| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37049192A= | CA1539568407 | NIPBL | c.6845A= (p.Tyr2282=) c.1-15386A= (n.1-15386A=) c.6101A= (p.Tyr2034=) c.6647A= (p.Tyr2216=) c.6464A= (p.Tyr2155=) c.6185A= (p.Tyr2062=) c.5228A= (p.Tyr1743=) c.5219A= (p.Tyr1740=) | |
| 5 | g.37049192A>C | CA359508875 | NIPBL | c.6845A>C (p.Tyr2282Ser) c.1-15386A>C (n.1-15386A>C) c.6101A>C (p.Tyr2034Ser) c.6647A>C (p.Tyr2216Ser) c.6464A>C (p.Tyr2155Ser) c.6185A>C (p.Tyr2062Ser) c.5228A>C (p.Tyr1743Ser) c.5219A>C (p.Tyr1740Ser) | |
| 5 | g.37049192A>G | CA16605364 | NIPBL | c.6845A>G (p.Tyr2282Cys) c.1-15386A>G (n.1-15386A>G) c.6101A>G (p.Tyr2034Cys) c.6647A>G (p.Tyr2216Cys) c.6464A>G (p.Tyr2155Cys) c.6185A>G (p.Tyr2062Cys) c.5228A>G (p.Tyr1743Cys) c.5219A>G (p.Tyr1740Cys) | ClinVar dbSNP |
| 5 | g.37049192A>T | CA359508876 | NIPBL | c.6845A>T (p.Tyr2282Phe) c.1-15386A>T (n.1-15386A>T) c.6101A>T (p.Tyr2034Phe) c.6647A>T (p.Tyr2216Phe) c.6464A>T (p.Tyr2155Phe) c.6185A>T (p.Tyr2062Phe) c.5228A>T (p.Tyr1743Phe) c.5219A>T (p.Tyr1740Phe) | |
| 5 | g.37049193T>A | CA359508877 | NIPBL | c.6846T>A (p.Tyr2282Ter) c.1-15385T>A (n.1-15385T>A) c.6102T>A (p.Tyr2034Ter) c.6648T>A (p.Tyr2216Ter) c.6465T>A (p.Tyr2155Ter) c.6186T>A (p.Tyr2062Ter) c.5229T>A (p.Tyr1743Ter) c.5220T>A (p.Tyr1740Ter) | |
| 5 | g.37049193T>C | CA3237078 | NIPBL | c.6846T>C (p.Tyr2282=) c.1-15385T>C (n.1-15385T>C) c.6102T>C (p.Tyr2034=) c.6648T>C (p.Tyr2216=) c.6465T>C (p.Tyr2155=) c.6186T>C (p.Tyr2062=) c.5229T>C (p.Tyr1743=) c.5220T>C (p.Tyr1740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049193T>G | CA359508878 | NIPBL | c.6846T>G (p.Tyr2282Ter) c.1-15385T>G (n.1-15385T>G) c.6102T>G (p.Tyr2034Ter) c.6648T>G (p.Tyr2216Ter) c.6465T>G (p.Tyr2155Ter) c.6186T>G (p.Tyr2062Ter) c.5229T>G (p.Tyr1743Ter) c.5220T>G (p.Tyr1740Ter) | |
| 5 | g.37049193T= | CA1539568411 | NIPBL | c.6846T= (p.Tyr2282=) c.1-15385T= (n.1-15385T=) c.6102T= (p.Tyr2034=) c.6648T= (p.Tyr2216=) c.6465T= (p.Tyr2155=) c.6186T= (p.Tyr2062=) c.5229T= (p.Tyr1743=) c.5220T= (p.Tyr1740=) | |
| 5 | g.37049194C>A | CA359508879 | NIPBL | c.6847C>A (p.Leu2283Ile) c.1-15384C>A (n.1-15384C>A) c.6103C>A (p.Leu2035Ile) c.6649C>A (p.Leu2217Ile) c.6466C>A (p.Leu2156Ile) c.6187C>A (p.Leu2063Ile) c.5230C>A (p.Leu1744Ile) c.5221C>A (p.Leu1741Ile) | |
