (p.Ser2394Arg) c.7728C>G (p.Ser2576Arg) c.7545C>G (p.Ser2515Arg) c.7266C>G (p.Ser2422Arg) c.6309C>G (p.Ser2103Arg) c.6300C>G (p.Ser2100Arg) | |
| 5 | g.37063855C>T | CA359520239 | NIPBL | c.7926C>T (p.Ser2642=) c.7779C>T (p.Ser2593=) c.329C>T (p.Ala110Val) n.1808C>T c.1-723C>T (n.1-723C>T) c.7182C>T (p.Ser2394=) c.7728C>T (p.Ser2576=) c.7545C>T (p.Ser2515=) c.7266C>T (p.Ser2422=) c.6309C>T (p.Ser2103=) c.6300C>T (p.Ser2100=) |