WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37000846_37000855del | CA2673574834 | NIPBL | c.3532_3541del (p.Gln1178GlyfsTer8) c.1-63732_1-63723del (n.1-63732_1-63723del) c.2788_2797del (p.Gln930GlyfsTer8) c.3334_3343del (p.Gln1112GlyfsTer8) c.3151_3160del (p.Gln1051GlyfsTer8) c.2872_2881del (p.Gln958GlyfsTer8) c.1915_1924del (p.Gln639GlyfsTer8) c.1906_1915del (p.Gln636GlyfsTer8) | gnomAD v4 |
| 5 | g.37000853A= | CA1539601342 | NIPBL | c.3539A= (p.Lys1180=) c.1-63725A= (n.1-63725A=) c.2795A= (p.Lys932=) c.3341A= (p.Lys1114=) c.3158A= (p.Lys1053=) c.2879A= (p.Lys960=) c.1922A= (p.Lys641=) c.1913A= (p.Lys638=) | |
| 5 | g.37000853A>C | CA359518209 | NIPBL | c.3539A>C (p.Lys1180Thr) c.1-63725A>C (n.1-63725A>C) c.2795A>C (p.Lys932Thr) c.3341A>C (p.Lys1114Thr) c.3158A>C (p.Lys1053Thr) c.2879A>C (p.Lys960Thr) c.1922A>C (p.Lys641Thr) c.1913A>C (p.Lys638Thr) | |
| 5 | g.37000853A>G | CA359518218 | NIPBL | c.3539A>G (p.Lys1180Arg) c.1-63725A>G (n.1-63725A>G) c.2795A>G (p.Lys932Arg) c.3341A>G (p.Lys1114Arg) c.3158A>G (p.Lys1053Arg) c.2879A>G (p.Lys960Arg) c.1922A>G (p.Lys641Arg) c.1913A>G (p.Lys638Arg) | dbSNP |
| 5 | g.37000853A>T | CA359518222 | NIPBL | c.3539A>T (p.Lys1180Ile) c.1-63725A>T (n.1-63725A>T) c.2795A>T (p.Lys932Ile) c.3341A>T (p.Lys1114Ile) c.3158A>T (p.Lys1053Ile) c.2879A>T (p.Lys960Ile) c.1922A>T (p.Lys641Ile) c.1913A>T (p.Lys638Ile) | |
| 5 | g.37000854A>C | CA359518225 | NIPBL | c.3540A>C (p.Lys1180Asn) c.1-63724A>C (n.1-63724A>C) c.2796A>C (p.Lys932Asn) c.3342A>C (p.Lys1114Asn) c.3159A>C (p.Lys1053Asn) c.2880A>C (p.Lys960Asn) c.1923A>C (p.Lys641Asn) c.1914A>C (p.Lys638Asn) | |
| 5 | g.37000854A>G | CA443904512 | NIPBL | c.3540A>G (p.Lys1180=) c.1-63724A>G (n.1-63724A>G) c.2796A>G (p.Lys932=) c.3342A>G (p.Lys1114=) c.3159A>G (p.Lys1053=) c.2880A>G (p.Lys960=) c.1923A>G (p.Lys641=) c.1914A>G (p.Lys638=) | ClinVar |
| 5 | g.37000854A>T | CA359518228 | NIPBL | c.3540A>T (p.Lys1180Asn) c.1-63724A>T (n.1-63724A>T) c.2796A>T (p.Lys932Asn) c.3342A>T (p.Lys1114Asn) c.3159A>T (p.Lys1053Asn) c.2880A>T (p.Lys960Asn) c.1923A>T (p.Lys641Asn) c.1914A>T (p.Lys638Asn) | |
| 5 | g.37000855A= | CA1539601347 | NIPBL | c.3541A= (p.Arg1181=) c.1-63723A= (n.1-63723A=) c.2797A= (p.Arg933=) c.3343A= (p.Arg1115=) c.3160A= (p.Arg1054=) c.2881A= (p.Arg961=) c.1924A= (p.Arg642=) c.1915A= (p.Arg639=) | |
