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.37048565_37048567del | CA272255 | NIPBL | c.6653_6655del (p.Asn2218del) c.1-16013_1-16011del (n.1-16013_1-16011del) c.5909_5911del (p.Asn1970del) c.6455_6457del (p.Asn2152del) c.6272_6274del (p.Asn2091del) c.5993_5995del (p.Asn1998del) c.5036_5038del (p.Asn1679del) c.5027_5029del (p.Asn1676del) | ClinVar dbSNP |
| 5 | g.37048565A>C | CA359508142 | NIPBL | c.6653A>C (p.Asn2218Thr) c.1-16013A>C (n.1-16013A>C) c.5909A>C (p.Asn1970Thr) c.6455A>C (p.Asn2152Thr) c.6272A>C (p.Asn2091Thr) c.5993A>C (p.Asn1998Thr) c.5036A>C (p.Asn1679Thr) c.5027A>C (p.Asn1676Thr) | |
| 5 | g.37048565A>G | CA359508144 | NIPBL | c.6653A>G (p.Asn2218Ser) c.1-16013A>G (n.1-16013A>G) c.5909A>G (p.Asn1970Ser) c.6455A>G (p.Asn2152Ser) c.6272A>G (p.Asn2091Ser) c.5993A>G (p.Asn1998Ser) c.5036A>G (p.Asn1679Ser) c.5027A>G (p.Asn1676Ser) | gnomAD v4 |
| 5 | g.37048565A>T | CA359508147 | NIPBL | c.6653A>T (p.Asn2218Ile) c.1-16013A>T (n.1-16013A>T) c.5909A>T (p.Asn1970Ile) c.6455A>T (p.Asn2152Ile) c.6272A>T (p.Asn2091Ile) c.5993A>T (p.Asn1998Ile) c.5036A>T (p.Asn1679Ile) c.5027A>T (p.Asn1676Ile) | |
| 5 | g.37048566T>A | CA359508153 | NIPBL | c.6654T>A (p.Asn2218Lys) c.1-16012T>A (n.1-16012T>A) c.5910T>A (p.Asn1970Lys) c.6456T>A (p.Asn2152Lys) c.6273T>A (p.Asn2091Lys) c.5994T>A (p.Asn1998Lys) c.5037T>A (p.Asn1679Lys) c.5028T>A (p.Asn1676Lys) | |
| 5 | g.37048566T>C | CA443907109 | NIPBL | c.6654T>C (p.Asn2218=) c.1-16012T>C (n.1-16012T>C) c.5910T>C (p.Asn1970=) c.6456T>C (p.Asn2152=) c.6273T>C (p.Asn2091=) c.5994T>C (p.Asn1998=) c.5037T>C (p.Asn1679=) c.5028T>C (p.Asn1676=) | |
| 5 | g.37048566T>G | CA359508155 | NIPBL | c.6654T>G (p.Asn2218Lys) c.1-16012T>G (n.1-16012T>G) c.5910T>G (p.Asn1970Lys) c.6456T>G (p.Asn2152Lys) c.6273T>G (p.Asn2091Lys) c.5994T>G (p.Asn1998Lys) c.5037T>G (p.Asn1679Lys) c.5028T>G (p.Asn1676Lys) | |
| 5 | g.37048567A>C | CA359508158 | NIPBL | c.6655A>C (p.Ile2219Leu) c.1-16011A>C (n.1-16011A>C) c.5911A>C (p.Ile1971Leu) c.6457A>C (p.Ile2153Leu) c.6274A>C (p.Ile2092Leu) c.5995A>C (p.Ile1999Leu) c.5038A>C (p.Ile1680Leu) c.5029A>C (p.Ile1677Leu) | |
| 5 | g.37048567A>G | CA359508161 | NIPBL | c.6655A>G (p.Ile2219Val) c.1-16011A>G (n.1-16011A>G) c.5911A>G (p.Ile1971Val) c.6457A>G (p.Ile2153Val) c.6274A>G (p.Ile2092Val) c.5995A>G (p.Ile1999Val) c.5038A>G (p.Ile1680Val) c.5029A>G (p.Ile1677Val) | gnomAD v4 |
| 5 | g.37048567A>T | CA359508162 | NIPBL | c.6655A>T (p.Ile2219Phe) c.1-16011A>T (n.1-16011A>T) c.5911A>T (p.Ile1971Phe) c.6457A>T (p.Ile2153Phe) c.6274A>T (p.Ile2092Phe) c.5995A>T (p.Ile1999Phe) c.5038A>T (p.Ile1680Phe) c.5029A>T (p.Ile1677Phe) | |
