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.37049200C>A | CA359508893 | NIPBL | c.6853C>A (p.Gln2285Lys) c.1-15378C>A (n.1-15378C>A) c.6109C>A (p.Gln2037Lys) c.6655C>A (p.Gln2219Lys) c.6472C>A (p.Gln2158Lys) c.6193C>A (p.Gln2065Lys) c.5236C>A (p.Gln1746Lys) c.5227C>A (p.Gln1743Lys) | |
| 5 | g.37049200C>G | CA359508894 | NIPBL | c.6853C>G (p.Gln2285Glu) c.1-15378C>G (n.1-15378C>G) c.6109C>G (p.Gln2037Glu) c.6655C>G (p.Gln2219Glu) c.6472C>G (p.Gln2158Glu) c.6193C>G (p.Gln2065Glu) c.5236C>G (p.Gln1746Glu) c.5227C>G (p.Gln1743Glu) | |
| 5 | g.37049200C>T | CA359508895 | NIPBL | c.6853C>T (p.Gln2285Ter) c.1-15378C>T (n.1-15378C>T) c.6109C>T (p.Gln2037Ter) c.6655C>T (p.Gln2219Ter) c.6472C>T (p.Gln2158Ter) c.6193C>T (p.Gln2065Ter) c.5236C>T (p.Gln1746Ter) c.5227C>T (p.Gln1743Ter) | |
| 5 | g.37049201A>C | CA359508896 | NIPBL | c.6854A>C (p.Gln2285Pro) c.1-15377A>C (n.1-15377A>C) c.6110A>C (p.Gln2037Pro) c.6656A>C (p.Gln2219Pro) c.6473A>C (p.Gln2158Pro) c.6194A>C (p.Gln2065Pro) c.5237A>C (p.Gln1746Pro) c.5228A>C (p.Gln1743Pro) | |
| 5 | g.37049201A>G | CA359508897 | NIPBL | c.6854A>G (p.Gln2285Arg) c.1-15377A>G (n.1-15377A>G) c.6110A>G (p.Gln2037Arg) c.6656A>G (p.Gln2219Arg) c.6473A>G (p.Gln2158Arg) c.6194A>G (p.Gln2065Arg) c.5237A>G (p.Gln1746Arg) c.5228A>G (p.Gln1743Arg) | ClinVar |
| 5 | g.37049201A>T | CA359508898 | NIPBL | c.6854A>T (p.Gln2285Leu) c.1-15377A>T (n.1-15377A>T) c.6110A>T (p.Gln2037Leu) c.6656A>T (p.Gln2219Leu) c.6473A>T (p.Gln2158Leu) c.6194A>T (p.Gln2065Leu) c.5237A>T (p.Gln1746Leu) c.5228A>T (p.Gln1743Leu) | |
| 5 | g.37049201_37049202del | CA2695204426 | NIPBL | c.6854_6855del (p.Gln2285ArgfsTer3) c.1-15377_1-15376del (n.1-15377_1-15376del) c.6110_6111del (p.Gln2037ArgfsTer3) c.6656_6657del (p.Gln2219ArgfsTer3) c.6473_6474del (p.Gln2158ArgfsTer3) c.6194_6195del (p.Gln2065ArgfsTer3) c.5237_5238del (p.Gln1746ArgfsTer3) c.5228_5229del (p.Gln1743ArgfsTer3) | |
| 5 | g.37049202G>A | CA443908110 | NIPBL | c.6855G>A (p.Gln2285=) c.1-15376G>A (n.1-15376G>A) c.6111G>A (p.Gln2037=) c.6657G>A (p.Gln2219=) c.6474G>A (p.Gln2158=) c.6195G>A (p.Gln2065=) c.5238G>A (p.Gln1746=) c.5229G>A (p.Gln1743=) | gnomAD v4 |
| 5 | g.37049202G>C | CA359508899 | NIPBL | c.6855G>C (p.Gln2285His) c.1-15376G>C (n.1-15376G>C) c.6111G>C (p.Gln2037His) c.6657G>C (p.Gln2219His) c.6474G>C (p.Gln2158His) c.6195G>C (p.Gln2065His) c.5238G>C (p.Gln1746His) c.5229G>C (p.Gln1743His) | |
| 5 | g.37049202G>T | CA359508900 | NIPBL | c.6855G>T (p.Gln2285His) c.1-15376G>T (n.1-15376G>T) c.6111G>T (p.Gln2037His) c.6657G>T (p.Gln2219His) c.6474G>T (p.Gln2158His) c.6195G>T (p.Gln2065His) c.5238G>T (p.Gln1746His) c.5229G>T (p.Gln1743His) | |
| 5 | g.37049203G>A | CA359508901 | NIPBL | c.6856G>A (p.Val2286Met) c.1-15375G>A (n.1-15375G>A) c.6112G>A (p.Val2038Met) c.6658G>A (p.Val2220Met) c.6475G>A (p.Val2159Met) c.6196G>A (p.Val2066Met) c.5239G>A (p.Val1747Met) c.5230G>A (p.Val1744Met) | |
| 5 | g.37049203G>C | CA359508902 | NIPBL | c.6856G>C (p.Val2286Leu) c.1-15375G>C (n.1-15375G>C) c.6112G>C (p.Val2038Leu) c.6658G>C (p.Val2220Leu) c.6475G>C (p.Val2159Leu) c.6196G>C (p.Val2066Leu) c.5239G>C (p.Val1747Leu) c.5230G>C (p.Val1744Leu) | |
| 5 | g.37049203G>T | CA359508903 | NIPBL | c.6856G>T (p.Val2286Leu) c.1-15375G>T (n.1-15375G>T) c.6112G>T (p.Val2038Leu) c.6658G>T (p.Val2220Leu) c.6475G>T (p.Val2159Leu) c.6196G>T (p.Val2066Leu) c.5239G>T (p.Val1747Leu) c.5230G>T (p.Val1744Leu) | |
| 5 | g.37049204T>A | CA359508904 | NIPBL | c.6857T>A (p.Val2286Glu) c.1-15374T>A (n.1-15374T>A) c.6113T>A (p.Val2038Glu) c.6659T>A (p.Val2220Glu) c.6476T>A (p.Val2159Glu) c.6197T>A (p.Val2066Glu) c.5240T>A (p.Val1747Glu) c.5231T>A (p.Val1744Glu) | |
| 5 | g.37049204T>C | CA359508906 | NIPBL | c.6857T>C (p.Val2286Ala) c.1-15374T>C (n.1-15374T>C) c.6113T>C (p.Val2038Ala) c.6659T>C (p.Val2220Ala) c.6476T>C (p.Val2159Ala) c.6197T>C (p.Val2066Ala) c.5240T>C (p.Val1747Ala) c.5231T>C (p.Val1744Ala) | |
| 5 | g.37049204T>G | CA359508905 | NIPBL | c.6857T>G (p.Val2286Gly) c.1-15374T>G (n.1-15374T>G) c.6113T>G (p.Val2038Gly) c.6659T>G (p.Val2220Gly) c.6476T>G (p.Val2159Gly) c.6197T>G (p.Val2066Gly) c.5240T>G (p.Val1747Gly) c.5231T>G (p.Val1744Gly) | |
| 5 | g.37049205G>A | CA443908125 | NIPBL | c.6858G>A (p.Val2286=) c.1-15373G>A (n.1-15373G>A) c.6114G>A (p.Val2038=) c.6660G>A (p.Val2220=) c.6477G>A (p.Val2159=) c.6198G>A (p.Val2066=) c.5241G>A (p.Val1747=) c.5232G>A (p.Val1744=) | |
| 5 | g.37049205G>C | CA443908123 | NIPBL | c.6858G>C (p.Val2286=) c.1-15373G>C (n.1-15373G>C) c.6114G>C (p.Val2038=) c.6660G>C (p.Val2220=) c.6477G>C (p.Val2159=) c.6198G>C (p.Val2066=) c.5241G>C (p.Val1747=) c.5232G>C (p.Val1744=) | gnomAD v4 |
| 5 | g.37049205G>T | CA443908121 | NIPBL | c.6858G>T (p.Val2286=) c.1-15373G>T (n.1-15373G>T) c.6114G>T (p.Val2038=) c.6660G>T (p.Val2220=) c.6477G>T (p.Val2159=) c.6198G>T (p.Val2066=) c.5241G>T (p.Val1747=) c.5232G>T (p.Val1744=) | |
| 5 | g.37049206C>A | CA359508907 | NIPBL | c.6859C>A (p.Leu2287Ile) c.1-15372C>A (n.1-15372C>A) c.6115C>A (p.Leu2039Ile) c.6661C>A (p.Leu2221Ile) c.6478C>A (p.Leu2160Ile) c.6199C>A (p.Leu2067Ile) c.5242C>A (p.Leu1748Ile) c.5233C>A (p.Leu1745Ile) | |
| 5 | g.37049206C>G | CA359508908 | NIPBL | c.6859C>G (p.Leu2287Val) c.1-15372C>G (n.1-15372C>G) c.6115C>G (p.Leu2039Val) c.6661C>G (p.Leu2221Val) c.6478C>G (p.Leu2160Val) c.6199C>G (p.Leu2067Val) c.5242C>G (p.Leu1748Val) c.5233C>G (p.Leu1745Val) | |
| 5 | g.37049206C>T | CA359508909 | NIPBL | c.6859C>T (p.Leu2287Phe) c.1-15372C>T (n.1-15372C>T) c.6115C>T (p.Leu2039Phe) c.6661C>T (p.Leu2221Phe) c.6478C>T (p.Leu2160Phe) c.6199C>T (p.Leu2067Phe) c.5242C>T (p.Leu1748Phe) c.5233C>T (p.Leu1745Phe) | gnomAD v4 |
| 5 | g.37049207T>A | CA359508910 | NIPBL | c.6860T>A (p.Leu2287His) c.1-15371T>A (n.1-15371T>A) c.6116T>A (p.Leu2039His) c.6662T>A (p.Leu2221His) c.6479T>A (p.Leu2160His) c.6200T>A (p.Leu2067His) c.5243T>A (p.Leu1748His) c.5234T>A (p.Leu1745His) | |
| 5 | g.37049207T>C | CA359508911 | NIPBL | c.6860T>C (p.Leu2287Pro) c.1-15371T>C (n.1-15371T>C) c.6116T>C (p.Leu2039Pro) c.6662T>C (p.Leu2221Pro) c.6479T>C (p.Leu2160Pro) c.6200T>C (p.Leu2067Pro) c.5243T>C (p.Leu1748Pro) c.5234T>C (p.Leu1745Pro) | ClinVar |
| 5 | g.37049207T>G | CA359508912 | NIPBL | c.6860T>G (p.Leu2287Arg) c.1-15371T>G (n.1-15371T>G) c.6116T>G (p.Leu2039Arg) c.6662T>G (p.Leu2221Arg) c.6479T>G (p.Leu2160Arg) c.6200T>G (p.Leu2067Arg) c.5243T>G (p.Leu1748Arg) c.5234T>G (p.Leu1745Arg) | |
| 5 | g.37049208T>A | CA443908137 | NIPBL | c.6861T>A (p.Leu2287=) c.1-15370T>A (n.1-15370T>A) c.6117T>A (p.Leu2039=) c.6663T>A (p.Leu2221=) c.6480T>A (p.Leu2160=) c.6201T>A (p.Leu2067=) c.5244T>A (p.Leu1748=) c.5235T>A (p.Leu1745=) | |
| 5 | g.37049208T>C | CA443908142 | NIPBL | c.6861T>C (p.Leu2287=) c.1-15370T>C (n.1-15370T>C) c.6117T>C (p.Leu2039=) c.6663T>C (p.Leu2221=) c.6480T>C (p.Leu2160=) c.6201T>C (p.Leu2067=) c.5244T>C (p.Leu1748=) c.5235T>C (p.Leu1745=) | |
| 5 | g.37049208T>G | CA443908140 | NIPBL | c.6861T>G (p.Leu2287=) c.1-15370T>G (n.1-15370T>G) c.6117T>G (p.Leu2039=) c.6663T>G (p.Leu2221=) c.6480T>G (p.Leu2160=) c.6201T>G (p.Leu2067=) c.5244T>G (p.Leu1748=) c.5235T>G (p.Leu1745=) | gnomAD v4 |
| 5 | g.37049209G>A | CA359508913 | NIPBL | c.6862G>A (p.Glu2288Lys) c.1-15369G>A (n.1-15369G>A) c.6118G>A (p.Glu2040Lys) c.6664G>A (p.Glu2222Lys) c.6481G>A (p.Glu2161Lys) c.6202G>A (p.Glu2068Lys) c.5245G>A (p.Glu1749Lys) c.5236G>A (p.Glu1746Lys) | |
| 5 | g.37049209G>C | CA359508914 | NIPBL | c.6862G>C (p.Glu2288Gln) c.1-15369G>C (n.1-15369G>C) c.6118G>C (p.Glu2040Gln) c.6664G>C (p.Glu2222Gln) c.6481G>C (p.Glu2161Gln) c.6202G>C (p.Glu2068Gln) c.5245G>C (p.Glu1749Gln) c.5236G>C (p.Glu1746Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049209G= | CA1539568414 | NIPBL | c.6862G= (p.Glu2288=) c.1-15369G= (n.1-15369G=) c.6118G= (p.Glu2040=) c.6664G= (p.Glu2222=) c.6481G= (p.Glu2161=) c.6202G= (p.Glu2068=) c.5245G= (p.Glu1749=) c.5236G= (p.Glu1746=) | |
| 5 | g.37049209G>T | CA359508915 | NIPBL | c.6862G>T (p.Glu2288Ter) c.1-15369G>T (n.1-15369G>T) c.6118G>T (p.Glu2040Ter) c.6664G>T (p.Glu2222Ter) c.6481G>T (p.Glu2161Ter) c.6202G>T (p.Glu2068Ter) c.5245G>T (p.Glu1749Ter) c.5236G>T (p.Glu1746Ter) | |
| 5 | g.37049210A>C | CA359508918 | NIPBL | c.6863A>C (p.Glu2288Ala) c.1-15368A>C (n.1-15368A>C) c.6119A>C (p.Glu2040Ala) c.6665A>C (p.Glu2222Ala) c.6482A>C (p.Glu2161Ala) c.6203A>C (p.Glu2068Ala) c.5246A>C (p.Glu1749Ala) c.5237A>C (p.Glu1746Ala) | gnomAD v4 |
| 5 | g.37049210A>G | CA359508917 | NIPBL | c.6863A>G (p.Glu2288Gly) c.1-15368A>G (n.1-15368A>G) c.6119A>G (p.Glu2040Gly) c.6665A>G (p.Glu2222Gly) c.6482A>G (p.Glu2161Gly) c.6203A>G (p.Glu2068Gly) c.5246A>G (p.Glu1749Gly) c.5237A>G (p.Glu1746Gly) | COSMIC COSMIC |
| 5 | g.37049210A>T | CA359508916 | NIPBL | c.6863A>T (p.Glu2288Val) c.1-15368A>T (n.1-15368A>T) c.6119A>T (p.Glu2040Val) c.6665A>T (p.Glu2222Val) c.6482A>T (p.Glu2161Val) c.6203A>T (p.Glu2068Val) c.5246A>T (p.Glu1749Val) c.5237A>T (p.Glu1746Val) | |
| 5 | g.37049211G>A | CA443908151 | NIPBL | c.6864G>A (p.Glu2288=) c.1-15367G>A (n.1-15367G>A) c.6120G>A (p.Glu2040=) c.6666G>A (p.Glu2222=) c.6483G>A (p.Glu2161=) c.6204G>A (p.Glu2068=) c.5247G>A (p.Glu1749=) c.5238G>A (p.Glu1746=) | |
| 5 | g.37049211G>C | CA359508919 | NIPBL | c.6864G>C (p.Glu2288Asp) c.1-15367G>C (n.1-15367G>C) c.6120G>C (p.Glu2040Asp) c.6666G>C (p.Glu2222Asp) c.6483G>C (p.Glu2161Asp) c.6204G>C (p.Glu2068Asp) c.5247G>C (p.Glu1749Asp) c.5238G>C (p.Glu1746Asp) | |
| 5 | g.37049211G>T | CA359508920 | NIPBL | c.6864G>T (p.Glu2288Asp) c.1-15367G>T (n.1-15367G>T) c.6120G>T (p.Glu2040Asp) c.6666G>T (p.Glu2222Asp) c.6483G>T (p.Glu2161Asp) c.6204G>T (p.Glu2068Asp) c.5247G>T (p.Glu1749Asp) c.5238G>T (p.Glu1746Asp) | ClinVar gnomAD v4 |
| 5 | g.37049212G>A | CA359508921 | NIPBL | c.6865G>A (p.Ala2289Thr) c.1-15366G>A (n.1-15366G>A) c.6121G>A (p.Ala2041Thr) c.6667G>A (p.Ala2223Thr) c.6484G>A (p.Ala2162Thr) c.6205G>A (p.Ala2069Thr) c.5248G>A (p.Ala1750Thr) c.5239G>A (p.Ala1747Thr) | |
| 5 | g.37049212G>C | CA359508922 | NIPBL | c.6865G>C (p.Ala2289Pro) c.1-15366G>C (n.1-15366G>C) c.6121G>C (p.Ala2041Pro) c.6667G>C (p.Ala2223Pro) c.6484G>C (p.Ala2162Pro) c.6205G>C (p.Ala2069Pro) c.5248G>C (p.Ala1750Pro) c.5239G>C (p.Ala1747Pro) | |
| 5 | g.37049212G>T | CA359508923 | NIPBL | c.6865G>T (p.Ala2289Ser) c.1-15366G>T (n.1-15366G>T) c.6121G>T (p.Ala2041Ser) c.6667G>T (p.Ala2223Ser) c.6484G>T (p.Ala2162Ser) c.6205G>T (p.Ala2069Ser) c.5248G>T (p.Ala1750Ser) c.5239G>T (p.Ala1747Ser) | |
