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.37001036A>C | CA359519124 | NIPBL | c.3622A>C (p.Asn1208His) c.1-63542A>C (n.1-63542A>C) c.2878A>C (p.Asn960His) c.3424A>C (p.Asn1142His) c.3241A>C (p.Asn1081His) c.2962A>C (p.Asn988His) c.2005A>C (p.Asn669His) c.1996A>C (p.Asn666His) | |
| 5 | g.37001036A>G | CA359519128 | NIPBL | c.3622A>G (p.Asn1208Asp) c.1-63542A>G (n.1-63542A>G) c.2878A>G (p.Asn960Asp) c.3424A>G (p.Asn1142Asp) c.3241A>G (p.Asn1081Asp) c.2962A>G (p.Asn988Asp) c.2005A>G (p.Asn669Asp) c.1996A>G (p.Asn666Asp) | |
| 5 | g.37001036A>T | CA359519115 | NIPBL | c.3622A>T (p.Asn1208Tyr) c.1-63542A>T (n.1-63542A>T) c.2878A>T (p.Asn960Tyr) c.3424A>T (p.Asn1142Tyr) c.3241A>T (p.Asn1081Tyr) c.2962A>T (p.Asn988Tyr) c.2005A>T (p.Asn669Tyr) c.1996A>T (p.Asn666Tyr) | |
| 5 | g.37001037A>C | CA359519137 | NIPBL | c.3623A>C (p.Asn1208Thr) c.1-63541A>C (n.1-63541A>C) c.2879A>C (p.Asn960Thr) c.3425A>C (p.Asn1142Thr) c.3242A>C (p.Asn1081Thr) c.2963A>C (p.Asn988Thr) c.2006A>C (p.Asn669Thr) c.1997A>C (p.Asn666Thr) | |
| 5 | g.37001037A>G | CA359519144 | NIPBL | c.3623A>G (p.Asn1208Ser) c.1-63541A>G (n.1-63541A>G) c.2879A>G (p.Asn960Ser) c.3425A>G (p.Asn1142Ser) c.3242A>G (p.Asn1081Ser) c.2963A>G (p.Asn988Ser) c.2006A>G (p.Asn669Ser) c.1997A>G (p.Asn666Ser) | |
| 5 | g.37001037A>T | CA359519140 | NIPBL | c.3623A>T (p.Asn1208Ile) c.1-63541A>T (n.1-63541A>T) c.2879A>T (p.Asn960Ile) c.3425A>T (p.Asn1142Ile) c.3242A>T (p.Asn1081Ile) c.2963A>T (p.Asn988Ile) c.2006A>T (p.Asn669Ile) c.1997A>T (p.Asn666Ile) | |
| 5 | g.37001038T>A | CA359519150 | NIPBL | c.3624T>A (p.Asn1208Lys) c.1-63540T>A (n.1-63540T>A) c.2880T>A (p.Asn960Lys) c.3426T>A (p.Asn1142Lys) c.3243T>A (p.Asn1081Lys) c.2964T>A (p.Asn988Lys) c.2007T>A (p.Asn669Lys) c.1998T>A (p.Asn666Lys) | |
| 5 | g.37001038T>C | CA443904573 | NIPBL | c.3624T>C (p.Asn1208=) c.1-63540T>C (n.1-63540T>C) c.2880T>C (p.Asn960=) c.3426T>C (p.Asn1142=) c.3243T>C (p.Asn1081=) c.2964T>C (p.Asn988=) c.2007T>C (p.Asn669=) c.1998T>C (p.Asn666=) | |
| 5 | g.37001038T>G | CA359519152 | NIPBL | c.3624T>G (p.Asn1208Lys) c.1-63540T>G (n.1-63540T>G) c.2880T>G (p.Asn960Lys) c.3426T>G (p.Asn1142Lys) c.3243T>G (p.Asn1081Lys) c.2964T>G (p.Asn988Lys) c.2007T>G (p.Asn669Lys) c.1998T>G (p.Asn666Lys) | |
| 5 | g.37001039A>C | CA359519164 | NIPBL | c.3625A>C (p.Ile1209Leu) c.1-63539A>C (n.1-63539A>C) c.2881A>C (p.Ile961Leu) c.3427A>C (p.Ile1143Leu) c.3244A>C (p.Ile1082Leu) c.2965A>C (p.Ile989Leu) c.2008A>C (p.Ile670Leu) c.1999A>C (p.Ile667Leu) | |