| 5 | g.37048568T>A | CA359508167 | NIPBL | c.6656T>A (p.Ile2219Asn) c.1-16010T>A (n.1-16010T>A) c.5912T>A (p.Ile1971Asn) c.6458T>A (p.Ile2153Asn) c.6275T>A (p.Ile2092Asn) c.5996T>A (p.Ile1999Asn) c.5039T>A (p.Ile1680Asn) c.5030T>A (p.Ile1677Asn) | |
| 5 | g.37048568T>C | CA359508173 | NIPBL | c.6656T>C (p.Ile2219Thr) c.1-16010T>C (n.1-16010T>C) c.5912T>C (p.Ile1971Thr) c.6458T>C (p.Ile2153Thr) c.6275T>C (p.Ile2092Thr) c.5996T>C (p.Ile1999Thr) c.5039T>C (p.Ile1680Thr) c.5030T>C (p.Ile1677Thr) | gnomAD v4 |
| 5 | g.37048568T>G | CA359508169 | NIPBL | c.6656T>G (p.Ile2219Ser) c.1-16010T>G (n.1-16010T>G) c.5912T>G (p.Ile1971Ser) c.6458T>G (p.Ile2153Ser) c.6275T>G (p.Ile2092Ser) c.5996T>G (p.Ile1999Ser) c.5039T>G (p.Ile1680Ser) c.5030T>G (p.Ile1677Ser) | |
| 5 | g.37048571dup | CA443907111 | NIPBL | c.6659dup (p.Leu2220PhefsTer3) c.1-16007dup (n.1-16007dup) c.5915dup (p.Leu1972PhefsTer3) c.6461dup (p.Leu2154PhefsTer3) c.6278dup (p.Leu2093PhefsTer3) c.5999dup (p.Leu2000PhefsTer3) c.5042dup (p.Leu1681PhefsTer3) c.5033dup (p.Leu1678PhefsTer3) | COSMIC COSMIC |
| 5 | g.37048571del | CA645546378 | NIPBL | c.6659del (p.Leu2220TyrfsTer10) c.1-16007del (n.1-16007del) c.5915del (p.Leu1972TyrfsTer10) c.6461del (p.Leu2154TyrfsTer10) c.6278del (p.Leu2093TyrfsTer10) c.5999del (p.Leu2000TyrfsTer10) c.5042del (p.Leu1681TyrfsTer10) c.5033del (p.Leu1678TyrfsTer10) | COSMIC COSMIC |
| 5 | g.37048569T>A | CA443907112 | NIPBL | c.6657T>A (p.Ile2219=) c.1-16009T>A (n.1-16009T>A) c.5913T>A (p.Ile1971=) c.6459T>A (p.Ile2153=) c.6276T>A (p.Ile2092=) c.5997T>A (p.Ile1999=) c.5040T>A (p.Ile1680=) c.5031T>A (p.Ile1677=) | |
| 5 | g.37048569T>C | CA3237042 | NIPBL | c.6657T>C (p.Ile2219=) c.1-16009T>C (n.1-16009T>C) c.5913T>C (p.Ile1971=) c.6459T>C (p.Ile2153=) c.6276T>C (p.Ile2092=) c.5997T>C (p.Ile1999=) c.5040T>C (p.Ile1680=) c.5031T>C (p.Ile1677=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37048569T>G | CA359508176 | NIPBL | c.6657T>G (p.Ile2219Met) c.1-16009T>G (n.1-16009T>G) c.5913T>G (p.Ile1971Met) c.6459T>G (p.Ile2153Met) c.6276T>G (p.Ile2092Met) c.5997T>G (p.Ile1999Met) c.5040T>G (p.Ile1680Met) c.5031T>G (p.Ile1677Met) | |
| 5 | g.37048569T= | CA1539567602 | NIPBL | c.6657T= (p.Ile2219=) c.1-16009T= (n.1-16009T=) c.5913T= (p.Ile1971=) c.6459T= (p.Ile2153=) c.6276T= (p.Ile2092=) c.5997T= (p.Ile1999=) c.5040T= (p.Ile1680=) c.5031T= (p.Ile1677=) | |