| 5 | g.37049194C>G | CA359508880 | NIPBL | c.6847C>G (p.Leu2283Val) c.1-15384C>G (n.1-15384C>G) c.6103C>G (p.Leu2035Val) c.6649C>G (p.Leu2217Val) c.6466C>G (p.Leu2156Val) c.6187C>G (p.Leu2063Val) c.5230C>G (p.Leu1744Val) c.5221C>G (p.Leu1741Val) | gnomAD v4 |
| 5 | g.37049194C>T | CA359508881 | NIPBL | c.6847C>T (p.Leu2283Phe) c.1-15384C>T (n.1-15384C>T) c.6103C>T (p.Leu2035Phe) c.6649C>T (p.Leu2217Phe) c.6466C>T (p.Leu2156Phe) c.6187C>T (p.Leu2063Phe) c.5230C>T (p.Leu1744Phe) c.5221C>T (p.Leu1741Phe) | |
| 5 | g.37049195T>A | CA359508882 | NIPBL | c.6848T>A (p.Leu2283His) c.1-15383T>A (n.1-15383T>A) c.6104T>A (p.Leu2035His) c.6650T>A (p.Leu2217His) c.6467T>A (p.Leu2156His) c.6188T>A (p.Leu2063His) c.5231T>A (p.Leu1744His) c.5222T>A (p.Leu1741His) | |
| 5 | g.37049195T>C | CA359508883 | NIPBL | c.6848T>C (p.Leu2283Pro) c.1-15383T>C (n.1-15383T>C) c.6104T>C (p.Leu2035Pro) c.6650T>C (p.Leu2217Pro) c.6467T>C (p.Leu2156Pro) c.6188T>C (p.Leu2063Pro) c.5231T>C (p.Leu1744Pro) c.5222T>C (p.Leu1741Pro) | |
| 5 | g.37049195T>G | CA359508884 | NIPBL | c.6848T>G (p.Leu2283Arg) c.1-15383T>G (n.1-15383T>G) c.6104T>G (p.Leu2035Arg) c.6650T>G (p.Leu2217Arg) c.6467T>G (p.Leu2156Arg) c.6188T>G (p.Leu2063Arg) c.5231T>G (p.Leu1744Arg) c.5222T>G (p.Leu1741Arg) | |
| 5 | g.37049196C>A | CA443908087 | NIPBL | c.6849C>A (p.Leu2283=) c.1-15382C>A (n.1-15382C>A) c.6105C>A (p.Leu2035=) c.6651C>A (p.Leu2217=) c.6468C>A (p.Leu2156=) c.6189C>A (p.Leu2063=) c.5232C>A (p.Leu1744=) c.5223C>A (p.Leu1741=) | |
| 5 | g.37049196C>G | CA443908085 | NIPBL | c.6849C>G (p.Leu2283=) c.1-15382C>G (n.1-15382C>G) c.6105C>G (p.Leu2035=) c.6651C>G (p.Leu2217=) c.6468C>G (p.Leu2156=) c.6189C>G (p.Leu2063=) c.5232C>G (p.Leu1744=) c.5223C>G (p.Leu1741=) | gnomAD v4 |
| 5 | g.37049196C>T | CA443908083 | NIPBL | c.6849C>T (p.Leu2283=) c.1-15382C>T (n.1-15382C>T) c.6105C>T (p.Leu2035=) c.6651C>T (p.Leu2217=) c.6468C>T (p.Leu2156=) c.6189C>T (p.Leu2063=) c.5232C>T (p.Leu1744=) c.5223C>T (p.Leu1741=) | |
| 5 | g.37049197A>C | CA359508886 | NIPBL | c.6850A>C (p.Lys2284Gln) c.1-15381A>C (n.1-15381A>C) c.6106A>C (p.Lys2036Gln) c.6652A>C (p.Lys2218Gln) c.6469A>C (p.Lys2157Gln) c.6190A>C (p.Lys2064Gln) c.5233A>C (p.Lys1745Gln) c.5224A>C (p.Lys1742Gln) | gnomAD v4 |