| 5 | g.37001039A>G | CA359519169 | NIPBL | c.3625A>G (p.Ile1209Val) c.1-63539A>G (n.1-63539A>G) c.2881A>G (p.Ile961Val) c.3427A>G (p.Ile1143Val) c.3244A>G (p.Ile1082Val) c.2965A>G (p.Ile989Val) c.2008A>G (p.Ile670Val) c.1999A>G (p.Ile667Val) | COSMIC COSMIC |
| 5 | g.37001039A>T | CA359519174 | NIPBL | c.3625A>T (p.Ile1209Phe) c.1-63539A>T (n.1-63539A>T) c.2881A>T (p.Ile961Phe) c.3427A>T (p.Ile1143Phe) c.3244A>T (p.Ile1082Phe) c.2965A>T (p.Ile989Phe) c.2008A>T (p.Ile670Phe) c.1999A>T (p.Ile667Phe) | |
| 5 | g.37001040T>A | CA359519175 | NIPBL | c.3626T>A (p.Ile1209Asn) c.1-63538T>A (n.1-63538T>A) c.2882T>A (p.Ile961Asn) c.3428T>A (p.Ile1143Asn) c.3245T>A (p.Ile1082Asn) c.2966T>A (p.Ile989Asn) c.2009T>A (p.Ile670Asn) c.2000T>A (p.Ile667Asn) | |
| 5 | g.37001040T>C | CA359519177 | NIPBL | c.3626T>C (p.Ile1209Thr) c.1-63538T>C (n.1-63538T>C) c.2882T>C (p.Ile961Thr) c.3428T>C (p.Ile1143Thr) c.3245T>C (p.Ile1082Thr) c.2966T>C (p.Ile989Thr) c.2009T>C (p.Ile670Thr) c.2000T>C (p.Ile667Thr) | |
| 5 | g.37001040T>G | CA359519181 | NIPBL | c.3626T>G (p.Ile1209Ser) c.1-63538T>G (n.1-63538T>G) c.2882T>G (p.Ile961Ser) c.3428T>G (p.Ile1143Ser) c.3245T>G (p.Ile1082Ser) c.2966T>G (p.Ile989Ser) c.2009T>G (p.Ile670Ser) c.2000T>G (p.Ile667Ser) | |
| 5 | g.37001041T>A | CA443904574 | NIPBL | c.3627T>A (p.Ile1209=) c.1-63537T>A (n.1-63537T>A) c.2883T>A (p.Ile961=) c.3429T>A (p.Ile1143=) c.3246T>A (p.Ile1082=) c.2967T>A (p.Ile989=) c.2010T>A (p.Ile670=) c.2001T>A (p.Ile667=) | |
| 5 | g.37001041T>C | CA443904575 | NIPBL | c.3627T>C (p.Ile1209=) c.1-63537T>C (n.1-63537T>C) c.2883T>C (p.Ile961=) c.3429T>C (p.Ile1143=) c.3246T>C (p.Ile1082=) c.2967T>C (p.Ile989=) c.2010T>C (p.Ile670=) c.2001T>C (p.Ile667=) | |
| 5 | g.37001041T>G | CA359519192 | NIPBL | c.3627T>G (p.Ile1209Met) c.1-63537T>G (n.1-63537T>G) c.2883T>G (p.Ile961Met) c.3429T>G (p.Ile1143Met) c.3246T>G (p.Ile1082Met) c.2967T>G (p.Ile989Met) c.2010T>G (p.Ile670Met) c.2001T>G (p.Ile667Met) | |
| 5 | g.37001042T>A | CA359519198 | NIPBL | c.3628T>A (p.Leu1210Met) c.1-63536T>A (n.1-63536T>A) c.2884T>A (p.Leu962Met) c.3430T>A (p.Leu1144Met) c.3247T>A (p.Leu1083Met) c.2968T>A (p.Leu990Met) c.2011T>A (p.Leu671Met) c.2002T>A (p.Leu668Met) | |
| 5 | g.37001042T>C | CA443904576 | NIPBL | c.3628T>C (p.Leu1210=) c.1-63536T>C (n.1-63536T>C) c.2884T>C (p.Leu962=) c.3430T>C (p.Leu1144=) c.3247T>C (p.Leu1083=) c.2968T>C (p.Leu990=) c.2011T>C (p.Leu671=) c.2002T>C (p.Leu668=) | |