| 5 | g.37000855A>C | CA172685 | NIPBL | c.3541A>C (p.Arg1181=) c.1-63723A>C (n.1-63723A>C) c.2797A>C (p.Arg933=) c.3343A>C (p.Arg1115=) c.3160A>C (p.Arg1054=) c.2881A>C (p.Arg961=) c.1924A>C (p.Arg642=) c.1915A>C (p.Arg639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37000855A>G | CA359518232 | NIPBL | c.3541A>G (p.Arg1181Gly) c.1-63723A>G (n.1-63723A>G) c.2797A>G (p.Arg933Gly) c.3343A>G (p.Arg1115Gly) c.3160A>G (p.Arg1054Gly) c.2881A>G (p.Arg961Gly) c.1924A>G (p.Arg642Gly) c.1915A>G (p.Arg639Gly) | |
| 5 | g.37000855A>T | CA359518240 | NIPBL | c.3541A>T (p.Arg1181Trp) c.1-63723A>T (n.1-63723A>T) c.2797A>T (p.Arg933Trp) c.3343A>T (p.Arg1115Trp) c.3160A>T (p.Arg1054Trp) c.2881A>T (p.Arg961Trp) c.1924A>T (p.Arg642Trp) c.1915A>T (p.Arg639Trp) | |
| 5 | g.37000856G>A | CA3236364 | NIPBL | c.3542G>A (p.Arg1181Lys) c.1-63722G>A (n.1-63722G>A) c.2798G>A (p.Arg933Lys) c.3344G>A (p.Arg1115Lys) c.3161G>A (p.Arg1054Lys) c.2882G>A (p.Arg961Lys) c.1925G>A (p.Arg642Lys) c.1916G>A (p.Arg639Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37000856G>C | CA359518248 | NIPBL | c.3542G>C (p.Arg1181Thr) c.1-63722G>C (n.1-63722G>C) c.2798G>C (p.Arg933Thr) c.3344G>C (p.Arg1115Thr) c.3161G>C (p.Arg1054Thr) c.2882G>C (p.Arg961Thr) c.1925G>C (p.Arg642Thr) c.1916G>C (p.Arg639Thr) | |
| 5 | g.37000856G= | CA1539601352 | NIPBL | c.3542G= (p.Arg1181=) c.1-63722G= (n.1-63722G=) c.2798G= (p.Arg933=) c.3344G= (p.Arg1115=) c.3161G= (p.Arg1054=) c.2882G= (p.Arg961=) c.1925G= (p.Arg642=) c.1916G= (p.Arg639=) | |
| 5 | g.37000856G>T | CA359518255 | NIPBL | c.3542G>T (p.Arg1181Met) c.1-63722G>T (n.1-63722G>T) c.2798G>T (p.Arg933Met) c.3344G>T (p.Arg1115Met) c.3161G>T (p.Arg1054Met) c.2882G>T (p.Arg961Met) c.1925G>T (p.Arg642Met) c.1916G>T (p.Arg639Met) | gnomAD v4 |
| 5 | g.37000857G>A | CA443904516 | NIPBL | c.3543G>A (p.Arg1181=) c.1-63721G>A (n.1-63721G>A) c.2799G>A (p.Arg933=) c.3345G>A (p.Arg1115=) c.3162G>A (p.Arg1054=) c.2883G>A (p.Arg961=) c.1926G>A (p.Arg642=) c.1917G>A (p.Arg639=) | dbSNP |
| 5 | g.37000857G>C | CA359518258 | NIPBL | c.3543G>C (p.Arg1181Ser) c.1-63721G>C (n.1-63721G>C) c.2799G>C (p.Arg933Ser) c.3345G>C (p.Arg1115Ser) c.3162G>C (p.Arg1054Ser) c.2883G>C (p.Arg961Ser) c.1926G>C (p.Arg642Ser) c.1917G>C (p.Arg639Ser) | |
| 5 | g.37000857G= | CA1539601355 | NIPBL | c.3543G= (p.Arg1181=) c.1-63721G= (n.1-63721G=) c.2799G= (p.Arg933=) c.3345G= (p.Arg1115=) c.3162G= (p.Arg1054=) c.2883G= (p.Arg961=) c.1926G= (p.Arg642=) c.1917G= (p.Arg639=) | |
| 5 | g.37000857G>T | CA359518260 | NIPBL | c.3543G>T (p.Arg1181Ser) c.1-63721G>T (n.1-63721G>T) c.2799G>T (p.Arg933Ser) c.3345G>T (p.Arg1115Ser) c.3162G>T (p.Arg1054Ser) c.2883G>T (p.Arg961Ser) c.1926G>T (p.Arg642Ser) c.1917G>T (p.Arg639Ser) | |