| 5 | g.37049197A>G | CA359508887 | NIPBL | c.6850A>G (p.Lys2284Glu) c.1-15381A>G (n.1-15381A>G) c.6106A>G (p.Lys2036Glu) c.6652A>G (p.Lys2218Glu) c.6469A>G (p.Lys2157Glu) c.6190A>G (p.Lys2064Glu) c.5233A>G (p.Lys1745Glu) c.5224A>G (p.Lys1742Glu) | |
| 5 | g.37049197A>T | CA359508885 | NIPBL | c.6850A>T (p.Lys2284Ter) c.1-15381A>T (n.1-15381A>T) c.6106A>T (p.Lys2036Ter) c.6652A>T (p.Lys2218Ter) c.6469A>T (p.Lys2157Ter) c.6190A>T (p.Lys2064Ter) c.5233A>T (p.Lys1745Ter) c.5224A>T (p.Lys1742Ter) | |
| 5 | g.37049199del | CA2695204425 | NIPBL | c.6852del (p.Lys2284AsnfsTer19) c.1-15379del (n.1-15379del) c.6108del (p.Lys2036AsnfsTer19) c.6654del (p.Lys2218AsnfsTer19) c.6471del (p.Lys2157AsnfsTer19) c.6192del (p.Lys2064AsnfsTer19) c.5235del (p.Lys1745AsnfsTer19) c.5226del (p.Lys1742AsnfsTer19) | |
| 5 | g.37049198A>C | CA359508888 | NIPBL | c.6851A>C (p.Lys2284Thr) c.1-15380A>C (n.1-15380A>C) c.6107A>C (p.Lys2036Thr) c.6653A>C (p.Lys2218Thr) c.6470A>C (p.Lys2157Thr) c.6191A>C (p.Lys2064Thr) c.5234A>C (p.Lys1745Thr) c.5225A>C (p.Lys1742Thr) | |
| 5 | g.37049198A>G | CA359508890 | NIPBL | c.6851A>G (p.Lys2284Arg) c.1-15380A>G (n.1-15380A>G) c.6107A>G (p.Lys2036Arg) c.6653A>G (p.Lys2218Arg) c.6470A>G (p.Lys2157Arg) c.6191A>G (p.Lys2064Arg) c.5234A>G (p.Lys1745Arg) c.5225A>G (p.Lys1742Arg) | |
| 5 | g.37049198A>T | CA359508889 | NIPBL | c.6851A>T (p.Lys2284Ile) c.1-15380A>T (n.1-15380A>T) c.6107A>T (p.Lys2036Ile) c.6653A>T (p.Lys2218Ile) c.6470A>T (p.Lys2157Ile) c.6191A>T (p.Lys2064Ile) c.5234A>T (p.Lys1745Ile) c.5225A>T (p.Lys1742Ile) | |
| 5 | g.37049199A>C | CA359508891 | NIPBL | c.6852A>C (p.Lys2284Asn) c.1-15379A>C (n.1-15379A>C) c.6108A>C (p.Lys2036Asn) c.6654A>C (p.Lys2218Asn) c.6471A>C (p.Lys2157Asn) c.6192A>C (p.Lys2064Asn) c.5235A>C (p.Lys1745Asn) c.5226A>C (p.Lys1742Asn) | |
| 5 | g.37049199A>G | CA443908098 | NIPBL | c.6852A>G (p.Lys2284=) c.1-15379A>G (n.1-15379A>G) c.6108A>G (p.Lys2036=) c.6654A>G (p.Lys2218=) c.6471A>G (p.Lys2157=) c.6192A>G (p.Lys2064=) c.5235A>G (p.Lys1745=) c.5226A>G (p.Lys1742=) | |
| 5 | g.37049199A>T | CA359508892 | NIPBL | c.6852A>T (p.Lys2284Asn) c.1-15379A>T (n.1-15379A>T) c.6108A>T (p.Lys2036Asn) c.6654A>T (p.Lys2218Asn) c.6471A>T (p.Lys2157Asn) c.6192A>T (p.Lys2064Asn) c.5235A>T (p.Lys1745Asn) c.5226A>T (p.Lys1742Asn) | |
| 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) |