| 5 | g.37049213C>A | CA359508924 | NIPBL | c.6866C>A (p.Ala2289Glu) c.1-15365C>A (n.1-15365C>A) c.6122C>A (p.Ala2041Glu) c.6668C>A (p.Ala2223Glu) c.6485C>A (p.Ala2162Glu) c.6206C>A (p.Ala2069Glu) c.5249C>A (p.Ala1750Glu) c.5240C>A (p.Ala1747Glu) | |
| 5 | g.37049213C= | CA1539568419 | NIPBL | c.6866C= (p.Ala2289=) c.1-15365C= (n.1-15365C=) c.6122C= (p.Ala2041=) c.6668C= (p.Ala2223=) c.6485C= (p.Ala2162=) c.6206C= (p.Ala2069=) c.5249C= (p.Ala1750=) c.5240C= (p.Ala1747=) | |
| 5 | g.37049213C>G | CA359508925 | NIPBL | c.6866C>G (p.Ala2289Gly) c.1-15365C>G (n.1-15365C>G) c.6122C>G (p.Ala2041Gly) c.6668C>G (p.Ala2223Gly) c.6485C>G (p.Ala2162Gly) c.6206C>G (p.Ala2069Gly) c.5249C>G (p.Ala1750Gly) c.5240C>G (p.Ala1747Gly) | dbSNP gnomAD v2 |
| 5 | g.37049213C>T | CA359508926 | NIPBL | c.6866C>T (p.Ala2289Val) c.1-15365C>T (n.1-15365C>T) c.6122C>T (p.Ala2041Val) c.6668C>T (p.Ala2223Val) c.6485C>T (p.Ala2162Val) c.6206C>T (p.Ala2069Val) c.5249C>T (p.Ala1750Val) c.5240C>T (p.Ala1747Val) | |
| 5 | g.37049214A>C | CA443908163 | NIPBL | c.6867A>C (p.Ala2289=) c.1-15364A>C (n.1-15364A>C) c.6123A>C (p.Ala2041=) c.6669A>C (p.Ala2223=) c.6486A>C (p.Ala2162=) c.6207A>C (p.Ala2069=) c.5250A>C (p.Ala1750=) c.5241A>C (p.Ala1747=) | gnomAD v4 |
| 5 | g.37049214A>G | CA443908165 | NIPBL | c.6867A>G (p.Ala2289=) c.1-15364A>G (n.1-15364A>G) c.6123A>G (p.Ala2041=) c.6669A>G (p.Ala2223=) c.6486A>G (p.Ala2162=) c.6207A>G (p.Ala2069=) c.5250A>G (p.Ala1750=) c.5241A>G (p.Ala1747=) | |
| 5 | g.37049214A>T | CA443908166 | NIPBL | c.6867A>T (p.Ala2289=) c.1-15364A>T (n.1-15364A>T) c.6123A>T (p.Ala2041=) c.6669A>T (p.Ala2223=) c.6486A>T (p.Ala2162=) c.6207A>T (p.Ala2069=) c.5250A>T (p.Ala1750=) c.5241A>T (p.Ala1747=) | |
| 5 | g.37049215T>A | CA359508927 | NIPBL | c.6868T>A (p.Phe2290Ile) c.1-15363T>A (n.1-15363T>A) c.6124T>A (p.Phe2042Ile) c.6670T>A (p.Phe2224Ile) c.6487T>A (p.Phe2163Ile) c.6208T>A (p.Phe2070Ile) c.5251T>A (p.Phe1751Ile) c.5242T>A (p.Phe1748Ile) | |
| 5 | g.37049215T>C | CA359508928 | NIPBL | c.6868T>C (p.Phe2290Leu) c.1-15363T>C (n.1-15363T>C) c.6124T>C (p.Phe2042Leu) c.6670T>C (p.Phe2224Leu) c.6487T>C (p.Phe2163Leu) c.6208T>C (p.Phe2070Leu) c.5251T>C (p.Phe1751Leu) c.5242T>C (p.Phe1748Leu) | |
| 5 | g.37049215T>G | CA359508929 | NIPBL | c.6868T>G (p.Phe2290Val) c.1-15363T>G (n.1-15363T>G) c.6124T>G (p.Phe2042Val) c.6670T>G (p.Phe2224Val) c.6487T>G (p.Phe2163Val) c.6208T>G (p.Phe2070Val) c.5251T>G (p.Phe1751Val) c.5242T>G (p.Phe1748Val) | |
| 5 | g.37049220dup | CA2695204427 | NIPBL | c.6873dup (p.His2292SerfsTer?) c.1-15358dup (n.1-15358dup) c.6129dup (p.His2044SerfsTer?) c.6675dup (p.His2226SerfsTer?) c.6492dup (p.His2165SerfsTer?) c.6213dup (p.His2072SerfsTer?) c.5256dup (p.His1753SerfsTer?) c.5247dup (p.His1750SerfsTer?) | ClinVar |
| 5 | g.37049216T>A | CA359508930 | NIPBL | c.6869T>A (p.Phe2290Tyr) c.1-15362T>A (n.1-15362T>A) c.6125T>A (p.Phe2042Tyr) c.6671T>A (p.Phe2224Tyr) c.6488T>A (p.Phe2163Tyr) c.6209T>A (p.Phe2070Tyr) c.5252T>A (p.Phe1751Tyr) c.5243T>A (p.Phe1748Tyr) | |
| 5 | g.37049216T>C | CA359508931 | NIPBL | c.6869T>C (p.Phe2290Ser) c.1-15362T>C (n.1-15362T>C) c.6125T>C (p.Phe2042Ser) c.6671T>C (p.Phe2224Ser) c.6488T>C (p.Phe2163Ser) c.6209T>C (p.Phe2070Ser) c.5252T>C (p.Phe1751Ser) c.5243T>C (p.Phe1748Ser) | |
| 5 | g.37049216T>G | CA359508932 | NIPBL | c.6869T>G (p.Phe2290Cys) c.1-15362T>G (n.1-15362T>G) c.6125T>G (p.Phe2042Cys) c.6671T>G (p.Phe2224Cys) c.6488T>G (p.Phe2163Cys) c.6209T>G (p.Phe2070Cys) c.5252T>G (p.Phe1751Cys) c.5243T>G (p.Phe1748Cys) | COSMIC COSMIC |
| 5 | g.37049217T>A | CA359508933 | NIPBL | c.6870T>A (p.Phe2290Leu) c.1-15361T>A (n.1-15361T>A) c.6126T>A (p.Phe2042Leu) c.6672T>A (p.Phe2224Leu) c.6489T>A (p.Phe2163Leu) c.6210T>A (p.Phe2070Leu) c.5253T>A (p.Phe1751Leu) c.5244T>A (p.Phe1748Leu) | |
| 5 | g.37049217T>C | CA443908178 | NIPBL | c.6870T>C (p.Phe2290=) c.1-15361T>C (n.1-15361T>C) c.6126T>C (p.Phe2042=) c.6672T>C (p.Phe2224=) c.6489T>C (p.Phe2163=) c.6210T>C (p.Phe2070=) c.5253T>C (p.Phe1751=) c.5244T>C (p.Phe1748=) | |
| 5 | g.37049217T>G | CA359508934 | NIPBL | c.6870T>G (p.Phe2290Leu) c.1-15361T>G (n.1-15361T>G) c.6126T>G (p.Phe2042Leu) c.6672T>G (p.Phe2224Leu) c.6489T>G (p.Phe2163Leu) c.6210T>G (p.Phe2070Leu) c.5253T>G (p.Phe1751Leu) c.5244T>G (p.Phe1748Leu) | |
| 5 | g.37049218T>A | CA359508935 | NIPBL | c.6871T>A (p.Phe2291Ile) c.1-15360T>A (n.1-15360T>A) c.6127T>A (p.Phe2043Ile) c.6673T>A (p.Phe2225Ile) c.6490T>A (p.Phe2164Ile) c.6211T>A (p.Phe2071Ile) c.5254T>A (p.Phe1752Ile) c.5245T>A (p.Phe1749Ile) | |
| 5 | g.37049218T>C | CA359508936 | NIPBL | c.6871T>C (p.Phe2291Leu) c.1-15360T>C (n.1-15360T>C) c.6127T>C (p.Phe2043Leu) c.6673T>C (p.Phe2225Leu) c.6490T>C (p.Phe2164Leu) c.6211T>C (p.Phe2071Leu) c.5254T>C (p.Phe1752Leu) c.5245T>C (p.Phe1749Leu) | |
| 5 | g.37049218T>G | CA359508937 | NIPBL | c.6871T>G (p.Phe2291Val) c.1-15360T>G (n.1-15360T>G) c.6127T>G (p.Phe2043Val) c.6673T>G (p.Phe2225Val) c.6490T>G (p.Phe2164Val) c.6211T>G (p.Phe2071Val) c.5254T>G (p.Phe1752Val) c.5245T>G (p.Phe1749Val) | |
| 5 | g.37049219T>A | CA359508938 | NIPBL | c.6872T>A (p.Phe2291Tyr) c.1-15359T>A (n.1-15359T>A) c.6128T>A (p.Phe2043Tyr) c.6674T>A (p.Phe2225Tyr) c.6491T>A (p.Phe2164Tyr) c.6212T>A (p.Phe2071Tyr) c.5255T>A (p.Phe1752Tyr) c.5246T>A (p.Phe1749Tyr) | |
| 5 | g.37049219T>C | CA359508939 | NIPBL | c.6872T>C (p.Phe2291Ser) c.1-15359T>C (n.1-15359T>C) c.6128T>C (p.Phe2043Ser) c.6674T>C (p.Phe2225Ser) c.6491T>C (p.Phe2164Ser) c.6212T>C (p.Phe2071Ser) c.5255T>C (p.Phe1752Ser) c.5246T>C (p.Phe1749Ser) | |
| 5 | g.37049219T>G | CA359508940 | NIPBL | c.6872T>G (p.Phe2291Cys) c.1-15359T>G (n.1-15359T>G) c.6128T>G (p.Phe2043Cys) c.6674T>G (p.Phe2225Cys) c.6491T>G (p.Phe2164Cys) c.6212T>G (p.Phe2071Cys) c.5255T>G (p.Phe1752Cys) c.5246T>G (p.Phe1749Cys) | |
| 5 | g.37049220T>A | CA359508941 | NIPBL | c.6873T>A (p.Phe2291Leu) c.1-15358T>A (n.1-15358T>A) c.6129T>A (p.Phe2043Leu) c.6675T>A (p.Phe2225Leu) c.6492T>A (p.Phe2164Leu) c.6213T>A (p.Phe2071Leu) c.5256T>A (p.Phe1752Leu) c.5247T>A (p.Phe1749Leu) | |
| 5 | g.37049220T>C | CA443908193 | NIPBL | c.6873T>C (p.Phe2291=) c.1-15358T>C (n.1-15358T>C) c.6129T>C (p.Phe2043=) c.6675T>C (p.Phe2225=) c.6492T>C (p.Phe2164=) c.6213T>C (p.Phe2071=) c.5256T>C (p.Phe1752=) c.5247T>C (p.Phe1749=) | |
| 5 | g.37049220T>G | CA359508942 | NIPBL | c.6873T>G (p.Phe2291Leu) c.1-15358T>G (n.1-15358T>G) c.6129T>G (p.Phe2043Leu) c.6675T>G (p.Phe2225Leu) c.6492T>G (p.Phe2164Leu) c.6213T>G (p.Phe2071Leu) c.5256T>G (p.Phe1752Leu) c.5247T>G (p.Phe1749Leu) | |
| 5 | g.37049221C>A | CA359508943 | NIPBL | c.6874C>A (p.His2292Asn) c.1-15357C>A (n.1-15357C>A) c.6130C>A (p.His2044Asn) c.6676C>A (p.His2226Asn) c.6493C>A (p.His2165Asn) c.6214C>A (p.His2072Asn) c.5257C>A (p.His1753Asn) c.5248C>A (p.His1750Asn) | |
| 5 | g.37049221C>G | CA359508944 | NIPBL | c.6874C>G (p.His2292Asp) c.1-15357C>G (n.1-15357C>G) c.6130C>G (p.His2044Asp) c.6676C>G (p.His2226Asp) c.6493C>G (p.His2165Asp) c.6214C>G (p.His2072Asp) c.5257C>G (p.His1753Asp) c.5248C>G (p.His1750Asp) | |
| 5 | g.37049221C>T | CA359508945 | NIPBL | c.6874C>T (p.His2292Tyr) c.1-15357C>T (n.1-15357C>T) c.6130C>T (p.His2044Tyr) c.6676C>T (p.His2226Tyr) c.6493C>T (p.His2165Tyr) c.6214C>T (p.His2072Tyr) c.5257C>T (p.His1753Tyr) c.5248C>T (p.His1750Tyr) | |
| 5 | g.37049222A>C | CA359508948 | NIPBL | c.6875A>C (p.His2292Pro) c.1-15356A>C (n.1-15356A>C) c.6131A>C (p.His2044Pro) c.6677A>C (p.His2226Pro) c.6494A>C (p.His2165Pro) c.6215A>C (p.His2072Pro) c.5258A>C (p.His1753Pro) c.5249A>C (p.His1750Pro) | |
| 5 | g.37049222A>G | CA359508947 | NIPBL | c.6875A>G (p.His2292Arg) c.1-15356A>G (n.1-15356A>G) c.6131A>G (p.His2044Arg) c.6677A>G (p.His2226Arg) c.6494A>G (p.His2165Arg) c.6215A>G (p.His2072Arg) c.5258A>G (p.His1753Arg) c.5249A>G (p.His1750Arg) | |
| 5 | g.37049222A>T | CA359508946 | NIPBL | c.6875A>T (p.His2292Leu) c.1-15356A>T (n.1-15356A>T) c.6131A>T (p.His2044Leu) c.6677A>T (p.His2226Leu) c.6494A>T (p.His2165Leu) c.6215A>T (p.His2072Leu) c.5258A>T (p.His1753Leu) c.5249A>T (p.His1750Leu) | |
| 5 | g.37049223C>A | CA359508949 | NIPBL | c.6876C>A (p.His2292Gln) c.1-15355C>A (n.1-15355C>A) c.6132C>A (p.His2044Gln) c.6678C>A (p.His2226Gln) c.6495C>A (p.His2165Gln) c.6216C>A (p.His2072Gln) c.5259C>A (p.His1753Gln) c.5250C>A (p.His1750Gln) | |
| 5 | g.37049223C= | CA1539568422 | NIPBL | c.6876C= (p.His2292=) c.1-15355C= (n.1-15355C=) c.6132C= (p.His2044=) c.6678C= (p.His2226=) c.6495C= (p.His2165=) c.6216C= (p.His2072=) c.5259C= (p.His1753=) c.5250C= (p.His1750=) | |
| 5 | g.37049223C>G | CA359508950 | NIPBL | c.6876C>G (p.His2292Gln) c.1-15355C>G (n.1-15355C>G) c.6132C>G (p.His2044Gln) c.6678C>G (p.His2226Gln) c.6495C>G (p.His2165Gln) c.6216C>G (p.His2072Gln) c.5259C>G (p.His1753Gln) c.5250C>G (p.His1750Gln) | dbSNP |
| 5 | g.37049223C>T | CA443908206 | NIPBL | c.6876C>T (p.His2292=) c.1-15355C>T (n.1-15355C>T) c.6132C>T (p.His2044=) c.6678C>T (p.His2226=) c.6495C>T (p.His2165=) c.6216C>T (p.His2072=) c.5259C>T (p.His1753=) c.5250C>T (p.His1750=) | gnomAD v4 |
| 5 | g.37049224A>C | CA359508951 | NIPBL | c.6877A>C (p.Thr2293Pro) c.1-15354A>C (n.1-15354A>C) c.6133A>C (p.Thr2045Pro) c.6679A>C (p.Thr2227Pro) c.6496A>C (p.Thr2166Pro) c.6217A>C (p.Thr2073Pro) c.5260A>C (p.Thr1754Pro) c.5251A>C (p.Thr1751Pro) | |
| 5 | g.37049224A>G | CA359508953 | NIPBL | c.6877A>G (p.Thr2293Ala) c.1-15354A>G (n.1-15354A>G) c.6133A>G (p.Thr2045Ala) c.6679A>G (p.Thr2227Ala) c.6496A>G (p.Thr2166Ala) c.6217A>G (p.Thr2073Ala) c.5260A>G (p.Thr1754Ala) c.5251A>G (p.Thr1751Ala) | |
| 5 | g.37049224A>T | CA359508952 | NIPBL | c.6877A>T (p.Thr2293Ser) c.1-15354A>T (n.1-15354A>T) c.6133A>T (p.Thr2045Ser) c.6679A>T (p.Thr2227Ser) c.6496A>T (p.Thr2166Ser) c.6217A>T (p.Thr2073Ser) c.5260A>T (p.Thr1754Ser) c.5251A>T (p.Thr1751Ser) | |
| 5 | g.37049225C>A | CA359508954 | NIPBL | c.6878C>A (p.Thr2293Asn) c.1-15353C>A (n.1-15353C>A) c.6134C>A (p.Thr2045Asn) c.6680C>A (p.Thr2227Asn) c.6497C>A (p.Thr2166Asn) c.6218C>A (p.Thr2073Asn) c.5261C>A (p.Thr1754Asn) c.5252C>A (p.Thr1751Asn) | |
| 5 | g.37049225C>G | CA359508956 | NIPBL | c.6878C>G (p.Thr2293Ser) c.1-15353C>G (n.1-15353C>G) c.6134C>G (p.Thr2045Ser) c.6680C>G (p.Thr2227Ser) c.6497C>G (p.Thr2166Ser) c.6218C>G (p.Thr2073Ser) c.5261C>G (p.Thr1754Ser) c.5252C>G (p.Thr1751Ser) | |
| 5 | g.37049225C>T | CA359508955 | NIPBL | c.6878C>T (p.Thr2293Ile) c.1-15353C>T (n.1-15353C>T) c.6134C>T (p.Thr2045Ile) c.6680C>T (p.Thr2227Ile) c.6497C>T (p.Thr2166Ile) c.6218C>T (p.Thr2073Ile) c.5261C>T (p.Thr1754Ile) c.5252C>T (p.Thr1751Ile) | |