| 5 | g.37000858A>C | CA359518266 | NIPBL | c.3544A>C (p.Lys1182Gln) c.1-63720A>C (n.1-63720A>C) c.2800A>C (p.Lys934Gln) c.3346A>C (p.Lys1116Gln) c.3163A>C (p.Lys1055Gln) c.2884A>C (p.Lys962Gln) c.1927A>C (p.Lys643Gln) c.1918A>C (p.Lys640Gln) | |
| 5 | g.37000858A>G | CA359518268 | NIPBL | c.3544A>G (p.Lys1182Glu) c.1-63720A>G (n.1-63720A>G) c.2800A>G (p.Lys934Glu) c.3346A>G (p.Lys1116Glu) c.3163A>G (p.Lys1055Glu) c.2884A>G (p.Lys962Glu) c.1927A>G (p.Lys643Glu) c.1918A>G (p.Lys640Glu) | |
| 5 | g.37000858A>T | CA359518270 | NIPBL | c.3544A>T (p.Lys1182Ter) c.1-63720A>T (n.1-63720A>T) c.2800A>T (p.Lys934Ter) c.3346A>T (p.Lys1116Ter) c.3163A>T (p.Lys1055Ter) c.2884A>T (p.Lys962Ter) c.1927A>T (p.Lys643Ter) c.1918A>T (p.Lys640Ter) | |
| 5 | g.37000860dup | CA2673574835 | NIPBL | c.3546dup (p.Ala1183SerfsTer3) c.1-63718dup (n.1-63718dup) c.2802dup (p.Ala935SerfsTer3) c.3348dup (p.Ala1117SerfsTer3) c.3165dup (p.Ala1056SerfsTer3) c.2886dup (p.Ala963SerfsTer3) c.1929dup (p.Ala644SerfsTer3) c.1920dup (p.Ala641SerfsTer3) | gnomAD v4 |
| 5 | g.37000859A>C | CA359518280 | NIPBL | c.3545A>C (p.Lys1182Thr) c.1-63719A>C (n.1-63719A>C) c.2801A>C (p.Lys934Thr) c.3347A>C (p.Lys1116Thr) c.3164A>C (p.Lys1055Thr) c.2885A>C (p.Lys962Thr) c.1928A>C (p.Lys643Thr) c.1919A>C (p.Lys640Thr) | |
| 5 | g.37000859A>G | CA359518283 | NIPBL | c.3545A>G (p.Lys1182Arg) c.1-63719A>G (n.1-63719A>G) c.2801A>G (p.Lys934Arg) c.3347A>G (p.Lys1116Arg) c.3164A>G (p.Lys1055Arg) c.2885A>G (p.Lys962Arg) c.1928A>G (p.Lys643Arg) c.1919A>G (p.Lys640Arg) | |
| 5 | g.37000859A>T | CA359518286 | NIPBL | c.3545A>T (p.Lys1182Ile) c.1-63719A>T (n.1-63719A>T) c.2801A>T (p.Lys934Ile) c.3347A>T (p.Lys1116Ile) c.3164A>T (p.Lys1055Ile) c.2885A>T (p.Lys962Ile) c.1928A>T (p.Lys643Ile) c.1919A>T (p.Lys640Ile) | gnomAD v4 |
| 5 | g.37000860A>C | CA359518292 | NIPBL | c.3546A>C (p.Lys1182Asn) c.1-63718A>C (n.1-63718A>C) c.2802A>C (p.Lys934Asn) c.3348A>C (p.Lys1116Asn) c.3165A>C (p.Lys1055Asn) c.2886A>C (p.Lys962Asn) c.1929A>C (p.Lys643Asn) c.1920A>C (p.Lys640Asn) | |
| 5 | g.37000860A>G | CA443904519 | NIPBL | c.3546A>G (p.Lys1182=) c.1-63718A>G (n.1-63718A>G) c.2802A>G (p.Lys934=) c.3348A>G (p.Lys1116=) c.3165A>G (p.Lys1055=) c.2886A>G (p.Lys962=) c.1929A>G (p.Lys643=) c.1920A>G (p.Lys640=) | gnomAD v4 |
| 5 | g.37000860A>T | CA359518289 | NIPBL | c.3546A>T (p.Lys1182Asn) c.1-63718A>T (n.1-63718A>T) c.2802A>T (p.Lys934Asn) c.3348A>T (p.Lys1116Asn) c.3165A>T (p.Lys1055Asn) c.2886A>T (p.Lys962Asn) c.1929A>T (p.Lys643Asn) c.1920A>T (p.Lys640Asn) | |