| 5 | g.37001042T>G | CA359519208 | NIPBL | c.3628T>G (p.Leu1210Val) c.1-63536T>G (n.1-63536T>G) c.2884T>G (p.Leu962Val) c.3430T>G (p.Leu1144Val) c.3247T>G (p.Leu1083Val) c.2968T>G (p.Leu990Val) c.2011T>G (p.Leu671Val) c.2002T>G (p.Leu668Val) | |
| 5 | g.37001043T>A | CA359519241 | NIPBL | c.3629T>A (p.Leu1210Ter) c.1-63535T>A (n.1-63535T>A) c.2885T>A (p.Leu962Ter) c.3431T>A (p.Leu1144Ter) c.3248T>A (p.Leu1083Ter) c.2969T>A (p.Leu990Ter) c.2012T>A (p.Leu671Ter) c.2003T>A (p.Leu668Ter) | |
| 5 | g.37001043T>C | CA359519220 | NIPBL | c.3629T>C (p.Leu1210Ser) c.1-63535T>C (n.1-63535T>C) c.2885T>C (p.Leu962Ser) c.3431T>C (p.Leu1144Ser) c.3248T>C (p.Leu1083Ser) c.2969T>C (p.Leu990Ser) c.2012T>C (p.Leu671Ser) c.2003T>C (p.Leu668Ser) | |
| 5 | g.37001043T>G | CA359519215 | NIPBL | c.3629T>G (p.Leu1210Trp) c.1-63535T>G (n.1-63535T>G) c.2885T>G (p.Leu962Trp) c.3431T>G (p.Leu1144Trp) c.3248T>G (p.Leu1083Trp) c.2969T>G (p.Leu990Trp) c.2012T>G (p.Leu671Trp) c.2003T>G (p.Leu668Trp) | gnomAD v4 |
| 5 | g.37001044G>A | CA3236392 | NIPBL | c.3630G>A (p.Leu1210=) c.1-63534G>A (n.1-63534G>A) c.2886G>A (p.Leu962=) c.3432G>A (p.Leu1144=) c.3249G>A (p.Leu1083=) c.2970G>A (p.Leu990=) c.2013G>A (p.Leu671=) c.2004G>A (p.Leu668=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001044G>C | CA359519251 | NIPBL | c.3630G>C (p.Leu1210Phe) c.1-63534G>C (n.1-63534G>C) c.2886G>C (p.Leu962Phe) c.3432G>C (p.Leu1144Phe) c.3249G>C (p.Leu1083Phe) c.2970G>C (p.Leu990Phe) c.2013G>C (p.Leu671Phe) c.2004G>C (p.Leu668Phe) | |
| 5 | g.37001044G= | CA1539601608 | NIPBL | c.3630G= (p.Leu1210=) c.1-63534G= (n.1-63534G=) c.2886G= (p.Leu962=) c.3432G= (p.Leu1144=) c.3249G= (p.Leu1083=) c.2970G= (p.Leu990=) c.2013G= (p.Leu671=) c.2004G= (p.Leu668=) | |
| 5 | g.37001044G>T | CA359519253 | NIPBL | c.3630G>T (p.Leu1210Phe) c.1-63534G>T (n.1-63534G>T) c.2886G>T (p.Leu962Phe) c.3432G>T (p.Leu1144Phe) c.3249G>T (p.Leu1083Phe) c.2970G>T (p.Leu990Phe) c.2013G>T (p.Leu671Phe) c.2004G>T (p.Leu668Phe) | |
| 5 | g.37001045G>A | CA359519254 | NIPBL | c.3631G>A (p.Asp1211Asn) c.1-63533G>A (n.1-63533G>A) c.2887G>A (p.Asp963Asn) c.3433G>A (p.Asp1145Asn) c.3250G>A (p.Asp1084Asn) c.2971G>A (p.Asp991Asn) c.2014G>A (p.Asp672Asn) c.2005G>A (p.Asp669Asn) | |
| 5 | g.37001045G>C | CA359519257 | NIPBL | c.3631G>C (p.Asp1211His) c.1-63533G>C (n.1-63533G>C) c.2887G>C (p.Asp963His) c.3433G>C (p.Asp1145His) c.3250G>C (p.Asp1084His) c.2971G>C (p.Asp991His) c.2014G>C (p.Asp672His) c.2005G>C (p.Asp669His) | |