| 5 | g.37049226C>A | CA443908218 | NIPBL | c.6879C>A (p.Thr2293=) c.1-15352C>A (n.1-15352C>A) c.6135C>A (p.Thr2045=) c.6681C>A (p.Thr2227=) c.6498C>A (p.Thr2166=) c.6219C>A (p.Thr2073=) c.5262C>A (p.Thr1754=) c.5253C>A (p.Thr1751=) | |
| 5 | g.37049226C= | CA1539568426 | NIPBL | c.6879C= (p.Thr2293=) c.1-15352C= (n.1-15352C=) c.6135C= (p.Thr2045=) c.6681C= (p.Thr2227=) c.6498C= (p.Thr2166=) c.6219C= (p.Thr2073=) c.5262C= (p.Thr1754=) c.5253C= (p.Thr1751=) | |
| 5 | g.37049226C>G | CA443908220 | NIPBL | c.6879C>G (p.Thr2293=) c.1-15352C>G (n.1-15352C>G) c.6135C>G (p.Thr2045=) c.6681C>G (p.Thr2227=) c.6498C>G (p.Thr2166=) c.6219C>G (p.Thr2073=) c.5262C>G (p.Thr1754=) c.5253C>G (p.Thr1751=) | gnomAD v4 |
| 5 | g.37049226C>T | CA3237079 | NIPBL | c.6879C>T (p.Thr2293=) c.1-15352C>T (n.1-15352C>T) c.6135C>T (p.Thr2045=) c.6681C>T (p.Thr2227=) c.6498C>T (p.Thr2166=) c.6219C>T (p.Thr2073=) c.5262C>T (p.Thr1754=) c.5253C>T (p.Thr1751=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049227C>A | CA359508958 | NIPBL | c.6880C>A (p.Gln2294Lys) c.1-15351C>A (n.1-15351C>A) c.6136C>A (p.Gln2046Lys) c.6682C>A (p.Gln2228Lys) c.6499C>A (p.Gln2167Lys) c.6220C>A (p.Gln2074Lys) c.5263C>A (p.Gln1755Lys) c.5254C>A (p.Gln1752Lys) | |
| 5 | g.37049227C>G | CA359508957 | NIPBL | c.6880C>G (p.Gln2294Glu) c.1-15351C>G (n.1-15351C>G) c.6136C>G (p.Gln2046Glu) c.6682C>G (p.Gln2228Glu) c.6499C>G (p.Gln2167Glu) c.6220C>G (p.Gln2074Glu) c.5263C>G (p.Gln1755Glu) c.5254C>G (p.Gln1752Glu) | |
| 5 | g.37049227C>T | CA359508959 | NIPBL | c.6880C>T (p.Gln2294Ter) c.1-15351C>T (n.1-15351C>T) c.6136C>T (p.Gln2046Ter) c.6682C>T (p.Gln2228Ter) c.6499C>T (p.Gln2167Ter) c.6220C>T (p.Gln2074Ter) c.5263C>T (p.Gln1755Ter) c.5254C>T (p.Gln1752Ter) | |
| 5 | g.37049228A= | CA1539568430 | NIPBL | c.6881A= (p.Gln2294=) c.1-15350A= (n.1-15350A=) c.6137A= (p.Gln2046=) c.6683A= (p.Gln2228=) c.6500A= (p.Gln2167=) c.6221A= (p.Gln2074=) c.5264A= (p.Gln1755=) c.5255A= (p.Gln1752=) | |
| 5 | g.37049228A>C | CA359508960 | NIPBL | c.6881A>C (p.Gln2294Pro) c.1-15350A>C (n.1-15350A>C) c.6137A>C (p.Gln2046Pro) c.6683A>C (p.Gln2228Pro) c.6500A>C (p.Gln2167Pro) c.6221A>C (p.Gln2074Pro) c.5264A>C (p.Gln1755Pro) c.5255A>C (p.Gln1752Pro) | |
| 5 | g.37049228A>G | CA3237080 | NIPBL | c.6881A>G (p.Gln2294Arg) c.1-15350A>G (n.1-15350A>G) c.6137A>G (p.Gln2046Arg) c.6683A>G (p.Gln2228Arg) c.6500A>G (p.Gln2167Arg) c.6221A>G (p.Gln2074Arg) c.5264A>G (p.Gln1755Arg) c.5255A>G (p.Gln1752Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049228A>T | CA359508961 | NIPBL | c.6881A>T (p.Gln2294Leu) c.1-15350A>T (n.1-15350A>T) c.6137A>T (p.Gln2046Leu) c.6683A>T (p.Gln2228Leu) c.6500A>T (p.Gln2167Leu) c.6221A>T (p.Gln2074Leu) c.5264A>T (p.Gln1755Leu) c.5255A>T (p.Gln1752Leu) | |
| 5 | g.37049229G>A | CA443908234 | NIPBL | c.6882G>A (p.Gln2294=) c.1-15349G>A (n.1-15349G>A) c.6138G>A (p.Gln2046=) c.6684G>A (p.Gln2228=) c.6501G>A (p.Gln2167=) c.6222G>A (p.Gln2074=) c.5265G>A (p.Gln1755=) c.5256G>A (p.Gln1752=) | |
| 5 | g.37049229G>C | CA359508962 | NIPBL | c.6882G>C (p.Gln2294His) c.1-15349G>C (n.1-15349G>C) c.6138G>C (p.Gln2046His) c.6684G>C (p.Gln2228His) c.6501G>C (p.Gln2167His) c.6222G>C (p.Gln2074His) c.5265G>C (p.Gln1755His) c.5256G>C (p.Gln1752His) | |
| 5 | g.37049229G>T | CA359508963 | NIPBL | c.6882G>T (p.Gln2294His) c.1-15349G>T (n.1-15349G>T) c.6138G>T (p.Gln2046His) c.6684G>T (p.Gln2228His) c.6501G>T (p.Gln2167His) c.6222G>T (p.Gln2074His) c.5265G>T (p.Gln1755His) c.5256G>T (p.Gln1752His) | |
| 5 | g.37049230T>A | CA359508964 | NIPBL | c.6883T>A (p.Ser2295Thr) c.1-15348T>A (n.1-15348T>A) c.6139T>A (p.Ser2047Thr) c.6685T>A (p.Ser2229Thr) c.6502T>A (p.Ser2168Thr) c.6223T>A (p.Ser2075Thr) c.5266T>A (p.Ser1756Thr) c.5257T>A (p.Ser1753Thr) | |
| 5 | g.37049230T>C | CA359508965 | NIPBL | c.6883T>C (p.Ser2295Pro) c.1-15348T>C (n.1-15348T>C) c.6139T>C (p.Ser2047Pro) c.6685T>C (p.Ser2229Pro) c.6502T>C (p.Ser2168Pro) c.6223T>C (p.Ser2075Pro) c.5266T>C (p.Ser1756Pro) c.5257T>C (p.Ser1753Pro) | |
| 5 | g.37049230T>G | CA359508966 | NIPBL | c.6883T>G (p.Ser2295Ala) c.1-15348T>G (n.1-15348T>G) c.6139T>G (p.Ser2047Ala) c.6685T>G (p.Ser2229Ala) c.6502T>G (p.Ser2168Ala) c.6223T>G (p.Ser2075Ala) c.5266T>G (p.Ser1756Ala) c.5257T>G (p.Ser1753Ala) | |
| 5 | g.37049231C>A | CA359508967 | NIPBL | c.6884C>A (p.Ser2295Ter) c.1-15347C>A (n.1-15347C>A) c.6140C>A (p.Ser2047Ter) c.6686C>A (p.Ser2229Ter) c.6503C>A (p.Ser2168Ter) c.6224C>A (p.Ser2075Ter) c.5267C>A (p.Ser1756Ter) c.5258C>A (p.Ser1753Ter) | |
| 5 | g.37049231C>G | CA359508968 | NIPBL | c.6884C>G (p.Ser2295Ter) c.1-15347C>G (n.1-15347C>G) c.6140C>G (p.Ser2047Ter) c.6686C>G (p.Ser2229Ter) c.6503C>G (p.Ser2168Ter) c.6224C>G (p.Ser2075Ter) c.5267C>G (p.Ser1756Ter) c.5258C>G (p.Ser1753Ter) | |
| 5 | g.37049231C>T | CA359508969 | NIPBL | c.6884C>T (p.Ser2295Leu) c.1-15347C>T (n.1-15347C>T) c.6140C>T (p.Ser2047Leu) c.6686C>T (p.Ser2229Leu) c.6503C>T (p.Ser2168Leu) c.6224C>T (p.Ser2075Leu) c.5267C>T (p.Ser1756Leu) c.5258C>T (p.Ser1753Leu) | |
| 5 | g.37049232A>C | CA443908245 | NIPBL | c.6885A>C (p.Ser2295=) c.1-15346A>C (n.1-15346A>C) c.6141A>C (p.Ser2047=) c.6687A>C (p.Ser2229=) c.6504A>C (p.Ser2168=) c.6225A>C (p.Ser2075=) c.5268A>C (p.Ser1756=) c.5259A>C (p.Ser1753=) | |
| 5 | g.37049232A>G | CA443908246 | NIPBL | c.6885A>G (p.Ser2295=) c.1-15346A>G (n.1-15346A>G) c.6141A>G (p.Ser2047=) c.6687A>G (p.Ser2229=) c.6504A>G (p.Ser2168=) c.6225A>G (p.Ser2075=) c.5268A>G (p.Ser1756=) c.5259A>G (p.Ser1753=) | |
| 5 | g.37049232A>T | CA443908248 | NIPBL | c.6885A>T (p.Ser2295=) c.1-15346A>T (n.1-15346A>T) c.6141A>T (p.Ser2047=) c.6687A>T (p.Ser2229=) c.6504A>T (p.Ser2168=) c.6225A>T (p.Ser2075=) c.5268A>T (p.Ser1756=) c.5259A>T (p.Ser1753=) | |
| 5 | g.37049233A= | CA1539568436 | NIPBL | c.6886A= (p.Ser2296=) c.1-15345A= (n.1-15345A=) c.6142A= (p.Ser2048=) c.6688A= (p.Ser2230=) c.6505A= (p.Ser2169=) c.6226A= (p.Ser2076=) c.5269A= (p.Ser1757=) c.5260A= (p.Ser1754=) | |
| 5 | g.37049233A>C | CA359508972 | NIPBL | c.6886A>C (p.Ser2296Arg) c.1-15345A>C (n.1-15345A>C) c.6142A>C (p.Ser2048Arg) c.6688A>C (p.Ser2230Arg) c.6505A>C (p.Ser2169Arg) c.6226A>C (p.Ser2076Arg) c.5269A>C (p.Ser1757Arg) c.5260A>C (p.Ser1754Arg) | |
| 5 | g.37049233A>G | CA359508971 | NIPBL | c.6886A>G (p.Ser2296Gly) c.1-15345A>G (n.1-15345A>G) c.6142A>G (p.Ser2048Gly) c.6688A>G (p.Ser2230Gly) c.6505A>G (p.Ser2169Gly) c.6226A>G (p.Ser2076Gly) c.5269A>G (p.Ser1757Gly) c.5260A>G (p.Ser1754Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049233A>T | CA359508970 | NIPBL | c.6886A>T (p.Ser2296Cys) c.1-15345A>T (n.1-15345A>T) c.6142A>T (p.Ser2048Cys) c.6688A>T (p.Ser2230Cys) c.6505A>T (p.Ser2169Cys) c.6226A>T (p.Ser2076Cys) c.5269A>T (p.Ser1757Cys) c.5260A>T (p.Ser1754Cys) | ClinVar dbSNP |
| 5 | g.37049234G>A | CA359508973 | NIPBL | c.6887G>A (p.Ser2296Asn) c.1-15344G>A (n.1-15344G>A) c.6143G>A (p.Ser2048Asn) c.6689G>A (p.Ser2230Asn) c.6506G>A (p.Ser2169Asn) c.6227G>A (p.Ser2076Asn) c.5270G>A (p.Ser1757Asn) c.5261G>A (p.Ser1754Asn) | gnomAD v4 |
| 5 | g.37049234G>C | CA359508974 | NIPBL | c.6887G>C (p.Ser2296Thr) c.1-15344G>C (n.1-15344G>C) c.6143G>C (p.Ser2048Thr) c.6689G>C (p.Ser2230Thr) c.6506G>C (p.Ser2169Thr) c.6227G>C (p.Ser2076Thr) c.5270G>C (p.Ser1757Thr) c.5261G>C (p.Ser1754Thr) | |
| 5 | g.37049234G>T | CA359508975 | NIPBL | c.6887G>T (p.Ser2296Ile) c.1-15344G>T (n.1-15344G>T) c.6143G>T (p.Ser2048Ile) c.6689G>T (p.Ser2230Ile) c.6506G>T (p.Ser2169Ile) c.6227G>T (p.Ser2076Ile) c.5270G>T (p.Ser1757Ile) c.5261G>T (p.Ser1754Ile) | |
| 5 | g.37049235T>A | CA359508976 | NIPBL | c.6888T>A (p.Ser2296Arg) c.1-15343T>A (n.1-15343T>A) c.6144T>A (p.Ser2048Arg) c.6690T>A (p.Ser2230Arg) c.6507T>A (p.Ser2169Arg) c.6228T>A (p.Ser2076Arg) c.5271T>A (p.Ser1757Arg) c.5262T>A (p.Ser1754Arg) | |
| 5 | g.37049235T>C | CA117049335 | NIPBL | c.6888T>C (p.Ser2296=) c.1-15343T>C (n.1-15343T>C) c.6144T>C (p.Ser2048=) c.6690T>C (p.Ser2230=) c.6507T>C (p.Ser2169=) c.6228T>C (p.Ser2076=) c.5271T>C (p.Ser1757=) c.5262T>C (p.Ser1754=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37049235T>G | CA359508977 | NIPBL | c.6888T>G (p.Ser2296Arg) c.1-15343T>G (n.1-15343T>G) c.6144T>G (p.Ser2048Arg) c.6690T>G (p.Ser2230Arg) c.6507T>G (p.Ser2169Arg) c.6228T>G (p.Ser2076Arg) c.5271T>G (p.Ser1757Arg) c.5262T>G (p.Ser1754Arg) | |
| 5 | g.37049235T= | CA1539568441 | NIPBL | c.6888T= (p.Ser2296=) c.1-15343T= (n.1-15343T=) c.6144T= (p.Ser2048=) c.6690T= (p.Ser2230=) c.6507T= (p.Ser2169=) c.6228T= (p.Ser2076=) c.5271T= (p.Ser1757=) c.5262T= (p.Ser1754=) | |
| 5 | g.37049236G>A | CA359508978 | NIPBL | c.6889G>A (p.Val2297Ile) c.1-15342G>A (n.1-15342G>A) c.6145G>A (p.Val2049Ile) c.6691G>A (p.Val2231Ile) c.6508G>A (p.Val2170Ile) c.6229G>A (p.Val2077Ile) c.5272G>A (p.Val1758Ile) c.5263G>A (p.Val1755Ile) | |
| 5 | g.37049236G>C | CA359508979 | NIPBL | c.6889G>C (p.Val2297Leu) c.1-15342G>C (n.1-15342G>C) c.6145G>C (p.Val2049Leu) c.6691G>C (p.Val2231Leu) c.6508G>C (p.Val2170Leu) c.6229G>C (p.Val2077Leu) c.5272G>C (p.Val1758Leu) c.5263G>C (p.Val1755Leu) | |
| 5 | g.37049236G>T | CA359508980 | NIPBL | c.6889G>T (p.Val2297Leu) c.1-15342G>T (n.1-15342G>T) c.6145G>T (p.Val2049Leu) c.6691G>T (p.Val2231Leu) c.6508G>T (p.Val2170Leu) c.6229G>T (p.Val2077Leu) c.5272G>T (p.Val1758Leu) c.5263G>T (p.Val1755Leu) | |
| 5 | g.37049237T>A | CA359508981 | NIPBL | c.6890T>A (p.Val2297Glu) c.1-15341T>A (n.1-15341T>A) c.6146T>A (p.Val2049Glu) c.6692T>A (p.Val2231Glu) c.6509T>A (p.Val2170Glu) c.6230T>A (p.Val2077Glu) c.5273T>A (p.Val1758Glu) c.5264T>A (p.Val1755Glu) | |
| 5 | g.37049237T>C | CA359508982 | NIPBL | c.6890T>C (p.Val2297Ala) c.1-15341T>C (n.1-15341T>C) c.6146T>C (p.Val2049Ala) c.6692T>C (p.Val2231Ala) c.6509T>C (p.Val2170Ala) c.6230T>C (p.Val2077Ala) c.5273T>C (p.Val1758Ala) c.5264T>C (p.Val1755Ala) | |
| 5 | g.37049237T>G | CA359508983 | NIPBL | c.6890T>G (p.Val2297Gly) c.1-15341T>G (n.1-15341T>G) c.6146T>G (p.Val2049Gly) c.6692T>G (p.Val2231Gly) c.6509T>G (p.Val2170Gly) c.6230T>G (p.Val2077Gly) c.5273T>G (p.Val1758Gly) c.5264T>G (p.Val1755Gly) | |
| 5 | g.37049238A>C | CA443908276 | NIPBL | c.6891A>C (p.Val2297=) c.1-15340A>C (n.1-15340A>C) c.6147A>C (p.Val2049=) c.6693A>C (p.Val2231=) c.6510A>C (p.Val2170=) c.6231A>C (p.Val2077=) c.5274A>C (p.Val1758=) c.5265A>C (p.Val1755=) | |
| 5 | g.37049238A>G | CA443908272 | NIPBL | c.6891A>G (p.Val2297=) c.1-15340A>G (n.1-15340A>G) c.6147A>G (p.Val2049=) c.6693A>G (p.Val2231=) c.6510A>G (p.Val2170=) c.6231A>G (p.Val2077=) c.5274A>G (p.Val1758=) c.5265A>G (p.Val1755=) | COSMIC COSMIC |
| 5 | g.37049238A>T | CA443908274 | NIPBL | c.6891A>T (p.Val2297=) c.1-15340A>T (n.1-15340A>T) c.6147A>T (p.Val2049=) c.6693A>T (p.Val2231=) c.6510A>T (p.Val2170=) c.6231A>T (p.Val2077=) c.5274A>T (p.Val1758=) c.5265A>T (p.Val1755=) | |