| 5 | g.37000861G>A | CA359518294 | NIPBL | c.3547G>A (p.Ala1183Thr) c.1-63717G>A (n.1-63717G>A) c.2803G>A (p.Ala935Thr) c.3349G>A (p.Ala1117Thr) c.3166G>A (p.Ala1056Thr) c.2887G>A (p.Ala963Thr) c.1930G>A (p.Ala644Thr) c.1921G>A (p.Ala641Thr) | |
| 5 | g.37000861G>C | CA359518297 | NIPBL | c.3547G>C (p.Ala1183Pro) c.1-63717G>C (n.1-63717G>C) c.2803G>C (p.Ala935Pro) c.3349G>C (p.Ala1117Pro) c.3166G>C (p.Ala1056Pro) c.2887G>C (p.Ala963Pro) c.1930G>C (p.Ala644Pro) c.1921G>C (p.Ala641Pro) | |
| 5 | g.37000861G>T | CA359518299 | NIPBL | c.3547G>T (p.Ala1183Ser) c.1-63717G>T (n.1-63717G>T) c.2803G>T (p.Ala935Ser) c.3349G>T (p.Ala1117Ser) c.3166G>T (p.Ala1056Ser) c.2887G>T (p.Ala963Ser) c.1930G>T (p.Ala644Ser) c.1921G>T (p.Ala641Ser) | |
| 5 | g.37000862C>A | CA359518301 | NIPBL | c.3548C>A (p.Ala1183Glu) c.1-63716C>A (n.1-63716C>A) c.2804C>A (p.Ala935Glu) c.3350C>A (p.Ala1117Glu) c.3167C>A (p.Ala1056Glu) c.2888C>A (p.Ala963Glu) c.1931C>A (p.Ala644Glu) c.1922C>A (p.Ala641Glu) | |
| 5 | g.37000862C= | CA1539601359 | NIPBL | c.3548C= (p.Ala1183=) c.1-63716C= (n.1-63716C=) c.2804C= (p.Ala935=) c.3350C= (p.Ala1117=) c.3167C= (p.Ala1056=) c.2888C= (p.Ala963=) c.1931C= (p.Ala644=) c.1922C= (p.Ala641=) | |
| 5 | g.37000862C>G | CA117056434 | NIPBL | c.3548C>G (p.Ala1183Gly) c.1-63716C>G (n.1-63716C>G) c.2804C>G (p.Ala935Gly) c.3350C>G (p.Ala1117Gly) c.3167C>G (p.Ala1056Gly) c.2888C>G (p.Ala963Gly) c.1931C>G (p.Ala644Gly) c.1922C>G (p.Ala641Gly) | dbSNP gnomAD v4 |
| 5 | g.37000862C>T | CA359518305 | NIPBL | c.3548C>T (p.Ala1183Val) c.1-63716C>T (n.1-63716C>T) c.2804C>T (p.Ala935Val) c.3350C>T (p.Ala1117Val) c.3167C>T (p.Ala1056Val) c.2888C>T (p.Ala963Val) c.1931C>T (p.Ala644Val) c.1922C>T (p.Ala641Val) | ClinVar dbSNP |
| 5 | g.37000863A>C | CA443904521 | NIPBL | c.3549A>C (p.Ala1183=) c.1-63715A>C (n.1-63715A>C) c.2805A>C (p.Ala935=) c.3351A>C (p.Ala1117=) c.3168A>C (p.Ala1056=) c.2889A>C (p.Ala963=) c.1932A>C (p.Ala644=) c.1923A>C (p.Ala641=) | |
| 5 | g.37000863A>G | CA443904522 | NIPBL | c.3549A>G (p.Ala1183=) c.1-63715A>G (n.1-63715A>G) c.2805A>G (p.Ala935=) c.3351A>G (p.Ala1117=) c.3168A>G (p.Ala1056=) c.2889A>G (p.Ala963=) c.1932A>G (p.Ala644=) c.1923A>G (p.Ala641=) | gnomAD v4 |
| 5 | g.37000863A>T | CA443904524 | NIPBL | c.3549A>T (p.Ala1183=) c.1-63715A>T (n.1-63715A>T) c.2805A>T (p.Ala935=) c.3351A>T (p.Ala1117=) c.3168A>T (p.Ala1056=) c.2889A>T (p.Ala963=) c.1932A>T (p.Ala644=) c.1923A>T (p.Ala641=) | |