| 5 | g.37001045G>T | CA359519266 | NIPBL | c.3631G>T (p.Asp1211Tyr) c.1-63533G>T (n.1-63533G>T) c.2887G>T (p.Asp963Tyr) c.3433G>T (p.Asp1145Tyr) c.3250G>T (p.Asp1084Tyr) c.2971G>T (p.Asp991Tyr) c.2014G>T (p.Asp672Tyr) c.2005G>T (p.Asp669Tyr) | |
| 5 | g.37001046A>C | CA359519271 | NIPBL | c.3632A>C (p.Asp1211Ala) c.1-63532A>C (n.1-63532A>C) c.2888A>C (p.Asp963Ala) c.3434A>C (p.Asp1145Ala) c.3251A>C (p.Asp1084Ala) c.2972A>C (p.Asp991Ala) c.2015A>C (p.Asp672Ala) c.2006A>C (p.Asp669Ala) | |
| 5 | g.37001046A>G | CA359519275 | NIPBL | c.3632A>G (p.Asp1211Gly) c.1-63532A>G (n.1-63532A>G) c.2888A>G (p.Asp963Gly) c.3434A>G (p.Asp1145Gly) c.3251A>G (p.Asp1084Gly) c.2972A>G (p.Asp991Gly) c.2015A>G (p.Asp672Gly) c.2006A>G (p.Asp669Gly) | gnomAD v4 |
| 5 | g.37001046A>T | CA359519285 | NIPBL | c.3632A>T (p.Asp1211Val) c.1-63532A>T (n.1-63532A>T) c.2888A>T (p.Asp963Val) c.3434A>T (p.Asp1145Val) c.3251A>T (p.Asp1084Val) c.2972A>T (p.Asp991Val) c.2015A>T (p.Asp672Val) c.2006A>T (p.Asp669Val) | gnomAD v4 |
| 5 | g.37001047T>A | CA359519289 | NIPBL | c.3633T>A (p.Asp1211Glu) c.1-63531T>A (n.1-63531T>A) c.2889T>A (p.Asp963Glu) c.3435T>A (p.Asp1145Glu) c.3252T>A (p.Asp1084Glu) c.2973T>A (p.Asp991Glu) c.2016T>A (p.Asp672Glu) c.2007T>A (p.Asp669Glu) | |
| 5 | g.37001047T>C | CA117056635 | NIPBL | c.3633T>C (p.Asp1211=) c.1-63531T>C (n.1-63531T>C) c.2889T>C (p.Asp963=) c.3435T>C (p.Asp1145=) c.3252T>C (p.Asp1084=) c.2973T>C (p.Asp991=) c.2016T>C (p.Asp672=) c.2007T>C (p.Asp669=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37001047T>G | CA359519291 | NIPBL | c.3633T>G (p.Asp1211Glu) c.1-63531T>G (n.1-63531T>G) c.2889T>G (p.Asp963Glu) c.3435T>G (p.Asp1145Glu) c.3252T>G (p.Asp1084Glu) c.2973T>G (p.Asp991Glu) c.2016T>G (p.Asp672Glu) c.2007T>G (p.Asp669Glu) | |
| 5 | g.37001047T= | CA1539601610 | NIPBL | c.3633T= (p.Asp1211=) c.1-63531T= (n.1-63531T=) c.2889T= (p.Asp963=) c.3435T= (p.Asp1145=) c.3252T= (p.Asp1084=) c.2973T= (p.Asp991=) c.2016T= (p.Asp672=) c.2007T= (p.Asp669=) | |
| 5 | g.37001048A>C | CA359519302 | NIPBL | c.3634A>C (p.Asn1212His) c.1-63530A>C (n.1-63530A>C) c.2890A>C (p.Asn964His) c.3436A>C (p.Asn1146His) c.3253A>C (p.Asn1085His) c.2974A>C (p.Asn992His) c.2017A>C (p.Asn673His) c.2008A>C (p.Asn670His) | |
| 5 | g.37001048A>G | CA359519301 | NIPBL | c.3634A>G (p.Asn1212Asp) c.1-63530A>G (n.1-63530A>G) c.2890A>G (p.Asn964Asp) c.3436A>G (p.Asn1146Asp) c.3253A>G (p.Asn1085Asp) c.2974A>G (p.Asn992Asp) c.2017A>G (p.Asn673Asp) c.2008A>G (p.Asn670Asp) | |