| 5 | g.37049239C>A | CA359508984 | NIPBL | c.6892C>A (p.Arg2298Ser) c.1-15339C>A (n.1-15339C>A) c.6148C>A (p.Arg2050Ser) c.6694C>A (p.Arg2232Ser) c.6511C>A (p.Arg2171Ser) c.6232C>A (p.Arg2078Ser) c.5275C>A (p.Arg1759Ser) c.5266C>A (p.Arg1756Ser) | |
| 5 | g.37049239C= | CA1539568449 | NIPBL | c.6892C= (p.Arg2298=) c.1-15339C= (n.1-15339C=) c.6148C= (p.Arg2050=) c.6694C= (p.Arg2232=) c.6511C= (p.Arg2171=) c.6232C= (p.Arg2078=) c.5275C= (p.Arg1759=) c.5266C= (p.Arg1756=) | |
| 5 | g.37049239C>G | CA267557 | NIPBL | c.6892C>G (p.Arg2298Gly) c.1-15339C>G (n.1-15339C>G) c.6148C>G (p.Arg2050Gly) c.6694C>G (p.Arg2232Gly) c.6511C>G (p.Arg2171Gly) c.6232C>G (p.Arg2078Gly) c.5275C>G (p.Arg1759Gly) c.5266C>G (p.Arg1756Gly) | ClinVar dbSNP |
| 5 | g.37049239C>T | CA272264 | NIPBL | c.6892C>T (p.Arg2298Cys) c.1-15339C>T (n.1-15339C>T) c.6148C>T (p.Arg2050Cys) c.6694C>T (p.Arg2232Cys) c.6511C>T (p.Arg2171Cys) c.6232C>T (p.Arg2078Cys) c.5275C>T (p.Arg1759Cys) c.5266C>T (p.Arg1756Cys) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37049240G>A | CA272266 | NIPBL | c.6893G>A (p.Arg2298His) c.1-15338G>A (n.1-15338G>A) c.6149G>A (p.Arg2050His) c.6695G>A (p.Arg2232His) c.6512G>A (p.Arg2171His) c.6233G>A (p.Arg2078His) c.5276G>A (p.Arg1759His) c.5267G>A (p.Arg1756His) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37049240G>C | CA359508985 | NIPBL | c.6893G>C (p.Arg2298Pro) c.1-15338G>C (n.1-15338G>C) c.6149G>C (p.Arg2050Pro) c.6695G>C (p.Arg2232Pro) c.6512G>C (p.Arg2171Pro) c.6233G>C (p.Arg2078Pro) c.5276G>C (p.Arg1759Pro) c.5267G>C (p.Arg1756Pro) | |
| 5 | g.37049240G= | CA1539568457 | NIPBL | c.6893G= (p.Arg2298=) c.1-15338G= (n.1-15338G=) c.6149G= (p.Arg2050=) c.6695G= (p.Arg2232=) c.6512G= (p.Arg2171=) c.6233G= (p.Arg2078=) c.5276G= (p.Arg1759=) c.5267G= (p.Arg1756=) | |
| 5 | g.37049240G>T | CA359508986 | NIPBL | c.6893G>T (p.Arg2298Leu) c.1-15338G>T (n.1-15338G>T) c.6149G>T (p.Arg2050Leu) c.6695G>T (p.Arg2232Leu) c.6512G>T (p.Arg2171Leu) c.6233G>T (p.Arg2078Leu) c.5276G>T (p.Arg1759Leu) c.5267G>T (p.Arg1756Leu) | |
| 5 | g.37049241C>A | CA443908289 | NIPBL | c.6894C>A (p.Arg2298=) c.1-15337C>A (n.1-15337C>A) c.6150C>A (p.Arg2050=) c.6696C>A (p.Arg2232=) c.6513C>A (p.Arg2171=) c.6234C>A (p.Arg2078=) c.5277C>A (p.Arg1759=) c.5268C>A (p.Arg1756=) | |
| 5 | g.37049241C= | CA1539568466 | NIPBL | c.6894C= (p.Arg2298=) c.1-15337C= (n.1-15337C=) c.6150C= (p.Arg2050=) c.6696C= (p.Arg2232=) c.6513C= (p.Arg2171=) c.6234C= (p.Arg2078=) c.5277C= (p.Arg1759=) c.5268C= (p.Arg1756=) | |
| 5 | g.37049241C>G | CA443908290 | NIPBL | c.6894C>G (p.Arg2298=) c.1-15337C>G (n.1-15337C>G) c.6150C>G (p.Arg2050=) c.6696C>G (p.Arg2232=) c.6513C>G (p.Arg2171=) c.6234C>G (p.Arg2078=) c.5277C>G (p.Arg1759=) c.5268C>G (p.Arg1756=) | |
| 5 | g.37049241C>T | CA117049355 | NIPBL | c.6894C>T (p.Arg2298=) c.1-15337C>T (n.1-15337C>T) c.6150C>T (p.Arg2050=) c.6696C>T (p.Arg2232=) c.6513C>T (p.Arg2171=) c.6234C>T (p.Arg2078=) c.5277C>T (p.Arg1759=) c.5268C>T (p.Arg1756=) | dbSNP gnomAD v4 |
| 5 | g.37049242C>A | CA359508987 | NIPBL | c.6895C>A (p.His2299Asn) c.1-15336C>A (n.1-15336C>A) c.6151C>A (p.His2051Asn) c.6697C>A (p.His2233Asn) c.6514C>A (p.His2172Asn) c.6235C>A (p.His2079Asn) c.5278C>A (p.His1760Asn) c.5269C>A (p.His1757Asn) | |
| 5 | g.37049242C>G | CA359508988 | NIPBL | c.6895C>G (p.His2299Asp) c.1-15336C>G (n.1-15336C>G) c.6151C>G (p.His2051Asp) c.6697C>G (p.His2233Asp) c.6514C>G (p.His2172Asp) c.6235C>G (p.His2079Asp) c.5278C>G (p.His1760Asp) c.5269C>G (p.His1757Asp) | |
| 5 | g.37049242C>T | CA359508989 | NIPBL | c.6895C>T (p.His2299Tyr) c.1-15336C>T (n.1-15336C>T) c.6151C>T (p.His2051Tyr) c.6697C>T (p.His2233Tyr) c.6514C>T (p.His2172Tyr) c.6235C>T (p.His2079Tyr) c.5278C>T (p.His1760Tyr) c.5269C>T (p.His1757Tyr) | |
| 5 | g.37049243A>C | CA359508990 | NIPBL | c.6896A>C (p.His2299Pro) c.1-15335A>C (n.1-15335A>C) c.6152A>C (p.His2051Pro) c.6698A>C (p.His2233Pro) c.6515A>C (p.His2172Pro) c.6236A>C (p.His2079Pro) c.5279A>C (p.His1760Pro) c.5270A>C (p.His1757Pro) | |
| 5 | g.37049243A>G | CA359508991 | NIPBL | c.6896A>G (p.His2299Arg) c.1-15335A>G (n.1-15335A>G) c.6152A>G (p.His2051Arg) c.6698A>G (p.His2233Arg) c.6515A>G (p.His2172Arg) c.6236A>G (p.His2079Arg) c.5279A>G (p.His1760Arg) c.5270A>G (p.His1757Arg) | |
| 5 | g.37049243A>T | CA359508992 | NIPBL | c.6896A>T (p.His2299Leu) c.1-15335A>T (n.1-15335A>T) c.6152A>T (p.His2051Leu) c.6698A>T (p.His2233Leu) c.6515A>T (p.His2172Leu) c.6236A>T (p.His2079Leu) c.5279A>T (p.His1760Leu) c.5270A>T (p.His1757Leu) | |
| 5 | g.37049244C>A | CA359508993 | NIPBL | c.6897C>A (p.His2299Gln) c.1-15334C>A (n.1-15334C>A) c.6153C>A (p.His2051Gln) c.6699C>A (p.His2233Gln) c.6516C>A (p.His2172Gln) c.6237C>A (p.His2079Gln) c.5280C>A (p.His1760Gln) c.5271C>A (p.His1757Gln) | |
| 5 | g.37049244C>G | CA359508994 | NIPBL | c.6897C>G (p.His2299Gln) c.1-15334C>G (n.1-15334C>G) c.6153C>G (p.His2051Gln) c.6699C>G (p.His2233Gln) c.6516C>G (p.His2172Gln) c.6237C>G (p.His2079Gln) c.5280C>G (p.His1760Gln) c.5271C>G (p.His1757Gln) | |
| 5 | g.37049244C>T | CA443908305 | NIPBL | c.6897C>T (p.His2299=) c.1-15334C>T (n.1-15334C>T) c.6153C>T (p.His2051=) c.6699C>T (p.His2233=) c.6516C>T (p.His2172=) c.6237C>T (p.His2079=) c.5280C>T (p.His1760=) c.5271C>T (p.His1757=) | |
| 5 | g.37049245T>A | CA359508997 | NIPBL | c.6898T>A (p.Phe2300Ile) c.1-15333T>A (n.1-15333T>A) c.6154T>A (p.Phe2052Ile) c.6700T>A (p.Phe2234Ile) c.6517T>A (p.Phe2173Ile) c.6238T>A (p.Phe2080Ile) c.5281T>A (p.Phe1761Ile) c.5272T>A (p.Phe1758Ile) | |
| 5 | g.37049245T>C | CA359508995 | NIPBL | c.6898T>C (p.Phe2300Leu) c.1-15333T>C (n.1-15333T>C) c.6154T>C (p.Phe2052Leu) c.6700T>C (p.Phe2234Leu) c.6517T>C (p.Phe2173Leu) c.6238T>C (p.Phe2080Leu) c.5281T>C (p.Phe1761Leu) c.5272T>C (p.Phe1758Leu) | |
| 5 | g.37049245T>G | CA359508996 | NIPBL | c.6898T>G (p.Phe2300Val) c.1-15333T>G (n.1-15333T>G) c.6154T>G (p.Phe2052Val) c.6700T>G (p.Phe2234Val) c.6517T>G (p.Phe2173Val) c.6238T>G (p.Phe2080Val) c.5281T>G (p.Phe1761Val) c.5272T>G (p.Phe1758Val) | |
| 5 | g.37049246T>A | CA359508998 | NIPBL | c.6899T>A (p.Phe2300Tyr) c.1-15332T>A (n.1-15332T>A) c.6155T>A (p.Phe2052Tyr) c.6701T>A (p.Phe2234Tyr) c.6518T>A (p.Phe2173Tyr) c.6239T>A (p.Phe2080Tyr) c.5282T>A (p.Phe1761Tyr) c.5273T>A (p.Phe1758Tyr) | |
| 5 | g.37049246T>C | CA359508999 | NIPBL | c.6899T>C (p.Phe2300Ser) c.1-15332T>C (n.1-15332T>C) c.6155T>C (p.Phe2052Ser) c.6701T>C (p.Phe2234Ser) c.6518T>C (p.Phe2173Ser) c.6239T>C (p.Phe2080Ser) c.5282T>C (p.Phe1761Ser) c.5273T>C (p.Phe1758Ser) | |
| 5 | g.37049246T>G | CA359509000 | NIPBL | c.6899T>G (p.Phe2300Cys) c.1-15332T>G (n.1-15332T>G) c.6155T>G (p.Phe2052Cys) c.6701T>G (p.Phe2234Cys) c.6518T>G (p.Phe2173Cys) c.6239T>G (p.Phe2080Cys) c.5282T>G (p.Phe1761Cys) c.5273T>G (p.Phe1758Cys) | |
| 5 | g.37049247T>A | CA359509001 | NIPBL | c.6900T>A (p.Phe2300Leu) c.1-15331T>A (n.1-15331T>A) c.6156T>A (p.Phe2052Leu) c.6702T>A (p.Phe2234Leu) c.6519T>A (p.Phe2173Leu) c.6240T>A (p.Phe2080Leu) c.5283T>A (p.Phe1761Leu) c.5274T>A (p.Phe1758Leu) | |
| 5 | g.37049247T>C | CA443908320 | NIPBL | c.6900T>C (p.Phe2300=) c.1-15331T>C (n.1-15331T>C) c.6156T>C (p.Phe2052=) c.6702T>C (p.Phe2234=) c.6519T>C (p.Phe2173=) c.6240T>C (p.Phe2080=) c.5283T>C (p.Phe1761=) c.5274T>C (p.Phe1758=) | |
| 5 | g.37049247T>G | CA359509002 | NIPBL | c.6900T>G (p.Phe2300Leu) c.1-15331T>G (n.1-15331T>G) c.6156T>G (p.Phe2052Leu) c.6702T>G (p.Phe2234Leu) c.6519T>G (p.Phe2173Leu) c.6240T>G (p.Phe2080Leu) c.5283T>G (p.Phe1761Leu) c.5274T>G (p.Phe1758Leu) | |
| 5 | g.37049248G>A | CA359509003 | NIPBL | c.6901G>A (p.Ala2301Thr) c.1-15330G>A (n.1-15330G>A) c.6157G>A (p.Ala2053Thr) c.6703G>A (p.Ala2235Thr) c.6520G>A (p.Ala2174Thr) c.6241G>A (p.Ala2081Thr) c.5284G>A (p.Ala1762Thr) c.5275G>A (p.Ala1759Thr) | |
| 5 | g.37049248G>C | CA359509004 | NIPBL | c.6901G>C (p.Ala2301Pro) c.1-15330G>C (n.1-15330G>C) c.6157G>C (p.Ala2053Pro) c.6703G>C (p.Ala2235Pro) c.6520G>C (p.Ala2174Pro) c.6241G>C (p.Ala2081Pro) c.5284G>C (p.Ala1762Pro) c.5275G>C (p.Ala1759Pro) | |
| 5 | g.37049248G>T | CA359509005 | NIPBL | c.6901G>T (p.Ala2301Ser) c.1-15330G>T (n.1-15330G>T) c.6157G>T (p.Ala2053Ser) c.6703G>T (p.Ala2235Ser) c.6520G>T (p.Ala2174Ser) c.6241G>T (p.Ala2081Ser) c.5284G>T (p.Ala1762Ser) c.5275G>T (p.Ala1759Ser) | |
| 5 | g.37049249C>A | CA359509006 | NIPBL | c.6902C>A (p.Ala2301Asp) c.1-15329C>A (n.1-15329C>A) c.6158C>A (p.Ala2053Asp) c.6704C>A (p.Ala2235Asp) c.6521C>A (p.Ala2174Asp) c.6242C>A (p.Ala2081Asp) c.5285C>A (p.Ala1762Asp) c.5276C>A (p.Ala1759Asp) | |
| 5 | g.37049249C>G | CA359509007 | NIPBL | c.6902C>G (p.Ala2301Gly) c.1-15329C>G (n.1-15329C>G) c.6158C>G (p.Ala2053Gly) c.6704C>G (p.Ala2235Gly) c.6521C>G (p.Ala2174Gly) c.6242C>G (p.Ala2081Gly) c.5285C>G (p.Ala1762Gly) c.5276C>G (p.Ala1759Gly) | |
| 5 | g.37049249C>T | CA359509008 | NIPBL | c.6902C>T (p.Ala2301Val) c.1-15329C>T (n.1-15329C>T) c.6158C>T (p.Ala2053Val) c.6704C>T (p.Ala2235Val) c.6521C>T (p.Ala2174Val) c.6242C>T (p.Ala2081Val) c.5285C>T (p.Ala1762Val) c.5276C>T (p.Ala1759Val) | |
| 5 | g.37049250C>A | CA443908336 | NIPBL | c.6903C>A (p.Ala2301=) c.1-15328C>A (n.1-15328C>A) c.6159C>A (p.Ala2053=) c.6705C>A (p.Ala2235=) c.6522C>A (p.Ala2174=) c.6243C>A (p.Ala2081=) c.5286C>A (p.Ala1762=) c.5277C>A (p.Ala1759=) | |
| 5 | g.37049250C= | CA1539568475 | NIPBL | c.6903C= (p.Ala2301=) c.1-15328C= (n.1-15328C=) c.6159C= (p.Ala2053=) c.6705C= (p.Ala2235=) c.6522C= (p.Ala2174=) c.6243C= (p.Ala2081=) c.5286C= (p.Ala1762=) c.5277C= (p.Ala1759=) | |
| 5 | g.37049250C>G | CA443908338 | NIPBL | c.6903C>G (p.Ala2301=) c.1-15328C>G (n.1-15328C>G) c.6159C>G (p.Ala2053=) c.6705C>G (p.Ala2235=) c.6522C>G (p.Ala2174=) c.6243C>G (p.Ala2081=) c.5286C>G (p.Ala1762=) c.5277C>G (p.Ala1759=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049250C>T | CA443908340 | NIPBL | c.6903C>T (p.Ala2301=) c.1-15328C>T (n.1-15328C>T) c.6159C>T (p.Ala2053=) c.6705C>T (p.Ala2235=) c.6522C>T (p.Ala2174=) c.6243C>T (p.Ala2081=) c.5286C>T (p.Ala1762=) c.5277C>T (p.Ala1759=) | |
| 5 | g.37049251C>A | CA359509010 | NIPBL | c.6904C>A (p.Leu2302Ile) c.1-15327C>A (n.1-15327C>A) c.6160C>A (p.Leu2054Ile) c.6706C>A (p.Leu2236Ile) c.6523C>A (p.Leu2175Ile) c.6244C>A (p.Leu2082Ile) c.5287C>A (p.Leu1763Ile) c.5278C>A (p.Leu1760Ile) | |
| 5 | g.37049251C= | CA1539568476 | NIPBL | c.6904C= (p.Leu2302=) c.1-15327C= (n.1-15327C=) c.6160C= (p.Leu2054=) c.6706C= (p.Leu2236=) c.6523C= (p.Leu2175=) c.6244C= (p.Leu2082=) c.5287C= (p.Leu1763=) c.5278C= (p.Leu1760=) | |