| 5 | g.37048570T>A | CA359508178 | NIPBL | c.6658T>A (p.Leu2220Ile) c.1-16008T>A (n.1-16008T>A) c.5914T>A (p.Leu1972Ile) c.6460T>A (p.Leu2154Ile) c.6277T>A (p.Leu2093Ile) c.5998T>A (p.Leu2000Ile) c.5041T>A (p.Leu1681Ile) c.5032T>A (p.Leu1678Ile) | |
| 5 | g.37048570T>C | CA443907113 | NIPBL | c.6658T>C (p.Leu2220=) c.1-16008T>C (n.1-16008T>C) c.5914T>C (p.Leu1972=) c.6460T>C (p.Leu2154=) c.6277T>C (p.Leu2093=) c.5998T>C (p.Leu2000=) c.5041T>C (p.Leu1681=) c.5032T>C (p.Leu1678=) | |
| 5 | g.37048570T>G | CA359508180 | NIPBL | c.6658T>G (p.Leu2220Val) c.1-16008T>G (n.1-16008T>G) c.5914T>G (p.Leu1972Val) c.6460T>G (p.Leu2154Val) c.6277T>G (p.Leu2093Val) c.5998T>G (p.Leu2000Val) c.5041T>G (p.Leu1681Val) c.5032T>G (p.Leu1678Val) | ClinVar dbSNP |
| 5 | g.37048571T>A | CA359508183 | NIPBL | c.6659T>A (p.Leu2220Ter) c.1-16007T>A (n.1-16007T>A) c.5915T>A (p.Leu1972Ter) c.6461T>A (p.Leu2154Ter) c.6278T>A (p.Leu2093Ter) c.5999T>A (p.Leu2000Ter) c.5042T>A (p.Leu1681Ter) c.5033T>A (p.Leu1678Ter) | COSMIC COSMIC |
| 5 | g.37048571T>C | CA359508189 | NIPBL | c.6659T>C (p.Leu2220Ser) c.1-16007T>C (n.1-16007T>C) c.5915T>C (p.Leu1972Ser) c.6461T>C (p.Leu2154Ser) c.6278T>C (p.Leu2093Ser) c.5999T>C (p.Leu2000Ser) c.5042T>C (p.Leu1681Ser) c.5033T>C (p.Leu1678Ser) | gnomAD v4 |
| 5 | g.37048571T>G | CA359508191 | NIPBL | c.6659T>G (p.Leu2220Ter) c.1-16007T>G (n.1-16007T>G) c.5915T>G (p.Leu1972Ter) c.6461T>G (p.Leu2154Ter) c.6278T>G (p.Leu2093Ter) c.5999T>G (p.Leu2000Ter) c.5042T>G (p.Leu1681Ter) c.5033T>G (p.Leu1678Ter) | |
| 5 | g.37048572A>C | CA359508194 | NIPBL | c.6660A>C (p.Leu2220Phe) c.1-16006A>C (n.1-16006A>C) c.5916A>C (p.Leu1972Phe) c.6462A>C (p.Leu2154Phe) c.6279A>C (p.Leu2093Phe) c.6000A>C (p.Leu2000Phe) c.5043A>C (p.Leu1681Phe) c.5034A>C (p.Leu1678Phe) | |
| 5 | g.37048572A>G | CA443907114 | NIPBL | c.6660A>G (p.Leu2220=) c.1-16006A>G (n.1-16006A>G) c.5916A>G (p.Leu1972=) c.6462A>G (p.Leu2154=) c.6279A>G (p.Leu2093=) c.6000A>G (p.Leu2000=) c.5043A>G (p.Leu1681=) c.5034A>G (p.Leu1678=) | gnomAD v4 |
| 5 | g.37048572A>T | CA359508195 | NIPBL | c.6660A>T (p.Leu2220Phe) c.1-16006A>T (n.1-16006A>T) c.5916A>T (p.Leu1972Phe) c.6462A>T (p.Leu2154Phe) c.6279A>T (p.Leu2093Phe) c.6000A>T (p.Leu2000Phe) c.5043A>T (p.Leu1681Phe) c.5034A>T (p.Leu1678Phe) | |
| 5 | g.37048573T>A | CA359508200 | NIPBL | c.6661T>A (p.Ser2221Thr) c.1-16005T>A (n.1-16005T>A) c.5917T>A (p.Ser1973Thr) c.6463T>A (p.Ser2155Thr) c.6280T>A (p.Ser2094Thr) c.6001T>A (p.Ser2001Thr) c.5044T>A (p.Ser1682Thr) c.5035T>A (p.Ser1679Thr) | |