| 5 | g.37001048A>T | CA359519296 | NIPBL | c.3634A>T (p.Asn1212Tyr) c.1-63530A>T (n.1-63530A>T) c.2890A>T (p.Asn964Tyr) c.3436A>T (p.Asn1146Tyr) c.3253A>T (p.Asn1085Tyr) c.2974A>T (p.Asn992Tyr) c.2017A>T (p.Asn673Tyr) c.2008A>T (p.Asn670Tyr) | |
| 5 | g.37001049A>C | CA359519303 | NIPBL | c.3635A>C (p.Asn1212Thr) c.1-63529A>C (n.1-63529A>C) c.2891A>C (p.Asn964Thr) c.3437A>C (p.Asn1146Thr) c.3254A>C (p.Asn1085Thr) c.2975A>C (p.Asn992Thr) c.2018A>C (p.Asn673Thr) c.2009A>C (p.Asn670Thr) | |
| 5 | g.37001049A>G | CA359519304 | NIPBL | c.3635A>G (p.Asn1212Ser) c.1-63529A>G (n.1-63529A>G) c.2891A>G (p.Asn964Ser) c.3437A>G (p.Asn1146Ser) c.3254A>G (p.Asn1085Ser) c.2975A>G (p.Asn992Ser) c.2018A>G (p.Asn673Ser) c.2009A>G (p.Asn670Ser) | |
| 5 | g.37001049A>T | CA359519308 | NIPBL | c.3635A>T (p.Asn1212Ile) c.1-63529A>T (n.1-63529A>T) c.2891A>T (p.Asn964Ile) c.3437A>T (p.Asn1146Ile) c.3254A>T (p.Asn1085Ile) c.2975A>T (p.Asn992Ile) c.2018A>T (p.Asn673Ile) c.2009A>T (p.Asn670Ile) | |
| 5 | g.37001050T>A | CA359519318 | NIPBL | c.3636T>A (p.Asn1212Lys) c.1-63528T>A (n.1-63528T>A) c.2892T>A (p.Asn964Lys) c.3438T>A (p.Asn1146Lys) c.3255T>A (p.Asn1085Lys) c.2976T>A (p.Asn992Lys) c.2019T>A (p.Asn673Lys) c.2010T>A (p.Asn670Lys) | |
| 5 | g.37001050T>C | CA443904577 | NIPBL | c.3636T>C (p.Asn1212=) c.1-63528T>C (n.1-63528T>C) c.2892T>C (p.Asn964=) c.3438T>C (p.Asn1146=) c.3255T>C (p.Asn1085=) c.2976T>C (p.Asn992=) c.2019T>C (p.Asn673=) c.2010T>C (p.Asn670=) | |
| 5 | g.37001050T>G | CA359519327 | NIPBL | c.3636T>G (p.Asn1212Lys) c.1-63528T>G (n.1-63528T>G) c.2892T>G (p.Asn964Lys) c.3438T>G (p.Asn1146Lys) c.3255T>G (p.Asn1085Lys) c.2976T>G (p.Asn992Lys) c.2019T>G (p.Asn673Lys) c.2010T>G (p.Asn670Lys) | |
| 5 | g.37001051T>A | CA359519337 | NIPBL | c.3637T>A (p.Leu1213Met) c.1-63527T>A (n.1-63527T>A) c.2893T>A (p.Leu965Met) c.3439T>A (p.Leu1147Met) c.3256T>A (p.Leu1086Met) c.2977T>A (p.Leu993Met) c.2020T>A (p.Leu674Met) c.2011T>A (p.Leu671Met) | |
| 5 | g.37001051T>C | CA443904578 | NIPBL | c.3637T>C (p.Leu1213=) c.1-63527T>C (n.1-63527T>C) c.2893T>C (p.Leu965=) c.3439T>C (p.Leu1147=) c.3256T>C (p.Leu1086=) c.2977T>C (p.Leu993=) c.2020T>C (p.Leu674=) c.2011T>C (p.Leu671=) | dbSNP |
| 5 | g.37001051T>G | CA359519343 | NIPBL | c.3637T>G (p.Leu1213Val) c.1-63527T>G (n.1-63527T>G) c.2893T>G (p.Leu965Val) c.3439T>G (p.Leu1147Val) c.3256T>G (p.Leu1086Val) c.2977T>G (p.Leu993Val) c.2020T>G (p.Leu674Val) c.2011T>G (p.Leu671Val) |