| 5 | g.37049251C>G | CA359509009 | NIPBL | c.6904C>G (p.Leu2302Val) c.1-15327C>G (n.1-15327C>G) c.6160C>G (p.Leu2054Val) c.6706C>G (p.Leu2236Val) c.6523C>G (p.Leu2175Val) c.6244C>G (p.Leu2082Val) c.5287C>G (p.Leu1763Val) c.5278C>G (p.Leu1760Val) | |
| 5 | g.37049251C>T | CA3237081 | NIPBL | c.6904C>T (p.Leu2302=) c.1-15327C>T (n.1-15327C>T) c.6160C>T (p.Leu2054=) c.6706C>T (p.Leu2236=) c.6523C>T (p.Leu2175=) c.6244C>T (p.Leu2082=) c.5287C>T (p.Leu1763=) c.5278C>T (p.Leu1760=) | dbSNP ExAC gnomAD v2 |
| 5 | g.37049252T>A | CA359509011 | NIPBL | c.6905T>A (p.Leu2302Gln) c.1-15326T>A (n.1-15326T>A) c.6161T>A (p.Leu2054Gln) c.6707T>A (p.Leu2236Gln) c.6524T>A (p.Leu2175Gln) c.6245T>A (p.Leu2082Gln) c.5288T>A (p.Leu1763Gln) c.5279T>A (p.Leu1760Gln) | |
| 5 | g.37049252T>C | CA359509013 | NIPBL | c.6905T>C (p.Leu2302Pro) c.1-15326T>C (n.1-15326T>C) c.6161T>C (p.Leu2054Pro) c.6707T>C (p.Leu2236Pro) c.6524T>C (p.Leu2175Pro) c.6245T>C (p.Leu2082Pro) c.5288T>C (p.Leu1763Pro) c.5279T>C (p.Leu1760Pro) | |
| 5 | g.37049252T>G | CA359509012 | NIPBL | c.6905T>G (p.Leu2302Arg) c.1-15326T>G (n.1-15326T>G) c.6161T>G (p.Leu2054Arg) c.6707T>G (p.Leu2236Arg) c.6524T>G (p.Leu2175Arg) c.6245T>G (p.Leu2082Arg) c.5288T>G (p.Leu1763Arg) c.5279T>G (p.Leu1760Arg) | |
| 5 | g.37049253A>C | CA443908350 | NIPBL | c.6906A>C (p.Leu2302=) c.1-15325A>C (n.1-15325A>C) c.6162A>C (p.Leu2054=) c.6708A>C (p.Leu2236=) c.6525A>C (p.Leu2175=) c.6246A>C (p.Leu2082=) c.5289A>C (p.Leu1763=) c.5280A>C (p.Leu1760=) | |
| 5 | g.37049253A>G | CA443908352 | NIPBL | c.6906A>G (p.Leu2302=) c.1-15325A>G (n.1-15325A>G) c.6162A>G (p.Leu2054=) c.6708A>G (p.Leu2236=) c.6525A>G (p.Leu2175=) c.6246A>G (p.Leu2082=) c.5289A>G (p.Leu1763=) c.5280A>G (p.Leu1760=) | |
| 5 | g.37049253A>T | CA443908355 | NIPBL | c.6906A>T (p.Leu2302=) c.1-15325A>T (n.1-15325A>T) c.6162A>T (p.Leu2054=) c.6708A>T (p.Leu2236=) c.6525A>T (p.Leu2175=) c.6246A>T (p.Leu2082=) c.5289A>T (p.Leu1763=) c.5280A>T (p.Leu1760=) | |
| 5 | g.37049254A>C | CA359509014 | NIPBL | c.6907A>C (p.Asn2303His) c.1-15324A>C (n.1-15324A>C) c.6163A>C (p.Asn2055His) c.6709A>C (p.Asn2237His) c.6526A>C (p.Asn2176His) c.6247A>C (p.Asn2083His) c.5290A>C (p.Asn1764His) c.5281A>C (p.Asn1761His) | |
| 5 | g.37049254A>G | CA359509015 | NIPBL | c.6907A>G (p.Asn2303Asp) c.1-15324A>G (n.1-15324A>G) c.6163A>G (p.Asn2055Asp) c.6709A>G (p.Asn2237Asp) c.6526A>G (p.Asn2176Asp) c.6247A>G (p.Asn2083Asp) c.5290A>G (p.Asn1764Asp) c.5281A>G (p.Asn1761Asp) | |
| 5 | g.37049254A>T | CA359509016 | NIPBL | c.6907A>T (p.Asn2303Tyr) c.1-15324A>T (n.1-15324A>T) c.6163A>T (p.Asn2055Tyr) c.6709A>T (p.Asn2237Tyr) c.6526A>T (p.Asn2176Tyr) c.6247A>T (p.Asn2083Tyr) c.5290A>T (p.Asn1764Tyr) c.5281A>T (p.Asn1761Tyr) | |
| 5 | g.37049255A= | CA1539568480 | NIPBL | c.6908A= (p.Asn2303=) c.1-15323A= (n.1-15323A=) c.6164A= (p.Asn2055=) c.6710A= (p.Asn2237=) c.6527A= (p.Asn2176=) c.6248A= (p.Asn2083=) c.5291A= (p.Asn1764=) c.5282A= (p.Asn1761=) | |
| 5 | g.37049255A>C | CA359509017 | NIPBL | c.6908A>C (p.Asn2303Thr) c.1-15323A>C (n.1-15323A>C) c.6164A>C (p.Asn2055Thr) c.6710A>C (p.Asn2237Thr) c.6527A>C (p.Asn2176Thr) c.6248A>C (p.Asn2083Thr) c.5291A>C (p.Asn1764Thr) c.5282A>C (p.Asn1761Thr) | |
| 5 | g.37049255A>G | CA3237082 | NIPBL | c.6908A>G (p.Asn2303Ser) c.1-15323A>G (n.1-15323A>G) c.6164A>G (p.Asn2055Ser) c.6710A>G (p.Asn2237Ser) c.6527A>G (p.Asn2176Ser) c.6248A>G (p.Asn2083Ser) c.5291A>G (p.Asn1764Ser) c.5282A>G (p.Asn1761Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049255A>T | CA359509018 | NIPBL | c.6908A>T (p.Asn2303Ile) c.1-15323A>T (n.1-15323A>T) c.6164A>T (p.Asn2055Ile) c.6710A>T (p.Asn2237Ile) c.6527A>T (p.Asn2176Ile) c.6248A>T (p.Asn2083Ile) c.5291A>T (p.Asn1764Ile) c.5282A>T (p.Asn1761Ile) | |
| 5 | g.37049256T>A | CA359509019 | NIPBL | c.6909T>A (p.Asn2303Lys) c.1-15322T>A (n.1-15322T>A) c.6165T>A (p.Asn2055Lys) c.6711T>A (p.Asn2237Lys) c.6528T>A (p.Asn2176Lys) c.6249T>A (p.Asn2083Lys) c.5292T>A (p.Asn1764Lys) c.5283T>A (p.Asn1761Lys) | |
| 5 | g.37049256T>C | CA443908367 | NIPBL | c.6909T>C (p.Asn2303=) c.1-15322T>C (n.1-15322T>C) c.6165T>C (p.Asn2055=) c.6711T>C (p.Asn2237=) c.6528T>C (p.Asn2176=) c.6249T>C (p.Asn2083=) c.5292T>C (p.Asn1764=) c.5283T>C (p.Asn1761=) | |
| 5 | g.37049256T>G | CA359509020 | NIPBL | c.6909T>G (p.Asn2303Lys) c.1-15322T>G (n.1-15322T>G) c.6165T>G (p.Asn2055Lys) c.6711T>G (p.Asn2237Lys) c.6528T>G (p.Asn2176Lys) c.6249T>G (p.Asn2083Lys) c.5292T>G (p.Asn1764Lys) c.5283T>G (p.Asn1761Lys) | |
| 5 | g.37049256_37049259delinsTGTC | CA1539568483 | NIPBL | c.6909_6912delinsTGTC (p.Asn2303=) c.1-15322_1-15319delinsTGTC (n.1-15322_1-15319delinsTGTC) c.6165_6168delinsTGTC (p.Asn2055=) c.6711_6714delinsTGTC (p.Asn2237=) c.6528_6531delinsTGTC (p.Asn2176=) c.6249_6252delinsTGTC (p.Asn2083=) c.5292_5295delinsTGTC (p.Asn1764=) c.5283_5286delinsTGTC (p.Asn1761=) | |
| 5 | g.37049257G>A | CA359509021 | NIPBL | c.6910G>A (p.Val2304Ile) c.1-15321G>A (n.1-15321G>A) c.6166G>A (p.Val2056Ile) c.6712G>A (p.Val2238Ile) c.6529G>A (p.Val2177Ile) c.6250G>A (p.Val2084Ile) c.5293G>A (p.Val1765Ile) c.5284G>A (p.Val1762Ile) | dbSNP |
| 5 | g.37049257G>C | CA359509022 | NIPBL | c.6910G>C (p.Val2304Leu) c.1-15321G>C (n.1-15321G>C) c.6166G>C (p.Val2056Leu) c.6712G>C (p.Val2238Leu) c.6529G>C (p.Val2177Leu) c.6250G>C (p.Val2084Leu) c.5293G>C (p.Val1765Leu) c.5284G>C (p.Val1762Leu) | |
| 5 | g.37049257G>T | CA359509023 | NIPBL | c.6910G>T (p.Val2304Phe) c.1-15321G>T (n.1-15321G>T) c.6166G>T (p.Val2056Phe) c.6712G>T (p.Val2238Phe) c.6529G>T (p.Val2177Phe) c.6250G>T (p.Val2084Phe) c.5293G>T (p.Val1765Phe) c.5284G>T (p.Val1762Phe) | |
| 5 | g.37049257_37049259del | CA559021912 | NIPBL | c.6910_6912del (p.Val2304del) c.1-15321_1-15319del (n.1-15321_1-15319del) c.6166_6168del (p.Val2056del) c.6712_6714del (p.Val2238del) c.6529_6531del (p.Val2177del) c.6250_6252del (p.Val2084del) c.5293_5295del (p.Val1765del) c.5284_5286del (p.Val1762del) | dbSNP gnomAD v2 |
| 5 | g.37049258T>A | CA359509026 | NIPBL | c.6911T>A (p.Val2304Asp) c.1-15320T>A (n.1-15320T>A) c.6167T>A (p.Val2056Asp) c.6713T>A (p.Val2238Asp) c.6530T>A (p.Val2177Asp) c.6251T>A (p.Val2084Asp) c.5294T>A (p.Val1765Asp) c.5285T>A (p.Val1762Asp) | |
| 5 | g.37049258T>C | CA359509024 | NIPBL | c.6911T>C (p.Val2304Ala) c.1-15320T>C (n.1-15320T>C) c.6167T>C (p.Val2056Ala) c.6713T>C (p.Val2238Ala) c.6530T>C (p.Val2177Ala) c.6251T>C (p.Val2084Ala) c.5294T>C (p.Val1765Ala) c.5285T>C (p.Val1762Ala) | |
| 5 | g.37049258T>G | CA359509025 | NIPBL | c.6911T>G (p.Val2304Gly) c.1-15320T>G (n.1-15320T>G) c.6167T>G (p.Val2056Gly) c.6713T>G (p.Val2238Gly) c.6530T>G (p.Val2177Gly) c.6251T>G (p.Val2084Gly) c.5294T>G (p.Val1765Gly) c.5285T>G (p.Val1762Gly) | ClinVar dbSNP |
| 5 | g.37049259C>A | CA443908385 | NIPBL | c.6912C>A (p.Val2304=) c.1-15319C>A (n.1-15319C>A) c.6168C>A (p.Val2056=) c.6714C>A (p.Val2238=) c.6531C>A (p.Val2177=) c.6252C>A (p.Val2084=) c.5295C>A (p.Val1765=) c.5286C>A (p.Val1762=) | |
| 5 | g.37049259C= | CA1539568486 | NIPBL | c.6912C= (p.Val2304=) c.1-15319C= (n.1-15319C=) c.6168C= (p.Val2056=) c.6714C= (p.Val2238=) c.6531C= (p.Val2177=) c.6252C= (p.Val2084=) c.5295C= (p.Val1765=) c.5286C= (p.Val1762=) | |
| 5 | g.37049259C>G | CA443908383 | NIPBL | c.6912C>G (p.Val2304=) c.1-15319C>G (n.1-15319C>G) c.6168C>G (p.Val2056=) c.6714C>G (p.Val2238=) c.6531C>G (p.Val2177=) c.6252C>G (p.Val2084=) c.5295C>G (p.Val1765=) c.5286C>G (p.Val1762=) | |
| 5 | g.37049259C>T | CA443908381 | NIPBL | c.6912C>T (p.Val2304=) c.1-15319C>T (n.1-15319C>T) c.6168C>T (p.Val2056=) c.6714C>T (p.Val2238=) c.6531C>T (p.Val2177=) c.6252C>T (p.Val2084=) c.5295C>T (p.Val1765=) c.5286C>T (p.Val1762=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049260A>C | CA359509027 | NIPBL | c.6913A>C (p.Ile2305Leu) c.1-15318A>C (n.1-15318A>C) c.6169A>C (p.Ile2057Leu) c.6715A>C (p.Ile2239Leu) c.6532A>C (p.Ile2178Leu) c.6253A>C (p.Ile2085Leu) c.5296A>C (p.Ile1766Leu) c.5287A>C (p.Ile1763Leu) | gnomAD v4 |
| 5 | g.37049260A>G | CA359509028 | NIPBL | c.6913A>G (p.Ile2305Val) c.1-15318A>G (n.1-15318A>G) c.6169A>G (p.Ile2057Val) c.6715A>G (p.Ile2239Val) c.6532A>G (p.Ile2178Val) c.6253A>G (p.Ile2085Val) c.5296A>G (p.Ile1766Val) c.5287A>G (p.Ile1763Val) | |
| 5 | g.37049260A>T | CA359509029 | NIPBL | c.6913A>T (p.Ile2305Phe) c.1-15318A>T (n.1-15318A>T) c.6169A>T (p.Ile2057Phe) c.6715A>T (p.Ile2239Phe) c.6532A>T (p.Ile2178Phe) c.6253A>T (p.Ile2085Phe) c.5296A>T (p.Ile1766Phe) c.5287A>T (p.Ile1763Phe) | |
| 5 | g.37049261T>A | CA359509030 | NIPBL | c.6914T>A (p.Ile2305Asn) c.1-15317T>A (n.1-15317T>A) c.6170T>A (p.Ile2057Asn) c.6716T>A (p.Ile2239Asn) c.6533T>A (p.Ile2178Asn) c.6254T>A (p.Ile2085Asn) c.5297T>A (p.Ile1766Asn) c.5288T>A (p.Ile1763Asn) | |
| 5 | g.37049261T>C | CA359509031 | NIPBL | c.6914T>C (p.Ile2305Thr) c.1-15317T>C (n.1-15317T>C) c.6170T>C (p.Ile2057Thr) c.6716T>C (p.Ile2239Thr) c.6533T>C (p.Ile2178Thr) c.6254T>C (p.Ile2085Thr) c.5297T>C (p.Ile1766Thr) c.5288T>C (p.Ile1763Thr) | |
| 5 | g.37049261T>G | CA359509032 | NIPBL | c.6914T>G (p.Ile2305Ser) c.1-15317T>G (n.1-15317T>G) c.6170T>G (p.Ile2057Ser) c.6716T>G (p.Ile2239Ser) c.6533T>G (p.Ile2178Ser) c.6254T>G (p.Ile2085Ser) c.5297T>G (p.Ile1766Ser) c.5288T>G (p.Ile1763Ser) | |
| 5 | g.37049262T>A | CA443908397 | NIPBL | c.6915T>A (p.Ile2305=) c.1-15316T>A (n.1-15316T>A) c.6171T>A (p.Ile2057=) c.6717T>A (p.Ile2239=) c.6534T>A (p.Ile2178=) c.6255T>A (p.Ile2085=) c.5298T>A (p.Ile1766=) c.5289T>A (p.Ile1763=) | |
| 5 | g.37049262T>C | CA443908399 | NIPBL | c.6915T>C (p.Ile2305=) c.1-15316T>C (n.1-15316T>C) c.6171T>C (p.Ile2057=) c.6717T>C (p.Ile2239=) c.6534T>C (p.Ile2178=) c.6255T>C (p.Ile2085=) c.5298T>C (p.Ile1766=) c.5289T>C (p.Ile1763=) | |
| 5 | g.37049262T>G | CA359509033 | NIPBL | c.6915T>G (p.Ile2305Met) c.1-15316T>G (n.1-15316T>G) c.6171T>G (p.Ile2057Met) c.6717T>G (p.Ile2239Met) c.6534T>G (p.Ile2178Met) c.6255T>G (p.Ile2085Met) c.5298T>G (p.Ile1766Met) c.5289T>G (p.Ile1763Met) | |
| 5 | g.37049263G>A | CA359509034 | NIPBL | c.6916G>A (p.Ala2306Thr) c.1-15315G>A (n.1-15315G>A) c.6172G>A (p.Ala2058Thr) c.6718G>A (p.Ala2240Thr) c.6535G>A (p.Ala2179Thr) c.6256G>A (p.Ala2086Thr) c.5299G>A (p.Ala1767Thr) c.5290G>A (p.Ala1764Thr) | gnomAD v4 |
| 5 | g.37049263G>C | CA359509035 | NIPBL | c.6916G>C (p.Ala2306Pro) c.1-15315G>C (n.1-15315G>C) c.6172G>C (p.Ala2058Pro) c.6718G>C (p.Ala2240Pro) c.6535G>C (p.Ala2179Pro) c.6256G>C (p.Ala2086Pro) c.5299G>C (p.Ala1767Pro) c.5290G>C (p.Ala1764Pro) | |