| 5 | g.37000864T>A | CA359518313 | NIPBL | c.3550T>A (p.Tyr1184Asn) c.1-63714T>A (n.1-63714T>A) c.2806T>A (p.Tyr936Asn) c.3352T>A (p.Tyr1118Asn) c.3169T>A (p.Tyr1057Asn) c.2890T>A (p.Tyr964Asn) c.1933T>A (p.Tyr645Asn) c.1924T>A (p.Tyr642Asn) | |
| 5 | g.37000864T>C | CA359518309 | NIPBL | c.3550T>C (p.Tyr1184His) c.1-63714T>C (n.1-63714T>C) c.2806T>C (p.Tyr936His) c.3352T>C (p.Tyr1118His) c.3169T>C (p.Tyr1057His) c.2890T>C (p.Tyr964His) c.1933T>C (p.Tyr645His) c.1924T>C (p.Tyr642His) | |
| 5 | g.37000864T>G | CA359518310 | NIPBL | c.3550T>G (p.Tyr1184Asp) c.1-63714T>G (n.1-63714T>G) c.2806T>G (p.Tyr936Asp) c.3352T>G (p.Tyr1118Asp) c.3169T>G (p.Tyr1057Asp) c.2890T>G (p.Tyr964Asp) c.1933T>G (p.Tyr645Asp) c.1924T>G (p.Tyr642Asp) | |
| 5 | g.37000865A>C | CA359518319 | NIPBL | c.3551A>C (p.Tyr1184Ser) c.1-63713A>C (n.1-63713A>C) c.2807A>C (p.Tyr936Ser) c.3353A>C (p.Tyr1118Ser) c.3170A>C (p.Tyr1057Ser) c.2891A>C (p.Tyr964Ser) c.1934A>C (p.Tyr645Ser) c.1925A>C (p.Tyr642Ser) | |
| 5 | g.37000865A>G | CA359518323 | NIPBL | c.3551A>G (p.Tyr1184Cys) c.1-63713A>G (n.1-63713A>G) c.2807A>G (p.Tyr936Cys) c.3353A>G (p.Tyr1118Cys) c.3170A>G (p.Tyr1057Cys) c.2891A>G (p.Tyr964Cys) c.1934A>G (p.Tyr645Cys) c.1925A>G (p.Tyr642Cys) | |
| 5 | g.37000865A>T | CA359518327 | NIPBL | c.3551A>T (p.Tyr1184Phe) c.1-63713A>T (n.1-63713A>T) c.2807A>T (p.Tyr936Phe) c.3353A>T (p.Tyr1118Phe) c.3170A>T (p.Tyr1057Phe) c.2891A>T (p.Tyr964Phe) c.1934A>T (p.Tyr645Phe) c.1925A>T (p.Tyr642Phe) | |
| 5 | g.37000866T>A | CA359518330 | NIPBL | c.3552T>A (p.Tyr1184Ter) c.1-63712T>A (n.1-63712T>A) c.2808T>A (p.Tyr936Ter) c.3354T>A (p.Tyr1118Ter) c.3171T>A (p.Tyr1057Ter) c.2892T>A (p.Tyr964Ter) c.1935T>A (p.Tyr645Ter) c.1926T>A (p.Tyr642Ter) | |
| 5 | g.37000866T>C | CA443904527 | NIPBL | c.3552T>C (p.Tyr1184=) c.1-63712T>C (n.1-63712T>C) c.2808T>C (p.Tyr936=) c.3354T>C (p.Tyr1118=) c.3171T>C (p.Tyr1057=) c.2892T>C (p.Tyr964=) c.1935T>C (p.Tyr645=) c.1926T>C (p.Tyr642=) | |
| 5 | g.37000866T>G | CA359518331 | NIPBL | c.3552T>G (p.Tyr1184Ter) c.1-63712T>G (n.1-63712T>G) c.2808T>G (p.Tyr936Ter) c.3354T>G (p.Tyr1118Ter) c.3171T>G (p.Tyr1057Ter) c.2892T>G (p.Tyr964Ter) c.1935T>G (p.Tyr645Ter) c.1926T>G (p.Tyr642Ter) | |
| 5 | g.37000867G>A | CA359518332 | NIPBL | c.3553G>A (p.Glu1185Lys) c.1-63711G>A (n.1-63711G>A) c.2809G>A (p.Glu937Lys) c.3355G>A (p.Glu1119Lys) c.3172G>A (p.Glu1058Lys) c.2893G>A (p.Glu965Lys) c.1936G>A (p.Glu646Lys) c.1927G>A (p.Glu643Lys) |