| 5 | g.37048573T>C | CA359508198 | NIPBL | c.6661T>C (p.Ser2221Pro) c.1-16005T>C (n.1-16005T>C) c.5917T>C (p.Ser1973Pro) c.6463T>C (p.Ser2155Pro) c.6280T>C (p.Ser2094Pro) c.6001T>C (p.Ser2001Pro) c.5044T>C (p.Ser1682Pro) c.5035T>C (p.Ser1679Pro) | |
| 5 | g.37048573T>G | CA359508199 | NIPBL | c.6661T>G (p.Ser2221Ala) c.1-16005T>G (n.1-16005T>G) c.5917T>G (p.Ser1973Ala) c.6463T>G (p.Ser2155Ala) c.6280T>G (p.Ser2094Ala) c.6001T>G (p.Ser2001Ala) c.5044T>G (p.Ser1682Ala) c.5035T>G (p.Ser1679Ala) | |
| 5 | g.37048574C>A | CA359508201 | NIPBL | c.6662C>A (p.Ser2221Tyr) c.1-16004C>A (n.1-16004C>A) c.5918C>A (p.Ser1973Tyr) c.6464C>A (p.Ser2155Tyr) c.6281C>A (p.Ser2094Tyr) c.6002C>A (p.Ser2001Tyr) c.5045C>A (p.Ser1682Tyr) c.5036C>A (p.Ser1679Tyr) | |
| 5 | g.37048574C= | CA1539567607 | NIPBL | c.6662C= (p.Ser2221=) c.1-16004C= (n.1-16004C=) c.5918C= (p.Ser1973=) c.6464C= (p.Ser2155=) c.6281C= (p.Ser2094=) c.6002C= (p.Ser2001=) c.5045C= (p.Ser1682=) c.5036C= (p.Ser1679=) | |
| 5 | g.37048574C>G | CA359508202 | NIPBL | c.6662C>G (p.Ser2221Cys) c.1-16004C>G (n.1-16004C>G) c.5918C>G (p.Ser1973Cys) c.6464C>G (p.Ser2155Cys) c.6281C>G (p.Ser2094Cys) c.6002C>G (p.Ser2001Cys) c.5045C>G (p.Ser1682Cys) c.5036C>G (p.Ser1679Cys) | dbSNP gnomAD v4 |
| 5 | g.37048574C>T | CA359508204 | NIPBL | c.6662C>T (p.Ser2221Phe) c.1-16004C>T (n.1-16004C>T) c.5918C>T (p.Ser1973Phe) c.6464C>T (p.Ser2155Phe) c.6281C>T (p.Ser2094Phe) c.6002C>T (p.Ser2001Phe) c.5045C>T (p.Ser1682Phe) c.5036C>T (p.Ser1679Phe) | |
| 5 | g.37048575T>A | CA443907118 | NIPBL | c.6663T>A (p.Ser2221=) c.1-16003T>A (n.1-16003T>A) c.5919T>A (p.Ser1973=) c.6465T>A (p.Ser2155=) c.6282T>A (p.Ser2094=) c.6003T>A (p.Ser2001=) c.5046T>A (p.Ser1682=) c.5037T>A (p.Ser1679=) | gnomAD v4 |
| 5 | g.37048575T>C | CA443907116 | NIPBL | c.6663T>C (p.Ser2221=) c.1-16003T>C (n.1-16003T>C) c.5919T>C (p.Ser1973=) c.6465T>C (p.Ser2155=) c.6282T>C (p.Ser2094=) c.6003T>C (p.Ser2001=) c.5046T>C (p.Ser1682=) c.5037T>C (p.Ser1679=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37048575T>G | CA443907117 | NIPBL | c.6663T>G (p.Ser2221=) c.1-16003T>G (n.1-16003T>G) c.5919T>G (p.Ser1973=) c.6465T>G (p.Ser2155=) c.6282T>G (p.Ser2094=) c.6003T>G (p.Ser2001=) c.5046T>G (p.Ser1682=) c.5037T>G (p.Ser1679=) | |
| 5 | g.37048575T= | CA1539567613 | NIPBL | c.6663T= (p.Ser2221=) c.1-16003T= (n.1-16003T=) c.5919T= (p.Ser1973=) c.6465T= (p.Ser2155=) c.6282T= (p.Ser2094=) c.6003T= (p.Ser2001=) c.5046T= (p.Ser1682=) c.5037T= (p.Ser1679=) | |
| 5 | g.37048576G>A | CA359508206 | NIPBL | c.6664G>A (p.Asp2222Asn) c.1-16002G>A (n.1-16002G>A) c.5920G>A (p.Asp1974Asn) c.6466G>A (p.Asp2156Asn) c.6283G>A (p.Asp2095Asn) c.6004G>A (p.Asp2002Asn) c.5047G>A (p.Asp1683Asn) c.5038G>A (p.Asp1680Asn) | |