| 5 | g.37049263G>T | CA359509036 | NIPBL | c.6916G>T (p.Ala2306Ser) c.1-15315G>T (n.1-15315G>T) c.6172G>T (p.Ala2058Ser) c.6718G>T (p.Ala2240Ser) c.6535G>T (p.Ala2179Ser) c.6256G>T (p.Ala2086Ser) c.5299G>T (p.Ala1767Ser) c.5290G>T (p.Ala1764Ser) | |
| 5 | g.37049264C>A | CA359509038 | NIPBL | c.6917C>A (p.Ala2306Glu) c.1-15314C>A (n.1-15314C>A) c.6173C>A (p.Ala2058Glu) c.6719C>A (p.Ala2240Glu) c.6536C>A (p.Ala2179Glu) c.6257C>A (p.Ala2086Glu) c.5300C>A (p.Ala1767Glu) c.5291C>A (p.Ala1764Glu) | |
| 5 | g.37049264C>G | CA359509039 | NIPBL | c.6917C>G (p.Ala2306Gly) c.1-15314C>G (n.1-15314C>G) c.6173C>G (p.Ala2058Gly) c.6719C>G (p.Ala2240Gly) c.6536C>G (p.Ala2179Gly) c.6257C>G (p.Ala2086Gly) c.5300C>G (p.Ala1767Gly) c.5291C>G (p.Ala1764Gly) | |
| 5 | g.37049264C>T | CA359509037 | NIPBL | c.6917C>T (p.Ala2306Val) c.1-15314C>T (n.1-15314C>T) c.6173C>T (p.Ala2058Val) c.6719C>T (p.Ala2240Val) c.6536C>T (p.Ala2179Val) c.6257C>T (p.Ala2086Val) c.5300C>T (p.Ala1767Val) c.5291C>T (p.Ala1764Val) | gnomAD v4 |
| 5 | g.37049265A= | CA1539568489 | NIPBL | c.6918A= (p.Ala2306=) c.1-15313A= (n.1-15313A=) c.6174A= (p.Ala2058=) c.6720A= (p.Ala2240=) c.6537A= (p.Ala2179=) c.6258A= (p.Ala2086=) c.5301A= (p.Ala1767=) c.5292A= (p.Ala1764=) | |
| 5 | g.37049265A>C | CA443908412 | NIPBL | c.6918A>C (p.Ala2306=) c.1-15313A>C (n.1-15313A>C) c.6174A>C (p.Ala2058=) c.6720A>C (p.Ala2240=) c.6537A>C (p.Ala2179=) c.6258A>C (p.Ala2086=) c.5301A>C (p.Ala1767=) c.5292A>C (p.Ala1764=) | |
| 5 | g.37049265A>G | CA443908414 | NIPBL | c.6918A>G (p.Ala2306=) c.1-15313A>G (n.1-15313A>G) c.6174A>G (p.Ala2058=) c.6720A>G (p.Ala2240=) c.6537A>G (p.Ala2179=) c.6258A>G (p.Ala2086=) c.5301A>G (p.Ala1767=) c.5292A>G (p.Ala1764=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049265A>T | CA443908416 | NIPBL | c.6918A>T (p.Ala2306=) c.1-15313A>T (n.1-15313A>T) c.6174A>T (p.Ala2058=) c.6720A>T (p.Ala2240=) c.6537A>T (p.Ala2179=) c.6258A>T (p.Ala2086=) c.5301A>T (p.Ala1767=) c.5292A>T (p.Ala1764=) | |
| 5 | g.37049266T>A | CA359509040 | NIPBL | c.6919T>A (p.Leu2307Met) c.1-15312T>A (n.1-15312T>A) c.6175T>A (p.Leu2059Met) c.6721T>A (p.Leu2241Met) c.6538T>A (p.Leu2180Met) c.6259T>A (p.Leu2087Met) c.5302T>A (p.Leu1768Met) c.5293T>A (p.Leu1765Met) | |
| 5 | g.37049266T>C | CA443908420 | NIPBL | c.6919T>C (p.Leu2307=) c.1-15312T>C (n.1-15312T>C) c.6175T>C (p.Leu2059=) c.6721T>C (p.Leu2241=) c.6538T>C (p.Leu2180=) c.6259T>C (p.Leu2087=) c.5302T>C (p.Leu1768=) c.5293T>C (p.Leu1765=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37049266T>G | CA359509041 | NIPBL | c.6919T>G (p.Leu2307Val) c.1-15312T>G (n.1-15312T>G) c.6175T>G (p.Leu2059Val) c.6721T>G (p.Leu2241Val) c.6538T>G (p.Leu2180Val) c.6259T>G (p.Leu2087Val) c.5302T>G (p.Leu1768Val) c.5293T>G (p.Leu1765Val) | |
| 5 | g.37049266T= | CA1539568493 | NIPBL | c.6919T= (p.Leu2307=) c.1-15312T= (n.1-15312T=) c.6175T= (p.Leu2059=) c.6721T= (p.Leu2241=) c.6538T= (p.Leu2180=) c.6259T= (p.Leu2087=) c.5302T= (p.Leu1768=) c.5293T= (p.Leu1765=) | |
| 5 | g.37049267T>A | CA359509042 | NIPBL | c.6920T>A (p.Leu2307Ter) c.1-15311T>A (n.1-15311T>A) c.6176T>A (p.Leu2059Ter) c.6722T>A (p.Leu2241Ter) c.6539T>A (p.Leu2180Ter) c.6260T>A (p.Leu2087Ter) c.5303T>A (p.Leu1768Ter) c.5294T>A (p.Leu1765Ter) | |
| 5 | g.37049267T>C | CA359509043 | NIPBL | c.6920T>C (p.Leu2307Ser) c.1-15311T>C (n.1-15311T>C) c.6176T>C (p.Leu2059Ser) c.6722T>C (p.Leu2241Ser) c.6539T>C (p.Leu2180Ser) c.6260T>C (p.Leu2087Ser) c.5303T>C (p.Leu1768Ser) c.5294T>C (p.Leu1765Ser) | |
| 5 | g.37049267T>G | CA359509044 | NIPBL | c.6920T>G (p.Leu2307Trp) c.1-15311T>G (n.1-15311T>G) c.6176T>G (p.Leu2059Trp) c.6722T>G (p.Leu2241Trp) c.6539T>G (p.Leu2180Trp) c.6260T>G (p.Leu2087Trp) c.5303T>G (p.Leu1768Trp) c.5294T>G (p.Leu1765Trp) | |
| 5 | g.37049268G>A | CA443908428 | NIPBL | c.6921G>A (p.Leu2307=) c.1-15310G>A (n.1-15310G>A) c.6177G>A (p.Leu2059=) c.6723G>A (p.Leu2241=) c.6540G>A (p.Leu2180=) c.6261G>A (p.Leu2087=) c.5304G>A (p.Leu1768=) c.5295G>A (p.Leu1765=) | |
| 5 | g.37049268G>C | CA359509045 | NIPBL | c.6921G>C (p.Leu2307Phe) c.1-15310G>C (n.1-15310G>C) c.6177G>C (p.Leu2059Phe) c.6723G>C (p.Leu2241Phe) c.6540G>C (p.Leu2180Phe) c.6261G>C (p.Leu2087Phe) c.5304G>C (p.Leu1768Phe) c.5295G>C (p.Leu1765Phe) | ClinVar dbSNP |
| 5 | g.37049268G= | CA1539568499 | NIPBL | c.6921G= (p.Leu2307=) c.1-15310G= (n.1-15310G=) c.6177G= (p.Leu2059=) c.6723G= (p.Leu2241=) c.6540G= (p.Leu2180=) c.6261G= (p.Leu2087=) c.5304G= (p.Leu1768=) c.5295G= (p.Leu1765=) | |
| 5 | g.37049268G>T | CA359509046 | NIPBL | c.6921G>T (p.Leu2307Phe) c.1-15310G>T (n.1-15310G>T) c.6177G>T (p.Leu2059Phe) c.6723G>T (p.Leu2241Phe) c.6540G>T (p.Leu2180Phe) c.6261G>T (p.Leu2087Phe) c.5304G>T (p.Leu1768Phe) c.5295G>T (p.Leu1765Phe) | |
| 5 | g.37049269A>C | CA359509047 | NIPBL | c.6922A>C (p.Thr2308Pro) c.1-15309A>C (n.1-15309A>C) c.6178A>C (p.Thr2060Pro) c.6724A>C (p.Thr2242Pro) c.6541A>C (p.Thr2181Pro) c.6262A>C (p.Thr2088Pro) c.5305A>C (p.Thr1769Pro) c.5296A>C (p.Thr1766Pro) | |
| 5 | g.37049269A>G | CA359509048 | NIPBL | c.6922A>G (p.Thr2308Ala) c.1-15309A>G (n.1-15309A>G) c.6178A>G (p.Thr2060Ala) c.6724A>G (p.Thr2242Ala) c.6541A>G (p.Thr2181Ala) c.6262A>G (p.Thr2088Ala) c.5305A>G (p.Thr1769Ala) c.5296A>G (p.Thr1766Ala) | |
| 5 | g.37049269A>T | CA359509049 | NIPBL | c.6922A>T (p.Thr2308Ser) c.1-15309A>T (n.1-15309A>T) c.6178A>T (p.Thr2060Ser) c.6724A>T (p.Thr2242Ser) c.6541A>T (p.Thr2181Ser) c.6262A>T (p.Thr2088Ser) c.5305A>T (p.Thr1769Ser) c.5296A>T (p.Thr1766Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37049270_37049274del | CA2695198599 | NIPBL | c.6923_6927del (p.Thr2308LysfsTer30) c.1-15308_1-15304del (n.1-15308_1-15304del) c.6179_6183del (p.Thr2060LysfsTer30) c.6725_6729del (p.Thr2242LysfsTer30) c.6542_6546del (p.Thr2181LysfsTer30) c.6263_6267del (p.Thr2088LysfsTer30) c.5306_5310del (p.Thr1769LysfsTer30) c.5297_5301del (p.Thr1766LysfsTer30) | ClinVar |
| 5 | g.37049270C>A | CA359509050 | NIPBL | c.6923C>A (p.Thr2308Asn) c.1-15308C>A (n.1-15308C>A) c.6179C>A (p.Thr2060Asn) c.6725C>A (p.Thr2242Asn) c.6542C>A (p.Thr2181Asn) c.6263C>A (p.Thr2088Asn) c.5306C>A (p.Thr1769Asn) c.5297C>A (p.Thr1766Asn) | |
| 5 | g.37049270C>G | CA359509051 | NIPBL | c.6923C>G (p.Thr2308Ser) c.1-15308C>G (n.1-15308C>G) c.6179C>G (p.Thr2060Ser) c.6725C>G (p.Thr2242Ser) c.6542C>G (p.Thr2181Ser) c.6263C>G (p.Thr2088Ser) c.5306C>G (p.Thr1769Ser) c.5297C>G (p.Thr1766Ser) | |
| 5 | g.37049270C>T | CA359509052 | NIPBL | c.6923C>T (p.Thr2308Ile) c.1-15308C>T (n.1-15308C>T) c.6179C>T (p.Thr2060Ile) c.6725C>T (p.Thr2242Ile) c.6542C>T (p.Thr2181Ile) c.6263C>T (p.Thr2088Ile) c.5306C>T (p.Thr1769Ile) c.5297C>T (p.Thr1766Ile) | |
| 5 | g.37049271T>A | CA443908440 | NIPBL | c.6924T>A (p.Thr2308=) c.1-15307T>A (n.1-15307T>A) c.6180T>A (p.Thr2060=) c.6726T>A (p.Thr2242=) c.6543T>A (p.Thr2181=) c.6264T>A (p.Thr2088=) c.5307T>A (p.Thr1769=) c.5298T>A (p.Thr1766=) | |
| 5 | g.37049271T>C | CA443908442 | NIPBL | c.6924T>C (p.Thr2308=) c.1-15307T>C (n.1-15307T>C) c.6180T>C (p.Thr2060=) c.6726T>C (p.Thr2242=) c.6543T>C (p.Thr2181=) c.6264T>C (p.Thr2088=) c.5307T>C (p.Thr1769=) c.5298T>C (p.Thr1766=) | ClinVar gnomAD v4 |
| 5 | g.37049271T>G | CA443908444 | NIPBL | c.6924T>G (p.Thr2308=) c.1-15307T>G (n.1-15307T>G) c.6180T>G (p.Thr2060=) c.6726T>G (p.Thr2242=) c.6543T>G (p.Thr2181=) c.6264T>G (p.Thr2088=) c.5307T>G (p.Thr1769=) c.5298T>G (p.Thr1766=) | |
| 5 | g.37049272C>A | CA359509054 | NIPBL | c.6925C>A (p.Leu2309Ile) c.1-15306C>A (n.1-15306C>A) c.6181C>A (p.Leu2061Ile) c.6727C>A (p.Leu2243Ile) c.6544C>A (p.Leu2182Ile) c.6265C>A (p.Leu2089Ile) c.5308C>A (p.Leu1770Ile) c.5299C>A (p.Leu1767Ile) | |
| 5 | g.37049272C>G | CA359509053 | NIPBL | c.6925C>G (p.Leu2309Val) c.1-15306C>G (n.1-15306C>G) c.6181C>G (p.Leu2061Val) c.6727C>G (p.Leu2243Val) c.6544C>G (p.Leu2182Val) c.6265C>G (p.Leu2089Val) c.5308C>G (p.Leu1770Val) c.5299C>G (p.Leu1767Val) | gnomAD v4 |
| 5 | g.37049272C>T | CA443908449 | NIPBL | c.6925C>T (p.Leu2309=) c.1-15306C>T (n.1-15306C>T) c.6181C>T (p.Leu2061=) c.6727C>T (p.Leu2243=) c.6544C>T (p.Leu2182=) c.6265C>T (p.Leu2089=) c.5308C>T (p.Leu1770=) c.5299C>T (p.Leu1767=) | |
| 5 | g.37049273T>A | CA359509055 | NIPBL | c.6926T>A (p.Leu2309Gln) c.1-15305T>A (n.1-15305T>A) c.6182T>A (p.Leu2061Gln) c.6728T>A (p.Leu2243Gln) c.6545T>A (p.Leu2182Gln) c.6266T>A (p.Leu2089Gln) c.5309T>A (p.Leu1770Gln) c.5300T>A (p.Leu1767Gln) | |
| 5 | g.37049273T>C | CA359509057 | NIPBL | c.6926T>C (p.Leu2309Pro) c.1-15305T>C (n.1-15305T>C) c.6182T>C (p.Leu2061Pro) c.6728T>C (p.Leu2243Pro) c.6545T>C (p.Leu2182Pro) c.6266T>C (p.Leu2089Pro) c.5309T>C (p.Leu1770Pro) c.5300T>C (p.Leu1767Pro) | |
| 5 | g.37049273T>G | CA359509058 | NIPBL | c.6926T>G (p.Leu2309Arg) c.1-15305T>G (n.1-15305T>G) c.6182T>G (p.Leu2061Arg) c.6728T>G (p.Leu2243Arg) c.6545T>G (p.Leu2182Arg) c.6266T>G (p.Leu2089Arg) c.5309T>G (p.Leu1770Arg) c.5300T>G (p.Leu1767Arg) | |
| 5 | g.37049274A= | CA1539568502 | NIPBL | c.6927A= (p.Leu2309=) c.1-15304A= (n.1-15304A=) c.6183A= (p.Leu2061=) c.6729A= (p.Leu2243=) c.6546A= (p.Leu2182=) c.6267A= (p.Leu2089=) c.5310A= (p.Leu1770=) c.5301A= (p.Leu1767=) | |
| 5 | g.37049274A>C | CA443908457 | NIPBL | c.6927A>C (p.Leu2309=) c.1-15304A>C (n.1-15304A>C) c.6183A>C (p.Leu2061=) c.6729A>C (p.Leu2243=) c.6546A>C (p.Leu2182=) c.6267A>C (p.Leu2089=) c.5310A>C (p.Leu1770=) c.5301A>C (p.Leu1767=) | dbSNP |
| 5 | g.37049274A>G | CA443908459 | NIPBL | c.6927A>G (p.Leu2309=) c.1-15304A>G (n.1-15304A>G) c.6183A>G (p.Leu2061=) c.6729A>G (p.Leu2243=) c.6546A>G (p.Leu2182=) c.6267A>G (p.Leu2089=) c.5310A>G (p.Leu1770=) c.5301A>G (p.Leu1767=) | |
| 5 | g.37049274A>T | CA443908461 | NIPBL | c.6927A>T (p.Leu2309=) c.1-15304A>T (n.1-15304A>T) c.6183A>T (p.Leu2061=) c.6729A>T (p.Leu2243=) c.6546A>T (p.Leu2182=) c.6267A>T (p.Leu2089=) c.5310A>T (p.Leu1770=) c.5301A>T (p.Leu1767=) | |
| 5 | g.37049275A>C | CA359509060 | NIPBL | c.6928A>C (p.Asn2310His) c.1-15303A>C (n.1-15303A>C) c.6184A>C (p.Asn2062His) c.6730A>C (p.Asn2244His) c.6547A>C (p.Asn2183His) c.6268A>C (p.Asn2090His) c.5311A>C (p.Asn1771His) c.5302A>C (p.Asn1768His) | |
| 5 | g.37049275A>G | CA359509061 | NIPBL | c.6928A>G (p.Asn2310Asp) c.1-15303A>G (n.1-15303A>G) c.6184A>G (p.Asn2062Asp) c.6730A>G (p.Asn2244Asp) c.6547A>G (p.Asn2183Asp) c.6268A>G (p.Asn2090Asp) c.5311A>G (p.Asn1771Asp) c.5302A>G (p.Asn1768Asp) | |
| 5 | g.37049275A>T | CA359509063 | NIPBL | c.6928A>T (p.Asn2310Tyr) c.1-15303A>T (n.1-15303A>T) c.6184A>T (p.Asn2062Tyr) c.6730A>T (p.Asn2244Tyr) c.6547A>T (p.Asn2183Tyr) c.6268A>T (p.Asn2090Tyr) c.5311A>T (p.Asn1771Tyr) c.5302A>T (p.Asn1768Tyr) | |
| 5 | g.37049276A>C | CA359509065 | NIPBL | c.6929A>C (p.Asn2310Thr) c.1-15302A>C (n.1-15302A>C) c.6185A>C (p.Asn2062Thr) c.6731A>C (p.Asn2244Thr) c.6548A>C (p.Asn2183Thr) c.6269A>C (p.Asn2090Thr) c.5312A>C (p.Asn1771Thr) c.5303A>C (p.Asn1768Thr) | |
| 5 | g.37049276A>G | CA359509066 | NIPBL | c.6929A>G (p.Asn2310Ser) c.1-15302A>G (n.1-15302A>G) c.6185A>G (p.Asn2062Ser) c.6731A>G (p.Asn2244Ser) c.6548A>G (p.Asn2183Ser) c.6269A>G (p.Asn2090Ser) c.5312A>G (p.Asn1771Ser) c.5303A>G (p.Asn1768Ser) | gnomAD v4 |
| 5 | g.37049276A>T | CA359509067 | NIPBL | c.6929A>T (p.Asn2310Ile) c.1-15302A>T (n.1-15302A>T) c.6185A>T (p.Asn2062Ile) c.6731A>T (p.Asn2244Ile) c.6548A>T (p.Asn2183Ile) c.6269A>T (p.Asn2090Ile) c.5312A>T (p.Asn1771Ile) c.5303A>T (p.Asn1768Ile) | |
| 5 | g.37049277T>A | CA359509069 | NIPBL | c.6930T>A (p.Asn2310Lys) c.1-15301T>A (n.1-15301T>A) c.6186T>A (p.Asn2062Lys) c.6732T>A (p.Asn2244Lys) c.6549T>A (p.Asn2183Lys) c.6270T>A (p.Asn2090Lys) c.5313T>A (p.Asn1771Lys) c.5304T>A (p.Asn1768Lys) | |
| 5 | g.37049277T>C | CA443908469 | NIPBL | c.6930T>C (p.Asn2310=) c.1-15301T>C (n.1-15301T>C) c.6186T>C (p.Asn2062=) c.6732T>C (p.Asn2244=) c.6549T>C (p.Asn2183=) c.6270T>C (p.Asn2090=) c.5313T>C (p.Asn1771=) c.5304T>C (p.Asn1768=) | |
| 5 | g.37049277T>G | CA359509070 | NIPBL | c.6930T>G (p.Asn2310Lys) c.1-15301T>G (n.1-15301T>G) c.6186T>G (p.Asn2062Lys) c.6732T>G (p.Asn2244Lys) c.6549T>G (p.Asn2183Lys) c.6270T>G (p.Asn2090Lys) c.5313T>G (p.Asn1771Lys) c.5304T>G (p.Asn1768Lys) | |
| 5 | g.37049278_37049285del | CA645546381 | NIPBL | c.6931_6938del (p.Gln2311TyrfsTer26) c.1-15300_1-15293del (n.1-15300_1-15293del) c.6187_6194del (p.Gln2063TyrfsTer26) c.6733_6740del (p.Gln2245TyrfsTer26) c.6550_6557del (p.Gln2184TyrfsTer26) c.6271_6278del (p.Gln2091TyrfsTer26) c.5314_5321del (p.Gln1772TyrfsTer26) c.5305_5312del (p.Gln1769TyrfsTer26) | COSMIC COSMIC |
| 5 | g.37049277_37049278insTAGGCCATAA | CA443908473 | NIPBL | c.6930_6931insTAGGCCATAA (p.Gln2311Ter) c.1-15301_1-15300insTAGGCCATAA (n.1-15301_1-15300insTAGGCCATAA) c.6186_6187insTAGGCCATAA (p.Gln2063Ter) c.6732_6733insTAGGCCATAA (p.Gln2245Ter) c.6549_6550insTAGGCCATAA (p.Gln2184Ter) c.6270_6271insTAGGCCATAA (p.Gln2091Ter) c.5313_5314insTAGGCCATAA (p.Gln1772Ter) c.5304_5305insTAGGCCATAA (p.Gln1769Ter) | |
| 5 | g.37049278C>A | CA359509071 | NIPBL | c.6931C>A (p.Gln2311Lys) c.1-15300C>A (n.1-15300C>A) c.6187C>A (p.Gln2063Lys) c.6733C>A (p.Gln2245Lys) c.6550C>A (p.Gln2184Lys) c.6271C>A (p.Gln2091Lys) c.5314C>A (p.Gln1772Lys) c.5305C>A (p.Gln1769Lys) | |
| 5 | g.37049278C>G | CA359509073 | NIPBL | c.6931C>G (p.Gln2311Glu) c.1-15300C>G (n.1-15300C>G) c.6187C>G (p.Gln2063Glu) c.6733C>G (p.Gln2245Glu) c.6550C>G (p.Gln2184Glu) c.6271C>G (p.Gln2091Glu) c.5314C>G (p.Gln1772Glu) c.5305C>G (p.Gln1769Glu) | |
| 5 | g.37049278C>T | CA359509075 | NIPBL | c.6931C>T (p.Gln2311Ter) c.1-15300C>T (n.1-15300C>T) c.6187C>T (p.Gln2063Ter) c.6733C>T (p.Gln2245Ter) c.6550C>T (p.Gln2184Ter) c.6271C>T (p.Gln2091Ter) c.5314C>T (p.Gln1772Ter) c.5305C>T (p.Gln1769Ter) | |
| 5 | g.37049279A= | CA1539568509 | NIPBL | c.6932A= (p.Gln2311=) c.1-15299A= (n.1-15299A=) c.6188A= (p.Gln2063=) c.6734A= (p.Gln2245=) c.6551A= (p.Gln2184=) c.6272A= (p.Gln2091=) c.5315A= (p.Gln1772=) c.5306A= (p.Gln1769=) | |
| 5 | g.37049279A>C | CA359509078 | NIPBL | c.6932A>C (p.Gln2311Pro) c.1-15299A>C (n.1-15299A>C) c.6188A>C (p.Gln2063Pro) c.6734A>C (p.Gln2245Pro) c.6551A>C (p.Gln2184Pro) c.6272A>C (p.Gln2091Pro) c.5315A>C (p.Gln1772Pro) c.5306A>C (p.Gln1769Pro) | |
| 5 | g.37049279A>G | CA359509080 | NIPBL | c.6932A>G (p.Gln2311Arg) c.1-15299A>G (n.1-15299A>G) c.6188A>G (p.Gln2063Arg) c.6734A>G (p.Gln2245Arg) c.6551A>G (p.Gln2184Arg) c.6272A>G (p.Gln2091Arg) c.5315A>G (p.Gln1772Arg) c.5306A>G (p.Gln1769Arg) | |
| 5 | g.37049279A>T | CA359509077 | NIPBL | c.6932A>T (p.Gln2311Leu) c.1-15299A>T (n.1-15299A>T) c.6188A>T (p.Gln2063Leu) c.6734A>T (p.Gln2245Leu) c.6551A>T (p.Gln2184Leu) c.6272A>T (p.Gln2091Leu) c.5315A>T (p.Gln1772Leu) c.5306A>T (p.Gln1769Leu) | |
| 5 | g.37049279_37049280insCAAAACGTTAC | CA559021981 | NIPBL | c.6932_6933insCAAAACGTTAC (p.Gln2311HisfsTer17) c.1-15299_1-15298insCAAAACGTTAC (n.1-15299_1-15298insCAAAACGTTAC) c.6188_6189insCAAAACGTTAC (p.Gln2063HisfsTer17) c.6734_6735insCAAAACGTTAC (p.Gln2245HisfsTer17) c.6551_6552insCAAAACGTTAC (p.Gln2184HisfsTer17) c.6272_6273insCAAAACGTTAC (p.Gln2091HisfsTer17) c.5315_5316insCAAAACGTTAC (p.Gln1772HisfsTer17) c.5306_5307insCAAAACGTTAC (p.Gln1769HisfsTer17) | dbSNP gnomAD v2 |
| 5 | g.37049280A>C | CA359509083 | NIPBL | c.6933A>C (p.Gln2311His) c.1-15298A>C (n.1-15298A>C) c.6189A>C (p.Gln2063His) c.6735A>C (p.Gln2245His) c.6552A>C (p.Gln2184His) c.6273A>C (p.Gln2091His) c.5316A>C (p.Gln1772His) c.5307A>C (p.Gln1769His) | |
| 5 | g.37049280A>G | CA443908483 | NIPBL | c.6933A>G (p.Gln2311=) c.1-15298A>G (n.1-15298A>G) c.6189A>G (p.Gln2063=) c.6735A>G (p.Gln2245=) c.6552A>G (p.Gln2184=) c.6273A>G (p.Gln2091=) c.5316A>G (p.Gln1772=) c.5307A>G (p.Gln1769=) | |
| 5 | g.37049280A>T | CA359509081 | NIPBL | c.6933A>T (p.Gln2311His) c.1-15298A>T (n.1-15298A>T) c.6189A>T (p.Gln2063His) c.6735A>T (p.Gln2245His) c.6552A>T (p.Gln2184His) c.6273A>T (p.Gln2091His) c.5316A>T (p.Gln1772His) c.5307A>T (p.Gln1769His) | |
| 5 | g.37049281G>A | CA359509088 | NIPBL | c.6934G>A (p.Gly2312Ser) c.1-15297G>A (n.1-15297G>A) c.6190G>A (p.Gly2064Ser) c.6736G>A (p.Gly2246Ser) c.6553G>A (p.Gly2185Ser) c.6274G>A (p.Gly2092Ser) c.5317G>A (p.Gly1773Ser) c.5308G>A (p.Gly1770Ser) | |
| 5 | g.37049281G>C | CA359509084 | NIPBL | c.6934G>C (p.Gly2312Arg) c.1-15297G>C (n.1-15297G>C) c.6190G>C (p.Gly2064Arg) c.6736G>C (p.Gly2246Arg) c.6553G>C (p.Gly2185Arg) c.6274G>C (p.Gly2092Arg) c.5317G>C (p.Gly1773Arg) c.5308G>C (p.Gly1770Arg) | |
| 5 | g.37049281G>T | CA359509086 | NIPBL | c.6934G>T (p.Gly2312Cys) c.1-15297G>T (n.1-15297G>T) c.6190G>T (p.Gly2064Cys) c.6736G>T (p.Gly2246Cys) c.6553G>T (p.Gly2185Cys) c.6274G>T (p.Gly2092Cys) c.5317G>T (p.Gly1773Cys) c.5308G>T (p.Gly1770Cys) | |
| 5 | g.37049282G>A | CA359509089 | NIPBL | c.6935G>A (p.Gly2312Asp) c.1-15296G>A (n.1-15296G>A) c.6191G>A (p.Gly2064Asp) c.6737G>A (p.Gly2246Asp) c.6554G>A (p.Gly2185Asp) c.6275G>A (p.Gly2092Asp) c.5318G>A (p.Gly1773Asp) c.5309G>A (p.Gly1770Asp) | |
| 5 | g.37049282G>C | CA359509091 | NIPBL | c.6935G>C (p.Gly2312Ala) c.1-15296G>C (n.1-15296G>C) c.6191G>C (p.Gly2064Ala) c.6737G>C (p.Gly2246Ala) c.6554G>C (p.Gly2185Ala) c.6275G>C (p.Gly2092Ala) c.5318G>C (p.Gly1773Ala) c.5309G>C (p.Gly1770Ala) | |
| 5 | g.37049282G= | CA1539568515 | NIPBL | c.6935G= (p.Gly2312=) c.1-15296G= (n.1-15296G=) c.6191G= (p.Gly2064=) c.6737G= (p.Gly2246=) c.6554G= (p.Gly2185=) c.6275G= (p.Gly2092=) c.5318G= (p.Gly1773=) c.5309G= (p.Gly1770=) | |
| 5 | g.37049282G>T | CA272268 | NIPBL | c.6935G>T (p.Gly2312Val) c.1-15296G>T (n.1-15296G>T) c.6191G>T (p.Gly2064Val) c.6737G>T (p.Gly2246Val) c.6554G>T (p.Gly2185Val) c.6275G>T (p.Gly2092Val) c.5318G>T (p.Gly1773Val) c.5309G>T (p.Gly1770Val) | ClinVar dbSNP |
| 5 | g.37049283T>A | CA443908496 | NIPBL | c.6936T>A (p.Gly2312=) c.1-15295T>A (n.1-15295T>A) c.6192T>A (p.Gly2064=) c.6738T>A (p.Gly2246=) c.6555T>A (p.Gly2185=) c.6276T>A (p.Gly2092=) c.5319T>A (p.Gly1773=) c.5310T>A (p.Gly1770=) | |
| 5 | g.37049283T>C | CA443908499 | NIPBL | c.6936T>C (p.Gly2312=) c.1-15295T>C (n.1-15295T>C) c.6192T>C (p.Gly2064=) c.6738T>C (p.Gly2246=) c.6555T>C (p.Gly2185=) c.6276T>C (p.Gly2092=) c.5319T>C (p.Gly1773=) c.5310T>C (p.Gly1770=) | |
| 5 | g.37049283T>G | CA443908501 | NIPBL | c.6936T>G (p.Gly2312=) c.1-15295T>G (n.1-15295T>G) c.6192T>G (p.Gly2064=) c.6738T>G (p.Gly2246=) c.6555T>G (p.Gly2185=) c.6276T>G (p.Gly2092=) c.5319T>G (p.Gly1773=) c.5310T>G (p.Gly1770=) | |
| 5 | g.37049284C>A | CA359509093 | NIPBL | c.6937C>A (p.Leu2313Ile) c.1-15294C>A (n.1-15294C>A) c.6193C>A (p.Leu2065Ile) c.6739C>A (p.Leu2247Ile) c.6556C>A (p.Leu2186Ile) c.6277C>A (p.Leu2093Ile) c.5320C>A (p.Leu1774Ile) c.5311C>A (p.Leu1771Ile) | |
| 5 | g.37049284C>G | CA359509095 | NIPBL | c.6937C>G (p.Leu2313Val) c.1-15294C>G (n.1-15294C>G) c.6193C>G (p.Leu2065Val) c.6739C>G (p.Leu2247Val) c.6556C>G (p.Leu2186Val) c.6277C>G (p.Leu2093Val) c.5320C>G (p.Leu1774Val) c.5311C>G (p.Leu1771Val) | |
| 5 | g.37049284C>T | CA359509096 | NIPBL | c.6937C>T (p.Leu2313Phe) c.1-15294C>T (n.1-15294C>T) c.6193C>T (p.Leu2065Phe) c.6739C>T (p.Leu2247Phe) c.6556C>T (p.Leu2186Phe) c.6277C>T (p.Leu2093Phe) c.5320C>T (p.Leu1774Phe) c.5311C>T (p.Leu1771Phe) | |
| 5 | g.37049285T>A | CA359509097 | NIPBL | c.6938T>A (p.Leu2313His) c.1-15293T>A (n.1-15293T>A) c.6194T>A (p.Leu2065His) c.6740T>A (p.Leu2247His) c.6557T>A (p.Leu2186His) c.6278T>A (p.Leu2093His) c.5321T>A (p.Leu1774His) c.5312T>A (p.Leu1771His) | |
| 5 | g.37049285T>C | CA359509099 | NIPBL | c.6938T>C (p.Leu2313Pro) c.1-15293T>C (n.1-15293T>C) c.6194T>C (p.Leu2065Pro) c.6740T>C (p.Leu2247Pro) c.6557T>C (p.Leu2186Pro) c.6278T>C (p.Leu2093Pro) c.5321T>C (p.Leu1774Pro) c.5312T>C (p.Leu1771Pro) | |
| 5 | g.37049285T>G | CA359509101 | NIPBL | c.6938T>G (p.Leu2313Arg) c.1-15293T>G (n.1-15293T>G) c.6194T>G (p.Leu2065Arg) c.6740T>G (p.Leu2247Arg) c.6557T>G (p.Leu2186Arg) c.6278T>G (p.Leu2093Arg) c.5321T>G (p.Leu1774Arg) c.5312T>G (p.Leu1771Arg) | |
| 5 | g.37049286T>A | CA443908514 | NIPBL | c.6939T>A (p.Leu2313=) c.1-15292T>A (n.1-15292T>A) c.6195T>A (p.Leu2065=) c.6741T>A (p.Leu2247=) c.6558T>A (p.Leu2186=) c.6279T>A (p.Leu2093=) c.5322T>A (p.Leu1774=) c.5313T>A (p.Leu1771=) | |
| 5 | g.37049286T>C | CA443908512 | NIPBL | c.6939T>C (p.Leu2313=) c.1-15292T>C (n.1-15292T>C) c.6195T>C (p.Leu2065=) c.6741T>C (p.Leu2247=) c.6558T>C (p.Leu2186=) c.6279T>C (p.Leu2093=) c.5322T>C (p.Leu1774=) c.5313T>C (p.Leu1771=) | COSMIC COSMIC |
| 5 | g.37049286T>G | CA443908516 | NIPBL | c.6939T>G (p.Leu2313=) c.1-15292T>G (n.1-15292T>G) c.6195T>G (p.Leu2065=) c.6741T>G (p.Leu2247=) c.6558T>G (p.Leu2186=) c.6279T>G (p.Leu2093=) c.5322T>G (p.Leu1774=) c.5313T>G (p.Leu1771=) | |
| 5 | g.37049287A>C | CA359509105 | NIPBL | c.6940A>C (p.Ile2314Leu) c.1-15291A>C (n.1-15291A>C) c.6196A>C (p.Ile2066Leu) c.6742A>C (p.Ile2248Leu) c.6559A>C (p.Ile2187Leu) c.6280A>C (p.Ile2094Leu) c.5323A>C (p.Ile1775Leu) c.5314A>C (p.Ile1772Leu) | gnomAD v4 |
| 5 | g.37049287A>G | CA359509104 | NIPBL | c.6940A>G (p.Ile2314Val) c.1-15291A>G (n.1-15291A>G) c.6196A>G (p.Ile2066Val) c.6742A>G (p.Ile2248Val) c.6559A>G (p.Ile2187Val) c.6280A>G (p.Ile2094Val) c.5323A>G (p.Ile1775Val) c.5314A>G (p.Ile1772Val) | |
| 5 | g.37049287A>T | CA359509103 | NIPBL | c.6940A>T (p.Ile2314Phe) c.1-15291A>T (n.1-15291A>T) c.6196A>T (p.Ile2066Phe) c.6742A>T (p.Ile2248Phe) c.6559A>T (p.Ile2187Phe) c.6280A>T (p.Ile2094Phe) c.5323A>T (p.Ile1775Phe) c.5314A>T (p.Ile1772Phe) | gnomAD v4 |