| 5 | g.37048576G>C | CA359508208 | NIPBL | c.6664G>C (p.Asp2222His) c.1-16002G>C (n.1-16002G>C) c.5920G>C (p.Asp1974His) c.6466G>C (p.Asp2156His) c.6283G>C (p.Asp2095His) c.6004G>C (p.Asp2002His) c.5047G>C (p.Asp1683His) c.5038G>C (p.Asp1680His) | |
| 5 | g.37048576G>T | CA359508211 | NIPBL | c.6664G>T (p.Asp2222Tyr) c.1-16002G>T (n.1-16002G>T) c.5920G>T (p.Asp1974Tyr) c.6466G>T (p.Asp2156Tyr) c.6283G>T (p.Asp2095Tyr) c.6004G>T (p.Asp2002Tyr) c.5047G>T (p.Asp1683Tyr) c.5038G>T (p.Asp1680Tyr) | |
| 5 | g.37048577A>C | CA359508214 | NIPBL | c.6665A>C (p.Asp2222Ala) c.1-16001A>C (n.1-16001A>C) c.5921A>C (p.Asp1974Ala) c.6467A>C (p.Asp2156Ala) c.6284A>C (p.Asp2095Ala) c.6005A>C (p.Asp2002Ala) c.5048A>C (p.Asp1683Ala) c.5039A>C (p.Asp1680Ala) | |
| 5 | g.37048577A>G | CA359508217 | NIPBL | c.6665A>G (p.Asp2222Gly) c.1-16001A>G (n.1-16001A>G) c.5921A>G (p.Asp1974Gly) c.6467A>G (p.Asp2156Gly) c.6284A>G (p.Asp2095Gly) c.6005A>G (p.Asp2002Gly) c.5048A>G (p.Asp1683Gly) c.5039A>G (p.Asp1680Gly) | |
| 5 | g.37048577A>T | CA359508220 | NIPBL | c.6665A>T (p.Asp2222Val) c.1-16001A>T (n.1-16001A>T) c.5921A>T (p.Asp1974Val) c.6467A>T (p.Asp2156Val) c.6284A>T (p.Asp2095Val) c.6005A>T (p.Asp2002Val) c.5048A>T (p.Asp1683Val) c.5039A>T (p.Asp1680Val) | |
| 5 | g.37048578T>A | CA359508222 | NIPBL | c.6666T>A (p.Asp2222Glu) c.1-16000T>A (n.1-16000T>A) c.5922T>A (p.Asp1974Glu) c.6468T>A (p.Asp2156Glu) c.6285T>A (p.Asp2095Glu) c.6006T>A (p.Asp2002Glu) c.5049T>A (p.Asp1683Glu) c.5040T>A (p.Asp1680Glu) | |
| 5 | g.37048578T>C | CA443907119 | NIPBL | c.6666T>C (p.Asp2222=) c.1-16000T>C (n.1-16000T>C) c.5922T>C (p.Asp1974=) c.6468T>C (p.Asp2156=) c.6285T>C (p.Asp2095=) c.6006T>C (p.Asp2002=) c.5049T>C (p.Asp1683=) c.5040T>C (p.Asp1680=) | |
| 5 | g.37048578T>G | CA359508224 | NIPBL | c.6666T>G (p.Asp2222Glu) c.1-16000T>G (n.1-16000T>G) c.5922T>G (p.Asp1974Glu) c.6468T>G (p.Asp2156Glu) c.6285T>G (p.Asp2095Glu) c.6006T>G (p.Asp2002Glu) c.5049T>G (p.Asp1683Glu) c.5040T>G (p.Asp1680Glu) | |
| 5 | g.37048579A>C | CA359508228 | NIPBL | c.6667A>C (p.Lys2223Gln) c.1-15999A>C (n.1-15999A>C) c.5923A>C (p.Lys1975Gln) c.6469A>C (p.Lys2157Gln) c.6286A>C (p.Lys2096Gln) c.6007A>C (p.Lys2003Gln) c.5050A>C (p.Lys1684Gln) c.5041A>C (p.Lys1681Gln) | |
| 5 | g.37048579A>G | CA359508232 | NIPBL | c.6667A>G (p.Lys2223Glu) c.1-15999A>G (n.1-15999A>G) c.5923A>G (p.Lys1975Glu) c.6469A>G (p.Lys2157Glu) c.6286A>G (p.Lys2096Glu) c.6007A>G (p.Lys2003Glu) c.5050A>G (p.Lys1684Glu) c.5041A>G (p.Lys1681Glu) |