| 5 | g.37049288T>A | CA359509106 | NIPBL | c.6941T>A (p.Ile2314Asn) c.1-15290T>A (n.1-15290T>A) c.6197T>A (p.Ile2066Asn) c.6743T>A (p.Ile2248Asn) c.6560T>A (p.Ile2187Asn) c.6281T>A (p.Ile2094Asn) c.5324T>A (p.Ile1775Asn) c.5315T>A (p.Ile1772Asn) | |
| 5 | g.37049288T>C | CA359509107 | NIPBL | c.6941T>C (p.Ile2314Thr) c.1-15290T>C (n.1-15290T>C) c.6197T>C (p.Ile2066Thr) c.6743T>C (p.Ile2248Thr) c.6560T>C (p.Ile2187Thr) c.6281T>C (p.Ile2094Thr) c.5324T>C (p.Ile1775Thr) c.5315T>C (p.Ile1772Thr) | gnomAD v4 |
| 5 | g.37049288T>G | CA359509109 | NIPBL | c.6941T>G (p.Ile2314Ser) c.1-15290T>G (n.1-15290T>G) c.6197T>G (p.Ile2066Ser) c.6743T>G (p.Ile2248Ser) c.6560T>G (p.Ile2187Ser) c.6281T>G (p.Ile2094Ser) c.5324T>G (p.Ile1775Ser) c.5315T>G (p.Ile1772Ser) | |
| 5 | g.37049289T>A | CA443908527 | NIPBL | c.6942T>A (p.Ile2314=) c.1-15289T>A (n.1-15289T>A) c.6198T>A (p.Ile2066=) c.6744T>A (p.Ile2248=) c.6561T>A (p.Ile2187=) c.6282T>A (p.Ile2094=) c.5325T>A (p.Ile1775=) c.5316T>A (p.Ile1772=) | |
| 5 | g.37049289T>C | CA443908528 | NIPBL | c.6942T>C (p.Ile2314=) c.1-15289T>C (n.1-15289T>C) c.6198T>C (p.Ile2066=) c.6744T>C (p.Ile2248=) c.6561T>C (p.Ile2187=) c.6282T>C (p.Ile2094=) c.5325T>C (p.Ile1775=) c.5316T>C (p.Ile1772=) | |
| 5 | g.37049289T>G | CA359509110 | NIPBL | c.6942T>G (p.Ile2314Met) c.1-15289T>G (n.1-15289T>G) c.6198T>G (p.Ile2066Met) c.6744T>G (p.Ile2248Met) c.6561T>G (p.Ile2187Met) c.6282T>G (p.Ile2094Met) c.5325T>G (p.Ile1775Met) c.5316T>G (p.Ile1772Met) | |
| 5 | g.37049290C>A | CA359509112 | NIPBL | c.6943C>A (p.His2315Asn) c.1-15288C>A (n.1-15288C>A) c.6199C>A (p.His2067Asn) c.6745C>A (p.His2249Asn) c.6562C>A (p.His2188Asn) c.6283C>A (p.His2095Asn) c.5326C>A (p.His1776Asn) c.5317C>A (p.His1773Asn) | dbSNP |
| 5 | g.37049290C= | CA1539568517 | NIPBL | c.6943C= (p.His2315=) c.1-15288C= (n.1-15288C=) c.6199C= (p.His2067=) c.6745C= (p.His2249=) c.6562C= (p.His2188=) c.6283C= (p.His2095=) c.5326C= (p.His1776=) c.5317C= (p.His1773=) | |
| 5 | g.37049290C>G | CA359509113 | NIPBL | c.6943C>G (p.His2315Asp) c.1-15288C>G (n.1-15288C>G) c.6199C>G (p.His2067Asp) c.6745C>G (p.His2249Asp) c.6562C>G (p.His2188Asp) c.6283C>G (p.His2095Asp) c.5326C>G (p.His1776Asp) c.5317C>G (p.His1773Asp) | |
| 5 | g.37049290C>T | CA359509114 | NIPBL | c.6943C>T (p.His2315Tyr) c.1-15288C>T (n.1-15288C>T) c.6199C>T (p.His2067Tyr) c.6745C>T (p.His2249Tyr) c.6562C>T (p.His2188Tyr) c.6283C>T (p.His2095Tyr) c.5326C>T (p.His1776Tyr) c.5317C>T (p.His1773Tyr) | |
| 5 | g.37049291A>C | CA359509116 | NIPBL | c.6944A>C (p.His2315Pro) c.1-15287A>C (n.1-15287A>C) c.6200A>C (p.His2067Pro) c.6746A>C (p.His2249Pro) c.6563A>C (p.His2188Pro) c.6284A>C (p.His2095Pro) c.5327A>C (p.His1776Pro) c.5318A>C (p.His1773Pro) | |
| 5 | g.37049291A>G | CA359509117 | NIPBL | c.6944A>G (p.His2315Arg) c.1-15287A>G (n.1-15287A>G) c.6200A>G (p.His2067Arg) c.6746A>G (p.His2249Arg) c.6563A>G (p.His2188Arg) c.6284A>G (p.His2095Arg) c.5327A>G (p.His1776Arg) c.5318A>G (p.His1773Arg) | |
| 5 | g.37049291A>T | CA359509118 | NIPBL | c.6944A>T (p.His2315Leu) c.1-15287A>T (n.1-15287A>T) c.6200A>T (p.His2067Leu) c.6746A>T (p.His2249Leu) c.6563A>T (p.His2188Leu) c.6284A>T (p.His2095Leu) c.5327A>T (p.His1776Leu) c.5318A>T (p.His1773Leu) | |
| 5 | g.37049292T>A | CA359509119 | NIPBL | c.6945T>A (p.His2315Gln) c.1-15286T>A (n.1-15286T>A) c.6201T>A (p.His2067Gln) c.6747T>A (p.His2249Gln) c.6564T>A (p.His2188Gln) c.6285T>A (p.His2095Gln) c.5328T>A (p.His1776Gln) c.5319T>A (p.His1773Gln) | |
| 5 | g.37049292T>C | CA443908541 | NIPBL | c.6945T>C (p.His2315=) c.1-15286T>C (n.1-15286T>C) c.6201T>C (p.His2067=) c.6747T>C (p.His2249=) c.6564T>C (p.His2188=) c.6285T>C (p.His2095=) c.5328T>C (p.His1776=) c.5319T>C (p.His1773=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.37049292T>G | CA359509121 | NIPBL | c.6945T>G (p.His2315Gln) c.1-15286T>G (n.1-15286T>G) c.6201T>G (p.His2067Gln) c.6747T>G (p.His2249Gln) c.6564T>G (p.His2188Gln) c.6285T>G (p.His2095Gln) c.5328T>G (p.His1776Gln) c.5319T>G (p.His1773Gln) | |
| 5 | g.37049292T= | CA1539568518 | NIPBL | c.6945T= (p.His2315=) c.1-15286T= (n.1-15286T=) c.6201T= (p.His2067=) c.6747T= (p.His2249=) c.6564T= (p.His2188=) c.6285T= (p.His2095=) c.5328T= (p.His1776=) c.5319T= (p.His1773=) | |
| 5 | g.37049293C>A | CA359509124 | NIPBL | c.6946C>A (p.Pro2316Thr) c.1-15285C>A (n.1-15285C>A) c.6202C>A (p.Pro2068Thr) c.6748C>A (p.Pro2250Thr) c.6565C>A (p.Pro2189Thr) c.6286C>A (p.Pro2096Thr) c.5329C>A (p.Pro1777Thr) c.5320C>A (p.Pro1774Thr) | |
| 5 | g.37049293C>G | CA359509125 | NIPBL | c.6946C>G (p.Pro2316Ala) c.1-15285C>G (n.1-15285C>G) c.6202C>G (p.Pro2068Ala) c.6748C>G (p.Pro2250Ala) c.6565C>G (p.Pro2189Ala) c.6286C>G (p.Pro2096Ala) c.5329C>G (p.Pro1777Ala) c.5320C>G (p.Pro1774Ala) | |
| 5 | g.37049293C>T | CA359509123 | NIPBL | c.6946C>T (p.Pro2316Ser) c.1-15285C>T (n.1-15285C>T) c.6202C>T (p.Pro2068Ser) c.6748C>T (p.Pro2250Ser) c.6565C>T (p.Pro2189Ser) c.6286C>T (p.Pro2096Ser) c.5329C>T (p.Pro1777Ser) c.5320C>T (p.Pro1774Ser) | |
| 5 | g.37049294C>A | CA359509127 | NIPBL | c.6947C>A (p.Pro2316Gln) c.1-15284C>A (n.1-15284C>A) c.6203C>A (p.Pro2068Gln) c.6749C>A (p.Pro2250Gln) c.6566C>A (p.Pro2189Gln) c.6287C>A (p.Pro2096Gln) c.5330C>A (p.Pro1777Gln) c.5321C>A (p.Pro1774Gln) | |
| 5 | g.37049294C>G | CA359509128 | NIPBL | c.6947C>G (p.Pro2316Arg) c.1-15284C>G (n.1-15284C>G) c.6203C>G (p.Pro2068Arg) c.6749C>G (p.Pro2250Arg) c.6566C>G (p.Pro2189Arg) c.6287C>G (p.Pro2096Arg) c.5330C>G (p.Pro1777Arg) c.5321C>G (p.Pro1774Arg) | |
| 5 | g.37049294C>T | CA359509130 | NIPBL | c.6947C>T (p.Pro2316Leu) c.1-15284C>T (n.1-15284C>T) c.6203C>T (p.Pro2068Leu) c.6749C>T (p.Pro2250Leu) c.6566C>T (p.Pro2189Leu) c.6287C>T (p.Pro2096Leu) c.5330C>T (p.Pro1777Leu) c.5321C>T (p.Pro1774Leu) | COSMIC COSMIC |
| 5 | g.37049295A>C | CA443908552 | NIPBL | c.6948A>C (p.Pro2316=) c.1-15283A>C (n.1-15283A>C) c.6204A>C (p.Pro2068=) c.6750A>C (p.Pro2250=) c.6567A>C (p.Pro2189=) c.6288A>C (p.Pro2096=) c.5331A>C (p.Pro1777=) c.5322A>C (p.Pro1774=) | |
| 5 | g.37049295A>G | CA443908554 | NIPBL | c.6948A>G (p.Pro2316=) c.1-15283A>G (n.1-15283A>G) c.6204A>G (p.Pro2068=) c.6750A>G (p.Pro2250=) c.6567A>G (p.Pro2189=) c.6288A>G (p.Pro2096=) c.5331A>G (p.Pro1777=) c.5322A>G (p.Pro1774=) | |
| 5 | g.37049295A>T | CA443908556 | NIPBL | c.6948A>T (p.Pro2316=) c.1-15283A>T (n.1-15283A>T) c.6204A>T (p.Pro2068=) c.6750A>T (p.Pro2250=) c.6567A>T (p.Pro2189=) c.6288A>T (p.Pro2096=) c.5331A>T (p.Pro1777=) c.5322A>T (p.Pro1774=) | |
| 5 | g.37049296G>A | CA359509132 | NIPBL | c.6949G>A (p.Val2317Ile) c.1-15282G>A (n.1-15282G>A) c.6205G>A (p.Val2069Ile) c.6751G>A (p.Val2251Ile) c.6568G>A (p.Val2190Ile) c.6289G>A (p.Val2097Ile) c.5332G>A (p.Val1778Ile) c.5323G>A (p.Val1775Ile) | |
| 5 | g.37049296G>C | CA359509134 | NIPBL | c.6949G>C (p.Val2317Leu) c.1-15282G>C (n.1-15282G>C) c.6205G>C (p.Val2069Leu) c.6751G>C (p.Val2251Leu) c.6568G>C (p.Val2190Leu) c.6289G>C (p.Val2097Leu) c.5332G>C (p.Val1778Leu) c.5323G>C (p.Val1775Leu) | |
| 5 | g.37049296G>T | CA359509135 | NIPBL | c.6949G>T (p.Val2317Phe) c.1-15282G>T (n.1-15282G>T) c.6205G>T (p.Val2069Phe) c.6751G>T (p.Val2251Phe) c.6568G>T (p.Val2190Phe) c.6289G>T (p.Val2097Phe) c.5332G>T (p.Val1778Phe) c.5323G>T (p.Val1775Phe) | |
| 5 | g.37049297T>A | CA359509137 | NIPBL | c.6950T>A (p.Val2317Asp) c.1-15281T>A (n.1-15281T>A) c.6206T>A (p.Val2069Asp) c.6752T>A (p.Val2251Asp) c.6569T>A (p.Val2190Asp) c.6290T>A (p.Val2097Asp) c.5333T>A (p.Val1778Asp) c.5324T>A (p.Val1775Asp) | |
| 5 | g.37049297T>C | CA359509139 | NIPBL | c.6950T>C (p.Val2317Ala) c.1-15281T>C (n.1-15281T>C) c.6206T>C (p.Val2069Ala) c.6752T>C (p.Val2251Ala) c.6569T>C (p.Val2190Ala) c.6290T>C (p.Val2097Ala) c.5333T>C (p.Val1778Ala) c.5324T>C (p.Val1775Ala) | |
| 5 | g.37049297T>G | CA359509141 | NIPBL | c.6950T>G (p.Val2317Gly) c.1-15281T>G (n.1-15281T>G) c.6206T>G (p.Val2069Gly) c.6752T>G (p.Val2251Gly) c.6569T>G (p.Val2190Gly) c.6290T>G (p.Val2097Gly) c.5333T>G (p.Val1778Gly) c.5324T>G (p.Val1775Gly) | |
| 5 | g.37049298T>A | CA443908567 | NIPBL | c.6951T>A (p.Val2317=) c.1-15280T>A (n.1-15280T>A) c.6207T>A (p.Val2069=) c.6753T>A (p.Val2251=) c.6570T>A (p.Val2190=) c.6291T>A (p.Val2097=) c.5334T>A (p.Val1778=) c.5325T>A (p.Val1775=) | |
| 5 | g.37049298T>C | CA443908569 | NIPBL | c.6951T>C (p.Val2317=) c.1-15280T>C (n.1-15280T>C) c.6207T>C (p.Val2069=) c.6753T>C (p.Val2251=) c.6570T>C (p.Val2190=) c.6291T>C (p.Val2097=) c.5334T>C (p.Val1778=) c.5325T>C (p.Val1775=) | |
| 5 | g.37049298T>G | CA443908571 | NIPBL | c.6951T>G (p.Val2317=) c.1-15280T>G (n.1-15280T>G) c.6207T>G (p.Val2069=) c.6753T>G (p.Val2251=) c.6570T>G (p.Val2190=) c.6291T>G (p.Val2097=) c.5334T>G (p.Val1778=) c.5325T>G (p.Val1775=) | |
| 5 | g.37049299C>A | CA359509142 | NIPBL | c.6952C>A (p.Gln2318Lys) c.1-15279C>A (n.1-15279C>A) c.6208C>A (p.Gln2070Lys) c.6754C>A (p.Gln2252Lys) c.6571C>A (p.Gln2191Lys) c.6292C>A (p.Gln2098Lys) c.5335C>A (p.Gln1779Lys) c.5326C>A (p.Gln1776Lys) | gnomAD v4 |
| 5 | g.37049299C= | CA1539568519 | NIPBL | c.6952C= (p.Gln2318=) c.1-15279C= (n.1-15279C=) c.6208C= (p.Gln2070=) c.6754C= (p.Gln2252=) c.6571C= (p.Gln2191=) c.6292C= (p.Gln2098=) c.5335C= (p.Gln1779=) c.5326C= (p.Gln1776=) | |
| 5 | g.37049299C>G | CA359509144 | NIPBL | c.6952C>G (p.Gln2318Glu) c.1-15279C>G (n.1-15279C>G) c.6208C>G (p.Gln2070Glu) c.6754C>G (p.Gln2252Glu) c.6571C>G (p.Gln2191Glu) c.6292C>G (p.Gln2098Glu) c.5335C>G (p.Gln1779Glu) c.5326C>G (p.Gln1776Glu) | |
| 5 | g.37049299C>T | CA272270 | NIPBL | c.6952C>T (p.Gln2318Ter) c.1-15279C>T (n.1-15279C>T) c.6208C>T (p.Gln2070Ter) c.6754C>T (p.Gln2252Ter) c.6571C>T (p.Gln2191Ter) c.6292C>T (p.Gln2098Ter) c.5335C>T (p.Gln1779Ter) c.5326C>T (p.Gln1776Ter) | ClinVar dbSNP |
| 5 | g.37049300A>C | CA359509147 | NIPBL | c.6953A>C (p.Gln2318Pro) c.1-15278A>C (n.1-15278A>C) c.6209A>C (p.Gln2070Pro) c.6755A>C (p.Gln2252Pro) c.6572A>C (p.Gln2191Pro) c.6293A>C (p.Gln2098Pro) c.5336A>C (p.Gln1779Pro) c.5327A>C (p.Gln1776Pro) | |
| 5 | g.37049300A>G | CA359509148 | NIPBL | c.6953A>G (p.Gln2318Arg) c.1-15278A>G (n.1-15278A>G) c.6209A>G (p.Gln2070Arg) c.6755A>G (p.Gln2252Arg) c.6572A>G (p.Gln2191Arg) c.6293A>G (p.Gln2098Arg) c.5336A>G (p.Gln1779Arg) c.5327A>G (p.Gln1776Arg) | |
| 5 | g.37049300A>T | CA359509146 | NIPBL | c.6953A>T (p.Gln2318Leu) c.1-15278A>T (n.1-15278A>T) c.6209A>T (p.Gln2070Leu) c.6755A>T (p.Gln2252Leu) c.6572A>T (p.Gln2191Leu) c.6293A>T (p.Gln2098Leu) c.5336A>T (p.Gln1779Leu) c.5327A>T (p.Gln1776Leu) |